Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched