| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4933350G>A | CA397318410 | CHRNE,GP1BA | c.746G>A (p.Gly249Asp) c.-888+992C>T (n.-888+992C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933350G>C | CA397318412 | CHRNE,GP1BA | c.746G>C (p.Gly249Ala) c.-888+992C>G (n.-888+992C>G) | gnomAD v4 |
| 17 | g.4933350G= | CA2244625517 | CHRNE,GP1BA | c.746G= (p.Gly249=) c.-888+992C= (n.-888+992C=) | |
| 17 | g.4933350G>T | CA116659 | CHRNE,GP1BA | c.746G>T (p.Gly249Val) c.-888+992C>A (n.-888+992C>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933351T>A | CA497677438 | CHRNE,GP1BA | c.747T>A (p.Gly249=) c.-888+991A>T (n.-888+991A>T) | |
| 17 | g.4933351T>C | CA497677442 | CHRNE,GP1BA | c.747T>C (p.Gly249=) c.-888+991A>G (n.-888+991A>G) | |
| 17 | g.4933351T>G | CA497677441 | CHRNE,GP1BA | c.747T>G (p.Gly249=) c.-888+991A>C (n.-888+991A>C) | dbSNP |
| 17 | g.4933351T= | CA2244625518 | CHRNE,GP1BA | c.747T= (p.Gly249=) c.-888+991A= (n.-888+991A=) | |
| 17 | g.4933352G>A | CA287216455 | CHRNE,GP1BA | c.748G>A (p.Val250Met) c.-888+990C>T (n.-888+990C>T) | dbSNP |
| 17 | g.4933352G>C | CA397318418 | CHRNE,GP1BA | c.748G>C (p.Val250Leu) c.-888+990C>G (n.-888+990C>G) | COSMIC |
| 17 | g.4933352G= | CA2244625519 | CHRNE,GP1BA | c.748G= (p.Val250=) c.-888+990C= (n.-888+990C=) | |
| 17 | g.4933352G>T | CA397318420 | CHRNE,GP1BA | c.748G>T (p.Val250Leu) c.-888+990C>A (n.-888+990C>A) | |
| 17 | g.4933353T>A | CA397318423 | CHRNE,GP1BA | c.749T>A (p.Val250Glu) c.-888+989A>T (n.-888+989A>T) | |
| 17 | g.4933353T>C | CA397318425 | CHRNE,GP1BA | c.749T>C (p.Val250Ala) c.-888+989A>G (n.-888+989A>G) | |
| 17 | g.4933353T>G | CA397318428 | CHRNE,GP1BA | c.749T>G (p.Val250Gly) c.-888+989A>C (n.-888+989A>C) | |
| 17 | g.4933354G>A | CA497677446 | CHRNE,GP1BA | c.750G>A (p.Val250=) c.-888+988C>T (n.-888+988C>T) | dbSNP |
| 17 | g.4933354G>C | CA497677447 | CHRNE,GP1BA | c.750G>C (p.Val250=) c.-888+988C>G (n.-888+988C>G) | |
| 17 | g.4933354G= | CA2244625520 | CHRNE,GP1BA | c.750G= (p.Val250=) c.-888+988C= (n.-888+988C=) | |
| 17 | g.4933354G>T | CA497677448 | CHRNE,GP1BA | c.750G>T (p.Val250=) c.-888+988C>A (n.-888+988C>A) | |
| 17 | g.4933355G>A | CA397318432 | CHRNE,GP1BA | c.751G>A (p.Asp251Asn) c.-888+987C>T (n.-888+987C>T) | |
| 17 | g.4933355G>C | CA397318438 | CHRNE,GP1BA | c.751G>C (p.Asp251His) c.-888+987C>G (n.-888+987C>G) | |
| 17 | g.4933355G>T | CA397318430 | CHRNE,GP1BA | c.751G>T (p.Asp251Tyr) c.-888+987C>A (n.-888+987C>A) | |
| 17 | g.4933356A>C | CA397318441 | CHRNE,GP1BA | c.752A>C (p.Asp251Ala) c.-888+986T>G (n.-888+986T>G) | |
| 17 | g.4933356A>G | CA397318443 | CHRNE,GP1BA | c.752A>G (p.Asp251Gly) c.-888+986T>C (n.-888+986T>C) | |
| 17 | g.4933356A>T | CA397318445 | CHRNE,GP1BA | c.752A>T (p.Asp251Val) c.-888+986T>A (n.-888+986T>A) | |
| 17 | g.4933357C>A | CA397318448 | CHRNE,GP1BA | c.753C>A (p.Asp251Glu) c.-888+985G>T (n.-888+985G>T) | dbSNP |
| 17 | g.4933357C= | CA2244625521 | CHRNE,GP1BA | c.753C= (p.Asp251=) c.-888+985G= (n.-888+985G=) | |
| 17 | g.4933357C>G | CA397318451 | CHRNE,GP1BA | c.753C>G (p.Asp251Glu) c.-888+985G>C (n.-888+985G>C) | |
| 17 | g.4933357C>T | CA8314824 | CHRNE,GP1BA | c.753C>T (p.Asp251=) c.-888+985G>A (n.-888+985G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933358G>A | CA287216484 | CHRNE,GP1BA | c.754G>A (p.Val252Ile) c.-888+984C>T (n.-888+984C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933358G>C | CA397318460 | CHRNE,GP1BA | c.754G>C (p.Val252Leu) c.-888+984C>G (n.-888+984C>G) | |
| 17 | g.4933358G= | CA2244625522 | CHRNE,GP1BA | c.754G= (p.Val252=) c.-888+984C= (n.-888+984C=) | |
| 17 | g.4933358G>T | CA397318458 | CHRNE,GP1BA | c.754G>T (p.Val252Phe) c.-888+984C>A (n.-888+984C>A) | gnomAD v4 |
| 17 | g.4933359T>A | CA397318463 | CHRNE,GP1BA | c.755T>A (p.Val252Asp) c.-888+983A>T (n.-888+983A>T) | |
| 17 | g.4933359T>C | CA397318466 | CHRNE,GP1BA | c.755T>C (p.Val252Ala) c.-888+983A>G (n.-888+983A>G) | gnomAD v4 |
| 17 | g.4933359T>G | CA397318468 | CHRNE,GP1BA | c.755T>G (p.Val252Gly) c.-888+983A>C (n.-888+983A>C) | dbSNP |
| 17 | g.4933359T= | CA2244625523 | CHRNE,GP1BA | c.755T= (p.Val252=) c.-888+983A= (n.-888+983A=) | |
| 17 | g.4933360C>A | CA497677457 | CHRNE,GP1BA | c.756C>A (p.Val252=) c.-888+982G>T (n.-888+982G>T) | |
| 17 | g.4933360C= | CA2244625524 | CHRNE,GP1BA | c.756C= (p.Val252=) c.-888+982G= (n.-888+982G=) | |
| 17 | g.4933360C>G | CA497677458 | CHRNE,GP1BA | c.756C>G (p.Val252=) c.-888+982G>C (n.-888+982G>C) | |
| 17 | g.4933360C>T | CA8314825 | CHRNE,GP1BA | c.756C>T (p.Val252=) c.-888+982G>A (n.-888+982G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933361A>C | CA397318476 | CHRNE,GP1BA | c.757A>C (p.Lys253Gln) c.-888+981T>G (n.-888+981T>G) | |
| 17 | g.4933361A>G | CA397318474 | CHRNE,GP1BA | c.757A>G (p.Lys253Glu) c.-888+981T>C (n.-888+981T>C) | |
