Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80280173C>ACA377362589MAT1Ac.549G>T (p.Gln183His)
c.360G>T (p.Gln120His)
c.426G>T (p.Gln142His)
10g.80280173C>GCA377362590MAT1Ac.549G>C (p.Gln183His)
c.360G>C (p.Gln120His)
c.426G>C (p.Gln142His)
10g.80280173C>TCA470467954MAT1Ac.549G>A (p.Gln183=)
c.360G>A (p.Gln120=)
c.426G>A (p.Gln142=)
10g.80280174T>ACA377362591MAT1Ac.548A>T (p.Gln183Leu)
c.359A>T (p.Gln120Leu)
c.425A>T (p.Gln142Leu)
10g.80280174T>CCA377362592MAT1Ac.548A>G (p.Gln183Arg)
c.359A>G (p.Gln120Arg)
c.425A>G (p.Gln142Arg)
 gnomAD v4
10g.80280174T>GCA5576769MAT1Ac.548A>C (p.Gln183Pro)
c.359A>C (p.Gln120Pro)
c.425A>C (p.Gln142Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280174T=CA1922577835MAT1Ac.548A= (p.Gln183=)
c.359A= (p.Gln120=)
c.425A= (p.Gln142=)
10g.80280175G>ACA377362594MAT1Ac.547C>T (p.Gln183Ter)
c.358C>T (p.Gln120Ter)
c.424C>T (p.Gln142Ter)
10g.80280175G>CCA377362595MAT1Ac.547C>G (p.Gln183Glu)
c.358C>G (p.Gln120Glu)
c.424C>G (p.Gln142Glu)
 gnomAD v4
10g.80280175G>TCA377362593MAT1Ac.547C>A (p.Gln183Lys)
c.358C>A (p.Gln120Lys)
c.424C>A (p.Gln142Lys)
 ClinVar
10g.80280176A=CA1922577836MAT1Ac.546T= (p.Thr182=)
c.357T= (p.Thr119=)
c.423T= (p.Thr141=)
10g.80280176A>CCA470467967MAT1Ac.546T>G (p.Thr182=)
c.357T>G (p.Thr119=)
c.423T>G (p.Thr141=)
10g.80280176A>GCA470467970MAT1Ac.546T>C (p.Thr182=)
c.357T>C (p.Thr119=)
c.423T>C (p.Thr141=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280176A>TCA470467972MAT1Ac.546T>A (p.Thr182=)
c.357T>A (p.Thr119=)
c.423T>A (p.Thr141=)
10g.80280177G>ACA377362596MAT1Ac.545C>T (p.Thr182Ile)
c.356C>T (p.Thr119Ile)
c.422C>T (p.Thr141Ile)
 ClinVar
10g.80280177G>CCA377362597MAT1Ac.545C>G (p.Thr182Ser)
c.356C>G (p.Thr119Ser)
c.422C>G (p.Thr141Ser)
10g.80280177G>TCA377362598MAT1Ac.545C>A (p.Thr182Asn)
c.356C>A (p.Thr119Asn)
c.422C>A (p.Thr141Asn)
10g.80280178T>ACA377362599MAT1Ac.544A>T (p.Thr182Ser)
c.355A>T (p.Thr119Ser)
c.421A>T (p.Thr141Ser)
10g.80280178T>CCA377362600MAT1Ac.544A>G (p.Thr182Ala)
c.355A>G (p.Thr119Ala)
c.421A>G (p.Thr141Ala)
10g.80280178T>GCA377362601MAT1Ac.544A>C (p.Thr182Pro)
c.355A>C (p.Thr119Pro)
c.421A>C (p.Thr141Pro)
10g.80280179C>ACA377362603MAT1Ac.543G>T (p.Lys181Asn)
c.354G>T (p.Lys118Asn)
c.420G>T (p.Lys140Asn)
10g.80280179C>GCA377362602MAT1Ac.543G>C (p.Lys181Asn)
c.354G>C (p.Lys118Asn)
c.420G>C (p.Lys140Asn)
10g.80280179C>TCA470467986MAT1Ac.543G>A (p.Lys181=)
c.354G>A (p.Lys118=)
c.420G>A (p.Lys140=)
10g.80280180T>ACA377362604MAT1Ac.542A>T (p.Lys181Met)
c.353A>T (p.Lys118Met)
c.419A>T (p.Lys140Met)
10g.80280180T>CCA377362605MAT1Ac.542A>G (p.Lys181Arg)
c.353A>G (p.Lys118Arg)
c.419A>G (p.Lys140Arg)
10g.80280180T>GCA377362606MAT1Ac.542A>C (p.Lys181Thr)
c.353A>C (p.Lys118Thr)
c.419A>C (p.Lys140Thr)
10g.80280181T>ACA377362607MAT1Ac.541A>T (p.Lys181Ter)
c.352A>T (p.Lys118Ter)
c.418A>T (p.Lys140Ter)
10g.80280181T>CCA377362608MAT1Ac.541A>G (p.Lys181Glu)
c.352A>G (p.Lys118Glu)
c.418A>G (p.Lys140Glu)
10g.80280181T>GCA377362609MAT1Ac.541A>C (p.Lys181Gln)
c.352A>C (p.Lys118Gln)
c.418A>C (p.Lys140Gln)
 gnomAD v4
10g.80280182A=CA1922577838MAT1Ac.540T= (p.Ser180=)
c.351T= (p.Ser117=)
c.417T= (p.Ser139=)
10g.80280182A>CCA470468003MAT1Ac.540T>G (p.Ser180=)
c.351T>G (p.Ser117=)
c.417T>G (p.Ser139=)
10g.80280182A>GCA470468005MAT1Ac.540T>C (p.Ser180=)
c.351T>C (p.Ser117=)
c.417T>C (p.Ser139=)
 dbSNP gnomAD v3 gnomAD v4
10g.80280182A>TCA470468008MAT1Ac.540T>A (p.Ser180=)
c.351T>A (p.Ser117=)
c.417T>A (p.Ser139=)
10g.80280182dupCA2574455921MAT1Ac.540dup (p.Lys181Ter)
c.351dup (p.Lys118Ter)
c.417dup (p.Lys140Ter)
10g.80280183G>ACA377362610MAT1Ac.539C>T (p.Ser180Phe)
c.350C>T (p.Ser117Phe)
c.416C>T (p.Ser139Phe)
10g.80280183G>CCA377362612MAT1Ac.539C>G (p.Ser180Cys)
c.350C>G (p.Ser117Cys)
c.416C>G (p.Ser139Cys)
 dbSNP gnomAD v4
10g.80280183G=CA1922577840MAT1Ac.539C= (p.Ser180=)
c.350C= (p.Ser117=)
c.416C= (p.Ser139=)
10g.80280183G>TCA377362611MAT1Ac.539C>A (p.Ser180Tyr)
