Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80273783A>CCA377360008MAT1Ac.1186T>G (p.Ter396Glu)
n.418T>G
n.698T>G
c.1063T>G (p.Ter355Glu)
10g.80273783A>GCA377360006MAT1Ac.1186T>C (p.Ter396Gln)
n.418T>C
n.698T>C
c.1063T>C (p.Ter355Gln)
10g.80273783A>TCA377360007MAT1Ac.1186T>A (p.Ter396Lys)
n.418T>A
n.698T>A
c.1063T>A (p.Ter355Lys)
10g.80273784A>CCA377360009MAT1Ac.1185T>G (p.Phe395Leu)
n.417T>G
n.697T>G
c.1062T>G (p.Phe354Leu)
10g.80273784A>GCA470467159MAT1Ac.1185T>C (p.Phe395=)
n.417T>C
n.697T>C
c.1062T>C (p.Phe354=)
10g.80273784A>TCA377360010MAT1Ac.1185T>A (p.Phe395Leu)
n.417T>A
n.697T>A
c.1062T>A (p.Phe354Leu)
10g.80273785A>CCA377360011MAT1Ac.1184T>G (p.Phe395Cys)
n.416T>G
n.696T>G
c.1061T>G (p.Phe354Cys)
10g.80273785A>GCA377360012MAT1Ac.1184T>C (p.Phe395Ser)
n.416T>C
n.696T>C
c.1061T>C (p.Phe354Ser)
10g.80273785A>TCA377360013MAT1Ac.1184T>A (p.Phe395Tyr)
n.416T>A
n.696T>A
c.1061T>A (p.Phe354Tyr)
10g.80273786A>CCA377360014MAT1Ac.1183T>G (p.Phe395Val)
n.415T>G
n.695T>G
c.1060T>G (p.Phe354Val)
10g.80273786A>GCA377360015MAT1Ac.1183T>C (p.Phe395Leu)
n.415T>C
n.695T>C
c.1060T>C (p.Phe354Leu)
10g.80273786A>TCA377360016MAT1Ac.1183T>A (p.Phe395Ile)
n.415T>A
n.695T>A
c.1060T>A (p.Phe354Ile)
gnomAD v4
10g.80273787T>ACA470467160MAT1Ac.1182A>T (p.Val394=)
n.414A>T
n.694A>T
c.1059A>T (p.Val353=)
10g.80273787T>CCA210320825MAT1Ac.1182A>G (p.Val394=)
n.414A>G
n.694A>G
c.1059A>G (p.Val353=)
dbSNP gnomAD v4
10g.80273787T>GCA470467161MAT1Ac.1182A>C (p.Val394=)
n.414A>C
n.694A>C
c.1059A>C (p.Val353=)
10g.80273787T=CA1922577145MAT1Ac.1182A= (p.Val394=)
n.414A=
n.694A=
c.1059A= (p.Val353=)
10g.80273788A=CA1922577150MAT1Ac.1181T= (p.Val394=)
n.413T=
n.693T=
c.1058T= (p.Val353=)
10g.80273788A>CCA377360017MAT1Ac.1181T>G (p.Val394Gly)
n.413T>G
n.693T>G
c.1058T>G (p.Val353Gly)
10g.80273788A>GCA377360018MAT1Ac.1181T>C (p.Val394Ala)
n.413T>C
n.693T>C
c.1058T>C (p.Val353Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80273788A>TCA377360019MAT1Ac.1181T>A (p.Val394Glu)
n.413T>A
n.693T>A
c.1058T>A (p.Val353Glu)
10g.80273789C>ACA377360022MAT1Ac.1180G>T (p.Val394Leu)
n.412G>T
n.692G>T
c.1057G>T (p.Val353Leu)
10g.80273789C>GCA377360021MAT1Ac.1180G>C (p.Val394Leu)
n.412G>C
n.692G>C
c.1057G>C (p.Val353Leu)
10g.80273789C>TCA377360020MAT1Ac.1180G>A (p.Val394Ile)
n.412G>A
n.692G>A
c.1057G>A (p.Val353Ile)
gnomAD v4
10g.80273790A>CCA470467162MAT1Ac.1179T>G (p.Leu393=)
n.411T>G
n.691T>G
c.1056T>G (p.Leu352=)
10g.80273790A>GCA470467164MAT1Ac.1179T>C (p.Leu393=)
n.411T>C
n.691T>C
c.1056T>C (p.Leu352=)
10g.80273790A>TCA470467163MAT1Ac.1179T>A (p.Leu393=)
n.411T>A
n.691T>A
c.1056T>A (p.Leu352=)
10g.80273791A=CA1922577153MAT1Ac.1178T= (p.Leu393=)
n.410T=
n.690T=
c.1055T= (p.Leu352=)
10g.80273791A>CCA377360025MAT1Ac.1178T>G (p.Leu393Arg)
n.410T>G
n.690T>G
c.1055T>G (p.Leu352Arg)
10g.80273791A>GCA377360023MAT1Ac.1178T>C (p.Leu393Pro)
n.410T>C
n.690T>C
c.1055T>C (p.Leu352Pro)
dbSNP gnomAD v4
10g.80273791A>TCA377360024MAT1Ac.1178T>A (p.Leu393His)
n.410T>A
n.690T>A
c.1055T>A (p.Leu352His)
10g.80273792G>ACA377360026MAT1Ac.1177C>T (p.Leu393Phe)
n.409C>T
n.689C>T
c.1054C>T (p.Leu352Phe)
10g.80273792G>CCA377360027MAT1Ac.1177C>G (p.Leu393Val)
n.409C>G
n.689C>G
c.1054C>G (p.Leu352Val)
10g.80273792G>TCA377360028MAT1Ac.1177C>A (p.Leu393Ile)
n.409C>A
n.689C>A
c.1054C>A (p.Leu352Ile)
10g.80273793C>ACA377360029MAT1Ac.1176G>T (p.Lys392Asn)
n.408G>T
n.688G>T
c.1053G>T (p.Lys351Asn)
gnomAD v4
10g.80273793C=CA1922577157MAT1Ac.1176G= (p.Lys392=)
n.408G=
n.688G=
c.1053G= (p.Lys351=)
10g.80273793C>GCA377360030MAT1Ac.1176G>C (p.Lys392Asn)
n.408G>C
n.688G>C
c.1053G>C (p.Lys351Asn)
10g.80273793C>TCA470467165MAT1Ac.1176G>A (p.Lys392=)
n.408G>A
n.688G>A
c.1053G>A (p.Lys351=)
dbSNP gnomAD v4
10g.80273794T>ACA377360031MAT1Ac.1175A>T (p.Lys392Met)
n.407A>T
n.687A>T
c.1052A>T (p.Lys351Met)
10g.80273794T>CCA377360032MAT1Ac.1175A>G (p.Lys392Arg)
n.407A>G
n.687A>G
c.1052A>G (p.Lys351Arg)
10g.80273794T>GCA377360033MAT1Ac.1175A>C (p.Lys392Thr)
n.407A>C
n.687A>C
c.1052A>C (p.Lys351Thr)
gnomAD v4
10g.80273795T>ACA377360034MAT1Ac.1174A>T (p.Lys392Ter)
n.406A>T
n.686A>T
c.1051A>T (p.Lys351Ter)
10g.80273795T>CCA377360035MAT1Ac.1174A>G (p.Lys392Glu)
n.406A>G
n.686A>G
c.1051A>G (p.Lys351Glu)
10g.80273795T>GCA377360036MAT1Ac.1174A>C (p.Lys392Gln)
n.406A>C
n.686A>C
c.1051A>C (p.Lys351Gln)
10g.80273796C>ACA377360038MAT1Ac.1173G>T (p.Arg391Ser)
n.405G>T
n.685G>T
c.1050G>T (p.Arg350Ser)
10g.80273796C>GCA377360037MAT1Ac.1173G>C (p.Arg391Ser)
n.405G>C
n.685G>C
