| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.80274540G>A | CA5576623 | MAT1A | c.1065C>T (p.Leu355=) n.297C>T n.577C>T c.942C>T (p.Leu314=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80274540G>C | CA470467223 | MAT1A | c.1065C>G (p.Leu355=) n.297C>G n.577C>G c.942C>G (p.Leu314=) | |
| 10 | g.80274540G= | CA1922577858 | MAT1A | c.1065C= (p.Leu355=) n.297C= n.577C= c.942C= (p.Leu314=) | |
| 10 | g.80274540G>T | CA5576624 | MAT1A | c.1065C>A (p.Leu355=) n.297C>A n.577C>A c.942C>A (p.Leu314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274541A= | CA1922577861 | MAT1A | c.1064T= (p.Leu355=) n.296T= n.576T= c.941T= (p.Leu314=) | |
| 10 | g.80274541A>C | CA377360291 | MAT1A | c.1064T>G (p.Leu355Arg) n.296T>G n.576T>G c.941T>G (p.Leu314Arg) | |
| 10 | g.80274541A>G | CA377360292 | MAT1A | c.1064T>C (p.Leu355Pro) n.296T>C n.576T>C c.941T>C (p.Leu314Pro) | dbSNP gnomAD v4 |
| 10 | g.80274541A>T | CA377360293 | MAT1A | c.1064T>A (p.Leu355His) n.296T>A n.576T>A c.941T>A (p.Leu314His) | |
| 10 | g.80274542G>A | CA377360294 | MAT1A | c.1063C>T (p.Leu355Phe) n.295C>T n.575C>T c.940C>T (p.Leu314Phe) | |
| 10 | g.80274542G>C | CA377360295 | MAT1A | c.1063C>G (p.Leu355Val) n.295C>G n.575C>G c.940C>G (p.Leu314Val) | |
| 10 | g.80274542G>T | CA377360296 | MAT1A | c.1063C>A (p.Leu355Ile) n.295C>A n.575C>A c.940C>A (p.Leu314Ile) | |
| 10 | g.80274543G>A | CA470467224 | MAT1A | c.1062C>T (p.Asp354=) n.294C>T n.574C>T c.939C>T (p.Asp313=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80274543G>C | CA377360297 | MAT1A | c.1062C>G (p.Asp354Glu) n.294C>G n.574C>G c.939C>G (p.Asp313Glu) | |
| 10 | g.80274543G= | CA1922577862 | MAT1A | c.1062C= (p.Asp354=) n.294C= n.574C= c.939C= (p.Asp313=) | |
| 10 | g.80274543G>T | CA377360298 | MAT1A | c.1062C>A (p.Asp354Glu) n.294C>A n.574C>A c.939C>A (p.Asp313Glu) | |
| 10 | g.80274544T>A | CA377360300 | MAT1A | c.1061A>T (p.Asp354Val) n.293A>T n.573A>T c.938A>T (p.Asp313Val) | |
| 10 | g.80274544T>C | CA210321820 | MAT1A | c.1061A>G (p.Asp354Gly) n.293A>G n.573A>G c.938A>G (p.Asp313Gly) | dbSNP |
| 10 | g.80274544T>G | CA377360299 | MAT1A | c.1061A>C (p.Asp354Ala) n.293A>C n.573A>C c.938A>C (p.Asp313Ala) | |
| 10 | g.80274544T= | CA1922577864 | MAT1A | c.1061A= (p.Asp354=) n.293A= n.573A= c.938A= (p.Asp313=) | |
| 10 | g.80274545C>A | CA377360301 | MAT1A | c.1060G>T (p.Asp354Tyr) n.292G>T n.572G>T c.937G>T (p.Asp313Tyr) | |
| 10 | g.80274545C= | CA1922577866 | MAT1A | c.1060G= (p.Asp354=) n.292G= n.572G= c.937G= (p.Asp313=) | |
| 10 | g.80274545C>G | CA377360302 | MAT1A | c.1060G>C (p.Asp354His) n.292G>C n.572G>C c.937G>C (p.Asp313His) | |
| 10 | g.80274545C>T | CA377360303 | MAT1A | c.1060G>A (p.Asp354Asn) n.292G>A n.572G>A c.937G>A (p.Asp313Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80274546G>A | CA5576625 | MAT1A | c.1059C>T (p.Phe353=) n.291C>T n.571C>T c.936C>T (p.Phe312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274546G>C | CA377360304 | MAT1A | c.1059C>G (p.Phe353Leu) n.291C>G n.571C>G c.936C>G (p.Phe312Leu) | |
| 10 | g.80274546G= | CA1922577868 | MAT1A | c.1059C= (p.Phe353=) n.291C= n.571C= c.936C= (p.Phe312=) | |
| 10 | g.80274546G>T | CA377360305 | MAT1A | c.1059C>A (p.Phe353Leu) n.291C>A n.571C>A c.936C>A (p.Phe312Leu) | gnomAD v4 |
| 10 | g.80274547A>C | CA377360306 | MAT1A | c.1058T>G (p.Phe353Cys) n.290T>G n.570T>G c.935T>G (p.Phe312Cys) | |
| 10 | g.80274547A>G | CA377360307 | MAT1A | c.1058T>C (p.Phe353Ser) n.290T>C n.570T>C c.935T>C (p.Phe312Ser) | |
| 10 | g.80274547A>T | CA377360308 | MAT1A | c.1058T>A (p.Phe353Tyr) n.290T>A n.570T>A c.935T>A (p.Phe312Tyr) | |
| 10 | g.80274548A>C | CA377360309 | MAT1A | c.1057T>G (p.Phe353Val) n.289T>G n.569T>G c.934T>G (p.Phe312Val) | gnomAD v4 |
| 10 | g.80274548A>G | CA377360310 | MAT1A | c.1057T>C (p.Phe353Leu) n.289T>C n.569T>C c.934T>C (p.Phe312Leu) | |
| 10 | g.80274548A>T | CA377360311 | MAT1A | c.1057T>A (p.Phe353Ile) n.289T>A n.569T>A c.934T>A (p.Phe312Ile) | |
| 10 | g.80274549G>A | CA470467225 | MAT1A | c.1056C>T (p.Asn352=) n.288C>T n.568C>T c.933C>T (p.Asn311=) | |
| 10 | g.80274549G>C | CA377360312 | MAT1A | c.1056C>G (p.Asn352Lys) n.288C>G n.568C>G c.933C>G (p.Asn311Lys) | |
| 10 | g.80274549G>T | CA377360313 | MAT1A | c.1056C>A (p.Asn352Lys) n.288C>A n.568C>A c.933C>A (p.Asn311Lys) | |
| 10 | g.80274550T>A | CA377360314 | MAT1A | c.1055A>T (p.Asn352Ile) n.287A>T n.567A>T c.932A>T (p.Asn311Ile) | |
| 10 | g.80274550T>C | CA377360315 | MAT1A | c.1055A>G (p.Asn352Ser) n.287A>G n.567A>G c.932A>G (p.Asn311Ser) | |
| 10 | g.80274550T>G | CA377360316 | MAT1A | c.1055A>C (p.Asn352Thr) n.287A>C n.567A>C c.932A>C (p.Asn311Thr) | |
| 10 | g.80274551T>A | CA377360317 | MAT1A | c.1054A>T (p.Asn352Tyr) n.286A>T n.566A>T c.931A>T (p.Asn311Tyr) | |
| 10 | g.80274551T>C | CA377360318 | MAT1A | c.1054A>G (p.Asn352Asp) n.286A>G n.566A>G c.931A>G (p.Asn311Asp) | |
| 10 | g.80274551T>G | CA377360319 | MAT1A | c.1054A>C (p.Asn352His) n.286A>C n.566A>C c.931A>C (p.Asn311His) | |
| 10 | g.80274552C>A | CA377360320 | MAT1A | c.1053G>T (p.Lys351Asn) n.285G>T n.565G>T c.930G>T (p.Lys310Asn) | |
| 10 | g.80274552C>G | CA377360321 | MAT1A | c.1053G>C (p.Lys351Asn) n.285G>C n.565G>C c.930G>C (p.Lys310Asn) | |
| 10 | g.80274552C>T | CA470467226 | MAT1A | c.1053G>A (p.Lys351=) n.285G>A n.565G>A c.930G>A (p.Lys310=) | |
| 10 | g.80274553T>A | CA377360322 | MAT1A | c.1052A>T (p.Lys351Met) n.284A>T n.564A>T c.929A>T (p.Lys310Met) | |
| 10 | g.80274553T>C | CA377360323 | MAT1A | c.1052A>G (p.Lys351Arg) n.284A>G n.564A>G c.929A>G (p.Lys310Arg) | dbSNP |
| 10 | g.80274553T>G | CA377360324 | MAT1A | c.1052A>C (p.Lys351Thr) n.284A>C n.564A>C c.929A>C (p.Lys310Thr) | |
| 10 | g.80274553T= | CA1922577870 | MAT1A | c.1052A= (p.Lys351=) n.284A= n.564A= c.929A= (p.Lys310=) | |
| 10 | g.80274554T>A | CA377360325 | MAT1A | c.1051A>T (p.Lys351Ter) n.283A>T n.563A>T c.928A>T (p.Lys310Ter) | |
| 10 | g.80274554T>C | CA377360326 | MAT1A | c.1051A>G (p.Lys351Glu) n.283A>G n.563A>G c.928A>G (p.Lys310Glu) | |
| 10 | g.80274554T>G | CA377360327 | MAT1A | c.1051A>C (p.Lys351Gln) n.283A>C n.563A>C c.928A>C (p.Lys310Gln) | |
