Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135798005C>ACA2661274436LCTc.4976+24G>T (n.4976+24G>T)
c.3069+24G>T (n.3069+24G>T)
 gnomAD v4
2g.135798005C=CA1290826496LCTc.4976+24G= (n.4976+24G=)
c.3069+24G= (n.3069+24G=)
2g.135798005C>TCA56602540LCTc.4976+24G>A (n.4976+24G>A)
c.3069+24G>A (n.3069+24G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.135798006C>ACA1290826498LCTc.4976+23G>T (n.4976+23G>T)
c.3069+23G>T (n.3069+23G>T)
 dbSNP gnomAD v4
2g.135798006C=CA1290826497LCTc.4976+23G= (n.4976+23G=)
c.3069+23G= (n.3069+23G=)
2g.135798006C>TCA536394339LCTc.4976+23G>A (n.4976+23G>A)
c.3069+23G>A (n.3069+23G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135798007A>GCA2661274438LCTc.4976+22T>C (n.4976+22T>C)
c.3069+22T>C (n.3069+22T>C)
 gnomAD v4
2g.135798007A>TCA2577107810LCTc.4976+22T>A (n.4976+22T>A)
c.3069+22T>A (n.3069+22T>A)
 gnomAD v4
2g.135798008C>TCA2661274439LCTc.4976+21G>A (n.4976+21G>A)
c.3069+21G>A (n.3069+21G>A)
 gnomAD v4
2g.135798009T>CCA2661274440LCTc.4976+20A>G (n.4976+20A>G)
c.3069+20A>G (n.3069+20A>G)
 gnomAD v4
2g.135798009T>GCA2661274441LCTc.4976+20A>C (n.4976+20A>C)
c.3069+20A>C (n.3069+20A>C)
 gnomAD v4
2g.135798010G>ACA2661274442LCTc.4976+19C>T (n.4976+19C>T)
c.3069+19C>T (n.3069+19C>T)
 gnomAD v4
2g.135798010G>TCA2661274443LCTc.4976+19C>A (n.4976+19C>A)
c.3069+19C>A (n.3069+19C>A)
 gnomAD v4
2g.135798011delCA2661274444LCTc.4976+18del (n.4976+18del)
c.3069+18del (n.3069+18del)
 gnomAD v4
2g.135798011C>ACA1887724LCTc.4976+18G>T (n.4976+18G>T)
c.3069+18G>T (n.3069+18G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798011C=CA1290826499LCTc.4976+18G= (n.4976+18G=)
c.3069+18G= (n.3069+18G=)
2g.135798011C>GCA2661274445LCTc.4976+18G>C (n.4976+18G>C)
c.3069+18G>C (n.3069+18G>C)
 gnomAD v4
2g.135798011C>TCA536394340LCTc.4976+18G>A (n.4976+18G>A)
c.3069+18G>A (n.3069+18G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135798012G>ACA1887725LCTc.4976+17C>T (n.4976+17C>T)
c.3069+17C>T (n.3069+17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135798012G=CA1290826500LCTc.4976+17C= (n.4976+17C=)
c.3069+17C= (n.3069+17C=)
2g.135798012G>TCA2661274447LCTc.4976+17C>A (n.4976+17C>A)
c.3069+17C>A (n.3069+17C>A)
 gnomAD v4
2g.135798013G>ACA2661274448LCTc.4976+16C>T (n.4976+16C>T)
c.3069+16C>T (n.3069+16C>T)
 gnomAD v4
2g.135798013G>TCA2661274449LCTc.4976+16C>A (n.4976+16C>A)
c.3069+16C>A (n.3069+16C>A)
 gnomAD v4
2g.135798014G>ACA757423522LCTc.4976+15C>T (n.4976+15C>T)
c.3069+15C>T (n.3069+15C>T)
 dbSNP gnomAD v4
2g.135798014G=CA1290826501LCTc.4976+15C= (n.4976+15C=)
c.3069+15C= (n.3069+15C=)
2g.135798014G>TCA2661274450LCTc.4976+15C>A (n.4976+15C>A)
c.3069+15C>A (n.3069+15C>A)
 gnomAD v4
2g.135798015C>TCA2577107811LCTc.4976+14G>A (n.4976+14G>A)
c.3069+14G>A (n.3069+14G>A)
 gnomAD v4
2g.135798016A>GCA2661274451LCTc.4976+13T>C (n.4976+13T>C)
c.3069+13T>C (n.3069+13T>C)
 gnomAD v4
2g.135798016A>TCA2661274452LCTc.4976+13T>A (n.4976+13T>A)
c.3069+13T>A (n.3069+13T>A)
 gnomAD v4
2g.135798017C=CA1290826502LCTc.4976+12G= (n.4976+12G=)
c.3069+12G= (n.3069+12G=)
2g.135798017C>TCA1887726LCTc.4976+12G>A (n.4976+12G>A)
c.3069+12G>A (n.3069+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798018delCA2577107812LCTc.4976+12del (n.4976+12del)
