Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25161574_25161635delCA2658163201POMCc.250_311del (p.Trp84ArgfsTer14)
gnomAD v4
2g.25161602_25161619dupCA531760865POMCc.268_285dup (p.Ser95_Gly96insArgAsnSerSerSerSer)
dbSNP gnomAD v2 gnomAD v4
2g.25161605_25161619delCA2658163210POMCc.268_282del (p.Arg90_Ser94del)
gnomAD v4
2g.25161618G>ACA425179857POMCc.267C>T (p.Arg89=)
2g.25161618G>CCA425179859POMCc.267C>G (p.Arg89=)
2g.25161618G>TCA425179861POMCc.267C>A (p.Arg89=)
gnomAD v4
2g.25161619C>ACA346067419POMCc.266G>T (p.Arg89Leu)
2g.25161619C=CA1239228195POMCc.266G= (p.Arg89=)
2g.25161619C>GCA346067420POMCc.266G>C (p.Arg89Pro)
dbSNP gnomAD v2 gnomAD v4
2g.25161619C>TCA346067421POMCc.266G>A (p.Arg89His)
gnomAD v4 COSMIC
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTCA2658163227POMCc.265_266insAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer36)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTCA1028505498POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer37)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA2658163226POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer39)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA2658163225POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer40)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA2658163222POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer42)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA2658163224POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer43)
gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505497POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer45)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA1028505493POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer46)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505499POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer48)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA1028505495POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer49)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTCA1028505492POMCc.265_266insAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer57)
gnomAD v3 gnomAD v4
2g.25161619_25161620insTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA2658163223POMCc.265_266insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCA (p.Arg89GlnfsTer58)
gnomAD v4
2g.25161620G>ACA346067425POMCc.265C>T (p.Arg89Cys)
gnomAD v4 COSMIC
2g.25161620G>CCA346067424POMCc.265C>G (p.Arg89Gly)
2g.25161620G=CA1239228200POMCc.265C= (p.Arg89=)
2g.25161620G>TCA346067423POMCc.265C>A (p.Arg89Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161621dupCA346067422POMCc.265dup (p.Arg89ProfsTer30)
dbSNP
2g.25161621G>ACA425179874POMCc.264C>T (p.Gly88=)
dbSNP gnomAD v4
2g.25161621G>CCA425179871POMCc.264C>G (p.Gly88=)
gnomAD v4
2g.25161621G=CA1239228204POMCc.264C= (p.Gly88=)
2g.25161621G>TCA425179873POMCc.264C>A (p.Gly88=)
gnomAD v4
2g.25161622C>ACA346067426POMCc.263G>T (p.Gly88Val)
2g.25161622C=CA1239228208POMCc.263G= (p.Gly88=)
2g.25161622C>GCA346067427POMCc.263G>C (p.Gly88Ala)
dbSNP
2g.25161622C>TCA346067428POMCc.263G>A (p.Gly88Asp)
2g.25161622_25161623insTGCA531358440POMCc.262_263insCA (p.Gly88AlafsTer?)
dbSNP gnomAD v2
2g.25161622_25161623insTGCCGCTGCTGCCGCA2658163228POMCc.262_263insCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCA2658163229POMCc.262_263insCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCA2658163230POMCc.262_263insCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCA2658163231POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505510POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA1028505513POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCA2658163232POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505515POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA1028505518POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCA1028505521POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA2749203942POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA2749203943POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505523POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCA1028505531POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505532POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCA1028505536POMCc.262_263insCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA1028505537POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA1028505538POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA531358441POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v2 gnomAD v3 gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA2658163233POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCA2658163234POMCc.262_263insCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161622_25161623insTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCA2658163235POMCc.262_263insCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCA (p.Gly88AlafsTer?)
