Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.96160226_96160256delCA2687993804GDF6c.406+42_406+72del (n.406+42_406+72del)
gnomAD v4
8g.96160232_96160235dupCA1116871900GDF6c.406+54_406+57dup (n.406+54_406+57dup)
dbSNP gnomAD v3 gnomAD v4
8g.96160233C>TCA2687993820GDF6c.406+54G>A (n.406+54G>A)
gnomAD v4
8g.96160235T>CCA857236023GDF6c.406+52A>G (n.406+52A>G)
dbSNP gnomAD v3 gnomAD v4
8g.96160235T>GCA2687993821GDF6c.406+52A>C (n.406+52A>C)
gnomAD v4
8g.96160235T=CA1804283893GDF6c.406+52A= (n.406+52A=)
8g.96160236G>TCA2687993822GDF6c.406+51C>A (n.406+51C>A)
gnomAD v4
8g.96160237G=CA1804283896GDF6c.406+50C= (n.406+50C=)
8g.96160237G>TCA4815477GDF6c.406+50C>A (n.406+50C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160240G>TCA2687993823GDF6c.406+47C>A (n.406+47C>A)
gnomAD v4
8g.96160241C>ACA2579211211GDF6c.406+46G>T (n.406+46G>T)
gnomAD v4
8g.96160241C>TCA2687993824GDF6c.406+46G>A (n.406+46G>A)
gnomAD v4
8g.96160242C=CA1804283904GDF6c.406+45G= (n.406+45G=)
8g.96160242C>GCA2781386066GDF6c.406+45G>C (n.406+45G>C)
8g.96160242C>TCA583845615GDF6c.406+45G>A (n.406+45G>A)
dbSNP gnomAD v2 gnomAD v4
8g.96160243G>ACA2687993825GDF6c.406+44C>T (n.406+44C>T)
gnomAD v4
8g.96160243G>CCA583845616GDF6c.406+44C>G (n.406+44C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96160243G=CA1804283908GDF6c.406+44C= (n.406+44C=)
8g.96160243G>TCA2687993826GDF6c.406+44C>A (n.406+44C>A)
gnomAD v4
8g.96160245G>ACA4815478GDF6c.406+42C>T (n.406+42C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160245G=CA1804283911GDF6c.406+42C= (n.406+42C=)
8g.96160245G>TCA2579211212GDF6c.406+42C>A (n.406+42C>A)
gnomAD v4
8g.96160248C>TCA2579211213GDF6c.406+39G>A (n.406+39G>A)
8g.96160251G>CCA4815479GDF6c.406+36C>G (n.406+36C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160251G=CA1804283914GDF6c.406+36C= (n.406+36C=)
8g.96160252C>ACA181488413GDF6c.406+35G>T (n.406+35G>T)
dbSNP gnomAD v4
8g.96160252C=CA1804283919GDF6c.406+35G= (n.406+35G=)
8g.96160252_96160253delinsCGCA1804283923GDF6c.406+34_406+35delinsCG (n.406+34_406+35delinsCG)
8g.96160253G>ACA652573469GDF6c.406+34C>T (n.406+34C>T)
COSMIC
8g.96160253G>TCA2579211214GDF6c.406+34C>A (n.406+34C>A)
gnomAD v4
8g.96160255delCA1804283930GDF6c.406+34del (n.406+34del)
dbSNP
8g.96160254G>CCA857236029GDF6c.406+33C>G (n.406+33C>G)
dbSNP
8g.96160254G=CA1804283934GDF6c.406+33C= (n.406+33C=)
8g.96160255G>CCA2579211215GDF6c.406+32C>G (n.406+32C>G)
8g.96160256dupCA2579211216GDF6c.406+31dup (n.406+31dup)
