| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7455442C>A | CA397801610 | CHRNB1 | c.1203C>A (p.Phe401Leu) c.987C>A (p.Phe329Leu) c.866C>A n.2147C>A c.840C>A (p.Phe280Leu) | |
| 17 | g.7455442C>G | CA397801614 | CHRNB1 | c.1203C>G (p.Phe401Leu) c.987C>G (p.Phe329Leu) c.866C>G n.2147C>G c.840C>G (p.Phe280Leu) | |
| 17 | g.7455442C>T | CA497744847 | CHRNB1 | c.1203C>T (p.Phe401=) c.987C>T (p.Phe329=) c.866C>T n.2147C>T c.840C>T (p.Phe280=) | gnomAD v4 |
| 17 | g.7455443C>A | CA397801617 | CHRNB1 | c.1204C>A (p.Pro402Thr) c.988C>A (p.Pro330Thr) c.867C>A n.2148C>A c.841C>A (p.Pro281Thr) | |
| 17 | g.7455443C>G | CA397801619 | CHRNB1 | c.1204C>G (p.Pro402Ala) c.988C>G (p.Pro330Ala) c.867C>G n.2148C>G c.841C>G (p.Pro281Ala) | |
| 17 | g.7455443C>T | CA397801622 | CHRNB1 | c.1204C>T (p.Pro402Ser) c.988C>T (p.Pro330Ser) c.867C>T n.2148C>T c.841C>T (p.Pro281Ser) | gnomAD v4 |
| 17 | g.7455444C>A | CA397801643 | CHRNB1 | c.1205C>A (p.Pro402His) c.989C>A (p.Pro330His) c.868C>A n.2149C>A c.842C>A (p.Pro281His) | |
| 17 | g.7455444C= | CA2245822334 | CHRNB1 | c.1205C= (p.Pro402=) c.989C= (p.Pro330=) c.868C= n.2149C= c.842C= (p.Pro281=) | |
| 17 | g.7455444C>G | CA397801650 | CHRNB1 | c.1205C>G (p.Pro402Arg) c.989C>G (p.Pro330Arg) c.868C>G n.2149C>G c.842C>G (p.Pro281Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7455444C>T | CA397801647 | CHRNB1 | c.1205C>T (p.Pro402Leu) c.989C>T (p.Pro330Leu) c.868C>T n.2149C>T c.842C>T (p.Pro281Leu) | |
| 17 | g.7455445C>A | CA497744849 | CHRNB1 | c.1206C>A (p.Pro402=) c.990C>A (p.Pro330=) c.869C>A n.2150C>A c.843C>A (p.Pro281=) | |
| 17 | g.7455445C>G | CA497744850 | CHRNB1 | c.1206C>G (p.Pro402=) c.990C>G (p.Pro330=) c.869C>G n.2150C>G c.843C>G (p.Pro281=) | |
| 17 | g.7455445C>T | CA497744851 | CHRNB1 | c.1206C>T (p.Pro402=) c.990C>T (p.Pro330=) c.869C>T n.2150C>T c.843C>T (p.Pro281=) | |
| 17 | g.7455446A>C | CA397801654 | CHRNB1 | c.1207A>C (p.Lys403Gln) c.991A>C (p.Lys331Gln) c.870A>C n.2151A>C c.844A>C (p.Lys282Gln) | |
| 17 | g.7455446A>G | CA397801665 | CHRNB1 | c.1207A>G (p.Lys403Glu) c.991A>G (p.Lys331Glu) c.870A>G n.2151A>G c.844A>G (p.Lys282Glu) | gnomAD v4 |
| 17 | g.7455446A>T | CA397801668 | CHRNB1 | c.1207A>T (p.Lys403Ter) c.991A>T (p.Lys331Ter) c.870A>T n.2151A>T c.844A>T (p.Lys282Ter) | |
| 17 | g.7455447A>C | CA397801669 | CHRNB1 | c.1208A>C (p.Lys403Thr) c.992A>C (p.Lys331Thr) c.871A>C n.2152A>C c.845A>C (p.Lys282Thr) | |
| 17 | g.7455447A>G | CA397801671 | CHRNB1 | c.1208A>G (p.Lys403Arg) c.992A>G (p.Lys331Arg) c.871A>G n.2152A>G c.845A>G (p.Lys282Arg) | |
| 17 | g.7455447A>T | CA397801672 | CHRNB1 | c.1208A>T (p.Lys403Ile) c.992A>T (p.Lys331Ile) c.871A>T n.2152A>T c.845A>T (p.Lys282Ile) | |
| 17 | g.7455448A>C | CA397801678 | CHRNB1 | c.1209A>C (p.Lys403Asn) c.993A>C (p.Lys331Asn) c.872A>C n.2153A>C c.846A>C (p.Lys282Asn) | |
| 17 | g.7455448A>G | CA497744852 | CHRNB1 | c.1209A>G (p.Lys403=) c.993A>G (p.Lys331=) c.872A>G n.2153A>G c.846A>G (p.Lys282=) | |
| 17 | g.7455448A>T | CA397801683 | CHRNB1 | c.1209A>T (p.Lys403Asn) c.993A>T (p.Lys331Asn) c.872A>T n.2153A>T c.846A>T (p.Lys282Asn) | |
| 17 | g.7455449C>A | CA397801691 | CHRNB1 | c.1210C>A (p.Pro404Thr) c.994C>A (p.Pro332Thr) c.873C>A n.2154C>A c.847C>A (p.Pro283Thr) | gnomAD v4 |
| 17 | g.7455449C= | CA2245822335 | CHRNB1 | c.1210C= (p.Pro404=) c.994C= (p.Pro332=) c.873C= n.2154C= c.847C= (p.Pro283=) | |
| 17 | g.7455449C>G | CA397801711 | CHRNB1 | c.1210C>G (p.Pro404Ala) c.994C>G (p.Pro332Ala) c.873C>G n.2154C>G c.847C>G (p.Pro283Ala) | gnomAD v4 |
| 17 | g.7455449C>T | CA397801713 | CHRNB1 | c.1210C>T (p.Pro404Ser) c.994C>T (p.Pro332Ser) c.873C>T n.2154C>T c.847C>T (p.Pro283Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7455450C>A | CA397801717 | CHRNB1 | c.1211C>A (p.Pro404His) c.995C>A (p.Pro332His) c.874C>A n.2155C>A c.848C>A (p.Pro283His) | |
| 17 | g.7455450C>G | CA397801723 | CHRNB1 | c.1211C>G (p.Pro404Arg) c.995C>G (p.Pro332Arg) c.874C>G n.2155C>G c.848C>G (p.Pro283Arg) | |
| 17 | g.7455450C>T | CA397801719 | CHRNB1 | c.1211C>T (p.Pro404Leu) c.995C>T (p.Pro332Leu) c.874C>T n.2155C>T c.848C>T (p.Pro283Leu) | |
| 17 | g.7455451C>A | CA497744854 | CHRNB1 | c.1212C>A (p.Pro404=) c.996C>A (p.Pro332=) c.875C>A n.2156C>A c.849C>A (p.Pro283=) | |
| 17 | g.7455451C= | CA2245822336 | CHRNB1 | c.1212C= (p.Pro404=) c.996C= (p.Pro332=) c.875C= n.2156C= c.849C= (p.Pro283=) | |
| 17 | g.7455451C>G | CA497744855 | CHRNB1 | c.1212C>G (p.Pro404=) c.996C>G (p.Pro332=) c.875C>G n.2156C>G c.849C>G (p.Pro283=) | |
| 17 | g.7455451C>T | CA8347994 | CHRNB1 | c.1212C>T (p.Pro404=) c.996C>T (p.Pro332=) c.875C>T n.2156C>T c.849C>T (p.Pro283=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7455452A= | CA2245822337 | CHRNB1 | c.1213A= (p.Asn405=) c.997A= (p.Asn333=) c.876A= n.2157A= c.850A= (p.Asn284=) | |