| 17 | g.4933361A>T | CA397318471 | CHRNE,GP1BA | c.757A>T (p.Lys253Ter) c.-888+981T>A (n.-888+981T>A) | |
| 17 | g.4933362A>C | CA397318479 | CHRNE,GP1BA | c.758A>C (p.Lys253Thr) c.-888+980T>G (n.-888+980T>G) | |
| 17 | g.4933362A>G | CA397318482 | CHRNE,GP1BA | c.758A>G (p.Lys253Arg) c.-888+980T>C (n.-888+980T>C) | |
| 17 | g.4933362A>T | CA397318484 | CHRNE,GP1BA | c.758A>T (p.Lys253Met) c.-888+980T>A (n.-888+980T>A) | |
| 17 | g.4933363G>A | CA497677465 | CHRNE,GP1BA | c.759G>A (p.Lys253=) c.-888+979C>T (n.-888+979C>T) | |
| 17 | g.4933363G>C | CA397318488 | CHRNE,GP1BA | c.759G>C (p.Lys253Asn) c.-888+979C>G (n.-888+979C>G) | |
| 17 | g.4933363G>T | CA397318489 | CHRNE,GP1BA | c.759G>T (p.Lys253Asn) c.-888+979C>A (n.-888+979C>A) | |
| 17 | g.4933364G>A | CA397318492 | CHRNE,GP1BA | c.760G>A (p.Ala254Thr) c.-888+978C>T (n.-888+978C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933364G>C | CA397318495 | CHRNE,GP1BA | c.760G>C (p.Ala254Pro) c.-888+978C>G (n.-888+978C>G) | |
| 17 | g.4933364G= | CA2244625525 | CHRNE,GP1BA | c.760G= (p.Ala254=) c.-888+978C= (n.-888+978C=) | |
| 17 | g.4933364G>T | CA287216497 | CHRNE,GP1BA | c.760G>T (p.Ala254Ser) c.-888+978C>A (n.-888+978C>A) | dbSNP |
| 17 | g.4933365C>A | CA397318501 | CHRNE,GP1BA | c.761C>A (p.Ala254Asp) c.-888+977G>T (n.-888+977G>T) | |
| 17 | g.4933365C>G | CA397318505 | CHRNE,GP1BA | c.761C>G (p.Ala254Gly) c.-888+977G>C (n.-888+977G>C) | |
| 17 | g.4933365C>T | CA397318504 | CHRNE,GP1BA | c.761C>T (p.Ala254Val) c.-888+977G>A (n.-888+977G>A) | |
| 17 | g.4933366C>A | CA497677467 | CHRNE,GP1BA | c.762C>A (p.Ala254=) c.-888+976G>T (n.-888+976G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933366C= | CA2244625526 | CHRNE,GP1BA | c.762C= (p.Ala254=) c.-888+976G= (n.-888+976G=) | |
| 17 | g.4933366C>G | CA497677469 | CHRNE,GP1BA | c.762C>G (p.Ala254=) c.-888+976G>C (n.-888+976G>C) | |
| 17 | g.4933366C>T | CA8314826 | CHRNE,GP1BA | c.762C>T (p.Ala254=) c.-888+976G>A (n.-888+976G>A) | dbSNP ExAC gnomAD v4 |
| 17 | g.4933367A= | CA2244625527 | CHRNE,GP1BA | c.763A= (p.Met255=) c.-888+975T= (n.-888+975T=) | |
| 17 | g.4933367A>C | CA397318509 | CHRNE,GP1BA | c.763A>C (p.Met255Leu) c.-888+975T>G (n.-888+975T>G) | |
| 17 | g.4933367A>G | CA116661 | CHRNE,GP1BA | c.763A>G (p.Met255Val) c.-888+975T>C (n.-888+975T>C) | ClinVar dbSNP |
| 17 | g.4933367A>T | CA397318512 | CHRNE,GP1BA | c.763A>T (p.Met255Leu) c.-888+975T>A (n.-888+975T>A) | |
| 17 | g.4933368T>A | CA397318515 | CHRNE,GP1BA | c.764T>A (p.Met255Lys) c.-888+974A>T (n.-888+974A>T) | |
| 17 | g.4933368T>C | CA397318520 | CHRNE,GP1BA | c.764T>C (p.Met255Thr) c.-888+974A>G (n.-888+974A>G) | gnomAD v4 |
| 17 | g.4933368T>G | CA397318518 | CHRNE,GP1BA | c.764T>G (p.Met255Arg) c.-888+974A>C (n.-888+974A>C) | |
| 17 | g.4933369G>A | CA397318522 | CHRNE,GP1BA | c.765G>A (p.Met255Ile) c.-888+973C>T (n.-888+973C>T) | gnomAD v4 |
| 17 | g.4933369G>C | CA397318525 | CHRNE,GP1BA | c.765G>C (p.Met255Ile) c.-888+973C>G (n.-888+973C>G) | |
| 17 | g.4933369G>T | CA397318528 | CHRNE,GP1BA | c.765G>T (p.Met255Ile) c.-888+973C>A (n.-888+973C>A) | |
| 17 | g.4933370A= | CA2244625528 | CHRNE,GP1BA | c.766A= (p.Thr256=) c.-888+972T= (n.-888+972T=) | |
| 17 | g.4933370A>C | CA397318531 | CHRNE,GP1BA | c.766A>C (p.Thr256Pro) c.-888+972T>G (n.-888+972T>G) | dbSNP |
| 17 | g.4933370A>G | CA397318532 | CHRNE,GP1BA | c.766A>G (p.Thr256Ala) c.-888+972T>C (n.-888+972T>C) | |
| 17 | g.4933370A>T | CA397318534 | CHRNE,GP1BA | c.766A>T (p.Thr256Ser) c.-888+972T>A (n.-888+972T>A) | |
| 17 | g.4933371C>A | CA397318536 | CHRNE,GP1BA | c.767C>A (p.Thr256Asn) c.-888+971G>T (n.-888+971G>T) | dbSNP |
| 17 | g.4933371C= | CA2244625529 | CHRNE,GP1BA | c.767C= (p.Thr256=) c.-888+971G= (n.-888+971G=) | |
| 17 | g.4933371C>G | CA397318539 | CHRNE,GP1BA | c.767C>G (p.Thr256Ser) c.-888+971G>C (n.-888+971G>C) | |
| 17 | g.4933371C>T | CA397318542 | CHRNE,GP1BA | c.767C>T (p.Thr256Ile) c.-888+971G>A (n.-888+971G>A) | gnomAD v4 |
| 17 | g.4933372C>A | CA497677473 | CHRNE,GP1BA | c.768C>A (p.Thr256=) c.-888+970G>T (n.-888+970G>T) | |
| 17 | g.4933372C>G | CA497677474 | CHRNE,GP1BA | c.768C>G (p.Thr256=) c.-888+970G>C (n.-888+970G>C) | gnomAD v4 |
| 17 | g.4933372C>T | CA497677475 | CHRNE,GP1BA | c.768C>T (p.Thr256=) c.-888+970G>A (n.-888+970G>A) | dbSNP |
| 17 | g.4933373T>A | CA397318544 | CHRNE,GP1BA | c.769T>A (p.Ser257Thr) c.-888+969A>T (n.-888+969A>T) | |
| 17 | g.4933373T>C | CA397318545 | CHRNE,GP1BA | c.769T>C (p.Ser257Pro) c.-888+969A>G (n.-888+969A>G) | |
| 17 | g.4933373T>G | CA397318547 | CHRNE,GP1BA | c.769T>G (p.Ser257Ala) c.-888+969A>C (n.-888+969A>C) | |
| 17 | g.4933374C>A | CA397318553 | CHRNE,GP1BA | c.770C>A (p.Ser257Tyr) c.-888+968G>T (n.-888+968G>T) | |
| 17 | g.4933374C>G | CA397318550 | CHRNE,GP1BA | c.770C>G (p.Ser257Cys) c.-888+968G>C (n.-888+968G>C) | |
