Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80280281_80280284delinsCTCTCA1922577926MAT1Ac.438_441delinsAGAG (p.Thr146=)
c.249_252delinsAGAG (p.Thr83=)
c.315_318delinsAGAG (p.Thr105=)
10g.80280282_80280284delCA594462503MAT1Ac.438_440del (p.Glu147del)
c.249_251del (p.Glu84del)
c.315_317del (p.Glu106del)
 dbSNP gnomAD v2 gnomAD v4
10g.80280283C>ACA377362820MAT1Ac.439G>T (p.Glu147Ter)
c.250G>T (p.Glu84Ter)
c.316G>T (p.Glu106Ter)
10g.80280283C>GCA377362821MAT1Ac.439G>C (p.Glu147Gln)
c.250G>C (p.Glu84Gln)
c.316G>C (p.Glu106Gln)
10g.80280283C>TCA377362822MAT1Ac.439G>A (p.Glu147Lys)
c.250G>A (p.Glu84Lys)
c.316G>A (p.Glu106Lys)
10g.80280284T>ACA470468619MAT1Ac.438A>T (p.Thr146=)
c.249A>T (p.Thr83=)
c.315A>T (p.Thr105=)
10g.80280284T>CCA470468621MAT1Ac.438A>G (p.Thr146=)
c.249A>G (p.Thr83=)
c.315A>G (p.Thr105=)
10g.80280284T>GCA470468624MAT1Ac.438A>C (p.Thr146=)
c.249A>C (p.Thr83=)
c.315A>C (p.Thr105=)
10g.80280285G>ACA377362823MAT1Ac.437C>T (p.Thr146Ile)
c.248C>T (p.Thr83Ile)
c.314C>T (p.Thr105Ile)
10g.80280285G>CCA377362824MAT1Ac.437C>G (p.Thr146Arg)
c.248C>G (p.Thr83Arg)
c.314C>G (p.Thr105Arg)
10g.80280285G>TCA377362825MAT1Ac.437C>A (p.Thr146Lys)
c.248C>A (p.Thr83Lys)
c.314C>A (p.Thr105Lys)
10g.80280286T>ACA377362826MAT1Ac.436A>T (p.Thr146Ser)
c.247A>T (p.Thr83Ser)
c.313A>T (p.Thr105Ser)
10g.80280286T>CCA377362827MAT1Ac.436A>G (p.Thr146Ala)
c.247A>G (p.Thr83Ala)
c.313A>G (p.Thr105Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280286T>GCA377362828MAT1Ac.436A>C (p.Thr146Pro)
c.247A>C (p.Thr83Pro)
c.313A>C (p.Thr105Pro)
10g.80280286T=CA1922577927MAT1Ac.436A= (p.Thr146=)
c.247A= (p.Thr83=)
c.313A= (p.Thr105=)
10g.80280287C>ACA377362830MAT1Ac.435G>T (p.Glu145Asp)
c.246G>T (p.Glu82Asp)
c.312G>T (p.Glu104Asp)
10g.80280287C>GCA377362829MAT1Ac.435G>C (p.Glu145Asp)
c.246G>C (p.Glu82Asp)
c.312G>C (p.Glu104Asp)
10g.80280287C>TCA470468641MAT1Ac.435G>A (p.Glu145=)
c.246G>A (p.Glu82=)
c.312G>A (p.Glu104=)
10g.80280288T>ACA377362831MAT1Ac.434A>T (p.Glu145Val)
c.245A>T (p.Glu82Val)
c.311A>T (p.Glu104Val)
10g.80280288T>CCA210326937MAT1Ac.434A>G (p.Glu145Gly)
c.245A>G (p.Glu82Gly)
c.311A>G (p.Glu104Gly)
 dbSNP
10g.80280288T>GCA377362832MAT1Ac.434A>C (p.Glu145Ala)
c.245A>C (p.Glu82Ala)
c.311A>C (p.Glu104Ala)
10g.80280288T=CA1922577928MAT1Ac.434A= (p.Glu145=)
c.245A= (p.Glu82=)
c.311A= (p.Glu104=)
10g.80280291_80280293delCA2609913840MAT1Ac.432_434del (p.Asp144del)
c.243_245del (p.Asp81del)
c.309_311del (p.Asp103del)
 gnomAD v4
10g.80280289C>ACA377362833MAT1Ac.433G>T (p.Glu145Ter)
c.244G>T (p.Glu82Ter)
c.310G>T (p.Glu104Ter)
10g.80280289C=CA1922577929MAT1Ac.433G= (p.Glu145=)
c.244G= (p.Glu82=)
c.310G= (p.Glu104=)
10g.80280289C>GCA377362834MAT1Ac.433G>C (p.Glu145Gln)
c.244G>C (p.Glu82Gln)
c.310G>C (p.Glu104Gln)
10g.80280289C>TCA210326938MAT1Ac.433G>A (p.Glu145Lys)
c.244G>A (p.Glu82Lys)
c.310G>A (p.Glu104Lys)
 ClinVar dbSNP gnomAD v4
10g.80280290G>ACA5576787MAT1Ac.432C>T (p.Asp144=)
c.243C>T (p.Asp81=)
c.309C>T (p.Asp103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280290G>CCA377362835MAT1Ac.432C>G (p.Asp144Glu)
c.243C>G (p.Asp81Glu)
c.309C>G (p.Asp103Glu)
10g.80280290G=CA1922577930MAT1Ac.432C= (p.Asp144=)
c.243C= (p.Asp81=)
c.309C= (p.Asp103=)
10g.80280290G>TCA377362836MAT1Ac.432C>A (p.Asp144Glu)
c.243C>A (p.Asp81Glu)
c.309C>A (p.Asp103Glu)
10g.80280291T>ACA377362837MAT1Ac.431A>T (p.Asp144Val)
c.242A>T (p.Asp81Val)
c.308A>T (p.Asp103Val)
10g.80280291T>CCA377362838MAT1Ac.431A>G (p.Asp144Gly)
c.242A>G (p.Asp81Gly)
c.308A>G (p.Asp103Gly)
10g.80280291T>GCA377362839MAT1Ac.431A>C (p.Asp144Ala)
c.242A>C (p.Asp81Ala)
c.308A>C (p.Asp103Ala)
10g.80280292C>ACA377362840MAT1Ac.430G>T (p.Asp144Tyr)