| 10 | g.80274555A>C | CA377360328 | MAT1A | c.1050T>G (p.His350Gln) n.282T>G n.562T>G c.927T>G (p.His309Gln) | |
| 10 | g.80274555A>G | CA470467227 | MAT1A | c.1050T>C (p.His350=) n.282T>C n.562T>C c.927T>C (p.His309=) | |
| 10 | g.80274555A>T | CA377360329 | MAT1A | c.1050T>A (p.His350Gln) n.282T>A n.562T>A c.927T>A (p.His309Gln) | |
| 10 | g.80274556T>A | CA377360330 | MAT1A | c.1049A>T (p.His350Leu) n.281A>T n.561A>T c.926A>T (p.His309Leu) | |
| 10 | g.80274556T>C | CA210321826 | MAT1A | c.1049A>G (p.His350Arg) n.281A>G n.561A>G c.926A>G (p.His309Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274556T>G | CA377360331 | MAT1A | c.1049A>C (p.His350Pro) n.281A>C n.561A>C c.926A>C (p.His309Pro) | |
| 10 | g.80274556T= | CA1922577872 | MAT1A | c.1049A= (p.His350=) n.281A= n.561A= c.926A= (p.His309=) | |
| 10 | g.80274557G>A | CA377360332 | MAT1A | c.1048C>T (p.His350Tyr) n.280C>T n.560C>T c.925C>T (p.His309Tyr) | |
| 10 | g.80274557G>C | CA377360333 | MAT1A | c.1048C>G (p.His350Asp) n.280C>G n.560C>G c.925C>G (p.His309Asp) | |
| 10 | g.80274557G>T | CA377360334 | MAT1A | c.1048C>A (p.His350Asn) n.280C>A n.560C>A c.925C>A (p.His309Asn) | |
| 10 | g.80274558C>A | CA470467228 | MAT1A | c.1047G>T (p.Val349=) n.279G>T n.559G>T c.924G>T (p.Val308=) | |
| 10 | g.80274558C>G | CA470467229 | MAT1A | c.1047G>C (p.Val349=) n.279G>C n.559G>C c.924G>C (p.Val308=) | |
| 10 | g.80274558C>T | CA470467230 | MAT1A | c.1047G>A (p.Val349=) n.279G>A n.559G>A c.924G>A (p.Val308=) | |
| 10 | g.80274559A>C | CA377360335 | MAT1A | c.1046T>G (p.Val349Gly) n.278T>G n.558T>G c.923T>G (p.Val308Gly) | |
| 10 | g.80274559A>G | CA377360336 | MAT1A | c.1046T>C (p.Val349Ala) n.278T>C n.558T>C c.923T>C (p.Val308Ala) | ClinVar |
| 10 | g.80274559A>T | CA377360337 | MAT1A | c.1046T>A (p.Val349Glu) n.278T>A n.558T>A c.923T>A (p.Val308Glu) | |
| 10 | g.80274560C>A | CA377360338 | MAT1A | c.1045G>T (p.Val349Leu) n.277G>T n.557G>T c.922G>T (p.Val308Leu) | |
| 10 | g.80274560C>G | CA377360339 | MAT1A | c.1045G>C (p.Val349Leu) n.277G>C n.557G>C c.922G>C (p.Val308Leu) | |
| 10 | g.80274560C>T | CA377360340 | MAT1A | c.1045G>A (p.Val349Met) n.277G>A n.557G>A c.922G>A (p.Val308Met) | |
| 10 | g.80274560_80274562delinsCCA | CA1922577874 | MAT1A | c.1043_1045delinsTGG (p.Val348=) n.275_277delinsTGG n.555_557delinsTGG c.920_922delinsTGG (p.Val307=) | |
| 10 | g.80274561C>A | CA470467231 | MAT1A | c.1044G>T (p.Val348=) n.276G>T n.556G>T c.921G>T (p.Val307=) | dbSNP |
| 10 | g.80274561C= | CA1922577876 | MAT1A | c.1044G= (p.Val348=) n.276G= n.556G= c.921G= (p.Val307=) | |
| 10 | g.80274561C>G | CA470467232 | MAT1A | c.1044G>C (p.Val348=) n.276G>C n.556G>C c.921G>C (p.Val307=) | gnomAD v4 |
| 10 | g.80274561C>T | CA470467233 | MAT1A | c.1044G>A (p.Val348=) n.276G>A n.556G>A c.921G>A (p.Val307=) | |
| 10 | g.80274563_80274564del | CA594460387 | MAT1A | c.1043_1044del (p.Val348GlyfsTer3) n.275_276del n.555_556del c.920_921del (p.Val307GlyfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274562A>C | CA377360342 | MAT1A | c.1043T>G (p.Val348Gly) n.275T>G n.555T>G c.920T>G (p.Val307Gly) | |
| 10 | g.80274562A>G | CA377360343 | MAT1A | c.1043T>C (p.Val348Ala) n.275T>C n.555T>C c.920T>C (p.Val307Ala) | |
| 10 | g.80274562A>T | CA377360341 | MAT1A | c.1043T>A (p.Val348Glu) n.275T>A n.555T>A c.920T>A (p.Val307Glu) | |
| 10 | g.80274562_80274563delinsAC | CA1922577877 | MAT1A | c.1042_1043delinsGT (p.Val348=) n.274_275delinsGT n.554_555delinsGT c.919_920delinsGT (p.Val307=) | |
| 10 | g.80274563del | CA668885027 | MAT1A | c.1042del (p.Val348TrpfsTer19) n.274del n.554del c.919del (p.Val307TrpfsTer19) | ClinVar dbSNP |
| 10 | g.80274563C>A | CA377360344 | MAT1A | c.1042G>T (p.Val348Leu) n.274G>T n.554G>T c.919G>T (p.Val307Leu) | gnomAD v4 |
| 10 | g.80274563C>G | CA377360345 | MAT1A | c.1042G>C (p.Val348Leu) n.274G>C n.554G>C c.919G>C (p.Val307Leu) | |
| 10 | g.80274563C>T | CA377360346 | MAT1A | c.1042G>A (p.Val348Met) n.274G>A n.554G>A c.919G>A (p.Val307Met) | gnomAD v4 |
| 10 | g.80274564A= | CA1922577879 | MAT1A | c.1041T= (p.Asp347=) n.273T= n.553T= c.918T= (p.Asp306=) | |
| 10 | g.80274564A>C | CA377360347 | MAT1A | c.1041T>G (p.Asp347Glu) n.273T>G n.553T>G c.918T>G (p.Asp306Glu) | gnomAD v4 |
| 10 | g.80274564A>G | CA470467234 | MAT1A | c.1041T>C (p.Asp347=) n.273T>C n.553T>C c.918T>C (p.Asp306=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80274564A>T | CA377360348 | MAT1A | c.1041T>A (p.Asp347Glu) n.273T>A n.553T>A c.918T>A (p.Asp306Glu) | |
| 10 | g.80274565T>A | CA377360349 | MAT1A | c.1040A>T (p.Asp347Val) n.272A>T n.552A>T c.917A>T (p.Asp306Val) | |
| 10 | g.80274565T>C | CA377360350 | MAT1A | c.1040A>G (p.Asp347Gly) n.272A>G n.552A>G c.917A>G (p.Asp306Gly) | |
| 10 | g.80274565T>G | CA377360351 | MAT1A | c.1040A>C (p.Asp347Ala) n.272A>C n.552A>C c.917A>C (p.Asp306Ala) | |
| 10 | g.80274566C>A | CA377360352 | MAT1A | c.1039G>T (p.Asp347Tyr) n.271G>T n.551G>T c.916G>T (p.Asp306Tyr) | |
| 10 | g.80274566C>G | CA377360353 | MAT1A | c.1039G>C (p.Asp347His) n.271G>C n.551G>C c.916G>C (p.Asp306His) | |
| 10 | g.80274566C>T | CA377360354 | MAT1A | c.1039G>A (p.Asp347Asn) n.271G>A n.551G>A c.916G>A (p.Asp306Asn) | |
| 10 | g.80274567C>A | CA470467236 | MAT1A | c.1038G>T (p.Leu346=) n.270G>T n.550G>T c.915G>T (p.Leu305=) | |
| 10 | g.80274567C>G | CA470467237 | MAT1A | c.1038G>C (p.Leu346=) n.270G>C n.550G>C c.915G>C (p.Leu305=) | |
| 10 | g.80274567C>T | CA470467235 | MAT1A | c.1038G>A (p.Leu346=) n.270G>A n.550G>A c.915G>A (p.Leu305=) | |
| 10 | g.80274568A>C | CA377360355 | MAT1A | c.1037T>G (p.Leu346Arg) n.269T>G n.549T>G c.914T>G (p.Leu305Arg) | |
| 10 | g.80274568A>G | CA377360356 | MAT1A | c.1037T>C (p.Leu346Pro) n.269T>C n.549T>C c.914T>C (p.Leu305Pro) | |
| 10 | g.80274568A>T | CA377360357 | MAT1A | c.1037T>A (p.Leu346Gln) n.269T>A n.549T>A c.914T>A (p.Leu305Gln) | |
| 10 | g.80274569G>A | CA470467238 | MAT1A | c.1036C>T (p.Leu346=) n.268C>T n.548C>T c.913C>T (p.Leu305=) | |
| 10 | g.80274569G>C | CA377360358 | MAT1A | c.1036C>G (p.Leu346Val) n.268C>G n.548C>G c.913C>G (p.Leu305Val) | |
