Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91313147_91313186delinsTCCAGCTCCTTCAGCTTGCCGGCTGCGTCCCTGCAGCGGGCA2154878356CCDC88Cc.2630_2669delinsCCCGCTGCAGGGACGCAGCCGGCAAGCTGAAGGAGCTGGA (p.Ala877=)
c.2522_2561delinsCCCGCTGCAGGGACGCAGCCGGCAAGCTGAAGGAGCTGGA (p.Ala841=)
n.2758_2797delinsCCCGCTGCAGGGACGCAGCCGGCAAGCTGAAGGAGCTGGA
n.2756_2795delinsCCCGCTGCAGGGACGCAGCCGGCAAGCTGAAGGAGCTGGA
14g.91313158_91313196delCA7309592CCDC88Cc.2630_2668del (p.Ala877_Leu889del)
c.2522_2560del (p.Ala841_Leu853del)
n.2758_2796del
n.2756_2794del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313153_91313175delinsTCCTTCAGCTTGCCGGCTGCGTCCA2154878368CCDC88Cc.2641_2663delinsGACGCAGCCGGCAAGCTGAAGGA (p.Asp881=)
c.2533_2555delinsGACGCAGCCGGCAAGCTGAAGGA (p.Asp845=)
n.2769_2791delinsGACGCAGCCGGCAAGCTGAAGGA
n.2767_2789delinsGACGCAGCCGGCAAGCTGAAGGA
14g.91313157_91313178delCA616112439CCDC88Cc.2641_2662del (p.Asp881SerfsTer20)
c.2533_2554del (p.Asp845SerfsTer20)
n.2769_2790del
n.2767_2788del
 dbSNP gnomAD v2 gnomAD v4
14g.91313171G>ACA390629608CCDC88Cc.2645C>T (p.Ala882Val)
c.2537C>T (p.Ala846Val)
n.2773C>T
n.2771C>T
 gnomAD v4
14g.91313171G>CCA390629609CCDC88Cc.2645C>G (p.Ala882Gly)
c.2537C>G (p.Ala846Gly)
n.2773C>G
n.2771C>G
14g.91313171G>TCA390629610CCDC88Cc.2645C>A (p.Ala882Glu)
c.2537C>A (p.Ala846Glu)
n.2773C>A
n.2771C>A
14g.91313172_91313173dupCA616112440CCDC88Cc.2644_2645dup (p.Ala883GlnfsTer5)
c.2536_2537dup (p.Ala847GlnfsTer5)
n.2772_2773dup
n.2770_2771dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91313172C>ACA390629611CCDC88Cc.2644G>T (p.Ala882Ser)
c.2536G>T (p.Ala846Ser)
n.2772G>T
n.2770G>T
14g.91313172C=CA2154878397CCDC88Cc.2644G= (p.Ala882=)
c.2536G= (p.Ala846=)
n.2772G=
n.2770G=
14g.91313172C>GCA390629612CCDC88Cc.2644G>C (p.Ala882Pro)
c.2536G>C (p.Ala846Pro)
n.2772G>C
n.2770G>C
14g.91313172C>TCA7309595CCDC88Cc.2644G>A (p.Ala882Thr)
c.2536G>A (p.Ala846Thr)
n.2772G>A
n.2770G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313173G>ACA7309596CCDC88Cc.2643C>T (p.Asp881=)
c.2535C>T (p.Asp845=)
n.2771C>T
n.2769C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313173G>CCA390629614CCDC88Cc.2643C>G (p.Asp881Glu)
c.2535C>G (p.Asp845Glu)
n.2771C>G
n.2769C>G
14g.91313173G=CA2154878399CCDC88Cc.2643C= (p.Asp881=)
c.2535C= (p.Asp845=)
n.2771C=
n.2769C=
14g.91313173G>TCA390629613CCDC88Cc.2643C>A (p.Asp881Glu)
c.2535C>A (p.Asp845Glu)
n.2771C>A
n.2769C>A
 dbSNP gnomAD v2 gnomAD v4
14g.91313174T>ACA390629615CCDC88Cc.2642A>T (p.Asp881Val)
c.2534A>T (p.Asp845Val)
n.2770A>T
n.2768A>T
14g.91313174T>CCA390629616CCDC88Cc.2642A>G (p.Asp881Gly)
c.2534A>G (p.Asp845Gly)
n.2770A>G
n.2768A>G
14g.91313174T>GCA390629617CCDC88Cc.2642A>C (p.Asp881Ala)
c.2534A>C (p.Asp845Ala)
n.2770A>C
n.2768A>C
14g.91313175C>ACA390629618CCDC88Cc.2641G>T (p.Asp881Tyr)
c.2533G>T (p.Asp845Tyr)
n.2769G>T
n.2767G>T
14g.91313175C>GCA390629619CCDC88Cc.2641G>C (p.Asp881His)
c.2533G>C (p.Asp845His)
n.2769G>C
n.2767G>C
14g.91313175C>TCA390629620CCDC88Cc.2641G>A (p.Asp881Asn)
