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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4932854_4932862del | CA2635578663 | CHRNE,GP1BA | c.250_258del (p.Thr84_Leu86del) c.-888+1485_-888+1493del (n.-888+1485_-888+1493del) | gnomAD v4 |
| 17 | g.4932861T>A | CA397315502 | CHRNE,GP1BA | c.257T>A (p.Leu86His) c.-888+1481A>T (n.-888+1481A>T) | |
| 17 | g.4932861T>C | CA397315500 | CHRNE,GP1BA | c.257T>C (p.Leu86Pro) c.-888+1481A>G (n.-888+1481A>G) | |
| 17 | g.4932861T>G | CA397315497 | CHRNE,GP1BA | c.257T>G (p.Leu86Arg) c.-888+1481A>C (n.-888+1481A>C) | |
| 17 | g.4932862C>A | CA497677498 | CHRNE,GP1BA | c.258C>A (p.Leu86=) c.-888+1480G>T (n.-888+1480G>T) | |
| 17 | g.4932862C= | CA2244625336 | CHRNE,GP1BA | c.258C= (p.Leu86=) c.-888+1480G= (n.-888+1480G=) | |
| 17 | g.4932862C>G | CA497677499 | CHRNE,GP1BA | c.258C>G (p.Leu86=) c.-888+1480G>C (n.-888+1480G>C) | |
| 17 | g.4932862C>T | CA497677500 | CHRNE,GP1BA | c.258C>T (p.Leu86=) c.-888+1480G>A (n.-888+1480G>A) | dbSNP gnomAD v4 |
| 17 | g.4932863C>A | CA397315510 | CHRNE,GP1BA | c.259C>A (p.Gln87Lys) c.-888+1479G>T (n.-888+1479G>T) | |
| 17 | g.4932863C>G | CA397315505 | CHRNE,GP1BA | c.259C>G (p.Gln87Glu) c.-888+1479G>C (n.-888+1479G>C) | |
| 17 | g.4932863C>T | CA397315509 | CHRNE,GP1BA | c.259C>T (p.Gln87Ter) c.-888+1479G>A (n.-888+1479G>A) | |
| 17 | g.4932864A>C | CA397315515 | CHRNE,GP1BA | c.260A>C (p.Gln87Pro) c.-888+1478T>G (n.-888+1478T>G) | |
| 17 | g.4932864A>G | CA397315519 | CHRNE,GP1BA | c.260A>G (p.Gln87Arg) c.-888+1478T>C (n.-888+1478T>C) | |
| 17 | g.4932864A>T | CA397315522 | CHRNE,GP1BA | c.260A>T (p.Gln87Leu) c.-888+1478T>A (n.-888+1478T>A) | |
| 17 | g.4932865G>A | CA497677505 | CHRNE,GP1BA | c.261G>A (p.Gln87=) c.-888+1477C>T (n.-888+1477C>T) | |
| 17 | g.4932865G>C | CA287215855 | CHRNE,GP1BA | c.261G>C (p.Gln87His) c.-888+1477C>G (n.-888+1477C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932865G= | CA2244625337 | CHRNE,GP1BA | c.261G= (p.Gln87=) c.-888+1477C= (n.-888+1477C=) | |
| 17 | g.4932865G>T | CA397315530 | CHRNE,GP1BA | c.261G>T (p.Gln87His) c.-888+1477C>A (n.-888+1477C>A) | |
| 17 | g.4932866G>A | CA397315533 | CHRNE,GP1BA | c.262G>A (p.Val88Ile) c.-888+1476C>T (n.-888+1476C>T) | dbSNP |
| 17 | g.4932866G>C | CA397315535 | CHRNE,GP1BA | c.262G>C (p.Val88Leu) c.-888+1476C>G (n.-888+1476C>G) | |
| 17 | g.4932866G= | CA2244625338 | CHRNE,GP1BA | c.262G= (p.Val88=) c.-888+1476C= (n.-888+1476C=) | |
| 17 | g.4932866G>T | CA397315534 | CHRNE,GP1BA | c.262G>T (p.Val88Phe) c.-888+1476C>A (n.-888+1476C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932867T>A | CA397315536 | CHRNE,GP1BA | c.263T>A (p.Val88Asp) c.-888+1475A>T (n.-888+1475A>T) | |
| 17 | g.4932867T>C | CA397315537 | CHRNE,GP1BA | c.263T>C (p.Val88Ala) c.-888+1475A>G (n.-888+1475A>G) | |
| 17 | g.4932867T>G | CA397315538 | CHRNE,GP1BA | c.263T>G (p.Val88Gly) c.-888+1475A>C (n.-888+1475A>C) | |