| 17 | g.4933374C>T | CA397318549 | CHRNE,GP1BA | c.770C>T (p.Ser257Phe) c.-888+968G>A (n.-888+968G>A) | COSMIC |
| 17 | g.4933375T>A | CA497677477 | CHRNE,GP1BA | c.771T>A (p.Ser257=) c.-888+967A>T (n.-888+967A>T) | dbSNP |
| 17 | g.4933375T>C | CA497677478 | CHRNE,GP1BA | c.771T>C (p.Ser257=) c.-888+967A>G (n.-888+967A>G) | |
| 17 | g.4933375T>G | CA497677479 | CHRNE,GP1BA | c.771T>G (p.Ser257=) c.-888+967A>C (n.-888+967A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933375T= | CA2244625530 | CHRNE,GP1BA | c.771T= (p.Ser257=) c.-888+967A= (n.-888+967A=) | |
| 17 | g.4933376A>C | CA397318554 | CHRNE,GP1BA | c.772A>C (p.Asn258His) c.-888+966T>G (n.-888+966T>G) | |
| 17 | g.4933376A>G | CA397318558 | CHRNE,GP1BA | c.772A>G (p.Asn258Asp) c.-888+966T>C (n.-888+966T>C) | |
| 17 | g.4933376A>T | CA397318556 | CHRNE,GP1BA | c.772A>T (p.Asn258Tyr) c.-888+966T>A (n.-888+966T>A) | |
| 17 | g.4933377A>C | CA397318561 | CHRNE,GP1BA | c.773A>C (p.Asn258Thr) c.-888+965T>G (n.-888+965T>G) | |
| 17 | g.4933377A>G | CA397318565 | CHRNE,GP1BA | c.773A>G (p.Asn258Ser) c.-888+965T>C (n.-888+965T>C) | |
| 17 | g.4933377A>T | CA397318562 | CHRNE,GP1BA | c.773A>T (p.Asn258Ile) c.-888+965T>A (n.-888+965T>A) | |
| 17 | g.4933378C>A | CA397318566 | CHRNE,GP1BA | c.774C>A (p.Asn258Lys) c.-888+964G>T (n.-888+964G>T) | |
| 17 | g.4933378C= | CA2244625531 | CHRNE,GP1BA | c.774C= (p.Asn258=) c.-888+964G= (n.-888+964G=) | |
| 17 | g.4933378C>G | CA397318570 | CHRNE,GP1BA | c.774C>G (p.Asn258Lys) c.-888+964G>C (n.-888+964G>C) | |
| 17 | g.4933378C>T | CA8314827 | CHRNE,GP1BA | c.774C>T (p.Asn258=) c.-888+964G>A (n.-888+964G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933379G>A | CA8314828 | CHRNE,GP1BA | c.775G>A (p.Val259Met) c.-888+963C>T (n.-888+963C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933379G>C | CA8314829 | CHRNE,GP1BA | c.775G>C (p.Val259Leu) c.-888+963C>G (n.-888+963C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933379G= | CA2244625532 | CHRNE,GP1BA | c.775G= (p.Val259=) c.-888+963C= (n.-888+963C=) | |
| 17 | g.4933379G>T | CA397318574 | CHRNE,GP1BA | c.775G>T (p.Val259Leu) c.-888+963C>A (n.-888+963C>A) | |
| 17 | g.4933380T>A | CA397318580 | CHRNE,GP1BA | c.776T>A (p.Val259Glu) c.-888+962A>T (n.-888+962A>T) | |
| 17 | g.4933380T>C | CA397318582 | CHRNE,GP1BA | c.776T>C (p.Val259Ala) c.-888+962A>G (n.-888+962A>G) | |
| 17 | g.4933380T>G | CA397318585 | CHRNE,GP1BA | c.776T>G (p.Val259Gly) c.-888+962A>C (n.-888+962A>C) | |
| 17 | g.4933380T= | CA2244625533 | CHRNE,GP1BA | c.776T= (p.Val259=) c.-888+962A= (n.-888+962A=) | |
| 17 | g.4933381G>A | CA287216544 | CHRNE,GP1BA | c.777G>A (p.Val259=) c.-888+961C>T (n.-888+961C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933381G>C | CA497677488 | CHRNE,GP1BA | c.777G>C (p.Val259=) c.-888+961C>G (n.-888+961C>G) | |
| 17 | g.4933381G= | CA2244625534 | CHRNE,GP1BA | c.777G= (p.Val259=) c.-888+961C= (n.-888+961C=) | |
| 17 | g.4933381G>T | CA497677489 | CHRNE,GP1BA | c.777G>T (p.Val259=) c.-888+961C>A (n.-888+961C>A) | |
| 17 | g.4933382dup | CA287216529 | CHRNE,GP1BA | c.778dup (p.Ala260GlyfsTer6) c.-888+961dup (n.-888+961dup) | dbSNP |
| 17 | g.4933382G>A | CA397318591 | CHRNE,GP1BA | c.778G>A (p.Ala260Thr) c.-888+960C>T (n.-888+960C>T) | COSMIC |
| 17 | g.4933382G>C | CA397318593 | CHRNE,GP1BA | c.778G>C (p.Ala260Pro) c.-888+960C>G (n.-888+960C>G) | |
| 17 | g.4933382G>T | CA397318596 | CHRNE,GP1BA | c.778G>T (p.Ala260Ser) c.-888+960C>A (n.-888+960C>A) | |
| 17 | g.4933383C>A | CA397318598 | CHRNE,GP1BA | c.779C>A (p.Ala260Asp) c.-888+959G>T (n.-888+959G>T) | gnomAD v4 |
| 17 | g.4933383C>G | CA397318600 | CHRNE,GP1BA | c.779C>G (p.Ala260Gly) c.-888+959G>C (n.-888+959G>C) | |
| 17 | g.4933383C>T | CA397318601 | CHRNE,GP1BA | c.779C>T (p.Ala260Val) c.-888+959G>A (n.-888+959G>A) | |
| 17 | g.4933384C>A | CA497677492 | CHRNE,GP1BA | c.780C>A (p.Ala260=) c.-888+958G>T (n.-888+958G>T) | |
| 17 | g.4933384C>G | CA497677494 | CHRNE,GP1BA | c.780C>G (p.Ala260=) c.-888+958G>C (n.-888+958G>C) | |
| 17 | g.4933384C>T | CA497677495 | CHRNE,GP1BA | c.780C>T (p.Ala260=) c.-888+958G>A (n.-888+958G>A) | |
| 17 | g.4933385A>C | CA397318605 | CHRNE,GP1BA | c.781A>C (p.Ser261Arg) c.-888+957T>G (n.-888+957T>G) | |
| 17 | g.4933385A>G | CA397318604 | CHRNE,GP1BA | c.781A>G (p.Ser261Gly) c.-888+957T>C (n.-888+957T>C) | |
| 17 | g.4933385A>T | CA397318603 | CHRNE,GP1BA | c.781A>T (p.Ser261Cys) c.-888+957T>A (n.-888+957T>A) | |
| 17 | g.4933386G>A | CA397318606 | CHRNE,GP1BA | c.782G>A (p.Ser261Asn) c.-888+956C>T (n.-888+956C>T) | |
| 17 | g.4933386G>C | CA397318607 | CHRNE,GP1BA | c.782G>C (p.Ser261Thr) c.-888+956C>G (n.-888+956C>G) | |
| 17 | g.4933386G>T | CA397318608 | CHRNE,GP1BA | c.782G>T (p.Ser261Ile) c.-888+956C>A (n.-888+956C>A) | |
| 17 | g.4933387T>A | CA397318610 | CHRNE,GP1BA | c.783T>A (p.Ser261Arg) c.-888+955A>T (n.-888+955A>T) | gnomAD v4 |
