| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4932960C>A | CA397316103 | CHRNE,GP1BA | c.356C>A (p.Thr119Asn) c.-888+1382G>T (n.-888+1382G>T) | gnomAD v4 |
| 17 | g.4932960C>G | CA397316105 | CHRNE,GP1BA | c.356C>G (p.Thr119Ser) c.-888+1382G>C (n.-888+1382G>C) | |
| 17 | g.4932960C>T | CA397316108 | CHRNE,GP1BA | c.356C>T (p.Thr119Ile) c.-888+1382G>A (n.-888+1382G>A) | |
| 17 | g.4932961C>A | CA497677238 | CHRNE,GP1BA | c.357C>A (p.Thr119=) c.-888+1381G>T (n.-888+1381G>T) | |
| 17 | g.4932961C= | CA2244625377 | CHRNE,GP1BA | c.357C= (p.Thr119=) c.-888+1381G= (n.-888+1381G=) | |
| 17 | g.4932961C>G | CA497677239 | CHRNE,GP1BA | c.357C>G (p.Thr119=) c.-888+1381G>C (n.-888+1381G>C) | |
| 17 | g.4932961C>T | CA8314753 | CHRNE,GP1BA | c.357C>T (p.Thr119=) c.-888+1381G>A (n.-888+1381G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932962G>A | CA8314754 | CHRNE,GP1BA | c.358G>A (p.Val120Ile) c.-888+1380C>T (n.-888+1380C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932962G>C | CA397316113 | CHRNE,GP1BA | c.358G>C (p.Val120Leu) c.-888+1380C>G (n.-888+1380C>G) | |
| 17 | g.4932962G= | CA2244625378 | CHRNE,GP1BA | c.358G= (p.Val120=) c.-888+1380C= (n.-888+1380C=) | |
| 17 | g.4932962G>T | CA397316114 | CHRNE,GP1BA | c.358G>T (p.Val120Phe) c.-888+1380C>A (n.-888+1380C>A) | |
| 17 | g.4932963T>A | CA397316116 | CHRNE,GP1BA | c.359T>A (p.Val120Asp) c.-888+1379A>T (n.-888+1379A>T) | |
| 17 | g.4932963T>C | CA397316117 | CHRNE,GP1BA | c.359T>C (p.Val120Ala) c.-888+1379A>G (n.-888+1379A>G) | |
| 17 | g.4932963T>G | CA397316115 | CHRNE,GP1BA | c.359T>G (p.Val120Gly) c.-888+1379A>C (n.-888+1379A>C) | |
| 17 | g.4932964C>A | CA497677242 | CHRNE,GP1BA | c.360C>A (p.Val120=) c.-888+1378G>T (n.-888+1378G>T) | gnomAD v4 |
| 17 | g.4932964C= | CA2244625379 | CHRNE,GP1BA | c.360C= (p.Val120=) c.-888+1378G= (n.-888+1378G=) | |
| 17 | g.4932964C>G | CA497677243 | CHRNE,GP1BA | c.360C>G (p.Val120=) c.-888+1378G>C (n.-888+1378G>C) | |
| 17 | g.4932964C>T | CA8314755 | CHRNE,GP1BA | c.360C>T (p.Val120=) c.-888+1378G>A (n.-888+1378G>A) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932965C>A | CA397316120 | CHRNE,GP1BA | c.361C>A (p.Leu121Met) c.-888+1377G>T (n.-888+1377G>T) | COSMIC |
| 17 | g.4932965C>G | CA397316122 | CHRNE,GP1BA | c.361C>G (p.Leu121Val) c.-888+1377G>C (n.-888+1377G>C) | |
| 17 | g.4932965C>T | CA497677245 | CHRNE,GP1BA | c.361C>T (p.Leu121=) c.-888+1377G>A (n.-888+1377G>A) | gnomAD v3 gnomAD v4 |
| 17 | g.4932966T>A | CA397316125 | CHRNE,GP1BA | c.362T>A (p.Leu121Gln) c.-888+1376A>T (n.-888+1376A>T) | |
| 17 | g.4932966T>C | CA397316127 | CHRNE,GP1BA | c.362T>C (p.Leu121Pro) c.-888+1376A>G (n.-888+1376A>G) | |
| 17 | g.4932966T>G | CA397316131 | CHRNE,GP1BA | c.362T>G (p.Leu121Arg) c.-888+1376A>C (n.-888+1376A>C) | |
| 17 | g.4932967G>A | CA497677248 | CHRNE,GP1BA | c.363G>A (p.Leu121=) c.-888+1375C>T (n.-888+1375C>T) | gnomAD v3 gnomAD v4 |
| 17 | g.4932967G>C | CA497677249 | CHRNE,GP1BA | c.363G>C (p.Leu121=) c.-888+1375C>G (n.-888+1375C>G) | dbSNP gnomAD v4 |
| 17 | g.4932967G= | CA2244625380 | CHRNE,GP1BA | c.363G= (p.Leu121=) c.-888+1375C= (n.-888+1375C=) | |
| 17 | g.4932967G>T | CA497677250 | CHRNE,GP1BA | c.363G>T (p.Leu121=) c.-888+1375C>A (n.-888+1375C>A) | |
| 17 | g.4932968G>A | CA397316135 | CHRNE,GP1BA | c.364G>A (p.Asp122Asn) c.-888+1374C>T (n.-888+1374C>T) | |
| 17 | g.4932968G>C | CA397316136 | CHRNE,GP1BA | c.364G>C (p.Asp122His) c.-888+1374C>G (n.-888+1374C>G) | |
| 17 | g.4932968G>T | CA397316140 | CHRNE,GP1BA | c.364G>T (p.Asp122Tyr) c.-888+1374C>A (n.-888+1374C>A) | |
| 17 | g.4932969A= | CA2244625381 | CHRNE,GP1BA | c.365A= (p.Asp122=) c.-888+1373T= (n.-888+1373T=) | |
| 17 | g.4932969A>C | CA8314756 | CHRNE,GP1BA | c.365A>C (p.Asp122Ala) c.-888+1373T>G (n.-888+1373T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932969A>G | CA397316145 | CHRNE,GP1BA | c.365A>G (p.Asp122Gly) c.-888+1373T>C (n.-888+1373T>C) | |
| 17 | g.4932969A>T | CA397316149 | CHRNE,GP1BA | c.365A>T (p.Asp122Val) c.-888+1373T>A (n.-888+1373T>A) | |
| 17 | g.4932970C>A | CA397316155 | CHRNE,GP1BA | c.366C>A (p.Asp122Glu) c.-888+1372G>T (n.-888+1372G>T) | |
| 17 | g.4932970C= | CA2244625382 | CHRNE,GP1BA | c.366C= (p.Asp122=) c.-888+1372G= (n.-888+1372G=) | |
| 17 | g.4932970C>G | CA397316153 | CHRNE,GP1BA | c.366C>G (p.Asp122Glu) c.-888+1372G>C (n.-888+1372G>C) | |
| 17 | g.4932970C>T | CA8314757 | CHRNE,GP1BA | c.366C>T (p.Asp122=) c.-888+1372G>A (n.-888+1372G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932971G>A | CA8314758 | CHRNE,GP1BA | c.367G>A (p.Val123Ile) c.-888+1371C>T (n.-888+1371C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932971G>C | CA397316161 | CHRNE,GP1BA | c.367G>C (p.Val123Leu) c.-888+1371C>G (n.-888+1371C>G) | |
| 17 | g.4932971G= | CA2244625383 | CHRNE,GP1BA | c.367G= (p.Val123=) c.-888+1371C= (n.-888+1371C=) | |