8g.96160257G>ACA1804283940GDF6c.406+30C>T (n.406+30C>T)
dbSNP gnomAD v4
8g.96160257G=CA1804283938GDF6c.406+30C= (n.406+30C=)
8g.96160258G>TCA2781386067GDF6c.406+29C>A (n.406+29C>A)
8g.96160259G>ACA2580838494GDF6c.406+28C>T (n.406+28C>T)
gnomAD v4
8g.96160259G>CCA2580838495GDF6c.406+28C>G (n.406+28C>G)
8g.96160259G=CA1804283945GDF6c.406+28C= (n.406+28C=)
8g.96160259G>TCA4815480GDF6c.406+28C>A (n.406+28C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160260G>ACA4815481GDF6c.406+27C>T (n.406+27C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160260G>CCA857236039GDF6c.406+27C>G (n.406+27C>G)
dbSNP gnomAD v3 gnomAD v4
8g.96160260G=CA1804283955GDF6c.406+27C= (n.406+27C=)
8g.96160262G=CA1804283963GDF6c.406+25C= (n.406+25C=)
8g.96160262G>TCA4815482GDF6c.406+25C>A (n.406+25C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.96160264C>ACA2687993828GDF6c.406+23G>T (n.406+23G>T)
gnomAD v4
8g.96160264C>GCA2579211217GDF6c.406+23G>C (n.406+23G>C)
8g.96160264C>TCA2579211218GDF6c.406+23G>A (n.406+23G>A)
8g.96160265G>CCA583845617GDF6c.406+22C>G (n.406+22C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96160265G=CA1804283964GDF6c.406+22C= (n.406+22C=)
8g.96160265G>TCA2687993829GDF6c.406+22C>A (n.406+22C>A)
gnomAD v4
8g.96160267G>ACA2687993830GDF6c.406+20C>T (n.406+20C>T)
gnomAD v4
8g.96160267G>TCA2781386068GDF6c.406+20C>A (n.406+20C>A)
8g.96160268C>ACA2580079072GDF6c.406+19G>T (n.406+19G>T)
ClinVar gnomAD v4
8g.96160268C>TCA2579211219GDF6c.406+19G>A (n.406+19G>A)
ClinVar dbSNP gnomAD v4
8g.96160269G>ACA2602305960GDF6c.406+18C>T (n.406+18C>T)
dbSNP gnomAD v3 gnomAD v4
8g.96160269G=CA1804283967GDF6c.406+18C= (n.406+18C=)
8g.96160269G>TCA1804283968GDF6c.406+18C>A (n.406+18C>A)
dbSNP gnomAD v4
8g.96160270T>ACA2687993832GDF6c.406+17A>T (n.406+17A>T)
gnomAD v4
8g.96160270T>CCA4815483GDF6c.406+17A>G (n.406+17A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160270T=CA1804283973GDF6c.406+17A= (n.406+17A=)
8g.96160271T>GCA2717946479GDF6c.406+16A>C (n.406+16A>C)
dbSNP
8g.96160272T>GCA583845618GDF6c.406+15A>C (n.406+15A>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96160272T=CA1804283976GDF6c.406+15A= (n.406+15A=)
8g.96160274C=CA1804283978GDF6c.406+13G= (n.406+13G=)
8g.96160274C>GCA4815484GDF6c.406+13G>C (n.406+13G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.96160277delCA2579211220GDF6c.406+12del (n.406+12del)
8g.96160276T>CCA4815485GDF6c.406+11A>G (n.406+11A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160276T=CA1804283981GDF6c.406+11A= (n.406+11A=)
