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 |
|---|---|---|---|---|---|
| 2 | g.174749938C= | CA1308832494 | CHRNA1 | c.513+8G= (n.513+8G=) c.1077+8G= (n.1077+8G=) c.1002+8G= (n.1002+8G=) c.756+8G= (n.756+8G=) c.*646+8G= (n.*646+8G=) c.1098+8G= (n.1098+8G=) c.1023+8G= (n.1023+8G=) | |
| 2 | g.174749938C>T | CA537763872 | CHRNA1 | c.513+8G>A (n.513+8G>A) c.1077+8G>A (n.1077+8G>A) c.1002+8G>A (n.1002+8G>A) c.756+8G>A (n.756+8G>A) c.*646+8G>A (n.*646+8G>A) c.1098+8G>A (n.1098+8G>A) c.1023+8G>A (n.1023+8G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174749939C>A | CA1974408 | CHRNA1 | c.513+7G>T (n.513+7G>T) c.1077+7G>T (n.1077+7G>T) c.1002+7G>T (n.1002+7G>T) c.756+7G>T (n.756+7G>T) c.*646+7G>T (n.*646+7G>T) c.1098+7G>T (n.1098+7G>T) c.1023+7G>T (n.1023+7G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174749939C= | CA1308832495 | CHRNA1 | c.513+7G= (n.513+7G=) c.1077+7G= (n.1077+7G=) c.1002+7G= (n.1002+7G=) c.756+7G= (n.756+7G=) c.*646+7G= (n.*646+7G=) c.1098+7G= (n.1098+7G=) c.1023+7G= (n.1023+7G=) | |
| 2 | g.174749939C>G | CA2662020245 | CHRNA1 | c.513+7G>C (n.513+7G>C) c.1077+7G>C (n.1077+7G>C) c.1002+7G>C (n.1002+7G>C) c.756+7G>C (n.756+7G>C) c.*646+7G>C (n.*646+7G>C) c.1098+7G>C (n.1098+7G>C) c.1023+7G>C (n.1023+7G>C) | gnomAD v4 |
| 2 | g.174749939C>T | CA1308832496 | CHRNA1 | c.513+7G>A (n.513+7G>A) c.1077+7G>A (n.1077+7G>A) c.1002+7G>A (n.1002+7G>A) c.756+7G>A (n.756+7G>A) c.*646+7G>A (n.*646+7G>A) c.1098+7G>A (n.1098+7G>A) c.1023+7G>A (n.1023+7G>A) | dbSNP gnomAD v4 |
| 2 | g.174749940A= | CA1308832498 | CHRNA1 | c.513+6T= (n.513+6T=) c.1077+6T= (n.1077+6T=) c.1002+6T= (n.1002+6T=) c.756+6T= (n.756+6T=) c.*646+6T= (n.*646+6T=) c.1098+6T= (n.1098+6T=) c.1023+6T= (n.1023+6T=) | |
| 2 | g.174749940A>C | CA1974409 | CHRNA1 | c.513+6T>G (n.513+6T>G) c.1077+6T>G (n.1077+6T>G) c.1002+6T>G (n.1002+6T>G) c.756+6T>G (n.756+6T>G) c.*646+6T>G (n.*646+6T>G) c.1098+6T>G (n.1098+6T>G) c.1023+6T>G (n.1023+6T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174749940_174749941delinsAC | CA1308832497 | CHRNA1 | c.513+5_513+6delinsGT (n.513+5_513+6delinsGT) c.1077+5_1077+6delinsGT (n.1077+5_1077+6delinsGT) c.1002+5_1002+6delinsGT (n.1002+5_1002+6delinsGT) c.756+5_756+6delinsGT (n.756+5_756+6delinsGT) c.*646+5_*646+6delinsGT (n.*646+5_*646+6delinsGT) c.1098+5_1098+6delinsGT (n.1098+5_1098+6delinsGT) c.1023+5_1023+6delinsGT (n.1023+5_1023+6delinsGT) | |
| 2 | g.174749941del | CA430021904 | CHRNA1 | c.513+5del (n.513+5del) c.1077+5del (n.1077+5del) c.1002+5del (n.1002+5del) c.756+5del (n.756+5del) c.*646+5del (n.*646+5del) c.1098+5del (n.1098+5del) c.1023+5del (n.1023+5del) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174749942del | CA349335921 | CHRNA1 | c.513+4del (n.513+4del) c.1077+4del (n.1077+4del) c.1002+4del (n.1002+4del) c.756+4del (n.756+4del) c.*646+4del (n.*646+4del) c.1098+4del (n.1098+4del) c.1023+4del (n.1023+4del) | |
| 2 | g.174749942T>C | CA1974410 | CHRNA1 | c.513+4A>G (n.513+4A>G) c.1077+4A>G (n.1077+4A>G) c.1002+4A>G (n.1002+4A>G) c.756+4A>G (n.756+4A>G) c.*646+4A>G (n.*646+4A>G) c.1098+4A>G (n.1098+4A>G) c.1023+4A>G (n.1023+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174749942T= | CA1308832499 | CHRNA1 | c.513+4A= (n.513+4A=) c.1077+4A= (n.1077+4A=) c.1002+4A= (n.1002+4A=) c.756+4A= (n.756+4A=) c.*646+4A= (n.*646+4A=) c.1098+4A= (n.1098+4A=) c.1023+4A= (n.1023+4A=) | |
| 2 | g.174749943C>A | CA2662020246 | CHRNA1 | c.513+3G>T (n.513+3G>T) c.1077+3G>T (n.1077+3G>T) c.1002+3G>T (n.1002+3G>T) c.756+3G>T (n.756+3G>T) c.*646+3G>T (n.*646+3G>T) c.1098+3G>T (n.1098+3G>T) c.1023+3G>T (n.1023+3G>T) | gnomAD v4 |
| 2 | g.174749944A= | CA1308832500 | CHRNA1 | c.513+2T= (n.513+2T=) c.1077+2T= (n.1077+2T=) c.1002+2T= (n.1002+2T=) c.756+2T= (n.756+2T=) c.*646+2T= (n.*646+2T=) c.1098+2T= (n.1098+2T=) c.1023+2T= (n.1023+2T=) | |
| 2 | g.174749944A>C | CA1974411 | CHRNA1 | c.513+2T>G (n.513+2T>G) c.1077+2T>G (n.1077+2T>G) c.1002+2T>G (n.1002+2T>G) c.756+2T>G (n.756+2T>G) c.*646+2T>G (n.*646+2T>G) c.1098+2T>G (n.1098+2T>G) c.1023+2T>G (n.1023+2T>G) | dbSNP ExAC |
| 2 | g.174749944A>G | CA349335927 | CHRNA1 | c.513+2T>C (n.513+2T>C) c.1077+2T>C (n.1077+2T>C) c.1002+2T>C (n.1002+2T>C) c.756+2T>C (n.756+2T>C) c.*646+2T>C (n.*646+2T>C) c.1098+2T>C (n.1098+2T>C) c.1023+2T>C (n.1023+2T>C) | |
| 2 | g.174749944A>T | CA349335926 | CHRNA1 | c.513+2T>A (n.513+2T>A) c.1077+2T>A (n.1077+2T>A) c.1002+2T>A (n.1002+2T>A) c.756+2T>A (n.756+2T>A) c.*646+2T>A (n.*646+2T>A) c.1098+2T>A (n.1098+2T>A) c.1023+2T>A (n.1023+2T>A) | |
| 2 | g.174749945C>A | CA349335928 | CHRNA1 | c.513+1G>T (n.513+1G>T) c.1077+1G>T (n.1077+1G>T) c.1002+1G>T (n.1002+1G>T) c.756+1G>T (n.756+1G>T) c.*646+1G>T (n.*646+1G>T) c.1098+1G>T (n.1098+1G>T) c.1023+1G>T (n.1023+1G>T) | |
| 2 | g.174749945C= | CA1308832501 | CHRNA1 | c.513+1G= (n.513+1G=) c.1077+1G= (n.1077+1G=) c.1002+1G= (n.1002+1G=) c.756+1G= (n.756+1G=) c.*646+1G= (n.*646+1G=) c.1098+1G= (n.1098+1G=) c.1023+1G= (n.1023+1G=) | |
| 2 | g.174749945C>G | CA349335929 | CHRNA1 | c.513+1G>C (n.513+1G>C) c.1077+1G>C (n.1077+1G>C) c.1002+1G>C (n.1002+1G>C) c.756+1G>C (n.756+1G>C) c.*646+1G>C (n.*646+1G>C) c.1098+1G>C (n.1098+1G>C) c.1023+1G>C (n.1023+1G>C) | |
| 2 | g.174749945C>T | CA60848720 | CHRNA1 | c.513+1G>A (n.513+1G>A) c.1077+1G>A (n.1077+1G>A) c.1002+1G>A (n.1002+1G>A) c.756+1G>A (n.756+1G>A) c.*646+1G>A (n.*646+1G>A) c.1098+1G>A (n.1098+1G>A) c.1023+1G>A (n.1023+1G>A) | dbSNP gnomAD v4 |
| 2 | g.174749946C>A | CA349335932 | CHRNA1 | c.513G>T (p.Lys171Asn) c.1077G>T (p.Lys359Asn) c.1002G>T (p.Lys334Asn) c.756G>T (p.Lys252Asn) c.*646G>T (n.*646G>T) c.1098G>T (p.Lys366Asn) c.1023G>T (p.Lys341Asn) | |
| 2 | g.174749946C= | CA1308832502 | CHRNA1 | c.513G= (p.Lys171=) c.1077G= (p.Lys359=) c.1002G= (p.Lys334=) c.756G= (p.Lys252=) c.*646G= (n.*646G=) c.1098G= (p.Lys366=) c.1023G= (p.Lys341=) | |
| 2 | g.174749946C>G | CA349335934 | CHRNA1 | c.513G>C (p.Lys171Asn) c.1077G>C (p.Lys359Asn) c.1002G>C (p.Lys334Asn) c.756G>C (p.Lys252Asn) c.*646G>C (n.*646G>C) c.1098G>C (p.Lys366Asn) c.1023G>C (p.Lys341Asn) | |
| 2 | g.174749946C>T | CA430021908 | CHRNA1 | c.513G>A (p.Lys171=) c.1077G>A (p.Lys359=) c.1002G>A (p.Lys334=) c.756G>A (p.Lys252=) c.*646G>A (n.*646G>A) c.1098G>A (p.Lys366=) c.1023G>A (p.Lys341=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174749947T>A | CA349335935 | CHRNA1 | c.512A>T (p.Lys171Met) c.1076A>T (p.Lys359Met) c.1001A>T (p.Lys334Met) c.755A>T (p.Lys252Met) c.*645A>T (n.*645A>T) c.1097A>T (p.Lys366Met) c.1022A>T (p.Lys341Met) | |
| 2 | g.174749947T>C | CA349335936 | CHRNA1 | c.512A>G (p.Lys171Arg) c.1076A>G (p.Lys359Arg) c.1001A>G (p.Lys334Arg) c.755A>G (p.Lys252Arg) c.*645A>G (n.*645A>G) c.1097A>G (p.Lys366Arg) c.1022A>G (p.Lys341Arg) | |
| 2 | g.174749947T>G | CA349335937 | CHRNA1 | c.512A>C (p.Lys171Thr) c.1076A>C (p.Lys359Thr) c.1001A>C (p.Lys334Thr) c.755A>C (p.Lys252Thr) c.*645A>C (n.*645A>C) c.1097A>C (p.Lys366Thr) c.1022A>C (p.Lys341Thr) | |
| 2 | g.174749948T>A | CA349335938 | CHRNA1 | c.511A>T (p.Lys171Ter) c.1075A>T (p.Lys359Ter) c.1000A>T (p.Lys334Ter) c.754A>T (p.Lys252Ter) c.*644A>T (n.*644A>T) c.1096A>T (p.Lys366Ter) c.1021A>T (p.Lys341Ter) | |
| 2 | g.174749948T>C | CA349335940 | CHRNA1 | c.511A>G (p.Lys171Glu) c.1075A>G (p.Lys359Glu) c.1000A>G (p.Lys334Glu) c.754A>G (p.Lys252Glu) c.*644A>G (n.*644A>G) c.1096A>G (p.Lys366Glu) c.1021A>G (p.Lys341Glu) | |
| 2 | g.174749948T>G | CA349335942 | CHRNA1 | c.511A>C (p.Lys171Gln) c.1075A>C (p.Lys359Gln) c.1000A>C (p.Lys334Gln) c.754A>C (p.Lys252Gln) c.*644A>C (n.*644A>C) c.1096A>C (p.Lys366Gln) c.1021A>C (p.Lys341Gln) | gnomAD v4 |
| 2 | g.174749949C>A | CA430021911 | CHRNA1 | c.510G>T (p.Arg170=) c.1074G>T (p.Arg358=) c.999G>T (p.Arg333=) c.753G>T (p.Arg251=) c.*643G>T (n.*643G>T) c.1095G>T (p.Arg365=) c.1020G>T (p.Arg340=) | |
| 2 | g.174749949C>G | CA430021910 | CHRNA1 | c.510G>C (p.Arg170=) c.1074G>C (p.Arg358=) c.999G>C (p.Arg333=) c.753G>C (p.Arg251=) c.*643G>C (n.*643G>C) c.1095G>C (p.Arg365=) c.1020G>C (p.Arg340=) | |
| 2 | g.174749949C>T | CA430021909 | CHRNA1 | c.510G>A (p.Arg170=) c.1074G>A (p.Arg358=) c.999G>A (p.Arg333=) c.753G>A (p.Arg251=) c.*643G>A (n.*643G>A) c.1095G>A (p.Arg365=) c.1020G>A (p.Arg340=) | |
| 2 | g.174749950C>A | CA349335945 | CHRNA1 | c.509G>T (p.Arg170Leu) c.1073G>T (p.Arg358Leu) c.998G>T (p.Arg333Leu) c.752G>T (p.Arg251Leu) c.*642G>T (n.*642G>T) c.1094G>T (p.Arg365Leu) c.1019G>T (p.Arg340Leu) | gnomAD v4 |
| 2 | g.174749950C= | CA1308832503 | CHRNA1 | c.509G= (p.Arg170=) c.1073G= (p.Arg358=) c.998G= (p.Arg333=) c.752G= (p.Arg251=) c.*642G= (n.*642G=) c.1094G= (p.Arg365=) c.1019G= (p.Arg340=) | |
| 2 | g.174749950C>G | CA349335949 | CHRNA1 | c.509G>C (p.Arg170Pro) c.1073G>C (p.Arg358Pro) c.998G>C (p.Arg333Pro) c.752G>C (p.Arg251Pro) c.*642G>C (n.*642G>C) c.1094G>C (p.Arg365Pro) c.1019G>C (p.Arg340Pro) | |
| 2 | g.174749950C>T | CA60848722 | CHRNA1 | c.509G>A (p.Arg170Gln) c.1073G>A (p.Arg358Gln) c.998G>A (p.Arg333Gln) c.752G>A (p.Arg251Gln) c.*642G>A (n.*642G>A) c.1094G>A (p.Arg365Gln) c.1019G>A (p.Arg340Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174749951G>A | CA1974412 | CHRNA1 | c.508C>T (p.Arg170Trp) c.1072C>T (p.Arg358Trp) c.997C>T (p.Arg333Trp) c.751C>T (p.Arg251Trp) c.*641C>T (n.*641C>T) c.1093C>T (p.Arg365Trp) c.1018C>T (p.Arg340Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174749951G>C | CA349335951 | CHRNA1 | c.508C>G (p.Arg170Gly) c.1072C>G (p.Arg358Gly) c.997C>G (p.Arg333Gly) c.751C>G (p.Arg251Gly) c.*641C>G (n.*641C>G) c.1093C>G (p.Arg365Gly) c.1018C>G (p.Arg340Gly) | ClinVar dbSNP |
