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1.

rs1491470291 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CGCCGCCGC [Show Flanks]
    Chromosome:
    15:99712533 (GRCh38)
    15:100252739 (GRCh37)
    Canonical SPDI:
    NC_000015.10:99712533:GC:GCCGCCGCCGC
    Gene:
    MEF2A (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,inframe_insertion
    Validated:
    by frequency,by alfa
    MAF:
    GCCGCCGCCGC=0./0 (ALFA)
    GCCGCCGCC=0.00002/3 (GnomAD_exomes)
    GCCGCCGCC=0.000039/5 (GnomAD)
    HGVS:
    NC_000015.10:g.99712536CGC[3], NC_000015.9:g.100252741CGC[3], NG_016443.2:g.151609CGC[3], NM_005587.6:c.1265CGC[3], NM_005587.5:c.1265CGC[3], NM_005587.4:c.1265CGC[3], NM_005587.3:c.1265CGC[3], NM_005587.2:c.1265CGC[3], NM_001171894.5:c.1259CGC[3], NM_001171894.4:c.1259CGC[3], NM_001171894.3:c.1259CGC[3], NM_001171894.2:c.1259CGC[3], NM_001171894.1:c.1259CGC[3], NM_001130926.5:c.1259CGC[3], NM_001130926.4:c.1259CGC[3], NM_001130926.3:c.1259CGC[3], NM_001130926.2:c.1259CGC[3], NM_001130926.1:c.1259CGC[3], NM_001130927.5:c.1079CGC[3], NM_001130927.4:c.1079CGC[3], NM_001130927.3:c.1079CGC[3], NM_001130927.2:c.1079CGC[3], NM_001130927.1:c.1079CGC[3], NM_001352615.4:c.1259CGC[3], NM_001352615.3:c.1259CGC[3], NM_001352615.2:c.1259CGC[3], NM_001352615.1:c.1259CGC[3], NM_001352617.4:c.1265CGC[3], NM_001352617.3:c.1265CGC[3], NM_001352617.2:c.1265CGC[3], NM_001352617.1:c.1265CGC[3], NM_001352614.4:c.1259CGC[3], NM_001352614.3:c.1259CGC[3], NM_001352614.2:c.1259CGC[3], NM_001352614.1:c.1259CGC[3], NM_001319206.4:c.1283CGC[3], NM_001319206.3:c.1283CGC[3], NM_001319206.2:c.1283CGC[3], NM_001319206.1:c.1283CGC[3], NM_001352618.4:c.1277CGC[3], NM_001352618.3:c.1277CGC[3], NM_001352618.2:c.1277CGC[3], NM_001352618.1:c.1277CGC[3], NM_001352616.4:c.1283CGC[3], NM_001352616.3:c.1283CGC[3], NM_001352616.2:c.1283CGC[3], NM_001352616.1:c.1283CGC[3], NM_001130928.4:c.1055CGC[3], NM_001130928.3:c.1055CGC[3], NM_001130928.2:c.1055CGC[3], NM_001130928.1:c.1055CGC[3], NM_001365201.3:c.1301CGC[3], NM_001365201.2:c.1301CGC[3], NM_001365201.1:c.1301CGC[3], NM_001365203.3:c.1289CGC[3], NM_001365203.2:c.1289CGC[3], NM_001365203.1:c.1289CGC[3], NM_001365208.3:c.1259CGC[3], NM_001365208.2:c.1259CGC[3], NM_001365208.1:c.1259CGC[3], NM_001365202.3:c.1301CGC[3], NM_001365202.2:c.1301CGC[3], NM_001365202.1:c.1301CGC[3], NM_001365204.3:c.1289CGC[3], NM_001365204.2:c.1289CGC[3], NM_001365204.1:c.1289CGC[3], NM_001365205.3:c.1283CGC[3], NM_001365205.2:c.1283CGC[3], NM_001365205.1:c.1283CGC[3], NM_001365206.3:c.1277CGC[3], NM_001365206.2:c.1277CGC[3], NM_001365206.1:c.1277CGC[3], NM_001365207.3:c.1265CGC[3], NM_001365207.2:c.1265CGC[3], NM_001365207.1:c.1265CGC[3], NM_001365209.3:c.1079CGC[3], NM_001365209.2:c.1079CGC[3], NM_001365209.1:c.1079CGC[3], NM_001393561.3:c.455CGC[3], NM_001393561.2:c.455CGC[3], NM_001393561.1:c.455CGC[3], NM_001393558.2:c.1061CGC[3], NM_001393558.1:c.1061CGC[3], NM_001393559.2:c.1055CGC[3], NM_001393559.1:c.1055CGC[3], NM_001393560.2:c.944CGC[3], NM_001393560.1:c.944CGC[3], NM_001400063.1:c.1259CGC[3], NM_001400064.1:c.1259CGC[3], NM_001400057.1:c.1259CGC[3], NM_001400037.1:c.1277CGC[3], NM_001400040.1:c.1265CGC[3], NM_001400038.1:c.1265CGC[3], NM_001400032.1:c.1283CGC[3], NM_001400049.1:c.1265CGC[3], NM_001400050.1:c.1265CGC[3], NM_001400058.1:c.1259CGC[3], NM_001400028.1:c.1397CGC[3], NM_001400061.1:c.1259CGC[3], NM_001400035.1:c.1283CGC[3], NM_001400036.1:c.1283CGC[3], NM_001400031.1:c.1283CGC[3], NM_001400065.1:c.1259CGC[3], NM_001400039.1:c.1265CGC[3], NM_001400055.1:c.1259CGC[3], NM_001400059.1:c.1259CGC[3], NM_001400033.1:c.1283CGC[3], NM_001400053.1:c.1265CGC[3], NM_001400066.1:c.1259CGC[3], NM_001400056.1:c.1259CGC[3], NM_001400029.1:c.1289CGC[3], NM_001400062.1:c.1259CGC[3], NM_001400034.1:c.1283CGC[3], NM_001400052.1:c.1265CGC[3], NM_001400054.1:c.1259CGC[3], NM_001400030.1:c.1289CGC[3], NM_001400051.1:c.1265CGC[3], NM_001400060.1:c.1259CGC[3], NM_001400067.1:c.1085CGC[3], NM_001400068.1:c.1061CGC[3], NM_001400069.1:c.923CGC[3], XM_011521582.3:c.1289CGC[3], XM_011521582.2:c.1289CGC[3], XM_011521582.1:c.1289CGC[3], XM_011521572.3:c.1301CGC[3], XM_011521572.2:c.1301CGC[3], XM_011521572.1:c.1301CGC[3], XM_011521579.3:c.1301CGC[3], XM_011521579.2:c.1301CGC[3], XM_011521579.1:c.1301CGC[3], XM_011521577.3:c.1301CGC[3], XM_011521577.2:c.1301CGC[3], XM_011521577.1:c.1301CGC[3], XM_011521573.3:c.1301CGC[3], XM_011521573.2:c.1301CGC[3], XM_011521573.1:c.1301CGC[3], XM_011521585.3:c.1097CGC[3], XM_011521585.2:c.1097CGC[3], XM_011521585.1:c.1097CGC[3], XM_047432530.1:c.1259CGC[3], XM_047432520.1:c.1301CGC[3], XM_047432521.1:c.1289CGC[3], XM_047432523.1:c.1277CGC[3], XM_047432529.1:c.1265CGC[3], XM_047432528.1:c.1265CGC[3], XM_047432531.1:c.1259CGC[3], XM_047432522.1:c.1283CGC[3], XM_047432524.1:c.1265CGC[3], XM_047432527.1:c.1277CGC[3], XM_047432525.1:c.1259CGC[3], XM_047432519.1:c.1301CGC[3], XM_047432526.1:c.1289CGC[3], XM_047432532.1:c.1085CGC[3], NP_005578.2:p.Gln422_Pro423insProProPro, NP_001165365.1:p.Gln420_Pro421insProProPro, NP_001124398.1:p.Gln420_Pro421insProProPro, NP_001124399.1:p.Gln360_Pro361insProProPro, NP_001339544.1:p.Gln420_Pro421insProProPro, NP_001339546.1:p.Gln422_Pro423insProProPro, NP_001339543.1:p.Gln420_Pro421insProProPro, NP_001306135.1:p.Gln428_Pro429insProProPro, NP_001339547.1:p.Gln426_Pro427insProProPro, NP_001339545.1:p.Gln428_Pro429insProProPro, NP_001124400.1:p.Gln352_Pro353insProProPro, NP_001352130.1:p.Gln434_Pro435insProProPro, NP_001352132.1:p.Gln430_Pro431insProProPro, NP_001352137.1:p.Gln420_Pro421insProProPro, NP_001352131.1:p.Gln434_Pro435insProProPro, NP_001352133.1:p.Gln430_Pro431insProProPro, NP_001352134.1:p.Gln428_Pro429insProProPro, NP_001352135.1:p.Gln426_Pro427insProProPro, NP_001352136.1:p.Gln422_Pro423insProProPro, NP_001352138.1:p.Gln360_Pro361insProProPro, NP_001380490.1:p.Gln152_Pro153insProProPro, NP_001380487.1:p.Gln354_Pro355insProProPro, NP_001380488.1:p.Gln352_Pro353insProProPro, NP_001380489.1:p.Gln315_Pro316insProProPro, NP_001386992.1:p.Gln420_Pro421insProProPro, NP_001386993.1:p.Gln420_Pro421insProProPro, NP_001386986.1:p.Gln420_Pro421insProProPro, NP_001386966.1:p.Gln426_Pro427insProProPro, NP_001386969.1:p.Gln422_Pro423insProProPro, NP_001386967.1:p.Gln422_Pro423insProProPro, NP_001386961.1:p.Gln428_Pro429insProProPro, NP_001386978.1:p.Gln422_Pro423insProProPro, NP_001386979.1:p.Gln422_Pro423insProProPro, NP_001386987.1:p.Gln420_Pro421insProProPro, NP_001386957.1:p.Gln466_Pro467insProProPro, NP_001386990.1:p.Gln420_Pro421insProProPro, NP_001386964.1:p.Gln428_Pro429insProProPro, NP_001386965.1:p.Gln428_Pro429insProProPro, NP_001386960.1:p.Gln428_Pro429insProProPro, NP_001386994.1:p.Gln420_Pro421insProProPro, NP_001386968.1:p.Gln422_Pro423insProProPro, NP_001386984.1:p.Gln420_Pro421insProProPro, NP_001386988.1:p.Gln420_Pro421insProProPro, NP_001386962.1:p.Gln428_Pro429insProProPro, NP_001386982.1:p.Gln422_Pro423insProProPro, NP_001386995.1:p.Gln420_Pro421insProProPro, NP_001386985.1:p.Gln420_Pro421insProProPro, NP_001386958.1:p.Gln430_Pro431insProProPro, NP_001386991.1:p.Gln420_Pro421insProProPro, NP_001386963.1:p.Gln428_Pro429insProProPro, NP_001386981.1:p.Gln422_Pro423insProProPro, NP_001386983.1:p.Gln420_Pro421insProProPro, NP_001386959.1:p.Gln430_Pro431insProProPro, NP_001386980.1:p.Gln422_Pro423insProProPro, NP_001386989.1:p.Gln420_Pro421insProProPro, NP_001386996.1:p.Gln362_Pro363insProProPro, NP_001386997.1:p.Gln354_Pro355insProProPro, NP_001386998.1:p.Gln308_Pro309insProProPro, XP_011519884.1:p.Gln430_Pro431insProProPro, XP_011519874.1:p.Gln434_Pro435insProProPro, XP_011519881.1:p.Gln434_Pro435insProProPro, XP_011519879.1:p.Gln434_Pro435insProProPro, XP_011519875.1:p.Gln434_Pro435insProProPro, XP_011519887.1:p.Gln366_Pro367insProProPro, XP_047288486.1:p.Gln420_Pro421insProProPro, XP_047288476.1:p.Gln434_Pro435insProProPro, XP_047288477.1:p.Gln430_Pro431insProProPro, XP_047288479.1:p.Gln426_Pro427insProProPro, XP_047288485.1:p.Gln422_Pro423insProProPro, XP_047288484.1:p.Gln422_Pro423insProProPro, XP_047288487.1:p.Gln420_Pro421insProProPro, XP_047288478.1:p.Gln428_Pro429insProProPro, XP_047288480.1:p.Gln422_Pro423insProProPro, XP_047288483.1:p.Gln426_Pro427insProProPro, XP_047288481.1:p.Gln420_Pro421insProProPro, XP_047288475.1:p.Gln434_Pro435insProProPro, XP_047288482.1:p.Gln430_Pro431insProProPro, XP_047288488.1:p.Gln362_Pro363insProProPro

    2.

    rs1491184447 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      15:99712530 (GRCh38)
      15:100252735 (GRCh37)
      Canonical SPDI:
      NC_000015.10:99712529:AG:
      Gene:
      MEF2A (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.00002/3 (GnomAD_exomes)
      -=0.000036/5 (GnomAD)
      HGVS:
      NC_000015.10:g.99712530_99712531del, NC_000015.9:g.100252735_100252736del, NG_016443.2:g.151603_151604del, NM_005587.6:c.1259_1260del, NM_005587.5:c.1259_1260del, NM_005587.4:c.1259_1260del, NM_005587.3:c.1259_1260del, NM_005587.2:c.1259_1260del, NM_001171894.5:c.1253_1254del, NM_001171894.4:c.1253_1254del, NM_001171894.3:c.1253_1254del, NM_001171894.2:c.1253_1254del, NM_001171894.1:c.1253_1254del, NM_001130926.5:c.1253_1254del, NM_001130926.4:c.1253_1254del, NM_001130926.3:c.1253_1254del, NM_001130926.2:c.1253_1254del, NM_001130926.1:c.1253_1254del, NM_001130927.5:c.1073_1074del, NM_001130927.4:c.1073_1074del, NM_001130927.3:c.1073_1074del, NM_001130927.2:c.1073_1074del, NM_001130927.1:c.1073_1074del, NM_001352615.4:c.1253_1254del, NM_001352615.3:c.1253_1254del, NM_001352615.2:c.1253_1254del, NM_001352615.1:c.1253_1254del, NM_001352617.4:c.1259_1260del, NM_001352617.3:c.1259_1260del, NM_001352617.2:c.1259_1260del, NM_001352617.1:c.1259_1260del, NM_001352614.4:c.1253_1254del, NM_001352614.3:c.1253_1254del, NM_001352614.2:c.1253_1254del, NM_001352614.1:c.1253_1254del, NM_001319206.4:c.1277_1278del, NM_001319206.3:c.1277_1278del, NM_001319206.2:c.1277_1278del, NM_001319206.1:c.1277_1278del, NM_001352618.4:c.1271_1272del, NM_001352618.3:c.1271_1272del, NM_001352618.2:c.1271_1272del, NM_001352618.1:c.1271_1272del, NM_001352616.4:c.1277_1278del, NM_001352616.3:c.1277_1278del, NM_001352616.2:c.1277_1278del, NM_001352616.1:c.1277_1278del, NM_001130928.4:c.1049_1050del, NM_001130928.3:c.1049_1050del, NM_001130928.2:c.1049_1050del, NM_001130928.1:c.1049_1050del, NM_001365201.3:c.1295_1296del, NM_001365201.2:c.1295_1296del, NM_001365201.1:c.1295_1296del, NM_001365203.3:c.1283_1284del, NM_001365203.2:c.1283_1284del, NM_001365203.1:c.1283_1284del, NM_001365208.3:c.1253_1254del, NM_001365208.2:c.1253_1254del, NM_001365208.1:c.1253_1254del, NM_001365202.3:c.1295_1296del, NM_001365202.2:c.1295_1296del, NM_001365202.1:c.1295_1296del, NM_001365204.3:c.1283_1284del, NM_001365204.2:c.1283_1284del, NM_001365204.1:c.1283_1284del, NM_001365205.3:c.1277_1278del, NM_001365205.2:c.1277_1278del, NM_001365205.1:c.1277_1278del, NM_001365206.3:c.1271_1272del, NM_001365206.2:c.1271_1272del, NM_001365206.1:c.1271_1272del, NM_001365207.3:c.1259_1260del, NM_001365207.2:c.1259_1260del, NM_001365207.1:c.1259_1260del, NM_001365209.3:c.1073_1074del, NM_001365209.2:c.1073_1074del, NM_001365209.1:c.1073_1074del, NM_001393561.3:c.449_450del, NM_001393561.2:c.449_450del, NM_001393561.1:c.449_450del, NM_001393558.2:c.1055_1056del, NM_001393558.1:c.1055_1056del, NM_001393559.2:c.1049_1050del, NM_001393559.1:c.1049_1050del, NM_001393560.2:c.938_939del, NM_001393560.1:c.938_939del, NM_001400063.1:c.1253_1254del, NM_001400064.1:c.1253_1254del, NM_001400057.1:c.1253_1254del, NM_001400037.1:c.1271_1272del, NM_001400040.1:c.1259_1260del, NM_001400038.1:c.1259_1260del, NM_001400032.1:c.1277_1278del, NM_001400049.1:c.1259_1260del, NM_001400050.1:c.1259_1260del, NM_001400058.1:c.1253_1254del, NM_001400028.1:c.1391_1392del, NM_001400061.1:c.1253_1254del, NM_001400035.1:c.1277_1278del, NM_001400036.1:c.1277_1278del, NM_001400031.1:c.1277_1278del, NM_001400065.1:c.1253_1254del, NM_001400039.1:c.1259_1260del, NM_001400055.1:c.1253_1254del, NM_001400059.1:c.1253_1254del, NM_001400033.1:c.1277_1278del, NM_001400053.1:c.1259_1260del, NM_001400066.1:c.1253_1254del, NM_001400056.1:c.1253_1254del, NM_001400029.1:c.1283_1284del, NM_001400062.1:c.1253_1254del, NM_001400034.1:c.1277_1278del, NM_001400052.1:c.1259_1260del, NM_001400054.1:c.1253_1254del, NM_001400030.1:c.1283_1284del, NM_001400051.1:c.1259_1260del, NM_001400060.1:c.1253_1254del, NM_001400067.1:c.1079_1080del, NM_001400068.1:c.1055_1056del, NM_001400069.1:c.917_918del, XM_011521582.3:c.1283_1284del, XM_011521582.2:c.1283_1284del, XM_011521582.1:c.1283_1284del, XM_011521572.3:c.1295_1296del, XM_011521572.2:c.1295_1296del, XM_011521572.1:c.1295_1296del, XM_011521579.3:c.1295_1296del, XM_011521579.2:c.1295_1296del, XM_011521579.1:c.1295_1296del, XM_011521577.3:c.1295_1296del, XM_011521577.2:c.1295_1296del, XM_011521577.1:c.1295_1296del, XM_011521573.3:c.1295_1296del, XM_011521573.2:c.1295_1296del, XM_011521573.1:c.1295_1296del, XM_011521585.3:c.1091_1092del, XM_011521585.2:c.1091_1092del, XM_011521585.1:c.1091_1092del, XM_047432530.1:c.1253_1254del, XM_047432520.1:c.1295_1296del, XM_047432521.1:c.1283_1284del, XM_047432523.1:c.1271_1272del, XM_047432529.1:c.1259_1260del, XM_047432528.1:c.1259_1260del, XM_047432531.1:c.1253_1254del, XM_047432522.1:c.1277_1278del, XM_047432524.1:c.1259_1260del, XM_047432527.1:c.1271_1272del, XM_047432525.1:c.1253_1254del, XM_047432519.1:c.1295_1296del, XM_047432526.1:c.1283_1284del, XM_047432532.1:c.1079_1080del, NP_005578.2:p.Gln420fs, NP_001165365.1:p.Gln418fs, NP_001124398.1:p.Gln418fs, NP_001124399.1:p.Gln358fs, NP_001339544.1:p.Gln418fs, NP_001339546.1:p.Gln420fs, NP_001339543.1:p.Gln418fs, NP_001306135.1:p.Gln426fs, NP_001339547.1:p.Gln424fs, NP_001339545.1:p.Gln426fs, NP_001124400.1:p.Gln350fs, NP_001352130.1:p.Gln432fs, NP_001352132.1:p.Gln428fs, NP_001352137.1:p.Gln418fs, NP_001352131.1:p.Gln432fs, NP_001352133.1:p.Gln428fs, NP_001352134.1:p.Gln426fs, NP_001352135.1:p.Gln424fs, NP_001352136.1:p.Gln420fs, NP_001352138.1:p.Gln358fs, NP_001380490.1:p.Gln150fs, NP_001380487.1:p.Gln352fs, NP_001380488.1:p.Gln350fs, NP_001380489.1:p.Gln313fs, NP_001386992.1:p.Gln418fs, NP_001386993.1:p.Gln418fs, NP_001386986.1:p.Gln418fs, NP_001386966.1:p.Gln424fs, NP_001386969.1:p.Gln420fs, NP_001386967.1:p.Gln420fs, NP_001386961.1:p.Gln426fs, NP_001386978.1:p.Gln420fs, NP_001386979.1:p.Gln420fs, NP_001386987.1:p.Gln418fs, NP_001386957.1:p.Gln464fs, NP_001386990.1:p.Gln418fs, NP_001386964.1:p.Gln426fs, NP_001386965.1:p.Gln426fs, NP_001386960.1:p.Gln426fs, NP_001386994.1:p.Gln418fs, NP_001386968.1:p.Gln420fs, NP_001386984.1:p.Gln418fs, NP_001386988.1:p.Gln418fs, NP_001386962.1:p.Gln426fs, NP_001386982.1:p.Gln420fs, NP_001386995.1:p.Gln418fs, NP_001386985.1:p.Gln418fs, NP_001386958.1:p.Gln428fs, NP_001386991.1:p.Gln418fs, NP_001386963.1:p.Gln426fs, NP_001386981.1:p.Gln420fs, NP_001386983.1:p.Gln418fs, NP_001386959.1:p.Gln428fs, NP_001386980.1:p.Gln420fs, NP_001386989.1:p.Gln418fs, NP_001386996.1:p.Gln360fs, NP_001386997.1:p.Gln352fs, NP_001386998.1:p.Gln306fs, XP_011519884.1:p.Gln428fs, XP_011519874.1:p.Gln432fs, XP_011519881.1:p.Gln432fs, XP_011519879.1:p.Gln432fs, XP_011519875.1:p.Gln432fs, XP_011519887.1:p.Gln364fs, XP_047288486.1:p.Gln418fs, XP_047288476.1:p.Gln432fs, XP_047288477.1:p.Gln428fs, XP_047288479.1:p.Gln424fs, XP_047288485.1:p.Gln420fs, XP_047288484.1:p.Gln420fs, XP_047288487.1:p.Gln418fs, XP_047288478.1:p.Gln426fs, XP_047288480.1:p.Gln420fs, XP_047288483.1:p.Gln424fs, XP_047288481.1:p.Gln418fs, XP_047288475.1:p.Gln432fs, XP_047288482.1:p.Gln428fs, XP_047288488.1:p.Gln360fs

      3.

