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Items: 1 to 20 of 322

1.

rs1484865720 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:35744226 (GRCh38)
    22:36140273 (GRCh37)
    Canonical SPDI:
    NC_000022.11:35744225:G:A
    Gene:
    RBFOX2 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000047/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000022.11:g.35744226G>A, NC_000022.10:g.36140273G>A, NG_029628.1:g.289313C>T, NM_001082578.4:c.1335C>T, NM_001082578.3:c.1335C>T, NM_001082578.2:c.1335C>T, NM_001082578.1:c.1335C>T, NM_001031695.4:c.1122C>T, NM_001031695.3:c.1122C>T, NM_001031695.2:c.1122C>T, NM_014309.4:c.1073C>T, NM_014309.3:c.1073C>T, NM_014309.2:c.1073C>T, NM_001082579.3:c.1332C>T, NM_001082579.2:c.1332C>T, NM_001082579.1:c.1332C>T, NM_001082576.3:c.1110C>T, NM_001082576.2:c.1110C>T, NM_001082576.1:c.1110C>T, NM_001082577.3:c.1082C>T, NM_001082577.2:c.1082C>T, NM_001082577.1:c.1082C>T, NM_001349999.2:c.1323C>T, NM_001349999.1:c.1323C>T, NM_001349998.2:c.1154C>T, NM_001349998.1:c.1154C>T, NM_001349983.2:c.1142C>T, NM_001349983.1:c.1142C>T, NM_001349997.2:c.1125C>T, NM_001349997.1:c.1125C>T, NM_001349991.2:c.1220C>T, NM_001349991.1:c.1220C>T, NM_001349982.2:c.1208C>T, NM_001349982.1:c.1208C>T, NM_001349989.2:c.1188C>T, NM_001349989.1:c.1188C>T, NM_001349996.2:c.1176C>T, NM_001349996.1:c.1176C>T, NM_001349990.2:c.1176C>T, NM_001349990.1:c.1176C>T, NM_001349992.2:c.1148C>T, NM_001349992.1:c.1148C>T, NM_001349994.2:c.1136C>T, NM_001349994.1:c.1136C>T, NM_001349995.2:c.1055C>T, NM_001349995.1:c.1055C>T, NM_001394113.1:c.1320C>T, NM_001394112.1:c.1320C>T, NM_001394108.1:c.1317C>T, NM_001394114.1:c.1283C>T, NM_001394115.1:c.1280C>T, NM_001394110.1:c.1227C>T, NM_001394109.1:c.1227C>T, NM_001394111.1:c.1187C>T, NT_187630.1:g.65224G>A, XM_006724189.4:c.1223C>T, XM_006724189.3:c.1223C>T, XM_006724189.2:c.1223C>T, XM_006724189.1:c.1223C>T, XM_006724185.3:c.1367C>T, XM_006724185.2:c.1367C>T, XM_006724185.1:c.1367C>T, XM_006724186.3:c.1364C>T, XM_006724186.2:c.1364C>T, XM_006724186.1:c.1364C>T, XM_005261428.3:c.1355C>T, XM_005261428.2:c.1355C>T, XM_005261428.1:c.1355C>T, XM_005261429.3:c.1352C>T, XM_005261429.2:c.1352C>T, XM_005261429.1:c.1352C>T, XM_006724187.3:c.1338C>T, XM_006724187.2:c.1338C>T, XM_006724187.1:c.1338C>T, XM_005261430.3:c.1326C>T, XM_005261430.2:c.1326C>T, XM_005261430.1:c.1326C>T, XM_006724188.3:c.1295C>T, XM_006724188.2:c.1295C>T, XM_006724188.1:c.1295C>T, XM_017028687.3:c.1289C>T, XM_017028687.2:c.1289C>T, XM_017028687.1:c.1289C>T, XM_006724192.3:c.1145C>T, XM_006724192.2:c.1145C>T, XM_006724192.1:c.1145C>T, XM_017028690.2:c.1175C>T, XM_017028690.1:c.1175C>T, XM_017028691.2:c.1172C>T, XM_017028691.1:c.1172C>T, XM_006724191.2:c.1157C>T, XM_006724191.1:c.1157C>T, XM_017028693.2:c.1145C>T, XM_017028693.1:c.1145C>T, XM_017028696.2:c.1113C>T, XM_017028696.1:c.1113C>T, XM_024452191.2:c.1098C>T, XM_024452191.1:c.1098C>T, XM_017028698.2:c.1070C>T, XM_017028698.1:c.1070C>T, XM_024452188.2:c.1286C>T, XM_024452188.1:c.1286C>T, XM_047441252.1:c.1142C>T, XM_047441256.1:c.1113C>T, XM_047441253.1:c.1130C>T, XM_047441258.1:c.1101C>T, XM_047441250.1:c.1211C>T, XM_017028686.1:c.1193C>T, XM_047441254.1:c.1139C>T, XM_047441257.1:c.1131C>T, XM_047441255.1:c.1116C>T, XM_047441260.1:c.1058C>T, XM_047441251.1:c.1179C>T, XM_047441259.1:c.1061C>T, NP_055124.1:p.Thr358Ile, NP_001076046.1:p.Thr361Ile, NP_001336927.1:p.Thr385Ile, NP_001336912.1:p.Thr381Ile, NP_001336920.1:p.Thr407Ile, NP_001336911.1:p.Thr403Ile, NP_001336921.1:p.Thr383Ile, NP_001336923.1:p.Thr379Ile, NP_001336924.1:p.Thr352Ile, NP_001381043.1:p.Thr428Ile, NP_001381044.1:p.Thr427Ile, NP_001381040.1:p.Thr396Ile, XP_006724252.1:p.Thr408Ile, XP_006724248.1:p.Thr456Ile, XP_006724249.1:p.Thr455Ile, XP_005261485.1:p.Thr452Ile, XP_005261486.1:p.Thr451Ile, XP_006724251.1:p.Thr432Ile, XP_016884176.1:p.Thr430Ile, XP_006724255.1:p.Thr382Ile, XP_016884179.1:p.Thr392Ile, XP_016884180.1:p.Thr391Ile, XP_006724254.1:p.Thr386Ile, XP_016884182.1:p.Thr382Ile, XP_016884187.1:p.Thr357Ile, XP_024307956.1:p.Thr429Ile, XP_047297208.1:p.Thr381Ile, XP_047297209.1:p.Thr377Ile, XP_047297206.1:p.Thr404Ile, XP_016884175.1:p.Thr398Ile, XP_047297210.1:p.Thr380Ile, XP_047297216.1:p.Thr353Ile, XP_047297215.1:p.Thr354Ile

    2.

    rs1482682814 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:35809993 (GRCh38)
      22:36206040 (GRCh37)
      Canonical SPDI:
      NC_000022.11:35809992:C:T
      Gene:
      RBFOX2 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000022.11:g.35809993C>T, NC_000022.10:g.36206040C>T, NG_029628.1:g.223546G>A, NM_001082578.4:c.249G>A, NM_001082578.3:c.249G>A, NM_001082578.2:c.249G>A, NM_001082578.1:c.249G>A, NM_001031695.4:c.39G>A, NM_001031695.3:c.39G>A, NM_001031695.2:c.39G>A, NM_014309.4:c.39G>A, NM_014309.3:c.39G>A, NM_014309.2:c.39G>A, NM_001082579.3:c.249G>A, NM_001082579.2:c.249G>A, NM_001082579.1:c.249G>A, NM_001082576.3:c.39G>A, NM_001082576.2:c.39G>A, NM_001082576.1:c.39G>A, NM_001082577.3:c.39G>A, NM_001082577.2:c.39G>A, NM_001082577.1:c.39G>A, NM_001349999.2:c.249G>A, NM_001349999.1:c.249G>A, NM_001349998.2:c.39G>A, NM_001349998.1:c.39G>A, NM_001349983.2:c.39G>A, NM_001349983.1:c.39G>A, NM_001349997.2:c.39G>A, NM_001349997.1:c.39G>A, NM_001349991.2:c.105G>A, NM_001349991.1:c.105G>A, NM_001349982.2:c.105G>A, NM_001349982.1:c.105G>A, NM_001349989.2:c.105G>A, NM_001349989.1:c.105G>A, NM_001349996.2:c.105G>A, NM_001349996.1:c.105G>A, NM_001349990.2:c.105G>A, NM_001349990.1:c.105G>A, NM_001349992.2:c.105G>A, NM_001349992.1:c.105G>A, NM_001349994.2:c.105G>A, NM_001349994.1:c.105G>A, NM_001349995.2:c.105G>A, NM_001349995.1:c.105G>A, NM_001394113.1:c.249G>A, NM_001394112.1:c.249G>A, NM_001394108.1:c.249G>A, NM_001394114.1:c.249G>A, NM_001394115.1:c.249G>A, NM_001394110.1:c.249G>A, NM_001394109.1:c.249G>A, NM_001394111.1:c.249G>A, NT_187630.1:g.130991C>T, XM_006724189.4:c.105G>A, XM_006724189.3:c.105G>A, XM_006724189.2:c.105G>A, XM_006724189.1:c.105G>A, XM_006724193.4:c.249G>A, XM_006724193.3:c.249G>A, XM_006724193.2:c.249G>A, XM_006724193.1:c.249G>A, XM_006724185.3:c.249G>A, XM_006724185.2:c.249G>A, XM_006724185.1:c.249G>A, XM_005261428.3:c.249G>A, XM_005261428.2:c.249G>A, XM_005261428.1:c.249G>A, XM_005261429.3:c.249G>A, XM_005261429.2:c.249G>A, XM_005261429.1:c.249G>A, XM_006724187.3:c.249G>A, XM_006724187.2:c.249G>A, XM_006724187.1:c.249G>A, XM_005261430.3:c.249G>A, XM_005261430.2:c.249G>A, XM_005261430.1:c.249G>A, XM_006724188.3:c.249G>A, XM_006724188.2:c.249G>A, XM_006724188.1:c.249G>A, XM_017028687.3:c.171G>A, XM_017028687.2:c.171G>A, XM_017028687.1:c.171G>A, XM_006724192.3:c.27G>A, XM_006724192.2:c.27G>A, XM_006724192.1:c.27G>A, XM_006724186.3:c.249G>A, XM_006724186.2:c.249G>A, XM_006724186.1:c.249G>A, XM_017028690.2:c.57G>A, XM_017028690.1:c.57G>A, XM_017028691.2:c.57G>A, XM_017028691.1:c.57G>A, XM_006724191.2:c.39G>A, XM_006724191.1:c.39G>A, XM_017028693.2:c.39G>A, XM_017028693.1:c.39G>A, XM_024452188.2:c.171G>A, XM_024452188.1:c.171G>A, XM_017028696.2:c.39G>A, XM_017028696.1:c.39G>A, XM_024452191.2:c.27G>A, XM_024452191.1:c.27G>A, XM_017028698.2:c.39G>A, XM_017028698.1:c.39G>A, XM_047441257.1:c.57G>A, XM_047441255.1:c.39G>A, XM_047441252.1:c.27G>A, XM_047441256.1:c.39G>A, XM_047441253.1:c.27G>A, XM_047441250.1:c.105G>A, XM_017028686.1:c.75G>A, XM_047441251.1:c.105G>A, XM_047441254.1:c.105G>A, XM_047441258.1:c.27G>A, XM_047441259.1:c.27G>A, XM_047441260.1:c.27G>A

      3.

      rs1482519163 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        22:35745939 (GRCh38)
        22:36141986 (GRCh37)
        Canonical SPDI:
        NC_000022.11:35745938:T:C
        Gene:
        RBFOX2 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_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_000022.11:g.35745939T>C, NC_000022.10:g.36141986T>C, NG_029628.1:g.287600A>G, NM_001082578.4:c.1295A>G, NM_001082578.3:c.1295A>G, NM_001082578.2:c.1295A>G, NM_001082578.1:c.1295A>G, NM_001031695.4:c.1082A>G, NM_001031695.3:c.1082A>G, NM_001031695.2:c.1082A>G, NM_014309.4:c.1033A>G, NM_014309.3:c.1033A>G, NM_014309.2:c.1033A>G, NM_001082579.3:c.1292A>G, NM_001082579.2:c.1292A>G, NM_001082579.1:c.1292A>G, NM_001082576.3:c.1070A>G, NM_001082576.2:c.1070A>G, NM_001082576.1:c.1070A>G, NM_001082577.3:c.1042A>G, NM_001082577.2:c.1042A>G, NM_001082577.1:c.1042A>G, NM_001349999.2:c.1283A>G, NM_001349999.1:c.1283A>G, NM_001349998.2:c.1114A>G, NM_001349998.1:c.1114A>G, NM_001349983.2:c.1102A>G, NM_001349983.1:c.1102A>G, NM_001349997.2:c.1085A>G, NM_001349997.1:c.1085A>G, NM_001349991.2:c.1180A>G, NM_001349991.1:c.1180A>G, NM_001349982.2:c.1168A>G, NM_001349982.1:c.1168A>G, NM_001349989.2:c.1148A>G, NM_001349989.1:c.1148A>G, NM_001349996.2:c.1136A>G, NM_001349996.1:c.1136A>G, NM_001349990.2:c.1136A>G, NM_001349990.1:c.1136A>G, NM_001349992.2:c.1108A>G, NM_001349992.1:c.1108A>G, NM_001349994.2:c.1096A>G, NM_001349994.1:c.1096A>G, NM_001349995.2:c.1015A>G, NM_001349995.1:c.1015A>G, NM_001394113.1:c.1280A>G, NM_001394112.1:c.1280A>G, NM_001394108.1:c.1277A>G, NM_001394114.1:c.1243A>G, NM_001394115.1:c.1240A>G, NM_001394110.1:c.1187A>G, NM_001394109.1:c.1187A>G, NM_001394111.1:c.1147A>G, NT_187630.1:g.66937T>C, XM_006724189.4:c.1183A>G, XM_006724189.3:c.1183A>G, XM_006724189.2:c.1183A>G, XM_006724189.1:c.1183A>G, XM_006724185.3:c.1327A>G, XM_006724185.2:c.1327A>G, XM_006724185.1:c.1327A>G, XM_006724186.3:c.1324A>G, XM_006724186.2:c.1324A>G, XM_006724186.1:c.1324A>G, XM_005261428.3:c.1315A>G, XM_005261428.2:c.1315A>G, XM_005261428.1:c.1315A>G, XM_005261429.3:c.1312A>G, XM_005261429.2:c.1312A>G, XM_005261429.1:c.1312A>G, XM_006724187.3:c.1298A>G, XM_006724187.2:c.1298A>G, XM_006724187.1:c.1298A>G, XM_005261430.3:c.1286A>G, XM_005261430.2:c.1286A>G, XM_005261430.1:c.1286A>G, XM_006724188.3:c.1255A>G, XM_006724188.2:c.1255A>G, XM_006724188.1:c.1255A>G, XM_017028687.3:c.1249A>G, XM_017028687.2:c.1249A>G, XM_017028687.1:c.1249A>G, XM_006724192.3:c.1105A>G, XM_006724192.2:c.1105A>G, XM_006724192.1:c.1105A>G, XM_017028690.2:c.1135A>G, XM_017028690.1:c.1135A>G, XM_017028691.2:c.1132A>G, XM_017028691.1:c.1132A>G, XM_006724191.2:c.1117A>G, XM_006724191.1:c.1117A>G, XM_017028693.2:c.1105A>G, XM_017028693.1:c.1105A>G, XM_017028696.2:c.1073A>G, XM_017028696.1:c.1073A>G, XM_024452191.2:c.1058A>G, XM_024452191.1:c.1058A>G, XM_017028698.2:c.1030A>G, XM_017028698.1:c.1030A>G, XM_024452188.2:c.1246A>G, XM_024452188.1:c.1246A>G, XM_047441252.1:c.1102A>G, XM_047441256.1:c.1073A>G, XM_047441253.1:c.1090A>G, XM_047441258.1:c.1061A>G, XM_047441250.1:c.1171A>G, XM_017028686.1:c.1153A>G, XM_047441254.1:c.1099A>G, XM_047441257.1:c.1091A>G, XM_047441255.1:c.1076A>G, XM_047441260.1:c.1018A>G, XM_047441251.1:c.1139A>G, XM_047441259.1:c.1021A>G, NP_001076047.2:p.Tyr432Cys, NP_001026865.1:p.Tyr361Cys, NP_055124.1:p.Met345Val, NP_001076048.2:p.Tyr431Cys, NP_001076045.1:p.Tyr357Cys, NP_001076046.1:p.Met348Val, NP_001336928.2:p.Tyr428Cys, NP_001336927.1:p.Met372Val, NP_001336912.1:p.Met368Val, NP_001336926.1:p.Tyr362Cys, NP_001336920.1:p.Met394Val, NP_001336911.1:p.Met390Val, NP_001336918.1:p.Tyr383Cys, NP_001336925.1:p.Tyr379Cys, NP_001336919.1:p.Tyr379Cys, NP_001336921.1:p.Met370Val, NP_001336923.1:p.Met366Val, NP_001336924.1:p.Met339Val, NP_001381042.1:p.Tyr427Cys, NP_001381041.1:p.Tyr427Cys, NP_001381037.1:p.Tyr426Cys, NP_001381043.1:p.Met415Val, NP_001381044.1:p.Met414Val, NP_001381039.1:p.Tyr396Cys, NP_001381038.1:p.Tyr396Cys, NP_001381040.1:p.Met383Val, XP_006724252.1:p.Met395Val, XP_006724248.1:p.Met443Val, XP_006724249.1:p.Met442Val, XP_005261485.1:p.Met439Val, XP_005261486.1:p.Met438Val, XP_006724250.1:p.Tyr433Cys, XP_005261487.1:p.Tyr429Cys, XP_006724251.1:p.Met419Val, XP_016884176.1:p.Met417Val, XP_006724255.1:p.Met369Val, XP_016884179.1:p.Met379Val, XP_016884180.1:p.Met378Val, XP_006724254.1:p.Met373Val, XP_016884182.1:p.Met369Val, XP_016884185.1:p.Tyr358Cys, XP_024307959.1:p.Tyr353Cys, XP_016884187.1:p.Met344Val, XP_024307956.1:p.Met416Val, XP_047297208.1:p.Met368Val, XP_047297212.1:p.Tyr358Cys, XP_047297209.1:p.Met364Val, XP_047297214.1:p.Tyr354Cys, XP_047297206.1:p.Met391Val, XP_016884175.1:p.Met385Val, XP_047297210.1:p.Met367Val, XP_047297213.1:p.Tyr364Cys, XP_047297211.1:p.Tyr359Cys, XP_047297216.1:p.Met340Val, XP_047297207.1:p.Tyr380Cys, XP_047297215.1:p.Met341Val