c.1050G>C (p.Arg350Ser)
10g.80273796C>TCA470467166MAT1Ac.1173G>A (p.Arg391=)
n.405G>A
n.685G>A
c.1050G>A (p.Arg350=)
10g.80273797C>ACA377360039MAT1Ac.1172G>T (p.Arg391Met)
n.404G>T
n.684G>T
c.1049G>T (p.Arg350Met)
10g.80273797C=CA1922577161MAT1Ac.1172G= (p.Arg391=)
n.404G=
n.684G=
c.1049G= (p.Arg350=)
10g.80273797C>GCA377360040MAT1Ac.1172G>C (p.Arg391Thr)
n.404G>C
n.684G>C
c.1049G>C (p.Arg350Thr)
10g.80273797C>TCA210320826MAT1Ac.1172G>A (p.Arg391Lys)
n.404G>A
n.684G>A
c.1049G>A (p.Arg350Lys)
dbSNP
10g.80273798T>ACA377360041MAT1Ac.1171A>T (p.Arg391Trp)
n.403A>T
n.683A>T
c.1048A>T (p.Arg350Trp)
10g.80273798T>CCA377360042MAT1Ac.1171A>G (p.Arg391Gly)
n.403A>G
n.683A>G
c.1048A>G (p.Arg350Gly)
dbSNP
10g.80273798T>GCA470467167MAT1Ac.1171A>C (p.Arg391=)
n.403A>C
n.683A>C
c.1048A>C (p.Arg350=)
10g.80273798T=CA1922577163MAT1Ac.1171A= (p.Arg391=)
n.403A=
n.683A=
c.1048A= (p.Arg350=)
10g.80273799G>ACA470467170MAT1Ac.1170C>T (p.Pro390=)
n.402C>T
n.682C>T
c.1047C>T (p.Pro349=)
dbSNP gnomAD v3 gnomAD v4
10g.80273799G>CCA470467168MAT1Ac.1170C>G (p.Pro390=)
n.402C>G
n.682C>G
c.1047C>G (p.Pro349=)
10g.80273799G=CA1922577166MAT1Ac.1170C= (p.Pro390=)
n.402C=
n.682C=
c.1047C= (p.Pro349=)
10g.80273799G>TCA470467169MAT1Ac.1170C>A (p.Pro390=)
n.402C>A
n.682C>A
c.1047C>A (p.Pro349=)
10g.80273800G>ACA377360043MAT1Ac.1169C>T (p.Pro390Leu)
n.401C>T
n.681C>T
c.1046C>T (p.Pro349Leu)
10g.80273800G>CCA377360044MAT1Ac.1169C>G (p.Pro390Arg)
n.401C>G
n.681C>G
c.1046C>G (p.Pro349Arg)
10g.80273800G>TCA377360045MAT1Ac.1169C>A (p.Pro390His)
n.401C>A
n.681C>A
c.1046C>A (p.Pro349His)
ClinVar
10g.80273801G>ACA377360046MAT1Ac.1168C>T (p.Pro390Ser)
n.400C>T
n.680C>T
c.1045C>T (p.Pro349Ser)
10g.80273801G>CCA377360047MAT1Ac.1168C>G (p.Pro390Ala)
n.400C>G
n.680C>G
c.1045C>G (p.Pro349Ala)
10g.80273801G>TCA377360048MAT1Ac.1168C>A (p.Pro390Thr)
n.400C>A
n.680C>A
c.1045C>A (p.Pro349Thr)
10g.80273802A>CCA470467171MAT1Ac.1167T>G (p.Val389=)
n.399T>G
n.679T>G
c.1044T>G (p.Val348=)
10g.80273802A>GCA470467172MAT1Ac.1167T>C (p.Val389=)
n.399T>C
n.679T>C
c.1044T>C (p.Val348=)
10g.80273802A>TCA470467173MAT1Ac.1167T>A (p.Val389=)
n.399T>A
n.679T>A
c.1044T>A (p.Val348=)
10g.80273803A=CA1922577169MAT1Ac.1166T= (p.Val389=)
n.398T=
n.678T=
c.1043T= (p.Val348=)
10g.80273803A>CCA377360049MAT1Ac.1166T>G (p.Val389Gly)
n.398T>G
n.678T>G
c.1043T>G (p.Val348Gly)
10g.80273803A>GCA5576584MAT1Ac.1166T>C (p.Val389Ala)
n.398T>C
n.678T>C
c.1043T>C (p.Val348Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80273803A>TCA377360050MAT1Ac.1166T>A (p.Val389Asp)
n.398T>A
n.678T>A
c.1043T>A (p.Val348Asp)
10g.80273804C>ACA377360052MAT1Ac.1165G>T (p.Val389Phe)
n.397G>T
n.677G>T
c.1042G>T (p.Val348Phe)
gnomAD v4
10g.80273804C>GCA377360053MAT1Ac.1165G>C (p.Val389Leu)
n.397G>C
n.677G>C
c.1042G>C (p.Val348Leu)
COSMIC
10g.80273804C>TCA377360051MAT1Ac.1165G>A (p.Val389Ile)
n.397G>A
n.677G>A
c.1042G>A (p.Val348Ile)
10g.80273805C>ACA377360054MAT1Ac.1164G>T (p.Glu388Asp)
n.396G>T
n.676G>T
c.1041G>T (p.Glu347Asp)
10g.80273805C=CA1922577172MAT1Ac.1164G= (p.Glu388=)
n.396G=
n.676G=
c.1041G= (p.Glu347=)
10g.80273805C>GCA377360055MAT1Ac.1164G>C (p.Glu388Asp)
n.396G>C
n.676G>C
c.1041G>C (p.Glu347Asp)
10g.80273805C>TCA5576585MAT1Ac.1164G>A (p.Glu388=)
n.396G>A
n.676G>A
c.1041G>A (p.Glu347=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80273806T>ACA377360056MAT1Ac.1163A>T (p.Glu388Val)
n.395A>T
n.675A>T
c.1040A>T (p.Glu347Val)
gnomAD v4
10g.80273806T>CCA377360057MAT1Ac.1163A>G (p.Glu388Gly)
n.395A>G
n.675A>G
c.1040A>G (p.Glu347Gly)
10g.80273806T>GCA377360058MAT1Ac.1163A>C (p.Glu388Ala)
n.395A>C
n.675A>C
c.1040A>C (p.Glu347Ala)
10g.80273807C>ACA377360059MAT1Ac.1162G>T (p.Glu388Ter)
n.394G>T
n.674G>T
c.1039G>T (p.Glu347Ter)
10g.80273807C>GCA377360060MAT1Ac.1162G>C (p.Glu388Gln)
n.394G>C
n.674G>C
c.1039G>C (p.Glu347Gln)
10g.80273807C>TCA377360061MAT1Ac.1162G>A (p.Glu388Lys)
n.394G>A
n.674G>A
c.1039G>A (p.Glu347Lys)
10g.80273808C>ACA5576586MAT1Ac.1161G>T (p.Trp387Cys)
n.393G>T
n.673G>T
c.1038G>T (p.Trp346Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80273808C=CA1922577176MAT1Ac.1161G= (p.Trp387=)
n.393G=
n.673G=
c.1038G= (p.Trp346=)
10g.80273808C>GCA377360062MAT1Ac.1161G>C (p.Trp387Cys)
n.393G>C
n.673G>C
c.1038G>C (p.Trp346Cys)
10g.80273808C>TCA377360063MAT1Ac.1161G>A (p.Trp387Ter)
n.393G>A
n.673G>A
c.1038G>A (p.Trp346Ter)
10g.80273809C>ACA377360064MAT1Ac.1160G>T (p.Trp387Leu)
n.392G>T
n.672G>T
c.1037G>T (p.Trp346Leu)
10g.80273809C=CA1922577178MAT1Ac.1160G= (p.Trp387=)