| 17 | g.4933387T>C | CA497677497 | CHRNE,GP1BA | c.783T>C (p.Ser261=) c.-888+955A>G (n.-888+955A>G) | dbSNP gnomAD v4 |
| 17 | g.4933387T>G | CA397318611 | CHRNE,GP1BA | c.783T>G (p.Ser261Arg) c.-888+955A>C (n.-888+955A>C) | |
| 17 | g.4933387T= | CA2244625535 | CHRNE,GP1BA | c.783T= (p.Ser261=) c.-888+955A= (n.-888+955A=) | |
| 17 | g.4933388G>A | CA397318612 | CHRNE,GP1BA | c.784G>A (p.Val262Met) c.-888+954C>T (n.-888+954C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933388G>C | CA397318613 | CHRNE,GP1BA | c.784G>C (p.Val262Leu) c.-888+954C>G (n.-888+954C>G) | |
| 17 | g.4933388G= | CA2244625536 | CHRNE,GP1BA | c.784G= (p.Val262=) c.-888+954C= (n.-888+954C=) | |
| 17 | g.4933388G>T | CA397318615 | CHRNE,GP1BA | c.784G>T (p.Val262Leu) c.-888+954C>A (n.-888+954C>A) | |
| 17 | g.4933389T>A | CA397318619 | CHRNE,GP1BA | c.785T>A (p.Val262Glu) c.-888+953A>T (n.-888+953A>T) | |
| 17 | g.4933389T>C | CA397318620 | CHRNE,GP1BA | c.785T>C (p.Val262Ala) c.-888+953A>G (n.-888+953A>G) | dbSNP gnomAD v4 |
| 17 | g.4933389T>G | CA397318622 | CHRNE,GP1BA | c.785T>G (p.Val262Gly) c.-888+953A>C (n.-888+953A>C) | |
| 17 | g.4933389T= | CA2244625537 | CHRNE,GP1BA | c.785T= (p.Val262=) c.-888+953A= (n.-888+953A=) | |
| 17 | g.4933390G>A | CA497677501 | CHRNE,GP1BA | c.786G>A (p.Val262=) c.-888+952C>T (n.-888+952C>T) | |
| 17 | g.4933390G>C | CA497677502 | CHRNE,GP1BA | c.786G>C (p.Val262=) c.-888+952C>G (n.-888+952C>G) | gnomAD v4 |
| 17 | g.4933390G>T | CA497677504 | CHRNE,GP1BA | c.786G>T (p.Val262=) c.-888+952C>A (n.-888+952C>A) | |
| 17 | g.4933391C>A | CA397318634 | CHRNE,GP1BA | c.787C>A (p.Gln263Lys) c.-888+951G>T (n.-888+951G>T) | dbSNP gnomAD v4 |
| 17 | g.4933391C= | CA2244625538 | CHRNE,GP1BA | c.787C= (p.Gln263=) c.-888+951G= (n.-888+951G=) | |
| 17 | g.4933391C>G | CA397318631 | CHRNE,GP1BA | c.787C>G (p.Gln263Glu) c.-888+951G>C (n.-888+951G>C) | |
| 17 | g.4933391C>T | CA397318626 | CHRNE,GP1BA | c.787C>T (p.Gln263Ter) c.-888+951G>A (n.-888+951G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933392A= | CA2244625539 | CHRNE,GP1BA | c.788A= (p.Gln263=) c.-888+950T= (n.-888+950T=) | |
| 17 | g.4933392A>C | CA397318638 | CHRNE,GP1BA | c.788A>C (p.Gln263Pro) c.-888+950T>G (n.-888+950T>G) | dbSNP |
| 17 | g.4933392A>G | CA8314830 | CHRNE,GP1BA | c.788A>G (p.Gln263Arg) c.-888+950T>C (n.-888+950T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933392A>T | CA397318643 | CHRNE,GP1BA | c.788A>T (p.Gln263Leu) c.-888+950T>A (n.-888+950T>A) | |
| 17 | g.4933393G>A | CA8314831 | CHRNE,GP1BA | c.789G>A (p.Gln263=) c.-888+949C>T (n.-888+949C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933393G>C | CA397318647 | CHRNE,GP1BA | c.789G>C (p.Gln263His) c.-888+949C>G (n.-888+949C>G) | |
| 17 | g.4933393G= | CA2244625540 | CHRNE,GP1BA | c.789G= (p.Gln263=) c.-888+949C= (n.-888+949C=) | |
| 17 | g.4933393G>T | CA397318650 | CHRNE,GP1BA | c.789G>T (p.Gln263His) c.-888+949C>A (n.-888+949C>A) | |
| 17 | g.4933394T>A | CA397318653 | CHRNE,GP1BA | c.790T>A (p.Cys264Ser) c.-888+948A>T (n.-888+948A>T) | |
| 17 | g.4933394T>C | CA397318655 | CHRNE,GP1BA | c.790T>C (p.Cys264Arg) c.-888+948A>G (n.-888+948A>G) | |
| 17 | g.4933394T>G | CA397318658 | CHRNE,GP1BA | c.790T>G (p.Cys264Gly) c.-888+948A>C (n.-888+948A>C) | |
| 17 | g.4933395G>A | CA397318661 | CHRNE,GP1BA | c.791G>A (p.Cys264Tyr) c.-888+947C>T (n.-888+947C>T) | |
| 17 | g.4933395G>C | CA397318663 | CHRNE,GP1BA | c.791G>C (p.Cys264Ser) c.-888+947C>G (n.-888+947C>G) | |
| 17 | g.4933395G>T | CA397318665 | CHRNE,GP1BA | c.791G>T (p.Cys264Phe) c.-888+947C>A (n.-888+947C>A) | |
| 17 | g.4933396T>A | CA397318668 | CHRNE,GP1BA | c.792T>A (p.Cys264Ter) c.-888+946A>T (n.-888+946A>T) | dbSNP |
| 17 | g.4933396T>C | CA497677510 | CHRNE,GP1BA | c.792T>C (p.Cys264=) c.-888+946A>G (n.-888+946A>G) | |
| 17 | g.4933396T>G | CA397318666 | CHRNE,GP1BA | c.792T>G (p.Cys264Trp) c.-888+946A>C (n.-888+946A>C) | |
| 17 | g.4933396T= | CA2244625541 | CHRNE,GP1BA | c.792T= (p.Cys264=) c.-888+946A= (n.-888+946A=) | |
| 17 | g.4933397G>A | CA8314832 | CHRNE,GP1BA | c.793G>A (p.Asp265Asn) c.-888+945C>T (n.-888+945C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933397G>C | CA397318672 | CHRNE,GP1BA | c.793G>C (p.Asp265His) c.-888+945C>G (n.-888+945C>G) | |
| 17 | g.4933397G= | CA2244625542 | CHRNE,GP1BA | c.793G= (p.Asp265=) c.-888+945C= (n.-888+945C=) | |
| 17 | g.4933397G>T | CA397318673 | CHRNE,GP1BA | c.793G>T (p.Asp265Tyr) c.-888+945C>A (n.-888+945C>A) | ClinVar dbSNP |
| 17 | g.4933398A>C | CA397318675 | CHRNE,GP1BA | c.794A>C (p.Asp265Ala) c.-888+944T>G (n.-888+944T>G) | |
| 17 | g.4933398A>G | CA397318677 | CHRNE,GP1BA | c.794A>G (p.Asp265Gly) c.-888+944T>C (n.-888+944T>C) | |
| 17 | g.4933398A>T | CA397318679 | CHRNE,GP1BA | c.794A>T (p.Asp265Val) c.-888+944T>A (n.-888+944T>A) | |
