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.174753494C>A | CA349338569 | CHRNA1 | c.289+9G>T (n.289+9G>T) c.853+9G>T (n.853+9G>T) c.778+9G>T (n.778+9G>T) c.787G>T (p.Gly263Cys) c.532+9G>T (n.532+9G>T) c.*422+9G>T (n.*422+9G>T) c.874+9G>T (n.874+9G>T) c.799+9G>T (n.799+9G>T) | |
| 2 | g.174753494C>G | CA349338573 | CHRNA1 | c.289+9G>C (n.289+9G>C) c.853+9G>C (n.853+9G>C) c.778+9G>C (n.778+9G>C) c.787G>C (p.Gly263Arg) c.532+9G>C (n.532+9G>C) c.*422+9G>C (n.*422+9G>C) c.874+9G>C (n.874+9G>C) c.799+9G>C (n.799+9G>C) | |
| 2 | g.174753494C>T | CA349338574 | CHRNA1 | c.289+9G>A (n.289+9G>A) c.853+9G>A (n.853+9G>A) c.778+9G>A (n.778+9G>A) c.787G>A (p.Gly263Ser) c.532+9G>A (n.532+9G>A) c.*422+9G>A (n.*422+9G>A) c.874+9G>A (n.874+9G>A) c.799+9G>A (n.799+9G>A) | |
| 2 | g.174753495A= | CA1308834025 | CHRNA1 | c.289+8T= (n.289+8T=) c.853+8T= (n.853+8T=) c.778+8T= (n.778+8T=) c.786T= (p.Cys262=) c.532+8T= (n.532+8T=) c.*422+8T= (n.*422+8T=) c.874+8T= (n.874+8T=) c.799+8T= (n.799+8T=) | |
| 2 | g.174753495A>C | CA349338577 | CHRNA1 | c.289+8T>G (n.289+8T>G) c.853+8T>G (n.853+8T>G) c.778+8T>G (n.778+8T>G) c.786T>G (p.Cys262Trp) c.532+8T>G (n.532+8T>G) c.*422+8T>G (n.*422+8T>G) c.874+8T>G (n.874+8T>G) c.799+8T>G (n.799+8T>G) | |
| 2 | g.174753495A>G | CA537975168 | CHRNA1 | c.289+8T>C (n.289+8T>C) c.853+8T>C (n.853+8T>C) c.778+8T>C (n.778+8T>C) c.786T>C (p.Cys262=) c.532+8T>C (n.532+8T>C) c.*422+8T>C (n.*422+8T>C) c.874+8T>C (n.874+8T>C) c.799+8T>C (n.799+8T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753495A>T | CA60851878 | CHRNA1 | c.289+8T>A (n.289+8T>A) c.853+8T>A (n.853+8T>A) c.778+8T>A (n.778+8T>A) c.786T>A (p.Cys262Ter) c.532+8T>A (n.532+8T>A) c.*422+8T>A (n.*422+8T>A) c.874+8T>A (n.874+8T>A) c.799+8T>A (n.799+8T>A) | dbSNP |
| 2 | g.174753496C>A | CA349338595 | CHRNA1 | c.289+7G>T (n.289+7G>T) c.853+7G>T (n.853+7G>T) c.778+7G>T (n.778+7G>T) c.785G>T (p.Cys262Phe) c.532+7G>T (n.532+7G>T) c.*422+7G>T (n.*422+7G>T) c.874+7G>T (n.874+7G>T) c.799+7G>T (n.799+7G>T) | |
| 2 | g.174753496C>G | CA349338593 | CHRNA1 | c.289+7G>C (n.289+7G>C) c.853+7G>C (n.853+7G>C) c.778+7G>C (n.778+7G>C) c.785G>C (p.Cys262Ser) c.532+7G>C (n.532+7G>C) c.*422+7G>C (n.*422+7G>C) c.874+7G>C (n.874+7G>C) c.799+7G>C (n.799+7G>C) | |
| 2 | g.174753496C>T | CA349338590 | CHRNA1 | c.289+7G>A (n.289+7G>A) c.853+7G>A (n.853+7G>A) c.778+7G>A (n.778+7G>A) c.785G>A (p.Cys262Tyr) c.532+7G>A (n.532+7G>A) c.*422+7G>A (n.*422+7G>A) c.874+7G>A (n.874+7G>A) c.799+7G>A (n.799+7G>A) | |
| 2 | g.174753497A>C | CA349338597 | CHRNA1 | c.289+6T>G (n.289+6T>G) c.853+6T>G (n.853+6T>G) c.778+6T>G (n.778+6T>G) c.784T>G (p.Cys262Gly) c.532+6T>G (n.532+6T>G) c.*422+6T>G (n.*422+6T>G) c.874+6T>G (n.874+6T>G) c.799+6T>G (n.799+6T>G) | |
| 2 | g.174753497A>G | CA349338598 | CHRNA1 | c.289+6T>C (n.289+6T>C) c.853+6T>C (n.853+6T>C) c.778+6T>C (n.778+6T>C) c.784T>C (p.Cys262Arg) c.532+6T>C (n.532+6T>C) c.*422+6T>C (n.*422+6T>C) c.874+6T>C (n.874+6T>C) c.799+6T>C (n.799+6T>C) | |
| 2 | g.174753497A>T | CA349338599 | CHRNA1 | c.289+6T>A (n.289+6T>A) c.853+6T>A (n.853+6T>A) c.778+6T>A (n.778+6T>A) c.784T>A (p.Cys262Ser) c.532+6T>A (n.532+6T>A) c.*422+6T>A (n.*422+6T>A) c.874+6T>A (n.874+6T>A) c.799+6T>A (n.799+6T>A) | |
| 2 | g.174753499C>A | CA1974479 | CHRNA1 | c.289+4G>T (n.289+4G>T) c.853+4G>T (n.853+4G>T) c.778+4G>T (n.778+4G>T) c.782G>T (p.Gly261Val) c.532+4G>T (n.532+4G>T) c.*422+4G>T (n.*422+4G>T) c.874+4G>T (n.874+4G>T) c.799+4G>T (n.799+4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174753499C= | CA1308834026 | CHRNA1 | c.289+4G= (n.289+4G=) c.853+4G= (n.853+4G=) c.778+4G= (n.778+4G=) c.782G= (p.Gly261=) c.532+4G= (n.532+4G=) c.*422+4G= (n.*422+4G=) c.874+4G= (n.874+4G=) c.799+4G= (n.799+4G=) | |
| 2 | g.174753499C>G | CA349338600 | CHRNA1 | c.289+4G>C (n.289+4G>C) c.853+4G>C (n.853+4G>C) c.778+4G>C (n.778+4G>C) c.782G>C (p.Gly261Ala) c.532+4G>C (n.532+4G>C) c.*422+4G>C (n.*422+4G>C) c.874+4G>C (n.874+4G>C) c.799+4G>C (n.799+4G>C) | |
| 2 | g.174753499C>T | CA349338601 | CHRNA1 | c.289+4G>A (n.289+4G>A) c.853+4G>A (n.853+4G>A) c.778+4G>A (n.778+4G>A) c.782G>A (p.Gly261Glu) c.532+4G>A (n.532+4G>A) c.*422+4G>A (n.*422+4G>A) c.874+4G>A (n.874+4G>A) c.799+4G>A (n.799+4G>A) | dbSNP |
| 2 | g.174753500C>A | CA349338602 | CHRNA1 | c.289+3G>T (n.289+3G>T) c.853+3G>T (n.853+3G>T) c.778+3G>T (n.778+3G>T) c.781G>T (p.Gly261Trp) c.532+3G>T (n.532+3G>T) c.*422+3G>T (n.*422+3G>T) c.874+3G>T (n.874+3G>T) c.799+3G>T (n.799+3G>T) | |
| 2 | g.174753500C>G | CA349338604 | CHRNA1 | c.289+3G>C (n.289+3G>C) c.853+3G>C (n.853+3G>C) c.778+3G>C (n.778+3G>C) c.781G>C (p.Gly261Arg) c.532+3G>C (n.532+3G>C) c.*422+3G>C (n.*422+3G>C) c.874+3G>C (n.874+3G>C) c.799+3G>C (n.799+3G>C) | |
| 2 | g.174753500C>T | CA349338606 | CHRNA1 | c.289+3G>A (n.289+3G>A) c.853+3G>A (n.853+3G>A) c.778+3G>A (n.778+3G>A) c.781G>A (p.Gly261Arg) c.532+3G>A (n.532+3G>A) c.*422+3G>A (n.*422+3G>A) c.874+3G>A (n.874+3G>A) c.799+3G>A (n.799+3G>A) | |
| 2 | g.174753501A= | CA1308834027 | CHRNA1 | c.289+2T= (n.289+2T=) c.853+2T= (n.853+2T=) c.778+2T= (n.778+2T=) c.780T= (p.Gly260=) c.532+2T= (n.532+2T=) c.*422+2T= (n.*422+2T=) c.874+2T= (n.874+2T=) c.799+2T= (n.799+2T=) | |
| 2 | g.174753501A>C | CA349338608 | CHRNA1 | c.289+2T>G (n.289+2T>G) c.853+2T>G (n.853+2T>G) c.778+2T>G (n.778+2T>G) c.780T>G (p.Gly260=) c.532+2T>G (n.532+2T>G) c.*422+2T>G (n.*422+2T>G) c.874+2T>G (n.874+2T>G) c.799+2T>G (n.799+2T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174753501A>G | CA349338611 | CHRNA1 | c.289+2T>C (n.289+2T>C) c.853+2T>C (n.853+2T>C) c.778+2T>C (n.778+2T>C) c.780T>C (p.Gly260=) c.532+2T>C (n.532+2T>C) c.*422+2T>C (n.*422+2T>C) c.874+2T>C (n.874+2T>C) c.799+2T>C (n.799+2T>C) | |
| 2 | g.174753501A>T | CA349338622 | CHRNA1 | c.289+2T>A (n.289+2T>A) c.853+2T>A (n.853+2T>A) c.778+2T>A (n.778+2T>A) c.780T>A (p.Gly260=) c.532+2T>A (n.532+2T>A) c.*422+2T>A (n.*422+2T>A) c.874+2T>A (n.874+2T>A) c.799+2T>A (n.799+2T>A) | ClinVar |
| 2 | g.174753502C>A | CA349338626 | CHRNA1 | c.289+1G>T (n.289+1G>T) c.853+1G>T (n.853+1G>T) c.778+1G>T (n.778+1G>T) c.779G>T (p.Gly260Val) c.532+1G>T (n.532+1G>T) c.*422+1G>T (n.*422+1G>T) c.874+1G>T (n.874+1G>T) c.799+1G>T (n.799+1G>T) | |
| 2 | g.174753502C>G | CA349338628 | CHRNA1 | c.289+1G>C (n.289+1G>C) c.853+1G>C (n.853+1G>C) c.778+1G>C (n.778+1G>C) c.779G>C (p.Gly260Ala) c.532+1G>C (n.532+1G>C) c.*422+1G>C (n.*422+1G>C) c.874+1G>C (n.874+1G>C) c.799+1G>C (n.799+1G>C) | |
| 2 | g.174753502C>T | CA349338624 | CHRNA1 | c.289+1G>A (n.289+1G>A) c.853+1G>A (n.853+1G>A) c.778+1G>A (n.778+1G>A) c.779G>A (p.Gly260Asp) c.532+1G>A (n.532+1G>A) c.*422+1G>A (n.*422+1G>A) c.874+1G>A (n.874+1G>A) c.799+1G>A (n.799+1G>A) | |
| 2 | g.174753503C>A | CA349338630 | CHRNA1 | c.289G>T (p.Gly97Trp) c.853G>T (p.Gly285Trp) c.778G>T (p.Gly260Trp) c.778G>T (p.Gly260Cys) c.532G>T (p.Gly178Trp) c.*422G>T (n.*422G>T) c.874G>T (p.Gly292Trp) c.799G>T (p.Gly267Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174753503C= | CA1308834028 | CHRNA1 | c.289G= (p.Gly97=) c.853G= (p.Gly285=) c.778G= (p.Gly260=) c.532G= (p.Gly178=) c.*422G= (n.*422G=) c.874G= (p.Gly292=) c.799G= (p.Gly267=) | |
| 2 | g.174753503C>G | CA349338636 | CHRNA1 | c.289G>C (p.Gly97Arg) c.853G>C (p.Gly285Arg) c.778G>C (p.Gly260Arg) c.532G>C (p.Gly178Arg) c.*422G>C (n.*422G>C) c.874G>C (p.Gly292Arg) c.799G>C (p.Gly267Arg) | |
| 2 | g.174753503C>T | CA349338638 | CHRNA1 | c.289G>A (p.Gly97Arg) c.853G>A (p.Gly285Arg) c.778G>A (p.Gly260Arg) c.778G>A (p.Gly260Ser) c.532G>A (p.Gly178Arg) c.*422G>A (n.*422G>A) c.874G>A (p.Gly292Arg) c.799G>A (p.Gly267Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174753504T>A | CA430022680 | CHRNA1 | c.288A>T (p.Ser96=) c.852A>T (p.Ser284=) c.777A>T (p.Ser259=) c.531A>T (p.Ser177=) c.*421A>T (n.*421A>T) c.873A>T (p.Ser291=) c.798A>T (p.Ser266=) | |
| 2 | g.174753504T>C | CA430022681 | CHRNA1 | c.288A>G (p.Ser96=) c.852A>G (p.Ser284=) c.777A>G (p.Ser259=) c.531A>G (p.Ser177=) c.*421A>G (n.*421A>G) c.873A>G (p.Ser291=) c.798A>G (p.Ser266=) | gnomAD v4 |
| 2 | g.174753504T>G | CA430022682 | CHRNA1 | c.288A>C (p.Ser96=) c.852A>C (p.Ser284=) c.777A>C (p.Ser259=) c.531A>C (p.Ser177=) c.*421A>C (n.*421A>C) c.873A>C (p.Ser291=) c.798A>C (p.Ser266=) | gnomAD v4 |
| 2 | g.174753505G>A | CA349338640 | CHRNA1 | c.287C>T (p.Ser96Leu) c.851C>T (p.Ser284Leu) c.776C>T (p.Ser259Leu) c.530C>T (p.Ser177Leu) c.*420C>T (n.*420C>T) c.872C>T (p.Ser291Leu) c.797C>T (p.Ser266Leu) | gnomAD v4 |
| 2 | g.174753505G>C | CA1974480 | CHRNA1 | c.287C>G (p.Ser96Ter) c.851C>G (p.Ser284Ter) c.776C>G (p.Ser259Ter) c.530C>G (p.Ser177Ter) c.*420C>G (n.*420C>G) c.872C>G (p.Ser291Ter) c.797C>G (p.Ser266Ter) | dbSNP ExAC gnomAD v2 |
| 2 | g.174753505G= | CA1308834029 | CHRNA1 | c.287C= (p.Ser96=) c.851C= (p.Ser284=) c.776C= (p.Ser259=) c.530C= (p.Ser177=) c.*420C= (n.*420C=) c.872C= (p.Ser291=) c.797C= (p.Ser266=) | |
| 2 | g.174753505G>T | CA349338647 | CHRNA1 | c.287C>A (p.Ser96Ter) c.851C>A (p.Ser284Ter) c.776C>A (p.Ser259Ter) c.530C>A (p.Ser177Ter) c.*420C>A (n.*420C>A) c.872C>A (p.Ser291Ter) c.797C>A (p.Ser266Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753506A>C | CA349338650 | CHRNA1 | c.286T>G (p.Ser96Ala) c.850T>G (p.Ser284Ala) c.775T>G (p.Ser259Ala) c.529T>G (p.Ser177Ala) c.*419T>G (n.*419T>G) c.871T>G (p.Ser291Ala) c.796T>G (p.Ser266Ala) | |
