Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508848G>ACA223191MMACHCc.482G>A (p.Arg161Gln)
c.311G>A (p.Arg104Gln)
c.287G>A (p.Arg96Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508848G>CCA340133169MMACHCc.482G>C (p.Arg161Pro)
c.311G>C (p.Arg104Pro)
c.287G>C (p.Arg96Pro)
1g.45508848G=CA1141580771MMACHCc.482G= (p.Arg161=)
c.311G= (p.Arg104=)
c.287G= (p.Arg96=)
1g.45508848G>TCA340133171MMACHCc.482G>T (p.Arg161Leu)
c.311G>T (p.Arg104Leu)
c.287G>T (p.Arg96Leu)
 ClinVar
1g.45508849A>CCA417881286MMACHCc.483A>C (p.Arg161=)
c.312A>C (p.Arg104=)
c.288A>C (p.Arg96=)
1g.45508849A>GCA417881288MMACHCc.483A>G (p.Arg161=)
c.312A>G (p.Arg104=)
c.288A>G (p.Arg96=)
1g.45508849A>TCA417881287MMACHCc.483A>T (p.Arg161=)
c.312A>T (p.Arg104=)
c.288A>T (p.Arg96=)
1g.45508850G>ACA340133176MMACHCc.484G>A (p.Gly162Arg)
c.313G>A (p.Gly105Arg)
c.289G>A (p.Gly97Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.45508850G>CCA340133172MMACHCc.484G>C (p.Gly162Arg)
c.313G>C (p.Gly105Arg)
c.289G>C (p.Gly97Arg)
 gnomAD v4
1g.45508850G=CA2473783669MMACHCc.484G= (p.Gly162=)
c.313G= (p.Gly105=)
c.289G= (p.Gly97=)
1g.45508850G>TCA340133174MMACHCc.484G>T (p.Gly162Trp)
c.313G>T (p.Gly105Trp)
c.289G>T (p.Gly97Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.45508853delCA2695198017MMACHCc.487del (p.Val163Ter)
c.316del (p.Val106Ter)
c.292del (p.Val98Ter)
1g.45508851G>ACA340133179MMACHCc.485G>A (p.Gly162Glu)
c.314G>A (p.Gly105Glu)
c.290G>A (p.Gly97Glu)
 dbSNP
1g.45508851G>CCA340133181MMACHCc.485G>C (p.Gly162Ala)
c.314G>C (p.Gly105Ala)
c.290G>C (p.Gly97Ala)
1g.45508851G>TCA340133182MMACHCc.485G>T (p.Gly162Val)
c.314G>T (p.Gly105Val)
c.290G>T (p.Gly97Val)
1g.45508852G>ACA417881289MMACHCc.486G>A (p.Gly162=)
c.315G>A (p.Gly105=)
c.291G>A (p.Gly97=)
 gnomAD v4
1g.45508852G>CCA417881291MMACHCc.486G>C (p.Gly162=)
c.315G>C (p.Gly105=)
c.291G>C (p.Gly97=)
1g.45508852G>TCA417881294MMACHCc.486G>T (p.Gly162=)
c.315G>T (p.Gly105=)
c.291G>T (p.Gly97=)
1g.45508853_45508856delCA2645391253MMACHCc.487_490del (p.Val163CysfsTer6)
c.316_319del (p.Val106CysfsTer6)
c.292_295del (p.Val98CysfsTer6)
 gnomAD v4
1g.45508853G>ACA340133184MMACHCc.487G>A (p.Val163Ile)
c.316G>A (p.Val106Ile)
c.292G>A (p.Val98Ile)
1g.45508853G>CCA340133185MMACHCc.487G>C (p.Val163Leu)
c.316G>C (p.Val106Leu)
c.292G>C (p.Val98Leu)
1g.45508853G>TCA340133187MMACHCc.487G>T (p.Val163Leu)
c.316G>T (p.Val106Leu)
c.292G>T (p.Val98Leu)
1g.45508855_45508857delCA2586966641MMACHCc.489_491del (p.Val164del)
c.318_320del (p.Val107del)
c.294_296del (p.Val99del)
1g.45508854T>ACA340133189MMACHCc.488T>A (p.Val163Glu)
c.317T>A (p.Val106Glu)
c.293T>A (p.Val98Glu)
1g.45508854T>CCA340133192MMACHCc.488T>C (p.Val163Ala)
c.317T>C (p.Val106Ala)