gnomAD v4
2g.25161623C>ACA346067429POMCc.262G>T (p.Gly88Cys)
2g.25161623C=CA1239228216POMCc.262G= (p.Gly88=)
2g.25161623C>GCA346067430POMCc.262G>C (p.Gly88Arg)
dbSNP gnomAD v2 gnomAD v4
2g.25161623C>TCA346067431POMCc.262G>A (p.Gly88Ser)
dbSNP
2g.25161624G>ACA425179883POMCc.261C>T (p.Phe87=)
dbSNP gnomAD v3 gnomAD v4
2g.25161624G>CCA346067432POMCc.261C>G (p.Phe87Leu)
2g.25161624G=CA1239228224POMCc.261C= (p.Phe87=)
2g.25161624G>TCA1555345POMCc.261C>A (p.Phe87Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161624_25161625delinsGACA1239228227POMCc.260_261delinsTC (p.Phe87=)
2g.25161625A>CCA346067434POMCc.260T>G (p.Phe87Cys)
gnomAD v4
2g.25161625A>GCA346067435POMCc.260T>C (p.Phe87Ser)
2g.25161625A>TCA346067433POMCc.260T>A (p.Phe87Tyr)
2g.25161626delCA767173724POMCc.260del (p.Phe87SerfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25161626A>CCA346067436POMCc.259T>G (p.Phe87Val)
2g.25161626A>GCA346067437POMCc.259T>C (p.Phe87Leu)
gnomAD v4
2g.25161626A>TCA346067438POMCc.259T>A (p.Phe87Ile)
2g.25161627T>ACA425179892POMCc.258A>T (p.Arg86=)
2g.25161627T>CCA425179893POMCc.258A>G (p.Arg86=)
2g.25161627T>GCA425179895POMCc.258A>C (p.Arg86=)
2g.25161628C>ACA346067439POMCc.257G>T (p.Arg86Leu)
gnomAD v4
2g.25161628C=CA1239228235POMCc.257G= (p.Arg86=)
2g.25161628C>GCA346067440POMCc.257G>C (p.Arg86Pro)
gnomAD v4
2g.25161628C>TCA346067441POMCc.257G>A (p.Arg86Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161629G>ACA346067442POMCc.256C>T (p.Arg86Ter)
dbSNP gnomAD v4
2g.25161629G>CCA346067443POMCc.256C>G (p.Arg86Gly)
dbSNP gnomAD v2 gnomAD v4
2g.25161629G=CA1239228240POMCc.256C= (p.Arg86=)
2g.25161629G>TCA425179901POMCc.256C>A (p.Arg86=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161630G>ACA425179904POMCc.255C>T (p.Asp85=)
dbSNP gnomAD v4
2g.25161630G>CCA1555346POMCc.255C>G (p.Asp85Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161630G=CA1239228242POMCc.255C= (p.Asp85=)
2g.25161630G>TCA346067444POMCc.255C>A (p.Asp85Glu)
2g.25161631T>ACA346067445POMCc.254A>T (p.Asp85Val)
2g.25161631T>CCA346067446POMCc.254A>G (p.Asp85Gly)
dbSNP gnomAD v4
2g.25161631T>GCA346067447POMCc.254A>C (p.Asp85Ala)
2g.25161631T=CA1239228244POMCc.254A= (p.Asp85=)
2g.25161632C>ACA346067450POMCc.253G>T (p.Asp85Tyr)
gnomAD v4
2g.25161632C>GCA346067449POMCc.253G>C (p.Asp85His)
2g.25161632C>TCA346067448POMCc.253G>A (p.Asp85Asn)
2g.25161633C>ACA346067451POMCc.252G>T (p.Trp84Cys)
2g.25161633C=CA1239228249POMCc.252G= (p.Trp84=)
2g.25161633C>GCA346067452POMCc.252G>C (p.Trp84Cys)
gnomAD v4
2g.25161633C>TCA346067453POMCc.252G>A (p.Trp84Ter)
dbSNP gnomAD v2 gnomAD v4
2g.25161634C>ACA346067454POMCc.251G>T (p.Trp84Leu)
2g.25161634C=CA1239228257POMCc.251G= (p.Trp84=)
2g.25161634C>GCA346067455POMCc.251G>C (p.Trp84Ser)
2g.25161634C>TCA1555347POMCc.251G>A (p.Trp84Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161635A=CA1239228270POMCc.250T= (p.Trp84=)
2g.25161635A>CCA346067456POMCc.250T>G (p.Trp84Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161635A>GCA1555348POMCc.250T>C (p.Trp84Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161635A>TCA346067457POMCc.250T>A (p.Trp84Arg)