| 10 | g.80274569G= | CA1922577881 | MAT1A | c.1036C= (p.Leu346=) n.268C= n.548C= c.913C= (p.Leu305=) | |
| 10 | g.80274569G>T | CA5576626 | MAT1A | c.1036C>A (p.Leu346Met) n.268C>A n.548C>A c.913C>A (p.Leu305Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274570C>A | CA210321842 | MAT1A | c.1035G>T (p.Leu345=) n.267G>T n.547G>T c.912G>T (p.Leu304=) | dbSNP |
| 10 | g.80274570C= | CA1922577883 | MAT1A | c.1035G= (p.Leu345=) n.267G= n.547G= c.912G= (p.Leu304=) | |
| 10 | g.80274570C>G | CA470467239 | MAT1A | c.1035G>C (p.Leu345=) n.267G>C n.547G>C c.912G>C (p.Leu304=) | |
| 10 | g.80274570C>T | CA470467240 | MAT1A | c.1035G>A (p.Leu345=) n.267G>A n.547G>A c.912G>A (p.Leu304=) | |
| 10 | g.80274571A>C | CA377360359 | MAT1A | c.1034T>G (p.Leu345Arg) n.266T>G n.546T>G c.911T>G (p.Leu304Arg) | |
| 10 | g.80274571A>G | CA377360360 | MAT1A | c.1034T>C (p.Leu345Pro) n.266T>C n.546T>C c.911T>C (p.Leu304Pro) | |
| 10 | g.80274571A>T | CA377360361 | MAT1A | c.1034T>A (p.Leu345Gln) n.266T>A n.546T>A c.911T>A (p.Leu304Gln) | |
| 10 | g.80274571_80274572insC | CA2695203381 | MAT1A | c.1033_1034insG (p.Leu345ArgfsTer7) n.265_266insG n.545_546insG c.910_911insG (p.Leu304ArgfsTer7) | |
| 10 | g.80274572G>A | CA470467241 | MAT1A | c.1033C>T (p.Leu345=) n.265C>T n.545C>T c.910C>T (p.Leu304=) | gnomAD v4 |
| 10 | g.80274572G>C | CA377360362 | MAT1A | c.1033C>G (p.Leu345Val) n.265C>G n.545C>G c.910C>G (p.Leu304Val) | |
| 10 | g.80274572G>T | CA377360363 | MAT1A | c.1033C>A (p.Leu345Met) n.265C>A n.545C>A c.910C>A (p.Leu304Met) | |
| 10 | g.80274573C>A | CA377360365 | MAT1A | c.1032G>T (p.Glu344Asp) n.264G>T n.544G>T c.909G>T (p.Glu303Asp) | |
| 10 | g.80274573C= | CA1922577885 | MAT1A | c.1032G= (p.Glu344=) n.264G= n.544G= c.909G= (p.Glu303=) | |
| 10 | g.80274573C>G | CA377360364 | MAT1A | c.1032G>C (p.Glu344Asp) n.264G>C n.544G>C c.909G>C (p.Glu303Asp) | |
| 10 | g.80274573C>T | CA5576627 | MAT1A | c.1032G>A (p.Glu344=) n.264G>A n.544G>A c.909G>A (p.Glu303=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274573dup | CA2574455133 | MAT1A | c.1032dup (p.Leu345AlafsTer7) n.264dup n.544dup c.909dup (p.Leu304AlafsTer7) | gnomAD v4 |
| 10 | g.80274574T>A | CA377360366 | MAT1A | c.1031A>T (p.Glu344Val) n.263A>T n.543A>T c.908A>T (p.Glu303Val) | |
| 10 | g.80274574T>C | CA377360367 | MAT1A | c.1031A>G (p.Glu344Gly) n.263A>G n.543A>G c.908A>G (p.Glu303Gly) | |
| 10 | g.80274574T>G | CA377360368 | MAT1A | c.1031A>C (p.Glu344Ala) n.263A>C n.543A>C c.908A>C (p.Glu303Ala) | |
| 10 | g.80274575C>A | CA377360369 | MAT1A | c.1030G>T (p.Glu344Ter) n.262G>T n.542G>T c.907G>T (p.Glu303Ter) | |
| 10 | g.80274575C= | CA1922577887 | MAT1A | c.1030G= (p.Glu344=) n.262G= n.542G= c.907G= (p.Glu303=) | |
| 10 | g.80274575C>G | CA377360370 | MAT1A | c.1030G>C (p.Glu344Gln) n.262G>C n.542G>C c.907G>C (p.Glu303Gln) | |
| 10 | g.80274575C>T | CA377360371 | MAT1A | c.1030G>A (p.Glu344Lys) n.262G>A n.542G>A c.907G>A (p.Glu303Lys) | dbSNP |
| 10 | g.80274576T>A | CA470467242 | MAT1A | c.1029A>T (p.Arg343=) n.261A>T n.541A>T c.906A>T (p.Arg302=) | |
| 10 | g.80274576T>C | CA470467243 | MAT1A | c.1029A>G (p.Arg343=) n.261A>G n.541A>G c.906A>G (p.Arg302=) | |
| 10 | g.80274576T>G | CA470467244 | MAT1A | c.1029A>C (p.Arg343=) n.261A>C n.541A>C c.906A>C (p.Arg302=) | |
| 10 | g.80274577C>A | CA377360372 | MAT1A | c.1028G>T (p.Arg343Leu) n.260G>T n.540G>T c.905G>T (p.Arg302Leu) | |
| 10 | g.80274577C= | CA1922577889 | MAT1A | c.1028G= (p.Arg343=) n.260G= n.540G= c.905G= (p.Arg302=) | |
| 10 | g.80274577C>G | CA377360373 | MAT1A | c.1028G>C (p.Arg343Pro) n.260G>C n.540G>C c.905G>C (p.Arg302Pro) | |
| 10 | g.80274577C>T | CA5576628 | MAT1A | c.1028G>A (p.Arg343Gln) n.260G>A n.540G>A c.905G>A (p.Arg302Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80274578G>A | CA377360374 | MAT1A | c.1027C>T (p.Arg343Ter) n.259C>T n.539C>T c.904C>T (p.Arg302Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80274578G>C | CA377360375 | MAT1A | c.1027C>G (p.Arg343Gly) n.259C>G n.539C>G c.904C>G (p.Arg302Gly) | |
| 10 | g.80274578G= | CA1922577891 | MAT1A | c.1027C= (p.Arg343=) n.259C= n.539C= c.904C= (p.Arg302=) | |
| 10 | g.80274578G>T | CA470467245 | MAT1A | c.1027C>A (p.Arg343=) n.259C>A n.539C>A c.904C>A (p.Arg302=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274579C>A | CA377360376 | MAT1A | c.1026G>T (p.Glu342Asp) n.258G>T n.538G>T c.903G>T (p.Glu301Asp) | |
| 10 | g.80274579C= | CA1922577892 | MAT1A | c.1026G= (p.Glu342=) n.258G= n.538G= c.903G= (p.Glu301=) | |
| 10 | g.80274579C>G | CA377360377 | MAT1A | c.1026G>C (p.Glu342Asp) n.258G>C n.538G>C c.903G>C (p.Glu301Asp) | |
| 10 | g.80274579C>T | CA5576629 | MAT1A | c.1026G>A (p.Glu342=) n.258G>A n.538G>A c.903G>A (p.Glu301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274580T>A | CA377360380 | MAT1A | c.1025A>T (p.Glu342Val) n.257A>T n.537A>T c.902A>T (p.Glu301Val) | |
| 10 | g.80274580T>C | CA377360379 | MAT1A | c.1025A>G (p.Glu342Gly) n.257A>G n.537A>G c.902A>G (p.Glu301Gly) | |
| 10 | g.80274580T>G | CA377360378 | MAT1A | c.1025A>C (p.Glu342Ala) n.257A>C n.537A>C c.902A>C (p.Glu301Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274580T= | CA1922577894 | MAT1A | c.1025A= (p.Glu342=) n.257A= n.537A= c.902A= (p.Glu301=) | |
| 10 | g.80274581C>A | CA377360381 | MAT1A | c.1024G>T (p.Glu342Ter) n.256G>T n.536G>T c.901G>T (p.Glu301Ter) | gnomAD v4 |
| 10 | g.80274581C= | CA1922577895 | MAT1A | c.1024G= (p.Glu342=) n.256G= n.536G= c.901G= (p.Glu301=) | |
| 10 | g.80274581C>G | CA5576630 | MAT1A | c.1024G>C (p.Glu342Gln) n.256G>C n.536G>C c.901G>C (p.Glu301Gln) | dbSNP ExAC gnomAD v2 |
| 10 | g.80274581C>T | CA377360382 | MAT1A | c.1024G>A (p.Glu342Lys) n.256G>A n.536G>A c.901G>A (p.Glu301Lys) | gnomAD v4 |
| 10 | g.80274582T>A | CA470467246 | MAT1A | c.1023A>T (p.Thr341=) n.255A>T n.535A>T c.900A>T (p.Thr300=) | |
| 10 | g.80274582T>C | CA470467247 | MAT1A | c.1023A>G (p.Thr341=) n.255A>G n.535A>G c.900A>G (p.Thr300=) | |
| 10 | g.80274582T>G | CA470467248 | MAT1A | c.1023A>C (p.Thr341=) n.255A>C n.535A>C c.900A>C (p.Thr300=) | |
| 10 | g.80274583G>A | CA5576631 | MAT1A | c.1022C>T (p.Thr341Ile) n.254C>T n.534C>T c.899C>T (p.Thr300Ile) | dbSNP ExAC gnomAD v2 |