| 2 | g.174749951G= | CA1308832504 | CHRNA1 | c.508C= (p.Arg170=) c.1072C= (p.Arg358=) c.997C= (p.Arg333=) c.751C= (p.Arg251=) c.*641C= (n.*641C=) c.1093C= (p.Arg365=) c.1018C= (p.Arg340=) | |
| 2 | g.174749951G>T | CA430021913 | CHRNA1 | c.508C>A (p.Arg170=) c.1072C>A (p.Arg358=) c.997C>A (p.Arg333=) c.751C>A (p.Arg251=) c.*641C>A (n.*641C>A) c.1093C>A (p.Arg365=) c.1018C>A (p.Arg340=) | |
| 2 | g.174749952C>A | CA430021914 | CHRNA1 | c.507G>T (p.Val169=) c.1071G>T (p.Val357=) c.996G>T (p.Val332=) c.750G>T (p.Val250=) c.*640G>T (n.*640G>T) c.1092G>T (p.Val364=) c.1017G>T (p.Val339=) | |
| 2 | g.174749952C>G | CA430021915 | CHRNA1 | c.507G>C (p.Val169=) c.1071G>C (p.Val357=) c.996G>C (p.Val332=) c.750G>C (p.Val250=) c.*640G>C (n.*640G>C) c.1092G>C (p.Val364=) c.1017G>C (p.Val339=) | |
| 2 | g.174749952C>T | CA430021916 | CHRNA1 | c.507G>A (p.Val169=) c.1071G>A (p.Val357=) c.996G>A (p.Val332=) c.750G>A (p.Val250=) c.*640G>A (n.*640G>A) c.1092G>A (p.Val364=) c.1017G>A (p.Val339=) | |
| 2 | g.174749953A= | CA1308832505 | CHRNA1 | c.506T= (p.Val169=) c.1070T= (p.Val357=) c.995T= (p.Val332=) c.749T= (p.Val250=) c.*639T= (n.*639T=) c.1091T= (p.Val364=) c.1016T= (p.Val339=) | |
| 2 | g.174749953A>C | CA349335957 | CHRNA1 | c.506T>G (p.Val169Gly) c.1070T>G (p.Val357Gly) c.995T>G (p.Val332Gly) c.749T>G (p.Val250Gly) c.*639T>G (n.*639T>G) c.1091T>G (p.Val364Gly) c.1016T>G (p.Val339Gly) | |
| 2 | g.174749953A>G | CA349335959 | CHRNA1 | c.506T>C (p.Val169Ala) c.1070T>C (p.Val357Ala) c.995T>C (p.Val332Ala) c.749T>C (p.Val250Ala) c.*639T>C (n.*639T>C) c.1091T>C (p.Val364Ala) c.1016T>C (p.Val339Ala) | ClinVar dbSNP |
| 2 | g.174749953A>T | CA349335958 | CHRNA1 | c.506T>A (p.Val169Glu) c.1070T>A (p.Val357Glu) c.995T>A (p.Val332Glu) c.749T>A (p.Val250Glu) c.*639T>A (n.*639T>A) c.1091T>A (p.Val364Glu) c.1016T>A (p.Val339Glu) | |
| 2 | g.174749954C>A | CA349335960 | CHRNA1 | c.505G>T (p.Val169Leu) c.1069G>T (p.Val357Leu) c.994G>T (p.Val332Leu) c.748G>T (p.Val250Leu) c.*638G>T (n.*638G>T) c.1090G>T (p.Val364Leu) c.1015G>T (p.Val339Leu) | |
| 2 | g.174749954C>G | CA349335961 | CHRNA1 | c.505G>C (p.Val169Leu) c.1069G>C (p.Val357Leu) c.994G>C (p.Val332Leu) c.748G>C (p.Val250Leu) c.*638G>C (n.*638G>C) c.1090G>C (p.Val364Leu) c.1015G>C (p.Val339Leu) | |
| 2 | g.174749954C>T | CA349335962 | CHRNA1 | c.505G>A (p.Val169Met) c.1069G>A (p.Val357Met) c.994G>A (p.Val332Met) c.748G>A (p.Val250Met) c.*638G>A (n.*638G>A) c.1090G>A (p.Val364Met) c.1015G>A (p.Val339Met) | gnomAD v4 |
| 2 | g.174749955C>A | CA1974413 | CHRNA1 | c.504G>T (p.Trp168Cys) c.1068G>T (p.Trp356Cys) c.993G>T (p.Trp331Cys) c.747G>T (p.Trp249Cys) c.*637G>T (n.*637G>T) c.1089G>T (p.Trp363Cys) c.1014G>T (p.Trp338Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174749955C= | CA1308832506 | CHRNA1 | c.504G= (p.Trp168=) c.1068G= (p.Trp356=) c.993G= (p.Trp331=) c.747G= (p.Trp249=) c.*637G= (n.*637G=) c.1089G= (p.Trp363=) c.1014G= (p.Trp338=) | |
| 2 | g.174749955C>G | CA349335964 | CHRNA1 | c.504G>C (p.Trp168Cys) c.1068G>C (p.Trp356Cys) c.993G>C (p.Trp331Cys) c.747G>C (p.Trp249Cys) c.*637G>C (n.*637G>C) c.1089G>C (p.Trp363Cys) c.1014G>C (p.Trp338Cys) | |
| 2 | g.174749955C>T | CA349335967 | CHRNA1 | c.504G>A (p.Trp168Ter) c.1068G>A (p.Trp356Ter) c.993G>A (p.Trp331Ter) c.747G>A (p.Trp249Ter) c.*637G>A (n.*637G>A) c.1089G>A (p.Trp363Ter) c.1014G>A (p.Trp338Ter) | |
| 2 | g.174749956C>A | CA349335970 | CHRNA1 | c.503G>T (p.Trp168Leu) c.1067G>T (p.Trp356Leu) c.992G>T (p.Trp331Leu) c.746G>T (p.Trp249Leu) c.*636G>T (n.*636G>T) c.1088G>T (p.Trp363Leu) c.1013G>T (p.Trp338Leu) | |
| 2 | g.174749956C= | CA1308832507 | CHRNA1 | c.503G= (p.Trp168=) c.1067G= (p.Trp356=) c.992G= (p.Trp331=) c.746G= (p.Trp249=) c.*636G= (n.*636G=) c.1088G= (p.Trp363=) c.1013G= (p.Trp338=) | |
| 2 | g.174749956C>G | CA349335968 | CHRNA1 | c.503G>C (p.Trp168Ser) c.1067G>C (p.Trp356Ser) c.992G>C (p.Trp331Ser) c.746G>C (p.Trp249Ser) c.*636G>C (n.*636G>C) c.1088G>C (p.Trp363Ser) c.1013G>C (p.Trp338Ser) | |
| 2 | g.174749956C>T | CA1974414 | CHRNA1 | c.503G>A (p.Trp168Ter) c.1067G>A (p.Trp356Ter) c.992G>A (p.Trp331Ter) c.746G>A (p.Trp249Ter) c.*636G>A (n.*636G>A) c.1088G>A (p.Trp363Ter) c.1013G>A (p.Trp338Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174749957A= | CA1308832508 | CHRNA1 | c.502T= (p.Trp168=) c.1066T= (p.Trp356=) c.991T= (p.Trp331=) c.745T= (p.Trp249=) c.*635T= (n.*635T=) c.1087T= (p.Trp363=) c.1012T= (p.Trp338=) | |
| 2 | g.174749957A>C | CA349335972 | CHRNA1 | c.502T>G (p.Trp168Gly) c.1066T>G (p.Trp356Gly) c.991T>G (p.Trp331Gly) c.745T>G (p.Trp249Gly) c.*635T>G (n.*635T>G) c.1087T>G (p.Trp363Gly) c.1012T>G (p.Trp338Gly) | dbSNP |
| 2 | g.174749957A>G | CA349335973 | CHRNA1 | c.502T>C (p.Trp168Arg) c.1066T>C (p.Trp356Arg) c.991T>C (p.Trp331Arg) c.745T>C (p.Trp249Arg) c.*635T>C (n.*635T>C) c.1087T>C (p.Trp363Arg) c.1012T>C (p.Trp338Arg) | |
| 2 | g.174749957A>T | CA349335974 | CHRNA1 | c.502T>A (p.Trp168Arg) c.1066T>A (p.Trp356Arg) c.991T>A (p.Trp331Arg) c.745T>A (p.Trp249Arg) c.*635T>A (n.*635T>A) c.1087T>A (p.Trp363Arg) c.1012T>A (p.Trp338Arg) | |
| 2 | g.174749958G>A | CA430021945 | CHRNA1 | c.501C>T (p.Asn167=) c.1065C>T (p.Asn355=) c.990C>T (p.Asn330=) c.744C>T (p.Asn248=) c.*634C>T (n.*634C>T) c.1086C>T (p.Asn362=) c.1011C>T (p.Asn337=) | |
| 2 | g.174749958G>C | CA349335975 | CHRNA1 | c.501C>G (p.Asn167Lys) c.1065C>G (p.Asn355Lys) c.990C>G (p.Asn330Lys) c.744C>G (p.Asn248Lys) c.*634C>G (n.*634C>G) c.1086C>G (p.Asn362Lys) c.1011C>G (p.Asn337Lys) | gnomAD v4 |
| 2 | g.174749958G>T | CA349335976 | CHRNA1 | c.501C>A (p.Asn167Lys) c.1065C>A (p.Asn355Lys) c.990C>A (p.Asn330Lys) c.744C>A (p.Asn248Lys) c.*634C>A (n.*634C>A) c.1086C>A (p.Asn362Lys) c.1011C>A (p.Asn337Lys) | |
| 2 | g.174749959T>A | CA349335981 | CHRNA1 | c.500A>T (p.Asn167Ile) c.1064A>T (p.Asn355Ile) c.989A>T (p.Asn330Ile) c.743A>T (p.Asn248Ile) c.*633A>T (n.*633A>T) c.1085A>T (p.Asn362Ile) c.1010A>T (p.Asn337Ile) | |
| 2 | g.174749959T>C | CA1974415 | CHRNA1 | c.500A>G (p.Asn167Ser) c.1064A>G (p.Asn355Ser) c.989A>G (p.Asn330Ser) c.743A>G (p.Asn248Ser) c.*633A>G (n.*633A>G) c.1085A>G (p.Asn362Ser) c.1010A>G (p.Asn337Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174749959T>G | CA349335980 | CHRNA1 | c.500A>C (p.Asn167Thr) c.1064A>C (p.Asn355Thr) c.989A>C (p.Asn330Thr) c.743A>C (p.Asn248Thr) c.*633A>C (n.*633A>C) c.1085A>C (p.Asn362Thr) c.1010A>C (p.Asn337Thr) | |
| 2 | g.174749959T= | CA1308832509 | CHRNA1 | c.500A= (p.Asn167=) c.1064A= (p.Asn355=) c.989A= (p.Asn330=) c.743A= (p.Asn248=) c.*633A= (n.*633A=) c.1085A= (p.Asn362=) c.1010A= (p.Asn337=) | |
| 2 | g.174749960T>A | CA349335984 | CHRNA1 | c.499A>T (p.Asn167Tyr) c.1063A>T (p.Asn355Tyr) c.988A>T (p.Asn330Tyr) c.742A>T (p.Asn248Tyr) c.*632A>T (n.*632A>T) c.1084A>T (p.Asn362Tyr) c.1009A>T (p.Asn337Tyr) | |
| 2 | g.174749960T>C | CA349335988 | CHRNA1 | c.499A>G (p.Asn167Asp) c.1063A>G (p.Asn355Asp) c.988A>G (p.Asn330Asp) c.742A>G (p.Asn248Asp) c.*632A>G (n.*632A>G) c.1084A>G (p.Asn362Asp) c.1009A>G (p.Asn337Asp) | |
| 2 | g.174749960T>G | CA349335991 | CHRNA1 | c.499A>C (p.Asn167His) c.1063A>C (p.Asn355His) c.988A>C (p.Asn330His) c.742A>C (p.Asn248His) c.*632A>C (n.*632A>C) c.1084A>C (p.Asn362His) c.1009A>C (p.Asn337His) | |
| 2 | g.174749961G>A | CA430021958 | CHRNA1 | c.498C>T (p.Pro166=) c.1062C>T (p.Pro354=) c.987C>T (p.Pro329=) c.741C>T (p.Pro247=) c.*631C>T (n.*631C>T) c.1083C>T (p.Pro361=) c.1008C>T (p.Pro336=) | |
| 2 | g.174749961G>C | CA430021960 | CHRNA1 | c.498C>G (p.Pro166=) c.1062C>G (p.Pro354=) c.987C>G (p.Pro329=) c.741C>G (p.Pro247=) c.*631C>G (n.*631C>G) c.1083C>G (p.Pro361=) c.1008C>G (p.Pro336=) | |
| 2 | g.174749961G>T | CA430021963 | CHRNA1 | c.498C>A (p.Pro166=) c.1062C>A (p.Pro354=) c.987C>A (p.Pro329=) c.741C>A (p.Pro247=) c.*631C>A (n.*631C>A) c.1083C>A (p.Pro361=) c.1008C>A (p.Pro336=) | gnomAD v4 |
| 2 | g.174749962G>A | CA349335992 | CHRNA1 | c.497C>T (p.Pro166Leu) c.1061C>T (p.Pro354Leu) c.986C>T (p.Pro329Leu) c.740C>T (p.Pro247Leu) c.*630C>T (n.*630C>T) c.1082C>T (p.Pro361Leu) c.1007C>T (p.Pro336Leu) | |
| 2 | g.174749962G>C | CA349335993 | CHRNA1 | c.497C>G (p.Pro166Arg) c.1061C>G (p.Pro354Arg) c.986C>G (p.Pro329Arg) c.740C>G (p.Pro247Arg) c.*630C>G (n.*630C>G) c.1082C>G (p.Pro361Arg) c.1007C>G (p.Pro336Arg) | |
| 2 | g.174749962G= | CA1308832510 | CHRNA1 | c.497C= (p.Pro166=) c.1061C= (p.Pro354=) c.986C= (p.Pro329=) c.740C= (p.Pro247=) c.*630C= (n.*630C=) c.1082C= (p.Pro361=) c.1007C= (p.Pro336=) | |
| 2 | g.174749962G>T | CA349335994 | CHRNA1 | c.497C>A (p.Pro166His) c.1061C>A (p.Pro354His) c.986C>A (p.Pro329His) c.740C>A (p.Pro247His) c.*630C>A (n.*630C>A) c.1082C>A (p.Pro361His) c.1007C>A (p.Pro336His) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174749963G>A | CA349335996 | CHRNA1 | c.496C>T (p.Pro166Ser) c.1060C>T (p.Pro354Ser) c.985C>T (p.Pro329Ser) c.739C>T (p.Pro247Ser) c.*629C>T (n.*629C>T) c.1081C>T (p.Pro361Ser) c.1006C>T (p.Pro336Ser) | |
| 2 | g.174749963G>C | CA349335998 | CHRNA1 | c.496C>G (p.Pro166Ala) c.1060C>G (p.Pro354Ala) c.985C>G (p.Pro329Ala) c.739C>G (p.Pro247Ala) c.*629C>G (n.*629C>G) c.1081C>G (p.Pro361Ala) c.1006C>G (p.Pro336Ala) | |
| 2 | g.174749963G>T | CA349336002 | CHRNA1 | c.496C>A (p.Pro166Thr) c.1060C>A (p.Pro354Thr) c.985C>A (p.Pro329Thr) c.739C>A (p.Pro247Thr) c.*629C>A (n.*629C>A) c.1081C>A (p.Pro361Thr) c.1006C>A (p.Pro336Thr) | gnomAD v4 |
| 2 | g.174749964C>A | CA349336004 | CHRNA1 | c.495G>T (p.Met165Ile) c.1059G>T (p.Met353Ile) c.984G>T (p.Met328Ile) c.738G>T (p.Met246Ile) c.*628G>T (n.*628G>T) c.1080G>T (p.Met360Ile) c.1005G>T (p.Met335Ile) | |