c.3069+12del (n.3069+12del)
 gnomAD v4
2g.135798018C>TCA2661274453LCTc.4976+11G>A (n.4976+11G>A)
c.3069+11G>A (n.3069+11G>A)
 gnomAD v4
2g.135798019A>GCA2661274454LCTc.4976+10T>C (n.4976+10T>C)
c.3069+10T>C (n.3069+10T>C)
 gnomAD v4
2g.135798020G>ACA2661274455LCTc.4976+9C>T (n.4976+9C>T)
c.3069+9C>T (n.3069+9C>T)
 gnomAD v4
2g.135798020G>TCA2661274456LCTc.4976+9C>A (n.4976+9C>A)
c.3069+9C>A (n.3069+9C>A)
 gnomAD v4
2g.135798021G>ACA2661274458LCTc.4976+8C>T (n.4976+8C>T)
c.3069+8C>T (n.3069+8C>T)
 gnomAD v4
2g.135798021G>CCA2661274459LCTc.4976+8C>G (n.4976+8C>G)
c.3069+8C>G (n.3069+8C>G)
 gnomAD v4
2g.135798021G>TCA2661274457LCTc.4976+8C>A (n.4976+8C>A)
c.3069+8C>A (n.3069+8C>A)
 gnomAD v4
2g.135798022C>ACA2661274461LCTc.4976+7G>T (n.4976+7G>T)
c.3069+7G>T (n.3069+7G>T)
 gnomAD v4
2g.135798022C=CA1290826503LCTc.4976+7G= (n.4976+7G=)
c.3069+7G= (n.3069+7G=)
2g.135798022C>TCA757423523LCTc.4976+7G>A (n.4976+7G>A)
c.3069+7G>A (n.3069+7G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.135798024delCA2661274460LCTc.4976+7del (n.4976+7del)
c.3069+7del (n.3069+7del)
 gnomAD v4
2g.135798023C=CA1290826504LCTc.4976+6G= (n.4976+6G=)
c.3069+6G= (n.3069+6G=)
2g.135798023C>TCA1887727LCTc.4976+6G>A (n.4976+6G>A)
c.3069+6G>A (n.3069+6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135798024C>GCA2661274462LCTc.4976+5G>C (n.4976+5G>C)
c.3069+5G>C (n.3069+5G>C)
 gnomAD v4
2g.135798025T>ACA2661274463LCTc.4976+4A>T (n.4976+4A>T)
c.3069+4A>T (n.3069+4A>T)
 gnomAD v4
2g.135798026delCA2577107813LCTc.4976+4del (n.4976+4del)
c.3069+4del (n.3069+4del)
2g.135798027A>CCA348590811LCTc.4976+2T>G (n.4976+2T>G)
c.3069+2T>G (n.3069+2T>G)
2g.135798027A>GCA348590812LCTc.4976+2T>C (n.4976+2T>C)
c.3069+2T>C (n.3069+2T>C)
2g.135798027A>TCA348590813LCTc.4976+2T>A (n.4976+2T>A)
c.3069+2T>A (n.3069+2T>A)
 gnomAD v4
2g.135798027dupCA2528671300LCTc.4976+2dup (n.4976+2dup)
c.3069+2dup (n.3069+2dup)
2g.135798028C>ACA348590814LCTc.4976+1G>T (n.4976+1G>T)
c.3069+1G>T (n.3069+1G>T)
 ClinVar
2g.135798028C>GCA348590815LCTc.4976+1G>C (n.4976+1G>C)
c.3069+1G>C (n.3069+1G>C)
2g.135798028C>TCA348590816LCTc.4976+1G>A (n.4976+1G>A)
c.3069+1G>A (n.3069+1G>A)
 gnomAD v4
2g.135798028_135798038delinsCCGAGACTTGTCA1290826505LCTc.4967_4976+1delinsACAAGTCTCGG
c.3060_3069+1delinsACAAGTCTCGG
2g.135798029C>ACA348590818LCTc.4976G>T (p.Arg1659Leu)
c.3069G>T (n.3069G>T)
2g.135798029C=CA1290826507LCTc.4976G= (p.Arg1659=)
c.3069G= (n.3069G=)
2g.135798029C>GCA348590819LCTc.4976G>C (p.Arg1659Pro)
c.3069G>C (n.3069G>C)
2g.135798029C>TCA348590817LCTc.4976G>A (p.Arg1659Gln)
c.3069G>A (n.3069G>A)
 dbSNP gnomAD v4 COSMIC
2g.135798029_135798038delCA1290826506LCTc.4967_4976del (p.Asn1656SerfsTer?)
c.3060_3069del (n.3060_3069del)
 ClinVar dbSNP gnomAD v4
2g.135798030G>ACA1887728LCTc.4975C>T (p.Arg1659Trp)
c.3068C>T (n.3068C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.135798030G>CCA348590820LCTc.4975C>G (p.Arg1659Gly)
c.3068C>G (n.3068C>G)
2g.135798030G=CA1290826508LCTc.4975C= (p.Arg1659=)
c.3068C= (n.3068C=)
2g.135798030G>TCA429086136LCTc.4975C>A (p.Arg1659=)
c.3068C>A (n.3068C>A)
 gnomAD v4
2g.135798031A>CCA429086137LCTc.4974T>G (p.Ser1658=)
c.3067T>G (n.3067T>G)
2g.135798031A>GCA429086138LCTc.4974T>C (p.Ser1658=)
c.3067T>C (n.3067T>C)