2g.25161636G>ACA425179920POMCc.249C>T (p.Arg83=)
gnomAD v4
2g.25161636G>CCA425179922POMCc.249C>G (p.Arg83=)
2g.25161636G>TCA425179923POMCc.249C>A (p.Arg83=)
2g.25161637C>ACA346067458POMCc.248G>T (p.Arg83Leu)
gnomAD v4
2g.25161637C=CA1239228284POMCc.248G= (p.Arg83=)
2g.25161637C>GCA346067459POMCc.248G>C (p.Arg83Pro)
2g.25161637C>TCA43684950POMCc.248G>A (p.Arg83His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161638G>ACA346067462POMCc.247C>T (p.Arg83Cys)
2g.25161638G>CCA346067461POMCc.247C>G (p.Arg83Gly)
2g.25161638G>TCA346067460POMCc.247C>A (p.Arg83Ser)
2g.25161639G>ACA425179931POMCc.246C>T (p.Phe82=)
dbSNP gnomAD v4
2g.25161639G>CCA346067463POMCc.246C>G (p.Phe82Leu)
2g.25161639G>TCA346067464POMCc.246C>A (p.Phe82Leu)
gnomAD v4
2g.25161640A>CCA346067465POMCc.245T>G (p.Phe82Cys)
2g.25161640A>GCA346067466POMCc.245T>C (p.Phe82Ser)
gnomAD v4
2g.25161640A>TCA346067467POMCc.245T>A (p.Phe82Tyr)
2g.25161641A=CA1239228290POMCc.244T= (p.Phe82=)
2g.25161641A>CCA1555349POMCc.244T>G (p.Phe82Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161641A>GCA346067468POMCc.244T>C (p.Phe82Leu)
2g.25161641A>TCA346067469POMCc.244T>A (p.Phe82Ile)
2g.25161642G>ACA1555350POMCc.243C>T (p.His81=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161642G>CCA346067470POMCc.243C>G (p.His81Gln)
2g.25161642G=CA1239228303POMCc.243C= (p.His81=)
2g.25161642G>TCA346067471POMCc.243C>A (p.His81Gln)
2g.25161643T>ACA346067472POMCc.242A>T (p.His81Leu)
gnomAD v4
2g.25161643T>CCA346067473POMCc.242A>G (p.His81Arg)
dbSNP gnomAD v2 gnomAD v4
2g.25161643T>GCA346067474POMCc.242A>C (p.His81Pro)
2g.25161643T=CA1239228307POMCc.242A= (p.His81=)
2g.25161644G>ACA346067477POMCc.241C>T (p.His81Tyr)
gnomAD v4
2g.25161644G>CCA346067475POMCc.241C>G (p.His81Asp)
2g.25161644G>TCA346067476POMCc.241C>A (p.His81Asn)
2g.25161645G>ACA425179951POMCc.240C>T (p.Gly80=)
dbSNP gnomAD v2 gnomAD v4
2g.25161645G>CCA425179952POMCc.240C>G (p.Gly80=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161645G=CA1239228312POMCc.240C= (p.Gly80=)
2g.25161645G>TCA425179954POMCc.240C>A (p.Gly80=)
2g.25161646C>ACA346067478POMCc.239G>T (p.Gly80Val)
gnomAD v4
2g.25161646C>GCA346067479POMCc.239G>C (p.Gly80Ala)
2g.25161646C>TCA346067480POMCc.239G>A (p.Gly80Asp)
gnomAD v4
2g.25161647C>ACA346067481POMCc.238G>T (p.Gly80Cys)
gnomAD v4
2g.25161647C=CA1239228319POMCc.238G= (p.Gly80=)
2g.25161647C>GCA346067482POMCc.238G>C (p.Gly80Arg)
2g.25161647C>TCA346067483POMCc.238G>A (p.Gly80Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25161648C>ACA346067484POMCc.237G>T (p.Met79Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161648C=CA1239228323POMCc.237G= (p.Met79=)
2g.25161648C>GCA346067485POMCc.237G>C (p.Met79Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161648C>TCA346067486POMCc.237G>A (p.Met79Ile)
gnomAD v4
2g.25161649A>CCA346067487POMCc.236T>G (p.Met79Arg)
2g.25161649A>GCA346067488POMCc.236T>C (p.Met79Thr)
2g.25161649A>TCA346067489POMCc.236T>A (p.Met79Lys)
2g.25161649_25161662delCA2576693518POMCc.223_236del (p.Arg75GlyfsTer?)