| 2 | g.174749964C>G | CA349336005 | CHRNA1 | c.495G>C (p.Met165Ile) c.1059G>C (p.Met353Ile) c.984G>C (p.Met328Ile) c.738G>C (p.Met246Ile) c.*628G>C (n.*628G>C) c.1080G>C (p.Met360Ile) c.1005G>C (p.Met335Ile) | |
| 2 | g.174749964C>T | CA349336006 | CHRNA1 | c.495G>A (p.Met165Ile) c.1059G>A (p.Met353Ile) c.984G>A (p.Met328Ile) c.738G>A (p.Met246Ile) c.*628G>A (n.*628G>A) c.1080G>A (p.Met360Ile) c.1005G>A (p.Met335Ile) | ClinVar dbSNP |
| 2 | g.174749965A= | CA1308832511 | CHRNA1 | c.494T= (p.Met165=) c.1058T= (p.Met353=) c.983T= (p.Met328=) c.737T= (p.Met246=) c.*627T= (n.*627T=) c.1079T= (p.Met360=) c.1004T= (p.Met335=) | |
| 2 | g.174749965A>C | CA349336007 | CHRNA1 | c.494T>G (p.Met165Arg) c.1058T>G (p.Met353Arg) c.983T>G (p.Met328Arg) c.737T>G (p.Met246Arg) c.*627T>G (n.*627T>G) c.1079T>G (p.Met360Arg) c.1004T>G (p.Met335Arg) | |
| 2 | g.174749965A>G | CA349336016 | CHRNA1 | c.494T>C (p.Met165Thr) c.1058T>C (p.Met353Thr) c.983T>C (p.Met328Thr) c.737T>C (p.Met246Thr) c.*627T>C (n.*627T>C) c.1079T>C (p.Met360Thr) c.1004T>C (p.Met335Thr) | dbSNP |
| 2 | g.174749965A>T | CA349336009 | CHRNA1 | c.494T>A (p.Met165Lys) c.1058T>A (p.Met353Lys) c.983T>A (p.Met328Lys) c.737T>A (p.Met246Lys) c.*627T>A (n.*627T>A) c.1079T>A (p.Met360Lys) c.1004T>A (p.Met335Lys) | |
| 2 | g.174749966T>A | CA349336017 | CHRNA1 | c.493A>T (p.Met165Leu) c.1057A>T (p.Met353Leu) c.982A>T (p.Met328Leu) c.736A>T (p.Met246Leu) c.*626A>T (n.*626A>T) c.1078A>T (p.Met360Leu) c.1003A>T (p.Met335Leu) | |
| 2 | g.174749966T>C | CA349336018 | CHRNA1 | c.493A>G (p.Met165Val) c.1057A>G (p.Met353Val) c.982A>G (p.Met328Val) c.736A>G (p.Met246Val) c.*626A>G (n.*626A>G) c.1078A>G (p.Met360Val) c.1003A>G (p.Met335Val) | gnomAD v4 |
| 2 | g.174749966T>G | CA349336021 | CHRNA1 | c.493A>C (p.Met165Leu) c.1057A>C (p.Met353Leu) c.982A>C (p.Met328Leu) c.736A>C (p.Met246Leu) c.*626A>C (n.*626A>C) c.1078A>C (p.Met360Leu) c.1003A>C (p.Met335Leu) | |
| 2 | g.174749967G>A | CA430021995 | CHRNA1 | c.492C>T (p.Val164=) c.1056C>T (p.Val352=) c.981C>T (p.Val327=) c.735C>T (p.Val245=) c.*625C>T (n.*625C>T) c.1077C>T (p.Val359=) c.1002C>T (p.Val334=) | |
| 2 | g.174749967G>C | CA430021998 | CHRNA1 | c.492C>G (p.Val164=) c.1056C>G (p.Val352=) c.981C>G (p.Val327=) c.735C>G (p.Val245=) c.*625C>G (n.*625C>G) c.1077C>G (p.Val359=) c.1002C>G (p.Val334=) | |
| 2 | g.174749967G>T | CA430022001 | CHRNA1 | c.492C>A (p.Val164=) c.1056C>A (p.Val352=) c.981C>A (p.Val327=) c.735C>A (p.Val245=) c.*625C>A (n.*625C>A) c.1077C>A (p.Val359=) c.1002C>A (p.Val334=) | gnomAD v4 |
| 2 | g.174749968A>C | CA349336024 | CHRNA1 | c.491T>G (p.Val164Gly) c.1055T>G (p.Val352Gly) c.980T>G (p.Val327Gly) c.734T>G (p.Val245Gly) c.*624T>G (n.*624T>G) c.1076T>G (p.Val359Gly) c.1001T>G (p.Val334Gly) | |
| 2 | g.174749968A>G | CA349336025 | CHRNA1 | c.491T>C (p.Val164Ala) c.1055T>C (p.Val352Ala) c.980T>C (p.Val327Ala) c.734T>C (p.Val245Ala) c.*624T>C (n.*624T>C) c.1076T>C (p.Val359Ala) c.1001T>C (p.Val334Ala) | |
| 2 | g.174749968A>T | CA349336026 | CHRNA1 | c.491T>A (p.Val164Asp) c.1055T>A (p.Val352Asp) c.980T>A (p.Val327Asp) c.734T>A (p.Val245Asp) c.*624T>A (n.*624T>A) c.1076T>A (p.Val359Asp) c.1001T>A (p.Val334Asp) | |
| 2 | g.174749969C>A | CA349336027 | CHRNA1 | c.490G>T (p.Val164Phe) c.1054G>T (p.Val352Phe) c.979G>T (p.Val327Phe) c.733G>T (p.Val245Phe) c.*623G>T (n.*623G>T) c.1075G>T (p.Val359Phe) c.1000G>T (p.Val334Phe) | |
| 2 | g.174749969C>G | CA349336030 | CHRNA1 | c.490G>C (p.Val164Leu) c.1054G>C (p.Val352Leu) c.979G>C (p.Val327Leu) c.733G>C (p.Val245Leu) c.*623G>C (n.*623G>C) c.1075G>C (p.Val359Leu) c.1000G>C (p.Val334Leu) | |
| 2 | g.174749969C>T | CA349336032 | CHRNA1 | c.490G>A (p.Val164Ile) c.1054G>A (p.Val352Ile) c.979G>A (p.Val327Ile) c.733G>A (p.Val245Ile) c.*623G>A (n.*623G>A) c.1075G>A (p.Val359Ile) c.1000G>A (p.Val334Ile) | |
| 2 | g.174749970A= | CA1308832512 | CHRNA1 | c.489T= (p.His163=) c.1053T= (p.His351=) c.978T= (p.His326=) c.732T= (p.His244=) c.*622T= (n.*622T=) c.1074T= (p.His358=) c.999T= (p.His333=) | |
| 2 | g.174749970A>C | CA349336034 | CHRNA1 | c.489T>G (p.His163Gln) c.1053T>G (p.His351Gln) c.978T>G (p.His326Gln) c.732T>G (p.His244Gln) c.*622T>G (n.*622T>G) c.1074T>G (p.His358Gln) c.999T>G (p.His333Gln) | |
| 2 | g.174749970A>G | CA430022013 | CHRNA1 | c.489T>C (p.His163=) c.1053T>C (p.His351=) c.978T>C (p.His326=) c.732T>C (p.His244=) c.*622T>C (n.*622T>C) c.1074T>C (p.His358=) c.999T>C (p.His333=) | dbSNP gnomAD v4 |
| 2 | g.174749970A>T | CA349336037 | CHRNA1 | c.489T>A (p.His163Gln) c.1053T>A (p.His351Gln) c.978T>A (p.His326Gln) c.732T>A (p.His244Gln) c.*622T>A (n.*622T>A) c.1074T>A (p.His358Gln) c.999T>A (p.His333Gln) | ClinVar dbSNP COSMIC |
| 2 | g.174749971T>A | CA349336057 | CHRNA1 | c.488A>T (p.His163Leu) c.1052A>T (p.His351Leu) c.977A>T (p.His326Leu) c.731A>T (p.His244Leu) c.*621A>T (n.*621A>T) c.1073A>T (p.His358Leu) c.998A>T (p.His333Leu) | |
| 2 | g.174749971T>C | CA1974416 | CHRNA1 | c.488A>G (p.His163Arg) c.1052A>G (p.His351Arg) c.977A>G (p.His326Arg) c.731A>G (p.His244Arg) c.*621A>G (n.*621A>G) c.1073A>G (p.His358Arg) c.998A>G (p.His333Arg) | dbSNP ExAC gnomAD v2 |
| 2 | g.174749971T>G | CA349336040 | CHRNA1 | c.488A>C (p.His163Pro) c.1052A>C (p.His351Pro) c.977A>C (p.His326Pro) c.731A>C (p.His244Pro) c.*621A>C (n.*621A>C) c.1073A>C (p.His358Pro) c.998A>C (p.His333Pro) | |
| 2 | g.174749971T= | CA1308832513 | CHRNA1 | c.488A= (p.His163=) c.1052A= (p.His351=) c.977A= (p.His326=) c.731A= (p.His244=) c.*621A= (n.*621A=) c.1073A= (p.His358=) c.998A= (p.His333=) | |
| 2 | g.174749972G>A | CA349336060 | CHRNA1 | c.487C>T (p.His163Tyr) c.1051C>T (p.His351Tyr) c.976C>T (p.His326Tyr) c.730C>T (p.His244Tyr) c.*620C>T (n.*620C>T) c.1072C>T (p.His358Tyr) c.997C>T (p.His333Tyr) | gnomAD v4 |
| 2 | g.174749972G>C | CA349336064 | CHRNA1 | c.487C>G (p.His163Asp) c.1051C>G (p.His351Asp) c.976C>G (p.His326Asp) c.730C>G (p.His244Asp) c.*620C>G (n.*620C>G) c.1072C>G (p.His358Asp) c.997C>G (p.His333Asp) | |
| 2 | g.174749972G>T | CA349336076 | CHRNA1 | c.487C>A (p.His163Asn) c.1051C>A (p.His351Asn) c.976C>A (p.His326Asn) c.730C>A (p.His244Asn) c.*620C>A (n.*620C>A) c.1072C>A (p.His358Asn) c.997C>A (p.His333Asn) | gnomAD v4 |
| 2 | g.174749973G>A | CA430022032 | CHRNA1 | c.486C>T (p.Thr162=) c.1050C>T (p.Thr350=) c.975C>T (p.Thr325=) c.729C>T (p.Thr243=) c.*619C>T (n.*619C>T) c.1071C>T (p.Thr357=) c.996C>T (p.Thr332=) | |
| 2 | g.174749973G>C | CA430022034 | CHRNA1 | c.486C>G (p.Thr162=) c.1050C>G (p.Thr350=) c.975C>G (p.Thr325=) c.729C>G (p.Thr243=) c.*619C>G (n.*619C>G) c.1071C>G (p.Thr357=) c.996C>G (p.Thr332=) | |
| 2 | g.174749973G>T | CA430022036 | CHRNA1 | c.486C>A (p.Thr162=) c.1050C>A (p.Thr350=) c.975C>A (p.Thr325=) c.729C>A (p.Thr243=) c.*619C>A (n.*619C>A) c.1071C>A (p.Thr357=) c.996C>A (p.Thr332=) | gnomAD v4 |
| 2 | g.174749974G>A | CA349336078 | CHRNA1 | c.485C>T (p.Thr162Ile) c.1049C>T (p.Thr350Ile) c.974C>T (p.Thr325Ile) c.728C>T (p.Thr243Ile) c.*618C>T (n.*618C>T) c.1070C>T (p.Thr357Ile) c.995C>T (p.Thr332Ile) | gnomAD v4 |
| 2 | g.174749974G>C | CA349336080 | CHRNA1 | c.485C>G (p.Thr162Ser) c.1049C>G (p.Thr350Ser) c.974C>G (p.Thr325Ser) c.728C>G (p.Thr243Ser) c.*618C>G (n.*618C>G) c.1070C>G (p.Thr357Ser) c.995C>G (p.Thr332Ser) | dbSNP |
| 2 | g.174749974G= | CA1308832514 | CHRNA1 | c.485C= (p.Thr162=) c.1049C= (p.Thr350=) c.974C= (p.Thr325=) c.728C= (p.Thr243=) c.*618C= (n.*618C=) c.1070C= (p.Thr357=) c.995C= (p.Thr332=) | |
| 2 | g.174749974G>T | CA349336082 | CHRNA1 | c.485C>A (p.Thr162Asn) c.1049C>A (p.Thr350Asn) c.974C>A (p.Thr325Asn) c.728C>A (p.Thr243Asn) c.*618C>A (n.*618C>A) c.1070C>A (p.Thr357Asn) c.995C>A (p.Thr332Asn) | |
| 2 | g.174749975T>A | CA349336084 | CHRNA1 | c.484A>T (p.Thr162Ser) c.1048A>T (p.Thr350Ser) c.973A>T (p.Thr325Ser) c.727A>T (p.Thr243Ser) c.*617A>T (n.*617A>T) c.1069A>T (p.Thr357Ser) c.994A>T (p.Thr332Ser) | |
| 2 | g.174749975T>C | CA349336086 | CHRNA1 | c.484A>G (p.Thr162Ala) c.1048A>G (p.Thr350Ala) c.973A>G (p.Thr325Ala) c.727A>G (p.Thr243Ala) c.*617A>G (n.*617A>G) c.1069A>G (p.Thr357Ala) c.994A>G (p.Thr332Ala) | |
| 2 | g.174749975T>G | CA349336088 | CHRNA1 | c.484A>C (p.Thr162Pro) c.1048A>C (p.Thr350Pro) c.973A>C (p.Thr325Pro) c.727A>C (p.Thr243Pro) c.*617A>C (n.*617A>C) c.1069A>C (p.Thr357Pro) c.994A>C (p.Thr332Pro) | gnomAD v4 |
| 2 | g.174749976G>A | CA430022060 | CHRNA1 | c.483C>T (p.Ser161=) c.1047C>T (p.Ser349=) c.972C>T (p.Ser324=) c.726C>T (p.Ser242=) c.*616C>T (n.*616C>T) c.1068C>T (p.Ser356=) c.993C>T (p.Ser331=) | |
| 2 | g.174749976G>C | CA349336089 | CHRNA1 | c.483C>G (p.Ser161Arg) c.1047C>G (p.Ser349Arg) c.972C>G (p.Ser324Arg) c.726C>G (p.Ser242Arg) c.*616C>G (n.*616C>G) c.1068C>G (p.Ser356Arg) c.993C>G (p.Ser331Arg) | |
| 2 | g.174749976G>T | CA349336091 | CHRNA1 | c.483C>A (p.Ser161Arg) c.1047C>A (p.Ser349Arg) c.972C>A (p.Ser324Arg) c.726C>A (p.Ser242Arg) c.*616C>A (n.*616C>A) c.1068C>A (p.Ser356Arg) c.993C>A (p.Ser331Arg) | |
| 2 | g.174749977C>A | CA349336096 | CHRNA1 | c.482G>T (p.Ser161Ile) c.1046G>T (p.Ser349Ile) c.971G>T (p.Ser324Ile) c.725G>T (p.Ser242Ile) c.*615G>T (n.*615G>T) c.1067G>T (p.Ser356Ile) c.992G>T (p.Ser331Ile) | |
| 2 | g.174749977C>G | CA349336095 | CHRNA1 | c.482G>C (p.Ser161Thr) c.1046G>C (p.Ser349Thr) c.971G>C (p.Ser324Thr) c.725G>C (p.Ser242Thr) c.*615G>C (n.*615G>C) c.1067G>C (p.Ser356Thr) c.992G>C (p.Ser331Thr) | |
| 2 | g.174749977C>T | CA349336093 | CHRNA1 | c.482G>A (p.Ser161Asn) c.1046G>A (p.Ser349Asn) c.971G>A (p.Ser324Asn) c.725G>A (p.Ser242Asn) c.*615G>A (n.*615G>A) c.1067G>A (p.Ser356Asn) c.992G>A (p.Ser331Asn) | |