| 17 | g.4932868C>A | CA497677508 | CHRNE,GP1BA | c.264C>A (p.Val88=) c.-888+1474G>T (n.-888+1474G>T) | |
| 17 | g.4932868C= | CA2244625339 | CHRNE,GP1BA | c.264C= (p.Val88=) c.-888+1474G= (n.-888+1474G=) | |
| 17 | g.4932868C>G | CA497677509 | CHRNE,GP1BA | c.264C>G (p.Val88=) c.-888+1474G>C (n.-888+1474G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932868C>T | CA8314730 | CHRNE,GP1BA | c.264C>T (p.Val88=) c.-888+1474G>A (n.-888+1474G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932869G>A | CA397315542 | CHRNE,GP1BA | c.265G>A (p.Asp89Asn) c.-888+1473C>T (n.-888+1473C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932869G>C | CA397315544 | CHRNE,GP1BA | c.265G>C (p.Asp89His) c.-888+1473C>G (n.-888+1473C>G) | |
| 17 | g.4932869G= | CA2244625340 | CHRNE,GP1BA | c.265G= (p.Asp89=) c.-888+1473C= (n.-888+1473C=) | |
| 17 | g.4932869G>T | CA397315543 | CHRNE,GP1BA | c.265G>T (p.Asp89Tyr) c.-888+1473C>A (n.-888+1473C>A) | gnomAD v4 |
| 17 | g.4932870A>C | CA397315546 | CHRNE,GP1BA | c.266A>C (p.Asp89Ala) c.-888+1472T>G (n.-888+1472T>G) | |
| 17 | g.4932870A>G | CA397315549 | CHRNE,GP1BA | c.266A>G (p.Asp89Gly) c.-888+1472T>C (n.-888+1472T>C) | |
| 17 | g.4932870A>T | CA397315552 | CHRNE,GP1BA | c.266A>T (p.Asp89Val) c.-888+1472T>A (n.-888+1472T>A) | |
| 17 | g.4932870dup | CA2695224140 | CHRNE,GP1BA | c.266dup (p.Asp89GlufsTer?) c.-888+1472dup (n.-888+1472dup) | |
| 17 | g.4932871T>A | CA397315555 | CHRNE,GP1BA | c.267T>A (p.Asp89Glu) c.-888+1471A>T (n.-888+1471A>T) | |
| 17 | g.4932871T>C | CA497677511 | CHRNE,GP1BA | c.267T>C (p.Asp89=) c.-888+1471A>G (n.-888+1471A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932871T>G | CA397315558 | CHRNE,GP1BA | c.267T>G (p.Asp89Glu) c.-888+1471A>C (n.-888+1471A>C) | |
| 17 | g.4932871T= | CA2244625341 | CHRNE,GP1BA | c.267T= (p.Asp89=) c.-888+1471A= (n.-888+1471A=) | |
| 17 | g.4932872G>A | CA397315560 | CHRNE,GP1BA | c.268G>A (p.Gly90Arg) c.-888+1470C>T (n.-888+1470C>T) | |
| 17 | g.4932872G>C | CA397315562 | CHRNE,GP1BA | c.268G>C (p.Gly90Arg) c.-888+1470C>G (n.-888+1470C>G) | |
| 17 | g.4932872G>T | CA397315567 | CHRNE,GP1BA | c.268G>T (p.Gly90Trp) c.-888+1470C>A (n.-888+1470C>A) | |
| 17 | g.4932873G>A | CA397315575 | CHRNE,GP1BA | c.269G>A (p.Gly90Glu) c.-888+1469C>T (n.-888+1469C>T) | |
| 17 | g.4932873G>C | CA397315578 | CHRNE,GP1BA | c.269G>C (p.Gly90Ala) c.-888+1469C>G (n.-888+1469C>G) | |
| 17 | g.4932873G>T | CA397315582 | CHRNE,GP1BA | c.269G>T (p.Gly90Val) c.-888+1469C>A (n.-888+1469C>A) | |
| 17 | g.4932874G>A | CA497677516 | CHRNE,GP1BA | c.270G>A (p.Gly90=) c.-888+1468C>T (n.-888+1468C>T) | gnomAD v4 |
| 17 | g.4932874G>C | CA497677515 | CHRNE,GP1BA | c.270G>C (p.Gly90=) c.-888+1468C>G (n.-888+1468C>G) | |
| 17 | g.4932874G>T | CA497677514 | CHRNE,GP1BA | c.270G>T (p.Gly90=) c.-888+1468C>A (n.-888+1468C>A) | |