8g.96160278G>CCA1804283985GDF6c.406+9C>G (n.406+9C>G)
dbSNP gnomAD v4
8g.96160278G=CA1804283984GDF6c.406+9C= (n.406+9C=)
8g.96160279C>ACA1116871911GDF6c.406+8G>T (n.406+8G>T)
dbSNP gnomAD v3 gnomAD v4
8g.96160279C=CA1804283987GDF6c.406+8G= (n.406+8G=)
8g.96160279C>TCA1116871912GDF6c.406+8G>A (n.406+8G>A)
dbSNP gnomAD v3 gnomAD v4
8g.96160280C=CA1804283988GDF6c.406+7G= (n.406+7G=)
8g.96160280C>TCA857236051GDF6c.406+7G>A (n.406+7G>A)
dbSNP gnomAD v3 gnomAD v4
8g.96160283T>CCA462454680GDF6c.406+4A>G (n.406+4A>G)
8g.96160285A>CCA371753308GDF6c.406+2T>G (n.406+2T>G)
8g.96160285A>GCA371753307GDF6c.406+2T>C (n.406+2T>C)
8g.96160285A>TCA371753306GDF6c.406+2T>A (n.406+2T>A)
8g.96160286C>ACA371753309GDF6c.406+1G>T (n.406+1G>T)
8g.96160286C>GCA371753310GDF6c.406+1G>C (n.406+1G>C)
8g.96160286C>TCA371753311GDF6c.406+1G>A (n.406+1G>A)
8g.96160287delCA2579211221GDF6c.406+1del
8g.96160287C>ACA371753312GDF6c.406G>T (p.Asp136Tyr)
8g.96160287C>GCA371753313GDF6c.406G>C (p.Asp136His)
8g.96160287C>TCA371753314GDF6c.406G>A (p.Asp136Asn)
8g.96160288T>ACA462454687GDF6c.405A>T (p.Leu135=)
8g.96160288T>CCA462454688GDF6c.405A>G (p.Leu135=)
8g.96160288T>GCA462454689GDF6c.405A>C (p.Leu135=)
8g.96160289A=CA1804283991GDF6c.404T= (p.Leu135=)
8g.96160289A>CCA371753315GDF6c.404T>G (p.Leu135Arg)
8g.96160289A>GCA371753316GDF6c.404T>C (p.Leu135Pro)
8g.96160289A>TCA371753317GDF6c.404T>A (p.Leu135Gln)
dbSNP gnomAD v3 gnomAD v4
8g.96160290G>ACA181488437GDF6c.403C>T (p.Leu135=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96160290G>CCA371753318GDF6c.403C>G (p.Leu135Val)
8g.96160290G=CA1804283994GDF6c.403C= (p.Leu135=)
8g.96160290G>TCA371753319GDF6c.403C>A (p.Leu135Ile)
8g.96160291T>ACA462454701GDF6c.402A>T (p.Gly134=)
8g.96160291T>CCA181488441GDF6c.402A>G (p.Gly134=)
dbSNP
8g.96160291T>GCA462454702GDF6c.402A>C (p.Gly134=)
8g.96160291T=CA1804284000GDF6c.402A= (p.Gly134=)
8g.96160292C>ACA371753321GDF6c.401G>T (p.Gly134Val)
8g.96160292C=CA1804284003GDF6c.401G= (p.Gly134=)
8g.96160292C>GCA371753320GDF6c.401G>C (p.Gly134Ala)
8g.96160292C>TCA181488443GDF6c.401G>A (p.Gly134Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96160293C>ACA371753322GDF6c.400G>T (p.Gly134Ter)
8g.96160293C>GCA371753323GDF6c.400G>C (p.Gly134Arg)
8g.96160293C>TCA371753324GDF6c.400G>A (p.Gly134Arg)
8g.96160294C>ACA371753325GDF6c.399G>T (p.Arg133Ser)
8g.96160294C=CA1804284004GDF6c.399G= (p.Arg133=)
8g.96160294C>GCA371753326GDF6c.399G>C (p.Arg133Ser)