2g.25161650T>ACA346067492POMCc.235A>T (p.Met79Leu)
2g.25161650T>CCA346067491POMCc.235A>G (p.Met79Val)
2g.25161650T>GCA346067490POMCc.235A>C (p.Met79Leu)
2g.25161651G>ACA425179972POMCc.234C>T (p.Val78=)
2g.25161651G>CCA425179973POMCc.234C>G (p.Val78=)
2g.25161651G=CA1239228327POMCc.234C= (p.Val78=)
2g.25161651G>TCA425179975POMCc.234C>A (p.Val78=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161652A>CCA346067495POMCc.233T>G (p.Val78Gly)
gnomAD v4
2g.25161652A>GCA346067493POMCc.233T>C (p.Val78Ala)
2g.25161652A>TCA346067494POMCc.233T>A (p.Val78Asp)
2g.25161653C>ACA346067496POMCc.232G>T (p.Val78Phe)
gnomAD v4
2g.25161653C>GCA346067497POMCc.232G>C (p.Val78Leu)
2g.25161653C>TCA346067498POMCc.232G>A (p.Val78Ile)
gnomAD v4
2g.25161654G>ACA1555351POMCc.231C>T (p.Tyr77=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161654G>CCA346067499POMCc.231C>G (p.Tyr77Ter)
2g.25161654G=CA1239228329POMCc.231C= (p.Tyr77=)
2g.25161654G>TCA346067500POMCc.231C>A (p.Tyr77Ter)
gnomAD v4
2g.25161655T>ACA346067501POMCc.230A>T (p.Tyr77Phe)
2g.25161655T>CCA346067502POMCc.230A>G (p.Tyr77Cys)
gnomAD v4
2g.25161655T>GCA346067503POMCc.230A>C (p.Tyr77Ser)
2g.25161656A>CCA346067504POMCc.229T>G (p.Tyr77Asp)
gnomAD v4
2g.25161656A>GCA346067505POMCc.229T>C (p.Tyr77His)
2g.25161656A>TCA346067506POMCc.229T>A (p.Tyr77Asn)
2g.25161657C>ACA346067507POMCc.228G>T (p.Lys76Asn)
2g.25161657C=CA1239228333POMCc.228G= (p.Lys76=)
2g.25161657C>GCA346067508POMCc.228G>C (p.Lys76Asn)
2g.25161657C>TCA425179991POMCc.228G>A (p.Lys76=)
dbSNP gnomAD v2 gnomAD v4
2g.25161658T>ACA346067509POMCc.227A>T (p.Lys76Met)
2g.25161658T>CCA346067510POMCc.227A>G (p.Lys76Arg)
2g.25161658T>GCA346067511POMCc.227A>C (p.Lys76Thr)
2g.25161659T>ACA346067512POMCc.226A>T (p.Lys76Ter)
2g.25161659T>CCA346067513POMCc.226A>G (p.Lys76Glu)
2g.25161659T>GCA43684965POMCc.226A>C (p.Lys76Gln)
dbSNP gnomAD v4
2g.25161659T=CA1239228334POMCc.226A= (p.Lys76=)
2g.25161659_25161660delinsTCCA1239228335POMCc.225_226delinsGA (p.Arg75=)
2g.25161660C>ACA425180001POMCc.225G>T (p.Arg75=)
2g.25161660C=CA1239228339POMCc.225G= (p.Arg75=)
2g.25161660C>GCA425180002POMCc.225G>C (p.Arg75=)
2g.25161660C>TCA1555352POMCc.225G>A (p.Arg75=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.25161661delCA913189932POMCc.225del (p.Lys76SerfsTer?)
ClinVar dbSNP
2g.25161661C>ACA346067514POMCc.224G>T (p.Arg75Leu)
2g.25161661C>GCA346067515POMCc.224G>C (p.Arg75Pro)
2g.25161661C>TCA346067516POMCc.224G>A (p.Arg75Gln)
gnomAD v4
2g.25161662G>ACA346067517POMCc.223C>T (p.Arg75Trp)
2g.25161662G>CCA346067518POMCc.223C>G (p.Arg75Gly)
gnomAD v4
2g.25161662G>TCA425180009POMCc.223C>A (p.Arg75=)
gnomAD v4
2g.25161666dupCA2586968733POMCc.223dup (p.Arg75ProfsTer?)
