Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.7455873C>A | CA397802590 | CHRNB1 | c.1297C>A (p.Leu433Ile) c.1081C>A (p.Leu361Ile) c.-96C>A (n.-96C>A) c.934C>A (p.Leu312Ile) | |
17 | g.7455873C= | CA2245822579 | CHRNB1 | c.1297C= (p.Leu433=) c.1081C= (p.Leu361=) c.-96C= (n.-96C=) c.934C= (p.Leu312=) | |
17 | g.7455873C>G | CA397802592 | CHRNB1 | c.1297C>G (p.Leu433Val) c.1081C>G (p.Leu361Val) c.-96C>G (n.-96C>G) c.934C>G (p.Leu312Val) | gnomAD v4 |
17 | g.7455873C>T | CA8348030 | CHRNB1 | c.1297C>T (p.Leu433=) c.1081C>T (p.Leu361=) c.-96C>T (n.-96C>T) c.934C>T (p.Leu312=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7455874T>A | CA397802597 | CHRNB1 | c.1298T>A (p.Leu433Gln) c.1082T>A (p.Leu361Gln) c.-95T>A (n.-95T>A) c.935T>A (p.Leu312Gln) | |
17 | g.7455874T>C | CA397802598 | CHRNB1 | c.1298T>C (p.Leu433Pro) c.1082T>C (p.Leu361Pro) c.-95T>C (n.-95T>C) c.935T>C (p.Leu312Pro) | |
17 | g.7455874T>G | CA397802600 | CHRNB1 | c.1298T>G (p.Leu433Arg) c.1082T>G (p.Leu361Arg) c.-95T>G (n.-95T>G) c.935T>G (p.Leu312Arg) | |
17 | g.7455875A>C | CA497745000 | CHRNB1 | c.1299A>C (p.Leu433=) c.1083A>C (p.Leu361=) c.-94A>C (n.-94A>C) c.936A>C (p.Leu312=) | |
17 | g.7455875A>G | CA497745001 | CHRNB1 | c.1299A>G (p.Leu433=) c.1083A>G (p.Leu361=) c.-94A>G (n.-94A>G) c.936A>G (p.Leu312=) | gnomAD v4 |
17 | g.7455875A>T | CA497745002 | CHRNB1 | c.1299A>T (p.Leu433=) c.1083A>T (p.Leu361=) c.-94A>T (n.-94A>T) c.936A>T (p.Leu312=) | |
17 | g.7455876C>A | CA497745003 | CHRNB1 | c.1300C>A (p.Arg434=) c.1084C>A (p.Arg362=) c.-93C>A (n.-93C>A) c.937C>A (p.Arg313=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.7455876C= | CA2245822580 | CHRNB1 | c.1300C= (p.Arg434=) c.1084C= (p.Arg362=) c.-93C= (n.-93C=) c.937C= (p.Arg313=) | |
17 | g.7455876C>G | CA397802603 | CHRNB1 | c.1300C>G (p.Arg434Gly) c.1084C>G (p.Arg362Gly) c.-93C>G (n.-93C>G) c.937C>G (p.Arg313Gly) | |
17 | g.7455876C>T | CA397802606 | CHRNB1 | c.1300C>T (p.Arg434Trp) c.1084C>T (p.Arg362Trp) c.-93C>T (n.-93C>T) c.937C>T (p.Arg313Trp) | dbSNP |
17 | g.7455877G>A | CA8348031 | CHRNB1 | c.1301G>A (p.Arg434Gln) c.1085G>A (p.Arg362Gln) c.-92G>A (n.-92G>A) c.938G>A (p.Arg313Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7455877G>C | CA397802611 | CHRNB1 | c.1301G>C (p.Arg434Pro) c.1085G>C (p.Arg362Pro) c.-92G>C (n.-92G>C) c.938G>C (p.Arg313Pro) | gnomAD v4 |
17 | g.7455877G= | CA2245822581 | CHRNB1 | c.1301G= (p.Arg434=) c.1085G= (p.Arg362=) c.-92G= (n.-92G=) c.938G= (p.Arg313=) | |
17 | g.7455877G>T | CA397802608 | CHRNB1 | c.1301G>T (p.Arg434Leu) c.1085G>T (p.Arg362Leu) c.-92G>T (n.-92G>T) c.938G>T (p.Arg313Leu) | |
17 | g.7455878G>A | CA497745004 | CHRNB1 | c.1302G>A (p.Arg434=) c.1086G>A (p.Arg362=) c.-91G>A (n.-91G>A) c.939G>A (p.Arg313=) | |
17 | g.7455878G>C | CA497745005 | CHRNB1 | c.1302G>C (p.Arg434=) c.1086G>C (p.Arg362=) c.-91G>C (n.-91G>C) c.939G>C (p.Arg313=) | |
17 | g.7455878G>T | CA497745006 | CHRNB1 | c.1302G>T (p.Arg434=) c.1086G>T (p.Arg362=) c.-91G>T (n.-91G>T) c.939G>T (p.Arg313=) | |
17 | g.7455879G>A | CA397802616 | CHRNB1 | c.1303G>A (p.Glu435Lys) c.1087G>A (p.Glu363Lys) c.-90G>A (n.-90G>A) c.940G>A (p.Glu314Lys) |