SNP Links for Protein (Select 767994053) - SNP

Links from Protein

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Select item 14908543541.

rs1490854354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:67912864 (GRCh38)
17:65908980 (GRCh37)
Canonical SPDI:: NC_000017.11:67912863:A:G
Gene:: BPTF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.67912864A>G, NC_000017.10:g.65908980A>G, NG_052828.1:g.92348A>G, NM_004459.7:c.5358A>G, NM_004459.6:c.5358A>G, NM_182641.4:c.4980A>G, NM_182641.3:c.4980A>G, XM_011524524.4:c.2448A>G, XM_011524524.3:c.2448A>G, XM_011524524.2:c.2448A>G, XM_011524524.1:c.2448A>G, XM_005257150.4:c.5358A>G, XM_005257150.3:c.5358A>G, XM_005257150.2:c.5358A>G, XM_005257150.1:c.5358A>G, XM_005257151.4:c.5355A>G, XM_005257151.3:c.5355A>G, XM_005257151.2:c.5355A>G, XM_005257151.1:c.5355A>G, XM_005257153.4:c.5358A>G, XM_005257153.3:c.5358A>G, XM_005257153.2:c.5358A>G, XM_005257153.1:c.5358A>G, XM_005257154.4:c.5358A>G, XM_005257154.3:c.5358A>G, XM_005257154.2:c.5358A>G, XM_005257154.1:c.5358A>G, XM_005257156.4:c.5169A>G, XM_005257156.3:c.5169A>G, XM_005257156.2:c.5169A>G, XM_005257156.1:c.5169A>G, XM_005257155.4:c.5169A>G, XM_005257155.3:c.5169A>G, XM_005257155.2:c.5169A>G, XM_005257155.1:c.5169A>G, XM_005257157.4:c.5166A>G, XM_005257157.3:c.5166A>G, XM_005257157.2:c.5166A>G, XM_005257157.1:c.5166A>G, XM_005257158.4:c.4980A>G, XM_005257158.3:c.4980A>G, XM_005257158.2:c.4980A>G, XM_005257158.1:c.4980A>G, XM_005257161.4:c.5358A>G, XM_005257161.3:c.5358A>G, XM_005257161.2:c.5358A>G, XM_005257161.1:c.5358A>G, XM_005257152.4:c.5358A>G, XM_005257152.3:c.5358A>G, XM_005257152.2:c.5358A>G, XM_005257152.1:c.5358A>G, XM_017024354.3:c.2865A>G, XM_017024354.2:c.2865A>G, XM_017024354.1:c.2865A>G, XM_011524520.3:c.5355A>G, XM_011524520.2:c.5355A>G, XM_011524520.1:c.5355A>G, XM_011524522.3:c.4977A>G, XM_011524522.2:c.4977A>G, XM_011524522.1:c.4977A>G, XM_005257159.3:c.5358A>G, XM_005257159.2:c.5358A>G, XM_005257159.1:c.5358A>G, XM_011524523.3:c.4977A>G, XM_011524523.2:c.4977A>G, XM_011524523.1:c.4977A>G, XM_017024353.3:c.5358A>G, XM_017024353.2:c.5358A>G, XM_017024353.1:c.5358A>G, XM_005257160.3:c.5358A>G, XM_005257160.2:c.5358A>G, XM_005257160.1:c.5358A>G, XM_011524525.3:c.4977A>G, XM_011524525.2:c.4977A>G, XM_011524525.1:c.4977A>G, XM_011524526.3:c.4977A>G, XM_011524526.2:c.4977A>G, XM_011524526.1:c.4977A>G, XM_024450646.2:c.5166A>G, XM_024450646.1:c.5166A>G, XM_024450647.2:c.5358A>G, XM_024450647.1:c.5358A>G, XM_047435620.1:c.2448A>G, XM_047435621.1:c.2448A>G, XM_047435597.1:c.5358A>G, XM_047435599.1:c.5169A>G, XM_047435598.1:c.5169A>G, XM_047435600.1:c.5166A>G, XM_047435603.1:c.5169A>G, XM_047435602.1:c.5169A>G, XM_047435604.1:c.4980A>G, XM_047435605.1:c.5169A>G, XM_047435601.1:c.5358A>G, XM_047435610.1:c.5169A>G, XM_047435609.1:c.5169A>G, XM_047435611.1:c.5166A>G, XM_047435613.1:c.4980A>G, XM_047435614.1:c.5169A>G, XM_047435615.1:c.4980A>G, XM_047435616.1:c.4977A>G, XM_047435607.1:c.5358A>G, XM_047435608.1:c.4980A>G, XM_047435617.1:c.4980A>G, XM_047435612.1:c.5358A>G, XM_047435596.1:c.5358A>G, XM_047435606.1:c.5358A>G, XM_047435618.1:c.5358A>G, XM_047435619.1:c.5358A>G

Select item 14904422862.

rs1490442286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:67911388 (GRCh38)
17:65907504 (GRCh37)
Canonical SPDI:: NC_000017.11:67911387:T:C
Gene:: BPTF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.67911388T>C, NC_000017.10:g.65907504T>C, NG_052828.1:g.90872T>C, NM_004459.7:c.3882T>C, NM_004459.6:c.3882T>C, NM_182641.4:c.3504T>C, NM_182641.3:c.3504T>C, XM_011524524.4:c.972T>C, XM_011524524.3:c.972T>C, XM_011524524.2:c.972T>C, XM_011524524.1:c.972T>C, XM_005257150.4:c.3882T>C, XM_005257150.3:c.3882T>C, XM_005257150.2:c.3882T>C, XM_005257150.1:c.3882T>C, XM_005257151.4:c.3879T>C, XM_005257151.3:c.3879T>C, XM_005257151.2:c.3879T>C, XM_005257151.1:c.3879T>C, XM_005257153.4:c.3882T>C, XM_005257153.3:c.3882T>C, XM_005257153.2:c.3882T>C, XM_005257153.1:c.3882T>C, XM_005257154.4:c.3882T>C, XM_005257154.3:c.3882T>C, XM_005257154.2:c.3882T>C, XM_005257154.1:c.3882T>C, XM_005257156.4:c.3693T>C, XM_005257156.3:c.3693T>C, XM_005257156.2:c.3693T>C, XM_005257156.1:c.3693T>C, XM_005257155.4:c.3693T>C, XM_005257155.3:c.3693T>C, XM_005257155.2:c.3693T>C, XM_005257155.1:c.3693T>C, XM_005257157.4:c.3690T>C, XM_005257157.3:c.3690T>C, XM_005257157.2:c.3690T>C, XM_005257157.1:c.3690T>C, XM_005257158.4:c.3504T>C, XM_005257158.3:c.3504T>C, XM_005257158.2:c.3504T>C, XM_005257158.1:c.3504T>C, XM_005257161.4:c.3882T>C, XM_005257161.3:c.3882T>C, XM_005257161.2:c.3882T>C, XM_005257161.1:c.3882T>C, XM_005257152.4:c.3882T>C, XM_005257152.3:c.3882T>C, XM_005257152.2:c.3882T>C, XM_005257152.1:c.3882T>C, XM_017024354.3:c.1389T>C, XM_017024354.2:c.1389T>C, XM_017024354.1:c.1389T>C, XM_011524520.3:c.3879T>C, XM_011524520.2:c.3879T>C, XM_011524520.1:c.3879T>C, XM_011524522.3:c.3501T>C, XM_011524522.2:c.3501T>C, XM_011524522.1:c.3501T>C, XM_005257159.3:c.3882T>C, XM_005257159.2:c.3882T>C, XM_005257159.1:c.3882T>C, XM_011524523.3:c.3501T>C, XM_011524523.2:c.3501T>C, XM_011524523.1:c.3501T>C, XM_017024353.3:c.3882T>C, XM_017024353.2:c.3882T>C, XM_017024353.1:c.3882T>C, XM_005257160.3:c.3882T>C, XM_005257160.2:c.3882T>C, XM_005257160.1:c.3882T>C, XM_011524525.3:c.3501T>C, XM_011524525.2:c.3501T>C, XM_011524525.1:c.3501T>C, XM_011524526.3:c.3501T>C, XM_011524526.2:c.3501T>C, XM_011524526.1:c.3501T>C, XM_024450646.2:c.3690T>C, XM_024450646.1:c.3690T>C, XM_024450647.2:c.3882T>C, XM_024450647.1:c.3882T>C, XM_047435620.1:c.972T>C, XM_047435621.1:c.972T>C, XM_047435597.1:c.3882T>C, XM_047435599.1:c.3693T>C, XM_047435598.1:c.3693T>C, XM_047435600.1:c.3690T>C, XM_047435603.1:c.3693T>C, XM_047435602.1:c.3693T>C, XM_047435604.1:c.3504T>C, XM_047435605.1:c.3693T>C, XM_047435601.1:c.3882T>C, XM_047435610.1:c.3693T>C, XM_047435609.1:c.3693T>C, XM_047435611.1:c.3690T>C, XM_047435613.1:c.3504T>C, XM_047435614.1:c.3693T>C, XM_047435615.1:c.3504T>C, XM_047435616.1:c.3501T>C, XM_047435607.1:c.3882T>C, XM_047435608.1:c.3504T>C, XM_047435617.1:c.3504T>C, XM_047435612.1:c.3882T>C, XM_047435596.1:c.3882T>C, XM_047435606.1:c.3882T>C, XM_047435618.1:c.3882T>C, XM_047435619.1:c.3882T>C

Select item 14903120973.

rs1490312097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67964393 (GRCh38)
17:65960509 (GRCh37)
Canonical SPDI:: NC_000017.11:67964392:C:T
Gene:: BPTF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.67964393C>T, NC_000017.10:g.65960509C>T, NG_052828.1:g.143877C>T, NM_004459.7:c.8392C>T, NM_004459.6:c.8392C>T, NM_182641.4:c.8443C>T, NM_182641.3:c.8443C>T, NW_003871088.1:g.24404C>T, XM_011524524.4:c.6247C>T, XM_011524524.3:c.6247C>T, XM_011524524.2:c.6247C>T, XM_011524524.1:c.6247C>T, XM_005257150.4:c.9157C>T, XM_005257150.3:c.9157C>T, XM_005257150.2:c.9157C>T, XM_005257150.1:c.9157C>T, XM_005257151.4:c.9154C>T, XM_005257151.3:c.9154C>T, XM_005257151.2:c.9154C>T, XM_005257151.1:c.9154C>T, XM_005257153.4:c.8995C>T, XM_005257153.3:c.8995C>T, XM_005257153.2:c.8995C>T, XM_005257153.1:c.8995C>T, XM_005257154.4:c.8983C>T, XM_005257154.3:c.8983C>T, XM_005257154.2:c.8983C>T, XM_005257154.1:c.8983C>T, XM_005257156.4:c.8968C>T, XM_005257156.3:c.8968C>T, XM_005257156.2:c.8968C>T, XM_005257156.1:c.8968C>T, XM_005257155.4:c.8968C>T, XM_005257155.3:c.8968C>T, XM_005257155.2:c.8968C>T, XM_005257155.1:c.8968C>T, XM_005257157.4:c.8965C>T, XM_005257157.3:c.8965C>T, XM_005257157.2:c.8965C>T, XM_005257157.1:c.8965C>T, XM_005257158.4:c.8779C>T, XM_005257158.3:c.8779C>T, XM_005257158.2:c.8779C>T, XM_005257158.1:c.8779C>T, XM_005257161.4:c.8554C>T, XM_005257161.3:c.8554C>T, XM_005257161.2:c.8554C>T, XM_005257161.1:c.8554C>T, XM_005257152.4:c.9157C>T, XM_005257152.3:c.9157C>T, XM_005257152.2:c.9157C>T, XM_005257152.1:c.9157C>T, XM_017024354.3:c.6664C>T, XM_017024354.2:c.6664C>T, XM_017024354.1:c.6664C>T, XM_011524520.3:c.9154C>T, XM_011524520.2:c.9154C>T, XM_011524520.1:c.9154C>T, XM_011524522.3:c.8776C>T, XM_011524522.2:c.8776C>T, XM_011524522.1:c.8776C>T, XM_005257159.3:c.8728C>T, XM_005257159.2:c.8728C>T, XM_005257159.1:c.8728C>T, XM_011524523.3:c.8614C>T, XM_011524523.2:c.8614C>T, XM_011524523.1:c.8614C>T, XM_017024353.3:c.8983C>T, XM_017024353.2:c.8983C>T, XM_017024353.1:c.8983C>T, XM_005257160.3:c.8566C>T, XM_005257160.2:c.8566C>T, XM_005257160.1:c.8566C>T, XM_011524525.3:c.8440C>T, XM_011524525.2:c.8440C>T, XM_011524525.1:c.8440C>T, XM_011524526.3:c.8011C>T, XM_011524526.2:c.8011C>T, XM_011524526.1:c.8011C>T, XM_024450646.2:c.8965C>T, XM_024450646.1:c.8965C>T, XM_024450647.2:c.8728C>T, XM_024450647.1:c.8728C>T, XM_047435620.1:c.5911C>T, XM_047435621.1:c.5656C>T, XM_047435597.1:c.8821C>T, XM_047435599.1:c.8806C>T, XM_047435598.1:c.8806C>T, XM_047435600.1:c.8803C>T, XM_047435603.1:c.8632C>T, XM_047435602.1:c.8632C>T, XM_047435604.1:c.8617C>T, XM_047435605.1:c.8539C>T, XM_047435601.1:c.8821C>T, XM_047435610.1:c.8377C>T, XM_047435609.1:c.8377C>T, XM_047435611.1:c.8374C>T, XM_047435613.1:c.8350C>T, XM_047435614.1:c.8203C>T, XM_047435615.1:c.8188C>T, XM_047435616.1:c.8185C>T, XM_047435607.1:c.8554C>T, XM_047435608.1:c.8443C>T, XM_047435617.1:c.8014C>T, XM_047435612.1:c.8392C>T, XM_047435596.1:c.8995C>T, XM_047435606.1:c.8566C>T, NP_004450.3:p.Arg2798Cys, NP_872579.2:p.Arg2815Cys, XP_011522826.1:p.Arg2083Cys, XP_005257207.1:p.Arg3053Cys, XP_005257208.1:p.Arg3052Cys, XP_005257210.1:p.Arg2999Cys, XP_005257211.1:p.Arg2995Cys, XP_005257213.1:p.Arg2990Cys, XP_005257212.1:p.Arg2990Cys, XP_005257214.1:p.Arg2989Cys, XP_005257215.1:p.Arg2927Cys, XP_005257218.1:p.Arg2852Cys, XP_005257209.1:p.Arg3053Cys, XP_016879843.1:p.Arg2222Cys, XP_011522822.1:p.Arg3052Cys, XP_011522824.1:p.Arg2926Cys, XP_005257216.1:p.Arg2910Cys, XP_011522825.1:p.Arg2872Cys, XP_016879842.1:p.Arg2995Cys, XP_005257217.1:p.Arg2856Cys, XP_011522827.1:p.Arg2814Cys, XP_011522828.1:p.Arg2671Cys, XP_024306414.1:p.Arg2989Cys, XP_024306415.1:p.Arg2910Cys, XP_047291576.1:p.Arg1971Cys, XP_047291577.1:p.Arg1886Cys, XP_047291553.1:p.Arg2941Cys, XP_047291555.1:p.Arg2936Cys, XP_047291554.1:p.Arg2936Cys, XP_047291556.1:p.Arg2935Cys, XP_047291559.1:p.Arg2878Cys, XP_047291558.1:p.Arg2878Cys, XP_047291560.1:p.Arg2873Cys, XP_047291561.1:p.Arg2847Cys, XP_047291557.1:p.Arg2941Cys, XP_047291566.1:p.Arg2793Cys, XP_047291565.1:p.Arg2793Cys, XP_047291567.1:p.Arg2792Cys, XP_047291569.1:p.Arg2784Cys, XP_047291570.1:p.Arg2735Cys, XP_047291571.1:p.Arg2730Cys, XP_047291572.1:p.Arg2729Cys, XP_047291563.1:p.Arg2852Cys, XP_047291564.1:p.Arg2815Cys, XP_047291573.1:p.Arg2672Cys, XP_047291568.1:p.Arg2798Cys, XP_047291552.1:p.Arg2999Cys, XP_047291562.1:p.Arg2856Cys

Select item 14901555104.