c.241G>T (p.Asp81Tyr)
c.307G>T (p.Asp103Tyr)
10g.80280292C=CA1922577931MAT1Ac.430G= (p.Asp144=)
c.241G= (p.Asp81=)
c.307G= (p.Asp103=)
10g.80280292C>GCA377362841MAT1Ac.430G>C (p.Asp144His)
c.241G>C (p.Asp81His)
c.307G>C (p.Asp103His)
 gnomAD v4
10g.80280292C>TCA5576788MAT1Ac.430G>A (p.Asp144Asn)
c.241G>A (p.Asp81Asn)
c.307G>A (p.Asp103Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280293G>ACA5576789MAT1Ac.429C>T (p.Thr143=)
c.240C>T (p.Thr80=)
c.306C>T (p.Thr102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280293G>CCA470468674MAT1Ac.429C>G (p.Thr143=)
c.240C>G (p.Thr80=)
c.306C>G (p.Thr102=)
10g.80280293G=CA1922577932MAT1Ac.429C= (p.Thr143=)
c.240C= (p.Thr80=)
c.306C= (p.Thr102=)
10g.80280293G>TCA470468671MAT1Ac.429C>A (p.Thr143=)
c.240C>A (p.Thr80=)
c.306C>A (p.Thr102=)
10g.80280294G>ACA377362842MAT1Ac.428C>T (p.Thr143Ile)
c.239C>T (p.Thr80Ile)
c.305C>T (p.Thr102Ile)
10g.80280294G>CCA377362843MAT1Ac.428C>G (p.Thr143Ser)
c.239C>G (p.Thr80Ser)
c.305C>G (p.Thr102Ser)
 dbSNP
10g.80280294G=CA1922577933MAT1Ac.428C= (p.Thr143=)
c.239C= (p.Thr80=)
c.305C= (p.Thr102=)
10g.80280294G>TCA377362844MAT1Ac.428C>A (p.Thr143Asn)
c.239C>A (p.Thr80Asn)
c.305C>A (p.Thr102Asn)
10g.80280295T>ACA377362847MAT1Ac.427A>T (p.Thr143Ser)
c.238A>T (p.Thr80Ser)
c.304A>T (p.Thr102Ser)
 gnomAD v4
10g.80280295T>CCA377362846MAT1Ac.427A>G (p.Thr143Ala)
c.238A>G (p.Thr80Ala)
c.304A>G (p.Thr102Ala)
10g.80280295T>GCA377362845MAT1Ac.427A>C (p.Thr143Pro)
c.238A>C (p.Thr80Pro)
c.304A>C (p.Thr102Pro)
10g.80280296A=CA1630848389MAT1Ac.426T= (p.Ala142=)
c.237T= (p.Ala79=)
c.303T= (p.Ala101=)
10g.80280296A>CCA470468689MAT1Ac.426T>G (p.Ala142=)
c.237T>G (p.Ala79=)
c.303T>G (p.Ala101=)
 dbSNP
10g.80280296A>GCA5576790MAT1Ac.426T>C (p.Ala142=)
c.237T>C (p.Ala79=)
c.303T>C (p.Ala101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280296A>TCA470468694MAT1Ac.426T>A (p.Ala142=)
c.237T>A (p.Ala79=)
c.303T>A (p.Ala101=)
 dbSNP
10g.80280297G>ACA377362848MAT1Ac.425C>T (p.Ala142Val)
c.236C>T (p.Ala79Val)
c.302C>T (p.Ala101Val)
 gnomAD v4
10g.80280297G>CCA377362849MAT1Ac.425C>G (p.Ala142Gly)
c.236C>G (p.Ala79Gly)
c.302C>G (p.Ala101Gly)
10g.80280297G>TCA377362850MAT1Ac.425C>A (p.Ala142Asp)
c.236C>A (p.Ala79Asp)
c.302C>A (p.Ala101Asp)
10g.80280298C>ACA377362851MAT1Ac.424G>T (p.Ala142Ser)
c.235G>T (p.Ala79Ser)
c.301G>T (p.Ala101Ser)
10g.80280298C>GCA377362852MAT1Ac.424G>C (p.Ala142Pro)
c.235G>C (p.Ala79Pro)
c.301G>C (p.Ala101Pro)
10g.80280298C>TCA377362853MAT1Ac.424G>A (p.Ala142Thr)
c.235G>A (p.Ala79Thr)
c.301G>A (p.Ala101Thr)
10g.80280299A>CCA377362855MAT1Ac.423T>G (p.Tyr141Ter)
c.234T>G (p.Tyr78Ter)
c.300T>G (p.Tyr100Ter)
10g.80280299A>GCA470468706MAT1Ac.423T>C (p.Tyr141=)
c.234T>C (p.Tyr78=)
c.300T>C (p.Tyr100=)
 dbSNP gnomAD v4
10g.80280299A>TCA377362854MAT1Ac.423T>A (p.Tyr141Ter)
c.234T>A (p.Tyr78Ter)
c.300T>A (p.Tyr100Ter)
10g.80280300T>ACA377362856MAT1Ac.422A>T (p.Tyr141Phe)
c.233A>T (p.Tyr78Phe)
c.299A>T (p.Tyr100Phe)
 gnomAD v4
10g.80280300T>CCA377362858MAT1Ac.422A>G (p.Tyr141Cys)
c.233A>G (p.Tyr78Cys)
c.299A>G (p.Tyr100Cys)
 ClinVar dbSNP gnomAD v4
10g.80280300T>GCA377362857MAT1Ac.422A>C (p.Tyr141Ser)
c.233A>C (p.Tyr78Ser)
c.299A>C (p.Tyr100Ser)
10g.80280300T=CA1922577934MAT1Ac.422A= (p.Tyr141=)
c.233A= (p.Tyr78=)
c.299A= (p.Tyr100=)
10g.80280301A>CCA377362859MAT1Ac.421T>G (p.Tyr141Asp)
c.232T>G (p.Tyr78Asp)
c.298T>G (p.Tyr100Asp)
10g.80280301A>GCA377362860MAT1Ac.421T>C (p.Tyr141His)
c.232T>C (p.Tyr78His)
c.298T>C (p.Tyr100His)
10g.80280301A>TCA377362861MAT1Ac.421T>A (p.Tyr141Asn)
c.232T>A (p.Tyr78Asn)
c.298T>A (p.Tyr100Asn)
10g.80280302G>ACA470468709MAT1Ac.420C>T (p.Gly140=)
c.231C>T (p.Gly77=)
c.297C>T (p.Gly99=)