| 2 | g.174753506A>G | CA349338648 | CHRNA1 | c.286T>C (p.Ser96Pro) c.850T>C (p.Ser284Pro) c.775T>C (p.Ser259Pro) c.529T>C (p.Ser177Pro) c.*419T>C (n.*419T>C) c.871T>C (p.Ser291Pro) c.796T>C (p.Ser266Pro) | |
| 2 | g.174753506A>T | CA349338649 | CHRNA1 | c.286T>A (p.Ser96Thr) c.850T>A (p.Ser284Thr) c.775T>A (p.Ser259Thr) c.529T>A (p.Ser177Thr) c.*419T>A (n.*419T>A) c.871T>A (p.Ser291Thr) c.796T>A (p.Ser266Thr) | |
| 2 | g.174753507G>A | CA430022683 | CHRNA1 | c.285C>T (p.Asp95=) c.849C>T (p.Asp283=) c.774C>T (p.Asp258=) c.528C>T (p.Asp176=) c.*418C>T (n.*418C>T) c.870C>T (p.Asp290=) c.795C>T (p.Asp265=) | gnomAD v4 |
| 2 | g.174753507G>C | CA349338651 | CHRNA1 | c.285C>G (p.Asp95Glu) c.849C>G (p.Asp283Glu) c.774C>G (p.Asp258Glu) c.528C>G (p.Asp176Glu) c.*418C>G (n.*418C>G) c.870C>G (p.Asp290Glu) c.795C>G (p.Asp265Glu) | |
| 2 | g.174753507G>T | CA349338653 | CHRNA1 | c.285C>A (p.Asp95Glu) c.849C>A (p.Asp283Glu) c.774C>A (p.Asp258Glu) c.528C>A (p.Asp176Glu) c.*418C>A (n.*418C>A) c.870C>A (p.Asp290Glu) c.795C>A (p.Asp265Glu) | |
| 2 | g.174753508T>A | CA349338656 | CHRNA1 | c.284A>T (p.Asp95Val) c.848A>T (p.Asp283Val) c.773A>T (p.Asp258Val) c.527A>T (p.Asp176Val) c.*417A>T (n.*417A>T) c.869A>T (p.Asp290Val) c.794A>T (p.Asp265Val) | |
| 2 | g.174753508T>C | CA349338658 | CHRNA1 | c.284A>G (p.Asp95Gly) c.848A>G (p.Asp283Gly) c.773A>G (p.Asp258Gly) c.527A>G (p.Asp176Gly) c.*417A>G (n.*417A>G) c.869A>G (p.Asp290Gly) c.794A>G (p.Asp265Gly) | |
| 2 | g.174753508T>G | CA349338660 | CHRNA1 | c.284A>C (p.Asp95Ala) c.848A>C (p.Asp283Ala) c.773A>C (p.Asp258Ala) c.527A>C (p.Asp176Ala) c.*417A>C (n.*417A>C) c.869A>C (p.Asp290Ala) c.794A>C (p.Asp265Ala) | |
| 2 | g.174753509C>A | CA349338663 | CHRNA1 | c.283G>T (p.Asp95Tyr) c.847G>T (p.Asp283Tyr) c.772G>T (p.Asp258Tyr) c.526G>T (p.Asp176Tyr) c.*416G>T (n.*416G>T) c.868G>T (p.Asp290Tyr) c.793G>T (p.Asp265Tyr) | |
| 2 | g.174753509C>G | CA349338661 | CHRNA1 | c.283G>C (p.Asp95His) c.847G>C (p.Asp283His) c.772G>C (p.Asp258His) c.526G>C (p.Asp176His) c.*416G>C (n.*416G>C) c.868G>C (p.Asp290His) c.793G>C (p.Asp265His) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174753509C>T | CA349338662 | CHRNA1 | c.283G>A (p.Asp95Asn) c.847G>A (p.Asp283Asn) c.772G>A (p.Asp258Asn) c.526G>A (p.Asp176Asn) c.*416G>A (n.*416G>A) c.868G>A (p.Asp290Asn) c.793G>A (p.Asp265Asn) | |
| 2 | g.174753510T>A | CA430022686 | CHRNA1 | c.282A>T (p.Thr94=) c.846A>T (p.Thr282=) c.771A>T (p.Thr257=) c.525A>T (p.Thr175=) c.*415A>T (n.*415A>T) c.867A>T (p.Thr289=) c.792A>T (p.Thr264=) | |
| 2 | g.174753510T>C | CA430022685 | CHRNA1 | c.282A>G (p.Thr94=) c.846A>G (p.Thr282=) c.771A>G (p.Thr257=) c.525A>G (p.Thr175=) c.*415A>G (n.*415A>G) c.867A>G (p.Thr289=) c.792A>G (p.Thr264=) | |
| 2 | g.174753510T>G | CA430022684 | CHRNA1 | c.282A>C (p.Thr94=) c.846A>C (p.Thr282=) c.771A>C (p.Thr257=) c.525A>C (p.Thr175=) c.*415A>C (n.*415A>C) c.867A>C (p.Thr289=) c.792A>C (p.Thr264=) | |
| 2 | g.174753511G>A | CA349338664 | CHRNA1 | c.281C>T (p.Thr94Ile) c.845C>T (p.Thr282Ile) c.770C>T (p.Thr257Ile) c.524C>T (p.Thr175Ile) c.*414C>T (n.*414C>T) c.866C>T (p.Thr289Ile) c.791C>T (p.Thr264Ile) | |
| 2 | g.174753511G>C | CA349338666 | CHRNA1 | c.281C>G (p.Thr94Arg) c.845C>G (p.Thr282Arg) c.770C>G (p.Thr257Arg) c.524C>G (p.Thr175Arg) c.*414C>G (n.*414C>G) c.866C>G (p.Thr289Arg) c.791C>G (p.Thr264Arg) | |
| 2 | g.174753511G>T | CA349338669 | CHRNA1 | c.281C>A (p.Thr94Lys) c.845C>A (p.Thr282Lys) c.770C>A (p.Thr257Lys) c.524C>A (p.Thr175Lys) c.*414C>A (n.*414C>A) c.866C>A (p.Thr289Lys) c.791C>A (p.Thr264Lys) | gnomAD v4 |
| 2 | g.174753512T>A | CA349338672 | CHRNA1 | c.280A>T (p.Thr94Ser) c.844A>T (p.Thr282Ser) c.769A>T (p.Thr257Ser) c.523A>T (p.Thr175Ser) c.*413A>T (n.*413A>T) c.865A>T (p.Thr289Ser) c.790A>T (p.Thr264Ser) | |
| 2 | g.174753512T>C | CA349338680 | CHRNA1 | c.280A>G (p.Thr94Ala) c.844A>G (p.Thr282Ala) c.769A>G (p.Thr257Ala) c.523A>G (p.Thr175Ala) c.*413A>G (n.*413A>G) c.865A>G (p.Thr289Ala) c.790A>G (p.Thr264Ala) | ClinVar dbSNP |
| 2 | g.174753512T>G | CA349338682 | CHRNA1 | c.280A>C (p.Thr94Pro) c.844A>C (p.Thr282Pro) c.769A>C (p.Thr257Pro) c.523A>C (p.Thr175Pro) c.*413A>C (n.*413A>C) c.865A>C (p.Thr289Pro) c.790A>C (p.Thr264Pro) | |
| 2 | g.174753512T= | CA1308834030 | CHRNA1 | c.280A= (p.Thr94=) c.844A= (p.Thr282=) c.769A= (p.Thr257=) c.523A= (p.Thr175=) c.*413A= (n.*413A=) c.865A= (p.Thr289=) c.790A= (p.Thr264=) | |
| 2 | g.174753513G>A | CA430022688 | CHRNA1 | c.279C>T (p.Pro93=) c.843C>T (p.Pro281=) c.768C>T (p.Pro256=) c.522C>T (p.Pro174=) c.*412C>T (n.*412C>T) c.864C>T (p.Pro288=) c.789C>T (p.Pro263=) | |
| 2 | g.174753513G>C | CA430022689 | CHRNA1 | c.279C>G (p.Pro93=) c.843C>G (p.Pro281=) c.768C>G (p.Pro256=) c.522C>G (p.Pro174=) c.*412C>G (n.*412C>G) c.864C>G (p.Pro288=) c.789C>G (p.Pro263=) | |
| 2 | g.174753513G>T | CA430022690 | CHRNA1 | c.279C>A (p.Pro93=) c.843C>A (p.Pro281=) c.768C>A (p.Pro256=) c.522C>A (p.Pro174=) c.*412C>A (n.*412C>A) c.864C>A (p.Pro288=) c.789C>A (p.Pro263=) | |
| 2 | g.174753514G>A | CA349338683 | CHRNA1 | c.278C>T (p.Pro93Leu) c.842C>T (p.Pro281Leu) c.767C>T (p.Pro256Leu) c.521C>T (p.Pro174Leu) c.*411C>T (n.*411C>T) c.863C>T (p.Pro288Leu) c.788C>T (p.Pro263Leu) | |
| 2 | g.174753514G>C | CA349338684 | CHRNA1 | c.278C>G (p.Pro93Arg) c.842C>G (p.Pro281Arg) c.767C>G (p.Pro256Arg) c.521C>G (p.Pro174Arg) c.*411C>G (n.*411C>G) c.863C>G (p.Pro288Arg) c.788C>G (p.Pro263Arg) | |
| 2 | g.174753514G>T | CA349338685 | CHRNA1 | c.278C>A (p.Pro93His) c.842C>A (p.Pro281His) c.767C>A (p.Pro256His) c.521C>A (p.Pro174His) c.*411C>A (n.*411C>A) c.863C>A (p.Pro288His) c.788C>A (p.Pro263His) | |
| 2 | g.174753515G>A | CA349338686 | CHRNA1 | c.277C>T (p.Pro93Ser) c.841C>T (p.Pro281Ser) c.766C>T (p.Pro256Ser) c.520C>T (p.Pro174Ser) c.*410C>T (n.*410C>T) c.862C>T (p.Pro288Ser) c.787C>T (p.Pro263Ser) | dbSNP gnomAD v4 |
| 2 | g.174753515G>C | CA349338689 | CHRNA1 | c.277C>G (p.Pro93Ala) c.841C>G (p.Pro281Ala) c.766C>G (p.Pro256Ala) c.520C>G (p.Pro174Ala) c.*410C>G (n.*410C>G) c.862C>G (p.Pro288Ala) c.787C>G (p.Pro263Ala) | |
| 2 | g.174753515G= | CA1308834031 | CHRNA1 | c.277C= (p.Pro93=) c.841C= (p.Pro281=) c.766C= (p.Pro256=) c.520C= (p.Pro174=) c.*410C= (n.*410C=) c.862C= (p.Pro288=) c.787C= (p.Pro263=) | |
| 2 | g.174753515G>T | CA349338692 | CHRNA1 | c.277C>A (p.Pro93Thr) c.841C>A (p.Pro281Thr) c.766C>A (p.Pro256Thr) c.520C>A (p.Pro174Thr) c.*410C>A (n.*410C>A) c.862C>A (p.Pro288Thr) c.787C>A (p.Pro263Thr) | ClinVar dbSNP |
| 2 | g.174753516C>A | CA430022693 | CHRNA1 | c.276G>T (p.Leu92=) c.840G>T (p.Leu280=) c.765G>T (p.Leu255=) c.519G>T (p.Leu173=) c.*409G>T (n.*409G>T) c.861G>T (p.Leu287=) c.786G>T (p.Leu262=) | |
| 2 | g.174753516C= | CA1308834032 | CHRNA1 | c.276G= (p.Leu92=) c.840G= (p.Leu280=) c.765G= (p.Leu255=) c.519G= (p.Leu173=) c.*409G= (n.*409G=) c.861G= (p.Leu287=) c.786G= (p.Leu262=) | |
| 2 | g.174753516C>G | CA430022694 | CHRNA1 | c.276G>C (p.Leu92=) c.840G>C (p.Leu280=) c.765G>C (p.Leu255=) c.519G>C (p.Leu173=) c.*409G>C (n.*409G>C) c.861G>C (p.Leu287=) c.786G>C (p.Leu262=) | |
| 2 | g.174753516C>T | CA60851893 | CHRNA1 | c.276G>A (p.Leu92=) c.840G>A (p.Leu280=) c.765G>A (p.Leu255=) c.519G>A (p.Leu173=) c.*409G>A (n.*409G>A) c.861G>A (p.Leu287=) c.786G>A (p.Leu262=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753517A>C | CA349338706 | CHRNA1 | c.275T>G (p.Leu92Arg) c.839T>G (p.Leu280Arg) c.764T>G (p.Leu255Arg) c.518T>G (p.Leu173Arg) c.*408T>G (n.*408T>G) c.860T>G (p.Leu287Arg) c.785T>G (p.Leu262Arg) | gnomAD v4 |
| 2 | g.174753517A>G | CA349338710 | CHRNA1 | c.275T>C (p.Leu92Pro) c.839T>C (p.Leu280Pro) c.764T>C (p.Leu255Pro) c.518T>C (p.Leu173Pro) c.*408T>C (n.*408T>C) c.860T>C (p.Leu287Pro) c.785T>C (p.Leu262Pro) | |
| 2 | g.174753517A>T | CA349338708 | CHRNA1 | c.275T>A (p.Leu92Gln) c.839T>A (p.Leu280Gln) c.764T>A (p.Leu255Gln) c.518T>A (p.Leu173Gln) c.*408T>A (n.*408T>A) c.860T>A (p.Leu287Gln) c.785T>A (p.Leu262Gln) | |
| 2 | g.174753518G>A | CA430022695 | CHRNA1 | c.274C>T (p.Leu92=) c.838C>T (p.Leu280=) c.763C>T (p.Leu255=) c.517C>T (p.Leu173=) c.*407C>T (n.*407C>T) c.859C>T (p.Leu287=) c.784C>T (p.Leu262=) | |
| 2 | g.174753518G>C | CA349338714 | CHRNA1 | c.274C>G (p.Leu92Val) c.838C>G (p.Leu280Val) c.763C>G (p.Leu255Val) c.517C>G (p.Leu173Val) c.*407C>G (n.*407C>G) c.859C>G (p.Leu287Val) c.784C>G (p.Leu262Val) | |
| 2 | g.174753518G>T | CA349338716 | CHRNA1 | c.274C>A (p.Leu92Met) c.838C>A (p.Leu280Met) c.763C>A (p.Leu255Met) c.517C>A (p.Leu173Met) c.*407C>A (n.*407C>A) c.859C>A (p.Leu287Met) c.784C>A (p.Leu262Met) | |
| 2 | g.174753519G>A | CA430022696 | CHRNA1 | c.273C>T (p.Tyr91=) c.837C>T (p.Tyr279=) c.762C>T (p.Tyr254=) c.516C>T (p.Tyr172=) c.*406C>T (n.*406C>T) c.858C>T (p.Tyr286=) c.783C>T (p.Tyr261=) | gnomAD v4 |
| 2 | g.174753519G>C | CA349338719 | CHRNA1 | c.273C>G (p.Tyr91Ter) c.837C>G (p.Tyr279Ter) c.762C>G (p.Tyr254Ter) c.516C>G (p.Tyr172Ter) c.*406C>G (n.*406C>G) c.858C>G (p.Tyr286Ter) c.783C>G (p.Tyr261Ter) | |
| 2 | g.174753519G>T | CA349338721 | CHRNA1 | c.273C>A (p.Tyr91Ter) c.837C>A (p.Tyr279Ter) c.762C>A (p.Tyr254Ter) c.516C>A (p.Tyr172Ter) c.*406C>A (n.*406C>A) c.858C>A (p.Tyr286Ter) c.783C>A (p.Tyr261Ter) | |