        4.

        rs1479129976 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          22:35849611 (GRCh38)
          22:36245658 (GRCh37)
          Canonical SPDI:
          NC_000022.11:35849610:A:T
          Gene:
          RBFOX2 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1478160723 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            22:35809892 (GRCh38)
            22:36205939 (GRCh37)
            Canonical SPDI:
            NC_000022.11:35809891:G:C
            Gene:
            RBFOX2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000022.11:g.35809892G>C, NC_000022.10:g.36205939G>C, NG_029628.1:g.223647C>G, NM_001082578.4:c.350C>G, NM_001082578.3:c.350C>G, NM_001082578.2:c.350C>G, NM_001082578.1:c.350C>G, NM_001031695.4:c.140C>G, NM_001031695.3:c.140C>G, NM_001031695.2:c.140C>G, NM_014309.4:c.140C>G, NM_014309.3:c.140C>G, NM_014309.2:c.140C>G, NM_001082579.3:c.350C>G, NM_001082579.2:c.350C>G, NM_001082579.1:c.350C>G, NM_001082576.3:c.140C>G, NM_001082576.2:c.140C>G, NM_001082576.1:c.140C>G, NM_001082577.3:c.140C>G, NM_001082577.2:c.140C>G, NM_001082577.1:c.140C>G, NM_001349999.2:c.350C>G, NM_001349999.1:c.350C>G, NM_001349998.2:c.140C>G, NM_001349998.1:c.140C>G, NM_001349983.2:c.140C>G, NM_001349983.1:c.140C>G, NM_001349997.2:c.140C>G, NM_001349997.1:c.140C>G, NM_001349991.2:c.206C>G, NM_001349991.1:c.206C>G, NM_001349982.2:c.206C>G, NM_001349982.1:c.206C>G, NM_001349989.2:c.206C>G, NM_001349989.1:c.206C>G, NM_001349996.2:c.206C>G, NM_001349996.1:c.206C>G, NM_001349990.2:c.206C>G, NM_001349990.1:c.206C>G, NM_001349992.2:c.206C>G, NM_001349992.1:c.206C>G, NM_001349994.2:c.206C>G, NM_001349994.1:c.206C>G, NM_001349995.2:c.206C>G, NM_001349995.1:c.206C>G, NM_001394113.1:c.350C>G, NM_001394112.1:c.350C>G, NM_001394108.1:c.350C>G, NM_001394114.1:c.350C>G, NM_001394115.1:c.350C>G, NM_001394110.1:c.350C>G, NM_001394109.1:c.350C>G, NM_001394111.1:c.350C>G, NT_187630.1:g.130890G>C, XM_006724189.4:c.206C>G, XM_006724189.3:c.206C>G, XM_006724189.2:c.206C>G, XM_006724189.1:c.206C>G, XM_006724193.4:c.350C>G, XM_006724193.3:c.350C>G, XM_006724193.2:c.350C>G, XM_006724193.1:c.350C>G, XM_006724185.3:c.350C>G, XM_006724185.2:c.350C>G, XM_006724185.1:c.350C>G, XM_005261428.3:c.350C>G, XM_005261428.2:c.350C>G, XM_005261428.1:c.350C>G, XM_005261429.3:c.350C>G, XM_005261429.2:c.350C>G, XM_005261429.1:c.350C>G, XM_006724187.3:c.350C>G, XM_006724187.2:c.350C>G, XM_006724187.1:c.350C>G, XM_005261430.3:c.350C>G, XM_005261430.2:c.350C>G, XM_005261430.1:c.350C>G, XM_006724188.3:c.350C>G, XM_006724188.2:c.350C>G, XM_006724188.1:c.350C>G, XM_017028687.3:c.272C>G, XM_017028687.2:c.272C>G, XM_017028687.1:c.272C>G, XM_006724192.3:c.128C>G, XM_006724192.2:c.128C>G, XM_006724192.1:c.128C>G, XM_006724186.3:c.350C>G, XM_006724186.2:c.350C>G, XM_006724186.1:c.350C>G, XM_017028690.2:c.158C>G, XM_017028690.1:c.158C>G, XM_017028691.2:c.158C>G, XM_017028691.1:c.158C>G, XM_006724191.2:c.140C>G, XM_006724191.1:c.140C>G, XM_017028693.2:c.140C>G, XM_017028693.1:c.140C>G, XM_024452188.2:c.272C>G, XM_024452188.1:c.272C>G, XM_017028696.2:c.140C>G, XM_017028696.1:c.140C>G, XM_024452191.2:c.128C>G, XM_024452191.1:c.128C>G, XM_017028698.2:c.140C>G, XM_017028698.1:c.140C>G, XM_047441257.1:c.158C>G, XM_047441255.1:c.140C>G, XM_047441252.1:c.128C>G, XM_047441256.1:c.140C>G, XM_047441253.1:c.128C>G, XM_047441250.1:c.206C>G, XM_017028686.1:c.176C>G, XM_047441251.1:c.206C>G, XM_047441254.1:c.206C>G, XM_047441258.1:c.128C>G, XM_047441259.1:c.128C>G, XM_047441260.1:c.128C>G, NP_001076047.2:p.Thr117Ser, NP_001026865.1:p.Thr47Ser, NP_055124.1:p.Thr47Ser, NP_001076048.2:p.Thr117Ser, NP_001076045.1:p.Thr47Ser, NP_001076046.1:p.Thr47Ser, NP_001336928.2:p.Thr117Ser, NP_001336927.1:p.Thr47Ser, NP_001336912.1:p.Thr47Ser, NP_001336926.1:p.Thr47Ser, NP_001336920.1:p.Thr69Ser, NP_001336911.1:p.Thr69Ser, NP_001336918.1:p.Thr69Ser, NP_001336925.1:p.Thr69Ser, NP_001336919.1:p.Thr69Ser, NP_001336921.1:p.Thr69Ser, NP_001336923.1:p.Thr69Ser, NP_001336924.1:p.Thr69Ser, NP_001381042.1:p.Thr117Ser, NP_001381041.1:p.Thr117Ser, NP_001381037.1:p.Thr117Ser, NP_001381043.1:p.Thr117Ser, NP_001381044.1:p.Thr117Ser, NP_001381039.1:p.Thr117Ser, NP_001381038.1:p.Thr117Ser, NP_001381040.1:p.Thr117Ser, XP_006724252.1:p.Thr69Ser, XP_006724256.1:p.Thr117Ser, XP_006724248.1:p.Thr117Ser, XP_005261485.1:p.Thr117Ser, XP_005261486.1:p.Thr117Ser, XP_006724250.1:p.Thr117Ser, XP_005261487.1:p.Thr117Ser, XP_006724251.1:p.Thr117Ser, XP_016884176.1:p.Thr91Ser, XP_006724255.1:p.Thr43Ser, XP_006724249.1:p.Thr117Ser, XP_016884179.1:p.Thr53Ser, XP_016884180.1:p.Thr53Ser, XP_006724254.1:p.Thr47Ser, XP_016884182.1:p.Thr47Ser, XP_024307956.1:p.Thr91Ser, XP_016884185.1:p.Thr47Ser, XP_024307959.1:p.Thr43Ser, XP_016884187.1:p.Thr47Ser, XP_047297213.1:p.Thr53Ser, XP_047297211.1:p.Thr47Ser, XP_047297208.1:p.Thr43Ser, XP_047297212.1:p.Thr47Ser, XP_047297209.1:p.Thr43Ser, XP_047297206.1:p.Thr69Ser, XP_016884175.1:p.Thr59Ser, XP_047297207.1:p.Thr69Ser, XP_047297210.1:p.Thr69Ser, XP_047297214.1:p.Thr43Ser, XP_047297215.1:p.Thr43Ser, XP_047297216.1:p.Thr43Ser

            6.

            rs1476245694 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              22:35745988 (GRCh38)
              22:36142035 (GRCh37)
              Canonical SPDI:
              NC_000022.11:35745987:T:C
              Gene:
              RBFOX2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000111/1 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000022.11:g.35745988T>C, NC_000022.10:g.36142035T>C, NG_029628.1:g.287551A>G, NM_001082578.4:c.1246A>G, NM_001082578.3:c.1246A>G, NM_001082578.2:c.1246A>G, NM_001082578.1:c.1246A>G, NM_001031695.4:c.1033A>G, NM_001031695.3:c.1033A>G, NM_001031695.2:c.1033A>G, NM_014309.4:c.984A>G, NM_014309.3:c.984A>G, NM_014309.2:c.984A>G, NM_001082579.3:c.1243A>G, NM_001082579.2:c.1243A>G, NM_001082579.1:c.1243A>G, NM_001082576.3:c.1021A>G, NM_001082576.2:c.1021A>G, NM_001082576.1:c.1021A>G, NM_001082577.3:c.993A>G, NM_001082577.2:c.993A>G, NM_001082577.1:c.993A>G, NM_001349999.2:c.1234A>G, NM_001349999.1:c.1234A>G, NM_001349998.2:c.1065A>G, NM_001349998.1:c.1065A>G, NM_001349983.2:c.1053A>G, NM_001349983.1:c.1053A>G, NM_001349997.2:c.1036A>G, NM_001349997.1:c.1036A>G, NM_001349991.2:c.1131A>G, NM_001349991.1:c.1131A>G, NM_001349982.2:c.1119A>G, NM_001349982.1:c.1119A>G, NM_001349989.2:c.1099A>G, NM_001349989.1:c.1099A>G, NM_001349996.2:c.1087A>G, NM_001349996.1:c.1087A>G, NM_001349990.2:c.1087A>G, NM_001349990.1:c.1087A>G, NM_001349992.2:c.1059A>G, NM_001349992.1:c.1059A>G, NM_001349994.2:c.1047A>G, NM_001349994.1:c.1047A>G, NM_001349995.2:c.966A>G, NM_001349995.1:c.966A>G, NM_001394113.1:c.1231A>G, NM_001394112.1:c.1231A>G, NM_001394108.1:c.1228A>G, NM_001394114.1:c.1194A>G, NM_001394115.1:c.1191A>G, NM_001394110.1:c.1138A>G, NM_001394109.1:c.1138A>G, NM_001394111.1:c.1098A>G, NT_187630.1:g.66986T>C, XM_006724189.4:c.1134A>G, XM_006724189.3:c.1134A>G, XM_006724189.2:c.1134A>G, XM_006724189.1:c.1134A>G, XM_006724185.3:c.1278A>G, XM_006724185.2:c.1278A>G, XM_006724185.1:c.1278A>G, XM_006724186.3:c.1275A>G, XM_006724186.2:c.1275A>G, XM_006724186.1:c.1275A>G, XM_005261428.3:c.1266A>G, XM_005261428.2:c.1266A>G, XM_005261428.1:c.1266A>G, XM_005261429.3:c.1263A>G, XM_005261429.2:c.1263A>G, XM_005261429.1:c.1263A>G, XM_006724187.3:c.1249A>G, XM_006724187.2:c.1249A>G, XM_006724187.1:c.1249A>G, XM_005261430.3:c.1237A>G, XM_005261430.2:c.1237A>G, XM_005261430.1:c.1237A>G, XM_006724188.3:c.1206A>G, XM_006724188.2:c.1206A>G, XM_006724188.1:c.1206A>G, XM_017028687.3:c.1200A>G, XM_017028687.2:c.1200A>G, XM_017028687.1:c.1200A>G, XM_006724192.3:c.1056A>G, XM_006724192.2:c.1056A>G, XM_006724192.1:c.1056A>G, XM_017028690.2:c.1086A>G, XM_017028690.1:c.1086A>G, XM_017028691.2:c.1083A>G, XM_017028691.1:c.1083A>G, XM_006724191.2:c.1068A>G, XM_006724191.1:c.1068A>G, XM_017028693.2:c.1056A>G, XM_017028693.1:c.1056A>G, XM_017028696.2:c.1024A>G, XM_017028696.1:c.1024A>G, XM_024452191.2:c.1009A>G, XM_024452191.1:c.1009A>G, XM_017028698.2:c.981A>G, XM_017028698.1:c.981A>G, XM_024452188.2:c.1197A>G, XM_024452188.1:c.1197A>G, XM_047441252.1:c.1053A>G, XM_047441256.1:c.1024A>G, XM_047441253.1:c.1041A>G, XM_047441258.1:c.1012A>G, XM_047441250.1:c.1122A>G, XM_017028686.1:c.1104A>G, XM_047441254.1:c.1050A>G, XM_047441257.1:c.1042A>G, XM_047441255.1:c.1027A>G, XM_047441260.1:c.969A>G, XM_047441251.1:c.1090A>G, XM_047441259.1:c.972A>G, NP_001076047.2:p.Arg416Gly, NP_001026865.1:p.Arg345Gly, NP_001076048.2:p.Arg415Gly, NP_001076045.1:p.Arg341Gly, NP_001336928.2:p.Arg412Gly, NP_001336926.1:p.Arg346Gly, NP_001336918.1:p.Arg367Gly, NP_001336925.1:p.Arg363Gly, NP_001336919.1:p.Arg363Gly, NP_001381042.1:p.Arg411Gly, NP_001381041.1:p.Arg411Gly, NP_001381037.1:p.Arg410Gly, NP_001381039.1:p.Arg380Gly, NP_001381038.1:p.Arg380Gly, XP_006724250.1:p.Arg417Gly, XP_005261487.1:p.Arg413Gly, XP_016884185.1:p.Arg342Gly, XP_024307959.1:p.Arg337Gly, XP_047297212.1:p.Arg342Gly, XP_047297214.1:p.Arg338Gly, XP_047297213.1:p.Arg348Gly, XP_047297211.1:p.Arg343Gly, XP_047297207.1:p.Arg364Gly

              7.

