Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133766280T>A | CA354608516 | TF | c.1333T>A (p.Tyr445Asn) c.3T>A c.1201T>A (p.Tyr401Asn) c.952T>A (p.Tyr318Asn) | |
3 | g.133766280T>C | CA2625285 | TF | c.1333T>C (p.Tyr445His) c.3T>C c.1201T>C (p.Tyr401His) c.952T>C (p.Tyr318His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766280T>G | CA354608517 | TF | c.1333T>G (p.Tyr445Asp) c.3T>G c.1201T>G (p.Tyr401Asp) c.952T>G (p.Tyr318Asp) | |
3 | g.133766280T= | CA1403119303 | TF | c.1333T= (p.Tyr445=) c.3T= c.1201T= (p.Tyr401=) c.952T= (p.Tyr318=) | |
3 | g.133766281A= | CA1403119308 | TF | c.1334A= (p.Tyr445=) c.4A= c.1202A= (p.Tyr401=) c.953A= (p.Tyr318=) | |
3 | g.133766281A>C | CA354608519 | TF | c.1334A>C (p.Tyr445Ser) c.4A>C c.1202A>C (p.Tyr401Ser) c.953A>C (p.Tyr318Ser) | |
3 | g.133766281A>G | CA83685493 | TF | c.1334A>G (p.Tyr445Cys) c.4A>G c.1202A>G (p.Tyr401Cys) c.953A>G (p.Tyr318Cys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766281A>T | CA354608518 | TF | c.1334A>T (p.Tyr445Phe) c.4A>T c.1202A>T (p.Tyr401Phe) c.953A>T (p.Tyr318Phe) | |
3 | g.133766282T>A | CA354608520 | TF | c.1335T>A (p.Tyr445Ter) c.5T>A c.1203T>A (p.Tyr401Ter) c.954T>A (p.Tyr318Ter) | |
3 | g.133766282T>C | CA435815579 | TF | c.1335T>C (p.Tyr445=) c.5T>C c.1203T>C (p.Tyr401=) c.954T>C (p.Tyr318=) | |
3 | g.133766282T>G | CA354608521 | TF | c.1335T>G (p.Tyr445Ter) c.5T>G c.1203T>G (p.Tyr401Ter) c.954T>G (p.Tyr318Ter) | |
3 | g.133766283T>A | CA354608522 | TF | c.1336T>A (p.Phe446Ile) c.6T>A c.1204T>A (p.Phe402Ile) c.955T>A (p.Phe319Ile) | dbSNP gnomAD v4 |
3 | g.133766283T>C | CA354608523 | TF | c.1336T>C (p.Phe446Leu) c.6T>C c.1204T>C (p.Phe402Leu) c.955T>C (p.Phe319Leu) | |
3 | g.133766283T>G | CA354608524 | TF | c.1336T>G (p.Phe446Val) c.6T>G c.1204T>G (p.Phe402Val) c.955T>G (p.Phe319Val) | |
3 | g.133766283T= | CA1403119312 | TF | c.1336T= (p.Phe446=) c.6T= c.1204T= (p.Phe402=) c.955T= (p.Phe319=) | |
3 | g.133766284T>A | CA83685498 | TF | c.1337T>A (p.Phe446Tyr) c.7T>A c.1205T>A (p.Phe402Tyr) c.956T>A (p.Phe319Tyr) | dbSNP |
3 | g.133766284T>C | CA354608525 | TF | c.1337T>C (p.Phe446Ser) c.7T>C c.1205T>C (p.Phe402Ser) c.956T>C (p.Phe319Ser) | |
3 | g.133766284T>G | CA354608526 | TF | c.1337T>G (p.Phe446Cys) c.7T>G c.1205T>G (p.Phe402Cys) c.956T>G (p.Phe319Cys) | |
3 | g.133766284T= | CA1403119315 | TF | c.1337T= (p.Phe446=) c.7T= c.1205T= (p.Phe402=) c.956T= (p.Phe319=) | |
3 | g.133766285T>A | CA354608527 | TF | c.1338T>A (p.Phe446Leu) c.8T>A c.1206T>A (p.Phe402Leu) c.957T>A (p.Phe319Leu) | |
3 | g.133766285T>C | CA435815580 | TF | c.1338T>C (p.Phe446=) c.8T>C c.1206T>C (p.Phe402=) c.957T>C (p.Phe319=) | |
3 | g.133766285T>G | CA354608528 | TF | c.1338T>G (p.Phe446Leu) c.8T>G c.1206T>G (p.Phe402Leu) c.957T>G (p.Phe319Leu) | |
3 | g.133766286G>A | CA354608529 | TF | c.1339G>A (p.Ala447Thr) c.9G>A c.1207G>A (p.Ala403Thr) c.958G>A (p.Ala320Thr) | |
3 | g.133766286G>C | CA354608530 | TF | c.1339G>C (p.Ala447Pro) c.9G>C c.1207G>C (p.Ala403Pro) c.958G>C (p.Ala320Pro) | |
3 | g.133766286G>T | CA354608531 | TF | c.1339G>T (p.Ala447Ser) c.9G>T c.1207G>T (p.Ala403Ser) c.958G>T (p.Ala320Ser) | COSMIC |
3 | g.133766287C>A | CA354608532 | TF | c.1340C>A (p.Ala447Asp) c.10C>A c.1208C>A (p.Ala403Asp) c.959C>A (p.Ala320Asp) | |
3 | g.133766287C>G | CA354608534 | TF | c.1340C>G (p.Ala447Gly) c.10C>G c.1208C>G (p.Ala403Gly) c.959C>G (p.Ala320Gly) | |
3 | g.133766287C>T | CA354608533 | TF | c.1340C>T (p.Ala447Val) c.10C>T c.1208C>T (p.Ala403Val) c.959C>T (p.Ala320Val) | gnomAD v4 |
3 | g.133766288T>A | CA435815581 | TF | c.1341T>A (p.Ala447=) c.11T>A c.1209T>A (p.Ala403=) c.960T>A (p.Ala320=) | |
3 | g.133766288T>C | CA435815582 | TF | c.1341T>C (p.Ala447=) c.11T>C c.1209T>C (p.Ala403=) c.960T>C (p.Ala320=) | |
3 | g.133766288T>G | CA435815583 | TF | c.1341T>G (p.Ala447=) c.11T>G c.1209T>G (p.Ala403=) c.960T>G (p.Ala320=) | |
3 | g.133766289A= | CA1403119316 | TF | c.1342A= (p.Ile448=) c.12A= c.1210A= (p.Ile404=) c.961A= (p.Ile321=) | |
3 | g.133766289A>C | CA354608535 | TF | c.1342A>C (p.Ile448Leu) c.12A>C c.1210A>C (p.Ile404Leu) c.961A>C (p.Ile321Leu) | dbSNP |
3 | g.133766289A>G | CA2625286 | TF | c.1342A>G (p.Ile448Val) c.12A>G c.1210A>G (p.Ile404Val) c.961A>G (p.Ile321Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766289A>T | CA354608536 | TF | c.1342A>T (p.Ile448Leu) c.12A>T c.1210A>T (p.Ile404Leu) c.961A>T (p.Ile321Leu) | |
3 | g.133766290T>A | CA354608537 | TF | c.1343T>A (p.Ile448Lys) c.13T>A c.1343T>A (p.Val448Glu) c.1211T>A (p.Val404Glu) c.962T>A (p.Val321Glu) c.1211T>A (p.Ile404Lys) c.962T>A (p.Ile321Lys) | |
3 | g.133766290T>C | CA354608539 | TF | c.1343T>C (p.Ile448Thr) c.13T>C c.1343T>C (p.Val448Ala) c.1211T>C (p.Val404Ala) c.962T>C (p.Val321Ala) c.1211T>C (p.Ile404Thr) c.962T>C (p.Ile321Thr) | |
3 | g.133766290T>G | CA354608538 | TF | c.1343T>G (p.Ile448Arg) c.13T>G c.1343T>G (p.Val448Gly) c.1211T>G (p.Val404Gly) c.962T>G (p.Val321Gly) c.1211T>G (p.Ile404Arg) c.962T>G (p.Ile321Arg) | |
3 | g.133766291A>C | CA435815585 | TF | c.1344A>C (p.Ile448=) c.14A>C c.1344A>C (p.Val448=) c.1212A>C (p.Val404=) c.963A>C (p.Val321=) c.1212A>C (p.Ile404=) c.963A>C (p.Ile321=) | |
3 | g.133766291A>G | CA354608540 | TF | c.1344A>G (p.Ile448Met) c.14A>G c.1344A>G (p.Val448=) c.1212A>G (p.Val404=) c.963A>G (p.Val321=) c.1212A>G (p.Ile404Met) c.963A>G (p.Ile321Met) | gnomAD v4 |
3 | g.133766291A>T | CA435815584 | TF | c.1344A>T (p.Ile448=) c.14A>T c.1344A>T (p.Val448=) c.1212A>T (p.Val404=) c.963A>T (p.Val321=) c.1212A>T (p.Ile404=) c.963A>T (p.Ile321=) | |