n.392G=
n.672G=
c.1037G= (p.Trp346=)
10g.80273809C>GCA377360065MAT1Ac.1160G>C (p.Trp387Ser)
n.392G>C
n.672G>C
c.1037G>C (p.Trp346Ser)
COSMIC
10g.80273809C>TCA377360066MAT1Ac.1160G>A (p.Trp387Ter)
n.392G>A
n.672G>A
c.1037G>A (p.Trp346Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80273810A>CCA377360069MAT1Ac.1159T>G (p.Trp387Gly)
n.391T>G
n.671T>G
c.1036T>G (p.Trp346Gly)
10g.80273810A>GCA377360067MAT1Ac.1159T>C (p.Trp387Arg)
n.391T>C
n.671T>C
c.1036T>C (p.Trp346Arg)
gnomAD v4
10g.80273810A>TCA377360068MAT1Ac.1159T>A (p.Trp387Arg)
n.391T>A
n.671T>A
c.1036T>A (p.Trp346Arg)
10g.80273811T>ACA470467174MAT1Ac.1158A>T (p.Pro386=)
n.390A>T
n.670A>T
c.1035A>T (p.Pro345=)
10g.80273811T>CCA470467175MAT1Ac.1158A>G (p.Pro386=)
n.390A>G
n.670A>G
c.1035A>G (p.Pro345=)
dbSNP gnomAD v3 gnomAD v4
10g.80273811T>GCA470467176MAT1Ac.1158A>C (p.Pro386=)
n.390A>C
n.670A>C
c.1035A>C (p.Pro345=)
10g.80273811T=CA1922577183MAT1Ac.1158A= (p.Pro386=)
n.390A=
n.670A=
c.1035A= (p.Pro345=)
10g.80273812G>ACA377360070MAT1Ac.1157C>T (p.Pro386Leu)
n.389C>T
n.669C>T
c.1034C>T (p.Pro345Leu)
10g.80273812G>CCA377360071MAT1Ac.1157C>G (p.Pro386Arg)
n.389C>G
n.669C>G
c.1034C>G (p.Pro345Arg)
10g.80273812G>TCA377360072MAT1Ac.1157C>A (p.Pro386Gln)
n.389C>A
n.669C>A
c.1034C>A (p.Pro345Gln)
10g.80273813G>ACA377360073MAT1Ac.1156C>T (p.Pro386Ser)
n.388C>T
n.668C>T
c.1033C>T (p.Pro345Ser)
gnomAD v4
10g.80273813G>CCA377360074MAT1Ac.1156C>G (p.Pro386Ala)
n.388C>G
n.668C>G
c.1033C>G (p.Pro345Ala)
10g.80273813G>TCA377360075MAT1Ac.1156C>A (p.Pro386Thr)
n.388C>A
n.668C>A
c.1033C>A (p.Pro345Thr)
gnomAD v4
10g.80273814G>ACA470467177MAT1Ac.1155C>T (p.Phe385=)
n.387C>T
n.667C>T
c.1032C>T (p.Phe344=)
10g.80273814G>CCA377360076MAT1Ac.1155C>G (p.Phe385Leu)
n.387C>G
n.667C>G
c.1032C>G (p.Phe344Leu)
10g.80273814G>TCA377360077MAT1Ac.1155C>A (p.Phe385Leu)
n.387C>A
n.667C>A
c.1032C>A (p.Phe344Leu)
10g.80273815A=CA1922577187MAT1Ac.1154T= (p.Phe385=)
n.386T=
n.666T=
c.1031T= (p.Phe344=)
10g.80273815A>CCA377360078MAT1Ac.1154T>G (p.Phe385Cys)
n.386T>G
n.666T>G
c.1031T>G (p.Phe344Cys)
10g.80273815A>GCA5576587MAT1Ac.1154T>C (p.Phe385Ser)
n.386T>C
n.666T>C
c.1031T>C (p.Phe344Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80273815A>TCA377360079MAT1Ac.1154T>A (p.Phe385Tyr)
n.386T>A
n.666T>A
c.1031T>A (p.Phe344Tyr)
10g.80273816A>CCA377360082MAT1Ac.1153T>G (p.Phe385Val)
n.385T>G
n.665T>G
c.1030T>G (p.Phe344Val)
10g.80273816A>GCA377360081MAT1Ac.1153T>C (p.Phe385Leu)
n.385T>C
n.665T>C
c.1030T>C (p.Phe344Leu)
10g.80273816A>TCA377360080MAT1Ac.1153T>A (p.Phe385Ile)
n.385T>A
n.665T>A
c.1030T>A (p.Phe344Ile)
10g.80273817C>ACA377360083MAT1Ac.1152G>T (p.Glu384Asp)
n.384G>T
n.664G>T
c.1029G>T (p.Glu343Asp)
10g.80273817C=CA1922577189MAT1Ac.1152G= (p.Glu384=)
n.384G=
n.664G=
c.1029G= (p.Glu343=)
10g.80273817C>GCA377360084MAT1Ac.1152G>C (p.Glu384Asp)
n.384G>C
n.664G>C
c.1029G>C (p.Glu343Asp)
10g.80273817C>TCA5576588MAT1Ac.1152G>A (p.Glu384=)
n.384G>A
n.664G>A
c.1029G>A (p.Glu343=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80273818T>ACA377360085MAT1Ac.1151A>T (p.Glu384Val)
n.383A>T
n.663A>T
c.1028A>T (p.Glu343Val)
gnomAD v4
10g.80273818T>CCA377360086MAT1Ac.1151A>G (p.Glu384Gly)
n.383A>G
n.663A>G
c.1028A>G (p.Glu343Gly)
10g.80273818T>GCA377360087MAT1Ac.1151A>C (p.Glu384Ala)
n.383A>C
n.663A>C
c.1028A>C (p.Glu343Ala)
10g.80273819C>ACA377360088MAT1Ac.1150G>T (p.Glu384Ter)
n.382G>T
n.662G>T
c.1027G>T (p.Glu343Ter)
dbSNP
10g.80273819C=CA1922577192MAT1Ac.1150G= (p.Glu384=)
n.382G=
n.662G=
c.1027G= (p.Glu343=)
10g.80273819C>GCA5576589MAT1Ac.1150G>C (p.Glu384Gln)
n.382G>C
n.662G>C
c.1027G>C (p.Glu343Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80273819C>TCA377360089MAT1Ac.1150G>A (p.Glu384Lys)
n.382G>A
n.662G>A
c.1027G>A (p.Glu343Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80273820G>ACA210320905MAT1Ac.1149C>T (p.Ser383=)
n.381C>T
n.661C>T
c.1026C>T (p.Ser342=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.80273820G>CCA377360090MAT1Ac.1149C>G (p.Ser383Arg)
n.381C>G
n.661C>G
c.1026C>G (p.Ser342Arg)
gnomAD v4
10g.80273820G=CA1922577193MAT1Ac.1149C= (p.Ser383=)
n.381C=
n.661C=
c.1026C= (p.Ser342=)
10g.80273820G>TCA377360091MAT1Ac.1149C>A (p.Ser383Arg)
n.381C>A
n.661C>A
c.1026C>A (p.Ser342Arg)
gnomAD v4
10g.80273821C>ACA377360092MAT1Ac.1148G>T (p.Ser383Ile)
n.380G>T
n.660G>T
c.1025G>T (p.Ser342Ile)
10g.80273821C=CA1922577195MAT1Ac.1148G= (p.Ser383=)
n.380G=
n.660G=
c.1025G= (p.Ser342=)
10g.80273821C>GCA377360093MAT1Ac.1148G>C (p.Ser383Thr)