              rs1468251197 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                22:35781724 (GRCh38)
                22:36177771 (GRCh37)
                Canonical SPDI:
                NC_000022.11:35781723:G:A,NC_000022.11:35781723:G:C
                Gene:
                RBFOX2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000022.11:g.35781724G>A, NC_000022.11:g.35781724G>C, NC_000022.10:g.36177771G>A, NC_000022.10:g.36177771G>C, NG_029628.1:g.251815C>T, NG_029628.1:g.251815C>G, NM_001082578.4:c.485C>T, NM_001082578.4:c.485C>G, NM_001082578.3:c.485C>T, NM_001082578.3:c.485C>G, NM_001082578.2:c.485C>T, NM_001082578.2:c.485C>G, NM_001082578.1:c.485C>T, NM_001082578.1:c.485C>G, NM_001031695.4:c.272C>T, NM_001031695.4:c.272C>G, NM_001031695.3:c.272C>T, NM_001031695.3:c.272C>G, NM_001031695.2:c.272C>T, NM_001031695.2:c.272C>G, NM_014309.4:c.275C>T, NM_014309.4:c.275C>G, NM_014309.3:c.275C>T, NM_014309.3:c.275C>G, NM_014309.2:c.275C>T, NM_014309.2:c.275C>G, NM_001082579.3:c.482C>T, NM_001082579.3:c.482C>G, NM_001082579.2:c.482C>T, NM_001082579.2:c.482C>G, NM_001082579.1:c.482C>T, NM_001082579.1:c.482C>G, NM_001082576.3:c.272C>T, NM_001082576.3:c.272C>G, NM_001082576.2:c.272C>T, NM_001082576.2:c.272C>G, NM_001082576.1:c.272C>T, NM_001082576.1:c.272C>G, NM_001082577.3:c.272C>T, NM_001082577.3:c.272C>G, NM_001082577.2:c.272C>T, NM_001082577.2:c.272C>G, NM_001082577.1:c.272C>T, NM_001082577.1:c.272C>G, NM_001349999.2:c.485C>T, NM_001349999.2:c.485C>G, NM_001349999.1:c.485C>T, NM_001349999.1:c.485C>G, NM_001349998.2:c.272C>T, NM_001349998.2:c.272C>G, NM_001349998.1:c.272C>T, NM_001349998.1:c.272C>G, NM_001349983.2:c.272C>T, NM_001349983.2:c.272C>G, NM_001349983.1:c.272C>T, NM_001349983.1:c.272C>G, NM_001349997.2:c.275C>T, NM_001349997.2:c.275C>G, NM_001349997.1:c.275C>T, NM_001349997.1:c.275C>G, NM_001349991.2:c.338C>T, NM_001349991.2:c.338C>G, NM_001349991.1:c.338C>T, NM_001349991.1:c.338C>G, NM_001349982.2:c.338C>T, NM_001349982.2:c.338C>G, NM_001349982.1:c.338C>T, NM_001349982.1:c.338C>G, NM_001349989.2:c.338C>T, NM_001349989.2:c.338C>G, NM_001349989.1:c.338C>T, NM_001349989.1:c.338C>G, NM_001349996.2:c.341C>T, NM_001349996.2:c.341C>G, NM_001349996.1:c.341C>T, NM_001349996.1:c.341C>G, NM_001349990.2:c.338C>T, NM_001349990.2:c.338C>G, NM_001349990.1:c.338C>T, NM_001349990.1:c.338C>G, NM_001349992.2:c.338C>T, NM_001349992.2:c.338C>G, NM_001349992.1:c.338C>T, NM_001349992.1:c.338C>G, NM_001349994.2:c.338C>T, NM_001349994.2:c.338C>G, NM_001349994.1:c.338C>T, NM_001349994.1:c.338C>G, NM_001349995.2:c.338C>T, NM_001349995.2:c.338C>G, NM_001349995.1:c.338C>T, NM_001349995.1:c.338C>G, NM_001394113.1:c.482C>T, NM_001394113.1:c.482C>G, NM_001394112.1:c.485C>T, NM_001394112.1:c.485C>G, NM_001394108.1:c.482C>T, NM_001394108.1:c.482C>G, NM_001394114.1:c.485C>T, NM_001394114.1:c.485C>G, NM_001394115.1:c.482C>T, NM_001394115.1:c.482C>G, NM_001394110.1:c.482C>T, NM_001394110.1:c.482C>G, NM_001394109.1:c.485C>T, NM_001394109.1:c.485C>G, NM_001394111.1:c.482C>T, NM_001394111.1:c.482C>G, NT_187630.1:g.102722G>A, NT_187630.1:g.102722G>C, XM_006724189.4:c.341C>T, XM_006724189.4:c.341C>G, XM_006724189.3:c.341C>T, XM_006724189.3:c.341C>G, XM_006724189.2:c.341C>T, XM_006724189.2:c.341C>G, XM_006724189.1:c.341C>T, XM_006724189.1:c.341C>G, XM_006724193.4:c.485C>T, XM_006724193.4:c.485C>G, XM_006724193.3:c.485C>T, XM_006724193.3:c.485C>G, XM_006724193.2:c.485C>T, XM_006724193.2:c.485C>G, XM_006724193.1:c.485C>T, XM_006724193.1:c.485C>G, XM_006724185.3:c.485C>T, XM_006724185.3:c.485C>G, XM_006724185.2:c.485C>T, XM_006724185.2:c.485C>G, XM_006724185.1:c.485C>T, XM_006724185.1:c.485C>G, XM_005261428.3:c.485C>T, XM_005261428.3:c.485C>G, XM_005261428.2:c.485C>T, XM_005261428.2:c.485C>G, XM_005261428.1:c.485C>T, XM_005261428.1:c.485C>G, XM_005261429.3:c.482C>T, XM_005261429.3:c.482C>G, XM_005261429.2:c.482C>T, XM_005261429.2:c.482C>G, XM_005261429.1:c.482C>T, XM_005261429.1:c.482C>G, XM_006724187.3:c.485C>T, XM_006724187.3:c.485C>G, XM_006724187.2:c.485C>T, XM_006724187.2:c.485C>G, XM_006724187.1:c.485C>T, XM_006724187.1:c.485C>G, XM_005261430.3:c.485C>T, XM_005261430.3:c.485C>G, XM_005261430.2:c.485C>T, XM_005261430.2:c.485C>G, XM_005261430.1:c.485C>T, XM_005261430.1:c.485C>G, XM_006724188.3:c.485C>T, XM_006724188.3:c.485C>G, XM_006724188.2:c.485C>T, XM_006724188.2:c.485C>G, XM_006724188.1:c.485C>T, XM_006724188.1:c.485C>G, XM_017028687.3:c.407C>T, XM_017028687.3:c.407C>G, XM_017028687.2:c.407C>T, XM_017028687.2:c.407C>G, XM_017028687.1:c.407C>T, XM_017028687.1:c.407C>G, XM_006724192.3:c.263C>T, XM_006724192.3:c.263C>G, XM_006724192.2:c.263C>T, XM_006724192.2:c.263C>G, XM_006724192.1:c.263C>T, XM_006724192.1:c.263C>G, XM_006724186.3:c.482C>T, XM_006724186.3:c.482C>G, XM_006724186.2:c.482C>T, XM_006724186.2:c.482C>G, XM_006724186.1:c.482C>T, XM_006724186.1:c.482C>G, XM_017028690.2:c.293C>T, XM_017028690.2:c.293C>G, XM_017028690.1:c.293C>T, XM_017028690.1:c.293C>G, XM_017028691.2:c.290C>T, XM_017028691.2:c.290C>G, XM_017028691.1:c.290C>T, XM_017028691.1:c.290C>G, XM_006724191.2:c.275C>T, XM_006724191.2:c.275C>G, XM_006724191.1:c.275C>T, XM_006724191.1:c.275C>G, XM_017028693.2:c.275C>T, XM_017028693.2:c.275C>G, XM_017028693.1:c.275C>T, XM_017028693.1:c.275C>G, XM_024452188.2:c.404C>T, XM_024452188.2:c.404C>G, XM_024452188.1:c.404C>T, XM_024452188.1:c.404C>G, XM_017028696.2:c.275C>T, XM_017028696.2:c.275C>G, XM_017028696.1:c.275C>T, XM_017028696.1:c.275C>G, XM_024452191.2:c.260C>T, XM_024452191.2:c.260C>G, XM_024452191.1:c.260C>T, XM_024452191.1:c.260C>G, XM_017028698.2:c.272C>T, XM_017028698.2:c.272C>G, XM_017028698.1:c.272C>T, XM_017028698.1:c.272C>G, XM_047441257.1:c.290C>T, XM_047441257.1:c.290C>G, XM_047441255.1:c.275C>T, XM_047441255.1:c.275C>G, XM_047441252.1:c.260C>T, XM_047441252.1:c.260C>G, XM_047441256.1:c.272C>T, XM_047441256.1:c.272C>G, XM_047441253.1:c.260C>T, XM_047441253.1:c.260C>G, XM_047441250.1:c.341C>T, XM_047441250.1:c.341C>G, XM_017028686.1:c.311C>T, XM_017028686.1:c.311C>G, XM_047441251.1:c.341C>T, XM_047441251.1:c.341C>G, XM_047441254.1:c.341C>T, XM_047441254.1:c.341C>G, XM_047441258.1:c.260C>T, XM_047441258.1:c.260C>G, XM_047441259.1:c.263C>T, XM_047441259.1:c.263C>G, XM_047441260.1:c.260C>T, XM_047441260.1:c.260C>G, NP_001076047.2:p.Thr162Ile, NP_001076047.2:p.Thr162Arg, NP_001026865.1:p.Thr91Ile, NP_001026865.1:p.Thr91Arg, NP_055124.1:p.Thr92Ile, NP_055124.1:p.Thr92Arg, NP_001076048.2:p.Thr161Ile, NP_001076048.2:p.Thr161Arg, NP_001076045.1:p.Thr91Ile, NP_001076045.1:p.Thr91Arg, NP_001076046.1:p.Thr91Ile, NP_001076046.1:p.Thr91Arg, NP_001336928.2:p.Thr162Ile, NP_001336928.2:p.Thr162Arg, NP_001336927.1:p.Thr91Ile, NP_001336927.1:p.Thr91Arg, NP_001336912.1:p.Thr91Ile, NP_001336912.1:p.Thr91Arg, NP_001336926.1:p.Thr92Ile, NP_001336926.1:p.Thr92Arg, NP_001336920.1:p.Thr113Ile, NP_001336920.1:p.Thr113Arg, NP_001336911.1:p.Thr113Ile, NP_001336911.1:p.Thr113Arg, NP_001336918.1:p.Thr113Ile, NP_001336918.1:p.Thr113Arg, NP_001336925.1:p.Thr114Ile, NP_001336925.1:p.Thr114Arg, NP_001336919.1:p.Thr113Ile, NP_001336919.1:p.Thr113Arg, NP_001336921.1:p.Thr113Ile, NP_001336921.1:p.Thr113Arg, NP_001336923.1:p.Thr113Ile, NP_001336923.1:p.Thr113Arg, NP_001336924.1:p.Thr113Ile, NP_001336924.1:p.Thr113Arg, NP_001381042.1:p.Thr161Ile, NP_001381042.1:p.Thr161Arg, NP_001381041.1:p.Thr162Ile, NP_001381041.1:p.Thr162Arg, NP_001381037.1:p.Thr161Ile, NP_001381037.1:p.Thr161Arg, NP_001381043.1:p.Thr162Ile, NP_001381043.1:p.Thr162Arg, NP_001381044.1:p.Thr161Ile, NP_001381044.1:p.Thr161Arg, NP_001381039.1:p.Thr161Ile, NP_001381039.1:p.Thr161Arg, NP_001381038.1:p.Thr162Ile, NP_001381038.1:p.Thr162Arg, NP_001381040.1:p.Thr161Ile, NP_001381040.1:p.Thr161Arg, XP_006724252.1:p.Thr114Ile, XP_006724252.1:p.Thr114Arg, XP_006724256.1:p.Thr162Ile, XP_006724256.1:p.Thr162Arg, XP_006724248.1:p.Thr162Ile, XP_006724248.1:p.Thr162Arg, XP_005261485.1:p.Thr162Ile, XP_005261485.1:p.Thr162Arg, XP_005261486.1:p.Thr161Ile, XP_005261486.1:p.Thr161Arg, XP_006724250.1:p.Thr162Ile, XP_006724250.1:p.Thr162Arg, XP_005261487.1:p.Thr162Ile, XP_005261487.1:p.Thr162Arg, XP_006724251.1:p.Thr162Ile, XP_006724251.1:p.Thr162Arg, XP_016884176.1:p.Thr136Ile, XP_016884176.1:p.Thr136Arg, XP_006724255.1:p.Thr88Ile, XP_006724255.1:p.Thr88Arg, XP_006724249.1:p.Thr161Ile, XP_006724249.1:p.Thr161Arg, XP_016884179.1:p.Thr98Ile, XP_016884179.1:p.Thr98Arg, XP_016884180.1:p.Thr97Ile, XP_016884180.1:p.Thr97Arg, XP_006724254.1:p.Thr92Ile, XP_006724254.1:p.Thr92Arg, XP_016884182.1:p.Thr92Ile, XP_016884182.1:p.Thr92Arg, XP_024307956.1:p.Thr135Ile, XP_024307956.1:p.Thr135Arg, XP_016884185.1:p.Thr92Ile, XP_016884185.1:p.Thr92Arg, XP_024307959.1:p.Thr87Ile, XP_024307959.1:p.Thr87Arg, XP_016884187.1:p.Thr91Ile, XP_016884187.1:p.Thr91Arg, XP_047297213.1:p.Thr97Ile, XP_047297213.1:p.Thr97Arg, XP_047297211.1:p.Thr92Ile, XP_047297211.1:p.Thr92Arg, XP_047297208.1:p.Thr87Ile, XP_047297208.1:p.Thr87Arg, XP_047297212.1:p.Thr91Ile, XP_047297212.1:p.Thr91Arg, XP_047297209.1:p.Thr87Ile, XP_047297209.1:p.Thr87Arg, XP_047297206.1:p.Thr114Ile, XP_047297206.1:p.Thr114Arg, XP_016884175.1:p.Thr104Ile, XP_016884175.1:p.Thr104Arg, XP_047297207.1:p.Thr114Ile, XP_047297207.1:p.Thr114Arg, XP_047297210.1:p.Thr114Ile, XP_047297210.1:p.Thr114Arg, XP_047297214.1:p.Thr87Ile, XP_047297214.1:p.Thr87Arg, XP_047297215.1:p.Thr88Ile, XP_047297215.1:p.Thr88Arg, XP_047297216.1:p.Thr87Ile, XP_047297216.1:p.Thr87Arg

                8.

                rs1462629674 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  22:35765434 (GRCh38)
                  22:36161481 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:35765433:G:A
                  Gene:
                  RBFOX2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000022.11:g.35765434G>A, NC_000022.10:g.36161481G>A, NG_029628.1:g.268105C>T, NM_001082578.4:c.806C>T, NM_001082578.3:c.806C>T, NM_001082578.2:c.806C>T, NM_001082578.1:c.806C>T, NM_001031695.4:c.593C>T, NM_001031695.3:c.593C>T, NM_001031695.2:c.593C>T, NM_014309.4:c.596C>T, NM_014309.3:c.596C>T, NM_014309.2:c.596C>T, NM_001082579.3:c.803C>T, NM_001082579.2:c.803C>T, NM_001082579.1:c.803C>T, NM_001082576.3:c.593C>T, NM_001082576.2:c.593C>T, NM_001082576.1:c.593C>T, NM_001082577.3:c.593C>T, NM_001082577.2:c.593C>T, NM_001082577.1:c.593C>T, NM_001349999.2:c.806C>T, NM_001349999.1:c.806C>T, NM_001349998.2:c.593C>T, NM_001349998.1:c.593C>T, NM_001349983.2:c.593C>T, NM_001349983.1:c.593C>T, NM_001349997.2:c.596C>T, NM_001349997.1:c.596C>T, NM_001349991.2:c.659C>T, NM_001349991.1:c.659C>T, NM_001349982.2:c.659C>T, NM_001349982.1:c.659C>T, NM_001349989.2:c.659C>T, NM_001349989.1:c.659C>T, NM_001349996.2:c.659C>T, NM_001349996.1:c.659C>T, NM_001349990.2:c.659C>T, NM_001349990.1:c.659C>T, NM_001349992.2:c.659C>T, NM_001349992.1:c.659C>T, NM_001349994.2:c.659C>T, NM_001349994.1:c.659C>T, NM_001349995.2:c.566C>T, NM_001349995.1:c.566C>T, NM_001394113.1:c.803C>T, NM_001394112.1:c.803C>T, NM_001394108.1:c.800C>T, NM_001394114.1:c.806C>T, NM_001394115.1:c.803C>T, NM_001394110.1:c.710C>T, NM_001394109.1:c.710C>T, NM_001394111.1:c.710C>T, NT_187630.1:g.86432G>A, XM_006724189.4:c.662C>T, XM_006724189.3:c.662C>T, XM_006724189.2:c.662C>T, XM_006724189.1:c.662C>T, XM_006724193.4:c.806C>T, XM_006724193.3:c.806C>T, XM_006724193.2:c.806C>T, XM_006724193.1:c.806C>T, XM_006724185.3:c.806C>T, XM_006724185.2:c.806C>T, XM_006724185.1:c.806C>T, XM_005261428.3:c.806C>T, XM_005261428.2:c.806C>T, XM_005261428.1:c.806C>T, XM_005261429.3:c.803C>T, XM_005261429.2:c.803C>T, XM_005261429.1:c.803C>T, XM_006724187.3:c.806C>T, XM_006724187.2:c.806C>T, XM_006724187.1:c.806C>T, XM_005261430.3:c.806C>T, XM_005261430.2:c.806C>T, XM_005261430.1:c.806C>T, XM_006724188.3:c.806C>T, XM_006724188.2:c.806C>T, XM_006724188.1:c.806C>T, XM_017028687.3:c.728C>T, XM_017028687.2:c.728C>T, XM_017028687.1:c.728C>T, XM_006724192.3:c.584C>T, XM_006724192.2:c.584C>T, XM_006724192.1:c.584C>T, XM_006724186.3:c.803C>T, XM_006724186.2:c.803C>T, XM_006724186.1:c.803C>T, XM_017028690.2:c.614C>T, XM_017028690.1:c.614C>T, XM_017028691.2:c.611C>T, XM_017028691.1:c.611C>T, XM_006724191.2:c.596C>T, XM_006724191.1:c.596C>T, XM_017028693.2:c.596C>T, XM_017028693.1:c.596C>T, XM_024452188.2:c.725C>T, XM_024452188.1:c.725C>T, XM_017028696.2:c.596C>T, XM_017028696.1:c.596C>T, XM_024452191.2:c.581C>T, XM_024452191.1:c.581C>T, XM_017028698.2:c.593C>T, XM_017028698.1:c.593C>T, XM_047441257.1:c.611C>T, XM_047441255.1:c.596C>T, XM_047441252.1:c.581C>T, XM_047441256.1:c.593C>T, XM_047441253.1:c.581C>T, XM_047441250.1:c.662C>T, XM_017028686.1:c.632C>T, XM_047441251.1:c.662C>T, XM_047441254.1:c.662C>T, XM_047441258.1:c.581C>T, XM_047441259.1:c.584C>T, XM_047441260.1:c.581C>T, NP_001076047.2:p.Pro269Leu, NP_001026865.1:p.Pro198Leu, NP_055124.1:p.Pro199Leu, NP_001076048.2:p.Pro268Leu, NP_001076045.1:p.Pro198Leu, NP_001076046.1:p.Pro198Leu, NP_001336928.2:p.Pro269Leu, NP_001336927.1:p.Pro198Leu, NP_001336912.1:p.Pro198Leu, NP_001336926.1:p.Pro199Leu, NP_001336920.1:p.Pro220Leu, NP_001336911.1:p.Pro220Leu, NP_001336918.1:p.Pro220Leu, NP_001336925.1:p.Pro220Leu, NP_001336919.1:p.Pro220Leu, NP_001336921.1:p.Pro220Leu, NP_001336923.1:p.Pro220Leu, NP_001336924.1:p.Pro189Leu, NP_001381042.1:p.Pro268Leu, NP_001381041.1:p.Pro268Leu, NP_001381037.1:p.Pro267Leu, NP_001381043.1:p.Pro269Leu, NP_001381044.1:p.Pro268Leu, NP_001381039.1:p.Pro237Leu, NP_001381038.1:p.Pro237Leu, NP_001381040.1:p.Pro237Leu, XP_006724252.1:p.Pro221Leu, XP_006724256.1:p.Pro269Leu, XP_006724248.1:p.Pro269Leu, XP_005261485.1:p.Pro269Leu, XP_005261486.1:p.Pro268Leu, XP_006724250.1:p.Pro269Leu, XP_005261487.1:p.Pro269Leu, XP_006724251.1:p.Pro269Leu, XP_016884176.1:p.Pro243Leu, XP_006724255.1:p.Pro195Leu, XP_006724249.1:p.Pro268Leu, XP_016884179.1:p.Pro205Leu, XP_016884180.1:p.Pro204Leu, XP_006724254.1:p.Pro199Leu, XP_016884182.1:p.Pro199Leu, XP_024307956.1:p.Pro242Leu, XP_016884185.1:p.Pro199Leu, XP_024307959.1:p.Pro194Leu, XP_016884187.1:p.Pro198Leu, XP_047297213.1:p.Pro204Leu, XP_047297211.1:p.Pro199Leu, XP_047297208.1:p.Pro194Leu, XP_047297212.1:p.Pro198Leu, XP_047297209.1:p.Pro194Leu, XP_047297206.1:p.Pro221Leu, XP_016884175.1:p.Pro211Leu, XP_047297207.1:p.Pro221Leu, XP_047297210.1:p.Pro221Leu, XP_047297214.1:p.Pro194Leu, XP_047297215.1:p.Pro195Leu, XP_047297216.1:p.Pro194Leu

                  9.

