Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508922A>CCA417881432MMACHCc.556A>C (p.Arg186=)
c.385A>C (p.Arg129=)
c.361A>C (p.Arg121=)
1g.45508922A>GCA340133432MMACHCc.556A>G (p.Arg186Gly)
c.385A>G (p.Arg129Gly)
c.361A>G (p.Arg121Gly)
 gnomAD v4
1g.45508922A>TCA340133434MMACHCc.556A>T (p.Arg186Ter)
c.385A>T (p.Arg129Ter)
c.361A>T (p.Arg121Ter)
1g.45508923G>ACA827789MMACHCc.557G>A (p.Arg186Lys)
c.386G>A (p.Arg129Lys)
c.362G>A (p.Arg121Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508923G>CCA340133439MMACHCc.557G>C (p.Arg186Thr)
c.386G>C (p.Arg129Thr)
c.362G>C (p.Arg121Thr)
1g.45508923G=CA2473783709MMACHCc.557G= (p.Arg186=)
c.386G= (p.Arg129=)
c.362G= (p.Arg121=)
1g.45508923G>TCA340133436MMACHCc.557G>T (p.Arg186Ile)
c.386G>T (p.Arg129Ile)
c.362G>T (p.Arg121Ile)
1g.45508924A>CCA340133441MMACHCc.558A>C (p.Arg186Ser)
c.387A>C (p.Arg129Ser)
c.363A>C (p.Arg121Ser)
1g.45508924A>GCA417881435MMACHCc.558A>G (p.Arg186=)
c.387A>G (p.Arg129=)
c.363A>G (p.Arg121=)
1g.45508924A>TCA340133443MMACHCc.558A>T (p.Arg186Ser)
c.387A>T (p.Arg129Ser)
c.363A>T (p.Arg121Ser)
1g.45508924_45508936delCA913075176MMACHCc.558_570del (p.Ala187ProfsTer19)
c.387_399del (p.Ala130ProfsTer19)
c.363_375del (p.Ala122ProfsTer19)
1g.45508924_45508936delinsAGCTGACCGTATCCA2473783710MMACHCc.558_570delinsAGCTGACCGTATC (p.Arg186=)
c.387_399delinsAGCTGACCGTATC (p.Arg129=)
c.363_375delinsAGCTGACCGTATC (p.Arg121=)
1g.45508925G>ACA340133445MMACHCc.559G>A (p.Ala187Thr)
c.388G>A (p.Ala130Thr)
c.364G>A (p.Ala122Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.45508925G>CCA340133447MMACHCc.559G>C (p.Ala187Pro)
c.388G>C (p.Ala130Pro)
c.364G>C (p.Ala122Pro)
 gnomAD v4
1g.45508925G=CA2473783711MMACHCc.559G= (p.Ala187=)
c.388G= (p.Ala130=)
c.364G= (p.Ala122=)
1g.45508925G>TCA340133449MMACHCc.559G>T (p.Ala187Ser)
c.388G>T (p.Ala130Ser)
c.364G>T (p.Ala122Ser)
1g.45508927_45508938delCA658821031MMACHCc.561_572del (p.Asp188_Ala191del)
c.390_401del (p.Asp131_Ala134del)
c.366_377del (p.Asp123_Ala126del)
 ClinVar dbSNP
1g.45508926C>ACA340133451MMACHCc.560C>A (p.Ala187Asp)
c.389C>A (p.Ala130Asp)
c.365C>A (p.Ala122Asp)
1g.45508926C>GCA340133453MMACHCc.560C>G (p.Ala187Gly)
c.389C>G (p.Ala130Gly)
c.365C>G (p.Ala122Gly)
1g.45508926C>TCA340133454MMACHCc.560C>T (p.Ala187Val)
c.389C>T (p.Ala130Val)
c.365C>T (p.Ala122Val)
1g.45508927T>ACA417881439MMACHCc.561T>A (p.Ala187=)
c.390T>A (p.Ala130=)
c.366T>A (p.Ala122=)
1g.45508927T>CCA417881441MMACHCc.561T>C (p.Ala187=)
c.390T>C (p.Ala130=)
c.366T>C (p.Ala122=)
1g.45508927T>GCA417881442MMACHCc.561T>G (p.Ala187=)
c.390T>G (p.Ala130=)
c.366T>G (p.Ala122=)
1g.45508928G>ACA827790MMACHCc.562G>A (p.Asp188Asn)
c.391G>A (p.Asp131Asn)
c.367G>A (p.Asp123Asn)
 ClinVar dbSNP ExAC gnomAD v2
1g.45508928G>CCA340133458MMACHCc.562G>C (p.Asp188His)
c.391G>C (p.Asp131His)
c.367G>C (p.Asp123His)
1g.45508928G=CA1149038854MMACHCc.562G= (p.Asp188=)
