| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27463009G>A | CA460046628 | CHRNA2 | c.1434C>T (p.Asp478=) c.1389C>T (p.Asp463=) n.290-1255C>T c.1368C>T (p.Asp456=) c.*836C>T (n.*836C>T) c.957C>T (p.Asp319=) c.840C>T (p.Asp280=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463009G>C | CA370807793 | CHRNA2 | c.1434C>G (p.Asp478Glu) c.1389C>G (p.Asp463Glu) n.290-1255C>G c.1368C>G (p.Asp456Glu) c.*836C>G (n.*836C>G) c.957C>G (p.Asp319Glu) c.840C>G (p.Asp280Glu) | |
| 8 | g.27463009G= | CA1772813210 | CHRNA2 | c.1434C= (p.Asp478=) c.1389C= (p.Asp463=) n.290-1255C= c.1368C= (p.Asp456=) c.*836C= (n.*836C=) c.957C= (p.Asp319=) c.840C= (p.Asp280=) | |
| 8 | g.27463009G>T | CA290081 | CHRNA2 | c.1434C>A (p.Asp478Glu) c.1389C>A (p.Asp463Glu) n.290-1255C>A c.1368C>A (p.Asp456Glu) c.*836C>A (n.*836C>A) c.957C>A (p.Asp319Glu) c.840C>A (p.Asp280Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463010T>A | CA370807796 | CHRNA2 | c.1433A>T (p.Asp478Val) c.1388A>T (p.Asp463Val) n.290-1256A>T c.1367A>T (p.Asp456Val) c.*835A>T (n.*835A>T) c.956A>T (p.Asp319Val) c.839A>T (p.Asp280Val) | |
| 8 | g.27463010T>C | CA370807799 | CHRNA2 | c.1433A>G (p.Asp478Gly) c.1388A>G (p.Asp463Gly) n.290-1256A>G c.1367A>G (p.Asp456Gly) c.*835A>G (n.*835A>G) c.956A>G (p.Asp319Gly) c.839A>G (p.Asp280Gly) | |
| 8 | g.27463010T>G | CA370807801 | CHRNA2 | c.1433A>C (p.Asp478Ala) c.1388A>C (p.Asp463Ala) n.290-1256A>C c.1367A>C (p.Asp456Ala) c.*835A>C (n.*835A>C) c.956A>C (p.Asp319Ala) c.839A>C (p.Asp280Ala) | |
| 8 | g.27463011C>A | CA370807803 | CHRNA2 | c.1432G>T (p.Asp478Tyr) c.1387G>T (p.Asp463Tyr) n.290-1257G>T c.1366G>T (p.Asp456Tyr) c.*834G>T (n.*834G>T) c.955G>T (p.Asp319Tyr) c.838G>T (p.Asp280Tyr) | gnomAD v4 |
| 8 | g.27463011C= | CA1772813220 | CHRNA2 | c.1432G= (p.Asp478=) c.1387G= (p.Asp463=) n.290-1257G= c.1366G= (p.Asp456=) c.*834G= (n.*834G=) c.955G= (p.Asp319=) c.838G= (p.Asp280=) | |
| 8 | g.27463011C>G | CA174238341 | CHRNA2 | c.1432G>C (p.Asp478His) c.1387G>C (p.Asp463His) n.290-1257G>C c.1366G>C (p.Asp456His) c.*834G>C (n.*834G>C) c.955G>C (p.Asp319His) c.838G>C (p.Asp280His) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463011C>T | CA4689460 | CHRNA2 | c.1432G>A (p.Asp478Asn) c.1387G>A (p.Asp463Asn) n.290-1257G>A c.1366G>A (p.Asp456Asn) c.*834G>A (n.*834G>A) c.955G>A (p.Asp319Asn) c.838G>A (p.Asp280Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463012G>A | CA4689461 | CHRNA2 | c.1431C>T (p.Ala477=) c.1386C>T (p.Ala462=) n.290-1258C>T c.1365C>T (p.Ala455=) c.*833C>T (n.*833C>T) c.954C>T (p.Ala318=) c.837C>T (p.Ala279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463012G>C | CA10606836 | CHRNA2 | c.1431C>G (p.Ala477=) c.1386C>G (p.Ala462=) n.290-1258C>G c.1365C>G (p.Ala455=) c.*833C>G (n.*833C>G) c.954C>G (p.Ala318=) c.837C>G (p.Ala279=) | ClinVar dbSNP |