| 10 | g.80274583G>C | CA377360383 | MAT1A | c.1022C>G (p.Thr341Arg) n.254C>G n.534C>G c.899C>G (p.Thr300Arg) | |
| 10 | g.80274583G= | CA1922577898 | MAT1A | c.1022C= (p.Thr341=) n.254C= n.534C= c.899C= (p.Thr300=) | |
| 10 | g.80274583G>T | CA377360384 | MAT1A | c.1022C>A (p.Thr341Lys) n.254C>A n.534C>A c.899C>A (p.Thr300Lys) | COSMIC |
| 10 | g.80274584T>A | CA377360385 | MAT1A | c.1021A>T (p.Thr341Ser) n.253A>T n.533A>T c.898A>T (p.Thr300Ser) | |
| 10 | g.80274584T>C | CA5576632 | MAT1A | c.1021A>G (p.Thr341Ala) n.253A>G n.533A>G c.898A>G (p.Thr300Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274584T>G | CA377360386 | MAT1A | c.1021A>C (p.Thr341Pro) n.253A>C n.533A>C c.898A>C (p.Thr300Pro) | |
| 10 | g.80274584T= | CA1922577899 | MAT1A | c.1021A= (p.Thr341=) n.253A= n.533A= c.898A= (p.Thr300=) | |
| 10 | g.80274585C>A | CA377360387 | MAT1A | c.1020G>T (p.Lys340Asn) n.252G>T n.532G>T c.897G>T (p.Lys299Asn) | |
| 10 | g.80274585C>G | CA377360388 | MAT1A | c.1020G>C (p.Lys340Asn) n.252G>C n.532G>C c.897G>C (p.Lys299Asn) | |
| 10 | g.80274585C>T | CA470467249 | MAT1A | c.1020G>A (p.Lys340=) n.252G>A n.532G>A c.897G>A (p.Lys299=) | |
| 10 | g.80274586T>A | CA377360389 | MAT1A | c.1019A>T (p.Lys340Met) n.251A>T n.531A>T c.896A>T (p.Lys299Met) | |
| 10 | g.80274586T>C | CA377360390 | MAT1A | c.1019A>G (p.Lys340Arg) n.251A>G n.531A>G c.896A>G (p.Lys299Arg) | |
| 10 | g.80274586T>G | CA377360391 | MAT1A | c.1019A>C (p.Lys340Thr) n.251A>C n.531A>C c.896A>C (p.Lys299Thr) | dbSNP |
| 10 | g.80274586T= | CA1922577901 | MAT1A | c.1019A= (p.Lys340=) n.251A= n.531A= c.896A= (p.Lys299=) | |
| 10 | g.80274587T>A | CA5576633 | MAT1A | c.1018A>T (p.Lys340Ter) n.250A>T n.530A>T c.895A>T (p.Lys299Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274587T>C | CA377360392 | MAT1A | c.1018A>G (p.Lys340Glu) n.250A>G n.530A>G c.895A>G (p.Lys299Glu) | |
| 10 | g.80274587T>G | CA377360393 | MAT1A | c.1018A>C (p.Lys340Gln) n.250A>C n.530A>C c.895A>C (p.Lys299Gln) | |
| 10 | g.80274587T= | CA1922577903 | MAT1A | c.1018A= (p.Lys340=) n.250A= n.530A= c.895A= (p.Lys299=) | |
| 10 | g.80274588C>A | CA377360394 | MAT1A | c.1017G>T (p.Gln339His) n.249G>T n.529G>T c.894G>T (p.Gln298His) | |
| 10 | g.80274588C= | CA1922577904 | MAT1A | c.1017G= (p.Gln339=) n.249G= n.529G= c.894G= (p.Gln298=) | |
| 10 | g.80274588C>G | CA377360395 | MAT1A | c.1017G>C (p.Gln339His) n.249G>C n.529G>C c.894G>C (p.Gln298His) | |
| 10 | g.80274588C>T | CA5576634 | MAT1A | c.1017G>A (p.Gln339=) n.249G>A n.529G>A c.894G>A (p.Gln298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274589T>A | CA377360398 | MAT1A | c.1016A>T (p.Gln339Leu) n.248A>T n.528A>T c.893A>T (p.Gln298Leu) | |
| 10 | g.80274589T>C | CA377360397 | MAT1A | c.1016A>G (p.Gln339Arg) n.248A>G n.528A>G c.893A>G (p.Gln298Arg) | |
| 10 | g.80274589T>G | CA377360396 | MAT1A | c.1016A>C (p.Gln339Pro) n.248A>C n.528A>C c.893A>C (p.Gln298Pro) | dbSNP gnomAD v4 |
| 10 | g.80274589T= | CA1922577906 | MAT1A | c.1016A= (p.Gln339=) n.248A= n.528A= c.893A= (p.Gln298=) | |
| 10 | g.80274590G>A | CA377360399 | MAT1A | c.1015C>T (p.Gln339Ter) n.247C>T n.527C>T c.892C>T (p.Gln298Ter) | |
| 10 | g.80274590G>C | CA377360401 | MAT1A | c.1015C>G (p.Gln339Glu) n.247C>G n.527C>G c.892C>G (p.Gln298Glu) | |
| 10 | g.80274590G>T | CA377360400 | MAT1A | c.1015C>A (p.Gln339Lys) n.247C>A n.527C>A c.892C>A (p.Gln298Lys) | gnomAD v4 |
| 10 | g.80274591A>C | CA470467252 | MAT1A | c.1014T>G (p.Ser338=) n.246T>G n.526T>G c.891T>G (p.Ser297=) | |
| 10 | g.80274591A>G | CA470467251 | MAT1A | c.1014T>C (p.Ser338=) n.246T>C n.526T>C c.891T>C (p.Ser297=) | |
| 10 | g.80274591A>T | CA470467250 | MAT1A | c.1014T>A (p.Ser338=) n.246T>A n.526T>A c.891T>A (p.Ser297=) | |
| 10 | g.80274592G>A | CA377360402 | MAT1A | c.1013C>T (p.Ser338Phe) n.245C>T n.525C>T c.890C>T (p.Ser297Phe) | |
| 10 | g.80274592G>C | CA377360404 | MAT1A | c.1013C>G (p.Ser338Cys) n.245C>G n.525C>G c.890C>G (p.Ser297Cys) | |
| 10 | g.80274592G>T | CA377360403 | MAT1A | c.1013C>A (p.Ser338Tyr) n.245C>A n.525C>A c.890C>A (p.Ser297Tyr) | |
| 10 | g.80274593A>C | CA377360405 | MAT1A | c.1012T>G (p.Ser338Ala) n.244T>G n.524T>G c.889T>G (p.Ser297Ala) | |
| 10 | g.80274593A>G | CA377360407 | MAT1A | c.1012T>C (p.Ser338Pro) n.244T>C n.524T>C c.889T>C (p.Ser297Pro) | |
| 10 | g.80274593A>T | CA377360406 | MAT1A | c.1012T>A (p.Ser338Thr) n.244T>A n.524T>A c.889T>A (p.Ser297Thr) | |
| 10 | g.80274594G>A | CA470467253 | MAT1A | c.1011C>T (p.Thr337=) n.243C>T n.523C>T c.888C>T (p.Thr296=) | |
| 10 | g.80274594G>C | CA470467255 | MAT1A | c.1011C>G (p.Thr337=) n.243C>G n.523C>G c.888C>G (p.Thr296=) | gnomAD v4 |
| 10 | g.80274594G>T | CA470467254 | MAT1A | c.1011C>A (p.Thr337=) n.243C>A n.523C>A c.888C>A (p.Thr296=) | |
| 10 | g.80274595G>A | CA377360408 | MAT1A | c.1010C>T (p.Thr337Ile) n.242C>T n.522C>T c.887C>T (p.Thr296Ile) | |
| 10 | g.80274595G>C | CA377360409 | MAT1A | c.1010C>G (p.Thr337Ser) n.242C>G n.522C>G c.887C>G (p.Thr296Ser) | |
| 10 | g.80274595G= | CA1922577908 | MAT1A | c.1010C= (p.Thr337=) n.242C= n.522C= c.887C= (p.Thr296=) | |
| 10 | g.80274595G>T | CA5576635 | MAT1A | c.1010C>A (p.Thr337Asn) n.242C>A n.522C>A c.887C>A (p.Thr296Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274596T>A | CA377360410 | MAT1A | c.1009A>T (p.Thr337Ser) n.241A>T n.521A>T c.886A>T (p.Thr296Ser) | |
| 10 | g.80274596T>C | CA377360411 | MAT1A | c.1009A>G (p.Thr337Ala) n.241A>G n.521A>G c.886A>G (p.Thr296Ala) | |
| 10 | g.80274596T>G | CA377360412 | MAT1A | c.1009A>C (p.Thr337Pro) n.241A>C n.521A>C c.886A>C (p.Thr296Pro) | |
| 10 | g.80274597T>A | CA470467256 | MAT1A | c.1008A>T (p.Gly336=) n.240A>T n.520A>T c.885A>T (p.Gly295=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80274597T>C | CA470467257 | MAT1A | c.1008A>G (p.Gly336=) n.240A>G n.520A>G c.885A>G (p.Gly295=) | |
| 10 | g.80274597T>G | CA470467258 | MAT1A | c.1008A>C (p.Gly336=) n.240A>C n.520A>C c.885A>C (p.Gly295=) | |
| 10 | g.80274597T= | CA1922577909 | MAT1A | c.1008A= (p.Gly336=) n.240A= n.520A= c.885A= (p.Gly295=) | |