| 17 | g.7455452A>C | CA397801749 | CHRNB1 | c.1213A>C (p.Asn405His) c.997A>C (p.Asn333His) c.876A>C n.2157A>C c.850A>C (p.Asn284His) | |
| 17 | g.7455452A>G | CA397801729 | CHRNB1 | c.1213A>G (p.Asn405Asp) c.997A>G (p.Asn333Asp) c.876A>G n.2157A>G c.850A>G (p.Asn284Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7455452A>T | CA397801745 | CHRNB1 | c.1213A>T (p.Asn405Tyr) c.997A>T (p.Asn333Tyr) c.876A>T n.2157A>T c.850A>T (p.Asn284Tyr) | dbSNP |
| 17 | g.7455453dup | CA2590159195 | CHRNB1 | c.1214dup (p.Asn405LysfsTer2) c.998dup (p.Asn333LysfsTer2) c.877dup n.2158dup c.851dup (p.Asn284LysfsTer2) | gnomAD v3 gnomAD v4 |
| 17 | g.7455453A>C | CA397801759 | CHRNB1 | c.1214A>C (p.Asn405Thr) c.998A>C (p.Asn333Thr) c.877A>C n.2158A>C c.851A>C (p.Asn284Thr) | |
| 17 | g.7455453A>G | CA397801761 | CHRNB1 | c.1214A>G (p.Asn405Ser) c.998A>G (p.Asn333Ser) c.877A>G n.2158A>G c.851A>G (p.Asn284Ser) | |
| 17 | g.7455453A>T | CA397801768 | CHRNB1 | c.1214A>T (p.Asn405Ile) c.998A>T (p.Asn333Ile) c.877A>T n.2158A>T c.851A>T (p.Asn284Ile) | |
| 17 | g.7455454T>A | CA397801772 | CHRNB1 | c.1215T>A (p.Asn405Lys) c.999T>A (p.Asn333Lys) c.878T>A n.2159T>A c.852T>A (p.Asn284Lys) | |
| 17 | g.7455454T>C | CA8347995 | CHRNB1 | c.1215T>C (p.Asn405=) c.999T>C (p.Asn333=) c.878T>C n.2159T>C c.852T>C (p.Asn284=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7455454T>G | CA397801778 | CHRNB1 | c.1215T>G (p.Asn405Lys) c.999T>G (p.Asn333Lys) c.878T>G n.2159T>G c.852T>G (p.Asn284Lys) | gnomAD v3 gnomAD v4 |
| 17 | g.7455454T= | CA2245822338 | CHRNB1 | c.1215T= (p.Asn405=) c.999T= (p.Asn333=) c.878T= n.2159T= c.852T= (p.Asn284=) | |
| 17 | g.7455455A>C | CA497744857 | CHRNB1 | c.1216A>C (p.Arg406=) c.1000A>C (p.Arg334=) c.879A>C n.2160A>C c.853A>C (p.Arg285=) | |
| 17 | g.7455455A>G | CA397801781 | CHRNB1 | c.1216A>G (p.Arg406Gly) c.1000A>G (p.Arg334Gly) c.879A>G n.2160A>G c.853A>G (p.Arg285Gly) | gnomAD v4 |
| 17 | g.7455455A>T | CA397801783 | CHRNB1 | c.1216A>T (p.Arg406Trp) c.1000A>T (p.Arg334Trp) c.879A>T n.2160A>T c.853A>T (p.Arg285Trp) | |
| 17 | g.7455456G>A | CA397801787 | CHRNB1 | c.1217G>A (p.Arg406Lys) c.1001G>A (p.Arg334Lys) c.880G>A n.2161G>A c.854G>A (p.Arg285Lys) | |
| 17 | g.7455456G>C | CA397801794 | CHRNB1 | c.1217G>C (p.Arg406Thr) c.1001G>C (p.Arg334Thr) c.880G>C n.2161G>C c.854G>C (p.Arg285Thr) |