3 | g.133766292G>A | CA354608541 | TF | c.1345G>A (p.Ala449Thr) c.15G>A c.1213G>A (p.Ala405Thr) c.964G>A (p.Ala322Thr) | dbSNP |
3 | g.133766292G>C | CA354608542 | TF | c.1345G>C (p.Ala449Pro) c.15G>C c.1213G>C (p.Ala405Pro) c.964G>C (p.Ala322Pro) | dbSNP gnomAD v4 |
3 | g.133766292G= | CA1403119318 | TF | c.1345G= (p.Ala449=) c.15G= c.1213G= (p.Ala405=) c.964G= (p.Ala322=) | |
3 | g.133766292G>T | CA354608543 | TF | c.1345G>T (p.Ala449Ser) c.15G>T c.1213G>T (p.Ala405Ser) c.964G>T (p.Ala322Ser) | |
3 | g.133766293C>A | CA354608544 | TF | c.1346C>A (p.Ala449Glu) c.16C>A c.1214C>A (p.Ala405Glu) c.965C>A (p.Ala322Glu) | |
3 | g.133766293C>G | CA354608545 | TF | c.1346C>G (p.Ala449Gly) c.16C>G c.1214C>G (p.Ala405Gly) c.965C>G (p.Ala322Gly) | |
3 | g.133766293C>T | CA354608546 | TF | c.1346C>T (p.Ala449Val) c.16C>T c.1214C>T (p.Ala405Val) c.965C>T (p.Ala322Val) | |
3 | g.133766294A>C | CA435815586 | TF | c.1347A>C (p.Ala449=) c.17A>C c.1215A>C (p.Ala405=) c.966A>C (p.Ala322=) | |
3 | g.133766294A>G | CA435815587 | TF | c.1347A>G (p.Ala449=) c.17A>G c.1215A>G (p.Ala405=) c.966A>G (p.Ala322=) | |
3 | g.133766294A>T | CA435815588 | TF | c.1347A>T (p.Ala449=) c.17A>T c.1215A>T (p.Ala405=) c.966A>T (p.Ala322=) | |
3 | g.133766295G>A | CA354608547 | TF | c.1348G>A (p.Val450Met) c.18G>A c.1216G>A (p.Val406Met) c.967G>A (p.Val323Met) | |
3 | g.133766295G>C | CA354608549 | TF | c.1348G>C (p.Val450Leu) c.18G>C c.1216G>C (p.Val406Leu) c.967G>C (p.Val323Leu) | |
3 | g.133766295G>T | CA354608548 | TF | c.1348G>T (p.Val450Leu) c.18G>T c.1216G>T (p.Val406Leu) c.967G>T (p.Val323Leu) | |
3 | g.133766296T>A | CA354608550 | TF | c.1349T>A (p.Val450Glu) c.19T>A c.1217T>A (p.Val406Glu) c.968T>A (p.Val323Glu) | |
3 | g.133766296T>C | CA354608551 | TF | c.1349T>C (p.Val450Ala) c.19T>C c.1217T>C (p.Val406Ala) c.968T>C (p.Val323Ala) | dbSNP |
3 | g.133766296T>G | CA354608552 | TF | c.1349T>G (p.Val450Gly) c.19T>G c.1217T>G (p.Val406Gly) c.968T>G (p.Val323Gly) | |
3 | g.133766296T= | CA1403119319 | TF | c.1349T= (p.Val450=) c.19T= c.1217T= (p.Val406=) c.968T= (p.Val323=) | |
3 | g.133766297G>A | CA2625287 | TF | c.1350G>A (p.Val450=) c.20G>A c.1218G>A (p.Val406=) c.969G>A (p.Val323=) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.133766297G>C | CA435815589 | TF | c.1350G>C (p.Val450=) c.20G>C c.1218G>C (p.Val406=) c.969G>C (p.Val323=) | |
3 | g.133766297G= | CA1403119322 | TF | c.1350G= (p.Val450=) c.20G= c.1218G= (p.Val406=) c.969G= (p.Val323=) | |
3 | g.133766297G>T | CA435815590 | TF | c.1350G>T (p.Val450=) c.20G>T c.1218G>T (p.Val406=) c.969G>T (p.Val323=) | |
3 | g.133766298G>A | CA2625288 | TF | c.1351G>A (p.Val451Met) c.21G>A c.1219G>A (p.Val407Met) c.970G>A (p.Val324Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766298G>C | CA354608554 | TF | c.1351G>C (p.Val451Leu) c.21G>C c.1219G>C (p.Val407Leu) c.970G>C (p.Val324Leu) | |
3 | g.133766298G= | CA1403119325 | TF | c.1351G= (p.Val451=) c.21G= c.1219G= (p.Val407=) c.970G= (p.Val324=) | |
3 | g.133766298G>T | CA354608553 | TF | c.1351G>T (p.Val451Leu) c.21G>T c.1219G>T (p.Val407Leu) c.970G>T (p.Val324Leu) | dbSNP |
3 | g.133766299T>A | CA354608555 | TF | c.1352T>A (p.Val451Glu) c.22T>A c.1220T>A (p.Val407Glu) c.971T>A (p.Val324Glu) | |
3 | g.133766299T>C | CA2625289 | TF | c.1352T>C (p.Val451Ala) c.22T>C c.1220T>C (p.Val407Ala) c.971T>C (p.Val324Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766299T>G | CA354608556 | TF | c.1352T>G (p.Val451Gly) c.22T>G c.1220T>G (p.Val407Gly) c.971T>G (p.Val324Gly) | |
3 | g.133766299T= | CA1403119329 | TF | c.1352T= (p.Val451=) c.22T= c.1220T= (p.Val407=) c.971T= (p.Val324=) | |
3 | g.133766300G>A | CA435815591 | TF | c.1353G>A (p.Val451=) c.23G>A c.1221G>A (p.Val407=) c.972G>A (p.Val324=) | |
3 | g.133766300G>C | CA435815592 | TF | c.1353G>C (p.Val451=) c.23G>C c.1221G>C (p.Val407=) c.972G>C (p.Val324=) | |
3 | g.133766300G>T | CA435815593 | TF | c.1353G>T (p.Val451=) c.23G>T c.1221G>T (p.Val407=) c.972G>T (p.Val324=) | |
3 | g.133766301A>C | CA354608557 | TF | c.1354A>C (p.Lys452Gln) c.24A>C c.1222A>C (p.Lys408Gln) c.973A>C (p.Lys325Gln) | |
3 | g.133766301A>G | CA354608558 | TF | c.1354A>G (p.Lys452Glu) c.24A>G c.1222A>G (p.Lys408Glu) c.973A>G (p.Lys325Glu) | |
3 | g.133766301A>T | CA354608559 | TF | c.1354A>T (p.Lys452Ter) c.24A>T c.1222A>T (p.Lys408Ter) c.973A>T (p.Lys325Ter) | |
3 | g.133766302_133766306del | CA2577907327 | TF | c.1355_1359del (p.Lys452IlefsTer4) c.25_29del c.1223_1227del (p.Lys408IlefsTer4) c.974_978del (p.Lys325IlefsTer4) | |
3 | g.133766302A>C | CA354608560 | TF | c.1355A>C (p.Lys452Thr) c.25A>C c.1223A>C (p.Lys408Thr) c.974A>C (p.Lys325Thr) | |
3 | g.133766302A>G | CA354608561 | TF | c.1355A>G (p.Lys452Arg) c.25A>G c.1223A>G (p.Lys408Arg) c.974A>G (p.Lys325Arg) | |
3 | g.133766302A>T | CA354608562 | TF | c.1355A>T (p.Lys452Met) c.25A>T c.1223A>T (p.Lys408Met) c.974A>T (p.Lys325Met) | |
3 | g.133766303G>A | CA435815594 | TF | c.1356G>A (p.Lys452=) c.26G>A c.1224G>A (p.Lys408=) c.975G>A (p.Lys325=) | |
3 | g.133766303G>C | CA354608563 | TF | c.1356G>C (p.Lys452Asn) c.26G>C c.1224G>C (p.Lys408Asn) c.975G>C (p.Lys325Asn) | |
3 | g.133766303G>T | CA354608564 | TF | c.1356G>T (p.Lys452Asn) c.26G>T c.1224G>T (p.Lys408Asn) c.975G>T (p.Lys325Asn) | gnomAD v4 COSMIC |
3 | g.133766304A>C | CA354608565 | TF | c.1357A>C (p.Lys453Gln) c.27A>C c.1225A>C (p.Lys409Gln) c.976A>C (p.Lys326Gln) | gnomAD v4 |
3 | g.133766304A>G | CA354608567 | TF | c.1357A>G (p.Lys453Glu) c.27A>G c.1225A>G (p.Lys409Glu) c.976A>G (p.Lys326Glu) | |