| 10 | g.80274598C>A | CA377360413 | MAT1A | c.1007G>T (p.Gly336Val) n.239G>T n.519G>T c.884G>T (p.Gly295Val) | |
| 10 | g.80274598C>G | CA377360414 | MAT1A | c.1007G>C (p.Gly336Ala) n.239G>C n.519G>C c.884G>C (p.Gly295Ala) | |
| 10 | g.80274598C>T | CA377360415 | MAT1A | c.1007G>A (p.Gly336Glu) n.239G>A n.519G>A c.884G>A (p.Gly295Glu) | |
| 10 | g.80274599C>A | CA377360416 | MAT1A | c.1006G>T (p.Gly336Ter) n.238G>T n.518G>T c.883G>T (p.Gly295Ter) | |
| 10 | g.80274599C= | CA1922577912 | MAT1A | c.1006G= (p.Gly336=) n.238G= n.518G= c.883G= (p.Gly295=) | |
| 10 | g.80274599C>G | CA377360417 | MAT1A | c.1006G>C (p.Gly336Arg) n.238G>C n.518G>C c.883G>C (p.Gly295Arg) | |
| 10 | g.80274599C>T | CA114842 | MAT1A | c.1006G>A (p.Gly336Arg) n.238G>A n.518G>A c.883G>A (p.Gly295Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274600G>A | CA5576636 | MAT1A | c.1005C>T (p.Tyr335=) n.237C>T n.517C>T c.882C>T (p.Tyr294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274600G>C | CA377360418 | MAT1A | c.1005C>G (p.Tyr335Ter) n.237C>G n.517C>G c.882C>G (p.Tyr294Ter) | |
| 10 | g.80274600G= | CA1922577915 | MAT1A | c.1005C= (p.Tyr335=) n.237C= n.517C= c.882C= (p.Tyr294=) | |
| 10 | g.80274600G>T | CA377360419 | MAT1A | c.1005C>A (p.Tyr335Ter) n.237C>A n.517C>A c.882C>A (p.Tyr294Ter) | |
| 10 | g.80274601T>A | CA377360420 | MAT1A | c.1004A>T (p.Tyr335Phe) n.236A>T n.516A>T c.881A>T (p.Tyr294Phe) | |
| 10 | g.80274601T>C | CA377360422 | MAT1A | c.1004A>G (p.Tyr335Cys) n.236A>G n.516A>G c.881A>G (p.Tyr294Cys) | gnomAD v4 |
| 10 | g.80274601T>G | CA377360421 | MAT1A | c.1004A>C (p.Tyr335Ser) n.236A>C n.516A>C c.881A>C (p.Tyr294Ser) | |
| 10 | g.80274602A= | CA1922577918 | MAT1A | c.1003T= (p.Tyr335=) n.235T= n.515T= c.880T= (p.Tyr294=) | |
| 10 | g.80274602A>C | CA377360423 | MAT1A | c.1003T>G (p.Tyr335Asp) n.235T>G n.515T>G c.880T>G (p.Tyr294Asp) | |
| 10 | g.80274602A>G | CA5576637 | MAT1A | c.1003T>C (p.Tyr335His) n.235T>C n.515T>C c.880T>C (p.Tyr294His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274602A>T | CA377360424 | MAT1A | c.1003T>A (p.Tyr335Asn) n.235T>A n.515T>A c.880T>A (p.Tyr294Asn) | |
| 10 | g.80274603G>A | CA5576638 | MAT1A | c.1002C>T (p.Thr334=) n.234C>T n.514C>T c.879C>T (p.Thr293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274603G>C | CA470467259 | MAT1A | c.1002C>G (p.Thr334=) n.234C>G n.514C>G c.879C>G (p.Thr293=) | |
| 10 | g.80274603G= | CA1922577920 | MAT1A | c.1002C= (p.Thr334=) n.234C= n.514C= c.879C= (p.Thr293=) | |
| 10 | g.80274603G>T | CA470467260 | MAT1A | c.1002C>A (p.Thr334=) n.234C>A n.514C>A c.879C>A (p.Thr293=) | COSMIC |
| 10 | g.80274604G>A | CA377360425 | MAT1A | c.1001C>T (p.Thr334Ile) n.233C>T n.513C>T c.878C>T (p.Thr293Ile) | |
| 10 | g.80274604G>C | CA377360426 | MAT1A | c.1001C>G (p.Thr334Ser) n.233C>G n.513C>G c.878C>G (p.Thr293Ser) | |
| 10 | g.80274604G>T | CA377360427 | MAT1A | c.1001C>A (p.Thr334Asn) n.233C>A n.513C>A c.878C>A (p.Thr293Asn) | |
| 10 | g.80274605T>A | CA377360428 | MAT1A | c.1000A>T (p.Thr334Ser) n.232A>T n.512A>T c.877A>T (p.Thr293Ser) | |
| 10 | g.80274605T>C | CA5576639 | MAT1A | c.1000A>G (p.Thr334Ala) n.232A>G n.512A>G c.877A>G (p.Thr293Ala) | dbSNP ExAC |
| 10 | g.80274605T>G | CA377360429 | MAT1A | c.1000A>C (p.Thr334Pro) n.232A>C n.512A>C c.877A>C (p.Thr293Pro) | |
| 10 | g.80274605T= | CA1922577921 | MAT1A | c.1000A= (p.Thr334=) n.232A= n.512A= c.877A= (p.Thr293=) | |
| 10 | g.80274606G>A | CA470467261 | MAT1A | c.999C>T (p.Phe333=) n.231C>T n.511C>T c.876C>T (p.Phe292=) | gnomAD v4 |
| 10 | g.80274606G>C | CA377360431 | MAT1A | c.999C>G (p.Phe333Leu) n.231C>G n.511C>G c.876C>G (p.Phe292Leu) | |
| 10 | g.80274606G>T | CA377360430 | MAT1A | c.999C>A (p.Phe333Leu) n.231C>A n.511C>A c.876C>A (p.Phe292Leu) | |
| 10 | g.80274607A>C | CA377360432 | MAT1A | c.998T>G (p.Phe333Cys) n.230T>G n.510T>G c.875T>G (p.Phe292Cys) | |
| 10 | g.80274607A>G | CA377360433 | MAT1A | c.998T>C (p.Phe333Ser) n.230T>C n.510T>C c.875T>C (p.Phe292Ser) | |
| 10 | g.80274607A>T | CA377360434 | MAT1A | c.998T>A (p.Phe333Tyr) n.230T>A n.510T>A c.875T>A (p.Phe292Tyr) | |
| 10 | g.80274608A>C | CA377360435 | MAT1A | c.997T>G (p.Phe333Val) n.229T>G n.509T>G c.874T>G (p.Phe292Val) | COSMIC |
| 10 | g.80274608A>G | CA377360436 | MAT1A | c.997T>C (p.Phe333Leu) n.229T>C n.509T>C c.874T>C (p.Phe292Leu) | |
| 10 | g.80274608A>T | CA377360437 | MAT1A | c.997T>A (p.Phe333Ile) n.229T>A n.509T>A c.874T>A (p.Phe292Ile) | |
| 10 | g.80274609G>A | CA5576640 | MAT1A | c.996C>T (p.Ile332=) n.228C>T n.508C>T c.873C>T (p.Ile291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274609G>C | CA377360438 | MAT1A | c.996C>G (p.Ile332Met) n.228C>G n.508C>G c.873C>G (p.Ile291Met) | |
| 10 | g.80274609G= | CA1922572892 | MAT1A | c.996C= (p.Ile332=) n.228C= n.508C= c.873C= (p.Ile291=) | |
| 10 | g.80274609G>T | CA470467262 | MAT1A | c.996C>A (p.Ile332=) n.228C>A n.508C>A c.873C>A (p.Ile291=) | |
| 10 | g.80274610A>C | CA377360439 | MAT1A | c.995T>G (p.Ile332Ser) n.227T>G n.507T>G c.872T>G (p.Ile291Ser) | |
| 10 | g.80274610A>G | CA377360440 | MAT1A | c.995T>C (p.Ile332Thr) n.227T>C n.507T>C c.872T>C (p.Ile291Thr) | |
| 10 | g.80274610A>T | CA377360441 | MAT1A | c.995T>A (p.Ile332Asn) n.227T>A n.507T>A c.872T>A (p.Ile291Asn) | |
| 10 | g.80274611T>A | CA377360442 | MAT1A | c.994A>T (p.Ile332Phe) n.226A>T n.506A>T c.871A>T (p.Ile291Phe) | |
| 10 | g.80274611T>C | CA377360443 | MAT1A | c.994A>G (p.Ile332Val) n.226A>G n.506A>G c.871A>G (p.Ile291Val) | |
| 10 | g.80274611T>G | CA377360444 | MAT1A | c.994A>C (p.Ile332Leu) n.226A>C n.506A>C c.871A>C (p.Ile291Leu) | |
| 10 | g.80274612G>A | CA470467263 | MAT1A | c.993C>T (p.Ser331=) n.225C>T n.505C>T c.870C>T (p.Ser290=) | dbSNP gnomAD v2 COSMIC |
| 10 | g.80274612G>C | CA470467264 | MAT1A | c.993C>G (p.Ser331=) n.225C>G n.505C>G c.870C>G (p.Ser290=) | |
| 10 | g.80274612G= | CA1922572894 | MAT1A | c.993C= (p.Ser331=) n.225C= n.505C= c.870C= (p.Ser290=) | |
| 10 | g.80274612G>T | CA470467265 | MAT1A | c.993C>A (p.Ser331=) n.225C>A n.505C>A c.870C>A (p.Ser290=) | |
| 10 | g.80274613G>A | CA377360445 | MAT1A | c.992C>T (p.Ser331Phe) n.224C>T n.504C>T c.869C>T (p.Ser290Phe) | COSMIC |