rs1490155510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:67911477 (GRCh38)
17:65907593 (GRCh37)
Canonical SPDI:: NC_000017.11:67911476:G:A,NC_000017.11:67911476:G:T
Gene:: BPTF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.67911477G>A, NC_000017.11:g.67911477G>T, NC_000017.10:g.65907593G>A, NC_000017.10:g.65907593G>T, NG_052828.1:g.90961G>A, NG_052828.1:g.90961G>T, NM_004459.7:c.3971G>A, NM_004459.7:c.3971G>T, NM_004459.6:c.3971G>A, NM_004459.6:c.3971G>T, NM_182641.4:c.3593G>A, NM_182641.4:c.3593G>T, NM_182641.3:c.3593G>A, NM_182641.3:c.3593G>T, XM_011524524.4:c.1061G>A, XM_011524524.4:c.1061G>T, XM_011524524.3:c.1061G>A, XM_011524524.3:c.1061G>T, XM_011524524.2:c.1061G>A, XM_011524524.2:c.1061G>T, XM_011524524.1:c.1061G>A, XM_011524524.1:c.1061G>T, XM_005257150.4:c.3971G>A, XM_005257150.4:c.3971G>T, XM_005257150.3:c.3971G>A, XM_005257150.3:c.3971G>T, XM_005257150.2:c.3971G>A, XM_005257150.2:c.3971G>T, XM_005257150.1:c.3971G>A, XM_005257150.1:c.3971G>T, XM_005257151.4:c.3968G>A, XM_005257151.4:c.3968G>T, XM_005257151.3:c.3968G>A, XM_005257151.3:c.3968G>T, XM_005257151.2:c.3968G>A, XM_005257151.2:c.3968G>T, XM_005257151.1:c.3968G>A, XM_005257151.1:c.3968G>T, XM_005257153.4:c.3971G>A, XM_005257153.4:c.3971G>T, XM_005257153.3:c.3971G>A, XM_005257153.3:c.3971G>T, XM_005257153.2:c.3971G>A, XM_005257153.2:c.3971G>T, XM_005257153.1:c.3971G>A, XM_005257153.1:c.3971G>T, XM_005257154.4:c.3971G>A, XM_005257154.4:c.3971G>T, XM_005257154.3:c.3971G>A, XM_005257154.3:c.3971G>T, XM_005257154.2:c.3971G>A, XM_005257154.2:c.3971G>T, XM_005257154.1:c.3971G>A, XM_005257154.1:c.3971G>T, XM_005257156.4:c.3782G>A, XM_005257156.4:c.3782G>T, XM_005257156.3:c.3782G>A, XM_005257156.3:c.3782G>T, XM_005257156.2:c.3782G>A, XM_005257156.2:c.3782G>T, XM_005257156.1:c.3782G>A, XM_005257156.1:c.3782G>T, XM_005257155.4:c.3782G>A, XM_005257155.4:c.3782G>T, XM_005257155.3:c.3782G>A, XM_005257155.3:c.3782G>T, XM_005257155.2:c.3782G>A, XM_005257155.2:c.3782G>T, XM_005257155.1:c.3782G>A, XM_005257155.1:c.3782G>T, XM_005257157.4:c.3779G>A, XM_005257157.4:c.3779G>T, XM_005257157.3:c.3779G>A, XM_005257157.3:c.3779G>T, XM_005257157.2:c.3779G>A, XM_005257157.2:c.3779G>T, XM_005257157.1:c.3779G>A, XM_005257157.1:c.3779G>T, XM_005257158.4:c.3593G>A, XM_005257158.4:c.3593G>T, XM_005257158.3:c.3593G>A, XM_005257158.3:c.3593G>T, XM_005257158.2:c.3593G>A, XM_005257158.2:c.3593G>T, XM_005257158.1:c.3593G>A, XM_005257158.1:c.3593G>T, XM_005257161.4:c.3971G>A, XM_005257161.4:c.3971G>T, XM_005257161.3:c.3971G>A, XM_005257161.3:c.3971G>T, XM_005257161.2:c.3971G>A, XM_005257161.2:c.3971G>T, XM_005257161.1:c.3971G>A, XM_005257161.1:c.3971G>T, XM_005257152.4:c.3971G>A, XM_005257152.4:c.3971G>T, XM_005257152.3:c.3971G>A, XM_005257152.3:c.3971G>T, XM_005257152.2:c.3971G>A, XM_005257152.2:c.3971G>T, XM_005257152.1:c.3971G>A, XM_005257152.1:c.3971G>T, XM_017024354.3:c.1478G>A, XM_017024354.3:c.1478G>T, XM_017024354.2:c.1478G>A, XM_017024354.2:c.1478G>T, XM_017024354.1:c.1478G>A, XM_017024354.1:c.1478G>T, XM_011524520.3:c.3968G>A, XM_011524520.3:c.3968G>T, XM_011524520.2:c.3968G>A, XM_011524520.2:c.3968G>T, XM_011524520.1:c.3968G>A, XM_011524520.1:c.3968G>T, XM_011524522.3:c.3590G>A, XM_011524522.3:c.3590G>T, XM_011524522.2:c.3590G>A, XM_011524522.2:c.3590G>T, XM_011524522.1:c.3590G>A, XM_011524522.1:c.3590G>T, XM_005257159.3:c.3971G>A, XM_005257159.3:c.3971G>T, XM_005257159.2:c.3971G>A, XM_005257159.2:c.3971G>T, XM_005257159.1:c.3971G>A, XM_005257159.1:c.3971G>T, XM_011524523.3:c.3590G>A, XM_011524523.3:c.3590G>T, XM_011524523.2:c.3590G>A, XM_011524523.2:c.3590G>T, XM_011524523.1:c.3590G>A, XM_011524523.1:c.3590G>T, XM_017024353.3:c.3971G>A, XM_017024353.3:c.3971G>T, XM_017024353.2:c.3971G>A, XM_017024353.2:c.3971G>T, XM_017024353.1:c.3971G>A, XM_017024353.1:c.3971G>T, XM_005257160.3:c.3971G>A, XM_005257160.3:c.3971G>T, XM_005257160.2:c.3971G>A, XM_005257160.2:c.3971G>T, XM_005257160.1:c.3971G>A, XM_005257160.1:c.3971G>T, XM_011524525.3:c.3590G>A, XM_011524525.3:c.3590G>T, XM_011524525.2:c.3590G>A, XM_011524525.2:c.3590G>T, XM_011524525.1:c.3590G>A, XM_011524525.1:c.3590G>T, XM_011524526.3:c.3590G>A, XM_011524526.3:c.3590G>T, XM_011524526.2:c.3590G>A, XM_011524526.2:c.3590G>T, XM_011524526.1:c.3590G>A, XM_011524526.1:c.3590G>T, XM_024450646.2:c.3779G>A, XM_024450646.2:c.3779G>T, XM_024450646.1:c.3779G>A, XM_024450646.1:c.3779G>T, XM_024450647.2:c.3971G>A, XM_024450647.2:c.3971G>T, XM_024450647.1:c.3971G>A, XM_024450647.1:c.3971G>T, XM_047435620.1:c.1061G>A, XM_047435620.1:c.1061G>T, XM_047435621.1:c.1061G>A, XM_047435621.1:c.1061G>T, XM_047435597.1:c.3971G>A, XM_047435597.1:c.3971G>T, XM_047435599.1:c.3782G>A, XM_047435599.1:c.3782G>T, XM_047435598.1:c.3782G>A, XM_047435598.1:c.3782G>T, XM_047435600.1:c.3779G>A, XM_047435600.1:c.3779G>T, XM_047435603.1:c.3782G>A, XM_047435603.1:c.3782G>T, XM_047435602.1:c.3782G>A, XM_047435602.1:c.3782G>T, XM_047435604.1:c.3593G>A, XM_047435604.1:c.3593G>T, XM_047435605.1:c.3782G>A, XM_047435605.1:c.3782G>T, XM_047435601.1:c.3971G>A, XM_047435601.1:c.3971G>T, XM_047435610.1:c.3782G>A, XM_047435610.1:c.3782G>T, XM_047435609.1:c.3782G>A, XM_047435609.1:c.3782G>T, XM_047435611.1:c.3779G>A, XM_047435611.1:c.3779G>T, XM_047435613.1:c.3593G>A, XM_047435613.1:c.3593G>T, XM_047435614.1:c.3782G>A, XM_047435614.1:c.3782G>T, XM_047435615.1:c.3593G>A, XM_047435615.1:c.3593G>T, XM_047435616.1:c.3590G>A, XM_047435616.1:c.3590G>T, XM_047435607.1:c.3971G>A, XM_047435607.1:c.3971G>T, XM_047435608.1:c.3593G>A, XM_047435608.1:c.3593G>T, XM_047435617.1:c.3593G>A, XM_047435617.1:c.3593G>T, XM_047435612.1:c.3971G>A, XM_047435612.1:c.3971G>T, XM_047435596.1:c.3971G>A, XM_047435596.1:c.3971G>T, XM_047435606.1:c.3971G>A, XM_047435606.1:c.3971G>T, XM_047435618.1:c.3971G>A, XM_047435618.1:c.3971G>T, XM_047435619.1:c.3971G>A, XM_047435619.1:c.3971G>T, NP_004450.3:p.Ser1324Asn, NP_004450.3:p.Ser1324Ile, NP_872579.2:p.Ser1198Asn, NP_872579.2:p.Ser1198Ile, XP_011522826.1:p.Ser354Asn, XP_011522826.1:p.Ser354Ile, XP_005257207.1:p.Ser1324Asn, XP_005257207.1:p.Ser1324Ile, XP_005257208.1:p.Ser1323Asn, XP_005257208.1:p.Ser1323Ile, XP_005257210.1:p.Ser1324Asn, XP_005257210.1:p.Ser1324Ile, XP_005257211.1:p.Ser1324Asn, XP_005257211.1:p.Ser1324Ile, XP_005257213.1:p.Ser1261Asn, XP_005257213.1:p.Ser1261Ile, XP_005257212.1:p.Ser1261Asn, XP_005257212.1:p.Ser1261Ile, XP_005257214.1:p.Ser1260Asn, XP_005257214.1:p.Ser1260Ile, XP_005257215.1:p.Ser1198Asn, XP_005257215.1:p.Ser1198Ile, XP_005257218.1:p.Ser1324Asn, XP_005257218.1:p.Ser1324Ile, XP_005257209.1:p.Ser1324Asn, XP_005257209.1:p.Ser1324Ile, XP_016879843.1:p.Ser493Asn, XP_016879843.1:p.Ser493Ile, XP_011522822.1:p.Ser1323Asn, XP_011522822.1:p.Ser1323Ile, XP_011522824.1:p.Ser1197Asn, XP_011522824.1:p.Ser1197Ile, XP_005257216.1:p.Ser1324Asn, XP_005257216.1:p.Ser1324Ile, XP_011522825.1:p.Ser1197Asn, XP_011522825.1:p.Ser1197Ile, XP_016879842.1:p.Ser1324Asn, XP_016879842.1:p.Ser1324Ile, XP_005257217.1:p.Ser1324Asn, XP_005257217.1:p.Ser1324Ile, XP_011522827.1:p.Ser1197Asn, XP_011522827.1:p.Ser1197Ile, XP_011522828.1:p.Ser1197Asn, XP_011522828.1:p.Ser1197Ile, XP_024306414.1:p.Ser1260Asn, XP_024306414.1:p.Ser1260Ile, XP_024306415.1:p.Ser1324Asn, XP_024306415.1:p.Ser1324Ile, XP_047291576.1:p.Ser354Asn, XP_047291576.1:p.Ser354Ile, XP_047291577.1:p.Ser354Asn, XP_047291577.1:p.Ser354Ile, XP_047291553.1:p.Ser1324Asn, XP_047291553.1:p.Ser1324Ile, XP_047291555.1:p.Ser1261Asn, XP_047291555.1:p.Ser1261Ile, XP_047291554.1:p.Ser1261Asn, XP_047291554.1:p.Ser1261Ile, XP_047291556.1:p.Ser1260Asn, XP_047291556.1:p.Ser1260Ile, XP_047291559.1:p.Ser1261Asn, XP_047291559.1:p.Ser1261Ile, XP_047291558.1:p.Ser1261Asn, XP_047291558.1:p.Ser1261Ile, XP_047291560.1:p.Ser1198Asn, XP_047291560.1:p.Ser1198Ile, XP_047291561.1:p.Ser1261Asn, XP_047291561.1:p.Ser1261Ile, XP_047291557.1:p.Ser1324Asn, XP_047291557.1:p.Ser1324Ile, XP_047291566.1:p.Ser1261Asn, XP_047291566.1:p.Ser1261Ile, XP_047291565.1:p.Ser1261Asn, XP_047291565.1:p.Ser1261Ile, XP_047291567.1:p.Ser1260Asn, XP_047291567.1:p.Ser1260Ile, XP_047291569.1:p.Ser1198Asn, XP_047291569.1:p.Ser1198Ile, XP_047291570.1:p.Ser1261Asn, XP_047291570.1:p.Ser1261Ile, XP_047291571.1:p.Ser1198Asn, XP_047291571.1:p.Ser1198Ile, XP_047291572.1:p.Ser1197Asn, XP_047291572.1:p.Ser1197Ile, XP_047291563.1:p.Ser1324Asn, XP_047291563.1:p.Ser1324Ile, XP_047291564.1:p.Ser1198Asn, XP_047291564.1:p.Ser1198Ile, XP_047291573.1:p.Ser1198Asn, XP_047291573.1:p.Ser1198Ile, XP_047291568.1:p.Ser1324Asn, XP_047291568.1:p.Ser1324Ile, XP_047291552.1:p.Ser1324Asn, XP_047291552.1:p.Ser1324Ile, XP_047291562.1:p.Ser1324Asn, XP_047291562.1:p.Ser1324Ile, XP_047291574.1:p.Ser1324Asn, XP_047291574.1:p.Ser1324Ile, XP_047291575.1:p.Ser1324Asn, XP_047291575.1:p.Ser1324Ile

Select item 14892845235.

rs1489284523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:67825931 (GRCh38)
17:65822047 (GRCh37)
Canonical SPDI:: NC_000017.11:67825930:G:T
Gene:: BPTF (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.67825931G>T, NC_000017.10:g.65822047G>T, NG_052828.1:g.5415G>T, NM_004459.7:c.207G>T, NM_004459.6:c.207G>T, NM_182641.4:c.207G>T, NM_182641.3:c.207G>T, XM_005257150.4:c.207G>T, XM_005257150.3:c.207G>T, XM_005257150.2:c.207G>T, XM_005257150.1:c.207G>T, XM_005257151.4:c.207G>T, XM_005257151.3:c.207G>T, XM_005257151.2:c.207G>T, XM_005257151.1:c.207G>T, XM_005257153.4:c.207G>T, XM_005257153.3:c.207G>T, XM_005257153.2:c.207G>T, XM_005257153.1:c.207G>T, XM_005257154.4:c.207G>T, XM_005257154.3:c.207G>T, XM_005257154.2:c.207G>T, XM_005257154.1:c.207G>T, XM_005257156.4:c.207G>T, XM_005257156.3:c.207G>T, XM_005257156.2:c.207G>T, XM_005257156.1:c.207G>T, XM_005257155.4:c.207G>T, XM_005257155.3:c.207G>T, XM_005257155.2:c.207G>T, XM_005257155.1:c.207G>T, XM_005257157.4:c.207G>T, XM_005257157.3:c.207G>T, XM_005257157.2:c.207G>T, XM_005257157.1:c.207G>T, XM_005257158.4:c.207G>T, XM_005257158.3:c.207G>T, XM_005257158.2:c.207G>T, XM_005257158.1:c.207G>T, XM_005257161.4:c.207G>T, XM_005257161.3:c.207G>T, XM_005257161.2:c.207G>T, XM_005257161.1:c.207G>T, XM_005257152.4:c.207G>T, XM_005257152.3:c.207G>T, XM_005257152.2:c.207G>T, XM_005257152.1:c.207G>T, XM_011524520.3:c.207G>T, XM_011524520.2:c.207G>T, XM_011524520.1:c.207G>T, XM_011524522.3:c.207G>T, XM_011524522.2:c.207G>T, XM_011524522.1:c.207G>T, XM_005257159.3:c.207G>T, XM_005257159.2:c.207G>T, XM_005257159.1:c.207G>T, XM_011524523.3:c.207G>T, XM_011524523.2:c.207G>T, XM_011524523.1:c.207G>T, XM_017024353.3:c.207G>T, XM_017024353.2:c.207G>T, XM_017024353.1:c.207G>T, XM_005257160.3:c.207G>T, XM_005257160.2:c.207G>T, XM_005257160.1:c.207G>T, XM_011524525.3:c.207G>T, XM_011524525.2:c.207G>T, XM_011524525.1:c.207G>T, XM_011524526.3:c.207G>T, XM_011524526.2:c.207G>T, XM_011524526.1:c.207G>T, XM_024450646.2:c.207G>T, XM_024450646.1:c.207G>T, XM_024450647.2:c.207G>T, XM_024450647.1:c.207G>T, XM_047435597.1:c.207G>T, XM_047435599.1:c.207G>T, XM_047435598.1:c.207G>T, XM_047435600.1:c.207G>T, XM_047435603.1:c.207G>T, XM_047435602.1:c.207G>T, XM_047435604.1:c.207G>T, XM_047435605.1:c.207G>T, XM_047435601.1:c.207G>T, XM_047435610.1:c.207G>T, XM_047435609.1:c.207G>T, XM_047435611.1:c.207G>T, XM_047435613.1:c.207G>T, XM_047435614.1:c.207G>T, XM_047435615.1:c.207G>T, XM_047435616.1:c.207G>T, XM_047435607.1:c.207G>T, XM_047435608.1:c.207G>T, XM_047435617.1:c.207G>T, XM_047435612.1:c.207G>T, XM_047435596.1:c.207G>T, XM_047435606.1:c.207G>T, XM_047435618.1:c.207G>T, XM_047435619.1:c.207G>T

Select item 14892586206.