3 | g.133766304A>T | CA354608566 | TF | c.1357A>T (p.Lys453Ter) c.27A>T c.1225A>T (p.Lys409Ter) c.976A>T (p.Lys326Ter) | COSMIC |
3 | g.133766305A>C | CA354608568 | TF | c.1358A>C (p.Lys453Thr) c.28A>C c.1226A>C (p.Lys409Thr) c.977A>C (p.Lys326Thr) | |
3 | g.133766305A>G | CA354608569 | TF | c.1358A>G (p.Lys453Arg) c.28A>G c.1226A>G (p.Lys409Arg) c.977A>G (p.Lys326Arg) | |
3 | g.133766305A>T | CA354608570 | TF | c.1358A>T (p.Lys453Ile) c.28A>T c.1226A>T (p.Lys409Ile) c.977A>T (p.Lys326Ile) | |
3 | g.133766306A= | CA1403119336 | TF | c.1359A= (p.Lys453=) c.29A= c.1227A= (p.Lys409=) c.978A= (p.Lys326=) | |
3 | g.133766306A>C | CA354608571 | TF | c.1359A>C (p.Lys453Asn) c.29A>C c.1227A>C (p.Lys409Asn) c.978A>C (p.Lys326Asn) | |
3 | g.133766306A>G | CA435815595 | TF | c.1359A>G (p.Lys453=) c.29A>G c.1227A>G (p.Lys409=) c.978A>G (p.Lys326=) | dbSNP gnomAD v4 |
3 | g.133766306A>T | CA354608572 | TF | c.1359A>T (p.Lys453Asn) c.29A>T c.1227A>T (p.Lys409Asn) c.978A>T (p.Lys326Asn) | |
3 | g.133766307T>A | CA354608573 | TF | c.1360T>A (p.Ser454Thr) c.30T>A c.1228T>A (p.Ser410Thr) c.979T>A (p.Ser327Thr) | gnomAD v4 |
3 | g.133766307T>C | CA354608574 | TF | c.1360T>C (p.Ser454Pro) c.30T>C c.1228T>C (p.Ser410Pro) c.979T>C (p.Ser327Pro) | |
3 | g.133766307T>G | CA354608575 | TF | c.1360T>G (p.Ser454Ala) c.30T>G c.1228T>G (p.Ser410Ala) c.979T>G (p.Ser327Ala) | COSMIC |
3 | g.133766308C>A | CA354608576 | TF | c.1361C>A (p.Ser454Ter) c.31C>A c.1229C>A (p.Ser410Ter) c.980C>A (p.Ser327Ter) | gnomAD v4 |
3 | g.133766308C>G | CA354608577 | TF | c.1361C>G (p.Ser454Ter) c.31C>G c.1229C>G (p.Ser410Ter) c.980C>G (p.Ser327Ter) | |
3 | g.133766308C>T | CA354608578 | TF | c.1361C>T (p.Ser454Leu) c.31C>T c.1229C>T (p.Ser410Leu) c.980C>T (p.Ser327Leu) | |
3 | g.133766309A>C | CA435815596 | TF | c.1362A>C (p.Ser454=) c.32A>C c.1230A>C (p.Ser410=) c.981A>C (p.Ser327=) | |
3 | g.133766309A>G | CA435815597 | TF | c.1362A>G (p.Ser454=) c.32A>G c.1230A>G (p.Ser410=) c.981A>G (p.Ser327=) | gnomAD v4 |
3 | g.133766309A>T | CA435815598 | TF | c.1362A>T (p.Ser454=) c.32A>T c.1230A>T (p.Ser410=) c.981A>T (p.Ser327=) | |
3 | g.133766310G>A | CA354608580 | TF | c.1363G>A (p.Ala455Thr) c.33G>A c.1231G>A (p.Ala411Thr) c.982G>A (p.Ala328Thr) | |
3 | g.133766310G>C | CA354608579 | TF | c.1363G>C (p.Ala455Pro) c.33G>C c.1231G>C (p.Ala411Pro) c.982G>C (p.Ala328Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766310G= | CA1403119342 | TF | c.1363G= (p.Ala455=) c.33G= c.1231G= (p.Ala411=) c.982G= (p.Ala328=) | |
3 | g.133766310G>T | CA83685535 | TF | c.1363G>T (p.Ala455Ser) c.33G>T c.1231G>T (p.Ala411Ser) c.982G>T (p.Ala328Ser) | dbSNP gnomAD v4 COSMIC |
3 | g.133766311C>A | CA354608581 | TF | c.1364C>A (p.Ala455Asp) c.34C>A c.1232C>A (p.Ala411Asp) c.983C>A (p.Ala328Asp) | |
3 | g.133766311C= | CA1403119345 | TF | c.1364C= (p.Ala455=) c.34C= c.1232C= (p.Ala411=) c.983C= (p.Ala328=) | |
3 | g.133766311C>G | CA354608582 | TF | c.1364C>G (p.Ala455Gly) c.34C>G c.1232C>G (p.Ala411Gly) c.983C>G (p.Ala328Gly) | |
3 | g.133766311C>T | CA2625290 | TF | c.1364C>T (p.Ala455Val) c.34C>T c.1232C>T (p.Ala411Val) c.983C>T (p.Ala328Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766312T>A | CA435815599 | TF | c.1365T>A (p.Ala455=) c.35T>A c.1233T>A (p.Ala411=) c.984T>A (p.Ala328=) | |
3 | g.133766312T>C | CA435815601 | TF | c.1365T>C (p.Ala455=) c.35T>C c.1233T>C (p.Ala411=) c.984T>C (p.Ala328=) | |
3 | g.133766312T>G | CA435815600 | TF | c.1365T>G (p.Ala455=) c.35T>G c.1233T>G (p.Ala411=) c.984T>G (p.Ala328=) | |
3 | g.133766313T>A | CA354608583 | TF | c.1366T>A (p.Ser456Thr) c.36T>A c.1234T>A (p.Ser412Thr) c.985T>A (p.Ser329Thr) | |
3 | g.133766313T>C | CA354608584 | TF | c.1366T>C (p.Ser456Pro) c.36T>C c.1234T>C (p.Ser412Pro) c.985T>C (p.Ser329Pro) | |
3 | g.133766313T>G | CA354608585 | TF | c.1366T>G (p.Ser456Ala) c.36T>G c.1234T>G (p.Ser412Ala) c.985T>G (p.Ser329Ala) | |
3 | g.133766314C>A | CA354608586 | TF | c.1367C>A (p.Ser456Tyr) c.37C>A c.1235C>A (p.Ser412Tyr) c.986C>A (p.Ser329Tyr) | |
3 | g.133766314C>G | CA354608587 | TF | c.1367C>G (p.Ser456Cys) c.37C>G c.1235C>G (p.Ser412Cys) c.986C>G (p.Ser329Cys) | |
3 | g.133766314C>T | CA354608588 | TF | c.1367C>T (p.Ser456Phe) c.37C>T c.1235C>T (p.Ser412Phe) c.986C>T (p.Ser329Phe) | |
3 | g.133766315T>A | CA435815602 | TF | c.1368T>A (p.Ser456=) c.38T>A c.1236T>A (p.Ser412=) c.987T>A (p.Ser329=) | |
3 | g.133766315T>C | CA435815603 | TF | c.1368T>C (p.Ser456=) c.38T>C c.1236T>C (p.Ser412=) c.987T>C (p.Ser329=) | |
3 | g.133766315T>G | CA435815604 | TF | c.1368T>G (p.Ser456=) c.38T>G c.1236T>G (p.Ser412=) c.987T>G (p.Ser329=) | |
3 | g.133766316G>A | CA354608589 | TF | c.1369G>A (p.Asp457Asn) c.39G>A c.1237G>A (p.Asp413Asn) c.988G>A (p.Asp330Asn) | |
3 | g.133766316G>C | CA354608590 | TF | c.1369G>C (p.Asp457His) c.39G>C c.1237G>C (p.Asp413His) c.988G>C (p.Asp330His) | |
3 | g.133766316G>T | CA354608591 | TF | c.1369G>T (p.Asp457Tyr) c.39G>T c.1237G>T (p.Asp413Tyr) c.988G>T (p.Asp330Tyr) | gnomAD v4 |
3 | g.133766317A= | CA1403119349 | TF | c.1370A= (p.Asp457=) c.40A= c.1238A= (p.Asp413=) c.989A= (p.Asp330=) | |
3 | g.133766317A>C | CA354608594 | TF | c.1370A>C (p.Asp457Ala) c.40A>C c.1238A>C (p.Asp413Ala) c.989A>C (p.Asp330Ala) | dbSNP |
3 | g.133766317A>G | CA354608593 | TF | c.1370A>G (p.Asp457Gly) c.40A>G c.1238A>G (p.Asp413Gly) c.989A>G (p.Asp330Gly) | |
3 | g.133766317A>T | CA354608592 | TF | c.1370A>T (p.Asp457Val) c.40A>T c.1238A>T (p.Asp413Val) c.989A>T (p.Asp330Val) | |