      rs1490237826 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        15:99712481 (GRCh38)
        15:100252686 (GRCh37)
        Canonical SPDI:
        NC_000015.10:99712480:G:T
        Gene:
        MEF2A (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000015.10:g.99712481G>T, NC_000015.9:g.100252686G>T, NG_016443.2:g.151554G>T, NM_005587.6:c.1210G>T, NM_005587.5:c.1210G>T, NM_005587.4:c.1210G>T, NM_005587.3:c.1210G>T, NM_005587.2:c.1210G>T, NM_001171894.5:c.1204G>T, NM_001171894.4:c.1204G>T, NM_001171894.3:c.1204G>T, NM_001171894.2:c.1204G>T, NM_001171894.1:c.1204G>T, NM_001130926.5:c.1204G>T, NM_001130926.4:c.1204G>T, NM_001130926.3:c.1204G>T, NM_001130926.2:c.1204G>T, NM_001130926.1:c.1204G>T, NM_001130927.5:c.1024G>T, NM_001130927.4:c.1024G>T, NM_001130927.3:c.1024G>T, NM_001130927.2:c.1024G>T, NM_001130927.1:c.1024G>T, NM_001352615.4:c.1204G>T, NM_001352615.3:c.1204G>T, NM_001352615.2:c.1204G>T, NM_001352615.1:c.1204G>T, NM_001352617.4:c.1210G>T, NM_001352617.3:c.1210G>T, NM_001352617.2:c.1210G>T, NM_001352617.1:c.1210G>T, NM_001352614.4:c.1204G>T, NM_001352614.3:c.1204G>T, NM_001352614.2:c.1204G>T, NM_001352614.1:c.1204G>T, NM_001319206.4:c.1228G>T, NM_001319206.3:c.1228G>T, NM_001319206.2:c.1228G>T, NM_001319206.1:c.1228G>T, NM_001352618.4:c.1222G>T, NM_001352618.3:c.1222G>T, NM_001352618.2:c.1222G>T, NM_001352618.1:c.1222G>T, NM_001352616.4:c.1228G>T, NM_001352616.3:c.1228G>T, NM_001352616.2:c.1228G>T, NM_001352616.1:c.1228G>T, NM_001130928.4:c.1000G>T, NM_001130928.3:c.1000G>T, NM_001130928.2:c.1000G>T, NM_001130928.1:c.1000G>T, NM_001365201.3:c.1246G>T, NM_001365201.2:c.1246G>T, NM_001365201.1:c.1246G>T, NM_001365203.3:c.1234G>T, NM_001365203.2:c.1234G>T, NM_001365203.1:c.1234G>T, NM_001365208.3:c.1204G>T, NM_001365208.2:c.1204G>T, NM_001365208.1:c.1204G>T, NM_001365202.3:c.1246G>T, NM_001365202.2:c.1246G>T, NM_001365202.1:c.1246G>T, NM_001365204.3:c.1234G>T, NM_001365204.2:c.1234G>T, NM_001365204.1:c.1234G>T, NM_001365205.3:c.1228G>T, NM_001365205.2:c.1228G>T, NM_001365205.1:c.1228G>T, NM_001365206.3:c.1222G>T, NM_001365206.2:c.1222G>T, NM_001365206.1:c.1222G>T, NM_001365207.3:c.1210G>T, NM_001365207.2:c.1210G>T, NM_001365207.1:c.1210G>T, NM_001365209.3:c.1024G>T, NM_001365209.2:c.1024G>T, NM_001365209.1:c.1024G>T, NM_001393561.3:c.400G>T, NM_001393561.2:c.400G>T, NM_001393561.1:c.400G>T, NM_001393558.2:c.1006G>T, NM_001393558.1:c.1006G>T, NM_001393559.2:c.1000G>T, NM_001393559.1:c.1000G>T, NM_001393560.2:c.889G>T, NM_001393560.1:c.889G>T, NM_001400063.1:c.1204G>T, NM_001400064.1:c.1204G>T, NM_001400057.1:c.1204G>T, NM_001400037.1:c.1222G>T, NM_001400040.1:c.1210G>T, NM_001400038.1:c.1210G>T, NM_001400032.1:c.1228G>T, NM_001400049.1:c.1210G>T, NM_001400050.1:c.1210G>T, NM_001400058.1:c.1204G>T, NM_001400028.1:c.1342G>T, NM_001400061.1:c.1204G>T, NM_001400035.1:c.1228G>T, NM_001400036.1:c.1228G>T, NM_001400031.1:c.1228G>T, NM_001400065.1:c.1204G>T, NM_001400039.1:c.1210G>T, NM_001400055.1:c.1204G>T, NM_001400059.1:c.1204G>T, NM_001400033.1:c.1228G>T, NM_001400053.1:c.1210G>T, NM_001400066.1:c.1204G>T, NM_001400056.1:c.1204G>T, NM_001400029.1:c.1234G>T, NM_001400062.1:c.1204G>T, NM_001400034.1:c.1228G>T, NM_001400052.1:c.1210G>T, NM_001400054.1:c.1204G>T, NM_001400030.1:c.1234G>T, NM_001400051.1:c.1210G>T, NM_001400060.1:c.1204G>T, NM_001400067.1:c.1030G>T, NM_001400068.1:c.1006G>T, NM_001400069.1:c.868G>T, XM_011521582.3:c.1234G>T, XM_011521582.2:c.1234G>T, XM_011521582.1:c.1234G>T, XM_011521572.3:c.1246G>T, XM_011521572.2:c.1246G>T, XM_011521572.1:c.1246G>T, XM_011521579.3:c.1246G>T, XM_011521579.2:c.1246G>T, XM_011521579.1:c.1246G>T, XM_011521577.3:c.1246G>T, XM_011521577.2:c.1246G>T, XM_011521577.1:c.1246G>T, XM_011521573.3:c.1246G>T, XM_011521573.2:c.1246G>T, XM_011521573.1:c.1246G>T, XM_011521585.3:c.1042G>T, XM_011521585.2:c.1042G>T, XM_011521585.1:c.1042G>T, XM_047432530.1:c.1204G>T, XM_047432520.1:c.1246G>T, XM_047432521.1:c.1234G>T, XM_047432523.1:c.1222G>T, XM_047432529.1:c.1210G>T, XM_047432528.1:c.1210G>T, XM_047432531.1:c.1204G>T, XM_047432522.1:c.1228G>T, XM_047432524.1:c.1210G>T, XM_047432527.1:c.1222G>T, XM_047432525.1:c.1204G>T, XM_047432519.1:c.1246G>T, XM_047432526.1:c.1234G>T, XM_047432532.1:c.1030G>T, NP_005578.2:p.Asp404Tyr, NP_001165365.1:p.Asp402Tyr, NP_001124398.1:p.Asp402Tyr, NP_001124399.1:p.Asp342Tyr, NP_001339544.1:p.Asp402Tyr, NP_001339546.1:p.Asp404Tyr, NP_001339543.1:p.Asp402Tyr, NP_001306135.1:p.Asp410Tyr, NP_001339547.1:p.Asp408Tyr, NP_001339545.1:p.Asp410Tyr, NP_001124400.1:p.Asp334Tyr, NP_001352130.1:p.Asp416Tyr, NP_001352132.1:p.Asp412Tyr, NP_001352137.1:p.Asp402Tyr, NP_001352131.1:p.Asp416Tyr, NP_001352133.1:p.Asp412Tyr, NP_001352134.1:p.Asp410Tyr, NP_001352135.1:p.Asp408Tyr, NP_001352136.1:p.Asp404Tyr, NP_001352138.1:p.Asp342Tyr, NP_001380490.1:p.Asp134Tyr, NP_001380487.1:p.Asp336Tyr, NP_001380488.1:p.Asp334Tyr, NP_001380489.1:p.Asp297Tyr, NP_001386992.1:p.Asp402Tyr, NP_001386993.1:p.Asp402Tyr, NP_001386986.1:p.Asp402Tyr, NP_001386966.1:p.Asp408Tyr, NP_001386969.1:p.Asp404Tyr, NP_001386967.1:p.Asp404Tyr, NP_001386961.1:p.Asp410Tyr, NP_001386978.1:p.Asp404Tyr, NP_001386979.1:p.Asp404Tyr, NP_001386987.1:p.Asp402Tyr, NP_001386957.1:p.Asp448Tyr, NP_001386990.1:p.Asp402Tyr, NP_001386964.1:p.Asp410Tyr, NP_001386965.1:p.Asp410Tyr, NP_001386960.1:p.Asp410Tyr, NP_001386994.1:p.Asp402Tyr, NP_001386968.1:p.Asp404Tyr, NP_001386984.1:p.Asp402Tyr, NP_001386988.1:p.Asp402Tyr, NP_001386962.1:p.Asp410Tyr, NP_001386982.1:p.Asp404Tyr, NP_001386995.1:p.Asp402Tyr, NP_001386985.1:p.Asp402Tyr, NP_001386958.1:p.Asp412Tyr, NP_001386991.1:p.Asp402Tyr, NP_001386963.1:p.Asp410Tyr, NP_001386981.1:p.Asp404Tyr, NP_001386983.1:p.Asp402Tyr, NP_001386959.1:p.Asp412Tyr, NP_001386980.1:p.Asp404Tyr, NP_001386989.1:p.Asp402Tyr, NP_001386996.1:p.Asp344Tyr, NP_001386997.1:p.Asp336Tyr, NP_001386998.1:p.Asp290Tyr, XP_011519884.1:p.Asp412Tyr, XP_011519874.1:p.Asp416Tyr, XP_011519881.1:p.Asp416Tyr, XP_011519879.1:p.Asp416Tyr, XP_011519875.1:p.Asp416Tyr, XP_011519887.1:p.Asp348Tyr, XP_047288486.1:p.Asp402Tyr, XP_047288476.1:p.Asp416Tyr, XP_047288477.1:p.Asp412Tyr, XP_047288479.1:p.Asp408Tyr, XP_047288485.1:p.Asp404Tyr, XP_047288484.1:p.Asp404Tyr, XP_047288487.1:p.Asp402Tyr, XP_047288478.1:p.Asp410Tyr, XP_047288480.1:p.Asp404Tyr, XP_047288483.1:p.Asp408Tyr, XP_047288481.1:p.Asp402Tyr, XP_047288475.1:p.Asp416Tyr, XP_047288482.1:p.Asp412Tyr, XP_047288488.1:p.Asp344Tyr

        4.

        rs1487767106 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          15:99712551 (GRCh38)
          15:100252756 (GRCh37)
          Canonical SPDI:
          NC_000015.10:99712550:C:A,NC_000015.10:99712550:C:G,NC_000015.10:99712550:C:T
          Gene:
          MEF2A (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000015/4 (TOPMED)
          HGVS:
          NC_000015.10:g.99712551C>A, NC_000015.10:g.99712551C>G, NC_000015.10:g.99712551C>T, NC_000015.9:g.100252756C>A, NC_000015.9:g.100252756C>G, NC_000015.9:g.100252756C>T, NG_016443.2:g.151624C>A, NG_016443.2:g.151624C>G, NG_016443.2:g.151624C>T, NM_005587.6:c.1280C>A, NM_005587.6:c.1280C>G, NM_005587.6:c.1280C>T, NM_005587.5:c.1280C>A, NM_005587.5:c.1280C>G, NM_005587.5:c.1280C>T, NM_005587.4:c.1280C>A, NM_005587.4:c.1280C>G, NM_005587.4:c.1280C>T, NM_005587.3:c.1280C>A, NM_005587.3:c.1280C>G, NM_005587.3:c.1280C>T, NM_005587.2:c.1280C>A, NM_005587.2:c.1280C>G, NM_005587.2:c.1280C>T, NM_001171894.5:c.1274C>A, NM_001171894.5:c.1274C>G, NM_001171894.5:c.1274C>T, NM_001171894.4:c.1274C>A, NM_001171894.4:c.1274C>G, NM_001171894.4:c.1274C>T, NM_001171894.3:c.1274C>A, NM_001171894.3:c.1274C>G, NM_001171894.3:c.1274C>T, NM_001171894.2:c.1274C>A, NM_001171894.2:c.1274C>G, NM_001171894.2:c.1274C>T, NM_001171894.1:c.1274C>A, NM_001171894.1:c.1274C>G, NM_001171894.1:c.1274C>T, NM_001130926.5:c.1274C>A, NM_001130926.5:c.1274C>G, NM_001130926.5:c.1274C>T, NM_001130926.4:c.1274C>A, NM_001130926.4:c.1274C>G, NM_001130926.4:c.1274C>T, NM_001130926.3:c.1274C>A, NM_001130926.3:c.1274C>G, NM_001130926.3:c.1274C>T, NM_001130926.2:c.1274C>A, NM_001130926.2:c.1274C>G, NM_001130926.2:c.1274C>T, NM_001130926.1:c.1274C>A, NM_001130926.1:c.1274C>G, NM_001130926.1:c.1274C>T, NM_001130927.5:c.1094C>A, NM_001130927.5:c.1094C>G, NM_001130927.5:c.1094C>T, NM_001130927.4:c.1094C>A, NM_001130927.4:c.1094C>G, NM_001130927.4:c.1094C>T, NM_001130927.3:c.1094C>A, NM_001130927.3:c.1094C>G, NM_001130927.3:c.1094C>T, NM_001130927.2:c.1094C>A, NM_001130927.2:c.1094C>G, NM_001130927.2:c.1094C>T, NM_001130927.1:c.1094C>A, NM_001130927.1:c.1094C>G, NM_001130927.1:c.1094C>T, NM_001352615.4:c.1274C>A, NM_001352615.4:c.1274C>G, NM_001352615.4:c.1274C>T, NM_001352615.3:c.1274C>A, NM_001352615.3:c.1274C>G, NM_001352615.3:c.1274C>T, NM_001352615.2:c.1274C>A, NM_001352615.2:c.1274C>G, NM_001352615.2:c.1274C>T, NM_001352615.1:c.1274C>A, NM_001352615.1:c.1274C>G, NM_001352615.1:c.1274C>T, NM_001352617.4:c.1280C>A, NM_001352617.4:c.1280C>G, NM_001352617.4:c.1280C>T, NM_001352617.3:c.1280C>A, NM_001352617.3:c.1280C>G, NM_001352617.3:c.1280C>T, NM_001352617.2:c.1280C>A, NM_001352617.2:c.1280C>G, NM_001352617.2:c.1280C>T, NM_001352617.1:c.1280C>A, NM_001352617.1:c.1280C>G, NM_001352617.1:c.1280C>T, NM_001352614.4:c.1274C>A, NM_001352614.4:c.1274C>G, NM_001352614.4:c.1274C>T, NM_001352614.3:c.1274C>A, NM_001352614.3:c.1274C>G, NM_001352614.3:c.1274C>T, NM_001352614.2:c.1274C>A, NM_001352614.2:c.1274C>G, NM_001352614.2:c.1274C>T, NM_001352614.1:c.1274C>A, NM_001352614.1:c.1274C>G, NM_001352614.1:c.1274C>T, NM_001319206.4:c.1298C>A, NM_001319206.4:c.1298C>G, NM_001319206.4:c.1298C>T, NM_001319206.3:c.1298C>A, NM_001319206.3:c.1298C>G, NM_001319206.3:c.1298C>T, NM_001319206.2:c.1298C>A, NM_001319206.2:c.1298C>G, NM_001319206.2:c.1298C>T, NM_001319206.1:c.1298C>A, NM_001319206.1:c.1298C>G, NM_001319206.1:c.1298C>T, NM_001352618.4:c.1292C>A, NM_001352618.4:c.1292C>G, NM_001352618.4:c.1292C>T, NM_001352618.3:c.1292C>A, NM_001352618.3:c.1292C>G, NM_001352618.3:c.1292C>T, NM_001352618.2:c.1292C>A, NM_001352618.2:c.1292C>G, NM_001352618.2:c.1292C>T, NM_001352618.1:c.1292C>A, NM_001352618.1:c.1292C>G, NM_001352618.1:c.1292C>T, NM_001352616.4:c.1298C>A, NM_001352616.4:c.1298C>G, NM_001352616.4:c.1298C>T, NM_001352616.3:c.1298C>A, NM_001352616.3:c.1298C>G, NM_001352616.3:c.1298C>T, NM_001352616.2:c.1298C>A, NM_001352616.2:c.1298C>G, NM_001352616.2:c.1298C>T, NM_001352616.1:c.1298C>A, NM_001352616.1:c.1298C>G, NM_001352616.1:c.1298C>T, NM_001130928.4:c.1070C>A, NM_001130928.4:c.1070C>G, NM_001130928.4:c.1070C>T, NM_001130928.3:c.1070C>A, NM_001130928.3:c.1070C>G, NM_001130928.3:c.1070C>T, NM_001130928.2:c.1070C>A, NM_001130928.2:c.1070C>G, NM_001130928.2:c.1070C>T, NM_001130928.1:c.1070C>A, NM_001130928.1:c.1070C>G, NM_001130928.1:c.1070C>T, NM_001365201.3:c.1316C>A, NM_001365201.3:c.1316C>G, NM_001365201.3:c.1316C>T, NM_001365201.2:c.1316C>A, NM_001365201.2:c.1316C>G, NM_001365201.2:c.1316C>T, NM_001365201.1:c.1316C>A, NM_001365201.1:c.1316C>G, NM_001365201.1:c.1316C>T, NM_001365203.3:c.1304C>A, NM_001365203.3:c.1304C>G, NM_001365203.3:c.1304C>T, NM_001365203.2:c.1304C>A, NM_001365203.2:c.1304C>G, NM_001365203.2:c.1304C>T, NM_001365203.1:c.1304C>A, NM_001365203.1:c.1304C>G, NM_001365203.1:c.1304C>T, NM_001365208.3:c.1274C>A, NM_001365208.3:c.1274C>G, NM_001365208.3:c.1274C>T, NM_001365208.2:c.1274C>A, NM_001365208.2:c.1274C>G, NM_001365208.2:c.1274C>T, NM_001365208.1:c.1274C>A, NM_001365208.1:c.1274C>G, NM_001365208.1:c.1274C>T, NM_001365202.3:c.1316C>A, NM_001365202.3:c.1316C>G, NM_001365202.3:c.1316C>T, NM_001365202.2:c.1316C>A, NM_001365202.2:c.1316C>G, NM_001365202.2:c.1316C>T, NM_001365202.1:c.1316C>A, NM_001365202.1:c.1316C>G, NM_001365202.1:c.1316C>T, NM_001365204.3:c.1304C>A, NM_001365204.3:c.1304C>G, NM_001365204.3:c.1304C>T, NM_001365204.2:c.1304C>A, NM_001365204.2:c.1304C>G, NM_001365204.2:c.1304C>T, NM_001365204.1:c.1304C>A, NM_001365204.1:c.1304C>G, NM_001365204.1:c.1304C>T, NM_001365205.3:c.1298C>A, NM_001365205.3:c.1298C>G, NM_001365205.3:c.1298C>T, NM_001365205.2:c.1298C>A, NM_001365205.2:c.1298C>G, NM_001365205.2:c.1298C>T, NM_001365205.1:c.1298C>A, NM_001365205.1:c.1298C>G, NM_001365205.1:c.1298C>T, NM_001365206.3:c.1292C>A, NM_001365206.3:c.1292C>G, NM_001365206.3:c.1292C>T, NM_001365206.2:c.1292C>A, NM_001365206.2:c.1292C>G, NM_001365206.2:c.1292C>T, NM_001365206.1:c.1292C>A, NM_001365206.1:c.1292C>G, NM_001365206.1:c.1292C>T, NM_001365207.3:c.1280C>A, NM_001365207.3:c.1280C>G, NM_001365207.3:c.1280C>T, NM_001365207.2:c.1280C>A, NM_001365207.2:c.1280C>G, NM_001365207.2:c.1280C>T, NM_001365207.1:c.1280C>A, NM_001365207.1:c.1280C>G, NM_001365207.1:c.1280C>T, NM_001365209.3:c.1094C>A, NM_001365209.3:c.1094C>G, NM_001365209.3:c.1094C>T, NM_001365209.2:c.1094C>A, NM_001365209.2:c.1094C>G, NM_001365209.2:c.1094C>T, NM_001365209.1:c.1094C>A, NM_001365209.1:c.1094C>G, NM_001365209.1:c.1094C>T, NM_001393561.3:c.470C>A, NM_001393561.3:c.470C>G, NM_001393561.3:c.470C>T, NM_001393561.2:c.470C>A, NM_001393561.2:c.470C>G, NM_001393561.2:c.470C>T, NM_001393561.1:c.470C>A, NM_001393561.1:c.470C>G, NM_001393561.1:c.470C>T, NM_001393558.2:c.1076C>A, NM_001393558.2:c.1076C>G, NM_001393558.2:c.1076C>T, NM_001393558.1:c.1076C>A, NM_001393558.1:c.1076C>G, NM_001393558.1:c.1076C>T, NM_001393559.2:c.1070C>A, NM_001393559.2:c.1070C>G, NM_001393559.2:c.1070C>T, NM_001393559.1:c.1070C>A, NM_001393559.1:c.1070C>G, NM_001393559.1:c.1070C>T, NM_001393560.2:c.959C>A, NM_001393560.2:c.959C>G, NM_001393560.2:c.959C>T, NM_001393560.1:c.959C>A, NM_001393560.1:c.959C>G, NM_001393560.1:c.959C>T, NM_001400063.1:c.1274C>A, NM_001400063.1:c.1274C>G, NM_001400063.1:c.1274C>T, NM_001400064.1:c.1274C>A, NM_001400064.1:c.1274C>G, NM_001400064.1:c.1274C>T, NM_001400057.1:c.1274C>A, NM_001400057.1:c.1274C>G, NM_001400057.1:c.1274C>T, NM_001400037.1:c.1292C>A, NM_001400037.1:c.1292C>G, NM_001400037.1:c.1292C>T, NM_001400040.1:c.1280C>A, NM_001400040.1:c.1280C>G, NM_001400040.1:c.1280C>T, NM_001400038.1:c.1280C>A, NM_001400038.1:c.1280C>G, NM_001400038.1:c.1280C>T, NM_001400032.1:c.1298C>A, NM_001400032.1:c.1298C>G, NM_001400032.1:c.1298C>T, NM_001400049.1:c.1280C>A, NM_001400049.1:c.1280C>G, NM_001400049.1:c.1280C>T, NM_001400050.1:c.1280C>A, NM_001400050.1:c.1280C>G, NM_001400050.1:c.1280C>T, NM_001400058.1:c.1274C>A, NM_001400058.1:c.1274C>G, NM_001400058.1:c.1274C>T, NM_001400028.1:c.1412C>A, NM_001400028.1:c.1412C>G, NM_001400028.1:c.1412C>T, NM_001400061.1:c.1274C>A, NM_001400061.1:c.1274C>G, NM_001400061.1:c.1274C>T, NM_001400035.1:c.1298C>A, NM_001400035.1:c.1298C>G, NM_001400035.1:c.1298C>T, NM_001400036.1:c.1298C>A, NM_001400036.1:c.1298C>G, NM_001400036.1:c.1298C>T, NM_001400031.1:c.1298C>A, NM_001400031.1:c.1298C>G, NM_001400031.1:c.1298C>T, NM_001400065.1:c.1274C>A, NM_001400065.1:c.1274C>G, NM_001400065.1:c.1274C>T, NM_001400039.1:c.1280C>A, NM_001400039.1:c.1280C>G, NM_001400039.1:c.1280C>T, NM_001400055.1:c.1274C>A, NM_001400055.1:c.1274C>G, NM_001400055.1:c.1274C>T, NM_001400059.1:c.1274C>A, NM_001400059.1:c.1274C>G, NM_001400059.1:c.1274C>T, NM_001400033.1:c.1298C>A, NM_001400033.1:c.1298C>G, NM_001400033.1:c.1298C>T, NM_001400053.1:c.1280C>A, NM_001400053.1:c.1280C>G, NM_001400053.1:c.1280C>T, NM_001400066.1:c.1274C>A, NM_001400066.1:c.1274C>G, NM_001400066.1:c.1274C>T, NM_001400056.1:c.1274C>A, NM_001400056.1:c.1274C>G, NM_001400056.1:c.1274C>T, NM_001400029.1:c.1304C>A, NM_001400029.1:c.1304C>G, NM_001400029.1:c.1304C>T, NM_001400062.1:c.1274C>A, NM_001400062.1:c.1274C>G, NM_001400062.1:c.1274C>T, NM_001400034.1:c.1298C>A, NM_001400034.1:c.1298C>G, NM_001400034.1:c.1298C>T, NM_001400052.1:c.1280C>A, NM_001400052.1:c.1280C>G, NM_001400052.1:c.1280C>T, NM_001400054.1:c.1274C>A, NM_001400054.1:c.1274C>G, NM_001400054.1:c.1274C>T, NM_001400030.1:c.1304C>A, NM_001400030.1:c.1304C>G, NM_001400030.1:c.1304C>T, NM_001400051.1:c.1280C>A, NM_001400051.1:c.1280C>G, NM_001400051.1:c.1280C>T, NM_001400060.1:c.1274C>A, NM_001400060.1:c.1274C>G, NM_001400060.1:c.1274C>T, NM_001400067.1:c.1100C>A, NM_001400067.1:c.1100C>G, NM_001400067.1:c.1100C>T, NM_001400068.1:c.1076C>A, NM_001400068.1:c.1076C>G, NM_001400068.1:c.1076C>T, NM_001400069.1:c.938C>A, NM_001400069.1:c.938C>G, NM_001400069.1:c.938C>T, XM_011521582.3:c.1304C>A, XM_011521582.3:c.1304C>G, XM_011521582.3:c.1304C>T, XM_011521582.2:c.1304C>A, XM_011521582.2:c.1304C>G, XM_011521582.2:c.1304C>T, XM_011521582.1:c.1304C>A, XM_011521582.1:c.1304C>G, XM_011521582.1:c.1304C>T, XM_011521572.3:c.1316C>A, XM_011521572.3:c.1316C>G, XM_011521572.3:c.1316C>T, XM_011521572.2:c.1316C>A, XM_011521572.2:c.1316C>G, XM_011521572.2:c.1316C>T, XM_011521572.1:c.1316C>A, XM_011521572.1:c.1316C>G, XM_011521572.1:c.1316C>T, XM_011521579.3:c.1316C>A, XM_011521579.3:c.1316C>G, XM_011521579.3:c.1316C>T, XM_011521579.2:c.1316C>A, XM_011521579.2:c.1316C>G, XM_011521579.2:c.1316C>T, XM_011521579.1:c.1316C>A, XM_011521579.1:c.1316C>G, XM_011521579.1:c.1316C>T, XM_011521577.3:c.1316C>A, XM_011521577.3:c.1316C>G, XM_011521577.3:c.1316C>T, XM_011521577.2:c.1316C>A, XM_011521577.2:c.1316C>G, XM_011521577.2:c.1316C>T, XM_011521577.1:c.1316C>A, XM_011521577.1:c.1316C>G, XM_011521577.1:c.1316C>T, XM_011521573.3:c.1316C>A, XM_011521573.3:c.1316C>G, XM_011521573.3:c.1316C>T, XM_011521573.2:c.1316C>A, XM_011521573.2:c.1316C>G, XM_011521573.2:c.1316C>T, XM_011521573.1:c.1316C>A, XM_011521573.1:c.1316C>G, XM_011521573.1:c.1316C>T, XM_011521585.3:c.1112C>A, XM_011521585.3:c.1112C>G, XM_011521585.3:c.1112C>T, XM_011521585.2:c.1112C>A, XM_011521585.2:c.1112C>G, XM_011521585.2:c.1112C>T, XM_011521585.1:c.1112C>A, XM_011521585.1:c.1112C>G, XM_011521585.1:c.1112C>T, XM_047432530.1:c.1274C>A, XM_047432530.1:c.1274C>G, XM_047432530.1:c.1274C>T, XM_047432520.1:c.1316C>A, XM_047432520.1:c.1316C>G, XM_047432520.1:c.1316C>T, XM_047432521.1:c.1304C>A, XM_047432521.1:c.1304C>G, XM_047432521.1:c.1304C>T, XM_047432523.1:c.1292C>A, XM_047432523.1:c.1292C>G, XM_047432523.1:c.1292C>T, XM_047432529.1:c.1280C>A, XM_047432529.1:c.1280C>G, XM_047432529.1:c.1280C>T, XM_047432528.1:c.1280C>A, XM_047432528.1:c.1280C>G, XM_047432528.1:c.1280C>T, XM_047432531.1:c.1274C>A, XM_047432531.1:c.1274C>G, XM_047432531.1:c.1274C>T, XM_047432522.1:c.1298C>A, XM_047432522.1:c.1298C>G, XM_047432522.1:c.1298C>T, XM_047432524.1:c.1280C>A, XM_047432524.1:c.1280C>G, XM_047432524.1:c.1280C>T, XM_047432527.1:c.1292C>A, XM_047432527.1:c.1292C>G, XM_047432527.1:c.1292C>T, XM_047432525.1:c.1274C>A, XM_047432525.1:c.1274C>G, XM_047432525.1:c.1274C>T, XM_047432519.1:c.1316C>A, XM_047432519.1:c.1316C>G, XM_047432519.1:c.1316C>T, XM_047432526.1:c.1304C>A, XM_047432526.1:c.1304C>G, XM_047432526.1:c.1304C>T, XM_047432532.1:c.1100C>A, XM_047432532.1:c.1100C>G, XM_047432532.1:c.1100C>T, NP_005578.2:p.Pro427Gln, NP_005578.2:p.Pro427Arg, NP_005578.2:p.Pro427Leu, NP_001165365.1:p.Pro425Gln, NP_001165365.1:p.Pro425Arg, NP_001165365.1:p.Pro425Leu, NP_001124398.1:p.Pro425Gln, NP_001124398.1:p.Pro425Arg, NP_001124398.1:p.Pro425Leu, NP_001124399.1:p.Pro365Gln, NP_001124399.1:p.Pro365Arg, NP_001124399.1:p.Pro365Leu, NP_001339544.1:p.Pro425Gln, NP_001339544.1:p.Pro425Arg, NP_001339544.1:p.Pro425Leu, NP_001339546.1:p.Pro427Gln, NP_001339546.1:p.Pro427Arg, NP_001339546.1:p.Pro427Leu, NP_001339543.1:p.Pro425Gln, NP_001339543.1:p.Pro425Arg, NP_001339543.1:p.Pro425Leu, NP_001306135.1:p.Pro433Gln, NP_001306135.1:p.Pro433Arg, NP_001306135.1:p.Pro433Leu, NP_001339547.1:p.Pro431Gln, NP_001339547.1:p.Pro431Arg, NP_001339547.1:p.Pro431Leu, NP_001339545.1:p.Pro433Gln, NP_001339545.1:p.Pro433Arg, NP_001339545.1:p.Pro433Leu, NP_001124400.1:p.Pro357Gln, NP_001124400.1:p.Pro357Arg, NP_001124400.1:p.Pro357Leu, NP_001352130.1:p.Pro439Gln, NP_001352130.1:p.Pro439Arg, NP_001352130.1:p.Pro439Leu, NP_001352132.1:p.Pro435Gln, NP_001352132.1:p.Pro435Arg, NP_001352132.1:p.Pro435Leu, NP_001352137.1:p.Pro425Gln, NP_001352137.1:p.Pro425Arg, NP_001352137.1:p.Pro425Leu, NP_001352131.1:p.Pro439Gln, NP_001352131.1:p.Pro439Arg, NP_001352131.1:p.Pro439Leu, NP_001352133.1:p.Pro435Gln, NP_001352133.1:p.Pro435Arg, NP_001352133.1:p.Pro435Leu, NP_001352134.1:p.Pro433Gln, NP_001352134.1:p.Pro433Arg, NP_001352134.1:p.Pro433Leu, NP_001352135.1:p.Pro431Gln, NP_001352135.1:p.Pro431Arg, NP_001352135.1:p.Pro431Leu, NP_001352136.1:p.Pro427Gln, NP_001352136.1:p.Pro427Arg, NP_001352136.1:p.Pro427Leu, NP_001352138.1:p.Pro365Gln, NP_001352138.1:p.Pro365Arg, NP_001352138.1:p.Pro365Leu, NP_001380490.1:p.Pro157Gln, NP_001380490.1:p.Pro157Arg, NP_001380490.1:p.Pro157Leu, NP_001380487.1:p.Pro359Gln, NP_001380487.1:p.Pro359Arg, NP_001380487.1:p.Pro359Leu, NP_001380488.1:p.Pro357Gln, NP_001380488.1:p.Pro357Arg, NP_001380488.1:p.Pro357Leu, NP_001380489.1:p.Pro320Gln, NP_001380489.1:p.Pro320Arg, NP_001380489.1:p.Pro320Leu, NP_001386992.1:p.Pro425Gln, NP_001386992.1:p.Pro425Arg, NP_001386992.1:p.Pro425Leu, NP_001386993.1:p.Pro425Gln, NP_001386993.1:p.Pro425Arg, NP_001386993.1:p.Pro425Leu, NP_001386986.1:p.Pro425Gln, NP_001386986.1:p.Pro425Arg, NP_001386986.1:p.Pro425Leu, NP_001386966.1:p.Pro431Gln, NP_001386966.1:p.Pro431Arg, NP_001386966.1:p.Pro431Leu, NP_001386969.1:p.Pro427Gln, NP_001386969.1:p.Pro427Arg, NP_001386969.1:p.Pro427Leu, NP_001386967.1:p.Pro427Gln, NP_001386967.1:p.Pro427Arg, NP_001386967.1:p.Pro427Leu, NP_001386961.1:p.Pro433Gln, NP_001386961.1:p.Pro433Arg, NP_001386961.1:p.Pro433Leu, NP_001386978.1:p.Pro427Gln, NP_001386978.1:p.Pro427Arg, NP_001386978.1:p.Pro427Leu, NP_001386979.1:p.Pro427Gln, NP_001386979.1:p.Pro427Arg, NP_001386979.1:p.Pro427Leu, NP_001386987.1:p.Pro425Gln, NP_001386987.1:p.Pro425Arg, NP_001386987.1:p.Pro425Leu, NP_001386957.1:p.Pro471Gln, NP_001386957.1:p.Pro471Arg, NP_001386957.1:p.Pro471Leu, NP_001386990.1:p.Pro425Gln, NP_001386990.1:p.Pro425Arg, NP_001386990.1:p.Pro425Leu, NP_001386964.1:p.Pro433Gln, NP_001386964.1:p.Pro433Arg, NP_001386964.1:p.Pro433Leu, NP_001386965.1:p.Pro433Gln, NP_001386965.1:p.Pro433Arg, NP_001386965.1:p.Pro433Leu, NP_001386960.1:p.Pro433Gln, NP_001386960.1:p.Pro433Arg, NP_001386960.1:p.Pro433Leu, NP_001386994.1:p.Pro425Gln, NP_001386994.1:p.Pro425Arg, NP_001386994.1:p.Pro425Leu, NP_001386968.1:p.Pro427Gln, NP_001386968.1:p.Pro427Arg, NP_001386968.1:p.Pro427Leu, NP_001386984.1:p.Pro425Gln, NP_001386984.1:p.Pro425Arg, NP_001386984.1:p.Pro425Leu, NP_001386988.1:p.Pro425Gln, NP_001386988.1:p.Pro425Arg, NP_001386988.1:p.Pro425Leu, NP_001386962.1:p.Pro433Gln, NP_001386962.1:p.Pro433Arg, NP_001386962.1:p.Pro433Leu, NP_001386982.1:p.Pro427Gln, NP_001386982.1:p.Pro427Arg, NP_001386982.1:p.Pro427Leu, NP_001386995.1:p.Pro425Gln, NP_001386995.1:p.Pro425Arg, NP_001386995.1:p.Pro425Leu, NP_001386985.1:p.Pro425Gln, NP_001386985.1:p.Pro425Arg, NP_001386985.1:p.Pro425Leu, NP_001386958.1:p.Pro435Gln, NP_001386958.1:p.Pro435Arg, NP_001386958.1:p.Pro435Leu, NP_001386991.1:p.Pro425Gln, NP_001386991.1:p.Pro425Arg, NP_001386991.1:p.Pro425Leu, NP_001386963.1:p.Pro433Gln, NP_001386963.1:p.Pro433Arg, NP_001386963.1:p.Pro433Leu, NP_001386981.1:p.Pro427Gln, NP_001386981.1:p.Pro427Arg, NP_001386981.1:p.Pro427Leu, NP_001386983.1:p.Pro425Gln, NP_001386983.1:p.Pro425Arg, NP_001386983.1:p.Pro425Leu, NP_001386959.1:p.Pro435Gln, NP_001386959.1:p.Pro435Arg, NP_001386959.1:p.Pro435Leu, NP_001386980.1:p.Pro427Gln, NP_001386980.1:p.Pro427Arg, NP_001386980.1:p.Pro427Leu, NP_001386989.1:p.Pro425Gln, NP_001386989.1:p.Pro425Arg, NP_001386989.1:p.Pro425Leu, NP_001386996.1:p.Pro367Gln, NP_001386996.1:p.Pro367Arg, NP_001386996.1:p.Pro367Leu, NP_001386997.1:p.Pro359Gln, NP_001386997.1:p.Pro359Arg, NP_001386997.1:p.Pro359Leu, NP_001386998.1:p.Pro313Gln, NP_001386998.1:p.Pro313Arg, NP_001386998.1:p.Pro313Leu, XP_011519884.1:p.Pro435Gln, XP_011519884.1:p.Pro435Arg, XP_011519884.1:p.Pro435Leu, XP_011519874.1:p.Pro439Gln, XP_011519874.1:p.Pro439Arg, XP_011519874.1:p.Pro439Leu, XP_011519881.1:p.Pro439Gln, XP_011519881.1:p.Pro439Arg, XP_011519881.1:p.Pro439Leu, XP_011519879.1:p.Pro439Gln, XP_011519879.1:p.Pro439Arg, XP_011519879.1:p.Pro439Leu, XP_011519875.1:p.Pro439Gln, XP_011519875.1:p.Pro439Arg, XP_011519875.1:p.Pro439Leu, XP_011519887.1:p.Pro371Gln, XP_011519887.1:p.Pro371Arg, XP_011519887.1:p.Pro371Leu, XP_047288486.1:p.Pro425Gln, XP_047288486.1:p.Pro425Arg, XP_047288486.1:p.Pro425Leu, XP_047288476.1:p.Pro439Gln, XP_047288476.1:p.Pro439Arg, XP_047288476.1:p.Pro439Leu, XP_047288477.1:p.Pro435Gln, XP_047288477.1:p.Pro435Arg, XP_047288477.1:p.Pro435Leu, XP_047288479.1:p.Pro431Gln, XP_047288479.1:p.Pro431Arg, XP_047288479.1:p.Pro431Leu, XP_047288485.1:p.Pro427Gln, XP_047288485.1:p.Pro427Arg, XP_047288485.1:p.Pro427Leu, XP_047288484.1:p.Pro427Gln, XP_047288484.1:p.Pro427Arg, XP_047288484.1:p.Pro427Leu, XP_047288487.1:p.Pro425Gln, XP_047288487.1:p.Pro425Arg, XP_047288487.1:p.Pro425Leu, XP_047288478.1:p.Pro433Gln, XP_047288478.1:p.Pro433Arg, XP_047288478.1:p.Pro433Leu, XP_047288480.1:p.Pro427Gln, XP_047288480.1:p.Pro427Arg, XP_047288480.1:p.Pro427Leu, XP_047288483.1:p.Pro431Gln, XP_047288483.1:p.Pro431Arg, XP_047288483.1:p.Pro431Leu, XP_047288481.1:p.Pro425Gln, XP_047288481.1:p.Pro425Arg, XP_047288481.1:p.Pro425Leu, XP_047288475.1:p.Pro439Gln, XP_047288475.1:p.Pro439Arg, XP_047288475.1:p.Pro439Leu, XP_047288482.1:p.Pro435Gln, XP_047288482.1:p.Pro435Arg, XP_047288482.1:p.Pro435Leu, XP_047288488.1:p.Pro367Gln, XP_047288488.1:p.Pro367Arg, XP_047288488.1:p.Pro367Leu