c.350C>A (p.Ser117Tyr)
c.416C>A (p.Ser139Tyr)
10g.80280183_80280184insCACA210326818MAT1Ac.538_539insTG (p.Ser180LeufsTer6)
c.349_350insTG (p.Ser117LeufsTer6)
c.415_416insTG (p.Ser139LeufsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280184A>CCA377362613MAT1Ac.538T>G (p.Ser180Ala)
c.349T>G (p.Ser117Ala)
c.415T>G (p.Ser139Ala)
10g.80280184A>GCA377362614MAT1Ac.538T>C (p.Ser180Pro)
c.349T>C (p.Ser117Pro)
c.415T>C (p.Ser139Pro)
10g.80280184A>TCA377362615MAT1Ac.538T>A (p.Ser180Thr)
c.349T>A (p.Ser117Thr)
c.415T>A (p.Ser139Thr)
10g.80280185G>ACA470468022MAT1Ac.537C>T (p.Asp179=)
c.348C>T (p.Asp116=)
c.414C>T (p.Asp138=)
 dbSNP
10g.80280185G>CCA377362616MAT1Ac.537C>G (p.Asp179Glu)
c.348C>G (p.Asp116Glu)
c.414C>G (p.Asp138Glu)
 gnomAD v4
10g.80280185G=CA1922577844MAT1Ac.537C= (p.Asp179=)
c.348C= (p.Asp116=)
c.414C= (p.Asp138=)
10g.80280185G>TCA377362617MAT1Ac.537C>A (p.Asp179Glu)
c.348C>A (p.Asp116Glu)
c.414C>A (p.Asp138Glu)
10g.80280186T>ACA377362618MAT1Ac.536A>T (p.Asp179Val)
c.347A>T (p.Asp116Val)
c.413A>T (p.Asp138Val)
 ClinVar
10g.80280186T>CCA377362619MAT1Ac.536A>G (p.Asp179Gly)
c.347A>G (p.Asp116Gly)
c.413A>G (p.Asp138Gly)
10g.80280186T>GCA377362620MAT1Ac.536A>C (p.Asp179Ala)
c.347A>C (p.Asp116Ala)
c.413A>C (p.Asp138Ala)
10g.80280187C>ACA377362621MAT1Ac.535G>T (p.Asp179Tyr)
c.346G>T (p.Asp116Tyr)
c.412G>T (p.Asp138Tyr)
10g.80280187C>GCA377362622MAT1Ac.535G>C (p.Asp179His)
c.346G>C (p.Asp116His)
c.412G>C (p.Asp138His)
10g.80280187C>TCA377362623MAT1Ac.535G>A (p.Asp179Asn)
c.346G>A (p.Asp116Asn)
c.412G>A (p.Asp138Asn)
10g.80280188A>CCA470468039MAT1Ac.534T>G (p.Pro178=)
c.345T>G (p.Pro115=)
c.411T>G (p.Pro137=)
10g.80280188A>GCA470468041MAT1Ac.534T>C (p.Pro178=)
c.345T>C (p.Pro115=)
c.411T>C (p.Pro137=)
10g.80280188A>TCA470468044MAT1Ac.534T>A (p.Pro178=)
c.345T>A (p.Pro115=)
c.411T>A (p.Pro137=)
10g.80280189G>ACA377362626MAT1Ac.533C>T (p.Pro178Leu)
c.344C>T (p.Pro115Leu)
c.410C>T (p.Pro137Leu)
 COSMIC
10g.80280189G>CCA377362625MAT1Ac.533C>G (p.Pro178Arg)
c.344C>G (p.Pro115Arg)
c.410C>G (p.Pro137Arg)
10g.80280189G>TCA377362624MAT1Ac.533C>A (p.Pro178His)
c.344C>A (p.Pro115His)
c.410C>A (p.Pro137His)
10g.80280190G>ACA377362627MAT1Ac.532C>T (p.Pro178Ser)
c.343C>T (p.Pro115Ser)
c.409C>T (p.Pro137Ser)
10g.80280190G>CCA377362629MAT1Ac.532C>G (p.Pro178Ala)
c.343C>G (p.Pro115Ala)
c.409C>G (p.Pro137Ala)
10g.80280190G>TCA377362628MAT1Ac.532C>A (p.Pro178Thr)
c.343C>A (p.Pro115Thr)
c.409C>A (p.Pro137Thr)
10g.80280191C>ACA5576770MAT1Ac.531G>T (p.Arg177=)
c.342G>T (p.Arg114=)
c.408G>T (p.Arg136=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280191C=CA1922577845MAT1Ac.531G= (p.Arg177=)
c.342G= (p.Arg114=)
c.408G= (p.Arg136=)
10g.80280191C>GCA470468062MAT1Ac.531G>C (p.Arg177=)
c.342G>C (p.Arg114=)
c.408G>C (p.Arg136=)
10g.80280191C>TCA470468065MAT1Ac.531G>A (p.Arg177=)
c.342G>A (p.Arg114=)
c.408G>A (p.Arg136=)
 gnomAD v4
10g.80280192C>ACA377362630MAT1Ac.530G>T (p.Arg177Leu)
c.341G>T (p.Arg114Leu)
c.407G>T (p.Arg136Leu)
10g.80280192C=CA1922577847MAT1Ac.530G= (p.Arg177=)
c.341G= (p.Arg114=)
c.407G= (p.Arg136=)
10g.80280192C>GCA5576772MAT1Ac.530G>C (p.Arg177Pro)
c.341G>C (p.Arg114Pro)
c.407G>C (p.Arg136Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280192C>TCA5576771MAT1Ac.530G>A (p.Arg177Gln)
c.341G>A (p.Arg114Gln)
c.407G>A (p.Arg136Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
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
10g.80280207A=CA1922577865MAT1Ac.515T= (p.Leu172=)
c.326T= (p.Leu109=)
c.392T= (p.Leu131=)
10g.80280207A>CCA377362655MAT1Ac.515T>G (p.Leu172Arg)
c.326T>G (p.Leu109Arg)
c.392T>G (p.Leu131Arg)
10g.80280207A>GCA377362656MAT1Ac.515T>C (p.Leu172Pro)
c.326T>C (p.Leu109Pro)
c.392T>C (p.Leu131Pro)
 dbSNP
10g.80280207A>TCA377362657MAT1Ac.515T>A (p.Leu172His)
c.326T>A (p.Leu109His)
c.392T>A (p.Leu131His)
10g.80280208G>ACA377362658MAT1Ac.514C>T (p.Leu172Phe)
c.325C>T (p.Leu109Phe)