| 8 | g.27463012G= | CA1772813231 | CHRNA2 | c.1431C= (p.Ala477=) c.1386C= (p.Ala462=) n.290-1258C= c.1365C= (p.Ala455=) c.*833C= (n.*833C=) c.954C= (p.Ala318=) c.837C= (p.Ala279=) | |
| 8 | g.27463012G>T | CA460046629 | CHRNA2 | c.1431C>A (p.Ala477=) c.1386C>A (p.Ala462=) n.290-1258C>A c.1365C>A (p.Ala455=) c.*833C>A (n.*833C>A) c.954C>A (p.Ala318=) c.837C>A (p.Ala279=) | |
| 8 | g.27463013G>A | CA370807809 | CHRNA2 | c.1430C>T (p.Ala477Val) c.1385C>T (p.Ala462Val) n.290-1259C>T c.1364C>T (p.Ala455Val) c.*832C>T (n.*832C>T) c.953C>T (p.Ala318Val) c.836C>T (p.Ala279Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463013G>C | CA370807813 | CHRNA2 | c.1430C>G (p.Ala477Gly) c.1385C>G (p.Ala462Gly) n.290-1259C>G c.1364C>G (p.Ala455Gly) c.*832C>G (n.*832C>G) c.953C>G (p.Ala318Gly) c.836C>G (p.Ala279Gly) | |
| 8 | g.27463013G= | CA1772813236 | CHRNA2 | c.1430C= (p.Ala477=) c.1385C= (p.Ala462=) n.290-1259C= c.1364C= (p.Ala455=) c.*832C= (n.*832C=) c.953C= (p.Ala318=) c.836C= (p.Ala279=) | |
| 8 | g.27463013G>T | CA370807815 | CHRNA2 | c.1430C>A (p.Ala477Asp) c.1385C>A (p.Ala462Asp) n.290-1259C>A c.1364C>A (p.Ala455Asp) c.*832C>A (n.*832C>A) c.953C>A (p.Ala318Asp) c.836C>A (p.Ala279Asp) | |
| 8 | g.27463014C>A | CA370807817 | CHRNA2 | c.1429G>T (p.Ala477Ser) c.1384G>T (p.Ala462Ser) n.290-1260G>T c.1363G>T (p.Ala455Ser) c.*831G>T (n.*831G>T) c.952G>T (p.Ala318Ser) c.835G>T (p.Ala279Ser) | |
| 8 | g.27463014C>G | CA370807818 | CHRNA2 | c.1429G>C (p.Ala477Pro) c.1384G>C (p.Ala462Pro) n.290-1260G>C c.1363G>C (p.Ala455Pro) c.*831G>C (n.*831G>C) c.952G>C (p.Ala318Pro) c.835G>C (p.Ala279Pro) | |
| 8 | g.27463014C>T | CA370807820 | CHRNA2 | c.1429G>A (p.Ala477Thr) c.1384G>A (p.Ala462Thr) n.290-1260G>A c.1363G>A (p.Ala455Thr) c.*831G>A (n.*831G>A) c.952G>A (p.Ala318Thr) c.835G>A (p.Ala279Thr) | |
| 8 | g.27463015A>C | CA370807822 | CHRNA2 | c.1428T>G (p.Ile476Met) c.1383T>G (p.Ile461Met) n.290-1261T>G c.1362T>G (p.Ile454Met) c.*830T>G (n.*830T>G) c.951T>G (p.Ile317Met) c.834T>G (p.Ile278Met) | |
| 8 | g.27463015A>G | CA460046631 | CHRNA2 | c.1428T>C (p.Ile476=) c.1383T>C (p.Ile461=) n.290-1261T>C c.1362T>C (p.Ile454=) c.*830T>C (n.*830T>C) c.951T>C (p.Ile317=) c.834T>C (p.Ile278=) | |
| 8 | g.27463015A>T | CA460046630 | CHRNA2 | c.1428T>A (p.Ile476=) c.1383T>A (p.Ile461=) n.290-1261T>A c.1362T>A (p.Ile454=) c.*830T>A (n.*830T>A) c.951T>A (p.Ile317=) c.834T>A (p.Ile278=) | |