          5.

          rs1487761203 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            15:99710662 (GRCh38)
            15:100250867 (GRCh37)
            Canonical SPDI:
            NC_000015.10:99710661:A:G
            Gene:
            MEF2A (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.99710662A>G, NC_000015.9:g.100250867A>G, NG_016443.2:g.149735A>G, NM_005587.6:c.1020A>G, NM_005587.5:c.1020A>G, NM_005587.4:c.1020A>G, NM_005587.3:c.1020A>G, NM_005587.2:c.1020A>G, NM_001171894.5:c.1014A>G, NM_001171894.4:c.1014A>G, NM_001171894.3:c.1014A>G, NM_001171894.2:c.1014A>G, NM_001171894.1:c.1014A>G, NM_001130926.5:c.1014A>G, NM_001130926.4:c.1014A>G, NM_001130926.3:c.1014A>G, NM_001130926.2:c.1014A>G, NM_001130926.1:c.1014A>G, NM_001130927.5:c.834A>G, NM_001130927.4:c.834A>G, NM_001130927.3:c.834A>G, NM_001130927.2:c.834A>G, NM_001130927.1:c.834A>G, NM_001352615.4:c.1014A>G, NM_001352615.3:c.1014A>G, NM_001352615.2:c.1014A>G, NM_001352615.1:c.1014A>G, NM_001352617.4:c.1020A>G, NM_001352617.3:c.1020A>G, NM_001352617.2:c.1020A>G, NM_001352617.1:c.1020A>G, NM_001352614.4:c.1014A>G, NM_001352614.3:c.1014A>G, NM_001352614.2:c.1014A>G, NM_001352614.1:c.1014A>G, NM_001319206.4:c.1038A>G, NM_001319206.3:c.1038A>G, NM_001319206.2:c.1038A>G, NM_001319206.1:c.1038A>G, NM_001352618.4:c.1032A>G, NM_001352618.3:c.1032A>G, NM_001352618.2:c.1032A>G, NM_001352618.1:c.1032A>G, NM_001352616.4:c.1038A>G, NM_001352616.3:c.1038A>G, NM_001352616.2:c.1038A>G, NM_001352616.1:c.1038A>G, NM_001130928.4:c.810A>G, NM_001130928.3:c.810A>G, NM_001130928.2:c.810A>G, NM_001130928.1:c.810A>G, NM_001365201.3:c.1056A>G, NM_001365201.2:c.1056A>G, NM_001365201.1:c.1056A>G, NM_001365203.3:c.1044A>G, NM_001365203.2:c.1044A>G, NM_001365203.1:c.1044A>G, NM_001365208.3:c.1014A>G, NM_001365208.2:c.1014A>G, NM_001365208.1:c.1014A>G, NM_001365202.3:c.1056A>G, NM_001365202.2:c.1056A>G, NM_001365202.1:c.1056A>G, NM_001365204.3:c.1044A>G, NM_001365204.2:c.1044A>G, NM_001365204.1:c.1044A>G, NM_001365205.3:c.1038A>G, NM_001365205.2:c.1038A>G, NM_001365205.1:c.1038A>G, NM_001365206.3:c.1032A>G, NM_001365206.2:c.1032A>G, NM_001365206.1:c.1032A>G, NM_001365207.3:c.1020A>G, NM_001365207.2:c.1020A>G, NM_001365207.1:c.1020A>G, NM_001365209.3:c.834A>G, NM_001365209.2:c.834A>G, NM_001365209.1:c.834A>G, NM_001393561.3:c.210A>G, NM_001393561.2:c.210A>G, NM_001393561.1:c.210A>G, NM_001393558.2:c.816A>G, NM_001393558.1:c.816A>G, NM_001393559.2:c.810A>G, NM_001393559.1:c.810A>G, NM_001393560.2:c.699A>G, NM_001393560.1:c.699A>G, NM_001400063.1:c.1014A>G, NM_001400064.1:c.1014A>G, NM_001400057.1:c.1014A>G, NM_001400037.1:c.1032A>G, NM_001400040.1:c.1020A>G, NM_001400038.1:c.1020A>G, NM_001400032.1:c.1038A>G, NM_001400049.1:c.1020A>G, NM_001400050.1:c.1020A>G, NM_001400058.1:c.1014A>G, NM_001400028.1:c.1152A>G, NM_001400061.1:c.1014A>G, NM_001400035.1:c.1038A>G, NM_001400036.1:c.1038A>G, NM_001400031.1:c.1038A>G, NM_001400065.1:c.1014A>G, NM_001400039.1:c.1020A>G, NM_001400055.1:c.1014A>G, NM_001400059.1:c.1014A>G, NM_001400033.1:c.1038A>G, NM_001400053.1:c.1020A>G, NM_001400066.1:c.1014A>G, NM_001400056.1:c.1014A>G, NM_001400029.1:c.1044A>G, NM_001400062.1:c.1014A>G, NM_001400034.1:c.1038A>G, NM_001400052.1:c.1020A>G, NM_001400054.1:c.1014A>G, NM_001400030.1:c.1044A>G, NM_001400051.1:c.1020A>G, NM_001400060.1:c.1014A>G, NM_001400067.1:c.840A>G, NM_001400068.1:c.816A>G, NM_001400069.1:c.678A>G, XM_011521582.3:c.1044A>G, XM_011521582.2:c.1044A>G, XM_011521582.1:c.1044A>G, XM_011521572.3:c.1056A>G, XM_011521572.2:c.1056A>G, XM_011521572.1:c.1056A>G, XM_011521579.3:c.1056A>G, XM_011521579.2:c.1056A>G, XM_011521579.1:c.1056A>G, XM_011521577.3:c.1056A>G, XM_011521577.2:c.1056A>G, XM_011521577.1:c.1056A>G, XM_011521573.3:c.1056A>G, XM_011521573.2:c.1056A>G, XM_011521573.1:c.1056A>G, XM_011521585.3:c.852A>G, XM_011521585.2:c.852A>G, XM_011521585.1:c.852A>G, XM_047432530.1:c.1014A>G, XM_047432520.1:c.1056A>G, XM_047432521.1:c.1044A>G, XM_047432523.1:c.1032A>G, XM_047432529.1:c.1020A>G, XM_047432528.1:c.1020A>G, XM_047432531.1:c.1014A>G, XM_047432522.1:c.1038A>G, XM_047432524.1:c.1020A>G, XM_047432527.1:c.1032A>G, XM_047432525.1:c.1014A>G, XM_047432519.1:c.1056A>G, XM_047432526.1:c.1044A>G, XM_047432532.1:c.840A>G

            6.

            rs1483842858 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:99712447 (GRCh38)
              15:100252652 (GRCh37)
              Canonical SPDI:
              NC_000015.10:99712446:C:T
              Gene:
              MEF2A (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
              HGVS:
              NC_000015.10:g.99712447C>T, NC_000015.9:g.100252652C>T, NG_016443.2:g.151520C>T, NM_005587.6:c.1176C>T, NM_005587.5:c.1176C>T, NM_005587.4:c.1176C>T, NM_005587.3:c.1176C>T, NM_005587.2:c.1176C>T, NM_001171894.5:c.1170C>T, NM_001171894.4:c.1170C>T, NM_001171894.3:c.1170C>T, NM_001171894.2:c.1170C>T, NM_001171894.1:c.1170C>T, NM_001130926.5:c.1170C>T, NM_001130926.4:c.1170C>T, NM_001130926.3:c.1170C>T, NM_001130926.2:c.1170C>T, NM_001130926.1:c.1170C>T, NM_001130927.5:c.990C>T, NM_001130927.4:c.990C>T, NM_001130927.3:c.990C>T, NM_001130927.2:c.990C>T, NM_001130927.1:c.990C>T, NM_001352615.4:c.1170C>T, NM_001352615.3:c.1170C>T, NM_001352615.2:c.1170C>T, NM_001352615.1:c.1170C>T, NM_001352617.4:c.1176C>T, NM_001352617.3:c.1176C>T, NM_001352617.2:c.1176C>T, NM_001352617.1:c.1176C>T, NM_001352614.4:c.1170C>T, NM_001352614.3:c.1170C>T, NM_001352614.2:c.1170C>T, NM_001352614.1:c.1170C>T, NM_001319206.4:c.1194C>T, NM_001319206.3:c.1194C>T, NM_001319206.2:c.1194C>T, NM_001319206.1:c.1194C>T, NM_001352618.4:c.1188C>T, NM_001352618.3:c.1188C>T, NM_001352618.2:c.1188C>T, NM_001352618.1:c.1188C>T, NM_001352616.4:c.1194C>T, NM_001352616.3:c.1194C>T, NM_001352616.2:c.1194C>T, NM_001352616.1:c.1194C>T, NM_001130928.4:c.966C>T, NM_001130928.3:c.966C>T, NM_001130928.2:c.966C>T, NM_001130928.1:c.966C>T, NM_001365201.3:c.1212C>T, NM_001365201.2:c.1212C>T, NM_001365201.1:c.1212C>T, NM_001365203.3:c.1200C>T, NM_001365203.2:c.1200C>T, NM_001365203.1:c.1200C>T, NM_001365208.3:c.1170C>T, NM_001365208.2:c.1170C>T, NM_001365208.1:c.1170C>T, NM_001365202.3:c.1212C>T, NM_001365202.2:c.1212C>T, NM_001365202.1:c.1212C>T, NM_001365204.3:c.1200C>T, NM_001365204.2:c.1200C>T, NM_001365204.1:c.1200C>T, NM_001365205.3:c.1194C>T, NM_001365205.2:c.1194C>T, NM_001365205.1:c.1194C>T, NM_001365206.3:c.1188C>T, NM_001365206.2:c.1188C>T, NM_001365206.1:c.1188C>T, NM_001365207.3:c.1176C>T, NM_001365207.2:c.1176C>T, NM_001365207.1:c.1176C>T, NM_001365209.3:c.990C>T, NM_001365209.2:c.990C>T, NM_001365209.1:c.990C>T, NM_001393561.3:c.366C>T, NM_001393561.2:c.366C>T, NM_001393561.1:c.366C>T, NM_001393558.2:c.972C>T, NM_001393558.1:c.972C>T, NM_001393559.2:c.966C>T, NM_001393559.1:c.966C>T, NM_001393560.2:c.855C>T, NM_001393560.1:c.855C>T, NM_001400063.1:c.1170C>T, NM_001400064.1:c.1170C>T, NM_001400057.1:c.1170C>T, NM_001400037.1:c.1188C>T, NM_001400040.1:c.1176C>T, NM_001400038.1:c.1176C>T, NM_001400032.1:c.1194C>T, NM_001400049.1:c.1176C>T, NM_001400050.1:c.1176C>T, NM_001400058.1:c.1170C>T, NM_001400028.1:c.1308C>T, NM_001400061.1:c.1170C>T, NM_001400035.1:c.1194C>T, NM_001400036.1:c.1194C>T, NM_001400031.1:c.1194C>T, NM_001400065.1:c.1170C>T, NM_001400039.1:c.1176C>T, NM_001400055.1:c.1170C>T, NM_001400059.1:c.1170C>T, NM_001400033.1:c.1194C>T, NM_001400053.1:c.1176C>T, NM_001400066.1:c.1170C>T, NM_001400056.1:c.1170C>T, NM_001400029.1:c.1200C>T, NM_001400062.1:c.1170C>T, NM_001400034.1:c.1194C>T, NM_001400052.1:c.1176C>T, NM_001400054.1:c.1170C>T, NM_001400030.1:c.1200C>T, NM_001400051.1:c.1176C>T, NM_001400060.1:c.1170C>T, NM_001400067.1:c.996C>T, NM_001400068.1:c.972C>T, NM_001400069.1:c.834C>T, XM_011521582.3:c.1200C>T, XM_011521582.2:c.1200C>T, XM_011521582.1:c.1200C>T, XM_011521572.3:c.1212C>T, XM_011521572.2:c.1212C>T, XM_011521572.1:c.1212C>T, XM_011521579.3:c.1212C>T, XM_011521579.2:c.1212C>T, XM_011521579.1:c.1212C>T, XM_011521577.3:c.1212C>T, XM_011521577.2:c.1212C>T, XM_011521577.1:c.1212C>T, XM_011521573.3:c.1212C>T, XM_011521573.2:c.1212C>T, XM_011521573.1:c.1212C>T, XM_011521585.3:c.1008C>T, XM_011521585.2:c.1008C>T, XM_011521585.1:c.1008C>T, XM_047432530.1:c.1170C>T, XM_047432520.1:c.1212C>T, XM_047432521.1:c.1200C>T, XM_047432523.1:c.1188C>T, XM_047432529.1:c.1176C>T, XM_047432528.1:c.1176C>T, XM_047432531.1:c.1170C>T, XM_047432522.1:c.1194C>T, XM_047432524.1:c.1176C>T, XM_047432527.1:c.1188C>T, XM_047432525.1:c.1170C>T, XM_047432519.1:c.1212C>T, XM_047432526.1:c.1200C>T, XM_047432532.1:c.996C>T

              7.