                  rs1461664747 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:35809903 (GRCh38)
                    22:36205950 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:35809902:C:T
                    Gene:
                    RBFOX2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000022.11:g.35809903C>T, NC_000022.10:g.36205950C>T, NG_029628.1:g.223636G>A, NM_001082578.4:c.339G>A, NM_001082578.3:c.339G>A, NM_001082578.2:c.339G>A, NM_001082578.1:c.339G>A, NM_001031695.4:c.129G>A, NM_001031695.3:c.129G>A, NM_001031695.2:c.129G>A, NM_014309.4:c.129G>A, NM_014309.3:c.129G>A, NM_014309.2:c.129G>A, NM_001082579.3:c.339G>A, NM_001082579.2:c.339G>A, NM_001082579.1:c.339G>A, NM_001082576.3:c.129G>A, NM_001082576.2:c.129G>A, NM_001082576.1:c.129G>A, NM_001082577.3:c.129G>A, NM_001082577.2:c.129G>A, NM_001082577.1:c.129G>A, NM_001349999.2:c.339G>A, NM_001349999.1:c.339G>A, NM_001349998.2:c.129G>A, NM_001349998.1:c.129G>A, NM_001349983.2:c.129G>A, NM_001349983.1:c.129G>A, NM_001349997.2:c.129G>A, NM_001349997.1:c.129G>A, NM_001349991.2:c.195G>A, NM_001349991.1:c.195G>A, NM_001349982.2:c.195G>A, NM_001349982.1:c.195G>A, NM_001349989.2:c.195G>A, NM_001349989.1:c.195G>A, NM_001349996.2:c.195G>A, NM_001349996.1:c.195G>A, NM_001349990.2:c.195G>A, NM_001349990.1:c.195G>A, NM_001349992.2:c.195G>A, NM_001349992.1:c.195G>A, NM_001349994.2:c.195G>A, NM_001349994.1:c.195G>A, NM_001349995.2:c.195G>A, NM_001349995.1:c.195G>A, NM_001394113.1:c.339G>A, NM_001394112.1:c.339G>A, NM_001394108.1:c.339G>A, NM_001394114.1:c.339G>A, NM_001394115.1:c.339G>A, NM_001394110.1:c.339G>A, NM_001394109.1:c.339G>A, NM_001394111.1:c.339G>A, NT_187630.1:g.130901C>T, XM_006724189.4:c.195G>A, XM_006724189.3:c.195G>A, XM_006724189.2:c.195G>A, XM_006724189.1:c.195G>A, XM_006724193.4:c.339G>A, XM_006724193.3:c.339G>A, XM_006724193.2:c.339G>A, XM_006724193.1:c.339G>A, XM_006724185.3:c.339G>A, XM_006724185.2:c.339G>A, XM_006724185.1:c.339G>A, XM_005261428.3:c.339G>A, XM_005261428.2:c.339G>A, XM_005261428.1:c.339G>A, XM_005261429.3:c.339G>A, XM_005261429.2:c.339G>A, XM_005261429.1:c.339G>A, XM_006724187.3:c.339G>A, XM_006724187.2:c.339G>A, XM_006724187.1:c.339G>A, XM_005261430.3:c.339G>A, XM_005261430.2:c.339G>A, XM_005261430.1:c.339G>A, XM_006724188.3:c.339G>A, XM_006724188.2:c.339G>A, XM_006724188.1:c.339G>A, XM_017028687.3:c.261G>A, XM_017028687.2:c.261G>A, XM_017028687.1:c.261G>A, XM_006724192.3:c.117G>A, XM_006724192.2:c.117G>A, XM_006724192.1:c.117G>A, XM_006724186.3:c.339G>A, XM_006724186.2:c.339G>A, XM_006724186.1:c.339G>A, XM_017028690.2:c.147G>A, XM_017028690.1:c.147G>A, XM_017028691.2:c.147G>A, XM_017028691.1:c.147G>A, XM_006724191.2:c.129G>A, XM_006724191.1:c.129G>A, XM_017028693.2:c.129G>A, XM_017028693.1:c.129G>A, XM_024452188.2:c.261G>A, XM_024452188.1:c.261G>A, XM_017028696.2:c.129G>A, XM_017028696.1:c.129G>A, XM_024452191.2:c.117G>A, XM_024452191.1:c.117G>A, XM_017028698.2:c.129G>A, XM_017028698.1:c.129G>A, XM_047441257.1:c.147G>A, XM_047441255.1:c.129G>A, XM_047441252.1:c.117G>A, XM_047441256.1:c.129G>A, XM_047441253.1:c.117G>A, XM_047441250.1:c.195G>A, XM_017028686.1:c.165G>A, XM_047441251.1:c.195G>A, XM_047441254.1:c.195G>A, XM_047441258.1:c.117G>A, XM_047441259.1:c.117G>A, XM_047441260.1:c.117G>A

                    10.

                    rs1461445570 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      22:35745943 (GRCh38)
                      22:36141990 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:35745942:T:C
                      Gene:
                      RBFOX2 (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000022.11:g.35745943T>C, NC_000022.10:g.36141990T>C, NG_029628.1:g.287596A>G, NM_001082578.4:c.1291A>G, NM_001082578.3:c.1291A>G, NM_001082578.2:c.1291A>G, NM_001082578.1:c.1291A>G, NM_001031695.4:c.1078A>G, NM_001031695.3:c.1078A>G, NM_001031695.2:c.1078A>G, NM_014309.4:c.1029A>G, NM_014309.3:c.1029A>G, NM_014309.2:c.1029A>G, NM_001082579.3:c.1288A>G, NM_001082579.2:c.1288A>G, NM_001082579.1:c.1288A>G, NM_001082576.3:c.1066A>G, NM_001082576.2:c.1066A>G, NM_001082576.1:c.1066A>G, NM_001082577.3:c.1038A>G, NM_001082577.2:c.1038A>G, NM_001082577.1:c.1038A>G, NM_001349999.2:c.1279A>G, NM_001349999.1:c.1279A>G, NM_001349998.2:c.1110A>G, NM_001349998.1:c.1110A>G, NM_001349983.2:c.1098A>G, NM_001349983.1:c.1098A>G, NM_001349997.2:c.1081A>G, NM_001349997.1:c.1081A>G, NM_001349991.2:c.1176A>G, NM_001349991.1:c.1176A>G, NM_001349982.2:c.1164A>G, NM_001349982.1:c.1164A>G, NM_001349989.2:c.1144A>G, NM_001349989.1:c.1144A>G, NM_001349996.2:c.1132A>G, NM_001349996.1:c.1132A>G, NM_001349990.2:c.1132A>G, NM_001349990.1:c.1132A>G, NM_001349992.2:c.1104A>G, NM_001349992.1:c.1104A>G, NM_001349994.2:c.1092A>G, NM_001349994.1:c.1092A>G, NM_001349995.2:c.1011A>G, NM_001349995.1:c.1011A>G, NM_001394113.1:c.1276A>G, NM_001394112.1:c.1276A>G, NM_001394108.1:c.1273A>G, NM_001394114.1:c.1239A>G, NM_001394115.1:c.1236A>G, NM_001394110.1:c.1183A>G, NM_001394109.1:c.1183A>G, NM_001394111.1:c.1143A>G, NT_187630.1:g.66941T>C, XM_006724189.4:c.1179A>G, XM_006724189.3:c.1179A>G, XM_006724189.2:c.1179A>G, XM_006724189.1:c.1179A>G, XM_006724185.3:c.1323A>G, XM_006724185.2:c.1323A>G, XM_006724185.1:c.1323A>G, XM_006724186.3:c.1320A>G, XM_006724186.2:c.1320A>G, XM_006724186.1:c.1320A>G, XM_005261428.3:c.1311A>G, XM_005261428.2:c.1311A>G, XM_005261428.1:c.1311A>G, XM_005261429.3:c.1308A>G, XM_005261429.2:c.1308A>G, XM_005261429.1:c.1308A>G, XM_006724187.3:c.1294A>G, XM_006724187.2:c.1294A>G, XM_006724187.1:c.1294A>G, XM_005261430.3:c.1282A>G, XM_005261430.2:c.1282A>G, XM_005261430.1:c.1282A>G, XM_006724188.3:c.1251A>G, XM_006724188.2:c.1251A>G, XM_006724188.1:c.1251A>G, XM_017028687.3:c.1245A>G, XM_017028687.2:c.1245A>G, XM_017028687.1:c.1245A>G, XM_006724192.3:c.1101A>G, XM_006724192.2:c.1101A>G, XM_006724192.1:c.1101A>G, XM_017028690.2:c.1131A>G, XM_017028690.1:c.1131A>G, XM_017028691.2:c.1128A>G, XM_017028691.1:c.1128A>G, XM_006724191.2:c.1113A>G, XM_006724191.1:c.1113A>G, XM_017028693.2:c.1101A>G, XM_017028693.1:c.1101A>G, XM_017028696.2:c.1069A>G, XM_017028696.1:c.1069A>G, XM_024452191.2:c.1054A>G, XM_024452191.1:c.1054A>G, XM_017028698.2:c.1026A>G, XM_017028698.1:c.1026A>G, XM_024452188.2:c.1242A>G, XM_024452188.1:c.1242A>G, XM_047441252.1:c.1098A>G, XM_047441256.1:c.1069A>G, XM_047441253.1:c.1086A>G, XM_047441258.1:c.1057A>G, XM_047441250.1:c.1167A>G, XM_017028686.1:c.1149A>G, XM_047441254.1:c.1095A>G, XM_047441257.1:c.1087A>G, XM_047441255.1:c.1072A>G, XM_047441260.1:c.1014A>G, XM_047441251.1:c.1135A>G, XM_047441259.1:c.1017A>G, NP_001076047.2:p.Ser431Gly, NP_001026865.1:p.Ser360Gly, NP_001076048.2:p.Ser430Gly, NP_001076045.1:p.Ser356Gly, NP_001336928.2:p.Ser427Gly, NP_001336926.1:p.Ser361Gly, NP_001336918.1:p.Ser382Gly, NP_001336925.1:p.Ser378Gly, NP_001336919.1:p.Ser378Gly, NP_001381042.1:p.Ser426Gly, NP_001381041.1:p.Ser426Gly, NP_001381037.1:p.Ser425Gly, NP_001381039.1:p.Ser395Gly, NP_001381038.1:p.Ser395Gly, XP_006724250.1:p.Ser432Gly, XP_005261487.1:p.Ser428Gly, XP_016884185.1:p.Ser357Gly, XP_024307959.1:p.Ser352Gly, XP_047297212.1:p.Ser357Gly, XP_047297214.1:p.Ser353Gly, XP_047297213.1:p.Ser363Gly, XP_047297211.1:p.Ser358Gly, XP_047297207.1:p.Ser379Gly

                      11.

                      rs1460530439 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        22:35809811 (GRCh38)
                        22:36205858 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:35809810:T:C,NC_000022.11:35809810:T:G
                        Gene:
                        RBFOX2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000028/1 (ALFA)
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000022.11:g.35809811T>C, NC_000022.11:g.35809811T>G, NC_000022.10:g.36205858T>C, NC_000022.10:g.36205858T>G, NG_029628.1:g.223728A>G, NG_029628.1:g.223728A>C, NM_001082578.4:c.431A>G, NM_001082578.4:c.431A>C, NM_001082578.3:c.431A>G, NM_001082578.3:c.431A>C, NM_001082578.2:c.431A>G, NM_001082578.2:c.431A>C, NM_001082578.1:c.431A>G, NM_001082578.1:c.431A>C, NM_001031695.4:c.221A>G, NM_001031695.4:c.221A>C, NM_001031695.3:c.221A>G, NM_001031695.3:c.221A>C, NM_001031695.2:c.221A>G, NM_001031695.2:c.221A>C, NM_014309.4:c.221A>G, NM_014309.4:c.221A>C, NM_014309.3:c.221A>G, NM_014309.3:c.221A>C, NM_014309.2:c.221A>G, NM_014309.2:c.221A>C, NM_001082579.3:c.431A>G, NM_001082579.3:c.431A>C, NM_001082579.2:c.431A>G, NM_001082579.2:c.431A>C, NM_001082579.1:c.431A>G, NM_001082579.1:c.431A>C, NM_001082576.3:c.221A>G, NM_001082576.3:c.221A>C, NM_001082576.2:c.221A>G, NM_001082576.2:c.221A>C, NM_001082576.1:c.221A>G, NM_001082576.1:c.221A>C, NM_001082577.3:c.221A>G, NM_001082577.3:c.221A>C, NM_001082577.2:c.221A>G, NM_001082577.2:c.221A>C, NM_001082577.1:c.221A>G, NM_001082577.1:c.221A>C, NM_001349999.2:c.431A>G, NM_001349999.2:c.431A>C, NM_001349999.1:c.431A>G, NM_001349999.1:c.431A>C, NM_001349998.2:c.221A>G, NM_001349998.2:c.221A>C, NM_001349998.1:c.221A>G, NM_001349998.1:c.221A>C, NM_001349983.2:c.221A>G, NM_001349983.2:c.221A>C, NM_001349983.1:c.221A>G, NM_001349983.1:c.221A>C, NM_001349997.2:c.221A>G, NM_001349997.2:c.221A>C, NM_001349997.1:c.221A>G, NM_001349997.1:c.221A>C, NM_001349991.2:c.287A>G, NM_001349991.2:c.287A>C, NM_001349991.1:c.287A>G, NM_001349991.1:c.287A>C, NM_001349982.2:c.287A>G, NM_001349982.2:c.287A>C, NM_001349982.1:c.287A>G, NM_001349982.1:c.287A>C, NM_001349989.2:c.287A>G, NM_001349989.2:c.287A>C, NM_001349989.1:c.287A>G, NM_001349989.1:c.287A>C, NM_001349996.2:c.287A>G, NM_001349996.2:c.287A>C, NM_001349996.1:c.287A>G, NM_001349996.1:c.287A>C, NM_001349990.2:c.287A>G, NM_001349990.2:c.287A>C, NM_001349990.1:c.287A>G, NM_001349990.1:c.287A>C, NM_001349992.2:c.287A>G, NM_001349992.2:c.287A>C, NM_001349992.1:c.287A>G, NM_001349992.1:c.287A>C, NM_001349994.2:c.287A>G, NM_001349994.2:c.287A>C, NM_001349994.1:c.287A>G, NM_001349994.1:c.287A>C, NM_001349995.2:c.287A>G, NM_001349995.2:c.287A>C, NM_001349995.1:c.287A>G, NM_001349995.1:c.287A>C, NM_001394113.1:c.431A>G, NM_001394113.1:c.431A>C, NM_001394112.1:c.431A>G, NM_001394112.1:c.431A>C, NM_001394108.1:c.431A>G, NM_001394108.1:c.431A>C, NM_001394114.1:c.431A>G, NM_001394114.1:c.431A>C, NM_001394115.1:c.431A>G, NM_001394115.1:c.431A>C, NM_001394110.1:c.431A>G, NM_001394110.1:c.431A>C, NM_001394109.1:c.431A>G, NM_001394109.1:c.431A>C, NM_001394111.1:c.431A>G, NM_001394111.1:c.431A>C, NT_187630.1:g.130809T>C, NT_187630.1:g.130809T>G, XM_006724189.4:c.287A>G, XM_006724189.4:c.287A>C, XM_006724189.3:c.287A>G, XM_006724189.3:c.287A>C, XM_006724189.2:c.287A>G, XM_006724189.2:c.287A>C, XM_006724189.1:c.287A>G, XM_006724189.1:c.287A>C, XM_006724193.4:c.431A>G, XM_006724193.4:c.431A>C, XM_006724193.3:c.431A>G, XM_006724193.3:c.431A>C, XM_006724193.2:c.431A>G, XM_006724193.2:c.431A>C, XM_006724193.1:c.431A>G, XM_006724193.1:c.431A>C, XM_006724185.3:c.431A>G, XM_006724185.3:c.431A>C, XM_006724185.2:c.431A>G, XM_006724185.2:c.431A>C, XM_006724185.1:c.431A>G, XM_006724185.1:c.431A>C, XM_005261428.3:c.431A>G, XM_005261428.3:c.431A>C, XM_005261428.2:c.431A>G, XM_005261428.2:c.431A>C, XM_005261428.1:c.431A>G, XM_005261428.1:c.431A>C, XM_005261429.3:c.431A>G, XM_005261429.3:c.431A>C, XM_005261429.2:c.431A>G, XM_005261429.2:c.431A>C, XM_005261429.1:c.431A>G, XM_005261429.1:c.431A>C, XM_006724187.3:c.431A>G, XM_006724187.3:c.431A>C, XM_006724187.2:c.431A>G, XM_006724187.2:c.431A>C, XM_006724187.1:c.431A>G, XM_006724187.1:c.431A>C, XM_005261430.3:c.431A>G, XM_005261430.3:c.431A>C, XM_005261430.2:c.431A>G, XM_005261430.2:c.431A>C, XM_005261430.1:c.431A>G, XM_005261430.1:c.431A>C, XM_006724188.3:c.431A>G, XM_006724188.3:c.431A>C, XM_006724188.2:c.431A>G, XM_006724188.2:c.431A>C, XM_006724188.1:c.431A>G, XM_006724188.1:c.431A>C, XM_017028687.3:c.353A>G, XM_017028687.3:c.353A>C, XM_017028687.2:c.353A>G, XM_017028687.2:c.353A>C, XM_017028687.1:c.353A>G, XM_017028687.1:c.353A>C, XM_006724192.3:c.209A>G, XM_006724192.3:c.209A>C, XM_006724192.2:c.209A>G, XM_006724192.2:c.209A>C, XM_006724192.1:c.209A>G, XM_006724192.1:c.209A>C, XM_006724186.3:c.431A>G, XM_006724186.3:c.431A>C, XM_006724186.2:c.431A>G, XM_006724186.2:c.431A>C, XM_006724186.1:c.431A>G, XM_006724186.1:c.431A>C, XM_017028690.2:c.239A>G, XM_017028690.2:c.239A>C, XM_017028690.1:c.239A>G, XM_017028690.1:c.239A>C, XM_017028691.2:c.239A>G, XM_017028691.2:c.239A>C, XM_017028691.1:c.239A>G, XM_017028691.1:c.239A>C, XM_006724191.2:c.221A>G, XM_006724191.2:c.221A>C, XM_006724191.1:c.221A>G, XM_006724191.1:c.221A>C, XM_017028693.2:c.221A>G, XM_017028693.2:c.221A>C, XM_017028693.1:c.221A>G, XM_017028693.1:c.221A>C, XM_024452188.2:c.353A>G, XM_024452188.2:c.353A>C, XM_024452188.1:c.353A>G, XM_024452188.1:c.353A>C, XM_017028696.2:c.221A>G, XM_017028696.2:c.221A>C, XM_017028696.1:c.221A>G, XM_017028696.1:c.221A>C, XM_024452191.2:c.209A>G, XM_024452191.2:c.209A>C, XM_024452191.1:c.209A>G, XM_024452191.1:c.209A>C, XM_017028698.2:c.221A>G, XM_017028698.2:c.221A>C, XM_017028698.1:c.221A>G, XM_017028698.1:c.221A>C, XM_047441257.1:c.239A>G, XM_047441257.1:c.239A>C, XM_047441255.1:c.221A>G, XM_047441255.1:c.221A>C, XM_047441252.1:c.209A>G, XM_047441252.1:c.209A>C, XM_047441256.1:c.221A>G, XM_047441256.1:c.221A>C, XM_047441253.1:c.209A>G, XM_047441253.1:c.209A>C, XM_047441250.1:c.287A>G, XM_047441250.1:c.287A>C, XM_017028686.1:c.257A>G, XM_017028686.1:c.257A>C, XM_047441251.1:c.287A>G, XM_047441251.1:c.287A>C, XM_047441254.1:c.287A>G, XM_047441254.1:c.287A>C, XM_047441258.1:c.209A>G, XM_047441258.1:c.209A>C, XM_047441259.1:c.209A>G, XM_047441259.1:c.209A>C, XM_047441260.1:c.209A>G, XM_047441260.1:c.209A>C, NP_001076047.2:p.Asn144Ser, NP_001076047.2:p.Asn144Thr, NP_001026865.1:p.Asn74Ser, NP_001026865.1:p.Asn74Thr, NP_055124.1:p.Asn74Ser, NP_055124.1:p.Asn74Thr, NP_001076048.2:p.Asn144Ser, NP_001076048.2:p.Asn144Thr, NP_001076045.1:p.Asn74Ser, NP_001076045.1:p.Asn74Thr, NP_001076046.1:p.Asn74Ser, NP_001076046.1:p.Asn74Thr, NP_001336928.2:p.Asn144Ser, NP_001336928.2:p.Asn144Thr, NP_001336927.1:p.Asn74Ser, NP_001336927.1:p.Asn74Thr, NP_001336912.1:p.Asn74Ser, NP_001336912.1:p.Asn74Thr, NP_001336926.1:p.Asn74Ser, NP_001336926.1:p.Asn74Thr, NP_001336920.1:p.Asn96Ser, NP_001336920.1:p.Asn96Thr, NP_001336911.1:p.Asn96Ser, NP_001336911.1:p.Asn96Thr, NP_001336918.1:p.Asn96Ser, NP_001336918.1:p.Asn96Thr, NP_001336925.1:p.Asn96Ser, NP_001336925.1:p.Asn96Thr, NP_001336919.1:p.Asn96Ser, NP_001336919.1:p.Asn96Thr, NP_001336921.1:p.Asn96Ser, NP_001336921.1:p.Asn96Thr, NP_001336923.1:p.Asn96Ser, NP_001336923.1:p.Asn96Thr, NP_001336924.1:p.Asn96Ser, NP_001336924.1:p.Asn96Thr, NP_001381042.1:p.Asn144Ser, NP_001381042.1:p.Asn144Thr, NP_001381041.1:p.Asn144Ser, NP_001381041.1:p.Asn144Thr, NP_001381037.1:p.Asn144Ser, NP_001381037.1:p.Asn144Thr, NP_001381043.1:p.Asn144Ser, NP_001381043.1:p.Asn144Thr, NP_001381044.1:p.Asn144Ser, NP_001381044.1:p.Asn144Thr, NP_001381039.1:p.Asn144Ser, NP_001381039.1:p.Asn144Thr, NP_001381038.1:p.Asn144Ser, NP_001381038.1:p.Asn144Thr, NP_001381040.1:p.Asn144Ser, NP_001381040.1:p.Asn144Thr, XP_006724252.1:p.Asn96Ser, XP_006724252.1:p.Asn96Thr, XP_006724256.1:p.Asn144Ser, XP_006724256.1:p.Asn144Thr, XP_006724248.1:p.Asn144Ser, XP_006724248.1:p.Asn144Thr, XP_005261485.1:p.Asn144Ser, XP_005261485.1:p.Asn144Thr, XP_005261486.1:p.Asn144Ser, XP_005261486.1:p.Asn144Thr, XP_006724250.1:p.Asn144Ser, XP_006724250.1:p.Asn144Thr, XP_005261487.1:p.Asn144Ser, XP_005261487.1:p.Asn144Thr, XP_006724251.1:p.Asn144Ser, XP_006724251.1:p.Asn144Thr, XP_016884176.1:p.Asn118Ser, XP_016884176.1:p.Asn118Thr, XP_006724255.1:p.Asn70Ser, XP_006724255.1:p.Asn70Thr, XP_006724249.1:p.Asn144Ser, XP_006724249.1:p.Asn144Thr, XP_016884179.1:p.Asn80Ser, XP_016884179.1:p.Asn80Thr, XP_016884180.1:p.Asn80Ser, XP_016884180.1:p.Asn80Thr, XP_006724254.1:p.Asn74Ser, XP_006724254.1:p.Asn74Thr, XP_016884182.1:p.Asn74Ser, XP_016884182.1:p.Asn74Thr, XP_024307956.1:p.Asn118Ser, XP_024307956.1:p.Asn118Thr, XP_016884185.1:p.Asn74Ser, XP_016884185.1:p.Asn74Thr, XP_024307959.1:p.Asn70Ser, XP_024307959.1:p.Asn70Thr, XP_016884187.1:p.Asn74Ser, XP_016884187.1:p.Asn74Thr, XP_047297213.1:p.Asn80Ser, XP_047297213.1:p.Asn80Thr, XP_047297211.1:p.Asn74Ser, XP_047297211.1:p.Asn74Thr, XP_047297208.1:p.Asn70Ser, XP_047297208.1:p.Asn70Thr, XP_047297212.1:p.Asn74Ser, XP_047297212.1:p.Asn74Thr, XP_047297209.1:p.Asn70Ser, XP_047297209.1:p.Asn70Thr, XP_047297206.1:p.Asn96Ser, XP_047297206.1:p.Asn96Thr, XP_016884175.1:p.Asn86Ser, XP_016884175.1:p.Asn86Thr, XP_047297207.1:p.Asn96Ser, XP_047297207.1:p.Asn96Thr, XP_047297210.1:p.Asn96Ser, XP_047297210.1:p.Asn96Thr, XP_047297214.1:p.Asn70Ser, XP_047297214.1:p.Asn70Thr, XP_047297215.1:p.Asn70Ser, XP_047297215.1:p.Asn70Thr, XP_047297216.1:p.Asn70Ser, XP_047297216.1:p.Asn70Thr