10g.80280302G>CCA470468712MAT1Ac.420C>G (p.Gly140=)
c.231C>G (p.Gly77=)
c.297C>G (p.Gly99=)
10g.80280302G>TCA470468715MAT1Ac.420C>A (p.Gly140=)
c.231C>A (p.Gly77=)
c.297C>A (p.Gly99=)
10g.80280303C>ACA377362862MAT1Ac.419G>T (p.Gly140Val)
c.230G>T (p.Gly77Val)
c.296G>T (p.Gly99Val)
10g.80280303C>GCA377362863MAT1Ac.419G>C (p.Gly140Ala)
c.230G>C (p.Gly77Ala)
c.296G>C (p.Gly99Ala)
10g.80280303C>TCA377362864MAT1Ac.419G>A (p.Gly140Asp)
c.230G>A (p.Gly77Asp)
c.296G>A (p.Gly99Asp)
10g.80280304C>ACA377362865MAT1Ac.418G>T (p.Gly140Cys)
c.229G>T (p.Gly77Cys)
c.295G>T (p.Gly99Cys)
10g.80280304C=CA1922577935MAT1Ac.418G= (p.Gly140=)
c.229G= (p.Gly77=)
c.295G= (p.Gly99=)
10g.80280304C>GCA377362866MAT1Ac.418G>C (p.Gly140Arg)
c.229G>C (p.Gly77Arg)
c.295G>C (p.Gly99Arg)
10g.80280304C>TCA377362867MAT1Ac.418G>A (p.Gly140Ser)
c.229G>A (p.Gly77Ser)
c.295G>A (p.Gly99Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280305G>ACA5576791MAT1Ac.417C>T (p.Phe139=)
c.228C>T (p.Phe76=)
c.294C>T (p.Phe98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80280305G>CCA377362868MAT1Ac.417C>G (p.Phe139Leu)
c.228C>G (p.Phe76Leu)
c.294C>G (p.Phe98Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.80280305G=CA1922577936MAT1Ac.417C= (p.Phe139=)
c.228C= (p.Phe76=)
c.294C= (p.Phe98=)
10g.80280305G>TCA377362869MAT1Ac.417C>A (p.Phe139Leu)
c.228C>A (p.Phe76Leu)
c.294C>A (p.Phe98Leu)
10g.80280306A>CCA377362872MAT1Ac.416T>G (p.Phe139Cys)
c.227T>G (p.Phe76Cys)
c.293T>G (p.Phe98Cys)
10g.80280306A>GCA377362870MAT1Ac.416T>C (p.Phe139Ser)
c.227T>C (p.Phe76Ser)
c.293T>C (p.Phe98Ser)
10g.80280306A>TCA377362871MAT1Ac.416T>A (p.Phe139Tyr)
c.227T>A (p.Phe76Tyr)
c.293T>A (p.Phe98Tyr)
10g.80280307A>CCA377362873MAT1Ac.415T>G (p.Phe139Val)
c.226T>G (p.Phe76Val)
c.292T>G (p.Phe98Val)
10g.80280307A>GCA377362874MAT1Ac.415T>C (p.Phe139Leu)
c.226T>C (p.Phe76Leu)
c.292T>C (p.Phe98Leu)
10g.80280307A>TCA377362875MAT1Ac.415T>A (p.Phe139Ile)
c.226T>A (p.Phe76Ile)
c.292T>A (p.Phe98Ile)
10g.80280308C>ACA377362876MAT1Ac.414G>T (p.Met138Ile)
c.225G>T (p.Met75Ile)
c.291G>T (p.Met97Ile)
10g.80280308C>GCA377362877MAT1Ac.414G>C (p.Met138Ile)
c.225G>C (p.Met75Ile)
c.291G>C (p.Met97Ile)
10g.80280308C>TCA377362878MAT1Ac.414G>A (p.Met138Ile)
c.225G>A (p.Met75Ile)
c.291G>A (p.Met97Ile)
 gnomAD v4
10g.80280309A>CCA377362879MAT1Ac.413T>G (p.Met138Arg)
c.224T>G (p.Met75Arg)
c.290T>G (p.Met97Arg)
10g.80280309A>GCA377362880MAT1Ac.413T>C (p.Met138Thr)
c.224T>C (p.Met75Thr)
c.290T>C (p.Met97Thr)
10g.80280309A>TCA377362881MAT1Ac.413T>A (p.Met138Lys)
c.224T>A (p.Met75Lys)
c.290T>A (p.Met97Lys)
10g.80280310T>ACA377362882MAT1Ac.412A>T (p.Met138Leu)
c.223A>T (p.Met75Leu)
c.289A>T (p.Met97Leu)
10g.80280310T>CCA377362883MAT1Ac.412A>G (p.Met138Val)
c.223A>G (p.Met75Val)
c.289A>G (p.Met97Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80280310T>GCA377362884MAT1Ac.412A>C (p.Met138Leu)
c.223A>C (p.Met75Leu)
c.289A>C (p.Met97Leu)
10g.80280310T=CA1922577937MAT1Ac.412A= (p.Met138=)
c.223A= (p.Met75=)
c.289A= (p.Met97=)
10g.80280311C>ACA377362886MAT1Ac.411G>T (p.Leu137Phe)
c.222G>T (p.Leu74Phe)
c.288G>T (p.Leu96Phe)
10g.80280311C>GCA377362885MAT1Ac.411G>C (p.Leu137Phe)
c.222G>C (p.Leu74Phe)
c.288G>C (p.Leu96Phe)
10g.80280311C>TCA470468739MAT1Ac.411G>A (p.Leu137=)
c.222G>A (p.Leu74=)
c.288G>A (p.Leu96=)
10g.80280312A>CCA377362887MAT1Ac.410T>G (p.Leu137Trp)
c.221T>G (p.Leu74Trp)
c.287T>G (p.Leu96Trp)
10g.80280312A>GCA377362889MAT1Ac.410T>C (p.Leu137Ser)
c.221T>C (p.Leu74Ser)
c.287T>C (p.Leu96Ser)
10g.80280312A>TCA377362888MAT1Ac.410T>A (p.Leu137Ter)
c.221T>A (p.Leu74Ter)
c.287T>A (p.Leu96Ter)
10g.80280313_80280314delCA2544980091MAT1Ac.409_410del (p.Leu137AspfsTer?)
