Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80280193G>ACA5576773MAT1Ac.529C>T (p.Arg177Trp)
c.340C>T (p.Arg114Trp)
c.406C>T (p.Arg136Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280193G>CCA377362631MAT1Ac.529C>G (p.Arg177Gly)
c.340C>G (p.Arg114Gly)
c.406C>G (p.Arg136Gly)
10g.80280193G=CA1922577849MAT1Ac.529C= (p.Arg177=)
c.340C= (p.Arg114=)
c.406C= (p.Arg136=)
10g.80280193G>TCA210326839MAT1Ac.529C>A (p.Arg177=)
c.340C>A (p.Arg114=)
c.406C>A (p.Arg136=)
dbSNP
10g.80280194C>ACA470468080MAT1Ac.528G>T (p.Leu176=)
c.339G>T (p.Leu113=)
c.405G>T (p.Leu135=)
10g.80280194C>GCA470468082MAT1Ac.528G>C (p.Leu176=)
c.339G>C (p.Leu113=)
c.405G>C (p.Leu135=)
10g.80280194C>TCA470468087MAT1Ac.528G>A (p.Leu176=)
c.339G>A (p.Leu113=)
c.405G>A (p.Leu135=)
gnomAD v4
10g.80280195A=CA1922577852MAT1Ac.527T= (p.Leu176=)
c.338T= (p.Leu113=)
c.404T= (p.Leu135=)
10g.80280195A>CCA377362632MAT1Ac.527T>G (p.Leu176Arg)
c.338T>G (p.Leu113Arg)
c.404T>G (p.Leu135Arg)
10g.80280195A>GCA377362633MAT1Ac.527T>C (p.Leu176Pro)
c.338T>C (p.Leu113Pro)
c.404T>C (p.Leu135Pro)
10g.80280195A>TCA5576774MAT1Ac.527T>A (p.Leu176Gln)
c.338T>A (p.Leu113Gln)
c.404T>A (p.Leu135Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280196G>ACA470468095MAT1Ac.526C>T (p.Leu176=)
c.337C>T (p.Leu113=)
c.403C>T (p.Leu135=)
10g.80280196G>CCA377362634MAT1Ac.526C>G (p.Leu176Val)
c.337C>G (p.Leu113Val)
c.403C>G (p.Leu135Val)
10g.80280196G>TCA377362635MAT1Ac.526C>A (p.Leu176Met)
c.337C>A (p.Leu113Met)
c.403C>A (p.Leu135Met)
10g.80280197C>ACA377362638MAT1Ac.525G>T (p.Trp175Cys)
c.336G>T (p.Trp112Cys)
c.402G>T (p.Trp134Cys)
10g.80280197C=CA1922577853MAT1Ac.525G= (p.Trp175=)
c.336G= (p.Trp112=)
c.402G= (p.Trp134=)
10g.80280197C>GCA377362637MAT1Ac.525G>C (p.Trp175Cys)
c.336G>C (p.Trp112Cys)
c.402G>C (p.Trp134Cys)
10g.80280197C>TCA377362636MAT1Ac.525G>A (p.Trp175Ter)
c.336G>A (p.Trp112Ter)
c.402G>A (p.Trp134Ter)
dbSNP gnomAD v2 gnomAD v4
10g.80280198C>ACA377362639MAT1Ac.524G>T (p.Trp175Leu)
c.335G>T (p.Trp112Leu)
c.401G>T (p.Trp134Leu)
dbSNP gnomAD v2 gnomAD v4
10g.80280198C=CA1922577855MAT1Ac.524G= (p.Trp175=)
c.335G= (p.Trp112=)
c.401G= (p.Trp134=)
10g.80280198C>GCA377362640MAT1Ac.524G>C (p.Trp175Ser)
c.335G>C (p.Trp112Ser)
c.401G>C (p.Trp134Ser)
10g.80280198C>TCA377362641MAT1Ac.524G>A (p.Trp175Ter)
c.335G>A (p.Trp112Ter)
c.401G>A (p.Trp134Ter)
ClinVar dbSNP
10g.80280199A>CCA377362642MAT1Ac.523T>G (p.Trp175Gly)
c.334T>G (p.Trp112Gly)
c.400T>G (p.Trp134Gly)
10g.80280199A>GCA377362643MAT1Ac.523T>C (p.Trp175Arg)
c.334T>C (p.Trp112Arg)
c.400T>C (p.Trp134Arg)
COSMIC
10g.80280199A>TCA377362644MAT1Ac.523T>A (p.Trp175Arg)
c.334T>A (p.Trp112Arg)