2g.25161663G>ACA425180013POMCc.222C>T (p.Pro74=)
gnomAD v4
2g.25161663G>CCA425180012POMCc.222C>G (p.Pro74=)
2g.25161663G>TCA425180015POMCc.222C>A (p.Pro74=)
gnomAD v4
2g.25161663_25161678delinsGGGGTTCTCGGTCAGACA1239228340POMCc.207_222delinsTCTGACCGAGAACCCC (p.Pro69=)
2g.25161664G>ACA346067520POMCc.221C>T (p.Pro74Leu)
gnomAD v4
2g.25161664G>CCA346067521POMCc.221C>G (p.Pro74Arg)
2g.25161664G=CA1239228342POMCc.221C= (p.Pro74=)
2g.25161664G>TCA346067519POMCc.221C>A (p.Pro74His)
ClinVar dbSNP gnomAD v4
2g.25161666_25161680delCA767173809POMCc.207_221del (p.Leu70_Pro74del)
dbSNP gnomAD v3 gnomAD v4
2g.25161665G>ACA346067522POMCc.220C>T (p.Pro74Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25161665G>CCA346067524POMCc.220C>G (p.Pro74Ala)
2g.25161665G=CA1239228344POMCc.220C= (p.Pro74=)
2g.25161665G>TCA346067523POMCc.220C>A (p.Pro74Thr)
dbSNP gnomAD v2 gnomAD v4
2g.25161666G>ACA425180023POMCc.219C>T (p.Asn73=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161666G>CCA346067525POMCc.219C>G (p.Asn73Lys)
2g.25161666G=CA1239228345POMCc.219C= (p.Asn73=)
2g.25161666G>TCA346067526POMCc.219C>A (p.Asn73Lys)
dbSNP gnomAD v3 gnomAD v4
2g.25161667T>ACA346067527POMCc.218A>T (p.Asn73Ile)
2g.25161667T>CCA346067528POMCc.218A>G (p.Asn73Ser)
2g.25161667T>GCA346067529POMCc.218A>C (p.Asn73Thr)
dbSNP
2g.25161668T>ACA346067530POMCc.217A>T (p.Asn73Tyr)
2g.25161668T>CCA346067531POMCc.217A>G (p.Asn73Asp)
gnomAD v4
2g.25161668T>GCA346067532POMCc.217A>C (p.Asn73His)
2g.25161669C>ACA43684979POMCc.216G>T (p.Glu72Asp)
dbSNP gnomAD v4
2g.25161669C=CA1239228348POMCc.216G= (p.Glu72=)
2g.25161669C>GCA346067533POMCc.216G>C (p.Glu72Asp)
2g.25161669C>TCA43684975POMCc.216G>A (p.Glu72=)
dbSNP gnomAD v2
2g.25161670T>ACA346067536POMCc.215A>T (p.Glu72Val)
2g.25161670T>CCA346067535POMCc.215A>G (p.Glu72Gly)
2g.25161670T>GCA346067534POMCc.215A>C (p.Glu72Ala)
2g.25161671C>ACA346067537POMCc.214G>T (p.Glu72Ter)
2g.25161671C>GCA346067538POMCc.214G>C (p.Glu72Gln)
2g.25161671C>TCA346067539POMCc.214G>A (p.Glu72Lys)
gnomAD v4
2g.25161672G>ACA1555353POMCc.213C>T (p.Thr71=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161672G>CCA1555354POMCc.213C>G (p.Thr71=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161672G=CA1239228355POMCc.213C= (p.Thr71=)
2g.25161672G>TCA425180041POMCc.213C>A (p.Thr71=)
dbSNP gnomAD v4
2g.25161673G>ACA346067540POMCc.212C>T (p.Thr71Ile)
2g.25161673G>CCA346067541POMCc.212C>G (p.Thr71Ser)
gnomAD v4
2g.25161673G>TCA346067542POMCc.212C>A (p.Thr71Asn)
2g.25161674delCA2658163236POMCc.211del (p.Thr71ProfsTer?)
gnomAD v4
2g.25161674T>ACA346067543POMCc.211A>T (p.Thr71Ser)
2g.25161674T>CCA346067544POMCc.211A>G (p.Thr71Ala)
2g.25161674T>GCA346067545POMCc.211A>C (p.Thr71Pro)
2g.25161675C>ACA425180050POMCc.210G>T (p.Leu70=)
gnomAD v4
2g.25161675C>GCA425180051POMCc.210G>C (p.Leu70=)
2g.25161675C>TCA425180053POMCc.210G>A (p.Leu70=)
gnomAD v4
2g.25161676A=CA1239228360POMCc.209T= (p.Leu70=)
2g.25161676A>CCA346067547POMCc.209T>G (p.Leu70Arg)
gnomAD v4
2g.25161676A>GCA346067548POMCc.209T>C (p.Leu70Pro)
dbSNP gnomAD v2 gnomAD v4
2g.25161676A>TCA346067546POMCc.209T>A (p.Leu70Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161677G>ACA425180059POMCc.208C>T (p.Leu70=)
2g.25161677G>CCA346067549POMCc.208C>G (p.Leu70Val)
2g.25161677G>TCA346067550POMCc.208C>A (p.Leu70Met)
gnomAD v4
2g.25161678A>CCA425180063POMCc.207T>G (p.Pro69=)
gnomAD v4
2g.25161678A>GCA425180064POMCc.207T>C (p.Pro69=)
gnomAD v4
2g.25161678A>TCA425180066POMCc.207T>A (p.Pro69=)
2g.25161678_25161691delCA2658163237POMCc.194_207del (p.Gly65AlafsTer?)
