Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80276357T>ACA2609913666MAT1Ac.768+19A>T (n.768+19A>T)
c.645+19A>T (n.645+19A>T)
 gnomAD v4
10g.80276359C>TCA2609913667MAT1Ac.768+17G>A (n.768+17G>A)
c.645+17G>A (n.645+17G>A)
 gnomAD v4
10g.80276360A>CCA2788703110MAT1Ac.768+16T>G (n.768+16T>G)
c.645+16T>G (n.645+16T>G)
10g.80276363_80276364delCA2574455612MAT1Ac.768+15_768+16del (n.768+15_768+16del)
c.645+15_645+16del (n.645+15_645+16del)
10g.80276361G>ACA2574455614MAT1Ac.768+15C>T (n.768+15C>T)
c.645+15C>T (n.645+15C>T)
10g.80276361_80276366delinsGAGACACA1922574457MAT1Ac.768+10_768+15delinsTGTCTC (n.768+10_768+15delinsTGTCTC)
c.645+10_645+15delinsTGTCTC (n.645+10_645+15delinsTGTCTC)
10g.80276362A>TCA2609913668MAT1Ac.768+14T>A (n.768+14T>A)
c.645+14T>A (n.645+14T>A)
 gnomAD v4
10g.80276365_80276369delCA594711875MAT1Ac.768+10_768+14del (n.768+10_768+14del)
c.645+10_645+14del (n.645+10_645+14del)
 dbSNP gnomAD v2
10g.80276363G>ACA5576715MAT1Ac.768+13C>T (n.768+13C>T)
c.645+13C>T (n.645+13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276363G=CA1922574461MAT1Ac.768+13C= (n.768+13C=)
c.645+13C= (n.645+13C=)
10g.80276364A>CCA2609913669MAT1Ac.768+12T>G (n.768+12T>G)
c.645+12T>G (n.645+12T>G)
 gnomAD v4
10g.80276366A>CCA2580082045MAT1Ac.768+10T>G (n.768+10T>G)
c.645+10T>G (n.645+10T>G)
 ClinVar
10g.80276368G>ACA210323613MAT1Ac.768+8C>T (n.768+8C>T)
c.645+8C>T (n.645+8C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.80276368G>CCA1922574465MAT1Ac.768+8C>G (n.768+8C>G)
c.645+8C>G (n.645+8C>G)
 dbSNP
10g.80276368G=CA1922574463MAT1Ac.768+8C= (n.768+8C=)
c.645+8C= (n.645+8C=)
10g.80276368G>TCA5576716MAT1Ac.768+8C>A (n.768+8C>A)
c.645+8C>A (n.645+8C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276370A>GCA2609913670MAT1Ac.768+6T>C (n.768+6T>C)
c.645+6T>C (n.645+6T>C)
 gnomAD v4
10g.80276373C>ACA2609913671MAT1Ac.768+3G>T (n.768+3G>T)
c.645+3G>T (n.645+3G>T)
 gnomAD v4
10g.80276373C=CA1922574467MAT1Ac.768+3G= (n.768+3G=)
c.645+3G= (n.645+3G=)
10g.80276373C>GCA2574455620MAT1Ac.768+3G>C (n.768+3G>C)
c.645+3G>C (n.645+3G>C)
10g.80276373C>TCA594711876MAT1Ac.768+3G>A (n.768+3G>A)
c.645+3G>A (n.645+3G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80276374A>CCA377361480MAT1Ac.768+2T>G (n.768+2T>G)
c.645+2T>G (n.645+2T>G)
10g.80276374A>GCA377361476MAT1Ac.768+2T>C (n.768+2T>C)
c.645+2T>C (n.645+2T>C)
10g.80276374A>TCA377361479MAT1Ac.768+2T>A (n.768+2T>A)
c.645+2T>A (n.645+2T>A)
 ClinVar
10g.80276375C>ACA377361484MAT1Ac.768+1G>T (n.768+1G>T)
c.645+1G>T (n.645+1G>T)
 dbSNP gnomAD v4
10g.80276375C=CA1922574469MAT1Ac.768+1G= (n.768+1G=)
c.645+1G= (n.645+1G=)
10g.80276375C>GCA377361487MAT1Ac.768+1G>C (n.768+1G>C)
c.645+1G>C (n.645+1G>C)
10g.80276375C>TCA377361489MAT1Ac.768+1G>A (n.768+1G>A)
c.645+1G>A (n.645+1G>A)
10g.80276376C>ACA377361492MAT1Ac.768G>T (p.Gln256His)
c.645G>T (p.Gln215His)
10g.80276376C>GCA377361494MAT1Ac.768G>C (p.Gln256His)
c.645G>C (p.Gln215His)
10g.80276376C>TCA470467425MAT1Ac.768G>A (p.Gln256=)
c.645G>A (p.Gln215=)
10g.80276376_80276379delCA2739291352MAT1Ac.765_768del (p.Gln256GlyfsTer?)
c.642_645del (p.Gln215GlyfsTer?)
