Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508358delCA2473783410MMACHCc.423del (p.Asn142ThrfsTer22)
c.252del (p.Asn85ThrfsTer22)
c.228del (p.Asn77ThrfsTer22)
 dbSNP
1g.45508355G>ACA275943MMACHCc.420G>A (p.Trp140Ter)
c.249G>A (p.Trp83Ter)
c.225G>A (p.Trp75Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508355G>CCA340132509MMACHCc.420G>C (p.Trp140Cys)
c.249G>C (p.Trp83Cys)
c.225G>C (p.Trp75Cys)
1g.45508355G=CA2473783411MMACHCc.420G= (p.Trp140=)
c.249G= (p.Trp83=)
c.225G= (p.Trp75=)
1g.45508355G>TCA340132510MMACHCc.420G>T (p.Trp140Cys)
c.249G>T (p.Trp83Cys)
c.225G>T (p.Trp75Cys)
1g.45508356G>ACA340132516MMACHCc.421G>A (p.Gly141Arg)
c.250G>A (p.Gly84Arg)
c.226G>A (p.Gly76Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.45508356G>CCA340132514MMACHCc.421G>C (p.Gly141Arg)
c.250G>C (p.Gly84Arg)
c.226G>C (p.Gly76Arg)
1g.45508356G=CA2473783412MMACHCc.421G= (p.Gly141=)
c.250G= (p.Gly84=)
c.226G= (p.Gly76=)
1g.45508356G>TCA340132511MMACHCc.421G>T (p.Gly141Trp)
c.250G>T (p.Gly84Trp)
c.226G>T (p.Gly76Trp)
1g.45508357G>ACA827731MMACHCc.422G>A (p.Gly141Glu)
c.251G>A (p.Gly84Glu)
c.227G>A (p.Gly76Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508357G>CCA340132524MMACHCc.422G>C (p.Gly141Ala)
c.251G>C (p.Gly84Ala)
c.227G>C (p.Gly76Ala)
1g.45508357G=CA2473783413MMACHCc.422G= (p.Gly141=)
c.251G= (p.Gly84=)
c.227G= (p.Gly76=)
1g.45508357G>TCA340132522MMACHCc.422G>T (p.Gly141Val)
c.251G>T (p.Gly84Val)
c.227G>T (p.Gly76Val)
 gnomAD v4
1g.45508358G>ACA417705682MMACHCc.423G>A (p.Gly141=)
c.252G>A (p.Gly84=)
c.228G>A (p.Gly76=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508358G>CCA21829375MMACHCc.423G>C (p.Gly141=)
c.252G>C (p.Gly84=)
c.228G>C (p.Gly76=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508358G=CA2473783414MMACHCc.423G= (p.Gly141=)
c.252G= (p.Gly84=)
c.228G= (p.Gly76=)
1g.45508358G>TCA417705680MMACHCc.423G>T (p.Gly141=)
c.252G>T (p.Gly84=)
c.228G>T (p.Gly76=)
 ClinVar gnomAD v4
1g.45508359A>CCA340132526MMACHCc.424A>C (p.Asn142His)
c.253A>C (p.Asn85His)
c.229A>C (p.Asn77His)
1g.45508359A>GCA340132529MMACHCc.424A>G (p.Asn142Asp)
c.253A>G (p.Asn85Asp)
c.229A>G (p.Asn77Asp)
1g.45508359A>TCA340132531MMACHCc.424A>T (p.Asn142Tyr)
c.253A>T (p.Asn85Tyr)
c.229A>T (p.Asn77Tyr)
1g.45508360A=CA1144208703MMACHCc.425A= (p.Asn142=)
c.254A= (p.Asn85=)
c.230A= (p.Asn77=)
1g.45508360A>CCA340132534MMACHCc.425A>C (p.Asn142Thr)
c.254A>C (p.Asn85Thr)
c.230A>C (p.Asn77Thr)
1g.45508360A>GCA827732MMACHCc.425A>G (p.Asn142Ser)
c.254A>G (p.Asn85Ser)
c.230A>G (p.Asn77Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508360A>TCA340132538MMACHCc.425A>T (p.Asn142Ile)
c.254A>T (p.Asn85Ile)
c.230A>T (p.Asn77Ile)
1g.45508361C>ACA21829382MMACHCc.426C>A (p.Asn142Lys)
c.255C>A (p.Asn85Lys)