              rs1482792222 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:99712441 (GRCh38)
                15:100252646 (GRCh37)
                Canonical SPDI:
                NC_000015.10:99712440:A:G
                Gene:
                MEF2A (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000111/1 (ALFA)
                G=0.000006/1 (GnomAD_exomes)
                HGVS:
                NC_000015.10:g.99712441A>G, NC_000015.9:g.100252646A>G, NG_016443.2:g.151514A>G, NM_005587.6:c.1170A>G, NM_005587.5:c.1170A>G, NM_005587.4:c.1170A>G, NM_005587.3:c.1170A>G, NM_005587.2:c.1170A>G, NM_001171894.5:c.1164A>G, NM_001171894.4:c.1164A>G, NM_001171894.3:c.1164A>G, NM_001171894.2:c.1164A>G, NM_001171894.1:c.1164A>G, NM_001130926.5:c.1164A>G, NM_001130926.4:c.1164A>G, NM_001130926.3:c.1164A>G, NM_001130926.2:c.1164A>G, NM_001130926.1:c.1164A>G, NM_001130927.5:c.984A>G, NM_001130927.4:c.984A>G, NM_001130927.3:c.984A>G, NM_001130927.2:c.984A>G, NM_001130927.1:c.984A>G, NM_001352615.4:c.1164A>G, NM_001352615.3:c.1164A>G, NM_001352615.2:c.1164A>G, NM_001352615.1:c.1164A>G, NM_001352617.4:c.1170A>G, NM_001352617.3:c.1170A>G, NM_001352617.2:c.1170A>G, NM_001352617.1:c.1170A>G, NM_001352614.4:c.1164A>G, NM_001352614.3:c.1164A>G, NM_001352614.2:c.1164A>G, NM_001352614.1:c.1164A>G, NM_001319206.4:c.1188A>G, NM_001319206.3:c.1188A>G, NM_001319206.2:c.1188A>G, NM_001319206.1:c.1188A>G, NM_001352618.4:c.1182A>G, NM_001352618.3:c.1182A>G, NM_001352618.2:c.1182A>G, NM_001352618.1:c.1182A>G, NM_001352616.4:c.1188A>G, NM_001352616.3:c.1188A>G, NM_001352616.2:c.1188A>G, NM_001352616.1:c.1188A>G, NM_001130928.4:c.960A>G, NM_001130928.3:c.960A>G, NM_001130928.2:c.960A>G, NM_001130928.1:c.960A>G, NM_001365201.3:c.1206A>G, NM_001365201.2:c.1206A>G, NM_001365201.1:c.1206A>G, NM_001365203.3:c.1194A>G, NM_001365203.2:c.1194A>G, NM_001365203.1:c.1194A>G, NM_001365208.3:c.1164A>G, NM_001365208.2:c.1164A>G, NM_001365208.1:c.1164A>G, NM_001365202.3:c.1206A>G, NM_001365202.2:c.1206A>G, NM_001365202.1:c.1206A>G, NM_001365204.3:c.1194A>G, NM_001365204.2:c.1194A>G, NM_001365204.1:c.1194A>G, NM_001365205.3:c.1188A>G, NM_001365205.2:c.1188A>G, NM_001365205.1:c.1188A>G, NM_001365206.3:c.1182A>G, NM_001365206.2:c.1182A>G, NM_001365206.1:c.1182A>G, NM_001365207.3:c.1170A>G, NM_001365207.2:c.1170A>G, NM_001365207.1:c.1170A>G, NM_001365209.3:c.984A>G, NM_001365209.2:c.984A>G, NM_001365209.1:c.984A>G, NM_001393561.3:c.360A>G, NM_001393561.2:c.360A>G, NM_001393561.1:c.360A>G, NM_001393558.2:c.966A>G, NM_001393558.1:c.966A>G, NM_001393559.2:c.960A>G, NM_001393559.1:c.960A>G, NM_001393560.2:c.849A>G, NM_001393560.1:c.849A>G, NM_001400063.1:c.1164A>G, NM_001400064.1:c.1164A>G, NM_001400057.1:c.1164A>G, NM_001400037.1:c.1182A>G, NM_001400040.1:c.1170A>G, NM_001400038.1:c.1170A>G, NM_001400032.1:c.1188A>G, NM_001400049.1:c.1170A>G, NM_001400050.1:c.1170A>G, NM_001400058.1:c.1164A>G, NM_001400028.1:c.1302A>G, NM_001400061.1:c.1164A>G, NM_001400035.1:c.1188A>G, NM_001400036.1:c.1188A>G, NM_001400031.1:c.1188A>G, NM_001400065.1:c.1164A>G, NM_001400039.1:c.1170A>G, NM_001400055.1:c.1164A>G, NM_001400059.1:c.1164A>G, NM_001400033.1:c.1188A>G, NM_001400053.1:c.1170A>G, NM_001400066.1:c.1164A>G, NM_001400056.1:c.1164A>G, NM_001400029.1:c.1194A>G, NM_001400062.1:c.1164A>G, NM_001400034.1:c.1188A>G, NM_001400052.1:c.1170A>G, NM_001400054.1:c.1164A>G, NM_001400030.1:c.1194A>G, NM_001400051.1:c.1170A>G, NM_001400060.1:c.1164A>G, NM_001400067.1:c.990A>G, NM_001400068.1:c.966A>G, NM_001400069.1:c.828A>G, XM_011521582.3:c.1194A>G, XM_011521582.2:c.1194A>G, XM_011521582.1:c.1194A>G, XM_011521572.3:c.1206A>G, XM_011521572.2:c.1206A>G, XM_011521572.1:c.1206A>G, XM_011521579.3:c.1206A>G, XM_011521579.2:c.1206A>G, XM_011521579.1:c.1206A>G, XM_011521577.3:c.1206A>G, XM_011521577.2:c.1206A>G, XM_011521577.1:c.1206A>G, XM_011521573.3:c.1206A>G, XM_011521573.2:c.1206A>G, XM_011521573.1:c.1206A>G, XM_011521585.3:c.1002A>G, XM_011521585.2:c.1002A>G, XM_011521585.1:c.1002A>G, XM_047432530.1:c.1164A>G, XM_047432520.1:c.1206A>G, XM_047432521.1:c.1194A>G, XM_047432523.1:c.1182A>G, XM_047432529.1:c.1170A>G, XM_047432528.1:c.1170A>G, XM_047432531.1:c.1164A>G, XM_047432522.1:c.1188A>G, XM_047432524.1:c.1170A>G, XM_047432527.1:c.1182A>G, XM_047432525.1:c.1164A>G, XM_047432519.1:c.1206A>G, XM_047432526.1:c.1194A>G, XM_047432532.1:c.990A>G

                8.

                rs1479398678 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  15:99674420 (GRCh38)
                  15:100214625 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:99674419:A:G
                  Gene:
                  MEF2A (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000015.10:g.99674420A>G, NC_000015.9:g.100214625A>G, NG_016443.2:g.113493A>G, NM_005587.6:c.424A>G, NM_005587.5:c.424A>G, NM_005587.4:c.424A>G, NM_005587.3:c.424A>G, NM_005587.2:c.424A>G, NM_001171894.5:c.418A>G, NM_001171894.4:c.418A>G, NM_001171894.3:c.418A>G, NM_001171894.2:c.418A>G, NM_001171894.1:c.418A>G, NM_001130926.5:c.418A>G, NM_001130926.4:c.418A>G, NM_001130926.3:c.418A>G, NM_001130926.2:c.418A>G, NM_001130926.1:c.418A>G, NM_001130927.5:c.214A>G, NM_001130927.4:c.214A>G, NM_001130927.3:c.214A>G, NM_001130927.2:c.214A>G, NM_001130927.1:c.214A>G, NM_001352615.4:c.418A>G, NM_001352615.3:c.418A>G, NM_001352615.2:c.418A>G, NM_001352615.1:c.418A>G, NM_001352617.4:c.424A>G, NM_001352617.3:c.424A>G, NM_001352617.2:c.424A>G, NM_001352617.1:c.424A>G, NM_001352614.4:c.418A>G, NM_001352614.3:c.418A>G, NM_001352614.2:c.418A>G, NM_001352614.1:c.418A>G, NM_001319206.4:c.418A>G, NM_001319206.3:c.418A>G, NM_001319206.2:c.418A>G, NM_001319206.1:c.418A>G, NM_001352618.4:c.436A>G, NM_001352618.3:c.436A>G, NM_001352618.2:c.436A>G, NM_001352618.1:c.436A>G, NM_001352616.4:c.418A>G, NM_001352616.3:c.418A>G, NM_001352616.2:c.418A>G, NM_001352616.1:c.418A>G, NM_001130928.4:c.214A>G, NM_001130928.3:c.214A>G, NM_001130928.2:c.214A>G, NM_001130928.1:c.214A>G, NM_001365201.3:c.436A>G, NM_001365201.2:c.436A>G, NM_001365201.1:c.436A>G, NM_001365203.3:c.424A>G, NM_001365203.2:c.424A>G, NM_001365203.1:c.424A>G, NM_001365208.3:c.418A>G, NM_001365208.2:c.418A>G, NM_001365208.1:c.418A>G, NM_001365202.3:c.436A>G, NM_001365202.2:c.436A>G, NM_001365202.1:c.436A>G, NM_001365204.3:c.424A>G, NM_001365204.2:c.424A>G, NM_001365204.1:c.424A>G, NM_001365205.3:c.418A>G, NM_001365205.2:c.418A>G, NM_001365205.1:c.418A>G, NM_001365206.3:c.436A>G, NM_001365206.2:c.436A>G, NM_001365206.1:c.436A>G, NM_001365207.3:c.424A>G, NM_001365207.2:c.424A>G, NM_001365207.1:c.424A>G, NM_001365209.3:c.214A>G, NM_001365209.2:c.214A>G, NM_001365209.1:c.214A>G, NM_001393558.2:c.220A>G, NM_001393558.1:c.220A>G, NM_001393559.2:c.214A>G, NM_001393559.1:c.214A>G, NM_001393560.2:c.418A>G, NM_001393560.1:c.418A>G, NM_001365210.2:c.424A>G, NM_001365210.1:c.424A>G, NM_001365211.2:c.418A>G, NM_001365211.1:c.418A>G, NM_001400063.1:c.418A>G, NM_001400064.1:c.418A>G, NM_001400057.1:c.418A>G, NM_001400037.1:c.436A>G, NM_001400040.1:c.424A>G, NM_001400038.1:c.424A>G, NM_001400032.1:c.418A>G, NM_001400049.1:c.424A>G, NM_001400050.1:c.424A>G, NM_001400058.1:c.418A>G, NM_001400028.1:c.556A>G, NM_001400061.1:c.418A>G, NM_001400035.1:c.418A>G, NM_001400036.1:c.418A>G, NM_001400031.1:c.418A>G, NM_001400065.1:c.418A>G, NM_001400039.1:c.424A>G, NM_001400055.1:c.418A>G, NM_001400059.1:c.418A>G, NM_001400033.1:c.418A>G, NM_001400053.1:c.424A>G, NM_001400066.1:c.418A>G, NM_001400056.1:c.418A>G, NM_001400029.1:c.424A>G, NM_001400062.1:c.418A>G, NM_001400034.1:c.418A>G, NM_001400052.1:c.424A>G, NM_001400054.1:c.418A>G, NM_001400030.1:c.424A>G, NM_001400051.1:c.424A>G, NM_001400060.1:c.418A>G, NM_001400067.1:c.220A>G, NM_001400068.1:c.220A>G, NM_001400069.1:c.82A>G, NM_001400071.1:c.418A>G, NM_001400070.1:c.418A>G, XM_011521582.3:c.424A>G, XM_011521582.2:c.424A>G, XM_011521582.1:c.424A>G, XM_011521572.3:c.436A>G, XM_011521572.2:c.436A>G, XM_011521572.1:c.436A>G, XM_011521579.3:c.436A>G, XM_011521579.2:c.436A>G, XM_011521579.1:c.436A>G, XM_011521577.3:c.436A>G, XM_011521577.2:c.436A>G, XM_011521577.1:c.436A>G, XM_011521573.3:c.436A>G, XM_011521573.2:c.436A>G, XM_011521573.1:c.436A>G, XM_011521585.3:c.232A>G, XM_011521585.2:c.232A>G, XM_011521585.1:c.232A>G, XM_047432530.1:c.418A>G, XM_047432520.1:c.436A>G, XM_047432521.1:c.424A>G, XM_047432523.1:c.436A>G, XM_047432529.1:c.424A>G, XM_047432528.1:c.424A>G, XM_047432531.1:c.418A>G, XM_047432522.1:c.418A>G, XM_047432524.1:c.424A>G, XM_047432527.1:c.436A>G, XM_047432525.1:c.418A>G, XM_047432519.1:c.436A>G, XM_047432526.1:c.424A>G, XM_047432532.1:c.220A>G, NP_005578.2:p.Met142Val, NP_001165365.1:p.Met140Val, NP_001124398.1:p.Met140Val, NP_001124399.1:p.Met72Val, NP_001339544.1:p.Met140Val, NP_001339546.1:p.Met142Val, NP_001339543.1:p.Met140Val, NP_001306135.1:p.Met140Val, NP_001339547.1:p.Met146Val, NP_001339545.1:p.Met140Val, NP_001124400.1:p.Met72Val, NP_001352130.1:p.Met146Val, NP_001352132.1:p.Met142Val, NP_001352137.1:p.Met140Val, NP_001352131.1:p.Met146Val, NP_001352133.1:p.Met142Val, NP_001352134.1:p.Met140Val, NP_001352135.1:p.Met146Val, NP_001352136.1:p.Met142Val, NP_001352138.1:p.Met72Val, NP_001380487.1:p.Met74Val, NP_001380488.1:p.Met72Val, NP_001380489.1:p.Met140Val, NP_001352139.1:p.Met142Val, NP_001352140.1:p.Met140Val, NP_001386992.1:p.Met140Val, NP_001386993.1:p.Met140Val, NP_001386986.1:p.Met140Val, NP_001386966.1:p.Met146Val, NP_001386969.1:p.Met142Val, NP_001386967.1:p.Met142Val, NP_001386961.1:p.Met140Val, NP_001386978.1:p.Met142Val, NP_001386979.1:p.Met142Val, NP_001386987.1:p.Met140Val, NP_001386957.1:p.Met186Val, NP_001386990.1:p.Met140Val, NP_001386964.1:p.Met140Val, NP_001386965.1:p.Met140Val, NP_001386960.1:p.Met140Val, NP_001386994.1:p.Met140Val, NP_001386968.1:p.Met142Val, NP_001386984.1:p.Met140Val, NP_001386988.1:p.Met140Val, NP_001386962.1:p.Met140Val, NP_001386982.1:p.Met142Val, NP_001386995.1:p.Met140Val, NP_001386985.1:p.Met140Val, NP_001386958.1:p.Met142Val, NP_001386991.1:p.Met140Val, NP_001386963.1:p.Met140Val, NP_001386981.1:p.Met142Val, NP_001386983.1:p.Met140Val, NP_001386959.1:p.Met142Val, NP_001386980.1:p.Met142Val, NP_001386989.1:p.Met140Val, NP_001386996.1:p.Met74Val, NP_001386997.1:p.Met74Val, NP_001386998.1:p.Met28Val, NP_001387000.1:p.Met140Val, NP_001386999.1:p.Met140Val, XP_011519884.1:p.Met142Val, XP_011519874.1:p.Met146Val, XP_011519881.1:p.Met146Val, XP_011519879.1:p.Met146Val, XP_011519875.1:p.Met146Val, XP_011519887.1:p.Met78Val, XP_047288486.1:p.Met140Val, XP_047288476.1:p.Met146Val, XP_047288477.1:p.Met142Val, XP_047288479.1:p.Met146Val, XP_047288485.1:p.Met142Val, XP_047288484.1:p.Met142Val, XP_047288487.1:p.Met140Val, XP_047288478.1:p.Met140Val, XP_047288480.1:p.Met142Val, XP_047288483.1:p.Met146Val, XP_047288481.1:p.Met140Val, XP_047288475.1:p.Met146Val, XP_047288482.1:p.Met142Val, XP_047288488.1:p.Met74Val

                  9.

                  rs1478461409 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AGCCGCCGC>- [Show Flanks]
                    Chromosome:
                    15:99712536 (GRCh38)
                    15:100252741 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:99712533:GCAGCCGCCGC:GC
                    Gene:
                    MEF2A (Varview)
                    Functional Consequence:
                    inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GC=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000008/1 (GnomAD)
                    HGVS:
                    NC_000015.10:g.99712536_99712544del, NC_000015.9:g.100252741_100252749del, NG_016443.2:g.151609_151617del, NM_005587.6:c.1265_1273del, NM_005587.5:c.1265_1273del, NM_005587.4:c.1265_1273del, NM_005587.3:c.1265_1273del, NM_005587.2:c.1265_1273del, NM_001171894.5:c.1259_1267del, NM_001171894.4:c.1259_1267del, NM_001171894.3:c.1259_1267del, NM_001171894.2:c.1259_1267del, NM_001171894.1:c.1259_1267del, NM_001130926.5:c.1259_1267del, NM_001130926.4:c.1259_1267del, NM_001130926.3:c.1259_1267del, NM_001130926.2:c.1259_1267del, NM_001130926.1:c.1259_1267del, NM_001130927.5:c.1079_1087del, NM_001130927.4:c.1079_1087del, NM_001130927.3:c.1079_1087del, NM_001130927.2:c.1079_1087del, NM_001130927.1:c.1079_1087del, NM_001352615.4:c.1259_1267del, NM_001352615.3:c.1259_1267del, NM_001352615.2:c.1259_1267del, NM_001352615.1:c.1259_1267del, NM_001352617.4:c.1265_1273del, NM_001352617.3:c.1265_1273del, NM_001352617.2:c.1265_1273del, NM_001352617.1:c.1265_1273del, NM_001352614.4:c.1259_1267del, NM_001352614.3:c.1259_1267del, NM_001352614.2:c.1259_1267del, NM_001352614.1:c.1259_1267del, NM_001319206.4:c.1283_1291del, NM_001319206.3:c.1283_1291del, NM_001319206.2:c.1283_1291del, NM_001319206.1:c.1283_1291del, NM_001352618.4:c.1277_1285del, NM_001352618.3:c.1277_1285del, NM_001352618.2:c.1277_1285del, NM_001352618.1:c.1277_1285del, NM_001352616.4:c.1283_1291del, NM_001352616.3:c.1283_1291del, NM_001352616.2:c.1283_1291del, NM_001352616.1:c.1283_1291del, NM_001130928.4:c.1055_1063del, NM_001130928.3:c.1055_1063del, NM_001130928.2:c.1055_1063del, NM_001130928.1:c.1055_1063del, NM_001365201.3:c.1301_1309del, NM_001365201.2:c.1301_1309del, NM_001365201.1:c.1301_1309del, NM_001365203.3:c.1289_1297del, NM_001365203.2:c.1289_1297del, NM_001365203.1:c.1289_1297del, NM_001365208.3:c.1259_1267del, NM_001365208.2:c.1259_1267del, NM_001365208.1:c.1259_1267del, NM_001365202.3:c.1301_1309del, NM_001365202.2:c.1301_1309del, NM_001365202.1:c.1301_1309del, NM_001365204.3:c.1289_1297del, NM_001365204.2:c.1289_1297del, NM_001365204.1:c.1289_1297del, NM_001365205.3:c.1283_1291del, NM_001365205.2:c.1283_1291del, NM_001365205.1:c.1283_1291del, NM_001365206.3:c.1277_1285del, NM_001365206.2:c.1277_1285del, NM_001365206.1:c.1277_1285del, NM_001365207.3:c.1265_1273del, NM_001365207.2:c.1265_1273del, NM_001365207.1:c.1265_1273del, NM_001365209.3:c.1079_1087del, NM_001365209.2:c.1079_1087del, NM_001365209.1:c.1079_1087del, NM_001393561.3:c.455_463del, NM_001393561.2:c.455_463del, NM_001393561.1:c.455_463del, NM_001393558.2:c.1061_1069del, NM_001393558.1:c.1061_1069del, NM_001393559.2:c.1055_1063del, NM_001393559.1:c.1055_1063del, NM_001393560.2:c.944_952del, NM_001393560.1:c.944_952del, NM_001400063.1:c.1259_1267del, NM_001400064.1:c.1259_1267del, NM_001400057.1:c.1259_1267del, NM_001400037.1:c.1277_1285del, NM_001400040.1:c.1265_1273del, NM_001400038.1:c.1265_1273del, NM_001400032.1:c.1283_1291del, NM_001400049.1:c.1265_1273del, NM_001400050.1:c.1265_1273del, NM_001400058.1:c.1259_1267del, NM_001400028.1:c.1397_1405del, NM_001400061.1:c.1259_1267del, NM_001400035.1:c.1283_1291del, NM_001400036.1:c.1283_1291del, NM_001400031.1:c.1283_1291del, NM_001400065.1:c.1259_1267del, NM_001400039.1:c.1265_1273del, NM_001400055.1:c.1259_1267del, NM_001400059.1:c.1259_1267del, NM_001400033.1:c.1283_1291del, NM_001400053.1:c.1265_1273del, NM_001400066.1:c.1259_1267del, NM_001400056.1:c.1259_1267del, NM_001400029.1:c.1289_1297del, NM_001400062.1:c.1259_1267del, NM_001400034.1:c.1283_1291del, NM_001400052.1:c.1265_1273del, NM_001400054.1:c.1259_1267del, NM_001400030.1:c.1289_1297del, NM_001400051.1:c.1265_1273del, NM_001400060.1:c.1259_1267del, NM_001400067.1:c.1085_1093del, NM_001400068.1:c.1061_1069del, NM_001400069.1:c.923_931del, XM_011521582.3:c.1289_1297del, XM_011521582.2:c.1289_1297del, XM_011521582.1:c.1289_1297del, XM_011521572.3:c.1301_1309del, XM_011521572.2:c.1301_1309del, XM_011521572.1:c.1301_1309del, XM_011521579.3:c.1301_1309del, XM_011521579.2:c.1301_1309del, XM_011521579.1:c.1301_1309del, XM_011521577.3:c.1301_1309del, XM_011521577.2:c.1301_1309del, XM_011521577.1:c.1301_1309del, XM_011521573.3:c.1301_1309del, XM_011521573.2:c.1301_1309del, XM_011521573.1:c.1301_1309del, XM_011521585.3:c.1097_1105del, XM_011521585.2:c.1097_1105del, XM_011521585.1:c.1097_1105del, XM_047432530.1:c.1259_1267del, XM_047432520.1:c.1301_1309del, XM_047432521.1:c.1289_1297del, XM_047432523.1:c.1277_1285del, XM_047432529.1:c.1265_1273del, XM_047432528.1:c.1265_1273del, XM_047432531.1:c.1259_1267del, XM_047432522.1:c.1283_1291del, XM_047432524.1:c.1265_1273del, XM_047432527.1:c.1277_1285del, XM_047432525.1:c.1259_1267del, XM_047432519.1:c.1301_1309del, XM_047432526.1:c.1289_1297del, XM_047432532.1:c.1085_1093del, NP_005578.2:p.Gln422_Pro424del, NP_001165365.1:p.Gln420_Pro422del, NP_001124398.1:p.Gln420_Pro422del, NP_001124399.1:p.Gln360_Pro362del, NP_001339544.1:p.Gln420_Pro422del, NP_001339546.1:p.Gln422_Pro424del, NP_001339543.1:p.Gln420_Pro422del, NP_001306135.1:p.Gln428_Pro430del, NP_001339547.1:p.Gln426_Pro428del, NP_001339545.1:p.Gln428_Pro430del, NP_001124400.1:p.Gln352_Pro354del, NP_001352130.1:p.Gln434_Pro436del, NP_001352132.1:p.Gln430_Pro432del, NP_001352137.1:p.Gln420_Pro422del, NP_001352131.1:p.Gln434_Pro436del, NP_001352133.1:p.Gln430_Pro432del, NP_001352134.1:p.Gln428_Pro430del, NP_001352135.1:p.Gln426_Pro428del, NP_001352136.1:p.Gln422_Pro424del, NP_001352138.1:p.Gln360_Pro362del, NP_001380490.1:p.Gln152_Pro154del, NP_001380487.1:p.Gln354_Pro356del, NP_001380488.1:p.Gln352_Pro354del, NP_001380489.1:p.Gln315_Pro317del, NP_001386992.1:p.Gln420_Pro422del, NP_001386993.1:p.Gln420_Pro422del, NP_001386986.1:p.Gln420_Pro422del, NP_001386966.1:p.Gln426_Pro428del, NP_001386969.1:p.Gln422_Pro424del, NP_001386967.1:p.Gln422_Pro424del, NP_001386961.1:p.Gln428_Pro430del, NP_001386978.1:p.Gln422_Pro424del, NP_001386979.1:p.Gln422_Pro424del, NP_001386987.1:p.Gln420_Pro422del, NP_001386957.1:p.Gln466_Pro468del, NP_001386990.1:p.Gln420_Pro422del, NP_001386964.1:p.Gln428_Pro430del, NP_001386965.1:p.Gln428_Pro430del, NP_001386960.1:p.Gln428_Pro430del, NP_001386994.1:p.Gln420_Pro422del, NP_001386968.1:p.Gln422_Pro424del, NP_001386984.1:p.Gln420_Pro422del, NP_001386988.1:p.Gln420_Pro422del, NP_001386962.1:p.Gln428_Pro430del, NP_001386982.1:p.Gln422_Pro424del, NP_001386995.1:p.Gln420_Pro422del, NP_001386985.1:p.Gln420_Pro422del, NP_001386958.1:p.Gln430_Pro432del, NP_001386991.1:p.Gln420_Pro422del, NP_001386963.1:p.Gln428_Pro430del, NP_001386981.1:p.Gln422_Pro424del, NP_001386983.1:p.Gln420_Pro422del, NP_001386959.1:p.Gln430_Pro432del, NP_001386980.1:p.Gln422_Pro424del, NP_001386989.1:p.Gln420_Pro422del, NP_001386996.1:p.Gln362_Pro364del, NP_001386997.1:p.Gln354_Pro356del, NP_001386998.1:p.Gln308_Pro310del, XP_011519884.1:p.Gln430_Pro432del, XP_011519874.1:p.Gln434_Pro436del, XP_011519881.1:p.Gln434_Pro436del, XP_011519879.1:p.Gln434_Pro436del, XP_011519875.1:p.Gln434_Pro436del, XP_011519887.1:p.Gln366_Pro368del, XP_047288486.1:p.Gln420_Pro422del, XP_047288476.1:p.Gln434_Pro436del, XP_047288477.1:p.Gln430_Pro432del, XP_047288479.1:p.Gln426_Pro428del, XP_047288485.1:p.Gln422_Pro424del, XP_047288484.1:p.Gln422_Pro424del, XP_047288487.1:p.Gln420_Pro422del, XP_047288478.1:p.Gln428_Pro430del, XP_047288480.1:p.Gln422_Pro424del, XP_047288483.1:p.Gln426_Pro428del, XP_047288481.1:p.Gln420_Pro422del, XP_047288475.1:p.Gln434_Pro436del, XP_047288482.1:p.Gln430_Pro432del, XP_047288488.1:p.Gln362_Pro364del