gnomAD v4
2g.25161679G>ACA1555355POMCc.206C>T (p.Pro69Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161679G>CCA346067551POMCc.206C>G (p.Pro69Arg)
COSMIC
2g.25161679G=CA1239228363POMCc.206C= (p.Pro69=)
2g.25161679G>TCA346067552POMCc.206C>A (p.Pro69His)
gnomAD v4
2g.25161680delCA2586968734POMCc.206del (p.Pro69LeufsTer2)
2g.25161680G>ACA346067553POMCc.205C>T (p.Pro69Ser)
2g.25161680G>CCA346067554POMCc.205C>G (p.Pro69Ala)
dbSNP gnomAD v3 gnomAD v4
2g.25161680G=CA1239228366POMCc.205C= (p.Pro69=)
2g.25161680G>TCA346067555POMCc.205C>A (p.Pro69Thr)
gnomAD v4
2g.25161681C>ACA346067556POMCc.204G>T (p.Gln68His)
gnomAD v4
2g.25161681C>GCA346067557POMCc.204G>C (p.Gln68His)
gnomAD v4
2g.25161681C>TCA425180075POMCc.204G>A (p.Gln68=)
2g.25161682T>ACA346067558POMCc.203A>T (p.Gln68Leu)
2g.25161682T>CCA346067559POMCc.203A>G (p.Gln68Arg)
2g.25161682T>GCA346067560POMCc.203A>C (p.Gln68Pro)
gnomAD v4
2g.25161683G>ACA346067563POMCc.202C>T (p.Gln68Ter)
gnomAD v4
2g.25161683G>CCA346067562POMCc.202C>G (p.Gln68Glu)
2g.25161683G=CA1239228370POMCc.202C= (p.Gln68=)
2g.25161683G>TCA346067561POMCc.202C>A (p.Gln68Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161684C>ACA346067564POMCc.201G>T (p.Glu67Asp)
2g.25161684C=CA1239228374POMCc.201G= (p.Glu67=)
2g.25161684C>GCA1555356POMCc.201G>C (p.Glu67Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161684C>TCA425180079POMCc.201G>A (p.Glu67=)
dbSNP gnomAD v4
2g.25161685T>ACA346067565POMCc.200A>T (p.Glu67Val)
2g.25161685T>CCA346067566POMCc.200A>G (p.Glu67Gly)
gnomAD v4
2g.25161685T>GCA346067567POMCc.200A>C (p.Glu67Ala)
2g.25161686C>ACA346067568POMCc.199G>T (p.Glu67Ter)
dbSNP gnomAD v2 gnomAD v4
2g.25161686C=CA1239228378POMCc.199G= (p.Glu67=)
2g.25161686C>GCA346067569POMCc.199G>C (p.Glu67Gln)
dbSNP gnomAD v2 gnomAD v4
2g.25161686C>TCA346067570POMCc.199G>A (p.Glu67Lys)
dbSNP gnomAD v3 gnomAD v4
2g.25161687G>ACA425180087POMCc.198C>T (p.Asp66=)
gnomAD v4
2g.25161687G>CCA1555357POMCc.198C>G (p.Asp66Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161687G=CA1239228383POMCc.198C= (p.Asp66=)
2g.25161687G>TCA346067571POMCc.198C>A (p.Asp66Glu)
2g.25161688T>ACA346067572POMCc.197A>T (p.Asp66Val)
2g.25161688T>CCA346067573POMCc.197A>G (p.Asp66Gly)
2g.25161688T>GCA346067574POMCc.197A>C (p.Asp66Ala)
2g.25161689C>ACA346067576POMCc.196G>T (p.Asp66Tyr)
2g.25161689C=CA1239228387POMCc.196G= (p.Asp66=)
2g.25161689C>GCA346067577POMCc.196G>C (p.Asp66His)
2g.25161689C>TCA346067575POMCc.196G>A (p.Asp66Asn)
dbSNP gnomAD v2 gnomAD v4
2g.25161690G>ACA425180094POMCc.195C>T (p.Gly65=)
dbSNP gnomAD v4 COSMIC
2g.25161690G>CCA425180096POMCc.195C>G (p.Gly65=)
2g.25161690G=CA1239228391POMCc.195C= (p.Gly65=)
2g.25161690G>TCA425180097POMCc.195C>A (p.Gly65=)
gnomAD v4
2g.25161691C>ACA346067580POMCc.194G>T (p.Gly65Val)
gnomAD v4
2g.25161691C>GCA346067578POMCc.194G>C (p.Gly65Ala)
2g.25161691C>TCA346067579POMCc.194G>A (p.Gly65Asp)
gnomAD v4
2g.25161692C>ACA346067581POMCc.193G>T (p.Gly65Cys)
gnomAD v4
2g.25161692C>GCA346067582POMCc.193G>C (p.Gly65Arg)
2g.25161692C>TCA346067583POMCc.193G>A (p.Gly65Ser)
gnomAD v4
2g.25161693A>CCA346067584POMCc.192T>G (p.Asn64Lys)
2g.25161693A>GCA425180104POMCc.192T>C (p.Asn64=)
gnomAD v4
2g.25161693A>TCA346067585POMCc.192T>A (p.Asn64Lys)
2g.25161694T>ACA346067586POMCc.191A>T (p.Asn64Ile)
2g.25161694T>CCA346067587POMCc.191A>G (p.Asn64Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25161694T>GCA346067588POMCc.191A>C (p.Asn64Thr)
2g.25161694T=CA1239228393POMCc.191A= (p.Asn64=)
2g.25161696dupCA2840409594POMCc.191dup (p.Asn64LysfsTer?)