c.391C>T (p.Leu131Phe)
10g.80280208G>CCA377362659MAT1Ac.514C>G (p.Leu172Val)
c.325C>G (p.Leu109Val)
c.391C>G (p.Leu131Val)
10g.80280208G>TCA377362660MAT1Ac.514C>A (p.Leu172Ile)
c.325C>A (p.Leu109Ile)
c.391C>A (p.Leu131Ile)
 COSMIC
10g.80280209G>ACA470468177MAT1Ac.513C>T (p.Gly171=)
c.324C>T (p.Gly108=)
c.390C>T (p.Gly130=)
10g.80280209G>CCA470468180MAT1Ac.513C>G (p.Gly171=)
c.324C>G (p.Gly108=)
c.390C>G (p.Gly130=)
10g.80280209G>TCA470468183MAT1Ac.513C>A (p.Gly171=)
c.324C>A (p.Gly108=)
c.390C>A (p.Gly130=)
10g.80280210C>ACA377362661MAT1Ac.512G>T (p.Gly171Val)
c.323G>T (p.Gly108Val)
c.389G>T (p.Gly130Val)
10g.80280210C>GCA377362662MAT1Ac.512G>C (p.Gly171Ala)
c.323G>C (p.Gly108Ala)
c.389G>C (p.Gly130Ala)
10g.80280210C>TCA377362663MAT1Ac.512G>A (p.Gly171Asp)
c.323G>A (p.Gly108Asp)
c.389G>A (p.Gly130Asp)
10g.80280211C>ACA377362665MAT1Ac.511G>T (p.Gly171Cys)
c.322G>T (p.Gly108Cys)
c.388G>T (p.Gly130Cys)
10g.80280211C=CA1922577867MAT1Ac.511G= (p.Gly171=)
c.322G= (p.Gly108=)
c.388G= (p.Gly130=)
10g.80280211C>GCA377362664MAT1Ac.511G>C (p.Gly171Arg)
c.322G>C (p.Gly108Arg)
c.388G>C (p.Gly130Arg)
10g.80280211C>TCA5576775MAT1Ac.511G>A (p.Gly171Ser)
c.322G>A (p.Gly108Ser)
c.388G>A (p.Gly130Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280212G>ACA5576776MAT1Ac.510C>T (p.Ser170=)
c.321C>T (p.Ser107=)
c.387C>T (p.Ser129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280212G>CCA470468200MAT1Ac.510C>G (p.Ser170=)
c.321C>G (p.Ser107=)
c.387C>G (p.Ser129=)
10g.80280212G=CA1922577869MAT1Ac.510C= (p.Ser170=)
c.321C= (p.Ser107=)
c.387C= (p.Ser129=)
10g.80280212G>TCA470468204MAT1Ac.510C>A (p.Ser170=)
c.321C>A (p.Ser107=)
c.387C>A (p.Ser129=)
10g.80280213G>ACA377362666MAT1Ac.509C>T (p.Ser170Phe)
c.320C>T (p.Ser107Phe)
c.386C>T (p.Ser129Phe)
 COSMIC
10g.80280213G>CCA377362667MAT1Ac.509C>G (p.Ser170Cys)
c.320C>G (p.Ser107Cys)
c.386C>G (p.Ser129Cys)
10g.80280213G>TCA377362668MAT1Ac.509C>A (p.Ser170Tyr)
c.320C>A (p.Ser107Tyr)
c.386C>A (p.Ser129Tyr)
10g.80280214A=CA1922577871MAT1Ac.508T= (p.Ser170=)
c.319T= (p.Ser107=)
c.385T= (p.Ser129=)
10g.80280214A>CCA377362669MAT1Ac.508T>G (p.Ser170Ala)
c.319T>G (p.Ser107Ala)
c.385T>G (p.Ser129Ala)
10g.80280214A>GCA377362670MAT1Ac.508T>C (p.Ser170Pro)
c.319T>C (p.Ser107Pro)
c.385T>C (p.Ser129Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280214A>TCA377362671MAT1Ac.508T>A (p.Ser170Thr)
c.319T>A (p.Ser107Thr)
c.385T>A (p.Ser129Thr)
10g.80280215G>ACA470468216MAT1Ac.507C>T (p.Arg169=)
c.318C>T (p.Arg106=)
c.384C>T (p.Arg128=)
 gnomAD v4
10g.80280215G>CCA470468219MAT1Ac.507C>G (p.Arg169=)
c.318C>G (p.Arg106=)
c.384C>G (p.Arg128=)
10g.80280215G=CA1922577873MAT1Ac.507C= (p.Arg169=)
c.318C= (p.Arg106=)
c.384C= (p.Arg128=)
10g.80280215G>TCA470468221MAT1Ac.507C>A (p.Arg169=)
c.318C>A (p.Arg106=)
c.384C>A (p.Arg128=)
 dbSNP
10g.80280216C>ACA377362672MAT1Ac.506G>T (p.Arg169Leu)
c.317G>T (p.Arg106Leu)
c.383G>T (p.Arg128Leu)
 dbSNP gnomAD v4
10g.80280216C=CA1922577875MAT1Ac.506G= (p.Arg169=)
c.317G= (p.Arg106=)
c.383G= (p.Arg128=)
10g.80280216C>GCA5576777MAT1Ac.506G>C (p.Arg169Pro)
c.317G>C (p.Arg106Pro)
c.383G>C (p.Arg128Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280216C>TCA5576778MAT1Ac.506G>A (p.Arg169His)
c.317G>A (p.Arg106His)
c.383G>A (p.Arg128His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.80280217G>ACA5576779MAT1Ac.505C>T (p.Arg169Cys)
c.316C>T (p.Arg106Cys)
c.382C>T (p.Arg128Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80280217G>CCA377362673MAT1Ac.505C>G (p.Arg169Gly)
c.316C>G (p.Arg106Gly)
c.382C>G (p.Arg128Gly)
10g.80280217G=CA1922577878MAT1Ac.505C= (p.Arg169=)
c.316C= (p.Arg106=)
c.382C= (p.Arg128=)
10g.80280217G>TCA377362674MAT1Ac.505C>A (p.Arg169Ser)
c.316C>A (p.Arg106Ser)
c.382C>A (p.Arg128Ser)
 COSMIC
10g.80280218C>ACA377362675MAT1Ac.504G>T (p.Arg168Ser)
c.315G>T (p.Arg105Ser)
c.381G>T (p.Arg127Ser)
10g.80280218C>GCA377362676MAT1Ac.504G>C (p.Arg168Ser)