| 17 | g.4932875A= | CA2244625342 | CHRNE,GP1BA | c.271A= (p.Thr91=) c.-888+1467T= (n.-888+1467T=) | |
| 17 | g.4932875A>C | CA397315586 | CHRNE,GP1BA | c.271A>C (p.Thr91Pro) c.-888+1467T>G (n.-888+1467T>G) | |
| 17 | g.4932875A>G | CA397315588 | CHRNE,GP1BA | c.271A>G (p.Thr91Ala) c.-888+1467T>C (n.-888+1467T>C) | |
| 17 | g.4932875A>T | CA8314731 | CHRNE,GP1BA | c.271A>T (p.Thr91Ser) c.-888+1467T>A (n.-888+1467T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932876C>A | CA8314733 | CHRNE,GP1BA | c.272C>A (p.Thr91Lys) c.-888+1466G>T (n.-888+1466G>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932876C= | CA2244625343 | CHRNE,GP1BA | c.272C= (p.Thr91=) c.-888+1466G= (n.-888+1466G=) | |
| 17 | g.4932876C>G | CA397315596 | CHRNE,GP1BA | c.272C>G (p.Thr91Arg) c.-888+1466G>C (n.-888+1466G>C) | |
| 17 | g.4932876C>T | CA8314732 | CHRNE,GP1BA | c.272C>T (p.Thr91Met) c.-888+1466G>A (n.-888+1466G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932877G>A | CA8314734 | CHRNE,GP1BA | c.273G>A (p.Thr91=) c.-888+1465C>T (n.-888+1465C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932877G>C | CA497677522 | CHRNE,GP1BA | c.273G>C (p.Thr91=) c.-888+1465C>G (n.-888+1465C>G) | |
| 17 | g.4932877G= | CA2244625344 | CHRNE,GP1BA | c.273G= (p.Thr91=) c.-888+1465C= (n.-888+1465C=) | |
| 17 | g.4932877G>T | CA497677521 | CHRNE,GP1BA | c.273G>T (p.Thr91=) c.-888+1465C>A (n.-888+1465C>A) | |
| 17 | g.4932878C>A | CA397315599 | CHRNE,GP1BA | c.274C>A (p.Leu92Met) c.-888+1464G>T (n.-888+1464G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932878C= | CA2244625345 | CHRNE,GP1BA | c.274C= (p.Leu92=) c.-888+1464G= (n.-888+1464G=) | |
| 17 | g.4932878C>G | CA397315598 | CHRNE,GP1BA | c.274C>G (p.Leu92Val) c.-888+1464G>C (n.-888+1464G>C) | |
| 17 | g.4932878C>T | CA497677525 | CHRNE,GP1BA | c.274C>T (p.Leu92=) c.-888+1464G>A (n.-888+1464G>A) | |
| 17 | g.4932879del | CA2635578680 | CHRNE,GP1BA | c.275del (p.Leu92ArgfsTer20) c.-888+1463del (n.-888+1463del) | gnomAD v4 |
| 17 | g.4932879T>A | CA397315602 | CHRNE,GP1BA | c.275T>A (p.Leu92Gln) c.-888+1463A>T (n.-888+1463A>T) | |
| 17 | g.4932879T>C | CA397315609 | CHRNE,GP1BA | c.275T>C (p.Leu92Pro) c.-888+1463A>G (n.-888+1463A>G) | |
| 17 | g.4932879T>G | CA397315613 | CHRNE,GP1BA | c.275T>G (p.Leu92Arg) c.-888+1463A>C (n.-888+1463A>C) | |
| 17 | g.4932880G>A | CA497677527 | CHRNE,GP1BA | c.276G>A (p.Leu92=) c.-888+1462C>T (n.-888+1462C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932880G>C | CA497677529 | CHRNE,GP1BA | c.276G>C (p.Leu92=) c.-888+1462C>G (n.-888+1462C>G) | |
| 17 | g.4932880G= | CA2244625346 | CHRNE,GP1BA | c.276G= (p.Leu92=) c.-888+1462C= (n.-888+1462C=) | |
| 17 | g.4932880G>T | CA497677531 | CHRNE,GP1BA | c.276G>T (p.Leu92=) c.-888+1462C>A (n.-888+1462C>A) | |