| 17 | g.4933399C>A | CA397318682 | CHRNE,GP1BA | c.795C>A (p.Asp265Glu) c.-888+943G>T (n.-888+943G>T) | gnomAD v4 |
| 17 | g.4933399C= | CA2244625543 | CHRNE,GP1BA | c.795C= (p.Asp265=) c.-888+943G= (n.-888+943G=) | |
| 17 | g.4933399C>G | CA397318684 | CHRNE,GP1BA | c.795C>G (p.Asp265Glu) c.-888+943G>C (n.-888+943G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933399C>T | CA8314833 | CHRNE,GP1BA | c.795C>T (p.Asp265=) c.-888+943G>A (n.-888+943G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933400A= | CA2244625544 | CHRNE,GP1BA | c.796A= (p.Asn266=) c.-888+942T= (n.-888+942T=) | |
| 17 | g.4933400A>C | CA397318687 | CHRNE,GP1BA | c.796A>C (p.Asn266His) c.-888+942T>G (n.-888+942T>G) | |
| 17 | g.4933400A>G | CA397318689 | CHRNE,GP1BA | c.796A>G (p.Asn266Asp) c.-888+942T>C (n.-888+942T>C) | |
| 17 | g.4933400A>T | CA8314834 | CHRNE,GP1BA | c.796A>T (p.Asn266Tyr) c.-888+942T>A (n.-888+942T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933401A= | CA2244625545 | CHRNE,GP1BA | c.797A= (p.Asn266=) c.-888+941T= (n.-888+941T=) | |
| 17 | g.4933401A>C | CA397318694 | CHRNE,GP1BA | c.797A>C (p.Asn266Thr) c.-888+941T>G (n.-888+941T>G) | |
| 17 | g.4933401A>G | CA8314835 | CHRNE,GP1BA | c.797A>G (p.Asn266Ser) c.-888+941T>C (n.-888+941T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933401A>T | CA397318692 | CHRNE,GP1BA | c.797A>T (p.Asn266Ile) c.-888+941T>A (n.-888+941T>A) | dbSNP |
| 17 | g.4933402T>A | CA397318696 | CHRNE,GP1BA | c.798T>A (p.Asn266Lys) c.-888+940A>T (n.-888+940A>T) | |
| 17 | g.4933402T>C | CA497677518 | CHRNE,GP1BA | c.798T>C (p.Asn266=) c.-888+940A>G (n.-888+940A>G) | |
| 17 | g.4933402T>G | CA397318698 | CHRNE,GP1BA | c.798T>G (p.Asn266Lys) c.-888+940A>C (n.-888+940A>C) | |
| 17 | g.4933403T>A | CA397318702 | CHRNE,GP1BA | c.799T>A (p.Ser267Thr) c.-888+939A>T (n.-888+939A>T) | |
| 17 | g.4933403T>C | CA397318704 | CHRNE,GP1BA | c.799T>C (p.Ser267Pro) c.-888+939A>G (n.-888+939A>G) | |
| 17 | g.4933403T>G | CA397318706 | CHRNE,GP1BA | c.799T>G (p.Ser267Ala) c.-888+939A>C (n.-888+939A>C) | |
| 17 | g.4933404C>A | CA397318709 | CHRNE,GP1BA | c.800C>A (p.Ser267Ter) c.-888+938G>T (n.-888+938G>T) | |
| 17 | g.4933404C>G | CA397318711 | CHRNE,GP1BA | c.800C>G (p.Ser267Ter) c.-888+938G>C (n.-888+938G>C) | |
| 17 | g.4933404C>T | CA397318713 | CHRNE,GP1BA | c.800C>T (p.Ser267Leu) c.-888+938G>A (n.-888+938G>A) | COSMIC |
| 17 | g.4933405A>C | CA497677523 | CHRNE,GP1BA | c.801A>C (p.Ser267=) c.-888+937T>G (n.-888+937T>G) | gnomAD v4 |
| 17 | g.4933405A>G | CA497677526 | CHRNE,GP1BA | c.801A>G (p.Ser267=) c.-888+937T>C (n.-888+937T>C) | |
| 17 | g.4933405A>T | CA497677524 | CHRNE,GP1BA | c.801A>T (p.Ser267=) c.-888+937T>A (n.-888+937T>A) | |
| 17 | g.4933406G>A | CA8314836 | CHRNE,GP1BA | c.802G>A (p.Asp268Asn) c.-888+936C>T (n.-888+936C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933406G>C | CA8314837 | CHRNE,GP1BA | c.802G>C (p.Asp268His) c.-888+936C>G (n.-888+936C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933406G= | CA2244625546 | CHRNE,GP1BA | c.802G= (p.Asp268=) c.-888+936C= (n.-888+936C=) | |
| 17 | g.4933406G>T | CA397318718 | CHRNE,GP1BA | c.802G>T (p.Asp268Tyr) c.-888+936C>A (n.-888+936C>A) | |
| 17 | g.4933407A>C | CA397318721 | CHRNE,GP1BA | c.803A>C (p.Asp268Ala) c.-888+935T>G (n.-888+935T>G) | |
| 17 | g.4933407A>G | CA397318724 | CHRNE,GP1BA | c.803A>G (p.Asp268Gly) c.-888+935T>C (n.-888+935T>C) | |
| 17 | g.4933407A>T | CA397318725 | CHRNE,GP1BA | c.803A>T (p.Asp268Val) c.-888+935T>A (n.-888+935T>A) | |
| 17 | g.4933408C>A | CA397318728 | CHRNE,GP1BA | c.804C>A (p.Asp268Glu) c.-888+934G>T (n.-888+934G>T) | gnomAD v4 |
| 17 | g.4933408C>G | CA397318729 | CHRNE,GP1BA | c.804C>G (p.Asp268Glu) c.-888+934G>C (n.-888+934G>C) | |
| 17 | g.4933408C>T | CA497677533 | CHRNE,GP1BA | c.804C>T (p.Asp268=) c.-888+934G>A (n.-888+934G>A) | |
| 17 | g.4933409A>C | CA397318732 | CHRNE,GP1BA | c.805A>C (p.Lys269Gln) c.-888+933T>G (n.-888+933T>G) | |
| 17 | g.4933409A>G | CA397318734 | CHRNE,GP1BA | c.805A>G (p.Lys269Glu) c.-888+933T>C (n.-888+933T>C) | |
| 17 | g.4933409A>T | CA397318736 | CHRNE,GP1BA | c.805A>T (p.Lys269Ter) c.-888+933T>A (n.-888+933T>A) | |
| 17 | g.4933410A= | CA2244625547 | CHRNE,GP1BA | c.806A= (p.Lys269=) c.-888+932T= (n.-888+932T=) | |
| 17 | g.4933410A>C | CA397318739 | CHRNE,GP1BA | c.806A>C (p.Lys269Thr) c.-888+932T>G (n.-888+932T>G) | |
| 17 | g.4933410A>G | CA8314838 | CHRNE,GP1BA | c.806A>G (p.Lys269Arg) c.-888+932T>C (n.-888+932T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933410A>T | CA397318741 | CHRNE,GP1BA | c.806A>T (p.Lys269Met) c.-888+932T>A (n.-888+932T>A) | |
| 17 | g.4933411G>A | CA497677537 | CHRNE,GP1BA | c.807G>A (p.Lys269=) c.-888+931C>T (n.-888+931C>T) | |