c.315G>C (p.Arg105Ser)
c.381G>C (p.Arg127Ser)
10g.80280218C>TCA470468239MAT1Ac.504G>A (p.Arg168=)
c.315G>A (p.Arg105=)
c.381G>A (p.Arg127=)
10g.80280219C>ACA377362677MAT1Ac.503G>T (p.Arg168Met)
c.314G>T (p.Arg105Met)
c.380G>T (p.Arg127Met)
10g.80280219C>GCA377362679MAT1Ac.503G>C (p.Arg168Thr)
c.314G>C (p.Arg105Thr)
c.380G>C (p.Arg127Thr)
10g.80280219C>TCA377362678MAT1Ac.503G>A (p.Arg168Lys)
c.314G>A (p.Arg105Lys)
c.380G>A (p.Arg127Lys)
10g.80280220T>ACA377362680MAT1Ac.502A>T (p.Arg168Trp)
c.313A>T (p.Arg105Trp)
c.379A>T (p.Arg127Trp)
10g.80280220T>CCA377362681MAT1Ac.502A>G (p.Arg168Gly)
c.313A>G (p.Arg105Gly)
c.379A>G (p.Arg127Gly)
10g.80280220T>GCA470468246MAT1Ac.502A>C (p.Arg168=)
c.313A>C (p.Arg105=)
c.379A>C (p.Arg127=)
10g.80280221G>ACA5576780MAT1Ac.501C>T (p.Leu167=)
c.312C>T (p.Leu104=)
c.378C>T (p.Leu126=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280221G>CCA470468249MAT1Ac.501C>G (p.Leu167=)
c.312C>G (p.Leu104=)
c.378C>G (p.Leu126=)
10g.80280221G=CA1922577880MAT1Ac.501C= (p.Leu167=)
c.312C= (p.Leu104=)
c.378C= (p.Leu126=)
10g.80280221G>TCA470468251MAT1Ac.501C>A (p.Leu167=)
c.312C>A (p.Leu104=)
c.378C>A (p.Leu126=)
10g.80280222A>CCA377362684MAT1Ac.500T>G (p.Leu167Arg)
c.311T>G (p.Leu104Arg)
c.377T>G (p.Leu126Arg)
 COSMIC
10g.80280222A>GCA377362682MAT1Ac.500T>C (p.Leu167Pro)
c.311T>C (p.Leu104Pro)
c.377T>C (p.Leu126Pro)
 gnomAD v4
10g.80280222A>TCA377362683MAT1Ac.500T>A (p.Leu167His)
c.311T>A (p.Leu104His)
c.377T>A (p.Leu126His)
10g.80280223G>ACA377362685MAT1Ac.499C>T (p.Leu167Phe)
c.310C>T (p.Leu104Phe)
c.376C>T (p.Leu126Phe)
10g.80280223G>CCA210326903MAT1Ac.499C>G (p.Leu167Val)
c.310C>G (p.Leu104Val)
c.376C>G (p.Leu126Val)
 dbSNP
10g.80280223G=CA1922577882MAT1Ac.499C= (p.Leu167=)
c.310C= (p.Leu104=)
c.376C= (p.Leu126=)
10g.80280223G>TCA377362686MAT1Ac.499C>A (p.Leu167Ile)
c.310C>A (p.Leu104Ile)
c.376C>A (p.Leu126Ile)
10g.80280224G>ACA470468261MAT1Ac.498C>T (p.Asp166=)
c.309C>T (p.Asp103=)
c.375C>T (p.Asp125=)
 gnomAD v4
10g.80280224G>CCA377362687MAT1Ac.498C>G (p.Asp166Glu)
c.309C>G (p.Asp103Glu)
c.375C>G (p.Asp125Glu)
10g.80280224G>TCA377362688MAT1Ac.498C>A (p.Asp166Glu)
c.309C>A (p.Asp103Glu)
c.375C>A (p.Asp125Glu)
10g.80280225T>ACA377362689MAT1Ac.497A>T (p.Asp166Val)
c.308A>T (p.Asp103Val)
c.374A>T (p.Asp125Val)
10g.80280225T>CCA377362690MAT1Ac.497A>G (p.Asp166Gly)
c.308A>G (p.Asp103Gly)
c.374A>G (p.Asp125Gly)
10g.80280225T>GCA377362691MAT1Ac.497A>C (p.Asp166Ala)
c.308A>C (p.Asp103Ala)
c.374A>C (p.Asp125Ala)
10g.80280226C>ACA377362692MAT1Ac.496G>T (p.Asp166Tyr)
c.307G>T (p.Asp103Tyr)
c.373G>T (p.Asp125Tyr)
10g.80280226C>GCA377362693MAT1Ac.496G>C (p.Asp166His)
c.307G>C (p.Asp103His)
c.373G>C (p.Asp125His)
10g.80280226C>TCA377362694MAT1Ac.496G>A (p.Asp166Asn)
c.307G>A (p.Asp103Asn)
c.373G>A (p.Asp125Asn)
 COSMIC
10g.80280227T>ACA470468277MAT1Ac.495A>T (p.Ala165=)
c.306A>T (p.Ala102=)
c.372A>T (p.Ala124=)
10g.80280227T>CCA470468283MAT1Ac.495A>G (p.Ala165=)
c.306A>G (p.Ala102=)
c.372A>G (p.Ala124=)
 dbSNP gnomAD v3 gnomAD v4
10g.80280227T>GCA470468280MAT1Ac.495A>C (p.Ala165=)
c.306A>C (p.Ala102=)
c.372A>C (p.Ala124=)
10g.80280227T=CA1922577884MAT1Ac.495A= (p.Ala165=)
c.306A= (p.Ala102=)
c.372A= (p.Ala124=)
10g.80280228G>ACA377362697MAT1Ac.494C>T (p.Ala165Val)
c.305C>T (p.Ala102Val)
c.371C>T (p.Ala124Val)
10g.80280228G>CCA377362696MAT1Ac.494C>G (p.Ala165Gly)
c.305C>G (p.Ala102Gly)
c.371C>G (p.Ala124Gly)
10g.80280228G>TCA377362695MAT1Ac.494C>A (p.Ala165Glu)
c.305C>A (p.Ala102Glu)
c.371C>A (p.Ala124Glu)
10g.80280229C>ACA377362698MAT1Ac.493G>T (p.Ala165Ser)
c.304G>T (p.Ala102Ser)
c.370G>T (p.Ala124Ser)
 COSMIC
10g.80280229C>GCA377362699MAT1Ac.493G>C (p.Ala165Pro)
c.304G>C (p.Ala102Pro)
c.370G>C (p.Ala124Pro)
10g.80280229C>TCA377362700MAT1Ac.493G>A (p.Ala165Thr)
c.304G>A (p.Ala102Thr)
c.370G>A (p.Ala124Thr)
10g.80280230C>ACA377362701MAT1Ac.492G>T (p.Met164Ile)
c.303G>T (p.Met101Ile)
c.369G>T (p.Met123Ile)
