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.91313160G>ACA487550389CCDC88Cc.2656C>T (p.Leu886=)
c.2548C>T (p.Leu850=)
n.2784C>T
c.-136C>T (n.-136C>T)
n.2782C>T
14g.91313160G>CCA390629587CCDC88Cc.2656C>G (p.Leu886Val)
c.2548C>G (p.Leu850Val)
n.2784C>G
c.-136C>G (n.-136C>G)
n.2782C>G
14g.91313160G>TCA390629588CCDC88Cc.2656C>A (p.Leu886Met)
c.2548C>A (p.Leu850Met)
n.2784C>A
c.-136C>A (n.-136C>A)
n.2782C>A
14g.91313161C>ACA390629589CCDC88Cc.2655G>T (p.Lys885Asn)
c.2547G>T (p.Lys849Asn)
n.2783G>T
n.2781G>T
14g.91313161C=CA2154878378CCDC88Cc.2655G= (p.Lys885=)
c.2547G= (p.Lys849=)
n.2783G=
n.2781G=
14g.91313161C>GCA390629590CCDC88Cc.2655G>C (p.Lys885Asn)
c.2547G>C (p.Lys849Asn)
n.2783G>C
n.2781G>C
14g.91313161C>TCA487550390CCDC88Cc.2655G>A (p.Lys885=)
c.2547G>A (p.Lys849=)
n.2783G>A
n.2781G>A
 dbSNP
14g.91313162T>ACA390629591CCDC88Cc.2654A>T (p.Lys885Met)
c.2546A>T (p.Lys849Met)
n.2782A>T
n.2780A>T
14g.91313162T>CCA390629592CCDC88Cc.2654A>G (p.Lys885Arg)
c.2546A>G (p.Lys849Arg)
n.2782A>G
n.2780A>G
14g.91313162T>GCA390629593CCDC88Cc.2654A>C (p.Lys885Thr)
c.2546A>C (p.Lys849Thr)
n.2782A>C
n.2780A>C
14g.91313163T>ACA390629594CCDC88Cc.2653A>T (p.Lys885Ter)
c.2545A>T (p.Lys849Ter)
n.2781A>T
n.2779A>T
14g.91313163T>CCA390629595CCDC88Cc.2653A>G (p.Lys885Glu)
c.2545A>G (p.Lys849Glu)
n.2781A>G
n.2779A>G
14g.91313163T>GCA390629596CCDC88Cc.2653A>C (p.Lys885Gln)
c.2545A>C (p.Lys849Gln)
n.2781A>C
n.2779A>C
14g.91313164G>ACA487550393CCDC88Cc.2652C>T (p.Gly884=)
c.2544C>T (p.Gly848=)
n.2780C>T
n.2778C>T
 gnomAD v4
14g.91313164G>CCA487550396CCDC88Cc.2652C>G (p.Gly884=)
c.2544C>G (p.Gly848=)
n.2780C>G
n.2778C>G
14g.91313164G>TCA487550395CCDC88Cc.2652C>A (p.Gly884=)
c.2544C>A (p.Gly848=)
n.2780C>A
n.2778C>A
 ClinVar
14g.91313165C>ACA390629597CCDC88Cc.2651G>T (p.Gly884Val)
c.2543G>T (p.Gly848Val)
n.2779G>T
n.2777G>T
14g.91313165C>GCA390629598CCDC88Cc.2651G>C (p.Gly884Ala)
c.2543G>C (p.Gly848Ala)
n.2779G>C
n.2777G>C
14g.91313165C>TCA390629599CCDC88Cc.2651G>A (p.Gly884Asp)
c.2543G>A (p.Gly848Asp)
n.2779G>A
n.2777G>A
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

Number of alleles fetched