rs1489258620 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCCGCC>-,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC [Show Flanks]
Chromosome:: 17:67825808 (GRCh38)
17:65821924 (GRCh37)
Canonical SPDI:: NC_000017.11:67825802:CCGCCGCCGCCGCC:CCGCC,NC_000017.11:67825802:CCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000017.11:67825802:CCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCC,NC_000017.11:67825802:CCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC
Gene:: BPTF (Varview)
Functional Consequence:: inframe_insertion,inframe_deletion,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCGCCGCCGCCGCCGCC=0./0 (ALFA)
CCGCCGCCG=0.00057/1 (Korea1K)
HGVS:: NC_000017.11:g.67825805GCC[1], NC_000017.11:g.67825805GCC[5], NC_000017.11:g.67825805GCC[6], NC_000017.11:g.67825805GCC[7], NC_000017.10:g.65821921GCC[1], NC_000017.10:g.65821921GCC[5], NC_000017.10:g.65821921GCC[6], NC_000017.10:g.65821921GCC[7], NG_052828.1:g.5289GCC[1], NG_052828.1:g.5289GCC[5], NG_052828.1:g.5289GCC[6], NG_052828.1:g.5289GCC[7], NM_004459.7:c.81GCC[1], NM_004459.7:c.81GCC[5], NM_004459.7:c.81GCC[6], NM_004459.7:c.81GCC[7], NM_004459.6:c.81GCC[1], NM_004459.6:c.81GCC[5], NM_004459.6:c.81GCC[6], NM_004459.6:c.81GCC[7], NM_182641.4:c.81GCC[1], NM_182641.4:c.81GCC[5], NM_182641.4:c.81GCC[6], NM_182641.4:c.81GCC[7], NM_182641.3:c.81GCC[1], NM_182641.3:c.81GCC[5], NM_182641.3:c.81GCC[6], NM_182641.3:c.81GCC[7], XM_005257150.4:c.81GCC[1], XM_005257150.4:c.81GCC[5], XM_005257150.4:c.81GCC[6], XM_005257150.4:c.81GCC[7], XM_005257150.3:c.81GCC[1], XM_005257150.3:c.81GCC[5], XM_005257150.3:c.81GCC[6], XM_005257150.3:c.81GCC[7], XM_005257150.2:c.81GCC[1], 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XP_005257207.1:p.Pro30_Pro31dup, XP_005257207.1:p.Pro29_Pro31dup, XP_005257208.1:p.Pro29_Pro31del, XP_005257208.1:p.Pro31dup, XP_005257208.1:p.Pro30_Pro31dup, XP_005257208.1:p.Pro29_Pro31dup, XP_005257210.1:p.Pro29_Pro31del, XP_005257210.1:p.Pro31dup, XP_005257210.1:p.Pro30_Pro31dup, XP_005257210.1:p.Pro29_Pro31dup, XP_005257211.1:p.Pro29_Pro31del, XP_005257211.1:p.Pro31dup, XP_005257211.1:p.Pro30_Pro31dup, XP_005257211.1:p.Pro29_Pro31dup, XP_005257213.1:p.Pro29_Pro31del, XP_005257213.1:p.Pro31dup, XP_005257213.1:p.Pro30_Pro31dup, XP_005257213.1:p.Pro29_Pro31dup, XP_005257212.1:p.Pro29_Pro31del, XP_005257212.1:p.Pro31dup, XP_005257212.1:p.Pro30_Pro31dup, XP_005257212.1:p.Pro29_Pro31dup, XP_005257214.1:p.Pro29_Pro31del, XP_005257214.1:p.Pro31dup, XP_005257214.1:p.Pro30_Pro31dup, XP_005257214.1:p.Pro29_Pro31dup, XP_005257215.1:p.Pro29_Pro31del, XP_005257215.1:p.Pro31dup, XP_005257215.1:p.Pro30_Pro31dup, XP_005257215.1:p.Pro29_Pro31dup, XP_005257218.1:p.Pro29_Pro31del, XP_005257218.1:p.Pro31dup, XP_005257218.1:p.Pro30_Pro31dup, XP_005257218.1:p.Pro29_Pro31dup, XP_005257209.1:p.Pro29_Pro31del, XP_005257209.1:p.Pro31dup, XP_005257209.1:p.Pro30_Pro31dup, XP_005257209.1:p.Pro29_Pro31dup, XP_011522822.1:p.Pro29_Pro31del, XP_011522822.1:p.Pro31dup, XP_011522822.1:p.Pro30_Pro31dup, XP_011522822.1:p.Pro29_Pro31dup, XP_011522824.1:p.Pro29_Pro31del, XP_011522824.1:p.Pro31dup, XP_011522824.1:p.Pro30_Pro31dup, XP_011522824.1:p.Pro29_Pro31dup, XP_005257216.1:p.Pro29_Pro31del, XP_005257216.1:p.Pro31dup, XP_005257216.1:p.Pro30_Pro31dup, XP_005257216.1:p.Pro29_Pro31dup, XP_011522825.1:p.Pro29_Pro31del, XP_011522825.1:p.Pro31dup, XP_011522825.1:p.Pro30_Pro31dup, XP_011522825.1:p.Pro29_Pro31dup, XP_016879842.1:p.Pro29_Pro31del, XP_016879842.1:p.Pro31dup, XP_016879842.1:p.Pro30_Pro31dup, XP_016879842.1:p.Pro29_Pro31dup, XP_005257217.1:p.Pro29_Pro31del, XP_005257217.1:p.Pro31dup, XP_005257217.1:p.Pro30_Pro31dup, XP_005257217.1:p.Pro29_Pro31dup, XP_011522827.1:p.Pro29_Pro31del, XP_011522827.1:p.Pro31dup, XP_011522827.1:p.Pro30_Pro31dup, XP_011522827.1:p.Pro29_Pro31dup, XP_011522828.1:p.Pro29_Pro31del, XP_011522828.1:p.Pro31dup, XP_011522828.1:p.Pro30_Pro31dup, XP_011522828.1:p.Pro29_Pro31dup, XP_024306414.1:p.Pro29_Pro31del, XP_024306414.1:p.Pro31dup, XP_024306414.1:p.Pro30_Pro31dup, XP_024306414.1:p.Pro29_Pro31dup, XP_024306415.1:p.Pro29_Pro31del, XP_024306415.1:p.Pro31dup, XP_024306415.1:p.Pro30_Pro31dup, XP_024306415.1:p.Pro29_Pro31dup, XP_047291553.1:p.Pro29_Pro31del, XP_047291553.1:p.Pro31dup, XP_047291553.1:p.Pro30_Pro31dup, XP_047291553.1:p.Pro29_Pro31dup, XP_047291555.1:p.Pro29_Pro31del, XP_047291555.1:p.Pro31dup, XP_047291555.1:p.Pro30_Pro31dup, XP_047291555.1:p.Pro29_Pro31dup, XP_047291554.1:p.Pro29_Pro31del, XP_047291554.1:p.Pro31dup, XP_047291554.1:p.Pro30_Pro31dup, XP_047291554.1:p.Pro29_Pro31dup, XP_047291556.1:p.Pro29_Pro31del, XP_047291556.1:p.Pro31dup, XP_047291556.1:p.Pro30_Pro31dup, XP_047291556.1:p.Pro29_Pro31dup, XP_047291559.1:p.Pro29_Pro31del, XP_047291559.1:p.Pro31dup, XP_047291559.1:p.Pro30_Pro31dup, XP_047291559.1:p.Pro29_Pro31dup, XP_047291558.1:p.Pro29_Pro31del, XP_047291558.1:p.Pro31dup, XP_047291558.1:p.Pro30_Pro31dup, XP_047291558.1:p.Pro29_Pro31dup, XP_047291560.1:p.Pro29_Pro31del, XP_047291560.1:p.Pro31dup, XP_047291560.1:p.Pro30_Pro31dup, XP_047291560.1:p.Pro29_Pro31dup, XP_047291561.1:p.Pro29_Pro31del, XP_047291561.1:p.Pro31dup, XP_047291561.1:p.Pro30_Pro31dup, XP_047291561.1:p.Pro29_Pro31dup, XP_047291557.1:p.Pro29_Pro31del, XP_047291557.1:p.Pro31dup, XP_047291557.1:p.Pro30_Pro31dup, XP_047291557.1:p.Pro29_Pro31dup, XP_047291566.1:p.Pro29_Pro31del, XP_047291566.1:p.Pro31dup, XP_047291566.1:p.Pro30_Pro31dup, XP_047291566.1:p.Pro29_Pro31dup, XP_047291565.1:p.Pro29_Pro31del, XP_047291565.1:p.Pro31dup, XP_047291565.1:p.Pro30_Pro31dup, XP_047291565.1:p.Pro29_Pro31dup, XP_047291567.1:p.Pro29_Pro31del, XP_047291567.1:p.Pro31dup, XP_047291567.1:p.Pro30_Pro31dup, XP_047291567.1:p.Pro29_Pro31dup, XP_047291569.1:p.Pro29_Pro31del, XP_047291569.1:p.Pro31dup, XP_047291569.1:p.Pro30_Pro31dup, XP_047291569.1:p.Pro29_Pro31dup, XP_047291570.1:p.Pro29_Pro31del, XP_047291570.1:p.Pro31dup, XP_047291570.1:p.Pro30_Pro31dup, XP_047291570.1:p.Pro29_Pro31dup, XP_047291571.1:p.Pro29_Pro31del, XP_047291571.1:p.Pro31dup, XP_047291571.1:p.Pro30_Pro31dup, XP_047291571.1:p.Pro29_Pro31dup, XP_047291572.1:p.Pro29_Pro31del, XP_047291572.1:p.Pro31dup, XP_047291572.1:p.Pro30_Pro31dup, XP_047291572.1:p.Pro29_Pro31dup, XP_047291563.1:p.Pro29_Pro31del, XP_047291563.1:p.Pro31dup, XP_047291563.1:p.Pro30_Pro31dup, XP_047291563.1:p.Pro29_Pro31dup, XP_047291564.1:p.Pro29_Pro31del, XP_047291564.1:p.Pro31dup, XP_047291564.1:p.Pro30_Pro31dup, XP_047291564.1:p.Pro29_Pro31dup, XP_047291573.1:p.Pro29_Pro31del, XP_047291573.1:p.Pro31dup, XP_047291573.1:p.Pro30_Pro31dup, XP_047291573.1:p.Pro29_Pro31dup, XP_047291568.1:p.Pro29_Pro31del, XP_047291568.1:p.Pro31dup, XP_047291568.1:p.Pro30_Pro31dup, XP_047291568.1:p.Pro29_Pro31dup, XP_047291552.1:p.Pro29_Pro31del, XP_047291552.1:p.Pro31dup, XP_047291552.1:p.Pro30_Pro31dup, XP_047291552.1:p.Pro29_Pro31dup, XP_047291562.1:p.Pro29_Pro31del, XP_047291562.1:p.Pro31dup, XP_047291562.1:p.Pro30_Pro31dup, XP_047291562.1:p.Pro29_Pro31dup, XP_047291574.1:p.Pro29_Pro31del, XP_047291574.1:p.Pro31dup, XP_047291574.1:p.Pro30_Pro31dup, XP_047291574.1:p.Pro29_Pro31dup, XP_047291575.1:p.Pro29_Pro31del, XP_047291575.1:p.Pro31dup, XP_047291575.1:p.Pro30_Pro31dup, XP_047291575.1:p.Pro29_Pro31dup

Select item 14889495477.

rs1488949547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:67924583 (GRCh38)
17:65920699 (GRCh37)
Canonical SPDI:: NC_000017.11:67924582:G:A
Gene:: BPTF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.67924583G>A, NC_000017.10:g.65920699G>A, NG_052828.1:g.104067G>A, NM_004459.7:c.6123G>A, NM_004459.6:c.6123G>A, NM_182641.4:c.5745G>A, NM_182641.3:c.5745G>A, XM_011524524.4:c.3213G>A, XM_011524524.3:c.3213G>A, XM_011524524.2:c.3213G>A, XM_011524524.1:c.3213G>A, XM_005257150.4:c.6123G>A, XM_005257150.3:c.6123G>A, XM_005257150.2:c.6123G>A, XM_005257150.1:c.6123G>A, XM_005257151.4:c.6120G>A, XM_005257151.3:c.6120G>A, XM_005257151.2:c.6120G>A, XM_005257151.1:c.6120G>A, XM_005257153.4:c.6123G>A, XM_005257153.3:c.6123G>A, XM_005257153.2:c.6123G>A, XM_005257153.1:c.6123G>A, XM_005257154.4:c.6123G>A, XM_005257154.3:c.6123G>A, XM_005257154.2:c.6123G>A, XM_005257154.1:c.6123G>A, XM_005257156.4:c.5934G>A, XM_005257156.3:c.5934G>A, XM_005257156.2:c.5934G>A, XM_005257156.1:c.5934G>A, XM_005257155.4:c.5934G>A, XM_005257155.3:c.5934G>A, XM_005257155.2:c.5934G>A, XM_005257155.1:c.5934G>A, XM_005257157.4:c.5931G>A, XM_005257157.3:c.5931G>A, XM_005257157.2:c.5931G>A, XM_005257157.1:c.5931G>A, XM_005257158.4:c.5745G>A, XM_005257158.3:c.5745G>A, XM_005257158.2:c.5745G>A, XM_005257158.1:c.5745G>A, XM_005257161.4:c.6123G>A, XM_005257161.3:c.6123G>A, XM_005257161.2:c.6123G>A, XM_005257161.1:c.6123G>A, XM_005257152.4:c.6123G>A, XM_005257152.3:c.6123G>A, XM_005257152.2:c.6123G>A, XM_005257152.1:c.6123G>A, XM_017024354.3:c.3630G>A, XM_017024354.2:c.3630G>A, XM_017024354.1:c.3630G>A, XM_011524520.3:c.6120G>A, XM_011524520.2:c.6120G>A, XM_011524520.1:c.6120G>A, XM_011524522.3:c.5742G>A, XM_011524522.2:c.5742G>A, XM_011524522.1:c.5742G>A, XM_005257159.3:c.6123G>A, XM_005257159.2:c.6123G>A, XM_005257159.1:c.6123G>A, XM_011524523.3:c.5742G>A, XM_011524523.2:c.5742G>A, XM_011524523.1:c.5742G>A, XM_017024353.3:c.6123G>A, XM_017024353.2:c.6123G>A, XM_017024353.1:c.6123G>A, XM_005257160.3:c.6123G>A, XM_005257160.2:c.6123G>A, XM_005257160.1:c.6123G>A, XM_011524525.3:c.5742G>A, XM_011524525.2:c.5742G>A, XM_011524525.1:c.5742G>A, XM_011524526.3:c.5742G>A, XM_011524526.2:c.5742G>A, XM_011524526.1:c.5742G>A, XM_024450646.2:c.5931G>A, XM_024450646.1:c.5931G>A, XM_024450647.2:c.6123G>A, XM_024450647.1:c.6123G>A, XM_047435620.1:c.3213G>A, XM_047435621.1:c.3213G>A, XM_047435597.1:c.6123G>A, XM_047435599.1:c.5934G>A, XM_047435598.1:c.5934G>A, XM_047435600.1:c.5931G>A, XM_047435603.1:c.5934G>A, XM_047435602.1:c.5934G>A, XM_047435604.1:c.5745G>A, XM_047435605.1:c.5934G>A, XM_047435601.1:c.6123G>A, XM_047435610.1:c.5934G>A, XM_047435609.1:c.5934G>A, XM_047435611.1:c.5931G>A, XM_047435613.1:c.5745G>A, XM_047435614.1:c.5934G>A, XM_047435615.1:c.5745G>A, XM_047435616.1:c.5742G>A, XM_047435607.1:c.6123G>A, XM_047435608.1:c.5745G>A, XM_047435617.1:c.5745G>A, XM_047435612.1:c.6123G>A, XM_047435596.1:c.6123G>A, XM_047435606.1:c.6123G>A, XM_047435618.1:c.6123G>A, XM_047435619.1:c.6123G>A

Select item 14886655368.

rs1488665536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:67975806 (GRCh38)
17:65971922 (GRCh37)
Canonical SPDI:: NC_000017.11:67975805:A:G
Gene:: BPTF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67975806A>G, NC_000017.10:g.65971922A>G, NG_052828.1:g.155290A>G, NM_004459.7:c.8523A>G, NM_004459.6:c.8523A>G, NM_182641.4:c.8574A>G, NM_182641.3:c.8574A>G, NW_003871088.1:g.35817A>G, XM_011524524.4:c.6378A>G, XM_011524524.3:c.6378A>G, XM_011524524.2:c.6378A>G, XM_011524524.1:c.6378A>G, XM_005257150.4:c.9288A>G, XM_005257150.3:c.9288A>G, XM_005257150.2:c.9288A>G, XM_005257150.1:c.9288A>G, XM_005257151.4:c.9285A>G, XM_005257151.3:c.9285A>G, XM_005257151.2:c.9285A>G, XM_005257151.1:c.9285A>G, XM_005257153.4:c.9126A>G, XM_005257153.3:c.9126A>G, XM_005257153.2:c.9126A>G, XM_005257153.1:c.9126A>G, XM_005257154.4:c.9114A>G, XM_005257154.3:c.9114A>G, XM_005257154.2:c.9114A>G, XM_005257154.1:c.9114A>G, XM_005257156.4:c.9099A>G, XM_005257156.3:c.9099A>G, XM_005257156.2:c.9099A>G, XM_005257156.1:c.9099A>G, XM_005257155.4:c.9099A>G, XM_005257155.3:c.9099A>G, XM_005257155.2:c.9099A>G, XM_005257155.1:c.9099A>G, XM_005257157.4:c.9096A>G, XM_005257157.3:c.9096A>G, XM_005257157.2:c.9096A>G, XM_005257157.1:c.9096A>G, XM_005257158.4:c.8910A>G, XM_005257158.3:c.8910A>G, XM_005257158.2:c.8910A>G, XM_005257158.1:c.8910A>G, XM_005257161.4:c.8685A>G, XM_005257161.3:c.8685A>G, XM_005257161.2:c.8685A>G, XM_005257161.1:c.8685A>G, XM_005257152.4:c.9288A>G, XM_005257152.3:c.9288A>G, XM_005257152.2:c.9288A>G, XM_005257152.1:c.9288A>G, XM_017024354.3:c.6795A>G, XM_017024354.2:c.6795A>G, XM_017024354.1:c.6795A>G, XM_011524520.3:c.9285A>G, XM_011524520.2:c.9285A>G, XM_011524520.1:c.9285A>G, XM_011524522.3:c.8907A>G, XM_011524522.2:c.8907A>G, XM_011524522.1:c.8907A>G, XM_005257159.3:c.8859A>G, XM_005257159.2:c.8859A>G, XM_005257159.1:c.8859A>G, XM_011524523.3:c.8745A>G, XM_011524523.2:c.8745A>G, XM_011524523.1:c.8745A>G, XM_017024353.3:c.9114A>G, XM_017024353.2:c.9114A>G, XM_017024353.1:c.9114A>G, XM_005257160.3:c.8697A>G, XM_005257160.2:c.8697A>G, XM_005257160.1:c.8697A>G, XM_011524525.3:c.8571A>G, XM_011524525.2:c.8571A>G, XM_011524525.1:c.8571A>G, XM_011524526.3:c.8142A>G, XM_011524526.2:c.8142A>G, XM_011524526.1:c.8142A>G, XM_024450646.2:c.9096A>G, XM_024450646.1:c.9096A>G, XM_024450647.2:c.8859A>G, XM_024450647.1:c.8859A>G, XM_047435620.1:c.6042A>G, XM_047435621.1:c.5787A>G, XM_047435597.1:c.8952A>G, XM_047435599.1:c.8937A>G, XM_047435598.1:c.8937A>G, XM_047435600.1:c.8934A>G, XM_047435603.1:c.8763A>G, XM_047435602.1:c.8763A>G, XM_047435604.1:c.8748A>G, XM_047435605.1:c.8670A>G, XM_047435601.1:c.8952A>G, XM_047435610.1:c.8508A>G, XM_047435609.1:c.8508A>G, XM_047435611.1:c.8505A>G, XM_047435613.1:c.8481A>G, XM_047435614.1:c.8334A>G, XM_047435615.1:c.8319A>G, XM_047435616.1:c.8316A>G, XM_047435607.1:c.8685A>G, XM_047435608.1:c.8574A>G, XM_047435617.1:c.8145A>G, XM_047435612.1:c.8523A>G, XM_047435596.1:c.9126A>G, XM_047435606.1:c.8697A>G

Select item 14886270029.