| 2 | g.174753520T>A | CA349338723 | CHRNA1 | c.272A>T (p.Tyr91Phe) c.836A>T (p.Tyr279Phe) c.761A>T (p.Tyr254Phe) c.515A>T (p.Tyr172Phe) c.*405A>T (n.*405A>T) c.857A>T (p.Tyr286Phe) c.782A>T (p.Tyr261Phe) | |
| 2 | g.174753520T>C | CA349338724 | CHRNA1 | c.272A>G (p.Tyr91Cys) c.836A>G (p.Tyr279Cys) c.761A>G (p.Tyr254Cys) c.515A>G (p.Tyr172Cys) c.*405A>G (n.*405A>G) c.857A>G (p.Tyr286Cys) c.782A>G (p.Tyr261Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174753520T>G | CA349338730 | CHRNA1 | c.272A>C (p.Tyr91Ser) c.836A>C (p.Tyr279Ser) c.761A>C (p.Tyr254Ser) c.515A>C (p.Tyr172Ser) c.*405A>C (n.*405A>C) c.857A>C (p.Tyr286Ser) c.782A>C (p.Tyr261Ser) | dbSNP |
| 2 | g.174753520T= | CA1308834033 | CHRNA1 | c.272A= (p.Tyr91=) c.836A= (p.Tyr279=) c.761A= (p.Tyr254=) c.515A= (p.Tyr172=) c.*405A= (n.*405A=) c.857A= (p.Tyr286=) c.782A= (p.Tyr261=) | |
| 2 | g.174753521A>C | CA349338735 | CHRNA1 | c.271T>G (p.Tyr91Asp) c.835T>G (p.Tyr279Asp) c.760T>G (p.Tyr254Asp) c.514T>G (p.Tyr172Asp) c.*404T>G (n.*404T>G) c.856T>G (p.Tyr286Asp) c.781T>G (p.Tyr261Asp) | |
| 2 | g.174753521A>G | CA349338737 | CHRNA1 | c.271T>C (p.Tyr91His) c.835T>C (p.Tyr279His) c.760T>C (p.Tyr254His) c.514T>C (p.Tyr172His) c.*404T>C (n.*404T>C) c.856T>C (p.Tyr286His) c.781T>C (p.Tyr261His) | |
| 2 | g.174753521A>T | CA349338739 | CHRNA1 | c.271T>A (p.Tyr91Asn) c.835T>A (p.Tyr279Asn) c.760T>A (p.Tyr254Asn) c.514T>A (p.Tyr172Asn) c.*404T>A (n.*404T>A) c.856T>A (p.Tyr286Asn) c.781T>A (p.Tyr261Asn) | |
| 2 | g.174753522G>A | CA430022698 | CHRNA1 | c.270C>T (p.Phe90=) c.834C>T (p.Phe278=) c.759C>T (p.Phe253=) c.513C>T (p.Phe171=) c.*403C>T (n.*403C>T) c.855C>T (p.Phe285=) c.780C>T (p.Phe260=) | |
| 2 | g.174753522G>C | CA349338740 | CHRNA1 | c.270C>G (p.Phe90Leu) c.834C>G (p.Phe278Leu) c.759C>G (p.Phe253Leu) c.513C>G (p.Phe171Leu) c.*403C>G (n.*403C>G) c.855C>G (p.Phe285Leu) c.780C>G (p.Phe260Leu) | |
| 2 | g.174753522G>T | CA349338741 | CHRNA1 | c.270C>A (p.Phe90Leu) c.834C>A (p.Phe278Leu) c.759C>A (p.Phe253Leu) c.513C>A (p.Phe171Leu) c.*403C>A (n.*403C>A) c.855C>A (p.Phe285Leu) c.780C>A (p.Phe260Leu) | |
| 2 | g.174753523A>C | CA349338743 | CHRNA1 | c.269T>G (p.Phe90Cys) c.833T>G (p.Phe278Cys) c.758T>G (p.Phe253Cys) c.512T>G (p.Phe171Cys) c.*402T>G (n.*402T>G) c.854T>G (p.Phe285Cys) c.779T>G (p.Phe260Cys) | |
| 2 | g.174753523A>G | CA349338746 | CHRNA1 | c.269T>C (p.Phe90Ser) c.833T>C (p.Phe278Ser) c.758T>C (p.Phe253Ser) c.512T>C (p.Phe171Ser) c.*402T>C (n.*402T>C) c.854T>C (p.Phe285Ser) c.779T>C (p.Phe260Ser) | |
| 2 | g.174753523A>T | CA349338742 | CHRNA1 | c.269T>A (p.Phe90Tyr) c.833T>A (p.Phe278Tyr) c.758T>A (p.Phe253Tyr) c.512T>A (p.Phe171Tyr) c.*402T>A (n.*402T>A) c.854T>A (p.Phe285Tyr) c.779T>A (p.Phe260Tyr) | |
| 2 | g.174753524A= | CA1308834034 | CHRNA1 | c.268T= (p.Phe90=) c.832T= (p.Phe278=) c.757T= (p.Phe253=) c.511T= (p.Phe171=) c.*401T= (n.*401T=) c.853T= (p.Phe285=) c.778T= (p.Phe260=) | |
| 2 | g.174753524A>C | CA128078 | CHRNA1 | c.268T>G (p.Phe90Val) c.832T>G (p.Phe278Val) c.757T>G (p.Phe253Val) c.511T>G (p.Phe171Val) c.*401T>G (n.*401T>G) c.853T>G (p.Phe285Val) c.778T>G (p.Phe260Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174753524A>G | CA349338754 | CHRNA1 | c.268T>C (p.Phe90Leu) c.832T>C (p.Phe278Leu) c.757T>C (p.Phe253Leu) c.511T>C (p.Phe171Leu) c.*401T>C (n.*401T>C) c.853T>C (p.Phe285Leu) c.778T>C (p.Phe260Leu) | |
| 2 | g.174753524A>T | CA349338756 | CHRNA1 | c.268T>A (p.Phe90Ile) c.832T>A (p.Phe278Ile) c.757T>A (p.Phe253Ile) c.511T>A (p.Phe171Ile) c.*401T>A (n.*401T>A) c.853T>A (p.Phe285Ile) c.778T>A (p.Phe260Ile) | |
| 2 | g.174753524_174753525delinsAT | CA1308834035 | CHRNA1 | c.267_268delinsAT (p.Val89=) c.831_832delinsAT (p.Val277=) c.756_757delinsAT (p.Val252=) c.510_511delinsAT (p.Val170=) c.*400_*401delinsAT (n.*400_*401delinsAT) c.852_853delinsAT (p.Val284=) c.777_778delinsAT (p.Val259=) | |
| 2 | g.174753525del | CA1039469441 | CHRNA1 | c.267del (p.Phe90SerfsTer11) c.831del (p.Phe278SerfsTer11) c.756del (p.Phe253SerfsTer11) c.756del (p.Phe253SerfsTer?) c.510del (p.Phe171SerfsTer11) c.*400del (n.*400del) c.852del (p.Phe285SerfsTer11) c.777del (p.Phe260SerfsTer11) | dbSNP |
| 2 | g.174753525T>A | CA430022703 | CHRNA1 | c.267A>T (p.Val89=) c.831A>T (p.Val277=) c.756A>T (p.Val252=) c.510A>T (p.Val170=) c.*400A>T (n.*400A>T) c.852A>T (p.Val284=) c.777A>T (p.Val259=) | |
| 2 | g.174753525T>C | CA430022704 | CHRNA1 | c.267A>G (p.Val89=) c.831A>G (p.Val277=) c.756A>G (p.Val252=) c.510A>G (p.Val170=) c.*400A>G (n.*400A>G) c.852A>G (p.Val284=) c.777A>G (p.Val259=) | |
| 2 | g.174753525T>G | CA430022706 | CHRNA1 | c.267A>C (p.Val89=) c.831A>C (p.Val277=) c.756A>C (p.Val252=) c.510A>C (p.Val170=) c.*400A>C (n.*400A>C) c.852A>C (p.Val284=) c.777A>C (p.Val259=) | gnomAD v4 |
| 2 | g.174753526A>C | CA349338760 | CHRNA1 | c.266T>G (p.Val89Gly) c.830T>G (p.Val277Gly) c.755T>G (p.Val252Gly) c.509T>G (p.Val170Gly) c.*399T>G (n.*399T>G) c.851T>G (p.Val284Gly) c.776T>G (p.Val259Gly) | |
| 2 | g.174753526A>G | CA349338762 | CHRNA1 | c.266T>C (p.Val89Ala) c.830T>C (p.Val277Ala) c.755T>C (p.Val252Ala) c.509T>C (p.Val170Ala) c.*399T>C (n.*399T>C) c.851T>C (p.Val284Ala) c.776T>C (p.Val259Ala) | |
| 2 | g.174753526A>T | CA349338764 | CHRNA1 | c.266T>A (p.Val89Glu) c.830T>A (p.Val277Glu) c.755T>A (p.Val252Glu) c.509T>A (p.Val170Glu) c.*399T>A (n.*399T>A) c.851T>A (p.Val284Glu) c.776T>A (p.Val259Glu) | |
| 2 | g.174753527C>A | CA349338766 | CHRNA1 | c.265G>T (p.Val89Leu) c.829G>T (p.Val277Leu) c.754G>T (p.Val252Leu) c.508G>T (p.Val170Leu) c.*398G>T (n.*398G>T) c.850G>T (p.Val284Leu) c.775G>T (p.Val259Leu) | gnomAD v4 |
| 2 | g.174753527C>G | CA349338770 | CHRNA1 | c.265G>C (p.Val89Leu) c.829G>C (p.Val277Leu) c.754G>C (p.Val252Leu) c.508G>C (p.Val170Leu) c.*398G>C (n.*398G>C) c.850G>C (p.Val284Leu) c.775G>C (p.Val259Leu) | |
| 2 | g.174753527C>T | CA349338768 | CHRNA1 | c.265G>A (p.Val89Ile) c.829G>A (p.Val277Ile) c.754G>A (p.Val252Ile) c.508G>A (p.Val170Ile) c.*398G>A (n.*398G>A) c.850G>A (p.Val284Ile) c.775G>A (p.Val259Ile) | gnomAD v4 |
| 2 | g.174753528C>A | CA430022708 | CHRNA1 | c.264G>T (p.Leu88=) c.828G>T (p.Leu276=) c.753G>T (p.Leu251=) c.507G>T (p.Leu169=) c.*397G>T (n.*397G>T) c.849G>T (p.Leu283=) c.774G>T (p.Leu258=) | |
| 2 | g.174753528C>G | CA430022710 | CHRNA1 | c.264G>C (p.Leu88=) c.828G>C (p.Leu276=) c.753G>C (p.Leu251=) c.507G>C (p.Leu169=) c.*397G>C (n.*397G>C) c.849G>C (p.Leu283=) c.774G>C (p.Leu258=) | |
| 2 | g.174753528C>T | CA430022711 | CHRNA1 | c.264G>A (p.Leu88=) c.828G>A (p.Leu276=) c.753G>A (p.Leu251=) c.507G>A (p.Leu169=) c.*397G>A (n.*397G>A) c.849G>A (p.Leu283=) c.774G>A (p.Leu258=) | |
| 2 | g.174753529A>C | CA349338775 | CHRNA1 | c.263T>G (p.Leu88Arg) c.827T>G (p.Leu276Arg) c.752T>G (p.Leu251Arg) c.506T>G (p.Leu169Arg) c.*396T>G (n.*396T>G) c.848T>G (p.Leu283Arg) c.773T>G (p.Leu258Arg) | |
| 2 | g.174753529A>G | CA349338778 | CHRNA1 | c.263T>C (p.Leu88Pro) c.827T>C (p.Leu276Pro) c.752T>C (p.Leu251Pro) c.506T>C (p.Leu169Pro) c.*396T>C (n.*396T>C) c.848T>C (p.Leu283Pro) c.773T>C (p.Leu258Pro) | |
| 2 | g.174753529A>T | CA349338781 | CHRNA1 | c.263T>A (p.Leu88Gln) c.827T>A (p.Leu276Gln) c.752T>A (p.Leu251Gln) c.506T>A (p.Leu169Gln) c.*396T>A (n.*396T>A) c.848T>A (p.Leu283Gln) c.773T>A (p.Leu258Gln) | |
| 2 | g.174753530G>A | CA430022712 | CHRNA1 | c.262C>T (p.Leu88=) c.826C>T (p.Leu276=) c.751C>T (p.Leu251=) c.505C>T (p.Leu169=) c.*395C>T (n.*395C>T) c.847C>T (p.Leu283=) c.772C>T (p.Leu258=) | |
| 2 | g.174753530G>C | CA349338784 | CHRNA1 | c.262C>G (p.Leu88Val) c.826C>G (p.Leu276Val) c.751C>G (p.Leu251Val) c.505C>G (p.Leu169Val) c.*395C>G (n.*395C>G) c.847C>G (p.Leu283Val) c.772C>G (p.Leu258Val) | |
| 2 | g.174753530G>T | CA349338789 | CHRNA1 | c.262C>A (p.Leu88Met) c.826C>A (p.Leu276Met) c.751C>A (p.Leu251Met) c.505C>A (p.Leu169Met) c.*395C>A (n.*395C>A) c.847C>A (p.Leu283Met) c.772C>A (p.Leu258Met) | |
| 2 | g.174753531G>A | CA1974481 | CHRNA1 | c.261C>T (p.Gly87=) c.825C>T (p.Gly275=) c.750C>T (p.Gly250=) c.504C>T (p.Gly168=) c.*394C>T (n.*394C>T) c.846C>T (p.Gly282=) c.771C>T (p.Gly257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753531G>C | CA430022716 | CHRNA1 | c.261C>G (p.Gly87=) c.825C>G (p.Gly275=) c.750C>G (p.Gly250=) c.504C>G (p.Gly168=) c.*394C>G (n.*394C>G) c.846C>G (p.Gly282=) c.771C>G (p.Gly257=) | |
| 2 | g.174753531G= | CA1308834036 | CHRNA1 | c.261C= (p.Gly87=) c.825C= (p.Gly275=) c.750C= (p.Gly250=) c.504C= (p.Gly168=) c.*394C= (n.*394C=) c.846C= (p.Gly282=) c.771C= (p.Gly257=) | |
| 2 | g.174753531G>T | CA60851919 | CHRNA1 | c.261C>A (p.Gly87=) c.825C>A (p.Gly275=) c.750C>A (p.Gly250=) c.504C>A (p.Gly168=) c.*394C>A (n.*394C>A) c.846C>A (p.Gly282=) c.771C>A (p.Gly257=) | dbSNP |
| 2 | g.174753532C>A | CA349338794 | CHRNA1 | c.260G>T (p.Gly87Val) c.824G>T (p.Gly275Val) c.749G>T (p.Gly250Val) c.503G>T (p.Gly168Val) c.*393G>T (n.*393G>T) c.845G>T (p.Gly282Val) c.770G>T (p.Gly257Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174753532C= | CA1308834037 | CHRNA1 | c.260G= (p.Gly87=) c.824G= (p.Gly275=) c.749G= (p.Gly250=) c.503G= (p.Gly168=) c.*393G= (n.*393G=) c.845G= (p.Gly282=) c.770G= (p.Gly257=) | |
| 2 | g.174753532C>G | CA349338793 | CHRNA1 | c.260G>C (p.Gly87Ala) c.824G>C (p.Gly275Ala) c.749G>C (p.Gly250Ala) c.503G>C (p.Gly168Ala) c.*393G>C (n.*393G>C) c.845G>C (p.Gly282Ala) c.770G>C (p.Gly257Ala) | |
| 2 | g.174753532C>T | CA349338795 | CHRNA1 | c.260G>A (p.Gly87Asp) c.824G>A (p.Gly275Asp) c.749G>A (p.Gly250Asp) c.503G>A (p.Gly168Asp) c.*393G>A (n.*393G>A) c.845G>A (p.Gly282Asp) c.770G>A (p.Gly257Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174753533C>A | CA349338797 | CHRNA1 | c.259G>T (p.Gly87Cys) c.823G>T (p.Gly275Cys) c.748G>T (p.Gly250Cys) c.502G>T (p.Gly168Cys) c.*392G>T (n.*392G>T) c.844G>T (p.Gly282Cys) c.769G>T (p.Gly257Cys) | |
| 2 | g.174753533C>G | CA349338799 | CHRNA1 | c.259G>C (p.Gly87Arg) c.823G>C (p.Gly275Arg) c.748G>C (p.Gly250Arg) c.502G>C (p.Gly168Arg) c.*392G>C (n.*392G>C) c.844G>C (p.Gly282Arg) c.769G>C (p.Gly257Arg) | |
| 2 | g.174753533C>T | CA349338802 | CHRNA1 | c.259G>A (p.Gly87Ser) c.823G>A (p.Gly275Ser) c.748G>A (p.Gly250Ser) c.502G>A (p.Gly168Ser) c.*392G>A (n.*392G>A) c.844G>A (p.Gly282Ser) c.769G>A (p.Gly257Ser) | |
| 2 | g.174753534A= | CA1308834038 | CHRNA1 | c.258T= (p.Thr86=) c.822T= (p.Thr274=) c.747T= (p.Thr249=) c.501T= (p.Thr167=) c.*391T= (n.*391T=) c.843T= (p.Thr281=) c.768T= (p.Thr256=) | |
| 2 | g.174753534A>C | CA430022721 | CHRNA1 | c.258T>G (p.Thr86=) c.822T>G (p.Thr274=) c.747T>G (p.Thr249=) c.501T>G (p.Thr167=) c.*391T>G (n.*391T>G) c.843T>G (p.Thr281=) c.768T>G (p.Thr256=) | |
| 2 | g.174753534A>G | CA430022722 | CHRNA1 | c.258T>C (p.Thr86=) c.822T>C (p.Thr274=) c.747T>C (p.Thr249=) c.501T>C (p.Thr167=) c.*391T>C (n.*391T>C) c.843T>C (p.Thr281=) c.768T>C (p.Thr256=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174753534A>T | CA430022723 | CHRNA1 | c.258T>A (p.Thr86=) c.822T>A (p.Thr274=) c.747T>A (p.Thr249=) c.501T>A (p.Thr167=) c.*391T>A (n.*391T>A) c.843T>A (p.Thr281=) c.768T>A (p.Thr256=) | |
| 2 | g.174753535G>A | CA349338804 | CHRNA1 | c.257C>T (p.Thr86Ile) c.821C>T (p.Thr274Ile) c.746C>T (p.Thr249Ile) c.500C>T (p.Thr167Ile) c.*390C>T (n.*390C>T) c.842C>T (p.Thr281Ile) c.767C>T (p.Thr256Ile) | |
| 2 | g.174753535G>C | CA1974482 | CHRNA1 | c.257C>G (p.Thr86Ser) c.821C>G (p.Thr274Ser) c.746C>G (p.Thr249Ser) c.500C>G (p.Thr167Ser) c.*390C>G (n.*390C>G) c.842C>G (p.Thr281Ser) c.767C>G (p.Thr256Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174753535G= | CA1308834039 | CHRNA1 | c.257C= (p.Thr86=) c.821C= (p.Thr274=) c.746C= (p.Thr249=) c.500C= (p.Thr167=) c.*390C= (n.*390C=) c.842C= (p.Thr281=) c.767C= (p.Thr256=) | |
| 2 | g.174753535G>T | CA349338808 | CHRNA1 | c.257C>A (p.Thr86Asn) c.821C>A (p.Thr274Asn) c.746C>A (p.Thr249Asn) c.500C>A (p.Thr167Asn) c.*390C>A (n.*390C>A) c.842C>A (p.Thr281Asn) c.767C>A (p.Thr256Asn) | ClinVar |
| 2 | g.174753536T>A | CA349338815 | CHRNA1 | c.256A>T (p.Thr86Ser) c.820A>T (p.Thr274Ser) c.745A>T (p.Thr249Ser) c.499A>T (p.Thr167Ser) c.*389A>T (n.*389A>T) c.841A>T (p.Thr281Ser) c.766A>T (p.Thr256Ser) | |
| 2 | g.174753536T>C | CA349338817 | CHRNA1 | c.256A>G (p.Thr86Ala) c.820A>G (p.Thr274Ala) c.745A>G (p.Thr249Ala) c.499A>G (p.Thr167Ala) c.*389A>G (n.*389A>G) c.841A>G (p.Thr281Ala) c.766A>G (p.Thr256Ala) | |
| 2 | g.174753536T>G | CA349338818 | CHRNA1 | c.256A>C (p.Thr86Pro) c.820A>C (p.Thr274Pro) c.745A>C (p.Thr249Pro) c.499A>C (p.Thr167Pro) c.*389A>C (n.*389A>C) c.841A>C (p.Thr281Pro) c.766A>C (p.Thr256Pro) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174753536T= | CA1308834040 | CHRNA1 | c.256A= (p.Thr86=) c.820A= (p.Thr274=) c.745A= (p.Thr249=) c.499A= (p.Thr167=) c.*389A= (n.*389A=) c.841A= (p.Thr281=) c.766A= (p.Thr256=) | |
| 2 | g.174753537T>A | CA349338822 | CHRNA1 | c.255A>T (p.Leu85Phe) c.819A>T (p.Leu273Phe) c.744A>T (p.Leu248Phe) c.498A>T (p.Leu166Phe) c.*388A>T (n.*388A>T) c.840A>T (p.Leu280Phe) c.765A>T (p.Leu255Phe) | |
| 2 | g.174753537T>C | CA430022725 | CHRNA1 | c.255A>G (p.Leu85=) c.819A>G (p.Leu273=) c.744A>G (p.Leu248=) c.498A>G (p.Leu166=) c.*388A>G (n.*388A>G) c.840A>G (p.Leu280=) c.765A>G (p.Leu255=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753537T>G | CA349338833 | CHRNA1 | c.255A>C (p.Leu85Phe) c.819A>C (p.Leu273Phe) c.744A>C (p.Leu248Phe) c.498A>C (p.Leu166Phe) c.*388A>C (n.*388A>C) c.840A>C (p.Leu280Phe) c.765A>C (p.Leu255Phe) | |
| 2 | g.174753537T= | CA1308834041 | CHRNA1 | c.255A= (p.Leu85=) c.819A= (p.Leu273=) c.744A= (p.Leu248=) c.498A= (p.Leu166=) c.*388A= (n.*388A=) c.840A= (p.Leu280=) c.765A= (p.Leu255=) | |
| 2 | g.174753538A>C | CA349338839 | CHRNA1 | c.254T>G (p.Leu85Ter) c.818T>G (p.Leu273Ter) c.743T>G (p.Leu248Ter) c.497T>G (p.Leu166Ter) c.*387T>G (n.*387T>G) c.839T>G (p.Leu280Ter) c.764T>G (p.Leu255Ter) | |
| 2 | g.174753538A>G | CA349338840 | CHRNA1 | c.254T>C (p.Leu85Ser) c.818T>C (p.Leu273Ser) c.743T>C (p.Leu248Ser) c.497T>C (p.Leu166Ser) c.*387T>C (n.*387T>C) c.839T>C (p.Leu280Ser) c.764T>C (p.Leu255Ser) | |
| 2 | g.174753538A>T | CA349338845 | CHRNA1 | c.254T>A (p.Leu85Ter) c.818T>A (p.Leu273Ter) c.743T>A (p.Leu248Ter) c.497T>A (p.Leu166Ter) c.*387T>A (n.*387T>A) c.839T>A (p.Leu280Ter) c.764T>A (p.Leu255Ter) | |
| 2 | g.174753539A>C | CA349338848 | CHRNA1 | c.253T>G (p.Leu85Val) c.817T>G (p.Leu273Val) c.742T>G (p.Leu248Val) c.496T>G (p.Leu166Val) c.*386T>G (n.*386T>G) c.838T>G (p.Leu280Val) c.763T>G (p.Leu255Val) | |
| 2 | g.174753539A>G | CA430022727 | CHRNA1 | c.253T>C (p.Leu85=) c.817T>C (p.Leu273=) c.742T>C (p.Leu248=) c.496T>C (p.Leu166=) c.*386T>C (n.*386T>C) c.838T>C (p.Leu280=) c.763T>C (p.Leu255=) | |
| 2 | g.174753539A>T | CA349338847 | CHRNA1 | c.253T>A (p.Leu85Ile) c.817T>A (p.Leu273Ile) c.742T>A (p.Leu248Ile) c.496T>A (p.Leu166Ile) c.*386T>A (n.*386T>A) c.838T>A (p.Leu280Ile) c.763T>A (p.Leu255Ile) | |
| 2 | g.174753540G>A | CA430022730 | CHRNA1 | c.252C>T (p.Phe84=) c.816C>T (p.Phe272=) c.741C>T (p.Phe247=) c.495C>T (p.Phe165=) c.*385C>T (n.*385C>T) c.837C>T (p.Phe279=) c.762C>T (p.Phe254=) | |
| 2 | g.174753540G>C | CA349338849 | CHRNA1 | c.252C>G (p.Phe84Leu) c.816C>G (p.Phe272Leu) c.741C>G (p.Phe247Leu) c.495C>G (p.Phe165Leu) c.*385C>G (n.*385C>G) c.837C>G (p.Phe279Leu) c.762C>G (p.Phe254Leu) | |
| 2 | g.174753540G>T | CA349338850 | CHRNA1 | c.252C>A (p.Phe84Leu) c.816C>A (p.Phe272Leu) c.741C>A (p.Phe247Leu) c.495C>A (p.Phe165Leu) c.*385C>A (n.*385C>A) c.837C>A (p.Phe279Leu) c.762C>A (p.Phe254Leu) | |
| 2 | g.174753541A>C | CA349338851 | CHRNA1 | c.251T>G (p.Phe84Cys) c.815T>G (p.Phe272Cys) c.740T>G (p.Phe247Cys) c.494T>G (p.Phe165Cys) c.*384T>G (n.*384T>G) c.836T>G (p.Phe279Cys) c.761T>G (p.Phe254Cys) | |
| 2 | g.174753541A>G | CA349338855 | CHRNA1 | c.251T>C (p.Phe84Ser) c.815T>C (p.Phe272Ser) c.740T>C (p.Phe247Ser) c.494T>C (p.Phe165Ser) c.*384T>C (n.*384T>C) c.836T>C (p.Phe279Ser) c.761T>C (p.Phe254Ser) | |
| 2 | g.174753541A>T | CA349338858 | CHRNA1 | c.251T>A (p.Phe84Tyr) c.815T>A (p.Phe272Tyr) c.740T>A (p.Phe247Tyr) c.494T>A (p.Phe165Tyr) c.*384T>A (n.*384T>A) c.836T>A (p.Phe279Tyr) c.761T>A (p.Phe254Tyr) | |
| 2 | g.174753542A>C | CA349338865 | CHRNA1 | c.250T>G (p.Phe84Val) c.814T>G (p.Phe272Val) c.739T>G (p.Phe247Val) c.493T>G (p.Phe165Val) c.*383T>G (n.*383T>G) c.835T>G (p.Phe279Val) c.760T>G (p.Phe254Val) | |
| 2 | g.174753542A>G | CA349338861 | CHRNA1 | c.250T>C (p.Phe84Leu) c.814T>C (p.Phe272Leu) c.739T>C (p.Phe247Leu) c.493T>C (p.Phe165Leu) c.*383T>C (n.*383T>C) c.835T>C (p.Phe279Leu) c.760T>C (p.Phe254Leu) | |
| 2 | g.174753542A>T | CA349338859 | CHRNA1 | c.250T>A (p.Phe84Ile) c.814T>A (p.Phe272Ile) c.739T>A (p.Phe247Ile) c.493T>A (p.Phe165Ile) c.*383T>A (n.*383T>A) c.835T>A (p.Phe279Ile) c.760T>A (p.Phe254Ile) | |
| 2 | g.174753544_174753546del | CA2577163865 | CHRNA1 | c.248_250del (p.Ser83del) c.812_814del (p.Ser271del) c.737_739del (p.Ser246del) c.491_493del (p.Ser164del) c.*381_*383del (n.*381_*383del) c.833_835del (p.Ser278del) c.758_760del (p.Ser253del) | gnomAD v4 |
| 2 | g.174753543G>A | CA430022733 | CHRNA1 | c.249C>T (p.Ser83=) c.813C>T (p.Ser271=) c.738C>T (p.Ser246=) c.492C>T (p.Ser164=) c.*382C>T (n.*382C>T) c.834C>T (p.Ser278=) c.759C>T (p.Ser253=) | dbSNP gnomAD v4 |
| 2 | g.174753543G>C | CA430022735 | CHRNA1 | c.249C>G (p.Ser83=) c.813C>G (p.Ser271=) c.738C>G (p.Ser246=) c.492C>G (p.Ser164=) c.*382C>G (n.*382C>G) c.834C>G (p.Ser278=) c.759C>G (p.Ser253=) | gnomAD v4 |
| 2 | g.174753543G= | CA1308834042 | CHRNA1 | c.249C= (p.Ser83=) c.813C= (p.Ser271=) c.738C= (p.Ser246=) c.492C= (p.Ser164=) c.*382C= (n.*382C=) c.834C= (p.Ser278=) c.759C= (p.Ser253=) | |
| 2 | g.174753543G>T | CA430022734 | CHRNA1 | c.249C>A (p.Ser83=) c.813C>A (p.Ser271=) c.738C>A (p.Ser246=) c.492C>A (p.Ser164=) c.*382C>A (n.*382C>A) c.834C>A (p.Ser278=) c.759C>A (p.Ser253=) | dbSNP |
| 2 | g.174753544G>A | CA269930 | CHRNA1 | c.248C>T (p.Ser83Phe) c.812C>T (p.Ser271Phe) c.737C>T (p.Ser246Phe) c.491C>T (p.Ser164Phe) c.*381C>T (n.*381C>T) c.833C>T (p.Ser278Phe) c.758C>T (p.Ser253Phe) | ClinVar dbSNP |
| 2 | g.174753544G>C | CA349338875 | CHRNA1 | c.248C>G (p.Ser83Cys) c.812C>G (p.Ser271Cys) c.737C>G (p.Ser246Cys) c.491C>G (p.Ser164Cys) c.*381C>G (n.*381C>G) c.833C>G (p.Ser278Cys) c.758C>G (p.Ser253Cys) | |
| 2 | g.174753544G= | CA1308834043 | CHRNA1 | c.248C= (p.Ser83=) c.812C= (p.Ser271=) c.737C= (p.Ser246=) c.491C= (p.Ser164=) c.*381C= (n.*381C=) c.833C= (p.Ser278=) c.758C= (p.Ser253=) | |