n.380G>C
n.660G>C
c.1025G>C (p.Ser342Thr)
10g.80273821C>TCA5576590MAT1Ac.1148G>A (p.Ser383Asn)
n.380G>A
n.660G>A
c.1025G>A (p.Ser342Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80273822T>ACA377360094MAT1Ac.1147A>T (p.Ser383Cys)
n.379A>T
n.659A>T
c.1024A>T (p.Ser342Cys)
10g.80273822T>CCA377360095MAT1Ac.1147A>G (p.Ser383Gly)
n.379A>G
n.659A>G
c.1024A>G (p.Ser342Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80273822T>GCA377360096MAT1Ac.1147A>C (p.Ser383Arg)
n.379A>C
n.659A>C
c.1024A>C (p.Ser342Arg)
dbSNP gnomAD v2 gnomAD v4
10g.80273822T=CA1922577198MAT1Ac.1147A= (p.Ser383=)
n.379A=
n.659A=
c.1024A= (p.Ser342=)
10g.80273823T>ACA377360097MAT1Ac.1146A>T (p.Arg382Ser)
n.378A>T
n.658A>T
c.1023A>T (p.Arg341Ser)
10g.80273823T>CCA470467178MAT1Ac.1146A>G (p.Arg382=)
n.378A>G
n.658A>G
c.1023A>G (p.Arg341=)
10g.80273823T>GCA377360098MAT1Ac.1146A>C (p.Arg382Ser)
n.378A>C
n.658A>C
c.1023A>C (p.Arg341Ser)
10g.80273824C>ACA377360101MAT1Ac.1145G>T (p.Arg382Ile)
n.377G>T
n.657G>T
c.1022G>T (p.Arg341Ile)
dbSNP gnomAD v4
10g.80273824C=CA1922577202MAT1Ac.1145G= (p.Arg382=)
n.377G=
n.657G=
c.1022G= (p.Arg341=)
10g.80273824C>GCA377360099MAT1Ac.1145G>C (p.Arg382Thr)
n.377G>C
n.657G>C
c.1022G>C (p.Arg341Thr)
10g.80273824C>TCA377360100MAT1Ac.1145G>A (p.Arg382Lys)
n.377G>A
n.657G>A
c.1022G>A (p.Arg341Lys)
10g.80273825T>ACA377360102MAT1Ac.1144A>T (p.Arg382Ter)
n.376A>T
n.656A>T
c.1021A>T (p.Arg341Ter)
10g.80273825T>CCA377360103MAT1Ac.1144A>G (p.Arg382Gly)
n.376A>G
n.656A>G
c.1021A>G (p.Arg341Gly)
10g.80273825T>GCA470467179MAT1Ac.1144A>C (p.Arg382=)
n.376A>C
n.656A>C
c.1021A>C (p.Arg341=)
10g.80273826T>ACA470467180MAT1Ac.1143A>T (p.Gly381=)
n.375A>T
n.655A>T
c.1020A>T (p.Gly340=)
10g.80273826T>CCA470467182MAT1Ac.1143A>G (p.Gly381=)
n.375A>G
n.655A>G
c.1020A>G (p.Gly340=)
10g.80273826T>GCA470467181MAT1Ac.1143A>C (p.Gly381=)
n.375A>C
n.655A>C
c.1020A>C (p.Gly340=)
10g.80273827C>ACA377360104MAT1Ac.1142G>T (p.Gly381Val)
n.374G>T
n.654G>T
c.1019G>T (p.Gly340Val)
dbSNP
10g.80273827C=CA1922577206MAT1Ac.1142G= (p.Gly381=)
n.374G=
n.654G=
c.1019G= (p.Gly340=)
10g.80273827C>GCA377360105MAT1Ac.1142G>C (p.Gly381Ala)
n.374G>C
n.654G>C
c.1019G>C (p.Gly340Ala)
10g.80273827C>TCA377360106MAT1Ac.1142G>A (p.Gly381Glu)
n.374G>A
n.654G>A
c.1019G>A (p.Gly340Glu)
gnomAD v4
10g.80273828C>ACA377360107MAT1Ac.1141G>T (p.Gly381Ter)
n.373G>T
n.653G>T
c.1018G>T (p.Gly340Ter)
10g.80273828C=CA1922577208MAT1Ac.1141G= (p.Gly381=)
n.373G=
n.653G=
c.1018G= (p.Gly340=)
10g.80273828C>GCA377360109MAT1Ac.1141G>C (p.Gly381Arg)
n.373G>C
n.653G>C
c.1018G>C (p.Gly340Arg)
10g.80273828C>TCA377360108MAT1Ac.1141G>A (p.Gly381Arg)
n.373G>A
n.653G>A
c.1018G>A (p.Gly340Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80273829G>ACA5576591MAT1Ac.1140C>T (p.Phe380=)
n.372C>T
n.652C>T
c.1017C>T (p.Phe339=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80273829G>CCA377360111MAT1Ac.1140C>G (p.Phe380Leu)
n.372C>G
n.652C>G
c.1017C>G (p.Phe339Leu)
10g.80273829G=CA1922577214MAT1Ac.1140C= (p.Phe380=)
n.372C=
n.652C=
c.1017C= (p.Phe339=)
10g.80273829G>TCA377360110MAT1Ac.1140C>A (p.Phe380Leu)
n.372C>A
n.652C>A
c.1017C>A (p.Phe339Leu)
10g.80273830A>CCA377360112MAT1Ac.1139T>G (p.Phe380Cys)
n.371T>G
n.651T>G
c.1016T>G (p.Phe339Cys)
10g.80273830A>GCA377360113MAT1Ac.1139T>C (p.Phe380Ser)
n.371T>C
n.651T>C
c.1016T>C (p.Phe339Ser)
10g.80273830A>TCA377360114MAT1Ac.1139T>A (p.Phe380Tyr)
n.371T>A
n.651T>A
c.1016T>A (p.Phe339Tyr)
10g.80273831A>CCA377360115MAT1Ac.1138T>G (p.Phe380Val)
n.370T>G
n.650T>G
c.1015T>G (p.Phe339Val)
10g.80273831A>GCA377360116MAT1Ac.1138T>C (p.Phe380Leu)
n.370T>C
n.650T>C
c.1015T>C (p.Phe339Leu)
10g.80273831A>TCA377360117MAT1Ac.1138T>A (p.Phe380Ile)
n.370T>A
n.650T>A
c.1015T>A (p.Phe339Ile)
10g.80273832A>CCA377360119MAT1Ac.1137T>G (p.His379Gln)
n.369T>G
n.649T>G
c.1014T>G (p.His338Gln)
10g.80273832A>GCA470467183MAT1Ac.1137T>C (p.His379=)
n.369T>C
n.649T>C
c.1014T>C (p.His338=)
10g.80273832A>TCA377360118MAT1Ac.1137T>A (p.His379Gln)
n.369T>A
n.649T>A
c.1014T>A (p.His338Gln)
10g.80273833T>ACA377360120MAT1Ac.1136A>T (p.His379Leu)
n.368A>T
n.648A>T
c.1013A>T (p.His338Leu)
10g.80273833T>CCA377360121MAT1Ac.1136A>G (p.His379Arg)
n.368A>G
n.648A>G
c.1013A>G (p.His338Arg)
10g.80273833T>GCA377360122MAT1Ac.1136A>C (p.His379Pro)
n.368A>C
n.648A>C
c.1013A>C (p.His338Pro)
10g.80273834G>ACA377360123MAT1Ac.1135C>T (p.His379Tyr)
n.367C>T
n.647C>T
c.1012C>T (p.His338Tyr)
gnomAD v4
10g.80273834G>CCA377360124MAT1Ac.1135C>G (p.His379Asp)
n.367C>G