                        12.

                        rs1456473573 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          22:35756105 (GRCh38)
                          22:36152152 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:35756104:A:G
                          Gene:
                          RBFOX2 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000022.11:g.35756105A>G, NC_000022.10:g.36152152A>G, NG_029628.1:g.277434T>C, NM_001082578.4:c.1149T>C, NM_001082578.3:c.1149T>C, NM_001082578.2:c.1149T>C, NM_001082578.1:c.1149T>C, NM_001031695.4:c.936T>C, NM_001031695.3:c.936T>C, NM_001031695.2:c.936T>C, NM_001082579.3:c.1146T>C, NM_001082579.2:c.1146T>C, NM_001082579.1:c.1146T>C, NM_001082576.3:c.924T>C, NM_001082576.2:c.924T>C, NM_001082576.1:c.924T>C, NM_001349999.2:c.1137T>C, NM_001349999.1:c.1137T>C, NM_001349998.2:c.936T>C, NM_001349998.1:c.936T>C, NM_001349983.2:c.924T>C, NM_001349983.1:c.924T>C, NM_001349997.2:c.939T>C, NM_001349997.1:c.939T>C, NM_001349991.2:c.1002T>C, NM_001349991.1:c.1002T>C, NM_001349982.2:c.990T>C, NM_001349982.1:c.990T>C, NM_001349989.2:c.1002T>C, NM_001349989.1:c.1002T>C, NM_001349996.2:c.990T>C, NM_001349996.1:c.990T>C, NM_001349990.2:c.990T>C, NM_001349990.1:c.990T>C, NM_001394113.1:c.1134T>C, NM_001394112.1:c.1134T>C, NM_001394108.1:c.1131T>C, NM_001394110.1:c.1041T>C, NM_001394109.1:c.1041T>C, NT_187630.1:g.77103A>G, XM_006724189.4:c.1005T>C, XM_006724189.3:c.1005T>C, XM_006724189.2:c.1005T>C, XM_006724189.1:c.1005T>C, XM_006724193.4:c.1149T>C, XM_006724193.3:c.1149T>C, XM_006724193.2:c.1149T>C, XM_006724193.1:c.1149T>C, XM_006724185.3:c.1149T>C, XM_006724185.2:c.1149T>C, XM_006724185.1:c.1149T>C, XM_005261428.3:c.1137T>C, XM_005261428.2:c.1137T>C, XM_005261428.1:c.1137T>C, XM_005261429.3:c.1134T>C, XM_005261429.2:c.1134T>C, XM_005261429.1:c.1134T>C, XM_017028687.3:c.1071T>C, XM_017028687.2:c.1071T>C, XM_017028687.1:c.1071T>C, XM_006724192.3:c.927T>C, XM_006724192.2:c.927T>C, XM_006724192.1:c.927T>C, XM_006724186.3:c.1146T>C, XM_006724186.2:c.1146T>C, XM_006724186.1:c.1146T>C, XM_017028690.2:c.957T>C, XM_017028690.1:c.957T>C, XM_017028691.2:c.954T>C, XM_017028691.1:c.954T>C, XM_006724191.2:c.939T>C, XM_006724191.1:c.939T>C, XM_017028693.2:c.927T>C, XM_017028693.1:c.927T>C, XM_024452188.2:c.1068T>C, XM_024452188.1:c.1068T>C, XM_017028696.2:c.927T>C, XM_017028696.1:c.927T>C, XM_024452191.2:c.912T>C, XM_024452191.1:c.912T>C, XM_047441252.1:c.924T>C, XM_047441253.1:c.912T>C, XM_047441250.1:c.993T>C, XM_017028686.1:c.975T>C, XM_047441251.1:c.993T>C

                          13.

                          rs1456102569 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            22:35765462 (GRCh38)
                            22:36161509 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:35765461:C:A
                            Gene:
                            RBFOX2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000022.11:g.35765462C>A, NC_000022.10:g.36161509C>A, NG_029628.1:g.268077G>T, NM_001082578.4:c.778G>T, NM_001082578.3:c.778G>T, NM_001082578.2:c.778G>T, NM_001082578.1:c.778G>T, NM_001031695.4:c.565G>T, NM_001031695.3:c.565G>T, NM_001031695.2:c.565G>T, NM_014309.4:c.568G>T, NM_014309.3:c.568G>T, NM_014309.2:c.568G>T, NM_001082579.3:c.775G>T, NM_001082579.2:c.775G>T, NM_001082579.1:c.775G>T, NM_001082576.3:c.565G>T, NM_001082576.2:c.565G>T, NM_001082576.1:c.565G>T, NM_001082577.3:c.565G>T, NM_001082577.2:c.565G>T, NM_001082577.1:c.565G>T, NM_001349999.2:c.778G>T, NM_001349999.1:c.778G>T, NM_001349998.2:c.565G>T, NM_001349998.1:c.565G>T, NM_001349983.2:c.565G>T, NM_001349983.1:c.565G>T, NM_001349997.2:c.568G>T, NM_001349997.1:c.568G>T, NM_001349991.2:c.631G>T, NM_001349991.1:c.631G>T, NM_001349982.2:c.631G>T, NM_001349982.1:c.631G>T, NM_001349989.2:c.631G>T, NM_001349989.1:c.631G>T, NM_001349996.2:c.631G>T, NM_001349996.1:c.631G>T, NM_001349990.2:c.631G>T, NM_001349990.1:c.631G>T, NM_001349992.2:c.631G>T, NM_001349992.1:c.631G>T, NM_001349994.2:c.631G>T, NM_001349994.1:c.631G>T, NM_001349995.2:c.538G>T, NM_001349995.1:c.538G>T, NM_001394113.1:c.775G>T, NM_001394112.1:c.775G>T, NM_001394108.1:c.772G>T, NM_001394114.1:c.778G>T, NM_001394115.1:c.775G>T, NM_001394110.1:c.682G>T, NM_001394109.1:c.682G>T, NM_001394111.1:c.682G>T, NT_187630.1:g.86460C>A, XM_006724189.4:c.634G>T, XM_006724189.3:c.634G>T, XM_006724189.2:c.634G>T, XM_006724189.1:c.634G>T, XM_006724193.4:c.778G>T, XM_006724193.3:c.778G>T, XM_006724193.2:c.778G>T, XM_006724193.1:c.778G>T, XM_006724185.3:c.778G>T, XM_006724185.2:c.778G>T, XM_006724185.1:c.778G>T, XM_005261428.3:c.778G>T, XM_005261428.2:c.778G>T, XM_005261428.1:c.778G>T, XM_005261429.3:c.775G>T, XM_005261429.2:c.775G>T, XM_005261429.1:c.775G>T, XM_006724187.3:c.778G>T, XM_006724187.2:c.778G>T, XM_006724187.1:c.778G>T, XM_005261430.3:c.778G>T, XM_005261430.2:c.778G>T, XM_005261430.1:c.778G>T, XM_006724188.3:c.778G>T, XM_006724188.2:c.778G>T, XM_006724188.1:c.778G>T, XM_017028687.3:c.700G>T, XM_017028687.2:c.700G>T, XM_017028687.1:c.700G>T, XM_006724192.3:c.556G>T, XM_006724192.2:c.556G>T, XM_006724192.1:c.556G>T, XM_006724186.3:c.775G>T, XM_006724186.2:c.775G>T, XM_006724186.1:c.775G>T, XM_017028690.2:c.586G>T, XM_017028690.1:c.586G>T, XM_017028691.2:c.583G>T, XM_017028691.1:c.583G>T, XM_006724191.2:c.568G>T, XM_006724191.1:c.568G>T, XM_017028693.2:c.568G>T, XM_017028693.1:c.568G>T, XM_024452188.2:c.697G>T, XM_024452188.1:c.697G>T, XM_017028696.2:c.568G>T, XM_017028696.1:c.568G>T, XM_024452191.2:c.553G>T, XM_024452191.1:c.553G>T, XM_017028698.2:c.565G>T, XM_017028698.1:c.565G>T, XM_047441257.1:c.583G>T, XM_047441255.1:c.568G>T, XM_047441252.1:c.553G>T, XM_047441256.1:c.565G>T, XM_047441253.1:c.553G>T, XM_047441250.1:c.634G>T, XM_017028686.1:c.604G>T, XM_047441251.1:c.634G>T, XM_047441254.1:c.634G>T, XM_047441258.1:c.553G>T, XM_047441259.1:c.556G>T, XM_047441260.1:c.553G>T, NP_001076047.2:p.Val260Leu, NP_001026865.1:p.Val189Leu, NP_055124.1:p.Val190Leu, NP_001076048.2:p.Val259Leu, NP_001076045.1:p.Val189Leu, NP_001076046.1:p.Val189Leu, NP_001336928.2:p.Val260Leu, NP_001336927.1:p.Val189Leu, NP_001336912.1:p.Val189Leu, NP_001336926.1:p.Val190Leu, NP_001336920.1:p.Val211Leu, NP_001336911.1:p.Val211Leu, NP_001336918.1:p.Val211Leu, NP_001336925.1:p.Val211Leu, NP_001336919.1:p.Val211Leu, NP_001336921.1:p.Val211Leu, NP_001336923.1:p.Val211Leu, NP_001336924.1:p.Val180Leu, NP_001381042.1:p.Val259Leu, NP_001381041.1:p.Val259Leu, NP_001381037.1:p.Val258Leu, NP_001381043.1:p.Val260Leu, NP_001381044.1:p.Val259Leu, NP_001381039.1:p.Val228Leu, NP_001381038.1:p.Val228Leu, NP_001381040.1:p.Val228Leu, XP_006724252.1:p.Val212Leu, XP_006724256.1:p.Val260Leu, XP_006724248.1:p.Val260Leu, XP_005261485.1:p.Val260Leu, XP_005261486.1:p.Val259Leu, XP_006724250.1:p.Val260Leu, XP_005261487.1:p.Val260Leu, XP_006724251.1:p.Val260Leu, XP_016884176.1:p.Val234Leu, XP_006724255.1:p.Val186Leu, XP_006724249.1:p.Val259Leu, XP_016884179.1:p.Val196Leu, XP_016884180.1:p.Val195Leu, XP_006724254.1:p.Val190Leu, XP_016884182.1:p.Val190Leu, XP_024307956.1:p.Val233Leu, XP_016884185.1:p.Val190Leu, XP_024307959.1:p.Val185Leu, XP_016884187.1:p.Val189Leu, XP_047297213.1:p.Val195Leu, XP_047297211.1:p.Val190Leu, XP_047297208.1:p.Val185Leu, XP_047297212.1:p.Val189Leu, XP_047297209.1:p.Val185Leu, XP_047297206.1:p.Val212Leu, XP_016884175.1:p.Val202Leu, XP_047297207.1:p.Val212Leu, XP_047297210.1:p.Val212Leu, XP_047297214.1:p.Val185Leu, XP_047297215.1:p.Val186Leu, XP_047297216.1:p.Val185Leu

                            14.