| 2 | g.174753544G>T | CA269927 | CHRNA1 | c.248C>A (p.Ser83Tyr) c.812C>A (p.Ser271Tyr) c.737C>A (p.Ser246Tyr) c.491C>A (p.Ser164Tyr) c.*381C>A (n.*381C>A) c.833C>A (p.Ser278Tyr) c.758C>A (p.Ser253Tyr) | ClinVar dbSNP |
| 2 | g.174753545A>C | CA349338883 | CHRNA1 | c.247T>G (p.Ser83Ala) c.811T>G (p.Ser271Ala) c.736T>G (p.Ser246Ala) c.490T>G (p.Ser164Ala) c.*380T>G (n.*380T>G) c.832T>G (p.Ser278Ala) c.757T>G (p.Ser253Ala) | |
| 2 | g.174753545A>G | CA349338886 | CHRNA1 | c.247T>C (p.Ser83Pro) c.811T>C (p.Ser271Pro) c.736T>C (p.Ser246Pro) c.490T>C (p.Ser164Pro) c.*380T>C (n.*380T>C) c.832T>C (p.Ser278Pro) c.757T>C (p.Ser253Pro) | |
| 2 | g.174753545A>T | CA349338887 | CHRNA1 | c.247T>A (p.Ser83Thr) c.811T>A (p.Ser271Thr) c.736T>A (p.Ser246Thr) c.490T>A (p.Ser164Thr) c.*380T>A (n.*380T>A) c.832T>A (p.Ser278Thr) c.757T>A (p.Ser253Thr) | |
| 2 | g.174753546G>A | CA1974483 | CHRNA1 | c.246C>T (p.Phe82=) c.810C>T (p.Phe270=) c.735C>T (p.Phe245=) c.489C>T (p.Phe163=) c.*379C>T (n.*379C>T) c.831C>T (p.Phe277=) c.756C>T (p.Phe252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753546G>C | CA349338888 | CHRNA1 | c.246C>G (p.Phe82Leu) c.810C>G (p.Phe270Leu) c.735C>G (p.Phe245Leu) c.489C>G (p.Phe163Leu) c.*379C>G (n.*379C>G) c.831C>G (p.Phe277Leu) c.756C>G (p.Phe252Leu) | |
| 2 | g.174753546G= | CA1308834044 | CHRNA1 | c.246C= (p.Phe82=) c.810C= (p.Phe270=) c.735C= (p.Phe245=) c.489C= (p.Phe163=) c.*379C= (n.*379C=) c.831C= (p.Phe277=) c.756C= (p.Phe252=) | |
| 2 | g.174753546G>T | CA1974484 | CHRNA1 | c.246C>A (p.Phe82Leu) c.810C>A (p.Phe270Leu) c.735C>A (p.Phe245Leu) c.489C>A (p.Phe163Leu) c.*379C>A (n.*379C>A) c.831C>A (p.Phe277Leu) c.756C>A (p.Phe252Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174753547A>C | CA349338889 | CHRNA1 | c.245T>G (p.Phe82Cys) c.809T>G (p.Phe270Cys) c.734T>G (p.Phe245Cys) c.488T>G (p.Phe163Cys) c.*378T>G (n.*378T>G) c.830T>G (p.Phe277Cys) c.755T>G (p.Phe252Cys) | |
| 2 | g.174753547A>G | CA349338895 | CHRNA1 | c.245T>C (p.Phe82Ser) c.809T>C (p.Phe270Ser) c.734T>C (p.Phe245Ser) c.488T>C (p.Phe163Ser) c.*378T>C (n.*378T>C) c.830T>C (p.Phe277Ser) c.755T>C (p.Phe252Ser) | |
| 2 | g.174753547A>T | CA349338896 | CHRNA1 | c.245T>A (p.Phe82Tyr) c.809T>A (p.Phe270Tyr) c.734T>A (p.Phe245Tyr) c.488T>A (p.Phe163Tyr) c.*378T>A (n.*378T>A) c.830T>A (p.Phe277Tyr) c.755T>A (p.Phe252Tyr) | |
| 2 | g.174753548A>C | CA349338897 | CHRNA1 | c.244T>G (p.Phe82Val) c.808T>G (p.Phe270Val) c.733T>G (p.Phe245Val) c.487T>G (p.Phe163Val) c.*377T>G (n.*377T>G) c.829T>G (p.Phe277Val) c.754T>G (p.Phe252Val) | |
| 2 | g.174753548A>G | CA349338900 | CHRNA1 | c.244T>C (p.Phe82Leu) c.808T>C (p.Phe270Leu) c.733T>C (p.Phe245Leu) c.487T>C (p.Phe163Leu) c.*377T>C (n.*377T>C) c.829T>C (p.Phe277Leu) c.754T>C (p.Phe252Leu) | |
| 2 | g.174753548A>T | CA349338912 | CHRNA1 | c.244T>A (p.Phe82Ile) c.808T>A (p.Phe270Ile) c.733T>A (p.Phe245Ile) c.487T>A (p.Phe163Ile) c.*377T>A (n.*377T>A) c.829T>A (p.Phe277Ile) c.754T>A (p.Phe252Ile) | |
| 2 | g.174753549G>A | CA430022743 | CHRNA1 | c.243C>T (p.Leu81=) c.807C>T (p.Leu269=) c.732C>T (p.Leu244=) c.486C>T (p.Leu162=) c.*376C>T (n.*376C>T) c.828C>T (p.Leu276=) c.753C>T (p.Leu251=) | gnomAD v4 |
| 2 | g.174753549G>C | CA430022745 | CHRNA1 | c.243C>G (p.Leu81=) c.807C>G (p.Leu269=) c.732C>G (p.Leu244=) c.486C>G (p.Leu162=) c.*376C>G (n.*376C>G) c.828C>G (p.Leu276=) c.753C>G (p.Leu251=) | |
| 2 | g.174753549G>T | CA430022744 | CHRNA1 | c.243C>A (p.Leu81=) c.807C>A (p.Leu269=) c.732C>A (p.Leu244=) c.486C>A (p.Leu162=) c.*376C>A (n.*376C>A) c.828C>A (p.Leu276=) c.753C>A (p.Leu251=) | |
| 2 | g.174753550A>C | CA349338918 | CHRNA1 | c.242T>G (p.Leu81Arg) c.806T>G (p.Leu269Arg) c.731T>G (p.Leu244Arg) c.485T>G (p.Leu162Arg) c.*375T>G (n.*375T>G) c.827T>G (p.Leu276Arg) c.752T>G (p.Leu251Arg) | |
| 2 | g.174753550A>G | CA349338926 | CHRNA1 | c.242T>C (p.Leu81Pro) c.806T>C (p.Leu269Pro) c.731T>C (p.Leu244Pro) c.485T>C (p.Leu162Pro) c.*375T>C (n.*375T>C) c.827T>C (p.Leu276Pro) c.752T>C (p.Leu251Pro) | |
| 2 | g.174753550A>T | CA349338929 | CHRNA1 | c.242T>A (p.Leu81His) c.806T>A (p.Leu269His) c.731T>A (p.Leu244His) c.485T>A (p.Leu162His) c.*375T>A (n.*375T>A) c.827T>A (p.Leu276His) c.752T>A (p.Leu251His) | |
| 2 | g.174753551G>A | CA349338932 | CHRNA1 | c.241C>T (p.Leu81Phe) c.805C>T (p.Leu269Phe) c.730C>T (p.Leu244Phe) c.484C>T (p.Leu162Phe) c.*374C>T (n.*374C>T) c.826C>T (p.Leu276Phe) c.751C>T (p.Leu251Phe) | dbSNP gnomAD v2 |
| 2 | g.174753551G>C | CA349338936 | CHRNA1 | c.241C>G (p.Leu81Val) c.805C>G (p.Leu269Val) c.730C>G (p.Leu244Val) c.484C>G (p.Leu162Val) c.*374C>G (n.*374C>G) c.826C>G (p.Leu276Val) c.751C>G (p.Leu251Val) | |
| 2 | g.174753551G= | CA1308834045 | CHRNA1 | c.241C= (p.Leu81=) c.805C= (p.Leu269=) c.730C= (p.Leu244=) c.484C= (p.Leu162=) c.*374C= (n.*374C=) c.826C= (p.Leu276=) c.751C= (p.Leu251=) | |
| 2 | g.174753551G>T | CA349338950 | CHRNA1 | c.241C>A (p.Leu81Ile) c.805C>A (p.Leu269Ile) c.730C>A (p.Leu244Ile) c.484C>A (p.Leu162Ile) c.*374C>A (n.*374C>A) c.826C>A (p.Leu276Ile) c.751C>A (p.Leu251Ile) | |
| 2 | g.174753552C>A | CA430022746 | CHRNA1 | c.240G>T (p.Leu80=) c.804G>T (p.Leu268=) c.729G>T (p.Leu243=) c.483G>T (p.Leu161=) c.*373G>T (n.*373G>T) c.825G>T (p.Leu275=) c.750G>T (p.Leu250=) | |
| 2 | g.174753552C= | CA1308834046 | CHRNA1 | c.240G= (p.Leu80=) c.804G= (p.Leu268=) c.729G= (p.Leu243=) c.483G= (p.Leu161=) c.*373G= (n.*373G=) c.825G= (p.Leu275=) c.750G= (p.Leu250=) | |
| 2 | g.174753552C>G | CA430022747 | CHRNA1 | c.240G>C (p.Leu80=) c.804G>C (p.Leu268=) c.729G>C (p.Leu243=) c.483G>C (p.Leu161=) c.*373G>C (n.*373G>C) c.825G>C (p.Leu275=) c.750G>C (p.Leu250=) | |
| 2 | g.174753552C>T | CA1974485 | CHRNA1 | c.240G>A (p.Leu80=) c.804G>A (p.Leu268=) c.729G>A (p.Leu243=) c.483G>A (p.Leu161=) c.*373G>A (n.*373G>A) c.825G>A (p.Leu275=) c.750G>A (p.Leu250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174753553A>C | CA349338976 | CHRNA1 | c.239T>G (p.Leu80Arg) c.803T>G (p.Leu268Arg) c.728T>G (p.Leu243Arg) c.482T>G (p.Leu161Arg) c.*372T>G (n.*372T>G) c.824T>G (p.Leu275Arg) c.749T>G (p.Leu250Arg) | |
| 2 | g.174753553A>G | CA349338962 | CHRNA1 | c.239T>C (p.Leu80Pro) c.803T>C (p.Leu268Pro) c.728T>C (p.Leu243Pro) c.482T>C (p.Leu161Pro) c.*372T>C (n.*372T>C) c.824T>C (p.Leu275Pro) c.749T>C (p.Leu250Pro) | |
| 2 | g.174753553A>T | CA349338968 | CHRNA1 | c.239T>A (p.Leu80Gln) c.803T>A (p.Leu268Gln) c.728T>A (p.Leu243Gln) c.482T>A (p.Leu161Gln) c.*372T>A (n.*372T>A) c.824T>A (p.Leu275Gln) c.749T>A (p.Leu250Gln) | |
| 2 | g.174753554G>A | CA430022748 | CHRNA1 | c.238C>T (p.Leu80=) c.802C>T (p.Leu268=) c.727C>T (p.Leu243=) c.481C>T (p.Leu161=) c.*371C>T (n.*371C>T) c.823C>T (p.Leu275=) c.748C>T (p.Leu250=) | |
| 2 | g.174753554G>C | CA349338977 | CHRNA1 | c.238C>G (p.Leu80Val) c.802C>G (p.Leu268Val) c.727C>G (p.Leu243Val) c.481C>G (p.Leu161Val) c.*371C>G (n.*371C>G) c.823C>G (p.Leu275Val) c.748C>G (p.Leu250Val) | |
| 2 | g.174753554G>T | CA349338979 | CHRNA1 | c.238C>A (p.Leu80Met) c.802C>A (p.Leu268Met) c.727C>A (p.Leu243Met) c.481C>A (p.Leu161Met) c.*371C>A (n.*371C>A) c.823C>A (p.Leu275Met) c.748C>A (p.Leu250Met) | |
| 2 | g.174753555G>A | CA430022749 | CHRNA1 | c.237C>T (p.Cys79=) c.801C>T (p.Cys267=) c.726C>T (p.Cys242=) c.480C>T (p.Cys160=) c.*370C>T (n.*370C>T) c.822C>T (p.Cys274=) c.747C>T (p.Cys249=) | |
| 2 | g.174753555G>C | CA349338983 | CHRNA1 | c.237C>G (p.Cys79Trp) c.801C>G (p.Cys267Trp) c.726C>G (p.Cys242Trp) c.480C>G (p.Cys160Trp) c.*370C>G (n.*370C>G) c.822C>G (p.Cys274Trp) c.747C>G (p.Cys249Trp) | |
| 2 | g.174753555G>T | CA349338990 | CHRNA1 | c.237C>A (p.Cys79Ter) c.801C>A (p.Cys267Ter) c.726C>A (p.Cys242Ter) c.480C>A (p.Cys160Ter) c.*370C>A (n.*370C>A) c.822C>A (p.Cys274Ter) c.747C>A (p.Cys249Ter) | |
| 2 | g.174753556C>A | CA349339003 | CHRNA1 | c.236G>T (p.Cys79Phe) c.800G>T (p.Cys267Phe) c.725G>T (p.Cys242Phe) c.479G>T (p.Cys160Phe) c.*369G>T (n.*369G>T) c.821G>T (p.Cys274Phe) c.746G>T (p.Cys249Phe) | dbSNP gnomAD v2 |
| 2 | g.174753556C= | CA1308834047 | CHRNA1 | c.236G= (p.Cys79=) c.800G= (p.Cys267=) c.725G= (p.Cys242=) c.479G= (p.Cys160=) c.*369G= (n.*369G=) c.821G= (p.Cys274=) c.746G= (p.Cys249=) | |
| 2 | g.174753556C>G | CA349339004 | CHRNA1 | c.236G>C (p.Cys79Ser) c.800G>C (p.Cys267Ser) c.725G>C (p.Cys242Ser) c.479G>C (p.Cys160Ser) c.*369G>C (n.*369G>C) c.821G>C (p.Cys274Ser) c.746G>C (p.Cys249Ser) | |
| 2 | g.174753556C>T | CA349339009 | CHRNA1 | c.236G>A (p.Cys79Tyr) c.800G>A (p.Cys267Tyr) c.725G>A (p.Cys242Tyr) c.479G>A (p.Cys160Tyr) c.*369G>A (n.*369G>A) c.821G>A (p.Cys274Tyr) c.746G>A (p.Cys249Tyr) | |
| 2 | g.174753557del | CA2662020933 | CHRNA1 | c.235del (p.Cys79AlafsTer7) c.799del (p.Cys267AlafsTer7) c.724del (p.Cys242AlafsTer7) c.478del (p.Cys160AlafsTer7) c.*368del (n.*368del) c.820del (p.Cys274AlafsTer7) c.745del (p.Cys249AlafsTer7) | gnomAD v4 |
| 2 | g.174753557A>C | CA349339013 | CHRNA1 | c.235T>G (p.Cys79Gly) c.799T>G (p.Cys267Gly) c.724T>G (p.Cys242Gly) c.478T>G (p.Cys160Gly) c.*368T>G (n.*368T>G) c.820T>G (p.Cys274Gly) c.745T>G (p.Cys249Gly) | |
| 2 | g.174753557A>G | CA349339014 | CHRNA1 | c.235T>C (p.Cys79Arg) c.799T>C (p.Cys267Arg) c.724T>C (p.Cys242Arg) c.478T>C (p.Cys160Arg) c.*368T>C (n.*368T>C) c.820T>C (p.Cys274Arg) c.745T>C (p.Cys249Arg) | |