| 17 | g.4932881C>A | CA397315618 | CHRNE,GP1BA | c.277C>A (p.Pro93Thr) c.-888+1461G>T (n.-888+1461G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932881C= | CA2244625347 | CHRNE,GP1BA | c.277C= (p.Pro93=) c.-888+1461G= (n.-888+1461G=) | |
| 17 | g.4932881C>G | CA397315620 | CHRNE,GP1BA | c.277C>G (p.Pro93Ala) c.-888+1461G>C (n.-888+1461G>C) | |
| 17 | g.4932881C>T | CA397315624 | CHRNE,GP1BA | c.277C>T (p.Pro93Ser) c.-888+1461G>A (n.-888+1461G>A) | |
| 17 | g.4932882dup | CA2695224141 | CHRNE,GP1BA | c.278dup (p.Val94SerfsTer?) c.-888+1461dup (n.-888+1461dup) | |
| 17 | g.4932882C>A | CA397315627 | CHRNE,GP1BA | c.278C>A (p.Pro93Gln) c.-888+1460G>T (n.-888+1460G>T) | |
| 17 | g.4932882C>G | CA397315629 | CHRNE,GP1BA | c.278C>G (p.Pro93Arg) c.-888+1460G>C (n.-888+1460G>C) | |
| 17 | g.4932882C>T | CA397315631 | CHRNE,GP1BA | c.278C>T (p.Pro93Leu) c.-888+1460G>A (n.-888+1460G>A) | |
| 17 | g.4932883A>C | CA497677534 | CHRNE,GP1BA | c.279A>C (p.Pro93=) c.-888+1459T>G (n.-888+1459T>G) | |
| 17 | g.4932883A>G | CA497677535 | CHRNE,GP1BA | c.279A>G (p.Pro93=) c.-888+1459T>C (n.-888+1459T>C) | gnomAD v4 |
| 17 | g.4932883A>T | CA497677536 | CHRNE,GP1BA | c.279A>T (p.Pro93=) c.-888+1459T>A (n.-888+1459T>A) | |
| 17 | g.4932884G>A | CA397315635 | CHRNE,GP1BA | c.280G>A (p.Val94Met) c.-888+1458C>T (n.-888+1458C>T) | |
| 17 | g.4932884G>C | CA397315637 | CHRNE,GP1BA | c.280G>C (p.Val94Leu) c.-888+1458C>G (n.-888+1458C>G) | |
| 17 | g.4932884G>T | CA397315640 | CHRNE,GP1BA | c.280G>T (p.Val94Leu) c.-888+1458C>A (n.-888+1458C>A) | |
| 17 | g.4932885T>A | CA397315643 | CHRNE,GP1BA | c.281T>A (p.Val94Glu) c.-888+1457A>T (n.-888+1457A>T) | |
| 17 | g.4932885T>C | CA397315648 | CHRNE,GP1BA | c.281T>C (p.Val94Ala) c.-888+1457A>G (n.-888+1457A>G) | |
| 17 | g.4932885T>G | CA397315645 | CHRNE,GP1BA | c.281T>G (p.Val94Gly) c.-888+1457A>C (n.-888+1457A>C) | |
| 17 | g.4932886G>A | CA497677539 | CHRNE,GP1BA | c.282G>A (p.Val94=) c.-888+1456C>T (n.-888+1456C>T) | |
| 17 | g.4932886G>C | CA497677540 | CHRNE,GP1BA | c.282G>C (p.Val94=) c.-888+1456C>G (n.-888+1456C>G) | |
| 17 | g.4932886G>T | CA497677541 | CHRNE,GP1BA | c.282G>T (p.Val94=) c.-888+1456C>A (n.-888+1456C>A) | |
| 17 | g.4932887C>A | CA397315652 | CHRNE,GP1BA | c.283C>A (p.Leu95Met) c.-888+1455G>T (n.-888+1455G>T) | |
| 17 | g.4932887C>G | CA397315653 | CHRNE,GP1BA | c.283C>G (p.Leu95Val) c.-888+1455G>C (n.-888+1455G>C) | |
| 17 | g.4932887C>T | CA497677543 | CHRNE,GP1BA | c.283C>T (p.Leu95=) c.-888+1455G>A (n.-888+1455G>A) | |
| 17 | g.4932888T>A | CA397315655 | CHRNE,GP1BA | c.284T>A (p.Leu95Gln) c.-888+1454A>T (n.-888+1454A>T) | |
| 17 | g.4932888T>C | CA397315657 | CHRNE,GP1BA | c.284T>C (p.Leu95Pro) c.-888+1454A>G (n.-888+1454A>G) | |
| 17 | g.4932888T>G | CA397315658 | CHRNE,GP1BA | c.284T>G (p.Leu95Arg) c.-888+1454A>C (n.-888+1454A>C) | ClinVar gnomAD v4 |
| 17 | g.4932889G>A | CA497677545 | CHRNE,GP1BA | c.285G>A (p.Leu95=) c.-888+1453C>T (n.-888+1453C>T) | |
| 17 | g.4932889G>C | CA497677546 | CHRNE,GP1BA | c.285G>C (p.Leu95=) c.-888+1453C>G (n.-888+1453C>G) | |
| 17 | g.4932889G>T | CA497677547 | CHRNE,GP1BA | c.285G>T (p.Leu95=) c.-888+1453C>A (n.-888+1453C>A) | |
| 17 | g.4932890G>A | CA397315662 | CHRNE,GP1BA | c.286G>A (p.Gly96Arg) c.-888+1452C>T (n.-888+1452C>T) | |
| 17 | g.4932890G>C | CA397315664 | CHRNE,GP1BA | c.286G>C (p.Gly96Arg) c.-888+1452C>G (n.-888+1452C>G) | |
| 17 | g.4932890G>T | CA397315666 | CHRNE,GP1BA | c.286G>T (p.Gly96Trp) c.-888+1452C>A (n.-888+1452C>A) | |
| 17 | g.4932891G>A | CA8314735 | CHRNE,GP1BA | c.287G>A (p.Gly96Glu) c.-888+1451C>T (n.-888+1451C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932891G>C | CA397315670 | CHRNE,GP1BA | c.287G>C (p.Gly96Ala) c.-888+1451C>G (n.-888+1451C>G) | |
| 17 | g.4932891G= | CA2244625348 | CHRNE,GP1BA | c.287G= (p.Gly96=) c.-888+1451C= (n.-888+1451C=) | |
| 17 | g.4932891G>T | CA397315671 | CHRNE,GP1BA | c.287G>T (p.Gly96Val) c.-888+1451C>A (n.-888+1451C>A) | |
| 17 | g.4932892G>A | CA8314736 | CHRNE,GP1BA | c.288G>A (p.Gly96=) c.-888+1450C>T (n.-888+1450C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932892G>C | CA497677551 | CHRNE,GP1BA | c.288G>C (p.Gly96=) c.-888+1450C>G (n.-888+1450C>G) | |
| 17 | g.4932892G= | CA2244625349 | CHRNE,GP1BA | c.288G= (p.Gly96=) c.-888+1450C= (n.-888+1450C=) | |
| 17 | g.4932892G>T | CA497677550 | CHRNE,GP1BA | c.288G>T (p.Gly96=) c.-888+1450C>A (n.-888+1450C>A) | COSMIC |
| 17 | g.4932893A>C | CA397315680 | CHRNE,GP1BA | c.289A>C (p.Thr97Pro) c.-888+1449T>G (n.-888+1449T>G) | |
| 17 | g.4932893A>G | CA397315674 | CHRNE,GP1BA | c.289A>G (p.Thr97Ala) c.-888+1449T>C (n.-888+1449T>C) | |
| 17 | g.4932893A>T | CA397315676 | CHRNE,GP1BA | c.289A>T (p.Thr97Ser) c.-888+1449T>A (n.-888+1449T>A) | |
| 17 | g.4932894C>A | CA397315685 | CHRNE,GP1BA | c.290C>A (p.Thr97Asn) c.-888+1448G>T (n.-888+1448G>T) | |
| 17 | g.4932894C= | CA2244625350 | CHRNE,GP1BA | c.290C= (p.Thr97=) c.-888+1448G= (n.-888+1448G=) | |
| 17 | g.4932894C>G | CA397315687 | CHRNE,GP1BA | c.290C>G (p.Thr97Ser) c.-888+1448G>C (n.-888+1448G>C) | |
| 17 | g.4932894C>T | CA397315688 | CHRNE,GP1BA | c.290C>T (p.Thr97Ile) c.-888+1448G>A (n.-888+1448G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932895C>A | CA497677556 | CHRNE,GP1BA | c.291C>A (p.Thr97=) c.-888+1447G>T (n.-888+1447G>T) | |
| 17 | g.4932895C= | CA2244625351 | CHRNE,GP1BA | c.291C= (p.Thr97=) c.-888+1447G= (n.-888+1447G=) | |
| 17 | g.4932895C>G | CA497677557 | CHRNE,GP1BA | c.291C>G (p.Thr97=) c.-888+1447G>C (n.-888+1447G>C) | |
| 17 | g.4932895C>T | CA287215907 | CHRNE,GP1BA | c.291C>T (p.Thr97=) c.-888+1447G>A (n.-888+1447G>A) | dbSNP gnomAD v4 |
| 17 | g.4932896C>A | CA397315691 | CHRNE,GP1BA | c.292C>A (p.Leu98Met) c.-888+1446G>T (n.-888+1446G>T) | |
| 17 | g.4932896C>G | CA397315692 | CHRNE,GP1BA | c.292C>G (p.Leu98Val) c.-888+1446G>C (n.-888+1446G>C) | gnomAD v4 |