rs1488627002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:67854409 (GRCh38)
17:65850525 (GRCh37)
Canonical SPDI:: NC_000017.11:67854408:C:A
Gene:: BPTF (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.67854409C>A, NC_000017.10:g.65850525C>A, NG_052828.1:g.33893C>A, NM_004459.7:c.1083C>A, NM_004459.6:c.1083C>A, NM_182641.4:c.1083C>A, NM_182641.3:c.1083C>A, XM_005257150.4:c.1083C>A, XM_005257150.3:c.1083C>A, XM_005257150.2:c.1083C>A, XM_005257150.1:c.1083C>A, XM_005257151.4:c.1083C>A, XM_005257151.3:c.1083C>A, XM_005257151.2:c.1083C>A, XM_005257151.1:c.1083C>A, XM_005257153.4:c.1083C>A, XM_005257153.3:c.1083C>A, XM_005257153.2:c.1083C>A, XM_005257153.1:c.1083C>A, XM_005257154.4:c.1083C>A, XM_005257154.3:c.1083C>A, XM_005257154.2:c.1083C>A, XM_005257154.1:c.1083C>A, XM_005257156.4:c.1083C>A, XM_005257156.3:c.1083C>A, XM_005257156.2:c.1083C>A, XM_005257156.1:c.1083C>A, XM_005257155.4:c.1083C>A, XM_005257155.3:c.1083C>A, XM_005257155.2:c.1083C>A, XM_005257155.1:c.1083C>A, XM_005257157.4:c.1083C>A, XM_005257157.3:c.1083C>A, XM_005257157.2:c.1083C>A, XM_005257157.1:c.1083C>A, XM_005257158.4:c.1083C>A, XM_005257158.3:c.1083C>A, XM_005257158.2:c.1083C>A, XM_005257158.1:c.1083C>A, XM_005257161.4:c.1083C>A, XM_005257161.3:c.1083C>A, XM_005257161.2:c.1083C>A, XM_005257161.1:c.1083C>A, XM_005257152.4:c.1083C>A, XM_005257152.3:c.1083C>A, XM_005257152.2:c.1083C>A, XM_005257152.1:c.1083C>A, XM_011524520.3:c.1083C>A, XM_011524520.2:c.1083C>A, XM_011524520.1:c.1083C>A, XM_011524522.3:c.1083C>A, XM_011524522.2:c.1083C>A, XM_011524522.1:c.1083C>A, XM_005257159.3:c.1083C>A, XM_005257159.2:c.1083C>A, XM_005257159.1:c.1083C>A, XM_011524523.3:c.1083C>A, XM_011524523.2:c.1083C>A, XM_011524523.1:c.1083C>A, XM_017024353.3:c.1083C>A, XM_017024353.2:c.1083C>A, XM_017024353.1:c.1083C>A, XM_005257160.3:c.1083C>A, XM_005257160.2:c.1083C>A, XM_005257160.1:c.1083C>A, XM_011524525.3:c.1083C>A, XM_011524525.2:c.1083C>A, XM_011524525.1:c.1083C>A, XM_011524526.3:c.1083C>A, XM_011524526.2:c.1083C>A, XM_011524526.1:c.1083C>A, XM_024450646.2:c.1083C>A, XM_024450646.1:c.1083C>A, XM_024450647.2:c.1083C>A, XM_024450647.1:c.1083C>A, XM_047435597.1:c.1083C>A, XM_047435599.1:c.1083C>A, XM_047435598.1:c.1083C>A, XM_047435600.1:c.1083C>A, XM_047435603.1:c.1083C>A, XM_047435602.1:c.1083C>A, XM_047435604.1:c.1083C>A, XM_047435605.1:c.1083C>A, XM_047435601.1:c.1083C>A, XM_047435610.1:c.1083C>A, XM_047435609.1:c.1083C>A, XM_047435611.1:c.1083C>A, XM_047435613.1:c.1083C>A, XM_047435614.1:c.1083C>A, XM_047435615.1:c.1083C>A, XM_047435616.1:c.1083C>A, XM_047435607.1:c.1083C>A, XM_047435608.1:c.1083C>A, XM_047435617.1:c.1083C>A, XM_047435612.1:c.1083C>A, XM_047435596.1:c.1083C>A, XM_047435606.1:c.1083C>A, XM_047435618.1:c.1083C>A, XM_047435619.1:c.1083C>A

Select item 148842548110.

rs1488425481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:67904759 (GRCh38)
17:65900875 (GRCh37)
Canonical SPDI:: NC_000017.11:67904758:A:C,NC_000017.11:67904758:A:G
Gene:: BPTF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.002183/4 (Korea1K)
HGVS:: NC_000017.11:g.67904759A>C, NC_000017.11:g.67904759A>G, NC_000017.10:g.65900875A>C, NC_000017.10:g.65900875A>G, NG_052828.1:g.84243A>C, NG_052828.1:g.84243A>G, NM_004459.7:c.3109A>C, NM_004459.7:c.3109A>G, NM_004459.6:c.3109A>C, NM_004459.6:c.3109A>G, NM_182641.4:c.2731A>C, NM_182641.4:c.2731A>G, NM_182641.3:c.2731A>C, NM_182641.3:c.2731A>G, XM_011524524.4:c.199A>C, XM_011524524.4:c.199A>G, XM_011524524.3:c.199A>C, XM_011524524.3:c.199A>G, XM_011524524.2:c.199A>C, XM_011524524.2:c.199A>G, XM_011524524.1:c.199A>C, XM_011524524.1:c.199A>G, XM_005257150.4:c.3109A>C, XM_005257150.4:c.3109A>G, XM_005257150.3:c.3109A>C, XM_005257150.3:c.3109A>G, XM_005257150.2:c.3109A>C, XM_005257150.2:c.3109A>G, XM_005257150.1:c.3109A>C, XM_005257150.1:c.3109A>G, XM_005257151.4:c.3106A>C, XM_005257151.4:c.3106A>G, XM_005257151.3:c.3106A>C, XM_005257151.3:c.3106A>G, XM_005257151.2:c.3106A>C, XM_005257151.2:c.3106A>G, XM_005257151.1:c.3106A>C, XM_005257151.1:c.3106A>G, XM_005257153.4:c.3109A>C, XM_005257153.4:c.3109A>G, XM_005257153.3:c.3109A>C, XM_005257153.3:c.3109A>G, XM_005257153.2:c.3109A>C, XM_005257153.2:c.3109A>G, XM_005257153.1:c.3109A>C, XM_005257153.1:c.3109A>G, XM_005257154.4:c.3109A>C, XM_005257154.4:c.3109A>G, XM_005257154.3:c.3109A>C, XM_005257154.3:c.3109A>G, XM_005257154.2:c.3109A>C, XM_005257154.2:c.3109A>G, XM_005257154.1:c.3109A>C, XM_005257154.1:c.3109A>G, XM_005257156.4:c.2920A>C, XM_005257156.4:c.2920A>G, XM_005257156.3:c.2920A>C, XM_005257156.3:c.2920A>G, XM_005257156.2:c.2920A>C, XM_005257156.2:c.2920A>G, XM_005257156.1:c.2920A>C, XM_005257156.1:c.2920A>G, XM_005257155.4:c.2920A>C, XM_005257155.4:c.2920A>G, XM_005257155.3:c.2920A>C, XM_005257155.3:c.2920A>G, XM_005257155.2:c.2920A>C, XM_005257155.2:c.2920A>G, XM_005257155.1:c.2920A>C, XM_005257155.1:c.2920A>G, XM_005257157.4:c.2917A>C, XM_005257157.4:c.2917A>G, XM_005257157.3:c.2917A>C, XM_005257157.3:c.2917A>G, XM_005257157.2:c.2917A>C, XM_005257157.2:c.2917A>G, XM_005257157.1:c.2917A>C, XM_005257157.1:c.2917A>G, XM_005257158.4:c.2731A>C, XM_005257158.4:c.2731A>G, XM_005257158.3:c.2731A>C, XM_005257158.3:c.2731A>G, XM_005257158.2:c.2731A>C, XM_005257158.2:c.2731A>G, XM_005257158.1:c.2731A>C, XM_005257158.1:c.2731A>G, XM_005257161.4:c.3109A>C, XM_005257161.4:c.3109A>G, XM_005257161.3:c.3109A>C, XM_005257161.3:c.3109A>G, XM_005257161.2:c.3109A>C, XM_005257161.2:c.3109A>G, XM_005257161.1:c.3109A>C, XM_005257161.1:c.3109A>G, XM_005257152.4:c.3109A>C, XM_005257152.4:c.3109A>G, XM_005257152.3:c.3109A>C, XM_005257152.3:c.3109A>G, XM_005257152.2:c.3109A>C, XM_005257152.2:c.3109A>G, XM_005257152.1:c.3109A>C, XM_005257152.1:c.3109A>G, XM_017024354.3:c.616A>C, XM_017024354.3:c.616A>G, XM_017024354.2:c.616A>C, XM_017024354.2:c.616A>G, XM_017024354.1:c.616A>C, XM_017024354.1:c.616A>G, XM_011524520.3:c.3106A>C, XM_011524520.3:c.3106A>G, XM_011524520.2:c.3106A>C, XM_011524520.2:c.3106A>G, XM_011524520.1:c.3106A>C, XM_011524520.1:c.3106A>G, XM_011524522.3:c.2728A>C, XM_011524522.3:c.2728A>G, XM_011524522.2:c.2728A>C, XM_011524522.2:c.2728A>G, XM_011524522.1:c.2728A>C, XM_011524522.1:c.2728A>G, XM_005257159.3:c.3109A>C, XM_005257159.3:c.3109A>G, XM_005257159.2:c.3109A>C, XM_005257159.2:c.3109A>G, XM_005257159.1:c.3109A>C, XM_005257159.1:c.3109A>G, XM_011524523.3:c.2728A>C, XM_011524523.3:c.2728A>G, XM_011524523.2:c.2728A>C, XM_011524523.2:c.2728A>G, XM_011524523.1:c.2728A>C, XM_011524523.1:c.2728A>G, XM_017024353.3:c.3109A>C, XM_017024353.3:c.3109A>G, XM_017024353.2:c.3109A>C, XM_017024353.2:c.3109A>G, XM_017024353.1:c.3109A>C, XM_017024353.1:c.3109A>G, XM_005257160.3:c.3109A>C, XM_005257160.3:c.3109A>G, XM_005257160.2:c.3109A>C, XM_005257160.2:c.3109A>G, XM_005257160.1:c.3109A>C, XM_005257160.1:c.3109A>G, XM_011524525.3:c.2728A>C, XM_011524525.3:c.2728A>G, XM_011524525.2:c.2728A>C, XM_011524525.2:c.2728A>G, XM_011524525.1:c.2728A>C, XM_011524525.1:c.2728A>G, XM_011524526.3:c.2728A>C, XM_011524526.3:c.2728A>G, XM_011524526.2:c.2728A>C, XM_011524526.2:c.2728A>G, XM_011524526.1:c.2728A>C, XM_011524526.1:c.2728A>G, XM_024450646.2:c.2917A>C, XM_024450646.2:c.2917A>G, XM_024450646.1:c.2917A>C, XM_024450646.1:c.2917A>G, XM_024450647.2:c.3109A>C, XM_024450647.2:c.3109A>G, XM_024450647.1:c.3109A>C, XM_024450647.1:c.3109A>G, XM_047435620.1:c.199A>C, XM_047435620.1:c.199A>G, XM_047435621.1:c.199A>C, XM_047435621.1:c.199A>G, XM_047435597.1:c.3109A>C, XM_047435597.1:c.3109A>G, XM_047435599.1:c.2920A>C, XM_047435599.1:c.2920A>G, XM_047435598.1:c.2920A>C, XM_047435598.1:c.2920A>G, XM_047435600.1:c.2917A>C, XM_047435600.1:c.2917A>G, XM_047435603.1:c.2920A>C, XM_047435603.1:c.2920A>G, XM_047435602.1:c.2920A>C, XM_047435602.1:c.2920A>G, XM_047435604.1:c.2731A>C, XM_047435604.1:c.2731A>G, XM_047435605.1:c.2920A>C, XM_047435605.1:c.2920A>G, XM_047435601.1:c.3109A>C, XM_047435601.1:c.3109A>G, XM_047435610.1:c.2920A>C, XM_047435610.1:c.2920A>G, XM_047435609.1:c.2920A>C, XM_047435609.1:c.2920A>G, XM_047435611.1:c.2917A>C, XM_047435611.1:c.2917A>G, XM_047435613.1:c.2731A>C, XM_047435613.1:c.2731A>G, XM_047435614.1:c.2920A>C, XM_047435614.1:c.2920A>G, XM_047435615.1:c.2731A>C, XM_047435615.1:c.2731A>G, XM_047435616.1:c.2728A>C, XM_047435616.1:c.2728A>G, XM_047435607.1:c.3109A>C, XM_047435607.1:c.3109A>G, XM_047435608.1:c.2731A>C, XM_047435608.1:c.2731A>G, XM_047435617.1:c.2731A>C, XM_047435617.1:c.2731A>G, XM_047435612.1:c.3109A>C, XM_047435612.1:c.3109A>G, XM_047435596.1:c.3109A>C, XM_047435596.1:c.3109A>G, XM_047435606.1:c.3109A>C, XM_047435606.1:c.3109A>G, XM_047435618.1:c.3109A>C, XM_047435618.1:c.3109A>G, XM_047435619.1:c.3109A>C, XM_047435619.1:c.3109A>G, NP_004450.3:p.Ile1037Leu, NP_004450.3:p.Ile1037Val, NP_872579.2:p.Ile911Leu, NP_872579.2:p.Ile911Val, XP_011522826.1:p.Ile67Leu, XP_011522826.1:p.Ile67Val, XP_005257207.1:p.Ile1037Leu, XP_005257207.1:p.Ile1037Val, XP_005257208.1:p.Ile1036Leu, XP_005257208.1:p.Ile1036Val, XP_005257210.1:p.Ile1037Leu, XP_005257210.1:p.Ile1037Val, XP_005257211.1:p.Ile1037Leu, XP_005257211.1:p.Ile1037Val, XP_005257213.1:p.Ile974Leu, XP_005257213.1:p.Ile974Val, XP_005257212.1:p.Ile974Leu, XP_005257212.1:p.Ile974Val, XP_005257214.1:p.Ile973Leu, XP_005257214.1:p.Ile973Val, XP_005257215.1:p.Ile911Leu, XP_005257215.1:p.Ile911Val, XP_005257218.1:p.Ile1037Leu, XP_005257218.1:p.Ile1037Val, XP_005257209.1:p.Ile1037Leu, XP_005257209.1:p.Ile1037Val, XP_016879843.1:p.Ile206Leu, XP_016879843.1:p.Ile206Val, XP_011522822.1:p.Ile1036Leu, XP_011522822.1:p.Ile1036Val, XP_011522824.1:p.Ile910Leu, XP_011522824.1:p.Ile910Val, XP_005257216.1:p.Ile1037Leu, XP_005257216.1:p.Ile1037Val, XP_011522825.1:p.Ile910Leu, XP_011522825.1:p.Ile910Val, XP_016879842.1:p.Ile1037Leu, XP_016879842.1:p.Ile1037Val, XP_005257217.1:p.Ile1037Leu, XP_005257217.1:p.Ile1037Val, XP_011522827.1:p.Ile910Leu, XP_011522827.1:p.Ile910Val, XP_011522828.1:p.Ile910Leu, XP_011522828.1:p.Ile910Val, XP_024306414.1:p.Ile973Leu, XP_024306414.1:p.Ile973Val, XP_024306415.1:p.Ile1037Leu, XP_024306415.1:p.Ile1037Val, XP_047291576.1:p.Ile67Leu, XP_047291576.1:p.Ile67Val, XP_047291577.1:p.Ile67Leu, XP_047291577.1:p.Ile67Val, XP_047291553.1:p.Ile1037Leu, XP_047291553.1:p.Ile1037Val, XP_047291555.1:p.Ile974Leu, XP_047291555.1:p.Ile974Val, XP_047291554.1:p.Ile974Leu, XP_047291554.1:p.Ile974Val, XP_047291556.1:p.Ile973Leu, XP_047291556.1:p.Ile973Val, XP_047291559.1:p.Ile974Leu, XP_047291559.1:p.Ile974Val, XP_047291558.1:p.Ile974Leu, XP_047291558.1:p.Ile974Val, XP_047291560.1:p.Ile911Leu, XP_047291560.1:p.Ile911Val, XP_047291561.1:p.Ile974Leu, XP_047291561.1:p.Ile974Val, XP_047291557.1:p.Ile1037Leu, XP_047291557.1:p.Ile1037Val, XP_047291566.1:p.Ile974Leu, XP_047291566.1:p.Ile974Val, XP_047291565.1:p.Ile974Leu, XP_047291565.1:p.Ile974Val, XP_047291567.1:p.Ile973Leu, XP_047291567.1:p.Ile973Val, XP_047291569.1:p.Ile911Leu, XP_047291569.1:p.Ile911Val, XP_047291570.1:p.Ile974Leu, XP_047291570.1:p.Ile974Val, XP_047291571.1:p.Ile911Leu, XP_047291571.1:p.Ile911Val, XP_047291572.1:p.Ile910Leu, XP_047291572.1:p.Ile910Val, XP_047291563.1:p.Ile1037Leu, XP_047291563.1:p.Ile1037Val, XP_047291564.1:p.Ile911Leu, XP_047291564.1:p.Ile911Val, XP_047291573.1:p.Ile911Leu, XP_047291573.1:p.Ile911Val, XP_047291568.1:p.Ile1037Leu, XP_047291568.1:p.Ile1037Val, XP_047291552.1:p.Ile1037Leu, XP_047291552.1:p.Ile1037Val, XP_047291562.1:p.Ile1037Leu, XP_047291562.1:p.Ile1037Val, XP_047291574.1:p.Ile1037Leu, XP_047291574.1:p.Ile1037Val, XP_047291575.1:p.Ile1037Leu, XP_047291575.1:p.Ile1037Val

Select item 148730654411.