10g.80280230C=CA1922577886MAT1Ac.492G= (p.Met164=)
c.303G= (p.Met101=)
c.369G= (p.Met123=)
10g.80280230C>GCA377362702MAT1Ac.492G>C (p.Met164Ile)
c.303G>C (p.Met101Ile)
c.369G>C (p.Met123Ile)
10g.80280230C>TCA377362703MAT1Ac.492G>A (p.Met164Ile)
c.303G>A (p.Met101Ile)
c.369G>A (p.Met123Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280231A=CA1922577888MAT1Ac.491T= (p.Met164=)
c.302T= (p.Met101=)
c.368T= (p.Met123=)
10g.80280231A>CCA377362704MAT1Ac.491T>G (p.Met164Arg)
c.302T>G (p.Met101Arg)
c.368T>G (p.Met123Arg)
 dbSNP gnomAD v4
10g.80280231A>GCA377362705MAT1Ac.491T>C (p.Met164Thr)
c.302T>C (p.Met101Thr)
c.368T>C (p.Met123Thr)
10g.80280231A>TCA377362706MAT1Ac.491T>A (p.Met164Lys)
c.302T>A (p.Met101Lys)
c.368T>A (p.Met123Lys)
10g.80280232T>ACA377362707MAT1Ac.490A>T (p.Met164Leu)
c.301A>T (p.Met101Leu)
c.367A>T (p.Met123Leu)
10g.80280232T>CCA377362708MAT1Ac.490A>G (p.Met164Val)
c.301A>G (p.Met101Val)
c.367A>G (p.Met123Val)
10g.80280232T>GCA377362709MAT1Ac.490A>C (p.Met164Leu)
c.301A>C (p.Met101Leu)
c.367A>C (p.Met123Leu)
10g.80280233C>ACA210326909MAT1Ac.489G>T (p.Arg163=)
c.300G>T (p.Arg100=)
c.366G>T (p.Arg122=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280233C=CA1922577890MAT1Ac.489G= (p.Arg163=)
c.300G= (p.Arg100=)
c.366G= (p.Arg122=)
10g.80280233C>GCA470468325MAT1Ac.489G>C (p.Arg163=)
c.300G>C (p.Arg100=)
c.366G>C (p.Arg122=)
 dbSNP gnomAD v3 gnomAD v4
10g.80280233C>TCA470468322MAT1Ac.489G>A (p.Arg163=)
c.300G>A (p.Arg100=)
c.366G>A (p.Arg122=)
10g.80280234C>ACA377362711MAT1Ac.488G>T (p.Arg163Leu)
c.299G>T (p.Arg100Leu)
c.365G>T (p.Arg122Leu)
10g.80280234C=CA1922577893MAT1Ac.488G= (p.Arg163=)
c.299G= (p.Arg100=)
c.365G= (p.Arg122=)
10g.80280234C>GCA377362710MAT1Ac.488G>C (p.Arg163Pro)
c.299G>C (p.Arg100Pro)
c.365G>C (p.Arg122Pro)
10g.80280234C>TCA5576781MAT1Ac.488G>A (p.Arg163Gln)
c.299G>A (p.Arg100Gln)
c.365G>A (p.Arg122Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80280235G>ACA5576782MAT1Ac.487C>T (p.Arg163Trp)
c.298C>T (p.Arg100Trp)
c.364C>T (p.Arg122Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280235G>CCA377362712MAT1Ac.487C>G (p.Arg163Gly)
c.298C>G (p.Arg100Gly)
c.364C>G (p.Arg122Gly)
10g.80280235G=CA1922577896MAT1Ac.487C= (p.Arg163=)
c.298C= (p.Arg100=)
c.364C= (p.Arg122=)
10g.80280235G>TCA470468335MAT1Ac.487C>A (p.Arg163=)
c.298C>A (p.Arg100=)
c.364C>A (p.Arg122=)
10g.80280236G>ACA470468338MAT1Ac.486C>T (p.Ala162=)
c.297C>T (p.Ala99=)
c.363C>T (p.Ala121=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80280236G>CCA470468341MAT1Ac.486C>G (p.Ala162=)
c.297C>G (p.Ala99=)
c.363C>G (p.Ala121=)
10g.80280236G=CA1922577897MAT1Ac.486C= (p.Ala162=)
c.297C= (p.Ala99=)
c.363C= (p.Ala121=)
10g.80280236G>TCA470468343MAT1Ac.486C>A (p.Ala162=)
c.297C>A (p.Ala99=)
c.363C>A (p.Ala121=)
10g.80280237G>ACA5576783MAT1Ac.485C>T (p.Ala162Val)
c.296C>T (p.Ala99Val)
c.362C>T (p.Ala121Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280237G>CCA377362713MAT1Ac.485C>G (p.Ala162Gly)
c.296C>G (p.Ala99Gly)
c.362C>G (p.Ala121Gly)
 ClinVar
10g.80280237G=CA1922577900MAT1Ac.485C= (p.Ala162=)
c.296C= (p.Ala99=)
c.362C= (p.Ala121=)
10g.80280237G>TCA377362714MAT1Ac.485C>A (p.Ala162Asp)
c.296C>A (p.Ala99Asp)
c.362C>A (p.Ala121Asp)
10g.80280238C>ACA377362717MAT1Ac.484G>T (p.Ala162Ser)
c.295G>T (p.Ala99Ser)
c.361G>T (p.Ala121Ser)
10g.80280238C=CA1922577902MAT1Ac.484G= (p.Ala162=)
c.295G= (p.Ala99=)
c.361G= (p.Ala121=)
10g.80280238C>GCA377362716MAT1Ac.484G>C (p.Ala162Pro)
c.295G>C (p.Ala99Pro)
c.361G>C (p.Ala121Pro)
10g.80280238C>TCA377362715MAT1Ac.484G>A (p.Ala162Thr)
c.295G>A (p.Ala99Thr)
c.361G>A (p.Ala121Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280239G>ACA5576784MAT1Ac.483C>T (p.Asn161=)
c.294C>T (p.Asn98=)
c.360C>T (p.Asn120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280239G>CCA377362718MAT1Ac.483C>G (p.Asn161Lys)
c.294C>G (p.Asn98Lys)
c.360C>G (p.Asn120Lys)