c.400T>A (p.Trp134Arg)
10g.80280200G>ACA470468123MAT1Ac.522C>T (p.Pro174=)
c.333C>T (p.Pro111=)
c.399C>T (p.Pro133=)
10g.80280200G>CCA470468117MAT1Ac.522C>G (p.Pro174=)
c.333C>G (p.Pro111=)
c.399C>G (p.Pro133=)
10g.80280200G>TCA470468119MAT1Ac.522C>A (p.Pro174=)
c.333C>A (p.Pro111=)
c.399C>A (p.Pro133=)
10g.80280201G>ACA210326850MAT1Ac.521C>T (p.Pro174Leu)
c.332C>T (p.Pro111Leu)
c.398C>T (p.Pro133Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280201G>CCA377362645MAT1Ac.521C>G (p.Pro174Arg)
c.332C>G (p.Pro111Arg)
c.398C>G (p.Pro133Arg)
10g.80280201G=CA1922577857MAT1Ac.521C= (p.Pro174=)
c.332C= (p.Pro111=)
c.398C= (p.Pro133=)
10g.80280201G>TCA377362646MAT1Ac.521C>A (p.Pro174His)
c.332C>A (p.Pro111His)
c.398C>A (p.Pro133His)
COSMIC
10g.80280202G>ACA377362647MAT1Ac.520C>T (p.Pro174Ser)
c.331C>T (p.Pro111Ser)
c.397C>T (p.Pro133Ser)
gnomAD v4
10g.80280202G>CCA377362648MAT1Ac.520C>G (p.Pro174Ala)
c.331C>G (p.Pro111Ala)
c.397C>G (p.Pro133Ala)
10g.80280202G>TCA377362649MAT1Ac.520C>A (p.Pro174Thr)
c.331C>A (p.Pro111Thr)
c.397C>A (p.Pro133Thr)
10g.80280203G>ACA470468137MAT1Ac.519C>T (p.Leu173=)
c.330C>T (p.Leu110=)
c.396C>T (p.Leu132=)
dbSNP gnomAD v3 gnomAD v4
10g.80280203G>CCA470468141MAT1Ac.519C>G (p.Leu173=)
c.330C>G (p.Leu110=)
c.396C>G (p.Leu132=)
dbSNP
10g.80280203G=CA1922577859MAT1Ac.519C= (p.Leu173=)
c.330C= (p.Leu110=)
c.396C= (p.Leu132=)
10g.80280203G>TCA470468144MAT1Ac.519C>A (p.Leu173=)
c.330C>A (p.Leu110=)
c.396C>A (p.Leu132=)
10g.80280204A=CA1922577860MAT1Ac.518T= (p.Leu173=)
c.329T= (p.Leu110=)
c.395T= (p.Leu132=)
10g.80280204A>CCA377362651MAT1Ac.518T>G (p.Leu173Arg)
c.329T>G (p.Leu110Arg)
c.395T>G (p.Leu132Arg)
10g.80280204A>GCA377362650MAT1Ac.518T>C (p.Leu173Pro)
c.329T>C (p.Leu110Pro)
c.395T>C (p.Leu132Pro)
10g.80280204A>TCA210326855MAT1Ac.518T>A (p.Leu173His)
c.329T>A (p.Leu110His)
c.395T>A (p.Leu132His)
dbSNP
10g.80280205G>ACA377362652MAT1Ac.517C>T (p.Leu173Phe)
c.328C>T (p.Leu110Phe)
c.394C>T (p.Leu132Phe)
dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.80280205G>CCA377362653MAT1Ac.517C>G (p.Leu173Val)
c.328C>G (p.Leu110Val)
c.394C>G (p.Leu132Val)
10g.80280205G=CA1922577863MAT1Ac.517C= (p.Leu173=)
c.328C= (p.Leu110=)
c.394C= (p.Leu132=)
10g.80280205G>TCA377362654MAT1Ac.517C>A (p.Leu173Ile)
c.328C>A (p.Leu110Ile)
c.394C>A (p.Leu132Ile)
10g.80280206G>ACA470468158MAT1Ac.516C>T (p.Leu172=)
c.327C>T (p.Leu109=)
c.393C>T (p.Leu131=)
10g.80280206G>CCA470468161MAT1Ac.516C>G (p.Leu172=)
c.327C>G (p.Leu109=)
c.393C>G (p.Leu131=)
gnomAD v4
10g.80280206G>TCA470468163MAT1Ac.516C>A (p.Leu172=)
c.327C>A (p.Leu109=)
c.393C>A (p.Leu131=)
gnomAD v4

Number of alleles fetched