UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27463130C>A | CA370808915 | CHRNA2 | c.1313G>T (p.Ser438Ile) c.1268G>T (p.Ser423Ile) n.290-1376G>T c.1247G>T (p.Ser416Ile) c.*715G>T (n.*715G>T) c.836G>T (p.Ser279Ile) c.719G>T (p.Ser240Ile) | |
| 8 | g.27463130C>G | CA370808916 | CHRNA2 | c.1313G>C (p.Ser438Thr) c.1268G>C (p.Ser423Thr) n.290-1376G>C c.1247G>C (p.Ser416Thr) c.*715G>C (n.*715G>C) c.836G>C (p.Ser279Thr) c.719G>C (p.Ser240Thr) | |
| 8 | g.27463130C>T | CA370808917 | CHRNA2 | c.1313G>A (p.Ser438Asn) c.1268G>A (p.Ser423Asn) n.290-1376G>A c.1247G>A (p.Ser416Asn) c.*715G>A (n.*715G>A) c.836G>A (p.Ser279Asn) c.719G>A (p.Ser240Asn) | |
| 8 | g.27463131T>A | CA370808918 | CHRNA2 | c.1312A>T (p.Ser438Cys) c.1267A>T (p.Ser423Cys) n.290-1377A>T c.1246A>T (p.Ser416Cys) c.*714A>T (n.*714A>T) c.835A>T (p.Ser279Cys) c.718A>T (p.Ser240Cys) | |
| 8 | g.27463131T>C | CA370808919 | CHRNA2 | c.1312A>G (p.Ser438Gly) c.1267A>G (p.Ser423Gly) n.290-1377A>G c.1246A>G (p.Ser416Gly) c.*714A>G (n.*714A>G) c.835A>G (p.Ser279Gly) c.718A>G (p.Ser240Gly) | |
| 8 | g.27463131T>G | CA370808920 | CHRNA2 | c.1312A>C (p.Ser438Arg) c.1267A>C (p.Ser423Arg) n.290-1377A>C c.1246A>C (p.Ser416Arg) c.*714A>C (n.*714A>C) c.835A>C (p.Ser279Arg) c.718A>C (p.Ser240Arg) | |
| 8 | g.27463132del | CA2686678218 | CHRNA2 | c.1311del (p.Cys437Ter) c.1266del (p.Cys422Ter) n.290-1378del c.1245del (p.Cys415Ter) c.*713del (n.*713del) c.834del (p.Cys278Ter) c.717del (p.Cys239Ter) | gnomAD v4 |
| 8 | g.27463132G>A | CA460186052 | CHRNA2 | c.1311C>T (p.Cys437=) c.1266C>T (p.Cys422=) n.290-1378C>T c.1245C>T (p.Cys415=) c.*713C>T (n.*713C>T) c.834C>T (p.Cys278=) c.717C>T (p.Cys239=) | gnomAD v4 |
| 8 | g.27463132G>C | CA370808921 | CHRNA2 | c.1311C>G (p.Cys437Trp) c.1266C>G (p.Cys422Trp) n.290-1378C>G c.1245C>G (p.Cys415Trp) c.*713C>G (n.*713C>G) c.834C>G (p.Cys278Trp) c.717C>G (p.Cys239Trp) | |
| 8 | g.27463132G>T | CA370808922 | CHRNA2 | c.1311C>A (p.Cys437Ter) c.1266C>A (p.Cys422Ter) n.290-1378C>A c.1245C>A (p.Cys415Ter) c.*713C>A (n.*713C>A) c.834C>A (p.Cys278Ter) c.717C>A (p.Cys239Ter) | |
| 8 | g.27463132_27463144dup | CA2499219211 | CHRNA2 | c.1299_1311dup (p.Ser438GlyfsTer19) c.1254_1266dup (p.Ser423GlyfsTer19) n.290-1390_290-1378dup c.1233_1245dup (p.Ser416GlyfsTer19) c.*701_*713dup (n.*701_*713dup) c.822_834dup (p.Ser279GlyfsTer19) c.705_717dup (p.Ser240GlyfsTer19) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463133C>A | CA370808923 | CHRNA2 | c.1310G>T (p.Cys437Phe) c.1265G>T (p.Cys422Phe) n.290-1379G>T c.1244G>T (p.Cys415Phe) c.*712G>T (n.*712G>T) c.833G>T (p.Cys278Phe) c.716G>T (p.Cys239Phe) | |
| 8 | g.27463133C>G | CA370808924 | CHRNA2 | c.1310G>C (p.Cys437Ser) c.1265G>C (p.Cys422Ser) n.290-1379G>C c.1244G>C (p.Cys415Ser) c.*712G>C (n.*712G>C) c.833G>C (p.Cys278Ser) c.716G>C (p.Cys239Ser) | |
| 8 | g.27463133C>T | CA370808925 | CHRNA2 | c.1310G>A (p.Cys437Tyr) c.1265G>A (p.Cys422Tyr) n.290-1379G>A c.1244G>A (p.Cys415Tyr) c.*712G>A (n.*712G>A) c.833G>A (p.Cys278Tyr) c.716G>A (p.Cys239Tyr) | gnomAD v4 |
| 8 | g.27463134A>C | CA370808927 | CHRNA2 | c.1309T>G (p.Cys437Gly) c.1264T>G (p.Cys422Gly) n.290-1380T>G c.1243T>G (p.Cys415Gly) c.*711T>G (n.*711T>G) c.832T>G (p.Cys278Gly) c.715T>G (p.Cys239Gly) | |
| 8 | g.27463134A>G | CA370808928 | CHRNA2 | c.1309T>C (p.Cys437Arg) c.1264T>C (p.Cys422Arg) n.290-1380T>C c.1243T>C (p.Cys415Arg) c.*711T>C (n.*711T>C) c.832T>C (p.Cys278Arg) c.715T>C (p.Cys239Arg) | |
| 8 | g.27463134A>T | CA370808926 | CHRNA2 | c.1309T>A (p.Cys437Ser) c.1264T>A (p.Cys422Ser) n.290-1380T>A c.1243T>A (p.Cys415Ser) c.*711T>A (n.*711T>A) c.832T>A (p.Cys278Ser) c.715T>A (p.Cys239Ser) | |
| 8 | g.27463135G>A | CA460186053 | CHRNA2 | c.1308C>T (p.Leu436=) c.1263C>T (p.Leu421=) n.290-1381C>T c.1242C>T (p.Leu414=) c.*710C>T (n.*710C>T) c.831C>T (p.Leu277=) c.714C>T (p.Leu238=) | |
| 8 | g.27463135G>C | CA460186054 | CHRNA2 | c.1308C>G (p.Leu436=) c.1263C>G (p.Leu421=) n.290-1381C>G c.1242C>G (p.Leu414=) c.*710C>G (n.*710C>G) c.831C>G (p.Leu277=) c.714C>G (p.Leu238=) | |
| 8 | g.27463135G>T | CA460186055 | CHRNA2 | c.1308C>A (p.Leu436=) c.1263C>A (p.Leu421=) n.290-1381C>A c.1242C>A (p.Leu414=) c.*710C>A (n.*710C>A) c.831C>A (p.Leu277=) c.714C>A (p.Leu238=) | |
| 8 | g.27463136A>C | CA370808929 | CHRNA2 | c.1307T>G (p.Leu436Arg) c.1262T>G (p.Leu421Arg) n.290-1382T>G c.1241T>G (p.Leu414Arg) c.*709T>G (n.*709T>G) c.830T>G (p.Leu277Arg) c.713T>G (p.Leu238Arg) | |
| 8 | g.27463136A>G | CA370808930 | CHRNA2 | c.1307T>C (p.Leu436Pro) c.1262T>C (p.Leu421Pro) n.290-1382T>C c.1241T>C (p.Leu414Pro) c.*709T>C (n.*709T>C) c.830T>C (p.Leu277Pro) c.713T>C (p.Leu238Pro) | gnomAD v4 |
| 8 | g.27463136A>T | CA370808931 | CHRNA2 | c.1307T>A (p.Leu436His) c.1262T>A (p.Leu421His) n.290-1382T>A c.1241T>A (p.Leu414His) c.*709T>A (n.*709T>A) c.830T>A (p.Leu277His) c.713T>A (p.Leu238His) | |
| 8 | g.27463137G>A | CA370808932 | CHRNA2 | c.1306C>T (p.Leu436Phe) c.1261C>T (p.Leu421Phe) n.290-1383C>T c.1240C>T (p.Leu414Phe) c.*708C>T (n.*708C>T) c.829C>T (p.Leu277Phe) c.712C>T (p.Leu238Phe) | ClinVar gnomAD v4 |
| 8 | g.27463137G>C | CA370808933 | CHRNA2 | c.1306C>G (p.Leu436Val) c.1261C>G (p.Leu421Val) n.290-1383C>G c.1240C>G (p.Leu414Val) c.*708C>G (n.*708C>G) c.829C>G (p.Leu277Val) c.712C>G (p.Leu238Val) | |
| 8 | g.27463137G>T | CA370808934 | CHRNA2 | c.1306C>A (p.Leu436Ile) c.1261C>A (p.Leu421Ile) n.290-1383C>A c.1240C>A (p.Leu414Ile) c.*708C>A (n.*708C>A) c.829C>A (p.Leu277Ile) c.712C>A (p.Leu238Ile) | gnomAD v4 |
| 8 | g.27463138G>A | CA460186056 | CHRNA2 | c.1305C>T (p.Thr435=) c.1260C>T (p.Thr420=) n.290-1384C>T c.1239C>T (p.Thr413=) c.*707C>T (n.*707C>T) c.828C>T (p.Thr276=) c.711C>T (p.Thr237=) | gnomAD v4 |
| 8 | g.27463138G>C | CA460186057 | CHRNA2 | c.1305C>G (p.Thr435=) c.1260C>G (p.Thr420=) n.290-1384C>G c.1239C>G (p.Thr413=) c.*707C>G (n.*707C>G) c.828C>G (p.Thr276=) c.711C>G (p.Thr237=) | |
| 8 | g.27463138G>T | CA460186058 | CHRNA2 | c.1305C>A (p.Thr435=) c.1260C>A (p.Thr420=) n.290-1384C>A c.1239C>A (p.Thr413=) c.*707C>A (n.*707C>A) c.828C>A (p.Thr276=) c.711C>A (p.Thr237=) | |
| 8 | g.27463139G>A | CA370808935 | CHRNA2 | c.1304C>T (p.Thr435Ile) c.1259C>T (p.Thr420Ile) n.290-1385C>T c.1238C>T (p.Thr413Ile) c.*706C>T (n.*706C>T) c.827C>T (p.Thr276Ile) c.710C>T (p.Thr237Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463139G>C | CA370808936 | CHRNA2 | c.1304C>G (p.Thr435Ser) c.1259C>G (p.Thr420Ser) n.290-1385C>G c.1238C>G (p.Thr413Ser) c.*706C>G (n.*706C>G) c.827C>G (p.Thr276Ser) c.710C>G (p.Thr237Ser) | |
| 8 | g.27463139G= | CA1772813469 | CHRNA2 | c.1304C= (p.Thr435=) c.1259C= (p.Thr420=) n.290-1385C= c.1238C= (p.Thr413=) c.*706C= (n.*706C=) c.827C= (p.Thr276=) c.710C= (p.Thr237=) | |
| 8 | g.27463139G>T | CA370808937 | CHRNA2 | c.1304C>A (p.Thr435Asn) c.1259C>A (p.Thr420Asn) n.290-1385C>A c.1238C>A (p.Thr413Asn) c.*706C>A (n.*706C>A) c.827C>A (p.Thr276Asn) c.710C>A (p.Thr237Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463140T>A | CA370808938 | CHRNA2 | c.1303A>T (p.Thr435Ser) c.1258A>T (p.Thr420Ser) n.290-1386A>T c.1237A>T (p.Thr413Ser) c.*705A>T (n.*705A>T) c.826A>T (p.Thr276Ser) c.709A>T (p.Thr237Ser) | |
| 8 | g.27463140T>C | CA174241222 | CHRNA2 | c.1303A>G (p.Thr435Ala) c.1258A>G (p.Thr420Ala) n.290-1386A>G c.1237A>G (p.Thr413Ala) c.*705A>G (n.*705A>G) c.826A>G (p.Thr276Ala) c.709A>G (p.Thr237Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463140T>G | CA370808939 | CHRNA2 | c.1303A>C (p.Thr435Pro) c.1258A>C (p.Thr420Pro) n.290-1386A>C c.1237A>C (p.Thr413Pro) c.*705A>C (n.*705A>C) c.826A>C (p.Thr276Pro) c.709A>C (p.Thr237Pro) | dbSNP |
| 8 | g.27463140T= | CA1772813472 | CHRNA2 | c.1303A= (p.Thr435=) c.1258A= (p.Thr420=) n.290-1386A= c.1237A= (p.Thr413=) c.*705A= (n.*705A=) c.826A= (p.Thr276=) c.709A= (p.Thr237=) | |
| 8 | g.27463141G>A | CA4689482 | CHRNA2 | c.1302C>T (p.Gly434=) c.1257C>T (p.Gly419=) n.290-1387C>T c.1236C>T (p.Gly412=) c.*704C>T (n.*704C>T) c.825C>T (p.Gly275=) c.708C>T (p.Gly236=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463141G>C | CA460186060 | CHRNA2 | c.1302C>G (p.Gly434=) c.1257C>G (p.Gly419=) n.290-1387C>G c.1236C>G (p.Gly412=) c.*704C>G (n.*704C>G) c.825C>G (p.Gly275=) c.708C>G (p.Gly236=) | |
| 8 | g.27463141G= | CA1772813478 | CHRNA2 | c.1302C= (p.Gly434=) c.1257C= (p.Gly419=) n.290-1387C= c.1236C= (p.Gly412=) c.*704C= (n.*704C=) c.825C= (p.Gly275=) c.708C= (p.Gly236=) | |
| 8 | g.27463141G>T | CA460186061 | CHRNA2 | c.1302C>A (p.Gly434=) c.1257C>A (p.Gly419=) n.290-1387C>A c.1236C>A (p.Gly412=) c.*704C>A (n.*704C>A) c.825C>A (p.Gly275=) c.708C>A (p.Gly236=) | dbSNP |
| 8 | g.27463142C>A | CA370808940 | CHRNA2 | c.1301G>T (p.Gly434Val) c.1256G>T (p.Gly419Val) n.290-1388G>T c.1235G>T (p.Gly412Val) c.*703G>T (n.*703G>T) c.824G>T (p.Gly275Val) c.707G>T (p.Gly236Val) | gnomAD v4 |
| 8 | g.27463142C= | CA1772813484 | CHRNA2 | c.1301G= (p.Gly434=) c.1256G= (p.Gly419=) n.290-1388G= c.1235G= (p.Gly412=) c.*703G= (n.*703G=) c.824G= (p.Gly275=) c.707G= (p.Gly236=) | |
| 8 | g.27463142C>G | CA370808941 | CHRNA2 | c.1301G>C (p.Gly434Ala) c.1256G>C (p.Gly419Ala) n.290-1388G>C c.1235G>C (p.Gly412Ala) c.*703G>C (n.*703G>C) c.824G>C (p.Gly275Ala) c.707G>C (p.Gly236Ala) | |
| 8 | g.27463142C>T | CA4689483 | CHRNA2 | c.1301G>A (p.Gly434Asp) c.1256G>A (p.Gly419Asp) n.290-1388G>A c.1235G>A (p.Gly412Asp) c.*703G>A (n.*703G>A) c.824G>A (p.Gly275Asp) c.707G>A (p.Gly236Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463143C>A | CA370808942 | CHRNA2 | c.1300G>T (p.Gly434Cys) c.1255G>T (p.Gly419Cys) n.290-1389G>T c.1234G>T (p.Gly412Cys) c.*702G>T (n.*702G>T) c.823G>T (p.Gly275Cys) c.706G>T (p.Gly236Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463143C= | CA1772813488 | CHRNA2 | c.1300G= (p.Gly434=) c.1255G= (p.Gly419=) n.290-1389G= c.1234G= (p.Gly412=) c.*702G= (n.*702G=) c.823G= (p.Gly275=) c.706G= (p.Gly236=) | |