| 17 | g.4933411G>C | CA397318743 | CHRNE,GP1BA | c.807G>C (p.Lys269Asn) c.-888+931C>G (n.-888+931C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933411G= | CA2244625548 | CHRNE,GP1BA | c.807G= (p.Lys269=) c.-888+931C= (n.-888+931C=) | |
| 17 | g.4933411G>T | CA397318744 | CHRNE,GP1BA | c.807G>T (p.Lys269Asn) c.-888+931C>A (n.-888+931C>A) | |
| 17 | g.4933412T>A | CA8314839 | CHRNE,GP1BA | c.808T>A (p.Phe270Ile) c.-888+930A>T (n.-888+930A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933412T>C | CA8314840 | CHRNE,GP1BA | c.808T>C (p.Phe270Leu) c.-888+930A>G (n.-888+930A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933412T>G | CA397318750 | CHRNE,GP1BA | c.808T>G (p.Phe270Val) c.-888+930A>C (n.-888+930A>C) | |
| 17 | g.4933412T= | CA2244625549 | CHRNE,GP1BA | c.808T= (p.Phe270=) c.-888+930A= (n.-888+930A=) | |
| 17 | g.4933413T>A | CA397318757 | CHRNE,GP1BA | c.809T>A (p.Phe270Tyr) c.-888+929A>T (n.-888+929A>T) | |
| 17 | g.4933413T>C | CA397318758 | CHRNE,GP1BA | c.809T>C (p.Phe270Ser) c.-888+929A>G (n.-888+929A>G) | |
| 17 | g.4933413T>G | CA397318754 | CHRNE,GP1BA | c.809T>G (p.Phe270Cys) c.-888+929A>C (n.-888+929A>C) | |
| 17 | g.4933414T>A | CA397318760 | CHRNE,GP1BA | c.810T>A (p.Phe270Leu) c.-888+928A>T (n.-888+928A>T) | |
| 17 | g.4933414T>C | CA497677542 | CHRNE,GP1BA | c.810T>C (p.Phe270=) c.-888+928A>G (n.-888+928A>G) | |
| 17 | g.4933414T>G | CA397318763 | CHRNE,GP1BA | c.810T>G (p.Phe270Leu) c.-888+928A>C (n.-888+928A>C) | |
| 17 | g.4933415C>A | CA397318771 | CHRNE,GP1BA | c.811C>A (p.Pro271Thr) c.-888+927G>T (n.-888+927G>T) | |
| 17 | g.4933415C>G | CA397318773 | CHRNE,GP1BA | c.811C>G (p.Pro271Ala) c.-888+927G>C (n.-888+927G>C) | gnomAD v4 |
| 17 | g.4933415C>T | CA397318776 | CHRNE,GP1BA | c.811C>T (p.Pro271Ser) c.-888+927G>A (n.-888+927G>A) | |
| 17 | g.4933416C>A | CA397318779 | CHRNE,GP1BA | c.812C>A (p.Pro271His) c.-888+926G>T (n.-888+926G>T) | |
| 17 | g.4933416C>G | CA397318780 | CHRNE,GP1BA | c.812C>G (p.Pro271Arg) c.-888+926G>C (n.-888+926G>C) | |
| 17 | g.4933416C>T | CA397318783 | CHRNE,GP1BA | c.812C>T (p.Pro271Leu) c.-888+926G>A (n.-888+926G>A) | |
| 17 | g.4933417C>A | CA497677548 | CHRNE,GP1BA | c.813C>A (p.Pro271=) c.-888+925G>T (n.-888+925G>T) | |
| 17 | g.4933417C= | CA2244625550 | CHRNE,GP1BA | c.813C= (p.Pro271=) c.-888+925G= (n.-888+925G=) | |
| 17 | g.4933417C>G | CA497677549 | CHRNE,GP1BA | c.813C>G (p.Pro271=) c.-888+925G>C (n.-888+925G>C) | |
| 17 | g.4933417C>T | CA8314841 | CHRNE,GP1BA | c.813C>T (p.Pro271=) c.-888+925G>A (n.-888+925G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933418G>A | CA8314842 | CHRNE,GP1BA | c.814G>A (p.Val272Ile) c.-888+924C>T (n.-888+924C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933418G>C | CA397318790 | CHRNE,GP1BA | c.814G>C (p.Val272Leu) c.-888+924C>G (n.-888+924C>G) | |
| 17 | g.4933418G= | CA2244625551 | CHRNE,GP1BA | c.814G= (p.Val272=) c.-888+924C= (n.-888+924C=) | |
| 17 | g.4933418G>T | CA397318792 | CHRNE,GP1BA | c.814G>T (p.Val272Phe) c.-888+924C>A (n.-888+924C>A) | |
| 17 | g.4933419T>A | CA397318797 | CHRNE,GP1BA | c.815T>A (p.Val272Asp) c.-888+923A>T (n.-888+923A>T) | |
| 17 | g.4933419T>C | CA397318800 | CHRNE,GP1BA | c.815T>C (p.Val272Ala) c.-888+923A>G (n.-888+923A>G) | gnomAD v4 |
| 17 | g.4933419T>G | CA397318795 | CHRNE,GP1BA | c.815T>G (p.Val272Gly) c.-888+923A>C (n.-888+923A>C) | |
| 17 | g.4933420C>A | CA497677555 | CHRNE,GP1BA | c.816C>A (p.Val272=) c.-888+922G>T (n.-888+922G>T) | |
| 17 | g.4933420C>G | CA497677552 | CHRNE,GP1BA | c.816C>G (p.Val272=) c.-888+922G>C (n.-888+922G>C) | |
| 17 | g.4933420C>T | CA497677553 | CHRNE,GP1BA | c.816C>T (p.Val272=) c.-888+922G>A (n.-888+922G>A) | |
| 17 | g.4933421T>A | CA397318803 | CHRNE,GP1BA | c.817T>A (p.Tyr273Asn) c.-888+921A>T (n.-888+921A>T) | |
| 17 | g.4933421T>C | CA397318804 | CHRNE,GP1BA | c.817T>C (p.Tyr273His) c.-888+921A>G (n.-888+921A>G) | |
| 17 | g.4933421T>G | CA397318806 | CHRNE,GP1BA | c.817T>G (p.Tyr273Asp) c.-888+921A>C (n.-888+921A>C) | |
| 17 | g.4933422A>C | CA397318809 | CHRNE,GP1BA | c.818A>C (p.Tyr273Ser) c.-888+920T>G (n.-888+920T>G) | |
| 17 | g.4933422A>G | CA397318811 | CHRNE,GP1BA | c.818A>G (p.Tyr273Cys) c.-888+920T>C (n.-888+920T>C) | |
| 17 | g.4933422A>T | CA397318814 | CHRNE,GP1BA | c.818A>T (p.Tyr273Phe) c.-888+920T>A (n.-888+920T>A) | |
| 17 | g.4933423C>A | CA397318817 | CHRNE,GP1BA | c.819C>A (p.Tyr273Ter) c.-888+919G>T (n.-888+919G>T) | |
| 17 | g.4933423C= | CA2244625552 | CHRNE,GP1BA | c.819C= (p.Tyr273=) c.-888+919G= (n.-888+919G=) | |
| 17 | g.4933423C>G | CA397318818 | CHRNE,GP1BA | c.819C>G (p.Tyr273Ter) c.-888+919G>C (n.-888+919G>C) | |
| 17 | g.4933423C>T | CA497677559 | CHRNE,GP1BA | c.819C>T (p.Tyr273=) c.-888+919G>A (n.-888+919G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933424A>C | CA397318820 | CHRNE,GP1BA | c.820A>C (p.Lys274Gln) c.-888+918T>G (n.-888+918T>G) | |
| 17 | g.4933424A>G | CA397318823 | CHRNE,GP1BA | c.820A>G (p.Lys274Glu) c.-888+918T>C (n.-888+918T>C) | dbSNP |