n.647C>G
c.1012C>G (p.His338Asp)
dbSNP gnomAD v3 gnomAD v4
10g.80273834G=CA1922577219MAT1Ac.1135C= (p.His379=)
n.367C=
n.647C=
c.1012C= (p.His338=)
10g.80273834G>TCA377360125MAT1Ac.1135C>A (p.His379Asn)
n.367C>A
n.647C>A
c.1012C>A (p.His338Asn)
10g.80273835G>ACA470467186MAT1Ac.1134C>T (p.Gly378=)
n.366C>T
n.646C>T
c.1011C>T (p.Gly337=)
gnomAD v3 gnomAD v4 COSMIC
10g.80273835G>CCA470467184MAT1Ac.1134C>G (p.Gly378=)
n.366C>G
n.646C>G
c.1011C>G (p.Gly337=)
10g.80273835G>TCA470467185MAT1Ac.1134C>A (p.Gly378=)
n.366C>A
n.646C>A
c.1011C>A (p.Gly337=)
10g.80273836C>ACA377360128MAT1Ac.1133G>T (p.Gly378Val)
n.365G>T
n.645G>T
c.1010G>T (p.Gly337Val)
10g.80273836C>GCA377360126MAT1Ac.1133G>C (p.Gly378Ala)
n.365G>C
n.645G>C
c.1010G>C (p.Gly337Ala)
10g.80273836C>TCA377360127MAT1Ac.1133G>A (p.Gly378Asp)
n.365G>A
n.645G>A
c.1010G>A (p.Gly337Asp)
gnomAD v4
10g.80273837C>ACA377360129MAT1Ac.1132G>T (p.Gly378Cys)
n.364G>T
n.644G>T
c.1009G>T (p.Gly337Cys)
10g.80273837C=CA1922577224MAT1Ac.1132G= (p.Gly378=)
n.364G=
n.644G=
c.1009G= (p.Gly337=)
10g.80273837C>GCA377360130MAT1Ac.1132G>C (p.Gly378Arg)
n.364G>C
n.644G>C
c.1009G>C (p.Gly337Arg)
10g.80273837C>TCA377360131MAT1Ac.1132G>A (p.Gly378Ser)
n.364G>A
n.644G>A
c.1009G>A (p.Gly337Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80273838G>ACA5576592MAT1Ac.1131C>T (p.Tyr377=)
n.363C>T
n.643C>T
c.1008C>T (p.Tyr336=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80273838G>CCA377360132MAT1Ac.1131C>G (p.Tyr377Ter)
n.363C>G
n.643C>G
c.1008C>G (p.Tyr336Ter)
10g.80273838G=CA1630848385MAT1Ac.1131C= (p.Tyr377=)
n.363C=
n.643C=
c.1008C= (p.Tyr336=)
10g.80273838G>TCA377360133MAT1Ac.1131C>A (p.Tyr377Ter)
n.363C>A
n.643C>A
c.1008C>A (p.Tyr336Ter)
10g.80273839T>ACA377360134MAT1Ac.1130A>T (p.Tyr377Phe)
n.362A>T
n.642A>T
c.1007A>T (p.Tyr336Phe)
10g.80273839T>CCA377360135MAT1Ac.1130A>G (p.Tyr377Cys)
n.362A>G
n.642A>G
c.1007A>G (p.Tyr336Cys)
gnomAD v4
10g.80273839T>GCA377360136MAT1Ac.1130A>C (p.Tyr377Ser)
n.362A>C
n.642A>C
c.1007A>C (p.Tyr336Ser)
gnomAD v4
10g.80273840A=CA1922577234MAT1Ac.1129T= (p.Tyr377=)
n.361T=
n.641T=
c.1006T= (p.Tyr336=)
10g.80273840A>CCA210320944MAT1Ac.1129T>G (p.Tyr377Asp)
n.361T>G
n.641T>G
c.1006T>G (p.Tyr336Asp)
dbSNP gnomAD v4
10g.80273840A>GCA377360137MAT1Ac.1129T>C (p.Tyr377His)
n.361T>C
n.641T>C
c.1006T>C (p.Tyr336His)
10g.80273840A>TCA377360138MAT1Ac.1129T>A (p.Tyr377Asn)
n.361T>A
n.641T>A
c.1006T>A (p.Tyr336Asn)
gnomAD v4
10g.80273841G>ACA5576593MAT1Ac.1128C>T (p.Cys376=)
n.360C>T
n.640C>T
c.1005C>T (p.Cys335=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80273841G>CCA377360140MAT1Ac.1128C>G (p.Cys376Trp)
n.360C>G
n.640C>G
c.1005C>G (p.Cys335Trp)
10g.80273841G=CA1922577238MAT1Ac.1128C= (p.Cys376=)
n.360C=
n.640C=
c.1005C= (p.Cys335=)
10g.80273841G>TCA377360139MAT1Ac.1128C>A (p.Cys376Ter)
n.360C>A
n.640C>A
c.1005C>A (p.Cys335Ter)
10g.80273842C>ACA377360141MAT1Ac.1127G>T (p.Cys376Phe)
n.359G>T
n.639G>T
c.1004G>T (p.Cys335Phe)
10g.80273842C>GCA377360142MAT1Ac.1127G>C (p.Cys376Ser)
n.359G>C
n.639G>C
c.1004G>C (p.Cys335Ser)
10g.80273842C>TCA377360143MAT1Ac.1127G>A (p.Cys376Tyr)
n.359G>A
n.639G>A
c.1004G>A (p.Cys335Tyr)
10g.80273843A>CCA377360144MAT1Ac.1126T>G (p.Cys376Gly)
n.358T>G
n.638T>G
c.1003T>G (p.Cys335Gly)
10g.80273843A>GCA377360145MAT1Ac.1126T>C (p.Cys376Arg)
n.358T>C
n.638T>C
c.1003T>C (p.Cys335Arg)
10g.80273843A>TCA377360146MAT1Ac.1126T>A (p.Cys376Ser)
n.358T>A
n.638T>A
c.1003T>A (p.Cys335Ser)
10g.80273844T>ACA470467187MAT1Ac.1125A>T (p.Ala375=)
n.357A>T
n.637A>T
c.1002A>T (p.Ala334=)
10g.80273844T>CCA470467188MAT1Ac.1125A>G (p.Ala375=)
n.357A>G
n.637A>G
c.1002A>G (p.Ala334=)
10g.80273844T>GCA470467189MAT1Ac.1125A>C (p.Ala375=)
n.357A>C
n.637A>C
c.1002A>C (p.Ala334=)
10g.80273845G>ACA377360147MAT1Ac.1124C>T (p.Ala375Val)
n.356C>T
n.636C>T
c.1001C>T (p.Ala334Val)
10g.80273845G>CCA377360148MAT1Ac.1124C>G (p.Ala375Gly)
n.356C>G
n.636C>G
c.1001C>G (p.Ala334Gly)
10g.80273845G>TCA377360149MAT1Ac.1124C>A (p.Ala375Glu)
n.356C>A
n.636C>A
c.1001C>A (p.Ala334Glu)
10g.80273846C>ACA377360150MAT1Ac.1123G>T (p.Ala375Ser)
n.355G>T
n.635G>T
c.1000G>T (p.Ala334Ser)
10g.80273846C=CA1922577243MAT1Ac.1123G= (p.Ala375=)
n.355G=
n.635G=
c.1000G= (p.Ala334=)
10g.80273846C>GCA377360151MAT1Ac.1123G>C (p.Ala375Pro)
n.355G>C
n.635G>C
c.1000G>C (p.Ala334Pro)
10g.80273846C>TCA377360152MAT1Ac.1123G>A (p.Ala375Thr)
n.355G>A
n.635G>A
c.1000G>A (p.Ala334Thr)
dbSNP gnomAD v4
10g.80273846_80273847delCA2574454926MAT1Ac.1122_1123del (p.Ala375MetfsTer?)