| 2 | g.174753557A>T | CA349339015 | CHRNA1 | c.235T>A (p.Cys79Ser) c.799T>A (p.Cys267Ser) c.724T>A (p.Cys242Ser) c.478T>A (p.Cys160Ser) c.*368T>A (n.*368T>A) c.820T>A (p.Cys274Ser) c.745T>A (p.Cys249Ser) | |
| 2 | g.174753558G>A | CA1974486 | CHRNA1 | c.234C>T (p.Pro78=) c.798C>T (p.Pro266=) c.723C>T (p.Pro241=) c.477C>T (p.Pro159=) c.*367C>T (n.*367C>T) c.819C>T (p.Pro273=) c.744C>T (p.Pro248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753558G>C | CA430022751 | CHRNA1 | c.234C>G (p.Pro78=) c.798C>G (p.Pro266=) c.723C>G (p.Pro241=) c.477C>G (p.Pro159=) c.*367C>G (n.*367C>G) c.819C>G (p.Pro273=) c.744C>G (p.Pro248=) | |
| 2 | g.174753558G= | CA1308834048 | CHRNA1 | c.234C= (p.Pro78=) c.798C= (p.Pro266=) c.723C= (p.Pro241=) c.477C= (p.Pro159=) c.*367C= (n.*367C=) c.819C= (p.Pro273=) c.744C= (p.Pro248=) | |
| 2 | g.174753558G>T | CA430022752 | CHRNA1 | c.234C>A (p.Pro78=) c.798C>A (p.Pro266=) c.723C>A (p.Pro241=) c.477C>A (p.Pro159=) c.*367C>A (n.*367C>A) c.819C>A (p.Pro273=) c.744C>A (p.Pro248=) | |
| 2 | g.174753559G>A | CA349339034 | CHRNA1 | c.233C>T (p.Pro78Leu) c.797C>T (p.Pro266Leu) c.722C>T (p.Pro241Leu) c.476C>T (p.Pro159Leu) c.*366C>T (n.*366C>T) c.818C>T (p.Pro273Leu) c.743C>T (p.Pro248Leu) | |
| 2 | g.174753559G>C | CA349339029 | CHRNA1 | c.233C>G (p.Pro78Arg) c.797C>G (p.Pro266Arg) c.722C>G (p.Pro241Arg) c.476C>G (p.Pro159Arg) c.*366C>G (n.*366C>G) c.818C>G (p.Pro273Arg) c.743C>G (p.Pro248Arg) | |
| 2 | g.174753559G>T | CA349339022 | CHRNA1 | c.233C>A (p.Pro78His) c.797C>A (p.Pro266His) c.722C>A (p.Pro241His) c.476C>A (p.Pro159His) c.*366C>A (n.*366C>A) c.818C>A (p.Pro273His) c.743C>A (p.Pro248His) | |
| 2 | g.174753560G>A | CA349339038 | CHRNA1 | c.232C>T (p.Pro78Ser) c.796C>T (p.Pro266Ser) c.721C>T (p.Pro241Ser) c.475C>T (p.Pro159Ser) c.*365C>T (n.*365C>T) c.817C>T (p.Pro273Ser) c.742C>T (p.Pro248Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174753560G>C | CA349339051 | CHRNA1 | c.232C>G (p.Pro78Ala) c.796C>G (p.Pro266Ala) c.721C>G (p.Pro241Ala) c.475C>G (p.Pro159Ala) c.*365C>G (n.*365C>G) c.817C>G (p.Pro273Ala) c.742C>G (p.Pro248Ala) | |
| 2 | g.174753560G= | CA1308834049 | CHRNA1 | c.232C= (p.Pro78=) c.796C= (p.Pro266=) c.721C= (p.Pro241=) c.475C= (p.Pro159=) c.*365C= (n.*365C=) c.817C= (p.Pro273=) c.742C= (p.Pro248=) | |
| 2 | g.174753560G>T | CA349339047 | CHRNA1 | c.232C>A (p.Pro78Thr) c.796C>A (p.Pro266Thr) c.721C>A (p.Pro241Thr) c.475C>A (p.Pro159Thr) c.*365C>A (n.*365C>A) c.817C>A (p.Pro273Thr) c.742C>A (p.Pro248Thr) | |
| 2 | g.174753561G>A | CA430022754 | CHRNA1 | c.231C>T (p.Ile77=) c.795C>T (p.Ile265=) c.720C>T (p.Ile240=) c.474C>T (p.Ile158=) c.*364C>T (n.*364C>T) c.816C>T (p.Ile272=) c.741C>T (p.Ile247=) | gnomAD v4 |
| 2 | g.174753561G>C | CA349339054 | CHRNA1 | c.231C>G (p.Ile77Met) c.795C>G (p.Ile265Met) c.720C>G (p.Ile240Met) c.474C>G (p.Ile158Met) c.*364C>G (n.*364C>G) c.816C>G (p.Ile272Met) c.741C>G (p.Ile247Met) | |
| 2 | g.174753561G>T | CA430022755 | CHRNA1 | c.231C>A (p.Ile77=) c.795C>A (p.Ile265=) c.720C>A (p.Ile240=) c.474C>A (p.Ile158=) c.*364C>A (n.*364C>A) c.816C>A (p.Ile272=) c.741C>A (p.Ile247=) | COSMIC |
| 2 | g.174753562A>C | CA349339065 | CHRNA1 | c.230T>G (p.Ile77Ser) c.794T>G (p.Ile265Ser) c.719T>G (p.Ile240Ser) c.473T>G (p.Ile158Ser) c.*363T>G (n.*363T>G) c.815T>G (p.Ile272Ser) c.740T>G (p.Ile247Ser) | |
| 2 | g.174753562A>G | CA349339066 | CHRNA1 | c.230T>C (p.Ile77Thr) c.794T>C (p.Ile265Thr) c.719T>C (p.Ile240Thr) c.473T>C (p.Ile158Thr) c.*363T>C (n.*363T>C) c.815T>C (p.Ile272Thr) c.740T>C (p.Ile247Thr) | |
| 2 | g.174753562A>T | CA349339067 | CHRNA1 | c.230T>A (p.Ile77Asn) c.794T>A (p.Ile265Asn) c.719T>A (p.Ile240Asn) c.473T>A (p.Ile158Asn) c.*363T>A (n.*363T>A) c.815T>A (p.Ile272Asn) c.740T>A (p.Ile247Asn) | |
| 2 | g.174753563T>A | CA349339074 | CHRNA1 | c.229A>T (p.Ile77Phe) c.793A>T (p.Ile265Phe) c.718A>T (p.Ile240Phe) c.472A>T (p.Ile158Phe) c.*362A>T (n.*362A>T) c.814A>T (p.Ile272Phe) c.739A>T (p.Ile247Phe) | |
| 2 | g.174753563T>C | CA349339080 | CHRNA1 | c.229A>G (p.Ile77Val) c.793A>G (p.Ile265Val) c.718A>G (p.Ile240Val) c.472A>G (p.Ile158Val) c.*362A>G (n.*362A>G) c.814A>G (p.Ile272Val) c.739A>G (p.Ile247Val) | |
| 2 | g.174753563T>G | CA349339082 | CHRNA1 | c.229A>C (p.Ile77Leu) c.793A>C (p.Ile265Leu) c.718A>C (p.Ile240Leu) c.472A>C (p.Ile158Leu) c.*362A>C (n.*362A>C) c.814A>C (p.Ile272Leu) c.739A>C (p.Ile247Leu) | |
| 2 | g.174753564G>A | CA1974487 | CHRNA1 | c.228C>T (p.Ile76=) c.792C>T (p.Ile264=) c.717C>T (p.Ile239=) c.471C>T (p.Ile157=) c.*361C>T (n.*361C>T) c.813C>T (p.Ile271=) c.738C>T (p.Ile246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174753564G>C | CA349339085 | CHRNA1 | c.228C>G (p.Ile76Met) c.792C>G (p.Ile264Met) c.717C>G (p.Ile239Met) c.471C>G (p.Ile157Met) c.*361C>G (n.*361C>G) c.813C>G (p.Ile271Met) c.738C>G (p.Ile246Met) | |
| 2 | g.174753564G= | CA1308834050 | CHRNA1 | c.228C= (p.Ile76=) c.792C= (p.Ile264=) c.717C= (p.Ile239=) c.471C= (p.Ile157=) c.*361C= (n.*361C=) c.813C= (p.Ile271=) c.738C= (p.Ile246=) | |
| 2 | g.174753564G>T | CA430022758 | CHRNA1 | c.228C>A (p.Ile76=) c.792C>A (p.Ile264=) c.717C>A (p.Ile239=) c.471C>A (p.Ile157=) c.*361C>A (n.*361C>A) c.813C>A (p.Ile271=) c.738C>A (p.Ile246=) | gnomAD v4 |
| 2 | g.174753565A>C | CA349339086 | CHRNA1 | c.227T>G (p.Ile76Ser) c.791T>G (p.Ile264Ser) c.716T>G (p.Ile239Ser) c.470T>G (p.Ile157Ser) c.*360T>G (n.*360T>G) c.812T>G (p.Ile271Ser) c.737T>G (p.Ile246Ser) | COSMIC |
| 2 | g.174753565A>G | CA349339088 | CHRNA1 | c.227T>C (p.Ile76Thr) c.791T>C (p.Ile264Thr) c.716T>C (p.Ile239Thr) c.470T>C (p.Ile157Thr) c.*360T>C (n.*360T>C) c.812T>C (p.Ile271Thr) c.737T>C (p.Ile246Thr) | |
| 2 | g.174753565A>T | CA349339090 | CHRNA1 | c.227T>A (p.Ile76Asn) c.791T>A (p.Ile264Asn) c.716T>A (p.Ile239Asn) c.470T>A (p.Ile157Asn) c.*360T>A (n.*360T>A) c.812T>A (p.Ile271Asn) c.737T>A (p.Ile246Asn) | |
| 2 | g.174753565_174753568del | CA2501216401 | CHRNA1 | c.224_227del (p.Val75AlafsTer10) c.788_791del (p.Val263AlafsTer10) c.713_716del (p.Val238AlafsTer10) c.467_470del (p.Val156AlafsTer10) c.*357_*360del (n.*357_*360del) c.809_812del (p.Val270AlafsTer10) c.734_737del (p.Val245AlafsTer10) | |
| 2 | g.174753566T>A | CA349339093 | CHRNA1 | c.226A>T (p.Ile76Phe) c.790A>T (p.Ile264Phe) c.715A>T (p.Ile239Phe) c.469A>T (p.Ile157Phe) c.*359A>T (n.*359A>T) c.811A>T (p.Ile271Phe) c.736A>T (p.Ile246Phe) | gnomAD v4 |
| 2 | g.174753566T>C | CA349339117 | CHRNA1 | c.226A>G (p.Ile76Val) c.790A>G (p.Ile264Val) c.715A>G (p.Ile239Val) c.469A>G (p.Ile157Val) c.*359A>G (n.*359A>G) c.811A>G (p.Ile271Val) c.736A>G (p.Ile246Val) | |
| 2 | g.174753566T>G | CA349339112 | CHRNA1 | c.226A>C (p.Ile76Leu) c.790A>C (p.Ile264Leu) c.715A>C (p.Ile239Leu) c.469A>C (p.Ile157Leu) c.*359A>C (n.*359A>C) c.811A>C (p.Ile271Leu) c.736A>C (p.Ile246Leu) | |
| 2 | g.174753567G>A | CA1974488 | CHRNA1 | c.225C>T (p.Val75=) c.789C>T (p.Val263=) c.714C>T (p.Val238=) c.468C>T (p.Val156=) c.*358C>T (n.*358C>T) c.810C>T (p.Val270=) c.735C>T (p.Val245=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174753567G>C | CA430022760 | CHRNA1 | c.225C>G (p.Val75=) c.789C>G (p.Val263=) c.714C>G (p.Val238=) c.468C>G (p.Val156=) c.*358C>G (n.*358C>G) c.810C>G (p.Val270=) c.735C>G (p.Val245=) | |
| 2 | g.174753567G= | CA1308834051 | CHRNA1 | c.225C= (p.Val75=) c.789C= (p.Val263=) c.714C= (p.Val238=) c.468C= (p.Val156=) c.*358C= (n.*358C=) c.810C= (p.Val270=) c.735C= (p.Val245=) | |
| 2 | g.174753567G>T | CA430022762 | CHRNA1 | c.225C>A (p.Val75=) c.789C>A (p.Val263=) c.714C>A (p.Val238=) c.468C>A (p.Val156=) c.*358C>A (n.*358C>A) c.810C>A (p.Val270=) c.735C>A (p.Val245=) | |
| 2 | g.174753568A>C | CA349339124 | CHRNA1 | c.224T>G (p.Val75Gly) c.788T>G (p.Val263Gly) c.713T>G (p.Val238Gly) c.467T>G (p.Val156Gly) c.*357T>G (n.*357T>G) c.809T>G (p.Val270Gly) c.734T>G (p.Val245Gly) | |
| 2 | g.174753568A>G | CA349339126 | CHRNA1 | c.224T>C (p.Val75Ala) c.788T>C (p.Val263Ala) c.713T>C (p.Val238Ala) c.467T>C (p.Val156Ala) c.*357T>C (n.*357T>C) c.809T>C (p.Val270Ala) c.734T>C (p.Val245Ala) | |
| 2 | g.174753568A>T | CA349339127 | CHRNA1 | c.224T>A (p.Val75Asp) c.788T>A (p.Val263Asp) c.713T>A (p.Val238Asp) c.467T>A (p.Val156Asp) c.*357T>A (n.*357T>A) c.809T>A (p.Val270Asp) c.734T>A (p.Val245Asp) | |
| 2 | g.174753569C>A | CA349339129 | CHRNA1 | c.223G>T (p.Val75Phe) c.787G>T (p.Val263Phe) c.712G>T (p.Val238Phe) c.466G>T (p.Val156Phe) c.*356G>T (n.*356G>T) c.808G>T (p.Val270Phe) c.733G>T (p.Val245Phe) | |
| 2 | g.174753569C= | CA1308834052 | CHRNA1 | c.223G= (p.Val75=) c.787G= (p.Val263=) c.712G= (p.Val238=) c.466G= (p.Val156=) c.*356G= (n.*356G=) c.808G= (p.Val270=) c.733G= (p.Val245=) | |
| 2 | g.174753569C>G | CA349339133 | CHRNA1 | c.223G>C (p.Val75Leu) c.787G>C (p.Val263Leu) c.712G>C (p.Val238Leu) c.466G>C (p.Val156Leu) c.*356G>C (n.*356G>C) c.808G>C (p.Val270Leu) c.733G>C (p.Val245Leu) | |