| 8 | g.27463143C>G | CA370808943 | CHRNA2 | c.1300G>C (p.Gly434Arg) c.1255G>C (p.Gly419Arg) n.290-1389G>C c.1234G>C (p.Gly412Arg) c.*702G>C (n.*702G>C) c.823G>C (p.Gly275Arg) c.706G>C (p.Gly236Arg) | |
| 8 | g.27463143C>T | CA370808944 | CHRNA2 | c.1300G>A (p.Gly434Ser) c.1255G>A (p.Gly419Ser) n.290-1389G>A c.1234G>A (p.Gly412Ser) c.*702G>A (n.*702G>A) c.823G>A (p.Gly275Ser) c.706G>A (p.Gly236Ser) | |
| 8 | g.27463152_27463153insTGCCACAGAGGG | CA1772813487 | CHRNA2 | c.1300_1301insCACCCTCTGTGG (p.Val433_Gly434insAlaProSerVal) c.1255_1256insCACCCTCTGTGG (p.Val418_Gly419insAlaProSerVal) n.290-1389_290-1388insCACCCTCTGTGG c.1234_1235insCACCCTCTGTGG (p.Val411_Gly412insAlaProSerVal) c.*702_*703insCACCCTCTGTGG (n.*702_*703insCACCCTCTGTGG) c.823_824insCACCCTCTGTGG (p.Val274_Gly275insAlaProSerVal) c.706_707insCACCCTCTGTGG (p.Val235_Gly236insAlaProSerVal) | dbSNP |
| 8 | g.27463144C>A | CA460186062 | CHRNA2 | c.1299G>T (p.Val433=) c.1254G>T (p.Val418=) n.290-1390G>T c.1233G>T (p.Val411=) c.*701G>T (n.*701G>T) c.822G>T (p.Val274=) c.705G>T (p.Val235=) | |
| 8 | g.27463144C= | CA1772813490 | CHRNA2 | c.1299G= (p.Val433=) c.1254G= (p.Val418=) n.290-1390G= c.1233G= (p.Val411=) c.*701G= (n.*701G=) c.822G= (p.Val274=) c.705G= (p.Val235=) | |
| 8 | g.27463144C>G | CA460186063 | CHRNA2 | c.1299G>C (p.Val433=) c.1254G>C (p.Val418=) n.290-1390G>C c.1233G>C (p.Val411=) c.*701G>C (n.*701G>C) c.822G>C (p.Val274=) c.705G>C (p.Val235=) | gnomAD v4 |
| 8 | g.27463144C>T | CA460186064 | CHRNA2 | c.1299G>A (p.Val433=) c.1254G>A (p.Val418=) n.290-1390G>A c.1233G>A (p.Val411=) c.*701G>A (n.*701G>A) c.822G>A (p.Val274=) c.705G>A (p.Val235=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463145A= | CA1772813494 | CHRNA2 | c.1298T= (p.Val433=) c.1253T= (p.Val418=) n.290-1391T= c.1232T= (p.Val411=) c.*700T= (n.*700T=) c.821T= (p.Val274=) c.704T= (p.Val235=) | |
| 8 | g.27463145A>C | CA370808945 | CHRNA2 | c.1298T>G (p.Val433Gly) c.1253T>G (p.Val418Gly) n.290-1391T>G c.1232T>G (p.Val411Gly) c.*700T>G (n.*700T>G) c.821T>G (p.Val274Gly) c.704T>G (p.Val235Gly) | |
| 8 | g.27463145A>G | CA370808946 | CHRNA2 | c.1298T>C (p.Val433Ala) c.1253T>C (p.Val418Ala) n.290-1391T>C c.1232T>C (p.Val411Ala) c.*700T>C (n.*700T>C) c.821T>C (p.Val274Ala) c.704T>C (p.Val235Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463145A>T | CA370808947 | CHRNA2 | c.1298T>A (p.Val433Glu) c.1253T>A (p.Val418Glu) n.290-1391T>A c.1232T>A (p.Val411Glu) c.*700T>A (n.*700T>A) c.821T>A (p.Val274Glu) c.704T>A (p.Val235Glu) | |
| 8 | g.27463146C>A | CA370808948 | CHRNA2 | c.1297G>T (p.Val433Leu) c.1252G>T (p.Val418Leu) n.290-1392G>T c.1231G>T (p.Val411Leu) c.*699G>T (n.*699G>T) c.820G>T (p.Val274Leu) c.703G>T (p.Val235Leu) | gnomAD v4 |
| 8 | g.27463146C>G | CA370808949 | CHRNA2 | c.1297G>C (p.Val433Leu) c.1252G>C (p.Val418Leu) n.290-1392G>C c.1231G>C (p.Val411Leu) c.*699G>C (n.*699G>C) c.820G>C (p.Val274Leu) c.703G>C (p.Val235Leu) | |
| 8 | g.27463146C>T | CA370808950 | CHRNA2 | c.1297G>A (p.Val433Met) c.1252G>A (p.Val418Met) n.290-1392G>A c.1231G>A (p.Val411Met) c.*699G>A (n.*699G>A) c.820G>A (p.Val274Met) c.703G>A (p.Val235Met) | |
| 8 | g.27463147A>C | CA460186066 | CHRNA2 | c.1296T>G (p.Ser432=) c.1251T>G (p.Ser417=) n.290-1393T>G c.1230T>G (p.Ser410=) c.*698T>G (n.*698T>G) c.819T>G (p.Ser273=) c.702T>G (p.Ser234=) | |
| 8 | g.27463147A>G | CA460186067 | CHRNA2 | c.1296T>C (p.Ser432=) c.1251T>C (p.Ser417=) n.290-1393T>C c.1230T>C (p.Ser410=) c.*698T>C (n.*698T>C) c.819T>C (p.Ser273=) c.702T>C (p.Ser234=) | |
| 8 | g.27463147A>T | CA460186068 | CHRNA2 | c.1296T>A (p.Ser432=) c.1251T>A (p.Ser417=) n.290-1393T>A c.1230T>A (p.Ser410=) c.*698T>A (n.*698T>A) c.819T>A (p.Ser273=) c.702T>A (p.Ser234=) | |
| 8 | g.27463149_27463150del | CA2686678219 | CHRNA2 | c.1295_1296del (p.Ser432CysfsTer20) c.1250_1251del (p.Ser417CysfsTer20) n.290-1394_290-1393del c.1229_1230del (p.Ser410CysfsTer20) c.*697_*698del (n.*697_*698del) c.818_819del (p.Ser273CysfsTer20) c.701_702del (p.Ser234CysfsTer20) | gnomAD v4 |
| 8 | g.27463148G>A | CA370808952 | CHRNA2 | c.1295C>T (p.Ser432Phe) c.1250C>T (p.Ser417Phe) n.290-1394C>T c.1229C>T (p.Ser410Phe) c.*697C>T (n.*697C>T) c.818C>T (p.Ser273Phe) c.701C>T (p.Ser234Phe) | |
| 8 | g.27463148G>C | CA370808953 | CHRNA2 | c.1295C>G (p.Ser432Cys) c.1250C>G (p.Ser417Cys) n.290-1394C>G c.1229C>G (p.Ser410Cys) c.*697C>G (n.*697C>G) c.818C>G (p.Ser273Cys) c.701C>G (p.Ser234Cys) | |
| 8 | g.27463148G>T | CA370808951 | CHRNA2 | c.1295C>A (p.Ser432Tyr) c.1250C>A (p.Ser417Tyr) n.290-1394C>A c.1229C>A (p.Ser410Tyr) c.*697C>A (n.*697C>A) c.818C>A (p.Ser273Tyr) c.701C>A (p.Ser234Tyr) | |
| 8 | g.27463149A>C | CA370808956 | CHRNA2 | c.1294T>G (p.Ser432Ala) c.1249T>G (p.Ser417Ala) n.290-1395T>G c.1228T>G (p.Ser410Ala) c.*696T>G (n.*696T>G) c.817T>G (p.Ser273Ala) c.700T>G (p.Ser234Ala) | ClinVar dbSNP |
| 8 | g.27463149A>G | CA370808954 | CHRNA2 | c.1294T>C (p.Ser432Pro) c.1249T>C (p.Ser417Pro) n.290-1395T>C c.1228T>C (p.Ser410Pro) c.*696T>C (n.*696T>C) c.817T>C (p.Ser273Pro) c.700T>C (p.Ser234Pro) | gnomAD v4 |
| 8 | g.27463149A>T | CA370808955 | CHRNA2 | c.1294T>A (p.Ser432Thr) c.1249T>A (p.Ser417Thr) n.290-1395T>A c.1228T>A (p.Ser410Thr) c.*696T>A (n.*696T>A) c.817T>A (p.Ser273Thr) c.700T>A (p.Ser234Thr) | |
| 8 | g.27463149_27463150delinsAG | CA1772813498 | CHRNA2 | c.1293_1294delinsCT (p.Pro431=) c.1248_1249delinsCT (p.Pro416=) n.290-1396_290-1395delinsCT c.1227_1228delinsCT (p.Pro409=) c.*695_*696delinsCT (n.*695_*696delinsCT) c.816_817delinsCT (p.Pro272=) c.699_700delinsCT (p.Pro233=) | |
| 8 | g.27463150G>A | CA460186070 | CHRNA2 | c.1293C>T (p.Pro431=) c.1248C>T (p.Pro416=) n.290-1396C>T c.1227C>T (p.Pro409=) c.*695C>T (n.*695C>T) c.816C>T (p.Pro272=) c.699C>T (p.Pro233=) | |
| 8 | g.27463150G>C | CA460186071 | CHRNA2 | c.1293C>G (p.Pro431=) c.1248C>G (p.Pro416=) n.290-1396C>G c.1227C>G (p.Pro409=) c.*695C>G (n.*695C>G) c.816C>G (p.Pro272=) c.699C>G (p.Pro233=) | |
| 8 | g.27463150G>T | CA460186073 | CHRNA2 | c.1293C>A (p.Pro431=) c.1248C>A (p.Pro416=) n.290-1396C>A c.1227C>A (p.Pro409=) c.*695C>A (n.*695C>A) c.816C>A (p.Pro272=) c.699C>A (p.Pro233=) | gnomAD v4 |
| 8 | g.27463154dup | CA2499219212 | CHRNA2 | c.1293dup (p.Ser432LeufsTer21) c.1248dup (p.Ser417LeufsTer21) n.290-1396dup c.1227dup (p.Ser410LeufsTer21) c.*695dup (n.*695dup) c.816dup (p.Ser273LeufsTer21) c.699dup (p.Ser234LeufsTer21) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463154del | CA4689484 | CHRNA2 | c.1293del (p.Ser432LeufsTer?) c.1248del (p.Ser417LeufsTer?) n.290-1396del c.1227del (p.Ser410LeufsTer?) c.*695del (n.*695del) c.816del (p.Ser273LeufsTer?) c.699del (p.Ser234LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463151G>A | CA4689485 | CHRNA2 | c.1292C>T (p.Pro431Leu) c.1247C>T (p.Pro416Leu) n.290-1397C>T c.1226C>T (p.Pro409Leu) c.*694C>T (n.*694C>T) c.815C>T (p.Pro272Leu) c.698C>T (p.Pro233Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463151G>C | CA370808957 | CHRNA2 | c.1292C>G (p.Pro431Arg) c.1247C>G (p.Pro416Arg) n.290-1397C>G c.1226C>G (p.Pro409Arg) c.*694C>G (n.*694C>G) c.815C>G (p.Pro272Arg) c.698C>G (p.Pro233Arg) | |
| 8 | g.27463151G= | CA1772813501 | CHRNA2 | c.1292C= (p.Pro431=) c.1247C= (p.Pro416=) n.290-1397C= c.1226C= (p.Pro409=) c.*694C= (n.*694C=) c.815C= (p.Pro272=) c.698C= (p.Pro233=) | |
| 8 | g.27463151G>T | CA370808958 | CHRNA2 | c.1292C>A (p.Pro431His) c.1247C>A (p.Pro416His) n.290-1397C>A c.1226C>A (p.Pro409His) c.*694C>A (n.*694C>A) c.815C>A (p.Pro272His) c.698C>A (p.Pro233His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463152G>A | CA370808959 | CHRNA2 | c.1291C>T (p.Pro431Ser) c.1246C>T (p.Pro416Ser) n.290-1398C>T c.1225C>T (p.Pro409Ser) c.*693C>T (n.*693C>T) c.814C>T (p.Pro272Ser) c.697C>T (p.Pro233Ser) | |
| 8 | g.27463152G>C | CA370808960 | CHRNA2 | c.1291C>G (p.Pro431Ala) c.1246C>G (p.Pro416Ala) n.290-1398C>G c.1225C>G (p.Pro409Ala) c.*693C>G (n.*693C>G) c.814C>G (p.Pro272Ala) c.697C>G (p.Pro233Ala) | |
| 8 | g.27463152G= | CA1772813507 | CHRNA2 | c.1291C= (p.Pro431=) c.1246C= (p.Pro416=) n.290-1398C= c.1225C= (p.Pro409=) c.*693C= (n.*693C=) c.814C= (p.Pro272=) c.697C= (p.Pro233=) | |
| 8 | g.27463152G>T | CA370808961 | CHRNA2 | c.1291C>A (p.Pro431Thr) c.1246C>A (p.Pro416Thr) n.290-1398C>A c.1225C>A (p.Pro409Thr) c.*693C>A (n.*693C>A) c.814C>A (p.Pro272Thr) c.697C>A (p.Pro233Thr) | |
| 8 | g.27463152_27463153insT | CA580954914 | CHRNA2 | c.1290_1291insA (p.Pro431ThrfsTer22) c.1245_1246insA (p.Pro416ThrfsTer22) n.290-1399_290-1398insA c.1224_1225insA (p.Pro409ThrfsTer22) c.*692_*693insA (n.*692_*693insA) c.813_814insA (p.Pro272ThrfsTer22) c.696_697insA (p.Pro233ThrfsTer22) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463153G>A | CA460186078 | CHRNA2 | c.1290C>T (p.Ala430=) c.1245C>T (p.Ala415=) n.290-1399C>T c.1224C>T (p.Ala408=) c.*692C>T (n.*692C>T) c.813C>T (p.Ala271=) c.696C>T (p.Ala232=) | gnomAD v4 |
| 8 | g.27463153G>C | CA460186079 | CHRNA2 | c.1290C>G (p.Ala430=) c.1245C>G (p.Ala415=) n.290-1399C>G c.1224C>G (p.Ala408=) c.*692C>G (n.*692C>G) c.813C>G (p.Ala271=) c.696C>G (p.Ala232=) | |
| 8 | g.27463153G= | CA1772813511 | CHRNA2 | c.1290C= (p.Ala430=) c.1245C= (p.Ala415=) n.290-1399C= c.1224C= (p.Ala408=) c.*692C= (n.*692C=) c.813C= (p.Ala271=) c.696C= (p.Ala232=) | |
| 8 | g.27463153G>T | CA460186080 | CHRNA2 | c.1290C>A (p.Ala430=) c.1245C>A (p.Ala415=) n.290-1399C>A c.1224C>A (p.Ala408=) c.*692C>A (n.*692C>A) c.813C>A (p.Ala271=) c.696C>A (p.Ala232=) | dbSNP |
| 8 | g.27463153_27463154insCCACAGAGGGT | CA580954915 | CHRNA2 | c.1289_1290insACCCTCTGTGG (p.Gly434AlafsTer?) c.1244_1245insACCCTCTGTGG (p.Gly419AlafsTer?) n.290-1400_290-1399insACCCTCTGTGG c.1223_1224insACCCTCTGTGG (p.Gly412AlafsTer?) c.*691_*692insACCCTCTGTGG (n.*691_*692insACCCTCTGTGG) c.812_813insACCCTCTGTGG (p.Gly275AlafsTer?) c.695_696insACCCTCTGTGG (p.Gly236AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463154G>A | CA370808962 | CHRNA2 | c.1289C>T (p.Ala430Val) c.1244C>T (p.Ala415Val) n.290-1400C>T c.1223C>T (p.Ala408Val) c.*691C>T (n.*691C>T) c.812C>T (p.Ala271Val) c.695C>T (p.Ala232Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463154G>C | CA370808963 | CHRNA2 | c.1289C>G (p.Ala430Gly) c.1244C>G (p.Ala415Gly) n.290-1400C>G c.1223C>G (p.Ala408Gly) c.*691C>G (n.*691C>G) c.812C>G (p.Ala271Gly) c.695C>G (p.Ala232Gly) | |