                    10.

                    rs1477902620 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:99690365 (GRCh38)
                      15:100230570 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:99690364:C:T
                      Gene:
                      MEF2A (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000047/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.99690365C>T, NC_000015.9:g.100230570C>T, NG_016443.2:g.129438C>T, NM_005587.6:c.801C>T, NM_005587.5:c.801C>T, NM_005587.4:c.801C>T, NM_005587.3:c.801C>T, NM_005587.2:c.801C>T, NM_001171894.5:c.795C>T, NM_001171894.4:c.795C>T, NM_001171894.3:c.795C>T, NM_001171894.2:c.795C>T, NM_001171894.1:c.795C>T, NM_001130926.5:c.795C>T, NM_001130926.4:c.795C>T, NM_001130926.3:c.795C>T, NM_001130926.2:c.795C>T, NM_001130926.1:c.795C>T, NM_001130927.5:c.591C>T, NM_001130927.4:c.591C>T, NM_001130927.3:c.591C>T, NM_001130927.2:c.591C>T, NM_001130927.1:c.591C>T, NM_001352615.4:c.795C>T, NM_001352615.3:c.795C>T, NM_001352615.2:c.795C>T, NM_001352615.1:c.795C>T, NM_001352617.4:c.801C>T, NM_001352617.3:c.801C>T, NM_001352617.2:c.801C>T, NM_001352617.1:c.801C>T, NM_001352614.4:c.795C>T, NM_001352614.3:c.795C>T, NM_001352614.2:c.795C>T, NM_001352614.1:c.795C>T, NM_001319206.4:c.795C>T, NM_001319206.3:c.795C>T, NM_001319206.2:c.795C>T, NM_001319206.1:c.795C>T, NM_001352618.4:c.813C>T, NM_001352618.3:c.813C>T, NM_001352618.2:c.813C>T, NM_001352618.1:c.813C>T, NM_001352616.4:c.795C>T, NM_001352616.3:c.795C>T, NM_001352616.2:c.795C>T, NM_001352616.1:c.795C>T, NM_001130928.4:c.591C>T, NM_001130928.3:c.591C>T, NM_001130928.2:c.591C>T, NM_001130928.1:c.591C>T, NM_001365201.3:c.813C>T, NM_001365201.2:c.813C>T, NM_001365201.1:c.813C>T, NM_001365203.3:c.801C>T, NM_001365203.2:c.801C>T, NM_001365203.1:c.801C>T, NM_001365208.3:c.795C>T, NM_001365208.2:c.795C>T, NM_001365208.1:c.795C>T, NM_001365202.3:c.813C>T, NM_001365202.2:c.813C>T, NM_001365202.1:c.813C>T, NM_001365204.3:c.801C>T, NM_001365204.2:c.801C>T, NM_001365204.1:c.801C>T, NM_001365205.3:c.795C>T, NM_001365205.2:c.795C>T, NM_001365205.1:c.795C>T, NM_001365206.3:c.813C>T, NM_001365206.2:c.813C>T, NM_001365206.1:c.813C>T, NM_001365207.3:c.801C>T, NM_001365207.2:c.801C>T, NM_001365207.1:c.801C>T, NM_001365209.3:c.591C>T, NM_001365209.2:c.591C>T, NM_001365209.1:c.591C>T, NM_001393558.2:c.597C>T, NM_001393558.1:c.597C>T, NM_001393559.2:c.591C>T, NM_001393559.1:c.591C>T, NM_001400063.1:c.795C>T, NM_001400064.1:c.795C>T, NM_001400057.1:c.795C>T, NM_001400037.1:c.813C>T, NM_001400040.1:c.801C>T, NM_001400038.1:c.801C>T, NM_001400032.1:c.795C>T, NM_001400049.1:c.801C>T, NM_001400050.1:c.801C>T, NM_001400058.1:c.795C>T, NM_001400028.1:c.933C>T, NM_001400061.1:c.795C>T, NM_001400035.1:c.795C>T, NM_001400036.1:c.795C>T, NM_001400031.1:c.795C>T, NM_001400065.1:c.795C>T, NM_001400039.1:c.801C>T, NM_001400055.1:c.795C>T, NM_001400059.1:c.795C>T, NM_001400033.1:c.795C>T, NM_001400053.1:c.801C>T, NM_001400066.1:c.795C>T, NM_001400056.1:c.795C>T, NM_001400029.1:c.801C>T, NM_001400062.1:c.795C>T, NM_001400034.1:c.795C>T, NM_001400052.1:c.801C>T, NM_001400054.1:c.795C>T, NM_001400030.1:c.801C>T, NM_001400051.1:c.801C>T, NM_001400060.1:c.795C>T, NM_001400067.1:c.597C>T, NM_001400068.1:c.597C>T, NM_001400069.1:c.459C>T, XM_011521582.3:c.801C>T, XM_011521582.2:c.801C>T, XM_011521582.1:c.801C>T, XM_011521572.3:c.813C>T, XM_011521572.2:c.813C>T, XM_011521572.1:c.813C>T, XM_011521579.3:c.813C>T, XM_011521579.2:c.813C>T, XM_011521579.1:c.813C>T, XM_011521577.3:c.813C>T, XM_011521577.2:c.813C>T, XM_011521577.1:c.813C>T, XM_011521573.3:c.813C>T, XM_011521573.2:c.813C>T, XM_011521573.1:c.813C>T, XM_011521585.3:c.609C>T, XM_011521585.2:c.609C>T, XM_011521585.1:c.609C>T, XM_047432530.1:c.795C>T, XM_047432520.1:c.813C>T, XM_047432521.1:c.801C>T, XM_047432523.1:c.813C>T, XM_047432529.1:c.801C>T, XM_047432528.1:c.801C>T, XM_047432531.1:c.795C>T, XM_047432522.1:c.795C>T, XM_047432524.1:c.801C>T, XM_047432527.1:c.813C>T, XM_047432525.1:c.795C>T, XM_047432519.1:c.813C>T, XM_047432526.1:c.801C>T, XM_047432532.1:c.597C>T

                      11.

                      rs1477329333 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:99712607 (GRCh38)
                        15:100252812 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:99712606:C:T
                        Gene:
                        MEF2A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000006/1 (GnomAD_exomes)
                        HGVS:
                        NC_000015.10:g.99712607C>T, NC_000015.9:g.100252812C>T, NG_016443.2:g.151680C>T, NM_005587.6:c.1336C>T, NM_005587.5:c.1336C>T, NM_005587.4:c.1336C>T, NM_005587.3:c.1336C>T, NM_005587.2:c.1336C>T, NM_001171894.5:c.1330C>T, NM_001171894.4:c.1330C>T, NM_001171894.3:c.1330C>T, NM_001171894.2:c.1330C>T, NM_001171894.1:c.1330C>T, NM_001130926.5:c.1330C>T, NM_001130926.4:c.1330C>T, NM_001130926.3:c.1330C>T, NM_001130926.2:c.1330C>T, NM_001130926.1:c.1330C>T, NM_001130927.5:c.1150C>T, NM_001130927.4:c.1150C>T, NM_001130927.3:c.1150C>T, NM_001130927.2:c.1150C>T, NM_001130927.1:c.1150C>T, NM_001352615.4:c.1330C>T, NM_001352615.3:c.1330C>T, NM_001352615.2:c.1330C>T, NM_001352615.1:c.1330C>T, NM_001352617.4:c.1336C>T, NM_001352617.3:c.1336C>T, NM_001352617.2:c.1336C>T, NM_001352617.1:c.1336C>T, NM_001352614.4:c.1330C>T, NM_001352614.3:c.1330C>T, NM_001352614.2:c.1330C>T, NM_001352614.1:c.1330C>T, NM_001319206.4:c.1354C>T, NM_001319206.3:c.1354C>T, NM_001319206.2:c.1354C>T, NM_001319206.1:c.1354C>T, NM_001352618.4:c.1348C>T, NM_001352618.3:c.1348C>T, NM_001352618.2:c.1348C>T, NM_001352618.1:c.1348C>T, NM_001352616.4:c.1354C>T, NM_001352616.3:c.1354C>T, NM_001352616.2:c.1354C>T, NM_001352616.1:c.1354C>T, NM_001130928.4:c.1126C>T, NM_001130928.3:c.1126C>T, NM_001130928.2:c.1126C>T, NM_001130928.1:c.1126C>T, NM_001365201.3:c.1372C>T, NM_001365201.2:c.1372C>T, NM_001365201.1:c.1372C>T, NM_001365203.3:c.1360C>T, NM_001365203.2:c.1360C>T, NM_001365203.1:c.1360C>T, NM_001365208.3:c.1330C>T, NM_001365208.2:c.1330C>T, NM_001365208.1:c.1330C>T, NM_001365202.3:c.1372C>T, NM_001365202.2:c.1372C>T, NM_001365202.1:c.1372C>T, NM_001365204.3:c.1360C>T, NM_001365204.2:c.1360C>T, NM_001365204.1:c.1360C>T, NM_001365205.3:c.1354C>T, NM_001365205.2:c.1354C>T, NM_001365205.1:c.1354C>T, NM_001365206.3:c.1348C>T, NM_001365206.2:c.1348C>T, NM_001365206.1:c.1348C>T, NM_001365207.3:c.1336C>T, NM_001365207.2:c.1336C>T, NM_001365207.1:c.1336C>T, NM_001365209.3:c.1150C>T, NM_001365209.2:c.1150C>T, NM_001365209.1:c.1150C>T, NM_001393561.3:c.526C>T, NM_001393561.2:c.526C>T, NM_001393561.1:c.526C>T, NM_001393558.2:c.1132C>T, NM_001393558.1:c.1132C>T, NM_001393559.2:c.1126C>T, NM_001393559.1:c.1126C>T, NM_001393560.2:c.1015C>T, NM_001393560.1:c.1015C>T, NM_001400063.1:c.1330C>T, NM_001400064.1:c.1330C>T, NM_001400057.1:c.1330C>T, NM_001400037.1:c.1348C>T, NM_001400040.1:c.1336C>T, NM_001400038.1:c.1336C>T, NM_001400032.1:c.1354C>T, NM_001400049.1:c.1336C>T, NM_001400050.1:c.1336C>T, NM_001400058.1:c.1330C>T, NM_001400028.1:c.1468C>T, NM_001400061.1:c.1330C>T, NM_001400035.1:c.1354C>T, NM_001400036.1:c.1354C>T, NM_001400031.1:c.1354C>T, NM_001400065.1:c.1330C>T, NM_001400039.1:c.1336C>T, NM_001400055.1:c.1330C>T, NM_001400059.1:c.1330C>T, NM_001400033.1:c.1354C>T, NM_001400053.1:c.1336C>T, NM_001400066.1:c.1330C>T, NM_001400056.1:c.1330C>T, NM_001400029.1:c.1360C>T, NM_001400062.1:c.1330C>T, NM_001400034.1:c.1354C>T, NM_001400052.1:c.1336C>T, NM_001400054.1:c.1330C>T, NM_001400030.1:c.1360C>T, NM_001400051.1:c.1336C>T, NM_001400060.1:c.1330C>T, NM_001400067.1:c.1156C>T, NM_001400068.1:c.1132C>T, NM_001400069.1:c.994C>T, XM_011521582.3:c.1360C>T, XM_011521582.2:c.1360C>T, XM_011521582.1:c.1360C>T, XM_011521572.3:c.1372C>T, XM_011521572.2:c.1372C>T, XM_011521572.1:c.1372C>T, XM_011521579.3:c.1372C>T, XM_011521579.2:c.1372C>T, XM_011521579.1:c.1372C>T, XM_011521577.3:c.1372C>T, XM_011521577.2:c.1372C>T, XM_011521577.1:c.1372C>T, XM_011521573.3:c.1372C>T, XM_011521573.2:c.1372C>T, XM_011521573.1:c.1372C>T, XM_011521585.3:c.1168C>T, XM_011521585.2:c.1168C>T, XM_011521585.1:c.1168C>T, XM_047432530.1:c.1330C>T, XM_047432520.1:c.1372C>T, XM_047432521.1:c.1360C>T, XM_047432523.1:c.1348C>T, XM_047432529.1:c.1336C>T, XM_047432528.1:c.1336C>T, XM_047432531.1:c.1330C>T, XM_047432522.1:c.1354C>T, XM_047432524.1:c.1336C>T, XM_047432527.1:c.1348C>T, XM_047432525.1:c.1330C>T, XM_047432519.1:c.1372C>T, XM_047432526.1:c.1360C>T, XM_047432532.1:c.1156C>T, NP_005578.2:p.Pro446Ser, NP_001165365.1:p.Pro444Ser, NP_001124398.1:p.Pro444Ser, NP_001124399.1:p.Pro384Ser, NP_001339544.1:p.Pro444Ser, NP_001339546.1:p.Pro446Ser, NP_001339543.1:p.Pro444Ser, NP_001306135.1:p.Pro452Ser, NP_001339547.1:p.Pro450Ser, NP_001339545.1:p.Pro452Ser, NP_001124400.1:p.Pro376Ser, NP_001352130.1:p.Pro458Ser, NP_001352132.1:p.Pro454Ser, NP_001352137.1:p.Pro444Ser, NP_001352131.1:p.Pro458Ser, NP_001352133.1:p.Pro454Ser, NP_001352134.1:p.Pro452Ser, NP_001352135.1:p.Pro450Ser, NP_001352136.1:p.Pro446Ser, NP_001352138.1:p.Pro384Ser, NP_001380490.1:p.Pro176Ser, NP_001380487.1:p.Pro378Ser, NP_001380488.1:p.Pro376Ser, NP_001380489.1:p.Pro339Ser, NP_001386992.1:p.Pro444Ser, NP_001386993.1:p.Pro444Ser, NP_001386986.1:p.Pro444Ser, NP_001386966.1:p.Pro450Ser, NP_001386969.1:p.Pro446Ser, NP_001386967.1:p.Pro446Ser, NP_001386961.1:p.Pro452Ser, NP_001386978.1:p.Pro446Ser, NP_001386979.1:p.Pro446Ser, NP_001386987.1:p.Pro444Ser, NP_001386957.1:p.Pro490Ser, NP_001386990.1:p.Pro444Ser, NP_001386964.1:p.Pro452Ser, NP_001386965.1:p.Pro452Ser, NP_001386960.1:p.Pro452Ser, NP_001386994.1:p.Pro444Ser, NP_001386968.1:p.Pro446Ser, NP_001386984.1:p.Pro444Ser, NP_001386988.1:p.Pro444Ser, NP_001386962.1:p.Pro452Ser, NP_001386982.1:p.Pro446Ser, NP_001386995.1:p.Pro444Ser, NP_001386985.1:p.Pro444Ser, NP_001386958.1:p.Pro454Ser, NP_001386991.1:p.Pro444Ser, NP_001386963.1:p.Pro452Ser, NP_001386981.1:p.Pro446Ser, NP_001386983.1:p.Pro444Ser, NP_001386959.1:p.Pro454Ser, NP_001386980.1:p.Pro446Ser, NP_001386989.1:p.Pro444Ser, NP_001386996.1:p.Pro386Ser, NP_001386997.1:p.Pro378Ser, NP_001386998.1:p.Pro332Ser, XP_011519884.1:p.Pro454Ser, XP_011519874.1:p.Pro458Ser, XP_011519881.1:p.Pro458Ser, XP_011519879.1:p.Pro458Ser, XP_011519875.1:p.Pro458Ser, XP_011519887.1:p.Pro390Ser, XP_047288486.1:p.Pro444Ser, XP_047288476.1:p.Pro458Ser, XP_047288477.1:p.Pro454Ser, XP_047288479.1:p.Pro450Ser, XP_047288485.1:p.Pro446Ser, XP_047288484.1:p.Pro446Ser, XP_047288487.1:p.Pro444Ser, XP_047288478.1:p.Pro452Ser, XP_047288480.1:p.Pro446Ser, XP_047288483.1:p.Pro450Ser, XP_047288481.1:p.Pro444Ser, XP_047288475.1:p.Pro458Ser, XP_047288482.1:p.Pro454Ser, XP_047288488.1:p.Pro386Ser

                        12.

                        rs1476923080 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          15:99712476 (GRCh38)
                          15:100252681 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:99712475:C:G
                          Gene:
                          MEF2A (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000028/1 (ALFA)
                          G=0.000011/3 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000015.10:g.99712476C>G, NC_000015.9:g.100252681C>G, NG_016443.2:g.151549C>G, NM_005587.6:c.1205C>G, NM_005587.5:c.1205C>G, NM_005587.4:c.1205C>G, NM_005587.3:c.1205C>G, NM_005587.2:c.1205C>G, NM_001171894.5:c.1199C>G, NM_001171894.4:c.1199C>G, NM_001171894.3:c.1199C>G, NM_001171894.2:c.1199C>G, NM_001171894.1:c.1199C>G, NM_001130926.5:c.1199C>G, NM_001130926.4:c.1199C>G, NM_001130926.3:c.1199C>G, NM_001130926.2:c.1199C>G, NM_001130926.1:c.1199C>G, NM_001130927.5:c.1019C>G, NM_001130927.4:c.1019C>G, NM_001130927.3:c.1019C>G, NM_001130927.2:c.1019C>G, NM_001130927.1:c.1019C>G, NM_001352615.4:c.1199C>G, NM_001352615.3:c.1199C>G, NM_001352615.2:c.1199C>G, NM_001352615.1:c.1199C>G, NM_001352617.4:c.1205C>G, NM_001352617.3:c.1205C>G, NM_001352617.2:c.1205C>G, NM_001352617.1:c.1205C>G, NM_001352614.4:c.1199C>G, NM_001352614.3:c.1199C>G, NM_001352614.2:c.1199C>G, NM_001352614.1:c.1199C>G, NM_001319206.4:c.1223C>G, NM_001319206.3:c.1223C>G, NM_001319206.2:c.1223C>G, NM_001319206.1:c.1223C>G, NM_001352618.4:c.1217C>G, NM_001352618.3:c.1217C>G, NM_001352618.2:c.1217C>G, NM_001352618.1:c.1217C>G, NM_001352616.4:c.1223C>G, NM_001352616.3:c.1223C>G, NM_001352616.2:c.1223C>G, NM_001352616.1:c.1223C>G, NM_001130928.4:c.995C>G, NM_001130928.3:c.995C>G, NM_001130928.2:c.995C>G, NM_001130928.1:c.995C>G, NM_001365201.3:c.1241C>G, NM_001365201.2:c.1241C>G, NM_001365201.1:c.1241C>G, NM_001365203.3:c.1229C>G, NM_001365203.2:c.1229C>G, NM_001365203.1:c.1229C>G, NM_001365208.3:c.1199C>G, NM_001365208.2:c.1199C>G, NM_001365208.1:c.1199C>G, NM_001365202.3:c.1241C>G, NM_001365202.2:c.1241C>G, NM_001365202.1:c.1241C>G, NM_001365204.3:c.1229C>G, NM_001365204.2:c.1229C>G, NM_001365204.1:c.1229C>G, NM_001365205.3:c.1223C>G, NM_001365205.2:c.1223C>G, NM_001365205.1:c.1223C>G, NM_001365206.3:c.1217C>G, NM_001365206.2:c.1217C>G, NM_001365206.1:c.1217C>G, NM_001365207.3:c.1205C>G, NM_001365207.2:c.1205C>G, NM_001365207.1:c.1205C>G, NM_001365209.3:c.1019C>G, NM_001365209.2:c.1019C>G, NM_001365209.1:c.1019C>G, NM_001393561.3:c.395C>G, NM_001393561.2:c.395C>G, NM_001393561.1:c.395C>G, NM_001393558.2:c.1001C>G, NM_001393558.1:c.1001C>G, NM_001393559.2:c.995C>G, NM_001393559.1:c.995C>G, NM_001393560.2:c.884C>G, NM_001393560.1:c.884C>G, NM_001400063.1:c.1199C>G, NM_001400064.1:c.1199C>G, NM_001400057.1:c.1199C>G, NM_001400037.1:c.1217C>G, NM_001400040.1:c.1205C>G, NM_001400038.1:c.1205C>G, NM_001400032.1:c.1223C>G, NM_001400049.1:c.1205C>G, NM_001400050.1:c.1205C>G, NM_001400058.1:c.1199C>G, NM_001400028.1:c.1337C>G, NM_001400061.1:c.1199C>G, NM_001400035.1:c.1223C>G, NM_001400036.1:c.1223C>G, NM_001400031.1:c.1223C>G, NM_001400065.1:c.1199C>G, NM_001400039.1:c.1205C>G, NM_001400055.1:c.1199C>G, NM_001400059.1:c.1199C>G, NM_001400033.1:c.1223C>G, NM_001400053.1:c.1205C>G, NM_001400066.1:c.1199C>G, NM_001400056.1:c.1199C>G, NM_001400029.1:c.1229C>G, NM_001400062.1:c.1199C>G, NM_001400034.1:c.1223C>G, NM_001400052.1:c.1205C>G, NM_001400054.1:c.1199C>G, NM_001400030.1:c.1229C>G, NM_001400051.1:c.1205C>G, NM_001400060.1:c.1199C>G, NM_001400067.1:c.1025C>G, NM_001400068.1:c.1001C>G, NM_001400069.1:c.863C>G, XM_011521582.3:c.1229C>G, XM_011521582.2:c.1229C>G, XM_011521582.1:c.1229C>G, XM_011521572.3:c.1241C>G, XM_011521572.2:c.1241C>G, XM_011521572.1:c.1241C>G, XM_011521579.3:c.1241C>G, XM_011521579.2:c.1241C>G, XM_011521579.1:c.1241C>G, XM_011521577.3:c.1241C>G, XM_011521577.2:c.1241C>G, XM_011521577.1:c.1241C>G, XM_011521573.3:c.1241C>G, XM_011521573.2:c.1241C>G, XM_011521573.1:c.1241C>G, XM_011521585.3:c.1037C>G, XM_011521585.2:c.1037C>G, XM_011521585.1:c.1037C>G, XM_047432530.1:c.1199C>G, XM_047432520.1:c.1241C>G, XM_047432521.1:c.1229C>G, XM_047432523.1:c.1217C>G, XM_047432529.1:c.1205C>G, XM_047432528.1:c.1205C>G, XM_047432531.1:c.1199C>G, XM_047432522.1:c.1223C>G, XM_047432524.1:c.1205C>G, XM_047432527.1:c.1217C>G, XM_047432525.1:c.1199C>G, XM_047432519.1:c.1241C>G, XM_047432526.1:c.1229C>G, XM_047432532.1:c.1025C>G, NP_005578.2:p.Pro402Arg, NP_001165365.1:p.Pro400Arg, NP_001124398.1:p.Pro400Arg, NP_001124399.1:p.Pro340Arg, NP_001339544.1:p.Pro400Arg, NP_001339546.1:p.Pro402Arg, NP_001339543.1:p.Pro400Arg, NP_001306135.1:p.Pro408Arg, NP_001339547.1:p.Pro406Arg, NP_001339545.1:p.Pro408Arg, NP_001124400.1:p.Pro332Arg, NP_001352130.1:p.Pro414Arg, NP_001352132.1:p.Pro410Arg, NP_001352137.1:p.Pro400Arg, NP_001352131.1:p.Pro414Arg, NP_001352133.1:p.Pro410Arg, NP_001352134.1:p.Pro408Arg, NP_001352135.1:p.Pro406Arg, NP_001352136.1:p.Pro402Arg, NP_001352138.1:p.Pro340Arg, NP_001380490.1:p.Pro132Arg, NP_001380487.1:p.Pro334Arg, NP_001380488.1:p.Pro332Arg, NP_001380489.1:p.Pro295Arg, NP_001386992.1:p.Pro400Arg, NP_001386993.1:p.Pro400Arg, NP_001386986.1:p.Pro400Arg, NP_001386966.1:p.Pro406Arg, NP_001386969.1:p.Pro402Arg, NP_001386967.1:p.Pro402Arg, NP_001386961.1:p.Pro408Arg, NP_001386978.1:p.Pro402Arg, NP_001386979.1:p.Pro402Arg, NP_001386987.1:p.Pro400Arg, NP_001386957.1:p.Pro446Arg, NP_001386990.1:p.Pro400Arg, NP_001386964.1:p.Pro408Arg, NP_001386965.1:p.Pro408Arg, NP_001386960.1:p.Pro408Arg, NP_001386994.1:p.Pro400Arg, NP_001386968.1:p.Pro402Arg, NP_001386984.1:p.Pro400Arg, NP_001386988.1:p.Pro400Arg, NP_001386962.1:p.Pro408Arg, NP_001386982.1:p.Pro402Arg, NP_001386995.1:p.Pro400Arg, NP_001386985.1:p.Pro400Arg, NP_001386958.1:p.Pro410Arg, NP_001386991.1:p.Pro400Arg, NP_001386963.1:p.Pro408Arg, NP_001386981.1:p.Pro402Arg, NP_001386983.1:p.Pro400Arg, NP_001386959.1:p.Pro410Arg, NP_001386980.1:p.Pro402Arg, NP_001386989.1:p.Pro400Arg, NP_001386996.1:p.Pro342Arg, NP_001386997.1:p.Pro334Arg, NP_001386998.1:p.Pro288Arg, XP_011519884.1:p.Pro410Arg, XP_011519874.1:p.Pro414Arg, XP_011519881.1:p.Pro414Arg, XP_011519879.1:p.Pro414Arg, XP_011519875.1:p.Pro414Arg, XP_011519887.1:p.Pro346Arg, XP_047288486.1:p.Pro400Arg, XP_047288476.1:p.Pro414Arg, XP_047288477.1:p.Pro410Arg, XP_047288479.1:p.Pro406Arg, XP_047288485.1:p.Pro402Arg, XP_047288484.1:p.Pro402Arg, XP_047288487.1:p.Pro400Arg, XP_047288478.1:p.Pro408Arg, XP_047288480.1:p.Pro402Arg, XP_047288483.1:p.Pro406Arg, XP_047288481.1:p.Pro400Arg, XP_047288475.1:p.Pro414Arg, XP_047288482.1:p.Pro410Arg, XP_047288488.1:p.Pro342Arg

                          13.