| 10 | g.80274613G>C | CA377360447 | MAT1A | c.992C>G (p.Ser331Cys) n.224C>G n.504C>G c.869C>G (p.Ser290Cys) | |
| 10 | g.80274613G>T | CA377360446 | MAT1A | c.992C>A (p.Ser331Tyr) n.224C>A n.504C>A c.869C>A (p.Ser290Tyr) | |
| 10 | g.80274614A>C | CA377360448 | MAT1A | c.991T>G (p.Ser331Ala) n.223T>G n.503T>G c.868T>G (p.Ser290Ala) | |
| 10 | g.80274614A>G | CA377360449 | MAT1A | c.991T>C (p.Ser331Pro) n.223T>C n.503T>C c.868T>C (p.Ser290Pro) | |
| 10 | g.80274614A>T | CA377360450 | MAT1A | c.991T>A (p.Ser331Thr) n.223T>A n.503T>A c.868T>A (p.Ser290Thr) | |
| 10 | g.80274615A>C | CA377360451 | MAT1A | c.990T>G (p.Ile330Met) n.222T>G n.502T>G c.867T>G (p.Ile289Met) | |
| 10 | g.80274615A>G | CA470467266 | MAT1A | c.990T>C (p.Ile330=) n.222T>C n.502T>C c.867T>C (p.Ile289=) | |
| 10 | g.80274615A>T | CA470467267 | MAT1A | c.990T>A (p.Ile330=) n.222T>A n.502T>A c.867T>A (p.Ile289=) | gnomAD v4 |
| 10 | g.80274616A>C | CA377360452 | MAT1A | c.989T>G (p.Ile330Ser) n.221T>G n.501T>G c.866T>G (p.Ile289Ser) | |
| 10 | g.80274616A>G | CA377360453 | MAT1A | c.989T>C (p.Ile330Thr) n.221T>C n.501T>C c.866T>C (p.Ile289Thr) | |
| 10 | g.80274616A>T | CA377360454 | MAT1A | c.989T>A (p.Ile330Asn) n.221T>A n.501T>A c.866T>A (p.Ile289Asn) | |
| 10 | g.80274617T>A | CA377360455 | MAT1A | c.988A>T (p.Ile330Phe) n.220A>T n.500A>T c.865A>T (p.Ile289Phe) | |
| 10 | g.80274617T>C | CA377360456 | MAT1A | c.988A>G (p.Ile330Val) n.220A>G n.500A>G c.865A>G (p.Ile289Val) | |
| 10 | g.80274617T>G | CA377360457 | MAT1A | c.988A>C (p.Ile330Leu) n.220A>C n.500A>C c.865A>C (p.Ile289Leu) | |
| 10 | g.80274618G>A | CA470467268 | MAT1A | c.987C>T (p.Ser329=) n.219C>T n.499C>T c.864C>T (p.Ser288=) | |
| 10 | g.80274618G>C | CA470467269 | MAT1A | c.987C>G (p.Ser329=) n.219C>G n.499C>G c.864C>G (p.Ser288=) | |
| 10 | g.80274618G>T | CA470467270 | MAT1A | c.987C>A (p.Ser329=) n.219C>A n.499C>A c.864C>A (p.Ser288=) | |
| 10 | g.80274619dup | CA2609912916 | MAT1A | c.987dup (p.Ile330HisfsTer22) n.219dup n.499dup c.864dup (p.Ile289HisfsTer22) | gnomAD v4 |
| 10 | g.80274619G>A | CA377360460 | MAT1A | c.986C>T (p.Ser329Phe) n.218C>T n.498C>T c.863C>T (p.Ser288Phe) | COSMIC |
| 10 | g.80274619G>C | CA377360459 | MAT1A | c.986C>G (p.Ser329Cys) n.218C>G n.498C>G c.863C>G (p.Ser288Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274619G= | CA1922572896 | MAT1A | c.986C= (p.Ser329=) n.218C= n.498C= c.863C= (p.Ser288=) | |
| 10 | g.80274619G>T | CA377360458 | MAT1A | c.986C>A (p.Ser329Tyr) n.218C>A n.498C>A c.863C>A (p.Ser288Tyr) | |
| 10 | g.80274620A>C | CA377360461 | MAT1A | c.985T>G (p.Ser329Ala) n.217T>G n.497T>G c.862T>G (p.Ser288Ala) | |
| 10 | g.80274620A>G | CA377360462 | MAT1A | c.985T>C (p.Ser329Pro) n.217T>C n.497T>C c.862T>C (p.Ser288Pro) | |
| 10 | g.80274620A>T | CA377360463 | MAT1A | c.985T>A (p.Ser329Thr) n.217T>A n.497T>A c.862T>A (p.Ser288Thr) | |
| 10 | g.80274621C>A | CA470467271 | MAT1A | c.984G>T (p.Leu328=) n.216G>T n.496G>T c.861G>T (p.Leu287=) | |
| 10 | g.80274621C= | CA1922572898 | MAT1A | c.984G= (p.Leu328=) n.216G= n.496G= c.861G= (p.Leu287=) | |
| 10 | g.80274621C>G | CA470467272 | MAT1A | c.984G>C (p.Leu328=) n.216G>C n.496G>C c.861G>C (p.Leu287=) | gnomAD v4 |
| 10 | g.80274621C>T | CA5576641 | MAT1A | c.984G>A (p.Leu328=) n.216G>A n.496G>A c.861G>A (p.Leu287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274622A= | CA1922572903 | MAT1A | c.983T= (p.Leu328=) n.215T= n.495T= c.860T= (p.Leu287=) | |
| 10 | g.80274622A>C | CA377360464 | MAT1A | c.983T>G (p.Leu328Arg) n.215T>G n.495T>G c.860T>G (p.Leu287Arg) | |
| 10 | g.80274622A>G | CA377360465 | MAT1A | c.983T>C (p.Leu328Pro) n.215T>C n.495T>C c.860T>C (p.Leu287Pro) | ClinVar dbSNP |
| 10 | g.80274622A>T | CA377360466 | MAT1A | c.983T>A (p.Leu328Gln) n.215T>A n.495T>A c.860T>A (p.Leu287Gln) | |
| 10 | g.80274623G>A | CA470467273 | MAT1A | c.982C>T (p.Leu328=) n.214C>T n.494C>T c.859C>T (p.Leu287=) | gnomAD v4 |
| 10 | g.80274623G>C | CA377360467 | MAT1A | c.982C>G (p.Leu328Val) n.214C>G n.494C>G c.859C>G (p.Leu287Val) | |
| 10 | g.80274623G>T | CA377360468 | MAT1A | c.982C>A (p.Leu328Met) n.214C>A n.494C>A c.859C>A (p.Leu287Met) | |
| 10 | g.80274624C>A | CA470467274 | MAT1A | c.981G>T (p.Pro327=) n.213G>T n.493G>T c.858G>T (p.Pro286=) | |
| 10 | g.80274624C= | CA1922572909 | MAT1A | c.981G= (p.Pro327=) n.213G= n.493G= c.858G= (p.Pro286=) | |
| 10 | g.80274624C>G | CA470467275 | MAT1A | c.981G>C (p.Pro327=) n.213G>C n.493G>C c.858G>C (p.Pro286=) | |
| 10 | g.80274624C>T | CA5576642 | MAT1A | c.981G>A (p.Pro327=) n.213G>A n.493G>A c.858G>A (p.Pro286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80274625G>A | CA377360469 | MAT1A | c.980C>T (p.Pro327Leu) n.212C>T n.492C>T c.857C>T (p.Pro286Leu) | dbSNP gnomAD v4 |
| 10 | g.80274625G>C | CA377360470 | MAT1A | c.980C>G (p.Pro327Arg) n.212C>G n.492C>G c.857C>G (p.Pro286Arg) | |
| 10 | g.80274625G= | CA1922572915 | MAT1A | c.980C= (p.Pro327=) n.212C= n.492C= c.857C= (p.Pro286=) | |
| 10 | g.80274625G>T | CA377360471 | MAT1A | c.980C>A (p.Pro327Gln) n.212C>A n.492C>A c.857C>A (p.Pro286Gln) | |
| 10 | g.80274626G>A | CA377360474 | MAT1A | c.979C>T (p.Pro327Ser) n.211C>T n.491C>T c.856C>T (p.Pro286Ser) | |
| 10 | g.80274626G>C | CA377360473 | MAT1A | c.979C>G (p.Pro327Ala) n.211C>G n.491C>G c.856C>G (p.Pro286Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274626G= | CA1922572919 | MAT1A | c.979C= (p.Pro327=) n.211C= n.491C= c.856C= (p.Pro286=) | |
| 10 | g.80274626G>T | CA377360472 | MAT1A | c.979C>A (p.Pro327Thr) n.211C>A n.491C>A c.856C>A (p.Pro286Thr) | |
| 10 | g.80274627C>A | CA377360475 | MAT1A | c.978G>T (p.Glu326Asp) n.210G>T n.490G>T c.855G>T (p.Glu285Asp) | |
| 10 | g.80274627C= | CA1922572922 | MAT1A | c.978G= (p.Glu326=) n.210G= n.490G= c.855G= (p.Glu285=) | |
| 10 | g.80274627C>G | CA377360476 | MAT1A | c.978G>C (p.Glu326Asp) n.210G>C n.490G>C c.855G>C (p.Glu285Asp) | |
| 10 | g.80274627C>T | CA470467276 | MAT1A | c.978G>A (p.Glu326=) n.210G>A n.490G>A c.855G>A (p.Glu285=) | dbSNP |