| 17 | g.4932971G>T | CA397316169 | CHRNE,GP1BA | c.367G>T (p.Val123Phe) c.-888+1371C>A (n.-888+1371C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932972T>A | CA397316173 | CHRNE,GP1BA | c.368T>A (p.Val123Asp) c.-888+1370A>T (n.-888+1370A>T) | gnomAD v4 |
| 17 | g.4932972T>C | CA397316175 | CHRNE,GP1BA | c.368T>C (p.Val123Ala) c.-888+1370A>G (n.-888+1370A>G) | |
| 17 | g.4932972T>G | CA397316177 | CHRNE,GP1BA | c.368T>G (p.Val123Gly) c.-888+1370A>C (n.-888+1370A>C) | |
| 17 | g.4932973C>A | CA497677260 | CHRNE,GP1BA | c.369C>A (p.Val123=) c.-888+1369G>T (n.-888+1369G>T) | |
| 17 | g.4932973C>G | CA497677259 | CHRNE,GP1BA | c.369C>G (p.Val123=) c.-888+1369G>C (n.-888+1369G>C) | |
| 17 | g.4932973C>T | CA497677258 | CHRNE,GP1BA | c.369C>T (p.Val123=) c.-888+1369G>A (n.-888+1369G>A) | |
| 17 | g.4932975_4932977del | CA2733116726 | CHRNE,GP1BA | c.371_373del (p.Ser124del) c.-888+1367_-888+1369del (n.-888+1367_-888+1369del) | dbSNP |
| 17 | g.4932974T>A | CA397316179 | CHRNE,GP1BA | c.370T>A (p.Ser124Thr) c.-888+1368A>T (n.-888+1368A>T) | |
| 17 | g.4932974T>C | CA397316180 | CHRNE,GP1BA | c.370T>C (p.Ser124Pro) c.-888+1368A>G (n.-888+1368A>G) | |
| 17 | g.4932974T>G | CA397316182 | CHRNE,GP1BA | c.370T>G (p.Ser124Ala) c.-888+1368A>C (n.-888+1368A>C) | |
| 17 | g.4932975C>A | CA397316184 | CHRNE,GP1BA | c.371C>A (p.Ser124Tyr) c.-888+1367G>T (n.-888+1367G>T) | |
| 17 | g.4932975C= | CA2244625384 | CHRNE,GP1BA | c.371C= (p.Ser124=) c.-888+1367G= (n.-888+1367G=) | |
| 17 | g.4932975C>G | CA397316185 | CHRNE,GP1BA | c.371C>G (p.Ser124Cys) c.-888+1367G>C (n.-888+1367G>C) | |
| 17 | g.4932975C>T | CA397316186 | CHRNE,GP1BA | c.371C>T (p.Ser124Phe) c.-888+1367G>A (n.-888+1367G>A) | dbSNP COSMIC |
| 17 | g.4932976C>A | CA497677265 | CHRNE,GP1BA | c.372C>A (p.Ser124=) c.-888+1366G>T (n.-888+1366G>T) | |
| 17 | g.4932976C= | CA2244625385 | CHRNE,GP1BA | c.372C= (p.Ser124=) c.-888+1366G= (n.-888+1366G=) | |
| 17 | g.4932976C>G | CA497677266 | CHRNE,GP1BA | c.372C>G (p.Ser124=) c.-888+1366G>C (n.-888+1366G>C) | |
| 17 | g.4932976C>T | CA497677267 | CHRNE,GP1BA | c.372C>T (p.Ser124=) c.-888+1366G>A (n.-888+1366G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932977T>A | CA397316188 | CHRNE,GP1BA | c.373T>A (p.Phe125Ile) c.-888+1365A>T (n.-888+1365A>T) | |
| 17 | g.4932977T>C | CA397316190 | CHRNE,GP1BA | c.373T>C (p.Phe125Leu) c.-888+1365A>G (n.-888+1365A>G) | gnomAD v4 |
| 17 | g.4932977T>G | CA397316187 | CHRNE,GP1BA | c.373T>G (p.Phe125Val) c.-888+1365A>C (n.-888+1365A>C) | gnomAD v4 |
| 17 | g.4932978T>A | CA397316192 | CHRNE,GP1BA | c.374T>A (p.Phe125Tyr) c.-888+1364A>T (n.-888+1364A>T) | |
| 17 | g.4932978T>C | CA397316194 | CHRNE,GP1BA | c.374T>C (p.Phe125Ser) c.-888+1364A>G (n.-888+1364A>G) | |
| 17 | g.4932978T>G | CA397316197 | CHRNE,GP1BA | c.374T>G (p.Phe125Cys) c.-888+1364A>C (n.-888+1364A>C) | |
| 17 | g.4932979C>A | CA397316202 | CHRNE,GP1BA | c.375C>A (p.Phe125Leu) c.-888+1363G>T (n.-888+1363G>T) | |
| 17 | g.4932979C>G | CA397316204 | CHRNE,GP1BA | c.375C>G (p.Phe125Leu) c.-888+1363G>C (n.-888+1363G>C) | |
| 17 | g.4932979C>T | CA497677275 | CHRNE,GP1BA | c.375C>T (p.Phe125=) c.-888+1363G>A (n.-888+1363G>A) | |
| 17 | g.4932980A>C | CA397316206 | CHRNE,GP1BA | c.376A>C (p.Asn126His) c.-888+1362T>G (n.-888+1362T>G) | |
| 17 | g.4932980A>G | CA397316208 | CHRNE,GP1BA | c.376A>G (p.Asn126Asp) c.-888+1362T>C (n.-888+1362T>C) | gnomAD v4 |
| 17 | g.4932980A>T | CA397316211 | CHRNE,GP1BA | c.376A>T (p.Asn126Tyr) c.-888+1362T>A (n.-888+1362T>A) | |
| 17 | g.4932981A>C | CA397316212 | CHRNE,GP1BA | c.377A>C (p.Asn126Thr) c.-888+1361T>G (n.-888+1361T>G) | |
| 17 | g.4932981A>G | CA397316215 | CHRNE,GP1BA | c.377A>G (p.Asn126Ser) c.-888+1361T>C (n.-888+1361T>C) | |
| 17 | g.4932981A>T | CA397316216 | CHRNE,GP1BA | c.377A>T (p.Asn126Ile) c.-888+1361T>A (n.-888+1361T>A) | |
| 17 | g.4932982C>A | CA397316217 | CHRNE,GP1BA | c.378C>A (p.Asn126Lys) c.-888+1360G>T (n.-888+1360G>T) | |
| 17 | g.4932982C>G | CA397316218 | CHRNE,GP1BA | c.378C>G (p.Asn126Lys) c.-888+1360G>C (n.-888+1360G>C) | |
| 17 | g.4932982C>T | CA497677280 | CHRNE,GP1BA | c.378C>T (p.Asn126=) c.-888+1360G>A (n.-888+1360G>A) | |
| 17 | g.4932983C>A | CA8314760 | CHRNE,GP1BA | c.379C>A (p.Arg127=) c.-888+1359G>T (n.-888+1359G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932983C= | CA2244625386 | CHRNE,GP1BA | c.379C= (p.Arg127=) c.-888+1359G= (n.-888+1359G=) | |
| 17 | g.4932983C>G | CA397316219 | CHRNE,GP1BA | c.379C>G (p.Arg127Gly) c.-888+1359G>C (n.-888+1359G>C) | |
| 17 | g.4932983C>T | CA8314759 | CHRNE,GP1BA | c.379C>T (p.Arg127Trp) c.-888+1359G>A (n.-888+1359G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932984G>A | CA8314761 | CHRNE,GP1BA | c.380G>A (p.Arg127Gln) c.-888+1358C>T (n.-888+1358C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932984G>C | CA397316220 | CHRNE,GP1BA | c.380G>C (p.Arg127Pro) c.-888+1358C>G (n.-888+1358C>G) | |
