Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.232542901C>A | CA431810827 | CHRNG | c.624C>A (p.Ile208=) c.468C>A (p.Ile156=) | ClinVar |
2 | g.232542901C= | CA1335317474 | CHRNG | c.624C= (p.Ile208=) c.468C= (p.Ile156=) | |
2 | g.232542901C>G | CA351011528 | CHRNG | c.624C>G (p.Ile208Met) c.468C>G (p.Ile156Met) | |
2 | g.232542901C>T | CA2168752 | CHRNG | c.624C>T (p.Ile208=) c.468C>T (p.Ile156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542902C>A | CA351011531 | CHRNG | c.625C>A (p.Gln209Lys) c.469C>A (p.Gln157Lys) | |
2 | g.232542902C>G | CA351011533 | CHRNG | c.625C>G (p.Gln209Glu) c.469C>G (p.Gln157Glu) | |
2 | g.232542902C>T | CA351011534 | CHRNG | c.625C>T (p.Gln209Ter) c.469C>T (p.Gln157Ter) | gnomAD v4 |
2 | g.232542903A>C | CA351011539 | CHRNG | c.626A>C (p.Gln209Pro) c.470A>C (p.Gln157Pro) | |
2 | g.232542903A>G | CA351011536 | CHRNG | c.626A>G (p.Gln209Arg) c.470A>G (p.Gln157Arg) | gnomAD v4 |
2 | g.232542903A>T | CA351011538 | CHRNG | c.626A>T (p.Gln209Leu) c.470A>T (p.Gln157Leu) | |
2 | g.232542904G>A | CA431810828 | CHRNG | c.627G>A (p.Gln209=) c.471G>A (p.Gln157=) | |
2 | g.232542904G>C | CA351011541 | CHRNG | c.627G>C (p.Gln209His) c.471G>C (p.Gln157His) | |
2 | g.232542904G>T | CA351011543 | CHRNG | c.627G>T (p.Gln209His) c.471G>T (p.Gln157His) | gnomAD v4 |
2 | g.232542905C>A | CA351011545 | CHRNG | c.628C>A (p.His210Asn) c.472C>A (p.His158Asn) | gnomAD v4 |
2 | g.232542905C>G | CA351011546 | CHRNG | c.628C>G (p.His210Asp) c.472C>G (p.His158Asp) | |
2 | g.232542905C>T | CA351011547 | CHRNG | c.628C>T (p.His210Tyr) c.472C>T (p.His158Tyr) | gnomAD v4 |
2 | g.232542906A>C | CA351011548 | CHRNG | c.629A>C (p.His210Pro) c.473A>C (p.His158Pro) | |
2 | g.232542906A>G | CA351011550 | CHRNG | c.629A>G (p.His210Arg) c.473A>G (p.His158Arg) | |
2 | g.232542906A>T | CA351011549 | CHRNG | c.629A>T (p.His210Leu) c.473A>T (p.His158Leu) | |
2 | g.232542907C>A | CA351011551 | CHRNG | c.630C>A (p.His210Gln) c.474C>A (p.His158Gln) | dbSNP |
2 | g.232542907C= | CA1335317475 | CHRNG | c.630C= (p.His210=) c.474C= (p.His158=) | |
2 | g.232542907C>G | CA351011552 | CHRNG | c.630C>G (p.His210Gln) c.474C>G (p.His158Gln) | |
2 | g.232542907C>T | CA431810832 | CHRNG | c.630C>T (p.His210=) c.474C>T (p.His158=) | |
2 | g.232542908C>A | CA431810833 | CHRNG | c.631C>A (p.Arg211=) c.475C>A (p.Arg159=) | ClinVar |
2 | g.232542908C= | CA1335317476 | CHRNG | c.631C= (p.Arg211=) c.475C= (p.Arg159=) | |
2 | g.232542908C>G | CA351011553 | CHRNG | c.631C>G (p.Arg211Gly) c.475C>G (p.Arg159Gly) | |
2 | g.232542908C>T | CA2168753 | CHRNG | c.631C>T (p.Arg211Ter) c.475C>T (p.Arg159Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232542909G>A | CA2168754 | CHRNG | c.632G>A (p.Arg211Gln) c.476G>A (p.Arg159Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.232542909G>C | CA2168755 | CHRNG | c.632G>C (p.Arg211Pro) c.476G>C (p.Arg159Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542909G= | CA1335317477 | CHRNG | c.632G= (p.Arg211=) c.476G= (p.Arg159=) | |
2 | g.232542909G>T | CA351011554 | CHRNG | c.632G>T (p.Arg211Leu) c.476G>T (p.Arg159Leu) | gnomAD v4 |
2 | g.232542910A>C | CA431810837 | CHRNG | c.633A>C (p.Arg211=) c.477A>C (p.Arg159=) | |
2 | g.232542910A>G | CA431810838 | CHRNG | c.633A>G (p.Arg211=) c.477A>G (p.Arg159=) | |
2 | g.232542910A>T | CA431810840 | CHRNG | c.633A>T (p.Arg211=) c.477A>T (p.Arg159=) | |
2 | g.232542911C>A | CA351011555 | CHRNG | c.634C>A (p.Pro212Thr) c.478C>A (p.Pro160Thr) | |
2 | g.232542911C= | CA1335317478 | CHRNG | c.634C= (p.Pro212=) c.478C= (p.Pro160=) | |
2 | g.232542911C>G | CA351011556 | CHRNG | c.634C>G (p.Pro212Ala) c.478C>G (p.Pro160Ala) | |
2 | g.232542911C>T | CA351011557 | CHRNG | c.634C>T (p.Pro212Ser) c.478C>T (p.Pro160Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542912C>A | CA351011558 | CHRNG | c.635C>A (p.Pro212Gln) c.479C>A (p.Pro160Gln) | |
2 | g.232542912C>G | CA351011559 | CHRNG | c.635C>G (p.Pro212Arg) c.479C>G (p.Pro160Arg) | |
2 | g.232542912C>T | CA351011560 | CHRNG | c.635C>T (p.Pro212Leu) c.479C>T (p.Pro160Leu) | |
2 | g.232542913A>C | CA431810842 | CHRNG | c.636A>C (p.Pro212=) c.480A>C (p.Pro160=) | |
2 | g.232542913A>G | CA431810843 | CHRNG | c.636A>G (p.Pro212=) c.480A>G (p.Pro160=) | |
2 | g.232542913A>T | CA431810844 | CHRNG | c.636A>T (p.Pro212=) c.480A>T (p.Pro160=) | |