3 | g.133766318C>A | CA2625291 | TF | c.1371C>A (p.Asp457Glu) c.41C>A c.1239C>A (p.Asp413Glu) c.990C>A (p.Asp330Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766318C= | CA1403119352 | TF | c.1371C= (p.Asp457=) c.41C= c.1239C= (p.Asp413=) c.990C= (p.Asp330=) | |
3 | g.133766318C>G | CA354608595 | TF | c.1371C>G (p.Asp457Glu) c.41C>G c.1239C>G (p.Asp413Glu) c.990C>G (p.Asp330Glu) | |
3 | g.133766318C>T | CA435815605 | TF | c.1371C>T (p.Asp457=) c.41C>T c.1239C>T (p.Asp413=) c.990C>T (p.Asp330=) | |
3 | g.133766319C>A | CA354608596 | TF | c.1372C>A (p.Leu458Ile) c.42C>A c.1240C>A (p.Leu414Ile) c.991C>A (p.Leu331Ile) | |
3 | g.133766319C>G | CA354608597 | TF | c.1372C>G (p.Leu458Val) c.42C>G c.1240C>G (p.Leu414Val) c.991C>G (p.Leu331Val) | |
3 | g.133766319C>T | CA354608598 | TF | c.1372C>T (p.Leu458Phe) c.42C>T c.1240C>T (p.Leu414Phe) c.991C>T (p.Leu331Phe) | gnomAD v4 |
3 | g.133766320T>A | CA354608599 | TF | c.1373T>A (p.Leu458His) c.43T>A c.1241T>A (p.Leu414His) c.992T>A (p.Leu331His) | |
3 | g.133766320T>C | CA354608600 | TF | c.1373T>C (p.Leu458Pro) c.43T>C c.1241T>C (p.Leu414Pro) c.992T>C (p.Leu331Pro) | |
3 | g.133766320T>G | CA354608601 | TF | c.1373T>G (p.Leu458Arg) c.43T>G c.1241T>G (p.Leu414Arg) c.992T>G (p.Leu331Arg) | |
3 | g.133766321C>A | CA435815606 | TF | c.1374C>A (p.Leu458=) c.44C>A c.1242C>A (p.Leu414=) c.993C>A (p.Leu331=) | |
3 | g.133766321C= | CA1403119355 | TF | c.1374C= (p.Leu458=) c.44C= c.1242C= (p.Leu414=) c.993C= (p.Leu331=) | |
3 | g.133766321C>G | CA435815607 | TF | c.1374C>G (p.Leu458=) c.44C>G c.1242C>G (p.Leu414=) c.993C>G (p.Leu331=) | |
3 | g.133766321C>T | CA435815608 | TF | c.1374C>T (p.Leu458=) c.44C>T c.1242C>T (p.Leu414=) c.993C>T (p.Leu331=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766322A= | CA1403119358 | TF | c.1375A= (p.Thr459=) c.45A= c.1243A= (p.Thr415=) c.994A= (p.Thr332=) | |
3 | g.133766322A>C | CA354608602 | TF | c.1375A>C (p.Thr459Pro) c.45A>C c.1243A>C (p.Thr415Pro) c.994A>C (p.Thr332Pro) | dbSNP |
3 | g.133766322A>G | CA83685545 | TF | c.1375A>G (p.Thr459Ala) c.45A>G c.1243A>G (p.Thr415Ala) c.994A>G (p.Thr332Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766322A>T | CA354608603 | TF | c.1375A>T (p.Thr459Ser) c.45A>T c.1243A>T (p.Thr415Ser) c.994A>T (p.Thr332Ser) | |
3 | g.133766323C>A | CA354608604 | TF | c.1376C>A (p.Thr459Asn) c.46C>A c.1244C>A (p.Thr415Asn) c.995C>A (p.Thr332Asn) | |
3 | g.133766323C>G | CA354608605 | TF | c.1376C>G (p.Thr459Ser) c.46C>G c.1244C>G (p.Thr415Ser) c.995C>G (p.Thr332Ser) | gnomAD v4 |
3 | g.133766323C>T | CA354608606 | TF | c.1376C>T (p.Thr459Ile) c.46C>T c.1244C>T (p.Thr415Ile) c.995C>T (p.Thr332Ile) | |
3 | g.133766324C>A | CA435815609 | TF | c.1377C>A (p.Thr459=) c.47C>A c.1245C>A (p.Thr415=) c.996C>A (p.Thr332=) | |
3 | g.133766324C= | CA1403119360 | TF | c.1377C= (p.Thr459=) c.47C= c.1245C= (p.Thr415=) c.996C= (p.Thr332=) | |
3 | g.133766324C>G | CA435815610 | TF | c.1377C>G (p.Thr459=) c.47C>G c.1245C>G (p.Thr415=) c.996C>G (p.Thr332=) | |
3 | g.133766324C>T | CA435815611 | TF | c.1377C>T (p.Thr459=) c.47C>T c.1245C>T (p.Thr415=) c.996C>T (p.Thr332=) | dbSNP gnomAD v2 |
3 | g.133766325T>A | CA354608609 | TF | c.1378T>A (p.Trp460Arg) c.48T>A c.1246T>A (p.Trp416Arg) c.997T>A (p.Trp333Arg) | |
3 | g.133766325T>C | CA354608608 | TF | c.1378T>C (p.Trp460Arg) c.48T>C c.1246T>C (p.Trp416Arg) c.997T>C (p.Trp333Arg) | |
3 | g.133766325T>G | CA354608607 | TF | c.1378T>G (p.Trp460Gly) c.48T>G c.1246T>G (p.Trp416Gly) c.997T>G (p.Trp333Gly) | |
3 | g.133766326G>A | CA354608610 | TF | c.1379G>A (p.Trp460Ter) c.49G>A c.1247G>A (p.Trp416Ter) c.998G>A (p.Trp333Ter) | |
3 | g.133766326G>C | CA354608611 | TF | c.1379G>C (p.Trp460Ser) c.49G>C c.1247G>C (p.Trp416Ser) c.998G>C (p.Trp333Ser) | |
3 | g.133766326G>T | CA354608612 | TF | c.1379G>T (p.Trp460Leu) c.49G>T c.1247G>T (p.Trp416Leu) c.998G>T (p.Trp333Leu) | |
3 | g.133766327G>A | CA354608613 | TF | c.1380G>A (p.Trp460Ter) c.50G>A c.1248G>A (p.Trp416Ter) c.999G>A (p.Trp333Ter) | |
3 | g.133766327G>C | CA354608614 | TF | c.1380G>C (p.Trp460Cys) c.50G>C c.1248G>C (p.Trp416Cys) c.999G>C (p.Trp333Cys) | |
3 | g.133766327G>T | CA354608615 | TF | c.1380G>T (p.Trp460Cys) c.50G>T c.1248G>T (p.Trp416Cys) c.999G>T (p.Trp333Cys) | |
3 | g.133766328G>A | CA354608616 | TF | c.1381G>A (p.Asp461Asn) c.51G>A c.1249G>A (p.Asp417Asn) c.1000G>A (p.Asp334Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766328G>C | CA354608617 | TF | c.1381G>C (p.Asp461His) c.51G>C c.1249G>C (p.Asp417His) c.1000G>C (p.Asp334His) | |
3 | g.133766328G= | CA1403119362 | TF | c.1381G= (p.Asp461=) c.51G= c.1249G= (p.Asp417=) c.1000G= (p.Asp334=) | |
3 | g.133766328G>T | CA354608618 | TF | c.1381G>T (p.Asp461Tyr) c.51G>T c.1249G>T (p.Asp417Tyr) c.1000G>T (p.Asp334Tyr) | |
3 | g.133766329A>C | CA354608619 | TF | c.1382A>C (p.Asp461Ala) c.52A>C c.1250A>C (p.Asp417Ala) c.1001A>C (p.Asp334Ala) | |
3 | g.133766329A>G | CA354608620 | TF | c.1382A>G (p.Asp461Gly) c.52A>G c.1250A>G (p.Asp417Gly) c.1001A>G (p.Asp334Gly) | gnomAD v4 |
3 | g.133766329A>T | CA354608621 | TF | c.1382A>T (p.Asp461Val) c.52A>T c.1250A>T (p.Asp417Val) c.1001A>T (p.Asp334Val) | |
3 | g.133766330C>A | CA354608622 | TF | c.1383C>A (p.Asp461Glu) c.53C>A c.1251C>A (p.Asp417Glu) c.1002C>A (p.Asp334Glu) | |
3 | g.133766330C>G | CA354608623 | TF | c.1383C>G (p.Asp461Glu) c.53C>G c.1251C>G (p.Asp417Glu) c.1002C>G (p.Asp334Glu) | |
3 | g.133766330C>T | CA435815612 | TF | c.1383C>T (p.Asp461=) c.53C>T c.1251C>T (p.Asp417=) c.1002C>T (p.Asp334=) | |
3 | g.133766331A>C | CA354608625 | TF | c.1384A>C (p.Asn462His) c.54A>C c.1252A>C (p.Asn418His) c.1003A>C (p.Asn335His) | |
3 | g.133766331A>G | CA354608626 | TF | c.1384A>G (p.Asn462Asp) c.54A>G c.1252A>G (p.Asn418Asp) c.1003A>G (p.Asn335Asp) | |
3 | g.133766331A>T | CA354608624 | TF | c.1384A>T (p.Asn462Tyr) c.54A>T c.1252A>T (p.Asn418Tyr) c.1003A>T (p.Asn335Tyr) | |
3 | g.133766332A>C | CA354608627 | TF | c.1385A>C (p.Asn462Thr) c.55A>C c.1253A>C (p.Asn418Thr) c.1004A>C (p.Asn335Thr) | |
3 | g.133766332A>G | CA354608628 | TF | c.1385A>G (p.Asn462Ser) c.55A>G c.1253A>G (p.Asn418Ser) c.1004A>G (p.Asn335Ser) | |
3 | g.133766332A>T | CA354608629 | TF | c.1385A>T (p.Asn462Ile) c.55A>T c.1253A>T (p.Asn418Ile) c.1004A>T (p.Asn335Ile) | |
3 | g.133766333T>A | CA354608630 | TF | c.1386T>A (p.Asn462Lys) c.56T>A c.1254T>A (p.Asn418Lys) c.1005T>A (p.Asn335Lys) | |
3 | g.133766333T>C | CA435815613 | TF | c.1386T>C (p.Asn462=) c.56T>C c.1254T>C (p.Asn418=) c.1005T>C (p.Asn335=) | |
3 | g.133766333T>G | CA354608631 | TF | c.1386T>G (p.Asn462Lys) c.56T>G c.1254T>G (p.Asn418Lys) c.1005T>G (p.Asn335Lys) | |
3 | g.133766334C>A | CA354608632 | TF | c.1387C>A (p.Leu463Met) c.57C>A c.1255C>A (p.Leu419Met) c.1006C>A (p.Leu336Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.133766334C= | CA1403119364 | TF | c.1387C= (p.Leu463=) c.57C= c.1255C= (p.Leu419=) c.1006C= (p.Leu336=) | |
3 | g.133766334C>G | CA354608633 | TF | c.1387C>G (p.Leu463Val) c.57C>G c.1255C>G (p.Leu419Val) c.1006C>G (p.Leu336Val) | |
3 | g.133766334C>T | CA435815614 | TF | c.1387C>T (p.Leu463=) c.57C>T c.1255C>T (p.Leu419=) c.1006C>T (p.Leu336=) | |
3 | g.133766335T>A | CA354608634 | TF | c.1388T>A (p.Leu463Gln) c.58T>A c.1256T>A (p.Leu419Gln) c.1007T>A (p.Leu336Gln) | |
3 | g.133766335T>C | CA354608635 | TF | c.1388T>C (p.Leu463Pro) c.58T>C c.1256T>C (p.Leu419Pro) c.1007T>C (p.Leu336Pro) | |
3 | g.133766335T>G | CA354608636 | TF | c.1388T>G (p.Leu463Arg) c.58T>G c.1256T>G (p.Leu419Arg) c.1007T>G (p.Leu336Arg) | gnomAD v4 |
3 | g.133766336G>A | CA435815615 | TF | c.1389G>A (p.Leu463=) c.59G>A c.1257G>A (p.Leu419=) c.1008G>A (p.Leu336=) | |
3 | g.133766336G>C | CA435815616 | TF | c.1389G>C (p.Leu463=) c.59G>C c.1257G>C (p.Leu419=) c.1008G>C (p.Leu336=) | |
3 | g.133766336G>T | CA435815617 | TF | c.1389G>T (p.Leu463=) c.59G>T c.1257G>T (p.Leu419=) c.1008G>T (p.Leu336=) | |
3 | g.133766337A>C | CA354608637 | TF | c.1390A>C (p.Lys464Gln) c.60A>C c.1258A>C (p.Lys420Gln) c.1009A>C (p.Lys337Gln) | |
3 | g.133766337A>G | CA354608638 | TF | c.1390A>G (p.Lys464Glu) c.60A>G c.1258A>G (p.Lys420Glu) c.1009A>G (p.Lys337Glu) | |
3 | g.133766337A>T | CA354608639 | TF | c.1390A>T (p.Lys464Ter) c.60A>T c.1258A>T (p.Lys420Ter) c.1009A>T (p.Lys337Ter) | |
3 | g.133766338A= | CA1403119368 | TF | c.1391A= (p.Lys464=) c.61A= c.1259A= (p.Lys420=) c.1010A= (p.Lys337=) | |
3 | g.133766338A>C | CA354608640 | TF | c.1391A>C (p.Lys464Thr) c.61A>C c.1259A>C (p.Lys420Thr) c.1010A>C (p.Lys337Thr) | |
3 | g.133766338A>G | CA354608641 | TF | c.1391A>G (p.Lys464Arg) c.61A>G c.1259A>G (p.Lys420Arg) c.1010A>G (p.Lys337Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766338A>T | CA2625292 | TF | c.1391A>T (p.Lys464Ile) c.61A>T c.1259A>T (p.Lys420Ile) c.1010A>T (p.Lys337Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766339A>C | CA354608642 | TF | c.1392A>C (p.Lys464Asn) c.62A>C c.1260A>C (p.Lys420Asn) c.1011A>C (p.Lys337Asn) | |
3 | g.133766339A>G | CA435815618 | TF | c.1392A>G (p.Lys464=) c.62A>G c.1260A>G (p.Lys420=) c.1011A>G (p.Lys337=) | |
3 | g.133766339A>T | CA354608643 | TF | c.1392A>T (p.Lys464Asn) c.62A>T c.1260A>T (p.Lys420Asn) c.1011A>T (p.Lys337Asn) | |
3 | g.133766340G>A | CA354608644 | TF | c.1393G>A (p.Gly465Ser) c.63G>A c.1261G>A (p.Gly421Ser) c.1012G>A (p.Gly338Ser) | gnomAD v4 |
3 | g.133766340G>C | CA354608645 | TF | c.1393G>C (p.Gly465Arg) c.63G>C c.1261G>C (p.Gly421Arg) c.1012G>C (p.Gly338Arg) | |
3 | g.133766340G>T | CA354608646 | TF | c.1393G>T (p.Gly465Cys) c.63G>T c.1261G>T (p.Gly421Cys) c.1012G>T (p.Gly338Cys) | |
3 | g.133766341G>A | CA354608647 | TF | c.1394G>A (p.Gly465Asp) c.64G>A c.1262G>A (p.Gly421Asp) c.1013G>A (p.Gly338Asp) | |
3 | g.133766341G>C | CA354608648 | TF | c.1394G>C (p.Gly465Ala) c.64G>C c.1262G>C (p.Gly421Ala) c.1013G>C (p.Gly338Ala) | |
3 | g.133766341G>T | CA354608649 | TF | c.1394G>T (p.Gly465Val) c.64G>T c.1262G>T (p.Gly421Val) c.1013G>T (p.Gly338Val) | gnomAD v4 |
3 | g.133766342C>A | CA435815619 | TF | c.1395C>A (p.Gly465=) c.65C>A c.1263C>A (p.Gly421=) c.1014C>A (p.Gly338=) | dbSNP gnomAD v4 |
3 | g.133766342C= | CA1403119371 | TF | c.1395C= (p.Gly465=) c.65C= c.1263C= (p.Gly421=) c.1014C= (p.Gly338=) | |
3 | g.133766342C>G | CA435815620 | TF | c.1395C>G (p.Gly465=) c.65C>G c.1263C>G (p.Gly421=) c.1014C>G (p.Gly338=) | |
3 | g.133766342C>T | CA435815621 | TF | c.1395C>T (p.Gly465=) c.65C>T c.1263C>T (p.Gly421=) c.1014C>T (p.Gly338=) | |
3 | g.133766343A>C | CA354608650 | TF | c.1396A>C (p.Lys466Gln) c.66A>C c.1264A>C (p.Lys422Gln) c.1015A>C (p.Lys339Gln) | |
3 | g.133766343A>G | CA354608651 | TF | c.1396A>G (p.Lys466Glu) c.66A>G c.1264A>G (p.Lys422Glu) c.1015A>G (p.Lys339Glu) | |
3 | g.133766343A>T | CA354608652 | TF | c.1396A>T (p.Lys466Ter) c.66A>T c.1264A>T (p.Lys422Ter) c.1015A>T (p.Lys339Ter) | |
3 | g.133766344A>C | CA354608654 | TF | c.1397A>C (p.Lys466Thr) c.67A>C c.1265A>C (p.Lys422Thr) c.1016A>C (p.Lys339Thr) | |
3 | g.133766344A>G | CA354608655 | TF | c.1397A>G (p.Lys466Arg) c.67A>G c.1265A>G (p.Lys422Arg) c.1016A>G (p.Lys339Arg) | |
3 | g.133766344A>T | CA354608653 | TF | c.1397A>T (p.Lys466Met) c.67A>T c.1265A>T (p.Lys422Met) c.1016A>T (p.Lys339Met) | |