                            rs1455178220 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:35849605 (GRCh38)
                              22:36245652 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:35849604:T:C
                              Gene:
                              RBFOX2 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1455026971 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                22:35761223 (GRCh38)
                                22:36157270 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:35761222:T:C
                                Gene:
                                RBFOX2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000022.11:g.35761223T>C, NC_000022.10:g.36157270T>C, NG_029628.1:g.272316A>G, NM_001082578.4:c.943A>G, NM_001082578.3:c.943A>G, NM_001082578.2:c.943A>G, NM_001082578.1:c.943A>G, NM_001031695.4:c.730A>G, NM_001031695.3:c.730A>G, NM_001031695.2:c.730A>G, NM_014309.4:c.733A>G, NM_014309.3:c.733A>G, NM_014309.2:c.733A>G, NM_001082579.3:c.940A>G, NM_001082579.2:c.940A>G, NM_001082579.1:c.940A>G, NM_001082576.3:c.730A>G, NM_001082576.2:c.730A>G, NM_001082576.1:c.730A>G, NM_001082577.3:c.730A>G, NM_001082577.2:c.730A>G, NM_001082577.1:c.730A>G, NM_001349999.2:c.943A>G, NM_001349999.1:c.943A>G, NM_001349998.2:c.730A>G, NM_001349998.1:c.730A>G, NM_001349983.2:c.730A>G, NM_001349983.1:c.730A>G, NM_001349997.2:c.733A>G, NM_001349997.1:c.733A>G, NM_001349991.2:c.796A>G, NM_001349991.1:c.796A>G, NM_001349982.2:c.796A>G, NM_001349982.1:c.796A>G, NM_001349989.2:c.796A>G, NM_001349989.1:c.796A>G, NM_001349996.2:c.796A>G, NM_001349996.1:c.796A>G, NM_001349990.2:c.796A>G, NM_001349990.1:c.796A>G, NM_001349992.2:c.796A>G, NM_001349992.1:c.796A>G, NM_001349994.2:c.796A>G, NM_001349994.1:c.796A>G, NM_001349995.2:c.703A>G, NM_001349995.1:c.703A>G, NM_001394113.1:c.940A>G, NM_001394112.1:c.940A>G, NM_001394108.1:c.937A>G, NM_001394114.1:c.943A>G, NM_001394115.1:c.940A>G, NM_001394110.1:c.847A>G, NM_001394109.1:c.847A>G, NM_001394111.1:c.847A>G, NT_187630.1:g.82221T>C, XM_006724189.4:c.799A>G, XM_006724189.3:c.799A>G, XM_006724189.2:c.799A>G, XM_006724189.1:c.799A>G, XM_006724193.4:c.943A>G, XM_006724193.3:c.943A>G, XM_006724193.2:c.943A>G, XM_006724193.1:c.943A>G, XM_006724185.3:c.943A>G, XM_006724185.2:c.943A>G, XM_006724185.1:c.943A>G, XM_005261428.3:c.943A>G, XM_005261428.2:c.943A>G, XM_005261428.1:c.943A>G, XM_005261429.3:c.940A>G, XM_005261429.2:c.940A>G, XM_005261429.1:c.940A>G, XM_006724187.3:c.943A>G, XM_006724187.2:c.943A>G, XM_006724187.1:c.943A>G, XM_005261430.3:c.943A>G, XM_005261430.2:c.943A>G, XM_005261430.1:c.943A>G, XM_006724188.3:c.943A>G, XM_006724188.2:c.943A>G, XM_006724188.1:c.943A>G, XM_017028687.3:c.865A>G, XM_017028687.2:c.865A>G, XM_017028687.1:c.865A>G, XM_006724192.3:c.721A>G, XM_006724192.2:c.721A>G, XM_006724192.1:c.721A>G, XM_006724186.3:c.940A>G, XM_006724186.2:c.940A>G, XM_006724186.1:c.940A>G, XM_017028690.2:c.751A>G, XM_017028690.1:c.751A>G, XM_017028691.2:c.748A>G, XM_017028691.1:c.748A>G, XM_006724191.2:c.733A>G, XM_006724191.1:c.733A>G, XM_017028693.2:c.733A>G, XM_017028693.1:c.733A>G, XM_024452188.2:c.862A>G, XM_024452188.1:c.862A>G, XM_017028696.2:c.733A>G, XM_017028696.1:c.733A>G, XM_024452191.2:c.718A>G, XM_024452191.1:c.718A>G, XM_017028698.2:c.730A>G, XM_017028698.1:c.730A>G, XM_047441257.1:c.748A>G, XM_047441255.1:c.733A>G, XM_047441252.1:c.718A>G, XM_047441256.1:c.730A>G, XM_047441253.1:c.718A>G, XM_047441250.1:c.799A>G, XM_017028686.1:c.769A>G, XM_047441251.1:c.799A>G, XM_047441254.1:c.799A>G, XM_047441258.1:c.718A>G, XM_047441259.1:c.721A>G, XM_047441260.1:c.718A>G, NP_001076047.2:p.Asn315Asp, NP_001026865.1:p.Asn244Asp, NP_055124.1:p.Asn245Asp, NP_001076048.2:p.Asn314Asp, NP_001076045.1:p.Asn244Asp, NP_001076046.1:p.Asn244Asp, NP_001336928.2:p.Asn315Asp, NP_001336927.1:p.Asn244Asp, NP_001336912.1:p.Asn244Asp, NP_001336926.1:p.Asn245Asp, NP_001336920.1:p.Asn266Asp, NP_001336911.1:p.Asn266Asp, NP_001336918.1:p.Asn266Asp, NP_001336925.1:p.Asn266Asp, NP_001336919.1:p.Asn266Asp, NP_001336921.1:p.Asn266Asp, NP_001336923.1:p.Asn266Asp, NP_001336924.1:p.Asn235Asp, NP_001381042.1:p.Asn314Asp, NP_001381041.1:p.Asn314Asp, NP_001381037.1:p.Asn313Asp, NP_001381043.1:p.Asn315Asp, NP_001381044.1:p.Asn314Asp, NP_001381039.1:p.Asn283Asp, NP_001381038.1:p.Asn283Asp, NP_001381040.1:p.Asn283Asp, XP_006724252.1:p.Asn267Asp, XP_006724256.1:p.Asn315Asp, XP_006724248.1:p.Asn315Asp, XP_005261485.1:p.Asn315Asp, XP_005261486.1:p.Asn314Asp, XP_006724250.1:p.Asn315Asp, XP_005261487.1:p.Asn315Asp, XP_006724251.1:p.Asn315Asp, XP_016884176.1:p.Asn289Asp, XP_006724255.1:p.Asn241Asp, XP_006724249.1:p.Asn314Asp, XP_016884179.1:p.Asn251Asp, XP_016884180.1:p.Asn250Asp, XP_006724254.1:p.Asn245Asp, XP_016884182.1:p.Asn245Asp, XP_024307956.1:p.Asn288Asp, XP_016884185.1:p.Asn245Asp, XP_024307959.1:p.Asn240Asp, XP_016884187.1:p.Asn244Asp, XP_047297213.1:p.Asn250Asp, XP_047297211.1:p.Asn245Asp, XP_047297208.1:p.Asn240Asp, XP_047297212.1:p.Asn244Asp, XP_047297209.1:p.Asn240Asp, XP_047297206.1:p.Asn267Asp, XP_016884175.1:p.Asn257Asp, XP_047297207.1:p.Asn267Asp, XP_047297210.1:p.Asn267Asp, XP_047297214.1:p.Asn240Asp, XP_047297215.1:p.Asn241Asp, XP_047297216.1:p.Asn240Asp

                                16.

                                rs1445732231 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  22:35759973 (GRCh38)
                                  22:36156020 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:35759972:T:C
                                  Gene:
                                  RBFOX2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.35759973T>C, NC_000022.10:g.36156020T>C, NG_029628.1:g.273566A>G, NM_001082578.4:c.1024A>G, NM_001082578.3:c.1024A>G, NM_001082578.2:c.1024A>G, NM_001082578.1:c.1024A>G, NM_001031695.4:c.811A>G, NM_001031695.3:c.811A>G, NM_001031695.2:c.811A>G, NM_014309.4:c.802A>G, NM_014309.3:c.802A>G, NM_014309.2:c.802A>G, NM_001082579.3:c.1021A>G, NM_001082579.2:c.1021A>G, NM_001082579.1:c.1021A>G, NM_001082576.3:c.799A>G, NM_001082576.2:c.799A>G, NM_001082576.1:c.799A>G, NM_001082577.3:c.811A>G, NM_001082577.2:c.811A>G, NM_001082577.1:c.811A>G, NM_001349999.2:c.1012A>G, NM_001349999.1:c.1012A>G, NM_001349998.2:c.811A>G, NM_001349998.1:c.811A>G, NM_001349983.2:c.799A>G, NM_001349983.1:c.799A>G, NM_001349997.2:c.814A>G, NM_001349997.1:c.814A>G, NM_001349991.2:c.877A>G, NM_001349991.1:c.877A>G, NM_001349982.2:c.865A>G, NM_001349982.1:c.865A>G, NM_001349989.2:c.877A>G, NM_001349989.1:c.877A>G, NM_001349996.2:c.865A>G, NM_001349996.1:c.865A>G, NM_001349990.2:c.865A>G, NM_001349990.1:c.865A>G, NM_001349992.2:c.877A>G, NM_001349992.1:c.877A>G, NM_001349994.2:c.865A>G, NM_001349994.1:c.865A>G, NM_001349995.2:c.784A>G, NM_001349995.1:c.784A>G, NM_001394113.1:c.1009A>G, NM_001394112.1:c.1009A>G, NM_001394108.1:c.1006A>G, NM_001394114.1:c.1012A>G, NM_001394115.1:c.1009A>G, NM_001394110.1:c.916A>G, NM_001394109.1:c.916A>G, NM_001394111.1:c.916A>G, NT_187630.1:g.80971T>C, XM_006724189.4:c.880A>G, XM_006724189.3:c.880A>G, XM_006724189.2:c.880A>G, XM_006724189.1:c.880A>G, XM_006724193.4:c.1024A>G, XM_006724193.3:c.1024A>G, XM_006724193.2:c.1024A>G, XM_006724193.1:c.1024A>G, XM_006724185.3:c.1024A>G, XM_006724185.2:c.1024A>G, XM_006724185.1:c.1024A>G, XM_005261428.3:c.1012A>G, XM_005261428.2:c.1012A>G, XM_005261428.1:c.1012A>G, XM_005261429.3:c.1009A>G, XM_005261429.2:c.1009A>G, XM_005261429.1:c.1009A>G, XM_006724187.3:c.1024A>G, XM_006724187.2:c.1024A>G, XM_006724187.1:c.1024A>G, XM_005261430.3:c.1012A>G, XM_005261430.2:c.1012A>G, XM_005261430.1:c.1012A>G, XM_006724188.3:c.1024A>G, XM_006724188.2:c.1024A>G, XM_006724188.1:c.1024A>G, XM_017028687.3:c.946A>G, XM_017028687.2:c.946A>G, XM_017028687.1:c.946A>G, XM_006724192.3:c.802A>G, XM_006724192.2:c.802A>G, XM_006724192.1:c.802A>G, XM_006724186.3:c.1021A>G, XM_006724186.2:c.1021A>G, XM_006724186.1:c.1021A>G, XM_017028690.2:c.832A>G, XM_017028690.1:c.832A>G, XM_017028691.2:c.829A>G, XM_017028691.1:c.829A>G, XM_006724191.2:c.814A>G, XM_006724191.1:c.814A>G, XM_017028693.2:c.802A>G, XM_017028693.1:c.802A>G, XM_024452188.2:c.943A>G, XM_024452188.1:c.943A>G, XM_017028696.2:c.802A>G, XM_017028696.1:c.802A>G, XM_024452191.2:c.787A>G, XM_024452191.1:c.787A>G, XM_017028698.2:c.799A>G, XM_017028698.1:c.799A>G, XM_047441257.1:c.817A>G, XM_047441255.1:c.802A>G, XM_047441252.1:c.799A>G, XM_047441256.1:c.799A>G, XM_047441253.1:c.787A>G, XM_047441250.1:c.868A>G, XM_017028686.1:c.850A>G, XM_047441251.1:c.868A>G, XM_047441254.1:c.868A>G, XM_047441258.1:c.787A>G, XM_047441259.1:c.790A>G, XM_047441260.1:c.787A>G, NP_001076047.2:p.Arg342Gly, NP_001026865.1:p.Arg271Gly, NP_055124.1:p.Arg268Gly, NP_001076048.2:p.Arg341Gly, NP_001076045.1:p.Arg267Gly, NP_001076046.1:p.Arg271Gly, NP_001336928.2:p.Arg338Gly, NP_001336927.1:p.Arg271Gly, NP_001336912.1:p.Arg267Gly, NP_001336926.1:p.Arg272Gly, NP_001336920.1:p.Arg293Gly, NP_001336911.1:p.Arg289Gly, NP_001336918.1:p.Arg293Gly, NP_001336925.1:p.Arg289Gly, NP_001336919.1:p.Arg289Gly, NP_001336921.1:p.Arg293Gly, NP_001336923.1:p.Arg289Gly, NP_001336924.1:p.Arg262Gly, NP_001381042.1:p.Arg337Gly, NP_001381041.1:p.Arg337Gly, NP_001381037.1:p.Arg336Gly, NP_001381043.1:p.Arg338Gly, NP_001381044.1:p.Arg337Gly, NP_001381039.1:p.Arg306Gly, NP_001381038.1:p.Arg306Gly, NP_001381040.1:p.Arg306Gly, XP_006724252.1:p.Arg294Gly, XP_006724256.1:p.Arg342Gly, XP_006724248.1:p.Arg342Gly, XP_005261485.1:p.Arg338Gly, XP_005261486.1:p.Arg337Gly, XP_006724250.1:p.Arg342Gly, XP_005261487.1:p.Arg338Gly, XP_006724251.1:p.Arg342Gly, XP_016884176.1:p.Arg316Gly, XP_006724255.1:p.Arg268Gly, XP_006724249.1:p.Arg341Gly, XP_016884179.1:p.Arg278Gly, XP_016884180.1:p.Arg277Gly, XP_006724254.1:p.Arg272Gly, XP_016884182.1:p.Arg268Gly, XP_024307956.1:p.Arg315Gly, XP_016884185.1:p.Arg268Gly, XP_024307959.1:p.Arg263Gly, XP_016884187.1:p.Arg267Gly, XP_047297213.1:p.Arg273Gly, XP_047297211.1:p.Arg268Gly, XP_047297208.1:p.Arg267Gly, XP_047297212.1:p.Arg267Gly, XP_047297209.1:p.Arg263Gly, XP_047297206.1:p.Arg290Gly, XP_016884175.1:p.Arg284Gly, XP_047297207.1:p.Arg290Gly, XP_047297210.1:p.Arg290Gly, XP_047297214.1:p.Arg263Gly, XP_047297215.1:p.Arg264Gly, XP_047297216.1:p.Arg263Gly

                                  17.