                          rs1476309226 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            15:99671341 (GRCh38)
                            15:100211546 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:99671340:C:G
                            Gene:
                            MEF2A (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000015.10:g.99671341C>G, NC_000015.9:g.100211546C>G, NG_016443.2:g.110414C>G, NM_001171894.5:c.277C>G, NM_001171894.4:c.277C>G, NM_001171894.3:c.277C>G, NM_001171894.2:c.277C>G, NM_001171894.1:c.277C>G, NM_001130926.5:c.277C>G, NM_001130926.4:c.277C>G, NM_001130926.3:c.277C>G, NM_001130926.2:c.277C>G, NM_001130926.1:c.277C>G, NM_001130927.5:c.73C>G, NM_001130927.4:c.73C>G, NM_001130927.3:c.73C>G, NM_001130927.2:c.73C>G, NM_001130927.1:c.73C>G, NM_001352615.4:c.277C>G, NM_001352615.3:c.277C>G, NM_001352615.2:c.277C>G, NM_001352615.1:c.277C>G, NM_001352614.4:c.277C>G, NM_001352614.3:c.277C>G, NM_001352614.2:c.277C>G, NM_001352614.1:c.277C>G, NM_001319206.4:c.277C>G, NM_001319206.3:c.277C>G, NM_001319206.2:c.277C>G, NM_001319206.1:c.277C>G, NM_001352616.4:c.277C>G, NM_001352616.3:c.277C>G, NM_001352616.2:c.277C>G, NM_001352616.1:c.277C>G, NM_001130928.4:c.73C>G, NM_001130928.3:c.73C>G, NM_001130928.2:c.73C>G, NM_001130928.1:c.73C>G, NM_001365208.3:c.277C>G, NM_001365208.2:c.277C>G, NM_001365208.1:c.277C>G, NM_001365205.3:c.277C>G, NM_001365205.2:c.277C>G, NM_001365205.1:c.277C>G, NM_001365209.3:c.73C>G, NM_001365209.2:c.73C>G, NM_001365209.1:c.73C>G, NM_001393559.2:c.73C>G, NM_001393559.1:c.73C>G, NM_001393560.2:c.277C>G, NM_001393560.1:c.277C>G, NM_001365211.2:c.277C>G, NM_001365211.1:c.277C>G, NM_001400063.1:c.277C>G, NM_001400064.1:c.277C>G, NM_001400057.1:c.277C>G, NM_001400032.1:c.277C>G, NM_001400058.1:c.277C>G, NM_001400028.1:c.277C>G, NM_001400061.1:c.277C>G, NM_001400035.1:c.277C>G, NM_001400036.1:c.277C>G, NM_001400031.1:c.277C>G, NM_001400065.1:c.277C>G, NM_001400055.1:c.277C>G, NM_001400059.1:c.277C>G, NM_001400033.1:c.277C>G, NM_001400066.1:c.277C>G, NM_001400056.1:c.277C>G, NM_001400062.1:c.277C>G, NM_001400034.1:c.277C>G, NM_001400054.1:c.277C>G, NM_001400060.1:c.277C>G, NM_001400071.1:c.277C>G, NM_001400070.1:c.277C>G, XM_047432530.1:c.277C>G, XM_047432531.1:c.277C>G, XM_047432522.1:c.277C>G, XM_047432525.1:c.277C>G, NP_001165365.1:p.Leu93Val, NP_001124398.1:p.Leu93Val, NP_001124399.1:p.Leu25Val, NP_001339544.1:p.Leu93Val, NP_001339543.1:p.Leu93Val, NP_001306135.1:p.Leu93Val, NP_001339545.1:p.Leu93Val, NP_001124400.1:p.Leu25Val, NP_001352137.1:p.Leu93Val, NP_001352134.1:p.Leu93Val, NP_001352138.1:p.Leu25Val, NP_001380488.1:p.Leu25Val, NP_001380489.1:p.Leu93Val, NP_001352140.1:p.Leu93Val, NP_001386992.1:p.Leu93Val, NP_001386993.1:p.Leu93Val, NP_001386986.1:p.Leu93Val, NP_001386961.1:p.Leu93Val, NP_001386987.1:p.Leu93Val, NP_001386957.1:p.Leu93Val, NP_001386990.1:p.Leu93Val, NP_001386964.1:p.Leu93Val, NP_001386965.1:p.Leu93Val, NP_001386960.1:p.Leu93Val, NP_001386994.1:p.Leu93Val, NP_001386984.1:p.Leu93Val, NP_001386988.1:p.Leu93Val, NP_001386962.1:p.Leu93Val, NP_001386995.1:p.Leu93Val, NP_001386985.1:p.Leu93Val, NP_001386991.1:p.Leu93Val, NP_001386963.1:p.Leu93Val, NP_001386983.1:p.Leu93Val, NP_001386989.1:p.Leu93Val, NP_001387000.1:p.Leu93Val, NP_001386999.1:p.Leu93Val, XP_047288486.1:p.Leu93Val, XP_047288487.1:p.Leu93Val, XP_047288478.1:p.Leu93Val, XP_047288481.1:p.Leu93Val

                            14.

                            rs1473473476 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->AG [Show Flanks]
                              Chromosome:
                              15:99712538 (GRCh38)
                              15:100252744 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:99712538::AG
                              Gene:
                              MEF2A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              AG=0.000087/12 (GnomAD)
                              HGVS:
                              NC_000015.10:g.99712538_99712539insAG, NC_000015.9:g.100252743_100252744insAG, NG_016443.2:g.151611_151612insAG, NM_005587.6:c.1267_1268insAG, NM_005587.5:c.1267_1268insAG, NM_005587.4:c.1267_1268insAG, NM_005587.3:c.1267_1268insAG, NM_005587.2:c.1267_1268insAG, NM_001171894.5:c.1261_1262insAG, NM_001171894.4:c.1261_1262insAG, NM_001171894.3:c.1261_1262insAG, NM_001171894.2:c.1261_1262insAG, NM_001171894.1:c.1261_1262insAG, NM_001130926.5:c.1261_1262insAG, NM_001130926.4:c.1261_1262insAG, NM_001130926.3:c.1261_1262insAG, NM_001130926.2:c.1261_1262insAG, NM_001130926.1:c.1261_1262insAG, NM_001130927.5:c.1081_1082insAG, NM_001130927.4:c.1081_1082insAG, NM_001130927.3:c.1081_1082insAG, NM_001130927.2:c.1081_1082insAG, NM_001130927.1:c.1081_1082insAG, NM_001352615.4:c.1261_1262insAG, NM_001352615.3:c.1261_1262insAG, NM_001352615.2:c.1261_1262insAG, NM_001352615.1:c.1261_1262insAG, NM_001352617.4:c.1267_1268insAG, NM_001352617.3:c.1267_1268insAG, NM_001352617.2:c.1267_1268insAG, NM_001352617.1:c.1267_1268insAG, NM_001352614.4:c.1261_1262insAG, NM_001352614.3:c.1261_1262insAG, NM_001352614.2:c.1261_1262insAG, NM_001352614.1:c.1261_1262insAG, NM_001319206.4:c.1285_1286insAG, NM_001319206.3:c.1285_1286insAG, NM_001319206.2:c.1285_1286insAG, NM_001319206.1:c.1285_1286insAG, NM_001352618.4:c.1279_1280insAG, NM_001352618.3:c.1279_1280insAG, NM_001352618.2:c.1279_1280insAG, NM_001352618.1:c.1279_1280insAG, NM_001352616.4:c.1285_1286insAG, NM_001352616.3:c.1285_1286insAG, NM_001352616.2:c.1285_1286insAG, NM_001352616.1:c.1285_1286insAG, NM_001130928.4:c.1057_1058insAG, NM_001130928.3:c.1057_1058insAG, NM_001130928.2:c.1057_1058insAG, NM_001130928.1:c.1057_1058insAG, NM_001365201.3:c.1303_1304insAG, NM_001365201.2:c.1303_1304insAG, NM_001365201.1:c.1303_1304insAG, NM_001365203.3:c.1291_1292insAG, NM_001365203.2:c.1291_1292insAG, NM_001365203.1:c.1291_1292insAG, NM_001365208.3:c.1261_1262insAG, NM_001365208.2:c.1261_1262insAG, NM_001365208.1:c.1261_1262insAG, NM_001365202.3:c.1303_1304insAG, NM_001365202.2:c.1303_1304insAG, NM_001365202.1:c.1303_1304insAG, NM_001365204.3:c.1291_1292insAG, NM_001365204.2:c.1291_1292insAG, NM_001365204.1:c.1291_1292insAG, NM_001365205.3:c.1285_1286insAG, NM_001365205.2:c.1285_1286insAG, NM_001365205.1:c.1285_1286insAG, NM_001365206.3:c.1279_1280insAG, NM_001365206.2:c.1279_1280insAG, NM_001365206.1:c.1279_1280insAG, NM_001365207.3:c.1267_1268insAG, NM_001365207.2:c.1267_1268insAG, NM_001365207.1:c.1267_1268insAG, NM_001365209.3:c.1081_1082insAG, NM_001365209.2:c.1081_1082insAG, NM_001365209.1:c.1081_1082insAG, NM_001393561.3:c.457_458insAG, NM_001393561.2:c.457_458insAG, NM_001393561.1:c.457_458insAG, NM_001393558.2:c.1063_1064insAG, NM_001393558.1:c.1063_1064insAG, NM_001393559.2:c.1057_1058insAG, NM_001393559.1:c.1057_1058insAG, NM_001393560.2:c.946_947insAG, NM_001393560.1:c.946_947insAG, NM_001400063.1:c.1261_1262insAG, NM_001400064.1:c.1261_1262insAG, NM_001400057.1:c.1261_1262insAG, NM_001400037.1:c.1279_1280insAG, NM_001400040.1:c.1267_1268insAG, NM_001400038.1:c.1267_1268insAG, NM_001400032.1:c.1285_1286insAG, NM_001400049.1:c.1267_1268insAG, NM_001400050.1:c.1267_1268insAG, NM_001400058.1:c.1261_1262insAG, NM_001400028.1:c.1399_1400insAG, NM_001400061.1:c.1261_1262insAG, NM_001400035.1:c.1285_1286insAG, NM_001400036.1:c.1285_1286insAG, NM_001400031.1:c.1285_1286insAG, NM_001400065.1:c.1261_1262insAG, NM_001400039.1:c.1267_1268insAG, NM_001400055.1:c.1261_1262insAG, NM_001400059.1:c.1261_1262insAG, NM_001400033.1:c.1285_1286insAG, NM_001400053.1:c.1267_1268insAG, NM_001400066.1:c.1261_1262insAG, NM_001400056.1:c.1261_1262insAG, NM_001400029.1:c.1291_1292insAG, NM_001400062.1:c.1261_1262insAG, NM_001400034.1:c.1285_1286insAG, NM_001400052.1:c.1267_1268insAG, NM_001400054.1:c.1261_1262insAG, NM_001400030.1:c.1291_1292insAG, NM_001400051.1:c.1267_1268insAG, NM_001400060.1:c.1261_1262insAG, NM_001400067.1:c.1087_1088insAG, NM_001400068.1:c.1063_1064insAG, NM_001400069.1:c.925_926insAG, XM_011521582.3:c.1291_1292insAG, XM_011521582.2:c.1291_1292insAG, XM_011521582.1:c.1291_1292insAG, XM_011521572.3:c.1303_1304insAG, XM_011521572.2:c.1303_1304insAG, XM_011521572.1:c.1303_1304insAG, XM_011521579.3:c.1303_1304insAG, XM_011521579.2:c.1303_1304insAG, XM_011521579.1:c.1303_1304insAG, XM_011521577.3:c.1303_1304insAG, XM_011521577.2:c.1303_1304insAG, XM_011521577.1:c.1303_1304insAG, XM_011521573.3:c.1303_1304insAG, XM_011521573.2:c.1303_1304insAG, XM_011521573.1:c.1303_1304insAG, XM_011521585.3:c.1099_1100insAG, XM_011521585.2:c.1099_1100insAG, XM_011521585.1:c.1099_1100insAG, XM_047432530.1:c.1261_1262insAG, XM_047432520.1:c.1303_1304insAG, XM_047432521.1:c.1291_1292insAG, XM_047432523.1:c.1279_1280insAG, XM_047432529.1:c.1267_1268insAG, XM_047432528.1:c.1267_1268insAG, XM_047432531.1:c.1261_1262insAG, XM_047432522.1:c.1285_1286insAG, XM_047432524.1:c.1267_1268insAG, XM_047432527.1:c.1279_1280insAG, XM_047432525.1:c.1261_1262insAG, XM_047432519.1:c.1303_1304insAG, XM_047432526.1:c.1291_1292insAG, XM_047432532.1:c.1087_1088insAG, NP_005578.2:p.Pro423fs, NP_001165365.1:p.Pro421fs, NP_001124398.1:p.Pro421fs, NP_001124399.1:p.Pro361fs, NP_001339544.1:p.Pro421fs, NP_001339546.1:p.Pro423fs, NP_001339543.1:p.Pro421fs, NP_001306135.1:p.Pro429fs, NP_001339547.1:p.Pro427fs, NP_001339545.1:p.Pro429fs, NP_001124400.1:p.Pro353fs, NP_001352130.1:p.Pro435fs, NP_001352132.1:p.Pro431fs, NP_001352137.1:p.Pro421fs, NP_001352131.1:p.Pro435fs, NP_001352133.1:p.Pro431fs, NP_001352134.1:p.Pro429fs, NP_001352135.1:p.Pro427fs, NP_001352136.1:p.Pro423fs, NP_001352138.1:p.Pro361fs, NP_001380490.1:p.Pro153fs, NP_001380487.1:p.Pro355fs, NP_001380488.1:p.Pro353fs, NP_001380489.1:p.Pro316fs, NP_001386992.1:p.Pro421fs, NP_001386993.1:p.Pro421fs, NP_001386986.1:p.Pro421fs, NP_001386966.1:p.Pro427fs, NP_001386969.1:p.Pro423fs, NP_001386967.1:p.Pro423fs, NP_001386961.1:p.Pro429fs, NP_001386978.1:p.Pro423fs, NP_001386979.1:p.Pro423fs, NP_001386987.1:p.Pro421fs, NP_001386957.1:p.Pro467fs, NP_001386990.1:p.Pro421fs, NP_001386964.1:p.Pro429fs, NP_001386965.1:p.Pro429fs, NP_001386960.1:p.Pro429fs, NP_001386994.1:p.Pro421fs, NP_001386968.1:p.Pro423fs, NP_001386984.1:p.Pro421fs, NP_001386988.1:p.Pro421fs, NP_001386962.1:p.Pro429fs, NP_001386982.1:p.Pro423fs, NP_001386995.1:p.Pro421fs, NP_001386985.1:p.Pro421fs, NP_001386958.1:p.Pro431fs, NP_001386991.1:p.Pro421fs, NP_001386963.1:p.Pro429fs, NP_001386981.1:p.Pro423fs, NP_001386983.1:p.Pro421fs, NP_001386959.1:p.Pro431fs, NP_001386980.1:p.Pro423fs, NP_001386989.1:p.Pro421fs, NP_001386996.1:p.Pro363fs, NP_001386997.1:p.Pro355fs, NP_001386998.1:p.Pro309fs, XP_011519884.1:p.Pro431fs, XP_011519874.1:p.Pro435fs, XP_011519881.1:p.Pro435fs, XP_011519879.1:p.Pro435fs, XP_011519875.1:p.Pro435fs, XP_011519887.1:p.Pro367fs, XP_047288486.1:p.Pro421fs, XP_047288476.1:p.Pro435fs, XP_047288477.1:p.Pro431fs, XP_047288479.1:p.Pro427fs, XP_047288485.1:p.Pro423fs, XP_047288484.1:p.Pro423fs, XP_047288487.1:p.Pro421fs, XP_047288478.1:p.Pro429fs, XP_047288480.1:p.Pro423fs, XP_047288483.1:p.Pro427fs, XP_047288481.1:p.Pro421fs, XP_047288475.1:p.Pro435fs, XP_047288482.1:p.Pro431fs, XP_047288488.1:p.Pro363fs

                              15.

                              rs1470974611 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:99712700 (GRCh38)
                                15:100252905 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:99712699:C:T
                                Gene:
                                MEF2A (Varview)
                                Functional Consequence:
                                stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.00005/1 (ALFA)
                                HGVS:
                                NC_000015.10:g.99712700C>T, NC_000015.9:g.100252905C>T, NG_016443.2:g.151773C>T, NM_005587.6:c.1429C>T, NM_005587.5:c.1429C>T, NM_005587.4:c.1429C>T, NM_005587.3:c.1429C>T, NM_005587.2:c.1429C>T, NM_001171894.5:c.1423C>T, NM_001171894.4:c.1423C>T, NM_001171894.3:c.1423C>T, NM_001171894.2:c.1423C>T, NM_001171894.1:c.1423C>T, NM_001130926.5:c.1423C>T, NM_001130926.4:c.1423C>T, NM_001130926.3:c.1423C>T, NM_001130926.2:c.1423C>T, NM_001130926.1:c.1423C>T, NM_001130927.5:c.1243C>T, NM_001130927.4:c.1243C>T, NM_001130927.3:c.1243C>T, NM_001130927.2:c.1243C>T, NM_001130927.1:c.1243C>T, NM_001352615.4:c.1423C>T, NM_001352615.3:c.1423C>T, NM_001352615.2:c.1423C>T, NM_001352615.1:c.1423C>T, NM_001352617.4:c.1429C>T, NM_001352617.3:c.1429C>T, NM_001352617.2:c.1429C>T, NM_001352617.1:c.1429C>T, NM_001352614.4:c.1423C>T, NM_001352614.3:c.1423C>T, NM_001352614.2:c.1423C>T, NM_001352614.1:c.1423C>T, NM_001319206.4:c.1447C>T, NM_001319206.3:c.1447C>T, NM_001319206.2:c.1447C>T, NM_001319206.1:c.1447C>T, NM_001352618.4:c.1441C>T, NM_001352618.3:c.1441C>T, NM_001352618.2:c.1441C>T, NM_001352618.1:c.1441C>T, NM_001352616.4:c.1447C>T, NM_001352616.3:c.1447C>T, NM_001352616.2:c.1447C>T, NM_001352616.1:c.1447C>T, NM_001130928.4:c.1219C>T, NM_001130928.3:c.1219C>T, NM_001130928.2:c.1219C>T, NM_001130928.1:c.1219C>T, NM_001365201.3:c.1465C>T, NM_001365201.2:c.1465C>T, NM_001365201.1:c.1465C>T, NM_001365203.3:c.1453C>T, NM_001365203.2:c.1453C>T, NM_001365203.1:c.1453C>T, NM_001365208.3:c.1423C>T, NM_001365208.2:c.1423C>T, NM_001365208.1:c.1423C>T, NM_001365202.3:c.1465C>T, NM_001365202.2:c.1465C>T, NM_001365202.1:c.1465C>T, NM_001365204.3:c.1453C>T, NM_001365204.2:c.1453C>T, NM_001365204.1:c.1453C>T, NM_001365205.3:c.1447C>T, NM_001365205.2:c.1447C>T, NM_001365205.1:c.1447C>T, NM_001365206.3:c.1441C>T, NM_001365206.2:c.1441C>T, NM_001365206.1:c.1441C>T, NM_001365207.3:c.1429C>T, NM_001365207.2:c.1429C>T, NM_001365207.1:c.1429C>T, NM_001365209.3:c.1243C>T, NM_001365209.2:c.1243C>T, NM_001365209.1:c.1243C>T, NM_001393561.3:c.619C>T, NM_001393561.2:c.619C>T, NM_001393561.1:c.619C>T, NM_001393558.2:c.1225C>T, NM_001393558.1:c.1225C>T, NM_001393559.2:c.1219C>T, NM_001393559.1:c.1219C>T, NM_001393560.2:c.1108C>T, NM_001393560.1:c.1108C>T, NM_001400063.1:c.1423C>T, NM_001400064.1:c.1423C>T, NM_001400057.1:c.1423C>T, NM_001400037.1:c.1441C>T, NM_001400040.1:c.1429C>T, NM_001400038.1:c.1429C>T, NM_001400032.1:c.1447C>T, NM_001400049.1:c.1429C>T, NM_001400050.1:c.1429C>T, NM_001400058.1:c.1423C>T, NM_001400028.1:c.1561C>T, NM_001400061.1:c.1423C>T, NM_001400035.1:c.1447C>T, NM_001400036.1:c.1447C>T, NM_001400031.1:c.1447C>T, NM_001400065.1:c.1423C>T, NM_001400039.1:c.1429C>T, NM_001400055.1:c.1423C>T, NM_001400059.1:c.1423C>T, NM_001400033.1:c.1447C>T, NM_001400053.1:c.1429C>T, NM_001400066.1:c.1423C>T, NM_001400056.1:c.1423C>T, NM_001400029.1:c.1453C>T, NM_001400062.1:c.1423C>T, NM_001400034.1:c.1447C>T, NM_001400052.1:c.1429C>T, NM_001400054.1:c.1423C>T, NM_001400030.1:c.1453C>T, NM_001400051.1:c.1429C>T, NM_001400060.1:c.1423C>T, NM_001400067.1:c.1249C>T, NM_001400068.1:c.1225C>T, NM_001400069.1:c.1087C>T, XM_011521582.3:c.1453C>T, XM_011521582.2:c.1453C>T, XM_011521582.1:c.1453C>T, XM_011521572.3:c.1465C>T, XM_011521572.2:c.1465C>T, XM_011521572.1:c.1465C>T, XM_011521579.3:c.1465C>T, XM_011521579.2:c.1465C>T, XM_011521579.1:c.1465C>T, XM_011521577.3:c.1465C>T, XM_011521577.2:c.1465C>T, XM_011521577.1:c.1465C>T, XM_011521573.3:c.1465C>T, XM_011521573.2:c.1465C>T, XM_011521573.1:c.1465C>T, XM_011521585.3:c.1261C>T, XM_011521585.2:c.1261C>T, XM_011521585.1:c.1261C>T, XM_047432530.1:c.1423C>T, XM_047432520.1:c.1465C>T, XM_047432521.1:c.1453C>T, XM_047432523.1:c.1441C>T, XM_047432529.1:c.1429C>T, XM_047432528.1:c.1429C>T, XM_047432531.1:c.1423C>T, XM_047432522.1:c.1447C>T, XM_047432524.1:c.1429C>T, XM_047432527.1:c.1441C>T, XM_047432525.1:c.1423C>T, XM_047432519.1:c.1465C>T, XM_047432526.1:c.1453C>T, XM_047432532.1:c.1249C>T, NP_005578.2:p.Arg477Ter, NP_001165365.1:p.Arg475Ter, NP_001124398.1:p.Arg475Ter, NP_001124399.1:p.Arg415Ter, NP_001339544.1:p.Arg475Ter, NP_001339546.1:p.Arg477Ter, NP_001339543.1:p.Arg475Ter, NP_001306135.1:p.Arg483Ter, NP_001339547.1:p.Arg481Ter, NP_001339545.1:p.Arg483Ter, NP_001124400.1:p.Arg407Ter, NP_001352130.1:p.Arg489Ter, NP_001352132.1:p.Arg485Ter, NP_001352137.1:p.Arg475Ter, NP_001352131.1:p.Arg489Ter, NP_001352133.1:p.Arg485Ter, NP_001352134.1:p.Arg483Ter, NP_001352135.1:p.Arg481Ter, NP_001352136.1:p.Arg477Ter, NP_001352138.1:p.Arg415Ter, NP_001380490.1:p.Arg207Ter, NP_001380487.1:p.Arg409Ter, NP_001380488.1:p.Arg407Ter, NP_001380489.1:p.Arg370Ter, NP_001386992.1:p.Arg475Ter, NP_001386993.1:p.Arg475Ter, NP_001386986.1:p.Arg475Ter, NP_001386966.1:p.Arg481Ter, NP_001386969.1:p.Arg477Ter, NP_001386967.1:p.Arg477Ter, NP_001386961.1:p.Arg483Ter, NP_001386978.1:p.Arg477Ter, NP_001386979.1:p.Arg477Ter, NP_001386987.1:p.Arg475Ter, NP_001386957.1:p.Arg521Ter, NP_001386990.1:p.Arg475Ter, NP_001386964.1:p.Arg483Ter, NP_001386965.1:p.Arg483Ter, NP_001386960.1:p.Arg483Ter, NP_001386994.1:p.Arg475Ter, NP_001386968.1:p.Arg477Ter, NP_001386984.1:p.Arg475Ter, NP_001386988.1:p.Arg475Ter, NP_001386962.1:p.Arg483Ter, NP_001386982.1:p.Arg477Ter, NP_001386995.1:p.Arg475Ter, NP_001386985.1:p.Arg475Ter, NP_001386958.1:p.Arg485Ter, NP_001386991.1:p.Arg475Ter, NP_001386963.1:p.Arg483Ter, NP_001386981.1:p.Arg477Ter, NP_001386983.1:p.Arg475Ter, NP_001386959.1:p.Arg485Ter, NP_001386980.1:p.Arg477Ter, NP_001386989.1:p.Arg475Ter, NP_001386996.1:p.Arg417Ter, NP_001386997.1:p.Arg409Ter, NP_001386998.1:p.Arg363Ter, XP_011519884.1:p.Arg485Ter, XP_011519874.1:p.Arg489Ter, XP_011519881.1:p.Arg489Ter, XP_011519879.1:p.Arg489Ter, XP_011519875.1:p.Arg489Ter, XP_011519887.1:p.Arg421Ter, XP_047288486.1:p.Arg475Ter, XP_047288476.1:p.Arg489Ter, XP_047288477.1:p.Arg485Ter, XP_047288479.1:p.Arg481Ter, XP_047288485.1:p.Arg477Ter, XP_047288484.1:p.Arg477Ter, XP_047288487.1:p.Arg475Ter, XP_047288478.1:p.Arg483Ter, XP_047288480.1:p.Arg477Ter, XP_047288483.1:p.Arg481Ter, XP_047288481.1:p.Arg475Ter, XP_047288475.1:p.Arg489Ter, XP_047288482.1:p.Arg485Ter, XP_047288488.1:p.Arg417Ter

                                16.