2g.25161695T>ACA346067589POMCc.190A>T (p.Asn64Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161695T>CCA346067590POMCc.190A>G (p.Asn64Asp)
gnomAD v4
2g.25161695T>GCA346067591POMCc.190A>C (p.Asn64His)
2g.25161695T=CA1239228397POMCc.190A= (p.Asn64=)
2g.25161696T>ACA425180112POMCc.189A>T (p.Gly63=)
gnomAD v4
2g.25161696T>CCA425180113POMCc.189A>G (p.Gly63=)
2g.25161696T>GCA425180115POMCc.189A>C (p.Gly63=)
dbSNP
2g.25161697C>ACA346067594POMCc.188G>T (p.Gly63Val)
gnomAD v4
2g.25161697C=CA1239228401POMCc.188G= (p.Gly63=)
2g.25161697C>GCA346067593POMCc.188G>C (p.Gly63Ala)
dbSNP gnomAD v4
2g.25161697C>TCA346067592POMCc.188G>A (p.Gly63Glu)
dbSNP gnomAD v2 gnomAD v4
2g.25161699delCA425180117POMCc.188del (p.Gly63GlufsTer8)
gnomAD v4 COSMIC
2g.25161698C>ACA346067595POMCc.187G>T (p.Gly63Ter)
gnomAD v4
2g.25161698C=CA1239228407POMCc.187G= (p.Gly63=)
2g.25161698C>GCA346067596POMCc.187G>C (p.Gly63Arg)
2g.25161698C>TCA346067597POMCc.187G>A (p.Gly63Arg)
dbSNP gnomAD v3 gnomAD v4
2g.25161699C>ACA1555358POMCc.186G>T (p.Pro62=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161699C=CA1239228416POMCc.186G= (p.Pro62=)
2g.25161699C>GCA1555360POMCc.186G>C (p.Pro62=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161699C>TCA1555359POMCc.186G>A (p.Pro62=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161700G>ACA1555361POMCc.185C>T (p.Pro62Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161700G>CCA346067598POMCc.185C>G (p.Pro62Arg)
2g.25161700G=CA1239228426POMCc.185C= (p.Pro62=)
2g.25161700G>TCA346067599POMCc.185C>A (p.Pro62Gln)
dbSNP gnomAD v2 gnomAD v4
2g.25161701G>ACA346067600POMCc.184C>T (p.Pro62Ser)
gnomAD v4 COSMIC
2g.25161701G>CCA346067601POMCc.184C>G (p.Pro62Ala)
2g.25161701G>TCA346067602POMCc.184C>A (p.Pro62Thr)
gnomAD v4
2g.25161702G>ACA425180134POMCc.183C>T (p.Phe61=)
dbSNP gnomAD v3 gnomAD v4
2g.25161702G>CCA346067603POMCc.183C>G (p.Phe61Leu)
2g.25161702G=CA1239228430POMCc.183C= (p.Phe61=)
2g.25161702G>TCA346067604POMCc.183C>A (p.Phe61Leu)
gnomAD v4
2g.25161703A>CCA346067607POMCc.182T>G (p.Phe61Cys)
gnomAD v4
2g.25161703A>GCA346067606POMCc.182T>C (p.Phe61Ser)
2g.25161703A>TCA346067605POMCc.182T>A (p.Phe61Tyr)
2g.25161704A>CCA346067608POMCc.181T>G (p.Phe61Val)
2g.25161704A>GCA346067609POMCc.181T>C (p.Phe61Leu)
2g.25161704A>TCA346067610POMCc.181T>A (p.Phe61Ile)
2g.25161705delCA2573051910POMCc.180del (p.Met60IlefsTer11)
ClinVar dbSNP
2g.25161705C>ACA346067611POMCc.180G>T (p.Met60Ile)
gnomAD v4
2g.25161705C=CA1239228435POMCc.180G= (p.Met60=)
2g.25161705C>GCA346067612POMCc.180G>C (p.Met60Ile)
2g.25161705C>TCA1555362POMCc.180G>A (p.Met60Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161706A=CA1239228439POMCc.179T= (p.Met60=)
2g.25161706A>CCA346067614POMCc.179T>G (p.Met60Arg)
2g.25161706A>GCA1555363POMCc.179T>C (p.Met60Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161706A>TCA346067613POMCc.179T>A (p.Met60Lys)