2g.135798031A>TCA429086140LCTc.4974T>A (p.Ser1658=)
c.3067T>A (n.3067T>A)
2g.135798032G>ACA348590821LCTc.4973C>T (p.Ser1658Phe)
c.3066C>T (n.3066C>T)
2g.135798032G>CCA348590822LCTc.4973C>G (p.Ser1658Cys)
c.3066C>G (n.3066C>G)
2g.135798032G>TCA348590823LCTc.4973C>A (p.Ser1658Tyr)
c.3066C>A (n.3066C>A)
 gnomAD v4
2g.135798033A>CCA348590826LCTc.4972T>G (p.Ser1658Ala)
c.3065T>G (n.3065T>G)
2g.135798033A>GCA348590824LCTc.4972T>C (p.Ser1658Pro)
c.3065T>C (n.3065T>C)
2g.135798033A>TCA348590825LCTc.4972T>A (p.Ser1658Thr)
c.3065T>A (n.3065T>A)
2g.135798034C>ACA1887729LCTc.4971G>T (p.Lys1657Asn)
c.3064G>T (n.3064G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798034C=CA1290826509LCTc.4971G= (p.Lys1657=)
c.3064G= (n.3064G=)
2g.135798034C>GCA348590827LCTc.4971G>C (p.Lys1657Asn)
c.3064G>C (n.3064G>C)
2g.135798034C>TCA429086142LCTc.4971G>A (p.Lys1657=)
c.3064G>A (n.3064G>A)
2g.135798035T>ACA348590828LCTc.4970A>T (p.Lys1657Met)
c.3063A>T (n.3063A>T)
2g.135798035T>CCA348590829LCTc.4970A>G (p.Lys1657Arg)
c.3063A>G (n.3063A>G)
2g.135798035T>GCA348590830LCTc.4970A>C (p.Lys1657Thr)
c.3063A>C (n.3063A>C)
2g.135798036T>ACA348590833LCTc.4969A>T (p.Lys1657Ter)
c.3062A>T (n.3062A>T)
2g.135798036T>CCA348590832LCTc.4969A>G (p.Lys1657Glu)
c.3062A>G (n.3062A>G)
2g.135798036T>GCA348590831LCTc.4969A>C (p.Lys1657Gln)
c.3062A>C (n.3062A>C)
2g.135798037G>ACA429086144LCTc.4968C>T (p.Asn1656=)
c.3061C>T (n.3061C>T)
2g.135798037G>CCA1887730LCTc.4968C>G (p.Asn1656Lys)
c.3061C>G (n.3061C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135798037G=CA1290826510LCTc.4968C= (p.Asn1656=)
c.3061C= (n.3061C=)
2g.135798037G>TCA348590834LCTc.4968C>A (p.Asn1656Lys)
c.3061C>A (n.3061C>A)
 gnomAD v4
2g.135798038T>ACA348590835LCTc.4967A>T (p.Asn1656Ile)
c.3060A>T (n.3060A>T)
2g.135798038T>CCA348590836LCTc.4967A>G (p.Asn1656Ser)
c.3060A>G (n.3060A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.135798038T>GCA348590837LCTc.4967A>C (p.Asn1656Thr)
c.3060A>C (n.3060A>C)
2g.135798038T=CA1290826511LCTc.4967A= (p.Asn1656=)
c.3060A= (n.3060A=)
2g.135798039T>ACA348590838LCTc.4966A>T (p.Asn1656Tyr)
c.3059A>T (n.3059A>T)
2g.135798039T>CCA348590839LCTc.4966A>G (p.Asn1656Asp)
c.3059A>G (n.3059A>G)
2g.135798039T>GCA348590840LCTc.4966A>C (p.Asn1656His)
c.3059A>C (n.3059A>C)
2g.135798040G>ACA429086145LCTc.4965C>T (p.Leu1655=)
c.3058C>T (n.3058C>T)
 gnomAD v4
2g.135798040G>CCA429086146LCTc.4965C>G (p.Leu1655=)
c.3058C>G (n.3058C>G)
2g.135798040G>TCA429086148LCTc.4965C>A (p.Leu1655=)
c.3058C>A (n.3058C>A)
2g.135798041A>CCA348590841LCTc.4964T>G (p.Leu1655Arg)
c.3057T>G (n.3057T>G)
2g.135798041A>GCA348590842LCTc.4964T>C (p.Leu1655Pro)
c.3057T>C (n.3057T>C)
2g.135798041A>TCA348590843LCTc.4964T>A (p.Leu1655His)
c.3057T>A (n.3057T>A)
 gnomAD v4
2g.135798041_135798042delinsAGCA1290826512LCTc.4963_4964delinsCT (p.Leu1655=)
c.3056_3057delinsCT (n.3056_3057delinsCT)
2g.135798042G>ACA56602607LCTc.4963C>T (p.Leu1655Phe)
c.3056C>T (n.3056C>T)
 dbSNP
2g.135798042G>CCA348590844LCTc.4963C>G (p.Leu1655Val)
c.3056C>G (n.3056C>G)
2g.135798042G=CA1290826513LCTc.4963C= (p.Leu1655=)
c.3056C= (n.3056C=)
2g.135798042G>TCA348590845LCTc.4963C>A (p.Leu1655Ile)
c.3056C>A (n.3056C>A)
 gnomAD v4
2g.135798043delCA56602602LCTc.4963del (p.Leu1655SerfsTer?)
