Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508972_45508980delCA2586966646MMACHCc.606_614del (p.Trp203_Tyr205del)
c.435_443del (p.Trp146_Tyr148del)
c.411_419del (p.Trp138_Tyr140del)
1g.45508975G>ACA259906MMACHCc.609G>A (p.Trp203Ter)
c.438G>A (p.Trp146Ter)
c.414G>A (p.Trp138Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508975G>CCA340133662MMACHCc.609G>C (p.Trp203Cys)
c.438G>C (p.Trp146Cys)
c.414G>C (p.Trp138Cys)
1g.45508975G=CA1148224331MMACHCc.609G= (p.Trp203=)
c.438G= (p.Trp146=)
c.414G= (p.Trp138=)
1g.45508975G>TCA340133664MMACHCc.609G>T (p.Trp203Cys)
c.438G>T (p.Trp146Cys)
c.414G>T (p.Trp138Cys)
1g.45508976A>CCA340133666MMACHCc.610A>C (p.Thr204Pro)
c.439A>C (p.Thr147Pro)
c.415A>C (p.Thr139Pro)
1g.45508976A>GCA340133667MMACHCc.610A>G (p.Thr204Ala)
c.439A>G (p.Thr147Ala)
c.415A>G (p.Thr139Ala)
1g.45508976A>TCA340133669MMACHCc.610A>T (p.Thr204Ser)
c.439A>T (p.Thr147Ser)
c.415A>T (p.Thr139Ser)
1g.45508977C>ACA340133671MMACHCc.611C>A (p.Thr204Asn)
c.440C>A (p.Thr147Asn)
c.416C>A (p.Thr139Asn)
1g.45508977C=CA2473783747MMACHCc.611C= (p.Thr204=)
c.440C= (p.Thr147=)
c.416C= (p.Thr139=)
1g.45508977C>GCA340133673MMACHCc.611C>G (p.Thr204Ser)
c.440C>G (p.Thr147Ser)
c.416C>G (p.Thr139Ser)
1g.45508977C>TCA340133675MMACHCc.611C>T (p.Thr204Ile)
c.440C>T (p.Thr147Ile)
c.416C>T (p.Thr139Ile)
 dbSNP gnomAD v4
1g.45508978T>ACA417881510MMACHCc.612T>A (p.Thr204=)
c.441T>A (p.Thr147=)
c.417T>A (p.Thr139=)
 dbSNP
1g.45508978T>CCA417881511MMACHCc.612T>C (p.Thr204=)
c.441T>C (p.Thr147=)
c.417T>C (p.Thr139=)
1g.45508978T>GCA417881512MMACHCc.612T>G (p.Thr204=)
c.441T>G (p.Thr147=)
c.417T>G (p.Thr139=)
1g.45508978T=CA2473783748MMACHCc.612T= (p.Thr204=)
c.441T= (p.Thr147=)
c.417T= (p.Thr139=)
1g.45508979T>ACA340133680MMACHCc.613T>A (p.Tyr205Asn)
c.442T>A (p.Tyr148Asn)
c.418T>A (p.Tyr140Asn)
1g.45508979T>CCA340133679MMACHCc.613T>C (p.Tyr205His)
c.442T>C (p.Tyr148His)
c.418T>C (p.Tyr140His)
1g.45508979T>GCA340133677MMACHCc.613T>G (p.Tyr205Asp)
c.442T>G (p.Tyr148Asp)
c.418T>G (p.Tyr140Asp)
1g.45508979T=CA2473783749MMACHCc.613T= (p.Tyr205=)
c.442T= (p.Tyr148=)
c.418T= (p.Tyr140=)
1g.45508980A>CCA340133682MMACHCc.614A>C (p.Tyr205Ser)
c.443A>C (p.Tyr148Ser)
c.419A>C (p.Tyr140Ser)
1g.45508980A>GCA340133686MMACHCc.614A>G (p.Tyr205Cys)
c.443A>G (p.Tyr148Cys)
c.419A>G (p.Tyr140Cys)
 gnomAD v4
1g.45508980A>TCA340133684MMACHCc.614A>T (p.Tyr205Phe)
c.443A>T (p.Tyr148Phe)
c.419A>T (p.Tyr140Phe)
1g.45508980dupCA736191778MMACHCc.614dup (p.Tyr205Ter)
c.443dup (p.Tyr148Ter)
c.419dup (p.Tyr140Ter)
 ClinVar dbSNP
1g.45508980_45508981delinsACCA2473783750MMACHCc.614_615delinsAC (p.Tyr205=)
c.443_444delinsAC (p.Tyr148=)
c.419_420delinsAC (p.Tyr140=)
1g.45508981C>ACA340133688MMACHCc.615C>A (p.Tyr205Ter)
c.444C>A (p.Tyr148Ter)
c.420C>A (p.Tyr140Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508981C=CA1148468605MMACHCc.615C= (p.Tyr205=)
c.444C= (p.Tyr148=)
c.420C= (p.Tyr140=)
1g.45508981C>GCA827807MMACHCc.615C>G (p.Tyr205Ter)
c.444C>G (p.Tyr148Ter)
c.420C>G (p.Tyr140Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508981C>TCA827808MMACHCc.615C>T (p.Tyr205=)
c.444C>T (p.Tyr148=)
c.420C>T (p.Tyr140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508982dupCA913075181MMACHCc.616dup (p.Arg206ProfsTer?)