c.391G= (p.Asp131=)
c.367G= (p.Asp123=)
1g.45508928G>TCA340133460MMACHCc.562G>T (p.Asp188Tyr)
c.391G>T (p.Asp131Tyr)
c.367G>T (p.Asp123Tyr)
1g.45508929A>CCA340133463MMACHCc.563A>C (p.Asp188Ala)
c.392A>C (p.Asp131Ala)
c.368A>C (p.Asp123Ala)
1g.45508929A>GCA340133467MMACHCc.563A>G (p.Asp188Gly)
c.392A>G (p.Asp131Gly)
c.368A>G (p.Asp123Gly)
1g.45508929A>TCA340133465MMACHCc.563A>T (p.Asp188Val)
c.392A>T (p.Asp131Val)
c.368A>T (p.Asp123Val)
 gnomAD v4
1g.45508929_45508930delCA913075177MMACHCc.563_564del (p.Asp188AlafsTer14)
c.392_393del (p.Asp131AlafsTer14)
c.368_369del (p.Asp123AlafsTer14)
1g.45508929_45508930delinsACCA2473783712MMACHCc.563_564delinsAC (p.Asp188=)
c.392_393delinsAC (p.Asp131=)
c.368_369delinsAC (p.Asp123=)
1g.45508930C>ACA340133469MMACHCc.564C>A (p.Asp188Glu)
c.393C>A (p.Asp131Glu)
c.369C>A (p.Asp123Glu)
1g.45508930C=CA2473783713MMACHCc.564C= (p.Asp188=)
c.393C= (p.Asp131=)
c.369C= (p.Asp123=)
1g.45508930C>GCA340133471MMACHCc.564C>G (p.Asp188Glu)
c.393C>G (p.Asp131Glu)
c.369C>G (p.Asp123Glu)
1g.45508930C>TCA417881448MMACHCc.564C>T (p.Asp188=)
c.393C>T (p.Asp131=)
c.369C>T (p.Asp123=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508931dupCA2645391258MMACHCc.565dup (p.Arg189ProfsTer14)
c.394dup (p.Arg132ProfsTer14)
c.370dup (p.Arg124ProfsTer14)
 gnomAD v4
1g.45508931delCA522810898MMACHCc.565del (p.Arg189ValfsTer21)
c.394del (p.Arg132ValfsTer21)
c.370del (p.Arg124ValfsTer21)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508932_45508940delCA2586966643MMACHCc.566_574del (p.Arg189_Ala191del)
c.395_403del (p.Arg132_Ala134del)
c.371_379del (p.Arg124_Ala126del)
1g.45508931C>ACA827791MMACHCc.565C>A (p.Arg189Ser)
c.394C>A (p.Arg132Ser)
c.370C>A (p.Arg124Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508931C=CA1143447009MMACHCc.565C= (p.Arg189=)
c.394C= (p.Arg132=)
c.370C= (p.Arg124=)
1g.45508931C>GCA340133474MMACHCc.565C>G (p.Arg189Gly)
c.394C>G (p.Arg132Gly)
c.370C>G (p.Arg124Gly)
1g.45508931C>TCA827792MMACHCc.565C>T (p.Arg189Cys)
c.394C>T (p.Arg132Cys)
c.370C>T (p.Arg124Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508932G>ACA827793MMACHCc.566G>A (p.Arg189His)
c.395G>A (p.Arg132His)
c.371G>A (p.Arg124His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508932G>CCA340133478MMACHCc.566G>C (p.Arg189Pro)
c.395G>C (p.Arg132Pro)
c.371G>C (p.Arg124Pro)
1g.45508932G=CA2473783714MMACHCc.566G= (p.Arg189=)
c.395G= (p.Arg132=)
c.371G= (p.Arg124=)
1g.45508932G>TCA340133480MMACHCc.566G>T (p.Arg189Leu)
c.395G>T (p.Arg132Leu)
c.371G>T (p.Arg124Leu)
 ClinVar gnomAD v4
1g.45508932dupCA913075178MMACHCc.566dup (p.Ile190TyrfsTer13)
c.395dup (p.Ile133TyrfsTer13)
c.371dup (p.Ile125TyrfsTer13)
1g.45508933T>ACA417881452MMACHCc.567T>A (p.Arg189=)
c.396T>A (p.Arg132=)
c.372T>A (p.Arg124=)
1g.45508933T>CCA417881450MMACHCc.567T>C (p.Arg189=)
c.396T>C (p.Arg132=)
c.372T>C (p.Arg124=)

Number of alleles fetched