rs1487306544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67922888 (GRCh38)
17:65919004 (GRCh37)
Canonical SPDI:: NC_000017.11:67922887:C:T
Gene:: BPTF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67922888C>T, NC_000017.10:g.65919004C>T, NG_052828.1:g.102372C>T, NM_004459.7:c.5984C>T, NM_004459.6:c.5984C>T, NM_182641.4:c.5606C>T, NM_182641.3:c.5606C>T, XM_011524524.4:c.3074C>T, XM_011524524.3:c.3074C>T, XM_011524524.2:c.3074C>T, XM_011524524.1:c.3074C>T, XM_005257150.4:c.5984C>T, XM_005257150.3:c.5984C>T, XM_005257150.2:c.5984C>T, XM_005257150.1:c.5984C>T, XM_005257151.4:c.5981C>T, XM_005257151.3:c.5981C>T, XM_005257151.2:c.5981C>T, XM_005257151.1:c.5981C>T, XM_005257153.4:c.5984C>T, XM_005257153.3:c.5984C>T, XM_005257153.2:c.5984C>T, XM_005257153.1:c.5984C>T, XM_005257154.4:c.5984C>T, XM_005257154.3:c.5984C>T, XM_005257154.2:c.5984C>T, XM_005257154.1:c.5984C>T, XM_005257156.4:c.5795C>T, XM_005257156.3:c.5795C>T, XM_005257156.2:c.5795C>T, XM_005257156.1:c.5795C>T, XM_005257155.4:c.5795C>T, XM_005257155.3:c.5795C>T, XM_005257155.2:c.5795C>T, XM_005257155.1:c.5795C>T, XM_005257157.4:c.5792C>T, XM_005257157.3:c.5792C>T, XM_005257157.2:c.5792C>T, XM_005257157.1:c.5792C>T, XM_005257158.4:c.5606C>T, XM_005257158.3:c.5606C>T, XM_005257158.2:c.5606C>T, XM_005257158.1:c.5606C>T, XM_005257161.4:c.5984C>T, XM_005257161.3:c.5984C>T, XM_005257161.2:c.5984C>T, XM_005257161.1:c.5984C>T, XM_005257152.4:c.5984C>T, XM_005257152.3:c.5984C>T, XM_005257152.2:c.5984C>T, XM_005257152.1:c.5984C>T, XM_017024354.3:c.3491C>T, XM_017024354.2:c.3491C>T, XM_017024354.1:c.3491C>T, XM_011524520.3:c.5981C>T, XM_011524520.2:c.5981C>T, XM_011524520.1:c.5981C>T, XM_011524522.3:c.5603C>T, XM_011524522.2:c.5603C>T, XM_011524522.1:c.5603C>T, XM_005257159.3:c.5984C>T, XM_005257159.2:c.5984C>T, XM_005257159.1:c.5984C>T, XM_011524523.3:c.5603C>T, XM_011524523.2:c.5603C>T, XM_011524523.1:c.5603C>T, XM_017024353.3:c.5984C>T, XM_017024353.2:c.5984C>T, XM_017024353.1:c.5984C>T, XM_005257160.3:c.5984C>T, XM_005257160.2:c.5984C>T, XM_005257160.1:c.5984C>T, XM_011524525.3:c.5603C>T, XM_011524525.2:c.5603C>T, XM_011524525.1:c.5603C>T, XM_011524526.3:c.5603C>T, XM_011524526.2:c.5603C>T, XM_011524526.1:c.5603C>T, XM_024450646.2:c.5792C>T, XM_024450646.1:c.5792C>T, XM_024450647.2:c.5984C>T, XM_024450647.1:c.5984C>T, XM_047435620.1:c.3074C>T, XM_047435621.1:c.3074C>T, XM_047435597.1:c.5984C>T, XM_047435599.1:c.5795C>T, XM_047435598.1:c.5795C>T, XM_047435600.1:c.5792C>T, XM_047435603.1:c.5795C>T, XM_047435602.1:c.5795C>T, XM_047435604.1:c.5606C>T, XM_047435605.1:c.5795C>T, XM_047435601.1:c.5984C>T, XM_047435610.1:c.5795C>T, XM_047435609.1:c.5795C>T, XM_047435611.1:c.5792C>T, XM_047435613.1:c.5606C>T, XM_047435614.1:c.5795C>T, XM_047435615.1:c.5606C>T, XM_047435616.1:c.5603C>T, XM_047435607.1:c.5984C>T, XM_047435608.1:c.5606C>T, XM_047435617.1:c.5606C>T, XM_047435612.1:c.5984C>T, XM_047435596.1:c.5984C>T, XM_047435606.1:c.5984C>T, XM_047435618.1:c.5984C>T, XM_047435619.1:c.5984C>T, NP_004450.3:p.Pro1995Leu, NP_872579.2:p.Pro1869Leu, XP_011522826.1:p.Pro1025Leu, XP_005257207.1:p.Pro1995Leu, XP_005257208.1:p.Pro1994Leu, XP_005257210.1:p.Pro1995Leu, XP_005257211.1:p.Pro1995Leu, XP_005257213.1:p.Pro1932Leu, XP_005257212.1:p.Pro1932Leu, XP_005257214.1:p.Pro1931Leu, XP_005257215.1:p.Pro1869Leu, XP_005257218.1:p.Pro1995Leu, XP_005257209.1:p.Pro1995Leu, XP_016879843.1:p.Pro1164Leu, XP_011522822.1:p.Pro1994Leu, XP_011522824.1:p.Pro1868Leu, XP_005257216.1:p.Pro1995Leu, XP_011522825.1:p.Pro1868Leu, XP_016879842.1:p.Pro1995Leu, XP_005257217.1:p.Pro1995Leu, XP_011522827.1:p.Pro1868Leu, XP_011522828.1:p.Pro1868Leu, XP_024306414.1:p.Pro1931Leu, XP_024306415.1:p.Pro1995Leu, XP_047291576.1:p.Pro1025Leu, XP_047291577.1:p.Pro1025Leu, XP_047291553.1:p.Pro1995Leu, XP_047291555.1:p.Pro1932Leu, XP_047291554.1:p.Pro1932Leu, XP_047291556.1:p.Pro1931Leu, XP_047291559.1:p.Pro1932Leu, XP_047291558.1:p.Pro1932Leu, XP_047291560.1:p.Pro1869Leu, XP_047291561.1:p.Pro1932Leu, XP_047291557.1:p.Pro1995Leu, XP_047291566.1:p.Pro1932Leu, XP_047291565.1:p.Pro1932Leu, XP_047291567.1:p.Pro1931Leu, XP_047291569.1:p.Pro1869Leu, XP_047291570.1:p.Pro1932Leu, XP_047291571.1:p.Pro1869Leu, XP_047291572.1:p.Pro1868Leu, XP_047291563.1:p.Pro1995Leu, XP_047291564.1:p.Pro1869Leu, XP_047291573.1:p.Pro1869Leu, XP_047291568.1:p.Pro1995Leu, XP_047291552.1:p.Pro1995Leu, XP_047291562.1:p.Pro1995Leu, XP_047291574.1:p.Pro1995Leu, XP_047291575.1:p.Pro1995Leu

Select item 148707350012.

rs1487073500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:67854370 (GRCh38)
17:65850486 (GRCh37)
Canonical SPDI:: NC_000017.11:67854369:G:A
Gene:: BPTF (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.67854370G>A, NC_000017.10:g.65850486G>A, NG_052828.1:g.33854G>A, NM_004459.7:c.1044G>A, NM_004459.6:c.1044G>A, NM_182641.4:c.1044G>A, NM_182641.3:c.1044G>A, XM_005257150.4:c.1044G>A, XM_005257150.3:c.1044G>A, XM_005257150.2:c.1044G>A, XM_005257150.1:c.1044G>A, XM_005257151.4:c.1044G>A, XM_005257151.3:c.1044G>A, XM_005257151.2:c.1044G>A, XM_005257151.1:c.1044G>A, XM_005257153.4:c.1044G>A, XM_005257153.3:c.1044G>A, XM_005257153.2:c.1044G>A, XM_005257153.1:c.1044G>A, XM_005257154.4:c.1044G>A, XM_005257154.3:c.1044G>A, XM_005257154.2:c.1044G>A, XM_005257154.1:c.1044G>A, XM_005257156.4:c.1044G>A, XM_005257156.3:c.1044G>A, XM_005257156.2:c.1044G>A, XM_005257156.1:c.1044G>A, XM_005257155.4:c.1044G>A, XM_005257155.3:c.1044G>A, XM_005257155.2:c.1044G>A, XM_005257155.1:c.1044G>A, XM_005257157.4:c.1044G>A, XM_005257157.3:c.1044G>A, XM_005257157.2:c.1044G>A, XM_005257157.1:c.1044G>A, XM_005257158.4:c.1044G>A, XM_005257158.3:c.1044G>A, XM_005257158.2:c.1044G>A, XM_005257158.1:c.1044G>A, XM_005257161.4:c.1044G>A, XM_005257161.3:c.1044G>A, XM_005257161.2:c.1044G>A, XM_005257161.1:c.1044G>A, XM_005257152.4:c.1044G>A, XM_005257152.3:c.1044G>A, XM_005257152.2:c.1044G>A, XM_005257152.1:c.1044G>A, XM_011524520.3:c.1044G>A, XM_011524520.2:c.1044G>A, XM_011524520.1:c.1044G>A, XM_011524522.3:c.1044G>A, XM_011524522.2:c.1044G>A, XM_011524522.1:c.1044G>A, XM_005257159.3:c.1044G>A, XM_005257159.2:c.1044G>A, XM_005257159.1:c.1044G>A, XM_011524523.3:c.1044G>A, XM_011524523.2:c.1044G>A, XM_011524523.1:c.1044G>A, XM_017024353.3:c.1044G>A, XM_017024353.2:c.1044G>A, XM_017024353.1:c.1044G>A, XM_005257160.3:c.1044G>A, XM_005257160.2:c.1044G>A, XM_005257160.1:c.1044G>A, XM_011524525.3:c.1044G>A, XM_011524525.2:c.1044G>A, XM_011524525.1:c.1044G>A, XM_011524526.3:c.1044G>A, XM_011524526.2:c.1044G>A, XM_011524526.1:c.1044G>A, XM_024450646.2:c.1044G>A, XM_024450646.1:c.1044G>A, XM_024450647.2:c.1044G>A, XM_024450647.1:c.1044G>A, XM_047435597.1:c.1044G>A, XM_047435599.1:c.1044G>A, XM_047435598.1:c.1044G>A, XM_047435600.1:c.1044G>A, XM_047435603.1:c.1044G>A, XM_047435602.1:c.1044G>A, XM_047435604.1:c.1044G>A, XM_047435605.1:c.1044G>A, XM_047435601.1:c.1044G>A, XM_047435610.1:c.1044G>A, XM_047435609.1:c.1044G>A, XM_047435611.1:c.1044G>A, XM_047435613.1:c.1044G>A, XM_047435614.1:c.1044G>A, XM_047435615.1:c.1044G>A, XM_047435616.1:c.1044G>A, XM_047435607.1:c.1044G>A, XM_047435608.1:c.1044G>A, XM_047435617.1:c.1044G>A, XM_047435612.1:c.1044G>A, XM_047435596.1:c.1044G>A, XM_047435606.1:c.1044G>A, XM_047435618.1:c.1044G>A, XM_047435619.1:c.1044G>A

Select item 148672235113.

rs1486722351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:67912147 (GRCh38)
17:65908263 (GRCh37)
Canonical SPDI:: NC_000017.11:67912146:A:G
Gene:: BPTF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.67912147A>G, NC_000017.10:g.65908263A>G, NG_052828.1:g.91631A>G, NM_004459.7:c.4641A>G, NM_004459.6:c.4641A>G, NM_182641.4:c.4263A>G, NM_182641.3:c.4263A>G, XM_011524524.4:c.1731A>G, XM_011524524.3:c.1731A>G, XM_011524524.2:c.1731A>G, XM_011524524.1:c.1731A>G, XM_005257150.4:c.4641A>G, XM_005257150.3:c.4641A>G, XM_005257150.2:c.4641A>G, XM_005257150.1:c.4641A>G, XM_005257151.4:c.4638A>G, XM_005257151.3:c.4638A>G, XM_005257151.2:c.4638A>G, XM_005257151.1:c.4638A>G, XM_005257153.4:c.4641A>G, XM_005257153.3:c.4641A>G, XM_005257153.2:c.4641A>G, XM_005257153.1:c.4641A>G, XM_005257154.4:c.4641A>G, XM_005257154.3:c.4641A>G, XM_005257154.2:c.4641A>G, XM_005257154.1:c.4641A>G, XM_005257156.4:c.4452A>G, XM_005257156.3:c.4452A>G, XM_005257156.2:c.4452A>G, XM_005257156.1:c.4452A>G, XM_005257155.4:c.4452A>G, XM_005257155.3:c.4452A>G, XM_005257155.2:c.4452A>G, XM_005257155.1:c.4452A>G, XM_005257157.4:c.4449A>G, XM_005257157.3:c.4449A>G, XM_005257157.2:c.4449A>G, XM_005257157.1:c.4449A>G, XM_005257158.4:c.4263A>G, XM_005257158.3:c.4263A>G, XM_005257158.2:c.4263A>G, XM_005257158.1:c.4263A>G, XM_005257161.4:c.4641A>G, XM_005257161.3:c.4641A>G, XM_005257161.2:c.4641A>G, XM_005257161.1:c.4641A>G, XM_005257152.4:c.4641A>G, XM_005257152.3:c.4641A>G, XM_005257152.2:c.4641A>G, XM_005257152.1:c.4641A>G, XM_017024354.3:c.2148A>G, XM_017024354.2:c.2148A>G, XM_017024354.1:c.2148A>G, XM_011524520.3:c.4638A>G, XM_011524520.2:c.4638A>G, XM_011524520.1:c.4638A>G, XM_011524522.3:c.4260A>G, XM_011524522.2:c.4260A>G, XM_011524522.1:c.4260A>G, XM_005257159.3:c.4641A>G, XM_005257159.2:c.4641A>G, XM_005257159.1:c.4641A>G, XM_011524523.3:c.4260A>G, XM_011524523.2:c.4260A>G, XM_011524523.1:c.4260A>G, XM_017024353.3:c.4641A>G, XM_017024353.2:c.4641A>G, XM_017024353.1:c.4641A>G, XM_005257160.3:c.4641A>G, XM_005257160.2:c.4641A>G, XM_005257160.1:c.4641A>G, XM_011524525.3:c.4260A>G, XM_011524525.2:c.4260A>G, XM_011524525.1:c.4260A>G, XM_011524526.3:c.4260A>G, XM_011524526.2:c.4260A>G, XM_011524526.1:c.4260A>G, XM_024450646.2:c.4449A>G, XM_024450646.1:c.4449A>G, XM_024450647.2:c.4641A>G, XM_024450647.1:c.4641A>G, XM_047435620.1:c.1731A>G, XM_047435621.1:c.1731A>G, XM_047435597.1:c.4641A>G, XM_047435599.1:c.4452A>G, XM_047435598.1:c.4452A>G, XM_047435600.1:c.4449A>G, XM_047435603.1:c.4452A>G, XM_047435602.1:c.4452A>G, XM_047435604.1:c.4263A>G, XM_047435605.1:c.4452A>G, XM_047435601.1:c.4641A>G, XM_047435610.1:c.4452A>G, XM_047435609.1:c.4452A>G, XM_047435611.1:c.4449A>G, XM_047435613.1:c.4263A>G, XM_047435614.1:c.4452A>G, XM_047435615.1:c.4263A>G, XM_047435616.1:c.4260A>G, XM_047435607.1:c.4641A>G, XM_047435608.1:c.4263A>G, XM_047435617.1:c.4263A>G, XM_047435612.1:c.4641A>G, XM_047435596.1:c.4641A>G, XM_047435606.1:c.4641A>G, XM_047435618.1:c.4641A>G, XM_047435619.1:c.4641A>G

Select item 148659759414.

rs1486597594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:67932014 (GRCh38)
17:65928130 (GRCh37)
Canonical SPDI:: NC_000017.11:67932013:A:G
Gene:: BPTF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.67932014A>G, NC_000017.10:g.65928130A>G, NG_052828.1:g.111498A>G, NM_004459.7:c.6632A>G, NM_004459.6:c.6632A>G, NM_182641.4:c.6254A>G, NM_182641.3:c.6254A>G, XM_011524524.4:c.3884A>G, XM_011524524.3:c.3884A>G, XM_011524524.2:c.3884A>G, XM_011524524.1:c.3884A>G, XM_005257150.4:c.6794A>G, XM_005257150.3:c.6794A>G, XM_005257150.2:c.6794A>G, XM_005257150.1:c.6794A>G, XM_005257151.4:c.6791A>G, XM_005257151.3:c.6791A>G, XM_005257151.2:c.6791A>G, XM_005257151.1:c.6791A>G, XM_005257153.4:c.6632A>G, XM_005257153.3:c.6632A>G, XM_005257153.2:c.6632A>G, XM_005257153.1:c.6632A>G, XM_005257154.4:c.6794A>G, XM_005257154.3:c.6794A>G, XM_005257154.2:c.6794A>G, XM_005257154.1:c.6794A>G, XM_005257156.4:c.6605A>G, XM_005257156.3:c.6605A>G, XM_005257156.2:c.6605A>G, XM_005257156.1:c.6605A>G, XM_005257155.4:c.6605A>G, XM_005257155.3:c.6605A>G, XM_005257155.2:c.6605A>G, XM_005257155.1:c.6605A>G, XM_005257157.4:c.6602A>G, XM_005257157.3:c.6602A>G, XM_005257157.2:c.6602A>G, XM_005257157.1:c.6602A>G, XM_005257158.4:c.6416A>G, XM_005257158.3:c.6416A>G, XM_005257158.2:c.6416A>G, XM_005257158.1:c.6416A>G, XM_005257161.4:c.6794A>G, XM_005257161.3:c.6794A>G, XM_005257161.2:c.6794A>G, XM_005257161.1:c.6794A>G, XM_005257152.4:c.6794A>G, XM_005257152.3:c.6794A>G, XM_005257152.2:c.6794A>G, XM_005257152.1:c.6794A>G, XM_017024354.3:c.4301A>G, XM_017024354.2:c.4301A>G, XM_017024354.1:c.4301A>G, XM_011524520.3:c.6791A>G, XM_011524520.2:c.6791A>G, XM_011524520.1:c.6791A>G, XM_011524522.3:c.6413A>G, XM_011524522.2:c.6413A>G, XM_011524522.1:c.6413A>G, XM_005257159.3:c.6794A>G, XM_005257159.2:c.6794A>G, XM_005257159.1:c.6794A>G, XM_011524523.3:c.6251A>G, XM_011524523.2:c.6251A>G, XM_011524523.1:c.6251A>G, XM_017024353.3:c.6794A>G, XM_017024353.2:c.6794A>G, XM_017024353.1:c.6794A>G, XM_005257160.3:c.6632A>G, XM_005257160.2:c.6632A>G, XM_005257160.1:c.6632A>G, XM_011524525.3:c.6251A>G, XM_011524525.2:c.6251A>G, XM_011524525.1:c.6251A>G, XM_011524526.3:c.6251A>G, XM_011524526.2:c.6251A>G, XM_011524526.1:c.6251A>G, XM_024450646.2:c.6602A>G, XM_024450646.1:c.6602A>G, XM_024450647.2:c.6794A>G, XM_024450647.1:c.6794A>G, XM_047435620.1:c.3722A>G, XM_047435621.1:c.3722A>G, XM_047435597.1:c.6632A>G, XM_047435599.1:c.6443A>G, XM_047435598.1:c.6443A>G, XM_047435600.1:c.6440A>G, XM_047435603.1:c.6443A>G, XM_047435602.1:c.6443A>G, XM_047435604.1:c.6254A>G, XM_047435605.1:c.6605A>G, XM_047435601.1:c.6632A>G, XM_047435610.1:c.6443A>G, XM_047435609.1:c.6443A>G, XM_047435611.1:c.6440A>G, XM_047435613.1:c.6416A>G, XM_047435614.1:c.6443A>G, XM_047435615.1:c.6254A>G, XM_047435616.1:c.6251A>G, XM_047435607.1:c.6794A>G, XM_047435608.1:c.6254A>G, XM_047435617.1:c.6254A>G, XM_047435612.1:c.6632A>G, XM_047435596.1:c.6632A>G, XM_047435606.1:c.6632A>G, XM_047435618.1:c.6794A>G, XM_047435619.1:c.6632A>G, NP_004450.3:p.Gln2211Arg, NP_872579.2:p.Gln2085Arg, XP_011522826.1:p.Gln1295Arg, XP_005257207.1:p.Gln2265Arg, XP_005257208.1:p.Gln2264Arg, XP_005257210.1:p.Gln2211Arg, XP_005257211.1:p.Gln2265Arg, XP_005257213.1:p.Gln2202Arg, XP_005257212.1:p.Gln2202Arg, XP_005257214.1:p.Gln2201Arg, XP_005257215.1:p.Gln2139Arg, XP_005257218.1:p.Gln2265Arg, XP_005257209.1:p.Gln2265Arg, XP_016879843.1:p.Gln1434Arg, XP_011522822.1:p.Gln2264Arg, XP_011522824.1:p.Gln2138Arg, XP_005257216.1:p.Gln2265Arg, XP_011522825.1:p.Gln2084Arg, XP_016879842.1:p.Gln2265Arg, XP_005257217.1:p.Gln2211Arg, XP_011522827.1:p.Gln2084Arg, XP_011522828.1:p.Gln2084Arg, XP_024306414.1:p.Gln2201Arg, XP_024306415.1:p.Gln2265Arg, XP_047291576.1:p.Gln1241Arg, XP_047291577.1:p.Gln1241Arg, XP_047291553.1:p.Gln2211Arg, XP_047291555.1:p.Gln2148Arg, XP_047291554.1:p.Gln2148Arg, XP_047291556.1:p.Gln2147Arg, XP_047291559.1:p.Gln2148Arg, XP_047291558.1:p.Gln2148Arg, XP_047291560.1:p.Gln2085Arg, XP_047291561.1:p.Gln2202Arg, XP_047291557.1:p.Gln2211Arg, XP_047291566.1:p.Gln2148Arg, XP_047291565.1:p.Gln2148Arg, XP_047291567.1:p.Gln2147Arg, XP_047291569.1:p.Gln2139Arg, XP_047291570.1:p.Gln2148Arg, XP_047291571.1:p.Gln2085Arg, XP_047291572.1:p.Gln2084Arg, XP_047291563.1:p.Gln2265Arg, XP_047291564.1:p.Gln2085Arg, XP_047291573.1:p.Gln2085Arg, XP_047291568.1:p.Gln2211Arg, XP_047291552.1:p.Gln2211Arg, XP_047291562.1:p.Gln2211Arg, XP_047291574.1:p.Gln2265Arg, XP_047291575.1:p.Gln2211Arg