c.220_221del (p.Leu74AspfsTer?)
c.286_287del (p.Leu96AspfsTer?)
10g.80280312_80280313insTCA2536161779MAT1Ac.409_410insA (p.Leu137TyrfsTer?)
c.220_221insA (p.Leu74TyrfsTer?)
c.286_287insA (p.Leu96TyrfsTer?)
10g.80280312_80280313insTGCCTTGGTCGCCGGCGCCCTGGTTGTCA2527687608MAT1Ac.409_410insACAACCAGGGCGCCGGCGACCAAGGCA (p.Leu137delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet)
c.220_221insACAACCAGGGCGCCGGCGACCAAGGCA (p.Leu74delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet)
c.286_287insACAACCAGGGCGCCGGCGACCAAGGCA (p.Leu96delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet)
10g.80280313A>CCA377362890MAT1Ac.409T>G (p.Leu137Val)
c.220T>G (p.Leu74Val)
c.286T>G (p.Leu96Val)
10g.80280313A>GCA470468751MAT1Ac.409T>C (p.Leu137=)
c.220T>C (p.Leu74=)
c.286T>C (p.Leu96=)
10g.80280313A>TCA377362891MAT1Ac.409T>A (p.Leu137Met)
c.220T>A (p.Leu74Met)
c.286T>A (p.Leu96Met)
10g.80280313_80280314insCCTTGGTCTCCTGCCA2538858906MAT1Ac.408_409insGCAGGAGACCAAGG (p.Leu137AlafsTer6)
c.219_220insGCAGGAGACCAAGG (p.Leu74AlafsTer6)
c.285_286insGCAGGAGACCAAGG (p.Leu96AlafsTer6)
10g.80280313_80280314insGGGATCAGTGCGCTCTACGCCGCGGTTGATGTCGCCCA2504445136MAT1Ac.408_409insGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCC (p.Gly136_Leu137insGlyAspIleAsnArgGlyValGluArgThrAspPro)
c.219_220insGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCC (p.Gly73_Leu74insGlyAspIleAsnArgGlyValGluArgThrAspPro)
c.285_286insGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCC (p.Gly95_Leu96insGlyAspIleAsnArgGlyValGluArgThrAspPro)
10g.80280314A>CCA470468756MAT1Ac.408T>G (p.Gly136=)
c.219T>G (p.Gly73=)
c.285T>G (p.Gly95=)
10g.80280314A>GCA470468762MAT1Ac.408T>C (p.Gly136=)
c.219T>C (p.Gly73=)
c.285T>C (p.Gly95=)
10g.80280314A>TCA470468759MAT1Ac.408T>A (p.Gly136=)
c.219T>A (p.Gly73=)
c.285T>A (p.Gly95=)
10g.80280314_80280315insTGCCTTGGTCGCCGGCGCA2507548543MAT1Ac.407_408insCGCCGGCGACCAAGGCA (p.Leu137AlafsTer7)
c.218_219insCGCCGGCGACCAAGGCA (p.Leu74AlafsTer7)
c.284_285insCGCCGGCGACCAAGGCA (p.Leu96AlafsTer7)
10g.80280315C>ACA377362892MAT1Ac.407G>T (p.Gly136Val)
c.218G>T (p.Gly73Val)
c.284G>T (p.Gly95Val)
 dbSNP gnomAD v2 gnomAD v4
10g.80280315C=CA1922577938MAT1Ac.407G= (p.Gly136=)
c.218G= (p.Gly73=)
c.284G= (p.Gly95=)
10g.80280315C>GCA377362893MAT1Ac.407G>C (p.Gly136Ala)
c.218G>C (p.Gly73Ala)
c.284G>C (p.Gly95Ala)
10g.80280315C>TCA377362894MAT1Ac.407G>A (p.Gly136Asp)
c.218G>A (p.Gly73Asp)
c.284G>A (p.Gly95Asp)
10g.80280316C>ACA377362895MAT1Ac.406G>T (p.Gly136Cys)
c.217G>T (p.Gly73Cys)
c.283G>T (p.Gly95Cys)
10g.80280316C>GCA377362896MAT1Ac.406G>C (p.Gly136Arg)
c.217G>C (p.Gly73Arg)
c.283G>C (p.Gly95Arg)
10g.80280316C>TCA377362897MAT1Ac.406G>A (p.Gly136Ser)
c.217G>A (p.Gly73Ser)
c.283G>A (p.Gly95Ser)
10g.80280317C>ACA377362898MAT1Ac.406-1G>T (n.406-1G>T)
c.217-1G>T (n.217-1G>T)
c.283-1G>T (n.283-1G>T)
 dbSNP gnomAD v4
10g.80280317C=CA1922577939MAT1Ac.406-1G= (n.406-1G=)
c.217-1G= (n.217-1G=)
c.283-1G= (n.283-1G=)
10g.80280317C>GCA377362899MAT1Ac.406-1G>C (n.406-1G>C)
c.217-1G>C (n.217-1G>C)
c.283-1G>C (n.283-1G>C)
10g.80280317C>TCA377362900MAT1Ac.406-1G>A (n.406-1G>A)
c.217-1G>A (n.217-1G>A)
c.283-1G>A (n.283-1G>A)
 gnomAD v4
10g.80280318T>ACA210326982MAT1Ac.406-2A>T (n.406-2A>T)
c.217-2A>T (n.217-2A>T)
c.283-2A>T (n.283-2A>T)
 dbSNP
10g.80280318T>CCA377362902MAT1Ac.406-2A>G (n.406-2A>G)
c.217-2A>G (n.217-2A>G)
c.283-2A>G (n.283-2A>G)
10g.80280318T>GCA377362901MAT1Ac.406-2A>C (n.406-2A>C)
c.217-2A>C (n.217-2A>C)
c.283-2A>C (n.283-2A>C)
10g.80280318T=CA1922577940MAT1Ac.406-2A= (n.406-2A=)
c.217-2A= (n.217-2A=)
c.283-2A= (n.283-2A=)
10g.80280320_80280321insTCGTCCGTATCTTTATTGGAAACGCCTCTGTTTATATCATCGCTCTGCTCGTGAATAGCCGTGAGGATACCGCATGAATCACCGTCAAACTGATATTCAGTTTTTGTCA2506115610MAT1Ac.406-2_406-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA (n.406-2_406-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA)