| 2 | g.174749978T>A | CA349336100 | CHRNA1 | c.481A>T (p.Ser161Cys) c.1045A>T (p.Ser349Cys) c.970A>T (p.Ser324Cys) c.724A>T (p.Ser242Cys) c.*614A>T (n.*614A>T) c.1066A>T (p.Ser356Cys) c.991A>T (p.Ser331Cys) | |
| 2 | g.174749978T>C | CA349336103 | CHRNA1 | c.481A>G (p.Ser161Gly) c.1045A>G (p.Ser349Gly) c.970A>G (p.Ser324Gly) c.724A>G (p.Ser242Gly) c.*614A>G (n.*614A>G) c.1066A>G (p.Ser356Gly) c.991A>G (p.Ser331Gly) | |
| 2 | g.174749978T>G | CA349336102 | CHRNA1 | c.481A>C (p.Ser161Arg) c.1045A>C (p.Ser349Arg) c.970A>C (p.Ser324Arg) c.724A>C (p.Ser242Arg) c.*614A>C (n.*614A>C) c.1066A>C (p.Ser356Arg) c.991A>C (p.Ser331Arg) | |
| 2 | g.174749979G>A | CA430022076 | CHRNA1 | c.480C>T (p.Pro160=) c.1044C>T (p.Pro348=) c.969C>T (p.Pro323=) c.723C>T (p.Pro241=) c.*613C>T (n.*613C>T) c.1065C>T (p.Pro355=) c.990C>T (p.Pro330=) | |
| 2 | g.174749979G>C | CA430022081 | CHRNA1 | c.480C>G (p.Pro160=) c.1044C>G (p.Pro348=) c.969C>G (p.Pro323=) c.723C>G (p.Pro241=) c.*613C>G (n.*613C>G) c.1065C>G (p.Pro355=) c.990C>G (p.Pro330=) | |
| 2 | g.174749979G>T | CA430022078 | CHRNA1 | c.480C>A (p.Pro160=) c.1044C>A (p.Pro348=) c.969C>A (p.Pro323=) c.723C>A (p.Pro241=) c.*613C>A (n.*613C>A) c.1065C>A (p.Pro355=) c.990C>A (p.Pro330=) | |
| 2 | g.174749980G>A | CA349336106 | CHRNA1 | c.479C>T (p.Pro160Leu) c.1043C>T (p.Pro348Leu) c.968C>T (p.Pro323Leu) c.722C>T (p.Pro241Leu) c.*612C>T (n.*612C>T) c.1064C>T (p.Pro355Leu) c.989C>T (p.Pro330Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174749980G>C | CA349336107 | CHRNA1 | c.479C>G (p.Pro160Arg) c.1043C>G (p.Pro348Arg) c.968C>G (p.Pro323Arg) c.722C>G (p.Pro241Arg) c.*612C>G (n.*612C>G) c.1064C>G (p.Pro355Arg) c.989C>G (p.Pro330Arg) | |
| 2 | g.174749980G= | CA1308832515 | CHRNA1 | c.479C= (p.Pro160=) c.1043C= (p.Pro348=) c.968C= (p.Pro323=) c.722C= (p.Pro241=) c.*612C= (n.*612C=) c.1064C= (p.Pro355=) c.989C= (p.Pro330=) | |
| 2 | g.174749980G>T | CA349336113 | CHRNA1 | c.479C>A (p.Pro160His) c.1043C>A (p.Pro348His) c.968C>A (p.Pro323His) c.722C>A (p.Pro241His) c.*612C>A (n.*612C>A) c.1064C>A (p.Pro355His) c.989C>A (p.Pro330His) | |
| 2 | g.174749981G>A | CA349336116 | CHRNA1 | c.478C>T (p.Pro160Ser) c.1042C>T (p.Pro348Ser) c.967C>T (p.Pro323Ser) c.721C>T (p.Pro241Ser) c.*611C>T (n.*611C>T) c.1063C>T (p.Pro355Ser) c.988C>T (p.Pro330Ser) | |
| 2 | g.174749981G>C | CA349336117 | CHRNA1 | c.478C>G (p.Pro160Ala) c.1042C>G (p.Pro348Ala) c.967C>G (p.Pro323Ala) c.721C>G (p.Pro241Ala) c.*611C>G (n.*611C>G) c.1063C>G (p.Pro355Ala) c.988C>G (p.Pro330Ala) | |
| 2 | g.174749981G>T | CA349336118 | CHRNA1 | c.478C>A (p.Pro160Thr) c.1042C>A (p.Pro348Thr) c.967C>A (p.Pro323Thr) c.721C>A (p.Pro241Thr) c.*611C>A (n.*611C>A) c.1063C>A (p.Pro355Thr) c.988C>A (p.Pro330Thr) | |
| 2 | g.174749982T>A | CA430022093 | CHRNA1 | c.477A>T (p.Ser159=) c.1041A>T (p.Ser347=) c.966A>T (p.Ser322=) c.720A>T (p.Ser240=) c.*610A>T (n.*610A>T) c.1062A>T (p.Ser354=) c.987A>T (p.Ser329=) | dbSNP |
| 2 | g.174749982T>C | CA430022096 | CHRNA1 | c.477A>G (p.Ser159=) c.1041A>G (p.Ser347=) c.966A>G (p.Ser322=) c.720A>G (p.Ser240=) c.*610A>G (n.*610A>G) c.1062A>G (p.Ser354=) c.987A>G (p.Ser329=) | |
| 2 | g.174749982T>G | CA430022098 | CHRNA1 | c.477A>C (p.Ser159=) c.1041A>C (p.Ser347=) c.966A>C (p.Ser322=) c.720A>C (p.Ser240=) c.*610A>C (n.*610A>C) c.1062A>C (p.Ser354=) c.987A>C (p.Ser329=) | |
| 2 | g.174749982T= | CA1308832516 | CHRNA1 | c.477A= (p.Ser159=) c.1041A= (p.Ser347=) c.966A= (p.Ser322=) c.720A= (p.Ser240=) c.*610A= (n.*610A=) c.1062A= (p.Ser354=) c.987A= (p.Ser329=) | |
| 2 | g.174749983G>A | CA349336119 | CHRNA1 | c.476C>T (p.Ser159Leu) c.1040C>T (p.Ser347Leu) c.965C>T (p.Ser322Leu) c.719C>T (p.Ser240Leu) c.*609C>T (n.*609C>T) c.1061C>T (p.Ser354Leu) c.986C>T (p.Ser329Leu) | |
| 2 | g.174749983G>C | CA349336120 | CHRNA1 | c.476C>G (p.Ser159Ter) c.1040C>G (p.Ser347Ter) c.965C>G (p.Ser322Ter) c.719C>G (p.Ser240Ter) c.*609C>G (n.*609C>G) c.1061C>G (p.Ser354Ter) c.986C>G (p.Ser329Ter) | |
| 2 | g.174749983G>T | CA349336121 | CHRNA1 | c.476C>A (p.Ser159Ter) c.1040C>A (p.Ser347Ter) c.965C>A (p.Ser322Ter) c.719C>A (p.Ser240Ter) c.*609C>A (n.*609C>A) c.1061C>A (p.Ser354Ter) c.986C>A (p.Ser329Ter) | |
| 2 | g.174749984A>C | CA349336123 | CHRNA1 | c.475T>G (p.Ser159Ala) c.1039T>G (p.Ser347Ala) c.964T>G (p.Ser322Ala) c.718T>G (p.Ser240Ala) c.*608T>G (n.*608T>G) c.1060T>G (p.Ser354Ala) c.985T>G (p.Ser329Ala) | |
| 2 | g.174749984A>G | CA349336124 | CHRNA1 | c.475T>C (p.Ser159Pro) c.1039T>C (p.Ser347Pro) c.964T>C (p.Ser322Pro) c.718T>C (p.Ser240Pro) c.*608T>C (n.*608T>C) c.1060T>C (p.Ser354Pro) c.985T>C (p.Ser329Pro) | |
| 2 | g.174749984A>T | CA349336125 | CHRNA1 | c.475T>A (p.Ser159Thr) c.1039T>A (p.Ser347Thr) c.964T>A (p.Ser322Thr) c.718T>A (p.Ser240Thr) c.*608T>A (n.*608T>A) c.1060T>A (p.Ser354Thr) c.985T>A (p.Ser329Thr) | |
| 2 | g.174749985G>A | CA430022108 | CHRNA1 | c.474C>T (p.Arg158=) c.1038C>T (p.Arg346=) c.963C>T (p.Arg321=) c.717C>T (p.Arg239=) c.*607C>T (n.*607C>T) c.1059C>T (p.Arg353=) c.984C>T (p.Arg328=) | |
| 2 | g.174749985G>C | CA430022110 | CHRNA1 | c.474C>G (p.Arg158=) c.1038C>G (p.Arg346=) c.963C>G (p.Arg321=) c.717C>G (p.Arg239=) c.*607C>G (n.*607C>G) c.1059C>G (p.Arg353=) c.984C>G (p.Arg328=) | |
| 2 | g.174749985G>T | CA430022113 | CHRNA1 | c.474C>A (p.Arg158=) c.1038C>A (p.Arg346=) c.963C>A (p.Arg321=) c.717C>A (p.Arg239=) c.*607C>A (n.*607C>A) c.1059C>A (p.Arg353=) c.984C>A (p.Arg328=) | gnomAD v4 |
| 2 | g.174749986C>A | CA349336128 | CHRNA1 | c.473G>T (p.Arg158Leu) c.1037G>T (p.Arg346Leu) c.962G>T (p.Arg321Leu) c.716G>T (p.Arg239Leu) c.*606G>T (n.*606G>T) c.1058G>T (p.Arg353Leu) c.983G>T (p.Arg328Leu) | COSMIC |
| 2 | g.174749986C= | CA1308832517 | CHRNA1 | c.473G= (p.Arg158=) c.1037G= (p.Arg346=) c.962G= (p.Arg321=) c.716G= (p.Arg239=) c.*606G= (n.*606G=) c.1058G= (p.Arg353=) c.983G= (p.Arg328=) | |
| 2 | g.174749986C>G | CA349336126 | CHRNA1 | c.473G>C (p.Arg158Pro) c.1037G>C (p.Arg346Pro) c.962G>C (p.Arg321Pro) c.716G>C (p.Arg239Pro) c.*606G>C (n.*606G>C) c.1058G>C (p.Arg353Pro) c.983G>C (p.Arg328Pro) | |
| 2 | g.174749986C>T | CA1974417 | CHRNA1 | c.473G>A (p.Arg158His) c.1037G>A (p.Arg346His) c.962G>A (p.Arg321His) c.716G>A (p.Arg239His) c.*606G>A (n.*606G>A) c.1058G>A (p.Arg353His) c.983G>A (p.Arg328His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174749987G>A | CA349336130 | CHRNA1 | c.472C>T (p.Arg158Cys) c.1036C>T (p.Arg346Cys) c.961C>T (p.Arg321Cys) c.715C>T (p.Arg239Cys) c.*605C>T (n.*605C>T) c.1057C>T (p.Arg353Cys) c.982C>T (p.Arg328Cys) | dbSNP gnomAD v4 COSMIC |
| 2 | g.174749987G>C | CA349336131 | CHRNA1 | c.472C>G (p.Arg158Gly) c.1036C>G (p.Arg346Gly) c.961C>G (p.Arg321Gly) c.715C>G (p.Arg239Gly) c.*605C>G (n.*605C>G) c.1057C>G (p.Arg353Gly) c.982C>G (p.Arg328Gly) | |
| 2 | g.174749987G= | CA1308832518 | CHRNA1 | c.472C= (p.Arg158=) c.1036C= (p.Arg346=) c.961C= (p.Arg321=) c.715C= (p.Arg239=) c.*605C= (n.*605C=) c.1057C= (p.Arg353=) c.982C= (p.Arg328=) | |
| 2 | g.174749987G>T | CA349336134 | CHRNA1 | c.472C>A (p.Arg158Ser) c.1036C>A (p.Arg346Ser) c.961C>A (p.Arg321Ser) c.715C>A (p.Arg239Ser) c.*605C>A (n.*605C>A) c.1057C>A (p.Arg353Ser) c.982C>A (p.Arg328Ser) | |
| 2 | g.174749988G>A | CA152376 | CHRNA1 | c.471C>T (p.His157=) c.1035C>T (p.His345=) c.960C>T (p.His320=) c.714C>T (p.His238=) c.*604C>T (n.*604C>T) c.1056C>T (p.His352=) c.981C>T (p.His327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174749988G>C | CA60848758 | CHRNA1 | c.471C>G (p.His157Gln) c.1035C>G (p.His345Gln) c.960C>G (p.His320Gln) c.714C>G (p.His238Gln) c.*604C>G (n.*604C>G) c.1056C>G (p.His352Gln) c.981C>G (p.His327Gln) | dbSNP |
| 2 | g.174749988G= | CA1308832519 | CHRNA1 | c.471C= (p.His157=) c.1035C= (p.His345=) c.960C= (p.His320=) c.714C= (p.His238=) c.*604C= (n.*604C=) c.1056C= (p.His352=) c.981C= (p.His327=) | |
| 2 | g.174749988G>T | CA60848769 | CHRNA1 | c.471C>A (p.His157Gln) c.1035C>A (p.His345Gln) c.960C>A (p.His320Gln) c.714C>A (p.His238Gln) c.*604C>A (n.*604C>A) c.1056C>A (p.His352Gln) c.981C>A (p.His327Gln) | dbSNP |
| 2 | g.174749989T>A | CA349336139 | CHRNA1 | c.470A>T (p.His157Leu) c.1034A>T (p.His345Leu) c.959A>T (p.His320Leu) c.713A>T (p.His238Leu) c.*603A>T (n.*603A>T) c.1055A>T (p.His352Leu) c.980A>T (p.His327Leu) | |
| 2 | g.174749989T>C | CA349336141 | CHRNA1 | c.470A>G (p.His157Arg) c.1034A>G (p.His345Arg) c.959A>G (p.His320Arg) c.713A>G (p.His238Arg) c.*603A>G (n.*603A>G) c.1055A>G (p.His352Arg) c.980A>G (p.His327Arg) | |
| 2 | g.174749989T>G | CA349336142 | CHRNA1 | c.470A>C (p.His157Pro) c.1034A>C (p.His345Pro) c.959A>C (p.His320Pro) c.713A>C (p.His238Pro) c.*603A>C (n.*603A>C) c.1055A>C (p.His352Pro) c.980A>C (p.His327Pro) | |
| 2 | g.174749990G>A | CA349336143 | CHRNA1 | c.469C>T (p.His157Tyr) c.1033C>T (p.His345Tyr) c.958C>T (p.His320Tyr) c.712C>T (p.His238Tyr) c.*602C>T (n.*602C>T) c.1054C>T (p.His352Tyr) c.979C>T (p.His327Tyr) | COSMIC |
| 2 | g.174749990G>C | CA349336144 | CHRNA1 | c.469C>G (p.His157Asp) c.1033C>G (p.His345Asp) c.958C>G (p.His320Asp) c.712C>G (p.His238Asp) c.*602C>G (n.*602C>G) c.1054C>G (p.His352Asp) c.979C>G (p.His327Asp) | |
| 2 | g.174749990G>T | CA349336145 | CHRNA1 | c.469C>A (p.His157Asn) c.1033C>A (p.His345Asn) c.958C>A (p.His320Asn) c.712C>A (p.His238Asn) c.*602C>A (n.*602C>A) c.1054C>A (p.His352Asn) c.979C>A (p.His327Asn) | |
| 2 | g.174749991G>A | CA430022149 | CHRNA1 | c.468C>T (p.His156=) c.1032C>T (p.His344=) c.957C>T (p.His319=) c.711C>T (p.His237=) c.*601C>T (n.*601C>T) c.1053C>T (p.His351=) c.978C>T (p.His326=) | gnomAD v4 |
| 2 | g.174749991G>C | CA349336147 | CHRNA1 | c.468C>G (p.His156Gln) c.1032C>G (p.His344Gln) c.957C>G (p.His319Gln) c.711C>G (p.His237Gln) c.*601C>G (n.*601C>G) c.1053C>G (p.His351Gln) c.978C>G (p.His326Gln) | COSMIC |
| 2 | g.174749991G>T | CA349336158 | CHRNA1 | c.468C>A (p.His156Gln) c.1032C>A (p.His344Gln) c.957C>A (p.His319Gln) c.711C>A (p.His237Gln) c.*601C>A (n.*601C>A) c.1053C>A (p.His351Gln) c.978C>A (p.His326Gln) | |
| 2 | g.174749997_174749998del | CA2662020247 | CHRNA1 | c.467_468del (p.His156ProfsTer?) c.1031_1032del (p.His344ProfsTer?) c.956_957del (p.His319ProfsTer?) c.710_711del (p.His237ProfsTer?) c.*600_*601del (n.*600_*601del) c.1052_1053del (p.His351ProfsTer?) c.977_978del (p.His326ProfsTer?) | gnomAD v4 |
| 2 | g.174749992T>A | CA349336161 | CHRNA1 | c.467A>T (p.His156Leu) c.1031A>T (p.His344Leu) c.956A>T (p.His319Leu) c.710A>T (p.His237Leu) c.*600A>T (n.*600A>T) c.1052A>T (p.His351Leu) c.977A>T (p.His326Leu) | |
| 2 | g.174749992T>C | CA349336162 | CHRNA1 | c.467A>G (p.His156Arg) c.1031A>G (p.His344Arg) c.956A>G (p.His319Arg) c.710A>G (p.His237Arg) c.*600A>G (n.*600A>G) c.1052A>G (p.His351Arg) c.977A>G (p.His326Arg) | |
| 2 | g.174749992T>G | CA349336164 | CHRNA1 | c.467A>C (p.His156Pro) c.1031A>C (p.His344Pro) c.956A>C (p.His319Pro) c.710A>C (p.His237Pro) c.*600A>C (n.*600A>C) c.1052A>C (p.His351Pro) c.977A>C (p.His326Pro) | |
| 2 | g.174749993G>A | CA1974418 | CHRNA1 | c.466C>T (p.His156Tyr) c.1030C>T (p.His344Tyr) c.955C>T (p.His319Tyr) c.709C>T (p.His237Tyr) c.*599C>T (n.*599C>T) c.1051C>T (p.His351Tyr) c.976C>T (p.His326Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174749993G>C | CA349336165 | CHRNA1 | c.466C>G (p.His156Asp) c.1030C>G (p.His344Asp) c.955C>G (p.His319Asp) c.709C>G (p.His237Asp) c.*599C>G (n.*599C>G) c.1051C>G (p.His351Asp) c.976C>G (p.His326Asp) | |
| 2 | g.174749993G= | CA1308832520 | CHRNA1 | c.466C= (p.His156=) c.1030C= (p.His344=) c.955C= (p.His319=) c.709C= (p.His237=) c.*599C= (n.*599C=) c.1051C= (p.His351=) c.976C= (p.His326=) | |
| 2 | g.174749993G>T | CA349336167 | CHRNA1 | c.466C>A (p.His156Asn) c.1030C>A (p.His344Asn) c.955C>A (p.His319Asn) c.709C>A (p.His237Asn) c.*599C>A (n.*599C>A) c.1051C>A (p.His351Asn) c.976C>A (p.His326Asn) | |
| 2 | g.174749994T>A | CA430022171 | CHRNA1 | c.465A>T (p.Thr155=) c.1029A>T (p.Thr343=) c.954A>T (p.Thr318=) c.708A>T (p.Thr236=) c.*598A>T (n.*598A>T) c.1050A>T (p.Thr350=) c.975A>T (p.Thr325=) | |
| 2 | g.174749994T>C | CA430022173 | CHRNA1 | c.465A>G (p.Thr155=) c.1029A>G (p.Thr343=) c.954A>G (p.Thr318=) c.708A>G (p.Thr236=) c.*598A>G (n.*598A>G) c.1050A>G (p.Thr350=) c.975A>G (p.Thr325=) | |
| 2 | g.174749994T>G | CA430022175 | CHRNA1 | c.465A>C (p.Thr155=) c.1029A>C (p.Thr343=) c.954A>C (p.Thr318=) c.708A>C (p.Thr236=) c.*598A>C (n.*598A>C) c.1050A>C (p.Thr350=) c.975A>C (p.Thr325=) | ClinVar |
| 2 | g.174749995G>A | CA349336179 | CHRNA1 | c.464C>T (p.Thr155Ile) c.1028C>T (p.Thr343Ile) c.953C>T (p.Thr318Ile) c.707C>T (p.Thr236Ile) c.*597C>T (n.*597C>T) c.1049C>T (p.Thr350Ile) c.974C>T (p.Thr325Ile) | |
| 2 | g.174749995G>C | CA349336172 | CHRNA1 | c.464C>G (p.Thr155Arg) c.1028C>G (p.Thr343Arg) c.953C>G (p.Thr318Arg) c.707C>G (p.Thr236Arg) c.*597C>G (n.*597C>G) c.1049C>G (p.Thr350Arg) c.974C>G (p.Thr325Arg) | |
| 2 | g.174749995G>T | CA349336177 | CHRNA1 | c.464C>A (p.Thr155Lys) c.1028C>A (p.Thr343Lys) c.953C>A (p.Thr318Lys) c.707C>A (p.Thr236Lys) c.*597C>A (n.*597C>A) c.1049C>A (p.Thr350Lys) c.974C>A (p.Thr325Lys) | gnomAD v4 |
| 2 | g.174749996T>A | CA349336183 | CHRNA1 | c.463A>T (p.Thr155Ser) c.1027A>T (p.Thr343Ser) c.952A>T (p.Thr318Ser) c.706A>T (p.Thr236Ser) c.*596A>T (n.*596A>T) c.1048A>T (p.Thr350Ser) c.973A>T (p.Thr325Ser) | |
| 2 | g.174749996T>C | CA349336185 | CHRNA1 | c.463A>G (p.Thr155Ala) c.1027A>G (p.Thr343Ala) c.952A>G (p.Thr318Ala) c.706A>G (p.Thr236Ala) c.*596A>G (n.*596A>G) c.1048A>G (p.Thr350Ala) c.973A>G (p.Thr325Ala) | gnomAD v4 |
| 2 | g.174749996T>G | CA349336187 | CHRNA1 | c.463A>C (p.Thr155Pro) c.1027A>C (p.Thr343Pro) c.952A>C (p.Thr318Pro) c.706A>C (p.Thr236Pro) c.*596A>C (n.*596A>C) c.1048A>C (p.Thr350Pro) c.973A>C (p.Thr325Pro) | gnomAD v4 |
| 2 | g.174749997G>A | CA430022188 | CHRNA1 | c.462C>T (p.Asn154=) c.1026C>T (p.Asn342=) c.951C>T (p.Asn317=) c.705C>T (p.Asn235=) c.*595C>T (n.*595C>T) c.1047C>T (p.Asn349=) c.972C>T (p.Asn324=) | |
| 2 | g.174749997G>C | CA349336190 | CHRNA1 | c.462C>G (p.Asn154Lys) c.1026C>G (p.Asn342Lys) c.951C>G (p.Asn317Lys) c.705C>G (p.Asn235Lys) c.*595C>G (n.*595C>G) c.1047C>G (p.Asn349Lys) c.972C>G (p.Asn324Lys) | |
| 2 | g.174749997G>T | CA349336191 | CHRNA1 | c.462C>A (p.Asn154Lys) c.1026C>A (p.Asn342Lys) c.951C>A (p.Asn317Lys) c.705C>A (p.Asn235Lys) c.*595C>A (n.*595C>A) c.1047C>A (p.Asn349Lys) c.972C>A (p.Asn324Lys) | |
| 2 | g.174749998T>A | CA349336192 | CHRNA1 | c.461A>T (p.Asn154Ile) c.1025A>T (p.Asn342Ile) c.950A>T (p.Asn317Ile) c.704A>T (p.Asn235Ile) c.*594A>T (n.*594A>T) c.1046A>T (p.Asn349Ile) c.971A>T (p.Asn324Ile) | |
| 2 | g.174749998T>C | CA349336195 | CHRNA1 | c.461A>G (p.Asn154Ser) c.1025A>G (p.Asn342Ser) c.950A>G (p.Asn317Ser) c.704A>G (p.Asn235Ser) c.*594A>G (n.*594A>G) c.1046A>G (p.Asn349Ser) c.971A>G (p.Asn324Ser) | gnomAD v4 |
| 2 | g.174749998T>G | CA349336194 | CHRNA1 | c.461A>C (p.Asn154Thr) c.1025A>C (p.Asn342Thr) c.950A>C (p.Asn317Thr) c.704A>C (p.Asn235Thr) c.*594A>C (n.*594A>C) c.1046A>C (p.Asn349Thr) c.971A>C (p.Asn324Thr) | |
| 2 | g.174749999T>A | CA349336197 | CHRNA1 | c.460A>T (p.Asn154Tyr) c.1024A>T (p.Asn342Tyr) c.949A>T (p.Asn317Tyr) c.703A>T (p.Asn235Tyr) c.*593A>T (n.*593A>T) c.1045A>T (p.Asn349Tyr) c.970A>T (p.Asn324Tyr) | |
| 2 | g.174749999T>C | CA349336199 | CHRNA1 | c.460A>G (p.Asn154Asp) c.1024A>G (p.Asn342Asp) c.949A>G (p.Asn317Asp) c.703A>G (p.Asn235Asp) c.*593A>G (n.*593A>G) c.1045A>G (p.Asn349Asp) c.970A>G (p.Asn324Asp) | |
| 2 | g.174749999T>G | CA349336202 | CHRNA1 | c.460A>C (p.Asn154His) c.1024A>C (p.Asn342His) c.949A>C (p.Asn317His) c.703A>C (p.Asn235His) c.*593A>C (n.*593A>C) c.1045A>C (p.Asn349His) c.970A>C (p.Asn324His) | |
| 2 | g.174750000G>A | CA430022198 | CHRNA1 | c.459C>T (p.Ile153=) c.1023C>T (p.Ile341=) c.948C>T (p.Ile316=) c.702C>T (p.Ile234=) c.*592C>T (n.*592C>T) c.1044C>T (p.Ile348=) c.969C>T (p.Ile323=) | |
| 2 | g.174750000G>C | CA349336204 | CHRNA1 | c.459C>G (p.Ile153Met) c.1023C>G (p.Ile341Met) c.948C>G (p.Ile316Met) c.702C>G (p.Ile234Met) c.*592C>G (n.*592C>G) c.1044C>G (p.Ile348Met) c.969C>G (p.Ile323Met) | |
| 2 | g.174750000G= | CA1308832521 | CHRNA1 | c.459C= (p.Ile153=) c.1023C= (p.Ile341=) c.948C= (p.Ile316=) c.702C= (p.Ile234=) c.*592C= (n.*592C=) c.1044C= (p.Ile348=) c.969C= (p.Ile323=) | |
| 2 | g.174750000G>T | CA247022 | CHRNA1 | c.459C>A (p.Ile153=) c.1023C>A (p.Ile341=) c.948C>A (p.Ile316=) c.702C>A (p.Ile234=) c.*592C>A (n.*592C>A) c.1044C>A (p.Ile348=) c.969C>A (p.Ile323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750001A>C | CA349336207 | CHRNA1 | c.458T>G (p.Ile153Ser) c.1022T>G (p.Ile341Ser) c.947T>G (p.Ile316Ser) c.701T>G (p.Ile234Ser) c.*591T>G (n.*591T>G) c.1043T>G (p.Ile348Ser) c.968T>G (p.Ile323Ser) | |
| 2 | g.174750001A>G | CA349336211 | CHRNA1 | c.458T>C (p.Ile153Thr) c.1022T>C (p.Ile341Thr) c.947T>C (p.Ile316Thr) c.701T>C (p.Ile234Thr) c.*591T>C (n.*591T>C) c.1043T>C (p.Ile348Thr) c.968T>C (p.Ile323Thr) | |
| 2 | g.174750001A>T | CA349336213 | CHRNA1 | c.458T>A (p.Ile153Asn) c.1022T>A (p.Ile341Asn) c.947T>A (p.Ile316Asn) c.701T>A (p.Ile234Asn) c.*591T>A (n.*591T>A) c.1043T>A (p.Ile348Asn) c.968T>A (p.Ile323Asn) | |
| 2 | g.174750002T>A | CA349336217 | CHRNA1 | c.457A>T (p.Ile153Phe) c.1021A>T (p.Ile341Phe) c.946A>T (p.Ile316Phe) c.700A>T (p.Ile234Phe) c.*590A>T (n.*590A>T) c.1042A>T (p.Ile348Phe) c.967A>T (p.Ile323Phe) | |
| 2 | g.174750002T>C | CA349336220 | CHRNA1 | c.457A>G (p.Ile153Val) c.1021A>G (p.Ile341Val) c.946A>G (p.Ile316Val) c.700A>G (p.Ile234Val) c.*590A>G (n.*590A>G) c.1042A>G (p.Ile348Val) c.967A>G (p.Ile323Val) | |
| 2 | g.174750002T>G | CA349336224 | CHRNA1 | c.457A>C (p.Ile153Leu) c.1021A>C (p.Ile341Leu) c.946A>C (p.Ile316Leu) c.700A>C (p.Ile234Leu) c.*590A>C (n.*590A>C) c.1042A>C (p.Ile348Leu) c.967A>C (p.Ile323Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750002T= | CA1308832522 | CHRNA1 | c.457A= (p.Ile153=) c.1021A= (p.Ile341=) c.946A= (p.Ile316=) c.700A= (p.Ile234=) c.*590A= (n.*590A=) c.1042A= (p.Ile348=) c.967A= (p.Ile323=) | |
| 2 | g.174750003G>A | CA1974419 | CHRNA1 | c.456C>T (p.Val152=) c.1020C>T (p.Val340=) c.945C>T (p.Val315=) c.699C>T (p.Val233=) c.*589C>T (n.*589C>T) c.1041C>T (p.Val347=) c.966C>T (p.Val322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750003G>C | CA430022212 | CHRNA1 | c.456C>G (p.Val152=) c.1020C>G (p.Val340=) c.945C>G (p.Val315=) c.699C>G (p.Val233=) c.*589C>G (n.*589C>G) c.1041C>G (p.Val347=) c.966C>G (p.Val322=) | |
| 2 | g.174750003G= | CA1308832523 | CHRNA1 | c.456C= (p.Val152=) c.1020C= (p.Val340=) c.945C= (p.Val315=) c.699C= (p.Val233=) c.*589C= (n.*589C=) c.1041C= (p.Val347=) c.966C= (p.Val322=) | |
| 2 | g.174750003G>T | CA430022214 | CHRNA1 | c.456C>A (p.Val152=) c.1020C>A (p.Val340=) c.945C>A (p.Val315=) c.699C>A (p.Val233=) c.*589C>A (n.*589C>A) c.1041C>A (p.Val347=) c.966C>A (p.Val322=) | |
| 2 | g.174750004A= | CA1308832524 | CHRNA1 | c.455T= (p.Val152=) c.1019T= (p.Val340=) c.944T= (p.Val315=) c.698T= (p.Val233=) c.*588T= (n.*588T=) c.1040T= (p.Val347=) c.965T= (p.Val322=) | |