10g.80276377T>ACA377361497MAT1Ac.767A>T (p.Gln256Leu)
c.644A>T (p.Gln215Leu)
10g.80276377T>CCA377361498MAT1Ac.767A>G (p.Gln256Arg)
c.644A>G (p.Gln215Arg)
 dbSNP
10g.80276377T>GCA377361500MAT1Ac.767A>C (p.Gln256Pro)
c.644A>C (p.Gln215Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.80276377T=CA1922574471MAT1Ac.767A= (p.Gln256=)
c.644A= (p.Gln215=)
10g.80276378G>ACA377361503MAT1Ac.766C>T (p.Gln256Ter)
c.643C>T (p.Gln215Ter)
10g.80276378G>CCA377361516MAT1Ac.766C>G (p.Gln256Glu)
c.643C>G (p.Gln215Glu)
10g.80276378G>TCA377361519MAT1Ac.766C>A (p.Gln256Lys)
c.643C>A (p.Gln215Lys)
10g.80276379G>ACA5576717MAT1Ac.765C>T (p.Pro255=)
c.642C>T (p.Pro214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276379G>CCA470467426MAT1Ac.765C>G (p.Pro255=)
c.642C>G (p.Pro214=)
10g.80276379G=CA1922574473MAT1Ac.765C= (p.Pro255=)
c.642C= (p.Pro214=)
10g.80276379G>TCA470467427MAT1Ac.765C>A (p.Pro255=)
c.642C>A (p.Pro214=)
10g.80276380G>ACA377361527MAT1Ac.764C>T (p.Pro255Leu)
c.641C>T (p.Pro214Leu)
10g.80276380G>CCA377361529MAT1Ac.764C>G (p.Pro255Arg)
c.641C>G (p.Pro214Arg)
10g.80276380G>TCA377361523MAT1Ac.764C>A (p.Pro255His)
c.641C>A (p.Pro214His)
10g.80276380_80276382delinsGGACA1922574476MAT1Ac.762_764delinsTCC (p.Gly254=)
c.639_641delinsTCC (p.Gly213=)
10g.80276381G>ACA16605940MAT1Ac.763C>T (p.Pro255Ser)
c.640C>T (p.Pro214Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80276381G>CCA377361534MAT1Ac.763C>G (p.Pro255Ala)
c.640C>G (p.Pro214Ala)
10g.80276381G=CA1922574481MAT1Ac.763C= (p.Pro255=)
c.640C= (p.Pro214=)
10g.80276381G>TCA377361535MAT1Ac.763C>A (p.Pro255Thr)
c.640C>A (p.Pro214Thr)
10g.80276381_80276382delCA668886214MAT1Ac.762_763del (p.Gln256GlyfsTer9)
c.639_640del (p.Gln215GlyfsTer9)
 dbSNP
10g.80276382A>CCA470467428MAT1Ac.762T>G (p.Gly254=)
c.639T>G (p.Gly213=)
10g.80276382A>GCA470467429MAT1Ac.762T>C (p.Gly254=)
c.639T>C (p.Gly213=)
 gnomAD v4
10g.80276382A>TCA470467430MAT1Ac.762T>A (p.Gly254=)
c.639T>A (p.Gly213=)
10g.80276383C>ACA377361539MAT1Ac.761G>T (p.Gly254Val)
c.638G>T (p.Gly213Val)
10g.80276383C>GCA377361541MAT1Ac.761G>C (p.Gly254Ala)
c.638G>C (p.Gly213Ala)
10g.80276383C>TCA377361544MAT1Ac.761G>A (p.Gly254Asp)
c.638G>A (p.Gly213Asp)
 gnomAD v4
10g.80276384C>ACA377361555MAT1Ac.760G>T (p.Gly254Cys)
c.637G>T (p.Gly213Cys)
10g.80276384C=CA1922574487MAT1Ac.760G= (p.Gly254=)
c.637G= (p.Gly213=)
10g.80276384C>GCA377361556MAT1Ac.760G>C (p.Gly254Arg)
c.637G>C (p.Gly213Arg)
10g.80276384C>TCA377361560MAT1Ac.760G>A (p.Gly254Ser)
c.637G>A (p.Gly213Ser)
 ClinVar dbSNP
10g.80276385T>ACA470467431MAT1Ac.759A>T (p.Gly253=)
c.636A>T (p.Gly212=)
10g.80276385T>CCA470467432MAT1Ac.759A>G (p.Gly253=)
c.636A>G (p.Gly212=)
10g.80276385T>GCA470467433MAT1Ac.759A>C (p.Gly253=)
c.636A>C (p.Gly212=)
10g.80276386C>ACA377361564MAT1Ac.758G>T (p.Gly253Val)
c.635G>T (p.Gly212Val)
10g.80276386C>GCA377361565MAT1Ac.758G>C (p.Gly253Ala)
c.635G>C (p.Gly212Ala)
10g.80276386C>TCA377361568MAT1Ac.758G>A (p.Gly253Glu)
c.635G>A (p.Gly212Glu)
10g.80276387C>ACA377361577MAT1Ac.757G>T (p.Gly253Ter)
c.634G>T (p.Gly212Ter)
 COSMIC
10g.80276387C=CA1922574490MAT1Ac.757G= (p.Gly253=)
c.634G= (p.Gly212=)
10g.80276387C>GCA377361575MAT1Ac.757G>C (p.Gly253Arg)
c.634G>C (p.Gly212Arg)
10g.80276387C>TCA377361573MAT1Ac.757G>A (p.Gly253Arg)
c.634G>A (p.Gly212Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.80276388G>ACA5576719MAT1Ac.756C>T (p.Ile252=)