10g.80280239G=CA1922577905MAT1Ac.483C= (p.Asn161=)
c.294C= (p.Asn98=)
c.360C= (p.Asn120=)
10g.80280239G>TCA377362719MAT1Ac.483C>A (p.Asn161Lys)
c.294C>A (p.Asn98Lys)
c.360C>A (p.Asn120Lys)
10g.80280240T>ACA377362720MAT1Ac.482A>T (p.Asn161Ile)
c.293A>T (p.Asn98Ile)
c.359A>T (p.Asn120Ile)
10g.80280240T>CCA377362721MAT1Ac.482A>G (p.Asn161Ser)
c.293A>G (p.Asn98Ser)
c.359A>G (p.Asn120Ser)
10g.80280240T>GCA377362722MAT1Ac.482A>C (p.Asn161Thr)
c.293A>C (p.Asn98Thr)
c.359A>C (p.Asn120Thr)
10g.80280241T>ACA377362723MAT1Ac.481A>T (p.Asn161Tyr)
c.292A>T (p.Asn98Tyr)
c.358A>T (p.Asn120Tyr)
10g.80280241T>CCA377362725MAT1Ac.481A>G (p.Asn161Asp)
c.292A>G (p.Asn98Asp)
c.358A>G (p.Asn120Asp)
10g.80280241T>GCA377362724MAT1Ac.481A>C (p.Asn161His)
c.292A>C (p.Asn98His)
c.358A>C (p.Asn120His)
 gnomAD v4
10g.80280242G>ACA470468367MAT1Ac.480C>T (p.Leu160=)
c.291C>T (p.Leu97=)
c.357C>T (p.Leu119=)
 gnomAD v4
10g.80280242G>CCA470468370MAT1Ac.480C>G (p.Leu160=)
c.291C>G (p.Leu97=)
c.357C>G (p.Leu119=)
 dbSNP gnomAD v3 gnomAD v4
10g.80280242G>TCA470468373MAT1Ac.480C>A (p.Leu160=)
c.291C>A (p.Leu97=)
c.357C>A (p.Leu119=)
10g.80280243A>CCA377362726MAT1Ac.479T>G (p.Leu160Arg)
c.290T>G (p.Leu97Arg)
c.356T>G (p.Leu119Arg)
10g.80280243A>GCA377362727MAT1Ac.479T>C (p.Leu160Pro)
c.290T>C (p.Leu97Pro)
c.356T>C (p.Leu119Pro)
10g.80280243A>TCA377362728MAT1Ac.479T>A (p.Leu160His)
c.290T>A (p.Leu97His)
c.356T>A (p.Leu119His)
10g.80280244G>ACA377362729MAT1Ac.478C>T (p.Leu160Phe)
c.289C>T (p.Leu97Phe)
c.355C>T (p.Leu119Phe)
 gnomAD v4 COSMIC
10g.80280244G>CCA377362730MAT1Ac.478C>G (p.Leu160Val)
c.289C>G (p.Leu97Val)
c.355C>G (p.Leu119Val)
10g.80280244G>TCA377362731MAT1Ac.478C>A (p.Leu160Ile)
c.289C>A (p.Leu97Ile)
c.355C>A (p.Leu119Ile)
10g.80280245C>ACA377362732MAT1Ac.477G>T (p.Lys159Asn)
c.288G>T (p.Lys96Asn)
c.354G>T (p.Lys118Asn)
10g.80280245C>GCA377362733MAT1Ac.477G>C (p.Lys159Asn)
c.288G>C (p.Lys96Asn)
c.354G>C (p.Lys118Asn)
10g.80280245C>TCA470468390MAT1Ac.477G>A (p.Lys159=)
c.288G>A (p.Lys96=)
c.354G>A (p.Lys118=)
10g.80280246T>ACA377362734MAT1Ac.476A>T (p.Lys159Met)
c.287A>T (p.Lys96Met)
c.353A>T (p.Lys118Met)
10g.80280246T>CCA377362735MAT1Ac.476A>G (p.Lys159Arg)
c.287A>G (p.Lys96Arg)
c.353A>G (p.Lys118Arg)
10g.80280246T>GCA377362736MAT1Ac.476A>C (p.Lys159Thr)
c.287A>C (p.Lys96Thr)
c.353A>C (p.Lys118Thr)
10g.80280247T>ACA377362737MAT1Ac.475A>T (p.Lys159Ter)
c.286A>T (p.Lys96Ter)
c.352A>T (p.Lys118Ter)
10g.80280247T>CCA377362739MAT1Ac.475A>G (p.Lys159Glu)
c.286A>G (p.Lys96Glu)
c.352A>G (p.Lys118Glu)
10g.80280247T>GCA377362738MAT1Ac.475A>C (p.Lys159Gln)
c.286A>C (p.Lys96Gln)
c.352A>C (p.Lys118Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280247T=CA1922577907MAT1Ac.475A= (p.Lys159=)
c.286A= (p.Lys96=)
c.352A= (p.Lys118=)
10g.80280248G>ACA470468403MAT1Ac.474C>T (p.His158=)
c.285C>T (p.His95=)
c.351C>T (p.His117=)
 dbSNP gnomAD v4
10g.80280248G>CCA377362740MAT1Ac.474C>G (p.His158Gln)
c.285C>G (p.His95Gln)
c.351C>G (p.His117Gln)
 dbSNP gnomAD v3 gnomAD v4
10g.80280248G=CA1922577910MAT1Ac.474C= (p.His158=)
c.285C= (p.His95=)
c.351C= (p.His117=)
10g.80280248G>TCA377362741MAT1Ac.474C>A (p.His158Gln)
c.285C>A (p.His95Gln)
c.351C>A (p.His117Gln)
10g.80280249T>ACA377362742MAT1Ac.473A>T (p.His158Leu)
c.284A>T (p.His95Leu)
c.350A>T (p.His117Leu)
10g.80280249T>CCA377362743MAT1Ac.473A>G (p.His158Arg)
c.284A>G (p.His95Arg)
c.350A>G (p.His117Arg)
10g.80280249T>GCA377362744MAT1Ac.473A>C (p.His158Pro)
c.284A>C (p.His95Pro)
c.350A>C (p.His117Pro)
 dbSNP
10g.80280249T=CA1922577911MAT1Ac.473A= (p.His158=)
c.284A= (p.His95=)
c.350A= (p.His117=)
10g.80280250G>ACA377362745MAT1Ac.472C>T (p.His158Tyr)
c.283C>T (p.His95Tyr)
c.349C>T (p.His117Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280250G>CCA377362746MAT1Ac.472C>G (p.His158Asp)
c.283C>G (p.His95Asp)
c.349C>G (p.His117Asp)
10g.80280250G=CA1922577913MAT1Ac.472C= (p.His158=)
c.283C= (p.His95=)
c.349C= (p.His117=)