2g.25161707T>ACA346067615POMCc.178A>T (p.Met60Leu)
2g.25161707T>CCA1555364POMCc.178A>G (p.Met60Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161707T>GCA346067616POMCc.178A>C (p.Met60Leu)
gnomAD v4
2g.25161707T=CA1239228447POMCc.178A= (p.Met60=)
2g.25161708G>ACA425180153POMCc.177C>T (p.Pro59=)
2g.25161708G>CCA425180155POMCc.177C>G (p.Pro59=)
dbSNP gnomAD v4
2g.25161708G=CA1239228450POMCc.177C= (p.Pro59=)
2g.25161708G>TCA425180157POMCc.177C>A (p.Pro59=)
gnomAD v4
2g.25161709G>ACA1555365POMCc.176C>T (p.Pro59Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161709G>CCA346067617POMCc.176C>G (p.Pro59Arg)
2g.25161709G=CA1239228457POMCc.176C= (p.Pro59=)
2g.25161709G>TCA346067618POMCc.176C>A (p.Pro59His)
gnomAD v4
2g.25161710G>ACA346067619POMCc.175C>T (p.Pro59Ser)
gnomAD v4
2g.25161710G>CCA346067621POMCc.175C>G (p.Pro59Ala)
gnomAD v4
2g.25161710G=CA1239228458POMCc.175C= (p.Pro59=)
2g.25161710G>TCA346067620POMCc.175C>A (p.Pro59Thr)
gnomAD v4
2g.25161711A>CCA425180164POMCc.174T>G (p.Thr58=)
2g.25161711A>GCA425180163POMCc.174T>C (p.Thr58=)
gnomAD v4
2g.25161711A>TCA425180161POMCc.174T>A (p.Thr58=)
2g.25161711dupCA767173906POMCc.174dup (p.Pro59SerfsTer?)
dbSNP
2g.25161712G>ACA346067622POMCc.173C>T (p.Thr58Ile)
COSMIC
2g.25161712G>CCA346067623POMCc.173C>G (p.Thr58Ser)
2g.25161712G>TCA346067624POMCc.173C>A (p.Thr58Asn)
gnomAD v4
2g.25161713T>ACA346067625POMCc.172A>T (p.Thr58Ser)
2g.25161713T>CCA1555366POMCc.172A>G (p.Thr58Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161713T>GCA346067626POMCc.172A>C (p.Thr58Pro)
gnomAD v4
2g.25161713T=CA1239228463POMCc.172A= (p.Thr58=)
2g.25161714C>ACA346067627POMCc.171G>T (p.Glu57Asp)
gnomAD v4
2g.25161714C>GCA346067628POMCc.171G>C (p.Glu57Asp)
2g.25161714C>TCA425180175POMCc.171G>A (p.Glu57=)
2g.25161715T>ACA346067629POMCc.170A>T (p.Glu57Val)
gnomAD v4
2g.25161715T>CCA346067630POMCc.170A>G (p.Glu57Gly)
2g.25161715T>GCA346067631POMCc.170A>C (p.Glu57Ala)
2g.25161716C>ACA346067632POMCc.169G>T (p.Glu57Ter)
gnomAD v4
2g.25161716C=CA1239228471POMCc.169G= (p.Glu57=)
2g.25161716C>GCA43685040POMCc.169G>C (p.Glu57Gln)
dbSNP
2g.25161716C>TCA43685030POMCc.169G>A (p.Glu57Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161717G>ACA1555367POMCc.168C>T (p.Ala56=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161717G>CCA1555368POMCc.168C>G (p.Ala56=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161717G=CA1239228481POMCc.168C= (p.Ala56=)
2g.25161717G>TCA425180184POMCc.168C>A (p.Ala56=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161718G>ACA346067633POMCc.167C>T (p.Ala56Val)
gnomAD v4 COSMIC
2g.25161718G>CCA346067634POMCc.167C>G (p.Ala56Gly)
dbSNP gnomAD v2
2g.25161718G=CA1239228485POMCc.167C= (p.Ala56=)
2g.25161718G>TCA346067635POMCc.167C>A (p.Ala56Asp)
gnomAD v4 COSMIC

Number of alleles fetched