c.633C>T (p.Ile211=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80276388G>CCA377361582MAT1Ac.756C>G (p.Ile252Met)
c.633C>G (p.Ile211Met)
10g.80276388G=CA1922574492MAT1Ac.756C= (p.Ile252=)
c.633C= (p.Ile211=)
10g.80276388G>TCA5576718MAT1Ac.756C>A (p.Ile252=)
c.633C>A (p.Ile211=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276389A=CA1922574494MAT1Ac.755T= (p.Ile252=)
c.632T= (p.Ile211=)
10g.80276389A>CCA377361585MAT1Ac.755T>G (p.Ile252Ser)
c.632T>G (p.Ile211Ser)
10g.80276389A>GCA377361587MAT1Ac.755T>C (p.Ile252Thr)
c.632T>C (p.Ile211Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80276389A>TCA377361589MAT1Ac.755T>A (p.Ile252Asn)
c.632T>A (p.Ile211Asn)
10g.80276390T>ACA5576720MAT1Ac.754A>T (p.Ile252Phe)
c.631A>T (p.Ile211Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276390T>CCA377361593MAT1Ac.754A>G (p.Ile252Val)
c.631A>G (p.Ile211Val)
 gnomAD v4
10g.80276390T>GCA377361597MAT1Ac.754A>C (p.Ile252Leu)
c.631A>C (p.Ile211Leu)
10g.80276390T=CA1922574497MAT1Ac.754A= (p.Ile252=)
c.631A= (p.Ile211=)
10g.80276391G>ACA5576721MAT1Ac.753C>T (p.Val251=)
c.630C>T (p.Val210=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276391G>CCA470467434MAT1Ac.753C>G (p.Val251=)
c.630C>G (p.Val210=)
10g.80276391G=CA1922574499MAT1Ac.753C= (p.Val251=)
c.630C= (p.Val210=)
10g.80276391G>TCA470467435MAT1Ac.753C>A (p.Val251=)
c.630C>A (p.Val210=)
 gnomAD v4
10g.80276392A=CA1922574500MAT1Ac.752T= (p.Val251=)
c.629T= (p.Val210=)
10g.80276392A>CCA377361602MAT1Ac.752T>G (p.Val251Gly)
c.629T>G (p.Val210Gly)
10g.80276392A>GCA377361604MAT1Ac.752T>C (p.Val251Ala)
c.629T>C (p.Val210Ala)
10g.80276392A>TCA377361606MAT1Ac.752T>A (p.Val251Asp)
c.629T>A (p.Val210Asp)
 dbSNP
10g.80276393C>ACA377361613MAT1Ac.751G>T (p.Val251Phe)
c.628G>T (p.Val210Phe)
10g.80276393C>GCA377361615MAT1Ac.751G>C (p.Val251Leu)
c.628G>C (p.Val210Leu)
10g.80276393C>TCA377361610MAT1Ac.751G>A (p.Val251Ile)
c.628G>A (p.Val210Ile)
 gnomAD v4
10g.80276394A>CCA377361618MAT1Ac.750T>G (p.Phe250Leu)
c.627T>G (p.Phe209Leu)
10g.80276394A>GCA470467436MAT1Ac.750T>C (p.Phe250=)
c.627T>C (p.Phe209=)
10g.80276394A>TCA377361624MAT1Ac.750T>A (p.Phe250Leu)
c.627T>A (p.Phe209Leu)
10g.80276395A>CCA377361626MAT1Ac.749T>G (p.Phe250Cys)
c.626T>G (p.Phe209Cys)
10g.80276395A>GCA377361627MAT1Ac.749T>C (p.Phe250Ser)
c.626T>C (p.Phe209Ser)
10g.80276395A>TCA377361630MAT1Ac.749T>A (p.Phe250Tyr)
c.626T>A (p.Phe209Tyr)
10g.80276396A>CCA377361632MAT1Ac.748T>G (p.Phe250Val)
c.625T>G (p.Phe209Val)
10g.80276396A>GCA377361634MAT1Ac.748T>C (p.Phe250Leu)
c.625T>C (p.Phe209Leu)
 COSMIC
10g.80276396A>TCA377361637MAT1Ac.748T>A (p.Phe250Ile)
c.625T>A (p.Phe209Ile)
10g.80276397C>ACA470467439MAT1Ac.747G>T (p.Arg249=)
c.624G>T (p.Arg208=)
 gnomAD v4
10g.80276397C>GCA470467438MAT1Ac.747G>C (p.Arg249=)
c.624G>C (p.Arg208=)
10g.80276397C>TCA470467437MAT1Ac.747G>A (p.Arg249=)
c.624G>A (p.Arg208=)
 gnomAD v4
10g.80276398C>ACA377361639MAT1Ac.746G>T (p.Arg249Leu)
c.623G>T (p.Arg208Leu)
10g.80276398C=CA1922574502MAT1Ac.746G= (p.Arg249=)
c.623G= (p.Arg208=)
10g.80276398C>GCA377361643MAT1Ac.746G>C (p.Arg249Pro)
c.623G>C (p.Arg208Pro)
10g.80276398C>TCA5576722MAT1Ac.746G>A (p.Arg249Gln)
c.623G>A (p.Arg208Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276399G>ACA5576723MAT1Ac.745C>T (p.Arg249Trp)