| 17 | g.4932984G= | CA2244625387 | CHRNE,GP1BA | c.380G= (p.Arg127=) c.-888+1358C= (n.-888+1358C=) | |
| 17 | g.4932984G>T | CA397316222 | CHRNE,GP1BA | c.380G>T (p.Arg127Leu) c.-888+1358C>A (n.-888+1358C>A) | |
| 17 | g.4932985G>A | CA497677287 | CHRNE,GP1BA | c.381G>A (p.Arg127=) c.-888+1357C>T (n.-888+1357C>T) | |
| 17 | g.4932985G>C | CA497677290 | CHRNE,GP1BA | c.381G>C (p.Arg127=) c.-888+1357C>G (n.-888+1357C>G) | |
| 17 | g.4932985G>T | CA497677289 | CHRNE,GP1BA | c.381G>T (p.Arg127=) c.-888+1357C>A (n.-888+1357C>A) | |
| 17 | g.4932986C>A | CA397316224 | CHRNE,GP1BA | c.382C>A (p.Leu128Met) c.-888+1356G>T (n.-888+1356G>T) | |
| 17 | g.4932986C>G | CA397316226 | CHRNE,GP1BA | c.382C>G (p.Leu128Val) c.-888+1356G>C (n.-888+1356G>C) | |
| 17 | g.4932986C>T | CA497677291 | CHRNE,GP1BA | c.382C>T (p.Leu128=) c.-888+1356G>A (n.-888+1356G>A) | |
| 17 | g.4932987T>A | CA397316229 | CHRNE,GP1BA | c.383T>A (p.Leu128Gln) c.-888+1355A>T (n.-888+1355A>T) | |
| 17 | g.4932987T>C | CA397316231 | CHRNE,GP1BA | c.383T>C (p.Leu128Pro) c.-888+1355A>G (n.-888+1355A>G) | |
| 17 | g.4932987T>G | CA397316233 | CHRNE,GP1BA | c.383T>G (p.Leu128Arg) c.-888+1355A>C (n.-888+1355A>C) | |
| 17 | g.4932988G>A | CA497677293 | CHRNE,GP1BA | c.384G>A (p.Leu128=) c.-888+1354C>T (n.-888+1354C>T) | |
| 17 | g.4932988G>C | CA497677294 | CHRNE,GP1BA | c.384G>C (p.Leu128=) c.-888+1354C>G (n.-888+1354C>G) | |
| 17 | g.4932988G>T | CA497677295 | CHRNE,GP1BA | c.384G>T (p.Leu128=) c.-888+1354C>A (n.-888+1354C>A) | |
| 17 | g.4932989A>C | CA397316235 | CHRNE,GP1BA | c.385A>C (p.Thr129Pro) c.-888+1353T>G (n.-888+1353T>G) | |
| 17 | g.4932989A>G | CA397316237 | CHRNE,GP1BA | c.385A>G (p.Thr129Ala) c.-888+1353T>C (n.-888+1353T>C) | |
| 17 | g.4932989A>T | CA397316240 | CHRNE,GP1BA | c.385A>T (p.Thr129Ser) c.-888+1353T>A (n.-888+1353T>A) | |
| 17 | g.4932990C>A | CA397316243 | CHRNE,GP1BA | c.386C>A (p.Thr129Asn) c.-888+1352G>T (n.-888+1352G>T) | |
| 17 | g.4932990C>G | CA397316245 | CHRNE,GP1BA | c.386C>G (p.Thr129Ser) c.-888+1352G>C (n.-888+1352G>C) | |
| 17 | g.4932990C>T | CA397316247 | CHRNE,GP1BA | c.386C>T (p.Thr129Ile) c.-888+1352G>A (n.-888+1352G>A) | |
| 17 | g.4932991del | CA2580612246 | CHRNE,GP1BA | c.387del (p.Ser130ArgfsTer18) c.-888+1352del (n.-888+1352del) | gnomAD v4 |
| 17 | g.4932991C>A | CA497677299 | CHRNE,GP1BA | c.387C>A (p.Thr129=) c.-888+1351G>T (n.-888+1351G>T) | |
| 17 | g.4932991C>G | CA497677300 | CHRNE,GP1BA | c.387C>G (p.Thr129=) c.-888+1351G>C (n.-888+1351G>C) | |
| 17 | g.4932991C>T | CA497677302 | CHRNE,GP1BA | c.387C>T (p.Thr129=) c.-888+1351G>A (n.-888+1351G>A) | gnomAD v4 |
| 17 | g.4932992T>A | CA397316258 | CHRNE,GP1BA | c.388T>A (p.Ser130Thr) c.-888+1350A>T (n.-888+1350A>T) | |
| 17 | g.4932992T>C | CA397316253 | CHRNE,GP1BA | c.388T>C (p.Ser130Pro) c.-888+1350A>G (n.-888+1350A>G) | |
| 17 | g.4932992T>G | CA397316251 | CHRNE,GP1BA | c.388T>G (p.Ser130Ala) c.-888+1350A>C (n.-888+1350A>C) | |
| 17 | g.4932993C>A | CA397316261 | CHRNE,GP1BA | c.389C>A (p.Ser130Ter) c.-888+1349G>T (n.-888+1349G>T) | |
| 17 | g.4932993C= | CA2244625388 | CHRNE,GP1BA | c.389C= (p.Ser130=) c.-888+1349G= (n.-888+1349G=) | |
| 17 | g.4932993C>G | CA397316260 | CHRNE,GP1BA | c.389C>G (p.Ser130Trp) c.-888+1349G>C (n.-888+1349G>C) | |
| 17 | g.4932993C>T | CA8314762 | CHRNE,GP1BA | c.389C>T (p.Ser130Leu) c.-888+1349G>A (n.-888+1349G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932994G>A | CA8314763 | CHRNE,GP1BA | c.390G>A (p.Ser130=) c.-888+1348C>T (n.-888+1348C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932994G>C | CA497677303 | CHRNE,GP1BA | c.390G>C (p.Ser130=) c.-888+1348C>G (n.-888+1348C>G) | |
| 17 | g.4932994G= | CA2244625389 | CHRNE,GP1BA | c.390G= (p.Ser130=) c.-888+1348C= (n.-888+1348C=) | |
| 17 | g.4932994G>T | CA497677304 | CHRNE,GP1BA | c.390G>T (p.Ser130=) c.-888+1348C>A (n.-888+1348C>A) | |
| 17 | g.4932995C>A | CA397316265 | CHRNE,GP1BA | c.391C>A (p.Leu131Met) c.-888+1347G>T (n.-888+1347G>T) | gnomAD v4 |
| 17 | g.4932995C= | CA2244625390 | CHRNE,GP1BA | c.391C= (p.Leu131=) c.-888+1347G= (n.-888+1347G=) | |
| 17 | g.4932995C>G | CA397316267 | CHRNE,GP1BA | c.391C>G (p.Leu131Val) c.-888+1347G>C (n.-888+1347G>C) | |
| 17 | g.4932995C>T | CA497677307 | CHRNE,GP1BA | c.391C>T (p.Leu131=) c.-888+1347G>A (n.-888+1347G>A) | dbSNP |
| 17 | g.4932996T>A | CA397316269 | CHRNE,GP1BA | c.392T>A (p.Leu131Gln) c.-888+1346A>T (n.-888+1346A>T) | |
| 17 | g.4932996T>C | CA397316271 | CHRNE,GP1BA | c.392T>C (p.Leu131Pro) c.-888+1346A>G (n.-888+1346A>G) | |
| 17 | g.4932996T>G | CA397316272 | CHRNE,GP1BA | c.392T>G (p.Leu131Arg) c.-888+1346A>C (n.-888+1346A>C) | |
| 17 | g.4932997G>A | CA497677308 | CHRNE,GP1BA | c.393G>A (p.Leu131=) c.-888+1345C>T (n.-888+1345C>T) | |
| 17 | g.4932997G>C | CA497677309 | CHRNE,GP1BA | c.393G>C (p.Leu131=) c.-888+1345C>G (n.-888+1345C>G) | |