| 17 | g.4932896C>T | CA497677560 | CHRNE,GP1BA | c.292C>T (p.Leu98=) c.-888+1446G>A (n.-888+1446G>A) | |
| 17 | g.4932897T>A | CA397315697 | CHRNE,GP1BA | c.293T>A (p.Leu98Gln) c.-888+1445A>T (n.-888+1445A>T) | |
| 17 | g.4932897T>C | CA397315698 | CHRNE,GP1BA | c.293T>C (p.Leu98Pro) c.-888+1445A>G (n.-888+1445A>G) | gnomAD v4 |
| 17 | g.4932897T>G | CA397315700 | CHRNE,GP1BA | c.293T>G (p.Leu98Arg) c.-888+1445A>C (n.-888+1445A>C) | |
| 17 | g.4932898G>A | CA497677564 | CHRNE,GP1BA | c.294G>A (p.Leu98=) c.-888+1444C>T (n.-888+1444C>T) | |
| 17 | g.4932898G>C | CA497677561 | CHRNE,GP1BA | c.294G>C (p.Leu98=) c.-888+1444C>G (n.-888+1444C>G) | |
| 17 | g.4932898G>T | CA497677562 | CHRNE,GP1BA | c.294G>T (p.Leu98=) c.-888+1444C>A (n.-888+1444C>A) | |
| 17 | g.4932899G>A | CA397315704 | CHRNE,GP1BA | c.295G>A (p.Asp99Asn) c.-888+1443C>T (n.-888+1443C>T) | gnomAD v4 |
| 17 | g.4932899G>C | CA397315705 | CHRNE,GP1BA | c.295G>C (p.Asp99His) c.-888+1443C>G (n.-888+1443C>G) | gnomAD v4 |
| 17 | g.4932899G>T | CA397315706 | CHRNE,GP1BA | c.295G>T (p.Asp99Tyr) c.-888+1443C>A (n.-888+1443C>A) | |
| 17 | g.4932900A>C | CA397315707 | CHRNE,GP1BA | c.296A>C (p.Asp99Ala) c.-888+1442T>G (n.-888+1442T>G) | |
| 17 | g.4932900A>G | CA397315709 | CHRNE,GP1BA | c.296A>G (p.Asp99Gly) c.-888+1442T>C (n.-888+1442T>C) | |
| 17 | g.4932900A>T | CA397315708 | CHRNE,GP1BA | c.296A>T (p.Asp99Val) c.-888+1442T>A (n.-888+1442T>A) | |
| 17 | g.4932901T>A | CA397315710 | CHRNE,GP1BA | c.297T>A (p.Asp99Glu) c.-888+1441A>T (n.-888+1441A>T) | |
| 17 | g.4932901T>C | CA287215912 | CHRNE,GP1BA | c.297T>C (p.Asp99=) c.-888+1441A>G (n.-888+1441A>G) | dbSNP gnomAD v4 |
| 17 | g.4932901T>G | CA397315712 | CHRNE,GP1BA | c.297T>G (p.Asp99Glu) c.-888+1441A>C (n.-888+1441A>C) | |
| 17 | g.4932901T= | CA2244625352 | CHRNE,GP1BA | c.297T= (p.Asp99=) c.-888+1441A= (n.-888+1441A=) | |
| 17 | g.4932902del | CA2635578682 | CHRNE,GP1BA | c.298del (p.Leu100TyrfsTer12) c.-888+1440del (n.-888+1440del) | gnomAD v4 |
| 17 | g.4932902C>A | CA397315713 | CHRNE,GP1BA | c.298C>A (p.Leu100Ile) c.-888+1440G>T (n.-888+1440G>T) | |
| 17 | g.4932902C>G | CA397315716 | CHRNE,GP1BA | c.298C>G (p.Leu100Val) c.-888+1440G>C (n.-888+1440G>C) | |
| 17 | g.4932902C>T | CA497677570 | CHRNE,GP1BA | c.298C>T (p.Leu100=) c.-888+1440G>A (n.-888+1440G>A) | gnomAD v4 |
| 17 | g.4932903T>A | CA397315719 | CHRNE,GP1BA | c.299T>A (p.Leu100Gln) c.-888+1439A>T (n.-888+1439A>T) | |
| 17 | g.4932903T>C | CA397315720 | CHRNE,GP1BA | c.299T>C (p.Leu100Pro) c.-888+1439A>G (n.-888+1439A>G) | gnomAD v4 |
| 17 | g.4932903T>G | CA397315721 | CHRNE,GP1BA | c.299T>G (p.Leu100Arg) c.-888+1439A>C (n.-888+1439A>C) | |
| 17 | g.4932904A>C | CA497677573 | CHRNE,GP1BA | c.300A>C (p.Leu100=) c.-888+1438T>G (n.-888+1438T>G) | |
| 17 | g.4932904A>G | CA497677571 | CHRNE,GP1BA | c.300A>G (p.Leu100=) c.-888+1438T>C (n.-888+1438T>C) | |