| 17 | g.4933424A>T | CA397318826 | CHRNE,GP1BA | c.820A>T (p.Lys274Ter) c.-888+918T>A (n.-888+918T>A) | |
| 17 | g.4933426del | CA2635578885 | CHRNE,GP1BA | c.822del (p.Lys274AsnfsTer?) c.-888+918del (n.-888+918del) | gnomAD v4 |
| 17 | g.4933425A>C | CA397318833 | CHRNE,GP1BA | c.821A>C (p.Lys274Thr) c.-888+917T>G (n.-888+917T>G) | |
| 17 | g.4933425A>G | CA397318836 | CHRNE,GP1BA | c.821A>G (p.Lys274Arg) c.-888+917T>C (n.-888+917T>C) | |
| 17 | g.4933425A>T | CA397318838 | CHRNE,GP1BA | c.821A>T (p.Lys274Ile) c.-888+917T>A (n.-888+917T>A) | |
| 17 | g.4933426A>C | CA397318843 | CHRNE,GP1BA | c.822A>C (p.Lys274Asn) c.-888+916T>G (n.-888+916T>G) | |
| 17 | g.4933426A>G | CA497677567 | CHRNE,GP1BA | c.822A>G (p.Lys274=) c.-888+916T>C (n.-888+916T>C) | |
| 17 | g.4933426A>T | CA397318841 | CHRNE,GP1BA | c.822A>T (p.Lys274Asn) c.-888+916T>A (n.-888+916T>A) | |
| 17 | g.4933427T>A | CA397318846 | CHRNE,GP1BA | c.823T>A (p.Tyr275Asn) c.-888+915A>T (n.-888+915A>T) | |
| 17 | g.4933427T>C | CA397318851 | CHRNE,GP1BA | c.823T>C (p.Tyr275His) c.-888+915A>G (n.-888+915A>G) | gnomAD v4 |
| 17 | g.4933427T>G | CA397318848 | CHRNE,GP1BA | c.823T>G (p.Tyr275Asp) c.-888+915A>C (n.-888+915A>C) | |
| 17 | g.4933428A>C | CA397318854 | CHRNE,GP1BA | c.824A>C (p.Tyr275Ser) c.-888+914T>G (n.-888+914T>G) | |
| 17 | g.4933428A>G | CA397318856 | CHRNE,GP1BA | c.824A>G (p.Tyr275Cys) c.-888+914T>C (n.-888+914T>C) | |
| 17 | g.4933428A>T | CA397318858 | CHRNE,GP1BA | c.824A>T (p.Tyr275Phe) c.-888+914T>A (n.-888+914T>A) | |
| 17 | g.4933429C>A | CA397318861 | CHRNE,GP1BA | c.825C>A (p.Tyr275Ter) c.-888+913G>T (n.-888+913G>T) | |
| 17 | g.4933429C>G | CA397318864 | CHRNE,GP1BA | c.825C>G (p.Tyr275Ter) c.-888+913G>C (n.-888+913G>C) | |
| 17 | g.4933429C>T | CA497677569 | CHRNE,GP1BA | c.825C>T (p.Tyr275=) c.-888+913G>A (n.-888+913G>A) | |
| 17 | g.4933430C>A | CA397318866 | CHRNE,GP1BA | c.826C>A (p.Pro276Thr) c.-888+912G>T (n.-888+912G>T) | |
| 17 | g.4933430C= | CA2244625553 | CHRNE,GP1BA | c.826C= (p.Pro276=) c.-888+912G= (n.-888+912G=) | |
| 17 | g.4933430C>G | CA397318869 | CHRNE,GP1BA | c.826C>G (p.Pro276Ala) c.-888+912G>C (n.-888+912G>C) | |
| 17 | g.4933430C>T | CA397318873 | CHRNE,GP1BA | c.826C>T (p.Pro276Ser) c.-888+912G>A (n.-888+912G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933431C>A | CA397318876 | CHRNE,GP1BA | c.827C>A (p.Pro276Gln) c.-888+911G>T (n.-888+911G>T) | |
| 17 | g.4933431C>G | CA397318878 | CHRNE,GP1BA | c.827C>G (p.Pro276Arg) c.-888+911G>C (n.-888+911G>C) | |
| 17 | g.4933431C>T | CA397318879 | CHRNE,GP1BA | c.827C>T (p.Pro276Leu) c.-888+911G>A (n.-888+911G>A) | |
| 17 | g.4933432A>C | CA497677576 | CHRNE,GP1BA | c.828A>C (p.Pro276=) c.-888+910T>G (n.-888+910T>G) | |
| 17 | g.4933432A>G | CA497677578 | CHRNE,GP1BA | c.828A>G (p.Pro276=) c.-888+910T>C (n.-888+910T>C) | |
| 17 | g.4933432A>T | CA497677579 | CHRNE,GP1BA | c.828A>T (p.Pro276=) c.-888+910T>A (n.-888+910T>A) | |
| 17 | g.4933433G>A | CA8314843 | CHRNE,GP1BA | c.829G>A (p.Gly277Arg) c.-888+909C>T (n.-888+909C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933433G>C | CA397318885 | CHRNE,GP1BA | c.829G>C (p.Gly277Arg) c.-888+909C>G (n.-888+909C>G) | |
| 17 | g.4933433G= | CA2244625554 | CHRNE,GP1BA | c.829G= (p.Gly277=) c.-888+909C= (n.-888+909C=) | |
| 17 | g.4933433G>T | CA397318882 | CHRNE,GP1BA | c.829G>T (p.Gly277Ter) c.-888+909C>A (n.-888+909C>A) | |
| 17 | g.4933434G>A | CA397318889 | CHRNE,GP1BA | c.830G>A (p.Gly277Glu) c.-888+908C>T (n.-888+908C>T) | |
| 17 | g.4933434G>C | CA397318891 | CHRNE,GP1BA | c.830G>C (p.Gly277Ala) c.-888+908C>G (n.-888+908C>G) | |
| 17 | g.4933434G>T | CA397318894 | CHRNE,GP1BA | c.830G>T (p.Gly277Val) c.-888+908C>A (n.-888+908C>A) | |
| 17 | g.4933435A>C | CA497677580 | CHRNE,GP1BA | c.831A>C (p.Gly277=) c.-888+907T>G (n.-888+907T>G) | |
| 17 | g.4933435A>G | CA497677581 | CHRNE,GP1BA | c.831A>G (p.Gly277=) c.-888+907T>C (n.-888+907T>C) | |
| 17 | g.4933435A>T | CA497677585 | CHRNE,GP1BA | c.831A>T (p.Gly277=) c.-888+907T>A (n.-888+907T>A) | |
| 17 | g.4933436A>C | CA397318897 | CHRNE,GP1BA | c.832A>C (p.Lys278Gln) c.-888+906T>G (n.-888+906T>G) | |
| 17 | g.4933436A>G | CA397318898 | CHRNE,GP1BA | c.832A>G (p.Lys278Glu) c.-888+906T>C (n.-888+906T>C) | |
| 17 | g.4933436A>T | CA397318900 | CHRNE,GP1BA | c.832A>T (p.Lys278Ter) c.-888+906T>A (n.-888+906T>A) | |
| 17 | g.4933437A= | CA2244625555 | CHRNE,GP1BA | c.833A= (p.Lys278=) c.-888+905T= (n.-888+905T=) | |
| 17 | g.4933437A>C | CA397318904 | CHRNE,GP1BA | c.833A>C (p.Lys278Thr) c.-888+905T>G (n.-888+905T>G) | |
| 17 | g.4933437A>G | CA287216638 | CHRNE,GP1BA | c.833A>G (p.Lys278Arg) c.-888+905T>C (n.-888+905T>C) | dbSNP gnomAD v4 |
| 17 | g.4933437A>T | CA397318909 | CHRNE,GP1BA | c.833A>T (p.Lys278Met) c.-888+905T>A (n.-888+905T>A) | |