| 8 | g.27463016A= | CA1772813240 | CHRNA2 | c.1427T= (p.Ile476=) c.1382T= (p.Ile461=) n.290-1262T= c.1361T= (p.Ile454=) c.*829T= (n.*829T=) c.950T= (p.Ile317=) c.833T= (p.Ile278=) | |
| 8 | g.27463016A>C | CA370807825 | CHRNA2 | c.1427T>G (p.Ile476Ser) c.1382T>G (p.Ile461Ser) n.290-1262T>G c.1361T>G (p.Ile454Ser) c.*829T>G (n.*829T>G) c.950T>G (p.Ile317Ser) c.833T>G (p.Ile278Ser) | |
| 8 | g.27463016A>G | CA4689462 | CHRNA2 | c.1427T>C (p.Ile476Thr) c.1382T>C (p.Ile461Thr) n.290-1262T>C c.1361T>C (p.Ile454Thr) c.*829T>C (n.*829T>C) c.950T>C (p.Ile317Thr) c.833T>C (p.Ile278Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463016A>T | CA370807832 | CHRNA2 | c.1427T>A (p.Ile476Asn) c.1382T>A (p.Ile461Asn) n.290-1262T>A c.1361T>A (p.Ile454Asn) c.*829T>A (n.*829T>A) c.950T>A (p.Ile317Asn) c.833T>A (p.Ile278Asn) | |
| 8 | g.27463017T>A | CA370807834 | CHRNA2 | c.1426A>T (p.Ile476Phe) c.1381A>T (p.Ile461Phe) n.290-1263A>T c.1360A>T (p.Ile454Phe) c.*828A>T (n.*828A>T) c.949A>T (p.Ile317Phe) c.832A>T (p.Ile278Phe) | |
| 8 | g.27463017T>C | CA370807837 | CHRNA2 | c.1426A>G (p.Ile476Val) c.1381A>G (p.Ile461Val) n.290-1263A>G c.1360A>G (p.Ile454Val) c.*828A>G (n.*828A>G) c.949A>G (p.Ile317Val) c.832A>G (p.Ile278Val) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463017T>G | CA313470 | CHRNA2 | c.1426A>C (p.Ile476Leu) c.1381A>C (p.Ile461Leu) n.290-1263A>C c.1360A>C (p.Ile454Leu) c.*828A>C (n.*828A>C) c.949A>C (p.Ile317Leu) c.832A>C (p.Ile278Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463017T= | CA1772813248 | CHRNA2 | c.1426A= (p.Ile476=) c.1381A= (p.Ile461=) n.290-1263A= c.1360A= (p.Ile454=) c.*828A= (n.*828A=) c.949A= (p.Ile317=) c.832A= (p.Ile278=) | |
| 8 | g.27463018G>A | CA460046632 | CHRNA2 | c.1425C>T (p.Tyr475=) c.1380C>T (p.Tyr460=) n.290-1264C>T c.1359C>T (p.Tyr453=) c.*827C>T (n.*827C>T) c.948C>T (p.Tyr316=) c.831C>T (p.Tyr277=) | |
| 8 | g.27463018G>C | CA370807839 | CHRNA2 | c.1425C>G (p.Tyr475Ter) c.1380C>G (p.Tyr460Ter) n.290-1264C>G c.1359C>G (p.Tyr453Ter) c.*827C>G (n.*827C>G) c.948C>G (p.Tyr316Ter) c.831C>G (p.Tyr277Ter) | |
| 8 | g.27463018G= | CA1772813252 | CHRNA2 | c.1425C= (p.Tyr475=) c.1380C= (p.Tyr460=) n.290-1264C= c.1359C= (p.Tyr453=) c.*827C= (n.*827C=) c.948C= (p.Tyr316=) c.831C= (p.Tyr277=) | |
| 8 | g.27463018G>T | CA370807841 | CHRNA2 | c.1425C>A (p.Tyr475Ter) c.1380C>A (p.Tyr460Ter) n.290-1264C>A c.1359C>A (p.Tyr453Ter) c.*827C>A (n.*827C>A) c.948C>A (p.Tyr316Ter) c.831C>A (p.Tyr277Ter) | |
| 8 | g.27463019T>A | CA313468 | CHRNA2 | c.1424A>T (p.Tyr475Phe) c.1379A>T (p.Tyr460Phe) n.290-1265A>T c.1358A>T (p.Tyr453Phe) c.*826A>T (n.*826A>T) c.947A>T (p.Tyr316Phe) c.830A>T (p.Tyr277Phe) | dbSNP |