| 8 | g.27463154G= | CA1772813515 | CHRNA2 | c.1289C= (p.Ala430=) c.1244C= (p.Ala415=) n.290-1400C= c.1223C= (p.Ala408=) c.*691C= (n.*691C=) c.812C= (p.Ala271=) c.695C= (p.Ala232=) | |
| 8 | g.27463154G>T | CA370808964 | CHRNA2 | c.1289C>A (p.Ala430Asp) c.1244C>A (p.Ala415Asp) n.290-1400C>A c.1223C>A (p.Ala408Asp) c.*691C>A (n.*691C>A) c.812C>A (p.Ala271Asp) c.695C>A (p.Ala232Asp) | dbSNP |
| 8 | g.27463155C>A | CA370808967 | CHRNA2 | c.1288G>T (p.Ala430Ser) c.1243G>T (p.Ala415Ser) n.290-1401G>T c.1222G>T (p.Ala408Ser) c.*690G>T (n.*690G>T) c.811G>T (p.Ala271Ser) c.694G>T (p.Ala232Ser) | gnomAD v4 |
| 8 | g.27463155C= | CA1772813517 | CHRNA2 | c.1288G= (p.Ala430=) c.1243G= (p.Ala415=) n.290-1401G= c.1222G= (p.Ala408=) c.*690G= (n.*690G=) c.811G= (p.Ala271=) c.694G= (p.Ala232=) | |
| 8 | g.27463155C>G | CA370808965 | CHRNA2 | c.1288G>C (p.Ala430Pro) c.1243G>C (p.Ala415Pro) n.290-1401G>C c.1222G>C (p.Ala408Pro) c.*690G>C (n.*690G>C) c.811G>C (p.Ala271Pro) c.694G>C (p.Ala232Pro) | |
| 8 | g.27463155C>T | CA370808966 | CHRNA2 | c.1288G>A (p.Ala430Thr) c.1243G>A (p.Ala415Thr) n.290-1401G>A c.1222G>A (p.Ala408Thr) c.*690G>A (n.*690G>A) c.811G>A (p.Ala271Thr) c.694G>A (p.Ala232Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463156C>A | CA460186083 | CHRNA2 | c.1287G>T (p.Val429=) c.1242G>T (p.Val414=) n.290-1402G>T c.1221G>T (p.Val407=) c.*689G>T (n.*689G>T) c.810G>T (p.Val270=) c.693G>T (p.Val231=) | gnomAD v4 |
| 8 | g.27463156C>G | CA460186084 | CHRNA2 | c.1287G>C (p.Val429=) c.1242G>C (p.Val414=) n.290-1402G>C c.1221G>C (p.Val407=) c.*689G>C (n.*689G>C) c.810G>C (p.Val270=) c.693G>C (p.Val231=) | |
| 8 | g.27463156C>T | CA460186085 | CHRNA2 | c.1287G>A (p.Val429=) c.1242G>A (p.Val414=) n.290-1402G>A c.1221G>A (p.Val407=) c.*689G>A (n.*689G>A) c.810G>A (p.Val270=) c.693G>A (p.Val231=) | |
| 8 | g.27463157A>C | CA370808968 | CHRNA2 | c.1286T>G (p.Val429Gly) c.1241T>G (p.Val414Gly) n.290-1403T>G c.1220T>G (p.Val407Gly) c.*688T>G (n.*688T>G) c.809T>G (p.Val270Gly) c.692T>G (p.Val231Gly) | |
| 8 | g.27463157A>G | CA370808969 | CHRNA2 | c.1286T>C (p.Val429Ala) c.1241T>C (p.Val414Ala) n.290-1403T>C c.1220T>C (p.Val407Ala) c.*688T>C (n.*688T>C) c.809T>C (p.Val270Ala) c.692T>C (p.Val231Ala) | |
| 8 | g.27463157A>T | CA370808970 | CHRNA2 | c.1286T>A (p.Val429Glu) c.1241T>A (p.Val414Glu) n.290-1403T>A c.1220T>A (p.Val407Glu) c.*688T>A (n.*688T>A) c.809T>A (p.Val270Glu) c.692T>A (p.Val231Glu) | |
| 8 | g.27463158C>A | CA370808971 | CHRNA2 | c.1285G>T (p.Val429Leu) c.1240G>T (p.Val414Leu) n.290-1404G>T c.1219G>T (p.Val407Leu) c.*687G>T (n.*687G>T) c.808G>T (p.Val270Leu) c.691G>T (p.Val231Leu) | gnomAD v4 |
| 8 | g.27463158C>G | CA370808972 | CHRNA2 | c.1285G>C (p.Val429Leu) c.1240G>C (p.Val414Leu) n.290-1404G>C c.1219G>C (p.Val407Leu) c.*687G>C (n.*687G>C) c.808G>C (p.Val270Leu) c.691G>C (p.Val231Leu) | |
| 8 | g.27463158C>T | CA370808973 | CHRNA2 | c.1285G>A (p.Val429Met) c.1240G>A (p.Val414Met) n.290-1404G>A c.1219G>A (p.Val407Met) c.*687G>A (n.*687G>A) c.808G>A (p.Val270Met) c.691G>A (p.Val231Met) | gnomAD v4 COSMIC |
| 8 | g.27463159A>C | CA370808974 | CHRNA2 | c.1284T>G (p.His428Gln) c.1239T>G (p.His413Gln) n.290-1405T>G c.1218T>G (p.His406Gln) c.*686T>G (n.*686T>G) c.807T>G (p.His269Gln) c.690T>G (p.His230Gln) | |
| 8 | g.27463159A>G | CA460186087 | CHRNA2 | c.1284T>C (p.His428=) c.1239T>C (p.His413=) n.290-1405T>C c.1218T>C (p.His406=) c.*686T>C (n.*686T>C) c.807T>C (p.His269=) c.690T>C (p.His230=) | gnomAD v4 |
| 8 | g.27463159A>T | CA370808975 | CHRNA2 | c.1284T>A (p.His428Gln) c.1239T>A (p.His413Gln) n.290-1405T>A c.1218T>A (p.His406Gln) c.*686T>A (n.*686T>A) c.807T>A (p.His269Gln) c.690T>A (p.His230Gln) | |
| 8 | g.27463160T>A | CA370808976 | CHRNA2 | c.1283A>T (p.His428Leu) c.1238A>T (p.His413Leu) n.290-1406A>T c.1217A>T (p.His406Leu) c.*685A>T (n.*685A>T) c.806A>T (p.His269Leu) c.689A>T (p.His230Leu) | |
| 8 | g.27463160T>C | CA370808977 | CHRNA2 | c.1283A>G (p.His428Arg) c.1238A>G (p.His413Arg) n.290-1406A>G c.1217A>G (p.His406Arg) c.*685A>G (n.*685A>G) c.806A>G (p.His269Arg) c.689A>G (p.His230Arg) | |
| 8 | g.27463160T>G | CA370808978 | CHRNA2 | c.1283A>C (p.His428Pro) c.1238A>C (p.His413Pro) n.290-1406A>C c.1217A>C (p.His406Pro) c.*685A>C (n.*685A>C) c.806A>C (p.His269Pro) c.689A>C (p.His230Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463160T= | CA1772813520 | CHRNA2 | c.1283A= (p.His428=) c.1238A= (p.His413=) n.290-1406A= c.1217A= (p.His406=) c.*685A= (n.*685A=) c.806A= (p.His269=) c.689A= (p.His230=) | |
| 8 | g.27463161G>A | CA370808980 | CHRNA2 | c.1282C>T (p.His428Tyr) c.1237C>T (p.His413Tyr) n.290-1407C>T c.1216C>T (p.His406Tyr) c.*684C>T (n.*684C>T) c.805C>T (p.His269Tyr) c.688C>T (p.His230Tyr) | COSMIC |
| 8 | g.27463161G>C | CA370808981 | CHRNA2 | c.1282C>G (p.His428Asp) c.1237C>G (p.His413Asp) n.290-1407C>G c.1216C>G (p.His406Asp) c.*684C>G (n.*684C>G) c.805C>G (p.His269Asp) c.688C>G (p.His230Asp) | |
| 8 | g.27463161G>T | CA370808979 | CHRNA2 | c.1282C>A (p.His428Asn) c.1237C>A (p.His413Asn) n.290-1407C>A c.1216C>A (p.His406Asn) c.*684C>A (n.*684C>A) c.805C>A (p.His269Asn) c.688C>A (p.His230Asn) | |
| 8 | g.27463162A>C | CA460186092 | CHRNA2 | c.1281T>G (p.Gly427=) c.1236T>G (p.Gly412=) n.290-1408T>G c.1215T>G (p.Gly405=) c.*683T>G (n.*683T>G) c.804T>G (p.Gly268=) c.687T>G (p.Gly229=) | |
| 8 | g.27463162A>G | CA460186093 | CHRNA2 | c.1281T>C (p.Gly427=) c.1236T>C (p.Gly412=) n.290-1408T>C c.1215T>C (p.Gly405=) c.*683T>C (n.*683T>C) c.804T>C (p.Gly268=) c.687T>C (p.Gly229=) | |
| 8 | g.27463162A>T | CA460186094 | CHRNA2 | c.1281T>A (p.Gly427=) c.1236T>A (p.Gly412=) n.290-1408T>A c.1215T>A (p.Gly405=) c.*683T>A (n.*683T>A) c.804T>A (p.Gly268=) c.687T>A (p.Gly229=) | |
| 8 | g.27463163C>A | CA370808982 | CHRNA2 | c.1280G>T (p.Gly427Val) c.1235G>T (p.Gly412Val) n.290-1409G>T c.1214G>T (p.Gly405Val) c.*682G>T (n.*682G>T) c.803G>T (p.Gly268Val) c.686G>T (p.Gly229Val) | |
| 8 | g.27463163C>G | CA370808983 | CHRNA2 | c.1280G>C (p.Gly427Ala) c.1235G>C (p.Gly412Ala) n.290-1409G>C c.1214G>C (p.Gly405Ala) c.*682G>C (n.*682G>C) c.803G>C (p.Gly268Ala) c.686G>C (p.Gly229Ala) | gnomAD v4 |
| 8 | g.27463163C>T | CA370808984 | CHRNA2 | c.1280G>A (p.Gly427Asp) c.1235G>A (p.Gly412Asp) n.290-1409G>A c.1214G>A (p.Gly405Asp) c.*682G>A (n.*682G>A) c.803G>A (p.Gly268Asp) c.686G>A (p.Gly229Asp) | gnomAD v4 |
| 8 | g.27463164C>A | CA370808985 | CHRNA2 | c.1279G>T (p.Gly427Cys) c.1234G>T (p.Gly412Cys) n.290-1410G>T c.1213G>T (p.Gly405Cys) c.*681G>T (n.*681G>T) c.802G>T (p.Gly268Cys) c.685G>T (p.Gly229Cys) | |
| 8 | g.27463164C>G | CA370808986 | CHRNA2 | c.1279G>C (p.Gly427Arg) c.1234G>C (p.Gly412Arg) n.290-1410G>C c.1213G>C (p.Gly405Arg) c.*681G>C (n.*681G>C) c.802G>C (p.Gly268Arg) c.685G>C (p.Gly229Arg) | |
| 8 | g.27463164C>T | CA370808987 | CHRNA2 | c.1279G>A (p.Gly427Ser) c.1234G>A (p.Gly412Ser) n.290-1410G>A c.1213G>A (p.Gly405Ser) c.*681G>A (n.*681G>A) c.802G>A (p.Gly268Ser) c.685G>A (p.Gly229Ser) | gnomAD v4 |
| 8 | g.27463165T>A | CA460186096 | CHRNA2 | c.1278A>T (p.Ala426=) c.1233A>T (p.Ala411=) n.290-1411A>T c.1212A>T (p.Ala404=) c.*680A>T (n.*680A>T) c.801A>T (p.Ala267=) c.684A>T (p.Ala228=) | |
| 8 | g.27463165T>C | CA460186098 | CHRNA2 | c.1278A>G (p.Ala426=) c.1233A>G (p.Ala411=) n.290-1411A>G c.1212A>G (p.Ala404=) c.*680A>G (n.*680A>G) c.801A>G (p.Ala267=) c.684A>G (p.Ala228=) | dbSNP gnomAD v4 COSMIC |
| 8 | g.27463165T>G | CA460186097 | CHRNA2 | c.1278A>C (p.Ala426=) c.1233A>C (p.Ala411=) n.290-1411A>C c.1212A>C (p.Ala404=) c.*680A>C (n.*680A>C) c.801A>C (p.Ala267=) c.684A>C (p.Ala228=) | |
| 8 | g.27463165T= | CA1772813522 | CHRNA2 | c.1278A= (p.Ala426=) c.1233A= (p.Ala411=) n.290-1411A= c.1212A= (p.Ala404=) c.*680A= (n.*680A=) c.801A= (p.Ala267=) c.684A= (p.Ala228=) | |
| 8 | g.27463166G>A | CA370808989 | CHRNA2 | c.1277C>T (p.Ala426Val) c.1232C>T (p.Ala411Val) n.290-1412C>T c.1211C>T (p.Ala404Val) c.*679C>T (n.*679C>T) c.800C>T (p.Ala267Val) c.683C>T (p.Ala228Val) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463166G>C | CA4689486 | CHRNA2 | c.1277C>G (p.Ala426Gly) c.1232C>G (p.Ala411Gly) n.290-1412C>G c.1211C>G (p.Ala404Gly) c.*679C>G (n.*679C>G) c.800C>G (p.Ala267Gly) c.683C>G (p.Ala228Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463166G= | CA1772813526 | CHRNA2 | c.1277C= (p.Ala426=) c.1232C= (p.Ala411=) n.290-1412C= c.1211C= (p.Ala404=) c.*679C= (n.*679C=) c.800C= (p.Ala267=) c.683C= (p.Ala228=) | |
| 8 | g.27463166G>T | CA370808988 | CHRNA2 | c.1277C>A (p.Ala426Glu) c.1232C>A (p.Ala411Glu) n.290-1412C>A c.1211C>A (p.Ala404Glu) c.*679C>A (n.*679C>A) c.800C>A (p.Ala267Glu) c.683C>A (p.Ala228Glu) | |
| 8 | g.27463167C>A | CA370808990 | CHRNA2 | c.1276G>T (p.Ala426Ser) c.1231G>T (p.Ala411Ser) n.290-1413G>T c.1210G>T (p.Ala404Ser) c.*678G>T (n.*678G>T) c.799G>T (p.Ala267Ser) c.682G>T (p.Ala228Ser) | gnomAD v4 |
| 8 | g.27463167C>G | CA370808991 | CHRNA2 | c.1276G>C (p.Ala426Pro) c.1231G>C (p.Ala411Pro) n.290-1413G>C c.1210G>C (p.Ala404Pro) c.*678G>C (n.*678G>C) c.799G>C (p.Ala267Pro) c.682G>C (p.Ala228Pro) | |
| 8 | g.27463167C>T | CA370808992 | CHRNA2 | c.1276G>A (p.Ala426Thr) c.1231G>A (p.Ala411Thr) n.290-1413G>A c.1210G>A (p.Ala404Thr) c.*678G>A (n.*678G>A) c.799G>A (p.Ala267Thr) c.682G>A (p.Ala228Thr) | |
| 8 | g.27463168A= | CA1772813529 | CHRNA2 | c.1275T= (p.Cys425=) c.1230T= (p.Cys410=) n.290-1414T= c.1209T= (p.Cys403=) c.*677T= (n.*677T=) c.798T= (p.Cys266=) c.681T= (p.Cys227=) | |
| 8 | g.27463168A>C | CA370808993 | CHRNA2 | c.1275T>G (p.Cys425Trp) c.1230T>G (p.Cys410Trp) n.290-1414T>G c.1209T>G (p.Cys403Trp) c.*677T>G (n.*677T>G) c.798T>G (p.Cys266Trp) c.681T>G (p.Cys227Trp) | ClinVar |
| 8 | g.27463168A>G | CA460186103 | CHRNA2 | c.1275T>C (p.Cys425=) c.1230T>C (p.Cys410=) n.290-1414T>C c.1209T>C (p.Cys403=) c.*677T>C (n.*677T>C) c.798T>C (p.Cys266=) c.681T>C (p.Cys227=) | gnomAD v4 |
| 8 | g.27463168A>T | CA4689487 | CHRNA2 | c.1275T>A (p.Cys425Ter) c.1230T>A (p.Cys410Ter) n.290-1414T>A c.1209T>A (p.Cys403Ter) c.*677T>A (n.*677T>A) c.798T>A (p.Cys266Ter) c.681T>A (p.Cys227Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463169C>A | CA370808994 | CHRNA2 | c.1274G>T (p.Cys425Phe) c.1229G>T (p.Cys410Phe) n.290-1415G>T c.1208G>T (p.Cys403Phe) c.*676G>T (n.*676G>T) c.797G>T (p.Cys266Phe) c.680G>T (p.Cys227Phe) | |
| 8 | g.27463169C= | CA1772813531 | CHRNA2 | c.1274G= (p.Cys425=) c.1229G= (p.Cys410=) n.290-1415G= c.1208G= (p.Cys403=) c.*676G= (n.*676G=) c.797G= (p.Cys266=) c.680G= (p.Cys227=) | |
| 8 | g.27463169C>G | CA370808995 | CHRNA2 | c.1274G>C (p.Cys425Ser) c.1229G>C (p.Cys410Ser) n.290-1415G>C c.1208G>C (p.Cys403Ser) c.*676G>C (n.*676G>C) c.797G>C (p.Cys266Ser) c.680G>C (p.Cys227Ser) | |
| 8 | g.27463169C>T | CA174241255 | CHRNA2 | c.1274G>A (p.Cys425Tyr) c.1229G>A (p.Cys410Tyr) n.290-1415G>A c.1208G>A (p.Cys403Tyr) c.*676G>A (n.*676G>A) c.797G>A (p.Cys266Tyr) c.680G>A (p.Cys227Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463170A= | CA1772813532 | CHRNA2 | c.1273T= (p.Cys425=) c.1228T= (p.Cys410=) n.290-1416T= c.1207T= (p.Cys403=) c.*675T= (n.*675T=) c.796T= (p.Cys266=) c.679T= (p.Cys227=) | |
| 8 | g.27463170A>C | CA370808996 | CHRNA2 | c.1273T>G (p.Cys425Gly) c.1228T>G (p.Cys410Gly) n.290-1416T>G c.1207T>G (p.Cys403Gly) c.*675T>G (n.*675T>G) c.796T>G (p.Cys266Gly) c.679T>G (p.Cys227Gly) | dbSNP gnomAD v2 |
| 8 | g.27463170A>G | CA370808997 | CHRNA2 | c.1273T>C (p.Cys425Arg) c.1228T>C (p.Cys410Arg) n.290-1416T>C c.1207T>C (p.Cys403Arg) c.*675T>C (n.*675T>C) c.796T>C (p.Cys266Arg) c.679T>C (p.Cys227Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463170A>T | CA370808998 | CHRNA2 | c.1273T>A (p.Cys425Ser) c.1228T>A (p.Cys410Ser) n.290-1416T>A c.1207T>A (p.Cys403Ser) c.*675T>A (n.*675T>A) c.796T>A (p.Cys266Ser) c.679T>A (p.Cys227Ser) | ClinVar dbSNP |
| 8 | g.27463171T>A | CA460186107 | CHRNA2 | c.1272A>T (p.Ala424=) c.1227A>T (p.Ala409=) n.290-1417A>T c.1206A>T (p.Ala402=) c.*674A>T (n.*674A>T) c.795A>T (p.Ala265=) c.678A>T (p.Ala226=) | |
| 8 | g.27463171T>C | CA460186108 | CHRNA2 | c.1272A>G (p.Ala424=) c.1227A>G (p.Ala409=) n.290-1417A>G c.1206A>G (p.Ala402=) c.*674A>G (n.*674A>G) c.795A>G (p.Ala265=) c.678A>G (p.Ala226=) | gnomAD v4 |
| 8 | g.27463171T>G | CA460186109 | CHRNA2 | c.1272A>C (p.Ala424=) c.1227A>C (p.Ala409=) n.290-1417A>C c.1206A>C (p.Ala402=) c.*674A>C (n.*674A>C) c.795A>C (p.Ala265=) c.678A>C (p.Ala226=) | |
| 8 | g.27463172G>A | CA370808999 | CHRNA2 | c.1271C>T (p.Ala424Val) c.1226C>T (p.Ala409Val) n.290-1418C>T c.1205C>T (p.Ala402Val) c.*673C>T (n.*673C>T) c.794C>T (p.Ala265Val) c.677C>T (p.Ala226Val) | gnomAD v4 |
| 8 | g.27463172G>C | CA370809000 | CHRNA2 | c.1271C>G (p.Ala424Gly) c.1226C>G (p.Ala409Gly) n.290-1418C>G c.1205C>G (p.Ala402Gly) c.*673C>G (n.*673C>G) c.794C>G (p.Ala265Gly) c.677C>G (p.Ala226Gly) | |
| 8 | g.27463172G>T | CA370809001 | CHRNA2 | c.1271C>A (p.Ala424Glu) c.1226C>A (p.Ala409Glu) n.290-1418C>A c.1205C>A (p.Ala402Glu) c.*673C>A (n.*673C>A) c.794C>A (p.Ala265Glu) c.677C>A (p.Ala226Glu) | |
| 8 | g.27463173C>A | CA370809002 | CHRNA2 | c.1270G>T (p.Ala424Ser) c.1225G>T (p.Ala409Ser) n.290-1419G>T c.1204G>T (p.Ala402Ser) c.*672G>T (n.*672G>T) c.793G>T (p.Ala265Ser) c.676G>T (p.Ala226Ser) | gnomAD v4 |
| 8 | g.27463173C= | CA1772813535 | CHRNA2 | c.1270G= (p.Ala424=) c.1225G= (p.Ala409=) n.290-1419G= c.1204G= (p.Ala402=) c.*672G= (n.*672G=) c.793G= (p.Ala265=) c.676G= (p.Ala226=) | |
| 8 | g.27463173C>G | CA370809003 | CHRNA2 | c.1270G>C (p.Ala424Pro) c.1225G>C (p.Ala409Pro) n.290-1419G>C c.1204G>C (p.Ala402Pro) c.*672G>C (n.*672G>C) c.793G>C (p.Ala265Pro) c.676G>C (p.Ala226Pro) | |
| 8 | g.27463173C>T | CA4689488 | CHRNA2 | c.1270G>A (p.Ala424Thr) c.1225G>A (p.Ala409Thr) n.290-1419G>A c.1204G>A (p.Ala402Thr) c.*672G>A (n.*672G>A) c.793G>A (p.Ala265Thr) c.676G>A (p.Ala226Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463174C>A | CA370809004 | CHRNA2 | c.1269G>T (p.Trp423Cys) c.1224G>T (p.Trp408Cys) n.290-1420G>T c.1203G>T (p.Trp401Cys) c.*671G>T (n.*671G>T) c.792G>T (p.Trp264Cys) c.675G>T (p.Trp225Cys) | gnomAD v4 |
| 8 | g.27463174C>G | CA370809005 | CHRNA2 | c.1269G>C (p.Trp423Cys) c.1224G>C (p.Trp408Cys) n.290-1420G>C c.1203G>C (p.Trp401Cys) c.*671G>C (n.*671G>C) c.792G>C (p.Trp264Cys) c.675G>C (p.Trp225Cys) | |
| 8 | g.27463174C>T | CA370809006 | CHRNA2 | c.1269G>A (p.Trp423Ter) c.1224G>A (p.Trp408Ter) n.290-1420G>A c.1203G>A (p.Trp401Ter) c.*671G>A (n.*671G>A) c.792G>A (p.Trp264Ter) c.675G>A (p.Trp225Ter) | gnomAD v4 |
| 8 | g.27463175C>A | CA370809009 | CHRNA2 | c.1268G>T (p.Trp423Leu) c.1223G>T (p.Trp408Leu) n.290-1421G>T c.1202G>T (p.Trp401Leu) c.*670G>T (n.*670G>T) c.791G>T (p.Trp264Leu) c.674G>T (p.Trp225Leu) | |
| 8 | g.27463175C>G | CA370809008 | CHRNA2 | c.1268G>C (p.Trp423Ser) c.1223G>C (p.Trp408Ser) n.290-1421G>C c.1202G>C (p.Trp401Ser) c.*670G>C (n.*670G>C) c.791G>C (p.Trp264Ser) c.674G>C (p.Trp225Ser) | |
| 8 | g.27463175C>T | CA370809007 | CHRNA2 | c.1268G>A (p.Trp423Ter) c.1223G>A (p.Trp408Ter) n.290-1421G>A c.1202G>A (p.Trp401Ter) c.*670G>A (n.*670G>A) c.791G>A (p.Trp264Ter) c.674G>A (p.Trp225Ter) | |
| 8 | g.27463176A= | CA1772813540 | CHRNA2 | c.1267T= (p.Trp423=) c.1222T= (p.Trp408=) n.290-1422T= c.1201T= (p.Trp401=) c.*669T= (n.*669T=) c.790T= (p.Trp264=) c.673T= (p.Trp225=) | |
| 8 | g.27463176A>C | CA370809010 | CHRNA2 | c.1267T>G (p.Trp423Gly) c.1222T>G (p.Trp408Gly) n.290-1422T>G c.1201T>G (p.Trp401Gly) c.*669T>G (n.*669T>G) c.790T>G (p.Trp264Gly) c.673T>G (p.Trp225Gly) | |
| 8 | g.27463176A>G | CA370809011 | CHRNA2 | c.1267T>C (p.Trp423Arg) c.1222T>C (p.Trp408Arg) n.290-1422T>C c.1201T>C (p.Trp401Arg) c.*669T>C (n.*669T>C) c.790T>C (p.Trp264Arg) c.673T>C (p.Trp225Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463176A>T | CA370809012 | CHRNA2 | c.1267T>A (p.Trp423Arg) c.1222T>A (p.Trp408Arg) n.290-1422T>A c.1201T>A (p.Trp401Arg) c.*669T>A (n.*669T>A) c.790T>A (p.Trp264Arg) c.673T>A (p.Trp225Arg) | gnomAD v4 |
| 8 | g.27463177T>A | CA370809013 | CHRNA2 | c.1266A>T (p.Arg422Ser) c.1221A>T (p.Arg407Ser) n.290-1423A>T c.1200A>T (p.Arg400Ser) c.*668A>T (n.*668A>T) c.789A>T (p.Arg263Ser) c.672A>T (p.Arg224Ser) | ClinVar dbSNP |
| 8 | g.27463177T>C | CA460186115 | CHRNA2 | c.1266A>G (p.Arg422=) c.1221A>G (p.Arg407=) n.290-1423A>G c.1200A>G (p.Arg400=) c.*668A>G (n.*668A>G) c.789A>G (p.Arg263=) c.672A>G (p.Arg224=) | |
| 8 | g.27463177T>G | CA370809014 | CHRNA2 | c.1266A>C (p.Arg422Ser) c.1221A>C (p.Arg407Ser) n.290-1423A>C c.1200A>C (p.Arg400Ser) c.*668A>C (n.*668A>C) c.789A>C (p.Arg263Ser) c.672A>C (p.Arg224Ser) | |
| 8 | g.27463178C>A | CA370809015 | CHRNA2 | c.1265G>T (p.Arg422Ile) c.1220G>T (p.Arg407Ile) n.290-1424G>T c.1199G>T (p.Arg400Ile) c.*667G>T (n.*667G>T) c.788G>T (p.Arg263Ile) c.671G>T (p.Arg224Ile) | |
| 8 | g.27463178C= | CA1772813546 | CHRNA2 | c.1265G= (p.Arg422=) c.1220G= (p.Arg407=) n.290-1424G= c.1199G= (p.Arg400=) c.*667G= (n.*667G=) c.788G= (p.Arg263=) c.671G= (p.Arg224=) | |
| 8 | g.27463178C>G | CA4689489 | CHRNA2 | c.1265G>C (p.Arg422Thr) c.1220G>C (p.Arg407Thr) n.290-1424G>C c.1199G>C (p.Arg400Thr) c.*667G>C (n.*667G>C) c.788G>C (p.Arg263Thr) c.671G>C (p.Arg224Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463178C>T | CA370809016 | CHRNA2 | c.1265G>A (p.Arg422Lys) c.1220G>A (p.Arg407Lys) n.290-1424G>A c.1199G>A (p.Arg400Lys) c.*667G>A (n.*667G>A) c.788G>A (p.Arg263Lys) c.671G>A (p.Arg224Lys) | |
| 8 | g.27463179T>A | CA370809017 | CHRNA2 | c.1264A>T (p.Arg422Ter) c.1219A>T (p.Arg407Ter) n.290-1425A>T c.1198A>T (p.Arg400Ter) c.*666A>T (n.*666A>T) c.787A>T (p.Arg263Ter) c.670A>T (p.Arg224Ter) | |
| 8 | g.27463179T>C | CA370809018 | CHRNA2 | c.1264A>G (p.Arg422Gly) c.1219A>G (p.Arg407Gly) n.290-1425A>G c.1198A>G (p.Arg400Gly) c.*666A>G (n.*666A>G) c.787A>G (p.Arg263Gly) c.670A>G (p.Arg224Gly) | ClinVar dbSNP |
| 8 | g.27463179T>G | CA460186117 | CHRNA2 | c.1264A>C (p.Arg422=) c.1219A>C (p.Arg407=) n.290-1425A>C c.1198A>C (p.Arg400=) c.*666A>C (n.*666A>C) c.787A>C (p.Arg263=) c.670A>C (p.Arg224=) | |
| 8 | g.27463179T= | CA1772813550 | CHRNA2 | c.1264A= (p.Arg422=) c.1219A= (p.Arg407=) n.290-1425A= c.1198A= (p.Arg400=) c.*666A= (n.*666A=) c.787A= (p.Arg263=) c.670A= (p.Arg224=) | |
| 8 | g.27463180G>A | CA460186118 | CHRNA2 | c.1263C>T (p.Asp421=) c.1218C>T (p.Asp406=) n.290-1426C>T c.1197C>T (p.Asp399=) c.*665C>T (n.*665C>T) c.786C>T (p.Asp262=) c.669C>T (p.Asp223=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463180G>C | CA370809019 | CHRNA2 | c.1263C>G (p.Asp421Glu) c.1218C>G (p.Asp406Glu) n.290-1426C>G c.1197C>G (p.Asp399Glu) c.*665C>G (n.*665C>G) c.786C>G (p.Asp262Glu) c.669C>G (p.Asp223Glu) | |
| 8 | g.27463180G>T | CA370809020 | CHRNA2 | c.1263C>A (p.Asp421Glu) c.1218C>A (p.Asp406Glu) n.290-1426C>A c.1197C>A (p.Asp399Glu) c.*665C>A (n.*665C>A) c.786C>A (p.Asp262Glu) c.669C>A (p.Asp223Glu) | |
| 8 | g.27463180_27463183delinsGTCC | CA1772813553 | CHRNA2 | c.1260_1263delinsGGAC (p.Glu420=) c.1215_1218delinsGGAC (p.Glu405=) n.290-1429_290-1426delinsGGAC c.1194_1197delinsGGAC (p.Glu398=) c.*662_*665delinsGGAC (n.*662_*665delinsGGAC) c.783_786delinsGGAC (p.Glu261=) c.666_669delinsGGAC (p.Glu222=) | |
| 8 | g.27463181T>A | CA370809021 | CHRNA2 | c.1262A>T (p.Asp421Val) c.1217A>T (p.Asp406Val) n.290-1427A>T c.1196A>T (p.Asp399Val) c.*664A>T (n.*664A>T) c.785A>T (p.Asp262Val) c.668A>T (p.Asp223Val) | |
| 8 | g.27463181T>C | CA16618620 | CHRNA2 | c.1262A>G (p.Asp421Gly) c.1217A>G (p.Asp406Gly) n.290-1427A>G c.1196A>G (p.Asp399Gly) c.*664A>G (n.*664A>G) c.785A>G (p.Asp262Gly) c.668A>G (p.Asp223Gly) | ClinVar dbSNP |