| 2 | g.174750004A>C | CA349336233 | CHRNA1 | c.455T>G (p.Val152Gly) c.1019T>G (p.Val340Gly) c.944T>G (p.Val315Gly) c.698T>G (p.Val233Gly) c.*588T>G (n.*588T>G) c.1040T>G (p.Val347Gly) c.965T>G (p.Val322Gly) | |
| 2 | g.174750004A>G | CA349336230 | CHRNA1 | c.455T>C (p.Val152Ala) c.1019T>C (p.Val340Ala) c.944T>C (p.Val315Ala) c.698T>C (p.Val233Ala) c.*588T>C (n.*588T>C) c.1040T>C (p.Val347Ala) c.965T>C (p.Val322Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750004A>T | CA349336236 | CHRNA1 | c.455T>A (p.Val152Asp) c.1019T>A (p.Val340Asp) c.944T>A (p.Val315Asp) c.698T>A (p.Val233Asp) c.*588T>A (n.*588T>A) c.1040T>A (p.Val347Asp) c.965T>A (p.Val322Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750005C>A | CA349336239 | CHRNA1 | c.454G>T (p.Val152Phe) c.1018G>T (p.Val340Phe) c.943G>T (p.Val315Phe) c.697G>T (p.Val233Phe) c.*587G>T (n.*587G>T) c.1039G>T (p.Val347Phe) c.964G>T (p.Val322Phe) | |
| 2 | g.174750005C= | CA1308832526 | CHRNA1 | c.454G= (p.Val152=) c.1018G= (p.Val340=) c.943G= (p.Val315=) c.697G= (p.Val233=) c.*587G= (n.*587G=) c.1039G= (p.Val347=) c.964G= (p.Val322=) | |
| 2 | g.174750005C>G | CA349336242 | CHRNA1 | c.454G>C (p.Val152Leu) c.1018G>C (p.Val340Leu) c.943G>C (p.Val315Leu) c.697G>C (p.Val233Leu) c.*587G>C (n.*587G>C) c.1039G>C (p.Val347Leu) c.964G>C (p.Val322Leu) | |
| 2 | g.174750005C>T | CA1974420 | CHRNA1 | c.454G>A (p.Val152Ile) c.1018G>A (p.Val340Ile) c.943G>A (p.Val315Ile) c.697G>A (p.Val233Ile) c.*587G>A (n.*587G>A) c.1039G>A (p.Val347Ile) c.964G>A (p.Val322Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750005_174750014delinsCGATGACAGT | CA1308832525 | CHRNA1 | c.445_454delinsACTGTCATCG (p.Thr149=) c.1009_1018delinsACTGTCATCG (p.Thr337=) c.934_943delinsACTGTCATCG (p.Thr312=) c.688_697delinsACTGTCATCG (p.Thr230=) c.*578_*587delinsACTGTCATCG (n.*578_*587delinsACTGTCATCG) c.1030_1039delinsACTGTCATCG (p.Thr344=) c.955_964delinsACTGTCATCG (p.Thr319=) | |
| 2 | g.174750006G>A | CA1974421 | CHRNA1 | c.453C>T (p.Ile151=) c.1017C>T (p.Ile339=) c.942C>T (p.Ile314=) c.696C>T (p.Ile232=) c.*586C>T (n.*586C>T) c.1038C>T (p.Ile346=) c.963C>T (p.Ile321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174750006G>C | CA349336246 | CHRNA1 | c.453C>G (p.Ile151Met) c.1017C>G (p.Ile339Met) c.942C>G (p.Ile314Met) c.696C>G (p.Ile232Met) c.*586C>G (n.*586C>G) c.1038C>G (p.Ile346Met) c.963C>G (p.Ile321Met) | |
| 2 | g.174750006G= | CA1308832527 | CHRNA1 | c.453C= (p.Ile151=) c.1017C= (p.Ile339=) c.942C= (p.Ile314=) c.696C= (p.Ile232=) c.*586C= (n.*586C=) c.1038C= (p.Ile346=) c.963C= (p.Ile321=) | |
| 2 | g.174750006G>T | CA430022226 | CHRNA1 | c.453C>A (p.Ile151=) c.1017C>A (p.Ile339=) c.942C>A (p.Ile314=) c.696C>A (p.Ile232=) c.*586C>A (n.*586C>A) c.1038C>A (p.Ile346=) c.963C>A (p.Ile321=) | gnomAD v4 |
| 2 | g.174750011_174750019del | CA16617325 | CHRNA1 | c.445_453del (p.Thr149_Ile151del) c.1009_1017del (p.Thr337_Ile339del) c.934_942del (p.Thr312_Ile314del) c.688_696del (p.Thr230_Ile232del) c.*578_*586del (n.*578_*586del) c.1030_1038del (p.Thr344_Ile346del) c.955_963del (p.Thr319_Ile321del) | ClinVar dbSNP |
| 2 | g.174750007A>C | CA349336249 | CHRNA1 | c.452T>G (p.Ile151Ser) c.1016T>G (p.Ile339Ser) c.941T>G (p.Ile314Ser) c.695T>G (p.Ile232Ser) c.*585T>G (n.*585T>G) c.1037T>G (p.Ile346Ser) c.962T>G (p.Ile321Ser) | |
| 2 | g.174750007A>G | CA349336250 | CHRNA1 | c.452T>C (p.Ile151Thr) c.1016T>C (p.Ile339Thr) c.941T>C (p.Ile314Thr) c.695T>C (p.Ile232Thr) c.*585T>C (n.*585T>C) c.1037T>C (p.Ile346Thr) c.962T>C (p.Ile321Thr) | |
| 2 | g.174750007A>T | CA349336252 | CHRNA1 | c.452T>A (p.Ile151Asn) c.1016T>A (p.Ile339Asn) c.941T>A (p.Ile314Asn) c.695T>A (p.Ile232Asn) c.*585T>A (n.*585T>A) c.1037T>A (p.Ile346Asn) c.962T>A (p.Ile321Asn) | |
| 2 | g.174750007_174750008insATGGGGGGAGAAAATGGCAAGTGTGTTCGGTTCGGGGGTGCGTACTTTGGCGACCCGCGGCCAGGCGGGGGACTATACGGTGTCGGCGGTGCAGACTGTCGAGCGGGGCGGGCAGGAGTTCCGGCT | CA2561961188 | CHRNA1 | c.451_452insAGCCGGAACTCCTGCCCGCCCCGCTCGACAGTCTGCACCGCCGACACCGTATAGTCCCCCGCCTGGCCGCGGGTCGCCAAAGTACGCACCCCCGAACCGAACACACTTGCCATTTTCTCCCCCCAT (p.Ile151delinsLysProGluLeuLeuProAlaProLeuAspSerLeuHisArgArgHisArgIleValProArgLeuAlaAlaGlyArgGlnSerThrHisProArgThrGluHisThrCysHisPheLeuProProPhe) c.1015_1016insAGCCGGAACTCCTGCCCGCCCCGCTCGACAGTCTGCACCGCCGACACCGTATAGTCCCCCGCCTGGCCGCGGGTCGCCAAAGTACGCACCCCCGAACCGAACACACTTGCCATTTTCTCCCCCCAT (p.Ile339delinsLysProGluLeuLeuProAlaProLeuAspSerLeuHisArgArgHisArgIleValProArgLeuAlaAlaGlyArgGlnSerThrHisProArgThrGluHisThrCysHisPheLeuProProPhe) c.940_941insAGCCGGAACTCCTGCCCGCCCCGCTCGACAGTCTGCACCGCCGACACCGTATAGTCCCCCGCCTGGCCGCGGGTCGCCAAAGTACGCACCCCCGAACCGAACACACTTGCCATTTTCTCCCCCCAT (p.Ile314delinsLysProGluLeuLeuProAlaProLeuAspSerLeuHisArgArgHisArgIleValProArgLeuAlaAlaGlyArgGlnSerThrHisProArgThrGluHisThrCysHisPheLeuProProPhe) c.694_695insAGCCGGAACTCCTGCCCGCCCCGCTCGACAGTCTGCACCGCCGACACCGTATAGTCCCCCGCCTGGCCGCGGGTCGCCAAAGTACGCACCCCCGAACCGAACACACTTGCCATTTTCTCCCCCCAT (p.Ile232delinsLysProGluLeuLeuProAlaProLeuAspSerLeuHisArgArgHisArgIleValProArgLeuAlaAlaGlyArgGlnSerThrHisProArgThrGluHisThrCysHisPheLeuProProPhe) c.*584_*585insAGCCGGAACTCCTGCCCGCCCCGCTCGACAGTCTGCACCGCCGACACCGTATAGTCCCCCGCCTGGCCGCGGGTCGCCAAAGTACGCACCCCCGAACCGAACACACTTGCCATTTTCTCCCCCCAT (n.*584_*585insAGCCGGAACTCCTGCCCGCCCCGCTCGACAGTCTGCACCGCCGACACCGTATAGTCCCCCGCCTGGCCGCGGGTCGCCAAAGTACGCACCCCCGAACCGAACACACTTGCCATTTTCTCCCCCCAT) c.1036_1037insAGCCGGAACTCCTGCCCGCCCCGCTCGACAGTCTGCACCGCCGACACCGTATAGTCCCCCGCCTGGCCGCGGGTCGCCAAAGTACGCACCCCCGAACCGAACACACTTGCCATTTTCTCCCCCCAT (p.Ile346delinsLysProGluLeuLeuProAlaProLeuAspSerLeuHisArgArgHisArgIleValProArgLeuAlaAlaGlyArgGlnSerThrHisProArgThrGluHisThrCysHisPheLeuProProPhe) c.961_962insAGCCGGAACTCCTGCCCGCCCCGCTCGACAGTCTGCACCGCCGACACCGTATAGTCCCCCGCCTGGCCGCGGGTCGCCAAAGTACGCACCCCCGAACCGAACACACTTGCCATTTTCTCCCCCCAT (p.Ile321delinsLysProGluLeuLeuProAlaProLeuAspSerLeuHisArgArgHisArgIleValProArgLeuAlaAlaGlyArgGlnSerThrHisProArgThrGluHisThrCysHisPheLeuProProPhe) | |
| 2 | g.174750008T>A | CA349336254 | CHRNA1 | c.451A>T (p.Ile151Phe) c.1015A>T (p.Ile339Phe) c.940A>T (p.Ile314Phe) c.694A>T (p.Ile232Phe) c.*584A>T (n.*584A>T) c.1036A>T (p.Ile346Phe) c.961A>T (p.Ile321Phe) | gnomAD v4 |
| 2 | g.174750008T>C | CA349336256 | CHRNA1 | c.451A>G (p.Ile151Val) c.1015A>G (p.Ile339Val) c.940A>G (p.Ile314Val) c.694A>G (p.Ile232Val) c.*584A>G (n.*584A>G) c.1036A>G (p.Ile346Val) c.961A>G (p.Ile321Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174750008T>G | CA349336258 | CHRNA1 | c.451A>C (p.Ile151Leu) c.1015A>C (p.Ile339Leu) c.940A>C (p.Ile314Leu) c.694A>C (p.Ile232Leu) c.*584A>C (n.*584A>C) c.1036A>C (p.Ile346Leu) c.961A>C (p.Ile321Leu) | |
| 2 | g.174750008T= | CA1308832528 | CHRNA1 | c.451A= (p.Ile151=) c.1015A= (p.Ile339=) c.940A= (p.Ile314=) c.694A= (p.Ile232=) c.*584A= (n.*584A=) c.1036A= (p.Ile346=) c.961A= (p.Ile321=) | |
| 2 | g.174750009G>A | CA430022237 | CHRNA1 | c.450C>T (p.Val150=) c.1014C>T (p.Val338=) c.939C>T (p.Val313=) c.693C>T (p.Val231=) c.*583C>T (n.*583C>T) c.1035C>T (p.Val345=) c.960C>T (p.Val320=) | dbSNP |
| 2 | g.174750009G>C | CA430022243 | CHRNA1 | c.450C>G (p.Val150=) c.1014C>G (p.Val338=) c.939C>G (p.Val313=) c.693C>G (p.Val231=) c.*583C>G (n.*583C>G) c.1035C>G (p.Val345=) c.960C>G (p.Val320=) | |
| 2 | g.174750009G>T | CA430022241 | CHRNA1 | c.450C>A (p.Val150=) c.1014C>A (p.Val338=) c.939C>A (p.Val313=) c.693C>A (p.Val231=) c.*583C>A (n.*583C>A) c.1035C>A (p.Val345=) c.960C>A (p.Val320=) | |
| 2 | g.174750010A>C | CA349336259 | CHRNA1 | c.449T>G (p.Val150Gly) c.1013T>G (p.Val338Gly) c.938T>G (p.Val313Gly) c.692T>G (p.Val231Gly) c.*582T>G (n.*582T>G) c.1034T>G (p.Val345Gly) c.959T>G (p.Val320Gly) | |
| 2 | g.174750010A>G | CA349336261 | CHRNA1 | c.449T>C (p.Val150Ala) c.1013T>C (p.Val338Ala) c.938T>C (p.Val313Ala) c.692T>C (p.Val231Ala) c.*582T>C (n.*582T>C) c.1034T>C (p.Val345Ala) c.959T>C (p.Val320Ala) | |
| 2 | g.174750010A>T | CA349336262 | CHRNA1 | c.449T>A (p.Val150Asp) c.1013T>A (p.Val338Asp) c.938T>A (p.Val313Asp) c.692T>A (p.Val231Asp) c.*582T>A (n.*582T>A) c.1034T>A (p.Val345Asp) c.959T>A (p.Val320Asp) | |
| 2 | g.174750011C>A | CA349336268 | CHRNA1 | c.448G>T (p.Val150Phe) c.1012G>T (p.Val338Phe) c.937G>T (p.Val313Phe) c.691G>T (p.Val231Phe) c.*581G>T (n.*581G>T) c.1033G>T (p.Val345Phe) c.958G>T (p.Val320Phe) | |
| 2 | g.174750011C>G | CA349336264 | CHRNA1 | c.448G>C (p.Val150Leu) c.1012G>C (p.Val338Leu) c.937G>C (p.Val313Leu) c.691G>C (p.Val231Leu) c.*581G>C (n.*581G>C) c.1033G>C (p.Val345Leu) c.958G>C (p.Val320Leu) | |
| 2 | g.174750011C>T | CA349336267 | CHRNA1 | c.448G>A (p.Val150Ile) c.1012G>A (p.Val338Ile) c.937G>A (p.Val313Ile) c.691G>A (p.Val231Ile) c.*581G>A (n.*581G>A) c.1033G>A (p.Val345Ile) c.958G>A (p.Val320Ile) | |
| 2 | g.174750012A= | CA1308832529 | CHRNA1 | c.447T= (p.Thr149=) c.1011T= (p.Thr337=) c.936T= (p.Thr312=) c.690T= (p.Thr230=) c.*580T= (n.*580T=) c.1032T= (p.Thr344=) c.957T= (p.Thr319=) | |
| 2 | g.174750012A>C | CA1974422 | CHRNA1 | c.447T>G (p.Thr149=) c.1011T>G (p.Thr337=) c.936T>G (p.Thr312=) c.690T>G (p.Thr230=) c.*580T>G (n.*580T>G) c.1032T>G (p.Thr344=) c.957T>G (p.Thr319=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174750012A>G | CA60848800 | CHRNA1 | c.447T>C (p.Thr149=) c.1011T>C (p.Thr337=) c.936T>C (p.Thr312=) c.690T>C (p.Thr230=) c.*580T>C (n.*580T>C) c.1032T>C (p.Thr344=) c.957T>C (p.Thr319=) | dbSNP |
| 2 | g.174750012A>T | CA430022256 | CHRNA1 | c.447T>A (p.Thr149=) c.1011T>A (p.Thr337=) c.936T>A (p.Thr312=) c.690T>A (p.Thr230=) c.*580T>A (n.*580T>A) c.1032T>A (p.Thr344=) c.957T>A (p.Thr319=) | |