c.3056del (n.3056del)
 dbSNP
2g.135798043G>ACA429086151LCTc.4962C>T (p.Gly1654=)
c.3055C>T (n.3055C>T)
2g.135798043G>CCA429086150LCTc.4962C>G (p.Gly1654=)
c.3055C>G (n.3055C>G)
2g.135798043G=CA1290826514LCTc.4962C= (p.Gly1654=)
c.3055C= (n.3055C=)
2g.135798043G>TCA56602628LCTc.4962C>A (p.Gly1654=)
c.3055C>A (n.3055C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.135798044C>ACA348590848LCTc.4961G>T (p.Gly1654Val)
c.3054G>T (n.3054G>T)
2g.135798044C>GCA348590846LCTc.4961G>C (p.Gly1654Ala)
c.3054G>C (n.3054G>C)
2g.135798044C>TCA348590847LCTc.4961G>A (p.Gly1654Asp)
c.3054G>A (n.3054G>A)
 gnomAD v4
2g.135798045C>ACA348590849LCTc.4960G>T (p.Gly1654Cys)
c.3053G>T (n.3053G>T)
2g.135798045C=CA1290826515LCTc.4960G= (p.Gly1654=)
c.3053G= (n.3053G=)
2g.135798045C>GCA348590850LCTc.4960G>C (p.Gly1654Arg)
c.3053G>C (n.3053G>C)
2g.135798045C>TCA348590851LCTc.4960G>A (p.Gly1654Ser)
c.3053G>A (n.3053G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.135798046T>ACA429086155LCTc.4959A>T (p.Ala1653=)
c.3052A>T (n.3052A>T)
2g.135798046T>CCA429086154LCTc.4959A>G (p.Ala1653=)
c.3052A>G (n.3052A>G)
2g.135798046T>GCA429086153LCTc.4959A>C (p.Ala1653=)
c.3052A>C (n.3052A>C)
2g.135798047G>ACA348590852LCTc.4958C>T (p.Ala1653Val)
c.3051C>T (n.3051C>T)
2g.135798047G>CCA348590853LCTc.4958C>G (p.Ala1653Gly)
c.3051C>G (n.3051C>G)
2g.135798047G>TCA348590854LCTc.4958C>A (p.Ala1653Glu)
c.3051C>A (n.3051C>A)
2g.135798048C>ACA348590855LCTc.4957G>T (p.Ala1653Ser)
c.3050G>T (n.3050G>T)
2g.135798048C>GCA348590856LCTc.4957G>C (p.Ala1653Pro)
c.3050G>C (n.3050G>C)
2g.135798048C>TCA348590857LCTc.4957G>A (p.Ala1653Thr)
c.3050G>A (n.3050G>A)
2g.135798049A>CCA429086157LCTc.4956T>G (p.Ala1652=)
c.3049T>G (n.3049T>G)
2g.135798049A>GCA429086159LCTc.4956T>C (p.Ala1652=)
c.3049T>C (n.3049T>C)
2g.135798049A>TCA429086158LCTc.4956T>A (p.Ala1652=)
c.3049T>A (n.3049T>A)
2g.135798050G>ACA348590858LCTc.4955C>T (p.Ala1652Val)
c.3048C>T (n.3048C>T)
 gnomAD v4
2g.135798050G>CCA348590859LCTc.4955C>G (p.Ala1652Gly)
c.3048C>G (n.3048C>G)
2g.135798050G>TCA348590860LCTc.4955C>A (p.Ala1652Asp)
c.3048C>A (n.3048C>A)
 gnomAD v4
2g.135798051C>ACA348590863LCTc.4954G>T (p.Ala1652Ser)
c.3047G>T (n.3047G>T)
2g.135798051C>GCA348590862LCTc.4954G>C (p.Ala1652Pro)
c.3047G>C (n.3047G>C)
 gnomAD v4
2g.135798051C>TCA348590861LCTc.4954G>A (p.Ala1652Thr)
c.3047G>A (n.3047G>A)
 gnomAD v4
2g.135798052C>ACA348590865LCTc.4953G>T (p.Leu1651Phe)
c.3046G>T (n.3046G>T)
2g.135798052C>GCA348590864LCTc.4953G>C (p.Leu1651Phe)
c.3046G>C (n.3046G>C)
 gnomAD v4
2g.135798052C>TCA429086161LCTc.4953G>A (p.Leu1651=)
c.3046G>A (n.3046G>A)
 gnomAD v4
2g.135798053A>CCA348590866LCTc.4952T>G (p.Leu1651Trp)
c.3045T>G (n.3045T>G)
2g.135798053A>GCA348590867LCTc.4952T>C (p.Leu1651Ser)
c.3045T>C (n.3045T>C)
2g.135798053A>TCA348590868LCTc.4952T>A (p.Leu1651Ter)
c.3045T>A (n.3045T>A)
2g.135798054A>CCA348590869LCTc.4951T>G (p.Leu1651Val)
c.3044T>G (n.3044T>G)
2g.135798054A>GCA429086162LCTc.4951T>C (p.Leu1651=)
c.3044T>C (n.3044T>C)
2g.135798054A>TCA348590870LCTc.4951T>A (p.Leu1651Met)
c.3044T>A (n.3044T>A)
2g.135798055G>ACA429086163LCTc.4950C>T (p.Ser1650=)
c.3043C>T (n.3043C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135798055G>CCA348590871LCTc.4950C>G (p.Ser1650Arg)
c.3043C>G (n.3043C>G)
2g.135798055G=CA1290826516LCTc.4950C= (p.Ser1650=)
c.3043C= (n.3043C=)
2g.135798055G>TCA348590872LCTc.4950C>A (p.Ser1650Arg)
c.3043C>A (n.3043C>A)
 ClinVar dbSNP gnomAD v4
2g.[135798055G>T;135804868G>A]CA1139767761LCTc.[4363C>T;4950C>A] (p.[Arg1455Cys;Ser1650Arg])
c.[2659C>T;3043C>A] ([p.Arg887Cys;n.3043C>A])
2g.135798056C>ACA348590873LCTc.4949G>T (p.Ser1650Ile)
c.3042G>T (n.3042G>T)
2g.135798056C>GCA348590874LCTc.4949G>C (p.Ser1650Thr)