3 | g.133766345G>A | CA435815622 | TF | c.1398G>A (p.Lys466=) c.68G>A c.1266G>A (p.Lys422=) c.1017G>A (p.Lys339=) | |
3 | g.133766345G>C | CA354608656 | TF | c.1398G>C (p.Lys466Asn) c.68G>C c.1266G>C (p.Lys422Asn) c.1017G>C (p.Lys339Asn) | |
3 | g.133766345G>T | CA354608657 | TF | c.1398G>T (p.Lys466Asn) c.68G>T c.1266G>T (p.Lys422Asn) c.1017G>T (p.Lys339Asn) | |
3 | g.133766346A>C | CA354608658 | TF | c.1399A>C (p.Lys467Gln) c.69A>C c.1267A>C (p.Lys423Gln) c.1018A>C (p.Lys340Gln) | |
3 | g.133766346A>G | CA354608659 | TF | c.1399A>G (p.Lys467Glu) c.69A>G c.1267A>G (p.Lys423Glu) c.1018A>G (p.Lys340Glu) | |
3 | g.133766346A>T | CA354608660 | TF | c.1399A>T (p.Lys467Ter) c.69A>T c.1267A>T (p.Lys423Ter) c.1018A>T (p.Lys340Ter) | |
3 | g.133766347A>C | CA354608661 | TF | c.1400A>C (p.Lys467Thr) c.70A>C c.1268A>C (p.Lys423Thr) c.1019A>C (p.Lys340Thr) | gnomAD v4 |
3 | g.133766347A>G | CA354608662 | TF | c.1400A>G (p.Lys467Arg) c.70A>G c.1268A>G (p.Lys423Arg) c.1019A>G (p.Lys340Arg) | |
3 | g.133766347A>T | CA354608663 | TF | c.1400A>T (p.Lys467Met) c.70A>T c.1268A>T (p.Lys423Met) c.1019A>T (p.Lys340Met) | gnomAD v4 |
3 | g.133766348G>A | CA435815623 | TF | c.1401G>A (p.Lys467=) c.71G>A c.1269G>A (p.Lys423=) c.1020G>A (p.Lys340=) | |
3 | g.133766348G>C | CA2625293 | TF | c.1401G>C (p.Lys467Asn) c.71G>C c.1269G>C (p.Lys423Asn) c.1020G>C (p.Lys340Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766348G= | CA1403119373 | TF | c.1401G= (p.Lys467=) c.71G= c.1269G= (p.Lys423=) c.1020G= (p.Lys340=) | |
3 | g.133766348G>T | CA354608664 | TF | c.1401G>T (p.Lys467Asn) c.71G>T c.1269G>T (p.Lys423Asn) c.1020G>T (p.Lys340Asn) | |
3 | g.133766349T>A | CA354608665 | TF | c.1402T>A (p.Ser468Thr) c.72T>A c.1270T>A (p.Ser424Thr) c.1021T>A (p.Ser341Thr) | |
3 | g.133766349T>C | CA354608666 | TF | c.1402T>C (p.Ser468Pro) c.72T>C c.1270T>C (p.Ser424Pro) c.1021T>C (p.Ser341Pro) | dbSNP gnomAD v2 |
3 | g.133766349T>G | CA354608667 | TF | c.1402T>G (p.Ser468Ala) c.72T>G c.1270T>G (p.Ser424Ala) c.1021T>G (p.Ser341Ala) | |
3 | g.133766349T= | CA1403119377 | TF | c.1402T= (p.Ser468=) c.72T= c.1270T= (p.Ser424=) c.1021T= (p.Ser341=) | |
3 | g.133766350C>A | CA354608668 | TF | c.1403C>A (p.Ser468Tyr) c.73C>A c.1271C>A (p.Ser424Tyr) c.1022C>A (p.Ser341Tyr) | |
3 | g.133766350C>G | CA354608669 | TF | c.1403C>G (p.Ser468Cys) c.73C>G c.1271C>G (p.Ser424Cys) c.1022C>G (p.Ser341Cys) | |
3 | g.133766350C>T | CA354608670 | TF | c.1403C>T (p.Ser468Phe) c.73C>T c.1271C>T (p.Ser424Phe) c.1022C>T (p.Ser341Phe) | |
3 | g.133766351C>A | CA435815624 | TF | c.1404C>A (p.Ser468=) c.74C>A c.1272C>A (p.Ser424=) c.1023C>A (p.Ser341=) | |
3 | g.133766351C>G | CA435815625 | TF | c.1404C>G (p.Ser468=) c.74C>G c.1272C>G (p.Ser424=) c.1023C>G (p.Ser341=) | |
3 | g.133766351C>T | CA435815626 | TF | c.1404C>T (p.Ser468=) c.74C>T c.1272C>T (p.Ser424=) c.1023C>T (p.Ser341=) | |
3 | g.133766352T>A | CA354608671 | TF | c.1405T>A (p.Cys469Ser) c.75T>A c.1273T>A (p.Cys425Ser) c.1024T>A (p.Cys342Ser) | |
3 | g.133766352T>C | CA354608673 | TF | c.1405T>C (p.Cys469Arg) c.75T>C c.1273T>C (p.Cys425Arg) c.1024T>C (p.Cys342Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766352T>G | CA354608672 | TF | c.1405T>G (p.Cys469Gly) c.75T>G c.1273T>G (p.Cys425Gly) c.1024T>G (p.Cys342Gly) | |
3 | g.133766352T= | CA1403119379 | TF | c.1405T= (p.Cys469=) c.75T= c.1273T= (p.Cys425=) c.1024T= (p.Cys342=) | |
3 | g.133766353G>A | CA354608674 | TF | c.1406G>A (p.Cys469Tyr) c.76G>A c.1274G>A (p.Cys425Tyr) c.1025G>A (p.Cys342Tyr) | |
3 | g.133766353G>C | CA354608675 | TF | c.1406G>C (p.Cys469Ser) c.76G>C c.1274G>C (p.Cys425Ser) c.1025G>C (p.Cys342Ser) | |
3 | g.133766353G>T | CA354608676 | TF | c.1406G>T (p.Cys469Phe) c.76G>T c.1274G>T (p.Cys425Phe) c.1025G>T (p.Cys342Phe) | |
3 | g.133766354C>A | CA354608677 | TF | c.1407C>A (p.Cys469Ter) c.77C>A c.1275C>A (p.Cys425Ter) c.1026C>A (p.Cys342Ter) | |
3 | g.133766354C>G | CA354608678 | TF | c.1407C>G (p.Cys469Trp) c.77C>G c.1275C>G (p.Cys425Trp) c.1026C>G (p.Cys342Trp) | |
3 | g.133766354C>T | CA435815627 | TF | c.1407C>T (p.Cys469=) c.77C>T c.1275C>T (p.Cys425=) c.1026C>T (p.Cys342=) | |
3 | g.133766354_133766355delinsAA | CA645516345 | TF | c.1407_1408delinsAA (p.Cys469Ter) c.77_78delinsAA c.1275_1276delinsAA (p.Cys425Ter) c.1026_1027delinsAA (p.Cys342Ter) | COSMIC |
3 | g.133766355C>A | CA354608679 | TF | c.1408C>A (p.His470Asn) c.78C>A c.1276C>A (p.His426Asn) c.1027C>A (p.His343Asn) | |
3 | g.133766355C= | CA1403119381 | TF | c.1408C= (p.His470=) c.78C= c.1276C= (p.His426=) c.1027C= (p.His343=) | |
3 | g.133766355C>G | CA354608680 | TF | c.1408C>G (p.His470Asp) c.78C>G c.1276C>G (p.His426Asp) c.1027C>G (p.His343Asp) | |
3 | g.133766355C>T | CA83685551 | TF | c.1408C>T (p.His470Tyr) c.78C>T c.1276C>T (p.His426Tyr) c.1027C>T (p.His343Tyr) | dbSNP gnomAD v4 |
3 | g.133766356A>C | CA354608681 | TF | c.1409A>C (p.His470Pro) c.79A>C c.1277A>C (p.His426Pro) c.1028A>C (p.His343Pro) | dbSNP |
3 | g.133766356A>G | CA354608682 | TF | c.1409A>G (p.His470Arg) c.79A>G c.1277A>G (p.His426Arg) c.1028A>G (p.His343Arg) | |
3 | g.133766356A>T | CA354608683 | TF | c.1409A>T (p.His470Leu) c.79A>T c.1277A>T (p.His426Leu) c.1028A>T (p.His343Leu) | |
3 | g.133766357T>A | CA354608685 | TF | c.1410T>A (p.His470Gln) c.80T>A c.1278T>A (p.His426Gln) c.1029T>A (p.His343Gln) | |
3 | g.133766357T>C | CA435815628 | TF | c.1410T>C (p.His470=) c.80T>C c.1278T>C (p.His426=) c.1029T>C (p.His343=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766357T>G | CA354608684 | TF | c.1410T>G (p.His470Gln) c.80T>G c.1278T>G (p.His426Gln) c.1029T>G (p.His343Gln) | |