| 17 | g.4932997G>T | CA497677311 | CHRNE,GP1BA | c.393G>T (p.Leu131=) c.-888+1345C>A (n.-888+1345C>A) | |
| 17 | g.4932998C>A | CA397316273 | CHRNE,GP1BA | c.394C>A (p.Pro132Thr) c.-888+1344G>T (n.-888+1344G>T) | |
| 17 | g.4932998C>G | CA397316275 | CHRNE,GP1BA | c.394C>G (p.Pro132Ala) c.-888+1344G>C (n.-888+1344G>C) | |
| 17 | g.4932998C>T | CA397316277 | CHRNE,GP1BA | c.394C>T (p.Pro132Ser) c.-888+1344G>A (n.-888+1344G>A) | gnomAD v4 |
| 17 | g.4932999C>A | CA397316279 | CHRNE,GP1BA | c.395C>A (p.Pro132His) c.-888+1343G>T (n.-888+1343G>T) | |
| 17 | g.4932999C= | CA2244625391 | CHRNE,GP1BA | c.395C= (p.Pro132=) c.-888+1343G= (n.-888+1343G=) | |
| 17 | g.4932999C>G | CA397316280 | CHRNE,GP1BA | c.395C>G (p.Pro132Arg) c.-888+1343G>C (n.-888+1343G>C) | |
| 17 | g.4932999C>T | CA8314764 | CHRNE,GP1BA | c.395C>T (p.Pro132Leu) c.-888+1343G>A (n.-888+1343G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933000T>A | CA497677312 | CHRNE,GP1BA | c.396T>A (p.Pro132=) c.-888+1342A>T (n.-888+1342A>T) | |
| 17 | g.4933000T>C | CA8314765 | CHRNE,GP1BA | c.396T>C (p.Pro132=) c.-888+1342A>G (n.-888+1342A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933000T>G | CA497677313 | CHRNE,GP1BA | c.396T>G (p.Pro132=) c.-888+1342A>C (n.-888+1342A>C) | |
| 17 | g.4933000T= | CA2244625392 | CHRNE,GP1BA | c.396T= (p.Pro132=) c.-888+1342A= (n.-888+1342A=) | |
| 17 | g.4933001C>A | CA397316286 | CHRNE,GP1BA | c.397C>A (p.Leu133Ile) c.-888+1341G>T (n.-888+1341G>T) | |
| 17 | g.4933001C>G | CA397316285 | CHRNE,GP1BA | c.397C>G (p.Leu133Val) c.-888+1341G>C (n.-888+1341G>C) | |
| 17 | g.4933001C>T | CA397316283 | CHRNE,GP1BA | c.397C>T (p.Leu133Phe) c.-888+1341G>A (n.-888+1341G>A) | |
| 17 | g.4933002T>A | CA397316288 | CHRNE,GP1BA | c.398T>A (p.Leu133His) c.-888+1340A>T (n.-888+1340A>T) | |
| 17 | g.4933002T>C | CA397316290 | CHRNE,GP1BA | c.398T>C (p.Leu133Pro) c.-888+1340A>G (n.-888+1340A>G) | gnomAD v4 |
| 17 | g.4933002T>G | CA397316291 | CHRNE,GP1BA | c.398T>G (p.Leu133Arg) c.-888+1340A>C (n.-888+1340A>C) | |
| 17 | g.4933003T>A | CA497677315 | CHRNE,GP1BA | c.399T>A (p.Leu133=) c.-888+1339A>T (n.-888+1339A>T) | |
| 17 | g.4933003T>C | CA497677317 | CHRNE,GP1BA | c.399T>C (p.Leu133=) c.-888+1339A>G (n.-888+1339A>G) | gnomAD v4 |
| 17 | g.4933003T>G | CA497677319 | CHRNE,GP1BA | c.399T>G (p.Leu133=) c.-888+1339A>C (n.-888+1339A>C) | |
| 17 | g.4933004G>A | CA397316292 | CHRNE,GP1BA | c.400G>A (p.Gly134Ser) c.-888+1338C>T (n.-888+1338C>T) | |
| 17 | g.4933004G>C | CA397316293 | CHRNE,GP1BA | c.400G>C (p.Gly134Arg) c.-888+1338C>G (n.-888+1338C>G) | |
| 17 | g.4933004G>T | CA397316294 | CHRNE,GP1BA | c.400G>T (p.Gly134Cys) c.-888+1338C>A (n.-888+1338C>A) | |
| 17 | g.4933005G>A | CA397316296 | CHRNE,GP1BA | c.401G>A (p.Gly134Asp) c.-888+1337C>T (n.-888+1337C>T) | |
| 17 | g.4933005G>C | CA397316297 | CHRNE,GP1BA | c.401G>C (p.Gly134Ala) c.-888+1337C>G (n.-888+1337C>G) | |
| 17 | g.4933005G>T | CA397316299 | CHRNE,GP1BA | c.401G>T (p.Gly134Val) c.-888+1337C>A (n.-888+1337C>A) | |
| 17 | g.4933006T>A | CA497677321 | CHRNE,GP1BA | c.402T>A (p.Gly134=) c.-888+1336A>T (n.-888+1336A>T) | |
| 17 | g.4933006T>C | CA8314766 | CHRNE,GP1BA | c.402T>C (p.Gly134=) c.-888+1336A>G (n.-888+1336A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933006T>G | CA497677323 | CHRNE,GP1BA | c.402T>G (p.Gly134=) c.-888+1336A>C (n.-888+1336A>C) | |
| 17 | g.4933006T= | CA2244625393 | CHRNE,GP1BA | c.402T= (p.Gly134=) c.-888+1336A= (n.-888+1336A=) | |
| 17 | g.4933007G>A | CA397316301 | CHRNE,GP1BA | c.403G>A (p.Ala135Thr) c.-888+1335C>T (n.-888+1335C>T) | COSMIC |
| 17 | g.4933007G>C | CA397316302 | CHRNE,GP1BA | c.403G>C (p.Ala135Pro) c.-888+1335C>G (n.-888+1335C>G) | |
| 17 | g.4933007G>T | CA397316305 | CHRNE,GP1BA | c.403G>T (p.Ala135Ser) c.-888+1335C>A (n.-888+1335C>A) | |
| 17 | g.4933008C>A | CA397316308 | CHRNE,GP1BA | c.404C>A (p.Ala135Asp) c.-888+1334G>T (n.-888+1334G>T) | |
| 17 | g.4933008C= | CA2244625394 | CHRNE,GP1BA | c.404C= (p.Ala135=) c.-888+1334G= (n.-888+1334G=) | |
| 17 | g.4933008C>G | CA397316309 | CHRNE,GP1BA | c.404C>G (p.Ala135Gly) c.-888+1334G>C (n.-888+1334G>C) | |
| 17 | g.4933008C>T | CA397316306 | CHRNE,GP1BA | c.404C>T (p.Ala135Val) c.-888+1334G>A (n.-888+1334G>A) | dbSNP |
| 17 | g.4933010del | CA2635578688 | CHRNE,GP1BA | c.406del (p.Leu136CysfsTer12) c.-888+1334del (n.-888+1334del) | gnomAD v4 |
| 17 | g.4933009C>A | CA497677326 | CHRNE,GP1BA | c.405C>A (p.Ala135=) c.-888+1333G>T (n.-888+1333G>T) | |
| 17 | g.4933009C>G | CA497677327 | CHRNE,GP1BA | c.405C>G (p.Ala135=) c.-888+1333G>C (n.-888+1333G>C) | |
| 17 | g.4933009C>T | CA497677328 | CHRNE,GP1BA | c.405C>T (p.Ala135=) c.-888+1333G>A (n.-888+1333G>A) | |
| 17 | g.4933010C>A | CA397316311 | CHRNE,GP1BA | c.406C>A (p.Leu136Met) c.-888+1332G>T (n.-888+1332G>T) | |
| 17 | g.4933010C= | CA2244625395 | CHRNE,GP1BA | c.406C= (p.Leu136=) c.-888+1332G= (n.-888+1332G=) | |