| 2 | g.174753569C>T | CA349339146 | CHRNA1 | c.223G>A (p.Val75Ile) c.787G>A (p.Val263Ile) c.712G>A (p.Val238Ile) c.466G>A (p.Val156Ile) c.*356G>A (n.*356G>A) c.808G>A (p.Val270Ile) c.733G>A (p.Val245Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174753570G>A | CA1974489 | CHRNA1 | c.222C>T (p.Asn74=) c.786C>T (p.Asn262=) c.711C>T (p.Asn237=) c.465C>T (p.Asn155=) c.*355C>T (n.*355C>T) c.807C>T (p.Asn269=) c.732C>T (p.Asn244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174753570G>C | CA258177 | CHRNA1 | c.222C>G (p.Asn74Lys) c.786C>G (p.Asn262Lys) c.711C>G (p.Asn237Lys) c.465C>G (p.Asn155Lys) c.*355C>G (n.*355C>G) c.807C>G (p.Asn269Lys) c.732C>G (p.Asn244Lys) | ClinVar dbSNP |
| 2 | g.174753570G= | CA1308834053 | CHRNA1 | c.222C= (p.Asn74=) c.786C= (p.Asn262=) c.711C= (p.Asn237=) c.465C= (p.Asn155=) c.*355C= (n.*355C=) c.807C= (p.Asn269=) c.732C= (p.Asn244=) | |
| 2 | g.174753570G>T | CA349339147 | CHRNA1 | c.222C>A (p.Asn74Lys) c.786C>A (p.Asn262Lys) c.711C>A (p.Asn237Lys) c.465C>A (p.Asn155Lys) c.*355C>A (n.*355C>A) c.807C>A (p.Asn269Lys) c.732C>A (p.Asn244Lys) | ClinVar dbSNP |
| 2 | g.174753571T>A | CA349339152 | CHRNA1 | c.221A>T (p.Asn74Ile) c.785A>T (p.Asn262Ile) c.710A>T (p.Asn237Ile) c.464A>T (p.Asn155Ile) c.*354A>T (n.*354A>T) c.806A>T (p.Asn269Ile) c.731A>T (p.Asn244Ile) | ClinVar dbSNP |
| 2 | g.174753571T>C | CA349339153 | CHRNA1 | c.221A>G (p.Asn74Ser) c.785A>G (p.Asn262Ser) c.710A>G (p.Asn237Ser) c.464A>G (p.Asn155Ser) c.*354A>G (n.*354A>G) c.806A>G (p.Asn269Ser) c.731A>G (p.Asn244Ser) | ClinVar gnomAD v4 |
| 2 | g.174753571T>G | CA349339151 | CHRNA1 | c.221A>C (p.Asn74Thr) c.785A>C (p.Asn262Thr) c.710A>C (p.Asn237Thr) c.464A>C (p.Asn155Thr) c.*354A>C (n.*354A>C) c.806A>C (p.Asn269Thr) c.731A>C (p.Asn244Thr) | gnomAD v4 |
| 2 | g.174753571T= | CA1308834054 | CHRNA1 | c.221A= (p.Asn74=) c.785A= (p.Asn262=) c.710A= (p.Asn237=) c.464A= (p.Asn155=) c.*354A= (n.*354A=) c.806A= (p.Asn269=) c.731A= (p.Asn244=) | |
| 2 | g.174753572T>A | CA349339154 | CHRNA1 | c.220A>T (p.Asn74Tyr) c.784A>T (p.Asn262Tyr) c.709A>T (p.Asn237Tyr) c.463A>T (p.Asn155Tyr) c.*353A>T (n.*353A>T) c.805A>T (p.Asn269Tyr) c.730A>T (p.Asn244Tyr) | |
| 2 | g.174753572T>C | CA349339157 | CHRNA1 | c.220A>G (p.Asn74Asp) c.784A>G (p.Asn262Asp) c.709A>G (p.Asn237Asp) c.463A>G (p.Asn155Asp) c.*353A>G (n.*353A>G) c.805A>G (p.Asn269Asp) c.730A>G (p.Asn244Asp) | |
| 2 | g.174753572T>G | CA349339166 | CHRNA1 | c.220A>C (p.Asn74His) c.784A>C (p.Asn262His) c.709A>C (p.Asn237His) c.463A>C (p.Asn155His) c.*353A>C (n.*353A>C) c.805A>C (p.Asn269His) c.730A>C (p.Asn244His) | |
| 2 | g.174753573G>A | CA60851978 | CHRNA1 | c.219C>T (p.Val73=) c.783C>T (p.Val261=) c.708C>T (p.Val236=) c.462C>T (p.Val154=) c.*352C>T (n.*352C>T) c.804C>T (p.Val268=) c.729C>T (p.Val243=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174753573G>C | CA430022765 | CHRNA1 | c.219C>G (p.Val73=) c.783C>G (p.Val261=) c.708C>G (p.Val236=) c.462C>G (p.Val154=) c.*352C>G (n.*352C>G) c.804C>G (p.Val268=) c.729C>G (p.Val243=) | |
| 2 | g.174753573G= | CA1308834055 | CHRNA1 | c.219C= (p.Val73=) c.783C= (p.Val261=) c.708C= (p.Val236=) c.462C= (p.Val154=) c.*352C= (n.*352C=) c.804C= (p.Val268=) c.729C= (p.Val243=) | |
| 2 | g.174753573G>T | CA430022766 | CHRNA1 | c.219C>A (p.Val73=) c.783C>A (p.Val261=) c.708C>A (p.Val236=) c.462C>A (p.Val154=) c.*352C>A (n.*352C>A) c.804C>A (p.Val268=) c.729C>A (p.Val243=) | |
| 2 | g.174753574_174753593dup | CA2753243578 | CHRNA1 | c.200_219dup (p.Asn74CysfsTer19) c.764_783dup (p.Asn262CysfsTer19) c.689_708dup (p.Asn237CysfsTer19) c.443_462dup (p.Asn155CysfsTer19) c.*333_*352dup (n.*333_*352dup) c.785_804dup (p.Asn269CysfsTer19) c.710_729dup (p.Asn244CysfsTer19) | |
| 2 | g.174753574A= | CA1308834056 | CHRNA1 | c.218T= (p.Val73=) c.782T= (p.Val261=) c.707T= (p.Val236=) c.461T= (p.Val154=) c.*351T= (n.*351T=) c.803T= (p.Val268=) c.728T= (p.Val243=) | |
| 2 | g.174753574A>C | CA349339167 | CHRNA1 | c.218T>G (p.Val73Gly) c.782T>G (p.Val261Gly) c.707T>G (p.Val236Gly) c.461T>G (p.Val154Gly) c.*351T>G (n.*351T>G) c.803T>G (p.Val268Gly) c.728T>G (p.Val243Gly) | |
| 2 | g.174753574A>G | CA349339168 | CHRNA1 | c.218T>C (p.Val73Ala) c.782T>C (p.Val261Ala) c.707T>C (p.Val236Ala) c.461T>C (p.Val154Ala) c.*351T>C (n.*351T>C) c.803T>C (p.Val268Ala) c.728T>C (p.Val243Ala) | dbSNP |
| 2 | g.174753574A>T | CA349339169 | CHRNA1 | c.218T>A (p.Val73Asp) c.782T>A (p.Val261Asp) c.707T>A (p.Val236Asp) c.461T>A (p.Val154Asp) c.*351T>A (n.*351T>A) c.803T>A (p.Val268Asp) c.728T>A (p.Val243Asp) | |
| 2 | g.174753575C>A | CA349339171 | CHRNA1 | c.217G>T (p.Val73Phe) c.781G>T (p.Val261Phe) c.706G>T (p.Val236Phe) c.460G>T (p.Val154Phe) c.*350G>T (n.*350G>T) c.802G>T (p.Val268Phe) c.727G>T (p.Val243Phe) | |
| 2 | g.174753575C= | CA1308834058 | CHRNA1 | c.217G= (p.Val73=) c.781G= (p.Val261=) c.706G= (p.Val236=) c.460G= (p.Val154=) c.*350G= (n.*350G=) c.802G= (p.Val268=) c.727G= (p.Val243=) | |
| 2 | g.174753575C>G | CA349339172 | CHRNA1 | c.217G>C (p.Val73Leu) c.781G>C (p.Val261Leu) c.706G>C (p.Val236Leu) c.460G>C (p.Val154Leu) c.*350G>C (n.*350G>C) c.802G>C (p.Val268Leu) c.727G>C (p.Val243Leu) | |
| 2 | g.174753575C>T | CA349339177 | CHRNA1 | c.217G>A (p.Val73Ile) c.781G>A (p.Val261Ile) c.706G>A (p.Val236Ile) c.460G>A (p.Val154Ile) c.*350G>A (n.*350G>A) c.802G>A (p.Val268Ile) c.727G>A (p.Val243Ile) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174753580_174753581insTGCGTATCCCGATGA | CA1308834057 | CHRNA1 | c.217_218insGGATACGCATCATCG (p.Ile72_Val73insGlyIleArgIleIle) c.781_782insGGATACGCATCATCG (p.Ile260_Val261insGlyIleArgIleIle) c.706_707insGGATACGCATCATCG (p.Ile235_Val236insGlyIleArgIleIle) c.460_461insGGATACGCATCATCG (p.Ile153_Val154insGlyIleArgIleIle) c.*350_*351insGGATACGCATCATCG (n.*350_*351insGGATACGCATCATCG) c.802_803insGGATACGCATCATCG (p.Ile267_Val268insGlyIleArgIleIle) c.727_728insGGATACGCATCATCG (p.Ile242_Val243insGlyIleArgIleIle) | dbSNP |
| 2 | g.174753576G>A | CA1974491 | CHRNA1 | c.216C>T (p.Ile72=) c.780C>T (p.Ile260=) c.705C>T (p.Ile235=) c.459C>T (p.Ile153=) c.*349C>T (n.*349C>T) c.801C>T (p.Ile267=) c.726C>T (p.Ile242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753576G>C | CA349339185 | CHRNA1 | c.216C>G (p.Ile72Met) c.780C>G (p.Ile260Met) c.705C>G (p.Ile235Met) c.459C>G (p.Ile153Met) c.*349C>G (n.*349C>G) c.801C>G (p.Ile267Met) c.726C>G (p.Ile242Met) | |
| 2 | g.174753576G= | CA1308834059 | CHRNA1 | c.216C= (p.Ile72=) c.780C= (p.Ile260=) c.705C= (p.Ile235=) c.459C= (p.Ile153=) c.*349C= (n.*349C=) c.801C= (p.Ile267=) c.726C= (p.Ile242=) | |
| 2 | g.174753576G>T | CA1974490 | CHRNA1 | c.216C>A (p.Ile72=) c.780C>A (p.Ile260=) c.705C>A (p.Ile235=) c.459C>A (p.Ile153=) c.*349C>A (n.*349C>A) c.801C>A (p.Ile267=) c.726C>A (p.Ile242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753577A>C | CA349339193 | CHRNA1 | c.215T>G (p.Ile72Ser) c.779T>G (p.Ile260Ser) c.704T>G (p.Ile235Ser) c.458T>G (p.Ile153Ser) c.*348T>G (n.*348T>G) c.800T>G (p.Ile267Ser) c.725T>G (p.Ile242Ser) | |
| 2 | g.174753577A>G | CA349339190 | CHRNA1 | c.215T>C (p.Ile72Thr) c.779T>C (p.Ile260Thr) c.704T>C (p.Ile235Thr) c.458T>C (p.Ile153Thr) c.*348T>C (n.*348T>C) c.800T>C (p.Ile267Thr) c.725T>C (p.Ile242Thr) | |
| 2 | g.174753577A>T | CA349339187 | CHRNA1 | c.215T>A (p.Ile72Asn) c.779T>A (p.Ile260Asn) c.704T>A (p.Ile235Asn) c.458T>A (p.Ile153Asn) c.*348T>A (n.*348T>A) c.800T>A (p.Ile267Asn) c.725T>A (p.Ile242Asn) | |
| 2 | g.174753578T>A | CA349339196 | CHRNA1 | c.214A>T (p.Ile72Phe) c.778A>T (p.Ile260Phe) c.703A>T (p.Ile235Phe) c.457A>T (p.Ile153Phe) c.*347A>T (n.*347A>T) c.799A>T (p.Ile267Phe) c.724A>T (p.Ile242Phe) | |
| 2 | g.174753578T>C | CA349339201 | CHRNA1 | c.214A>G (p.Ile72Val) c.778A>G (p.Ile260Val) c.703A>G (p.Ile235Val) c.457A>G (p.Ile153Val) c.*347A>G (n.*347A>G) c.799A>G (p.Ile267Val) c.724A>G (p.Ile242Val) | |
| 2 | g.174753578T>G | CA349339209 | CHRNA1 | c.214A>C (p.Ile72Leu) c.778A>C (p.Ile260Leu) c.703A>C (p.Ile235Leu) c.457A>C (p.Ile153Leu) c.*347A>C (n.*347A>C) c.799A>C (p.Ile267Leu) c.724A>C (p.Ile242Leu) | |
| 2 | g.174753579G>A | CA430022768 | CHRNA1 | c.213C>T (p.Phe71=) c.777C>T (p.Phe259=) c.702C>T (p.Phe234=) c.456C>T (p.Phe152=) c.*346C>T (n.*346C>T) c.798C>T (p.Phe266=) c.723C>T (p.Phe241=) | |
| 2 | g.174753579G>C | CA349339213 | CHRNA1 | c.213C>G (p.Phe71Leu) c.777C>G (p.Phe259Leu) c.702C>G (p.Phe234Leu) c.456C>G (p.Phe152Leu) c.*346C>G (n.*346C>G) c.798C>G (p.Phe266Leu) c.723C>G (p.Phe241Leu) | |
| 2 | g.174753579G>T | CA349339216 | CHRNA1 | c.213C>A (p.Phe71Leu) c.777C>A (p.Phe259Leu) c.702C>A (p.Phe234Leu) c.456C>A (p.Phe152Leu) c.*346C>A (n.*346C>A) c.798C>A (p.Phe266Leu) c.723C>A (p.Phe241Leu) | |
| 2 | g.174753580A>C | CA349339221 | CHRNA1 | c.212T>G (p.Phe71Cys) c.776T>G (p.Phe259Cys) c.701T>G (p.Phe234Cys) c.455T>G (p.Phe152Cys) c.*345T>G (n.*345T>G) c.797T>G (p.Phe266Cys) c.722T>G (p.Phe241Cys) | |
| 2 | g.174753580A>G | CA349339224 | CHRNA1 | c.212T>C (p.Phe71Ser) c.776T>C (p.Phe259Ser) c.701T>C (p.Phe234Ser) c.455T>C (p.Phe152Ser) c.*345T>C (n.*345T>C) c.797T>C (p.Phe266Ser) c.722T>C (p.Phe241Ser) | |
| 2 | g.174753580A>T | CA349339226 | CHRNA1 | c.212T>A (p.Phe71Tyr) c.776T>A (p.Phe259Tyr) c.701T>A (p.Phe234Tyr) c.455T>A (p.Phe152Tyr) c.*345T>A (n.*345T>A) c.797T>A (p.Phe266Tyr) c.722T>A (p.Phe241Tyr) | |
| 2 | g.174753581A>C | CA349339228 | CHRNA1 | c.211T>G (p.Phe71Val) c.775T>G (p.Phe259Val) c.700T>G (p.Phe234Val) c.454T>G (p.Phe152Val) c.*344T>G (n.*344T>G) c.796T>G (p.Phe266Val) c.721T>G (p.Phe241Val) | |