c.3042G>C (n.3042G>C)
2g.135798056C>TCA348590875LCTc.4949G>A (p.Ser1650Asn)
c.3042G>A (n.3042G>A)
 gnomAD v4
2g.135798057T>ACA348590876LCTc.4948A>T (p.Ser1650Cys)
c.3041A>T (n.3041A>T)
2g.135798057T>CCA348590877LCTc.4948A>G (p.Ser1650Gly)
c.3041A>G (n.3041A>G)
2g.135798057T>GCA348590878LCTc.4948A>C (p.Ser1650Arg)
c.3041A>C (n.3041A>C)
2g.135798058C>ACA1887731LCTc.4947G>T (p.Arg1649Ser)
c.3040G>T (n.3040G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798058C=CA1290826517LCTc.4947G= (p.Arg1649=)
c.3040G= (n.3040G=)
2g.135798058C>GCA348590879LCTc.4947G>C (p.Arg1649Ser)
c.3040G>C (n.3040G>C)
2g.135798058C>TCA429086165LCTc.4947G>A (p.Arg1649=)
c.3040G>A (n.3040G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.135798059C>ACA348590880LCTc.4946G>T (p.Arg1649Met)
c.3039G>T (n.3039G>T)
2g.135798059C>GCA348590881LCTc.4946G>C (p.Arg1649Thr)
c.3039G>C (n.3039G>C)
2g.135798059C>TCA348590882LCTc.4946G>A (p.Arg1649Lys)
c.3039G>A (n.3039G>A)
 gnomAD v4
2g.135798060T>ACA348590883LCTc.4945A>T (p.Arg1649Trp)
c.3038A>T (n.3038A>T)
 gnomAD v4
2g.135798060T>CCA348590884LCTc.4945A>G (p.Arg1649Gly)
c.3038A>G (n.3038A>G)
2g.135798060T>GCA429086167LCTc.4945A>C (p.Arg1649=)
c.3038A>C (n.3038A>C)
 COSMIC
2g.135798061G>ACA429086168LCTc.4944C>T (p.Asp1648=)
c.3037C>T (n.3037C>T)
2g.135798061G>CCA348590885LCTc.4944C>G (p.Asp1648Glu)
c.3037C>G (n.3037C>G)
 gnomAD v4
2g.135798061G>TCA348590886LCTc.4944C>A (p.Asp1648Glu)
c.3037C>A (n.3037C>A)
2g.135798062T>ACA348590887LCTc.4943A>T (p.Asp1648Val)
c.3036A>T (n.3036A>T)
 gnomAD v3 gnomAD v4
2g.135798062T>CCA56602642LCTc.4943A>G (p.Asp1648Gly)
c.3036A>G (n.3036A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135798062T>GCA348590888LCTc.4943A>C (p.Asp1648Ala)
c.3036A>C (n.3036A>C)
2g.135798062T=CA1290826518LCTc.4943A= (p.Asp1648=)
c.3036A= (n.3036A=)
2g.135798063C>ACA348590889LCTc.4942G>T (p.Asp1648Tyr)
c.3035G>T (n.3035G>T)
2g.135798063C=CA1290826519LCTc.4942G= (p.Asp1648=)
c.3035G= (n.3035G=)
2g.135798063C>GCA1887732LCTc.4942G>C (p.Asp1648His)
c.3035G>C (n.3035G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798063C>TCA348590890LCTc.4942G>A (p.Asp1648Asn)
c.3035G>A (n.3035G>A)
2g.135798064A>CCA429086172LCTc.4941T>G (p.Arg1647=)
c.3034T>G (n.3034T>G)
2g.135798064A>GCA429086170LCTc.4941T>C (p.Arg1647=)
c.3034T>C (n.3034T>C)
 gnomAD v3 gnomAD v4
2g.135798064A>TCA429086171LCTc.4941T>A (p.Arg1647=)
c.3034T>A (n.3034T>A)
2g.135798065C>ACA348590891LCTc.4940G>T (p.Arg1647Leu)
c.3033G>T (n.3033G>T)
2g.135798065C=CA1290826520LCTc.4940G= (p.Arg1647=)
c.3033G= (n.3033G=)
2g.135798065C>GCA348590892LCTc.4940G>C (p.Arg1647Pro)
c.3033G>C (n.3033G>C)
2g.135798065C>TCA1887733LCTc.4940G>A (p.Arg1647His)
c.3033G>A (n.3033G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798066G>ACA1887734LCTc.4939C>T (p.Arg1647Cys)
c.3032C>T (n.3032C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798066G>CCA348590894LCTc.4939C>G (p.Arg1647Gly)
c.3032C>G (n.3032C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.135798066G=CA1290826521LCTc.4939C= (p.Arg1647=)
c.3032C= (n.3032C=)
2g.135798066G>TCA348590893LCTc.4939C>A (p.Arg1647Ser)
c.3032C>A (n.3032C>A)
 gnomAD v4
2g.135798067G>ACA429086174LCTc.4938C>T (p.Ile1646=)
c.3031C>T (n.3031C>T)
2g.135798067G>CCA348590895LCTc.4938C>G (p.Ile1646Met)
c.3031C>G (n.3031C>G)
2g.135798067G>TCA429086175LCTc.4938C>A (p.Ile1646=)
c.3031C>A (n.3031C>A)
 gnomAD v4
2g.135798068A>CCA348590896LCTc.4937T>G (p.Ile1646Ser)
c.3030T>G (n.3030T>G)
2g.135798068A>GCA348590897LCTc.4937T>C (p.Ile1646Thr)
c.3030T>C (n.3030T>C)
2g.135798068A>TCA348590898LCTc.4937T>A (p.Ile1646Asn)
c.3030T>A (n.3030T>A)
2g.135798069T>ACA348590899LCTc.4936A>T (p.Ile1646Phe)
c.3029A>T (n.3029A>T)
2g.135798069T>CCA348590900LCTc.4936A>G (p.Ile1646Val)