                                  rs1443922322 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    22:35768301 (GRCh38)
                                    22:36164348 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:35768300:T:C
                                    Gene:
                                    RBFOX2 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_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_000022.11:g.35768301T>C, NC_000022.10:g.36164348T>C, NG_029628.1:g.265238A>G, NM_001082578.4:c.712A>G, NM_001082578.3:c.712A>G, NM_001082578.2:c.712A>G, NM_001082578.1:c.712A>G, NM_001031695.4:c.499A>G, NM_001031695.3:c.499A>G, NM_001031695.2:c.499A>G, NM_014309.4:c.502A>G, NM_014309.3:c.502A>G, NM_014309.2:c.502A>G, NM_001082579.3:c.709A>G, NM_001082579.2:c.709A>G, NM_001082579.1:c.709A>G, NM_001082576.3:c.499A>G, NM_001082576.2:c.499A>G, NM_001082576.1:c.499A>G, NM_001082577.3:c.499A>G, NM_001082577.2:c.499A>G, NM_001082577.1:c.499A>G, NM_001349999.2:c.712A>G, NM_001349999.1:c.712A>G, NM_001349998.2:c.499A>G, NM_001349998.1:c.499A>G, NM_001349983.2:c.499A>G, NM_001349983.1:c.499A>G, NM_001349997.2:c.502A>G, NM_001349997.1:c.502A>G, NM_001349991.2:c.565A>G, NM_001349991.1:c.565A>G, NM_001349982.2:c.565A>G, NM_001349982.1:c.565A>G, NM_001349989.2:c.565A>G, NM_001349989.1:c.565A>G, NM_001349996.2:c.565A>G, NM_001349996.1:c.565A>G, NM_001349990.2:c.565A>G, NM_001349990.1:c.565A>G, NM_001349992.2:c.565A>G, NM_001349992.1:c.565A>G, NM_001349994.2:c.565A>G, NM_001349994.1:c.565A>G, NM_001394113.1:c.709A>G, NM_001394112.1:c.709A>G, NM_001394108.1:c.706A>G, NM_001394114.1:c.712A>G, NM_001394115.1:c.709A>G, NT_187630.1:g.89299T>C, XM_006724189.4:c.568A>G, XM_006724189.3:c.568A>G, XM_006724189.2:c.568A>G, XM_006724189.1:c.568A>G, XM_006724193.4:c.712A>G, XM_006724193.3:c.712A>G, XM_006724193.2:c.712A>G, XM_006724193.1:c.712A>G, XM_006724185.3:c.712A>G, XM_006724185.2:c.712A>G, XM_006724185.1:c.712A>G, XM_005261428.3:c.712A>G, XM_005261428.2:c.712A>G, XM_005261428.1:c.712A>G, XM_005261429.3:c.709A>G, XM_005261429.2:c.709A>G, XM_005261429.1:c.709A>G, XM_006724187.3:c.712A>G, XM_006724187.2:c.712A>G, XM_006724187.1:c.712A>G, XM_005261430.3:c.712A>G, XM_005261430.2:c.712A>G, XM_005261430.1:c.712A>G, XM_006724188.3:c.712A>G, XM_006724188.2:c.712A>G, XM_006724188.1:c.712A>G, XM_017028687.3:c.634A>G, XM_017028687.2:c.634A>G, XM_017028687.1:c.634A>G, XM_006724192.3:c.490A>G, XM_006724192.2:c.490A>G, XM_006724192.1:c.490A>G, XM_006724186.3:c.709A>G, XM_006724186.2:c.709A>G, XM_006724186.1:c.709A>G, XM_017028690.2:c.520A>G, XM_017028690.1:c.520A>G, XM_017028691.2:c.517A>G, XM_017028691.1:c.517A>G, XM_006724191.2:c.502A>G, XM_006724191.1:c.502A>G, XM_017028693.2:c.502A>G, XM_017028693.1:c.502A>G, XM_024452188.2:c.631A>G, XM_024452188.1:c.631A>G, XM_017028696.2:c.502A>G, XM_017028696.1:c.502A>G, XM_024452191.2:c.487A>G, XM_024452191.1:c.487A>G, XM_017028698.2:c.499A>G, XM_017028698.1:c.499A>G, XM_047441257.1:c.517A>G, XM_047441255.1:c.502A>G, XM_047441252.1:c.487A>G, XM_047441256.1:c.499A>G, XM_047441253.1:c.487A>G, XM_047441250.1:c.568A>G, XM_017028686.1:c.538A>G, XM_047441251.1:c.568A>G, XM_047441254.1:c.568A>G, XM_047441258.1:c.487A>G, XM_047441259.1:c.490A>G, XM_047441260.1:c.487A>G, NP_001076047.2:p.Arg238Gly, NP_001026865.1:p.Arg167Gly, NP_055124.1:p.Arg168Gly, NP_001076048.2:p.Arg237Gly, NP_001076045.1:p.Arg167Gly, NP_001076046.1:p.Arg167Gly, NP_001336928.2:p.Arg238Gly, NP_001336927.1:p.Arg167Gly, NP_001336912.1:p.Arg167Gly, NP_001336926.1:p.Arg168Gly, NP_001336920.1:p.Arg189Gly, NP_001336911.1:p.Arg189Gly, NP_001336918.1:p.Arg189Gly, NP_001336925.1:p.Arg189Gly, NP_001336919.1:p.Arg189Gly, NP_001336921.1:p.Arg189Gly, NP_001336923.1:p.Arg189Gly, NP_001381042.1:p.Arg237Gly, NP_001381041.1:p.Arg237Gly, NP_001381037.1:p.Arg236Gly, NP_001381043.1:p.Arg238Gly, NP_001381044.1:p.Arg237Gly, XP_006724252.1:p.Arg190Gly, XP_006724256.1:p.Arg238Gly, XP_006724248.1:p.Arg238Gly, XP_005261485.1:p.Arg238Gly, XP_005261486.1:p.Arg237Gly, XP_006724250.1:p.Arg238Gly, XP_005261487.1:p.Arg238Gly, XP_006724251.1:p.Arg238Gly, XP_016884176.1:p.Arg212Gly, XP_006724255.1:p.Arg164Gly, XP_006724249.1:p.Arg237Gly, XP_016884179.1:p.Arg174Gly, XP_016884180.1:p.Arg173Gly, XP_006724254.1:p.Arg168Gly, XP_016884182.1:p.Arg168Gly, XP_024307956.1:p.Arg211Gly, XP_016884185.1:p.Arg168Gly, XP_024307959.1:p.Arg163Gly, XP_016884187.1:p.Arg167Gly, XP_047297213.1:p.Arg173Gly, XP_047297211.1:p.Arg168Gly, XP_047297208.1:p.Arg163Gly, XP_047297212.1:p.Arg167Gly, XP_047297209.1:p.Arg163Gly, XP_047297206.1:p.Arg190Gly, XP_016884175.1:p.Arg180Gly, XP_047297207.1:p.Arg190Gly, XP_047297210.1:p.Arg190Gly, XP_047297214.1:p.Arg163Gly, XP_047297215.1:p.Arg164Gly, XP_047297216.1:p.Arg163Gly

                                    18.

                                    rs1441675348 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      22:35759925 (GRCh38)
                                      22:36155972 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:35759924:G:A,NC_000022.11:35759924:G:T
                                      Gene:
                                      RBFOX2 (Varview)
                                      Functional Consequence:
                                      stop_gained,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000022.11:g.35759925G>A, NC_000022.11:g.35759925G>T, NC_000022.10:g.36155972G>A, NC_000022.10:g.36155972G>T, NG_029628.1:g.273614C>T, NG_029628.1:g.273614C>A, NM_001082578.4:c.1072C>T, NM_001082578.4:c.1072C>A, NM_001082578.3:c.1072C>T, NM_001082578.3:c.1072C>A, NM_001082578.2:c.1072C>T, NM_001082578.2:c.1072C>A, NM_001082578.1:c.1072C>T, NM_001082578.1:c.1072C>A, NM_001031695.4:c.859C>T, NM_001031695.4:c.859C>A, NM_001031695.3:c.859C>T, NM_001031695.3:c.859C>A, NM_001031695.2:c.859C>T, NM_001031695.2:c.859C>A, NM_014309.4:c.850C>T, NM_014309.4:c.850C>A, NM_014309.3:c.850C>T, NM_014309.3:c.850C>A, NM_014309.2:c.850C>T, NM_014309.2:c.850C>A, NM_001082579.3:c.1069C>T, NM_001082579.3:c.1069C>A, NM_001082579.2:c.1069C>T, NM_001082579.2:c.1069C>A, NM_001082579.1:c.1069C>T, NM_001082579.1:c.1069C>A, NM_001082576.3:c.847C>T, NM_001082576.3:c.847C>A, NM_001082576.2:c.847C>T, NM_001082576.2:c.847C>A, NM_001082576.1:c.847C>T, NM_001082576.1:c.847C>A, NM_001082577.3:c.859C>T, NM_001082577.3:c.859C>A, NM_001082577.2:c.859C>T, NM_001082577.2:c.859C>A, NM_001082577.1:c.859C>T, NM_001082577.1:c.859C>A, NM_001349999.2:c.1060C>T, NM_001349999.2:c.1060C>A, NM_001349999.1:c.1060C>T, NM_001349999.1:c.1060C>A, NM_001349998.2:c.859C>T, NM_001349998.2:c.859C>A, NM_001349998.1:c.859C>T, NM_001349998.1:c.859C>A, NM_001349983.2:c.847C>T, NM_001349983.2:c.847C>A, NM_001349983.1:c.847C>T, NM_001349983.1:c.847C>A, NM_001349997.2:c.862C>T, NM_001349997.2:c.862C>A, NM_001349997.1:c.862C>T, NM_001349997.1:c.862C>A, NM_001349991.2:c.925C>T, NM_001349991.2:c.925C>A, NM_001349991.1:c.925C>T, NM_001349991.1:c.925C>A, NM_001349982.2:c.913C>T, NM_001349982.2:c.913C>A, NM_001349982.1:c.913C>T, NM_001349982.1:c.913C>A, NM_001349989.2:c.925C>T, NM_001349989.2:c.925C>A, NM_001349989.1:c.925C>T, NM_001349989.1:c.925C>A, NM_001349996.2:c.913C>T, NM_001349996.2:c.913C>A, NM_001349996.1:c.913C>T, NM_001349996.1:c.913C>A, NM_001349990.2:c.913C>T, NM_001349990.2:c.913C>A, NM_001349990.1:c.913C>T, NM_001349990.1:c.913C>A, NM_001349992.2:c.925C>T, NM_001349992.2:c.925C>A, NM_001349992.1:c.925C>T, NM_001349992.1:c.925C>A, NM_001349994.2:c.913C>T, NM_001349994.2:c.913C>A, NM_001349994.1:c.913C>T, NM_001349994.1:c.913C>A, NM_001349995.2:c.832C>T, NM_001349995.2:c.832C>A, NM_001349995.1:c.832C>T, NM_001349995.1:c.832C>A, NM_001394113.1:c.1057C>T, NM_001394113.1:c.1057C>A, NM_001394112.1:c.1057C>T, NM_001394112.1:c.1057C>A, NM_001394108.1:c.1054C>T, NM_001394108.1:c.1054C>A, NM_001394114.1:c.1060C>T, NM_001394114.1:c.1060C>A, NM_001394115.1:c.1057C>T, NM_001394115.1:c.1057C>A, NM_001394110.1:c.964C>T, NM_001394110.1:c.964C>A, NM_001394109.1:c.964C>T, NM_001394109.1:c.964C>A, NM_001394111.1:c.964C>T, NM_001394111.1:c.964C>A, NT_187630.1:g.80923G>A, NT_187630.1:g.80923G>T, XM_006724189.4:c.928C>T, XM_006724189.4:c.928C>A, XM_006724189.3:c.928C>T, XM_006724189.3:c.928C>A, XM_006724189.2:c.928C>T, XM_006724189.2:c.928C>A, XM_006724189.1:c.928C>T, XM_006724189.1:c.928C>A, XM_006724193.4:c.1072C>T, XM_006724193.4:c.1072C>A, XM_006724193.3:c.1072C>T, XM_006724193.3:c.1072C>A, XM_006724193.2:c.1072C>T, XM_006724193.2:c.1072C>A, XM_006724193.1:c.1072C>T, XM_006724193.1:c.1072C>A, XM_006724185.3:c.1072C>T, XM_006724185.3:c.1072C>A, XM_006724185.2:c.1072C>T, XM_006724185.2:c.1072C>A, XM_006724185.1:c.1072C>T, XM_006724185.1:c.1072C>A, XM_005261428.3:c.1060C>T, XM_005261428.3:c.1060C>A, XM_005261428.2:c.1060C>T, XM_005261428.2:c.1060C>A, XM_005261428.1:c.1060C>T, XM_005261428.1:c.1060C>A, XM_005261429.3:c.1057C>T, XM_005261429.3:c.1057C>A, XM_005261429.2:c.1057C>T, XM_005261429.2:c.1057C>A, XM_005261429.1:c.1057C>T, XM_005261429.1:c.1057C>A, XM_006724187.3:c.1072C>T, XM_006724187.3:c.1072C>A, XM_006724187.2:c.1072C>T, XM_006724187.2:c.1072C>A, XM_006724187.1:c.1072C>T, XM_006724187.1:c.1072C>A, XM_005261430.3:c.1060C>T, XM_005261430.3:c.1060C>A, XM_005261430.2:c.1060C>T, XM_005261430.2:c.1060C>A, XM_005261430.1:c.1060C>T, XM_005261430.1:c.1060C>A, XM_006724188.3:c.1072C>T, XM_006724188.3:c.1072C>A, XM_006724188.2:c.1072C>T, XM_006724188.2:c.1072C>A, XM_006724188.1:c.1072C>T, XM_006724188.1:c.1072C>A, XM_017028687.3:c.994C>T, XM_017028687.3:c.994C>A, XM_017028687.2:c.994C>T, XM_017028687.2:c.994C>A, XM_017028687.1:c.994C>T, XM_017028687.1:c.994C>A, XM_006724192.3:c.850C>T, XM_006724192.3:c.850C>A, XM_006724192.2:c.850C>T, XM_006724192.2:c.850C>A, XM_006724192.1:c.850C>T, XM_006724192.1:c.850C>A, XM_006724186.3:c.1069C>T, XM_006724186.3:c.1069C>A, XM_006724186.2:c.1069C>T, XM_006724186.2:c.1069C>A, XM_006724186.1:c.1069C>T, XM_006724186.1:c.1069C>A, XM_017028690.2:c.880C>T, XM_017028690.2:c.880C>A, XM_017028690.1:c.880C>T, XM_017028690.1:c.880C>A, XM_017028691.2:c.877C>T, XM_017028691.2:c.877C>A, XM_017028691.1:c.877C>T, XM_017028691.1:c.877C>A, XM_006724191.2:c.862C>T, XM_006724191.2:c.862C>A, XM_006724191.1:c.862C>T, XM_006724191.1:c.862C>A, XM_017028693.2:c.850C>T, XM_017028693.2:c.850C>A, XM_017028693.1:c.850C>T, XM_017028693.1:c.850C>A, XM_024452188.2:c.991C>T, XM_024452188.2:c.991C>A, XM_024452188.1:c.991C>T, XM_024452188.1:c.991C>A, XM_017028696.2:c.850C>T, XM_017028696.2:c.850C>A, XM_017028696.1:c.850C>T, XM_017028696.1:c.850C>A, XM_024452191.2:c.835C>T, XM_024452191.2:c.835C>A, XM_024452191.1:c.835C>T, XM_024452191.1:c.835C>A, XM_017028698.2:c.847C>T, XM_017028698.2:c.847C>A, XM_017028698.1:c.847C>T, XM_017028698.1:c.847C>A, XM_047441257.1:c.865C>T, XM_047441257.1:c.865C>A, XM_047441255.1:c.850C>T, XM_047441255.1:c.850C>A, XM_047441252.1:c.847C>T, XM_047441252.1:c.847C>A, XM_047441256.1:c.847C>T, XM_047441256.1:c.847C>A, XM_047441253.1:c.835C>T, XM_047441253.1:c.835C>A, XM_047441250.1:c.916C>T, XM_047441250.1:c.916C>A, XM_017028686.1:c.898C>T, XM_017028686.1:c.898C>A, XM_047441251.1:c.916C>T, XM_047441251.1:c.916C>A, XM_047441254.1:c.916C>T, XM_047441254.1:c.916C>A, XM_047441258.1:c.835C>T, XM_047441258.1:c.835C>A, XM_047441259.1:c.838C>T, XM_047441259.1:c.838C>A, XM_047441260.1:c.835C>T, XM_047441260.1:c.835C>A, NP_001076047.2:p.Arg358Ter, NP_001026865.1:p.Arg287Ter, NP_055124.1:p.Arg284Ter, NP_001076048.2:p.Arg357Ter, NP_001076045.1:p.Arg283Ter, NP_001076046.1:p.Arg287Ter, NP_001336928.2:p.Arg354Ter, NP_001336927.1:p.Arg287Ter, NP_001336912.1:p.Arg283Ter, NP_001336926.1:p.Arg288Ter, NP_001336920.1:p.Arg309Ter, NP_001336911.1:p.Arg305Ter, NP_001336918.1:p.Arg309Ter, NP_001336925.1:p.Arg305Ter, NP_001336919.1:p.Arg305Ter, NP_001336921.1:p.Arg309Ter, NP_001336923.1:p.Arg305Ter, NP_001336924.1:p.Arg278Ter, NP_001381042.1:p.Arg353Ter, NP_001381041.1:p.Arg353Ter, NP_001381037.1:p.Arg352Ter, NP_001381043.1:p.Arg354Ter, NP_001381044.1:p.Arg353Ter, NP_001381039.1:p.Arg322Ter, NP_001381038.1:p.Arg322Ter, NP_001381040.1:p.Arg322Ter, XP_006724252.1:p.Arg310Ter, XP_006724256.1:p.Arg358Ter, XP_006724248.1:p.Arg358Ter, XP_005261485.1:p.Arg354Ter, XP_005261486.1:p.Arg353Ter, XP_006724250.1:p.Arg358Ter, XP_005261487.1:p.Arg354Ter, XP_006724251.1:p.Arg358Ter, XP_016884176.1:p.Arg332Ter, XP_006724255.1:p.Arg284Ter, XP_006724249.1:p.Arg357Ter, XP_016884179.1:p.Arg294Ter, XP_016884180.1:p.Arg293Ter, XP_006724254.1:p.Arg288Ter, XP_016884182.1:p.Arg284Ter, XP_024307956.1:p.Arg331Ter, XP_016884185.1:p.Arg284Ter, XP_024307959.1:p.Arg279Ter, XP_016884187.1:p.Arg283Ter, XP_047297213.1:p.Arg289Ter, XP_047297211.1:p.Arg284Ter, XP_047297208.1:p.Arg283Ter, XP_047297212.1:p.Arg283Ter, XP_047297209.1:p.Arg279Ter, XP_047297206.1:p.Arg306Ter, XP_016884175.1:p.Arg300Ter, XP_047297207.1:p.Arg306Ter, XP_047297210.1:p.Arg306Ter, XP_047297214.1:p.Arg279Ter, XP_047297215.1:p.Arg280Ter, XP_047297216.1:p.Arg279Ter

                                      19.