3 | g.133766357T= | CA1403119384 | TF | c.1410T= (p.His470=) c.80T= c.1278T= (p.His426=) c.1029T= (p.His343=) | |
3 | g.133766358A>C | CA354608686 | TF | c.1411A>C (p.Thr471Pro) c.81A>C c.1279A>C (p.Thr427Pro) c.1030A>C (p.Thr344Pro) | gnomAD v4 |
3 | g.133766358A>G | CA354608687 | TF | c.1411A>G (p.Thr471Ala) c.81A>G c.1279A>G (p.Thr427Ala) c.1030A>G (p.Thr344Ala) | |
3 | g.133766358A>T | CA354608688 | TF | c.1411A>T (p.Thr471Ser) c.81A>T c.1279A>T (p.Thr427Ser) c.1030A>T (p.Thr344Ser) | |
3 | g.133766359C>A | CA354608689 | TF | c.1412C>A (p.Thr471Lys) c.82C>A c.1280C>A (p.Thr427Lys) c.1031C>A (p.Thr344Lys) | gnomAD v4 |
3 | g.133766359C= | CA1403119389 | TF | c.1412C= (p.Thr471=) c.82C= c.1280C= (p.Thr427=) c.1031C= (p.Thr344=) | |
3 | g.133766359C>G | CA354608690 | TF | c.1412C>G (p.Thr471Arg) c.82C>G c.1280C>G (p.Thr427Arg) c.1031C>G (p.Thr344Arg) | gnomAD v4 |
3 | g.133766359C>T | CA2625294 | TF | c.1412C>T (p.Thr471Met) c.82C>T c.1280C>T (p.Thr427Met) c.1031C>T (p.Thr344Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766360G>A | CA435815629 | TF | c.1413G>A (p.Thr471=) c.83G>A c.1281G>A (p.Thr427=) c.1032G>A (p.Thr344=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766360G>C | CA435815630 | TF | c.1413G>C (p.Thr471=) c.83G>C c.1281G>C (p.Thr427=) c.1032G>C (p.Thr344=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766360G= | CA1403119395 | TF | c.1413G= (p.Thr471=) c.83G= c.1281G= (p.Thr427=) c.1032G= (p.Thr344=) | |
3 | g.133766360G>T | CA435815631 | TF | c.1413G>T (p.Thr471=) c.83G>T c.1281G>T (p.Thr427=) c.1032G>T (p.Thr344=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766361G>A | CA354608693 | TF | c.1414G>A (p.Ala472Thr) c.84G>A c.1282G>A (p.Ala428Thr) c.1033G>A (p.Ala345Thr) | gnomAD v4 |
3 | g.133766361G>C | CA354608692 | TF | c.1414G>C (p.Ala472Pro) c.84G>C c.1282G>C (p.Ala428Pro) c.1033G>C (p.Ala345Pro) | |
3 | g.133766361G>T | CA354608691 | TF | c.1414G>T (p.Ala472Ser) c.84G>T c.1282G>T (p.Ala428Ser) c.1033G>T (p.Ala345Ser) | |
3 | g.133766362_133766364del | CA2667768508 | TF | c.1415_1417del (p.Ala472del) c.85_87del c.1283_1285del (p.Ala428del) c.1034_1036del (p.Ala345del) | gnomAD v4 |
3 | g.133766362C>A | CA354608694 | TF | c.1415C>A (p.Ala472Glu) c.85C>A c.1283C>A (p.Ala428Glu) c.1034C>A (p.Ala345Glu) | |
3 | g.133766362C>G | CA354608695 | TF | c.1415C>G (p.Ala472Gly) c.85C>G c.1283C>G (p.Ala428Gly) c.1034C>G (p.Ala345Gly) | gnomAD v4 |
3 | g.133766362C>T | CA354608696 | TF | c.1415C>T (p.Ala472Val) c.85C>T c.1283C>T (p.Ala428Val) c.1034C>T (p.Ala345Val) | |
3 | g.133766363A= | CA1403119400 | TF | c.1416A= (p.Ala472=) c.86A= c.1284A= (p.Ala428=) c.1035A= (p.Ala345=) | |
3 | g.133766363A>C | CA435815632 | TF | c.1416A>C (p.Ala472=) c.86A>C c.1284A>C (p.Ala428=) c.1035A>C (p.Ala345=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766363A>G | CA435815633 | TF | c.1416A>G (p.Ala472=) c.86A>G c.1284A>G (p.Ala428=) c.1035A>G (p.Ala345=) | |
3 | g.133766363A>T | CA435815634 | TF | c.1416A>T (p.Ala472=) c.86A>T c.1284A>T (p.Ala428=) c.1035A>T (p.Ala345=) | |
3 | g.133766364G>A | CA354608697 | TF | c.1417G>A (p.Val473Ile) c.87G>A c.1285G>A (p.Val429Ile) c.1036G>A (p.Val346Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133766364G>C | CA354608698 | TF | c.1417G>C (p.Val473Leu) c.87G>C c.1285G>C (p.Val429Leu) c.1036G>C (p.Val346Leu) | |
3 | g.133766364G= | CA1403119403 | TF | c.1417G= (p.Val473=) c.87G= c.1285G= (p.Val429=) c.1036G= (p.Val346=) | |
3 | g.133766364G>T | CA354608699 | TF | c.1417G>T (p.Val473Phe) c.87G>T c.1285G>T (p.Val429Phe) c.1036G>T (p.Val346Phe) | |
3 | g.133766365T>A | CA354608700 | TF | c.1418T>A (p.Val473Asp) c.88T>A c.1286T>A (p.Val429Asp) c.1037T>A (p.Val346Asp) | |
3 | g.133766365T>C | CA354608702 | TF | c.1418T>C (p.Val473Ala) c.88T>C c.1286T>C (p.Val429Ala) c.1037T>C (p.Val346Ala) | dbSNP |
3 | g.133766365T>G | CA354608701 | TF | c.1418T>G (p.Val473Gly) c.88T>G c.1286T>G (p.Val429Gly) c.1037T>G (p.Val346Gly) | dbSNP gnomAD v2 |
3 | g.133766365T= | CA1403119410 | TF | c.1418T= (p.Val473=) c.88T= c.1286T= (p.Val429=) c.1037T= (p.Val346=) | |
3 | g.133766366T>A | CA435815635 | TF | c.1419T>A (p.Val473=) c.89T>A c.1287T>A (p.Val429=) c.1038T>A (p.Val346=) | gnomAD v4 |
3 | g.133766366T>C | CA435815636 | TF | c.1419T>C (p.Val473=) c.89T>C c.1287T>C (p.Val429=) c.1038T>C (p.Val346=) | |
3 | g.133766366T>G | CA435815637 | TF | c.1419T>G (p.Val473=) c.89T>G c.1287T>G (p.Val429=) c.1038T>G (p.Val346=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766366T= | CA1403119415 | TF | c.1419T= (p.Val473=) c.89T= c.1287T= (p.Val429=) c.1038T= (p.Val346=) | |
3 | g.133766367G>A | CA354608703 | TF | c.1420G>A (p.Gly474Ser) c.90G>A c.1288G>A (p.Gly430Ser) c.1039G>A (p.Gly347Ser) | gnomAD v4 |
3 | g.133766367G>C | CA354608704 | TF | c.1420G>C (p.Gly474Arg) c.90G>C c.1288G>C (p.Gly430Arg) c.1039G>C (p.Gly347Arg) | |
3 | g.133766367G>T | CA354608705 | TF | c.1420G>T (p.Gly474Cys) c.90G>T c.1288G>T (p.Gly430Cys) c.1039G>T (p.Gly347Cys) | |
3 | g.133766368G>A | CA354608706 | TF | c.1421G>A (p.Gly474Asp) c.91G>A c.1289G>A (p.Gly430Asp) c.1040G>A (p.Gly347Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766368G>C | CA354608707 | TF | c.1421G>C (p.Gly474Ala) c.91G>C c.1289G>C (p.Gly430Ala) c.1040G>C (p.Gly347Ala) | |
3 | g.133766368G= | CA1403119419 | TF | c.1421G= (p.Gly474=) c.91G= c.1289G= (p.Gly430=) c.1040G= (p.Gly347=) | |