c.217-2_217-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA (n.217-2_217-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA)
c.283-2_283-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA (n.283-2_283-1insAAAACTGAATATCAGTTTGACGGTGATTCATGCGGTATCCTCACGGCTATTCACGAGCAGAGCGATGATATAAACAGAGGCGTTTCCAATAAAGATACGGACGAACA)
10g.80280319G>ACA5576792MAT1Ac.406-3C>T (n.406-3C>T)
c.217-3C>T (n.217-3C>T)
c.283-3C>T (n.283-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280319G=CA1922577941MAT1Ac.406-3C= (n.406-3C=)
c.217-3C= (n.217-3C=)
c.283-3C= (n.283-3C=)
10g.80280319_80280320insCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTTCA2543222610MAT1Ac.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG (n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG)
c.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG (n.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG)
c.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG (n.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG)
10g.80280319_80280320insGTTGTAGGGGTCAGTGCGCTCTACGCCGCGGTTGATGTCGCCGCTCTGCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTTCA2564195220MAT1Ac.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC (n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC)
c.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC (n.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC)
c.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC (n.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGACCCCTACAAC)
10g.80280319_80280320insGTTGTAGGGATCAGTGCGCTCTACGCCGCGGTTGATGTCGCCGCTCTGCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTTCA2534550842MAT1Ac.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC (n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC)
c.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC (n.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC)
c.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC (n.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAGCAGAGCGGCGACATCAACCGCGGCGTAGAGCGCACTGATCCCTACAAC)
10g.80280320T>CCA1922577943MAT1Ac.406-4A>G (n.406-4A>G)
c.217-4A>G (n.217-4A>G)
c.283-4A>G (n.283-4A>G)
 dbSNP gnomAD v4
10g.80280320T=CA1922577942MAT1Ac.406-4A= (n.406-4A=)
c.217-4A= (n.217-4A=)
c.283-4A= (n.283-4A=)
10g.80280323C>ACA2609913863MAT1Ac.406-7G>T (n.406-7G>T)
c.217-7G>T (n.217-7G>T)
c.283-7G>T (n.283-7G>T)
 gnomAD v4
10g.80280323C=CA1922577944MAT1Ac.406-7G= (n.406-7G=)
c.217-7G= (n.217-7G=)
c.283-7G= (n.283-7G=)
10g.80280323C>TCA5576793MAT1Ac.406-7G>A (n.406-7G>A)
c.217-7G>A (n.217-7G>A)
c.283-7G>A (n.283-7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280324G>ACA5576794MAT1Ac.406-8C>T (n.406-8C>T)
c.217-8C>T (n.217-8C>T)
c.283-8C>T (n.283-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280324G>CCA2574456099MAT1Ac.406-8C>G (n.406-8C>G)
c.217-8C>G (n.217-8C>G)
c.283-8C>G (n.283-8C>G)
10g.80280324G=CA1922577945MAT1Ac.406-8C= (n.406-8C=)
c.217-8C= (n.217-8C=)
c.283-8C= (n.283-8C=)
10g.80280326G>ACA2574456101MAT1Ac.406-10C>T (n.406-10C>T)
c.217-10C>T (n.217-10C>T)
c.283-10C>T (n.283-10C>T)
10g.80280328G>ACA5576795MAT1Ac.406-12C>T (n.406-12C>T)
c.217-12C>T (n.217-12C>T)
c.283-12C>T (n.283-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280328G>CCA2609913864MAT1Ac.406-12C>G (n.406-12C>G)
c.217-12C>G (n.217-12C>G)
c.283-12C>G (n.283-12C>G)
 gnomAD v4
10g.80280328G=CA1922577946MAT1Ac.406-12C= (n.406-12C=)
c.217-12C= (n.217-12C=)
c.283-12C= (n.283-12C=)
10g.80280328G>TCA2609913865MAT1Ac.406-12C>A (n.406-12C>A)
c.217-12C>A (n.217-12C>A)
c.283-12C>A (n.283-12C>A)
 gnomAD v4
10g.80280329A=CA1922577947MAT1Ac.406-13T= (n.406-13T=)
c.217-13T= (n.217-13T=)
c.283-13T= (n.283-13T=)
10g.80280329A>GCA594462552MAT1Ac.406-13T>C (n.406-13T>C)
c.217-13T>C (n.217-13T>C)
c.283-13T>C (n.283-13T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.80280330G>ACA5576796MAT1Ac.406-14C>T (n.406-14C>T)