                                      rs1437582577 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        22:35745955 (GRCh38)
                                        22:36142002 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:35745954:C:A,NC_000022.11:35745954:C:T
                                        Gene:
                                        RBFOX2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000022.11:g.35745955C>A, NC_000022.11:g.35745955C>T, NC_000022.10:g.36142002C>A, NC_000022.10:g.36142002C>T, NG_029628.1:g.287584G>T, NG_029628.1:g.287584G>A, NM_001082578.4:c.1279G>T, NM_001082578.4:c.1279G>A, NM_001082578.3:c.1279G>T, NM_001082578.3:c.1279G>A, NM_001082578.2:c.1279G>T, NM_001082578.2:c.1279G>A, NM_001082578.1:c.1279G>T, NM_001082578.1:c.1279G>A, NM_001031695.4:c.1066G>T, NM_001031695.4:c.1066G>A, NM_001031695.3:c.1066G>T, NM_001031695.3:c.1066G>A, NM_001031695.2:c.1066G>T, NM_001031695.2:c.1066G>A, NM_014309.4:c.1017G>T, NM_014309.4:c.1017G>A, NM_014309.3:c.1017G>T, NM_014309.3:c.1017G>A, NM_014309.2:c.1017G>T, NM_014309.2:c.1017G>A, NM_001082579.3:c.1276G>T, NM_001082579.3:c.1276G>A, NM_001082579.2:c.1276G>T, NM_001082579.2:c.1276G>A, NM_001082579.1:c.1276G>T, NM_001082579.1:c.1276G>A, NM_001082576.3:c.1054G>T, NM_001082576.3:c.1054G>A, NM_001082576.2:c.1054G>T, NM_001082576.2:c.1054G>A, NM_001082576.1:c.1054G>T, NM_001082576.1:c.1054G>A, NM_001082577.3:c.1026G>T, NM_001082577.3:c.1026G>A, NM_001082577.2:c.1026G>T, NM_001082577.2:c.1026G>A, NM_001082577.1:c.1026G>T, NM_001082577.1:c.1026G>A, NM_001349999.2:c.1267G>T, NM_001349999.2:c.1267G>A, NM_001349999.1:c.1267G>T, NM_001349999.1:c.1267G>A, NM_001349998.2:c.1098G>T, NM_001349998.2:c.1098G>A, NM_001349998.1:c.1098G>T, NM_001349998.1:c.1098G>A, NM_001349983.2:c.1086G>T, NM_001349983.2:c.1086G>A, NM_001349983.1:c.1086G>T, NM_001349983.1:c.1086G>A, NM_001349997.2:c.1069G>T, NM_001349997.2:c.1069G>A, NM_001349997.1:c.1069G>T, NM_001349997.1:c.1069G>A, NM_001349991.2:c.1164G>T, NM_001349991.2:c.1164G>A, NM_001349991.1:c.1164G>T, NM_001349991.1:c.1164G>A, NM_001349982.2:c.1152G>T, NM_001349982.2:c.1152G>A, NM_001349982.1:c.1152G>T, NM_001349982.1:c.1152G>A, NM_001349989.2:c.1132G>T, NM_001349989.2:c.1132G>A, NM_001349989.1:c.1132G>T, NM_001349989.1:c.1132G>A, NM_001349996.2:c.1120G>T, NM_001349996.2:c.1120G>A, NM_001349996.1:c.1120G>T, NM_001349996.1:c.1120G>A, NM_001349990.2:c.1120G>T, NM_001349990.2:c.1120G>A, NM_001349990.1:c.1120G>T, NM_001349990.1:c.1120G>A, NM_001349992.2:c.1092G>T, NM_001349992.2:c.1092G>A, NM_001349992.1:c.1092G>T, NM_001349992.1:c.1092G>A, NM_001349994.2:c.1080G>T, NM_001349994.2:c.1080G>A, NM_001349994.1:c.1080G>T, NM_001349994.1:c.1080G>A, NM_001349995.2:c.999G>T, NM_001349995.2:c.999G>A, NM_001349995.1:c.999G>T, NM_001349995.1:c.999G>A, NM_001394113.1:c.1264G>T, NM_001394113.1:c.1264G>A, NM_001394112.1:c.1264G>T, NM_001394112.1:c.1264G>A, NM_001394108.1:c.1261G>T, NM_001394108.1:c.1261G>A, NM_001394114.1:c.1227G>T, NM_001394114.1:c.1227G>A, NM_001394115.1:c.1224G>T, NM_001394115.1:c.1224G>A, NM_001394110.1:c.1171G>T, NM_001394110.1:c.1171G>A, NM_001394109.1:c.1171G>T, NM_001394109.1:c.1171G>A, NM_001394111.1:c.1131G>T, NM_001394111.1:c.1131G>A, NT_187630.1:g.66953C>A, NT_187630.1:g.66953C>T, XM_006724189.4:c.1167G>T, XM_006724189.4:c.1167G>A, XM_006724189.3:c.1167G>T, XM_006724189.3:c.1167G>A, XM_006724189.2:c.1167G>T, XM_006724189.2:c.1167G>A, XM_006724189.1:c.1167G>T, XM_006724189.1:c.1167G>A, XM_006724185.3:c.1311G>T, XM_006724185.3:c.1311G>A, XM_006724185.2:c.1311G>T, XM_006724185.2:c.1311G>A, XM_006724185.1:c.1311G>T, XM_006724185.1:c.1311G>A, XM_006724186.3:c.1308G>T, XM_006724186.3:c.1308G>A, XM_006724186.2:c.1308G>T, XM_006724186.2:c.1308G>A, XM_006724186.1:c.1308G>T, XM_006724186.1:c.1308G>A, XM_005261428.3:c.1299G>T, XM_005261428.3:c.1299G>A, XM_005261428.2:c.1299G>T, XM_005261428.2:c.1299G>A, XM_005261428.1:c.1299G>T, XM_005261428.1:c.1299G>A, XM_005261429.3:c.1296G>T, XM_005261429.3:c.1296G>A, XM_005261429.2:c.1296G>T, XM_005261429.2:c.1296G>A, XM_005261429.1:c.1296G>T, XM_005261429.1:c.1296G>A, XM_006724187.3:c.1282G>T, XM_006724187.3:c.1282G>A, XM_006724187.2:c.1282G>T, XM_006724187.2:c.1282G>A, XM_006724187.1:c.1282G>T, XM_006724187.1:c.1282G>A, XM_005261430.3:c.1270G>T, XM_005261430.3:c.1270G>A, XM_005261430.2:c.1270G>T, XM_005261430.2:c.1270G>A, XM_005261430.1:c.1270G>T, XM_005261430.1:c.1270G>A, XM_006724188.3:c.1239G>T, XM_006724188.3:c.1239G>A, XM_006724188.2:c.1239G>T, XM_006724188.2:c.1239G>A, XM_006724188.1:c.1239G>T, XM_006724188.1:c.1239G>A, XM_017028687.3:c.1233G>T, XM_017028687.3:c.1233G>A, XM_017028687.2:c.1233G>T, XM_017028687.2:c.1233G>A, XM_017028687.1:c.1233G>T, XM_017028687.1:c.1233G>A, XM_006724192.3:c.1089G>T, XM_006724192.3:c.1089G>A, XM_006724192.2:c.1089G>T, XM_006724192.2:c.1089G>A, XM_006724192.1:c.1089G>T, XM_006724192.1:c.1089G>A, XM_017028690.2:c.1119G>T, XM_017028690.2:c.1119G>A, XM_017028690.1:c.1119G>T, XM_017028690.1:c.1119G>A, XM_017028691.2:c.1116G>T, XM_017028691.2:c.1116G>A, XM_017028691.1:c.1116G>T, XM_017028691.1:c.1116G>A, XM_006724191.2:c.1101G>T, XM_006724191.2:c.1101G>A, XM_006724191.1:c.1101G>T, XM_006724191.1:c.1101G>A, XM_017028693.2:c.1089G>T, XM_017028693.2:c.1089G>A, XM_017028693.1:c.1089G>T, XM_017028693.1:c.1089G>A, XM_017028696.2:c.1057G>T, XM_017028696.2:c.1057G>A, XM_017028696.1:c.1057G>T, XM_017028696.1:c.1057G>A, XM_024452191.2:c.1042G>T, XM_024452191.2:c.1042G>A, XM_024452191.1:c.1042G>T, XM_024452191.1:c.1042G>A, XM_017028698.2:c.1014G>T, XM_017028698.2:c.1014G>A, XM_017028698.1:c.1014G>T, XM_017028698.1:c.1014G>A, XM_024452188.2:c.1230G>T, XM_024452188.2:c.1230G>A, XM_024452188.1:c.1230G>T, XM_024452188.1:c.1230G>A, XM_047441252.1:c.1086G>T, XM_047441252.1:c.1086G>A, XM_047441256.1:c.1057G>T, XM_047441256.1:c.1057G>A, XM_047441253.1:c.1074G>T, XM_047441253.1:c.1074G>A, XM_047441258.1:c.1045G>T, XM_047441258.1:c.1045G>A, XM_047441250.1:c.1155G>T, XM_047441250.1:c.1155G>A, XM_017028686.1:c.1137G>T, XM_017028686.1:c.1137G>A, XM_047441254.1:c.1083G>T, XM_047441254.1:c.1083G>A, XM_047441257.1:c.1075G>T, XM_047441257.1:c.1075G>A, XM_047441255.1:c.1060G>T, XM_047441255.1:c.1060G>A, XM_047441260.1:c.1002G>T, XM_047441260.1:c.1002G>A, XM_047441251.1:c.1123G>T, XM_047441251.1:c.1123G>A, XM_047441259.1:c.1005G>T, XM_047441259.1:c.1005G>A, NP_001076047.2:p.Ala427Ser, NP_001076047.2:p.Ala427Thr, NP_001026865.1:p.Ala356Ser, NP_001026865.1:p.Ala356Thr, NP_055124.1:p.Leu339Phe, NP_001076048.2:p.Ala426Ser, NP_001076048.2:p.Ala426Thr, NP_001076045.1:p.Ala352Ser, NP_001076045.1:p.Ala352Thr, NP_001076046.1:p.Leu342Phe, NP_001336928.2:p.Ala423Ser, NP_001336928.2:p.Ala423Thr, NP_001336927.1:p.Leu366Phe, NP_001336912.1:p.Leu362Phe, NP_001336926.1:p.Ala357Ser, NP_001336926.1:p.Ala357Thr, NP_001336920.1:p.Leu388Phe, NP_001336911.1:p.Leu384Phe, NP_001336918.1:p.Ala378Ser, NP_001336918.1:p.Ala378Thr, NP_001336925.1:p.Ala374Ser, NP_001336925.1:p.Ala374Thr, NP_001336919.1:p.Ala374Ser, NP_001336919.1:p.Ala374Thr, NP_001336921.1:p.Leu364Phe, NP_001336923.1:p.Leu360Phe, NP_001336924.1:p.Leu333Phe, NP_001381042.1:p.Ala422Ser, NP_001381042.1:p.Ala422Thr, NP_001381041.1:p.Ala422Ser, NP_001381041.1:p.Ala422Thr, NP_001381037.1:p.Ala421Ser, NP_001381037.1:p.Ala421Thr, NP_001381043.1:p.Leu409Phe, NP_001381044.1:p.Leu408Phe, NP_001381039.1:p.Ala391Ser, NP_001381039.1:p.Ala391Thr, NP_001381038.1:p.Ala391Ser, NP_001381038.1:p.Ala391Thr, NP_001381040.1:p.Leu377Phe, XP_006724252.1:p.Leu389Phe, XP_006724248.1:p.Leu437Phe, XP_006724249.1:p.Leu436Phe, XP_005261485.1:p.Leu433Phe, XP_005261486.1:p.Leu432Phe, XP_006724250.1:p.Ala428Ser, XP_006724250.1:p.Ala428Thr, XP_005261487.1:p.Ala424Ser, XP_005261487.1:p.Ala424Thr, XP_006724251.1:p.Leu413Phe, XP_016884176.1:p.Leu411Phe, XP_006724255.1:p.Leu363Phe, XP_016884179.1:p.Leu373Phe, XP_016884180.1:p.Leu372Phe, XP_006724254.1:p.Leu367Phe, XP_016884182.1:p.Leu363Phe, XP_016884185.1:p.Ala353Ser, XP_016884185.1:p.Ala353Thr, XP_024307959.1:p.Ala348Ser, XP_024307959.1:p.Ala348Thr, XP_016884187.1:p.Leu338Phe, XP_024307956.1:p.Leu410Phe, XP_047297208.1:p.Leu362Phe, XP_047297212.1:p.Ala353Ser, XP_047297212.1:p.Ala353Thr, XP_047297209.1:p.Leu358Phe, XP_047297214.1:p.Ala349Ser, XP_047297214.1:p.Ala349Thr, XP_047297206.1:p.Leu385Phe, XP_016884175.1:p.Leu379Phe, XP_047297210.1:p.Leu361Phe, XP_047297213.1:p.Ala359Ser, XP_047297213.1:p.Ala359Thr, XP_047297211.1:p.Ala354Ser, XP_047297211.1:p.Ala354Thr, XP_047297216.1:p.Leu334Phe, XP_047297207.1:p.Ala375Ser, XP_047297207.1:p.Ala375Thr, XP_047297215.1:p.Leu335Phe

                                        20.

                                        rs1429129191 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          22:35809877 (GRCh38)
                                          22:36205924 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:35809876:C:A
                                          Gene:
                                          RBFOX2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000022.11:g.35809877C>A, NC_000022.10:g.36205924C>A, NG_029628.1:g.223662G>T, NM_001082578.4:c.365G>T, NM_001082578.3:c.365G>T, NM_001082578.2:c.365G>T, NM_001082578.1:c.365G>T, NM_001031695.4:c.155G>T, NM_001031695.3:c.155G>T, NM_001031695.2:c.155G>T, NM_014309.4:c.155G>T, NM_014309.3:c.155G>T, NM_014309.2:c.155G>T, NM_001082579.3:c.365G>T, NM_001082579.2:c.365G>T, NM_001082579.1:c.365G>T, NM_001082576.3:c.155G>T, NM_001082576.2:c.155G>T, NM_001082576.1:c.155G>T, NM_001082577.3:c.155G>T, NM_001082577.2:c.155G>T, NM_001082577.1:c.155G>T, NM_001349999.2:c.365G>T, NM_001349999.1:c.365G>T, NM_001349998.2:c.155G>T, NM_001349998.1:c.155G>T, NM_001349983.2:c.155G>T, NM_001349983.1:c.155G>T, NM_001349997.2:c.155G>T, NM_001349997.1:c.155G>T, NM_001349991.2:c.221G>T, NM_001349991.1:c.221G>T, NM_001349982.2:c.221G>T, NM_001349982.1:c.221G>T, NM_001349989.2:c.221G>T, NM_001349989.1:c.221G>T, NM_001349996.2:c.221G>T, NM_001349996.1:c.221G>T, NM_001349990.2:c.221G>T, NM_001349990.1:c.221G>T, NM_001349992.2:c.221G>T, NM_001349992.1:c.221G>T, NM_001349994.2:c.221G>T, NM_001349994.1:c.221G>T, NM_001349995.2:c.221G>T, NM_001349995.1:c.221G>T, NM_001394113.1:c.365G>T, NM_001394112.1:c.365G>T, NM_001394108.1:c.365G>T, NM_001394114.1:c.365G>T, NM_001394115.1:c.365G>T, NM_001394110.1:c.365G>T, NM_001394109.1:c.365G>T, NM_001394111.1:c.365G>T, NT_187630.1:g.130875C>A, XM_006724189.4:c.221G>T, XM_006724189.3:c.221G>T, XM_006724189.2:c.221G>T, XM_006724189.1:c.221G>T, XM_006724193.4:c.365G>T, XM_006724193.3:c.365G>T, XM_006724193.2:c.365G>T, XM_006724193.1:c.365G>T, XM_006724185.3:c.365G>T, XM_006724185.2:c.365G>T, XM_006724185.1:c.365G>T, XM_005261428.3:c.365G>T, XM_005261428.2:c.365G>T, XM_005261428.1:c.365G>T, XM_005261429.3:c.365G>T, XM_005261429.2:c.365G>T, XM_005261429.1:c.365G>T, XM_006724187.3:c.365G>T, XM_006724187.2:c.365G>T, XM_006724187.1:c.365G>T, XM_005261430.3:c.365G>T, XM_005261430.2:c.365G>T, XM_005261430.1:c.365G>T, XM_006724188.3:c.365G>T, XM_006724188.2:c.365G>T, XM_006724188.1:c.365G>T, XM_017028687.3:c.287G>T, XM_017028687.2:c.287G>T, XM_017028687.1:c.287G>T, XM_006724192.3:c.143G>T, XM_006724192.2:c.143G>T, XM_006724192.1:c.143G>T, XM_006724186.3:c.365G>T, XM_006724186.2:c.365G>T, XM_006724186.1:c.365G>T, XM_017028690.2:c.173G>T, XM_017028690.1:c.173G>T, XM_017028691.2:c.173G>T, XM_017028691.1:c.173G>T, XM_006724191.2:c.155G>T, XM_006724191.1:c.155G>T, XM_017028693.2:c.155G>T, XM_017028693.1:c.155G>T, XM_024452188.2:c.287G>T, XM_024452188.1:c.287G>T, XM_017028696.2:c.155G>T, XM_017028696.1:c.155G>T, XM_024452191.2:c.143G>T, XM_024452191.1:c.143G>T, XM_017028698.2:c.155G>T, XM_017028698.1:c.155G>T, XM_047441257.1:c.173G>T, XM_047441255.1:c.155G>T, XM_047441252.1:c.143G>T, XM_047441256.1:c.155G>T, XM_047441253.1:c.143G>T, XM_047441250.1:c.221G>T, XM_017028686.1:c.191G>T, XM_047441251.1:c.221G>T, XM_047441254.1:c.221G>T, XM_047441258.1:c.143G>T, XM_047441259.1:c.143G>T, XM_047441260.1:c.143G>T, NP_001076047.2:p.Gly122Val, NP_001026865.1:p.Gly52Val, NP_055124.1:p.Gly52Val, NP_001076048.2:p.Gly122Val, NP_001076045.1:p.Gly52Val, NP_001076046.1:p.Gly52Val, NP_001336928.2:p.Gly122Val, NP_001336927.1:p.Gly52Val, NP_001336912.1:p.Gly52Val, NP_001336926.1:p.Gly52Val, NP_001336920.1:p.Gly74Val, NP_001336911.1:p.Gly74Val, NP_001336918.1:p.Gly74Val, NP_001336925.1:p.Gly74Val, NP_001336919.1:p.Gly74Val, NP_001336921.1:p.Gly74Val, NP_001336923.1:p.Gly74Val, NP_001336924.1:p.Gly74Val, NP_001381042.1:p.Gly122Val, NP_001381041.1:p.Gly122Val, NP_001381037.1:p.Gly122Val, NP_001381043.1:p.Gly122Val, NP_001381044.1:p.Gly122Val, NP_001381039.1:p.Gly122Val, NP_001381038.1:p.Gly122Val, NP_001381040.1:p.Gly122Val, XP_006724252.1:p.Gly74Val, XP_006724256.1:p.Gly122Val, XP_006724248.1:p.Gly122Val, XP_005261485.1:p.Gly122Val, XP_005261486.1:p.Gly122Val, XP_006724250.1:p.Gly122Val, XP_005261487.1:p.Gly122Val, XP_006724251.1:p.Gly122Val, XP_016884176.1:p.Gly96Val, XP_006724255.1:p.Gly48Val, XP_006724249.1:p.Gly122Val, XP_016884179.1:p.Gly58Val, XP_016884180.1:p.Gly58Val, XP_006724254.1:p.Gly52Val, XP_016884182.1:p.Gly52Val, XP_024307956.1:p.Gly96Val, XP_016884185.1:p.Gly52Val, XP_024307959.1:p.Gly48Val, XP_016884187.1:p.Gly52Val, XP_047297213.1:p.Gly58Val, XP_047297211.1:p.Gly52Val, XP_047297208.1:p.Gly48Val, XP_047297212.1:p.Gly52Val, XP_047297209.1:p.Gly48Val, XP_047297206.1:p.Gly74Val, XP_016884175.1:p.Gly64Val, XP_047297207.1:p.Gly74Val, XP_047297210.1:p.Gly74Val, XP_047297214.1:p.Gly48Val, XP_047297215.1:p.Gly48Val, XP_047297216.1:p.Gly48Val

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