2 | g.232542914G>A | CA2168756 | CHRNG | c.637G>A (p.Ala213Thr) c.481G>A (p.Ala161Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542914G>C | CA351011561 | CHRNG | c.637G>C (p.Ala213Pro) c.481G>C (p.Ala161Pro) | |
2 | g.232542914G= | CA1335317479 | CHRNG | c.637G= (p.Ala213=) c.481G= (p.Ala161=) | |
2 | g.232542914G>T | CA351011562 | CHRNG | c.637G>T (p.Ala213Ser) c.481G>T (p.Ala161Ser) | |
2 | g.232542915C>A | CA2168757 | CHRNG | c.638C>A (p.Ala213Asp) c.482C>A (p.Ala161Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232542915C= | CA1335317480 | CHRNG | c.638C= (p.Ala213=) c.482C= (p.Ala161=) | |
2 | g.232542915C>G | CA351011564 | CHRNG | c.638C>G (p.Ala213Gly) c.482C>G (p.Ala161Gly) | |
2 | g.232542915C>T | CA351011563 | CHRNG | c.638C>T (p.Ala213Val) c.482C>T (p.Ala161Val) | |
2 | g.232542915_232542920delinsCCAAGA | CA1335317481 | CHRNG | c.638_643delinsCCAAGA (p.Ala213=) c.482_487delinsCCAAGA (p.Ala161=) | |
2 | g.232542916C>A | CA431810846 | CHRNG | c.639C>A (p.Ala213=) c.483C>A (p.Ala161=) | |
2 | g.232542916C>G | CA431810847 | CHRNG | c.639C>G (p.Ala213=) c.483C>G (p.Ala161=) | |
2 | g.232542916C>T | CA431810848 | CHRNG | c.639C>T (p.Ala213=) c.483C>T (p.Ala161=) | gnomAD v4 |
2 | g.232542916_232542920del | CA1335317482 | CHRNG | c.639_643del (p.Lys214AlafsTer?) c.483_487del (p.Lys162AlafsTer?) | dbSNP |
2 | g.232542917A= | CA1335317483 | CHRNG | c.640A= (p.Lys214=) c.484A= (p.Lys162=) | |
2 | g.232542917A>C | CA351011565 | CHRNG | c.640A>C (p.Lys214Gln) c.484A>C (p.Lys162Gln) | gnomAD v4 |
2 | g.232542917A>G | CA351011567 | CHRNG | c.640A>G (p.Lys214Glu) c.484A>G (p.Lys162Glu) | dbSNP |
2 | g.232542917A>T | CA351011568 | CHRNG | c.640A>T (p.Lys214Ter) c.484A>T (p.Lys162Ter) | |
2 | g.232542918A>C | CA351011570 | CHRNG | c.641A>C (p.Lys214Thr) c.485A>C (p.Lys162Thr) | |
2 | g.232542918A>G | CA351011572 | CHRNG | c.641A>G (p.Lys214Arg) c.485A>G (p.Lys162Arg) | |
2 | g.232542918A>T | CA351011574 | CHRNG | c.641A>T (p.Lys214Met) c.485A>T (p.Lys162Met) | |
2 | g.232542919G>A | CA431810850 | CHRNG | c.642G>A (p.Lys214=) c.486G>A (p.Lys162=) | |
2 | g.232542919G>C | CA351011576 | CHRNG | c.642G>C (p.Lys214Asn) c.486G>C (p.Lys162Asn) | |
2 | g.232542919G>T | CA351011578 | CHRNG | c.642G>T (p.Lys214Asn) c.486G>T (p.Lys162Asn) | |
2 | g.232542920A>C | CA351011579 | CHRNG | c.643A>C (p.Met215Leu) c.487A>C (p.Met163Leu) | |
2 | g.232542920A>G | CA351011581 | CHRNG | c.643A>G (p.Met215Val) c.487A>G (p.Met163Val) | |
2 | g.232542920A>T | CA351011583 | CHRNG | c.643A>T (p.Met215Leu) c.487A>T (p.Met163Leu) | |
2 | g.232542921T>A | CA351011589 | CHRNG | c.644T>A (p.Met215Lys) c.488T>A (p.Met163Lys) | |
2 | g.232542921T>C | CA2168758 | CHRNG | c.644T>C (p.Met215Thr) c.488T>C (p.Met163Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542921T>G | CA351011587 | CHRNG | c.644T>G (p.Met215Arg) c.488T>G (p.Met163Arg) | |
2 | g.232542921T= | CA1335317484 | CHRNG | c.644T= (p.Met215=) c.488T= (p.Met163=) | |
2 | g.232542922G>A | CA351011592 | CHRNG | c.645G>A (p.Met215Ile) c.489G>A (p.Met163Ile) | |
2 | g.232542922G>C | CA351011593 | CHRNG | c.645G>C (p.Met215Ile) c.489G>C (p.Met163Ile) | dbSNP gnomAD v4 |
2 | g.232542922G= | CA1335317485 | CHRNG | c.645G= (p.Met215=) c.489G= (p.Met163=) | |
2 | g.232542922G>T | CA351011594 | CHRNG | c.645G>T (p.Met215Ile) c.489G>T (p.Met163Ile) | |
2 | g.232542923C>A | CA351011596 | CHRNG | c.646C>A (p.Leu216Ile) c.490C>A (p.Leu164Ile) | |
2 | g.232542923C>G | CA351011598 | CHRNG | c.646C>G (p.Leu216Val) c.490C>G (p.Leu164Val) | |
2 | g.232542923C>T | CA351011600 | CHRNG | c.646C>T (p.Leu216Phe) c.490C>T (p.Leu164Phe) | |
2 | g.232542924T>A | CA351011602 | CHRNG | c.647T>A (p.Leu216His) c.491T>A (p.Leu164His) | |
2 | g.232542924T>C | CA351011604 | CHRNG | c.647T>C (p.Leu216Pro) c.491T>C (p.Leu164Pro) | |
2 | g.232542924T>G | CA351011606 | CHRNG | c.647T>G (p.Leu216Arg) c.491T>G (p.Leu164Arg) | |
2 | g.232542925C>A | CA431810859 | CHRNG | c.648C>A (p.Leu216=) c.492C>A (p.Leu164=) | |
2 | g.232542925C= | CA1335317486 | CHRNG | c.648C= (p.Leu216=) c.492C= (p.Leu164=) | |
2 | g.232542925C>G | CA431810860 | CHRNG | c.648C>G (p.Leu216=) c.492C>G (p.Leu164=) | |
2 | g.232542925C>T | CA431810861 | CHRNG | c.648C>T (p.Leu216=) c.492C>T (p.Leu164=) | dbSNP |
2 | g.232542926C>A | CA351011608 | CHRNG | c.649C>A (p.Leu217Met) c.493C>A (p.Leu165Met) | |
2 | g.232542926C>G | CA351011610 | CHRNG | c.649C>G (p.Leu217Val) c.493C>G (p.Leu165Val) | gnomAD v4 |
2 | g.232542926C>T | CA431810863 | CHRNG | c.649C>T (p.Leu217=) c.493C>T (p.Leu165=) | |
2 | g.232542927T>A | CA351011614 | CHRNG | c.650T>A (p.Leu217Gln) c.494T>A (p.Leu165Gln) | |
2 | g.232542927T>C | CA2168759 | CHRNG | c.650T>C (p.Leu217Pro) c.494T>C (p.Leu165Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232542927T>G | CA351011613 | CHRNG | c.650T>G (p.Leu217Arg) c.494T>G (p.Leu165Arg) | |
2 | g.232542927T= | CA1335317487 | CHRNG | c.650T= (p.Leu217=) c.494T= (p.Leu165=) | |
2 | g.232542928G>A | CA431810864 | CHRNG | c.651G>A (p.Leu217=) c.495G>A (p.Leu165=) | gnomAD v4 |
2 | g.232542928G>C | CA431810865 | CHRNG | c.651G>C (p.Leu217=) c.495G>C (p.Leu165=) | |
2 | g.232542928G>T | CA431810866 | CHRNG | c.651G>T (p.Leu217=) c.495G>T (p.Leu165=) | |
2 | g.232542929G>A | CA351011627 | CHRNG | c.652G>A (p.Asp218Asn) c.496G>A (p.Asp166Asn) | |
2 | g.232542929G>C | CA351011631 | CHRNG | c.652G>C (p.Asp218His) c.496G>C (p.Asp166His) | |
2 | g.232542929G= | CA1335317488 | CHRNG | c.652G= (p.Asp218=) c.496G= (p.Asp166=) | |
2 | g.232542929G>T | CA351011637 | CHRNG | c.652G>T (p.Asp218Tyr) c.496G>T (p.Asp166Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542930A>C | CA351011640 | CHRNG | c.653A>C (p.Asp218Ala) c.497A>C (p.Asp166Ala) | |
2 | g.232542930A>G | CA351011642 | CHRNG | c.653A>G (p.Asp218Gly) c.497A>G (p.Asp166Gly) | |
2 | g.232542930A>T | CA351011643 | CHRNG | c.653A>T (p.Asp218Val) c.497A>T (p.Asp166Val) | |
2 | g.232542931C>A | CA351011646 | CHRNG | c.654C>A (p.Asp218Glu) c.498C>A (p.Asp166Glu) | |
2 | g.232542931C= | CA1335317489 | CHRNG | c.654C= (p.Asp218=) c.498C= (p.Asp166=) | |
2 | g.232542931C>G | CA351011648 | CHRNG | c.654C>G (p.Asp218Glu) c.498C>G (p.Asp166Glu) | |
2 | g.232542931C>T | CA431810868 | CHRNG | c.654C>T (p.Asp218=) c.498C>T (p.Asp166=) | ClinVar dbSNP |
2 | g.232542932C>A | CA351011651 | CHRNG | c.655C>A (p.Pro219Thr) c.499C>A (p.Pro167Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232542932C= | CA1335317490 | CHRNG | c.655C= (p.Pro219=) c.499C= (p.Pro167=) | |
2 | g.232542932C>G | CA2168760 | CHRNG | c.655C>G (p.Pro219Ala) c.499C>G (p.Pro167Ala) | dbSNP ExAC |
2 | g.232542932C>T | CA351011653 | CHRNG | c.655C>T (p.Pro219Ser) c.499C>T (p.Pro167Ser) | gnomAD v4 |
2 | g.232542933C>A | CA351011656 | CHRNG | c.656C>A (p.Pro219Gln) c.500C>A (p.Pro167Gln) | |
2 | g.232542933C>G | CA351011659 | CHRNG | c.656C>G (p.Pro219Arg) c.500C>G (p.Pro167Arg) | gnomAD v4 |
2 | g.232542933C>T | CA351011660 | CHRNG | c.656C>T (p.Pro219Leu) c.500C>T (p.Pro167Leu) | gnomAD v4 |
2 | g.232542934A>C | CA431810870 | CHRNG | c.657A>C (p.Pro219=) c.501A>C (p.Pro167=) | |
2 | g.232542934A>G | CA431810871 | CHRNG | c.657A>G (p.Pro219=) c.501A>G (p.Pro167=) | gnomAD v4 |
2 | g.232542934A>T | CA431810872 | CHRNG | c.657A>T (p.Pro219=) c.501A>T (p.Pro167=) | |
2 | g.232542935G>A | CA351011663 | CHRNG | c.658G>A (p.Ala220Thr) c.502G>A (p.Ala168Thr) | |
2 | g.232542935G>C | CA351011665 | CHRNG | c.658G>C (p.Ala220Pro) c.502G>C (p.Ala168Pro) | |
2 | g.232542935G>T | CA351011662 | CHRNG | c.658G>T (p.Ala220Ser) c.502G>T (p.Ala168Ser) | |
2 | g.232542936C>A | CA351011670 | CHRNG | c.659C>A (p.Ala220Glu) c.503C>A (p.Ala168Glu) | gnomAD v4 |
2 | g.232542936C= | CA1335317491 | CHRNG | c.659C= (p.Ala220=) c.503C= (p.Ala168=) | |
2 | g.232542936C>G | CA351011668 | CHRNG | c.659C>G (p.Ala220Gly) c.503C>G (p.Ala168Gly) | |
2 | g.232542936C>T | CA2168761 | CHRNG | c.659C>T (p.Ala220Val) c.503C>T (p.Ala168Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.232542937G>A | CA2168762 | CHRNG | c.660G>A (p.Ala220=) c.504G>A (p.Ala168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542937G>C | CA431810875 | CHRNG | c.660G>C (p.Ala220=) c.504G>C (p.Ala168=) | |
2 | g.232542937G= | CA1335317492 | CHRNG | c.660G= (p.Ala220=) c.504G= (p.Ala168=) | |
2 | g.232542937G>T | CA431810876 | CHRNG | c.660G>T (p.Ala220=) c.504G>T (p.Ala168=) | |
2 | g.232542938G>A | CA351011675 | CHRNG | c.661G>A (p.Ala221Thr) c.505G>A (p.Ala169Thr) | |
2 | g.232542938G>C | CA351011678 | CHRNG | c.661G>C (p.Ala221Pro) c.505G>C (p.Ala169Pro) | |
2 | g.232542938G= | CA1335317493 | CHRNG | c.661G= (p.Ala221=) c.505G= (p.Ala169=) | |
2 | g.232542938G>T | CA2168763 | CHRNG | c.661G>T (p.Ala221Ser) c.505G>T (p.Ala169Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542939C>A | CA351011679 | CHRNG | c.662C>A (p.Ala221Glu) c.506C>A (p.Ala169Glu) | gnomAD v4 |
2 | g.232542939C= | CA1335317494 | CHRNG | c.662C= (p.Ala221=) c.506C= (p.Ala169=) | |
2 | g.232542939C>G | CA351011680 | CHRNG | c.662C>G (p.Ala221Gly) c.506C>G (p.Ala169Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542939C>T | CA2168764 | CHRNG | c.662C>T (p.Ala221Val) c.506C>T (p.Ala169Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.232542940G>A | CA2168765 | CHRNG | c.663G>A (p.Ala221=) c.507G>A (p.Ala169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542940G>C | CA431810881 | CHRNG | c.663G>C (p.Ala221=) c.507G>C (p.Ala169=) | gnomAD v4 |
2 | g.232542940G= | CA1335317495 | CHRNG | c.663G= (p.Ala221=) c.507G= (p.Ala169=) | |
2 | g.232542940G>T | CA431810882 | CHRNG | c.663G>T (p.Ala221=) c.507G>T (p.Ala169=) | |
2 | g.232542941C>A | CA351011681 | CHRNG | c.664C>A (p.Pro222Thr) c.508C>A (p.Pro170Thr) | |
2 | g.232542941C>G | CA351011683 | CHRNG | c.664C>G (p.Pro222Ala) c.508C>G (p.Pro170Ala) | |
2 | g.232542941C>T | CA351011684 | CHRNG | c.664C>T (p.Pro222Ser) c.508C>T (p.Pro170Ser) | |
2 | g.232542942C>A | CA351011690 | CHRNG | c.665C>A (p.Pro222Gln) c.509C>A (p.Pro170Gln) | |
2 | g.232542942C= | CA1335317496 | CHRNG | c.665C= (p.Pro222=) c.509C= (p.Pro170=) | |
2 | g.232542942C>G | CA351011687 | CHRNG | c.665C>G (p.Pro222Arg) c.509C>G (p.Pro170Arg) | |
2 | g.232542942C>T | CA2168766 | CHRNG | c.665C>T (p.Pro222Leu) c.509C>T (p.Pro170Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542943A>C | CA431810887 | CHRNG | c.666A>C (p.Pro222=) c.510A>C (p.Pro170=) | |
2 | g.232542943A>G | CA431810889 | CHRNG | c.666A>G (p.Pro222=) c.510A>G (p.Pro170=) | |
2 | g.232542943A>T | CA431810891 | CHRNG | c.666A>T (p.Pro222=) c.510A>T (p.Pro170=) | |
2 | g.232542944G>A | CA2168767 | CHRNG | c.667G>A (p.Ala223Thr) c.511G>A (p.Ala171Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232542944G>C | CA351011695 | CHRNG | c.667G>C (p.Ala223Pro) c.511G>C (p.Ala171Pro) | |
2 | g.232542944G= | CA1335317497 | CHRNG | c.667G= (p.Ala223=) c.511G= (p.Ala171=) | |
2 | g.232542944G>T | CA351011697 | CHRNG | c.667G>T (p.Ala223Ser) c.511G>T (p.Ala171Ser) | |
2 | g.232542945C>A | CA351011700 | CHRNG | c.668C>A (p.Ala223Asp) c.512C>A (p.Ala171Asp) | |
2 | g.232542945C>G | CA351011703 | CHRNG | c.668C>G (p.Ala223Gly) c.512C>G (p.Ala171Gly) | |
2 | g.232542945C>T | CA351011706 | CHRNG | c.668C>T (p.Ala223Val) c.512C>T (p.Ala171Val) | |
2 | g.232542946C>A | CA431810893 | CHRNG | c.669C>A (p.Ala223=) c.513C>A (p.Ala171=) | |
2 | g.232542946C= | CA1335317498 | CHRNG | c.669C= (p.Ala223=) c.513C= (p.Ala171=) | |
2 | g.232542946C>G | CA431810894 | CHRNG | c.669C>G (p.Ala223=) c.513C>G (p.Ala171=) | |
2 | g.232542946C>T | CA431810895 | CHRNG | c.669C>T (p.Ala223=) c.513C>T (p.Ala171=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542947C>A | CA351011709 | CHRNG | c.670C>A (p.Gln224Lys) c.514C>A (p.Gln172Lys) | |
2 | g.232542947C>G | CA351011711 | CHRNG | c.670C>G (p.Gln224Glu) c.514C>G (p.Gln172Glu) | |
2 | g.232542947C>T | CA351011712 | CHRNG | c.670C>T (p.Gln224Ter) c.514C>T (p.Gln172Ter) | ClinVar |
2 | g.232542948A= | CA1335317499 | CHRNG | c.671A= (p.Gln224=) c.515A= (p.Gln172=) | |
2 | g.232542948A>C | CA351011715 | CHRNG | c.671A>C (p.Gln224Pro) c.515A>C (p.Gln172Pro) | |
2 | g.232542948A>G | CA2168768 | CHRNG | c.671A>G (p.Gln224Arg) c.515A>G (p.Gln172Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542948A>T | CA351011721 | CHRNG | c.671A>T (p.Gln224Leu) c.515A>T (p.Gln172Leu) | |
2 | g.232542949G>A | CA431810897 | CHRNG | c.672G>A (p.Gln224=) c.516G>A (p.Gln172=) | ClinVar dbSNP gnomAD v4 |
2 | g.232542949G>C | CA351011724 | CHRNG | c.672G>C (p.Gln224His) c.516G>C (p.Gln172His) | |
2 | g.232542949G= | CA1335317500 | CHRNG | c.672G= (p.Gln224=) c.516G= (p.Gln172=) | |
2 | g.232542949G>T | CA351011726 | CHRNG | c.672G>T (p.Gln224His) c.516G>T (p.Gln172His) | |
2 | g.232542950G>A | CA351011729 | CHRNG | c.673G>A (p.Glu225Lys) c.517G>A (p.Glu173Lys) | |
2 | g.232542950G>C | CA351011731 | CHRNG | c.673G>C (p.Glu225Gln) c.517G>C (p.Glu173Gln) | |
2 | g.232542950G>T | CA351011734 | CHRNG | c.673G>T (p.Glu225Ter) c.517G>T (p.Glu173Ter) | |
2 | g.232542951A>C | CA351011736 | CHRNG | c.674A>C (p.Glu225Ala) c.518A>C (p.Glu173Ala) | |
2 | g.232542951A>G | CA351011737 | CHRNG | c.674A>G (p.Glu225Gly) c.518A>G (p.Glu173Gly) | |
2 | g.232542951A>T | CA351011739 | CHRNG | c.674A>T (p.Glu225Val) c.518A>T (p.Glu173Val) | |
2 | g.232542952A>C | CA351011743 | CHRNG | c.675A>C (p.Glu225Asp) c.519A>C (p.Glu173Asp) | |
2 | g.232542952A>G | CA431810900 | CHRNG | c.675A>G (p.Glu225=) c.519A>G (p.Glu173=) | |
2 | g.232542952A>T | CA351011741 | CHRNG | c.675A>T (p.Glu225Asp) c.519A>T (p.Glu173Asp) | |
2 | g.232542953G>A | CA351011747 | CHRNG | c.676G>A (p.Ala226Thr) c.520G>A (p.Ala174Thr) | gnomAD v4 |
2 | g.232542953G>C | CA351011750 | CHRNG | c.676G>C (p.Ala226Pro) c.520G>C (p.Ala174Pro) | |
2 | g.232542953G>T | CA351011752 | CHRNG | c.676G>T (p.Ala226Ser) c.520G>T (p.Ala174Ser) | |
2 | g.232542954C>A | CA351011755 | CHRNG | c.677C>A (p.Ala226Glu) c.521C>A (p.Ala174Glu) | |
2 | g.232542954C>G | CA351011756 | CHRNG | c.677C>G (p.Ala226Gly) c.521C>G (p.Ala174Gly) | |
2 | g.232542954C>T | CA351011757 | CHRNG | c.677C>T (p.Ala226Val) c.521C>T (p.Ala174Val) | |
2 | g.232542955A>C | CA431810903 | CHRNG | c.678A>C (p.Ala226=) c.522A>C (p.Ala174=) | |
2 | g.232542955A>G | CA431810905 | CHRNG | c.678A>G (p.Ala226=) c.522A>G (p.Ala174=) | |
2 | g.232542955A>T | CA431810904 | CHRNG | c.678A>T (p.Ala226=) c.522A>T (p.Ala174=) | |
2 | g.232542956G>A | CA351011758 | CHRNG | c.679G>A (p.Gly227Ser) c.523G>A (p.Gly175Ser) | |
2 | g.232542956G>C | CA351011760 | CHRNG | c.679G>C (p.Gly227Arg) c.523G>C (p.Gly175Arg) | |
2 | g.232542956G>T | CA351011759 | CHRNG | c.679G>T (p.Gly227Cys) c.523G>T (p.Gly175Cys) | |
2 | g.232542957G>A | CA351011761 | CHRNG | c.680G>A (p.Gly227Asp) c.524G>A (p.Gly175Asp) | |
2 | g.232542957G>C | CA351011762 | CHRNG | c.680G>C (p.Gly227Ala) c.524G>C (p.Gly175Ala) | |
2 | g.232542957G>T | CA351011763 | CHRNG | c.680G>T (p.Gly227Val) c.524G>T (p.Gly175Val) | |
2 | g.232542958C>A | CA431810907 | CHRNG | c.681C>A (p.Gly227=) c.525C>A (p.Gly175=) | gnomAD v4 |
2 | g.232542958C>G | CA431810908 | CHRNG | c.681C>G (p.Gly227=) c.525C>G (p.Gly175=) | gnomAD v4 |
2 | g.232542958C>T | CA431810909 | CHRNG | c.681C>T (p.Gly227=) c.525C>T (p.Gly175=) | |
2 | g.232542959C>A | CA351011764 | CHRNG | c.682C>A (p.His228Asn) c.526C>A (p.His176Asn) | |
2 | g.232542959C>G | CA351011765 | CHRNG | c.682C>G (p.His228Asp) c.526C>G (p.His176Asp) | |
2 | g.232542959C>T | CA351011767 | CHRNG | c.682C>T (p.His228Tyr) c.526C>T (p.His176Tyr) | gnomAD v4 |
2 | g.232542960A>C | CA351011768 | CHRNG | c.683A>C (p.His228Pro) c.527A>C (p.His176Pro) | |
2 | g.232542960A>G | CA351011770 | CHRNG | c.683A>G (p.His228Arg) c.527A>G (p.His176Arg) | |
2 | g.232542960A>T | CA351011775 | CHRNG | c.683A>T (p.His228Leu) c.527A>T (p.His176Leu) | |
2 | g.232542961C>A | CA351011777 | CHRNG | c.684C>A (p.His228Gln) c.528C>A (p.His176Gln) | dbSNP |
2 | g.232542961C= | CA1335317501 | CHRNG | c.684C= (p.His228=) c.528C= (p.His176=) | |
2 | g.232542961C>G | CA351011778 | CHRNG | c.684C>G (p.His228Gln) c.528C>G (p.His176Gln) | |
2 | g.232542961C>T | CA431810913 | CHRNG | c.684C>T (p.His228=) c.528C>T (p.His176=) | |
2 | g.232542962C>A | CA351011787 | CHRNG | c.685C>A (p.Gln229Lys) c.529C>A (p.Gln177Lys) | |
2 | g.232542962C= | CA1335317502 | CHRNG | c.685C= (p.Gln229=) c.529C= (p.Gln177=) | |
2 | g.232542962C>G | CA351011785 | CHRNG | c.685C>G (p.Gln229Glu) c.529C>G (p.Gln177Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542962C>T | CA351011782 | CHRNG | c.685C>T (p.Gln229Ter) c.529C>T (p.Gln177Ter) | |
2 | g.232542962_232542965delinsCAGA | CA1335317503 | CHRNG | c.685_688delinsCAGA (p.Gln229=) c.529_532delinsCAGA (p.Gln177=) | |
2 | g.232542963A= | CA1335317504 | CHRNG | c.686A= (p.Gln229=) c.530A= (p.Gln177=) | |
2 | g.232542963A>C | CA351011791 | CHRNG | c.686A>C (p.Gln229Pro) c.530A>C (p.Gln177Pro) | |
2 | g.232542963A>G | CA351011794 | CHRNG | c.686A>G (p.Gln229Arg) c.530A>G (p.Gln177Arg) | dbSNP gnomAD v4 |
2 | g.232542963A>T | CA351011793 | CHRNG | c.686A>T (p.Gln229Leu) c.530A>T (p.Gln177Leu) | |
2 | g.232542964_232542965del | CA2586971552 | CHRNG | c.687_688del (p.Lys230GlyfsTer?) c.531_532del (p.Lys178GlyfsTer?) | |
2 | g.232542965_232542967del | CA1043460778 | CHRNG | c.688_690del (p.Lys230del) c.532_534del (p.Lys178del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542964G>A | CA431810918 | CHRNG | c.687G>A (p.Gln229=) c.531G>A (p.Gln177=) | gnomAD v4 |
2 | g.232542964G>C | CA351011797 | CHRNG | c.687G>C (p.Gln229His) c.531G>C (p.Gln177His) | |
2 | g.232542964G= | CA1335317505 | CHRNG | c.687G= (p.Gln229=) c.531G= (p.Gln177=) | |
2 | g.232542964G>T | CA351011800 | CHRNG | c.687G>T (p.Gln229His) c.531G>T (p.Gln177His) | dbSNP |
2 | g.232542965A= | CA1335317506 | CHRNG | c.688A= (p.Lys230=) c.532A= (p.Lys178=) | |
2 | g.232542965A>C | CA351011803 | CHRNG | c.688A>C (p.Lys230Gln) c.532A>C (p.Lys178Gln) | |
2 | g.232542965A>G | CA351011805 | CHRNG | c.688A>G (p.Lys230Glu) c.532A>G (p.Lys178Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232542965A>T | CA351011808 | CHRNG | c.688A>T (p.Lys230Ter) c.532A>T (p.Lys178Ter) | |
2 | g.232542966A= | CA1335317507 | CHRNG | c.689A= (p.Lys230=) c.533A= (p.Lys178=) | |
2 | g.232542966A>C | CA351011809 | CHRNG | c.689A>C (p.Lys230Thr) c.533A>C (p.Lys178Thr) | |
2 | g.232542966A>G | CA351011811 | CHRNG | c.689A>G (p.Lys230Arg) c.533A>G (p.Lys178Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542966A>T | CA351011813 | CHRNG | c.689A>T (p.Lys230Met) c.533A>T (p.Lys178Met) | |
2 | g.232542967G>A | CA431810920 | CHRNG | c.690G>A (p.Lys230=) c.534G>A (p.Lys178=) | |
2 | g.232542967G>C | CA351011816 | CHRNG | c.690G>C (p.Lys230Asn) c.534G>C (p.Lys178Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232542967G= | CA1335317508 | CHRNG | c.690G= (p.Lys230=) c.534G= (p.Lys178=) | |
2 | g.232542967G>T | CA351011817 | CHRNG | c.690G>T (p.Lys230Asn) c.534G>T (p.Lys178Asn) | |
2 | g.232542971_232542973del | CA2577278446 | CHRNG | c.694_696del (p.Val232del) c.538_540del (p.Val180del) | gnomAD v4 |
2 | g.232542968G>A | CA351011819 | CHRNG | c.691G>A (p.Val231Met) c.535G>A (p.Val179Met) | |
2 | g.232542968G>C | CA351011821 | CHRNG | c.691G>C (p.Val231Leu) c.535G>C (p.Val179Leu) | |
2 | g.232542968G>T | CA351011823 | CHRNG | c.691G>T (p.Val231Leu) c.535G>T (p.Val179Leu) | |
2 | g.232542969T>A | CA351011831 | CHRNG | c.692T>A (p.Val231Glu) c.536T>A (p.Val179Glu) | |
2 | g.232542969T>C | CA351011826 | CHRNG | c.692T>C (p.Val231Ala) c.536T>C (p.Val179Ala) | |
2 | g.232542969T>G | CA351011828 | CHRNG | c.692T>G (p.Val231Gly) c.536T>G (p.Val179Gly) | |
2 | g.232542970G>A | CA431810922 | CHRNG | c.693G>A (p.Val231=) c.537G>A (p.Val179=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542970G>C | CA431810923 | CHRNG | c.693G>C (p.Val231=) c.537G>C (p.Val179=) | |
2 | g.232542970G= | CA1335317509 | CHRNG | c.693G= (p.Val231=) c.537G= (p.Val179=) | |
2 | g.232542970G>T | CA431810924 | CHRNG | c.693G>T (p.Val231=) c.537G>T (p.Val179=) | |
2 | g.232542971G>A | CA351011834 | CHRNG | c.694G>A (p.Val232Met) c.538G>A (p.Val180Met) | gnomAD v4 |
2 | g.232542971G>C | CA351011837 | CHRNG | c.694G>C (p.Val232Leu) c.538G>C (p.Val180Leu) | |
2 | g.232542971G>T | CA351011839 | CHRNG | c.694G>T (p.Val232Leu) c.538G>T (p.Val180Leu) | gnomAD v4 |
2 | g.232542972T>A | CA351011842 | CHRNG | c.695T>A (p.Val232Glu) c.539T>A (p.Val180Glu) | |
2 | g.232542972T>C | CA351011845 | CHRNG | c.695T>C (p.Val232Ala) c.539T>C (p.Val180Ala) | |
2 | g.232542972T>G | CA351011850 | CHRNG | c.695T>G (p.Val232Gly) c.539T>G (p.Val180Gly) | |
2 | g.232542973G>A | CA2168769 | CHRNG | c.696G>A (p.Val232=) c.540G>A (p.Val180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232542973G>C | CA431810926 | CHRNG | c.696G>C (p.Val232=) c.540G>C (p.Val180=) | |
2 | g.232542973G= | CA1335317510 | CHRNG | c.696G= (p.Val232=) c.540G= (p.Val180=) | |
2 | g.232542973G>T | CA431810927 | CHRNG | c.696G>T (p.Val232=) c.540G>T (p.Val180=) | |
2 | g.232542974T>A | CA351011853 | CHRNG | c.697T>A (p.Phe233Ile) c.541T>A (p.Phe181Ile) | |
2 | g.232542974T>C | CA351011856 | CHRNG | c.697T>C (p.Phe233Leu) c.541T>C (p.Phe181Leu) | |
2 | g.232542974T>G | CA351011857 | CHRNG | c.697T>G (p.Phe233Val) c.541T>G (p.Phe181Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542974T= | CA1335317511 | CHRNG | c.697T= (p.Phe233=) c.541T= (p.Phe181=) | |
2 | g.232542975T>A | CA351011863 | CHRNG | c.698T>A (p.Phe233Tyr) c.542T>A (p.Phe181Tyr) | |
2 | g.232542975T>C | CA351011864 | CHRNG | c.698T>C (p.Phe233Ser) c.542T>C (p.Phe181Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542975T>G | CA351011860 | CHRNG | c.698T>G (p.Phe233Cys) c.542T>G (p.Phe181Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232542975T= | CA1335317512 | CHRNG | c.698T= (p.Phe233=) c.542T= (p.Phe181=) | |
2 | g.232542976C>A | CA351011866 | CHRNG | c.699C>A (p.Phe233Leu) c.543C>A (p.Phe181Leu) | |
2 | g.232542976C>G | CA351011868 | CHRNG | c.699C>G (p.Phe233Leu) c.543C>G (p.Phe181Leu) | |
2 | g.232542976C>T | CA431810929 | CHRNG | c.699C>T (p.Phe233=) c.543C>T (p.Phe181=) | |
2 | g.232542977T>A | CA351011870 | CHRNG | c.700T>A (p.Tyr234Asn) c.544T>A (p.Tyr182Asn) | |
2 | g.232542977T>C | CA351011873 | CHRNG | c.700T>C (p.Tyr234His) c.544T>C (p.Tyr182His) | |
2 | g.232542977T>G | CA351011875 | CHRNG | c.700T>G (p.Tyr234Asp) c.544T>G (p.Tyr182Asp) | |
2 | g.232542978A= | CA1335317513 | CHRNG | c.701A= (p.Tyr234=) c.545A= (p.Tyr182=) | |
2 | g.232542978A>C | CA351011877 | CHRNG | c.701A>C (p.Tyr234Ser) c.545A>C (p.Tyr182Ser) | dbSNP |
2 | g.232542978A>G | CA351011878 | CHRNG | c.701A>G (p.Tyr234Cys) c.545A>G (p.Tyr182Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232542978A>T | CA351011880 | CHRNG | c.701A>T (p.Tyr234Phe) c.545A>T (p.Tyr182Phe) | |
2 | g.232542979C>A | CA351011883 | CHRNG | c.702C>A (p.Tyr234Ter) c.546C>A (p.Tyr182Ter) | |
2 | g.232542979C>G | CA351011884 | CHRNG | c.702C>G (p.Tyr234Ter) c.546C>G (p.Tyr182Ter) | |
2 | g.232542979C>T | CA431810936 | CHRNG | c.702C>T (p.Tyr234=) c.546C>T (p.Tyr182=) | gnomAD v4 |
2 | g.232542980C>A | CA351011885 | CHRNG | c.703C>A (p.Leu235Met) c.547C>A (p.Leu183Met) | |
2 | g.232542980C= | CA1335317514 | CHRNG | c.703C= (p.Leu235=) c.547C= (p.Leu183=) | |
2 | g.232542980C>G | CA2168770 | CHRNG | c.703C>G (p.Leu235Val) c.547C>G (p.Leu183Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232542980C>T | CA431810938 | CHRNG | c.703C>T (p.Leu235=) c.547C>T (p.Leu183=) | |
2 | g.232542981T>A | CA351011890 | CHRNG | c.704T>A (p.Leu235Gln) c.548T>A (p.Leu183Gln) | |
2 | g.232542981T>C | CA351011888 | CHRNG | c.704T>C (p.Leu235Pro) c.548T>C (p.Leu183Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232542981T>G | CA351011889 | CHRNG | c.704T>G (p.Leu235Arg) c.548T>G (p.Leu183Arg) | |
2 | g.232542981T= | CA1335317515 | CHRNG | c.704T= (p.Leu235=) c.548T= (p.Leu183=) | |
2 | g.232542982G>A | CA431810943 | CHRNG | c.705G>A (p.Leu235=) c.549G>A (p.Leu183=) | |
2 | g.232542982G>C | CA431810944 | CHRNG | c.705G>C (p.Leu235=) c.549G>C (p.Leu183=) | |
2 | g.232542982G>T | CA431810945 | CHRNG | c.705G>T (p.Leu235=) c.549G>T (p.Leu183=) | |
2 | g.232542983C>A | CA351011892 | CHRNG | c.706C>A (p.Leu236Ile) c.550C>A (p.Leu184Ile) | |
2 | g.232542983C= | CA1335317516 | CHRNG | c.706C= (p.Leu236=) c.550C= (p.Leu184=) | |
2 | g.232542983C>G | CA351011894 | CHRNG | c.706C>G (p.Leu236Val) c.550C>G (p.Leu184Val) | |
2 | g.232542983C>T | CA351011897 | CHRNG | c.706C>T (p.Leu236Phe) c.550C>T (p.Leu184Phe) | dbSNP COSMIC |
2 | g.232542984T>A | CA351011899 | CHRNG | c.707T>A (p.Leu236His) c.551T>A (p.Leu184His) | |
2 | g.232542984T>C | CA351011913 | CHRNG | c.707T>C (p.Leu236Pro) c.551T>C (p.Leu184Pro) | dbSNP |
2 | g.232542984T>G | CA351011915 | CHRNG | c.707T>G (p.Leu236Arg) c.551T>G (p.Leu184Arg) | |
2 | g.232542984T= | CA1335317517 | CHRNG | c.707T= (p.Leu236=) c.551T= (p.Leu184=) | |
2 | g.232542985C>A | CA431810947 | CHRNG | c.708C>A (p.Leu236=) c.552C>A (p.Leu184=) | |
2 | g.232542985C= | CA1335317518 | CHRNG | c.708C= (p.Leu236=) c.552C= (p.Leu184=) | |
2 | g.232542985C>G | CA431810950 | CHRNG | c.708C>G (p.Leu236=) c.552C>G (p.Leu184=) | |
2 | g.232542985C>T | CA431810948 | CHRNG | c.708C>T (p.Leu236=) c.552C>T (p.Leu184=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.232542986A>C | CA351011918 | CHRNG | c.709A>C (p.Ile237Leu) c.553A>C (p.Ile185Leu) | |
2 | g.232542986A>G | CA351011920 | CHRNG | c.709A>G (p.Ile237Val) c.553A>G (p.Ile185Val) | |
2 | g.232542986A>T | CA351011923 | CHRNG | c.709A>T (p.Ile237Phe) c.553A>T (p.Ile185Phe) | |
2 | g.232542987T>A | CA2168771 | CHRNG | c.710T>A (p.Ile237Asn) c.554T>A (p.Ile185Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232542987T>C | CA351011940 | CHRNG | c.710T>C (p.Ile237Thr) c.554T>C (p.Ile185Thr) | |
2 | g.232542987T>G | CA351011943 | CHRNG | c.710T>G (p.Ile237Ser) c.554T>G (p.Ile185Ser) | |
2 | g.232542987T= | CA1335317519 | CHRNG | c.710T= (p.Ile237=) c.554T= (p.Ile185=) | |
2 | g.232542987_232542988delinsAA | CA915941787 | CHRNG | c.710_711delinsAA (p.Ile237Lys) c.554_555delinsAA (p.Ile185Lys) | ClinVar dbSNP |
2 | g.232542987_232542988delinsTC | CA1335317520 | CHRNG | c.710_711delinsTC (p.Ile237=) c.554_555delinsTC (p.Ile185=) | |
2 | g.232542988C>A | CA2168772 | CHRNG | c.711C>A (p.Ile237=) c.555C>A (p.Ile185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232542988C= | CA1335317521 | CHRNG | c.711C= (p.Ile237=) c.555C= (p.Ile185=) | |
2 | g.232542988C>G | CA351011952 | CHRNG | c.711C>G (p.Ile237Met) c.555C>G (p.Ile185Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.232542988C>T | CA2168773 | CHRNG | c.711C>T (p.Ile237=) c.555C>T (p.Ile185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542989C>A | CA351011963 | CHRNG | c.712C>A (p.Gln238Lys) c.556C>A (p.Gln186Lys) | |
2 | g.232542989C>G | CA351011956 | CHRNG | c.712C>G (p.Gln238Glu) c.556C>G (p.Gln186Glu) | |
2 | g.232542989C>T | CA351011959 | CHRNG | c.712C>T (p.Gln238Ter) c.556C>T (p.Gln186Ter) | |
2 | g.232542990A>C | CA351011967 | CHRNG | c.713A>C (p.Gln238Pro) c.557A>C (p.Gln186Pro) | |
2 | g.232542990A>G | CA351011969 | CHRNG | c.713A>G (p.Gln238Arg) c.557A>G (p.Gln186Arg) | |
2 | g.232542990A>T | CA351011971 | CHRNG | c.713A>T (p.Gln238Leu) c.557A>T (p.Gln186Leu) | |
2 | g.232542991G>A | CA431810953 | CHRNG | c.714G>A (p.Gln238=) c.558G>A (p.Gln186=) | |
2 | g.232542991G>C | CA351011974 | CHRNG | c.714G>C (p.Gln238His) c.558G>C (p.Gln186His) | |
2 | g.232542991G= | CA1335317522 | CHRNG | c.714G= (p.Gln238=) c.558G= (p.Gln186=) | |
2 | g.232542991G>T | CA2168774 | CHRNG | c.714G>T (p.Gln238His) c.558G>T (p.Gln186His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542992C>A | CA351011980 | CHRNG | c.715C>A (p.Arg239Ser) c.559C>A (p.Arg187Ser) | |
2 | g.232542992C= | CA1335317523 | CHRNG | c.715C= (p.Arg239=) c.559C= (p.Arg187=) | |
2 | g.232542992C>G | CA351011987 | CHRNG | c.715C>G (p.Arg239Gly) c.559C>G (p.Arg187Gly) | |
2 | g.232542992C>T | CA128049 | CHRNG | c.715C>T (p.Arg239Cys) c.559C>T (p.Arg187Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542993G>A | CA2168775 | CHRNG | c.716G>A (p.Arg239His) c.560G>A (p.Arg187His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542993G>C | CA351011989 | CHRNG | c.716G>C (p.Arg239Pro) c.560G>C (p.Arg187Pro) | |
2 | g.232542993G= | CA1335317524 | CHRNG | c.716G= (p.Arg239=) c.560G= (p.Arg187=) | |
2 | g.232542993G>T | CA351011993 | CHRNG | c.716G>T (p.Arg239Leu) c.560G>T (p.Arg187Leu) | |
2 | g.232542994C>A | CA431810957 | CHRNG | c.717C>A (p.Arg239=) c.561C>A (p.Arg187=) | |
2 | g.232542994C= | CA1335317525 | CHRNG | c.717C= (p.Arg239=) c.561C= (p.Arg187=) | |
2 | g.232542994C>G | CA2168776 | CHRNG | c.717C>G (p.Arg239=) c.561C>G (p.Arg187=) | dbSNP ExAC gnomAD v2 |
2 | g.232542994C>T | CA431810958 | CHRNG | c.717C>T (p.Arg239=) c.561C>T (p.Arg187=) | gnomAD v4 |
2 | g.232542995A>C | CA351012003 | CHRNG | c.718A>C (p.Lys240Gln) c.562A>C (p.Lys188Gln) | |
2 | g.232542995A>G | CA351012014 | CHRNG | c.718A>G (p.Lys240Glu) c.562A>G (p.Lys188Glu) | |
2 | g.232542995A>T | CA351012005 | CHRNG | c.718A>T (p.Lys240Ter) c.562A>T (p.Lys188Ter) | |
2 | g.232542996A>C | CA351012019 | CHRNG | c.719A>C (p.Lys240Thr) c.563A>C (p.Lys188Thr) | |
2 | g.232542996A>G | CA351012021 | CHRNG | c.719A>G (p.Lys240Arg) c.563A>G (p.Lys188Arg) | |
2 | g.232542996A>T | CA351012023 | CHRNG | c.719A>T (p.Lys240Met) c.563A>T (p.Lys188Met) | |
2 | g.232542997G>A | CA431810960 | CHRNG | c.720G>A (p.Lys240=) c.564G>A (p.Lys188=) | gnomAD v4 |
2 | g.232542997G>C | CA351012026 | CHRNG | c.720G>C (p.Lys240Asn) c.564G>C (p.Lys188Asn) | |
2 | g.232542997G= | CA1335317526 | CHRNG | c.720G= (p.Lys240=) c.564G= (p.Lys188=) | |
2 | g.232542997G>T | CA66968560 | CHRNG | c.720G>T (p.Lys240Asn) c.564G>T (p.Lys188Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232542998C>A | CA351012037 | CHRNG | c.721C>A (p.Pro241Thr) c.565C>A (p.Pro189Thr) | |
2 | g.232542998C>G | CA351012040 | CHRNG | c.721C>G (p.Pro241Ala) c.565C>G (p.Pro189Ala) | |
2 | g.232542998C>T | CA351012042 | CHRNG | c.721C>T (p.Pro241Ser) c.565C>T (p.Pro189Ser) | |
2 | g.232542999C>A | CA2168777 | CHRNG | c.722C>A (p.Pro241His) c.566C>A (p.Pro189His) | dbSNP ExAC gnomAD v2 |
2 | g.232542999C= | CA1335317527 | CHRNG | c.722C= (p.Pro241=) c.566C= (p.Pro189=) | |
2 | g.232542999C>G | CA351012046 | CHRNG | c.722C>G (p.Pro241Arg) c.566C>G (p.Pro189Arg) | |
2 | g.232542999C>T | CA351012047 | CHRNG | c.722C>T (p.Pro241Leu) c.566C>T (p.Pro189Leu) | |
2 | g.232543000C>A | CA431810961 | CHRNG | c.723C>A (p.Pro241=) c.567C>A (p.Pro189=) | |
2 | g.232543000C>G | CA431810962 | CHRNG | c.723C>G (p.Pro241=) c.567C>G (p.Pro189=) | |
2 | g.232543000C>T | CA431810963 | CHRNG | c.723C>T (p.Pro241=) c.567C>T (p.Pro189=) | |
2 | g.232543001_232543003del | CA2663625800 | CHRNG | c.724_726del (p.Leu242del) c.568_570del (p.Leu190del) | gnomAD v4 |
2 | g.232543001C>A | CA351012054 | CHRNG | c.724C>A (p.Leu242Ile) c.568C>A (p.Leu190Ile) | |
2 | g.232543001C>G | CA351012053 | CHRNG | c.724C>G (p.Leu242Val) c.568C>G (p.Leu190Val) | |
2 | g.232543001C>T | CA351012050 | CHRNG | c.724C>T (p.Leu242Phe) c.568C>T (p.Leu190Phe) |