n.354_355del
n.634_635del
c.999_1000del (p.Ala334MetfsTer?)
gnomAD v4
10g.80273847T>ACA470467190MAT1Ac.1122A>T (p.Thr374=)
n.354A>T
n.634A>T
c.999A>T (p.Thr333=)
10g.80273847T>CCA470467191MAT1Ac.1122A>G (p.Thr374=)
n.354A>G
n.634A>G
c.999A>G (p.Thr333=)
10g.80273847T>GCA470467192MAT1Ac.1122A>C (p.Thr374=)
n.354A>C
n.634A>C
c.999A>C (p.Thr333=)
gnomAD v4
10g.80273848G>ACA377360155MAT1Ac.1121C>T (p.Thr374Ile)
n.353C>T
n.633C>T
c.998C>T (p.Thr333Ile)
10g.80273848G>CCA377360153MAT1Ac.1121C>G (p.Thr374Arg)
n.353C>G
n.633C>G
c.998C>G (p.Thr333Arg)
10g.80273848G>TCA377360154MAT1Ac.1121C>A (p.Thr374Lys)
n.353C>A
n.633C>A
c.998C>A (p.Thr333Lys)
10g.80273849T>ACA377360156MAT1Ac.1120A>T (p.Thr374Ser)
n.352A>T
n.632A>T
c.997A>T (p.Thr333Ser)
10g.80273849T>CCA377360157MAT1Ac.1120A>G (p.Thr374Ala)
n.352A>G
n.632A>G
c.997A>G (p.Thr333Ala)
10g.80273849T>GCA377360158MAT1Ac.1120A>C (p.Thr374Pro)
n.352A>C
n.632A>C
c.997A>C (p.Thr333Pro)
10g.80273850C>ACA377360159MAT1Ac.1119G>T (p.Lys373Asn)
n.351G>T
n.631G>T
c.996G>T (p.Lys332Asn)
gnomAD v4
10g.80273850C>GCA377360160MAT1Ac.1119G>C (p.Lys373Asn)
n.351G>C
n.631G>C
c.996G>C (p.Lys332Asn)
gnomAD v4
10g.80273850C>TCA470467193MAT1Ac.1119G>A (p.Lys373=)
n.351G>A
n.631G>A
c.996G>A (p.Lys332=)
COSMIC
10g.80273851T>ACA377360161MAT1Ac.1118A>T (p.Lys373Met)
n.350A>T
n.630A>T
c.995A>T (p.Lys332Met)
10g.80273851T>CCA377360162MAT1Ac.1118A>G (p.Lys373Arg)
n.350A>G
n.630A>G
c.995A>G (p.Lys332Arg)
10g.80273851T>GCA377360163MAT1Ac.1118A>C (p.Lys373Thr)
n.350A>C
n.630A>C
c.995A>C (p.Lys332Thr)
10g.80273852T>ACA377360164MAT1Ac.1117A>T (p.Lys373Ter)
n.349A>T
n.629A>T
c.994A>T (p.Lys332Ter)
10g.80273852T>CCA377360165MAT1Ac.1117A>G (p.Lys373Glu)
n.349A>G
n.629A>G
c.994A>G (p.Lys332Glu)
10g.80273852T>GCA377360166MAT1Ac.1117A>C (p.Lys373Gln)
n.349A>C
n.629A>C
c.994A>C (p.Lys332Gln)
gnomAD v4
10g.80273853C>ACA377360167MAT1Ac.1116G>T (p.Gln372His)
n.348G>T
n.628G>T
c.993G>T (p.Gln331His)
10g.80273853C>GCA377360168MAT1Ac.1116G>C (p.Gln372His)
n.348G>C
n.628G>C
c.993G>C (p.Gln331His)
10g.80273853C>TCA470467194MAT1Ac.1116G>A (p.Gln372=)
n.348G>A
n.628G>A
c.993G>A (p.Gln331=)
gnomAD v4
10g.80273854T>ACA377360169MAT1Ac.1115A>T (p.Gln372Leu)
n.347A>T
n.627A>T
c.992A>T (p.Gln331Leu)
dbSNP gnomAD v3 gnomAD v4
10g.80273854T>CCA377360171MAT1Ac.1115A>G (p.Gln372Arg)
n.347A>G
n.627A>G
c.992A>G (p.Gln331Arg)
10g.80273854T>GCA377360170MAT1Ac.1115A>C (p.Gln372Pro)
n.347A>C
n.627A>C
c.992A>C (p.Gln331Pro)
10g.80273854T=CA1922577245MAT1Ac.1115A= (p.Gln372=)
n.347A=
n.627A=
c.992A= (p.Gln331=)
10g.80273855G>ACA377360172MAT1Ac.1114C>T (p.Gln372Ter)
n.346C>T
n.626C>T
c.991C>T (p.Gln331Ter)
10g.80273855G>CCA377360173MAT1Ac.1114C>G (p.Gln372Glu)
n.346C>G
n.626C>G
c.991C>G (p.Gln331Glu)
10g.80273855G>TCA377360174MAT1Ac.1114C>A (p.Gln372Lys)
n.346C>A
n.626C>A
c.991C>A (p.Gln331Lys)
10g.80273856G>ACA470467195MAT1Ac.1113C>T (p.Tyr371=)
n.345C>T
n.625C>T
c.990C>T (p.Tyr330=)
dbSNP gnomAD v3 gnomAD v4
10g.80273856G>CCA377360175MAT1Ac.1113C>G (p.Tyr371Ter)
n.345C>G
n.625C>G
c.990C>G (p.Tyr330Ter)
10g.80273856G=CA1922577248MAT1Ac.1113C= (p.Tyr371=)
n.345C=
n.625C=
c.990C= (p.Tyr330=)
10g.80273856G>TCA377360176MAT1Ac.1113C>A (p.Tyr371Ter)
n.345C>A
n.625C>A
c.990C>A (p.Tyr330Ter)
10g.80273857T>ACA377360177MAT1Ac.1112A>T (p.Tyr371Phe)
n.344A>T
n.624A>T
c.989A>T (p.Tyr330Phe)
10g.80273857T>CCA377360178MAT1Ac.1112A>G (p.Tyr371Cys)
n.344A>G
n.624A>G
c.989A>G (p.Tyr330Cys)
10g.80273857T>GCA377360179MAT1Ac.1112A>C (p.Tyr371Ser)
n.344A>C
n.624A>C
c.989A>C (p.Tyr330Ser)
10g.80273858A>CCA377360180MAT1Ac.1111T>G (p.Tyr371Asp)
n.343T>G
n.623T>G
c.988T>G (p.Tyr330Asp)
10g.80273858A>GCA377360181MAT1Ac.1111T>C (p.Tyr371His)
n.343T>C
n.623T>C
c.988T>C (p.Tyr330His)