c.217-14C>T (n.217-14C>T)
c.283-14C>T (n.283-14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280330G=CA1922577948MAT1Ac.406-14C= (n.406-14C=)
c.217-14C= (n.217-14C=)
c.283-14C= (n.283-14C=)
10g.80280331C=CA1922577949MAT1Ac.406-15G= (n.406-15G=)
c.217-15G= (n.217-15G=)
c.283-15G= (n.283-15G=)
10g.80280331C>GCA5576797MAT1Ac.406-15G>C (n.406-15G>C)
c.217-15G>C (n.217-15G>C)
c.283-15G>C (n.283-15G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280331C>TCA668888607MAT1Ac.406-15G>A (n.406-15G>A)
c.217-15G>A (n.217-15G>A)
c.283-15G>A (n.283-15G>A)
 dbSNP gnomAD v4
10g.80280332A>GCA2609913867MAT1Ac.406-16T>C (n.406-16T>C)
c.217-16T>C (n.217-16T>C)
c.283-16T>C (n.283-16T>C)
 gnomAD v4
10g.80280334G=CA1922577950MAT1Ac.406-18C= (n.406-18C=)
c.217-18C= (n.217-18C=)
c.283-18C= (n.283-18C=)
10g.80280334G>TCA594462558MAT1Ac.406-18C>A (n.406-18C>A)
c.217-18C>A (n.217-18C>A)
c.283-18C>A (n.283-18C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.80280336T>ACA594462561MAT1Ac.406-20A>T (n.406-20A>T)
c.217-20A>T (n.217-20A>T)
c.283-20A>T (n.283-20A>T)
 dbSNP gnomAD v2 gnomAD v4
10g.80280336T>CCA594462566MAT1Ac.406-20A>G (n.406-20A>G)
c.217-20A>G (n.217-20A>G)
c.283-20A>G (n.283-20A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280336T=CA1922577951MAT1Ac.406-20A= (n.406-20A=)
c.217-20A= (n.217-20A=)
c.283-20A= (n.283-20A=)
10g.80280340C>ACA594462570MAT1Ac.406-24G>T (n.406-24G>T)
c.217-24G>T (n.217-24G>T)
c.283-24G>T (n.283-24G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.80280340C=CA1922577952MAT1Ac.406-24G= (n.406-24G=)
c.217-24G= (n.217-24G=)
c.283-24G= (n.283-24G=)
10g.80280340C>TCA5576798MAT1Ac.406-24G>A (n.406-24G>A)
c.217-24G>A (n.217-24G>A)
c.283-24G>A (n.283-24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280341G>ACA5576799MAT1Ac.406-25C>T (n.406-25C>T)
c.217-25C>T (n.217-25C>T)
c.283-25C>T (n.283-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280341G=CA1922577953MAT1Ac.406-25C= (n.406-25C=)
c.217-25C= (n.217-25C=)
c.283-25C= (n.283-25C=)
10g.80280342G>ACA2788703204MAT1Ac.406-26C>T (n.406-26C>T)
c.217-26C>T (n.217-26C>T)
c.283-26C>T (n.283-26C>T)
10g.80280343C>ACA2609913870MAT1Ac.406-27G>T (n.406-27G>T)
c.217-27G>T (n.217-27G>T)
c.283-27G>T (n.283-27G>T)
 gnomAD v4
10g.80280343C=CA1922577954MAT1Ac.406-27G= (n.406-27G=)
c.217-27G= (n.217-27G=)
c.283-27G= (n.283-27G=)
10g.80280343C>GCA5576800MAT1Ac.406-27G>C (n.406-27G>C)
c.217-27G>C (n.217-27G>C)
c.283-27G>C (n.283-27G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280343C>TCA1922577955MAT1Ac.406-27G>A (n.406-27G>A)
c.217-27G>A (n.217-27G>A)
c.283-27G>A (n.283-27G>A)
 dbSNP gnomAD v4
10g.80280344G>ACA5576801MAT1Ac.406-28C>T (n.406-28C>T)
c.217-28C>T (n.217-28C>T)
c.283-28C>T (n.283-28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280344G=CA1922577956MAT1Ac.406-28C= (n.406-28C=)
c.217-28C= (n.217-28C=)
c.283-28C= (n.283-28C=)
10g.80280344G>TCA2609913879MAT1Ac.406-28C>A (n.406-28C>A)
c.217-28C>A (n.217-28C>A)
c.283-28C>A (n.283-28C>A)
 gnomAD v4
10g.80280345C>TCA2609913882MAT1Ac.406-29G>A (n.406-29G>A)
c.217-29G>A (n.217-29G>A)
c.283-29G>A (n.283-29G>A)
 gnomAD v4
10g.80280346C>TCA2609913884MAT1Ac.406-30G>A (n.406-30G>A)
c.217-30G>A (n.217-30G>A)
c.283-30G>A (n.283-30G>A)
 gnomAD v4
10g.80280348A=CA1922577957MAT1Ac.406-32T= (n.406-32T=)
c.217-32T= (n.217-32T=)
c.283-32T= (n.283-32T=)
10g.80280348A>CCA210327046MAT1Ac.406-32T>G (n.406-32T>G)
c.217-32T>G (n.217-32T>G)
c.283-32T>G (n.283-32T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.80280348A>TCA5576802MAT1Ac.406-32T>A (n.406-32T>A)
c.217-32T>A (n.217-32T>A)
c.283-32T>A (n.283-32T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280349C>ACA594462906MAT1Ac.406-33G>T (n.406-33G>T)
c.217-33G>T (n.217-33G>T)
c.283-33G>T (n.283-33G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.80280349C=CA1922577958MAT1Ac.406-33G= (n.406-33G=)