dbSNP gnomAD v4
8g.96160294C>TCA4815486GDF6c.399G>A (p.Arg133=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160295C>ACA371753327GDF6c.398G>T (p.Arg133Met)
8g.96160295C>GCA371753328GDF6c.398G>C (p.Arg133Thr)
8g.96160295C>TCA371753329GDF6c.398G>A (p.Arg133Lys)
ClinVar dbSNP
8g.96160296T>ACA371753330GDF6c.397A>T (p.Arg133Trp)
8g.96160296T>CCA371753331GDF6c.397A>G (p.Arg133Gly)
8g.96160296T>GCA462454715GDF6c.397A>C (p.Arg133=)
8g.96160297G>ACA462454719GDF6c.396C>T (p.Asp132=)
8g.96160297G>CCA371753332GDF6c.396C>G (p.Asp132Glu)
dbSNP gnomAD v2 gnomAD v4
8g.96160297G=CA1804284010GDF6c.396C= (p.Asp132=)
8g.96160297G>TCA371753333GDF6c.396C>A (p.Asp132Glu)
gnomAD v4
8g.96160298T>ACA371753335GDF6c.395A>T (p.Asp132Val)
8g.96160298T>CCA371753336GDF6c.395A>G (p.Asp132Gly)
8g.96160298T>GCA371753334GDF6c.395A>C (p.Asp132Ala)
8g.96160299C>ACA371753339GDF6c.394G>T (p.Asp132Tyr)
8g.96160299C>GCA371753337GDF6c.394G>C (p.Asp132His)
gnomAD v4
8g.96160299C>TCA371753338GDF6c.394G>A (p.Asp132Asn)
8g.96160300T>ACA462454731GDF6c.393A>T (p.Val131=)
8g.96160300T>CCA462454728GDF6c.393A>G (p.Val131=)
ClinVar dbSNP
8g.96160300T>GCA462454730GDF6c.393A>C (p.Val131=)
8g.96160301A>CCA371753340GDF6c.392T>G (p.Val131Gly)
8g.96160301A>GCA371753341GDF6c.392T>C (p.Val131Ala)
8g.96160301A>TCA371753342GDF6c.392T>A (p.Val131Glu)
8g.96160302C>ACA371753343GDF6c.391G>T (p.Val131Leu)
8g.96160302C>GCA371753344GDF6c.391G>C (p.Val131Leu)
8g.96160302C>TCA371753345GDF6c.391G>A (p.Val131Ile)
8g.96160303A>CCA371753346GDF6c.390T>G (p.Phe130Leu)
8g.96160303A>GCA462454734GDF6c.390T>C (p.Phe130=)
8g.96160303A>TCA371753347GDF6c.390T>A (p.Phe130Leu)
8g.96160304A>CCA371753348GDF6c.389T>G (p.Phe130Cys)
8g.96160304A>GCA371753349GDF6c.389T>C (p.Phe130Ser)
8g.96160304A>TCA371753350GDF6c.389T>A (p.Phe130Tyr)
8g.96160305A>CCA371753352GDF6c.388T>G (p.Phe130Val)
8g.96160305A>GCA371753353GDF6c.388T>C (p.Phe130Leu)
8g.96160305A>TCA371753351GDF6c.388T>A (p.Phe130Ile)
8g.96160306G>ACA462454740GDF6c.387C>T (p.Ser129=)
ClinVar dbSNP
8g.96160306G>CCA371753354GDF6c.387C>G (p.Ser129Arg)
8g.96160306G>TCA371753355GDF6c.387C>A (p.Ser129Arg)
8g.96160307C>ACA371753356GDF6c.386G>T (p.Ser129Ile)
8g.96160307C>GCA371753357GDF6c.386G>C (p.Ser129Thr)
8g.96160307C>TCA371753358GDF6c.386G>A (p.Ser129Asn)
gnomAD v4
8g.96160308T>ACA371753361GDF6c.385A>T (p.Ser129Cys)
8g.96160308T>CCA371753359GDF6c.385A>G (p.Ser129Gly)
dbSNP
8g.96160308T>GCA371753360GDF6c.385A>C (p.Ser129Arg)