c.622C>T (p.Arg208Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276399G>CCA377361649MAT1Ac.745C>G (p.Arg249Gly)
c.622C>G (p.Arg208Gly)
10g.80276399G=CA1922574504MAT1Ac.745C= (p.Arg249=)
c.622C= (p.Arg208=)
10g.80276399G>TCA210323684MAT1Ac.745C>A (p.Arg249=)
c.622C>A (p.Arg208=)
 dbSNP gnomAD v2 gnomAD v4
10g.80276400C>ACA470467440MAT1Ac.744G>T (p.Gly248=)
c.621G>T (p.Gly207=)
10g.80276400C>GCA470467441MAT1Ac.744G>C (p.Gly248=)
c.621G>C (p.Gly207=)
10g.80276400C>TCA470467442MAT1Ac.744G>A (p.Gly248=)
c.621G>A (p.Gly207=)
10g.80276401C>ACA377361665MAT1Ac.743G>T (p.Gly248Val)
c.620G>T (p.Gly207Val)
10g.80276401C>GCA377361666MAT1Ac.743G>C (p.Gly248Ala)
c.620G>C (p.Gly207Ala)
10g.80276401C>TCA377361661MAT1Ac.743G>A (p.Gly248Glu)
c.620G>A (p.Gly207Glu)
10g.80276402C>ACA377361668MAT1Ac.742G>T (p.Gly248Trp)
c.619G>T (p.Gly207Trp)
10g.80276402C=CA1922574505MAT1Ac.742G= (p.Gly248=)
c.619G= (p.Gly207=)
10g.80276402C>GCA377361672MAT1Ac.742G>C (p.Gly248Arg)
c.619G>C (p.Gly207Arg)
10g.80276402C>TCA377361675MAT1Ac.742G>A (p.Gly248Arg)
c.619G>A (p.Gly207Arg)
 dbSNP
10g.80276403A>CCA377361677MAT1Ac.741T>G (p.Ser247Arg)
c.618T>G (p.Ser206Arg)
10g.80276403A>GCA470467443MAT1Ac.741T>C (p.Ser247=)
c.618T>C (p.Ser206=)
 ClinVar dbSNP gnomAD v4
10g.80276403A>TCA377361680MAT1Ac.741T>A (p.Ser247Arg)
c.618T>A (p.Ser206Arg)
 gnomAD v4
10g.80276404C>ACA377361686MAT1Ac.740G>T (p.Ser247Ile)
c.617G>T (p.Ser206Ile)
10g.80276404C=CA1922574507MAT1Ac.740G= (p.Ser247=)
c.617G= (p.Ser206=)
10g.80276404C>GCA377361683MAT1Ac.740G>C (p.Ser247Thr)
c.617G>C (p.Ser206Thr)
10g.80276404C>TCA377361682MAT1Ac.740G>A (p.Ser247Asn)
c.617G>A (p.Ser206Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.80276405T>ACA377361689MAT1Ac.739A>T (p.Ser247Cys)
c.616A>T (p.Ser206Cys)
 dbSNP gnomAD v3 gnomAD v4
10g.80276405T>CCA377361691MAT1Ac.739A>G (p.Ser247Gly)
c.616A>G (p.Ser206Gly)
10g.80276405T>GCA377361692MAT1Ac.739A>C (p.Ser247Arg)
c.616A>C (p.Ser206Arg)
10g.80276405T=CA1922574509MAT1Ac.739A= (p.Ser247=)
c.616A= (p.Ser206=)
10g.80276406G>ACA470467444MAT1Ac.738C>T (p.Pro246=)
c.615C>T (p.Pro205=)
10g.80276406G>CCA470467445MAT1Ac.738C>G (p.Pro246=)
c.615C>G (p.Pro205=)
10g.80276406G>TCA470467446MAT1Ac.738C>A (p.Pro246=)
c.615C>A (p.Pro205=)
10g.80276407G>ACA377361695MAT1Ac.737C>T (p.Pro246Leu)
c.614C>T (p.Pro205Leu)
10g.80276407G>CCA377361698MAT1Ac.737C>G (p.Pro246Arg)
c.614C>G (p.Pro205Arg)
10g.80276407G>TCA377361701MAT1Ac.737C>A (p.Pro246His)
c.614C>A (p.Pro205His)
10g.80276408G>ACA377361705MAT1Ac.736C>T (p.Pro246Ser)
c.613C>T (p.Pro205Ser)
 gnomAD v4
10g.80276408G>CCA377361711MAT1Ac.736C>G (p.Pro246Ala)
c.613C>G (p.Pro205Ala)
10g.80276408G>TCA377361707MAT1Ac.736C>A (p.Pro246Thr)
c.613C>A (p.Pro205Thr)
10g.80276409C>ACA377361714MAT1Ac.735G>T (p.Gln245His)
c.612G>T (p.Gln204His)
 COSMIC
10g.80276409C>GCA377361717MAT1Ac.735G>C (p.Gln245His)
c.612G>C (p.Gln204His)
10g.80276409C>TCA470467447MAT1Ac.735G>A (p.Gln245=)
c.612G>A (p.Gln204=)
10g.80276409_80276410delCA913203490MAT1Ac.734_735del (p.Gln245ProfsTer20)
c.611_612del (p.Gln204ProfsTer20)
10g.80276410T>ACA377361724MAT1Ac.734A>T (p.Gln245Leu)
c.611A>T (p.Gln204Leu)
10g.80276410T>CCA377361729MAT1Ac.734A>G (p.Gln245Arg)
c.611A>G (p.Gln204Arg)
10g.80276410T>GCA377361726MAT1Ac.734A>C (p.Gln245Pro)
c.611A>C (p.Gln204Pro)
10g.80276411G>ACA377361735MAT1Ac.733C>T (p.Gln245Ter)
c.610C>T (p.Gln204Ter)
10g.80276411G>CCA377361737MAT1Ac.733C>G (p.Gln245Glu)