| 2 | g.174753581A>G | CA349339231 | CHRNA1 | c.211T>C (p.Phe71Leu) c.775T>C (p.Phe259Leu) c.700T>C (p.Phe234Leu) c.454T>C (p.Phe152Leu) c.*344T>C (n.*344T>C) c.796T>C (p.Phe266Leu) c.721T>C (p.Phe241Leu) | |
| 2 | g.174753581A>T | CA349339237 | CHRNA1 | c.211T>A (p.Phe71Ile) c.775T>A (p.Phe259Ile) c.700T>A (p.Phe234Ile) c.454T>A (p.Phe152Ile) c.*344T>A (n.*344T>A) c.796T>A (p.Phe266Ile) c.721T>A (p.Phe241Ile) | |
| 2 | g.174753582G>A | CA430022772 | CHRNA1 | c.210C>T (p.Tyr70=) c.774C>T (p.Tyr258=) c.699C>T (p.Tyr233=) c.453C>T (p.Tyr151=) c.*343C>T (n.*343C>T) c.795C>T (p.Tyr265=) c.720C>T (p.Tyr240=) | COSMIC |
| 2 | g.174753582G>C | CA349339239 | CHRNA1 | c.210C>G (p.Tyr70Ter) c.774C>G (p.Tyr258Ter) c.699C>G (p.Tyr233Ter) c.453C>G (p.Tyr151Ter) c.*343C>G (n.*343C>G) c.795C>G (p.Tyr265Ter) c.720C>G (p.Tyr240Ter) | |
| 2 | g.174753582G>T | CA349339241 | CHRNA1 | c.210C>A (p.Tyr70Ter) c.774C>A (p.Tyr258Ter) c.699C>A (p.Tyr233Ter) c.453C>A (p.Tyr151Ter) c.*343C>A (n.*343C>A) c.795C>A (p.Tyr265Ter) c.720C>A (p.Tyr240Ter) | |
| 2 | g.174753583T>A | CA349339250 | CHRNA1 | c.209A>T (p.Tyr70Phe) c.773A>T (p.Tyr258Phe) c.698A>T (p.Tyr233Phe) c.452A>T (p.Tyr151Phe) c.*342A>T (n.*342A>T) c.794A>T (p.Tyr265Phe) c.719A>T (p.Tyr240Phe) | |
| 2 | g.174753583T>C | CA349339243 | CHRNA1 | c.209A>G (p.Tyr70Cys) c.773A>G (p.Tyr258Cys) c.698A>G (p.Tyr233Cys) c.452A>G (p.Tyr151Cys) c.*342A>G (n.*342A>G) c.794A>G (p.Tyr265Cys) c.719A>G (p.Tyr240Cys) | |
| 2 | g.174753583T>G | CA349339246 | CHRNA1 | c.209A>C (p.Tyr70Ser) c.773A>C (p.Tyr258Ser) c.698A>C (p.Tyr233Ser) c.452A>C (p.Tyr151Ser) c.*342A>C (n.*342A>C) c.794A>C (p.Tyr265Ser) c.719A>C (p.Tyr240Ser) | |
| 2 | g.174753584A>C | CA349339255 | CHRNA1 | c.208T>G (p.Tyr70Asp) c.772T>G (p.Tyr258Asp) c.697T>G (p.Tyr233Asp) c.451T>G (p.Tyr151Asp) c.*341T>G (n.*341T>G) c.793T>G (p.Tyr265Asp) c.718T>G (p.Tyr240Asp) | |
| 2 | g.174753584A>G | CA349339266 | CHRNA1 | c.208T>C (p.Tyr70His) c.772T>C (p.Tyr258His) c.697T>C (p.Tyr233His) c.451T>C (p.Tyr151His) c.*341T>C (n.*341T>C) c.793T>C (p.Tyr265His) c.718T>C (p.Tyr240His) | |
| 2 | g.174753584A>T | CA349339261 | CHRNA1 | c.208T>A (p.Tyr70Asn) c.772T>A (p.Tyr258Asn) c.697T>A (p.Tyr233Asn) c.451T>A (p.Tyr151Asn) c.*341T>A (n.*341T>A) c.793T>A (p.Tyr265Asn) c.718T>A (p.Tyr240Asn) | |
| 2 | g.174753585G>A | CA430022777 | CHRNA1 | c.207C>T (p.Leu69=) c.771C>T (p.Leu257=) c.696C>T (p.Leu232=) c.450C>T (p.Leu150=) c.*340C>T (n.*340C>T) c.792C>T (p.Leu264=) c.717C>T (p.Leu239=) | |
| 2 | g.174753585G>C | CA430022776 | CHRNA1 | c.207C>G (p.Leu69=) c.771C>G (p.Leu257=) c.696C>G (p.Leu232=) c.450C>G (p.Leu150=) c.*340C>G (n.*340C>G) c.792C>G (p.Leu264=) c.717C>G (p.Leu239=) | dbSNP |
| 2 | g.174753585G= | CA1308834060 | CHRNA1 | c.207C= (p.Leu69=) c.771C= (p.Leu257=) c.696C= (p.Leu232=) c.450C= (p.Leu150=) c.*340C= (n.*340C=) c.792C= (p.Leu264=) c.717C= (p.Leu239=) | |
| 2 | g.174753585G>T | CA430022778 | CHRNA1 | c.207C>A (p.Leu69=) c.771C>A (p.Leu257=) c.696C>A (p.Leu232=) c.450C>A (p.Leu150=) c.*340C>A (n.*340C>A) c.792C>A (p.Leu264=) c.717C>A (p.Leu239=) | dbSNP |
| 2 | g.174753586A>C | CA349339270 | CHRNA1 | c.206T>G (p.Leu69Arg) c.770T>G (p.Leu257Arg) c.695T>G (p.Leu232Arg) c.449T>G (p.Leu150Arg) c.*339T>G (n.*339T>G) c.791T>G (p.Leu264Arg) c.716T>G (p.Leu239Arg) | |
| 2 | g.174753586A>G | CA349339281 | CHRNA1 | c.206T>C (p.Leu69Pro) c.770T>C (p.Leu257Pro) c.695T>C (p.Leu232Pro) c.449T>C (p.Leu150Pro) c.*339T>C (n.*339T>C) c.791T>C (p.Leu264Pro) c.716T>C (p.Leu239Pro) | |
| 2 | g.174753586A>T | CA349339277 | CHRNA1 | c.206T>A (p.Leu69His) c.770T>A (p.Leu257His) c.695T>A (p.Leu232His) c.449T>A (p.Leu150His) c.*339T>A (n.*339T>A) c.791T>A (p.Leu264His) c.716T>A (p.Leu239His) | |
| 2 | g.174753587G>A | CA349339282 | CHRNA1 | c.205C>T (p.Leu69Phe) c.769C>T (p.Leu257Phe) c.694C>T (p.Leu232Phe) c.448C>T (p.Leu150Phe) c.*338C>T (n.*338C>T) c.790C>T (p.Leu264Phe) c.715C>T (p.Leu239Phe) | dbSNP |
| 2 | g.174753587G>C | CA349339285 | CHRNA1 | c.205C>G (p.Leu69Val) c.769C>G (p.Leu257Val) c.694C>G (p.Leu232Val) c.448C>G (p.Leu150Val) c.*338C>G (n.*338C>G) c.790C>G (p.Leu264Val) c.715C>G (p.Leu239Val) | |
| 2 | g.174753587G= | CA1308834061 | CHRNA1 | c.205C= (p.Leu69=) c.769C= (p.Leu257=) c.694C= (p.Leu232=) c.448C= (p.Leu150=) c.*338C= (n.*338C=) c.790C= (p.Leu264=) c.715C= (p.Leu239=) | |
| 2 | g.174753587G>T | CA349339289 | CHRNA1 | c.205C>A (p.Leu69Ile) c.769C>A (p.Leu257Ile) c.694C>A (p.Leu232Ile) c.448C>A (p.Leu150Ile) c.*338C>A (n.*338C>A) c.790C>A (p.Leu264Ile) c.715C>A (p.Leu239Ile) | |
| 2 | g.174753588G>A | CA430022780 | CHRNA1 | c.204C>T (p.Pro68=) c.768C>T (p.Pro256=) c.693C>T (p.Pro231=) c.447C>T (p.Pro149=) c.*337C>T (n.*337C>T) c.789C>T (p.Pro263=) c.714C>T (p.Pro238=) | |
| 2 | g.174753588G>C | CA430022781 | CHRNA1 | c.204C>G (p.Pro68=) c.768C>G (p.Pro256=) c.693C>G (p.Pro231=) c.447C>G (p.Pro149=) c.*337C>G (n.*337C>G) c.789C>G (p.Pro263=) c.714C>G (p.Pro238=) | |
| 2 | g.174753588G>T | CA430022782 | CHRNA1 | c.204C>A (p.Pro68=) c.768C>A (p.Pro256=) c.693C>A (p.Pro231=) c.447C>A (p.Pro149=) c.*337C>A (n.*337C>A) c.789C>A (p.Pro263=) c.714C>A (p.Pro238=) | |
| 2 | g.174753589G>A | CA60851986 | CHRNA1 | c.203C>T (p.Pro68Leu) c.767C>T (p.Pro256Leu) c.692C>T (p.Pro231Leu) c.446C>T (p.Pro149Leu) c.*336C>T (n.*336C>T) c.788C>T (p.Pro263Leu) c.713C>T (p.Pro238Leu) | dbSNP |
| 2 | g.174753589G>C | CA349339292 | CHRNA1 | c.203C>G (p.Pro68Arg) c.767C>G (p.Pro256Arg) c.692C>G (p.Pro231Arg) c.446C>G (p.Pro149Arg) c.*336C>G (n.*336C>G) c.788C>G (p.Pro263Arg) c.713C>G (p.Pro238Arg) | |
| 2 | g.174753589G= | CA1308834062 | CHRNA1 | c.203C= (p.Pro68=) c.767C= (p.Pro256=) c.692C= (p.Pro231=) c.446C= (p.Pro149=) c.*336C= (n.*336C=) c.788C= (p.Pro263=) c.713C= (p.Pro238=) | |
| 2 | g.174753589G>T | CA349339293 | CHRNA1 | c.203C>A (p.Pro68His) c.767C>A (p.Pro256His) c.692C>A (p.Pro231His) c.446C>A (p.Pro149His) c.*336C>A (n.*336C>A) c.788C>A (p.Pro263His) c.713C>A (p.Pro238His) | |
| 2 | g.174753590G>A | CA349339294 | CHRNA1 | c.202C>T (p.Pro68Ser) c.766C>T (p.Pro256Ser) c.691C>T (p.Pro231Ser) c.445C>T (p.Pro149Ser) c.*335C>T (n.*335C>T) c.787C>T (p.Pro263Ser) c.712C>T (p.Pro238Ser) | |
| 2 | g.174753590G>C | CA349339322 | CHRNA1 | c.202C>G (p.Pro68Ala) c.766C>G (p.Pro256Ala) c.691C>G (p.Pro231Ala) c.445C>G (p.Pro149Ala) c.*335C>G (n.*335C>G) c.787C>G (p.Pro263Ala) c.712C>G (p.Pro238Ala) | |
| 2 | g.174753590G>T | CA349339325 | CHRNA1 | c.202C>A (p.Pro68Thr) c.766C>A (p.Pro256Thr) c.691C>A (p.Pro231Thr) c.445C>A (p.Pro149Thr) c.*335C>A (n.*335C>A) c.787C>A (p.Pro263Thr) c.712C>A (p.Pro238Thr) | |
| 2 | g.174753591C>A | CA430022785 | CHRNA1 | c.201G>T (p.Leu67=) c.765G>T (p.Leu255=) c.690G>T (p.Leu230=) c.444G>T (p.Leu148=) c.*334G>T (n.*334G>T) c.786G>T (p.Leu262=) c.711G>T (p.Leu237=) | |
| 2 | g.174753591C>G | CA430022786 | CHRNA1 | c.201G>C (p.Leu67=) c.765G>C (p.Leu255=) c.690G>C (p.Leu230=) c.444G>C (p.Leu148=) c.*334G>C (n.*334G>C) c.786G>C (p.Leu262=) c.711G>C (p.Leu237=) | |
| 2 | g.174753591C>T | CA430022787 | CHRNA1 | c.201G>A (p.Leu67=) c.765G>A (p.Leu255=) c.690G>A (p.Leu230=) c.444G>A (p.Leu148=) c.*334G>A (n.*334G>A) c.786G>A (p.Leu262=) c.711G>A (p.Leu237=) | |
| 2 | g.174753592A>C | CA349339331 | CHRNA1 | c.200T>G (p.Leu67Arg) c.764T>G (p.Leu255Arg) c.689T>G (p.Leu230Arg) c.443T>G (p.Leu148Arg) c.*333T>G (n.*333T>G) c.785T>G (p.Leu262Arg) c.710T>G (p.Leu237Arg) | |
| 2 | g.174753592A>G | CA349339337 | CHRNA1 | c.200T>C (p.Leu67Pro) c.764T>C (p.Leu255Pro) c.689T>C (p.Leu230Pro) c.443T>C (p.Leu148Pro) c.*333T>C (n.*333T>C) c.785T>C (p.Leu262Pro) c.710T>C (p.Leu237Pro) | |
| 2 | g.174753592A>T | CA349339339 | CHRNA1 | c.200T>A (p.Leu67Gln) c.764T>A (p.Leu255Gln) c.689T>A (p.Leu230Gln) c.443T>A (p.Leu148Gln) c.*333T>A (n.*333T>A) c.785T>A (p.Leu262Gln) c.710T>A (p.Leu237Gln) | |
| 2 | g.174753593G>A | CA430022790 | CHRNA1 | c.199C>T (p.Leu67=) c.763C>T (p.Leu255=) c.688C>T (p.Leu230=) c.442C>T (p.Leu148=) c.*332C>T (n.*332C>T) c.784C>T (p.Leu262=) c.709C>T (p.Leu237=) | |
| 2 | g.174753593G>C | CA349339343 | CHRNA1 | c.199C>G (p.Leu67Val) c.763C>G (p.Leu255Val) c.688C>G (p.Leu230Val) c.442C>G (p.Leu148Val) c.*332C>G (n.*332C>G) c.784C>G (p.Leu262Val) c.709C>G (p.Leu237Val) | |
| 2 | g.174753593G>T | CA349339341 | CHRNA1 | c.199C>A (p.Leu67Met) c.763C>A (p.Leu255Met) c.688C>A (p.Leu230Met) c.442C>A (p.Leu148Met) c.*332C>A (n.*332C>A) c.784C>A (p.Leu262Met) c.709C>A (p.Leu237Met) | |
| 2 | g.174753594G>A | CA199695 | CHRNA1 | c.198C>T (p.Arg66=) c.762C>T (p.Arg254=) c.687C>T (p.Arg229=) c.441C>T (p.Arg147=) c.*331C>T (n.*331C>T) c.783C>T (p.Arg261=) c.708C>T (p.Arg236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753594G>C | CA430022792 | CHRNA1 | c.198C>G (p.Arg66=) c.762C>G (p.Arg254=) c.687C>G (p.Arg229=) c.441C>G (p.Arg147=) c.*331C>G (n.*331C>G) c.783C>G (p.Arg261=) c.708C>G (p.Arg236=) | |
| 2 | g.174753594G= | CA1308834063 | CHRNA1 | c.198C= (p.Arg66=) c.762C= (p.Arg254=) c.687C= (p.Arg229=) c.441C= (p.Arg147=) c.*331C= (n.*331C=) c.783C= (p.Arg261=) c.708C= (p.Arg236=) | |
| 2 | g.174753594G>T | CA430022793 | CHRNA1 | c.198C>A (p.Arg66=) c.762C>A (p.Arg254=) c.687C>A (p.Arg229=) c.441C>A (p.Arg147=) c.*331C>A (n.*331C>A) c.783C>A (p.Arg261=) c.708C>A (p.Arg236=) | dbSNP |