c.3029A>G (n.3029A>G)
2g.135798069T>GCA348590901LCTc.4936A>C (p.Ile1646Leu)
c.3029A>C (n.3029A>C)
2g.135798069T=CA1290826522LCTc.4936A= (p.Ile1646=)
c.3029A= (n.3029A=)
2g.135798070C>ACA429086177LCTc.4935G>T (p.Arg1645=)
c.3028G>T (n.3028G>T)
2g.135798070C>GCA429086178LCTc.4935G>C (p.Arg1645=)
c.3028G>C (n.3028G>C)
2g.135798070C>TCA429086179LCTc.4935G>A (p.Arg1645=)
c.3028G>A (n.3028G>A)
2g.135798075_135798076insATTCATCACCGCGTCA1887735LCTc.4935_4936insTGATGAATACGCGG (p.Ile1646Ter)
c.3028_3029insTGATGAATACGCGG (n.3028_3029insTGATGAATACGCGG)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.135798071C>ACA348590902LCTc.4934G>T (p.Arg1645Leu)
c.3027G>T (n.3027G>T)
2g.135798071C=CA1290826523LCTc.4934G= (p.Arg1645=)
c.3027G= (n.3027G=)
2g.135798071C>GCA348590903LCTc.4934G>C (p.Arg1645Pro)
c.3027G>C (n.3027G>C)
 COSMIC
2g.135798071C>TCA1887736LCTc.4934G>A (p.Arg1645Gln)
c.3027G>A (n.3027G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135798072G>ACA348590905LCTc.4933C>T (p.Arg1645Trp)
c.3026C>T (n.3026C>T)
 gnomAD v4
2g.135798072G>CCA348590904LCTc.4933C>G (p.Arg1645Gly)
c.3026C>G (n.3026C>G)
2g.135798072G>TCA429086180LCTc.4933C>A (p.Arg1645=)
c.3026C>A (n.3026C>A)
 gnomAD v4
2g.135798073C>ACA429086182LCTc.4932G>T (p.Thr1644=)
c.3025G>T (n.3025G>T)
2g.135798073C=CA1290826524LCTc.4932G= (p.Thr1644=)
c.3025G= (n.3025G=)
2g.135798073C>GCA429086183LCTc.4932G>C (p.Thr1644=)
c.3025G>C (n.3025G>C)
2g.135798073C>TCA1887737LCTc.4932G>A (p.Thr1644=)
c.3025G>A (n.3025G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798074G>ACA56602692LCTc.4931C>T (p.Thr1644Met)
c.3024C>T (n.3024C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135798074G>CCA348590906LCTc.4931C>G (p.Thr1644Arg)
c.3024C>G (n.3024C>G)
2g.135798074G=CA1290826525LCTc.4931C= (p.Thr1644=)
c.3024C= (n.3024C=)
2g.135798074G>TCA348590907LCTc.4931C>A (p.Thr1644Lys)
c.3024C>A (n.3024C>A)
 gnomAD v4
2g.135798075T>ACA348590908LCTc.4930A>T (p.Thr1644Ser)
c.3023A>T (n.3023A>T)
 gnomAD v4
2g.135798075T>CCA348590909LCTc.4930A>G (p.Thr1644Ala)
c.3023A>G (n.3023A>G)
2g.135798075T>GCA348590910LCTc.4930A>C (p.Thr1644Pro)
c.3023A>C (n.3023A>C)
2g.135798077_135798079delCA2577107814LCTc.4928_4930del (p.Lys1643del)
c.3021_3023del (n.3021_3023del)
2g.135798076C>ACA348590911LCTc.4929G>T (p.Lys1643Asn)
c.3022G>T (n.3022G>T)
2g.135798076C>GCA348590912LCTc.4929G>C (p.Lys1643Asn)
c.3022G>C (n.3022G>C)
2g.135798076C>TCA429086185LCTc.4929G>A (p.Lys1643=)
c.3022G>A (n.3022G>A)
2g.135798077T>ACA348590913LCTc.4928A>T (p.Lys1643Met)
c.3021A>T (n.3021A>T)
2g.135798077T>CCA348590914LCTc.4928A>G (p.Lys1643Arg)
c.3021A>G (n.3021A>G)
2g.135798077T>GCA348590915LCTc.4928A>C (p.Lys1643Thr)
c.3021A>C (n.3021A>C)
2g.135798078T>ACA348590917LCTc.4927A>T (p.Lys1643Ter)
c.3020A>T (n.3020A>T)
2g.135798078T>CCA348590918LCTc.4927A>G (p.Lys1643Glu)
c.3020A>G (n.3020A>G)
2g.135798078T>GCA348590916LCTc.4927A>C (p.Lys1643Gln)
c.3020A>C (n.3020A>C)
2g.135798079C>ACA1887738LCTc.4926G>T (p.Met1642Ile)
c.3019G>T (n.3019G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798079C=CA1290826526LCTc.4926G= (p.Met1642=)
c.3019G= (n.3019G=)
2g.135798079C>GCA348590919LCTc.4926G>C (p.Met1642Ile)
c.3019G>C (n.3019G>C)
2g.135798079C>TCA348590920LCTc.4926G>A (p.Met1642Ile)
c.3019G>A (n.3019G>A)
 gnomAD v4
2g.135798080A>CCA348590921LCTc.4925T>G (p.Met1642Arg)
c.3018T>G (n.3018T>G)
2g.135798080A>GCA348590922LCTc.4925T>C (p.Met1642Thr)
c.3018T>C (n.3018T>C)
2g.135798080A>TCA348590923LCTc.4925T>A (p.Met1642Lys)
c.3018T>A (n.3018T>A)
2g.135798081T>ACA1887739LCTc.4924A>T (p.Met1642Leu)
c.3017A>T (n.3017A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798081T>CCA348590924LCTc.4924A>G (p.Met1642Val)
c.3017A>G (n.3017A>G)