c.610C>G (p.Gln204Glu)
10g.80276411G>TCA377361740MAT1Ac.733C>A (p.Gln245Lys)
c.610C>A (p.Gln204Lys)
10g.80276412C>ACA470467448MAT1Ac.732G>T (p.Leu244=)
c.609G>T (p.Leu203=)
10g.80276412C=CA1922574511MAT1Ac.732G= (p.Leu244=)
c.609G= (p.Leu203=)
10g.80276412C>GCA5576724MAT1Ac.732G>C (p.Leu244=)
c.609G>C (p.Leu203=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276412C>TCA470467449MAT1Ac.732G>A (p.Leu244=)
c.609G>A (p.Leu203=)
 gnomAD v4
10g.80276413A>CCA377361746MAT1Ac.731T>G (p.Leu244Arg)
c.608T>G (p.Leu203Arg)
10g.80276413A>GCA377361748MAT1Ac.731T>C (p.Leu244Pro)
c.608T>C (p.Leu203Pro)
10g.80276413A>TCA377361750MAT1Ac.731T>A (p.Leu244Gln)
c.608T>A (p.Leu203Gln)
10g.80276414G>ACA470467450MAT1Ac.730C>T (p.Leu244=)
c.607C>T (p.Leu203=)
10g.80276414G>CCA377361753MAT1Ac.730C>G (p.Leu244Val)
c.607C>G (p.Leu203Val)
10g.80276414G>TCA377361755MAT1Ac.730C>A (p.Leu244Met)
c.607C>A (p.Leu203Met)
10g.80276415G>ACA470467451MAT1Ac.729C>T (p.His243=)
c.606C>T (p.His202=)
 gnomAD v4
10g.80276415G>CCA377361758MAT1Ac.729C>G (p.His243Gln)
c.606C>G (p.His202Gln)
10g.80276415G>TCA377361761MAT1Ac.729C>A (p.His243Gln)
c.606C>A (p.His202Gln)
 gnomAD v4
10g.80276416T>ACA377361765MAT1Ac.728A>T (p.His243Leu)
c.605A>T (p.His202Leu)
10g.80276416T>CCA377361764MAT1Ac.728A>G (p.His243Arg)
c.605A>G (p.His202Arg)
 gnomAD v4
10g.80276416T>GCA377361763MAT1Ac.728A>C (p.His243Pro)
c.605A>C (p.His202Pro)
10g.80276417G>ACA377361766MAT1Ac.727C>T (p.His243Tyr)
c.604C>T (p.His202Tyr)
10g.80276417G>CCA377361769MAT1Ac.727C>G (p.His243Asp)
c.604C>G (p.His202Asp)
10g.80276417G>TCA377361771MAT1Ac.727C>A (p.His243Asn)
c.604C>A (p.His202Asn)
10g.80276418G>ACA470467452MAT1Ac.726C>T (p.Tyr242=)
c.603C>T (p.Tyr201=)
10g.80276418G>CCA377361772MAT1Ac.726C>G (p.Tyr242Ter)
c.603C>G (p.Tyr201Ter)
10g.80276418G>TCA377361773MAT1Ac.726C>A (p.Tyr242Ter)
c.603C>A (p.Tyr201Ter)
10g.80276419T>ACA377361775MAT1Ac.725A>T (p.Tyr242Phe)
c.602A>T (p.Tyr201Phe)
10g.80276419T>CCA377361777MAT1Ac.725A>G (p.Tyr242Cys)
c.602A>G (p.Tyr201Cys)
10g.80276419T>GCA377361778MAT1Ac.725A>C (p.Tyr242Ser)
c.602A>C (p.Tyr201Ser)
10g.80276419dupCA2609913673MAT1Ac.725dup (p.Tyr242Ter)
c.602dup (p.Tyr201Ter)
 gnomAD v4
10g.80276420A>CCA377361780MAT1Ac.724T>G (p.Tyr242Asp)
c.601T>G (p.Tyr201Asp)
10g.80276420A>GCA377361781MAT1Ac.724T>C (p.Tyr242His)
c.601T>C (p.Tyr201His)
10g.80276420A>TCA377361782MAT1Ac.724T>A (p.Tyr242Asn)
c.601T>A (p.Tyr201Asn)
10g.80276421G>ACA470467453MAT1Ac.723C>T (p.Val241=)
c.600C>T (p.Val200=)
10g.80276421G>CCA5576725MAT1Ac.723C>G (p.Val241=)
c.600C>G (p.Val200=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276421G=CA1922574514MAT1Ac.723C= (p.Val241=)
c.600C= (p.Val200=)
10g.80276421G>TCA470467454MAT1Ac.723C>A (p.Val241=)
c.600C>A (p.Val200=)
10g.80276422A=CA1922574516MAT1Ac.722T= (p.Val241=)
c.599T= (p.Val200=)
10g.80276422A>CCA377361788MAT1Ac.722T>G (p.Val241Gly)
c.599T>G (p.Val200Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.80276422A>GCA377361787MAT1Ac.722T>C (p.Val241Ala)
c.599T>C (p.Val200Ala)
 COSMIC
10g.80276422A>TCA377361785MAT1Ac.722T>A (p.Val241Asp)
c.599T>A (p.Val200Asp)
10g.80276423C>ACA210323692MAT1Ac.721G>T (p.Val241Phe)
c.598G>T (p.Val200Phe)
 dbSNP
10g.80276423C=CA1922574518MAT1Ac.721G= (p.Val241=)
c.598G= (p.Val200=)
10g.80276423C>GCA377361790MAT1Ac.721G>C (p.Val241Leu)
c.598G>C (p.Val200Leu)