| 17 | g.4932904A>T | CA497677572 | CHRNE,GP1BA | c.300A>T (p.Leu100=) c.-888+1438T>A (n.-888+1438T>A) | |
| 17 | g.4932905T>A | CA287215913 | CHRNE,GP1BA | c.301T>A (p.Ser101Thr) c.-888+1437A>T (n.-888+1437A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932905T>C | CA8314737 | CHRNE,GP1BA | c.301T>C (p.Ser101Pro) c.-888+1437A>G (n.-888+1437A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932905T>G | CA397315727 | CHRNE,GP1BA | c.301T>G (p.Ser101Ala) c.-888+1437A>C (n.-888+1437A>C) | |
| 17 | g.4932905T= | CA2244625353 | CHRNE,GP1BA | c.301T= (p.Ser101=) c.-888+1437A= (n.-888+1437A=) | |
| 17 | g.4932906C>A | CA397315736 | CHRNE,GP1BA | c.302C>A (p.Ser101Tyr) c.-888+1436G>T (n.-888+1436G>T) | |
| 17 | g.4932906C>G | CA397315734 | CHRNE,GP1BA | c.302C>G (p.Ser101Cys) c.-888+1436G>C (n.-888+1436G>C) | |
| 17 | g.4932906C>T | CA397315731 | CHRNE,GP1BA | c.302C>T (p.Ser101Phe) c.-888+1436G>A (n.-888+1436G>A) | gnomAD v4 |
| 17 | g.4932907C>A | CA287215925 | CHRNE,GP1BA | c.303C>A (p.Ser101=) c.-888+1435G>T (n.-888+1435G>T) | dbSNP |
| 17 | g.4932907C= | CA2244625354 | CHRNE,GP1BA | c.303C= (p.Ser101=) c.-888+1435G= (n.-888+1435G=) | |
| 17 | g.4932907C>G | CA497677583 | CHRNE,GP1BA | c.303C>G (p.Ser101=) c.-888+1435G>C (n.-888+1435G>C) | |
| 17 | g.4932907C>T | CA497677586 | CHRNE,GP1BA | c.303C>T (p.Ser101=) c.-888+1435G>A (n.-888+1435G>A) | |
| 17 | g.4932908C>A | CA8314738 | CHRNE,GP1BA | c.304C>A (p.His102Asn) c.-888+1434G>T (n.-888+1434G>T) | dbSNP ExAC |
| 17 | g.4932908C= | CA2244625355 | CHRNE,GP1BA | c.304C= (p.His102=) c.-888+1434G= (n.-888+1434G=) | |
| 17 | g.4932908C>G | CA397315740 | CHRNE,GP1BA | c.304C>G (p.His102Asp) c.-888+1434G>C (n.-888+1434G>C) | |
| 17 | g.4932908C>T | CA397315742 | CHRNE,GP1BA | c.304C>T (p.His102Tyr) c.-888+1434G>A (n.-888+1434G>A) | |
| 17 | g.4932909_4932910insAAAAACCAAACACACCCAACA | CA2808297072 | CHRNE,GP1BA | c.305_306insAAAAACCAAACACACCCAACA (p.Ser101_His102insGlnLysThrLysHisThrGln) c.-888+1434_-888+1435insTTGGGTGTGTTTGGTTTTTTG (n.-888+1434_-888+1435insTTGGGTGTGTTTGGTTTTTTG) | |
| 17 | g.4932909A>C | CA397315746 | CHRNE,GP1BA | c.305A>C (p.His102Pro) c.-888+1433T>G (n.-888+1433T>G) | |
| 17 | g.4932909A>G | CA397315750 | CHRNE,GP1BA | c.305A>G (p.His102Arg) c.-888+1433T>C (n.-888+1433T>C) | |
| 17 | g.4932909A>T | CA397315753 | CHRNE,GP1BA | c.305A>T (p.His102Leu) c.-888+1433T>A (n.-888+1433T>A) | |
| 17 | g.4932910C>A | CA397315755 | CHRNE,GP1BA | c.306C>A (p.His102Gln) c.-888+1432G>T (n.-888+1432G>T) | dbSNP gnomAD v4 |
| 17 | g.4932910C= | CA2244625356 | CHRNE,GP1BA | c.306C= (p.His102=) c.-888+1432G= (n.-888+1432G=) | |
| 17 | g.4932910C>G | CA397315757 | CHRNE,GP1BA | c.306C>G (p.His102Gln) c.-888+1432G>C (n.-888+1432G>C) | |
| 17 | g.4932910C>T | CA497677591 | CHRNE,GP1BA | c.306C>T (p.His102=) c.-888+1432G>A (n.-888+1432G>A) | gnomAD v4 |