| 8 | g.27463019T>C | CA4689463 | CHRNA2 | c.1424A>G (p.Tyr475Cys) c.1379A>G (p.Tyr460Cys) n.290-1265A>G c.1358A>G (p.Tyr453Cys) c.*826A>G (n.*826A>G) c.947A>G (p.Tyr316Cys) c.830A>G (p.Tyr277Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463019T>G | CA370807844 | CHRNA2 | c.1424A>C (p.Tyr475Ser) c.1379A>C (p.Tyr460Ser) n.290-1265A>C c.1358A>C (p.Tyr453Ser) c.*826A>C (n.*826A>C) c.947A>C (p.Tyr316Ser) c.830A>C (p.Tyr277Ser) | |
| 8 | g.27463019T= | CA1772813259 | CHRNA2 | c.1424A= (p.Tyr475=) c.1379A= (p.Tyr460=) n.290-1265A= c.1358A= (p.Tyr453=) c.*826A= (n.*826A=) c.947A= (p.Tyr316=) c.830A= (p.Tyr277=) | |
| 8 | g.27463019_27463022dup | CA580667915 | CHRNA2 | c.1421_1424dup (p.Tyr475Ter) c.1376_1379dup (p.Tyr460Ter) n.290-1268_290-1265dup c.1355_1358dup (p.Tyr453Ter) c.*823_*826dup (n.*823_*826dup) c.944_947dup (p.Tyr316Ter) c.827_830dup (p.Tyr277Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463020A= | CA1772813262 | CHRNA2 | c.1423T= (p.Tyr475=) c.1378T= (p.Tyr460=) n.290-1266T= c.1357T= (p.Tyr453=) c.*825T= (n.*825T=) c.946T= (p.Tyr316=) c.829T= (p.Tyr277=) | |
| 8 | g.27463020A>C | CA174238394 | CHRNA2 | c.1423T>G (p.Tyr475Asp) c.1378T>G (p.Tyr460Asp) n.290-1266T>G c.1357T>G (p.Tyr453Asp) c.*825T>G (n.*825T>G) c.946T>G (p.Tyr316Asp) c.829T>G (p.Tyr277Asp) | dbSNP |
| 8 | g.27463020A>G | CA370807846 | CHRNA2 | c.1423T>C (p.Tyr475His) c.1378T>C (p.Tyr460His) n.290-1266T>C c.1357T>C (p.Tyr453His) c.*825T>C (n.*825T>C) c.946T>C (p.Tyr316His) c.829T>C (p.Tyr277His) | |
| 8 | g.27463020A>T | CA370807849 | CHRNA2 | c.1423T>A (p.Tyr475Asn) c.1378T>A (p.Tyr460Asn) n.290-1266T>A c.1357T>A (p.Tyr453Asn) c.*825T>A (n.*825T>A) c.946T>A (p.Tyr316Asn) c.829T>A (p.Tyr277Asn) | |
| 8 | g.27463021G>A | CA460046633 | CHRNA2 | c.1422C>T (p.His474=) c.1377C>T (p.His459=) n.290-1267C>T c.1356C>T (p.His452=) c.*824C>T (n.*824C>T) c.945C>T (p.His315=) c.828C>T (p.His276=) | gnomAD v4 |
| 8 | g.27463021G>C | CA370807855 | CHRNA2 | c.1422C>G (p.His474Gln) c.1377C>G (p.His459Gln) n.290-1267C>G c.1356C>G (p.His452Gln) c.*824C>G (n.*824C>G) c.945C>G (p.His315Gln) c.828C>G (p.His276Gln) | |
| 8 | g.27463021G>T | CA370807852 | CHRNA2 | c.1422C>A (p.His474Gln) c.1377C>A (p.His459Gln) n.290-1267C>A c.1356C>A (p.His452Gln) c.*824C>A (n.*824C>A) c.945C>A (p.His315Gln) c.828C>A (p.His276Gln) | |
| 8 | g.27463022T>A | CA370807857 | CHRNA2 | c.1421A>T (p.His474Leu) c.1376A>T (p.His459Leu) n.290-1268A>T c.1355A>T (p.His452Leu) c.*823A>T (n.*823A>T) c.944A>T (p.His315Leu) c.827A>T (p.His276Leu) |