c.445dup (p.Arg149ProfsTer?)
c.421dup (p.Arg141ProfsTer?)
1g.45508982delCA736191791MMACHCc.616del (p.Arg206GlyfsTer4)
c.445del (p.Arg149GlyfsTer4)
c.421del (p.Arg141GlyfsTer4)
 ClinVar dbSNP
1g.45508982C>ACA417881514MMACHCc.616C>A (p.Arg206=)
c.445C>A (p.Arg149=)
c.421C>A (p.Arg141=)
1g.45508982C=CA1145055217MMACHCc.616C= (p.Arg206=)
c.445C= (p.Arg149=)
c.421C= (p.Arg141=)
1g.45508982C>GCA21829803MMACHCc.616C>G (p.Arg206Gly)
c.445C>G (p.Arg149Gly)
c.421C>G (p.Arg141Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.45508982C>TCA312738MMACHCc.616C>T (p.Arg206Trp)
c.445C>T (p.Arg149Trp)
c.421C>T (p.Arg141Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508983G>ACA827810MMACHCc.617G>A (p.Arg206Gln)
c.446G>A (p.Arg149Gln)
c.422G>A (p.Arg141Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508983G>CCA340133696MMACHCc.617G>C (p.Arg206Pro)
c.446G>C (p.Arg149Pro)
c.422G>C (p.Arg141Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508983G=CA1143816489MMACHCc.617G= (p.Arg206=)
c.446G= (p.Arg149=)
c.422G= (p.Arg141=)
1g.45508983G>TCA340133698MMACHCc.617G>T (p.Arg206Leu)
c.446G>T (p.Arg149Leu)
c.422G>T (p.Arg141Leu)
1g.45508985dupCA827809MMACHCc.619dup (p.Asp207GlyfsTer?)
c.448dup (p.Asp150GlyfsTer?)
c.424dup (p.Asp142GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508985delCA2573132354MMACHCc.619del (p.Asp207MetfsTer3)
c.448del (p.Asp150MetfsTer3)
c.424del (p.Asp142MetfsTer3)
 ClinVar dbSNP
1g.45508984G>ACA417881520MMACHCc.618G>A (p.Arg206=)
c.447G>A (p.Arg149=)
c.423G>A (p.Arg141=)
 ClinVar dbSNP gnomAD v4
1g.45508984G>CCA417881517MMACHCc.618G>C (p.Arg206=)
c.447G>C (p.Arg149=)
c.423G>C (p.Arg141=)
1g.45508984G=CA2473783751MMACHCc.618G= (p.Arg206=)
c.447G= (p.Arg149=)
c.423G= (p.Arg141=)
1g.45508984G>TCA417881516MMACHCc.618G>T (p.Arg206=)
c.447G>T (p.Arg149=)
c.423G>T (p.Arg141=)
1g.45508985G>ACA340133700MMACHCc.619G>A (p.Asp207Asn)
c.448G>A (p.Asp150Asn)
c.424G>A (p.Asp142Asn)
 gnomAD v4
1g.45508985G>CCA21829811MMACHCc.619G>C (p.Asp207His)
c.448G>C (p.Asp150His)
c.424G>C (p.Asp142His)
 dbSNP gnomAD v3 gnomAD v4
1g.45508985G=CA2473783752MMACHCc.619G= (p.Asp207=)
c.448G= (p.Asp150=)
c.424G= (p.Asp142=)
1g.45508985G>TCA340133701MMACHCc.619G>T (p.Asp207Tyr)
c.448G>T (p.Asp150Tyr)
c.424G>T (p.Asp142Tyr)
1g.45508986A>CCA340133708MMACHCc.620A>C (p.Asp207Ala)
c.449A>C (p.Asp150Ala)
c.425A>C (p.Asp142Ala)

Number of alleles fetched