8g.96160308T=CA1804284015GDF6c.385A= (p.Ser129=)
8g.96160309G>ACA462454748GDF6c.384C>T (p.Thr128=)
8g.96160309G>CCA462454749GDF6c.384C>G (p.Thr128=)
8g.96160309G>TCA462454751GDF6c.384C>A (p.Thr128=)
8g.96160310G>ACA4815487GDF6c.383C>T (p.Thr128Ile)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.96160310G>CCA371753362GDF6c.383C>G (p.Thr128Ser)
dbSNP gnomAD v3 gnomAD v4
8g.96160310G=CA1804284020GDF6c.383C= (p.Thr128=)
8g.96160310G>TCA371753363GDF6c.383C>A (p.Thr128Asn)
8g.96160311T>ACA371753364GDF6c.382A>T (p.Thr128Ser)
8g.96160311T>CCA371753365GDF6c.382A>G (p.Thr128Ala)
gnomAD v4
8g.96160311T>GCA371753366GDF6c.382A>C (p.Thr128Pro)
8g.96160312G>ACA462454772GDF6c.381C>T (p.Ile127=)
dbSNP
8g.96160312G>CCA371753367GDF6c.381C>G (p.Ile127Met)
8g.96160312G=CA1804284025GDF6c.381C= (p.Ile127=)
8g.96160312G>TCA462454774GDF6c.381C>A (p.Ile127=)
8g.96160313A>CCA371753369GDF6c.380T>G (p.Ile127Ser)
8g.96160313A>GCA371753368GDF6c.380T>C (p.Ile127Thr)
8g.96160313A>TCA371753370GDF6c.380T>A (p.Ile127Asn)
8g.96160314T>ACA371753371GDF6c.379A>T (p.Ile127Phe)
8g.96160314T>CCA371753372GDF6c.379A>G (p.Ile127Val)
dbSNP gnomAD v4
8g.96160314T>GCA371753373GDF6c.379A>C (p.Ile127Leu)
8g.96160314T=CA1804284030GDF6c.379A= (p.Ile127=)
8g.96160315C>ACA462454780GDF6c.378G>T (p.Thr126=)
ClinVar dbSNP
8g.96160315C=CA1804284033GDF6c.378G= (p.Thr126=)
8g.96160315C>GCA462454781GDF6c.378G>C (p.Thr126=)
8g.96160315C>TCA462454783GDF6c.378G>A (p.Thr126=)
dbSNP gnomAD v3 gnomAD v4
8g.96160316G>ACA4815488GDF6c.377C>T (p.Thr126Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.96160316G>CCA371753374GDF6c.377C>G (p.Thr126Arg)
gnomAD v4
8g.96160316G=CA1804284040GDF6c.377C= (p.Thr126=)
8g.96160316G>TCA181488451GDF6c.377C>A (p.Thr126Lys)
dbSNP gnomAD v4
8g.96160317T>ACA371753375GDF6c.376A>T (p.Thr126Ser)
8g.96160317T>CCA371753376GDF6c.376A>G (p.Thr126Ala)
8g.96160317T>GCA371753377GDF6c.376A>C (p.Thr126Pro)
8g.96160317dupCA4815489GDF6c.376dup (p.Thr126AsnfsTer26)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.96160318A>CCA371753378GDF6c.375T>G (p.Asn125Lys)
8g.96160318A>GCA462454792GDF6c.375T>C (p.Asn125=)
8g.96160318A>TCA371753379GDF6c.375T>A (p.Asn125Lys)
8g.96160319T>ACA371753382GDF6c.374A>T (p.Asn125Ile)
8g.96160319T>CCA371753381GDF6c.374A>G (p.Asn125Ser)
gnomAD v4
8g.96160319T>GCA371753380GDF6c.374A>C (p.Asn125Thr)
8g.96160320T>ACA371753383GDF6c.373A>T (p.Asn125Tyr)
8g.96160320T>CCA371753384GDF6c.373A>G (p.Asn125Asp)
8g.96160320T>GCA371753385GDF6c.373A>C (p.Asn125His)