| 10 | g.80274627_80274628insGAAGAGCATTGGTTTTCCGCACGTT | CA2532124130 | MAT1A | c.977_978insAACGTGCGGAAAACCAATGCTCTTC (p.Pro327ThrfsTer33) n.209_210insAACGTGCGGAAAACCAATGCTCTTC n.489_490insAACGTGCGGAAAACCAATGCTCTTC c.854_855insAACGTGCGGAAAACCAATGCTCTTC (p.Pro286ThrfsTer33) | |
| 10 | g.80274627_80274628insGAAGAACATTGGTTTTCCGCGCGTT | CA2523210099 | MAT1A | c.977_978insAACGCGCGGAAAACCAATGTTCTTC (p.Pro327ThrfsTer33) n.209_210insAACGCGCGGAAAACCAATGTTCTTC n.489_490insAACGCGCGGAAAACCAATGTTCTTC c.854_855insAACGCGCGGAAAACCAATGTTCTTC (p.Pro286ThrfsTer33) | |
| 10 | g.80274627_80274628insGAAGAGCATTGGTTCTCCGCGCGTT | CA2549264813 | MAT1A | c.977_978insAACGCGCGGAGAACCAATGCTCTTC (p.Pro327ThrfsTer33) n.209_210insAACGCGCGGAGAACCAATGCTCTTC n.489_490insAACGCGCGGAGAACCAATGCTCTTC c.854_855insAACGCGCGGAGAACCAATGCTCTTC (p.Pro286ThrfsTer33) | |
| 10 | g.80274627_80274628insGAAGAACATTGGTTTTCCGCGCGGTTTGCCTGCCCCGTGTGT | CA2555462336 | MAT1A | c.977_978insACACACGGGGCAGGCAAACCGCGCGGAAAACCAATGTTCTTC (p.Glu326_Pro327insHisThrGlyGlnAlaAsnArgAlaGluAsnGlnCysSerSer) n.209_210insACACACGGGGCAGGCAAACCGCGCGGAAAACCAATGTTCTTC n.489_490insACACACGGGGCAGGCAAACCGCGCGGAAAACCAATGTTCTTC c.854_855insACACACGGGGCAGGCAAACCGCGCGGAAAACCAATGTTCTTC (p.Glu285_Pro286insHisThrGlyGlnAlaAsnArgAlaGluAsnGlnCysSerSer) | |
| 10 | g.80274627_80274628insGAAGAGCATTGGTTTTCCGCGCGGTTTGCCTGCCCCGTATGT | CA2528053591 | MAT1A | c.977_978insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC (p.Glu326_Pro327insHisThrGlyGlnAlaAsnArgAlaGluAsnGlnCysSerSer) n.209_210insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC n.489_490insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC c.854_855insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC (p.Glu285_Pro286insHisThrGlyGlnAlaAsnArgAlaGluAsnGlnCysSerSer) | |
| 10 | g.80274627_80274628insGAAGAACATTGGTTTTCCGCGCGTTTTGCCTGCCCCGTGTGT | CA2537734015 | MAT1A | c.977_978insACACACGGGGCAGGCAAAACGCGCGGAAAACCAATGTTCTTC (p.Glu326_Pro327insHisThrGlyGlnAlaLysArgAlaGluAsnGlnCysSerSer) n.209_210insACACACGGGGCAGGCAAAACGCGCGGAAAACCAATGTTCTTC n.489_490insACACACGGGGCAGGCAAAACGCGCGGAAAACCAATGTTCTTC c.854_855insACACACGGGGCAGGCAAAACGCGCGGAAAACCAATGTTCTTC (p.Glu285_Pro286insHisThrGlyGlnAlaLysArgAlaGluAsnGlnCysSerSer) | |
| 10 | g.80274628T>A | CA377360477 | MAT1A | c.977A>T (p.Glu326Val) n.209A>T n.489A>T c.854A>T (p.Glu285Val) | |
| 10 | g.80274628T>C | CA377360478 | MAT1A | c.977A>G (p.Glu326Gly) n.209A>G n.489A>G c.854A>G (p.Glu285Gly) | |
| 10 | g.80274628T>G | CA377360479 | MAT1A | c.977A>C (p.Glu326Ala) n.209A>C n.489A>C c.854A>C (p.Glu285Ala) | |
| 10 | g.80274629C>A | CA377360480 | MAT1A | c.976G>T (p.Glu326Ter) n.208G>T n.488G>T c.853G>T (p.Glu285Ter) | |
| 10 | g.80274629C= | CA1922572925 | MAT1A | c.976G= (p.Glu326=) n.208G= n.488G= c.853G= (p.Glu285=) | |
| 10 | g.80274629C>G | CA377360481 | MAT1A | c.976G>C (p.Glu326Gln) n.208G>C n.488G>C c.853G>C (p.Glu285Gln) | |
| 10 | g.80274629C>T | CA5576643 | MAT1A | c.976G>A (p.Glu326Lys) n.208G>A n.488G>A c.853G>A (p.Glu285Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274630G>A | CA5576645 | MAT1A | c.975C>T (p.Ala325=) n.207C>T n.487C>T c.852C>T (p.Ala284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274630G>C | CA5576644 | MAT1A | c.975C>G (p.Ala325=) n.207C>G n.487C>G c.852C>G (p.Ala284=) | dbSNP ExAC gnomAD v4 |
| 10 | g.80274630G= | CA1922572927 | MAT1A | c.975C= (p.Ala325=) n.207C= n.487C= c.852C= (p.Ala284=) | |
| 10 | g.80274630G>T | CA470467277 | MAT1A | c.975C>A (p.Ala325=) n.207C>A n.487C>A c.852C>A (p.Ala284=) | |
| 10 | g.80274630_80274631insCCT | CA2547715102 | MAT1A | c.974_975insAGG (p.Ala325_Glu326insGly) n.206_207insAGG n.486_487insAGG c.851_852insAGG (p.Ala284_Glu285insGly) | |
| 10 | g.80274630_80274631insTACA | CA2566744389 | MAT1A | c.974_975insTGTA (p.Glu326ValfsTer27) n.206_207insTGTA n.486_487insTGTA c.851_852insTGTA (p.Glu285ValfsTer27) | |
| 10 | g.80274630_80274631insCCTGTCCCGTGTGTTCGTACA | CA2536913417 | MAT1A | c.974_975insTGTACGAACACACGGGACAGG (p.Ala325_Glu326insValArgThrHisGlyThrGly) n.206_207insTGTACGAACACACGGGACAGG n.486_487insTGTACGAACACACGGGACAGG c.851_852insTGTACGAACACACGGGACAGG (p.Ala284_Glu285insValArgThrHisGlyThrGly) | |
| 10 | g.80274631G>A | CA377360482 | MAT1A | c.974C>T (p.Ala325Val) n.206C>T n.486C>T c.851C>T (p.Ala284Val) | |
| 10 | g.80274631G>C | CA377360483 | MAT1A | c.974C>G (p.Ala325Gly) n.206C>G n.486C>G c.851C>G (p.Ala284Gly) | |
| 10 | g.80274631G>T | CA377360484 | MAT1A | c.974C>A (p.Ala325Asp) n.206C>A n.486C>A c.851C>A (p.Ala284Asp) | |
| 10 | g.80274632C>A | CA377360486 | MAT1A | c.973G>T (p.Ala325Ser) n.205G>T n.485G>T c.850G>T (p.Ala284Ser) | |
| 10 | g.80274632C= | CA1922572931 | MAT1A | c.973G= (p.Ala325=) n.205G= n.485G= c.850G= (p.Ala284=) | |
| 10 | g.80274632C>G | CA377360487 | MAT1A | c.973G>C (p.Ala325Pro) n.205G>C n.485G>C c.850G>C (p.Ala284Pro) | |
| 10 | g.80274632C>T | CA377360485 | MAT1A | c.973G>A (p.Ala325Thr) n.205G>A n.485G>A c.850G>A (p.Ala284Thr) | dbSNP |
| 10 | g.80274633C>A | CA470467278 | MAT1A | c.972G>T (p.Val324=) n.204G>T n.484G>T c.849G>T (p.Val283=) | |
| 10 | g.80274633C= | CA1922572933 | MAT1A | c.972G= (p.Val324=) n.204G= n.484G= c.849G= (p.Val283=) | |
| 10 | g.80274633C>G | CA470467279 | MAT1A | c.972G>C (p.Val324=) n.204G>C n.484G>C c.849G>C (p.Val283=) | |
| 10 | g.80274633C>T | CA5576646 | MAT1A | c.972G>A (p.Val324=) n.204G>A n.484G>A c.849G>A (p.Val283=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80274633_80274634insTGCCCGAATTAGAGCCGCGCCTTTTTTCGTTCA | CA2511183031 | MAT1A | c.971_972insTGAACGAAAAAAGGCGCGGCTCTAATTCGGGCA (p.Val325GlufsTer8) n.203_204insTGAACGAAAAAAGGCGCGGCTCTAATTCGGGCA n.483_484insTGAACGAAAAAAGGCGCGGCTCTAATTCGGGCA c.848_849insTGAACGAAAAAAGGCGCGGCTCTAATTCGGGCA (p.Val284GlufsTer8) | |
| 10 | g.80274633_80274634insTGCCCGAATTAGAGCCGCGCCTCTTTTCGTTCAACAACCCGATGGGCTCCTGCCCGACTTGCGACGGCTTGGGCA | CA2560015310 | MAT1A | c.971_972insTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGGTTGTTGAACGAAAAGAGGCGCGGCTCTAATTCGGGCA (p.Val325AlafsTer22) n.203_204insTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGGTTGTTGAACGAAAAGAGGCGCGGCTCTAATTCGGGCA n.483_484insTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGGTTGTTGAACGAAAAGAGGCGCGGCTCTAATTCGGGCA c.848_849insTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGGTTGTTGAACGAAAAGAGGCGCGGCTCTAATTCGGGCA (p.Val284AlafsTer22) | |
| 10 | g.80274633_80274634insTGCCCGAACTGGAGCCGCGCCTTTTTTCGTTCAACAACCCGATGGGGTCCTGCCCGACTTGCGACGGCTTGGGCA | CA2535258404 | MAT1A | c.971_972insTGCCCAAGCCGTCGCAAGTCGGGCAGGACCCCATCGGGTTGTTGAACGAAAAAAGGCGCGGCTCCAGTTCGGGCA (p.Val324_Ala325insAlaGlnAlaValAlaSerArgAlaGlyProHisArgValValGluArgLysLysAlaArgLeuGlnPheGlyGln) n.203_204insTGCCCAAGCCGTCGCAAGTCGGGCAGGACCCCATCGGGTTGTTGAACGAAAAAAGGCGCGGCTCCAGTTCGGGCA n.483_484insTGCCCAAGCCGTCGCAAGTCGGGCAGGACCCCATCGGGTTGTTGAACGAAAAAAGGCGCGGCTCCAGTTCGGGCA c.848_849insTGCCCAAGCCGTCGCAAGTCGGGCAGGACCCCATCGGGTTGTTGAACGAAAAAAGGCGCGGCTCCAGTTCGGGCA (p.Val283_Ala284insAlaGlnAlaValAlaSerArgAlaGlyProHisArgValValGluArgLysLysAlaArgLeuGlnPheGlyGln) | |
| 10 | g.80274633_80274634insCCGTTTGTTCGTACAGCCTGCCCGAATTGGAGCCGCGCCTCTTTTCGTTCAACAACCCGATGGGCTCCTGCCCGACTTGCGACGGCTTGGGCA | CA2538857988 | MAT1A | c.971_972insTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGGTTGTTGAACGAAAAGAGGCGCGGCTCCAATTCGGGCAGGCTGTACGAACAAACGG (p.Val324_Ala325insAlaGlnAlaValAlaSerArgAlaGlyAlaHisArgValValGluArgLysGluAlaArgLeuGlnPheGlyGlnAlaValArgThrAsnGly) n.203_204insTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGGTTGTTGAACGAAAAGAGGCGCGGCTCCAATTCGGGCAGGCTGTACGAACAAACGG n.483_484insTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGGTTGTTGAACGAAAAGAGGCGCGGCTCCAATTCGGGCAGGCTGTACGAACAAACGG c.848_849insTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGGTTGTTGAACGAAAAGAGGCGCGGCTCCAATTCGGGCAGGCTGTACGAACAAACGG (p.Val283_Ala284insAlaGlnAlaValAlaSerArgAlaGlyAlaHisArgValValGluArgLysGluAlaArgLeuGlnPheGlyGlnAlaValArgThrAsnGly) | |
| 10 | g.80274633_80274634insCCGTGTGTTCGTACAGCCTGCCCGAATTAGAACCGCGCCTCTTTTCCTTCAACAACCCGATGGGTTCCTGCCCGACTTGCGACGGCTTGGGCA | CA2514941342 | MAT1A | c.971_972insTGCCCAAGCCGTCGCAAGTCGGGCAGGAACCCATCGGGTTGTTGAAGGAAAAGAGGCGCGGTTCTAATTCGGGCAGGCTGTACGAACACACGG (p.Val325AlafsTer22) n.203_204insTGCCCAAGCCGTCGCAAGTCGGGCAGGAACCCATCGGGTTGTTGAAGGAAAAGAGGCGCGGTTCTAATTCGGGCAGGCTGTACGAACACACGG n.483_484insTGCCCAAGCCGTCGCAAGTCGGGCAGGAACCCATCGGGTTGTTGAAGGAAAAGAGGCGCGGTTCTAATTCGGGCAGGCTGTACGAACACACGG c.848_849insTGCCCAAGCCGTCGCAAGTCGGGCAGGAACCCATCGGGTTGTTGAAGGAAAAGAGGCGCGGTTCTAATTCGGGCAGGCTGTACGAACACACGG (p.Val284AlafsTer22) | |
| 10 | g.80274634A>C | CA377360488 | MAT1A | c.971T>G (p.Val324Gly) n.203T>G n.483T>G c.848T>G (p.Val283Gly) | |
| 10 | g.80274634A>G | CA377360489 | MAT1A | c.971T>C (p.Val324Ala) n.203T>C n.483T>C c.848T>C (p.Val283Ala) | |
| 10 | g.80274634A>T | CA377360490 | MAT1A | c.971T>A (p.Val324Glu) n.203T>A n.483T>A c.848T>A (p.Val283Glu) | |
| 10 | g.80274635C>A | CA377360491 | MAT1A | c.970G>T (p.Val324Leu) n.202G>T n.482G>T c.847G>T (p.Val283Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80274635C= | CA1922572936 | MAT1A | c.970G= (p.Val324=) n.202G= n.482G= c.847G= (p.Val283=) | |
| 10 | g.80274635C>G | CA377360492 | MAT1A | c.970G>C (p.Val324Leu) n.202G>C n.482G>C c.847G>C (p.Val283Leu) | |
| 10 | g.80274635C>T | CA377360493 | MAT1A | c.970G>A (p.Val324Met) n.202G>A n.482G>A c.847G>A (p.Val283Met) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274636A= | CA1922572939 | MAT1A | c.969T= (p.Gly323=) n.201T= n.481T= c.846T= (p.Gly282=) | |
| 10 | g.80274636A>C | CA470467280 | MAT1A | c.969T>G (p.Gly323=) n.201T>G n.481T>G c.846T>G (p.Gly282=) | dbSNP |
| 10 | g.80274636A>G | CA470467281 | MAT1A | c.969T>C (p.Gly323=) n.201T>C n.481T>C c.846T>C (p.Gly282=) | |
| 10 | g.80274636A>T | CA470467282 | MAT1A | c.969T>A (p.Gly323=) n.201T>A n.481T>A c.846T>A (p.Gly282=) | gnomAD v4 |
| 10 | g.80274636_80274637insATCCGATGGGCTCCTGCCCGACTTGCGACGGCTTGGGCAATA | CA2524219593 | MAT1A | c.969_970insATTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGATT (p.Gly323_Val324insIleAlaGlnAlaValAlaSerArgAlaGlyAlaHisArgIle) n.201_202insATTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGATT n.481_482insATTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGATT c.846_847insATTGCCCAAGCCGTCGCAAGTCGGGCAGGAGCCCATCGGATT (p.Gly282_Val283insIleAlaGlnAlaValAlaSerArgAlaGlyAlaHisArgIle) | |
| 10 | g.80274636_80274637delinsAC | CA1922572938 | MAT1A | c.968_969delinsGT (p.Gly323=) n.200_201delinsGT n.480_481delinsGT c.845_846delinsGT (p.Gly282=) | |
| 10 | g.80274637C>A | CA377360494 | MAT1A | c.968G>T (p.Gly323Val) n.200G>T n.480G>T c.845G>T (p.Gly282Val) | |
| 10 | g.80274637C= | CA1922572945 | MAT1A | c.968G= (p.Gly323=) n.200G= n.480G= c.845G= (p.Gly282=) | |
| 10 | g.80274637C>G | CA377360495 | MAT1A | c.968G>C (p.Gly323Ala) n.200G>C n.480G>C c.845G>C (p.Gly282Ala) | gnomAD v4 |
| 10 | g.80274637C>T | CA5576647 | MAT1A | c.968G>A (p.Gly323Asp) n.200G>A n.480G>A c.845G>A (p.Gly282Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274638del | CA594460446 | MAT1A | c.968del (p.Gly323ValfsTer?) n.200del n.480del c.845del (p.Gly282ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80274638C>A | CA377360496 | MAT1A | c.967G>T (p.Gly323Cys) n.199G>T n.479G>T c.844G>T (p.Gly282Cys) | |
| 10 | g.80274638C>G | CA377360497 | MAT1A | c.967G>C (p.Gly323Arg) n.199G>C n.479G>C c.844G>C (p.Gly282Arg) | |
| 10 | g.80274638C>T | CA377360498 | MAT1A | c.967G>A (p.Gly323Ser) n.199G>A n.479G>A c.844G>A (p.Gly282Ser) | |
| 10 | g.80274639A= | CA1922572950 | MAT1A | c.966T= (p.Ile322=) n.198T= n.478T= c.843T= (p.Ile281=) | |
| 10 | g.80274639A>C | CA114836 | MAT1A | c.966T>G (p.Ile322Met) n.198T>G n.478T>G c.843T>G (p.Ile281Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80274639A>G | CA470467283 | MAT1A | c.966T>C (p.Ile322=) n.198T>C n.478T>C c.843T>C (p.Ile281=) | |
| 10 | g.80274639A>T | CA470467284 | MAT1A | c.966T>A (p.Ile322=) n.198T>A n.478T>A c.843T>A (p.Ile281=) | |
| 10 | g.80274640A>C | CA377360499 | MAT1A | c.965T>G (p.Ile322Ser) n.197T>G n.477T>G c.842T>G (p.Ile281Ser) | |
| 10 | g.80274640A>G | CA377360500 | MAT1A | c.965T>C (p.Ile322Thr) n.197T>C n.477T>C c.842T>C (p.Ile281Thr) | ClinVar |
| 10 | g.80274640A>T | CA377360501 | MAT1A | c.965T>A (p.Ile322Asn) n.197T>A n.477T>A c.842T>A (p.Ile281Asn) |