| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.36879373T>A | CA387852566 | SMAD9 | c.317A>T (p.Glu106Val) | |
| 13 | g.36879373T>C | CA387852567 | SMAD9 | c.317A>G (p.Glu106Gly) | |
| 13 | g.36879373T>G | CA387852568 | SMAD9 | c.317A>C (p.Glu106Ala) | |
| 13 | g.36879374del | CA2622694081 | SMAD9 | c.316del (p.Glu106SerfsTer2) | gnomAD v4 |
| 13 | g.36879374C>A | CA387852569 | SMAD9 | c.316G>T (p.Glu106Ter) | |
| 13 | g.36879374C= | CA2084883568 | SMAD9 | c.316G= (p.Glu106=) | |
| 13 | g.36879374C>G | CA387852570 | SMAD9 | c.316G>C (p.Glu106Gln) | |
| 13 | g.36879374C>T | CA387852571 | SMAD9 | c.316G>A (p.Glu106Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879375G>A | CA6950597 | SMAD9 | c.315C>T (p.His105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879375G>C | CA387852573 | SMAD9 | c.315C>G (p.His105Gln) | dbSNP |
| 13 | g.36879375G= | CA2084883575 | SMAD9 | c.315C= (p.His105=) | |
| 13 | g.36879375G>T | CA387852572 | SMAD9 | c.315C>A (p.His105Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879376T>A | CA387852574 | SMAD9 | c.314A>T (p.His105Leu) | |
| 13 | g.36879376T>C | CA387852575 | SMAD9 | c.314A>G (p.His105Arg) | gnomAD v4 |
| 13 | g.36879376T>G | CA387852576 | SMAD9 | c.314A>C (p.His105Pro) | gnomAD v4 |
| 13 | g.36879377G>A | CA387852577 | SMAD9 | c.313C>T (p.His105Tyr) | |
| 13 | g.36879377G>C | CA6950598 | SMAD9 | c.313C>G (p.His105Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.36879377G= | CA2084883582 | SMAD9 | c.313C= (p.His105=) | |
| 13 | g.36879377G>T | CA387852578 | SMAD9 | c.313C>A (p.His105Asn) | |
| 13 | g.36879378G>A | CA483190580 | SMAD9 | c.312C>T (p.His104=) | dbSNP |
| 13 | g.36879378G>C | CA387852579 | SMAD9 | c.312C>G (p.His104Gln) | |
| 13 | g.36879378G= | CA2084883584 | SMAD9 | c.312C= (p.His104=) | |
| 13 | g.36879378G>T | CA387852580 | SMAD9 | c.312C>A (p.His104Gln) | |
| 13 | g.36879379T>A | CA387852581 | SMAD9 | c.311A>T (p.His104Leu) | gnomAD v4 |
| 13 | g.36879379T>C | CA387852582 | SMAD9 | c.311A>G (p.His104Arg) | |
| 13 | g.36879379T>G | CA387852583 | SMAD9 | c.311A>C (p.His104Pro) | dbSNP |
| 13 | g.36879379T= | CA2084883586 | SMAD9 | c.311A= (p.His104=) | |
| 13 | g.36879380G>A | CA387852584 | SMAD9 | c.310C>T (p.His104Tyr) | gnomAD v4 |
| 13 | g.36879380G>C | CA387852585 | SMAD9 | c.310C>G (p.His104Asp) | |
| 13 | g.36879380G>T | CA387852586 | SMAD9 | c.310C>A (p.His104Asn) | |
| 13 | g.36879381G>A | CA6950599 | SMAD9 | c.309C>T (p.Ser103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.36879381G>C | CA483190581 | SMAD9 | c.309C>G (p.Ser103=) | |
| 13 | g.36879381G= | CA2084883588 | SMAD9 | c.309C= (p.Ser103=) | |
| 13 | g.36879381G>T | CA483190582 | SMAD9 | c.309C>A (p.Ser103=) | gnomAD v4 |
| 13 | g.36879382G>A | CA387852587 | SMAD9 | c.308C>T (p.Ser103Phe) | |
| 13 | g.36879382G>C | CA387852588 | SMAD9 | c.308C>G (p.Ser103Cys) | |
| 13 | g.36879382G>T | CA387852589 | SMAD9 | c.308C>A (p.Ser103Tyr) | |
| 13 | g.36879383A= | CA2084883591 | SMAD9 | c.307T= (p.Ser103=) | |
| 13 | g.36879383A>C | CA387852590 | SMAD9 | c.307T>G (p.Ser103Ala) | |
| 13 | g.36879383A>G | CA387852591 | SMAD9 | c.307T>C (p.Ser103Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879383A>T | CA387852592 | SMAD9 | c.307T>A (p.Ser103Thr) | |
| 13 | g.36879384C>A | CA387852593 | SMAD9 | c.306G>T (p.Gln102His) | |
| 13 | g.36879384C>G | CA387852594 | SMAD9 | c.306G>C (p.Gln102His) | |
| 13 | g.36879384C>T | CA483190583 | SMAD9 | c.306G>A (p.Gln102=) | |
| 13 | g.36879385T>A | CA387852595 | SMAD9 | c.305A>T (p.Gln102Leu) | |
| 13 | g.36879385T>C | CA387852596 | SMAD9 | c.305A>G (p.Gln102Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879385T>G | CA387852597 | SMAD9 | c.305A>C (p.Gln102Pro) | |
| 13 | g.36879385T= | CA2084883595 | SMAD9 | c.305A= (p.Gln102=) | |
| 13 | g.36879386G>A | CA387852598 | SMAD9 | c.304C>T (p.Gln102Ter) | gnomAD v4 |
| 13 | g.36879386G>C | CA387852599 | SMAD9 | c.304C>G (p.Gln102Glu) | |
| 13 | g.36879386G>T | CA387852600 | SMAD9 | c.304C>A (p.Gln102Lys) | |
| 13 | g.36879387C>A | CA483190584 | SMAD9 | c.303G>T (p.Leu101=) | |
| 13 | g.36879387C= | CA2084883597 | SMAD9 | c.303G= (p.Leu101=) | |
| 13 | g.36879387C>G | CA483190585 | SMAD9 | c.303G>C (p.Leu101=) | |
| 13 | g.36879387C>T | CA248181238 | SMAD9 | c.303G>A (p.Leu101=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879388A>C | CA387852601 | SMAD9 | c.302T>G (p.Leu101Arg) | |
| 13 | g.36879388A>G | CA387852603 | SMAD9 | c.302T>C (p.Leu101Pro) | |
| 13 | g.36879388A>T | CA387852602 | SMAD9 | c.302T>A (p.Leu101Gln) | |
| 13 | g.36879389G>A | CA6950600 | SMAD9 | c.301C>T (p.Leu101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879389G>C | CA387852604 | SMAD9 | c.301C>G (p.Leu101Val) | |
| 13 | g.36879389G= | CA2084883600 | SMAD9 | c.301C= (p.Leu101=) | |
| 13 | g.36879389G>T | CA387852605 | SMAD9 | c.301C>A (p.Leu101Met) | |
| 13 | g.36879390A>C | CA387852606 | SMAD9 | c.300T>G (p.Asp100Glu) | |
| 13 | g.36879390A>G | CA483190586 | SMAD9 | c.300T>C (p.Asp100=) | |
| 13 | g.36879390A>T | CA387852607 | SMAD9 | c.300T>A (p.Asp100Glu) | |
| 13 | g.36879391T>A | CA387852608 | SMAD9 | c.299A>T (p.Asp100Val) | |
| 13 | g.36879391T>C | CA387852609 | SMAD9 | c.299A>G (p.Asp100Gly) | |
| 13 | g.36879391T>G | CA387852610 | SMAD9 | c.299A>C (p.Asp100Ala) | |
| 13 | g.36879392C>A | CA387852611 | SMAD9 | c.298G>T (p.Asp100Tyr) | |
| 13 | g.36879392C>G | CA387852612 | SMAD9 | c.298G>C (p.Asp100His) | gnomAD v4 |
| 13 | g.36879392C>T | CA387852613 | SMAD9 | c.298G>A (p.Asp100Asn) | COSMIC COSMIC |
| 13 | g.36879393C>A | CA483190587 | SMAD9 | c.297G>T (p.Pro99=) | gnomAD v4 |
| 13 | g.36879393C= | CA2084883605 | SMAD9 | c.297G= (p.Pro99=) | |
| 13 | g.36879393C>G | CA483190588 | SMAD9 | c.297G>C (p.Pro99=) | |
| 13 | g.36879393C>T | CA6950601 | SMAD9 | c.297G>A (p.Pro99=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879395_36879401dup | CA2622694100 | SMAD9 | c.291_297dup (p.Asp100LeufsTer17) | gnomAD v4 |
| 13 | g.36879394G>A | CA387852616 | SMAD9 | c.296C>T (p.Pro99Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.36879394G>C | CA387852615 | SMAD9 | c.296C>G (p.Pro99Arg) | |
| 13 | g.36879394G= | CA2084883607 | SMAD9 | c.296C= (p.Pro99=) | |
| 13 | g.36879394G>T | CA387852614 | SMAD9 | c.296C>A (p.Pro99Gln) | gnomAD v4 |
| 13 | g.36879395G>A | CA387852617 | SMAD9 | c.295C>T (p.Pro99Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36879395G>C | CA6950602 | SMAD9 | c.295C>G (p.Pro99Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.36879395G= | CA2084883610 | SMAD9 | c.295C= (p.Pro99=) | |
| 13 | g.36879395G>T | CA387852618 | SMAD9 | c.295C>A (p.Pro99Thr) | |
| 13 | g.36879396C>A | CA387852619 | SMAD9 | c.294G>T (p.Trp98Cys) | |
| 13 | g.36879396C>G | CA387852620 | SMAD9 | c.294G>C (p.Trp98Cys) | |
| 13 | g.36879396C>T | CA387852621 | SMAD9 | c.294G>A (p.Trp98Ter) | |
| 13 | g.36879397C>A | CA387852622 | SMAD9 | c.293G>T (p.Trp98Leu) | |
| 13 | g.36879397C>G | CA387852623 | SMAD9 | c.293G>C (p.Trp98Ser) | |
| 13 | g.36879397C>T | CA387852624 | SMAD9 | c.293G>A (p.Trp98Ter) | |
| 13 | g.36879398A>C | CA387852625 | SMAD9 | c.292T>G (p.Trp98Gly) | |
| 13 | g.36879398A>G | CA387852626 | SMAD9 | c.292T>C (p.Trp98Arg) | gnomAD v4 |
| 13 | g.36879398A>T | CA387852627 | SMAD9 | c.292T>A (p.Trp98Arg) | |
| 13 | g.36879399G>A | CA483190589 | SMAD9 | c.291C>T (p.Arg97=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879399G>C | CA483190590 | SMAD9 | c.291C>G (p.Arg97=) | |
| 13 | g.36879399G= | CA2084883614 | SMAD9 | c.291C= (p.Arg97=) | |
| 13 | g.36879399G>T | CA483190591 | SMAD9 | c.291C>A (p.Arg97=) | |
| 13 | g.36879400C>A | CA387852629 | SMAD9 | c.290G>T (p.Arg97Leu) | gnomAD v4 |
| 13 | g.36879400C= | CA2084883617 | SMAD9 | c.290G= (p.Arg97=) | |
| 13 | g.36879400C>G | CA387852628 | SMAD9 | c.290G>C (p.Arg97Pro) | |
| 13 | g.36879400C>T | CA6950603 | SMAD9 | c.290G>A (p.Arg97His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.36879401G>A | CA387852630 | SMAD9 | c.289C>T (p.Arg97Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879401G>C | CA387852632 | SMAD9 | c.289C>G (p.Arg97Gly) | |
| 13 | g.36879401G= | CA2084883621 | SMAD9 | c.289C= (p.Arg97=) | |
| 13 | g.36879401G>T | CA387852631 | SMAD9 | c.289C>A (p.Arg97Ser) | COSMIC COSMIC |
| 13 | g.36879401_36879402insAAG | CA609038739 | SMAD9 | c.289_290insTTC (p.Trp96_Arg97insLeu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879402C>A | CA387852633 | SMAD9 | c.288G>T (p.Trp96Cys) | COSMIC COSMIC |
| 13 | g.36879402C= | CA2084883624 | SMAD9 | c.288G= (p.Trp96=) | |
| 13 | g.36879402C>G | CA387852635 | SMAD9 | c.288G>C (p.Trp96Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879402C>T | CA387852634 | SMAD9 | c.288G>A (p.Trp96Ter) | gnomAD v4 |
| 13 | g.36879403C>A | CA387852636 | SMAD9 | c.287G>T (p.Trp96Leu) | |
| 13 | g.36879403C>G | CA387852637 | SMAD9 | c.287G>C (p.Trp96Ser) | |
| 13 | g.36879403C>T | CA387852638 | SMAD9 | c.287G>A (p.Trp96Ter) | |
| 13 | g.36879404A>C | CA387852639 | SMAD9 | c.286T>G (p.Trp96Gly) | |
| 13 | g.36879404A>G | CA387852640 | SMAD9 | c.286T>C (p.Trp96Arg) | |
| 13 | g.36879404A>T | CA387852641 | SMAD9 | c.286T>A (p.Trp96Arg) | |
| 13 | g.36879405C>A | CA483190592 | SMAD9 | c.285G>T (p.Val95=) | |
| 13 | g.36879405C>G | CA483190593 | SMAD9 | c.285G>C (p.Val95=) | |
| 13 | g.36879405C>T | CA483190594 | SMAD9 | c.285G>A (p.Val95=) | gnomAD v4 |
| 13 | g.36879406A= | CA2084883627 | SMAD9 | c.284T= (p.Val95=) | |
| 13 | g.36879406A>C | CA387852642 | SMAD9 | c.284T>G (p.Val95Gly) | |
| 13 | g.36879406A>G | CA387852643 | SMAD9 | c.284T>C (p.Val95Ala) | dbSNP |
| 13 | g.36879406A>T | CA387852644 | SMAD9 | c.284T>A (p.Val95Glu) | |
| 13 | g.36879407C>A | CA248181295 | SMAD9 | c.283G>T (p.Val95Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36879407C= | CA2084883631 | SMAD9 | c.283G= (p.Val95=) | |
| 13 | g.36879407C>G | CA387852645 | SMAD9 | c.283G>C (p.Val95Leu) | |
| 13 | g.36879407C>T | CA387852646 | SMAD9 | c.283G>A (p.Val95Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879408G>A | CA6950604 | SMAD9 | c.282C>T (p.Arg94=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879408G>C | CA483190596 | SMAD9 | c.282C>G (p.Arg94=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879408G= | CA2084883633 | SMAD9 | c.282C= (p.Arg94=) | |
| 13 | g.36879408G>T | CA483190595 | SMAD9 | c.282C>A (p.Arg94=) | |
| 13 | g.36879409C>A | CA387852647 | SMAD9 | c.281G>T (p.Arg94Leu) | |
| 13 | g.36879409C= | CA2084883638 | SMAD9 | c.281G= (p.Arg94=) | |
| 13 | g.36879409C>G | CA6950606 | SMAD9 | c.281G>C (p.Arg94Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36879409C>T | CA6950605 | SMAD9 | c.281G>A (p.Arg94His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879410G>A | CA6950607 | SMAD9 | c.280C>T (p.Arg94Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879410G>C | CA387852648 | SMAD9 | c.280C>G (p.Arg94Gly) | gnomAD v4 |
| 13 | g.36879410G= | CA2084883642 | SMAD9 | c.280C= (p.Arg94=) | |
| 13 | g.36879410G>T | CA387852649 | SMAD9 | c.280C>A (p.Arg94Ser) | |
| 13 | g.36879411A= | CA2084883645 | SMAD9 | c.279T= (p.Cys93=) | |
| 13 | g.36879411A>C | CA387852650 | SMAD9 | c.279T>G (p.Cys93Trp) | |
| 13 | g.36879411A>G | CA483190597 | SMAD9 | c.279T>C (p.Cys93=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879411A>T | CA387852651 | SMAD9 | c.279T>A (p.Cys93Ter) | |
| 13 | g.36879412C>A | CA6950608 | SMAD9 | c.278G>T (p.Cys93Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36879412C= | CA2084883648 | SMAD9 | c.278G= (p.Cys93=) | |
| 13 | g.36879412C>G | CA387852652 | SMAD9 | c.278G>C (p.Cys93Ser) | |
| 13 | g.36879412C>T | CA387852653 | SMAD9 | c.278G>A (p.Cys93Tyr) | |
| 13 | g.36879413A= | CA2084883651 | SMAD9 | c.277T= (p.Cys93=) | |
| 13 | g.36879413A>C | CA387852656 | SMAD9 | c.277T>G (p.Cys93Gly) | |
| 13 | g.36879413A>G | CA387852655 | SMAD9 | c.277T>C (p.Cys93Arg) | dbSNP |
| 13 | g.36879413A>T | CA387852654 | SMAD9 | c.277T>A (p.Cys93Ser) | |
| 13 | g.36879414G>A | CA483190598 | SMAD9 | c.276C>T (p.Tyr92=) | |
| 13 | g.36879414G>C | CA387852657 | SMAD9 | c.276C>G (p.Tyr92Ter) | gnomAD v4 |
| 13 | g.36879414G>T | CA387852658 | SMAD9 | c.276C>A (p.Tyr92Ter) | |
| 13 | g.36879415T>A | CA387852659 | SMAD9 | c.275A>T (p.Tyr92Phe) | gnomAD v4 |
| 13 | g.36879415T>C | CA387852660 | SMAD9 | c.275A>G (p.Tyr92Cys) | COSMIC COSMIC |
| 13 | g.36879415T>G | CA387852661 | SMAD9 | c.275A>C (p.Tyr92Ser) | |
| 13 | g.36879416A>C | CA387852662 | SMAD9 | c.274T>G (p.Tyr92Asp) | |
| 13 | g.36879416A>G | CA387852663 | SMAD9 | c.274T>C (p.Tyr92His) | |
| 13 | g.36879416A>T | CA387852664 | SMAD9 | c.274T>A (p.Tyr92Asn) | |
| 13 | g.36879418del | CA2622694101 | SMAD9 | c.274del (p.Tyr92ThrfsTer16) | gnomAD v4 |
| 13 | g.36879417A>C | CA387852665 | SMAD9 | c.273T>G (p.Ile91Met) | |
| 13 | g.36879417A>G | CA483190599 | SMAD9 | c.273T>C (p.Ile91=) | |
| 13 | g.36879417A>T | CA483190600 | SMAD9 | c.273T>A (p.Ile91=) | dbSNP |
| 13 | g.36879418A>C | CA387852666 | SMAD9 | c.272T>G (p.Ile91Ser) | |
| 13 | g.36879418A>G | CA387852667 | SMAD9 | c.272T>C (p.Ile91Thr) | |
| 13 | g.36879418A>T | CA387852668 | SMAD9 | c.272T>A (p.Ile91Asn) | |
| 13 | g.36879419T>A | CA387852671 | SMAD9 | c.271A>T (p.Ile91Phe) | |
| 13 | g.36879419T>C | CA387852669 | SMAD9 | c.271A>G (p.Ile91Val) | |
| 13 | g.36879419T>G | CA387852670 | SMAD9 | c.271A>C (p.Ile91Leu) | |
| 13 | g.36879420C>A | CA483190601 | SMAD9 | c.270G>T (p.Val90=) | |
| 13 | g.36879420C= | CA2084883654 | SMAD9 | c.270G= (p.Val90=) | |
| 13 | g.36879420C>G | CA483190602 | SMAD9 | c.270G>C (p.Val90=) | |
| 13 | g.36879420C>T | CA483190603 | SMAD9 | c.270G>A (p.Val90=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879421A= | CA2084883658 | SMAD9 | c.269T= (p.Val90=) | |
| 13 | g.36879421A>C | CA6950609 | SMAD9 | c.269T>G (p.Val90Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.36879421A>G | CA387852672 | SMAD9 | c.269T>C (p.Val90Ala) | gnomAD v4 |
| 13 | g.36879421A>T | CA387852673 | SMAD9 | c.269T>A (p.Val90Glu) | |
| 13 | g.36879422C>A | CA387852674 | SMAD9 | c.268G>T (p.Val90Leu) | |
| 13 | g.36879422C= | CA2084883661 | SMAD9 | c.268G= (p.Val90=) | |
| 13 | g.36879422C>G | CA387852676 | SMAD9 | c.268G>C (p.Val90Leu) | |
| 13 | g.36879422C>T | CA358871 | SMAD9 | c.268G>A (p.Val90Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879423A>C | CA387852680 | SMAD9 | c.267T>G (p.His89Gln) | |
| 13 | g.36879423A>G | CA483190605 | SMAD9 | c.267T>C (p.His89=) | dbSNP |
| 13 | g.36879423A>T | CA387852681 | SMAD9 | c.267T>A (p.His89Gln) | |
| 13 | g.36879424T>A | CA387852683 | SMAD9 | c.266A>T (p.His89Leu) | |
| 13 | g.36879424T>C | CA387852685 | SMAD9 | c.266A>G (p.His89Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879424T>G | CA387852687 | SMAD9 | c.266A>C (p.His89Pro) | |
| 13 | g.36879424T= | CA2084883663 | SMAD9 | c.266A= (p.His89=) | |
| 13 | g.36879425G>A | CA387852692 | SMAD9 | c.265C>T (p.His89Tyr) | |
| 13 | g.36879425G>C | CA387852694 | SMAD9 | c.265C>G (p.His89Asp) | |
| 13 | g.36879425G>T | CA387852690 | SMAD9 | c.265C>A (p.His89Asn) | gnomAD v4 |
| 13 | g.36879426G>A | CA483190607 | SMAD9 | c.264C>T (p.Pro88=) | gnomAD v4 COSMIC COSMIC |
| 13 | g.36879426G>C | CA483190608 | SMAD9 | c.264C>G (p.Pro88=) | dbSNP |
| 13 | g.36879426G= | CA2084883666 | SMAD9 | c.264C= (p.Pro88=) | |
| 13 | g.36879426G>T | CA483190609 | SMAD9 | c.264C>A (p.Pro88=) | |
| 13 | g.36879427G>A | CA387852701 | SMAD9 | c.263C>T (p.Pro88Leu) | |
| 13 | g.36879427G>C | CA387852697 | SMAD9 | c.263C>G (p.Pro88Arg) | |
| 13 | g.36879427G>T | CA387852699 | SMAD9 | c.263C>A (p.Pro88His) | |
| 13 | g.36879428G>A | CA387852703 | SMAD9 | c.262C>T (p.Pro88Ser) | |
| 13 | g.36879428G>C | CA387852705 | SMAD9 | c.262C>G (p.Pro88Ala) | |
| 13 | g.36879428G>T | CA387852707 | SMAD9 | c.262C>A (p.Pro88Thr) | gnomAD v4 |
| 13 | g.36879429C>A | CA483424607 | SMAD9 | c.261G>T (p.Leu87=) | |
| 13 | g.36879429C= | CA2084883668 | SMAD9 | c.261G= (p.Leu87=) | |
| 13 | g.36879429C>G | CA483424608 | SMAD9 | c.261G>C (p.Leu87=) | |
| 13 | g.36879429C>T | CA483424606 | SMAD9 | c.261G>A (p.Leu87=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879430A= | CA2084883671 | SMAD9 | c.260T= (p.Leu87=) | |
| 13 | g.36879430A>C | CA387852713 | SMAD9 | c.260T>G (p.Leu87Arg) | |
| 13 | g.36879430A>G | CA387852712 | SMAD9 | c.260T>C (p.Leu87Pro) | dbSNP |
| 13 | g.36879430A>T | CA387852710 | SMAD9 | c.260T>A (p.Leu87Gln) | |
| 13 | g.36879431G>A | CA6950610 | SMAD9 | c.259C>T (p.Leu87=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.36879431G>C | CA387852716 | SMAD9 | c.259C>G (p.Leu87Val) | |
| 13 | g.36879431G= | CA2084883673 | SMAD9 | c.259C= (p.Leu87=) | |
| 13 | g.36879431G>T | CA387852718 | SMAD9 | c.259C>A (p.Leu87Met) | |
| 13 | g.36879432G>A | CA483424612 | SMAD9 | c.258C>T (p.Gly86=) | |
| 13 | g.36879432G>C | CA483424610 | SMAD9 | c.258C>G (p.Gly86=) | |
| 13 | g.36879432G= | CA2084883676 | SMAD9 | c.258C= (p.Gly86=) | |
| 13 | g.36879432G>T | CA483424611 | SMAD9 | c.258C>A (p.Gly86=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879433C>A | CA387852720 | SMAD9 | c.257G>T (p.Gly86Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879433C= | CA2084883680 | SMAD9 | c.257G= (p.Gly86=) | |
| 13 | g.36879433C>G | CA387852723 | SMAD9 | c.257G>C (p.Gly86Ala) | |
| 13 | g.36879433C>T | CA387852725 | SMAD9 | c.257G>A (p.Gly86Asp) | |
| 13 | g.36879434C>A | CA387852726 | SMAD9 | c.256G>T (p.Gly86Cys) | |
| 13 | g.36879434C>G | CA387852730 | SMAD9 | c.256G>C (p.Gly86Arg) | |
| 13 | g.36879434C>T | CA387852728 | SMAD9 | c.256G>A (p.Gly86Ser) | gnomAD v4 |
| 13 | g.36879435C>A | CA387852732 | SMAD9 | c.255G>T (p.Lys85Asn) | |
| 13 | g.36879435C= | CA2084883683 | SMAD9 | c.255G= (p.Lys85=) | |
| 13 | g.36879435C>G | CA387852734 | SMAD9 | c.255G>C (p.Lys85Asn) | |
| 13 | g.36879435C>T | CA483424614 | SMAD9 | c.255G>A (p.Lys85=) | dbSNP gnomAD v2 |
| 13 | g.36879436T>A | CA387852736 | SMAD9 | c.254A>T (p.Lys85Met) | |
| 13 | g.36879436T>C | CA387852738 | SMAD9 | c.254A>G (p.Lys85Arg) | |
| 13 | g.36879436T>G | CA387852740 | SMAD9 | c.254A>C (p.Lys85Thr) | |
| 13 | g.36879437T>A | CA387852744 | SMAD9 | c.253A>T (p.Lys85Ter) | |
| 13 | g.36879437T>C | CA387852746 | SMAD9 | c.253A>G (p.Lys85Glu) | |
| 13 | g.36879437T>G | CA387852748 | SMAD9 | c.253A>C (p.Lys85Gln) | |
| 13 | g.36879438G>A | CA483424619 | SMAD9 | c.252C>T (p.Arg84=) | |
| 13 | g.36879438G>C | CA483424621 | SMAD9 | c.252C>G (p.Arg84=) | |
| 13 | g.36879438G= | CA2084883685 | SMAD9 | c.252C= (p.Arg84=) | |
| 13 | g.36879438G>T | CA483424622 | SMAD9 | c.252C>A (p.Arg84=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879439C>A | CA387852750 | SMAD9 | c.251G>T (p.Arg84Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879439C= | CA2084883689 | SMAD9 | c.251G= (p.Arg84=) | |
| 13 | g.36879439C>G | CA387852752 | SMAD9 | c.251G>C (p.Arg84Pro) | |
| 13 | g.36879439C>T | CA6950611 | SMAD9 | c.251G>A (p.Arg84His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879440G>A | CA6950612 | SMAD9 | c.250C>T (p.Arg84Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879440G>C | CA387852754 | SMAD9 | c.250C>G (p.Arg84Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879440G= | CA2084883692 | SMAD9 | c.250C= (p.Arg84=) | |
| 13 | g.36879440G>T | CA387852753 | SMAD9 | c.250C>A (p.Arg84Ser) | |
| 13 | g.36879441G>A | CA483424624 | SMAD9 | c.249C>T (p.His83=) | |
| 13 | g.36879441G>C | CA387852757 | SMAD9 | c.249C>G (p.His83Gln) | |
| 13 | g.36879441G>T | CA387852759 | SMAD9 | c.249C>A (p.His83Gln) | |
| 13 | g.36879442T>A | CA387852762 | SMAD9 | c.248A>T (p.His83Leu) | |
| 13 | g.36879442T>C | CA387852764 | SMAD9 | c.248A>G (p.His83Arg) | gnomAD v4 |
| 13 | g.36879442T>G | CA387852767 | SMAD9 | c.248A>C (p.His83Pro) | |
| 13 | g.36879443G>A | CA387852774 | SMAD9 | c.247C>T (p.His83Tyr) | |
| 13 | g.36879443G>C | CA387852772 | SMAD9 | c.247C>G (p.His83Asp) | |
| 13 | g.36879443G>T | CA387852769 | SMAD9 | c.247C>A (p.His83Asn) | |
| 13 | g.36879445dup | CA2622694102 | SMAD9 | c.247dup (p.His83ProfsTer?) | gnomAD v4 |
| 13 | g.36879444G>A | CA483424628 | SMAD9 | c.246C>T (p.Ser82=) | |
| 13 | g.36879444G>C | CA483424629 | SMAD9 | c.246C>G (p.Ser82=) | |
| 13 | g.36879444G>T | CA483424630 | SMAD9 | c.246C>A (p.Ser82=) | gnomAD v4 |
| 13 | g.36879445G>A | CA387852776 | SMAD9 | c.245C>T (p.Ser82Phe) | |
| 13 | g.36879445G>C | CA387852782 | SMAD9 | c.245C>G (p.Ser82Cys) | |
| 13 | g.36879445G>T | CA387852785 | SMAD9 | c.245C>A (p.Ser82Tyr) | |
| 13 | g.36879446A>C | CA387852788 | SMAD9 | c.244T>G (p.Ser82Ala) | |
| 13 | g.36879446A>G | CA387852790 | SMAD9 | c.244T>C (p.Ser82Pro) | |
| 13 | g.36879446A>T | CA387852792 | SMAD9 | c.244T>A (p.Ser82Thr) | |
| 13 | g.36879447C>A | CA483424634 | SMAD9 | c.243G>T (p.Val81=) | |
| 13 | g.36879447C>G | CA483424636 | SMAD9 | c.243G>C (p.Val81=) | |
| 13 | g.36879447C>T | CA483424637 | SMAD9 | c.243G>A (p.Val81=) | gnomAD v4 |
| 13 | g.36879448A>C | CA387852795 | SMAD9 | c.242T>G (p.Val81Gly) | |
| 13 | g.36879448A>G | CA387852798 | SMAD9 | c.242T>C (p.Val81Ala) | |
| 13 | g.36879448A>T | CA387852796 | SMAD9 | c.242T>A (p.Val81Glu) | |
| 13 | g.36879449C>A | CA387852800 | SMAD9 | c.241G>T (p.Val81Leu) | |
| 13 | g.36879449C>G | CA387852802 | SMAD9 | c.241G>C (p.Val81Leu) | |
| 13 | g.36879449C>T | CA387852803 | SMAD9 | c.241G>A (p.Val81Met) | gnomAD v4 |
| 13 | g.36879450C>A | CA387852805 | SMAD9 | c.240G>T (p.Gln80His) | |
| 13 | g.36879450C>G | CA387852807 | SMAD9 | c.240G>C (p.Gln80His) | |
| 13 | g.36879450C>T | CA483424639 | SMAD9 | c.240G>A (p.Gln80=) | |
| 13 | g.36879451T>A | CA387852809 | SMAD9 | c.239A>T (p.Gln80Leu) | |
| 13 | g.36879451T>C | CA387852812 | SMAD9 | c.239A>G (p.Gln80Arg) | |
| 13 | g.36879451T>G | CA387852814 | SMAD9 | c.239A>C (p.Gln80Pro) | |
| 13 | g.36879452G>A | CA387852816 | SMAD9 | c.238C>T (p.Gln80Ter) | |
| 13 | g.36879452G>C | CA387852818 | SMAD9 | c.238C>G (p.Gln80Glu) | |
| 13 | g.36879452G>T | CA387852820 | SMAD9 | c.238C>A (p.Gln80Lys) | |
| 13 | g.36879453C>A | CA483424642 | SMAD9 | c.237G>T (p.Leu79=) | dbSNP |
| 13 | g.36879453C= | CA2084883697 | SMAD9 | c.237G= (p.Leu79=) | |
| 13 | g.36879453C>G | CA483424644 | SMAD9 | c.237G>C (p.Leu79=) | |
| 13 | g.36879453C>T | CA6950613 | SMAD9 | c.237G>A (p.Leu79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36879454A>C | CA387852827 | SMAD9 | c.236T>G (p.Leu79Arg) | |
| 13 | g.36879454A>G | CA387852829 | SMAD9 | c.236T>C (p.Leu79Pro) | |
| 13 | g.36879454A>T | CA387852824 | SMAD9 | c.236T>A (p.Leu79Gln) | |
| 13 | g.36879455G>A | CA483424647 | SMAD9 | c.235C>T (p.Leu79=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879455G>C | CA387852834 | SMAD9 | c.235C>G (p.Leu79Val) | |
| 13 | g.36879455G= | CA2084883700 | SMAD9 | c.235C= (p.Leu79=) | |
| 13 | g.36879455G>T | CA387852832 | SMAD9 | c.235C>A (p.Leu79Met) | |
| 13 | g.36879456C>A | CA483424649 | SMAD9 | c.234G>T (p.Arg78=) | |
| 13 | g.36879456C>G | CA483424650 | SMAD9 | c.234G>C (p.Arg78=) | |
| 13 | g.36879456C>T | CA483424651 | SMAD9 | c.234G>A (p.Arg78=) | |
| 13 | g.36879457C>A | CA387852840 | SMAD9 | c.233G>T (p.Arg78Leu) | |
| 13 | g.36879457C= | CA2084883704 | SMAD9 | c.233G= (p.Arg78=) | |
| 13 | g.36879457C>G | CA387852838 | SMAD9 | c.233G>C (p.Arg78Pro) | |
| 13 | g.36879457C>T | CA6950615 | SMAD9 | c.233G>A (p.Arg78Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879457_36879491delinsCGCCCGTCCAGGGAGCGGGGAATCGTGACGCATTT | CA2084883706 | SMAD9 | c.199_233delinsAAATGCGTCACGATTCCCCGCTCCCTGGACGGGCG (p.Lys67=) | |
| 13 | g.36879458G>A | CA6950617 | SMAD9 | c.232C>T (p.Arg78Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36879458G>C | CA387852846 | SMAD9 | c.232C>G (p.Arg78Gly) | |
| 13 | g.36879458G= | CA2084883709 | SMAD9 | c.232C= (p.Arg78=) | |
| 13 | g.36879458G>T | CA6950616 | SMAD9 | c.232C>A (p.Arg78=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36879460_36879493del | CA6950614 | SMAD9 | c.199_232del (p.Lys67GlyfsTer13) | dbSNP ExAC gnomAD v2 |
| 13 | g.36879459C>A | CA483424655 | SMAD9 | c.231G>T (p.Gly77=) | |
| 13 | g.36879459C>G | CA483424657 | SMAD9 | c.231G>C (p.Gly77=) | |
| 13 | g.36879459C>T | CA483424658 | SMAD9 | c.231G>A (p.Gly77=) | |
| 13 | g.36879460C>A | CA387852852 | SMAD9 | c.230G>T (p.Gly77Val) | |
| 13 | g.36879460C= | CA2084883713 | SMAD9 | c.230G= (p.Gly77=) | |
| 13 | g.36879460C>G | CA387852854 | SMAD9 | c.230G>C (p.Gly77Ala) | |
| 13 | g.36879460C>T | CA387852856 | SMAD9 | c.230G>A (p.Gly77Glu) | dbSNP gnomAD v4 |
| 13 | g.36879461C>A | CA387852859 | SMAD9 | c.229G>T (p.Gly77Trp) | gnomAD v4 |
| 13 | g.36879461C= | CA2084883719 | SMAD9 | c.229G= (p.Gly77=) | |
| 13 | g.36879461C>G | CA387852861 | SMAD9 | c.229G>C (p.Gly77Arg) | |
| 13 | g.36879461C>T | CA6950618 | SMAD9 | c.229G>A (p.Gly77Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879462G>A | CA248181419 | SMAD9 | n.667C>T c.228C>T (p.Asp76=) n.545C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36879462G>C | CA387852865 | SMAD9 | n.667C>G c.228C>G (p.Asp76Glu) n.545C>G | gnomAD v4 |
| 13 | g.36879462G= | CA2084883722 | SMAD9 | n.667C= c.228C= (p.Asp76=) n.545C= | |
| 13 | g.36879462G>T | CA387852867 | SMAD9 | n.667C>A c.228C>A (p.Asp76Glu) n.545C>A | |
| 13 | g.36879463T>A | CA387852874 | SMAD9 | n.666A>T c.227A>T (p.Asp76Val) n.544A>T | |
| 13 | g.36879463T>C | CA387852870 | SMAD9 | n.666A>G c.227A>G (p.Asp76Gly) n.544A>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879463T>G | CA387852871 | SMAD9 | n.666A>C c.227A>C (p.Asp76Ala) n.544A>C | |
| 13 | g.36879463T= | CA2084883724 | SMAD9 | n.666A= c.227A= (p.Asp76=) n.544A= | |
| 13 | g.36879464C>A | CA387852877 | SMAD9 | n.665G>T c.226G>T (p.Asp76Tyr) n.543G>T | gnomAD v4 |
| 13 | g.36879464C>G | CA387852879 | SMAD9 | n.665G>C c.226G>C (p.Asp76His) n.543G>C | |
| 13 | g.36879464C>T | CA387852881 | SMAD9 | n.665G>A c.226G>A (p.Asp76Asn) n.543G>A | |
| 13 | g.36879465C>A | CA483424664 | SMAD9 | n.664G>T c.225G>T (p.Leu75=) n.542G>T | |
| 13 | g.36879465C>G | CA483424665 | SMAD9 | n.664G>C c.225G>C (p.Leu75=) n.542G>C | gnomAD v4 |
| 13 | g.36879465C>T | CA483424666 | SMAD9 | n.664G>A c.225G>A (p.Leu75=) n.542G>A | |
| 13 | g.36879466A= | CA2084883728 | SMAD9 | n.663T= c.224T= (p.Leu75=) n.541T= | |
| 13 | g.36879466A>C | CA387852884 | SMAD9 | n.663T>G c.224T>G (p.Leu75Arg) n.541T>G | |
| 13 | g.36879466A>G | CA248181421 | SMAD9 | n.663T>C c.224T>C (p.Leu75Pro) n.541T>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879466A>T | CA387852888 | SMAD9 | n.663T>A c.224T>A (p.Leu75Gln) n.541T>A | |
| 13 | g.36879467G>A | CA483424671 | SMAD9 | n.662C>T c.223C>T (p.Leu75=) n.540C>T | |
| 13 | g.36879467G>C | CA387852891 | SMAD9 | n.662C>G c.223C>G (p.Leu75Val) n.540C>G | |
| 13 | g.36879467G>T | CA387852892 | SMAD9 | n.662C>A c.223C>A (p.Leu75Met) n.540C>A | |
| 13 | g.36879468G>A | CA483424672 | SMAD9 | n.661C>T c.222C>T (p.Ser74=) n.539C>T | dbSNP |
| 13 | g.36879468G>C | CA483424673 | SMAD9 | n.661C>G c.222C>G (p.Ser74=) n.539C>G | gnomAD v4 |
| 13 | g.36879468G>T | CA483424674 | SMAD9 | n.661C>A c.222C>A (p.Ser74=) n.539C>A | |
| 13 | g.36879469G>A | CA6950619 | SMAD9 | n.660C>T c.221C>T (p.Ser74Phe) n.538C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.36879469G>C | CA387852895 | SMAD9 | n.660C>G c.221C>G (p.Ser74Cys) n.538C>G | |
| 13 | g.36879469G= | CA2084883732 | SMAD9 | n.660C= c.221C= (p.Ser74=) n.538C= | |
| 13 | g.36879469G>T | CA387852896 | SMAD9 | n.660C>A c.221C>A (p.Ser74Tyr) n.538C>A | |
| 13 | g.36879470A>C | CA387852900 | SMAD9 | n.659T>G c.220T>G (p.Ser74Ala) n.537T>G | |
| 13 | g.36879470A>G | CA387852902 | SMAD9 | n.659T>C c.220T>C (p.Ser74Pro) n.537T>C | |
| 13 | g.36879470A>T | CA387852898 | SMAD9 | n.659T>A c.220T>A (p.Ser74Thr) n.537T>A | |
| 13 | g.36879471G>A | CA483424676 | SMAD9 | n.658C>T c.219C>T (p.Arg73=) n.536C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879471G>C | CA483424677 | SMAD9 | n.658C>G c.219C>G (p.Arg73=) n.536C>G | gnomAD v4 |
| 13 | g.36879471G>T | CA483424678 | SMAD9 | n.658C>A c.219C>A (p.Arg73=) n.536C>A | |
| 13 | g.36879472C>A | CA387852905 | SMAD9 | n.657G>T c.218G>T (p.Arg73Leu) n.535G>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879472C= | CA2084883736 | SMAD9 | n.657G= c.218G= (p.Arg73=) n.535G= | |
| 13 | g.36879472C>G | CA387852907 | SMAD9 | n.657G>C c.218G>C (p.Arg73Pro) n.535G>C | gnomAD v4 |
| 13 | g.36879472C>T | CA387852909 | SMAD9 | n.657G>A c.218G>A (p.Arg73His) n.535G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.36879472_36879473delinsCG | CA2084883734 | SMAD9 | n.656_657delinsCG c.217_218delinsCG (p.Arg73=) n.534_535delinsCG | |
| 13 | g.36879473G>A | CA6950620 | SMAD9 | n.656C>T c.217C>T (p.Arg73Cys) n.534C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36879473G>C | CA248181429 | SMAD9 | n.656C>G c.217C>G (p.Arg73Gly) n.534C>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.36879473G= | CA2084883743 | SMAD9 | n.656C= c.217C= (p.Arg73=) n.534C= | |
| 13 | g.36879473G>T | CA387852915 | SMAD9 | n.656C>A c.217C>A (p.Arg73Ser) n.534C>A | gnomAD v4 |
| 13 | g.36879476dup | CA2622694103 | SMAD9 | n.656dup c.217dup (p.Arg73ProfsTer?) n.534dup | gnomAD v4 |
| 13 | g.36879476del | CA248181436 | SMAD9 | n.656del c.217del (p.Arg73AlafsTer18) n.534del | dbSNP COSMIC COSMIC |