                                rs1470745947 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  15:99674415 (GRCh38)
                                  15:100214620 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:99674414:T:C
                                  Gene:
                                  MEF2A (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000015.10:g.99674415T>C, NC_000015.9:g.100214620T>C, NG_016443.2:g.113488T>C, NM_005587.6:c.419T>C, NM_005587.5:c.419T>C, NM_005587.4:c.419T>C, NM_005587.3:c.419T>C, NM_005587.2:c.419T>C, NM_001171894.5:c.413T>C, NM_001171894.4:c.413T>C, NM_001171894.3:c.413T>C, NM_001171894.2:c.413T>C, NM_001171894.1:c.413T>C, NM_001130926.5:c.413T>C, NM_001130926.4:c.413T>C, NM_001130926.3:c.413T>C, NM_001130926.2:c.413T>C, NM_001130926.1:c.413T>C, NM_001130927.5:c.209T>C, NM_001130927.4:c.209T>C, NM_001130927.3:c.209T>C, NM_001130927.2:c.209T>C, NM_001130927.1:c.209T>C, NM_001352615.4:c.413T>C, NM_001352615.3:c.413T>C, NM_001352615.2:c.413T>C, NM_001352615.1:c.413T>C, NM_001352617.4:c.419T>C, NM_001352617.3:c.419T>C, NM_001352617.2:c.419T>C, NM_001352617.1:c.419T>C, NM_001352614.4:c.413T>C, NM_001352614.3:c.413T>C, NM_001352614.2:c.413T>C, NM_001352614.1:c.413T>C, NM_001319206.4:c.413T>C, NM_001319206.3:c.413T>C, NM_001319206.2:c.413T>C, NM_001319206.1:c.413T>C, NM_001352618.4:c.431T>C, NM_001352618.3:c.431T>C, NM_001352618.2:c.431T>C, NM_001352618.1:c.431T>C, NM_001352616.4:c.413T>C, NM_001352616.3:c.413T>C, NM_001352616.2:c.413T>C, NM_001352616.1:c.413T>C, NM_001130928.4:c.209T>C, NM_001130928.3:c.209T>C, NM_001130928.2:c.209T>C, NM_001130928.1:c.209T>C, NM_001365201.3:c.431T>C, NM_001365201.2:c.431T>C, NM_001365201.1:c.431T>C, NM_001365203.3:c.419T>C, NM_001365203.2:c.419T>C, NM_001365203.1:c.419T>C, NM_001365208.3:c.413T>C, NM_001365208.2:c.413T>C, NM_001365208.1:c.413T>C, NM_001365202.3:c.431T>C, NM_001365202.2:c.431T>C, NM_001365202.1:c.431T>C, NM_001365204.3:c.419T>C, NM_001365204.2:c.419T>C, NM_001365204.1:c.419T>C, NM_001365205.3:c.413T>C, NM_001365205.2:c.413T>C, NM_001365205.1:c.413T>C, NM_001365206.3:c.431T>C, NM_001365206.2:c.431T>C, NM_001365206.1:c.431T>C, NM_001365207.3:c.419T>C, NM_001365207.2:c.419T>C, NM_001365207.1:c.419T>C, NM_001365209.3:c.209T>C, NM_001365209.2:c.209T>C, NM_001365209.1:c.209T>C, NM_001393558.2:c.215T>C, NM_001393558.1:c.215T>C, NM_001393559.2:c.209T>C, NM_001393559.1:c.209T>C, NM_001393560.2:c.413T>C, NM_001393560.1:c.413T>C, NM_001365210.2:c.419T>C, NM_001365210.1:c.419T>C, NM_001365211.2:c.413T>C, NM_001365211.1:c.413T>C, NM_001400063.1:c.413T>C, NM_001400064.1:c.413T>C, NM_001400057.1:c.413T>C, NM_001400037.1:c.431T>C, NM_001400040.1:c.419T>C, NM_001400038.1:c.419T>C, NM_001400032.1:c.413T>C, NM_001400049.1:c.419T>C, NM_001400050.1:c.419T>C, NM_001400058.1:c.413T>C, NM_001400028.1:c.551T>C, NM_001400061.1:c.413T>C, NM_001400035.1:c.413T>C, NM_001400036.1:c.413T>C, NM_001400031.1:c.413T>C, NM_001400065.1:c.413T>C, NM_001400039.1:c.419T>C, NM_001400055.1:c.413T>C, NM_001400059.1:c.413T>C, NM_001400033.1:c.413T>C, NM_001400053.1:c.419T>C, NM_001400066.1:c.413T>C, NM_001400056.1:c.413T>C, NM_001400029.1:c.419T>C, NM_001400062.1:c.413T>C, NM_001400034.1:c.413T>C, NM_001400052.1:c.419T>C, NM_001400054.1:c.413T>C, NM_001400030.1:c.419T>C, NM_001400051.1:c.419T>C, NM_001400060.1:c.413T>C, NM_001400067.1:c.215T>C, NM_001400068.1:c.215T>C, NM_001400069.1:c.77T>C, NM_001400071.1:c.413T>C, NM_001400070.1:c.413T>C, XM_011521582.3:c.419T>C, XM_011521582.2:c.419T>C, XM_011521582.1:c.419T>C, XM_011521572.3:c.431T>C, XM_011521572.2:c.431T>C, XM_011521572.1:c.431T>C, XM_011521579.3:c.431T>C, XM_011521579.2:c.431T>C, XM_011521579.1:c.431T>C, XM_011521577.3:c.431T>C, XM_011521577.2:c.431T>C, XM_011521577.1:c.431T>C, XM_011521573.3:c.431T>C, XM_011521573.2:c.431T>C, XM_011521573.1:c.431T>C, XM_011521585.3:c.227T>C, XM_011521585.2:c.227T>C, XM_011521585.1:c.227T>C, XM_047432530.1:c.413T>C, XM_047432520.1:c.431T>C, XM_047432521.1:c.419T>C, XM_047432523.1:c.431T>C, XM_047432529.1:c.419T>C, XM_047432528.1:c.419T>C, XM_047432531.1:c.413T>C, XM_047432522.1:c.413T>C, XM_047432524.1:c.419T>C, XM_047432527.1:c.431T>C, XM_047432525.1:c.413T>C, XM_047432519.1:c.431T>C, XM_047432526.1:c.419T>C, XM_047432532.1:c.215T>C, NP_005578.2:p.Phe140Ser, NP_001165365.1:p.Phe138Ser, NP_001124398.1:p.Phe138Ser, NP_001124399.1:p.Phe70Ser, NP_001339544.1:p.Phe138Ser, NP_001339546.1:p.Phe140Ser, NP_001339543.1:p.Phe138Ser, NP_001306135.1:p.Phe138Ser, NP_001339547.1:p.Phe144Ser, NP_001339545.1:p.Phe138Ser, NP_001124400.1:p.Phe70Ser, NP_001352130.1:p.Phe144Ser, NP_001352132.1:p.Phe140Ser, NP_001352137.1:p.Phe138Ser, NP_001352131.1:p.Phe144Ser, NP_001352133.1:p.Phe140Ser, NP_001352134.1:p.Phe138Ser, NP_001352135.1:p.Phe144Ser, NP_001352136.1:p.Phe140Ser, NP_001352138.1:p.Phe70Ser, NP_001380487.1:p.Phe72Ser, NP_001380488.1:p.Phe70Ser, NP_001380489.1:p.Phe138Ser, NP_001352139.1:p.Phe140Ser, NP_001352140.1:p.Phe138Ser, NP_001386992.1:p.Phe138Ser, NP_001386993.1:p.Phe138Ser, NP_001386986.1:p.Phe138Ser, NP_001386966.1:p.Phe144Ser, NP_001386969.1:p.Phe140Ser, NP_001386967.1:p.Phe140Ser, NP_001386961.1:p.Phe138Ser, NP_001386978.1:p.Phe140Ser, NP_001386979.1:p.Phe140Ser, NP_001386987.1:p.Phe138Ser, NP_001386957.1:p.Phe184Ser, NP_001386990.1:p.Phe138Ser, NP_001386964.1:p.Phe138Ser, NP_001386965.1:p.Phe138Ser, NP_001386960.1:p.Phe138Ser, NP_001386994.1:p.Phe138Ser, NP_001386968.1:p.Phe140Ser, NP_001386984.1:p.Phe138Ser, NP_001386988.1:p.Phe138Ser, NP_001386962.1:p.Phe138Ser, NP_001386982.1:p.Phe140Ser, NP_001386995.1:p.Phe138Ser, NP_001386985.1:p.Phe138Ser, NP_001386958.1:p.Phe140Ser, NP_001386991.1:p.Phe138Ser, NP_001386963.1:p.Phe138Ser, NP_001386981.1:p.Phe140Ser, NP_001386983.1:p.Phe138Ser, NP_001386959.1:p.Phe140Ser, NP_001386980.1:p.Phe140Ser, NP_001386989.1:p.Phe138Ser, NP_001386996.1:p.Phe72Ser, NP_001386997.1:p.Phe72Ser, NP_001386998.1:p.Phe26Ser, NP_001387000.1:p.Phe138Ser, NP_001386999.1:p.Phe138Ser, XP_011519884.1:p.Phe140Ser, XP_011519874.1:p.Phe144Ser, XP_011519881.1:p.Phe144Ser, XP_011519879.1:p.Phe144Ser, XP_011519875.1:p.Phe144Ser, XP_011519887.1:p.Phe76Ser, XP_047288486.1:p.Phe138Ser, XP_047288476.1:p.Phe144Ser, XP_047288477.1:p.Phe140Ser, XP_047288479.1:p.Phe144Ser, XP_047288485.1:p.Phe140Ser, XP_047288484.1:p.Phe140Ser, XP_047288487.1:p.Phe138Ser, XP_047288478.1:p.Phe138Ser, XP_047288480.1:p.Phe140Ser, XP_047288483.1:p.Phe144Ser, XP_047288481.1:p.Phe138Ser, XP_047288475.1:p.Phe144Ser, XP_047288482.1:p.Phe140Ser, XP_047288488.1:p.Phe72Ser

                                  17.

                                  rs1470079428 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    15:99706748 (GRCh38)
                                    15:100246953 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:99706747:G:T
                                    Gene:
                                    MEF2A (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    HGVS:
                                    NC_000015.10:g.99706748G>T, NC_000015.9:g.100246953G>T, NG_016443.2:g.145821G>T, NM_005587.6:c.884G>T, NM_005587.5:c.884G>T, NM_005587.4:c.884G>T, NM_005587.3:c.884G>T, NM_005587.2:c.884G>T, NM_001171894.5:c.878G>T, NM_001171894.4:c.878G>T, NM_001171894.3:c.878G>T, NM_001171894.2:c.878G>T, NM_001171894.1:c.878G>T, NM_001130926.5:c.878G>T, NM_001130926.4:c.878G>T, NM_001130926.3:c.878G>T, NM_001130926.2:c.878G>T, NM_001130926.1:c.878G>T, NM_001130927.5:c.698G>T, NM_001130927.4:c.698G>T, NM_001130927.3:c.698G>T, NM_001130927.2:c.698G>T, NM_001130927.1:c.698G>T, NM_001352615.4:c.878G>T, NM_001352615.3:c.878G>T, NM_001352615.2:c.878G>T, NM_001352615.1:c.878G>T, NM_001352617.4:c.884G>T, NM_001352617.3:c.884G>T, NM_001352617.2:c.884G>T, NM_001352617.1:c.884G>T, NM_001352614.4:c.878G>T, NM_001352614.3:c.878G>T, NM_001352614.2:c.878G>T, NM_001352614.1:c.878G>T, NM_001319206.4:c.902G>T, NM_001319206.3:c.902G>T, NM_001319206.2:c.902G>T, NM_001319206.1:c.902G>T, NM_001352618.4:c.896G>T, NM_001352618.3:c.896G>T, NM_001352618.2:c.896G>T, NM_001352618.1:c.896G>T, NM_001352616.4:c.902G>T, NM_001352616.3:c.902G>T, NM_001352616.2:c.902G>T, NM_001352616.1:c.902G>T, NM_001130928.4:c.674G>T, NM_001130928.3:c.674G>T, NM_001130928.2:c.674G>T, NM_001130928.1:c.674G>T, NM_001365201.3:c.920G>T, NM_001365201.2:c.920G>T, NM_001365201.1:c.920G>T, NM_001365203.3:c.908G>T, NM_001365203.2:c.908G>T, NM_001365203.1:c.908G>T, NM_001365208.3:c.878G>T, NM_001365208.2:c.878G>T, NM_001365208.1:c.878G>T, NM_001365202.3:c.920G>T, NM_001365202.2:c.920G>T, NM_001365202.1:c.920G>T, NM_001365204.3:c.908G>T, NM_001365204.2:c.908G>T, NM_001365204.1:c.908G>T, NM_001365205.3:c.902G>T, NM_001365205.2:c.902G>T, NM_001365205.1:c.902G>T, NM_001365206.3:c.896G>T, NM_001365206.2:c.896G>T, NM_001365206.1:c.896G>T, NM_001365207.3:c.884G>T, NM_001365207.2:c.884G>T, NM_001365207.1:c.884G>T, NM_001365209.3:c.698G>T, NM_001365209.2:c.698G>T, NM_001365209.1:c.698G>T, NM_001393561.3:c.74G>T, NM_001393561.2:c.74G>T, NM_001393561.1:c.74G>T, NM_001393558.2:c.680G>T, NM_001393558.1:c.680G>T, NM_001393559.2:c.674G>T, NM_001393559.1:c.674G>T, NM_001400063.1:c.878G>T, NM_001400064.1:c.878G>T, NM_001400057.1:c.878G>T, NM_001400037.1:c.896G>T, NM_001400040.1:c.884G>T, NM_001400038.1:c.884G>T, NM_001400032.1:c.902G>T, NM_001400049.1:c.884G>T, NM_001400050.1:c.884G>T, NM_001400058.1:c.878G>T, NM_001400028.1:c.1016G>T, NM_001400061.1:c.878G>T, NM_001400035.1:c.902G>T, NM_001400036.1:c.902G>T, NM_001400031.1:c.902G>T, NM_001400065.1:c.878G>T, NM_001400039.1:c.884G>T, NM_001400055.1:c.878G>T, NM_001400059.1:c.878G>T, NM_001400033.1:c.902G>T, NM_001400053.1:c.884G>T, NM_001400066.1:c.878G>T, NM_001400056.1:c.878G>T, NM_001400029.1:c.908G>T, NM_001400062.1:c.878G>T, NM_001400034.1:c.902G>T, NM_001400052.1:c.884G>T, NM_001400054.1:c.878G>T, NM_001400030.1:c.908G>T, NM_001400051.1:c.884G>T, NM_001400060.1:c.878G>T, NM_001400067.1:c.704G>T, NM_001400068.1:c.680G>T, NM_001400069.1:c.542G>T, XM_011521582.3:c.908G>T, XM_011521582.2:c.908G>T, XM_011521582.1:c.908G>T, XM_011521572.3:c.920G>T, XM_011521572.2:c.920G>T, XM_011521572.1:c.920G>T, XM_011521579.3:c.920G>T, XM_011521579.2:c.920G>T, XM_011521579.1:c.920G>T, XM_011521577.3:c.920G>T, XM_011521577.2:c.920G>T, XM_011521577.1:c.920G>T, XM_011521573.3:c.920G>T, XM_011521573.2:c.920G>T, XM_011521573.1:c.920G>T, XM_011521585.3:c.716G>T, XM_011521585.2:c.716G>T, XM_011521585.1:c.716G>T, XM_047432530.1:c.878G>T, XM_047432520.1:c.920G>T, XM_047432521.1:c.908G>T, XM_047432523.1:c.896G>T, XM_047432529.1:c.884G>T, XM_047432528.1:c.884G>T, XM_047432531.1:c.878G>T, XM_047432522.1:c.902G>T, XM_047432524.1:c.884G>T, XM_047432527.1:c.896G>T, XM_047432525.1:c.878G>T, XM_047432519.1:c.920G>T, XM_047432526.1:c.908G>T, XM_047432532.1:c.704G>T, NP_005578.2:p.Ser295Ile, NP_001165365.1:p.Ser293Ile, NP_001124398.1:p.Ser293Ile, NP_001124399.1:p.Ser233Ile, NP_001339544.1:p.Ser293Ile, NP_001339546.1:p.Ser295Ile, NP_001339543.1:p.Ser293Ile, NP_001306135.1:p.Ser301Ile, NP_001339547.1:p.Ser299Ile, NP_001339545.1:p.Ser301Ile, NP_001124400.1:p.Ser225Ile, NP_001352130.1:p.Ser307Ile, NP_001352132.1:p.Ser303Ile, NP_001352137.1:p.Ser293Ile, NP_001352131.1:p.Ser307Ile, NP_001352133.1:p.Ser303Ile, NP_001352134.1:p.Ser301Ile, NP_001352135.1:p.Ser299Ile, NP_001352136.1:p.Ser295Ile, NP_001352138.1:p.Ser233Ile, NP_001380490.1:p.Ser25Ile, NP_001380487.1:p.Ser227Ile, NP_001380488.1:p.Ser225Ile, NP_001386992.1:p.Ser293Ile, NP_001386993.1:p.Ser293Ile, NP_001386986.1:p.Ser293Ile, NP_001386966.1:p.Ser299Ile, NP_001386969.1:p.Ser295Ile, NP_001386967.1:p.Ser295Ile, NP_001386961.1:p.Ser301Ile, NP_001386978.1:p.Ser295Ile, NP_001386979.1:p.Ser295Ile, NP_001386987.1:p.Ser293Ile, NP_001386957.1:p.Ser339Ile, NP_001386990.1:p.Ser293Ile, NP_001386964.1:p.Ser301Ile, NP_001386965.1:p.Ser301Ile, NP_001386960.1:p.Ser301Ile, NP_001386994.1:p.Ser293Ile, NP_001386968.1:p.Ser295Ile, NP_001386984.1:p.Ser293Ile, NP_001386988.1:p.Ser293Ile, NP_001386962.1:p.Ser301Ile, NP_001386982.1:p.Ser295Ile, NP_001386995.1:p.Ser293Ile, NP_001386985.1:p.Ser293Ile, NP_001386958.1:p.Ser303Ile, NP_001386991.1:p.Ser293Ile, NP_001386963.1:p.Ser301Ile, NP_001386981.1:p.Ser295Ile, NP_001386983.1:p.Ser293Ile, NP_001386959.1:p.Ser303Ile, NP_001386980.1:p.Ser295Ile, NP_001386989.1:p.Ser293Ile, NP_001386996.1:p.Ser235Ile, NP_001386997.1:p.Ser227Ile, NP_001386998.1:p.Ser181Ile, XP_011519884.1:p.Ser303Ile, XP_011519874.1:p.Ser307Ile, XP_011519881.1:p.Ser307Ile, XP_011519879.1:p.Ser307Ile, XP_011519875.1:p.Ser307Ile, XP_011519887.1:p.Ser239Ile, XP_047288486.1:p.Ser293Ile, XP_047288476.1:p.Ser307Ile, XP_047288477.1:p.Ser303Ile, XP_047288479.1:p.Ser299Ile, XP_047288485.1:p.Ser295Ile, XP_047288484.1:p.Ser295Ile, XP_047288487.1:p.Ser293Ile, XP_047288478.1:p.Ser301Ile, XP_047288480.1:p.Ser295Ile, XP_047288483.1:p.Ser299Ile, XP_047288481.1:p.Ser293Ile, XP_047288475.1:p.Ser307Ile, XP_047288482.1:p.Ser303Ile, XP_047288488.1:p.Ser235Ile

                                    18.