2g.135798081T>GCA348590925LCTc.4924A>C (p.Met1642Leu)
c.3017A>C (n.3017A>C)
2g.135798081T=CA1290826527LCTc.4924A= (p.Met1642=)
c.3017A= (n.3017A=)
2g.135798082C>ACA429086190LCTc.4923G>T (p.Val1641=)
c.3016G>T (n.3016G>T)
2g.135798082C>GCA429086191LCTc.4923G>C (p.Val1641=)
c.3016G>C (n.3016G>C)
2g.135798082C>TCA429086192LCTc.4923G>A (p.Val1641=)
c.3016G>A (n.3016G>A)
2g.135798083A=CA1290826528LCTc.4922T= (p.Val1641=)
c.3015T= (n.3015T=)
2g.135798083A>CCA348590926LCTc.4922T>G (p.Val1641Gly)
c.3015T>G (n.3015T>G)
2g.135798083A>GCA1887740LCTc.4922T>C (p.Val1641Ala)
c.3015T>C (n.3015T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798083A>TCA348590927LCTc.4922T>A (p.Val1641Glu)
c.3015T>A (n.3015T>A)
2g.135798084C>ACA348590929LCTc.4921G>T (p.Val1641Leu)
c.3014G>T (n.3014G>T)
2g.135798084C=CA1290826529LCTc.4921G= (p.Val1641=)
c.3014G= (n.3014G=)
2g.135798084C>GCA348590930LCTc.4921G>C (p.Val1641Leu)
c.3014G>C (n.3014G>C)
2g.135798084C>TCA348590928LCTc.4921G>A (p.Val1641Met)
c.3014G>A (n.3014G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.135798085C>ACA348590931LCTc.4920G>T (p.Glu1640Asp)
c.3013G>T (n.3013G>T)
 gnomAD v4
2g.135798085C>GCA348590932LCTc.4920G>C (p.Glu1640Asp)
c.3013G>C (n.3013G>C)
2g.135798085C>TCA429086193LCTc.4920G>A (p.Glu1640=)
c.3013G>A (n.3013G>A)
 gnomAD v4
2g.135798086T>ACA348590933LCTc.4919A>T (p.Glu1640Val)
c.3012A>T (p.Ter1004Cys)
 gnomAD v4
2g.135798086T>CCA348590934LCTc.4919A>G (p.Glu1640Gly)
c.3012A>G (p.Ter1004Trp)
2g.135798086T>GCA348590935LCTc.4919A>C (p.Glu1640Ala)
c.3012A>C (p.Ter1004Cys)
2g.135798087C>ACA348590938LCTc.4918G>T (p.Glu1640Ter)
c.3011G>T (p.Ter1004Leu)
2g.135798087C>GCA348590936LCTc.4918G>C (p.Glu1640Gln)
c.3011G>C (p.Ter1004Ser)
2g.135798087C>TCA348590937LCTc.4918G>A (p.Glu1640Lys)
c.3011G>A (p.Ter1004=)
 gnomAD v4
2g.135798088A>CCA348590939LCTc.4917T>G (p.Asn1639Lys)
c.3010T>G (p.Ter1004Gly)
2g.135798088A>GCA429086197LCTc.4917T>C (p.Asn1639=)
c.3010T>C (p.Ter1004Arg)
2g.135798088A>TCA348590940LCTc.4917T>A (p.Asn1639Lys)
c.3010T>A (p.Ter1004Arg)
2g.135798088_135798089insCGCA2560266324LCTc.4916_4917insCG (p.Glu1640ValfsTer3)
c.3009_3010insCG (p.Ter1004ArgextTer?)
2g.135798089T>ACA348590941LCTc.4916A>T (p.Asn1639Ile)
c.3009A>T (p.Gln1003His)
2g.135798089T>CCA1887741LCTc.4916A>G (p.Asn1639Ser)
c.3009A>G (p.Gln1003=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798089T>GCA348590942LCTc.4916A>C (p.Asn1639Thr)
c.3009A>C (p.Gln1003His)
2g.135798089T=CA1290826530LCTc.4916A= (p.Asn1639=)
c.3009A= (p.Gln1003=)
2g.135798090T>ACA348590943LCTc.4915A>T (p.Asn1639Tyr)
c.3008A>T (p.Gln1003Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135798090T>CCA348590945LCTc.4915A>G (p.Asn1639Asp)
c.3008A>G (p.Gln1003Arg)
 COSMIC
2g.135798090T>GCA348590944LCTc.4915A>C (p.Asn1639His)
c.3008A>C (p.Gln1003Pro)
2g.135798090T=CA1290826531LCTc.4915A= (p.Asn1639=)
c.3008A= (p.Gln1003=)
2g.135798091G>ACA429086201LCTc.4914C>T (p.Tyr1638=)
c.3007C>T (p.Gln1003Ter)
 gnomAD v4
2g.135798091G>CCA348590946LCTc.4914C>G (p.Tyr1638Ter)
c.3007C>G (p.Gln1003Glu)
2g.135798091G>TCA348590947LCTc.4914C>A (p.Tyr1638Ter)
c.3007C>A (p.Gln1003Lys)
2g.135798092T>ACA348590948LCTc.4913A>T (p.Tyr1638Phe)
c.3006A>T (p.Leu1002Phe)
2g.135798092T>CCA348590949LCTc.4913A>G (p.Tyr1638Cys)
c.3006A>G (p.Leu1002=)
 dbSNP gnomAD v4
2g.135798092T>GCA348590950LCTc.4913A>C (p.Tyr1638Ser)
c.3006A>C (p.Leu1002Phe)
2g.135798093A>CCA348590951LCTc.4912T>G (p.Tyr1638Asp)
c.3005T>G (p.Leu1002Ter)
2g.135798093A>GCA348590952LCTc.4912T>C (p.Tyr1638His)
c.3005T>C (p.Leu1002Ser)
2g.135798093A>TCA348590953LCTc.4912T>A (p.Tyr1638Asn)
c.3005T>A (p.Leu1002Ter)
2g.135798094delCA2661274466LCTc.4912del (p.Tyr1638ThrfsTer4)
c.3005del (p.Leu1002TyrfsTer?)