c.217-33G= (n.217-33G=)
c.283-33G= (n.283-33G=)
10g.80280350C>ACA2574456109MAT1Ac.406-34G>T (n.406-34G>T)
c.217-34G>T (n.217-34G>T)
c.283-34G>T (n.283-34G>T)
 gnomAD v4
10g.80280351C=CA1922577959MAT1Ac.406-35G= (n.406-35G=)
c.217-35G= (n.217-35G=)
c.283-35G= (n.283-35G=)
10g.80280351C>GCA594462907MAT1Ac.406-35G>C (n.406-35G>C)
c.217-35G>C (n.217-35G>C)
c.283-35G>C (n.283-35G>C)
 dbSNP gnomAD v2
10g.80280354G>ACA2609913895MAT1Ac.406-38C>T (n.406-38C>T)
c.217-38C>T (n.217-38C>T)
c.283-38C>T (n.283-38C>T)
 gnomAD v4
10g.80280354G>CCA1922577961MAT1Ac.406-38C>G (n.406-38C>G)
c.217-38C>G (n.217-38C>G)
c.283-38C>G (n.283-38C>G)
 dbSNP gnomAD v4
10g.80280354G=CA1922577960MAT1Ac.406-38C= (n.406-38C=)
c.217-38C= (n.217-38C=)
c.283-38C= (n.283-38C=)
10g.80280354G>TCA2609913896MAT1Ac.406-38C>A (n.406-38C>A)
c.217-38C>A (n.217-38C>A)
c.283-38C>A (n.283-38C>A)
 gnomAD v4
10g.80280355A=CA1922577962MAT1Ac.406-39T= (n.406-39T=)
c.217-39T= (n.217-39T=)
c.283-39T= (n.283-39T=)
10g.80280355A>GCA210327048MAT1Ac.406-39T>C (n.406-39T>C)
c.217-39T>C (n.217-39T>C)
c.283-39T>C (n.283-39T>C)
 dbSNP gnomAD v4
10g.80280356C>ACA2609913903MAT1Ac.406-40G>T (n.406-40G>T)
c.217-40G>T (n.217-40G>T)
c.283-40G>T (n.283-40G>T)
 gnomAD v4
10g.80280357C>ACA594462908MAT1Ac.406-41G>T (n.406-41G>T)
c.217-41G>T (n.217-41G>T)
c.283-41G>T (n.283-41G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280357C=CA1922577964MAT1Ac.406-41G= (n.406-41G=)
c.217-41G= (n.217-41G=)
c.283-41G= (n.283-41G=)
10g.80280357C>TCA1922577963MAT1Ac.406-41G>A (n.406-41G>A)
c.217-41G>A (n.217-41G>A)
c.283-41G>A (n.283-41G>A)
 dbSNP gnomAD v4
10g.80280360G>ACA2609913906MAT1Ac.406-44C>T (n.406-44C>T)
c.217-44C>T (n.217-44C>T)
c.283-44C>T (n.283-44C>T)
 gnomAD v4
10g.80280361A>GCA2609913908MAT1Ac.406-45T>C (n.406-45T>C)
c.217-45T>C (n.217-45T>C)
c.283-45T>C (n.283-45T>C)
 gnomAD v4
10g.80280362G>ACA210327054MAT1Ac.406-46C>T (n.406-46C>T)
c.217-46C>T (n.217-46C>T)
c.283-46C>T (n.283-46C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280362G=CA1922577965MAT1Ac.406-46C= (n.406-46C=)
c.217-46C= (n.217-46C=)
c.283-46C= (n.283-46C=)
10g.80280362G>TCA2609913911MAT1Ac.406-46C>A (n.406-46C>A)
c.217-46C>A (n.217-46C>A)
c.283-46C>A (n.283-46C>A)
 gnomAD v4
10g.80280363G>ACA2574456115MAT1Ac.406-47C>T (n.406-47C>T)
c.217-47C>T (n.217-47C>T)
c.283-47C>T (n.283-47C>T)
 gnomAD v4
10g.80280363G=CA1922577966MAT1Ac.406-47C= (n.406-47C=)
c.217-47C= (n.217-47C=)
c.283-47C= (n.283-47C=)
10g.80280363G>TCA5576803MAT1Ac.406-47C>A (n.406-47C>A)
c.217-47C>A (n.217-47C>A)
c.283-47C>A (n.283-47C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280365C=CA1922577967MAT1Ac.406-49G= (n.406-49G=)
c.217-49G= (n.217-49G=)
c.283-49G= (n.283-49G=)
10g.80280365C>TCA5576804MAT1Ac.406-49G>A (n.406-49G>A)
c.217-49G>A (n.217-49G>A)
c.283-49G>A (n.283-49G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280366C>ACA2609913919MAT1Ac.406-50G>T (n.406-50G>T)
c.217-50G>T (n.217-50G>T)
c.283-50G>T (n.283-50G>T)
 gnomAD v4
10g.80280366C=CA1922577968MAT1Ac.406-50G= (n.406-50G=)
c.217-50G= (n.217-50G=)
c.283-50G= (n.283-50G=)
10g.80280366C>TCA594462909MAT1Ac.406-50G>A (n.406-50G>A)
c.217-50G>A (n.217-50G>A)
c.283-50G>A (n.283-50G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280367G>ACA5576805MAT1Ac.406-51C>T (n.406-51C>T)
c.217-51C>T (n.217-51C>T)
c.283-51C>T (n.283-51C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80280367G>CCA2580973171MAT1Ac.406-51C>G (n.406-51C>G)
c.217-51C>G (n.217-51C>G)
c.283-51C>G (n.283-51C>G)
10g.80280367G=CA1922577969MAT1Ac.406-51C= (n.406-51C=)
c.217-51C= (n.217-51C=)
c.283-51C= (n.283-51C=)
10g.80280367G>TCA2580973170MAT1Ac.406-51C>A (n.406-51C>A)
c.217-51C>A (n.217-51C>A)
c.283-51C>A (n.283-51C>A)
 gnomAD v4
10g.80280368C=CA1922577970MAT1Ac.406-52G= (n.406-52G=)
c.217-52G= (n.217-52G=)
c.283-52G= (n.283-52G=)
