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.91313166C>ACA390629600CCDC88Cc.2650G>T (p.Gly884Cys)
c.2542G>T (p.Gly848Cys)
n.2778G>T
n.2776G>T
14g.91313166C=CA2154878381CCDC88Cc.2650G= (p.Gly884=)
c.2542G= (p.Gly848=)
n.2778G=
n.2776G=
14g.91313166C>GCA390629601CCDC88Cc.2650G>C (p.Gly884Arg)
c.2542G>C (p.Gly848Arg)
n.2778G>C
n.2776G>C
14g.91313166C>TCA7309593CCDC88Cc.2650G>A (p.Gly884Ser)
c.2542G>A (p.Gly848Ser)
n.2778G>A
n.2776G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313167G>ACA7309594CCDC88Cc.2649C>T (p.Ala883=)
c.2541C>T (p.Ala847=)
n.2777C>T
n.2775C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313167G>CCA487550399CCDC88Cc.2649C>G (p.Ala883=)
c.2541C>G (p.Ala847=)
n.2777C>G
n.2775C>G
14g.91313167G=CA2154878383CCDC88Cc.2649C= (p.Ala883=)
c.2541C= (p.Ala847=)
n.2777C=
n.2775C=
14g.91313167G>TCA487550400CCDC88Cc.2649C>A (p.Ala883=)
c.2541C>A (p.Ala847=)
n.2777C>A
n.2775C>A
 gnomAD v4
14g.91313168G>ACA390629602CCDC88Cc.2648C>T (p.Ala883Val)
c.2540C>T (p.Ala847Val)
n.2776C>T
n.2774C>T
14g.91313168G>CCA390629603CCDC88Cc.2648C>G (p.Ala883Gly)
c.2540C>G (p.Ala847Gly)
n.2776C>G
n.2774C>G
14g.91313168G>TCA390629604CCDC88Cc.2648C>A (p.Ala883Asp)
c.2540C>A (p.Ala847Asp)
n.2776C>A
n.2774C>A
14g.91313169C>ACA390629605CCDC88Cc.2647G>T (p.Ala883Ser)
c.2539G>T (p.Ala847Ser)
n.2775G>T
n.2773G>T
14g.91313169C>GCA390629606CCDC88Cc.2647G>C (p.Ala883Pro)
c.2539G>C (p.Ala847Pro)
n.2775G>C
n.2773G>C
14g.91313169C>TCA390629607CCDC88Cc.2647G>A (p.Ala883Thr)
c.2539G>A (p.Ala847Thr)
n.2775G>A
n.2773G>A
 gnomAD v4
14g.91313169_91313170delinsCTCA2154878386CCDC88Cc.2646_2647delinsAG (p.Ala882=)
c.2538_2539delinsAG (p.Ala846=)
n.2774_2775delinsAG
n.2772_2773delinsAG
14g.91313170delCA2154878390CCDC88Cc.2646del (p.Ala883ProfsTer4)
c.2538del (p.Ala847ProfsTer4)
n.2774del
n.2772del
 dbSNP
14g.91313170T>ACA487550402CCDC88Cc.2646A>T (p.Ala882=)
c.2538A>T (p.Ala846=)
n.2774A>T
n.2772A>T
14g.91313170T>CCA487550403CCDC88Cc.2646A>G (p.Ala882=)
c.2538A>G (p.Ala846=)
n.2774A>G
n.2772A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91313170T>GCA487550404CCDC88Cc.2646A>C (p.Ala882=)
c.2538A>C (p.Ala846=)
n.2774A>C
n.2772A>C
14g.91313170T=CA2154878388CCDC88Cc.2646A= (p.Ala882=)
c.2538A= (p.Ala846=)
n.2774A=
n.2772A=
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

Number of alleles fetched