c.231C>A (p.Asn77Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508361C=CA1143082309MMACHCc.426C= (p.Asn142=)
c.255C= (p.Asn85=)
c.231C= (p.Asn77=)
1g.45508361C>GCA340132543MMACHCc.426C>G (p.Asn142Lys)
c.255C>G (p.Asn85Lys)
c.231C>G (p.Asn77Lys)
 gnomAD v4
1g.45508361C>TCA417705694MMACHCc.426C>T (p.Asn142=)
c.255C>T (p.Asn85=)
c.231C>T (p.Asn77=)
 gnomAD v4
1g.45508362C>ACA340132545MMACHCc.427C>A (p.Gln143Lys)
c.256C>A (p.Gln86Lys)
c.232C>A (p.Gln78Lys)
1g.45508362C=CA2473783415MMACHCc.427C= (p.Gln143=)
c.256C= (p.Gln86=)
c.232C= (p.Gln78=)
1g.45508362C>GCA340132547MMACHCc.427C>G (p.Gln143Glu)
c.256C>G (p.Gln86Glu)
c.232C>G (p.Gln78Glu)
 gnomAD v4
1g.45508362C>TCA340132549MMACHCc.427C>T (p.Gln143Ter)
c.256C>T (p.Gln86Ter)
c.232C>T (p.Gln78Ter)
 ClinVar dbSNP
1g.45508363A=CA2473783416MMACHCc.428A= (p.Gln143=)
c.257A= (p.Gln86=)
c.233A= (p.Gln78=)
1g.45508363A>CCA340132557MMACHCc.428A>C (p.Gln143Pro)
c.257A>C (p.Gln86Pro)
c.233A>C (p.Gln78Pro)
1g.45508363A>GCA21829386MMACHCc.428A>G (p.Gln143Arg)
c.257A>G (p.Gln86Arg)
c.233A>G (p.Gln78Arg)
 dbSNP
1g.45508363A>TCA340132553MMACHCc.428A>T (p.Gln143Leu)
c.257A>T (p.Gln86Leu)
c.233A>T (p.Gln78Leu)
1g.45508364G>ACA827733MMACHCc.429G>A (p.Gln143=)
c.258G>A (p.Gln86=)
c.234G>A (p.Gln78=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508364G>CCA340132561MMACHCc.429G>C (p.Gln143His)
c.258G>C (p.Gln86His)
c.234G>C (p.Gln78His)
1g.45508364G=CA2473783417MMACHCc.429G= (p.Gln143=)
c.258G= (p.Gln86=)
c.234G= (p.Gln78=)
1g.45508364G>TCA340132564MMACHCc.429G>T (p.Gln143His)
c.258G>T (p.Gln86His)
c.234G>T (p.Gln78His)
1g.45508365G>ACA340132567MMACHCc.429+1G>A (n.429+1G>A)
c.258+1G>A (n.258+1G>A)
c.234+1G>A (n.234+1G>A)
1g.45508365G>CCA340132569MMACHCc.429+1G>C (n.429+1G>C)
c.258+1G>C (n.258+1G>C)
c.234+1G>C (n.234+1G>C)
 ClinVar dbSNP gnomAD v4
1g.45508365G=CA2473783418MMACHCc.429+1G= (n.429+1G=)
c.258+1G= (n.258+1G=)
c.234+1G= (n.234+1G=)
1g.45508365G>TCA340132571MMACHCc.429+1G>T (n.429+1G>T)
c.258+1G>T (n.258+1G>T)
c.234+1G>T (n.234+1G>T)
1g.45508366T>ACA340132574MMACHCc.429+2T>A (n.429+2T>A)
c.258+2T>A (n.258+2T>A)
c.234+2T>A (n.234+2T>A)
1g.45508366T>CCA340132576MMACHCc.429+2T>C (n.429+2T>C)
c.258+2T>C (n.258+2T>C)
c.234+2T>C (n.234+2T>C)
 gnomAD v4
1g.45508366T>GCA340132579MMACHCc.429+2T>G (n.429+2T>G)
c.258+2T>G (n.258+2T>G)
c.234+2T>G (n.234+2T>G)
1g.45508371_45508395delCA2573132411MMACHCc.429+7_429+31del (n.429+7_429+31del)
c.258+7_258+31del (n.258+7_258+31del)
c.234+7_234+31del (n.234+7_234+31del)
 ClinVar dbSNP
1g.45508367G>ACA2645390886MMACHCc.429+3G>A (n.429+3G>A)
c.258+3G>A (n.258+3G>A)
c.234+3G>A (n.234+3G>A)
 gnomAD v4
1g.45508368A>GCA645523901MMACHCc.429+4A>G (n.429+4A>G)
c.258+4A>G (n.258+4A>G)
c.234+4A>G (n.234+4A>G)
 COSMIC

Number of alleles fetched