| 8 | g.27463181T>G | CA370809022 | CHRNA2 | c.1262A>C (p.Asp421Ala) c.1217A>C (p.Asp406Ala) n.290-1427A>C c.1196A>C (p.Asp399Ala) c.*664A>C (n.*664A>C) c.785A>C (p.Asp262Ala) c.668A>C (p.Asp223Ala) | |
| 8 | g.27463181T= | CA1772813555 | CHRNA2 | c.1262A= (p.Asp421=) c.1217A= (p.Asp406=) n.290-1427A= c.1196A= (p.Asp399=) c.*664A= (n.*664A=) c.785A= (p.Asp262=) c.668A= (p.Asp223=) | |
| 8 | g.27463190_27463192del | CA580954916 | CHRNA2 | c.1260_1262del (p.Glu420del) c.1215_1217del (p.Glu405del) n.290-1429_290-1427del c.1194_1196del (p.Glu398del) c.*662_*664del (n.*662_*664del) c.783_785del (p.Glu261del) c.666_668del (p.Glu222del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463182C>A | CA370809025 | CHRNA2 | c.1261G>T (p.Asp421Tyr) c.1216G>T (p.Asp406Tyr) n.290-1428G>T c.1195G>T (p.Asp399Tyr) c.*663G>T (n.*663G>T) c.784G>T (p.Asp262Tyr) c.667G>T (p.Asp223Tyr) | gnomAD v4 |
| 8 | g.27463182C= | CA1772813559 | CHRNA2 | c.1261G= (p.Asp421=) c.1216G= (p.Asp406=) n.290-1428G= c.1195G= (p.Asp399=) c.*663G= (n.*663G=) c.784G= (p.Asp262=) c.667G= (p.Asp223=) | |
| 8 | g.27463182C>G | CA370809023 | CHRNA2 | c.1261G>C (p.Asp421His) c.1216G>C (p.Asp406His) n.290-1428G>C c.1195G>C (p.Asp399His) c.*663G>C (n.*663G>C) c.784G>C (p.Asp262His) c.667G>C (p.Asp223His) | dbSNP gnomAD v4 |
| 8 | g.27463182C>T | CA370809024 | CHRNA2 | c.1261G>A (p.Asp421Asn) c.1216G>A (p.Asp406Asn) n.290-1428G>A c.1195G>A (p.Asp399Asn) c.*663G>A (n.*663G>A) c.784G>A (p.Asp262Asn) c.667G>A (p.Asp223Asn) | |
| 8 | g.27463182_27463183delinsGT | CA2580078093 | CHRNA2 | c.1260_1261delinsAC (p.Asp421His) c.1215_1216delinsAC (p.Asp406His) n.290-1429_290-1428delinsAC c.1194_1195delinsAC (p.Asp399His) c.*662_*663delinsAC (n.*662_*663delinsAC) c.783_784delinsAC (p.Asp262His) c.666_667delinsAC (p.Asp223His) | ClinVar |
| 8 | g.27463183del | CA645550781 | CHRNA2 | c.1261del (p.Asp421ThrfsTer?) c.1216del (p.Asp406ThrfsTer?) n.290-1428del c.1195del (p.Asp399ThrfsTer?) c.*663del (n.*663del) c.784del (p.Asp262ThrfsTer?) c.667del (p.Asp223ThrfsTer?) | COSMIC |
| 8 | g.27463183C>A | CA370809026 | CHRNA2 | c.1260G>T (p.Glu420Asp) c.1215G>T (p.Glu405Asp) n.290-1429G>T c.1194G>T (p.Glu398Asp) c.*662G>T (n.*662G>T) c.783G>T (p.Glu261Asp) c.666G>T (p.Glu222Asp) | |
| 8 | g.27463183C= | CA1772813564 | CHRNA2 | c.1260G= (p.Glu420=) c.1215G= (p.Glu405=) n.290-1429G= c.1194G= (p.Glu398=) c.*662G= (n.*662G=) c.783G= (p.Glu261=) c.666G= (p.Glu222=) | |
| 8 | g.27463183C>G | CA370809027 | CHRNA2 | c.1260G>C (p.Glu420Asp) c.1215G>C (p.Glu405Asp) n.290-1429G>C c.1194G>C (p.Glu398Asp) c.*662G>C (n.*662G>C) c.783G>C (p.Glu261Asp) c.666G>C (p.Glu222Asp) | |
| 8 | g.27463183C>T | CA16606051 | CHRNA2 | c.1260G>A (p.Glu420=) c.1215G>A (p.Glu405=) n.290-1429G>A c.1194G>A (p.Glu398=) c.*662G>A (n.*662G>A) c.783G>A (p.Glu261=) c.666G>A (p.Glu222=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463183_27463184delinsCT | CA1772813565 | CHRNA2 | c.1259_1260delinsAG (p.Glu420=) c.1214_1215delinsAG (p.Glu405=) n.290-1430_290-1429delinsAG c.1193_1194delinsAG (p.Glu398=) c.*661_*662delinsAG (n.*661_*662delinsAG) c.782_783delinsAG (p.Glu261=) c.665_666delinsAG (p.Glu222=) | |
| 8 | g.27463184del | CA850384191 | CHRNA2 | c.1259del (p.Glu420GlyfsTer?) c.1214del (p.Glu405GlyfsTer?) n.290-1430del c.1193del (p.Glu398GlyfsTer?) c.*661del (n.*661del) c.782del (p.Glu261GlyfsTer?) c.665del (p.Glu222GlyfsTer?) | ClinVar dbSNP |
| 8 | g.27463184T>A | CA370809028 | CHRNA2 | c.1259A>T (p.Glu420Val) c.1214A>T (p.Glu405Val) n.290-1430A>T c.1193A>T (p.Glu398Val) c.*661A>T (n.*661A>T) c.782A>T (p.Glu261Val) c.665A>T (p.Glu222Val) | |
| 8 | g.27463184T>C | CA370809029 | CHRNA2 | c.1259A>G (p.Glu420Gly) c.1214A>G (p.Glu405Gly) n.290-1430A>G c.1193A>G (p.Glu398Gly) c.*661A>G (n.*661A>G) c.782A>G (p.Glu261Gly) c.665A>G (p.Glu222Gly) | |
| 8 | g.27463184T>G | CA370809030 | CHRNA2 | c.1259A>C (p.Glu420Ala) c.1214A>C (p.Glu405Ala) n.290-1430A>C c.1193A>C (p.Glu398Ala) c.*661A>C (n.*661A>C) c.782A>C (p.Glu261Ala) c.665A>C (p.Glu222Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463184T= | CA1772813570 | CHRNA2 | c.1259A= (p.Glu420=) c.1214A= (p.Glu405=) n.290-1430A= c.1193A= (p.Glu398=) c.*661A= (n.*661A=) c.782A= (p.Glu261=) c.665A= (p.Glu222=) | |
| 8 | g.27463185C>A | CA370809031 | CHRNA2 | c.1258G>T (p.Glu420Ter) c.1213G>T (p.Glu405Ter) n.290-1431G>T c.1192G>T (p.Glu398Ter) c.*660G>T (n.*660G>T) c.781G>T (p.Glu261Ter) c.664G>T (p.Glu222Ter) | |
| 8 | g.27463185C>G | CA370809032 | CHRNA2 | c.1258G>C (p.Glu420Gln) c.1213G>C (p.Glu405Gln) n.290-1431G>C c.1192G>C (p.Glu398Gln) c.*660G>C (n.*660G>C) c.781G>C (p.Glu261Gln) c.664G>C (p.Glu222Gln) | |
| 8 | g.27463185C>T | CA370809033 | CHRNA2 | c.1258G>A (p.Glu420Lys) c.1213G>A (p.Glu405Lys) n.290-1431G>A c.1192G>A (p.Glu398Lys) c.*660G>A (n.*660G>A) c.781G>A (p.Glu261Lys) c.664G>A (p.Glu222Lys) | gnomAD v4 COSMIC |
| 8 | g.27463186C>A | CA370809034 | CHRNA2 | c.1257G>T (p.Glu419Asp) c.1212G>T (p.Glu404Asp) n.290-1432G>T c.1191G>T (p.Glu397Asp) c.*659G>T (n.*659G>T) c.780G>T (p.Glu260Asp) c.663G>T (p.Glu221Asp) | |
| 8 | g.27463186C>G | CA370809035 | CHRNA2 | c.1257G>C (p.Glu419Asp) c.1212G>C (p.Glu404Asp) n.290-1432G>C c.1191G>C (p.Glu397Asp) c.*659G>C (n.*659G>C) c.780G>C (p.Glu260Asp) c.663G>C (p.Glu221Asp) | |
| 8 | g.27463186C>T | CA460186128 | CHRNA2 | c.1257G>A (p.Glu419=) c.1212G>A (p.Glu404=) n.290-1432G>A c.1191G>A (p.Glu397=) c.*659G>A (n.*659G>A) c.780G>A (p.Glu260=) c.663G>A (p.Glu221=) | ClinVar dbSNP |
| 8 | g.27463187T>A | CA370809036 | CHRNA2 | c.1256A>T (p.Glu419Val) c.1211A>T (p.Glu404Val) n.290-1433A>T c.1190A>T (p.Glu397Val) c.*658A>T (n.*658A>T) c.779A>T (p.Glu260Val) c.662A>T (p.Glu221Val) | |
| 8 | g.27463187T>C | CA370809037 | CHRNA2 | c.1256A>G (p.Glu419Gly) c.1211A>G (p.Glu404Gly) n.290-1433A>G c.1190A>G (p.Glu397Gly) c.*658A>G (n.*658A>G) c.779A>G (p.Glu260Gly) c.662A>G (p.Glu221Gly) | |
| 8 | g.27463187T>G | CA370809038 | CHRNA2 | c.1256A>C (p.Glu419Ala) c.1211A>C (p.Glu404Ala) n.290-1433A>C c.1190A>C (p.Glu397Ala) c.*658A>C (n.*658A>C) c.779A>C (p.Glu260Ala) c.662A>C (p.Glu221Ala) | |
| 8 | g.27463188C>A | CA370809039 | CHRNA2 | c.1255G>T (p.Glu419Ter) c.1210G>T (p.Glu404Ter) n.290-1434G>T c.1189G>T (p.Glu397Ter) c.*657G>T (n.*657G>T) c.778G>T (p.Glu260Ter) c.661G>T (p.Glu221Ter) | |
| 8 | g.27463188C= | CA1772813573 | CHRNA2 | c.1255G= (p.Glu419=) c.1210G= (p.Glu404=) n.290-1434G= c.1189G= (p.Glu397=) c.*657G= (n.*657G=) c.778G= (p.Glu260=) c.661G= (p.Glu221=) | |
| 8 | g.27463188C>G | CA370809041 | CHRNA2 | c.1255G>C (p.Glu419Gln) c.1210G>C (p.Glu404Gln) n.290-1434G>C c.1189G>C (p.Glu397Gln) c.*657G>C (n.*657G>C) c.778G>C (p.Glu260Gln) c.661G>C (p.Glu221Gln) | |
| 8 | g.27463188C>T | CA370809040 | CHRNA2 | c.1255G>A (p.Glu419Lys) c.1210G>A (p.Glu404Lys) n.290-1434G>A c.1189G>A (p.Glu397Lys) c.*657G>A (n.*657G>A) c.778G>A (p.Glu260Lys) c.661G>A (p.Glu221Lys) | ClinVar dbSNP COSMIC |
| 8 | g.27463189C>A | CA370809042 | CHRNA2 | c.1254G>T (p.Glu418Asp) c.1209G>T (p.Glu403Asp) n.290-1435G>T c.1188G>T (p.Glu396Asp) c.*656G>T (n.*656G>T) c.777G>T (p.Glu259Asp) c.660G>T (p.Glu220Asp) | |
| 8 | g.27463189C= | CA1772813577 | CHRNA2 | c.1254G= (p.Glu418=) c.1209G= (p.Glu403=) n.290-1435G= c.1188G= (p.Glu396=) c.*656G= (n.*656G=) c.777G= (p.Glu259=) c.660G= (p.Glu220=) | |
| 8 | g.27463189C>G | CA370809043 | CHRNA2 | c.1254G>C (p.Glu418Asp) c.1209G>C (p.Glu403Asp) n.290-1435G>C c.1188G>C (p.Glu396Asp) c.*656G>C (n.*656G>C) c.777G>C (p.Glu259Asp) c.660G>C (p.Glu220Asp) | |
| 8 | g.27463189C>T | CA4689490 | CHRNA2 | c.1254G>A (p.Glu418=) c.1209G>A (p.Glu403=) n.290-1435G>A c.1188G>A (p.Glu396=) c.*656G>A (n.*656G>A) c.777G>A (p.Glu259=) c.660G>A (p.Glu220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463190T>A | CA370809044 | CHRNA2 | c.1253A>T (p.Glu418Val) c.1208A>T (p.Glu403Val) n.290-1436A>T c.1187A>T (p.Glu396Val) c.*655A>T (n.*655A>T) c.776A>T (p.Glu259Val) c.659A>T (p.Glu220Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.27463190T>C | CA370809045 | CHRNA2 | c.1253A>G (p.Glu418Gly) c.1208A>G (p.Glu403Gly) n.290-1436A>G c.1187A>G (p.Glu396Gly) c.*655A>G (n.*655A>G) c.776A>G (p.Glu259Gly) c.659A>G (p.Glu220Gly) | |
| 8 | g.27463190T>G | CA370809046 | CHRNA2 | c.1253A>C (p.Glu418Ala) c.1208A>C (p.Glu403Ala) n.290-1436A>C c.1187A>C (p.Glu396Ala) c.*655A>C (n.*655A>C) c.776A>C (p.Glu259Ala) c.659A>C (p.Glu220Ala) | |
| 8 | g.27463190T= | CA1772813581 | CHRNA2 | c.1253A= (p.Glu418=) c.1208A= (p.Glu403=) n.290-1436A= c.1187A= (p.Glu396=) c.*655A= (n.*655A=) c.776A= (p.Glu259=) c.659A= (p.Glu220=) | |
| 8 | g.27463191C>A | CA370809047 | CHRNA2 | c.1252G>T (p.Glu418Ter) c.1207G>T (p.Glu403Ter) n.290-1437G>T c.1186G>T (p.Glu396Ter) c.*654G>T (n.*654G>T) c.775G>T (p.Glu259Ter) c.658G>T (p.Glu220Ter) | gnomAD v4 |
| 8 | g.27463191C= | CA1772813583 | CHRNA2 | c.1252G= (p.Glu418=) c.1207G= (p.Glu403=) n.290-1437G= c.1186G= (p.Glu396=) c.*654G= (n.*654G=) c.775G= (p.Glu259=) c.658G= (p.Glu220=) | |
| 8 | g.27463191C>G | CA370809048 | CHRNA2 | c.1252G>C (p.Glu418Gln) c.1207G>C (p.Glu403Gln) n.290-1437G>C c.1186G>C (p.Glu396Gln) c.*654G>C (n.*654G>C) c.775G>C (p.Glu259Gln) c.658G>C (p.Glu220Gln) | |
| 8 | g.27463191C>T | CA4689491 | CHRNA2 | c.1252G>A (p.Glu418Lys) c.1207G>A (p.Glu403Lys) n.290-1437G>A c.1186G>A (p.Glu396Lys) c.*654G>A (n.*654G>A) c.775G>A (p.Glu259Lys) c.658G>A (p.Glu220Lys) | dbSNP ExAC gnomAD v2 |
| 8 | g.27463199_27463201del | CA2686678220 | CHRNA2 | c.1250_1252del (p.Val417del) c.1205_1207del (p.Val402del) n.290-1439_290-1437del c.1184_1186del (p.Val395del) c.*652_*654del (n.*652_*654del) c.773_775del (p.Val258del) c.656_658del (p.Val219del) | gnomAD v4 |
| 8 | g.27463192C>A | CA460186143 | CHRNA2 | c.1251G>T (p.Val417=) c.1206G>T (p.Val402=) n.290-1438G>T c.1185G>T (p.Val395=) c.*653G>T (n.*653G>T) c.774G>T (p.Val258=) c.657G>T (p.Val219=) | |
| 8 | g.27463192C>G | CA460186145 | CHRNA2 | c.1251G>C (p.Val417=) c.1206G>C (p.Val402=) n.290-1438G>C c.1185G>C (p.Val395=) c.*653G>C (n.*653G>C) c.774G>C (p.Val258=) c.657G>C (p.Val219=) | |
| 8 | g.27463192C>T | CA460186146 | CHRNA2 | c.1251G>A (p.Val417=) c.1206G>A (p.Val402=) n.290-1438G>A c.1185G>A (p.Val395=) c.*653G>A (n.*653G>A) c.774G>A (p.Val258=) c.657G>A (p.Val219=) | |
| 8 | g.27463193A= | CA1772813585 | CHRNA2 | c.1250T= (p.Val417=) c.1205T= (p.Val402=) n.290-1439T= c.1184T= (p.Val395=) c.*652T= (n.*652T=) c.773T= (p.Val258=) c.656T= (p.Val219=) | |
| 8 | g.27463193A>C | CA370809049 | CHRNA2 | c.1250T>G (p.Val417Gly) c.1205T>G (p.Val402Gly) n.290-1439T>G c.1184T>G (p.Val395Gly) c.*652T>G (n.*652T>G) c.773T>G (p.Val258Gly) c.656T>G (p.Val219Gly) | dbSNP |
| 8 | g.27463193A>G | CA4689492 | CHRNA2 | c.1250T>C (p.Val417Ala) c.1205T>C (p.Val402Ala) n.290-1439T>C c.1184T>C (p.Val395Ala) c.*652T>C (n.*652T>C) c.773T>C (p.Val258Ala) c.656T>C (p.Val219Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463193A>T | CA370809050 | CHRNA2 | c.1250T>A (p.Val417Glu) c.1205T>A (p.Val402Glu) n.290-1439T>A c.1184T>A (p.Val395Glu) c.*652T>A (n.*652T>A) c.773T>A (p.Val258Glu) c.656T>A (p.Val219Glu) | |
| 8 | g.27463194C>A | CA370809053 | CHRNA2 | c.1249G>T (p.Val417Leu) c.1204G>T (p.Val402Leu) n.290-1440G>T c.1183G>T (p.Val395Leu) c.*651G>T (n.*651G>T) c.772G>T (p.Val258Leu) c.655G>T (p.Val219Leu) | gnomAD v4 |
| 8 | g.27463194C>G | CA370809052 | CHRNA2 | c.1249G>C (p.Val417Leu) c.1204G>C (p.Val402Leu) n.290-1440G>C c.1183G>C (p.Val395Leu) c.*651G>C (n.*651G>C) c.772G>C (p.Val258Leu) c.655G>C (p.Val219Leu) | |
| 8 | g.27463194C>T | CA370809051 | CHRNA2 | c.1249G>A (p.Val417Met) c.1204G>A (p.Val402Met) n.290-1440G>A c.1183G>A (p.Val395Met) c.*651G>A (n.*651G>A) c.772G>A (p.Val258Met) c.655G>A (p.Val219Met) | |
| 8 | g.27463195C>A | CA460186149 | CHRNA2 | c.1248G>T (p.Val416=) c.1203G>T (p.Val401=) n.290-1441G>T c.1182G>T (p.Val394=) c.*650G>T (n.*650G>T) c.771G>T (p.Val257=) c.654G>T (p.Val218=) | gnomAD v4 |
| 8 | g.27463195C= | CA1772813589 | CHRNA2 | c.1248G= (p.Val416=) c.1203G= (p.Val401=) n.290-1441G= c.1182G= (p.Val394=) c.*650G= (n.*650G=) c.771G= (p.Val257=) c.654G= (p.Val218=) | |
| 8 | g.27463195C>G | CA4689493 | CHRNA2 | c.1248G>C (p.Val416=) c.1203G>C (p.Val401=) n.290-1441G>C c.1182G>C (p.Val394=) c.*650G>C (n.*650G>C) c.771G>C (p.Val257=) c.654G>C (p.Val218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463195C>T | CA460186147 | CHRNA2 | c.1248G>A (p.Val416=) c.1203G>A (p.Val401=) n.290-1441G>A c.1182G>A (p.Val394=) c.*650G>A (n.*650G>A) c.771G>A (p.Val257=) c.654G>A (p.Val218=) | ClinVar |
| 8 | g.27463196A>C | CA370809054 | CHRNA2 | c.1247T>G (p.Val416Gly) c.1202T>G (p.Val401Gly) n.290-1442T>G c.1181T>G (p.Val394Gly) c.*649T>G (n.*649T>G) c.770T>G (p.Val257Gly) c.653T>G (p.Val218Gly) | |
| 8 | g.27463196A>G | CA370809055 | CHRNA2 | c.1247T>C (p.Val416Ala) c.1202T>C (p.Val401Ala) n.290-1442T>C c.1181T>C (p.Val394Ala) c.*649T>C (n.*649T>C) c.770T>C (p.Val257Ala) c.653T>C (p.Val218Ala) | |
| 8 | g.27463196A>T | CA370809056 | CHRNA2 | c.1247T>A (p.Val416Glu) c.1202T>A (p.Val401Glu) n.290-1442T>A c.1181T>A (p.Val394Glu) c.*649T>A (n.*649T>A) c.770T>A (p.Val257Glu) c.653T>A (p.Val218Glu) | COSMIC |
| 8 | g.27463197C>A | CA370809057 | CHRNA2 | c.1246G>T (p.Val416Leu) c.1201G>T (p.Val401Leu) n.290-1443G>T c.1180G>T (p.Val394Leu) c.*648G>T (n.*648G>T) c.769G>T (p.Val257Leu) c.652G>T (p.Val218Leu) | |
| 8 | g.27463197C= | CA1772813592 | CHRNA2 | c.1246G= (p.Val416=) c.1201G= (p.Val401=) n.290-1443G= c.1180G= (p.Val394=) c.*648G= (n.*648G=) c.769G= (p.Val257=) c.652G= (p.Val218=) | |
| 8 | g.27463197C>G | CA370809059 | CHRNA2 | c.1246G>C (p.Val416Leu) c.1201G>C (p.Val401Leu) n.290-1443G>C c.1180G>C (p.Val394Leu) c.*648G>C (n.*648G>C) c.769G>C (p.Val257Leu) c.652G>C (p.Val218Leu) | |
| 8 | g.27463197C>T | CA370809060 | CHRNA2 | c.1246G>A (p.Val416Met) c.1201G>A (p.Val401Met) n.290-1443G>A c.1180G>A (p.Val394Met) c.*648G>A (n.*648G>A) c.769G>A (p.Val257Met) c.652G>A (p.Val218Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463198C>A | CA460186158 | CHRNA2 | c.1245G>T (p.Val415=) c.1200G>T (p.Val400=) n.290-1444G>T c.1179G>T (p.Val393=) c.*647G>T (n.*647G>T) c.768G>T (p.Val256=) c.651G>T (p.Val217=) | gnomAD v4 |
| 8 | g.27463198C= | CA1772813599 | CHRNA2 | c.1245G= (p.Val415=) c.1200G= (p.Val400=) n.290-1444G= c.1179G= (p.Val393=) c.*647G= (n.*647G=) c.768G= (p.Val256=) c.651G= (p.Val217=) | |
| 8 | g.27463198C>G | CA174241333 | CHRNA2 | c.1245G>C (p.Val415=) c.1200G>C (p.Val400=) n.290-1444G>C c.1179G>C (p.Val393=) c.*647G>C (n.*647G>C) c.768G>C (p.Val256=) c.651G>C (p.Val217=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463198C>T | CA4689494 | CHRNA2 | c.1245G>A (p.Val415=) c.1200G>A (p.Val400=) n.290-1444G>A c.1179G>A (p.Val393=) c.*647G>A (n.*647G>A) c.768G>A (p.Val256=) c.651G>A (p.Val217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463199A= | CA1772813602 | CHRNA2 | c.1244T= (p.Val415=) c.1199T= (p.Val400=) n.290-1445T= c.1178T= (p.Val393=) c.*646T= (n.*646T=) c.767T= (p.Val256=) c.650T= (p.Val217=) | |
| 8 | g.27463199A>C | CA370809062 | CHRNA2 | c.1244T>G (p.Val415Gly) c.1199T>G (p.Val400Gly) n.290-1445T>G c.1178T>G (p.Val393Gly) c.*646T>G (n.*646T>G) c.767T>G (p.Val256Gly) c.650T>G (p.Val217Gly) | |
| 8 | g.27463199A>G | CA174241336 | CHRNA2 | c.1244T>C (p.Val415Ala) c.1199T>C (p.Val400Ala) n.290-1445T>C c.1178T>C (p.Val393Ala) c.*646T>C (n.*646T>C) c.767T>C (p.Val256Ala) c.650T>C (p.Val217Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463199A>T | CA370809063 | CHRNA2 | c.1244T>A (p.Val415Glu) c.1199T>A (p.Val400Glu) n.290-1445T>A c.1178T>A (p.Val393Glu) c.*646T>A (n.*646T>A) c.767T>A (p.Val256Glu) c.650T>A (p.Val217Glu) | |
| 8 | g.27463200C>A | CA370809065 | CHRNA2 | c.1243G>T (p.Val415Leu) c.1198G>T (p.Val400Leu) n.290-1446G>T c.1177G>T (p.Val393Leu) c.*645G>T (n.*645G>T) c.766G>T (p.Val256Leu) c.649G>T (p.Val217Leu) | gnomAD v4 |
| 8 | g.27463200C= | CA1772813606 | CHRNA2 | c.1243G= (p.Val415=) c.1198G= (p.Val400=) n.290-1446G= c.1177G= (p.Val393=) c.*645G= (n.*645G=) c.766G= (p.Val256=) c.649G= (p.Val217=) | |
| 8 | g.27463200C>G | CA370809066 | CHRNA2 | c.1243G>C (p.Val415Leu) c.1198G>C (p.Val400Leu) n.290-1446G>C c.1177G>C (p.Val393Leu) c.*645G>C (n.*645G>C) c.766G>C (p.Val256Leu) c.649G>C (p.Val217Leu) | gnomAD v4 |
| 8 | g.27463200C>T | CA174241354 | CHRNA2 | c.1243G>A (p.Val415Met) c.1198G>A (p.Val400Met) n.290-1446G>A c.1177G>A (p.Val393Met) c.*645G>A (n.*645G>A) c.766G>A (p.Val256Met) c.649G>A (p.Val217Met) | ClinVar dbSNP |
| 8 | g.27463201C>A | CA370809068 | CHRNA2 | c.1242G>T (p.Glu414Asp) c.1197G>T (p.Glu399Asp) n.290-1447G>T c.1176G>T (p.Glu392Asp) c.*644G>T (n.*644G>T) c.765G>T (p.Glu255Asp) c.648G>T (p.Glu216Asp) | gnomAD v4 |
| 8 | g.27463201C>G | CA370809069 | CHRNA2 | c.1242G>C (p.Glu414Asp) c.1197G>C (p.Glu399Asp) n.290-1447G>C c.1176G>C (p.Glu392Asp) c.*644G>C (n.*644G>C) c.765G>C (p.Glu255Asp) c.648G>C (p.Glu216Asp) | |
| 8 | g.27463201C>T | CA460186167 | CHRNA2 | c.1242G>A (p.Glu414=) c.1197G>A (p.Glu399=) n.290-1447G>A c.1176G>A (p.Glu392=) c.*644G>A (n.*644G>A) c.765G>A (p.Glu255=) c.648G>A (p.Glu216=) | gnomAD v4 |
| 8 | g.27463202T>A | CA370809070 | CHRNA2 | c.1241A>T (p.Glu414Val) c.1196A>T (p.Glu399Val) n.290-1448A>T c.1175A>T (p.Glu392Val) c.*643A>T (n.*643A>T) c.764A>T (p.Glu255Val) c.647A>T (p.Glu216Val) | |
| 8 | g.27463202T>C | CA370809071 | CHRNA2 | c.1241A>G (p.Glu414Gly) c.1196A>G (p.Glu399Gly) n.290-1448A>G c.1175A>G (p.Glu392Gly) c.*643A>G (n.*643A>G) c.764A>G (p.Glu255Gly) c.647A>G (p.Glu216Gly) | |
| 8 | g.27463202T>G | CA370809073 | CHRNA2 | c.1241A>C (p.Glu414Ala) c.1196A>C (p.Glu399Ala) n.290-1448A>C c.1175A>C (p.Glu392Ala) c.*643A>C (n.*643A>C) c.764A>C (p.Glu255Ala) c.647A>C (p.Glu216Ala) | |
| 8 | g.27463202_27463203delinsTC | CA1772813610 | CHRNA2 | c.1240_1241delinsGA (p.Glu414=) c.1195_1196delinsGA (p.Glu399=) n.290-1449_290-1448delinsGA c.1174_1175delinsGA (p.Glu392=) c.*642_*643delinsGA (n.*642_*643delinsGA) c.763_764delinsGA (p.Glu255=) c.646_647delinsGA (p.Glu216=) | |
| 8 | g.27463203C>A | CA370809074 | CHRNA2 | c.1240G>T (p.Glu414Ter) c.1195G>T (p.Glu399Ter) n.290-1449G>T c.1174G>T (p.Glu392Ter) c.*642G>T (n.*642G>T) c.763G>T (p.Glu255Ter) c.646G>T (p.Glu216Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463203C= | CA1772813617 | CHRNA2 | c.1240G= (p.Glu414=) c.1195G= (p.Glu399=) n.290-1449G= c.1174G= (p.Glu392=) c.*642G= (n.*642G=) c.763G= (p.Glu255=) c.646G= (p.Glu216=) | |
| 8 | g.27463203C>G | CA370809076 | CHRNA2 | c.1240G>C (p.Glu414Gln) c.1195G>C (p.Glu399Gln) n.290-1449G>C c.1174G>C (p.Glu392Gln) c.*642G>C (n.*642G>C) c.763G>C (p.Glu255Gln) c.646G>C (p.Glu216Gln) | |
| 8 | g.27463203C>T | CA174241360 | CHRNA2 | c.1240G>A (p.Glu414Lys) c.1195G>A (p.Glu399Lys) n.290-1449G>A c.1174G>A (p.Glu392Lys) c.*642G>A (n.*642G>A) c.763G>A (p.Glu255Lys) c.646G>A (p.Glu216Lys) | ClinVar dbSNP COSMIC |
| 8 | g.27463205del | CA460186172 | CHRNA2 | c.1240del (p.Glu414ArgfsTer?) c.1195del (p.Glu399ArgfsTer?) n.290-1449del c.1174del (p.Glu392ArgfsTer?) c.*642del (n.*642del) c.763del (p.Glu255ArgfsTer?) c.646del (p.Glu216ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463204C>A | CA370809078 | CHRNA2 | c.1239G>T (p.Arg413Ser) c.1194G>T (p.Arg398Ser) n.290-1450G>T c.1173G>T (p.Arg391Ser) c.*641G>T (n.*641G>T) c.762G>T (p.Arg254Ser) c.645G>T (p.Arg215Ser) | |
| 8 | g.27463204C= | CA1772813621 | CHRNA2 | c.1239G= (p.Arg413=) c.1194G= (p.Arg398=) n.290-1450G= c.1173G= (p.Arg391=) c.*641G= (n.*641G=) c.762G= (p.Arg254=) c.645G= (p.Arg215=) | |
| 8 | g.27463204C>G | CA370809080 | CHRNA2 | c.1239G>C (p.Arg413Ser) c.1194G>C (p.Arg398Ser) n.290-1450G>C c.1173G>C (p.Arg391Ser) c.*641G>C (n.*641G>C) c.762G>C (p.Arg254Ser) c.645G>C (p.Arg215Ser) | |
| 8 | g.27463204C>T | CA174241366 | CHRNA2 | c.1239G>A (p.Arg413=) c.1194G>A (p.Arg398=) n.290-1450G>A c.1173G>A (p.Arg391=) c.*641G>A (n.*641G>A) c.762G>A (p.Arg254=) c.645G>A (p.Arg215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463204_27463205delinsTT | CA645550782 | CHRNA2 | c.1238_1239delinsAA (p.Arg413Lys) c.1193_1194delinsAA (p.Arg398Lys) n.290-1451_290-1450delinsAA c.1172_1173delinsAA (p.Arg391Lys) c.*640_*641delinsAA (n.*640_*641delinsAA) c.761_762delinsAA (p.Arg254Lys) c.644_645delinsAA (p.Arg215Lys) | COSMIC |