Select item 148563153615.

rs1485631536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:67945660 (GRCh38)
17:65941776 (GRCh37)
Canonical SPDI:: NC_000017.11:67945659:G:A
Gene:: BPTF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.67945660G>A, NC_000017.10:g.65941776G>A, NG_052828.1:g.125144G>A, NM_004459.7:c.7330G>A, NM_004459.6:c.7330G>A, NM_182641.4:c.6952G>A, NM_182641.3:c.6952G>A, NW_003871088.1:g.5671G>A, XM_011524524.4:c.4582G>A, XM_011524524.3:c.4582G>A, XM_011524524.2:c.4582G>A, XM_011524524.1:c.4582G>A, XM_005257150.4:c.7492G>A, XM_005257150.3:c.7492G>A, XM_005257150.2:c.7492G>A, XM_005257150.1:c.7492G>A, XM_005257151.4:c.7489G>A, XM_005257151.3:c.7489G>A, XM_005257151.2:c.7489G>A, XM_005257151.1:c.7489G>A, XM_005257153.4:c.7330G>A, XM_005257153.3:c.7330G>A, XM_005257153.2:c.7330G>A, XM_005257153.1:c.7330G>A, XM_005257154.4:c.7492G>A, XM_005257154.3:c.7492G>A, XM_005257154.2:c.7492G>A, XM_005257154.1:c.7492G>A, XM_005257156.4:c.7303G>A, XM_005257156.3:c.7303G>A, XM_005257156.2:c.7303G>A, XM_005257156.1:c.7303G>A, XM_005257155.4:c.7303G>A, XM_005257155.3:c.7303G>A, XM_005257155.2:c.7303G>A, XM_005257155.1:c.7303G>A, XM_005257157.4:c.7300G>A, XM_005257157.3:c.7300G>A, XM_005257157.2:c.7300G>A, XM_005257157.1:c.7300G>A, XM_005257158.4:c.7114G>A, XM_005257158.3:c.7114G>A, XM_005257158.2:c.7114G>A, XM_005257158.1:c.7114G>A, XM_005257161.4:c.7492G>A, XM_005257161.3:c.7492G>A, XM_005257161.2:c.7492G>A, XM_005257161.1:c.7492G>A, XM_005257152.4:c.7492G>A, XM_005257152.3:c.7492G>A, XM_005257152.2:c.7492G>A, XM_005257152.1:c.7492G>A, XM_017024354.3:c.4999G>A, XM_017024354.2:c.4999G>A, XM_017024354.1:c.4999G>A, XM_011524520.3:c.7489G>A, XM_011524520.2:c.7489G>A, XM_011524520.1:c.7489G>A, XM_011524522.3:c.7111G>A, XM_011524522.2:c.7111G>A, XM_011524522.1:c.7111G>A, XM_005257159.3:c.7492G>A, XM_005257159.2:c.7492G>A, XM_005257159.1:c.7492G>A, XM_011524523.3:c.6949G>A, XM_011524523.2:c.6949G>A, XM_011524523.1:c.6949G>A, XM_017024353.3:c.7492G>A, XM_017024353.2:c.7492G>A, XM_017024353.1:c.7492G>A, XM_005257160.3:c.7330G>A, XM_005257160.2:c.7330G>A, XM_005257160.1:c.7330G>A, XM_011524525.3:c.6949G>A, XM_011524525.2:c.6949G>A, XM_011524525.1:c.6949G>A, XM_011524526.3:c.6949G>A, XM_011524526.2:c.6949G>A, XM_011524526.1:c.6949G>A, XM_024450646.2:c.7300G>A, XM_024450646.1:c.7300G>A, XM_024450647.2:c.7492G>A, XM_024450647.1:c.7492G>A, XM_047435620.1:c.4420G>A, XM_047435621.1:c.4420G>A, XM_047435597.1:c.7330G>A, XM_047435599.1:c.7141G>A, XM_047435598.1:c.7141G>A, XM_047435600.1:c.7138G>A, XM_047435603.1:c.7141G>A, XM_047435602.1:c.7141G>A, XM_047435604.1:c.6952G>A, XM_047435605.1:c.7303G>A, XM_047435601.1:c.7330G>A, XM_047435610.1:c.7141G>A, XM_047435609.1:c.7141G>A, XM_047435611.1:c.7138G>A, XM_047435613.1:c.7114G>A, XM_047435614.1:c.7141G>A, XM_047435615.1:c.6952G>A, XM_047435616.1:c.6949G>A, XM_047435607.1:c.7492G>A, XM_047435608.1:c.6952G>A, XM_047435617.1:c.6952G>A, XM_047435612.1:c.7330G>A, XM_047435596.1:c.7330G>A, XM_047435606.1:c.7330G>A, NP_004450.3:p.Ala2444Thr, NP_872579.2:p.Ala2318Thr, XP_011522826.1:p.Ala1528Thr, XP_005257207.1:p.Ala2498Thr, XP_005257208.1:p.Ala2497Thr, XP_005257210.1:p.Ala2444Thr, XP_005257211.1:p.Ala2498Thr, XP_005257213.1:p.Ala2435Thr, XP_005257212.1:p.Ala2435Thr, XP_005257214.1:p.Ala2434Thr, XP_005257215.1:p.Ala2372Thr, XP_005257218.1:p.Ala2498Thr, XP_005257209.1:p.Ala2498Thr, XP_016879843.1:p.Ala1667Thr, XP_011522822.1:p.Ala2497Thr, XP_011522824.1:p.Ala2371Thr, XP_005257216.1:p.Ala2498Thr, XP_011522825.1:p.Ala2317Thr, XP_016879842.1:p.Ala2498Thr, XP_005257217.1:p.Ala2444Thr, XP_011522827.1:p.Ala2317Thr, XP_011522828.1:p.Ala2317Thr, XP_024306414.1:p.Ala2434Thr, XP_024306415.1:p.Ala2498Thr, XP_047291576.1:p.Ala1474Thr, XP_047291577.1:p.Ala1474Thr, XP_047291553.1:p.Ala2444Thr, XP_047291555.1:p.Ala2381Thr, XP_047291554.1:p.Ala2381Thr, XP_047291556.1:p.Ala2380Thr, XP_047291559.1:p.Ala2381Thr, XP_047291558.1:p.Ala2381Thr, XP_047291560.1:p.Ala2318Thr, XP_047291561.1:p.Ala2435Thr, XP_047291557.1:p.Ala2444Thr, XP_047291566.1:p.Ala2381Thr, XP_047291565.1:p.Ala2381Thr, XP_047291567.1:p.Ala2380Thr, XP_047291569.1:p.Ala2372Thr, XP_047291570.1:p.Ala2381Thr, XP_047291571.1:p.Ala2318Thr, XP_047291572.1:p.Ala2317Thr, XP_047291563.1:p.Ala2498Thr, XP_047291564.1:p.Ala2318Thr, XP_047291573.1:p.Ala2318Thr, XP_047291568.1:p.Ala2444Thr, XP_047291552.1:p.Ala2444Thr, XP_047291562.1:p.Ala2444Thr

Select item 148547994916.

rs1485479949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:67946184 (GRCh38)
17:65942300 (GRCh37)
Canonical SPDI:: NC_000017.11:67946183:G:A
Gene:: BPTF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_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_000017.11:g.67946184G>A, NC_000017.10:g.65942300G>A, NG_052828.1:g.125668G>A, NM_182641.4:c.7476G>A, NM_182641.3:c.7476G>A, NW_003871088.1:g.6195G>A, XM_011524524.4:c.5106G>A, XM_011524524.3:c.5106G>A, XM_011524524.2:c.5106G>A, XM_011524524.1:c.5106G>A, XM_005257150.4:c.8016G>A, XM_005257150.3:c.8016G>A, XM_005257150.2:c.8016G>A, XM_005257150.1:c.8016G>A, XM_005257151.4:c.8013G>A, XM_005257151.3:c.8013G>A, XM_005257151.2:c.8013G>A, XM_005257151.1:c.8013G>A, XM_005257153.4:c.7854G>A, XM_005257153.3:c.7854G>A, XM_005257153.2:c.7854G>A, XM_005257153.1:c.7854G>A, XM_005257154.4:c.8016G>A, XM_005257154.3:c.8016G>A, XM_005257154.2:c.8016G>A, XM_005257154.1:c.8016G>A, XM_005257156.4:c.7827G>A, XM_005257156.3:c.7827G>A, XM_005257156.2:c.7827G>A, XM_005257156.1:c.7827G>A, XM_005257155.4:c.7827G>A, XM_005257155.3:c.7827G>A, XM_005257155.2:c.7827G>A, XM_005257155.1:c.7827G>A, XM_005257157.4:c.7824G>A, XM_005257157.3:c.7824G>A, XM_005257157.2:c.7824G>A, XM_005257157.1:c.7824G>A, XM_005257158.4:c.7638G>A, XM_005257158.3:c.7638G>A, XM_005257158.2:c.7638G>A, XM_005257158.1:c.7638G>A, XM_005257152.4:c.8016G>A, XM_005257152.3:c.8016G>A, XM_005257152.2:c.8016G>A, XM_005257152.1:c.8016G>A, XM_017024354.3:c.5523G>A, XM_017024354.2:c.5523G>A, XM_017024354.1:c.5523G>A, XM_011524520.3:c.8013G>A, XM_011524520.2:c.8013G>A, XM_011524520.1:c.8013G>A, XM_011524522.3:c.7635G>A, XM_011524522.2:c.7635G>A, XM_011524522.1:c.7635G>A, XM_011524523.3:c.7473G>A, XM_011524523.2:c.7473G>A, XM_011524523.1:c.7473G>A, XM_017024353.3:c.8016G>A, XM_017024353.2:c.8016G>A, XM_017024353.1:c.8016G>A, XM_011524525.3:c.7473G>A, XM_011524525.2:c.7473G>A, XM_011524525.1:c.7473G>A, XM_024450646.2:c.7824G>A, XM_024450646.1:c.7824G>A, XM_047435620.1:c.4944G>A, XM_047435597.1:c.7854G>A, XM_047435599.1:c.7665G>A, XM_047435598.1:c.7665G>A, XM_047435600.1:c.7662G>A, XM_047435603.1:c.7665G>A, XM_047435602.1:c.7665G>A, XM_047435604.1:c.7476G>A, XM_047435601.1:c.7854G>A, XM_047435608.1:c.7476G>A, XM_047435596.1:c.7854G>A

Select item 148535185417.

rs1485351854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67928977 (GRCh38)
17:65925093 (GRCh37)
Canonical SPDI:: NC_000017.11:67928976:C:T
Gene:: BPTF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.67928977C>T, NC_000017.10:g.65925093C>T, NG_052828.1:g.108461C>T, XM_011524524.4:c.3485C>T, XM_011524524.3:c.3485C>T, XM_011524524.2:c.3485C>T, XM_011524524.1:c.3485C>T, XM_005257150.4:c.6395C>T, XM_005257150.3:c.6395C>T, XM_005257150.2:c.6395C>T, XM_005257150.1:c.6395C>T, XM_005257151.4:c.6392C>T, XM_005257151.3:c.6392C>T, XM_005257151.2:c.6392C>T, XM_005257151.1:c.6392C>T, XM_005257154.4:c.6395C>T, XM_005257154.3:c.6395C>T, XM_005257154.2:c.6395C>T, XM_005257154.1:c.6395C>T, XM_005257156.4:c.6206C>T, XM_005257156.3:c.6206C>T, XM_005257156.2:c.6206C>T, XM_005257156.1:c.6206C>T, XM_005257155.4:c.6206C>T, XM_005257155.3:c.6206C>T, XM_005257155.2:c.6206C>T, XM_005257155.1:c.6206C>T, XM_005257157.4:c.6203C>T, XM_005257157.3:c.6203C>T, XM_005257157.2:c.6203C>T, XM_005257157.1:c.6203C>T, XM_005257158.4:c.6017C>T, XM_005257158.3:c.6017C>T, XM_005257158.2:c.6017C>T, XM_005257158.1:c.6017C>T, XM_005257161.4:c.6395C>T, XM_005257161.3:c.6395C>T, XM_005257161.2:c.6395C>T, XM_005257161.1:c.6395C>T, XM_005257152.4:c.6395C>T, XM_005257152.3:c.6395C>T, XM_005257152.2:c.6395C>T, XM_005257152.1:c.6395C>T, XM_017024354.3:c.3902C>T, XM_017024354.2:c.3902C>T, XM_017024354.1:c.3902C>T, XM_011524520.3:c.6392C>T, XM_011524520.2:c.6392C>T, XM_011524520.1:c.6392C>T, XM_011524522.3:c.6014C>T, XM_011524522.2:c.6014C>T, XM_011524522.1:c.6014C>T, XM_005257159.3:c.6395C>T, XM_005257159.2:c.6395C>T, XM_005257159.1:c.6395C>T, XM_017024353.3:c.6395C>T, XM_017024353.2:c.6395C>T, XM_017024353.1:c.6395C>T, XM_024450646.2:c.6203C>T, XM_024450646.1:c.6203C>T, XM_024450647.2:c.6395C>T, XM_024450647.1:c.6395C>T, XM_047435605.1:c.6206C>T, XM_047435613.1:c.6017C>T, XM_047435607.1:c.6395C>T, XM_047435618.1:c.6395C>T, XP_011522826.1:p.Thr1162Ile, XP_005257207.1:p.Thr2132Ile, XP_005257208.1:p.Thr2131Ile, XP_005257211.1:p.Thr2132Ile, XP_005257213.1:p.Thr2069Ile, XP_005257212.1:p.Thr2069Ile, XP_005257214.1:p.Thr2068Ile, XP_005257215.1:p.Thr2006Ile, XP_005257218.1:p.Thr2132Ile, XP_005257209.1:p.Thr2132Ile, XP_016879843.1:p.Thr1301Ile, XP_011522822.1:p.Thr2131Ile, XP_011522824.1:p.Thr2005Ile, XP_005257216.1:p.Thr2132Ile, XP_016879842.1:p.Thr2132Ile, XP_024306414.1:p.Thr2068Ile, XP_024306415.1:p.Thr2132Ile, XP_047291561.1:p.Thr2069Ile, XP_047291569.1:p.Thr2006Ile, XP_047291563.1:p.Thr2132Ile, XP_047291574.1:p.Thr2132Ile

Select item 148507436818.