10g.80276423C>TCA5576726MAT1Ac.721G>A (p.Val241Ile)
c.598G>A (p.Val200Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80276424G>ACA5576727MAT1Ac.720C>T (p.Thr240=)
c.597C>T (p.Thr199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80276424G>CCA470467455MAT1Ac.720C>G (p.Thr240=)
c.597C>G (p.Thr199=)
10g.80276424G=CA1922574524MAT1Ac.720C= (p.Thr240=)
c.597C= (p.Thr199=)
10g.80276424G>TCA470467456MAT1Ac.720C>A (p.Thr240=)
c.597C>A (p.Thr199=)
10g.80276425G>ACA210323714MAT1Ac.719C>T (p.Thr240Ile)
c.596C>T (p.Thr199Ile)
 dbSNP
10g.80276425G>CCA377361794MAT1Ac.719C>G (p.Thr240Ser)
c.596C>G (p.Thr199Ser)
10g.80276425G=CA1922574527MAT1Ac.719C= (p.Thr240=)
c.596C= (p.Thr199=)
10g.80276425G>TCA210323720MAT1Ac.719C>A (p.Thr240Asn)
c.596C>A (p.Thr199Asn)
 dbSNP
10g.80276426T>ACA377361800MAT1Ac.718A>T (p.Thr240Ser)
c.595A>T (p.Thr199Ser)
10g.80276426T>CCA377361796MAT1Ac.718A>G (p.Thr240Ala)
c.595A>G (p.Thr199Ala)
 gnomAD v4
10g.80276426T>GCA377361798MAT1Ac.718A>C (p.Thr240Pro)
c.595A>C (p.Thr199Pro)
10g.80276427G>ACA470467457MAT1Ac.717C>T (p.Asp239=)
c.594C>T (p.Asp198=)
10g.80276427G>CCA377361801MAT1Ac.717C>G (p.Asp239Glu)
c.594C>G (p.Asp198Glu)
10g.80276427G>TCA377361803MAT1Ac.717C>A (p.Asp239Glu)
c.594C>A (p.Asp198Glu)
10g.80276428T>ACA377361804MAT1Ac.716A>T (p.Asp239Val)
c.593A>T (p.Asp198Val)
10g.80276428T>CCA377361806MAT1Ac.716A>G (p.Asp239Gly)
c.593A>G (p.Asp198Gly)
10g.80276428T>GCA377361808MAT1Ac.716A>C (p.Asp239Ala)
c.593A>C (p.Asp198Ala)
10g.80276429C>ACA377361809MAT1Ac.715G>T (p.Asp239Tyr)
c.592G>T (p.Asp198Tyr)
10g.80276429C>GCA377361812MAT1Ac.715G>C (p.Asp239His)
c.592G>C (p.Asp198His)
10g.80276429C>TCA377361810MAT1Ac.715G>A (p.Asp239Asn)
c.592G>A (p.Asp198Asn)
10g.80276430T>ACA377361814MAT1Ac.714A>T (p.Glu238Asp)
c.591A>T (p.Glu197Asp)
10g.80276430T>CCA470467458MAT1Ac.714A>G (p.Glu238=)
c.591A>G (p.Glu197=)
10g.80276430T>GCA377361815MAT1Ac.714A>C (p.Glu238Asp)
c.591A>C (p.Glu197Asp)
10g.80276431T>ACA377361816MAT1Ac.713A>T (p.Glu238Val)
c.590A>T (p.Glu197Val)
10g.80276431T>CCA377361818MAT1Ac.713A>G (p.Glu238Gly)
c.590A>G (p.Glu197Gly)
10g.80276431T>GCA377361820MAT1Ac.713A>C (p.Glu238Ala)
c.590A>C (p.Glu197Ala)
 COSMIC
10g.80276432C>ACA377361822MAT1Ac.712G>T (p.Glu238Ter)
c.589G>T (p.Glu197Ter)
10g.80276432C=CA1922574533MAT1Ac.712G= (p.Glu238=)
c.589G= (p.Glu197=)
10g.80276432C>GCA377361823MAT1Ac.712G>C (p.Glu238Gln)
c.589G>C (p.Glu197Gln)
10g.80276432C>TCA5576728MAT1Ac.712G>A (p.Glu238Lys)
c.589G>A (p.Glu197Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80276433G>ACA5576729MAT1Ac.711C>T (p.Asp237=)
c.588C>T (p.Asp196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80276433G>CCA377361826MAT1Ac.711C>G (p.Asp237Glu)
c.588C>G (p.Asp196Glu)
10g.80276433G=CA1922574538MAT1Ac.711C= (p.Asp237=)
c.588C= (p.Asp196=)
10g.80276433G>TCA377361827MAT1Ac.711C>A (p.Asp237Glu)
c.588C>A (p.Asp196Glu)
10g.80276434T>ACA377361831MAT1Ac.710A>T (p.Asp237Val)
c.587A>T (p.Asp196Val)
10g.80276434T>CCA377361833MAT1Ac.710A>G (p.Asp237Gly)
c.587A>G (p.Asp196Gly)
10g.80276434T>GCA377361829MAT1Ac.710A>C (p.Asp237Ala)
c.587A>C (p.Asp196Ala)
10g.80276435C>ACA377361834MAT1Ac.709G>T (p.Asp237Tyr)
c.586G>T (p.Asp196Tyr)
10g.80276435C>GCA377361838MAT1Ac.709G>C (p.Asp237His)
c.586G>C (p.Asp196His)
10g.80276435C>TCA377361835MAT1Ac.709G>A (p.Asp237Asn)
c.586G>A (p.Asp196Asn)
 gnomAD v4