10g.80273858A>TCA377360182MAT1Ac.1111T>A (p.Tyr371Asn)
n.343T>A
n.623T>A
c.988T>A (p.Tyr330Asn)
10g.80273859G>ACA470467196MAT1Ac.1110C>T (p.Ile370=)
n.342C>T
n.622C>T
c.987C>T (p.Ile329=)
10g.80273859G>CCA377360183MAT1Ac.1110C>G (p.Ile370Met)
n.342C>G
n.622C>G
c.987C>G (p.Ile329Met)
10g.80273859G>TCA470467197MAT1Ac.1110C>A (p.Ile370=)
n.342C>A
n.622C>A
c.987C>A (p.Ile329=)
10g.80273860A>CCA377360186MAT1Ac.1109T>G (p.Ile370Ser)
n.341T>G
n.621T>G
c.986T>G (p.Ile329Ser)
10g.80273860A>GCA377360184MAT1Ac.1109T>C (p.Ile370Thr)
n.341T>C
n.621T>C
c.986T>C (p.Ile329Thr)
gnomAD v4
10g.80273860A>TCA377360185MAT1Ac.1109T>A (p.Ile370Asn)
n.341T>A
n.621T>A
c.986T>A (p.Ile329Asn)
10g.80273861T>ACA377360187MAT1Ac.1108A>T (p.Ile370Phe)
n.340A>T
n.620A>T
c.985A>T (p.Ile329Phe)
10g.80273861T>CCA377360188MAT1Ac.1108A>G (p.Ile370Val)
n.340A>G
n.620A>G
c.985A>G (p.Ile329Val)
dbSNP gnomAD v2 gnomAD v4
10g.80273861T>GCA377360189MAT1Ac.1108A>C (p.Ile370Leu)
n.340A>C
n.620A>C
c.985A>C (p.Ile329Leu)
10g.80273861T=CA1922577251MAT1Ac.1108A= (p.Ile370=)
n.340A=
n.620A=
c.985A= (p.Ile329=)
10g.80273862G>ACA210320956MAT1Ac.1107C>T (p.Pro369=)
n.339C>T
n.619C>T
c.984C>T (p.Pro328=)
dbSNP COSMIC
10g.80273862G>CCA470467199MAT1Ac.1107C>G (p.Pro369=)
n.339C>G
n.619C>G
c.984C>G (p.Pro328=)
10g.80273862G=CA1922577255MAT1Ac.1107C= (p.Pro369=)
n.339C=
n.619C=
c.984C= (p.Pro328=)
10g.80273862G>TCA470467198MAT1Ac.1107C>A (p.Pro369=)
n.339C>A
n.619C>A
c.984C>A (p.Pro328=)
10g.80273863G>ACA377360190MAT1Ac.1106C>T (p.Pro369Leu)
n.338C>T
n.618C>T
c.983C>T (p.Pro328Leu)
10g.80273863G>CCA377360191MAT1Ac.1106C>G (p.Pro369Arg)
n.338C>G
n.618C>G
c.983C>G (p.Pro328Arg)
10g.80273863G>TCA377360192MAT1Ac.1106C>A (p.Pro369His)
n.338C>A
n.618C>A
c.983C>A (p.Pro328His)
gnomAD v4
10g.80273864G>ACA377360193MAT1Ac.1105C>T (p.Pro369Ser)
n.337C>T
n.617C>T
c.982C>T (p.Pro328Ser)
gnomAD v4 COSMIC
10g.80273864G>CCA377360194MAT1Ac.1105C>G (p.Pro369Ala)
n.337C>G
n.617C>G
c.982C>G (p.Pro328Ala)
10g.80273864G>TCA377360195MAT1Ac.1105C>A (p.Pro369Thr)
n.337C>A
n.617C>A
c.982C>A (p.Pro328Thr)
10g.80273865C>ACA377360196MAT1Ac.1104G>T (p.Lys368Asn)
n.336G>T
n.616G>T
c.981G>T (p.Lys327Asn)
dbSNP
10g.80273865C=CA1922577258MAT1Ac.1104G= (p.Lys368=)
n.336G=
n.616G=
c.981G= (p.Lys327=)
10g.80273865C>GCA377360197MAT1Ac.1104G>C (p.Lys368Asn)
n.336G>C
n.616G>C
c.981G>C (p.Lys327Asn)
10g.80273865C>TCA470467200MAT1Ac.1104G>A (p.Lys368=)
n.336G>A
n.616G>A
c.981G>A (p.Lys327=)
10g.80273866T>ACA377360200MAT1Ac.1103A>T (p.Lys368Met)
n.335A>T
n.615A>T
c.980A>T (p.Lys327Met)
10g.80273866T>CCA377360199MAT1Ac.1103A>G (p.Lys368Arg)
n.335A>G
n.615A>G
c.980A>G (p.Lys327Arg)
10g.80273866T>GCA377360198MAT1Ac.1103A>C (p.Lys368Thr)
n.335A>C
n.615A>C
c.980A>C (p.Lys327Thr)
gnomAD v4
10g.80273867T>ACA377360201MAT1Ac.1102A>T (p.Lys368Ter)
n.334A>T
n.614A>T
c.979A>T (p.Lys327Ter)
10g.80273867T>CCA377360202MAT1Ac.1102A>G (p.Lys368Glu)
n.334A>G
n.614A>G
c.979A>G (p.Lys327Glu)
10g.80273867T>GCA377360203MAT1Ac.1102A>C (p.Lys368Gln)
n.334A>C
n.614A>C
c.979A>C (p.Lys327Gln)
10g.80273868C>ACA377360204MAT1Ac.1101G>T (p.Lys367Asn)
n.333G>T
n.613G>T
c.978G>T (p.Lys326Asn)
10g.80273868C>GCA377360205MAT1Ac.1101G>C (p.Lys367Asn)
n.333G>C
n.613G>C
c.978G>C (p.Lys326Asn)
10g.80273868C>TCA470467201MAT1Ac.1101G>A (p.Lys367=)
n.333G>A
n.613G>A
c.978G>A (p.Lys326=)
gnomAD v4
10g.80273869T>ACA377360208MAT1Ac.1100A>T (p.Lys367Met)
n.332A>T
n.612A>T
c.977A>T (p.Lys326Met)
10g.80273869T>CCA377360207MAT1Ac.1100A>G (p.Lys367Arg)
n.332A>G
n.612A>G
c.977A>G (p.Lys326Arg)
10g.80273869T>GCA377360206MAT1Ac.1100A>C (p.Lys367Thr)
n.332A>C
n.612A>C
c.977A>C (p.Lys326Thr)
10g.80273870delCA2609912730MAT1Ac.1100del (p.Lys367ArgfsTer?)
n.332del
n.612del
c.977del (p.Lys326ArgfsTer?)