| 17 | g.4933010C>G | CA397316312 | CHRNE,GP1BA | c.406C>G (p.Leu136Val) c.-888+1332G>C (n.-888+1332G>C) | |
| 17 | g.4933010C>T | CA497677330 | CHRNE,GP1BA | c.406C>T (p.Leu136=) c.-888+1332G>A (n.-888+1332G>A) | dbSNP |
| 17 | g.4933011T>A | CA397316313 | CHRNE,GP1BA | c.407T>A (p.Leu136Gln) c.-888+1331A>T (n.-888+1331A>T) | |
| 17 | g.4933011T>C | CA397316315 | CHRNE,GP1BA | c.407T>C (p.Leu136Pro) c.-888+1331A>G (n.-888+1331A>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933011T>G | CA397316316 | CHRNE,GP1BA | c.407T>G (p.Leu136Arg) c.-888+1331A>C (n.-888+1331A>C) | |
| 17 | g.4933011T= | CA2244625396 | CHRNE,GP1BA | c.407T= (p.Leu136=) c.-888+1331A= (n.-888+1331A=) | |
| 17 | g.4933012G>A | CA497677332 | CHRNE,GP1BA | c.408G>A (p.Leu136=) c.-888+1330C>T (n.-888+1330C>T) | |
| 17 | g.4933012G>C | CA497677333 | CHRNE,GP1BA | c.408G>C (p.Leu136=) c.-888+1330C>G (n.-888+1330C>G) | |
| 17 | g.4933012G>T | CA497677334 | CHRNE,GP1BA | c.408G>T (p.Leu136=) c.-888+1330C>A (n.-888+1330C>A) | |
| 17 | g.4933013C>A | CA397316318 | CHRNE,GP1BA | c.409C>A (p.Arg137Ser) c.-888+1329G>T (n.-888+1329G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933013C= | CA2244625397 | CHRNE,GP1BA | c.409C= (p.Arg137=) c.-888+1329G= (n.-888+1329G=) | |
| 17 | g.4933013C>G | CA397316320 | CHRNE,GP1BA | c.409C>G (p.Arg137Gly) c.-888+1329G>C (n.-888+1329G>C) | |
| 17 | g.4933013C>T | CA397316321 | CHRNE,GP1BA | c.409C>T (p.Arg137Cys) c.-888+1329G>A (n.-888+1329G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933014G>A | CA8314767 | CHRNE,GP1BA | c.410G>A (p.Arg137His) c.-888+1328C>T (n.-888+1328C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933014G>C | CA397316324 | CHRNE,GP1BA | c.410G>C (p.Arg137Pro) c.-888+1328C>G (n.-888+1328C>G) | |
| 17 | g.4933014G= | CA2244625398 | CHRNE,GP1BA | c.410G= (p.Arg137=) c.-888+1328C= (n.-888+1328C=) | |
| 17 | g.4933014G>T | CA397316326 | CHRNE,GP1BA | c.410G>T (p.Arg137Leu) c.-888+1328C>A (n.-888+1328C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933015T>A | CA497677340 | CHRNE,GP1BA | c.411T>A (p.Arg137=) c.-888+1327A>T (n.-888+1327A>T) | |
| 17 | g.4933015T>C | CA497677339 | CHRNE,GP1BA | c.411T>C (p.Arg137=) c.-888+1327A>G (n.-888+1327A>G) | |
| 17 | g.4933015T>G | CA497677338 | CHRNE,GP1BA | c.411T>G (p.Arg137=) c.-888+1327A>C (n.-888+1327A>C) | |
| 17 | g.4933016G>A | CA397316330 | CHRNE,GP1BA | c.412G>A (p.Gly138Ser) c.-888+1326C>T (n.-888+1326C>T) | |
| 17 | g.4933016G>C | CA397316329 | CHRNE,GP1BA | c.412G>C (p.Gly138Arg) c.-888+1326C>G (n.-888+1326C>G) | |
| 17 | g.4933016G= | CA2244625399 | CHRNE,GP1BA | c.412G= (p.Gly138=) c.-888+1326C= (n.-888+1326C=) | |
| 17 | g.4933016G>T | CA287216070 | CHRNE,GP1BA | c.412G>T (p.Gly138Cys) c.-888+1326C>A (n.-888+1326C>A) | dbSNP |
| 17 | g.4933017G>A | CA397316331 | CHRNE,GP1BA | c.413G>A (p.Gly138Asp) c.-888+1325C>T (n.-888+1325C>T) | |
| 17 | g.4933017G>C | CA397316332 | CHRNE,GP1BA | c.413G>C (p.Gly138Ala) c.-888+1325C>G (n.-888+1325C>G) | |
| 17 | g.4933017G= | CA2244625400 | CHRNE,GP1BA | c.413G= (p.Gly138=) c.-888+1325C= (n.-888+1325C=) | |
| 17 | g.4933017G>T | CA397316334 | CHRNE,GP1BA | c.413G>T (p.Gly138Val) c.-888+1325C>A (n.-888+1325C>A) | ClinVar dbSNP |
| 17 | g.4933018T>A | CA497677342 | CHRNE,GP1BA | c.414T>A (p.Gly138=) c.-888+1324A>T (n.-888+1324A>T) | |
| 17 | g.4933018T>C | CA497677343 | CHRNE,GP1BA | c.414T>C (p.Gly138=) c.-888+1324A>G (n.-888+1324A>G) | |
| 17 | g.4933018T>G | CA497677344 | CHRNE,GP1BA | c.414T>G (p.Gly138=) c.-888+1324A>C (n.-888+1324A>C) | |
| 17 | g.4933019C>A | CA397316336 | CHRNE,GP1BA | c.415C>A (p.Leu139Ile) c.-888+1323G>T (n.-888+1323G>T) | |
| 17 | g.4933019C= | CA2244625401 | CHRNE,GP1BA | c.415C= (p.Leu139=) c.-888+1323G= (n.-888+1323G=) | |
| 17 | g.4933019C>G | CA397316338 | CHRNE,GP1BA | c.415C>G (p.Leu139Val) c.-888+1323G>C (n.-888+1323G>C) | |
| 17 | g.4933019C>T | CA8314768 | CHRNE,GP1BA | c.415C>T (p.Leu139Phe) c.-888+1323G>A (n.-888+1323G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933020T>A | CA397316341 | CHRNE,GP1BA | c.416T>A (p.Leu139His) c.-888+1322A>T (n.-888+1322A>T) | |
| 17 | g.4933020T>C | CA397316342 | CHRNE,GP1BA | c.416T>C (p.Leu139Pro) c.-888+1322A>G (n.-888+1322A>G) | dbSNP gnomAD v4 |
| 17 | g.4933020T>G | CA397316343 | CHRNE,GP1BA | c.416T>G (p.Leu139Arg) c.-888+1322A>C (n.-888+1322A>C) | |
| 17 | g.4933020T= | CA2244625402 | CHRNE,GP1BA | c.416T= (p.Leu139=) c.-888+1322A= (n.-888+1322A=) | |
| 17 | g.4933021T>A | CA497677347 | CHRNE,GP1BA | c.417T>A (p.Leu139=) c.-888+1321A>T (n.-888+1321A>T) | |
| 17 | g.4933021T>C | CA497677350 | CHRNE,GP1BA | c.417T>C (p.Leu139=) c.-888+1321A>G (n.-888+1321A>G) | |
| 17 | g.4933021T>G | CA497677349 | CHRNE,GP1BA | c.417T>G (p.Leu139=) c.-888+1321A>C (n.-888+1321A>C) | |
| 17 | g.4933022G>A | CA397316345 | CHRNE,GP1BA | c.418G>A (p.Gly140Ser) c.-888+1320C>T (n.-888+1320C>T) | |
