Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.80273838G>A | CA5576592 | MAT1A | c.1131C>T (p.Tyr377=) n.363C>T n.643C>T c.1008C>T (p.Tyr336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80273838G>C | CA377360132 | MAT1A | c.1131C>G (p.Tyr377Ter) n.363C>G n.643C>G c.1008C>G (p.Tyr336Ter) | |
10 | g.80273838G= | CA1630848385 | MAT1A | c.1131C= (p.Tyr377=) n.363C= n.643C= c.1008C= (p.Tyr336=) | |
10 | g.80273838G>T | CA377360133 | MAT1A | c.1131C>A (p.Tyr377Ter) n.363C>A n.643C>A c.1008C>A (p.Tyr336Ter) | |
10 | g.80273839T>A | CA377360134 | MAT1A | c.1130A>T (p.Tyr377Phe) n.362A>T n.642A>T c.1007A>T (p.Tyr336Phe) | |
10 | g.80273839T>C | CA377360135 | MAT1A | c.1130A>G (p.Tyr377Cys) n.362A>G n.642A>G c.1007A>G (p.Tyr336Cys) | gnomAD v4 |
10 | g.80273839T>G | CA377360136 | MAT1A | c.1130A>C (p.Tyr377Ser) n.362A>C n.642A>C c.1007A>C (p.Tyr336Ser) | gnomAD v4 |
10 | g.80273840A= | CA1922577234 | MAT1A | c.1129T= (p.Tyr377=) n.361T= n.641T= c.1006T= (p.Tyr336=) | |
10 | g.80273840A>C | CA210320944 | MAT1A | c.1129T>G (p.Tyr377Asp) n.361T>G n.641T>G c.1006T>G (p.Tyr336Asp) | dbSNP gnomAD v4 |
10 | g.80273840A>G | CA377360137 | MAT1A | c.1129T>C (p.Tyr377His) n.361T>C n.641T>C c.1006T>C (p.Tyr336His) | |
10 | g.80273840A>T | CA377360138 | MAT1A | c.1129T>A (p.Tyr377Asn) n.361T>A n.641T>A c.1006T>A (p.Tyr336Asn) | gnomAD v4 |
10 | g.80273841G>A | CA5576593 | MAT1A | c.1128C>T (p.Cys376=) n.360C>T n.640C>T c.1005C>T (p.Cys335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80273841G>C | CA377360140 | MAT1A | c.1128C>G (p.Cys376Trp) n.360C>G n.640C>G c.1005C>G (p.Cys335Trp) | |
10 | g.80273841G= | CA1922577238 | MAT1A | c.1128C= (p.Cys376=) n.360C= n.640C= c.1005C= (p.Cys335=) | |
10 | g.80273841G>T | CA377360139 | MAT1A | c.1128C>A (p.Cys376Ter) n.360C>A n.640C>A c.1005C>A (p.Cys335Ter) | |
10 | g.80273842C>A | CA377360141 | MAT1A | c.1127G>T (p.Cys376Phe) n.359G>T n.639G>T c.1004G>T (p.Cys335Phe) | |
10 | g.80273842C>G | CA377360142 | MAT1A | c.1127G>C (p.Cys376Ser) n.359G>C n.639G>C c.1004G>C (p.Cys335Ser) | |
10 | g.80273842C>T | CA377360143 | MAT1A | c.1127G>A (p.Cys376Tyr) n.359G>A n.639G>A c.1004G>A (p.Cys335Tyr) | |
10 | g.80273843A>C | CA377360144 | MAT1A | c.1126T>G (p.Cys376Gly) n.358T>G n.638T>G c.1003T>G (p.Cys335Gly) | |
10 | g.80273843A>G | CA377360145 | MAT1A | c.1126T>C (p.Cys376Arg) n.358T>C n.638T>C c.1003T>C (p.Cys335Arg) | |
10 | g.80273843A>T | CA377360146 | MAT1A | c.1126T>A (p.Cys376Ser) n.358T>A n.638T>A c.1003T>A (p.Cys335Ser) | |
10 | g.80273844T>A | CA470467187 | MAT1A | c.1125A>T (p.Ala375=) n.357A>T n.637A>T c.1002A>T (p.Ala334=) | |
10 | g.80273844T>C | CA470467188 | MAT1A | c.1125A>G (p.Ala375=) n.357A>G n.637A>G c.1002A>G (p.Ala334=) | |
10 | g.80273844T>G | CA470467189 | MAT1A | c.1125A>C (p.Ala375=) n.357A>C n.637A>C c.1002A>C (p.Ala334=) | |
10 | g.80273845G>A | CA377360147 | MAT1A | c.1124C>T (p.Ala375Val) n.356C>T n.636C>T c.1001C>T (p.Ala334Val) | |