3 | g.133766368G>T | CA354608708 | TF | c.1421G>T (p.Gly474Val) c.91G>T c.1289G>T (p.Gly430Val) c.1040G>T (p.Gly347Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766369C>A | CA435815638 | TF | c.1422C>A (p.Gly474=) c.92C>A c.1290C>A (p.Gly430=) c.1041C>A (p.Gly347=) | |
3 | g.133766369C>G | CA435815639 | TF | c.1422C>G (p.Gly474=) c.92C>G c.1290C>G (p.Gly430=) c.1041C>G (p.Gly347=) | |
3 | g.133766369C>T | CA435815640 | TF | c.1422C>T (p.Gly474=) c.92C>T c.1290C>T (p.Gly430=) c.1041C>T (p.Gly347=) | ClinVar |
3 | g.133766370A>C | CA435815641 | TF | c.1423A>C (p.Arg475=) c.93A>C c.1291A>C (p.Arg431=) c.1042A>C (p.Arg348=) | |
3 | g.133766370A>G | CA354608709 | TF | c.1423A>G (p.Arg475Gly) c.93A>G c.1291A>G (p.Arg431Gly) c.1042A>G (p.Arg348Gly) | |
3 | g.133766370A>T | CA354608710 | TF | c.1423A>T (p.Arg475Ter) c.93A>T c.1291A>T (p.Arg431Ter) c.1042A>T (p.Arg348Ter) | |
3 | g.133766371G>A | CA2625295 | TF | c.1424G>A (p.Arg475Lys) c.94G>A c.1292G>A (p.Arg431Lys) c.1043G>A (p.Arg348Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766371G>C | CA354608711 | TF | c.1424G>C (p.Arg475Thr) c.94G>C c.1292G>C (p.Arg431Thr) c.1043G>C (p.Arg348Thr) | COSMIC |
3 | g.133766371G= | CA1403119420 | TF | c.1424G= (p.Arg475=) c.94G= c.1292G= (p.Arg431=) c.1043G= (p.Arg348=) | |
3 | g.133766371G>T | CA354608712 | TF | c.1424G>T (p.Arg475Ile) c.94G>T c.1292G>T (p.Arg431Ile) c.1043G>T (p.Arg348Ile) | |
3 | g.133766372A= | CA1403119425 | TF | c.1425A= (p.Arg475=) c.95A= c.1293A= (p.Arg431=) c.1044A= (p.Arg348=) | |
3 | g.133766372A>C | CA354608713 | TF | c.1425A>C (p.Arg475Ser) c.95A>C c.1293A>C (p.Arg431Ser) c.1044A>C (p.Arg348Ser) | |
3 | g.133766372A>G | CA2625296 | TF | c.1425A>G (p.Arg475=) c.95A>G c.1293A>G (p.Arg431=) c.1044A>G (p.Arg348=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766372A>T | CA354608714 | TF | c.1425A>T (p.Arg475Ser) c.95A>T c.1293A>T (p.Arg431Ser) c.1044A>T (p.Arg348Ser) | |
3 | g.133766373A>C | CA354608715 | TF | c.1426A>C (p.Thr476Pro) c.96A>C c.1294A>C (p.Thr432Pro) c.1045A>C (p.Thr349Pro) | |
3 | g.133766373A>G | CA354608716 | TF | c.1426A>G (p.Thr476Ala) c.96A>G c.1294A>G (p.Thr432Ala) c.1045A>G (p.Thr349Ala) | |
3 | g.133766373A>T | CA354608717 | TF | c.1426A>T (p.Thr476Ser) c.96A>T c.1294A>T (p.Thr432Ser) c.1045A>T (p.Thr349Ser) | |
3 | g.133766374C>A | CA354608718 | TF | c.1427C>A (p.Thr476Asn) c.97C>A c.1295C>A (p.Thr432Asn) c.1046C>A (p.Thr349Asn) | |
3 | g.133766374C>G | CA354608719 | TF | c.1427C>G (p.Thr476Ser) c.97C>G c.1295C>G (p.Thr432Ser) c.1046C>G (p.Thr349Ser) | |
3 | g.133766374C>T | CA354608720 | TF | c.1427C>T (p.Thr476Ile) c.97C>T c.1295C>T (p.Thr432Ile) c.1046C>T (p.Thr349Ile) | |
3 | g.133766375C>A | CA435815643 | TF | c.1428C>A (p.Thr476=) c.98C>A c.1296C>A (p.Thr432=) c.1047C>A (p.Thr349=) | |
3 | g.133766375C= | CA1403119428 | TF | c.1428C= (p.Thr476=) c.98C= c.1296C= (p.Thr432=) c.1047C= (p.Thr349=) | |
3 | g.133766375C>G | CA435815642 | TF | c.1428C>G (p.Thr476=) c.98C>G c.1296C>G (p.Thr432=) c.1047C>G (p.Thr349=) | |
3 | g.133766375C>T | CA2625297 | TF | c.1428C>T (p.Thr476=) c.98C>T c.1296C>T (p.Thr432=) c.1047C>T (p.Thr349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133766376G>A | CA2625298 | TF | c.1429G>A (p.Ala477Thr) c.99G>A c.1297G>A (p.Ala433Thr) c.1048G>A (p.Ala350Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766376G>C | CA122567 | TF | c.1429G>C (p.Ala477Pro) c.99G>C c.1297G>C (p.Ala433Pro) c.1048G>C (p.Ala350Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.133766376G= | CA1403119434 | TF | c.1429G= (p.Ala477=) c.99G= c.1297G= (p.Ala433=) c.1048G= (p.Ala350=) | |
3 | g.133766376G>T | CA354608721 | TF | c.1429G>T (p.Ala477Ser) c.99G>T c.1297G>T (p.Ala433Ser) c.1048G>T (p.Ala350Ser) | dbSNP gnomAD v4 |
3 | g.133766377C>A | CA354608722 | TF | c.1430C>A (p.Ala477Asp) c.100C>A c.1298C>A (p.Ala433Asp) c.1049C>A (p.Ala350Asp) | |
3 | g.133766377C>G | CA354608723 | TF | c.1430C>G (p.Ala477Gly) c.100C>G c.1298C>G (p.Ala433Gly) c.1049C>G (p.Ala350Gly) | |
3 | g.133766377C>T | CA354608724 | TF | c.1430C>T (p.Ala477Val) c.100C>T c.1298C>T (p.Ala433Val) c.1049C>T (p.Ala350Val) | |
3 | g.133766378T>A | CA435815644 | TF | c.1431T>A (p.Ala477=) c.101T>A c.1299T>A (p.Ala433=) c.1050T>A (p.Ala350=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133766378T>C | CA2625299 | TF | c.1431T>C (p.Ala477=) c.101T>C c.1299T>C (p.Ala433=) c.1050T>C (p.Ala350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133766378T>G | CA435815645 | TF | c.1431T>G (p.Ala477=) c.101T>G c.1299T>G (p.Ala433=) c.1050T>G (p.Ala350=) | |
3 | g.133766378T= | CA1403119441 | TF | c.1431T= (p.Ala477=) c.101T= c.1299T= (p.Ala433=) c.1050T= (p.Ala350=) | |
3 | g.133766379G>A | CA354608727 | TF | c.1432G>A (p.Gly478Ser) c.102G>A c.1300G>A (p.Gly434Ser) c.1051G>A (p.Gly351Ser) | |
3 | g.133766379G>C | CA354608725 | TF | c.1432G>C (p.Gly478Arg) c.102G>C c.1300G>C (p.Gly434Arg) c.1051G>C (p.Gly351Arg) | |
3 | g.133766379G>T | CA354608726 | TF | c.1432G>T (p.Gly478Cys) c.102G>T c.1300G>T (p.Gly434Cys) c.1051G>T (p.Gly351Cys) | |
3 | g.133766380G>A | CA354608728 | TF | c.1433G>A (p.Gly478Asp) c.103G>A c.1301G>A (p.Gly434Asp) c.1052G>A (p.Gly351Asp) | |
3 | g.133766380G>C | CA354608729 | TF | c.1433G>C (p.Gly478Ala) c.103G>C c.1301G>C (p.Gly434Ala) c.1052G>C (p.Gly351Ala) | |
3 | g.133766380G= | CA1403119445 | TF | c.1433G= (p.Gly478=) c.103G= c.1301G= (p.Gly434=) c.1052G= (p.Gly351=) | |
3 | g.133766380G>T | CA354608730 | TF | c.1433G>T (p.Gly478Val) c.103G>T c.1301G>T (p.Gly434Val) c.1052G>T (p.Gly351Val) | dbSNP gnomAD v4 |