| 17 | g.4933022G>C | CA397316348 | CHRNE,GP1BA | c.418G>C (p.Gly140Arg) c.-888+1320C>G (n.-888+1320C>G) | |
| 17 | g.4933022G>T | CA397316354 | CHRNE,GP1BA | c.418G>T (p.Gly140Cys) c.-888+1320C>A (n.-888+1320C>A) | |
| 17 | g.4933023G>A | CA397316358 | CHRNE,GP1BA | c.419G>A (p.Gly140Asp) c.-888+1319C>T (n.-888+1319C>T) | |
| 17 | g.4933023G>C | CA397316360 | CHRNE,GP1BA | c.419G>C (p.Gly140Ala) c.-888+1319C>G (n.-888+1319C>G) | |
| 17 | g.4933023G>T | CA397316356 | CHRNE,GP1BA | c.419G>T (p.Gly140Val) c.-888+1319C>A (n.-888+1319C>A) | |
| 17 | g.4933024C>A | CA8314770 | CHRNE,GP1BA | c.420C>A (p.Gly140=) c.-888+1318G>T (n.-888+1318G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933024C= | CA2244625403 | CHRNE,GP1BA | c.420C= (p.Gly140=) c.-888+1318G= (n.-888+1318G=) | |
| 17 | g.4933024C>G | CA497677352 | CHRNE,GP1BA | c.420C>G (p.Gly140=) c.-888+1318G>C (n.-888+1318G>C) | |
| 17 | g.4933024C>T | CA8314769 | CHRNE,GP1BA | c.420C>T (p.Gly140=) c.-888+1318G>A (n.-888+1318G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933025G>A | CA8314771 | CHRNE,GP1BA | c.421G>A (p.Glu141Lys) c.-888+1317C>T (n.-888+1317C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933025G>C | CA397316371 | CHRNE,GP1BA | c.421G>C (p.Glu141Gln) c.-888+1317C>G (n.-888+1317C>G) | |
| 17 | g.4933025G= | CA2244625404 | CHRNE,GP1BA | c.421G= (p.Glu141=) c.-888+1317C= (n.-888+1317C=) | |
| 17 | g.4933025G>T | CA397316375 | CHRNE,GP1BA | c.421G>T (p.Glu141Ter) c.-888+1317C>A (n.-888+1317C>A) | |
| 17 | g.4933026A>C | CA397316379 | CHRNE,GP1BA | c.422A>C (p.Glu141Ala) c.-888+1316T>G (n.-888+1316T>G) | |
| 17 | g.4933026A>G | CA397316382 | CHRNE,GP1BA | c.422A>G (p.Glu141Gly) c.-888+1316T>C (n.-888+1316T>C) | |
| 17 | g.4933026A>T | CA397316388 | CHRNE,GP1BA | c.422A>T (p.Glu141Val) c.-888+1316T>A (n.-888+1316T>A) | |
| 17 | g.4933027A>C | CA397316390 | CHRNE,GP1BA | c.423A>C (p.Glu141Asp) c.-888+1315T>G (n.-888+1315T>G) | |
| 17 | g.4933027A>G | CA497677354 | CHRNE,GP1BA | c.423A>G (p.Glu141=) c.-888+1315T>C (n.-888+1315T>C) | |
| 17 | g.4933027A>T | CA397316391 | CHRNE,GP1BA | c.423A>T (p.Glu141Asp) c.-888+1315T>A (n.-888+1315T>A) | |
| 17 | g.4933028C>A | CA8314772 | CHRNE,GP1BA | c.424C>A (p.Leu142Ile) c.-888+1314G>T (n.-888+1314G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933028C= | CA2244625405 | CHRNE,GP1BA | c.424C= (p.Leu142=) c.-888+1314G= (n.-888+1314G=) | |
| 17 | g.4933028C>G | CA397316397 | CHRNE,GP1BA | c.424C>G (p.Leu142Val) c.-888+1314G>C (n.-888+1314G>C) | gnomAD v4 |
| 17 | g.4933028C>T | CA397316400 | CHRNE,GP1BA | c.424C>T (p.Leu142Phe) c.-888+1314G>A (n.-888+1314G>A) | |
| 17 | g.4933029T>A | CA8314773 | CHRNE,GP1BA | c.425T>A (p.Leu142His) c.-888+1313A>T (n.-888+1313A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933029T>C | CA397316409 | CHRNE,GP1BA | c.425T>C (p.Leu142Pro) c.-888+1313A>G (n.-888+1313A>G) | |
| 17 | g.4933029T>G | CA397316404 | CHRNE,GP1BA | c.425T>G (p.Leu142Arg) c.-888+1313A>C (n.-888+1313A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933029T= | CA2244625406 | CHRNE,GP1BA | c.425T= (p.Leu142=) c.-888+1313A= (n.-888+1313A=) | |
| 17 | g.4933030C>A | CA497677356 | CHRNE,GP1BA | c.426C>A (p.Leu142=) c.-888+1312G>T (n.-888+1312G>T) | |
| 17 | g.4933030C>G | CA497677357 | CHRNE,GP1BA | c.426C>G (p.Leu142=) c.-888+1312G>C (n.-888+1312G>C) | |
| 17 | g.4933030C>T | CA497677358 | CHRNE,GP1BA | c.426C>T (p.Leu142=) c.-888+1312G>A (n.-888+1312G>A) | |
| 17 | g.4933031C>A | CA397316418 | CHRNE,GP1BA | c.427C>A (p.Gln143Lys) c.-888+1311G>T (n.-888+1311G>T) | |
| 17 | g.4933031C>G | CA397316421 | CHRNE,GP1BA | c.427C>G (p.Gln143Glu) c.-888+1311G>C (n.-888+1311G>C) | |
| 17 | g.4933031C>T | CA397316425 | CHRNE,GP1BA | c.427C>T (p.Gln143Ter) c.-888+1311G>A (n.-888+1311G>A) | |
| 17 | g.4933032A>C | CA397316428 | CHRNE,GP1BA | c.428A>C (p.Gln143Pro) c.-888+1310T>G (n.-888+1310T>G) | |
| 17 | g.4933032A>G | CA397316432 | CHRNE,GP1BA | c.428A>G (p.Gln143Arg) c.-888+1310T>C (n.-888+1310T>C) | |
| 17 | g.4933032A>T | CA397316436 | CHRNE,GP1BA | c.428A>T (p.Gln143Leu) c.-888+1310T>A (n.-888+1310T>A) | |
| 17 | g.4933033A>C | CA397316439 | CHRNE,GP1BA | c.429A>C (p.Gln143His) c.-888+1309T>G (n.-888+1309T>G) | |
| 17 | g.4933033A>G | CA497677361 | CHRNE,GP1BA | c.429A>G (p.Gln143=) c.-888+1309T>C (n.-888+1309T>C) | |
| 17 | g.4933033A>T | CA397316443 | CHRNE,GP1BA | c.429A>T (p.Gln143His) c.-888+1309T>A (n.-888+1309T>A) | |
| 17 | g.4933034G>A | CA397316451 | CHRNE,GP1BA | c.430G>A (p.Glu144Lys) c.-888+1308C>T (n.-888+1308C>T) | |
| 17 | g.4933034G>C | CA397316454 | CHRNE,GP1BA | c.430G>C (p.Glu144Gln) c.-888+1308C>G (n.-888+1308C>G) | |
| 17 | g.4933034G>T | CA397316459 | CHRNE,GP1BA | c.430G>T (p.Glu144Ter) c.-888+1308C>A (n.-888+1308C>A) | |
| 17 | g.4933035A>C | CA397316463 | CHRNE,GP1BA | c.431A>C (p.Glu144Ala) c.-888+1307T>G (n.-888+1307T>G) | |
