Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54626627_54626631delCA2695209294RP1c.2745_2749del (p.Tyr915Ter)
c.787+4339_787+4343del (n.787+4339_787+4343del)
c.2766_2770del (p.Tyr922Ter)
8g.54626629_54626645delCA2573143171RP1c.2747_2763del (p.Ile916LysfsTer18)
c.787+4341_787+4357del (n.787+4341_787+4357del)
c.2768_2784del (p.Ile923LysfsTer18)
 ClinVar dbSNP gnomAD v4
8g.54626631_54626632delCA2780387021RP1c.2749_2750del (p.Gln917GlufsTer22)
c.787+4343_787+4344del (n.787+4343_787+4344del)
c.2770_2771del (p.Gln924GlufsTer22)
8g.54626630_54626654delinsACAGAGTTGGTTGCAGAACATAAATCA1785188413RP1c.2748_2772delinsACAGAGTTGGTTGCAGAACATAAAT (p.Ile916=)
c.787+4342_787+4366delinsACAGAGTTGGTTGCAGAACATAAAT (n.787+4342_787+4366delinsACAGAGTTGGTTGCAGAACATAAAT)
c.2769_2793delinsACAGAGTTGGTTGCAGAACATAAAT (p.Ile923=)
8g.54626631C>ACA370994537RP1c.2749C>A (p.Gln917Lys)
c.787+4343C>A (n.787+4343C>A)
c.2770C>A (p.Gln924Lys)
8g.54626631C=CA1785188415RP1c.2749C= (p.Gln917=)
c.787+4343C= (n.787+4343C=)
c.2770C= (p.Gln924=)
8g.54626631C>GCA370994538RP1c.2749C>G (p.Gln917Glu)
c.787+4343C>G (n.787+4343C>G)
c.2770C>G (p.Gln924Glu)
8g.54626631C>TCA10581674RP1c.2749C>T (p.Gln917Ter)
c.787+4343C>T (n.787+4343C>T)
c.2770C>T (p.Gln924Ter)
 ClinVar dbSNP
8g.54626632_54626655delCA4751579RP1c.2750_2773del (p.Gln917_Asn924del)
c.787+4344_787+4367del (n.787+4344_787+4367del)
c.2771_2794del (p.Gln924_Asn931del)
 dbSNP ExAC
8g.54626632A=CA1785188416RP1c.2750A= (p.Gln917=)
c.787+4344A= (n.787+4344A=)
c.2771A= (p.Gln924=)
8g.54626632A>CCA370994539RP1c.2750A>C (p.Gln917Pro)
c.787+4344A>C (n.787+4344A>C)
c.2771A>C (p.Gln924Pro)
8g.54626632A>GCA370994540RP1c.2750A>G (p.Gln917Arg)
c.787+4344A>G (n.787+4344A>G)
c.2771A>G (p.Gln924Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626632A>TCA370994541RP1c.2750A>T (p.Gln917Leu)
c.787+4344A>T (n.787+4344A>T)
c.2771A>T (p.Gln924Leu)
8g.54626632_54626636delCA2780387022RP1c.2750_2754del (p.Gln917LeufsTer21)
c.787+4344_787+4348del (n.787+4344_787+4348del)
c.2771_2775del (p.Gln924LeufsTer21)
8g.54626633G>ACA461099086RP1c.2751G>A (p.Gln917=)
c.787+4345G>A (n.787+4345G>A)
c.2772G>A (p.Gln924=)
8g.54626633G>CCA370994542RP1c.2751G>C (p.Gln917His)
c.787+4345G>C (n.787+4345G>C)
c.2772G>C (p.Gln924His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626633G=CA1785188417RP1c.2751G= (p.Gln917=)
c.787+4345G= (n.787+4345G=)
c.2772G= (p.Gln924=)
8g.54626633G>TCA370994543RP1c.2751G>T (p.Gln917His)
c.787+4345G>T (n.787+4345G>T)
c.2772G>T (p.Gln924His)
8g.54626634A>CCA370994544RP1c.2752A>C (p.Ser918Arg)
c.787+4346A>C (n.787+4346A>C)
c.2773A>C (p.Ser925Arg)
8g.54626634A>GCA370994545RP1c.2752A>G (p.Ser918Gly)
c.787+4346A>G (n.787+4346A>G)
c.2773A>G (p.Ser925Gly)
8g.54626634A>TCA370994546RP1c.2752A>T (p.Ser918Cys)
c.787+4346A>T (n.787+4346A>T)
c.2773A>T (p.Ser925Cys)
8g.54626635G>ACA370994548RP1c.2753G>A (p.Ser918Asn)
c.787+4347G>A (n.787+4347G>A)
c.2774G>A (p.Ser925Asn)
 gnomAD v4
8g.54626635G>CCA370994549RP1c.2753G>C (p.Ser918Thr)
c.787+4347G>C (n.787+4347G>C)
c.2774G>C (p.Ser925Thr)