| 2 | g.174750013G>A | CA60848807 | CHRNA1 | c.446C>T (p.Thr149Ile) c.1010C>T (p.Thr337Ile) c.935C>T (p.Thr312Ile) c.689C>T (p.Thr230Ile) c.*579C>T (n.*579C>T) c.1031C>T (p.Thr344Ile) c.956C>T (p.Thr319Ile) | dbSNP gnomAD v4 |
| 2 | g.174750013G>C | CA349336271 | CHRNA1 | c.446C>G (p.Thr149Ser) c.1010C>G (p.Thr337Ser) c.935C>G (p.Thr312Ser) c.689C>G (p.Thr230Ser) c.*579C>G (n.*579C>G) c.1031C>G (p.Thr344Ser) c.956C>G (p.Thr319Ser) | |
| 2 | g.174750013G= | CA1308832530 | CHRNA1 | c.446C= (p.Thr149=) c.1010C= (p.Thr337=) c.935C= (p.Thr312=) c.689C= (p.Thr230=) c.*579C= (n.*579C=) c.1031C= (p.Thr344=) c.956C= (p.Thr319=) | |
| 2 | g.174750013G>T | CA1974423 | CHRNA1 | c.446C>A (p.Thr149Asn) c.1010C>A (p.Thr337Asn) c.935C>A (p.Thr312Asn) c.689C>A (p.Thr230Asn) c.*579C>A (n.*579C>A) c.1031C>A (p.Thr344Asn) c.956C>A (p.Thr319Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174750014T>A | CA349336273 | CHRNA1 | c.445A>T (p.Thr149Ser) c.1009A>T (p.Thr337Ser) c.934A>T (p.Thr312Ser) c.688A>T (p.Thr230Ser) c.*578A>T (n.*578A>T) c.1030A>T (p.Thr344Ser) c.955A>T (p.Thr319Ser) | |
| 2 | g.174750014T>C | CA349336275 | CHRNA1 | c.445A>G (p.Thr149Ala) c.1009A>G (p.Thr337Ala) c.934A>G (p.Thr312Ala) c.688A>G (p.Thr230Ala) c.*578A>G (n.*578A>G) c.1030A>G (p.Thr344Ala) c.955A>G (p.Thr319Ala) | |
| 2 | g.174750014T>G | CA349336276 | CHRNA1 | c.445A>C (p.Thr149Pro) c.1009A>C (p.Thr337Pro) c.934A>C (p.Thr312Pro) c.688A>C (p.Thr230Pro) c.*578A>C (n.*578A>C) c.1030A>C (p.Thr344Pro) c.955A>C (p.Thr319Pro) | |
| 2 | g.174750022_174750024dup | CA537763873 | CHRNA1 | c.443_445dup (p.Ile148_Thr149insIle) c.1007_1009dup (p.Ile336_Thr337insIle) c.932_934dup (p.Ile311_Thr312insIle) c.686_688dup (p.Ile229_Thr230insIle) c.*576_*578dup (n.*576_*578dup) c.1028_1030dup (p.Ile343_Thr344insIle) c.953_955dup (p.Ile318_Thr319insIle) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750015G>A | CA430022264 | CHRNA1 | c.444C>T (p.Ile148=) c.1008C>T (p.Ile336=) c.933C>T (p.Ile311=) c.687C>T (p.Ile229=) c.*577C>T (n.*577C>T) c.1029C>T (p.Ile343=) c.954C>T (p.Ile318=) | |
| 2 | g.174750015G>C | CA349336278 | CHRNA1 | c.444C>G (p.Ile148Met) c.1008C>G (p.Ile336Met) c.933C>G (p.Ile311Met) c.687C>G (p.Ile229Met) c.*577C>G (n.*577C>G) c.1029C>G (p.Ile343Met) c.954C>G (p.Ile318Met) | |
| 2 | g.174750015G>T | CA430022269 | CHRNA1 | c.444C>A (p.Ile148=) c.1008C>A (p.Ile336=) c.933C>A (p.Ile311=) c.687C>A (p.Ile229=) c.*577C>A (n.*577C>A) c.1029C>A (p.Ile343=) c.954C>A (p.Ile318=) | |
| 2 | g.174750016A>C | CA349336281 | CHRNA1 | c.443T>G (p.Ile148Ser) c.1007T>G (p.Ile336Ser) c.932T>G (p.Ile311Ser) c.686T>G (p.Ile229Ser) c.*576T>G (n.*576T>G) c.1028T>G (p.Ile343Ser) c.953T>G (p.Ile318Ser) | |
| 2 | g.174750016A>G | CA349336283 | CHRNA1 | c.443T>C (p.Ile148Thr) c.1007T>C (p.Ile336Thr) c.932T>C (p.Ile311Thr) c.686T>C (p.Ile229Thr) c.*576T>C (n.*576T>C) c.1028T>C (p.Ile343Thr) c.953T>C (p.Ile318Thr) | |
| 2 | g.174750016A>T | CA349336284 | CHRNA1 | c.443T>A (p.Ile148Asn) c.1007T>A (p.Ile336Asn) c.932T>A (p.Ile311Asn) c.686T>A (p.Ile229Asn) c.*576T>A (n.*576T>A) c.1028T>A (p.Ile343Asn) c.953T>A (p.Ile318Asn) | |
| 2 | g.174750017T>A | CA349336288 | CHRNA1 | c.442A>T (p.Ile148Phe) c.1006A>T (p.Ile336Phe) c.931A>T (p.Ile311Phe) c.685A>T (p.Ile229Phe) c.*575A>T (n.*575A>T) c.1027A>T (p.Ile343Phe) c.952A>T (p.Ile318Phe) | |
| 2 | g.174750017T>C | CA349336289 | CHRNA1 | c.442A>G (p.Ile148Val) c.1006A>G (p.Ile336Val) c.931A>G (p.Ile311Val) c.685A>G (p.Ile229Val) c.*575A>G (n.*575A>G) c.1027A>G (p.Ile343Val) c.952A>G (p.Ile318Val) | gnomAD v4 |
| 2 | g.174750017T>G | CA349336286 | CHRNA1 | c.442A>C (p.Ile148Leu) c.1006A>C (p.Ile336Leu) c.931A>C (p.Ile311Leu) c.685A>C (p.Ile229Leu) c.*575A>C (n.*575A>C) c.1027A>C (p.Ile343Leu) c.952A>C (p.Ile318Leu) | |
| 2 | g.174750018G>A | CA430022281 | CHRNA1 | c.441C>T (p.Ile147=) c.1005C>T (p.Ile335=) c.930C>T (p.Ile310=) c.684C>T (p.Ile228=) c.*574C>T (n.*574C>T) c.1026C>T (p.Ile342=) c.951C>T (p.Ile317=) | |
| 2 | g.174750018G>C | CA349336293 | CHRNA1 | c.441C>G (p.Ile147Met) c.1005C>G (p.Ile335Met) c.930C>G (p.Ile310Met) c.684C>G (p.Ile228Met) c.*574C>G (n.*574C>G) c.1026C>G (p.Ile342Met) c.951C>G (p.Ile317Met) | |
| 2 | g.174750018G>T | CA430022285 | CHRNA1 | c.441C>A (p.Ile147=) c.1005C>A (p.Ile335=) c.930C>A (p.Ile310=) c.684C>A (p.Ile228=) c.*574C>A (n.*574C>A) c.1026C>A (p.Ile342=) c.951C>A (p.Ile317=) | |
| 2 | g.174750019A>C | CA349336295 | CHRNA1 | c.440T>G (p.Ile147Ser) c.1004T>G (p.Ile335Ser) c.929T>G (p.Ile310Ser) c.683T>G (p.Ile228Ser) c.*573T>G (n.*573T>G) c.1025T>G (p.Ile342Ser) c.950T>G (p.Ile317Ser) | |
| 2 | g.174750019A>G | CA349336297 | CHRNA1 | c.440T>C (p.Ile147Thr) c.1004T>C (p.Ile335Thr) c.929T>C (p.Ile310Thr) c.683T>C (p.Ile228Thr) c.*573T>C (n.*573T>C) c.1025T>C (p.Ile342Thr) c.950T>C (p.Ile317Thr) | |
| 2 | g.174750019A>T | CA349336299 | CHRNA1 | c.440T>A (p.Ile147Asn) c.1004T>A (p.Ile335Asn) c.929T>A (p.Ile310Asn) c.683T>A (p.Ile228Asn) c.*573T>A (n.*573T>A) c.1025T>A (p.Ile342Asn) c.950T>A (p.Ile317Asn) | |
| 2 | g.174750020T>A | CA349336301 | CHRNA1 | c.439A>T (p.Ile147Phe) c.1003A>T (p.Ile335Phe) c.928A>T (p.Ile310Phe) c.682A>T (p.Ile228Phe) c.*572A>T (n.*572A>T) c.1024A>T (p.Ile342Phe) c.949A>T (p.Ile317Phe) | |
| 2 | g.174750020T>C | CA349336303 | CHRNA1 | c.439A>G (p.Ile147Val) c.1003A>G (p.Ile335Val) c.928A>G (p.Ile310Val) c.682A>G (p.Ile228Val) c.*572A>G (n.*572A>G) c.1024A>G (p.Ile342Val) c.949A>G (p.Ile317Val) | |
| 2 | g.174750020T>G | CA349336304 | CHRNA1 | c.439A>C (p.Ile147Leu) c.1003A>C (p.Ile335Leu) c.928A>C (p.Ile310Leu) c.682A>C (p.Ile228Leu) c.*572A>C (n.*572A>C) c.1024A>C (p.Ile342Leu) c.949A>C (p.Ile317Leu) | |
| 2 | g.174750021G>A | CA430022297 | CHRNA1 | c.438C>T (p.Ile146=) c.1002C>T (p.Ile334=) c.927C>T (p.Ile309=) c.681C>T (p.Ile227=) c.*571C>T (n.*571C>T) c.1023C>T (p.Ile341=) c.948C>T (p.Ile316=) | |
| 2 | g.174750021G>C | CA349336306 | CHRNA1 | c.438C>G (p.Ile146Met) c.1002C>G (p.Ile334Met) c.927C>G (p.Ile309Met) c.681C>G (p.Ile227Met) c.*571C>G (n.*571C>G) c.1023C>G (p.Ile341Met) c.948C>G (p.Ile316Met) | |
| 2 | g.174750021G= | CA1308832531 | CHRNA1 | c.438C= (p.Ile146=) c.1002C= (p.Ile334=) c.927C= (p.Ile309=) c.681C= (p.Ile227=) c.*571C= (n.*571C=) c.1023C= (p.Ile341=) c.948C= (p.Ile316=) | |
| 2 | g.174750021G>T | CA1974424 | CHRNA1 | c.438C>A (p.Ile146=) c.1002C>A (p.Ile334=) c.927C>A (p.Ile309=) c.681C>A (p.Ile227=) c.*571C>A (n.*571C>A) c.1023C>A (p.Ile341=) c.948C>A (p.Ile316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750022A>C | CA349336308 | CHRNA1 | c.437T>G (p.Ile146Ser) c.1001T>G (p.Ile334Ser) c.926T>G (p.Ile309Ser) c.680T>G (p.Ile227Ser) c.*570T>G (n.*570T>G) c.1022T>G (p.Ile341Ser) c.947T>G (p.Ile316Ser) | |
| 2 | g.174750022A>G | CA349336309 | CHRNA1 | c.437T>C (p.Ile146Thr) c.1001T>C (p.Ile334Thr) c.926T>C (p.Ile309Thr) c.680T>C (p.Ile227Thr) c.*570T>C (n.*570T>C) c.1022T>C (p.Ile341Thr) c.947T>C (p.Ile316Thr) | gnomAD v4 |
| 2 | g.174750022A>T | CA349336310 | CHRNA1 | c.437T>A (p.Ile146Asn) c.1001T>A (p.Ile334Asn) c.926T>A (p.Ile309Asn) c.680T>A (p.Ile227Asn) c.*570T>A (n.*570T>A) c.1022T>A (p.Ile341Asn) c.947T>A (p.Ile316Asn) | |
| 2 | g.174750023T>A | CA349336312 | CHRNA1 | c.436A>T (p.Ile146Phe) c.1000A>T (p.Ile334Phe) c.925A>T (p.Ile309Phe) c.679A>T (p.Ile227Phe) c.*569A>T (n.*569A>T) c.1021A>T (p.Ile341Phe) c.946A>T (p.Ile316Phe) | |
| 2 | g.174750023T>C | CA349336313 | CHRNA1 | c.436A>G (p.Ile146Val) c.1000A>G (p.Ile334Val) c.925A>G (p.Ile309Val) c.679A>G (p.Ile227Val) c.*569A>G (n.*569A>G) c.1021A>G (p.Ile341Val) c.946A>G (p.Ile316Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750023T>G | CA60848817 | CHRNA1 | c.436A>C (p.Ile146Leu) c.1000A>C (p.Ile334Leu) c.925A>C (p.Ile309Leu) c.679A>C (p.Ile227Leu) c.*569A>C (n.*569A>C) c.1021A>C (p.Ile341Leu) c.946A>C (p.Ile316Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174750023T= | CA1308832532 | CHRNA1 | c.436A= (p.Ile146=) c.1000A= (p.Ile334=) c.925A= (p.Ile309=) c.679A= (p.Ile227=) c.*569A= (n.*569A=) c.1021A= (p.Ile341=) c.946A= (p.Ile316=) | |
| 2 | g.174750024G>A | CA430022306 | CHRNA1 | c.435C>T (p.Ser145=) c.999C>T (p.Ser333=) c.924C>T (p.Ser308=) c.678C>T (p.Ser226=) c.*568C>T (n.*568C>T) c.1020C>T (p.Ser340=) c.945C>T (p.Ser315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174750024G>C | CA430022307 | CHRNA1 | c.435C>G (p.Ser145=) c.999C>G (p.Ser333=) c.924C>G (p.Ser308=) c.678C>G (p.Ser226=) c.*568C>G (n.*568C>G) c.1020C>G (p.Ser340=) c.945C>G (p.Ser315=) | |
| 2 | g.174750024G= | CA1308832533 | CHRNA1 | c.435C= (p.Ser145=) c.999C= (p.Ser333=) c.924C= (p.Ser308=) c.678C= (p.Ser226=) c.*568C= (n.*568C=) c.1020C= (p.Ser340=) c.945C= (p.Ser315=) | |
| 2 | g.174750024G>T | CA430022310 | CHRNA1 | c.435C>A (p.Ser145=) c.999C>A (p.Ser333=) c.924C>A (p.Ser308=) c.678C>A (p.Ser226=) c.*568C>A (n.*568C>A) c.1020C>A (p.Ser340=) c.945C>A (p.Ser315=) | |
| 2 | g.174750025G>A | CA349336314 | CHRNA1 | c.434C>T (p.Ser145Phe) c.998C>T (p.Ser333Phe) c.923C>T (p.Ser308Phe) c.677C>T (p.Ser226Phe) c.*567C>T (n.*567C>T) c.1019C>T (p.Ser340Phe) c.944C>T (p.Ser315Phe) | ClinVar dbSNP |
| 2 | g.174750025G>C | CA349336315 | CHRNA1 | c.434C>G (p.Ser145Cys) c.998C>G (p.Ser333Cys) c.923C>G (p.Ser308Cys) c.677C>G (p.Ser226Cys) c.*567C>G (n.*567C>G) c.1019C>G (p.Ser340Cys) c.944C>G (p.Ser315Cys) | |
| 2 | g.174750025G= | CA1308832534 | CHRNA1 | c.434C= (p.Ser145=) c.998C= (p.Ser333=) c.923C= (p.Ser308=) c.677C= (p.Ser226=) c.*567C= (n.*567C=) c.1019C= (p.Ser340=) c.944C= (p.Ser315=) | |
| 2 | g.174750025G>T | CA349336316 | CHRNA1 | c.434C>A (p.Ser145Tyr) c.998C>A (p.Ser333Tyr) c.923C>A (p.Ser308Tyr) c.677C>A (p.Ser226Tyr) c.*567C>A (n.*567C>A) c.1019C>A (p.Ser340Tyr) c.944C>A (p.Ser315Tyr) | |