gnomAD v4
10g.80273870T>ACA377360209MAT1Ac.1099A>T (p.Lys367Ter)
n.331A>T
n.611A>T
c.976A>T (p.Lys326Ter)
10g.80273870T>CCA377360210MAT1Ac.1099A>G (p.Lys367Glu)
n.331A>G
n.611A>G
c.976A>G (p.Lys326Glu)
10g.80273870T>GCA377360211MAT1Ac.1099A>C (p.Lys367Gln)
n.331A>C
n.611A>C
c.976A>C (p.Lys326Gln)
10g.80273871C>ACA377360212MAT1Ac.1098G>T (p.Leu366Phe)
n.330G>T
n.610G>T
c.975G>T (p.Leu325Phe)
10g.80273871C=CA1922577262MAT1Ac.1098G= (p.Leu366=)
n.330G=
n.610G=
c.975G= (p.Leu325=)
10g.80273871C>GCA377360213MAT1Ac.1098G>C (p.Leu366Phe)
n.330G>C
n.610G>C
c.975G>C (p.Leu325Phe)
10g.80273871C>TCA5576594MAT1Ac.1098G>A (p.Leu366=)
n.330G>A
n.610G>A
c.975G>A (p.Leu325=)
dbSNP ExAC gnomAD v4
10g.80273872A>CCA377360214MAT1Ac.1097T>G (p.Leu366Trp)
n.329T>G
n.609T>G
c.974T>G (p.Leu325Trp)
10g.80273872A>GCA377360216MAT1Ac.1097T>C (p.Leu366Ser)
n.329T>C
n.609T>C
c.974T>C (p.Leu325Ser)
10g.80273872A>TCA377360215MAT1Ac.1097T>A (p.Leu366Ter)
n.329T>A
n.609T>A
c.974T>A (p.Leu325Ter)
10g.80273873A>CCA377360217MAT1Ac.1096T>G (p.Leu366Val)
n.328T>G
n.608T>G
c.973T>G (p.Leu325Val)
10g.80273873A>GCA470467202MAT1Ac.1096T>C (p.Leu366=)
n.328T>C
n.608T>C
c.973T>C (p.Leu325=)
10g.80273873A>TCA377360218MAT1Ac.1096T>A (p.Leu366Met)
n.328T>A
n.608T>A
c.973T>A (p.Leu325Met)
10g.80273874G>ACA470467203MAT1Ac.1095C>T (p.Asp365=)
n.327C>T
n.607C>T
c.972C>T (p.Asp324=)
10g.80273874G>CCA377360219MAT1Ac.1095C>G (p.Asp365Glu)
n.327C>G
n.607C>G
c.972C>G (p.Asp324Glu)
10g.80273874G>TCA377360220MAT1Ac.1095C>A (p.Asp365Glu)
n.327C>A
n.607C>A
c.972C>A (p.Asp324Glu)
gnomAD v4
10g.80273875T>ACA377360221MAT1Ac.1094A>T (p.Asp365Val)
n.326A>T
n.606A>T
c.971A>T (p.Asp324Val)
10g.80273875T>CCA377360222MAT1Ac.1094A>G (p.Asp365Gly)
n.326A>G
n.606A>G
c.971A>G (p.Asp324Gly)
gnomAD v4
10g.80273875T>GCA377360223MAT1Ac.1094A>C (p.Asp365Ala)
n.326A>C
n.606A>C
c.971A>C (p.Asp324Ala)
10g.80273876C>ACA377360224MAT1Ac.1093G>T (p.Asp365Tyr)
n.325G>T
n.605G>T
c.970G>T (p.Asp324Tyr)
gnomAD v4
10g.80273876C=CA1922577267MAT1Ac.1093G= (p.Asp365=)
n.325G=
n.605G=
c.970G= (p.Asp324=)
10g.80273876C>GCA377360225MAT1Ac.1093G>C (p.Asp365His)
n.325G>C
n.605G>C
c.970G>C (p.Asp324His)
10g.80273876C>TCA377360226MAT1Ac.1093G>A (p.Asp365Asn)
n.325G>A
n.605G>A
c.970G>A (p.Asp324Asn)
dbSNP gnomAD v2 gnomAD v4
10g.80273877C>ACA377360228MAT1Ac.1092G>T (p.Leu364Phe)
n.324G>T
n.604G>T
c.969G>T (p.Leu323Phe)
10g.80273877C=CA1922577269MAT1Ac.1092G= (p.Leu364=)
n.324G=
n.604G=
c.969G= (p.Leu323=)
10g.80273877C>GCA377360227MAT1Ac.1092G>C (p.Leu364Phe)
n.324G>C
n.604G>C
c.969G>C (p.Leu323Phe)
10g.80273877C>TCA5576595MAT1Ac.1092G>A (p.Leu364=)
n.324G>A
n.604G>A
c.969G>A (p.Leu323=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80273878A>CCA377360229MAT1Ac.1091T>G (p.Leu364Trp)
n.323T>G
n.603T>G
c.968T>G (p.Leu323Trp)
10g.80273878A>GCA377360231MAT1Ac.1091T>C (p.Leu364Ser)
n.323T>C
n.603T>C
c.968T>C (p.Leu323Ser)
10g.80273878A>TCA377360230MAT1Ac.1091T>A (p.Leu364Ter)
n.323T>A
n.603T>A
c.968T>A (p.Leu323Ter)
10g.80273879A>CCA377360232MAT1Ac.1090T>G (p.Leu364Val)
n.322T>G
n.602T>G
c.967T>G (p.Leu323Val)
COSMIC
10g.80273879A>GCA470467204MAT1Ac.1090T>C (p.Leu364=)
n.322T>C
n.602T>C
c.967T>C (p.Leu323=)
10g.80273879A>TCA377360233MAT1Ac.1090T>A (p.Leu364Met)
n.322T>A
n.602T>A
c.967T>A (p.Leu323Met)
gnomAD v4
10g.80273880A>CCA377360234MAT1Ac.1089T>G (p.Asp363Glu)
n.321T>G
n.601T>G
c.966T>G (p.Asp322Glu)
gnomAD v4
10g.80273880A>GCA470467205MAT1Ac.1089T>C (p.Asp363=)
n.321T>C
n.601T>C
c.966T>C (p.Asp322=)
10g.80273880A>TCA377360235MAT1Ac.1089T>A (p.Asp363Glu)
n.321T>A
n.601T>A
c.966T>A (p.Asp322Glu)
10g.80273881T>ACA377360236MAT1Ac.1088A>T (p.Asp363Val)
n.320A>T
n.600A>T
c.965A>T (p.Asp322Val)
10g.80273881T>CCA377360237MAT1Ac.1088A>G (p.Asp363Gly)
n.320A>G
n.600A>G
c.965A>G (p.Asp322Gly)
10g.80273881T>GCA377360238MAT1Ac.1088A>C (p.Asp363Ala)
n.320A>C
n.600A>C
c.965A>C (p.Asp322Ala)
10g.80273882C>ACA377360239MAT1Ac.1087G>T (p.Asp363Tyr)
n.319G>T
n.599G>T
c.964G>T (p.Asp322Tyr)
10g.80273882C>GCA377360240MAT1Ac.1087G>C (p.Asp363His)
n.319G>C
n.599G>C
c.964G>C (p.Asp322His)
10g.80273882C>TCA377360241MAT1Ac.1087G>A (p.Asp363Asn)
n.319G>A
n.599G>A
c.964G>A (p.Asp322Asn)
10g.80273883C>ACA377360242MAT1Ac.1086G>T (p.Arg362Ser)
n.318G>T
n.598G>T
c.963G>T (p.Arg321Ser)
gnomAD v4
10g.80273883C>GCA377360243MAT1Ac.1086G>C (p.Arg362Ser)
n.318G>C
n.598G>C
c.963G>C (p.Arg321Ser)
10g.80273883C>TCA470467206MAT1Ac.1086G>A (p.Arg362=)
n.318G>A
n.598G>A
c.963G>A (p.Arg321=)
gnomAD v4

Number of alleles fetched