| 8 | g.27463205C>A | CA370809082 | CHRNA2 | c.1238G>T (p.Arg413Met) c.1193G>T (p.Arg398Met) n.290-1451G>T c.1172G>T (p.Arg391Met) c.*640G>T (n.*640G>T) c.761G>T (p.Arg254Met) c.644G>T (p.Arg215Met) | gnomAD v4 |
| 8 | g.27463205C= | CA1772813623 | CHRNA2 | c.1238G= (p.Arg413=) c.1193G= (p.Arg398=) n.290-1451G= c.1172G= (p.Arg391=) c.*640G= (n.*640G=) c.761G= (p.Arg254=) c.644G= (p.Arg215=) | |
| 8 | g.27463205C>G | CA370809083 | CHRNA2 | c.1238G>C (p.Arg413Thr) c.1193G>C (p.Arg398Thr) n.290-1451G>C c.1172G>C (p.Arg391Thr) c.*640G>C (n.*640G>C) c.761G>C (p.Arg254Thr) c.644G>C (p.Arg215Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463205C>T | CA370809084 | CHRNA2 | c.1238G>A (p.Arg413Lys) c.1193G>A (p.Arg398Lys) n.290-1451G>A c.1172G>A (p.Arg391Lys) c.*640G>A (n.*640G>A) c.761G>A (p.Arg254Lys) c.644G>A (p.Arg215Lys) | |
| 8 | g.27463206T>A | CA370809085 | CHRNA2 | c.1237A>T (p.Arg413Trp) c.1192A>T (p.Arg398Trp) n.290-1452A>T c.1171A>T (p.Arg391Trp) c.*639A>T (n.*639A>T) c.760A>T (p.Arg254Trp) c.643A>T (p.Arg215Trp) | |
| 8 | g.27463206T>C | CA370809086 | CHRNA2 | c.1237A>G (p.Arg413Gly) c.1192A>G (p.Arg398Gly) n.290-1452A>G c.1171A>G (p.Arg391Gly) c.*639A>G (n.*639A>G) c.760A>G (p.Arg254Gly) c.643A>G (p.Arg215Gly) | |
| 8 | g.27463206T>G | CA460186175 | CHRNA2 | c.1237A>C (p.Arg413=) c.1192A>C (p.Arg398=) n.290-1452A>C c.1171A>C (p.Arg391=) c.*639A>C (n.*639A>C) c.760A>C (p.Arg254=) c.643A>C (p.Arg215=) | |
| 8 | g.27463207C>A | CA370809087 | CHRNA2 | c.1236G>T (p.Glu412Asp) c.1191G>T (p.Glu397Asp) n.290-1453G>T c.1170G>T (p.Glu390Asp) c.*638G>T (n.*638G>T) c.759G>T (p.Glu253Asp) c.642G>T (p.Glu214Asp) | |
| 8 | g.27463207C= | CA1772813625 | CHRNA2 | c.1236G= (p.Glu412=) c.1191G= (p.Glu397=) n.290-1453G= c.1170G= (p.Glu390=) c.*638G= (n.*638G=) c.759G= (p.Glu253=) c.642G= (p.Glu214=) | |
| 8 | g.27463207C>G | CA4689495 | CHRNA2 | c.1236G>C (p.Glu412Asp) c.1191G>C (p.Glu397Asp) n.290-1453G>C c.1170G>C (p.Glu390Asp) c.*638G>C (n.*638G>C) c.759G>C (p.Glu253Asp) c.642G>C (p.Glu214Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463207C>T | CA4689496 | CHRNA2 | c.1236G>A (p.Glu412=) c.1191G>A (p.Glu397=) n.290-1453G>A c.1170G>A (p.Glu390=) c.*638G>A (n.*638G>A) c.759G>A (p.Glu253=) c.642G>A (p.Glu214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463210_27463212del | CA2686678221 | CHRNA2 | c.1234_1236del (p.Glu412del) c.1189_1191del (p.Glu397del) n.290-1455_290-1453del c.1168_1170del (p.Glu390del) c.*636_*638del (n.*636_*638del) c.757_759del (p.Glu253del) c.640_642del (p.Glu214del) | gnomAD v4 |
| 8 | g.27463208T>A | CA370809088 | CHRNA2 | c.1235A>T (p.Glu412Val) c.1190A>T (p.Glu397Val) n.290-1454A>T c.1169A>T (p.Glu390Val) c.*637A>T (n.*637A>T) c.758A>T (p.Glu253Val) c.641A>T (p.Glu214Val) | |
| 8 | g.27463208T>C | CA370809089 | CHRNA2 | c.1235A>G (p.Glu412Gly) c.1190A>G (p.Glu397Gly) n.290-1454A>G c.1169A>G (p.Glu390Gly) c.*637A>G (n.*637A>G) c.758A>G (p.Glu253Gly) c.641A>G (p.Glu214Gly) | |
| 8 | g.27463208T>G | CA370809090 | CHRNA2 | c.1235A>C (p.Glu412Ala) c.1190A>C (p.Glu397Ala) n.290-1454A>C c.1169A>C (p.Glu390Ala) c.*637A>C (n.*637A>C) c.758A>C (p.Glu253Ala) c.641A>C (p.Glu214Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463208T= | CA1772813629 | CHRNA2 | c.1235A= (p.Glu412=) c.1190A= (p.Glu397=) n.290-1454A= c.1169A= (p.Glu390=) c.*637A= (n.*637A=) c.758A= (p.Glu253=) c.641A= (p.Glu214=) | |
| 8 | g.27463209C>A | CA370809091 | CHRNA2 | c.1234G>T (p.Glu412Ter) c.1189G>T (p.Glu397Ter) n.290-1455G>T c.1168G>T (p.Glu390Ter) c.*636G>T (n.*636G>T) c.757G>T (p.Glu253Ter) c.640G>T (p.Glu214Ter) | |
| 8 | g.27463209C= | CA1772813635 | CHRNA2 | c.1234G= (p.Glu412=) c.1189G= (p.Glu397=) n.290-1455G= c.1168G= (p.Glu390=) c.*636G= (n.*636G=) c.757G= (p.Glu253=) c.640G= (p.Glu214=) | |
| 8 | g.27463209C>G | CA370809093 | CHRNA2 | c.1234G>C (p.Glu412Gln) c.1189G>C (p.Glu397Gln) n.290-1455G>C c.1168G>C (p.Glu390Gln) c.*636G>C (n.*636G>C) c.757G>C (p.Glu253Gln) c.640G>C (p.Glu214Gln) | |
| 8 | g.27463209C>T | CA231028 | CHRNA2 | c.1234G>A (p.Glu412Lys) c.1189G>A (p.Glu397Lys) n.290-1455G>A c.1168G>A (p.Glu390Lys) c.*636G>A (n.*636G>A) c.757G>A (p.Glu253Lys) c.640G>A (p.Glu214Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463210C>A | CA370809095 | CHRNA2 | c.1233G>T (p.Glu411Asp) c.1188G>T (p.Glu396Asp) n.290-1456G>T c.1167G>T (p.Glu389Asp) c.*635G>T (n.*635G>T) c.756G>T (p.Glu252Asp) c.639G>T (p.Glu213Asp) | |
| 8 | g.27463210C>G | CA370809096 | CHRNA2 | c.1233G>C (p.Glu411Asp) c.1188G>C (p.Glu396Asp) n.290-1456G>C c.1167G>C (p.Glu389Asp) c.*635G>C (n.*635G>C) c.756G>C (p.Glu252Asp) c.639G>C (p.Glu213Asp) | |
| 8 | g.27463210C>T | CA460186183 | CHRNA2 | c.1233G>A (p.Glu411=) c.1188G>A (p.Glu396=) n.290-1456G>A c.1167G>A (p.Glu389=) c.*635G>A (n.*635G>A) c.756G>A (p.Glu252=) c.639G>A (p.Glu213=) | |
| 8 | g.27463210_27463213del | CA2579127523 | CHRNA2 | c.1230_1233del (p.Glu411ArgfsTer?) c.1185_1188del (p.Glu396ArgfsTer?) n.290-1459_290-1456del c.1164_1167del (p.Glu389ArgfsTer?) c.*632_*635del (n.*632_*635del) c.753_756del (p.Glu252ArgfsTer?) c.636_639del (p.Glu213ArgfsTer?) | |
| 8 | g.27463211T>A | CA370809099 | CHRNA2 | c.1232A>T (p.Glu411Val) c.1187A>T (p.Glu396Val) n.290-1457A>T c.1166A>T (p.Glu389Val) c.*634A>T (n.*634A>T) c.755A>T (p.Glu252Val) c.638A>T (p.Glu213Val) | |
| 8 | g.27463211T>C | CA370809100 | CHRNA2 | c.1232A>G (p.Glu411Gly) c.1187A>G (p.Glu396Gly) n.290-1457A>G c.1166A>G (p.Glu389Gly) c.*634A>G (n.*634A>G) c.755A>G (p.Glu252Gly) c.638A>G (p.Glu213Gly) | |
| 8 | g.27463211T>G | CA370809097 | CHRNA2 | c.1232A>C (p.Glu411Ala) c.1187A>C (p.Glu396Ala) n.290-1457A>C c.1166A>C (p.Glu389Ala) c.*634A>C (n.*634A>C) c.755A>C (p.Glu252Ala) c.638A>C (p.Glu213Ala) | |
| 8 | g.27463212C>A | CA370809102 | CHRNA2 | c.1231G>T (p.Glu411Ter) c.1186G>T (p.Glu396Ter) n.290-1458G>T c.1165G>T (p.Glu389Ter) c.*633G>T (n.*633G>T) c.754G>T (p.Glu252Ter) c.637G>T (p.Glu213Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463212C= | CA1772813641 | CHRNA2 | c.1231G= (p.Glu411=) c.1186G= (p.Glu396=) n.290-1458G= c.1165G= (p.Glu389=) c.*633G= (n.*633G=) c.754G= (p.Glu252=) c.637G= (p.Glu213=) | |
| 8 | g.27463212C>G | CA370809104 | CHRNA2 | c.1231G>C (p.Glu411Gln) c.1186G>C (p.Glu396Gln) n.290-1458G>C c.1165G>C (p.Glu389Gln) c.*633G>C (n.*633G>C) c.754G>C (p.Glu252Gln) c.637G>C (p.Glu213Gln) | |
| 8 | g.27463212C>T | CA370809105 | CHRNA2 | c.1231G>A (p.Glu411Lys) c.1186G>A (p.Glu396Lys) n.290-1458G>A c.1165G>A (p.Glu389Lys) c.*633G>A (n.*633G>A) c.754G>A (p.Glu252Lys) c.637G>A (p.Glu213Lys) | dbSNP gnomAD v4 |
| 8 | g.27463213G>A | CA460186189 | CHRNA2 | c.1230C>T (p.Ala410=) c.1185C>T (p.Ala395=) n.290-1459C>T c.1164C>T (p.Ala388=) c.*632C>T (n.*632C>T) c.753C>T (p.Ala251=) c.636C>T (p.Ala212=) | ClinVar gnomAD v4 |
| 8 | g.27463213G>C | CA460186191 | CHRNA2 | c.1230C>G (p.Ala410=) c.1185C>G (p.Ala395=) n.290-1459C>G c.1164C>G (p.Ala388=) c.*632C>G (n.*632C>G) c.753C>G (p.Ala251=) c.636C>G (p.Ala212=) | gnomAD v4 |
| 8 | g.27463213G>T | CA460186192 | CHRNA2 | c.1230C>A (p.Ala410=) c.1185C>A (p.Ala395=) n.290-1459C>A c.1164C>A (p.Ala388=) c.*632C>A (n.*632C>A) c.753C>A (p.Ala251=) c.636C>A (p.Ala212=) | |
| 8 | g.27463214G>A | CA370809106 | CHRNA2 | c.1229C>T (p.Ala410Val) c.1184C>T (p.Ala395Val) n.290-1460C>T c.1163C>T (p.Ala388Val) c.*631C>T (n.*631C>T) c.752C>T (p.Ala251Val) c.635C>T (p.Ala212Val) | ClinVar gnomAD v4 |
| 8 | g.27463214G>C | CA370809108 | CHRNA2 | c.1229C>G (p.Ala410Gly) c.1184C>G (p.Ala395Gly) n.290-1460C>G c.1163C>G (p.Ala388Gly) c.*631C>G (n.*631C>G) c.752C>G (p.Ala251Gly) c.635C>G (p.Ala212Gly) | |
| 8 | g.27463214G>T | CA370809109 | CHRNA2 | c.1229C>A (p.Ala410Asp) c.1184C>A (p.Ala395Asp) n.290-1460C>A c.1163C>A (p.Ala388Asp) c.*631C>A (n.*631C>A) c.752C>A (p.Ala251Asp) c.635C>A (p.Ala212Asp) | |
| 8 | g.27463215C>A | CA370809114 | CHRNA2 | c.1228G>T (p.Ala410Ser) c.1183G>T (p.Ala395Ser) n.290-1461G>T c.1162G>T (p.Ala388Ser) c.*630G>T (n.*630G>T) c.751G>T (p.Ala251Ser) c.634G>T (p.Ala212Ser) | gnomAD v4 |
| 8 | g.27463215C>G | CA370809111 | CHRNA2 | c.1228G>C (p.Ala410Pro) c.1183G>C (p.Ala395Pro) n.290-1461G>C c.1162G>C (p.Ala388Pro) c.*630G>C (n.*630G>C) c.751G>C (p.Ala251Pro) c.634G>C (p.Ala212Pro) | |
| 8 | g.27463215C>T | CA370809113 | CHRNA2 | c.1228G>A (p.Ala410Thr) c.1183G>A (p.Ala395Thr) n.290-1461G>A c.1162G>A (p.Ala388Thr) c.*630G>A (n.*630G>A) c.751G>A (p.Ala251Thr) c.634G>A (p.Ala212Thr) | |
| 8 | g.27463216A>C | CA370809115 | CHRNA2 | c.1227T>G (p.Asp409Glu) c.1182T>G (p.Asp394Glu) n.290-1462T>G c.1161T>G (p.Asp387Glu) c.*629T>G (n.*629T>G) c.750T>G (p.Asp250Glu) c.633T>G (p.Asp211Glu) | |
| 8 | g.27463216A>G | CA460186200 | CHRNA2 | c.1227T>C (p.Asp409=) c.1182T>C (p.Asp394=) n.290-1462T>C c.1161T>C (p.Asp387=) c.*629T>C (n.*629T>C) c.750T>C (p.Asp250=) c.633T>C (p.Asp211=) | |
| 8 | g.27463216A>T | CA370809117 | CHRNA2 | c.1227T>A (p.Asp409Glu) c.1182T>A (p.Asp394Glu) n.290-1462T>A c.1161T>A (p.Asp387Glu) c.*629T>A (n.*629T>A) c.750T>A (p.Asp250Glu) c.633T>A (p.Asp211Glu) | gnomAD v4 |
| 8 | g.27463217T>A | CA370809118 | CHRNA2 | c.1226A>T (p.Asp409Val) c.1181A>T (p.Asp394Val) n.290-1463A>T c.1160A>T (p.Asp387Val) c.*628A>T (n.*628A>T) c.749A>T (p.Asp250Val) c.632A>T (p.Asp211Val) | gnomAD v4 |
| 8 | g.27463217T>C | CA370809120 | CHRNA2 | c.1226A>G (p.Asp409Gly) c.1181A>G (p.Asp394Gly) n.290-1463A>G c.1160A>G (p.Asp387Gly) c.*628A>G (n.*628A>G) c.749A>G (p.Asp250Gly) c.632A>G (p.Asp211Gly) | |
| 8 | g.27463217T>G | CA370809121 | CHRNA2 | c.1226A>C (p.Asp409Ala) c.1181A>C (p.Asp394Ala) n.290-1463A>C c.1160A>C (p.Asp387Ala) c.*628A>C (n.*628A>C) c.749A>C (p.Asp250Ala) c.632A>C (p.Asp211Ala) | |
| 8 | g.27463218C>A | CA370809123 | CHRNA2 | c.1225G>T (p.Asp409Tyr) c.1180G>T (p.Asp394Tyr) n.290-1464G>T c.1159G>T (p.Asp387Tyr) c.*627G>T (n.*627G>T) c.748G>T (p.Asp250Tyr) c.631G>T (p.Asp211Tyr) | |
| 8 | g.27463218C>G | CA370809126 | CHRNA2 | c.1225G>C (p.Asp409His) c.1180G>C (p.Asp394His) n.290-1464G>C c.1159G>C (p.Asp387His) c.*627G>C (n.*627G>C) c.748G>C (p.Asp250His) c.631G>C (p.Asp211His) | |
| 8 | g.27463218C>T | CA370809124 | CHRNA2 | c.1225G>A (p.Asp409Asn) c.1180G>A (p.Asp394Asn) n.290-1464G>A c.1159G>A (p.Asp387Asn) c.*627G>A (n.*627G>A) c.748G>A (p.Asp250Asn) c.631G>A (p.Asp211Asn) | gnomAD v4 |
| 8 | g.27463219C>A | CA460186204 | CHRNA2 | c.1224G>T (p.Val408=) c.1179G>T (p.Val393=) n.290-1465G>T c.1158G>T (p.Val386=) c.*626G>T (n.*626G>T) c.747G>T (p.Val249=) c.630G>T (p.Val210=) | gnomAD v4 |
| 8 | g.27463219C>G | CA460186205 | CHRNA2 | c.1224G>C (p.Val408=) c.1179G>C (p.Val393=) n.290-1465G>C c.1158G>C (p.Val386=) c.*626G>C (n.*626G>C) c.747G>C (p.Val249=) c.630G>C (p.Val210=) | |
| 8 | g.27463219C>T | CA460186206 | CHRNA2 | c.1224G>A (p.Val408=) c.1179G>A (p.Val393=) n.290-1465G>A c.1158G>A (p.Val386=) c.*626G>A (n.*626G>A) c.747G>A (p.Val249=) c.630G>A (p.Val210=) | |
| 8 | g.27463220A= | CA1772813645 | CHRNA2 | c.1223T= (p.Val408=) c.1178T= (p.Val393=) n.290-1466T= c.1157T= (p.Val386=) c.*625T= (n.*625T=) c.746T= (p.Val249=) c.629T= (p.Val210=) | |
| 8 | g.27463220A>C | CA370809128 | CHRNA2 | c.1223T>G (p.Val408Gly) c.1178T>G (p.Val393Gly) n.290-1466T>G c.1157T>G (p.Val386Gly) c.*625T>G (n.*625T>G) c.746T>G (p.Val249Gly) c.629T>G (p.Val210Gly) | |
| 8 | g.27463220A>G | CA4689497 | CHRNA2 | c.1223T>C (p.Val408Ala) c.1178T>C (p.Val393Ala) n.290-1466T>C c.1157T>C (p.Val386Ala) c.*625T>C (n.*625T>C) c.746T>C (p.Val249Ala) c.629T>C (p.Val210Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463220A>T | CA370809130 | CHRNA2 | c.1223T>A (p.Val408Glu) c.1178T>A (p.Val393Glu) n.290-1466T>A c.1157T>A (p.Val386Glu) c.*625T>A (n.*625T>A) c.746T>A (p.Val249Glu) c.629T>A (p.Val210Glu) | |
| 8 | g.27463221C>A | CA370809132 | CHRNA2 | c.1222G>T (p.Val408Leu) c.1177G>T (p.Val393Leu) n.290-1467G>T c.1156G>T (p.Val386Leu) c.*624G>T (n.*624G>T) c.745G>T (p.Val249Leu) c.628G>T (p.Val210Leu) | gnomAD v4 |
| 8 | g.27463221C= | CA1772813653 | CHRNA2 | c.1222G= (p.Val408=) c.1177G= (p.Val393=) n.290-1467G= c.1156G= (p.Val386=) c.*624G= (n.*624G=) c.745G= (p.Val249=) c.628G= (p.Val210=) | |
| 8 | g.27463221C>G | CA313419 | CHRNA2 | c.1222G>C (p.Val408Leu) c.1177G>C (p.Val393Leu) n.290-1467G>C c.1156G>C (p.Val386Leu) c.*624G>C (n.*624G>C) c.745G>C (p.Val249Leu) c.628G>C (p.Val210Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463221C>T | CA370809133 | CHRNA2 | c.1222G>A (p.Val408Met) c.1177G>A (p.Val393Met) n.290-1467G>A c.1156G>A (p.Val386Met) c.*624G>A (n.*624G>A) c.745G>A (p.Val249Met) c.628G>A (p.Val210Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463222G>A | CA4689498 | CHRNA2 | c.1221C>T (p.Asn407=) c.1176C>T (p.Asn392=) n.290-1468C>T c.1155C>T (p.Asn385=) c.*623C>T (n.*623C>T) c.744C>T (p.Asn248=) c.627C>T (p.Asn209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463222G>C | CA370809135 | CHRNA2 | c.1221C>G (p.Asn407Lys) c.1176C>G (p.Asn392Lys) n.290-1468C>G c.1155C>G (p.Asn385Lys) c.*623C>G (n.*623C>G) c.744C>G (p.Asn248Lys) c.627C>G (p.Asn209Lys) | |
| 8 | g.27463222G= | CA1772813658 | CHRNA2 | c.1221C= (p.Asn407=) c.1176C= (p.Asn392=) n.290-1468C= c.1155C= (p.Asn385=) c.*623C= (n.*623C=) c.744C= (p.Asn248=) c.627C= (p.Asn209=) | |
| 8 | g.27463222G>T | CA370809137 | CHRNA2 | c.1221C>A (p.Asn407Lys) c.1176C>A (p.Asn392Lys) n.290-1468C>A c.1155C>A (p.Asn385Lys) c.*623C>A (n.*623C>A) c.744C>A (p.Asn248Lys) c.627C>A (p.Asn209Lys) | gnomAD v4 |
| 8 | g.27463223T>A | CA4689499 | CHRNA2 | c.1220A>T (p.Asn407Ile) c.1175A>T (p.Asn392Ile) n.290-1469A>T c.1154A>T (p.Asn385Ile) c.*622A>T (n.*622A>T) c.743A>T (p.Asn248Ile) c.626A>T (p.Asn209Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463223T>C | CA370809139 | CHRNA2 | c.1220A>G (p.Asn407Ser) c.1175A>G (p.Asn392Ser) n.290-1469A>G c.1154A>G (p.Asn385Ser) c.*622A>G (n.*622A>G) c.743A>G (p.Asn248Ser) c.626A>G (p.Asn209Ser) | |
| 8 | g.27463223T>G | CA370809141 | CHRNA2 | c.1220A>C (p.Asn407Thr) c.1175A>C (p.Asn392Thr) n.290-1469A>C c.1154A>C (p.Asn385Thr) c.*622A>C (n.*622A>C) c.743A>C (p.Asn248Thr) c.626A>C (p.Asn209Thr) | |
| 8 | g.27463223T= | CA1772813662 | CHRNA2 | c.1220A= (p.Asn407=) c.1175A= (p.Asn392=) n.290-1469A= c.1154A= (p.Asn385=) c.*622A= (n.*622A=) c.743A= (p.Asn248=) c.626A= (p.Asn209=) | |
| 8 | g.27463224T>A | CA370809144 | CHRNA2 | c.1219A>T (p.Asn407Tyr) c.1174A>T (p.Asn392Tyr) n.290-1470A>T c.1153A>T (p.Asn385Tyr) c.*621A>T (n.*621A>T) c.742A>T (p.Asn248Tyr) c.625A>T (p.Asn209Tyr) | |
| 8 | g.27463224T>C | CA370809145 | CHRNA2 | c.1219A>G (p.Asn407Asp) c.1174A>G (p.Asn392Asp) n.290-1470A>G c.1153A>G (p.Asn385Asp) c.*621A>G (n.*621A>G) c.742A>G (p.Asn248Asp) c.625A>G (p.Asn209Asp) | |
| 8 | g.27463224T>G | CA370809142 | CHRNA2 | c.1219A>C (p.Asn407His) c.1174A>C (p.Asn392His) n.290-1470A>C c.1153A>C (p.Asn385His) c.*621A>C (n.*621A>C) c.742A>C (p.Asn248His) c.625A>C (p.Asn209His) | |
| 8 | g.27463225G>A | CA460186217 | CHRNA2 | c.1218C>T (p.Ser406=) c.1173C>T (p.Ser391=) n.290-1471C>T c.1152C>T (p.Ser384=) c.*620C>T (n.*620C>T) c.741C>T (p.Ser247=) c.624C>T (p.Ser208=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463225G>C | CA4689500 | CHRNA2 | c.1218C>G (p.Ser406Arg) c.1173C>G (p.Ser391Arg) n.290-1471C>G c.1152C>G (p.Ser384Arg) c.*620C>G (n.*620C>G) c.741C>G (p.Ser247Arg) c.624C>G (p.Ser208Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463225G= | CA1772813668 | CHRNA2 | c.1218C= (p.Ser406=) c.1173C= (p.Ser391=) n.290-1471C= c.1152C= (p.Ser384=) c.*620C= (n.*620C=) c.741C= (p.Ser247=) c.624C= (p.Ser208=) | |
| 8 | g.27463225G>T | CA370809146 | CHRNA2 | c.1218C>A (p.Ser406Arg) c.1173C>A (p.Ser391Arg) n.290-1471C>A c.1152C>A (p.Ser384Arg) c.*620C>A (n.*620C>A) c.741C>A (p.Ser247Arg) c.624C>A (p.Ser208Arg) | |
| 8 | g.27463226C>A | CA370809151 | CHRNA2 | c.1217G>T (p.Ser406Ile) c.1172G>T (p.Ser391Ile) n.290-1472G>T c.1151G>T (p.Ser384Ile) c.*619G>T (n.*619G>T) c.740G>T (p.Ser247Ile) c.623G>T (p.Ser208Ile) | gnomAD v4 |
| 8 | g.27463226C= | CA1772813672 | CHRNA2 | c.1217G= (p.Ser406=) c.1172G= (p.Ser391=) n.290-1472G= c.1151G= (p.Ser384=) c.*619G= (n.*619G=) c.740G= (p.Ser247=) c.623G= (p.Ser208=) | |
| 8 | g.27463226C>G | CA370809148 | CHRNA2 | c.1217G>C (p.Ser406Thr) c.1172G>C (p.Ser391Thr) n.290-1472G>C c.1151G>C (p.Ser384Thr) c.*619G>C (n.*619G>C) c.740G>C (p.Ser247Thr) c.623G>C (p.Ser208Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463226C>T | CA370809149 | CHRNA2 | c.1217G>A (p.Ser406Asn) c.1172G>A (p.Ser391Asn) n.290-1472G>A c.1151G>A (p.Ser384Asn) c.*619G>A (n.*619G>A) c.740G>A (p.Ser247Asn) c.623G>A (p.Ser208Asn) | COSMIC |
| 8 | g.27463227T>A | CA370809152 | CHRNA2 | c.1216A>T (p.Ser406Cys) c.1171A>T (p.Ser391Cys) n.290-1473A>T c.1150A>T (p.Ser384Cys) c.*618A>T (n.*618A>T) c.739A>T (p.Ser247Cys) c.622A>T (p.Ser208Cys) | |
| 8 | g.27463227T>C | CA370809154 | CHRNA2 | c.1216A>G (p.Ser406Gly) c.1171A>G (p.Ser391Gly) n.290-1473A>G c.1150A>G (p.Ser384Gly) c.*618A>G (n.*618A>G) c.739A>G (p.Ser247Gly) c.622A>G (p.Ser208Gly) | gnomAD v4 |
| 8 | g.27463227T>G | CA370809155 | CHRNA2 | c.1216A>C (p.Ser406Arg) c.1171A>C (p.Ser391Arg) n.290-1473A>C c.1150A>C (p.Ser384Arg) c.*618A>C (n.*618A>C) c.739A>C (p.Ser247Arg) c.622A>C (p.Ser208Arg) | |
| 8 | g.27463228C>A | CA370809156 | CHRNA2 | c.1215G>T (p.Glu405Asp) c.1170G>T (p.Glu390Asp) n.290-1474G>T c.1149G>T (p.Glu383Asp) c.*617G>T (n.*617G>T) c.738G>T (p.Glu246Asp) c.621G>T (p.Glu207Asp) | |
| 8 | g.27463228C= | CA1772813676 | CHRNA2 | c.1215G= (p.Glu405=) c.1170G= (p.Glu390=) n.290-1474G= c.1149G= (p.Glu383=) c.*617G= (n.*617G=) c.738G= (p.Glu246=) c.621G= (p.Glu207=) | |
| 8 | g.27463228C>G | CA370809158 | CHRNA2 | c.1215G>C (p.Glu405Asp) c.1170G>C (p.Glu390Asp) n.290-1474G>C c.1149G>C (p.Glu383Asp) c.*617G>C (n.*617G>C) c.738G>C (p.Glu246Asp) c.621G>C (p.Glu207Asp) | |
| 8 | g.27463228C>T | CA174241435 | CHRNA2 | c.1215G>A (p.Glu405=) c.1170G>A (p.Glu390=) n.290-1474G>A c.1149G>A (p.Glu383=) c.*617G>A (n.*617G>A) c.738G>A (p.Glu246=) c.621G>A (p.Glu207=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463229T>A | CA370809159 | CHRNA2 | c.1214A>T (p.Glu405Val) c.1169A>T (p.Glu390Val) n.290-1475A>T c.1148A>T (p.Glu383Val) c.*616A>T (n.*616A>T) c.737A>T (p.Glu246Val) c.620A>T (p.Glu207Val) | |
| 8 | g.27463229T>C | CA4689501 | CHRNA2 | c.1214A>G (p.Glu405Gly) c.1169A>G (p.Glu390Gly) n.290-1475A>G c.1148A>G (p.Glu383Gly) c.*616A>G (n.*616A>G) c.737A>G (p.Glu246Gly) c.620A>G (p.Glu207Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463229T>G | CA370809161 | CHRNA2 | c.1214A>C (p.Glu405Ala) c.1169A>C (p.Glu390Ala) n.290-1475A>C c.1148A>C (p.Glu383Ala) c.*616A>C (n.*616A>C) c.737A>C (p.Glu246Ala) c.620A>C (p.Glu207Ala) | gnomAD v4 |
| 8 | g.27463229T= | CA1772813680 | CHRNA2 | c.1214A= (p.Glu405=) c.1169A= (p.Glu390=) n.290-1475A= c.1148A= (p.Glu383=) c.*616A= (n.*616A=) c.737A= (p.Glu246=) c.620A= (p.Glu207=) | |
| 8 | g.27463230C>A | CA370809162 | CHRNA2 | c.1213G>T (p.Glu405Ter) c.1168G>T (p.Glu390Ter) n.290-1476G>T c.1147G>T (p.Glu383Ter) c.*615G>T (n.*615G>T) c.736G>T (p.Glu246Ter) c.619G>T (p.Glu207Ter) | |
| 8 | g.27463230C= | CA1772813683 | CHRNA2 | c.1213G= (p.Glu405=) c.1168G= (p.Glu390=) n.290-1476G= c.1147G= (p.Glu383=) c.*615G= (n.*615G=) c.736G= (p.Glu246=) c.619G= (p.Glu207=) | |
| 8 | g.27463230C>G | CA370809163 | CHRNA2 | c.1213G>C (p.Glu405Gln) c.1168G>C (p.Glu390Gln) n.290-1476G>C c.1147G>C (p.Glu383Gln) c.*615G>C (n.*615G>C) c.736G>C (p.Glu246Gln) c.619G>C (p.Glu207Gln) | gnomAD v4 |
| 8 | g.27463230C>T | CA370809165 | CHRNA2 | c.1213G>A (p.Glu405Lys) c.1168G>A (p.Glu390Lys) n.290-1476G>A c.1147G>A (p.Glu383Lys) c.*615G>A (n.*615G>A) c.736G>A (p.Glu246Lys) c.619G>A (p.Glu207Lys) | dbSNP gnomAD v4 |