10g.80280250G>TCA377362747MAT1Ac.472C>A (p.His158Asn)
c.283C>A (p.His95Asn)
c.349C>A (p.His117Asn)
10g.80280251A>CCA470468421MAT1Ac.471T>G (p.Ala157=)
c.282T>G (p.Ala94=)
c.348T>G (p.Ala116=)
10g.80280251A>GCA470468422MAT1Ac.471T>C (p.Ala157=)
c.282T>C (p.Ala94=)
c.348T>C (p.Ala116=)
10g.80280251A>TCA470468426MAT1Ac.471T>A (p.Ala157=)
c.282T>A (p.Ala94=)
c.348T>A (p.Ala116=)
10g.80280252G>ACA377362748MAT1Ac.470C>T (p.Ala157Val)
c.281C>T (p.Ala94Val)
c.347C>T (p.Ala116Val)
 ClinVar
10g.80280252G>CCA377362749MAT1Ac.470C>G (p.Ala157Gly)
c.281C>G (p.Ala94Gly)
c.347C>G (p.Ala116Gly)
 gnomAD v4
10g.80280252G>TCA377362750MAT1Ac.470C>A (p.Ala157Asp)
c.281C>A (p.Ala94Asp)
c.347C>A (p.Ala116Asp)
10g.80280253C>ACA377362751MAT1Ac.469G>T (p.Ala157Ser)
c.280G>T (p.Ala94Ser)
c.346G>T (p.Ala116Ser)
10g.80280253C>GCA377362752MAT1Ac.469G>C (p.Ala157Pro)
c.280G>C (p.Ala94Pro)
c.346G>C (p.Ala116Pro)
10g.80280253C>TCA377362753MAT1Ac.469G>A (p.Ala157Thr)
c.280G>A (p.Ala94Thr)
c.346G>A (p.Ala116Thr)
10g.80280254A=CA1922577914MAT1Ac.468T= (p.Leu156=)
c.279T= (p.Leu93=)
c.345T= (p.Leu115=)
10g.80280254A>CCA470468438MAT1Ac.468T>G (p.Leu156=)
c.279T>G (p.Leu93=)
c.345T>G (p.Leu115=)
10g.80280254A>GCA470468441MAT1Ac.468T>C (p.Leu156=)
c.279T>C (p.Leu93=)
c.345T>C (p.Leu115=)
 dbSNP gnomAD v2
10g.80280254A>TCA470468443MAT1Ac.468T>A (p.Leu156=)
c.279T>A (p.Leu93=)
c.345T>A (p.Leu115=)
10g.80280255A>CCA377362756MAT1Ac.467T>G (p.Leu156Arg)
c.278T>G (p.Leu93Arg)
c.344T>G (p.Leu115Arg)
10g.80280255A>GCA377362754MAT1Ac.467T>C (p.Leu156Pro)
c.278T>C (p.Leu93Pro)
c.344T>C (p.Leu115Pro)
10g.80280255A>TCA377362755MAT1Ac.467T>A (p.Leu156His)
c.278T>A (p.Leu93His)
c.344T>A (p.Leu115His)
10g.80280256G>ACA377362757MAT1Ac.466C>T (p.Leu156Phe)
c.277C>T (p.Leu93Phe)
c.343C>T (p.Leu115Phe)
10g.80280256G>CCA377362758MAT1Ac.466C>G (p.Leu156Val)
c.277C>G (p.Leu93Val)
c.343C>G (p.Leu115Val)
10g.80280256G>TCA377362759MAT1Ac.466C>A (p.Leu156Ile)
c.277C>A (p.Leu93Ile)
c.343C>A (p.Leu115Ile)
10g.80280257G>ACA470468455MAT1Ac.465C>T (p.Ile155=)
c.276C>T (p.Ile92=)
c.342C>T (p.Ile114=)
10g.80280257G>CCA377362760MAT1Ac.465C>G (p.Ile155Met)
c.276C>G (p.Ile92Met)
c.342C>G (p.Ile114Met)
10g.80280257G>TCA470468459MAT1Ac.465C>A (p.Ile155=)
c.276C>A (p.Ile92=)
c.342C>A (p.Ile114=)
10g.80280258A>CCA377362761MAT1Ac.464T>G (p.Ile155Ser)
c.275T>G (p.Ile92Ser)
c.341T>G (p.Ile114Ser)
10g.80280258A>GCA377362762MAT1Ac.464T>C (p.Ile155Thr)
c.275T>C (p.Ile92Thr)
c.341T>C (p.Ile114Thr)
10g.80280258A>TCA377362763MAT1Ac.464T>A (p.Ile155Asn)
c.275T>A (p.Ile92Asn)
c.341T>A (p.Ile114Asn)
10g.80280261_80280275delCA2609913838MAT1Ac.450_464del (p.Met150_Ile154del)
c.261_275del (p.Met87_Ile91del)
c.327_341del (p.Met109_Ile113del)
 gnomAD v4
10g.80280259T>ACA377362764MAT1Ac.463A>T (p.Ile155Phe)
c.274A>T (p.Ile92Phe)
c.340A>T (p.Ile114Phe)
10g.80280259T>CCA377362765MAT1Ac.463A>G (p.Ile155Val)
c.274A>G (p.Ile92Val)
c.340A>G (p.Ile114Val)
10g.80280259T>GCA377362766MAT1Ac.463A>C (p.Ile155Leu)
c.274A>C (p.Ile92Leu)
c.340A>C (p.Ile114Leu)
10g.80280260G>ACA470468472MAT1Ac.462C>T (p.Ile154=)
c.273C>T (p.Ile91=)
c.339C>T (p.Ile113=)
10g.80280260G>CCA377362767MAT1Ac.462C>G (p.Ile154Met)
c.273C>G (p.Ile91Met)
c.339C>G (p.Ile113Met)
10g.80280260G>TCA470468476MAT1Ac.462C>A (p.Ile154=)
c.273C>A (p.Ile91=)
c.339C>A (p.Ile113=)
 dbSNP
10g.80280261A>CCA377362770MAT1Ac.461T>G (p.Ile154Ser)
c.272T>G (p.Ile91Ser)
c.338T>G (p.Ile113Ser)
 gnomAD v4
10g.80280261A>GCA377362769MAT1Ac.461T>C (p.Ile154Thr)
c.272T>C (p.Ile91Thr)
c.338T>C (p.Ile113Thr)
 dbSNP
10g.80280261A>TCA377362768MAT1Ac.461T>A (p.Ile154Asn)
c.272T>A (p.Ile91Asn)
c.338T>A (p.Ile113Asn)
10g.80280262T>ACA377362771MAT1Ac.460A>T (p.Ile154Phe)
c.271A>T (p.Ile91Phe)
c.337A>T (p.Ile113Phe)
10g.80280262T>CCA5576785MAT1Ac.460A>G (p.Ile154Val)
c.271A>G (p.Ile91Val)
c.337A>G (p.Ile113Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280262T>GCA377362772MAT1Ac.460A>C (p.Ile154Leu)