| 17 | g.4933438G>A | CA8314844 | CHRNE,GP1BA | c.834G>A (p.Lys278=) c.-888+904C>T (n.-888+904C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933438G>C | CA397318913 | CHRNE,GP1BA | c.834G>C (p.Lys278Asn) c.-888+904C>G (n.-888+904C>G) | |
| 17 | g.4933438G= | CA2244625556 | CHRNE,GP1BA | c.834G= (p.Lys278=) c.-888+904C= (n.-888+904C=) | |
| 17 | g.4933438G>T | CA397318914 | CHRNE,GP1BA | c.834G>T (p.Lys278Asn) c.-888+904C>A (n.-888+904C>A) | |
| 17 | g.4933439G>A | CA397318920 | CHRNE,GP1BA | c.835G>A (p.Gly279Arg) c.-888+903C>T (n.-888+903C>T) | |
| 17 | g.4933439G>C | CA397318919 | CHRNE,GP1BA | c.835G>C (p.Gly279Arg) c.-888+903C>G (n.-888+903C>G) | |
| 17 | g.4933439G>T | CA397318917 | CHRNE,GP1BA | c.835G>T (p.Gly279Trp) c.-888+903C>A (n.-888+903C>A) | |
| 17 | g.4933440G>A | CA397318926 | CHRNE,GP1BA | c.836G>A (p.Gly279Glu) c.-888+902C>T (n.-888+902C>T) | gnomAD v4 |
| 17 | g.4933440G>C | CA397318922 | CHRNE,GP1BA | c.836G>C (p.Gly279Ala) c.-888+902C>G (n.-888+902C>G) | |
| 17 | g.4933440G= | CA2244625557 | CHRNE,GP1BA | c.836G= (p.Gly279=) c.-888+902C= (n.-888+902C=) | |
| 17 | g.4933440G>T | CA397318925 | CHRNE,GP1BA | c.836G>T (p.Gly279Val) c.-888+902C>A (n.-888+902C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933441G>A | CA497677598 | CHRNE,GP1BA | c.837G>A (p.Gly279=) c.-888+901C>T (n.-888+901C>T) | gnomAD v4 |
| 17 | g.4933441G>C | CA497677596 | CHRNE,GP1BA | c.837G>C (p.Gly279=) c.-888+901C>G (n.-888+901C>G) | |
| 17 | g.4933441G>T | CA497677594 | CHRNE,GP1BA | c.837G>T (p.Gly279=) c.-888+901C>A (n.-888+901C>A) | |
| 17 | g.4933442T>A | CA397318928 | CHRNE,GP1BA | c.838T>A (p.Cys280Ser) c.-888+900A>T (n.-888+900A>T) | |
| 17 | g.4933442T>C | CA8314845 | CHRNE,GP1BA | c.838T>C (p.Cys280Arg) c.-888+900A>G (n.-888+900A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933442T>G | CA397318930 | CHRNE,GP1BA | c.838T>G (p.Cys280Gly) c.-888+900A>C (n.-888+900A>C) | |
| 17 | g.4933442T= | CA2244625558 | CHRNE,GP1BA | c.838T= (p.Cys280=) c.-888+900A= (n.-888+900A=) | |
| 17 | g.4933443G>A | CA397318933 | CHRNE,GP1BA | c.839G>A (p.Cys280Tyr) c.-888+899C>T (n.-888+899C>T) | |
| 17 | g.4933443G>C | CA397318935 | CHRNE,GP1BA | c.839G>C (p.Cys280Ser) c.-888+899C>G (n.-888+899C>G) | |
| 17 | g.4933443G>T | CA397318938 | CHRNE,GP1BA | c.839G>T (p.Cys280Phe) c.-888+899C>A (n.-888+899C>A) | |
| 17 | g.4933444C>A | CA397318941 | CHRNE,GP1BA | c.840C>A (p.Cys280Ter) c.-888+898G>T (n.-888+898G>T) | |
| 17 | g.4933444C>G | CA397318943 | CHRNE,GP1BA | c.840C>G (p.Cys280Trp) c.-888+898G>C (n.-888+898G>C) | |
| 17 | g.4933444C>T | CA497677604 | CHRNE,GP1BA | c.840C>T (p.Cys280=) c.-888+898G>A (n.-888+898G>A) | gnomAD v4 |
| 17 | g.4933445C>A | CA397318949 | CHRNE,GP1BA | c.841C>A (p.Pro281Thr) c.-888+897G>T (n.-888+897G>T) | |
| 17 | g.4933445C= | CA2244625559 | CHRNE,GP1BA | c.841C= (p.Pro281=) c.-888+897G= (n.-888+897G=) | |
| 17 | g.4933445C>G | CA397318950 | CHRNE,GP1BA | c.841C>G (p.Pro281Ala) c.-888+897G>C (n.-888+897G>C) | |
| 17 | g.4933445C>T | CA397318951 | CHRNE,GP1BA | c.841C>T (p.Pro281Ser) c.-888+897G>A (n.-888+897G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933446C>A | CA397318956 | CHRNE,GP1BA | c.842C>A (p.Pro281His) c.-888+896G>T (n.-888+896G>T) | |
| 17 | g.4933446C>G | CA397318953 | CHRNE,GP1BA | c.842C>G (p.Pro281Arg) c.-888+896G>C (n.-888+896G>C) | |
| 17 | g.4933446C>T | CA397318955 | CHRNE,GP1BA | c.842C>T (p.Pro281Leu) c.-888+896G>A (n.-888+896G>A) | |
| 17 | g.4933447C>A | CA497677607 | CHRNE,GP1BA | c.843C>A (p.Pro281=) c.-888+895G>T (n.-888+895G>T) | |
| 17 | g.4933447C>G | CA497677609 | CHRNE,GP1BA | c.843C>G (p.Pro281=) c.-888+895G>C (n.-888+895G>C) | |
| 17 | g.4933447C>T | CA497677608 | CHRNE,GP1BA | c.843C>T (p.Pro281=) c.-888+895G>A (n.-888+895G>A) | |
| 17 | g.4933448A>C | CA397318958 | CHRNE,GP1BA | c.844A>C (p.Thr282Pro) c.-888+894T>G (n.-888+894T>G) | |
| 17 | g.4933448A>G | CA397318960 | CHRNE,GP1BA | c.844A>G (p.Thr282Ala) c.-888+894T>C (n.-888+894T>C) | |
| 17 | g.4933448A>T | CA397318961 | CHRNE,GP1BA | c.844A>T (p.Thr282Ser) c.-888+894T>A (n.-888+894T>A) | |
| 17 | g.4933449C>A | CA397318962 | CHRNE,GP1BA | c.845C>A (p.Thr282Asn) c.-888+893G>T (n.-888+893G>T) | |
| 17 | g.4933449C>G | CA397318963 | CHRNE,GP1BA | c.845C>G (p.Thr282Ser) c.-888+893G>C (n.-888+893G>C) | |
| 17 | g.4933449C>T | CA397318965 | CHRNE,GP1BA | c.845C>T (p.Thr282Ile) c.-888+893G>A (n.-888+893G>A) | |
| 17 | g.4933450C>A | CA497677613 | CHRNE,GP1BA | c.846C>A (p.Thr282=) c.-888+892G>T (n.-888+892G>T) | |
| 17 | g.4933450C= | CA2244625560 | CHRNE,GP1BA | c.846C= (p.Thr282=) c.-888+892G= (n.-888+892G=) | |
| 17 | g.4933450C>G | CA497677614 | CHRNE,GP1BA | c.846C>G (p.Thr282=) c.-888+892G>C (n.-888+892G>C) | |
| 17 | g.4933450C>T | CA497677615 | CHRNE,GP1BA | c.846C>T (p.Thr282=) c.-888+892G>A (n.-888+892G>A) | dbSNP |