10g.80276436C>ACA470467459MAT1Ac.708G>T (p.Leu236=)
c.585G>T (p.Leu195=)
10g.80276436C>GCA470467460MAT1Ac.708G>C (p.Leu236=)
c.585G>C (p.Leu195=)
10g.80276436C>TCA470467461MAT1Ac.708G>A (p.Leu236=)
c.585G>A (p.Leu195=)
 gnomAD v4
10g.80276437A>CCA377361841MAT1Ac.707T>G (p.Leu236Arg)
c.584T>G (p.Leu195Arg)
10g.80276437A>GCA377361844MAT1Ac.707T>C (p.Leu236Pro)
c.584T>C (p.Leu195Pro)
10g.80276437A>TCA377361845MAT1Ac.707T>A (p.Leu236Gln)
c.584T>A (p.Leu195Gln)
10g.80276438G>ACA470467462MAT1Ac.706C>T (p.Leu236=)
c.583C>T (p.Leu195=)
10g.80276438G>CCA377361849MAT1Ac.706C>G (p.Leu236Val)
c.583C>G (p.Leu195Val)
10g.80276438G=CA1922574540MAT1Ac.706C= (p.Leu236=)
c.583C= (p.Leu195=)
10g.80276438G>TCA5576730MAT1Ac.706C>A (p.Leu236Met)
c.583C>A (p.Leu195Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276440_80276450delCA2609913675MAT1Ac.696_706del (p.Ala233GlyfsTer29)
c.573_583del (p.Ala192GlyfsTer29)
 gnomAD v4
10g.80276439G>ACA5576731MAT1Ac.705C>T (p.Tyr235=)
c.582C>T (p.Tyr194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276439G>CCA377361858MAT1Ac.705C>G (p.Tyr235Ter)
c.582C>G (p.Tyr194Ter)
10g.80276439G=CA1922574544MAT1Ac.705C= (p.Tyr235=)
c.582C= (p.Tyr194=)
10g.80276439G>TCA377361860MAT1Ac.705C>A (p.Tyr235Ter)
c.582C>A (p.Tyr194Ter)
 ClinVar dbSNP
10g.80276440T>ACA377361863MAT1Ac.704A>T (p.Tyr235Phe)
c.581A>T (p.Tyr194Phe)
10g.80276440T>CCA377361866MAT1Ac.704A>G (p.Tyr235Cys)
c.581A>G (p.Tyr194Cys)
 gnomAD v4
10g.80276440T>GCA377361868MAT1Ac.704A>C (p.Tyr235Ser)
c.581A>C (p.Tyr194Ser)
10g.80276441A>CCA377361875MAT1Ac.703T>G (p.Tyr235Asp)
c.580T>G (p.Tyr194Asp)
10g.80276441A>GCA377361874MAT1Ac.703T>C (p.Tyr235His)
c.580T>C (p.Tyr194His)
10g.80276441A>TCA377361871MAT1Ac.703T>A (p.Tyr235Asn)
c.580T>A (p.Tyr194Asn)
10g.80276442C>ACA377361877MAT1Ac.702G>T (p.Lys234Asn)
c.579G>T (p.Lys193Asn)
 gnomAD v4
10g.80276442C=CA1922574547MAT1Ac.702G= (p.Lys234=)
c.579G= (p.Lys193=)
10g.80276442C>GCA377361878MAT1Ac.702G>C (p.Lys234Asn)
c.579G>C (p.Lys193Asn)
 dbSNP gnomAD v2
10g.80276442C>TCA470467463MAT1Ac.702G>A (p.Lys234=)
c.579G>A (p.Lys193=)
10g.80276443T>ACA377361881MAT1Ac.701A>T (p.Lys234Met)
c.578A>T (p.Lys193Met)
10g.80276443T>CCA377361884MAT1Ac.701A>G (p.Lys234Arg)
c.578A>G (p.Lys193Arg)
 gnomAD v4
10g.80276443T>GCA210323740MAT1Ac.701A>C (p.Lys234Thr)
c.578A>C (p.Lys193Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80276443T=CA1922574550MAT1Ac.701A= (p.Lys234=)
c.578A= (p.Lys193=)
10g.80276444T>ACA377361889MAT1Ac.700A>T (p.Lys234Ter)
c.577A>T (p.Lys193Ter)
10g.80276444T>CCA377361891MAT1Ac.700A>G (p.Lys234Glu)
c.577A>G (p.Lys193Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.80276444T>GCA377361893MAT1Ac.700A>C (p.Lys234Gln)
c.577A>C (p.Lys193Gln)
10g.80276444T=CA1922574552MAT1Ac.700A= (p.Lys234=)
c.577A= (p.Lys193=)
10g.80276445G>ACA470467465MAT1Ac.699C>T (p.Ala233=)
c.576C>T (p.Ala192=)
10g.80276445G>CCA470467464MAT1Ac.699C>G (p.Ala233=)
c.576C>G (p.Ala192=)
10g.80276445G=CA1922574554MAT1Ac.699C= (p.Ala233=)
c.576C= (p.Ala192=)
10g.80276445G>TCA470467466MAT1Ac.699C>A (p.Ala233=)
c.576C>A (p.Ala192=)
 dbSNP gnomAD v4
10g.80276446G>ACA377361896MAT1Ac.698C>T (p.Ala233Val)
c.575C>T (p.Ala192Val)
10g.80276446G>CCA377361897MAT1Ac.698C>G (p.Ala233Gly)
c.575C>G (p.Ala192Gly)
10g.80276446G>TCA377361900MAT1Ac.698C>A (p.Ala233Asp)
c.575C>A (p.Ala192Asp)
 gnomAD v4