10g.80280368C>TCA5576806MAT1Ac.406-52G>A (n.406-52G>A)
c.217-52G>A (n.217-52G>A)
c.283-52G>A (n.283-52G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.80280369A>CCA2609913930MAT1Ac.406-53T>G (n.406-53T>G)
c.217-53T>G (n.217-53T>G)
c.283-53T>G (n.283-53T>G)
 gnomAD v4
10g.80280369A>GCA2609913931MAT1Ac.406-53T>C (n.406-53T>C)
c.217-53T>C (n.217-53T>C)
c.283-53T>C (n.283-53T>C)
 dbSNP gnomAD v4
10g.80280370G>ACA210327097MAT1Ac.406-54C>T (n.406-54C>T)
c.217-54C>T (n.217-54C>T)
c.283-54C>T (n.283-54C>T)
 dbSNP gnomAD v4
10g.80280370G>CCA668888655MAT1Ac.406-54C>G (n.406-54C>G)
c.217-54C>G (n.217-54C>G)
c.283-54C>G (n.283-54C>G)
 dbSNP gnomAD v4
10g.80280370G=CA1922577971MAT1Ac.406-54C= (n.406-54C=)
c.217-54C= (n.217-54C=)
c.283-54C= (n.283-54C=)
10g.80280370G>TCA2609913934MAT1Ac.406-54C>A (n.406-54C>A)
c.217-54C>A (n.217-54C>A)
c.283-54C>A (n.283-54C>A)
 gnomAD v4
10g.80280371C>ACA2609913941MAT1Ac.406-55G>T (n.406-55G>T)
c.217-55G>T (n.217-55G>T)
c.283-55G>T (n.283-55G>T)
 gnomAD v4
10g.80280371C=CA1922577972MAT1Ac.406-55G= (n.406-55G=)
c.217-55G= (n.217-55G=)
c.283-55G= (n.283-55G=)
10g.80280371C>GCA653620466MAT1Ac.406-55G>C (n.406-55G>C)
c.217-55G>C (n.217-55G>C)
c.283-55G>C (n.283-55G>C)
 gnomAD v4 COSMIC
10g.80280371C>TCA930360396MAT1Ac.406-55G>A (n.406-55G>A)
c.217-55G>A (n.217-55G>A)
c.283-55G>A (n.283-55G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.80280373C>ACA2609913944MAT1Ac.406-57G>T (n.406-57G>T)
c.217-57G>T (n.217-57G>T)
c.283-57G>T (n.283-57G>T)
 gnomAD v4
10g.80280373C>TCA2507312242MAT1Ac.406-57G>A (n.406-57G>A)
c.217-57G>A (n.217-57G>A)
c.283-57G>A (n.283-57G>A)
 gnomAD v4
10g.80280374delCA2517312244MAT1Ac.406-58del (n.406-58del)
c.217-58del (n.217-58del)
c.283-58del (n.283-58del)
10g.80280374T>CCA594462910MAT1Ac.406-58A>G (n.406-58A>G)
c.217-58A>G (n.217-58A>G)
c.283-58A>G (n.283-58A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80280374T=CA1922577973MAT1Ac.406-58A= (n.406-58A=)
c.217-58A= (n.217-58A=)
c.283-58A= (n.283-58A=)
10g.80280375C>ACA2609913950MAT1Ac.406-59G>T (n.406-59G>T)
c.217-59G>T (n.217-59G>T)
c.283-59G>T (n.283-59G>T)
 gnomAD v4
10g.80280376T>ACA2609913952MAT1Ac.406-60A>T (n.406-60A>T)
c.217-60A>T (n.217-60A>T)
c.283-60A>T (n.283-60A>T)
 gnomAD v4
10g.80280376T>CCA2609913953MAT1Ac.406-60A>G (n.406-60A>G)
c.217-60A>G (n.217-60A>G)
c.283-60A>G (n.283-60A>G)
 gnomAD v4
10g.80280377C>ACA2609913954MAT1Ac.406-61G>T (n.406-61G>T)
c.217-61G>T (n.217-61G>T)
c.283-61G>T (n.283-61G>T)
 gnomAD v4
10g.80280378C=CA1922577974MAT1Ac.406-62G= (n.406-62G=)
c.217-62G= (n.217-62G=)
c.283-62G= (n.283-62G=)
10g.80280378C>TCA930360407MAT1Ac.406-62G>A (n.406-62G>A)
c.217-62G>A (n.217-62G>A)
c.283-62G>A (n.283-62G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.80280379A>GCA2609913956MAT1Ac.406-63T>C (n.406-63T>C)
c.217-63T>C (n.217-63T>C)
c.283-63T>C (n.283-63T>C)
 gnomAD v4
10g.80280380A>GCA2574456175MAT1Ac.406-64T>C (n.406-64T>C)
c.217-64T>C (n.217-64T>C)
c.283-64T>C (n.283-64T>C)
 gnomAD v4
10g.80280381G=CA1922577975MAT1Ac.406-65C= (n.406-65C=)
c.217-65C= (n.217-65C=)
c.283-65C= (n.283-65C=)
10g.80280381G>TCA1922577976MAT1Ac.406-65C>A (n.406-65C>A)
c.217-65C>A (n.217-65C>A)
c.283-65C>A (n.283-65C>A)
 dbSNP gnomAD v4
10g.80280382C=CA1922577977MAT1Ac.406-66G= (n.406-66G=)
c.217-66G= (n.217-66G=)
c.283-66G= (n.283-66G=)
10g.80280382C>GCA2609913959MAT1Ac.406-66G>C (n.406-66G>C)
c.217-66G>C (n.217-66G>C)
c.283-66G>C (n.283-66G>C)
 gnomAD v4
10g.80280382C>TCA210327102MAT1Ac.406-66G>A (n.406-66G>A)
c.217-66G>A (n.217-66G>A)
c.283-66G>A (n.283-66G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.80280383C=CA1922577978MAT1Ac.406-67G= (n.406-67G=)
c.217-67G= (n.217-67G=)
c.283-67G= (n.283-67G=)
10g.80280383C>TCA930360419MAT1Ac.406-67G>A (n.406-67G>A)
c.217-67G>A (n.217-67G>A)
c.283-67G>A (n.283-67G>A)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched