| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7455858G>A | CA397802511 | CHRNB1 | c.1282G>A (p.Ala428Thr) c.1066G>A (p.Ala356Thr) c.945G>A c.-111G>A (n.-111G>A) c.919G>A (p.Ala307Thr) | |
| 17 | g.7455858G>C | CA397802513 | CHRNB1 | c.1282G>C (p.Ala428Pro) c.1066G>C (p.Ala356Pro) c.945G>C c.-111G>C (n.-111G>C) c.919G>C (p.Ala307Pro) | |
| 17 | g.7455858G>T | CA397802515 | CHRNB1 | c.1282G>T (p.Ala428Ser) c.1066G>T (p.Ala356Ser) c.945G>T c.-111G>T (n.-111G>T) c.919G>T (p.Ala307Ser) | |
| 17 | g.7455859C>A | CA397802518 | CHRNB1 | c.1283C>A (p.Ala428Asp) c.1067C>A (p.Ala356Asp) c.946C>A c.-110C>A (n.-110C>A) c.920C>A (p.Ala307Asp) | |
| 17 | g.7455859C>G | CA397802520 | CHRNB1 | c.1283C>G (p.Ala428Gly) c.1067C>G (p.Ala356Gly) c.946C>G c.-110C>G (n.-110C>G) c.920C>G (p.Ala307Gly) | |
| 17 | g.7455859C>T | CA397802522 | CHRNB1 | c.1283C>T (p.Ala428Val) c.1067C>T (p.Ala356Val) c.946C>T c.-110C>T (n.-110C>T) c.920C>T (p.Ala307Val) | COSMIC |
| 17 | g.7455860C>A | CA497744985 | CHRNB1 | c.1284C>A (p.Ala428=) c.1068C>A (p.Ala356=) c.947C>A c.-109C>A (n.-109C>A) c.921C>A (p.Ala307=) | |
| 17 | g.7455860C>G | CA497744986 | CHRNB1 | c.1284C>G (p.Ala428=) c.1068C>G (p.Ala356=) c.947C>G c.-109C>G (n.-109C>G) c.921C>G (p.Ala307=) | |
| 17 | g.7455860C>T | CA497744987 | CHRNB1 | c.1284C>T (p.Ala428=) c.1068C>T (p.Ala356=) c.947C>T c.-109C>T (n.-109C>T) c.921C>T (p.Ala307=) | |
| 17 | g.7455861C>A | CA397802525 | CHRNB1 | c.1285C>A (p.Leu429Met) c.1069C>A (p.Leu357Met) c.-108C>A (n.-108C>A) c.922C>A (p.Leu308Met) | |
| 17 | g.7455861C>G | CA397802528 | CHRNB1 | c.1285C>G (p.Leu429Val) c.1069C>G (p.Leu357Val) c.-108C>G (n.-108C>G) c.922C>G (p.Leu308Val) | |
| 17 | g.7455861C>T | CA497744988 | CHRNB1 | c.1285C>T (p.Leu429=) c.1069C>T (p.Leu357=) c.-108C>T (n.-108C>T) c.922C>T (p.Leu308=) | |
| 17 | g.7455862T>A | CA8348029 | CHRNB1 | c.1286T>A (p.Leu429Gln) c.1070T>A (p.Leu357Gln) c.-107T>A (n.-107T>A) c.923T>A (p.Leu308Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7455862T>C | CA397802532 | CHRNB1 | c.1286T>C (p.Leu429Pro) c.1070T>C (p.Leu357Pro) c.-107T>C (n.-107T>C) c.923T>C (p.Leu308Pro) | |
| 17 | g.7455862T>G | CA397802535 | CHRNB1 | c.1286T>G (p.Leu429Arg) c.1070T>G (p.Leu357Arg) c.-107T>G (n.-107T>G) c.923T>G (p.Leu308Arg) | |
| 17 | g.7455862T= | CA2245822575 | CHRNB1 | c.1286T= (p.Leu429=) c.1070T= (p.Leu357=) c.-107T= (n.-107T=) c.923T= (p.Leu308=) | |
| 17 | g.7455863G>A | CA497744989 | CHRNB1 | c.1287G>A (p.Leu429=) c.1071G>A (p.Leu357=) c.-106G>A (n.-106G>A) c.924G>A (p.Leu308=) | |
| 17 | g.7455863G>C | CA497744990 | CHRNB1 | c.1287G>C (p.Leu429=) c.1071G>C (p.Leu357=) c.-106G>C (n.-106G>C) c.924G>C (p.Leu308=) | |
| 17 | g.7455863G>T | CA497744991 | CHRNB1 | c.1287G>T (p.Leu429=) c.1071G>T (p.Leu357=) c.-106G>T (n.-106G>T) c.924G>T (p.Leu308=) | |
| 17 | g.7455864C>A | CA397802537 | CHRNB1 | c.1288C>A (p.Leu430Ile) c.1072C>A (p.Leu358Ile) c.-105C>A (n.-105C>A) c.925C>A (p.Leu309Ile) | |
| 17 | g.7455864C>G | CA397802542 | CHRNB1 | c.1288C>G (p.Leu430Val) c.1072C>G (p.Leu358Val) c.-105C>G (n.-105C>G) c.925C>G (p.Leu309Val) | |
| 17 | g.7455864C>T | CA397802539 | CHRNB1 | c.1288C>T (p.Leu430Phe) c.1072C>T (p.Leu358Phe) c.-105C>T (n.-105C>T) c.925C>T (p.Leu309Phe) | |
| 17 | g.7455865T>A | CA397802544 | CHRNB1 | c.1289T>A (p.Leu430His) c.1073T>A (p.Leu358His) c.-104T>A (n.-104T>A) c.926T>A (p.Leu309His) | |
| 17 | g.7455865T>C | CA397802546 | CHRNB1 | c.1289T>C (p.Leu430Pro) c.1073T>C (p.Leu358Pro) c.-104T>C (n.-104T>C) c.926T>C (p.Leu309Pro) | |
| 17 | g.7455865T>G | CA397802549 | CHRNB1 | c.1289T>G (p.Leu430Arg) c.1073T>G (p.Leu358Arg) c.-104T>G (n.-104T>G) c.926T>G (p.Leu309Arg) | |
| 17 | g.7455866T>A | CA497744992 | CHRNB1 | c.1290T>A (p.Leu430=) c.1074T>A (p.Leu358=) c.-103T>A (n.-103T>A) c.927T>A (p.Leu309=) | |
| 17 | g.7455866T>C | CA497744993 | CHRNB1 | c.1290T>C (p.Leu430=) c.1074T>C (p.Leu358=) c.-103T>C (n.-103T>C) c.927T>C (p.Leu309=) | |
| 17 | g.7455866T>G | CA497744994 | CHRNB1 | c.1290T>G (p.Leu430=) c.1074T>G (p.Leu358=) c.-103T>G (n.-103T>G) c.927T>G (p.Leu309=) | |
| 17 | g.7455866_7455867delinsTC | CA2245822576 | CHRNB1 | c.1290_1291delinsTC (p.Leu430=) c.1074_1075delinsTC (p.Leu358=) c.-103_-102delinsTC (n.-103_-102delinsTC) c.927_928delinsTC (p.Leu309=) | |
| 17 | g.7455867C>A | CA397802552 | CHRNB1 | c.1291C>A (p.Pro431Thr) c.1075C>A (p.Pro359Thr) c.-102C>A (n.-102C>A) c.928C>A (p.Pro310Thr) | |
| 17 | g.7455867C>G | CA397802554 | CHRNB1 | c.1291C>G (p.Pro431Ala) c.1075C>G (p.Pro359Ala) c.-102C>G (n.-102C>G) c.928C>G (p.Pro310Ala) | |
| 17 | g.7455867C>T | CA397802557 | CHRNB1 | c.1291C>T (p.Pro431Ser) c.1075C>T (p.Pro359Ser) c.-102C>T (n.-102C>T) c.928C>T (p.Pro310Ser) | ClinVar |
| 17 | g.7455868del | CA497744995 | CHRNB1 | c.1292del (p.Pro431ArgfsTer26) c.1076del (p.Pro359ArgfsTer26) c.-101del (n.-101del) c.929del (p.Pro310ArgfsTer26) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455868C>A | CA397802559 | CHRNB1 | c.1292C>A (p.Pro431Gln) c.1076C>A (p.Pro359Gln) c.-101C>A (n.-101C>A) c.929C>A (p.Pro310Gln) | |
| 17 | g.7455868C= | CA2245822577 | CHRNB1 | c.1292C= (p.Pro431=) c.1076C= (p.Pro359=) c.-101C= (n.-101C=) c.929C= (p.Pro310=) | |
| 17 | g.7455868C>G | CA397802561 | CHRNB1 | c.1292C>G (p.Pro431Arg) c.1076C>G (p.Pro359Arg) c.-101C>G (n.-101C>G) c.929C>G (p.Pro310Arg) | dbSNP |
| 17 | g.7455868C>T | CA397802564 | CHRNB1 | c.1292C>T (p.Pro431Leu) c.1076C>T (p.Pro359Leu) c.-101C>T (n.-101C>T) c.929C>T (p.Pro310Leu) | |
| 17 | g.7455869G>A | CA497744996 | CHRNB1 | c.1293G>A (p.Pro431=) c.1077G>A (p.Pro359=) c.-100G>A (n.-100G>A) c.930G>A (p.Pro310=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455869G>C | CA497744998 | CHRNB1 | c.1293G>C (p.Pro431=) c.1077G>C (p.Pro359=) c.-100G>C (n.-100G>C) c.930G>C (p.Pro310=) | |
| 17 | g.7455869G= | CA2245822578 | CHRNB1 | c.1293G= (p.Pro431=) c.1077G= (p.Pro359=) c.-100G= (n.-100G=) c.930G= (p.Pro310=) | |
| 17 | g.7455869G>T | CA497744997 | CHRNB1 | c.1293G>T (p.Pro431=) c.1077G>T (p.Pro359=) c.-100G>T (n.-100G>T) c.930G>T (p.Pro310=) | |
| 17 | g.7455870G>A | CA397802566 | CHRNB1 | c.1294G>A (p.Glu432Lys) c.1078G>A (p.Glu360Lys) c.-99G>A (n.-99G>A) c.931G>A (p.Glu311Lys) | |
| 17 | g.7455870G>C | CA397802569 | CHRNB1 | c.1294G>C (p.Glu432Gln) c.1078G>C (p.Glu360Gln) c.-99G>C (n.-99G>C) c.931G>C (p.Glu311Gln) | |
| 17 | g.7455870G>T | CA397802572 | CHRNB1 | c.1294G>T (p.Glu432Ter) c.1078G>T (p.Glu360Ter) c.-99G>T (n.-99G>T) c.931G>T (p.Glu311Ter) | |
| 17 | g.7455871A>C | CA397802574 | CHRNB1 | c.1295A>C (p.Glu432Ala) c.1079A>C (p.Glu360Ala) c.-98A>C (n.-98A>C) c.932A>C (p.Glu311Ala) | |
| 17 | g.7455871A>G | CA397802578 | CHRNB1 | c.1295A>G (p.Glu432Gly) c.1079A>G (p.Glu360Gly) c.-98A>G (n.-98A>G) c.932A>G (p.Glu311Gly) | |
| 17 | g.7455871A>T | CA397802575 | CHRNB1 | c.1295A>T (p.Glu432Val) c.1079A>T (p.Glu360Val) c.-98A>T (n.-98A>T) c.932A>T (p.Glu311Val) | |
| 17 | g.7455872G>A | CA497744999 | CHRNB1 | c.1296G>A (p.Glu432=) c.1080G>A (p.Glu360=) c.-97G>A (n.-97G>A) c.933G>A (p.Glu311=) | |
| 17 | g.7455872G>C | CA397802580 | CHRNB1 | c.1296G>C (p.Glu432Asp) c.1080G>C (p.Glu360Asp) c.-97G>C (n.-97G>C) c.933G>C (p.Glu311Asp) | |
| 17 | g.7455872G>T | CA397802586 | CHRNB1 | c.1296G>T (p.Glu432Asp) c.1080G>T (p.Glu360Asp) c.-97G>T (n.-97G>T) c.933G>T (p.Glu311Asp) |