8g.96160321A>CCA462454801GDF6c.372T>G (p.Ala124=)
8g.96160321A>GCA462454797GDF6c.372T>C (p.Ala124=)
gnomAD v4
8g.96160321A>TCA462454800GDF6c.372T>A (p.Ala124=)
8g.96160322G>ACA371753386GDF6c.371C>T (p.Ala124Val)
8g.96160322G>CCA371753387GDF6c.371C>G (p.Ala124Gly)
8g.96160322G>TCA371753388GDF6c.371C>A (p.Ala124Asp)
8g.96160323C>ACA371753389GDF6c.370G>T (p.Ala124Ser)
gnomAD v4
8g.96160323C>GCA371753390GDF6c.370G>C (p.Ala124Pro)
8g.96160323C>TCA371753391GDF6c.370G>A (p.Ala124Thr)
8g.96160324C>ACA462454817GDF6c.369G>T (p.Ser123=)
8g.96160324C>GCA462454819GDF6c.369G>C (p.Ser123=)
8g.96160324C>TCA462454821GDF6c.369G>A (p.Ser123=)
8g.96160325G>ACA4815490GDF6c.368C>T (p.Ser123Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.96160325G>CCA371753392GDF6c.368C>G (p.Ser123Trp)
8g.96160325G=CA1804284044GDF6c.368C= (p.Ser123=)
8g.96160325G>TCA371753393GDF6c.368C>A (p.Ser123Ter)
8g.96160326A>CCA371753394GDF6c.367T>G (p.Ser123Ala)
8g.96160326A>GCA371753396GDF6c.367T>C (p.Ser123Pro)
8g.96160326A>TCA371753395GDF6c.367T>A (p.Ser123Thr)
8g.96160327C>ACA371753397GDF6c.366G>T (p.Lys122Asn)
8g.96160327C>GCA371753398GDF6c.366G>C (p.Lys122Asn)
8g.96160327C>TCA462454831GDF6c.366G>A (p.Lys122=)
ClinVar
8g.96160328T>ACA371753399GDF6c.365A>T (p.Lys122Met)
8g.96160328T>CCA371753400GDF6c.365A>G (p.Lys122Arg)
8g.96160328T>GCA371753401GDF6c.365A>C (p.Lys122Thr)
ClinVar dbSNP
8g.96160329T>ACA371753403GDF6c.364A>T (p.Lys122Ter)
8g.96160329T>CCA371753402GDF6c.364A>G (p.Lys122Glu)
gnomAD v4
8g.96160329T>GCA4815491GDF6c.364A>C (p.Lys122Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160329T=CA1804284049GDF6c.364A= (p.Lys122=)
8g.96160330G>ACA462454841GDF6c.363C>T (p.Ser121=)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96160330G>CCA462454842GDF6c.363C>G (p.Ser121=)
8g.96160330G=CA1804284054GDF6c.363C= (p.Ser121=)
8g.96160330G>TCA462454843GDF6c.363C>A (p.Ser121=)
8g.96160331G>ACA4815492GDF6c.362C>T (p.Ser121Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96160331G>CCA371753404GDF6c.362C>G (p.Ser121Cys)
8g.96160331G=CA1804284059GDF6c.362C= (p.Ser121=)
8g.96160331G>TCA371753405GDF6c.362C>A (p.Ser121Tyr)
8g.96160332A>CCA371753406GDF6c.361T>G (p.Ser121Ala)
8g.96160332A>GCA371753407GDF6c.361T>C (p.Ser121Pro)
8g.96160332A>TCA371753408GDF6c.361T>A (p.Ser121Thr)
8g.96160333A>CCA462454849GDF6c.360T>G (p.Ser120=)
8g.96160333A>GCA462454851GDF6c.360T>C (p.Ser120=)
8g.96160333A>TCA462454850GDF6c.360T>A (p.Ser120=)

Number of alleles fetched