10 | g.80273845G>C | CA377360148 | MAT1A | c.1124C>G (p.Ala375Gly) n.356C>G n.636C>G c.1001C>G (p.Ala334Gly) | |
10 | g.80273845G>T | CA377360149 | MAT1A | c.1124C>A (p.Ala375Glu) n.356C>A n.636C>A c.1001C>A (p.Ala334Glu) | |
10 | g.80273846C>A | CA377360150 | MAT1A | c.1123G>T (p.Ala375Ser) n.355G>T n.635G>T c.1000G>T (p.Ala334Ser) | |
10 | g.80273846C= | CA1922577243 | MAT1A | c.1123G= (p.Ala375=) n.355G= n.635G= c.1000G= (p.Ala334=) | |
10 | g.80273846C>G | CA377360151 | MAT1A | c.1123G>C (p.Ala375Pro) n.355G>C n.635G>C c.1000G>C (p.Ala334Pro) | |
10 | g.80273846C>T | CA377360152 | MAT1A | c.1123G>A (p.Ala375Thr) n.355G>A n.635G>A c.1000G>A (p.Ala334Thr) | dbSNP gnomAD v4 |
10 | g.80273846_80273847del | CA2574454926 | MAT1A | c.1122_1123del (p.Ala375MetfsTer?) n.354_355del n.634_635del c.999_1000del (p.Ala334MetfsTer?) | gnomAD v4 |
10 | g.80273847T>A | CA470467190 | MAT1A | c.1122A>T (p.Thr374=) n.354A>T n.634A>T c.999A>T (p.Thr333=) | |
10 | g.80273847T>C | CA470467191 | MAT1A | c.1122A>G (p.Thr374=) n.354A>G n.634A>G c.999A>G (p.Thr333=) | |
10 | g.80273847T>G | CA470467192 | MAT1A | c.1122A>C (p.Thr374=) n.354A>C n.634A>C c.999A>C (p.Thr333=) | gnomAD v4 |
10 | g.80273848G>A | CA377360155 | MAT1A | c.1121C>T (p.Thr374Ile) n.353C>T n.633C>T c.998C>T (p.Thr333Ile) | |
10 | g.80273848G>C | CA377360153 | MAT1A | c.1121C>G (p.Thr374Arg) n.353C>G n.633C>G c.998C>G (p.Thr333Arg) | |
10 | g.80273848G>T | CA377360154 | MAT1A | c.1121C>A (p.Thr374Lys) n.353C>A n.633C>A c.998C>A (p.Thr333Lys) | |
10 | g.80273849T>A | CA377360156 | MAT1A | c.1120A>T (p.Thr374Ser) n.352A>T n.632A>T c.997A>T (p.Thr333Ser) | |
10 | g.80273849T>C | CA377360157 | MAT1A | c.1120A>G (p.Thr374Ala) n.352A>G n.632A>G c.997A>G (p.Thr333Ala) | |
10 | g.80273849T>G | CA377360158 | MAT1A | c.1120A>C (p.Thr374Pro) n.352A>C n.632A>C c.997A>C (p.Thr333Pro) | |
10 | g.80273850C>A | CA377360159 | MAT1A | c.1119G>T (p.Lys373Asn) n.351G>T n.631G>T c.996G>T (p.Lys332Asn) | gnomAD v4 |
10 | g.80273850C>G | CA377360160 | MAT1A | c.1119G>C (p.Lys373Asn) n.351G>C n.631G>C c.996G>C (p.Lys332Asn) | gnomAD v4 |
10 | g.80273850C>T | CA470467193 | MAT1A | c.1119G>A (p.Lys373=) n.351G>A n.631G>A c.996G>A (p.Lys332=) | COSMIC |
10 | g.80273851T>A | CA377360161 | MAT1A | c.1118A>T (p.Lys373Met) n.350A>T n.630A>T c.995A>T (p.Lys332Met) | |
10 | g.80273851T>C | CA377360162 | MAT1A | c.1118A>G (p.Lys373Arg) n.350A>G n.630A>G c.995A>G (p.Lys332Arg) | |
10 | g.80273851T>G | CA377360163 | MAT1A | c.1118A>C (p.Lys373Thr) n.350A>C n.630A>C c.995A>C (p.Lys332Thr) | |
10 | g.80273852T>A | CA377360164 | MAT1A | c.1117A>T (p.Lys373Ter) n.349A>T n.629A>T c.994A>T (p.Lys332Ter) | |
10 | g.80273852T>C | CA377360165 | MAT1A | c.1117A>G (p.Lys373Glu) n.349A>G n.629A>G c.994A>G (p.Lys332Glu) | |
10 | g.80273852T>G | CA377360166 | MAT1A | c.1117A>C (p.Lys373Gln) n.349A>C n.629A>C c.994A>C (p.Lys332Gln) | gnomAD v4 |