| 17 | g.4933035A>G | CA397316479 | CHRNE,GP1BA | c.431A>G (p.Glu144Gly) c.-888+1307T>C (n.-888+1307T>C) | |
| 17 | g.4933035A>T | CA397316482 | CHRNE,GP1BA | c.431A>T (p.Glu144Val) c.-888+1307T>A (n.-888+1307T>A) | |
| 17 | g.4933036G>A | CA497677366 | CHRNE,GP1BA | c.432G>A (p.Glu144=) c.-888+1306C>T (n.-888+1306C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933036G>C | CA397316485 | CHRNE,GP1BA | c.432G>C (p.Glu144Asp) c.-888+1306C>G (n.-888+1306C>G) | |
| 17 | g.4933036G= | CA2244625407 | CHRNE,GP1BA | c.432G= (p.Glu144=) c.-888+1306C= (n.-888+1306C=) | |
| 17 | g.4933036G>T | CA397316488 | CHRNE,GP1BA | c.432G>T (p.Glu144Asp) c.-888+1306C>A (n.-888+1306C>A) | |
| 17 | g.4933037C>A | CA397316492 | CHRNE,GP1BA | c.433C>A (p.Leu145Ile) c.-888+1305G>T (n.-888+1305G>T) | |
| 17 | g.4933037C= | CA2244625408 | CHRNE,GP1BA | c.433C= (p.Leu145=) c.-888+1305G= (n.-888+1305G=) | |
| 17 | g.4933037C>G | CA397316494 | CHRNE,GP1BA | c.433C>G (p.Leu145Val) c.-888+1305G>C (n.-888+1305G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933037C>T | CA397316497 | CHRNE,GP1BA | c.433C>T (p.Leu145Phe) c.-888+1305G>A (n.-888+1305G>A) | |
| 17 | g.4933038T>A | CA397316512 | CHRNE,GP1BA | c.434T>A (p.Leu145His) c.-888+1304A>T (n.-888+1304A>T) | |
| 17 | g.4933038T>C | CA8314774 | CHRNE,GP1BA | c.434T>C (p.Leu145Pro) c.-888+1304A>G (n.-888+1304A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933038T>G | CA397316519 | CHRNE,GP1BA | c.434T>G (p.Leu145Arg) c.-888+1304A>C (n.-888+1304A>C) | |
| 17 | g.4933038T= | CA2244625409 | CHRNE,GP1BA | c.434T= (p.Leu145=) c.-888+1304A= (n.-888+1304A=) | |
| 17 | g.4933039C>A | CA497677368 | CHRNE,GP1BA | c.435C>A (p.Leu145=) c.-888+1303G>T (n.-888+1303G>T) | |
| 17 | g.4933039C>G | CA497677369 | CHRNE,GP1BA | c.435C>G (p.Leu145=) c.-888+1303G>C (n.-888+1303G>C) | COSMIC |
| 17 | g.4933039C>T | CA497677370 | CHRNE,GP1BA | c.435C>T (p.Leu145=) c.-888+1303G>A (n.-888+1303G>A) | |
| 17 | g.4933040T>A | CA397316523 | CHRNE,GP1BA | c.436T>A (p.Tyr146Asn) c.-888+1302A>T (n.-888+1302A>T) | |
| 17 | g.4933040T>C | CA8314775 | CHRNE,GP1BA | c.436T>C (p.Tyr146His) c.-888+1302A>G (n.-888+1302A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933040T>G | CA397316528 | CHRNE,GP1BA | c.436T>G (p.Tyr146Asp) c.-888+1302A>C (n.-888+1302A>C) | |
| 17 | g.4933040T= | CA2244625410 | CHRNE,GP1BA | c.436T= (p.Tyr146=) c.-888+1302A= (n.-888+1302A=) | |
| 17 | g.4933041A= | CA2244625411 | CHRNE,GP1BA | c.437A= (p.Tyr146=) c.-888+1301T= (n.-888+1301T=) | |
| 17 | g.4933041A>C | CA397316531 | CHRNE,GP1BA | c.437A>C (p.Tyr146Ser) c.-888+1301T>G (n.-888+1301T>G) | gnomAD v4 |
| 17 | g.4933041A>G | CA397316535 | CHRNE,GP1BA | c.437A>G (p.Tyr146Cys) c.-888+1301T>C (n.-888+1301T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933041A>T | CA397316538 | CHRNE,GP1BA | c.437A>T (p.Tyr146Phe) c.-888+1301T>A (n.-888+1301T>A) | |
| 17 | g.4933042C>A | CA397316541 | CHRNE,GP1BA | c.438C>A (p.Tyr146Ter) c.-888+1300G>T (n.-888+1300G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933042C= | CA2244625412 | CHRNE,GP1BA | c.438C= (p.Tyr146=) c.-888+1300G= (n.-888+1300G=) | |
| 17 | g.4933042C>G | CA397316545 | CHRNE,GP1BA | c.438C>G (p.Tyr146Ter) c.-888+1300G>C (n.-888+1300G>C) | |
| 17 | g.4933042C>T | CA287216132 | CHRNE,GP1BA | c.438C>T (p.Tyr146=) c.-888+1300G>A (n.-888+1300G>A) | dbSNP |
| 17 | g.4933043C>A | CA397316549 | CHRNE,GP1BA | c.439C>A (p.Leu147Met) c.-888+1299G>T (n.-888+1299G>T) | |
| 17 | g.4933043C>G | CA397316550 | CHRNE,GP1BA | c.439C>G (p.Leu147Val) c.-888+1299G>C (n.-888+1299G>C) | |
| 17 | g.4933043C>T | CA497677374 | CHRNE,GP1BA | c.439C>T (p.Leu147=) c.-888+1299G>A (n.-888+1299G>A) | |
| 17 | g.4933044T>A | CA397316552 | CHRNE,GP1BA | c.440T>A (p.Leu147Gln) c.-888+1298A>T (n.-888+1298A>T) | |
| 17 | g.4933044T>C | CA397316554 | CHRNE,GP1BA | c.440T>C (p.Leu147Pro) c.-888+1298A>G (n.-888+1298A>G) | |
| 17 | g.4933044T>G | CA397316557 | CHRNE,GP1BA | c.440T>G (p.Leu147Arg) c.-888+1298A>C (n.-888+1298A>C) | |
| 17 | g.4933045G>A | CA8314776 | CHRNE,GP1BA | c.441G>A (p.Leu147=) c.-888+1297C>T (n.-888+1297C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933045G>C | CA497677376 | CHRNE,GP1BA | c.441G>C (p.Leu147=) c.-888+1297C>G (n.-888+1297C>G) | |
| 17 | g.4933045G= | CA2244625413 | CHRNE,GP1BA | c.441G= (p.Leu147=) c.-888+1297C= (n.-888+1297C=) | |
| 17 | g.4933045G>T | CA497677377 | CHRNE,GP1BA | c.441G>T (p.Leu147=) c.-888+1297C>A (n.-888+1297C>A) | |
| 17 | g.4933046A>C | CA397316558 | CHRNE,GP1BA | c.442A>C (p.Lys148Gln) c.-888+1296T>G (n.-888+1296T>G) | |
| 17 | g.4933046A>G | CA397316560 | CHRNE,GP1BA | c.442A>G (p.Lys148Glu) c.-888+1296T>C (n.-888+1296T>C) | |
| 17 | g.4933046A>T | CA397316559 | CHRNE,GP1BA | c.442A>T (p.Lys148Ter) c.-888+1296T>A (n.-888+1296T>A) | |
| 17 | g.4933047A>C | CA397316561 | CHRNE,GP1BA | c.443A>C (p.Lys148Thr) c.-888+1295T>G (n.-888+1295T>G) | |