| 2 | g.174750026A>C | CA349336317 | CHRNA1 | c.433T>G (p.Ser145Ala) c.997T>G (p.Ser333Ala) c.922T>G (p.Ser308Ala) c.676T>G (p.Ser226Ala) c.*566T>G (n.*566T>G) c.1018T>G (p.Ser340Ala) c.943T>G (p.Ser315Ala) | |
| 2 | g.174750026A>G | CA349336318 | CHRNA1 | c.433T>C (p.Ser145Pro) c.997T>C (p.Ser333Pro) c.922T>C (p.Ser308Pro) c.676T>C (p.Ser226Pro) c.*566T>C (n.*566T>C) c.1018T>C (p.Ser340Pro) c.943T>C (p.Ser315Pro) | |
| 2 | g.174750026A>T | CA349336319 | CHRNA1 | c.433T>A (p.Ser145Thr) c.997T>A (p.Ser333Thr) c.922T>A (p.Ser308Thr) c.676T>A (p.Ser226Thr) c.*566T>A (n.*566T>A) c.1018T>A (p.Ser340Thr) c.943T>A (p.Ser315Thr) | |
| 2 | g.174750027G>A | CA430022313 | CHRNA1 | c.432C>T (p.Ala144=) c.996C>T (p.Ala332=) c.921C>T (p.Ala307=) c.675C>T (p.Ala225=) c.*565C>T (n.*565C>T) c.1017C>T (p.Ala339=) c.942C>T (p.Ala314=) | |
| 2 | g.174750027G>C | CA430022314 | CHRNA1 | c.432C>G (p.Ala144=) c.996C>G (p.Ala332=) c.921C>G (p.Ala307=) c.675C>G (p.Ala225=) c.*565C>G (n.*565C>G) c.1017C>G (p.Ala339=) c.942C>G (p.Ala314=) | dbSNP gnomAD v4 |
| 2 | g.174750027G= | CA1308832535 | CHRNA1 | c.432C= (p.Ala144=) c.996C= (p.Ala332=) c.921C= (p.Ala307=) c.675C= (p.Ala225=) c.*565C= (n.*565C=) c.1017C= (p.Ala339=) c.942C= (p.Ala314=) | |
| 2 | g.174750027G>T | CA430022315 | CHRNA1 | c.432C>A (p.Ala144=) c.996C>A (p.Ala332=) c.921C>A (p.Ala307=) c.675C>A (p.Ala225=) c.*565C>A (n.*565C>A) c.1017C>A (p.Ala339=) c.942C>A (p.Ala314=) | |
| 2 | g.174750028G>A | CA349336320 | CHRNA1 | c.431C>T (p.Ala144Val) c.995C>T (p.Ala332Val) c.920C>T (p.Ala307Val) c.674C>T (p.Ala225Val) c.*564C>T (n.*564C>T) c.1016C>T (p.Ala339Val) c.941C>T (p.Ala314Val) | |
| 2 | g.174750028G>C | CA349336323 | CHRNA1 | c.431C>G (p.Ala144Gly) c.995C>G (p.Ala332Gly) c.920C>G (p.Ala307Gly) c.674C>G (p.Ala225Gly) c.*564C>G (n.*564C>G) c.1016C>G (p.Ala339Gly) c.941C>G (p.Ala314Gly) | |
| 2 | g.174750028G>T | CA349336321 | CHRNA1 | c.431C>A (p.Ala144Asp) c.995C>A (p.Ala332Asp) c.920C>A (p.Ala307Asp) c.674C>A (p.Ala225Asp) c.*564C>A (n.*564C>A) c.1016C>A (p.Ala339Asp) c.941C>A (p.Ala314Asp) | |
| 2 | g.174750029C>A | CA349336325 | CHRNA1 | c.430G>T (p.Ala144Ser) c.994G>T (p.Ala332Ser) c.919G>T (p.Ala307Ser) c.673G>T (p.Ala225Ser) c.*563G>T (n.*563G>T) c.1015G>T (p.Ala339Ser) c.940G>T (p.Ala314Ser) | |
| 2 | g.174750029C= | CA1308832536 | CHRNA1 | c.430G= (p.Ala144=) c.994G= (p.Ala332=) c.919G= (p.Ala307=) c.673G= (p.Ala225=) c.*563G= (n.*563G=) c.1015G= (p.Ala339=) c.940G= (p.Ala314=) | |
| 2 | g.174750029C>G | CA349336326 | CHRNA1 | c.430G>C (p.Ala144Pro) c.994G>C (p.Ala332Pro) c.919G>C (p.Ala307Pro) c.673G>C (p.Ala225Pro) c.*563G>C (n.*563G>C) c.1015G>C (p.Ala339Pro) c.940G>C (p.Ala314Pro) | |
| 2 | g.174750029C>T | CA1974425 | CHRNA1 | c.430G>A (p.Ala144Thr) c.994G>A (p.Ala332Thr) c.919G>A (p.Ala307Thr) c.673G>A (p.Ala225Thr) c.*563G>A (n.*563G>A) c.1015G>A (p.Ala339Thr) c.940G>A (p.Ala314Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750030A>C | CA349336328 | CHRNA1 | c.429T>G (p.Ile143Met) c.993T>G (p.Ile331Met) c.918T>G (p.Ile306Met) c.672T>G (p.Ile224Met) c.*562T>G (n.*562T>G) c.1014T>G (p.Ile338Met) c.939T>G (p.Ile313Met) | |
| 2 | g.174750030A>G | CA430022317 | CHRNA1 | c.429T>C (p.Ile143=) c.993T>C (p.Ile331=) c.918T>C (p.Ile306=) c.672T>C (p.Ile224=) c.*562T>C (n.*562T>C) c.1014T>C (p.Ile338=) c.939T>C (p.Ile313=) | |
| 2 | g.174750030A>T | CA430022316 | CHRNA1 | c.429T>A (p.Ile143=) c.993T>A (p.Ile331=) c.918T>A (p.Ile306=) c.672T>A (p.Ile224=) c.*562T>A (n.*562T>A) c.1014T>A (p.Ile338=) c.939T>A (p.Ile313=) | |
| 2 | g.174750031A>C | CA349336331 | CHRNA1 | c.428T>G (p.Ile143Ser) c.992T>G (p.Ile331Ser) c.917T>G (p.Ile306Ser) c.671T>G (p.Ile224Ser) c.*561T>G (n.*561T>G) c.1013T>G (p.Ile338Ser) c.938T>G (p.Ile313Ser) | |
| 2 | g.174750031A>G | CA349336330 | CHRNA1 | c.428T>C (p.Ile143Thr) c.992T>C (p.Ile331Thr) c.917T>C (p.Ile306Thr) c.671T>C (p.Ile224Thr) c.*561T>C (n.*561T>C) c.1013T>C (p.Ile338Thr) c.938T>C (p.Ile313Thr) | gnomAD v4 |
| 2 | g.174750031A>T | CA349336329 | CHRNA1 | c.428T>A (p.Ile143Asn) c.992T>A (p.Ile331Asn) c.917T>A (p.Ile306Asn) c.671T>A (p.Ile224Asn) c.*561T>A (n.*561T>A) c.1013T>A (p.Ile338Asn) c.938T>A (p.Ile313Asn) | |
| 2 | g.174750032T>A | CA349336332 | CHRNA1 | c.427A>T (p.Ile143Phe) c.991A>T (p.Ile331Phe) c.916A>T (p.Ile306Phe) c.670A>T (p.Ile224Phe) c.*560A>T (n.*560A>T) c.1012A>T (p.Ile338Phe) c.937A>T (p.Ile313Phe) | |
| 2 | g.174750032T>C | CA349336333 | CHRNA1 | c.427A>G (p.Ile143Val) c.991A>G (p.Ile331Val) c.916A>G (p.Ile306Val) c.670A>G (p.Ile224Val) c.*560A>G (n.*560A>G) c.1012A>G (p.Ile338Val) c.937A>G (p.Ile313Val) | dbSNP gnomAD v4 |
| 2 | g.174750032T>G | CA349336334 | CHRNA1 | c.427A>C (p.Ile143Leu) c.991A>C (p.Ile331Leu) c.916A>C (p.Ile306Leu) c.670A>C (p.Ile224Leu) c.*560A>C (n.*560A>C) c.1012A>C (p.Ile338Leu) c.937A>C (p.Ile313Leu) | gnomAD v4 |
| 2 | g.174750032T= | CA1308832537 | CHRNA1 | c.427A= (p.Ile143=) c.991A= (p.Ile331=) c.916A= (p.Ile306=) c.670A= (p.Ile224=) c.*560A= (n.*560A=) c.1012A= (p.Ile338=) c.937A= (p.Ile313=) | |
| 2 | g.174750033G>A | CA430022322 | CHRNA1 | c.426C>T (p.Val142=) c.990C>T (p.Val330=) c.915C>T (p.Val305=) c.669C>T (p.Val223=) c.*559C>T (n.*559C>T) c.1011C>T (p.Val337=) c.936C>T (p.Val312=) | |
| 2 | g.174750033G>C | CA430022319 | CHRNA1 | c.426C>G (p.Val142=) c.990C>G (p.Val330=) c.915C>G (p.Val305=) c.669C>G (p.Val223=) c.*559C>G (n.*559C>G) c.1011C>G (p.Val337=) c.936C>G (p.Val312=) | |
| 2 | g.174750033G>T | CA430022318 | CHRNA1 | c.426C>A (p.Val142=) c.990C>A (p.Val330=) c.915C>A (p.Val305=) c.669C>A (p.Val223=) c.*559C>A (n.*559C>A) c.1011C>A (p.Val337=) c.936C>A (p.Val312=) | |
| 2 | g.174750034A>C | CA349336336 | CHRNA1 | c.425T>G (p.Val142Gly) c.989T>G (p.Val330Gly) c.914T>G (p.Val305Gly) c.668T>G (p.Val223Gly) c.*558T>G (n.*558T>G) c.1010T>G (p.Val337Gly) c.935T>G (p.Val312Gly) | |
| 2 | g.174750034A>G | CA349336338 | CHRNA1 | c.425T>C (p.Val142Ala) c.989T>C (p.Val330Ala) c.914T>C (p.Val305Ala) c.668T>C (p.Val223Ala) c.*558T>C (n.*558T>C) c.1010T>C (p.Val337Ala) c.935T>C (p.Val312Ala) | |
| 2 | g.174750034A>T | CA349336339 | CHRNA1 | c.425T>A (p.Val142Asp) c.989T>A (p.Val330Asp) c.914T>A (p.Val305Asp) c.668T>A (p.Val223Asp) c.*558T>A (n.*558T>A) c.1010T>A (p.Val337Asp) c.935T>A (p.Val312Asp) | |
| 2 | g.174750035C>A | CA349336346 | CHRNA1 | c.424G>T (p.Val142Phe) c.988G>T (p.Val330Phe) c.913G>T (p.Val305Phe) c.667G>T (p.Val223Phe) c.*557G>T (n.*557G>T) c.1009G>T (p.Val337Phe) c.934G>T (p.Val312Phe) | |
| 2 | g.174750035C= | CA1308832538 | CHRNA1 | c.424G= (p.Val142=) c.988G= (p.Val330=) c.913G= (p.Val305=) c.667G= (p.Val223=) c.*557G= (n.*557G=) c.1009G= (p.Val337=) c.934G= (p.Val312=) | |
| 2 | g.174750035C>G | CA349336343 | CHRNA1 | c.424G>C (p.Val142Leu) c.988G>C (p.Val330Leu) c.913G>C (p.Val305Leu) c.667G>C (p.Val223Leu) c.*557G>C (n.*557G>C) c.1009G>C (p.Val337Leu) c.934G>C (p.Val312Leu) | |
| 2 | g.174750035C>T | CA128076 | CHRNA1 | c.424G>A (p.Val142Ile) c.988G>A (p.Val330Ile) c.913G>A (p.Val305Ile) c.667G>A (p.Val223Ile) c.*557G>A (n.*557G>A) c.1009G>A (p.Val337Ile) c.934G>A (p.Val312Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174750036G>A | CA1974426 | CHRNA1 | c.423C>T (p.Phe141=) c.987C>T (p.Phe329=) c.912C>T (p.Phe304=) c.666C>T (p.Phe222=) c.*556C>T (n.*556C>T) c.1008C>T (p.Phe336=) c.933C>T (p.Phe311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750036G>C | CA349336350 | CHRNA1 | c.423C>G (p.Phe141Leu) c.987C>G (p.Phe329Leu) c.912C>G (p.Phe304Leu) c.666C>G (p.Phe222Leu) c.*556C>G (n.*556C>G) c.1008C>G (p.Phe336Leu) c.933C>G (p.Phe311Leu) | |
| 2 | g.174750036G= | CA1308832539 | CHRNA1 | c.423C= (p.Phe141=) c.987C= (p.Phe329=) c.912C= (p.Phe304=) c.666C= (p.Phe222=) c.*556C= (n.*556C=) c.1008C= (p.Phe336=) c.933C= (p.Phe311=) | |
| 2 | g.174750036G>T | CA349336355 | CHRNA1 | c.423C>A (p.Phe141Leu) c.987C>A (p.Phe329Leu) c.912C>A (p.Phe304Leu) c.666C>A (p.Phe222Leu) c.*556C>A (n.*556C>A) c.1008C>A (p.Phe336Leu) c.933C>A (p.Phe311Leu) | |
| 2 | g.174750037A= | CA1308832540 | CHRNA1 | c.422T= (p.Phe141=) c.986T= (p.Phe329=) c.911T= (p.Phe304=) c.665T= (p.Phe222=) c.*555T= (n.*555T=) c.1007T= (p.Phe336=) c.932T= (p.Phe311=) | |
| 2 | g.174750037A>C | CA349336358 | CHRNA1 | c.422T>G (p.Phe141Cys) c.986T>G (p.Phe329Cys) c.911T>G (p.Phe304Cys) c.665T>G (p.Phe222Cys) c.*555T>G (n.*555T>G) c.1007T>G (p.Phe336Cys) c.932T>G (p.Phe311Cys) | |
| 2 | g.174750037A>G | CA349336360 | CHRNA1 | c.422T>C (p.Phe141Ser) c.986T>C (p.Phe329Ser) c.911T>C (p.Phe304Ser) c.665T>C (p.Phe222Ser) c.*555T>C (n.*555T>C) c.1007T>C (p.Phe336Ser) c.932T>C (p.Phe311Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750037A>T | CA349336361 | CHRNA1 | c.422T>A (p.Phe141Tyr) c.986T>A (p.Phe329Tyr) c.911T>A (p.Phe304Tyr) c.665T>A (p.Phe222Tyr) c.*555T>A (n.*555T>A) c.1007T>A (p.Phe336Tyr) c.932T>A (p.Phe311Tyr) | |
| 2 | g.174750038A>C | CA349336369 | CHRNA1 | c.421T>G (p.Phe141Val) c.985T>G (p.Phe329Val) c.910T>G (p.Phe304Val) c.664T>G (p.Phe222Val) c.*554T>G (n.*554T>G) c.1006T>G (p.Phe336Val) c.931T>G (p.Phe311Val) | |
| 2 | g.174750038A>G | CA349336375 | CHRNA1 | c.421T>C (p.Phe141Leu) c.985T>C (p.Phe329Leu) c.910T>C (p.Phe304Leu) c.664T>C (p.Phe222Leu) c.*554T>C (n.*554T>C) c.1006T>C (p.Phe336Leu) c.931T>C (p.Phe311Leu) | |
| 2 | g.174750038A>T | CA349336373 | CHRNA1 | c.421T>A (p.Phe141Ile) c.985T>A (p.Phe329Ile) c.910T>A (p.Phe304Ile) c.664T>A (p.Phe222Ile) c.*554T>A (n.*554T>A) c.1006T>A (p.Phe336Ile) c.931T>A (p.Phe311Ile) |