c.271A>C (p.Ile91Leu)
c.337A>C (p.Ile113Leu)
10g.80280262T=CA1922577916MAT1Ac.460A= (p.Ile154=)
c.271A= (p.Ile91=)
c.337A= (p.Ile113=)
10g.80280263G>ACA470468491MAT1Ac.459C>T (p.Thr153=)
c.270C>T (p.Thr90=)
c.336C>T (p.Thr112=)
 gnomAD v4
10g.80280263G>CCA470468493MAT1Ac.459C>G (p.Thr153=)
c.270C>G (p.Thr90=)
c.336C>G (p.Thr112=)
10g.80280263G>TCA470468496MAT1Ac.459C>A (p.Thr153=)
c.270C>A (p.Thr90=)
c.336C>A (p.Thr112=)
10g.80280264G>ACA377362773MAT1Ac.458C>T (p.Thr153Ile)
c.269C>T (p.Thr90Ile)
c.335C>T (p.Thr112Ile)
10g.80280264G>CCA377362774MAT1Ac.458C>G (p.Thr153Ser)
c.269C>G (p.Thr90Ser)
c.335C>G (p.Thr112Ser)
10g.80280264G=CA1922577917MAT1Ac.458C= (p.Thr153=)
c.269C= (p.Thr90=)
c.335C= (p.Thr112=)
10g.80280264G>TCA377362775MAT1Ac.458C>A (p.Thr153Asn)
c.269C>A (p.Thr90Asn)
c.335C>A (p.Thr112Asn)
10g.80280265T>ACA377362776MAT1Ac.457A>T (p.Thr153Ser)
c.268A>T (p.Thr90Ser)
c.334A>T (p.Thr112Ser)
10g.80280265T>CCA377362777MAT1Ac.457A>G (p.Thr153Ala)
c.268A>G (p.Thr90Ala)
c.334A>G (p.Thr112Ala)
10g.80280265T>GCA377362778MAT1Ac.457A>C (p.Thr153Pro)
c.268A>C (p.Thr90Pro)
c.334A>C (p.Thr112Pro)
10g.80280265dupCA594462499MAT1Ac.457dup (p.Thr153AsnfsTer27)
c.268dup (p.Thr90AsnfsTer27)
c.334dup (p.Thr112AsnfsTer27)
 dbSNP gnomAD v2
10g.80280266G>ACA470468510MAT1Ac.456C>T (p.Leu152=)
c.267C>T (p.Leu89=)
c.333C>T (p.Leu111=)
10g.80280266G>CCA470468513MAT1Ac.456C>G (p.Leu152=)
c.267C>G (p.Leu89=)
c.333C>G (p.Leu111=)
10g.80280266G>TCA470468516MAT1Ac.456C>A (p.Leu152=)
c.267C>A (p.Leu89=)
c.333C>A (p.Leu111=)
10g.80280267A>CCA377362779MAT1Ac.455T>G (p.Leu152Arg)
c.266T>G (p.Leu89Arg)
c.332T>G (p.Leu111Arg)
10g.80280267A>GCA377362780MAT1Ac.455T>C (p.Leu152Pro)
c.266T>C (p.Leu89Pro)
c.332T>C (p.Leu111Pro)
10g.80280267A>TCA377362781MAT1Ac.455T>A (p.Leu152His)
c.266T>A (p.Leu89His)
c.332T>A (p.Leu111His)
10g.80280268G>ACA377362784MAT1Ac.454C>T (p.Leu152Phe)
c.265C>T (p.Leu89Phe)
c.331C>T (p.Leu111Phe)
10g.80280268G>CCA377362782MAT1Ac.454C>G (p.Leu152Val)
c.265C>G (p.Leu89Val)
c.331C>G (p.Leu111Val)
10g.80280268G>TCA377362783MAT1Ac.454C>A (p.Leu152Ile)
c.265C>A (p.Leu89Ile)
c.331C>A (p.Leu111Ile)
10g.80280269G>ACA470468531MAT1Ac.453C>T (p.Pro151=)
c.264C>T (p.Pro88=)
c.330C>T (p.Pro110=)
 dbSNP gnomAD v2 gnomAD v4
10g.80280269G>CCA470468534MAT1Ac.453C>G (p.Pro151=)
c.264C>G (p.Pro88=)
c.330C>G (p.Pro110=)
 dbSNP gnomAD v2
10g.80280269G=CA1922577919MAT1Ac.453C= (p.Pro151=)
c.264C= (p.Pro88=)
c.330C= (p.Pro110=)
10g.80280269G>TCA470468528MAT1Ac.453C>A (p.Pro151=)
c.264C>A (p.Pro88=)
c.330C>A (p.Pro110=)
10g.80280270G>ACA377362785MAT1Ac.452C>T (p.Pro151Leu)
c.263C>T (p.Pro88Leu)
c.329C>T (p.Pro110Leu)
 ClinVar dbSNP gnomAD v4
10g.80280270G>CCA377362786MAT1Ac.452C>G (p.Pro151Arg)
c.263C>G (p.Pro88Arg)
c.329C>G (p.Pro110Arg)
 dbSNP
10g.80280270G=CA1922577922MAT1Ac.452C= (p.Pro151=)
c.263C= (p.Pro88=)
c.329C= (p.Pro110=)
10g.80280270G>TCA377362787MAT1Ac.452C>A (p.Pro151His)
c.263C>A (p.Pro88His)
c.329C>A (p.Pro110His)
10g.80280271G>ACA377362788MAT1Ac.451C>T (p.Pro151Ser)
c.262C>T (p.Pro88Ser)
c.328C>T (p.Pro110Ser)
10g.80280271G>CCA377362789MAT1Ac.451C>G (p.Pro151Ala)
c.262C>G (p.Pro88Ala)
c.328C>G (p.Pro110Ala)
10g.80280271G>TCA377362790MAT1Ac.451C>A (p.Pro151Thr)
c.262C>A (p.Pro88Thr)
c.328C>A (p.Pro110Thr)
 ClinVar
10g.80280272C>ACA377362791MAT1Ac.450G>T (p.Met150Ile)
c.261G>T (p.Met87Ile)
c.327G>T (p.Met109Ile)
10g.80280272C>GCA377362792MAT1Ac.450G>C (p.Met150Ile)
c.261G>C (p.Met87Ile)
c.327G>C (p.Met109Ile)
10g.80280272C>TCA377362793MAT1Ac.450G>A (p.Met150Ile)
c.261G>A (p.Met87Ile)
c.327G>A (p.Met109Ile)
10g.80280273A>CCA377362794MAT1Ac.449T>G (p.Met150Arg)
c.260T>G (p.Met87Arg)
c.326T>G (p.Met109Arg)
10g.80280273A>GCA377362795MAT1Ac.449T>C (p.Met150Thr)
c.260T>C (p.Met87Thr)
c.326T>C (p.Met109Thr)
10g.80280273A>TCA377362796MAT1Ac.449T>A (p.Met150Lys)
c.260T>A (p.Met87Lys)
c.326T>A (p.Met109Lys)

Number of alleles fetched