c.2533G>A (p.Asp845Asn)
n.2769G>A
n.2767G>A
14g.91313176C>ACA390629621CCDC88Cc.2640G>T (p.Arg880Ser)
c.2532G>T (p.Arg844Ser)
n.2768G>T
n.2766G>T
14g.91313176C=CA2154878408CCDC88Cc.2640G= (p.Arg880=)
c.2532G= (p.Arg844=)
n.2768G=
n.2766G=
14g.91313176C>GCA390629622CCDC88Cc.2640G>C (p.Arg880Ser)
c.2532G>C (p.Arg844Ser)
n.2768G>C
n.2766G>C
14g.91313176C>TCA7309597CCDC88Cc.2640G>A (p.Arg880=)
c.2532G>A (p.Arg844=)
n.2768G>A
n.2766G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313177C>ACA390629623CCDC88Cc.2639G>T (p.Arg880Met)
c.2531G>T (p.Arg844Met)
n.2767G>T
n.2765G>T
14g.91313177C=CA2154878413CCDC88Cc.2639G= (p.Arg880=)
c.2531G= (p.Arg844=)
n.2767G=
n.2765G=
14g.91313177C>GCA390629624CCDC88Cc.2639G>C (p.Arg880Thr)
c.2531G>C (p.Arg844Thr)
n.2767G>C
n.2765G>C
14g.91313177C>TCA390629625CCDC88Cc.2639G>A (p.Arg880Lys)
c.2531G>A (p.Arg844Lys)
n.2767G>A
n.2765G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91313178T>ACA390629626CCDC88Cc.2638A>T (p.Arg880Trp)
c.2530A>T (p.Arg844Trp)
n.2766A>T
n.2764A>T
14g.91313178T>CCA390629627CCDC88Cc.2638A>G (p.Arg880Gly)
c.2530A>G (p.Arg844Gly)
n.2766A>G
n.2764A>G
14g.91313178T>GCA487550411CCDC88Cc.2638A>C (p.Arg880=)
c.2530A>C (p.Arg844=)
n.2766A>C
n.2764A>C
14g.91313179G>ACA487550412CCDC88Cc.2637C>T (p.Cys879=)
c.2529C>T (p.Cys843=)
n.2765C>T
n.2763C>T
14g.91313179G>CCA390629628CCDC88Cc.2637C>G (p.Cys879Trp)
c.2529C>G (p.Cys843Trp)
n.2765C>G
n.2763C>G
14g.91313179G>TCA390629629CCDC88Cc.2637C>A (p.Cys879Ter)
c.2529C>A (p.Cys843Ter)
n.2765C>A
n.2763C>A
14g.91313180C>ACA390629630CCDC88Cc.2636G>T (p.Cys879Phe)
c.2528G>T (p.Cys843Phe)
n.2764G>T
n.2762G>T
14g.91313180C=CA2154878419CCDC88Cc.2636G= (p.Cys879=)
c.2528G= (p.Cys843=)
n.2764G=
n.2762G=
14g.91313180C>GCA390629631CCDC88Cc.2636G>C (p.Cys879Ser)
c.2528G>C (p.Cys843Ser)
n.2764G>C
n.2762G>C
14g.91313180C>TCA390629632CCDC88Cc.2636G>A (p.Cys879Tyr)
c.2528G>A (p.Cys843Tyr)
n.2764G>A
n.2762G>A
 dbSNP
14g.91313181A=CA2154878421CCDC88Cc.2635T= (p.Cys879=)
c.2527T= (p.Cys843=)
n.2763T=
n.2761T=
14g.91313181A>CCA390629633CCDC88Cc.2635T>G (p.Cys879Gly)
c.2527T>G (p.Cys843Gly)
n.2763T>G
n.2761T>G
 gnomAD v4
14g.91313181A>GCA7309598CCDC88Cc.2635T>C (p.Cys879Arg)
c.2527T>C (p.Cys843Arg)
n.2763T>C
n.2761T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91313181A>TCA390629634CCDC88Cc.2635T>A (p.Cys879Ser)
c.2527T>A (p.Cys843Ser)
n.2763T>A
n.2761T>A
14g.91313182G>ACA487550419CCDC88Cc.2634C>T (p.Arg878=)
c.2526C>T (p.Arg842=)
n.2762C>T
n.2760C>T
14g.91313182G>CCA487550420CCDC88Cc.2634C>G (p.Arg878=)
c.2526C>G (p.Arg842=)
n.2762C>G
n.2760C>G
14g.91313182G>TCA487550421CCDC88Cc.2634C>A (p.Arg878=)
c.2526C>A (p.Arg842=)
n.2762C>A
n.2760C>A
14g.91313183C>ACA390629636CCDC88Cc.2633G>T (p.Arg878Leu)
c.2525G>T (p.Arg842Leu)
n.2761G>T
n.2759G>T
14g.91313183C=CA2154878423CCDC88Cc.2633G= (p.Arg878=)
c.2525G= (p.Arg842=)
n.2761G=
n.2759G=
14g.91313183C>GCA390629635CCDC88Cc.2633G>C (p.Arg878Pro)
c.2525G>C (p.Arg842Pro)
n.2761G>C
n.2759G>C

Number of alleles fetched