rs1485074368 has merged into rs946849136 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGC>-,GGCGGC,GGCGGCGGC [Show Flanks]
Chromosome:: 17:67826049 (GRCh38)
17:65822165 (GRCh37)
Canonical SPDI:: NC_000017.11:67826039:GGCGGCGGCGGC:GGCGGCGGC,NC_000017.11:67826039:GGCGGCGGCGGC:GGCGGCGGCGGCGGC,NC_000017.11:67826039:GGCGGCGGCGGC:GGCGGCGGCGGCGGCGGC
Gene:: BPTF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,inframe_insertion,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGGCGGCGGCGGCGGC=0./0 (ALFA)
GGCGGC=0.000015/2 (GnomAD)
GGCGGC=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.67826040GGC[3], NC_000017.11:g.67826040GGC[5], NC_000017.11:g.67826040GGC[6], NC_000017.10:g.65822156GGC[3], NC_000017.10:g.65822156GGC[5], NC_000017.10:g.65822156GGC[6], NG_052828.1:g.5524GGC[3], NG_052828.1:g.5524GGC[5], NG_052828.1:g.5524GGC[6], NM_004459.7:c.316GGC[3], NM_004459.7:c.316GGC[5], NM_004459.7:c.316GGC[6], NM_004459.6:c.316GGC[3], NM_004459.6:c.316GGC[5], NM_004459.6:c.316GGC[6], NM_182641.4:c.316GGC[3], NM_182641.4:c.316GGC[5], NM_182641.4:c.316GGC[6], NM_182641.3:c.316GGC[3], NM_182641.3:c.316GGC[5], NM_182641.3:c.316GGC[6], XM_005257150.4:c.316GGC[3], XM_005257150.4:c.316GGC[5], XM_005257150.4:c.316GGC[6], XM_005257150.3:c.316GGC[3], XM_005257150.3:c.316GGC[5], XM_005257150.3:c.316GGC[6], XM_005257150.2:c.316GGC[3], XM_005257150.2:c.316GGC[5], XM_005257150.2:c.316GGC[6], XM_005257150.1:c.316GGC[3], XM_005257150.1:c.316GGC[5], XM_005257150.1:c.316GGC[6], XM_005257151.4:c.316GGC[3], XM_005257151.4:c.316GGC[5], XM_005257151.4:c.316GGC[6], XM_005257151.3:c.316GGC[3], XM_005257151.3:c.316GGC[5], XM_005257151.3:c.316GGC[6], XM_005257151.2:c.316GGC[3], XM_005257151.2:c.316GGC[5], XM_005257151.2:c.316GGC[6], XM_005257151.1:c.316GGC[3], XM_005257151.1:c.316GGC[5], XM_005257151.1:c.316GGC[6], XM_005257153.4:c.316GGC[3], XM_005257153.4:c.316GGC[5], XM_005257153.4:c.316GGC[6], XM_005257153.3:c.316GGC[3], XM_005257153.3:c.316GGC[5], XM_005257153.3:c.316GGC[6], XM_005257153.2:c.316GGC[3], XM_005257153.2:c.316GGC[5], XM_005257153.2:c.316GGC[6], XM_005257153.1:c.316GGC[3], XM_005257153.1:c.316GGC[5], XM_005257153.1:c.316GGC[6], XM_005257154.4:c.316GGC[3], XM_005257154.4:c.316GGC[5], XM_005257154.4:c.316GGC[6], XM_005257154.3:c.316GGC[3], XM_005257154.3:c.316GGC[5], XM_005257154.3:c.316GGC[6], XM_005257154.2:c.316GGC[3], XM_005257154.2:c.316GGC[5], XM_005257154.2:c.316GGC[6], XM_005257154.1:c.316GGC[3], XM_005257154.1:c.316GGC[5], XM_005257154.1:c.316GGC[6], XM_005257156.4:c.316GGC[3], XM_005257156.4:c.316GGC[5], XM_005257156.4:c.316GGC[6], XM_005257156.3:c.316GGC[3], XM_005257156.3:c.316GGC[5], XM_005257156.3:c.316GGC[6], XM_005257156.2:c.316GGC[3], XM_005257156.2:c.316GGC[5], XM_005257156.2:c.316GGC[6], XM_005257156.1:c.316GGC[3], XM_005257156.1:c.316GGC[5], XM_005257156.1:c.316GGC[6], XM_005257155.4:c.316GGC[3], XM_005257155.4:c.316GGC[5], XM_005257155.4:c.316GGC[6], XM_005257155.3:c.316GGC[3], XM_005257155.3:c.316GGC[5], XM_005257155.3:c.316GGC[6], XM_005257155.2:c.316GGC[3], XM_005257155.2:c.316GGC[5], XM_005257155.2:c.316GGC[6], XM_005257155.1:c.316GGC[3], XM_005257155.1:c.316GGC[5], XM_005257155.1:c.316GGC[6], XM_005257157.4:c.316GGC[3], XM_005257157.4:c.316GGC[5], XM_005257157.4:c.316GGC[6], XM_005257157.3:c.316GGC[3], XM_005257157.3:c.316GGC[5], XM_005257157.3:c.316GGC[6], XM_005257157.2:c.316GGC[3], XM_005257157.2:c.316GGC[5], XM_005257157.2:c.316GGC[6], XM_005257157.1:c.316GGC[3], XM_005257157.1:c.316GGC[5], XM_005257157.1:c.316GGC[6], XM_005257158.4:c.316GGC[3], XM_005257158.4:c.316GGC[5], XM_005257158.4:c.316GGC[6], XM_005257158.3:c.316GGC[3], XM_005257158.3:c.316GGC[5], XM_005257158.3:c.316GGC[6], XM_005257158.2:c.316GGC[3], XM_005257158.2:c.316GGC[5], XM_005257158.2:c.316GGC[6], XM_005257158.1:c.316GGC[3], XM_005257158.1:c.316GGC[5], XM_005257158.1:c.316GGC[6], XM_005257161.4:c.316GGC[3], XM_005257161.4:c.316GGC[5], XM_005257161.4:c.316GGC[6], XM_005257161.3:c.316GGC[3], XM_005257161.3:c.316GGC[5], XM_005257161.3:c.316GGC[6], XM_005257161.2:c.316GGC[3], XM_005257161.2:c.316GGC[5], XM_005257161.2:c.316GGC[6], XM_005257161.1:c.316GGC[3], XM_005257161.1:c.316GGC[5], XM_005257161.1:c.316GGC[6], XM_005257152.4:c.316GGC[3], XM_005257152.4:c.316GGC[5], XM_005257152.4:c.316GGC[6], XM_005257152.3:c.316GGC[3], XM_005257152.3:c.316GGC[5], XM_005257152.3:c.316GGC[6], XM_005257152.2:c.316GGC[3], XM_005257152.2:c.316GGC[5], XM_005257152.2:c.316GGC[6], XM_005257152.1:c.316GGC[3], XM_005257152.1:c.316GGC[5], XM_005257152.1:c.316GGC[6], XM_011524520.3:c.316GGC[3], XM_011524520.3:c.316GGC[5], XM_011524520.3:c.316GGC[6], XM_011524520.2:c.316GGC[3], XM_011524520.2:c.316GGC[5], XM_011524520.2:c.316GGC[6], XM_011524520.1:c.316GGC[3], XM_011524520.1:c.316GGC[5], XM_011524520.1:c.316GGC[6], XM_011524522.3:c.316GGC[3], XM_011524522.3:c.316GGC[5], XM_011524522.3:c.316GGC[6], XM_011524522.2:c.316GGC[3], XM_011524522.2:c.316GGC[5], XM_011524522.2:c.316GGC[6], XM_011524522.1:c.316GGC[3], XM_011524522.1:c.316GGC[5], XM_011524522.1:c.316GGC[6], XM_005257159.3:c.316GGC[3], XM_005257159.3:c.316GGC[5], XM_005257159.3:c.316GGC[6], XM_005257159.2:c.316GGC[3], XM_005257159.2:c.316GGC[5], XM_005257159.2:c.316GGC[6], XM_005257159.1:c.316GGC[3], XM_005257159.1:c.316GGC[5], XM_005257159.1:c.316GGC[6], XM_011524523.3:c.316GGC[3], XM_011524523.3:c.316GGC[5], XM_011524523.3:c.316GGC[6], XM_011524523.2:c.316GGC[3], XM_011524523.2:c.316GGC[5], XM_011524523.2:c.316GGC[6], XM_011524523.1:c.316GGC[3], XM_011524523.1:c.316GGC[5], XM_011524523.1:c.316GGC[6], XM_017024353.3:c.316GGC[3], XM_017024353.3:c.316GGC[5], XM_017024353.3:c.316GGC[6], XM_017024353.2:c.316GGC[3], XM_017024353.2:c.316GGC[5], XM_017024353.2:c.316GGC[6], XM_017024353.1:c.316GGC[3], XM_017024353.1:c.316GGC[5], XM_017024353.1:c.316GGC[6], XM_005257160.3:c.316GGC[3], XM_005257160.3:c.316GGC[5], XM_005257160.3:c.316GGC[6], XM_005257160.2:c.316GGC[3], XM_005257160.2:c.316GGC[5], XM_005257160.2:c.316GGC[6], XM_005257160.1:c.316GGC[3], XM_005257160.1:c.316GGC[5], XM_005257160.1:c.316GGC[6], XM_011524525.3:c.316GGC[3], XM_011524525.3:c.316GGC[5], XM_011524525.3:c.316GGC[6], XM_011524525.2:c.316GGC[3], XM_011524525.2:c.316GGC[5], XM_011524525.2:c.316GGC[6], XM_011524525.1:c.316GGC[3], XM_011524525.1:c.316GGC[5], XM_011524525.1:c.316GGC[6], XM_011524526.3:c.316GGC[3], XM_011524526.3:c.316GGC[5], XM_011524526.3:c.316GGC[6], XM_011524526.2:c.316GGC[3], XM_011524526.2:c.316GGC[5], XM_011524526.2:c.316GGC[6], XM_011524526.1:c.316GGC[3], XM_011524526.1:c.316GGC[5], XM_011524526.1:c.316GGC[6], XM_024450646.2:c.316GGC[3], XM_024450646.2:c.316GGC[5], XM_024450646.2:c.316GGC[6], XM_024450646.1:c.316GGC[3], XM_024450646.1:c.316GGC[5], XM_024450646.1:c.316GGC[6], XM_024450647.2:c.316GGC[3], XM_024450647.2:c.316GGC[5], XM_024450647.2:c.316GGC[6], XM_024450647.1:c.316GGC[3], XM_024450647.1:c.316GGC[5], XM_024450647.1:c.316GGC[6], XM_047435597.1:c.316GGC[3], XM_047435597.1:c.316GGC[5], XM_047435597.1:c.316GGC[6], XM_047435599.1:c.316GGC[3], XM_047435599.1:c.316GGC[5], XM_047435599.1:c.316GGC[6], XM_047435598.1:c.316GGC[3], XM_047435598.1:c.316GGC[5], XM_047435598.1:c.316GGC[6], XM_047435600.1:c.316GGC[3], XM_047435600.1:c.316GGC[5], XM_047435600.1:c.316GGC[6], XM_047435603.1:c.316GGC[3], XM_047435603.1:c.316GGC[5], XM_047435603.1:c.316GGC[6], XM_047435602.1:c.316GGC[3], XM_047435602.1:c.316GGC[5], XM_047435602.1:c.316GGC[6], XM_047435604.1:c.316GGC[3], XM_047435604.1:c.316GGC[5], XM_047435604.1:c.316GGC[6], XM_047435605.1:c.316GGC[3], XM_047435605.1:c.316GGC[5], XM_047435605.1:c.316GGC[6], XM_047435601.1:c.316GGC[3], XM_047435601.1:c.316GGC[5], XM_047435601.1:c.316GGC[6], XM_047435610.1:c.316GGC[3], XM_047435610.1:c.316GGC[5], XM_047435610.1:c.316GGC[6], XM_047435609.1:c.316GGC[3], XM_047435609.1:c.316GGC[5], XM_047435609.1:c.316GGC[6], XM_047435611.1:c.316GGC[3], XM_047435611.1:c.316GGC[5], XM_047435611.1:c.316GGC[6], XM_047435613.1:c.316GGC[3], XM_047435613.1:c.316GGC[5], XM_047435613.1:c.316GGC[6], XM_047435614.1:c.316GGC[3], XM_047435614.1:c.316GGC[5], XM_047435614.1:c.316GGC[6], XM_047435615.1:c.316GGC[3], XM_047435615.1:c.316GGC[5], XM_047435615.1:c.316GGC[6], XM_047435616.1:c.316GGC[3], XM_047435616.1:c.316GGC[5], XM_047435616.1:c.316GGC[6], XM_047435607.1:c.316GGC[3], XM_047435607.1:c.316GGC[5], XM_047435607.1:c.316GGC[6], XM_047435608.1:c.316GGC[3], XM_047435608.1:c.316GGC[5], XM_047435608.1:c.316GGC[6], XM_047435617.1:c.316GGC[3], XM_047435617.1:c.316GGC[5], XM_047435617.1:c.316GGC[6], XM_047435612.1:c.316GGC[3], XM_047435612.1:c.316GGC[5], XM_047435612.1:c.316GGC[6], XM_047435596.1:c.316GGC[3], XM_047435596.1:c.316GGC[5], XM_047435596.1:c.316GGC[6], XM_047435606.1:c.316GGC[3], XM_047435606.1:c.316GGC[5], XM_047435606.1:c.316GGC[6], XM_047435618.1:c.316GGC[3], XM_047435618.1:c.316GGC[5], XM_047435618.1:c.316GGC[6], XM_047435619.1:c.316GGC[3], XM_047435619.1:c.316GGC[5], XM_047435619.1:c.316GGC[6], NP_004450.3:p.Gly109del, NP_004450.3:p.Gly109dup, NP_004450.3:p.Gly108_Gly109dup, NP_872579.2:p.Gly109del, NP_872579.2:p.Gly109dup, NP_872579.2:p.Gly108_Gly109dup, XP_005257207.1:p.Gly109del, XP_005257207.1:p.Gly109dup, XP_005257207.1:p.Gly108_Gly109dup, XP_005257208.1:p.Gly109del, XP_005257208.1:p.Gly109dup, XP_005257208.1:p.Gly108_Gly109dup, XP_005257210.1:p.Gly109del, XP_005257210.1:p.Gly109dup, XP_005257210.1:p.Gly108_Gly109dup, XP_005257211.1:p.Gly109del, XP_005257211.1:p.Gly109dup, XP_005257211.1:p.Gly108_Gly109dup, XP_005257213.1:p.Gly109del, XP_005257213.1:p.Gly109dup, XP_005257213.1:p.Gly108_Gly109dup, XP_005257212.1:p.Gly109del, XP_005257212.1:p.Gly109dup, XP_005257212.1:p.Gly108_Gly109dup, XP_005257214.1:p.Gly109del, XP_005257214.1:p.Gly109dup, XP_005257214.1:p.Gly108_Gly109dup, XP_005257215.1:p.Gly109del, XP_005257215.1:p.Gly109dup, XP_005257215.1:p.Gly108_Gly109dup, XP_005257218.1:p.Gly109del, XP_005257218.1:p.Gly109dup, XP_005257218.1:p.Gly108_Gly109dup, XP_005257209.1:p.Gly109del, XP_005257209.1:p.Gly109dup, XP_005257209.1:p.Gly108_Gly109dup, XP_011522822.1:p.Gly109del, XP_011522822.1:p.Gly109dup, XP_011522822.1:p.Gly108_Gly109dup, XP_011522824.1:p.Gly109del, XP_011522824.1:p.Gly109dup, XP_011522824.1:p.Gly108_Gly109dup, XP_005257216.1:p.Gly109del, XP_005257216.1:p.Gly109dup, XP_005257216.1:p.Gly108_Gly109dup, XP_011522825.1:p.Gly109del, XP_011522825.1:p.Gly109dup, XP_011522825.1:p.Gly108_Gly109dup, XP_016879842.1:p.Gly109del, XP_016879842.1:p.Gly109dup, XP_016879842.1:p.Gly108_Gly109dup, XP_005257217.1:p.Gly109del, XP_005257217.1:p.Gly109dup, XP_005257217.1:p.Gly108_Gly109dup, XP_011522827.1:p.Gly109del, XP_011522827.1:p.Gly109dup, XP_011522827.1:p.Gly108_Gly109dup, XP_011522828.1:p.Gly109del, XP_011522828.1:p.Gly109dup, XP_011522828.1:p.Gly108_Gly109dup, XP_024306414.1:p.Gly109del, XP_024306414.1:p.Gly109dup, XP_024306414.1:p.Gly108_Gly109dup, XP_024306415.1:p.Gly109del, XP_024306415.1:p.Gly109dup, XP_024306415.1:p.Gly108_Gly109dup, XP_047291553.1:p.Gly109del, XP_047291553.1:p.Gly109dup, XP_047291553.1:p.Gly108_Gly109dup, XP_047291555.1:p.Gly109del, XP_047291555.1:p.Gly109dup, XP_047291555.1:p.Gly108_Gly109dup, XP_047291554.1:p.Gly109del, XP_047291554.1:p.Gly109dup, XP_047291554.1:p.Gly108_Gly109dup, XP_047291556.1:p.Gly109del, XP_047291556.1:p.Gly109dup, XP_047291556.1:p.Gly108_Gly109dup, XP_047291559.1:p.Gly109del, XP_047291559.1:p.Gly109dup, XP_047291559.1:p.Gly108_Gly109dup, XP_047291558.1:p.Gly109del, XP_047291558.1:p.Gly109dup, XP_047291558.1:p.Gly108_Gly109dup, XP_047291560.1:p.Gly109del, XP_047291560.1:p.Gly109dup, XP_047291560.1:p.Gly108_Gly109dup, XP_047291561.1:p.Gly109del, XP_047291561.1:p.Gly109dup, XP_047291561.1:p.Gly108_Gly109dup, XP_047291557.1:p.Gly109del, XP_047291557.1:p.Gly109dup, XP_047291557.1:p.Gly108_Gly109dup, XP_047291566.1:p.Gly109del, XP_047291566.1:p.Gly109dup, XP_047291566.1:p.Gly108_Gly109dup, XP_047291565.1:p.Gly109del, XP_047291565.1:p.Gly109dup, XP_047291565.1:p.Gly108_Gly109dup, XP_047291567.1:p.Gly109del, XP_047291567.1:p.Gly109dup, XP_047291567.1:p.Gly108_Gly109dup, XP_047291569.1:p.Gly109del, XP_047291569.1:p.Gly109dup, XP_047291569.1:p.Gly108_Gly109dup, XP_047291570.1:p.Gly109del, XP_047291570.1:p.Gly109dup, XP_047291570.1:p.Gly108_Gly109dup, XP_047291571.1:p.Gly109del, XP_047291571.1:p.Gly109dup, XP_047291571.1:p.Gly108_Gly109dup, XP_047291572.1:p.Gly109del, XP_047291572.1:p.Gly109dup, XP_047291572.1:p.Gly108_Gly109dup, XP_047291563.1:p.Gly109del, XP_047291563.1:p.Gly109dup, XP_047291563.1:p.Gly108_Gly109dup, XP_047291564.1:p.Gly109del, XP_047291564.1:p.Gly109dup, XP_047291564.1:p.Gly108_Gly109dup, XP_047291573.1:p.Gly109del, XP_047291573.1:p.Gly109dup, XP_047291573.1:p.Gly108_Gly109dup, XP_047291568.1:p.Gly109del, XP_047291568.1:p.Gly109dup, XP_047291568.1:p.Gly108_Gly109dup, XP_047291552.1:p.Gly109del, XP_047291552.1:p.Gly109dup, XP_047291552.1:p.Gly108_Gly109dup, XP_047291562.1:p.Gly109del, XP_047291562.1:p.Gly109dup, XP_047291562.1:p.Gly108_Gly109dup, XP_047291574.1:p.Gly109del, XP_047291574.1:p.Gly109dup, XP_047291574.1:p.Gly108_Gly109dup, XP_047291575.1:p.Gly109del, XP_047291575.1:p.Gly109dup, XP_047291575.1:p.Gly108_Gly109dup