8g.54626635G>TCA370994547RP1c.2753G>T (p.Ser918Ile)
c.787+4347G>T (n.787+4347G>T)
c.2774G>T (p.Ser925Ile)
8g.54626636T>ACA370994550RP1c.2754T>A (p.Ser918Arg)
c.787+4348T>A (n.787+4348T>A)
c.2775T>A (p.Ser925Arg)
8g.54626636T>CCA461099090RP1c.2754T>C (p.Ser918=)
c.787+4348T>C (n.787+4348T>C)
c.2775T>C (p.Ser925=)
8g.54626636T>GCA370994551RP1c.2754T>G (p.Ser918Arg)
c.787+4348T>G (n.787+4348T>G)
c.2775T>G (p.Ser925Arg)
8g.54626637T>ACA370994552RP1c.2755T>A (p.Trp919Arg)
c.787+4349T>A (n.787+4349T>A)
c.2776T>A (p.Trp926Arg)
8g.54626637T>CCA370994553RP1c.2755T>C (p.Trp919Arg)
c.787+4349T>C (n.787+4349T>C)
c.2776T>C (p.Trp926Arg)
8g.54626637T>GCA370994554RP1c.2755T>G (p.Trp919Gly)
c.787+4349T>G (n.787+4349T>G)
c.2776T>G (p.Trp926Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.54626637T=CA1785188418RP1c.2755T= (p.Trp919=)
c.787+4349T= (n.787+4349T=)
c.2776T= (p.Trp926=)
8g.54626638G>ACA370994555RP1c.2756G>A (p.Trp919Ter)
c.787+4350G>A (n.787+4350G>A)
c.2777G>A (p.Trp926Ter)
 ClinVar dbSNP gnomAD v4
8g.54626638G>CCA370994556RP1c.2756G>C (p.Trp919Ser)
c.787+4350G>C (n.787+4350G>C)
c.2777G>C (p.Trp926Ser)
8g.54626638G=CA1785188419RP1c.2756G= (p.Trp919=)
c.787+4350G= (n.787+4350G=)
c.2777G= (p.Trp926=)
8g.54626638G>TCA4751580RP1c.2756G>T (p.Trp919Leu)
c.787+4350G>T (n.787+4350G>T)
c.2777G>T (p.Trp926Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626639G>ACA370994557RP1c.2757G>A (p.Trp919Ter)
c.787+4351G>A (n.787+4351G>A)
c.2778G>A (p.Trp926Ter)
 ClinVar dbSNP
8g.54626639G>CCA4751581RP1c.2757G>C (p.Trp919Cys)
c.787+4351G>C (n.787+4351G>C)
c.2778G>C (p.Trp926Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626639G=CA1785188420RP1c.2757G= (p.Trp919=)
c.787+4351G= (n.787+4351G=)
c.2778G= (p.Trp926=)
8g.54626639G>TCA370994558RP1c.2757G>T (p.Trp919Cys)
c.787+4351G>T (n.787+4351G>T)
c.2778G>T (p.Trp926Cys)
 ClinVar dbSNP
8g.54626640T>ACA370994559RP1c.2758T>A (p.Leu920Met)
c.787+4352T>A (n.787+4352T>A)
c.2779T>A (p.Leu927Met)
8g.54626640T>CCA461099092RP1c.2758T>C (p.Leu920=)
c.787+4352T>C (n.787+4352T>C)
c.2779T>C (p.Leu927=)
8g.54626640T>GCA370994560RP1c.2758T>G (p.Leu920Val)
c.787+4352T>G (n.787+4352T>G)
c.2779T>G (p.Leu927Val)
8g.54626641T>ACA370994563RP1c.2759T>A (p.Leu920Ter)
c.787+4353T>A (n.787+4353T>A)
c.2780T>A (p.Leu927Ter)
8g.54626641T>CCA370994562RP1c.2759T>C (p.Leu920Ser)
c.787+4353T>C (n.787+4353T>C)
c.2780T>C (p.Leu927Ser)
8g.54626641T>GCA370994561RP1c.2759T>G (p.Leu920Trp)
c.787+4353T>G (n.787+4353T>G)
c.2780T>G (p.Leu927Trp)
 ClinVar dbSNP
8g.54626641T=CA1785188421RP1c.2759T= (p.Leu920=)
c.787+4353T= (n.787+4353T=)
c.2780T= (p.Leu927=)
8g.54626642G>ACA461099094RP1c.2760G>A (p.Leu920=)
c.787+4354G>A (n.787+4354G>A)
c.2781G>A (p.Leu927=)
 dbSNP gnomAD v4
8g.54626642G>CCA370994564RP1c.2760G>C (p.Leu920Phe)
c.787+4354G>C (n.787+4354G>C)
c.2781G>C (p.Leu927Phe)
8g.54626642G=CA1785188422RP1c.2760G= (p.Leu920=)
c.787+4354G= (n.787+4354G=)
c.2781G= (p.Leu927=)
8g.54626642G>TCA370994565RP1c.2760G>T (p.Leu920Phe)
c.787+4354G>T (n.787+4354G>T)
c.2781G>T (p.Leu927Phe)

Number of alleles fetched