10g.80276447C>ACA377361906MAT1Ac.697G>T (p.Ala233Ser)
c.574G>T (p.Ala192Ser)
10g.80276447C=CA1922574558MAT1Ac.697G= (p.Ala233=)
c.574G= (p.Ala192=)
10g.80276447C>GCA377361905MAT1Ac.697G>C (p.Ala233Pro)
c.574G>C (p.Ala192Pro)
10g.80276447C>TCA210323752MAT1Ac.697G>A (p.Ala233Thr)
c.574G>A (p.Ala192Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80276448C>ACA470467467MAT1Ac.696G>T (p.Pro232=)
c.573G>T (p.Pro191=)
10g.80276448C=CA1922574563MAT1Ac.696G= (p.Pro232=)
c.573G= (p.Pro191=)
10g.80276448C>GCA470467468MAT1Ac.696G>C (p.Pro232=)
c.573G>C (p.Pro191=)
10g.80276448C>TCA5576732MAT1Ac.696G>A (p.Pro232=)
c.573G>A (p.Pro191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276449G>ACA377361912MAT1Ac.695C>T (p.Pro232Leu)
c.572C>T (p.Pro191Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80276449G>CCA377361913MAT1Ac.695C>G (p.Pro232Arg)
c.572C>G (p.Pro191Arg)
10g.80276449G=CA1922574566MAT1Ac.695C= (p.Pro232=)
c.572C= (p.Pro191=)
10g.80276449G>TCA377361915MAT1Ac.695C>A (p.Pro232Gln)
c.572C>A (p.Pro191Gln)
10g.80276450G>ACA377361917MAT1Ac.694C>T (p.Pro232Ser)
c.571C>T (p.Pro191Ser)
10g.80276450G>CCA377361919MAT1Ac.694C>G (p.Pro232Ala)
c.571C>G (p.Pro191Ala)
10g.80276450G>TCA377361920MAT1Ac.694C>A (p.Pro232Thr)
c.571C>A (p.Pro191Thr)
10g.80276451C>ACA470467469MAT1Ac.693G>T (p.Val231=)
c.570G>T (p.Val190=)
10g.80276451C>GCA470467470MAT1Ac.693G>C (p.Val231=)
c.570G>C (p.Val190=)
10g.80276451C>TCA470467471MAT1Ac.693G>A (p.Val231=)
c.570G>A (p.Val190=)
10g.80276452A>CCA377361923MAT1Ac.692T>G (p.Val231Gly)
c.569T>G (p.Val190Gly)
10g.80276452A>GCA377361924MAT1Ac.692T>C (p.Val231Ala)
c.569T>C (p.Val190Ala)
 gnomAD v4
10g.80276452A>TCA377361926MAT1Ac.692T>A (p.Val231Glu)
c.569T>A (p.Val190Glu)
10g.80276453C>ACA210323784MAT1Ac.691G>T (p.Val231Leu)
c.568G>T (p.Val190Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80276453C=CA1922574570MAT1Ac.691G= (p.Val231=)
c.568G= (p.Val190=)
10g.80276453C>GCA377361932MAT1Ac.691G>C (p.Val231Leu)
c.568G>C (p.Val190Leu)
10g.80276453C>TCA377361934MAT1Ac.691G>A (p.Val231Met)
c.568G>A (p.Val190Met)
 ClinVar
10g.80276454C>ACA470467473MAT1Ac.690G>T (p.Val230=)
c.567G>T (p.Val189=)
10g.80276454C=CA1922574571MAT1Ac.690G= (p.Val230=)
c.567G= (p.Val189=)
10g.80276454C>GCA470467474MAT1Ac.690G>C (p.Val230=)
c.567G>C (p.Val189=)
10g.80276454C>TCA5576733MAT1Ac.690G>A (p.Val230=)
c.567G>A (p.Val189=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276455A>CCA377361937MAT1Ac.689T>G (p.Val230Gly)
c.566T>G (p.Val189Gly)
10g.80276455A>GCA377361939MAT1Ac.689T>C (p.Val230Ala)
c.566T>C (p.Val189Ala)
10g.80276455A>TCA377361940MAT1Ac.689T>A (p.Val230Glu)
c.566T>A (p.Val189Glu)
10g.80276456C>ACA377361941MAT1Ac.688G>T (p.Val230Leu)
c.565G>T (p.Val189Leu)
10g.80276456C=CA1922574573MAT1Ac.688G= (p.Val230=)
c.565G= (p.Val189=)
10g.80276456C>GCA377361942MAT1Ac.688G>C (p.Val230Leu)
c.565G>C (p.Val189Leu)
10g.80276456C>TCA5576734MAT1Ac.688G>A (p.Val230Met)
c.565G>A (p.Val189Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276457G>ACA5576735MAT1Ac.687C>T (p.Ala229=)
c.564C>T (p.Ala188=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276457G>CCA470467475MAT1Ac.687C>G (p.Ala229=)
c.564C>G (p.Ala188=)
 gnomAD v4
10g.80276457G=CA1922574576MAT1Ac.687C= (p.Ala229=)
c.564C= (p.Ala188=)
10g.80276457G>TCA470467476MAT1Ac.687C>A (p.Ala229=)
c.564C>A (p.Ala188=)

Number of alleles fetched