                                    rs1467527861 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:99690396 (GRCh38)
                                      15:100230601 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:99690395:C:T
                                      Gene:
                                      MEF2A (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000015.10:g.99690396C>T, NC_000015.9:g.100230601C>T, NG_016443.2:g.129469C>T, NM_005587.6:c.832C>T, NM_005587.5:c.832C>T, NM_005587.4:c.832C>T, NM_005587.3:c.832C>T, NM_005587.2:c.832C>T, NM_001171894.5:c.826C>T, NM_001171894.4:c.826C>T, NM_001171894.3:c.826C>T, NM_001171894.2:c.826C>T, NM_001171894.1:c.826C>T, NM_001130926.5:c.826C>T, NM_001130926.4:c.826C>T, NM_001130926.3:c.826C>T, NM_001130926.2:c.826C>T, NM_001130926.1:c.826C>T, NM_001130927.5:c.622C>T, NM_001130927.4:c.622C>T, NM_001130927.3:c.622C>T, NM_001130927.2:c.622C>T, NM_001130927.1:c.622C>T, NM_001352615.4:c.826C>T, NM_001352615.3:c.826C>T, NM_001352615.2:c.826C>T, NM_001352615.1:c.826C>T, NM_001352617.4:c.832C>T, NM_001352617.3:c.832C>T, NM_001352617.2:c.832C>T, NM_001352617.1:c.832C>T, NM_001352614.4:c.826C>T, NM_001352614.3:c.826C>T, NM_001352614.2:c.826C>T, NM_001352614.1:c.826C>T, NM_001319206.4:c.826C>T, NM_001319206.3:c.826C>T, NM_001319206.2:c.826C>T, NM_001319206.1:c.826C>T, NM_001352618.4:c.844C>T, NM_001352618.3:c.844C>T, NM_001352618.2:c.844C>T, NM_001352618.1:c.844C>T, NM_001352616.4:c.826C>T, NM_001352616.3:c.826C>T, NM_001352616.2:c.826C>T, NM_001352616.1:c.826C>T, NM_001130928.4:c.622C>T, NM_001130928.3:c.622C>T, NM_001130928.2:c.622C>T, NM_001130928.1:c.622C>T, NM_001365201.3:c.844C>T, NM_001365201.2:c.844C>T, NM_001365201.1:c.844C>T, NM_001365203.3:c.832C>T, NM_001365203.2:c.832C>T, NM_001365203.1:c.832C>T, NM_001365208.3:c.826C>T, NM_001365208.2:c.826C>T, NM_001365208.1:c.826C>T, NM_001365202.3:c.844C>T, NM_001365202.2:c.844C>T, NM_001365202.1:c.844C>T, NM_001365204.3:c.832C>T, NM_001365204.2:c.832C>T, NM_001365204.1:c.832C>T, NM_001365205.3:c.826C>T, NM_001365205.2:c.826C>T, NM_001365205.1:c.826C>T, NM_001365206.3:c.844C>T, NM_001365206.2:c.844C>T, NM_001365206.1:c.844C>T, NM_001365207.3:c.832C>T, NM_001365207.2:c.832C>T, NM_001365207.1:c.832C>T, NM_001365209.3:c.622C>T, NM_001365209.2:c.622C>T, NM_001365209.1:c.622C>T, NM_001393558.2:c.628C>T, NM_001393558.1:c.628C>T, NM_001393559.2:c.622C>T, NM_001393559.1:c.622C>T, NM_001400063.1:c.826C>T, NM_001400064.1:c.826C>T, NM_001400057.1:c.826C>T, NM_001400037.1:c.844C>T, NM_001400040.1:c.832C>T, NM_001400038.1:c.832C>T, NM_001400032.1:c.826C>T, NM_001400049.1:c.832C>T, NM_001400050.1:c.832C>T, NM_001400058.1:c.826C>T, NM_001400028.1:c.964C>T, NM_001400061.1:c.826C>T, NM_001400035.1:c.826C>T, NM_001400036.1:c.826C>T, NM_001400031.1:c.826C>T, NM_001400065.1:c.826C>T, NM_001400039.1:c.832C>T, NM_001400055.1:c.826C>T, NM_001400059.1:c.826C>T, NM_001400033.1:c.826C>T, NM_001400053.1:c.832C>T, NM_001400066.1:c.826C>T, NM_001400056.1:c.826C>T, NM_001400029.1:c.832C>T, NM_001400062.1:c.826C>T, NM_001400034.1:c.826C>T, NM_001400052.1:c.832C>T, NM_001400054.1:c.826C>T, NM_001400030.1:c.832C>T, NM_001400051.1:c.832C>T, NM_001400060.1:c.826C>T, NM_001400067.1:c.628C>T, NM_001400068.1:c.628C>T, NM_001400069.1:c.490C>T, XM_011521582.3:c.832C>T, XM_011521582.2:c.832C>T, XM_011521582.1:c.832C>T, XM_011521572.3:c.844C>T, XM_011521572.2:c.844C>T, XM_011521572.1:c.844C>T, XM_011521579.3:c.844C>T, XM_011521579.2:c.844C>T, XM_011521579.1:c.844C>T, XM_011521577.3:c.844C>T, XM_011521577.2:c.844C>T, XM_011521577.1:c.844C>T, XM_011521573.3:c.844C>T, XM_011521573.2:c.844C>T, XM_011521573.1:c.844C>T, XM_011521585.3:c.640C>T, XM_011521585.2:c.640C>T, XM_011521585.1:c.640C>T, XM_047432530.1:c.826C>T, XM_047432520.1:c.844C>T, XM_047432521.1:c.832C>T, XM_047432523.1:c.844C>T, XM_047432529.1:c.832C>T, XM_047432528.1:c.832C>T, XM_047432531.1:c.826C>T, XM_047432522.1:c.826C>T, XM_047432524.1:c.832C>T, XM_047432527.1:c.844C>T, XM_047432525.1:c.826C>T, XM_047432519.1:c.844C>T, XM_047432526.1:c.832C>T, XM_047432532.1:c.628C>T, NP_005578.2:p.Pro278Ser, NP_001165365.1:p.Pro276Ser, NP_001124398.1:p.Pro276Ser, NP_001124399.1:p.Pro208Ser, NP_001339544.1:p.Pro276Ser, NP_001339546.1:p.Pro278Ser, NP_001339543.1:p.Pro276Ser, NP_001306135.1:p.Pro276Ser, NP_001339547.1:p.Pro282Ser, NP_001339545.1:p.Pro276Ser, NP_001124400.1:p.Pro208Ser, NP_001352130.1:p.Pro282Ser, NP_001352132.1:p.Pro278Ser, NP_001352137.1:p.Pro276Ser, NP_001352131.1:p.Pro282Ser, NP_001352133.1:p.Pro278Ser, NP_001352134.1:p.Pro276Ser, NP_001352135.1:p.Pro282Ser, NP_001352136.1:p.Pro278Ser, NP_001352138.1:p.Pro208Ser, NP_001380487.1:p.Pro210Ser, NP_001380488.1:p.Pro208Ser, NP_001386992.1:p.Pro276Ser, NP_001386993.1:p.Pro276Ser, NP_001386986.1:p.Pro276Ser, NP_001386966.1:p.Pro282Ser, NP_001386969.1:p.Pro278Ser, NP_001386967.1:p.Pro278Ser, NP_001386961.1:p.Pro276Ser, NP_001386978.1:p.Pro278Ser, NP_001386979.1:p.Pro278Ser, NP_001386987.1:p.Pro276Ser, NP_001386957.1:p.Pro322Ser, NP_001386990.1:p.Pro276Ser, NP_001386964.1:p.Pro276Ser, NP_001386965.1:p.Pro276Ser, NP_001386960.1:p.Pro276Ser, NP_001386994.1:p.Pro276Ser, NP_001386968.1:p.Pro278Ser, NP_001386984.1:p.Pro276Ser, NP_001386988.1:p.Pro276Ser, NP_001386962.1:p.Pro276Ser, NP_001386982.1:p.Pro278Ser, NP_001386995.1:p.Pro276Ser, NP_001386985.1:p.Pro276Ser, NP_001386958.1:p.Pro278Ser, NP_001386991.1:p.Pro276Ser, NP_001386963.1:p.Pro276Ser, NP_001386981.1:p.Pro278Ser, NP_001386983.1:p.Pro276Ser, NP_001386959.1:p.Pro278Ser, NP_001386980.1:p.Pro278Ser, NP_001386989.1:p.Pro276Ser, NP_001386996.1:p.Pro210Ser, NP_001386997.1:p.Pro210Ser, NP_001386998.1:p.Pro164Ser, XP_011519884.1:p.Pro278Ser, XP_011519874.1:p.Pro282Ser, XP_011519881.1:p.Pro282Ser, XP_011519879.1:p.Pro282Ser, XP_011519875.1:p.Pro282Ser, XP_011519887.1:p.Pro214Ser, XP_047288486.1:p.Pro276Ser, XP_047288476.1:p.Pro282Ser, XP_047288477.1:p.Pro278Ser, XP_047288479.1:p.Pro282Ser, XP_047288485.1:p.Pro278Ser, XP_047288484.1:p.Pro278Ser, XP_047288487.1:p.Pro276Ser, XP_047288478.1:p.Pro276Ser, XP_047288480.1:p.Pro278Ser, XP_047288483.1:p.Pro282Ser, XP_047288481.1:p.Pro276Ser, XP_047288475.1:p.Pro282Ser, XP_047288482.1:p.Pro278Ser, XP_047288488.1:p.Pro210Ser

                                      19.

                                      rs1460998707 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CCCCA>- [Show Flanks]
                                        Chromosome:
                                        15:99674490 (GRCh38)
                                        15:100214695 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:99674489:CCCCA:
                                        Gene:
                                        MEF2A (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        -=0.00026/3 (GoESP)
                                        HGVS:
                                        NC_000015.10:g.99674490_99674494del, NC_000015.9:g.100214695_100214699del, NG_016443.2:g.113563_113567del, NM_005587.6:c.494_498del, NM_005587.5:c.494_498del, NM_005587.4:c.494_498del, NM_005587.3:c.494_498del, NM_005587.2:c.494_498del, NM_001171894.5:c.488_492del, NM_001171894.4:c.488_492del, NM_001171894.3:c.488_492del, NM_001171894.2:c.488_492del, NM_001171894.1:c.488_492del, NM_001130926.5:c.488_492del, NM_001130926.4:c.488_492del, NM_001130926.3:c.488_492del, NM_001130926.2:c.488_492del, NM_001130926.1:c.488_492del, NM_001130927.5:c.284_288del, NM_001130927.4:c.284_288del, NM_001130927.3:c.284_288del, NM_001130927.2:c.284_288del, NM_001130927.1:c.284_288del, NM_001352615.4:c.488_492del, NM_001352615.3:c.488_492del, NM_001352615.2:c.488_492del, NM_001352615.1:c.488_492del, NM_001352617.4:c.494_498del, NM_001352617.3:c.494_498del, NM_001352617.2:c.494_498del, NM_001352617.1:c.494_498del, NM_001352614.4:c.488_492del, NM_001352614.3:c.488_492del, NM_001352614.2:c.488_492del, NM_001352614.1:c.488_492del, NM_001319206.4:c.488_492del, NM_001319206.3:c.488_492del, NM_001319206.2:c.488_492del, NM_001319206.1:c.488_492del, NM_001352618.4:c.506_510del, NM_001352618.3:c.506_510del, NM_001352618.2:c.506_510del, NM_001352618.1:c.506_510del, NM_001352616.4:c.488_492del, NM_001352616.3:c.488_492del, NM_001352616.2:c.488_492del, NM_001352616.1:c.488_492del, NM_001130928.4:c.284_288del, NM_001130928.3:c.284_288del, NM_001130928.2:c.284_288del, NM_001130928.1:c.284_288del, NM_001365201.3:c.506_510del, NM_001365201.2:c.506_510del, NM_001365201.1:c.506_510del, NM_001365203.3:c.494_498del, NM_001365203.2:c.494_498del, NM_001365203.1:c.494_498del, NM_001365208.3:c.488_492del, NM_001365208.2:c.488_492del, NM_001365208.1:c.488_492del, NM_001365202.3:c.506_510del, NM_001365202.2:c.506_510del, NM_001365202.1:c.506_510del, NM_001365204.3:c.494_498del, NM_001365204.2:c.494_498del, NM_001365204.1:c.494_498del, NM_001365205.3:c.488_492del, NM_001365205.2:c.488_492del, NM_001365205.1:c.488_492del, NM_001365206.3:c.506_510del, NM_001365206.2:c.506_510del, NM_001365206.1:c.506_510del, NM_001365207.3:c.494_498del, NM_001365207.2:c.494_498del, NM_001365207.1:c.494_498del, NM_001365209.3:c.284_288del, NM_001365209.2:c.284_288del, NM_001365209.1:c.284_288del, NM_001393558.2:c.290_294del, NM_001393558.1:c.290_294del, NM_001393559.2:c.284_288del, NM_001393559.1:c.284_288del, NM_001393560.2:c.488_492del, NM_001393560.1:c.488_492del, NM_001365210.2:c.494_498del, NM_001365210.1:c.494_498del, NM_001365211.2:c.488_492del, NM_001365211.1:c.488_492del, NM_001400063.1:c.488_492del, NM_001400064.1:c.488_492del, NM_001400057.1:c.488_492del, NM_001400037.1:c.506_510del, NM_001400040.1:c.494_498del, NM_001400038.1:c.494_498del, NM_001400032.1:c.488_492del, NM_001400049.1:c.494_498del, NM_001400050.1:c.494_498del, NM_001400058.1:c.488_492del, NM_001400028.1:c.626_630del, NM_001400061.1:c.488_492del, NM_001400035.1:c.488_492del, NM_001400036.1:c.488_492del, NM_001400031.1:c.488_492del, NM_001400065.1:c.488_492del, NM_001400039.1:c.494_498del, NM_001400055.1:c.488_492del, NM_001400059.1:c.488_492del, NM_001400033.1:c.488_492del, NM_001400053.1:c.494_498del, NM_001400066.1:c.488_492del, NM_001400056.1:c.488_492del, NM_001400029.1:c.494_498del, NM_001400062.1:c.488_492del, NM_001400034.1:c.488_492del, NM_001400052.1:c.494_498del, NM_001400054.1:c.488_492del, NM_001400030.1:c.494_498del, NM_001400051.1:c.494_498del, NM_001400060.1:c.488_492del, NM_001400067.1:c.290_294del, NM_001400068.1:c.290_294del, NM_001400069.1:c.152_156del, NM_001400071.1:c.488_492del, NM_001400070.1:c.488_492del, XM_011521582.3:c.494_498del, XM_011521582.2:c.494_498del, XM_011521582.1:c.494_498del, XM_011521572.3:c.506_510del, XM_011521572.2:c.506_510del, XM_011521572.1:c.506_510del, XM_011521579.3:c.506_510del, XM_011521579.2:c.506_510del, XM_011521579.1:c.506_510del, XM_011521577.3:c.506_510del, XM_011521577.2:c.506_510del, XM_011521577.1:c.506_510del, XM_011521573.3:c.506_510del, XM_011521573.2:c.506_510del, XM_011521573.1:c.506_510del, XM_011521585.3:c.302_306del, XM_011521585.2:c.302_306del, XM_011521585.1:c.302_306del, XM_047432530.1:c.488_492del, XM_047432520.1:c.506_510del, XM_047432521.1:c.494_498del, XM_047432523.1:c.506_510del, XM_047432529.1:c.494_498del, XM_047432528.1:c.494_498del, XM_047432531.1:c.488_492del, XM_047432522.1:c.488_492del, XM_047432524.1:c.494_498del, XM_047432527.1:c.506_510del, XM_047432525.1:c.488_492del, XM_047432519.1:c.506_510del, XM_047432526.1:c.494_498del, XM_047432532.1:c.290_294del, NP_005578.2:p.Ser165fs, NP_001165365.1:p.Ser163fs, NP_001124398.1:p.Ser163fs, NP_001124399.1:p.Ser95fs, NP_001339544.1:p.Ser163fs, NP_001339546.1:p.Ser165fs, NP_001339543.1:p.Ser163fs, NP_001306135.1:p.Ser163fs, NP_001339547.1:p.Ser169fs, NP_001339545.1:p.Ser163fs, NP_001124400.1:p.Ser95fs, NP_001352130.1:p.Ser169fs, NP_001352132.1:p.Ser165fs, NP_001352137.1:p.Ser163fs, NP_001352131.1:p.Ser169fs, NP_001352133.1:p.Ser165fs, NP_001352134.1:p.Ser163fs, NP_001352135.1:p.Ser169fs, NP_001352136.1:p.Ser165fs, NP_001352138.1:p.Ser95fs, NP_001380487.1:p.Ser97fs, NP_001380488.1:p.Ser95fs, NP_001380489.1:p.Ser163fs, NP_001352139.1:p.Ser165fs, NP_001352140.1:p.Ser163fs, NP_001386992.1:p.Ser163fs, NP_001386993.1:p.Ser163fs, NP_001386986.1:p.Ser163fs, NP_001386966.1:p.Ser169fs, NP_001386969.1:p.Ser165fs, NP_001386967.1:p.Ser165fs, NP_001386961.1:p.Ser163fs, NP_001386978.1:p.Ser165fs, NP_001386979.1:p.Ser165fs, NP_001386987.1:p.Ser163fs, NP_001386957.1:p.Ser209fs, NP_001386990.1:p.Ser163fs, NP_001386964.1:p.Ser163fs, NP_001386965.1:p.Ser163fs, NP_001386960.1:p.Ser163fs, NP_001386994.1:p.Ser163fs, NP_001386968.1:p.Ser165fs, NP_001386984.1:p.Ser163fs, NP_001386988.1:p.Ser163fs, NP_001386962.1:p.Ser163fs, NP_001386982.1:p.Ser165fs, NP_001386995.1:p.Ser163fs, NP_001386985.1:p.Ser163fs, NP_001386958.1:p.Ser165fs, NP_001386991.1:p.Ser163fs, NP_001386963.1:p.Ser163fs, NP_001386981.1:p.Ser165fs, NP_001386983.1:p.Ser163fs, NP_001386959.1:p.Ser165fs, NP_001386980.1:p.Ser165fs, NP_001386989.1:p.Ser163fs, NP_001386996.1:p.Ser97fs, NP_001386997.1:p.Ser97fs, NP_001386998.1:p.Ser51fs, NP_001387000.1:p.Ser163fs, NP_001386999.1:p.Ser163fs, XP_011519884.1:p.Ser165fs, XP_011519874.1:p.Ser169fs, XP_011519881.1:p.Ser169fs, XP_011519879.1:p.Ser169fs, XP_011519875.1:p.Ser169fs, XP_011519887.1:p.Ser101fs, XP_047288486.1:p.Ser163fs, XP_047288476.1:p.Ser169fs, XP_047288477.1:p.Ser165fs, XP_047288479.1:p.Ser169fs, XP_047288485.1:p.Ser165fs, XP_047288484.1:p.Ser165fs, XP_047288487.1:p.Ser163fs, XP_047288478.1:p.Ser163fs, XP_047288480.1:p.Ser165fs, XP_047288483.1:p.Ser169fs, XP_047288481.1:p.Ser163fs, XP_047288475.1:p.Ser169fs, XP_047288482.1:p.Ser165fs, XP_047288488.1:p.Ser97fs

                                        20.

                                        rs1458236440 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          15:99690256 (GRCh38)
                                          15:100230461 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:99690255:A:G
                                          Gene:
                                          MEF2A (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.99690256A>G, NC_000015.9:g.100230461A>G, NG_016443.2:g.129329A>G, NM_005587.6:c.692A>G, NM_005587.5:c.692A>G, NM_005587.4:c.692A>G, NM_005587.3:c.692A>G, NM_005587.2:c.692A>G, NM_001171894.5:c.686A>G, NM_001171894.4:c.686A>G, NM_001171894.3:c.686A>G, NM_001171894.2:c.686A>G, NM_001171894.1:c.686A>G, NM_001130926.5:c.686A>G, NM_001130926.4:c.686A>G, NM_001130926.3:c.686A>G, NM_001130926.2:c.686A>G, NM_001130926.1:c.686A>G, NM_001130927.5:c.482A>G, NM_001130927.4:c.482A>G, NM_001130927.3:c.482A>G, NM_001130927.2:c.482A>G, NM_001130927.1:c.482A>G, NM_001352615.4:c.686A>G, NM_001352615.3:c.686A>G, NM_001352615.2:c.686A>G, NM_001352615.1:c.686A>G, NM_001352617.4:c.692A>G, NM_001352617.3:c.692A>G, NM_001352617.2:c.692A>G, NM_001352617.1:c.692A>G, NM_001352614.4:c.686A>G, NM_001352614.3:c.686A>G, NM_001352614.2:c.686A>G, NM_001352614.1:c.686A>G, NM_001319206.4:c.686A>G, NM_001319206.3:c.686A>G, NM_001319206.2:c.686A>G, NM_001319206.1:c.686A>G, NM_001352618.4:c.704A>G, NM_001352618.3:c.704A>G, NM_001352618.2:c.704A>G, NM_001352618.1:c.704A>G, NM_001352616.4:c.686A>G, NM_001352616.3:c.686A>G, NM_001352616.2:c.686A>G, NM_001352616.1:c.686A>G, NM_001130928.4:c.482A>G, NM_001130928.3:c.482A>G, NM_001130928.2:c.482A>G, NM_001130928.1:c.482A>G, NM_001365201.3:c.704A>G, NM_001365201.2:c.704A>G, NM_001365201.1:c.704A>G, NM_001365203.3:c.692A>G, NM_001365203.2:c.692A>G, NM_001365203.1:c.692A>G, NM_001365208.3:c.686A>G, NM_001365208.2:c.686A>G, NM_001365208.1:c.686A>G, NM_001365202.3:c.704A>G, NM_001365202.2:c.704A>G, NM_001365202.1:c.704A>G, NM_001365204.3:c.692A>G, NM_001365204.2:c.692A>G, NM_001365204.1:c.692A>G, NM_001365205.3:c.686A>G, NM_001365205.2:c.686A>G, NM_001365205.1:c.686A>G, NM_001365206.3:c.704A>G, NM_001365206.2:c.704A>G, NM_001365206.1:c.704A>G, NM_001365207.3:c.692A>G, NM_001365207.2:c.692A>G, NM_001365207.1:c.692A>G, NM_001365209.3:c.482A>G, NM_001365209.2:c.482A>G, NM_001365209.1:c.482A>G, NM_001393558.2:c.488A>G, NM_001393558.1:c.488A>G, NM_001393559.2:c.482A>G, NM_001393559.1:c.482A>G, NM_001400063.1:c.686A>G, NM_001400064.1:c.686A>G, NM_001400057.1:c.686A>G, NM_001400037.1:c.704A>G, NM_001400040.1:c.692A>G, NM_001400038.1:c.692A>G, NM_001400032.1:c.686A>G, NM_001400049.1:c.692A>G, NM_001400050.1:c.692A>G, NM_001400058.1:c.686A>G, NM_001400028.1:c.824A>G, NM_001400061.1:c.686A>G, NM_001400035.1:c.686A>G, NM_001400036.1:c.686A>G, NM_001400031.1:c.686A>G, NM_001400065.1:c.686A>G, NM_001400039.1:c.692A>G, NM_001400055.1:c.686A>G, NM_001400059.1:c.686A>G, NM_001400033.1:c.686A>G, NM_001400053.1:c.692A>G, NM_001400066.1:c.686A>G, NM_001400056.1:c.686A>G, NM_001400029.1:c.692A>G, NM_001400062.1:c.686A>G, NM_001400034.1:c.686A>G, NM_001400052.1:c.692A>G, NM_001400054.1:c.686A>G, NM_001400030.1:c.692A>G, NM_001400051.1:c.692A>G, NM_001400060.1:c.686A>G, NM_001400067.1:c.488A>G, NM_001400068.1:c.488A>G, NM_001400069.1:c.350A>G, XM_011521582.3:c.692A>G, XM_011521582.2:c.692A>G, XM_011521582.1:c.692A>G, XM_011521572.3:c.704A>G, XM_011521572.2:c.704A>G, XM_011521572.1:c.704A>G, XM_011521579.3:c.704A>G, XM_011521579.2:c.704A>G, XM_011521579.1:c.704A>G, XM_011521577.3:c.704A>G, XM_011521577.2:c.704A>G, XM_011521577.1:c.704A>G, XM_011521573.3:c.704A>G, XM_011521573.2:c.704A>G, XM_011521573.1:c.704A>G, XM_011521585.3:c.500A>G, XM_011521585.2:c.500A>G, XM_011521585.1:c.500A>G, XM_047432530.1:c.686A>G, XM_047432520.1:c.704A>G, XM_047432521.1:c.692A>G, XM_047432523.1:c.704A>G, XM_047432529.1:c.692A>G, XM_047432528.1:c.692A>G, XM_047432531.1:c.686A>G, XM_047432522.1:c.686A>G, XM_047432524.1:c.692A>G, XM_047432527.1:c.704A>G, XM_047432525.1:c.686A>G, XM_047432519.1:c.704A>G, XM_047432526.1:c.692A>G, XM_047432532.1:c.488A>G, NP_005578.2:p.Asn231Ser, NP_001165365.1:p.Asn229Ser, NP_001124398.1:p.Asn229Ser, NP_001124399.1:p.Asn161Ser, NP_001339544.1:p.Asn229Ser, NP_001339546.1:p.Asn231Ser, NP_001339543.1:p.Asn229Ser, NP_001306135.1:p.Asn229Ser, NP_001339547.1:p.Asn235Ser, NP_001339545.1:p.Asn229Ser, NP_001124400.1:p.Asn161Ser, NP_001352130.1:p.Asn235Ser, NP_001352132.1:p.Asn231Ser, NP_001352137.1:p.Asn229Ser, NP_001352131.1:p.Asn235Ser, NP_001352133.1:p.Asn231Ser, NP_001352134.1:p.Asn229Ser, NP_001352135.1:p.Asn235Ser, NP_001352136.1:p.Asn231Ser, NP_001352138.1:p.Asn161Ser, NP_001380487.1:p.Asn163Ser, NP_001380488.1:p.Asn161Ser, NP_001386992.1:p.Asn229Ser, NP_001386993.1:p.Asn229Ser, NP_001386986.1:p.Asn229Ser, NP_001386966.1:p.Asn235Ser, NP_001386969.1:p.Asn231Ser, NP_001386967.1:p.Asn231Ser, NP_001386961.1:p.Asn229Ser, NP_001386978.1:p.Asn231Ser, NP_001386979.1:p.Asn231Ser, NP_001386987.1:p.Asn229Ser, NP_001386957.1:p.Asn275Ser, NP_001386990.1:p.Asn229Ser, NP_001386964.1:p.Asn229Ser, NP_001386965.1:p.Asn229Ser, NP_001386960.1:p.Asn229Ser, NP_001386994.1:p.Asn229Ser, NP_001386968.1:p.Asn231Ser, NP_001386984.1:p.Asn229Ser, NP_001386988.1:p.Asn229Ser, NP_001386962.1:p.Asn229Ser, NP_001386982.1:p.Asn231Ser, NP_001386995.1:p.Asn229Ser, NP_001386985.1:p.Asn229Ser, NP_001386958.1:p.Asn231Ser, NP_001386991.1:p.Asn229Ser, NP_001386963.1:p.Asn229Ser, NP_001386981.1:p.Asn231Ser, NP_001386983.1:p.Asn229Ser, NP_001386959.1:p.Asn231Ser, NP_001386980.1:p.Asn231Ser, NP_001386989.1:p.Asn229Ser, NP_001386996.1:p.Asn163Ser, NP_001386997.1:p.Asn163Ser, NP_001386998.1:p.Asn117Ser, XP_011519884.1:p.Asn231Ser, XP_011519874.1:p.Asn235Ser, XP_011519881.1:p.Asn235Ser, XP_011519879.1:p.Asn235Ser, XP_011519875.1:p.Asn235Ser, XP_011519887.1:p.Asn167Ser, XP_047288486.1:p.Asn229Ser, XP_047288476.1:p.Asn235Ser, XP_047288477.1:p.Asn231Ser, XP_047288479.1:p.Asn235Ser, XP_047288485.1:p.Asn231Ser, XP_047288484.1:p.Asn231Ser, XP_047288487.1:p.Asn229Ser, XP_047288478.1:p.Asn229Ser, XP_047288480.1:p.Asn231Ser, XP_047288483.1:p.Asn235Ser, XP_047288481.1:p.Asn229Ser, XP_047288475.1:p.Asn235Ser, XP_047288482.1:p.Asn231Ser, XP_047288488.1:p.Asn163Ser

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