Select item 148436494619.

rs1484364946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:67931938 (GRCh38)
17:65928054 (GRCh37)
Canonical SPDI:: NC_000017.11:67931937:G:A,NC_000017.11:67931937:G:C
Gene:: BPTF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.67931938G>A, NC_000017.11:g.67931938G>C, NC_000017.10:g.65928054G>A, NC_000017.10:g.65928054G>C, NG_052828.1:g.111422G>A, NG_052828.1:g.111422G>C, NM_004459.7:c.6556G>A, NM_004459.7:c.6556G>C, NM_004459.6:c.6556G>A, NM_004459.6:c.6556G>C, NM_182641.4:c.6178G>A, NM_182641.4:c.6178G>C, NM_182641.3:c.6178G>A, NM_182641.3:c.6178G>C, XM_011524524.4:c.3808G>A, XM_011524524.4:c.3808G>C, XM_011524524.3:c.3808G>A, XM_011524524.3:c.3808G>C, XM_011524524.2:c.3808G>A, XM_011524524.2:c.3808G>C, XM_011524524.1:c.3808G>A, XM_011524524.1:c.3808G>C, XM_005257150.4:c.6718G>A, XM_005257150.4:c.6718G>C, XM_005257150.3:c.6718G>A, XM_005257150.3:c.6718G>C, XM_005257150.2:c.6718G>A, XM_005257150.2:c.6718G>C, XM_005257150.1:c.6718G>A, XM_005257150.1:c.6718G>C, XM_005257151.4:c.6715G>A, XM_005257151.4:c.6715G>C, XM_005257151.3:c.6715G>A, XM_005257151.3:c.6715G>C, XM_005257151.2:c.6715G>A, XM_005257151.2:c.6715G>C, XM_005257151.1:c.6715G>A, XM_005257151.1:c.6715G>C, XM_005257153.4:c.6556G>A, XM_005257153.4:c.6556G>C, XM_005257153.3:c.6556G>A, XM_005257153.3:c.6556G>C, XM_005257153.2:c.6556G>A, XM_005257153.2:c.6556G>C, XM_005257153.1:c.6556G>A, XM_005257153.1:c.6556G>C, XM_005257154.4:c.6718G>A, XM_005257154.4:c.6718G>C, XM_005257154.3:c.6718G>A, XM_005257154.3:c.6718G>C, XM_005257154.2:c.6718G>A, XM_005257154.2:c.6718G>C, XM_005257154.1:c.6718G>A, XM_005257154.1:c.6718G>C, XM_005257156.4:c.6529G>A, XM_005257156.4:c.6529G>C, XM_005257156.3:c.6529G>A, XM_005257156.3:c.6529G>C, XM_005257156.2:c.6529G>A, XM_005257156.2:c.6529G>C, XM_005257156.1:c.6529G>A, XM_005257156.1:c.6529G>C, XM_005257155.4:c.6529G>A, XM_005257155.4:c.6529G>C, XM_005257155.3:c.6529G>A, XM_005257155.3:c.6529G>C, XM_005257155.2:c.6529G>A, XM_005257155.2:c.6529G>C, XM_005257155.1:c.6529G>A, XM_005257155.1:c.6529G>C, XM_005257157.4:c.6526G>A, XM_005257157.4:c.6526G>C, XM_005257157.3:c.6526G>A, XM_005257157.3:c.6526G>C, XM_005257157.2:c.6526G>A, XM_005257157.2:c.6526G>C, XM_005257157.1:c.6526G>A, XM_005257157.1:c.6526G>C, XM_005257158.4:c.6340G>A, XM_005257158.4:c.6340G>C, XM_005257158.3:c.6340G>A, XM_005257158.3:c.6340G>C, XM_005257158.2:c.6340G>A, XM_005257158.2:c.6340G>C, XM_005257158.1:c.6340G>A, XM_005257158.1:c.6340G>C, XM_005257161.4:c.6718G>A, XM_005257161.4:c.6718G>C, XM_005257161.3:c.6718G>A, XM_005257161.3:c.6718G>C, XM_005257161.2:c.6718G>A, XM_005257161.2:c.6718G>C, XM_005257161.1:c.6718G>A, XM_005257161.1:c.6718G>C, XM_005257152.4:c.6718G>A, XM_005257152.4:c.6718G>C, XM_005257152.3:c.6718G>A, XM_005257152.3:c.6718G>C, XM_005257152.2:c.6718G>A, XM_005257152.2:c.6718G>C, XM_005257152.1:c.6718G>A, XM_005257152.1:c.6718G>C, XM_017024354.3:c.4225G>A, XM_017024354.3:c.4225G>C, XM_017024354.2:c.4225G>A, XM_017024354.2:c.4225G>C, XM_017024354.1:c.4225G>A, XM_017024354.1:c.4225G>C, XM_011524520.3:c.6715G>A, XM_011524520.3:c.6715G>C, XM_011524520.2:c.6715G>A, XM_011524520.2:c.6715G>C, XM_011524520.1:c.6715G>A, XM_011524520.1:c.6715G>C, XM_011524522.3:c.6337G>A, XM_011524522.3:c.6337G>C, XM_011524522.2:c.6337G>A, XM_011524522.2:c.6337G>C, XM_011524522.1:c.6337G>A, XM_011524522.1:c.6337G>C, XM_005257159.3:c.6718G>A, XM_005257159.3:c.6718G>C, XM_005257159.2:c.6718G>A, XM_005257159.2:c.6718G>C, XM_005257159.1:c.6718G>A, XM_005257159.1:c.6718G>C, XM_011524523.3:c.6175G>A, XM_011524523.3:c.6175G>C, XM_011524523.2:c.6175G>A, XM_011524523.2:c.6175G>C, XM_011524523.1:c.6175G>A, XM_011524523.1:c.6175G>C, XM_017024353.3:c.6718G>A, XM_017024353.3:c.6718G>C, XM_017024353.2:c.6718G>A, XM_017024353.2:c.6718G>C, XM_017024353.1:c.6718G>A, XM_017024353.1:c.6718G>C, XM_005257160.3:c.6556G>A, XM_005257160.3:c.6556G>C, XM_005257160.2:c.6556G>A, XM_005257160.2:c.6556G>C, XM_005257160.1:c.6556G>A, XM_005257160.1:c.6556G>C, XM_011524525.3:c.6175G>A, XM_011524525.3:c.6175G>C, XM_011524525.2:c.6175G>A, XM_011524525.2:c.6175G>C, XM_011524525.1:c.6175G>A, XM_011524525.1:c.6175G>C, XM_011524526.3:c.6175G>A, XM_011524526.3:c.6175G>C, XM_011524526.2:c.6175G>A, XM_011524526.2:c.6175G>C, XM_011524526.1:c.6175G>A, XM_011524526.1:c.6175G>C, XM_024450646.2:c.6526G>A, XM_024450646.2:c.6526G>C, XM_024450646.1:c.6526G>A, XM_024450646.1:c.6526G>C, XM_024450647.2:c.6718G>A, XM_024450647.2:c.6718G>C, XM_024450647.1:c.6718G>A, XM_024450647.1:c.6718G>C, XM_047435620.1:c.3646G>A, XM_047435620.1:c.3646G>C, XM_047435621.1:c.3646G>A, XM_047435621.1:c.3646G>C, XM_047435597.1:c.6556G>A, XM_047435597.1:c.6556G>C, XM_047435599.1:c.6367G>A, XM_047435599.1:c.6367G>C, XM_047435598.1:c.6367G>A, XM_047435598.1:c.6367G>C, XM_047435600.1:c.6364G>A, XM_047435600.1:c.6364G>C, XM_047435603.1:c.6367G>A, XM_047435603.1:c.6367G>C, XM_047435602.1:c.6367G>A, XM_047435602.1:c.6367G>C, XM_047435604.1:c.6178G>A, XM_047435604.1:c.6178G>C, XM_047435605.1:c.6529G>A, XM_047435605.1:c.6529G>C, XM_047435601.1:c.6556G>A, XM_047435601.1:c.6556G>C, XM_047435610.1:c.6367G>A, XM_047435610.1:c.6367G>C, XM_047435609.1:c.6367G>A, XM_047435609.1:c.6367G>C, XM_047435611.1:c.6364G>A, XM_047435611.1:c.6364G>C, XM_047435613.1:c.6340G>A, XM_047435613.1:c.6340G>C, XM_047435614.1:c.6367G>A, XM_047435614.1:c.6367G>C, XM_047435615.1:c.6178G>A, XM_047435615.1:c.6178G>C, XM_047435616.1:c.6175G>A, XM_047435616.1:c.6175G>C, XM_047435607.1:c.6718G>A, XM_047435607.1:c.6718G>C, XM_047435608.1:c.6178G>A, XM_047435608.1:c.6178G>C, XM_047435617.1:c.6178G>A, XM_047435617.1:c.6178G>C, XM_047435612.1:c.6556G>A, XM_047435612.1:c.6556G>C, XM_047435596.1:c.6556G>A, XM_047435596.1:c.6556G>C, XM_047435606.1:c.6556G>A, XM_047435606.1:c.6556G>C, XM_047435618.1:c.6718G>A, XM_047435618.1:c.6718G>C, XM_047435619.1:c.6556G>A, XM_047435619.1:c.6556G>C, NP_004450.3:p.Gly2186Ser, NP_004450.3:p.Gly2186Arg, NP_872579.2:p.Gly2060Ser, NP_872579.2:p.Gly2060Arg, XP_011522826.1:p.Gly1270Ser, XP_011522826.1:p.Gly1270Arg, XP_005257207.1:p.Gly2240Ser, XP_005257207.1:p.Gly2240Arg, XP_005257208.1:p.Gly2239Ser, XP_005257208.1:p.Gly2239Arg, XP_005257210.1:p.Gly2186Ser, XP_005257210.1:p.Gly2186Arg, XP_005257211.1:p.Gly2240Ser, XP_005257211.1:p.Gly2240Arg, XP_005257213.1:p.Gly2177Ser, XP_005257213.1:p.Gly2177Arg, XP_005257212.1:p.Gly2177Ser, XP_005257212.1:p.Gly2177Arg, XP_005257214.1:p.Gly2176Ser, XP_005257214.1:p.Gly2176Arg, XP_005257215.1:p.Gly2114Ser, XP_005257215.1:p.Gly2114Arg, XP_005257218.1:p.Gly2240Ser, XP_005257218.1:p.Gly2240Arg, XP_005257209.1:p.Gly2240Ser, XP_005257209.1:p.Gly2240Arg, XP_016879843.1:p.Gly1409Ser, XP_016879843.1:p.Gly1409Arg, XP_011522822.1:p.Gly2239Ser, XP_011522822.1:p.Gly2239Arg, XP_011522824.1:p.Gly2113Ser, XP_011522824.1:p.Gly2113Arg, XP_005257216.1:p.Gly2240Ser, XP_005257216.1:p.Gly2240Arg, XP_011522825.1:p.Gly2059Ser, XP_011522825.1:p.Gly2059Arg, XP_016879842.1:p.Gly2240Ser, XP_016879842.1:p.Gly2240Arg, XP_005257217.1:p.Gly2186Ser, XP_005257217.1:p.Gly2186Arg, XP_011522827.1:p.Gly2059Ser, XP_011522827.1:p.Gly2059Arg, XP_011522828.1:p.Gly2059Ser, XP_011522828.1:p.Gly2059Arg, XP_024306414.1:p.Gly2176Ser, XP_024306414.1:p.Gly2176Arg, XP_024306415.1:p.Gly2240Ser, XP_024306415.1:p.Gly2240Arg, XP_047291576.1:p.Gly1216Ser, XP_047291576.1:p.Gly1216Arg, XP_047291577.1:p.Gly1216Ser, XP_047291577.1:p.Gly1216Arg, XP_047291553.1:p.Gly2186Ser, XP_047291553.1:p.Gly2186Arg, XP_047291555.1:p.Gly2123Ser, XP_047291555.1:p.Gly2123Arg, XP_047291554.1:p.Gly2123Ser, XP_047291554.1:p.Gly2123Arg, XP_047291556.1:p.Gly2122Ser, XP_047291556.1:p.Gly2122Arg, XP_047291559.1:p.Gly2123Ser, XP_047291559.1:p.Gly2123Arg, XP_047291558.1:p.Gly2123Ser, XP_047291558.1:p.Gly2123Arg, XP_047291560.1:p.Gly2060Ser, XP_047291560.1:p.Gly2060Arg, XP_047291561.1:p.Gly2177Ser, XP_047291561.1:p.Gly2177Arg, XP_047291557.1:p.Gly2186Ser, XP_047291557.1:p.Gly2186Arg, XP_047291566.1:p.Gly2123Ser, XP_047291566.1:p.Gly2123Arg, XP_047291565.1:p.Gly2123Ser, XP_047291565.1:p.Gly2123Arg, XP_047291567.1:p.Gly2122Ser, XP_047291567.1:p.Gly2122Arg, XP_047291569.1:p.Gly2114Ser, XP_047291569.1:p.Gly2114Arg, XP_047291570.1:p.Gly2123Ser, XP_047291570.1:p.Gly2123Arg, XP_047291571.1:p.Gly2060Ser, XP_047291571.1:p.Gly2060Arg, XP_047291572.1:p.Gly2059Ser, XP_047291572.1:p.Gly2059Arg, XP_047291563.1:p.Gly2240Ser, XP_047291563.1:p.Gly2240Arg, XP_047291564.1:p.Gly2060Ser, XP_047291564.1:p.Gly2060Arg, XP_047291573.1:p.Gly2060Ser, XP_047291573.1:p.Gly2060Arg, XP_047291568.1:p.Gly2186Ser, XP_047291568.1:p.Gly2186Arg, XP_047291552.1:p.Gly2186Ser, XP_047291552.1:p.Gly2186Arg, XP_047291562.1:p.Gly2186Ser, XP_047291562.1:p.Gly2186Arg, XP_047291574.1:p.Gly2240Ser, XP_047291574.1:p.Gly2240Arg, XP_047291575.1:p.Gly2186Ser, XP_047291575.1:p.Gly2186Arg

Select item 148399275020.

rs1483992750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67911289 (GRCh38)
17:65907405 (GRCh37)
Canonical SPDI:: NC_000017.11:67911288:C:T
Gene:: BPTF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.67911289C>T, NC_000017.10:g.65907405C>T, NG_052828.1:g.90773C>T, NM_004459.7:c.3783C>T, NM_004459.6:c.3783C>T, NM_182641.4:c.3405C>T, NM_182641.3:c.3405C>T, XM_011524524.4:c.873C>T, XM_011524524.3:c.873C>T, XM_011524524.2:c.873C>T, XM_011524524.1:c.873C>T, XM_005257150.4:c.3783C>T, XM_005257150.3:c.3783C>T, XM_005257150.2:c.3783C>T, XM_005257150.1:c.3783C>T, XM_005257151.4:c.3780C>T, XM_005257151.3:c.3780C>T, XM_005257151.2:c.3780C>T, XM_005257151.1:c.3780C>T, XM_005257153.4:c.3783C>T, XM_005257153.3:c.3783C>T, XM_005257153.2:c.3783C>T, XM_005257153.1:c.3783C>T, XM_005257154.4:c.3783C>T, XM_005257154.3:c.3783C>T, XM_005257154.2:c.3783C>T, XM_005257154.1:c.3783C>T, XM_005257156.4:c.3594C>T, XM_005257156.3:c.3594C>T, XM_005257156.2:c.3594C>T, XM_005257156.1:c.3594C>T, XM_005257155.4:c.3594C>T, XM_005257155.3:c.3594C>T, XM_005257155.2:c.3594C>T, XM_005257155.1:c.3594C>T, XM_005257157.4:c.3591C>T, XM_005257157.3:c.3591C>T, XM_005257157.2:c.3591C>T, XM_005257157.1:c.3591C>T, XM_005257158.4:c.3405C>T, XM_005257158.3:c.3405C>T, XM_005257158.2:c.3405C>T, XM_005257158.1:c.3405C>T, XM_005257161.4:c.3783C>T, XM_005257161.3:c.3783C>T, XM_005257161.2:c.3783C>T, XM_005257161.1:c.3783C>T, XM_005257152.4:c.3783C>T, XM_005257152.3:c.3783C>T, XM_005257152.2:c.3783C>T, XM_005257152.1:c.3783C>T, XM_017024354.3:c.1290C>T, XM_017024354.2:c.1290C>T, XM_017024354.1:c.1290C>T, XM_011524520.3:c.3780C>T, XM_011524520.2:c.3780C>T, XM_011524520.1:c.3780C>T, XM_011524522.3:c.3402C>T, XM_011524522.2:c.3402C>T, XM_011524522.1:c.3402C>T, XM_005257159.3:c.3783C>T, XM_005257159.2:c.3783C>T, XM_005257159.1:c.3783C>T, XM_011524523.3:c.3402C>T, XM_011524523.2:c.3402C>T, XM_011524523.1:c.3402C>T, XM_017024353.3:c.3783C>T, XM_017024353.2:c.3783C>T, XM_017024353.1:c.3783C>T, XM_005257160.3:c.3783C>T, XM_005257160.2:c.3783C>T, XM_005257160.1:c.3783C>T, XM_011524525.3:c.3402C>T, XM_011524525.2:c.3402C>T, XM_011524525.1:c.3402C>T, XM_011524526.3:c.3402C>T, XM_011524526.2:c.3402C>T, XM_011524526.1:c.3402C>T, XM_024450646.2:c.3591C>T, XM_024450646.1:c.3591C>T, XM_024450647.2:c.3783C>T, XM_024450647.1:c.3783C>T, XM_047435620.1:c.873C>T, XM_047435621.1:c.873C>T, XM_047435597.1:c.3783C>T, XM_047435599.1:c.3594C>T, XM_047435598.1:c.3594C>T, XM_047435600.1:c.3591C>T, XM_047435603.1:c.3594C>T, XM_047435602.1:c.3594C>T, XM_047435604.1:c.3405C>T, XM_047435605.1:c.3594C>T, XM_047435601.1:c.3783C>T, XM_047435610.1:c.3594C>T, XM_047435609.1:c.3594C>T, XM_047435611.1:c.3591C>T, XM_047435613.1:c.3405C>T, XM_047435614.1:c.3594C>T, XM_047435615.1:c.3405C>T, XM_047435616.1:c.3402C>T, XM_047435607.1:c.3783C>T, XM_047435608.1:c.3405C>T, XM_047435617.1:c.3405C>T, XM_047435612.1:c.3783C>T, XM_047435596.1:c.3783C>T, XM_047435606.1:c.3783C>T, XM_047435618.1:c.3783C>T, XM_047435619.1:c.3783C>T

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