c.293T>C (p.Val98Ala)
 ClinVar dbSNP gnomAD v4
1g.45508854T>GCA340133194MMACHCc.488T>G (p.Val163Gly)
c.317T>G (p.Val106Gly)
c.293T>G (p.Val98Gly)
1g.45508854T=CA2473783670MMACHCc.488T= (p.Val163=)
c.317T= (p.Val106=)
c.293T= (p.Val98=)
1g.45508855A>CCA417881298MMACHCc.489A>C (p.Val163=)
c.318A>C (p.Val106=)
c.294A>C (p.Val98=)
1g.45508855A>GCA417881299MMACHCc.489A>G (p.Val163=)
c.318A>G (p.Val106=)
c.294A>G (p.Val98=)
1g.45508855A>TCA417881300MMACHCc.489A>T (p.Val163=)
c.318A>T (p.Val106=)
c.294A>T (p.Val98=)
1g.45508856G>ACA340133196MMACHCc.490G>A (p.Val164Met)
c.319G>A (p.Val107Met)
c.295G>A (p.Val99Met)
 ClinVar dbSNP gnomAD v4
1g.45508856G>CCA340133197MMACHCc.490G>C (p.Val164Leu)
c.319G>C (p.Val107Leu)
c.295G>C (p.Val99Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.45508856G=CA2473783672MMACHCc.490G= (p.Val164=)
c.319G= (p.Val107=)
c.295G= (p.Val99=)
1g.45508856G>TCA340133199MMACHCc.490G>T (p.Val164Leu)
c.319G>T (p.Val107Leu)
c.295G>T (p.Val99Leu)
1g.45508856_45508859delCA913075171MMACHCc.490_493del (p.Val164CysfsTer5)
c.319_322del (p.Val107CysfsTer5)
c.295_298del (p.Val99CysfsTer5)
1g.45508856_45508859delinsGTGCCA2473783671MMACHCc.490_493delinsGTGC (p.Val164=)
c.319_322delinsGTGC (p.Val107=)
c.295_298delinsGTGC (p.Val99=)
1g.45508857T>ACA340133202MMACHCc.491T>A (p.Val164Glu)
c.320T>A (p.Val107Glu)
c.296T>A (p.Val99Glu)
1g.45508857T>CCA340133205MMACHCc.491T>C (p.Val164Ala)
c.320T>C (p.Val107Ala)
c.296T>C (p.Val99Ala)
1g.45508857T>GCA340133203MMACHCc.491T>G (p.Val164Gly)
c.320T>G (p.Val107Gly)
c.296T>G (p.Val99Gly)
1g.45508863_45508865delCA658821026MMACHCc.497_499del (p.Leu166del)
c.326_328del (p.Leu109del)
c.302_304del (p.Leu101del)
 dbSNP gnomAD v4
1g.45508858G>ACA417881303MMACHCc.492G>A (p.Val164=)
c.321G>A (p.Val107=)
c.297G>A (p.Val99=)
1g.45508858G>CCA417881304MMACHCc.492G>C (p.Val164=)
c.321G>C (p.Val107=)
c.297G>C (p.Val99=)
1g.45508858G>TCA417881305MMACHCc.492G>T (p.Val164=)
c.321G>T (p.Val107=)
c.297G>T (p.Val99=)
1g.45508859C>ACA340133207MMACHCc.493C>A (p.Leu165Met)
c.322C>A (p.Leu108Met)
c.298C>A (p.Leu100Met)
1g.45508859C>GCA340133208MMACHCc.493C>G (p.Leu165Val)
c.322C>G (p.Leu108Val)
c.298C>G (p.Leu100Val)
1g.45508859C>TCA417881306MMACHCc.493C>T (p.Leu165=)
c.322C>T (p.Leu108=)
c.298C>T (p.Leu100=)
1g.45508860T>ACA340133209MMACHCc.494T>A (p.Leu165Gln)
c.323T>A (p.Leu108Gln)
c.299T>A (p.Leu100Gln)
1g.45508860T>CCA340133210MMACHCc.494T>C (p.Leu165Pro)
c.323T>C (p.Leu108Pro)
c.299T>C (p.Leu100Pro)
1g.45508860T>GCA340133211MMACHCc.494T>G (p.Leu165Arg)
c.323T>G (p.Leu108Arg)
c.299T>G (p.Leu100Arg)
1g.45508861G>ACA827775MMACHCc.495G>A (p.Leu165=)
c.324G>A (p.Leu108=)
c.300G>A (p.Leu100=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched