Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508157_45508269dupCA2743432180MMACHCc.277-55_334dup
c.106-55_163dup
c.82-55_139dup
1g.45508256_45508264delinsACACCCA2580611161MMACHCc.321_329delinsACACC (p.Asn110AspfsTer13)
c.150_158delinsACACC (p.Asn53AspfsTer13)
c.126_134delinsACACC (p.Asn45AspfsTer13)
 ClinVar
1g.45508262delCA2645391254MMACHCc.327del (p.Asn110ThrfsTer14)
c.156del (p.Asn53ThrfsTer14)
c.132del (p.Asn45ThrfsTer14)
 gnomAD v4
1g.45508260C>ACA340132195MMACHCc.325C>A (p.Pro109Thr)
c.154C>A (p.Pro52Thr)
c.130C>A (p.Pro44Thr)
1g.45508260C=CA2473783359MMACHCc.325C= (p.Pro109=)
c.154C= (p.Pro52=)
c.130C= (p.Pro44=)
1g.45508260C>GCA340132196MMACHCc.325C>G (p.Pro109Ala)
c.154C>G (p.Pro52Ala)
c.130C>G (p.Pro44Ala)
1g.45508260C>TCA340132197MMACHCc.325C>T (p.Pro109Ser)
c.154C>T (p.Pro52Ser)
c.130C>T (p.Pro44Ser)
1g.45508260_45508264delinsCCCAACA2473783358MMACHCc.325_329delinsCCCAA (p.Pro109=)
c.154_158delinsCCCAA (p.Pro52=)
c.130_134delinsCCCAA (p.Pro44=)
1g.45508261C>ACA340132198MMACHCc.326C>A (p.Pro109His)
c.155C>A (p.Pro52His)
c.131C>A (p.Pro44His)
1g.45508261C=CA1148444789MMACHCc.326C= (p.Pro109=)
c.155C= (p.Pro52=)
c.131C= (p.Pro44=)
1g.45508261C>GCA340132199MMACHCc.326C>G (p.Pro109Arg)
c.155C>G (p.Pro52Arg)
c.131C>G (p.Pro44Arg)
1g.45508261C>TCA827702MMACHCc.326C>T (p.Pro109Leu)
c.155C>T (p.Pro52Leu)
c.131C>T (p.Pro44Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508261_45508262insATTGCTGACCA736190161MMACHCc.326_327insATTGCTGAC (p.Pro109_Asn110insLeuLeuThr)
c.155_156insATTGCTGAC (p.Pro52_Asn53insLeuLeuThr)
c.131_132insATTGCTGAC (p.Pro44_Asn45insLeuLeuThr)
 dbSNP
1g.45508263_45508266delCA312742MMACHCc.328_331del (p.Asn110AspfsTer13)
c.157_160del (p.Asn53AspfsTer13)
c.133_136del (p.Asn45AspfsTer13)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508261_45508262insATTGCA1001243618MMACHCc.326_327insATTG (p.Asn110LeufsTer30)
c.155_156insATTG (p.Asn53LeufsTer30)
c.131_132insATTG (p.Asn45LeufsTer30)
 dbSNP gnomAD v3 gnomAD v4
1g.45508262C>ACA417705501MMACHCc.327C>A (p.Pro109=)
c.156C>A (p.Pro52=)
c.132C>A (p.Pro44=)
1g.45508262C=CA2473783360MMACHCc.327C= (p.Pro109=)
c.156C= (p.Pro52=)
c.132C= (p.Pro44=)
1g.45508262C>GCA417705502MMACHCc.327C>G (p.Pro109=)
c.156C>G (p.Pro52=)
c.132C>G (p.Pro44=)
1g.45508262C>TCA417705503MMACHCc.327C>T (p.Pro109=)
c.156C>T (p.Pro52=)
c.132C>T (p.Pro44=)
 dbSNP
1g.45508262_45508264delinsATTGCTGACTACCA2573051583MMACHCc.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
c.156_158delinsATTGCTGACTAC (p.Asn53delinsLeuLeuThrThr)
c.132_134delinsATTGCTGACTAC (p.Asn45delinsLeuLeuThrThr)
 ClinVar dbSNP
1g.45508262_45508263insTGACTCA1001243631MMACHCc.327_328insTGACT (p.Asn110Ter)
c.156_157insTGACT (p.Asn53Ter)
c.132_133insTGACT (p.Asn45Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.45508263A=CA1144988325MMACHCc.328A= (p.Asn110=)
c.157A= (p.Asn53=)
c.133A= (p.Asn45=)
1g.45508263A>CCA827703MMACHCc.328A>C (p.Asn110His)
c.157A>C (p.Asn53His)
c.133A>C (p.Asn45His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508263A>GCA340132200MMACHCc.328A>G (p.Asn110Asp)
c.157A>G (p.Asn53Asp)
c.133A>G (p.Asn45Asp)
1g.45508263A>TCA340132201MMACHCc.328A>T (p.Asn110Tyr)
c.157A>T (p.Asn53Tyr)
c.133A>T (p.Asn45Tyr)
1g.45508264A=CA2473783361MMACHCc.329A= (p.Asn110=)
c.158A= (p.Asn53=)
c.134A= (p.Asn45=)
1g.45508264A>CCA340132203MMACHCc.329A>C (p.Asn110Thr)
c.158A>C (p.Asn53Thr)
c.134A>C (p.Asn45Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.45508264A>GCA827704MMACHCc.329A>G (p.Asn110Ser)
c.158A>G (p.Asn53Ser)
c.134A>G (p.Asn45Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508264A>TCA340132202MMACHCc.329A>T (p.Asn110Ile)
c.158A>T (p.Asn53Ile)
c.134A>T (p.Asn45Ile)
1g.45508265C>ACA340132204MMACHCc.330C>A (p.Asn110Lys)
c.159C>A (p.Asn53Lys)
c.135C>A (p.Asn45Lys)
1g.45508265C>GCA340132205MMACHCc.330C>G (p.Asn110Lys)
c.159C>G (p.Asn53Lys)
c.135C>G (p.Asn45Lys)
1g.45508265C>TCA417705504MMACHCc.330C>T (p.Asn110=)
c.159C>T (p.Asn53=)
c.135C>T (p.Asn45=)
1g.45508266C>ACA417705505MMACHCc.331C>A (p.Arg111=)
c.160C>A (p.Arg54=)
c.136C>A (p.Arg46=)
1g.45508266C=CA1141580768MMACHCc.331C= (p.Arg111=)
c.160C= (p.Arg54=)
c.136C= (p.Arg46=)
1g.45508266C>GCA340132206MMACHCc.331C>G (p.Arg111Gly)
c.160C>G (p.Arg54Gly)
c.136C>G (p.Arg46Gly)
1g.45508266C>TCA251789MMACHCc.331C>T (p.Arg111Ter)
c.160C>T (p.Arg54Ter)
c.136C>T (p.Arg46Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508267G>ACA827705MMACHCc.332G>A (p.Arg111Gln)
c.161G>A (p.Arg54Gln)
c.137G>A (p.Arg46Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508267G>CCA340132208MMACHCc.332G>C (p.Arg111Pro)
c.161G>C (p.Arg54Pro)
c.137G>C (p.Arg46Pro)
1g.45508267G=CA1143408233MMACHCc.332G= (p.Arg111=)
c.161G= (p.Arg54=)
c.137G= (p.Arg46=)
1g.45508267G>TCA340132207MMACHCc.332G>T (p.Arg111Leu)
c.161G>T (p.Arg54Leu)
c.137G>T (p.Arg46Leu)
1g.45508268A>CCA417705506MMACHCc.333A>C (p.Arg111=)
c.162A>C (p.Arg54=)
c.138A>C (p.Arg46=)
1g.45508268A>GCA417705507MMACHCc.333A>G (p.Arg111=)
c.162A>G (p.Arg54=)
c.138A>G (p.Arg46=)
1g.45508268A>TCA417705508MMACHCc.333A>T (p.Arg111=)
c.162A>T (p.Arg54=)
c.138A>T (p.Arg46=)
1g.45508269C>ACA340132209MMACHCc.334C>A (p.Arg112Ser)
c.163C>A (p.Arg55Ser)
c.139C>A (p.Arg47Ser)
1g.45508269C=CA1142953359MMACHCc.334C= (p.Arg112=)
c.163C= (p.Arg55=)
c.139C= (p.Arg47=)
1g.45508269C>GCA340132210MMACHCc.334C>G (p.Arg112Gly)
c.163C>G (p.Arg55Gly)
c.139C>G (p.Arg47Gly)
1g.45508269C>TCA827706MMACHCc.334C>T (p.Arg112Cys)
c.163C>T (p.Arg55Cys)
c.139C>T (p.Arg47Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508270G>ACA827708MMACHCc.335G>A (p.Arg112His)
c.164G>A (p.Arg55His)
c.140G>A (p.Arg47His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508270G>CCA340132211MMACHCc.335G>C (p.Arg112Pro)
c.164G>C (p.Arg55Pro)
c.140G>C (p.Arg47Pro)
1g.45508270G=CA2473783362MMACHCc.335G= (p.Arg112=)
c.164G= (p.Arg55=)
c.140G= (p.Arg47=)

Number of alleles fetched