 gnomAD v4
2g.135798094A>CCA348590955LCTc.4911T>G (p.Asp1637Glu)
c.3004T>G (p.Leu1002Val)
2g.135798094A>GCA429086204LCTc.4911T>C (p.Asp1637=)
c.3004T>C (p.Leu1002=)
2g.135798094A>TCA348590954LCTc.4911T>A (p.Asp1637Glu)
c.3004T>A (p.Leu1002Ile)
2g.135798095T>ACA348590956LCTc.4910A>T (p.Asp1637Val)
c.3003A>T (p.Arg1001Ser)
2g.135798095T>CCA348590957LCTc.4910A>G (p.Asp1637Gly)
c.3003A>G (p.Arg1001=)
2g.135798095T>GCA348590958LCTc.4910A>C (p.Asp1637Ala)
c.3003A>C (p.Arg1001Ser)
2g.135798096C>ACA348590959LCTc.4909G>T (p.Asp1637Tyr)
c.3002G>T (p.Arg1001Ile)
2g.135798096C>GCA348590960LCTc.4909G>C (p.Asp1637His)
c.3002G>C (p.Arg1001Thr)
 gnomAD v4
2g.135798096C>TCA348590961LCTc.4909G>A (p.Asp1637Asn)
c.3002G>A (p.Arg1001Lys)
2g.135798097T>ACA429086206LCTc.4908A>T (p.Gly1636=)
c.3001A>T (p.Arg1001Ter)
2g.135798097T>CCA429086207LCTc.4908A>G (p.Gly1636=)
c.3001A>G (p.Arg1001Gly)
2g.135798097T>GCA429086208LCTc.4908A>C (p.Gly1636=)
c.3001A>C (p.Arg1001=)
2g.135798098C>ACA348590964LCTc.4907G>T (p.Gly1636Val)
c.3000G>T (p.Trp1000Cys)
2g.135798098C>GCA348590962LCTc.4907G>C (p.Gly1636Ala)
c.3000G>C (p.Trp1000Cys)
2g.135798098C>TCA348590963LCTc.4907G>A (p.Gly1636Glu)
c.3000G>A (p.Trp1000Ter)
2g.135798099C>ACA348590965LCTc.4906G>T (p.Gly1636Ter)
c.2999G>T (p.Trp1000Leu)
2g.135798099C>GCA348590966LCTc.4906G>C (p.Gly1636Arg)
c.2999G>C (p.Trp1000Ser)
2g.135798099C>TCA348590967LCTc.4906G>A (p.Gly1636Arg)
c.2999G>A (p.Trp1000Ter)
 gnomAD v4
2g.135798100A=CA1290826532LCTc.4905T= (p.Asn1635=)
c.2998T= (p.Trp1000=)
2g.135798100A>CCA348590968LCTc.4905T>G (p.Asn1635Lys)
c.2998T>G (p.Trp1000Gly)
 gnomAD v4
2g.135798100A>GCA429086210LCTc.4905T>C (p.Asn1635=)
c.2998T>C (p.Trp1000Arg)
 dbSNP
2g.135798100A>TCA56602751LCTc.4905T>A (p.Asn1635Lys)
c.2998T>A (p.Trp1000Arg)
 dbSNP
2g.135798101T>ACA348590969LCTc.4904A>T (p.Asn1635Ile)
c.2997A>T (p.Glu999Asp)
2g.135798101T>CCA348590970LCTc.4904A>G (p.Asn1635Ser)
c.2997A>G (p.Glu999=)
2g.135798101T>GCA348590971LCTc.4904A>C (p.Asn1635Thr)
c.2997A>C (p.Glu999Asp)
2g.135798102T>ACA348590972LCTc.4903A>T (p.Asn1635Tyr)
c.2996A>T (p.Glu999Val)
2g.135798102T>CCA348590973LCTc.4903A>G (p.Asn1635Asp)
c.2996A>G (p.Glu999Gly)
2g.135798102T>GCA348590974LCTc.4903A>C (p.Asn1635His)
c.2996A>C (p.Glu999Ala)
2g.135798103C>ACA348590975LCTc.4902G>T (p.Lys1634Asn)
c.2995G>T (p.Glu999Ter)
2g.135798103C>GCA348590976LCTc.4902G>C (p.Lys1634Asn)
c.2995G>C (p.Glu999Gln)
2g.135798103C>TCA429086214LCTc.4902G>A (p.Lys1634=)
c.2995G>A (p.Glu999Lys)
 ClinVar
2g.135798104T>ACA348590979LCTc.4901A>T (p.Lys1634Met)
c.2994A>T (p.Gln998His)
2g.135798104T>CCA348590977LCTc.4901A>G (p.Lys1634Arg)
c.2994A>G (p.Gln998=)
2g.135798104T>GCA348590978LCTc.4901A>C (p.Lys1634Thr)
c.2994A>C (p.Gln998His)
2g.135798105T>ACA348590980LCTc.4900A>T (p.Lys1634Ter)
c.2993A>T (p.Gln998Leu)
2g.135798105T>CCA348590981LCTc.4900A>G (p.Lys1634Glu)
c.2993A>G (p.Gln998Arg)
2g.135798105T>GCA348590982LCTc.4900A>C (p.Lys1634Gln)
c.2993A>C (p.Gln998Pro)

Number of alleles fetched