| 17 | g.4933047A>G | CA397316562 | CHRNE,GP1BA | c.443A>G (p.Lys148Arg) c.-888+1295T>C (n.-888+1295T>C) | |
| 17 | g.4933047A>T | CA397316563 | CHRNE,GP1BA | c.443A>T (p.Lys148Ile) c.-888+1295T>A (n.-888+1295T>A) | |
| 17 | g.4933048A>C | CA397316565 | CHRNE,GP1BA | c.444A>C (p.Lys148Asn) c.-888+1294T>G (n.-888+1294T>G) | |
| 17 | g.4933048A>G | CA497677380 | CHRNE,GP1BA | c.444A>G (p.Lys148=) c.-888+1294T>C (n.-888+1294T>C) | |
| 17 | g.4933048A>T | CA397316567 | CHRNE,GP1BA | c.444A>T (p.Lys148Asn) c.-888+1294T>A (n.-888+1294T>A) | |
| 17 | g.4933049G>A | CA397316570 | CHRNE,GP1BA | c.445G>A (p.Gly149Ser) c.-888+1293C>T (n.-888+1293C>T) | |
| 17 | g.4933049G>C | CA397316572 | CHRNE,GP1BA | c.445G>C (p.Gly149Arg) c.-888+1293C>G (n.-888+1293C>G) | |
| 17 | g.4933049G>T | CA397316568 | CHRNE,GP1BA | c.445G>T (p.Gly149Cys) c.-888+1293C>A (n.-888+1293C>A) | |
| 17 | g.4933050G>A | CA397316574 | CHRNE,GP1BA | c.446G>A (p.Gly149Asp) c.-888+1292C>T (n.-888+1292C>T) | |
| 17 | g.4933050G>C | CA397316579 | CHRNE,GP1BA | c.446G>C (p.Gly149Ala) c.-888+1292C>G (n.-888+1292C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933050G= | CA2244625414 | CHRNE,GP1BA | c.446G= (p.Gly149=) c.-888+1292C= (n.-888+1292C=) | |
| 17 | g.4933050G>T | CA397316577 | CHRNE,GP1BA | c.446G>T (p.Gly149Val) c.-888+1292C>A (n.-888+1292C>A) | |
| 17 | g.4933051C>A | CA497677384 | CHRNE,GP1BA | c.447C>A (p.Gly149=) c.-888+1291G>T (n.-888+1291G>T) | |
| 17 | g.4933051C>G | CA497677385 | CHRNE,GP1BA | c.447C>G (p.Gly149=) c.-888+1291G>C (n.-888+1291G>C) | |
| 17 | g.4933051C>T | CA497677386 | CHRNE,GP1BA | c.447C>T (p.Gly149=) c.-888+1291G>A (n.-888+1291G>A) | |
| 17 | g.4933052A>C | CA397316581 | CHRNE,GP1BA | c.448A>C (p.Asn150His) c.-888+1290T>G (n.-888+1290T>G) | |
| 17 | g.4933052A>G | CA397316583 | CHRNE,GP1BA | c.448A>G (p.Asn150Asp) c.-888+1290T>C (n.-888+1290T>C) | |
| 17 | g.4933052A>T | CA397316585 | CHRNE,GP1BA | c.448A>T (p.Asn150Tyr) c.-888+1290T>A (n.-888+1290T>A) | |
| 17 | g.4933053A= | CA2244625415 | CHRNE,GP1BA | c.449A= (p.Asn150=) c.-888+1289T= (n.-888+1289T=) | |
| 17 | g.4933053A>C | CA397316589 | CHRNE,GP1BA | c.449A>C (p.Asn150Thr) c.-888+1289T>G (n.-888+1289T>G) | |
| 17 | g.4933053A>G | CA397316592 | CHRNE,GP1BA | c.449A>G (p.Asn150Ser) c.-888+1289T>C (n.-888+1289T>C) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933053A>T | CA397316594 | CHRNE,GP1BA | c.449A>T (p.Asn150Ile) c.-888+1289T>A (n.-888+1289T>A) | |
| 17 | g.4933054T>A | CA397316601 | CHRNE,GP1BA | c.450T>A (p.Asn150Lys) c.-888+1288A>T (n.-888+1288A>T) | |
| 17 | g.4933054T>C | CA497677390 | CHRNE,GP1BA | c.450T>C (p.Asn150=) c.-888+1288A>G (n.-888+1288A>G) | |
| 17 | g.4933054T>G | CA397316598 | CHRNE,GP1BA | c.450T>G (p.Asn150Lys) c.-888+1288A>C (n.-888+1288A>C) | |
| 17 | g.4933055G>A | CA397316603 | CHRNE,GP1BA | c.451G>A (p.Glu151Lys) c.-888+1287C>T (n.-888+1287C>T) | |
| 17 | g.4933055G>C | CA397316607 | CHRNE,GP1BA | c.451G>C (p.Glu151Gln) c.-888+1287C>G (n.-888+1287C>G) | |
| 17 | g.4933055G>T | CA397316612 | CHRNE,GP1BA | c.451G>T (p.Glu151Ter) c.-888+1287C>A (n.-888+1287C>A) | |
| 17 | g.4933056A>C | CA397316617 | CHRNE,GP1BA | c.452A>C (p.Glu151Ala) c.-888+1286T>G (n.-888+1286T>G) | |
| 17 | g.4933056A>G | CA397316618 | CHRNE,GP1BA | c.452A>G (p.Glu151Gly) c.-888+1286T>C (n.-888+1286T>C) | |
| 17 | g.4933056A>T | CA397316619 | CHRNE,GP1BA | c.452A>T (p.Glu151Val) c.-888+1286T>A (n.-888+1286T>A) | |
| 17 | g.4933057G>A | CA8314777 | CHRNE,GP1BA | c.453G>A (p.Glu151=) c.-888+1285C>T (n.-888+1285C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933057G>C | CA397316623 | CHRNE,GP1BA | c.453G>C (p.Glu151Asp) c.-888+1285C>G (n.-888+1285C>G) | |
| 17 | g.4933057G= | CA2244625416 | CHRNE,GP1BA | c.453G= (p.Glu151=) c.-888+1285C= (n.-888+1285C=) | |
| 17 | g.4933057G>T | CA397316625 | CHRNE,GP1BA | c.453G>T (p.Glu151Asp) c.-888+1285C>A (n.-888+1285C>A) | |
| 17 | g.4933058C>A | CA397316632 | CHRNE,GP1BA | c.454C>A (p.Leu152Met) c.-888+1284G>T (n.-888+1284G>T) | |
| 17 | g.4933058C>G | CA397316635 | CHRNE,GP1BA | c.454C>G (p.Leu152Val) c.-888+1284G>C (n.-888+1284G>C) | |
| 17 | g.4933058C>T | CA497677393 | CHRNE,GP1BA | c.454C>T (p.Leu152=) c.-888+1284G>A (n.-888+1284G>A) | gnomAD v4 |
| 17 | g.4933059T>A | CA397316636 | CHRNE,GP1BA | c.455T>A (p.Leu152Gln) c.-888+1283A>T (n.-888+1283A>T) | |
| 17 | g.4933059T>C | CA397316639 | CHRNE,GP1BA | c.455T>C (p.Leu152Pro) c.-888+1283A>G (n.-888+1283A>G) | |
| 17 | g.4933059T>G | CA397316643 | CHRNE,GP1BA | c.455T>G (p.Leu152Arg) c.-888+1283A>C (n.-888+1283A>C) | |
| 17 | g.4933060G>A | CA497677396 | CHRNE,GP1BA | c.456G>A (p.Leu152=) c.-888+1282C>T (n.-888+1282C>T) | gnomAD v4 |
| 17 | g.4933060G>C | CA497677398 | CHRNE,GP1BA | c.456G>C (p.Leu152=) c.-888+1282C>G (n.-888+1282C>G) | |
| 17 | g.4933060G>T | CA497677399 | CHRNE,GP1BA | c.456G>T (p.Leu152=) c.-888+1282C>A (n.-888+1282C>A) |