| 17 | g.4932911A>C | CA397315759 | CHRNE,GP1BA | c.307A>C (p.Asn103His) c.-888+1431T>G (n.-888+1431T>G) | |
| 17 | g.4932911A>G | CA397315763 | CHRNE,GP1BA | c.307A>G (p.Asn103Asp) c.-888+1431T>C (n.-888+1431T>C) | gnomAD v4 |
| 17 | g.4932911A>T | CA397315766 | CHRNE,GP1BA | c.307A>T (p.Asn103Tyr) c.-888+1431T>A (n.-888+1431T>A) | |
| 17 | g.4932912A>C | CA397315769 | CHRNE,GP1BA | c.308A>C (p.Asn103Thr) c.-888+1430T>G (n.-888+1430T>G) | |
| 17 | g.4932912A>G | CA397315770 | CHRNE,GP1BA | c.308A>G (p.Asn103Ser) c.-888+1430T>C (n.-888+1430T>C) | ClinVar dbSNP |
| 17 | g.4932912A>T | CA397315772 | CHRNE,GP1BA | c.308A>T (p.Asn103Ile) c.-888+1430T>A (n.-888+1430T>A) | |
| 17 | g.4932913T>A | CA397315777 | CHRNE,GP1BA | c.309T>A (p.Asn103Lys) c.-888+1429A>T (n.-888+1429A>T) | |
| 17 | g.4932913T>C | CA497677592 | CHRNE,GP1BA | c.309T>C (p.Asn103=) c.-888+1429A>G (n.-888+1429A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932913T>G | CA397315776 | CHRNE,GP1BA | c.309T>G (p.Asn103Lys) c.-888+1429A>C (n.-888+1429A>C) | |
| 17 | g.4932913T= | CA2244625357 | CHRNE,GP1BA | c.309T= (p.Asn103=) c.-888+1429A= (n.-888+1429A=) | |
| 17 | g.4932914C>A | CA397315778 | CHRNE,GP1BA | c.310C>A (p.Gln104Lys) c.-888+1428G>T (n.-888+1428G>T) | |
| 17 | g.4932914C>G | CA397315779 | CHRNE,GP1BA | c.310C>G (p.Gln104Glu) c.-888+1428G>C (n.-888+1428G>C) | COSMIC |
| 17 | g.4932914C>T | CA397315782 | CHRNE,GP1BA | c.310C>T (p.Gln104Ter) c.-888+1428G>A (n.-888+1428G>A) | |
| 17 | g.4932915A>C | CA397315783 | CHRNE,GP1BA | c.311A>C (p.Gln104Pro) c.-888+1427T>G (n.-888+1427T>G) | |
| 17 | g.4932915A>G | CA397315789 | CHRNE,GP1BA | c.311A>G (p.Gln104Arg) c.-888+1427T>C (n.-888+1427T>C) | |
| 17 | g.4932915A>T | CA397315791 | CHRNE,GP1BA | c.311A>T (p.Gln104Leu) c.-888+1427T>A (n.-888+1427T>A) | |
| 17 | g.4932916G>A | CA497677599 | CHRNE,GP1BA | c.312G>A (p.Gln104=) c.-888+1426C>T (n.-888+1426C>T) | gnomAD v4 |
| 17 | g.4932916G>C | CA397315795 | CHRNE,GP1BA | c.312G>C (p.Gln104His) c.-888+1426C>G (n.-888+1426C>G) | |
| 17 | g.4932916G>T | CA397315794 | CHRNE,GP1BA | c.312G>T (p.Gln104His) c.-888+1426C>A (n.-888+1426C>A) | |
| 17 | g.4932917C>A | CA397315797 | CHRNE,GP1BA | c.313C>A (p.Leu105Met) c.-888+1425G>T (n.-888+1425G>T) | |
| 17 | g.4932917C>G | CA397315798 | CHRNE,GP1BA | c.313C>G (p.Leu105Val) c.-888+1425G>C (n.-888+1425G>C) | |
| 17 | g.4932917C>T | CA497677603 | CHRNE,GP1BA | c.313C>T (p.Leu105=) c.-888+1425G>A (n.-888+1425G>A) | |
| 17 | g.4932921_4932929del | CA2695224142 | CHRNE,GP1BA | c.317_325del (p.Gln106_Leu108del) c.-888+1417_-888+1425del (n.-888+1417_-888+1425del) | |
| 17 | g.4932918T>A | CA397315801 | CHRNE,GP1BA | c.314T>A (p.Leu105Gln) c.-888+1424A>T (n.-888+1424A>T) | |
| 17 | g.4932918T>C | CA397315805 | CHRNE,GP1BA | c.314T>C (p.Leu105Pro) c.-888+1424A>G (n.-888+1424A>G) | |
| 17 | g.4932918T>G | CA397315809 | CHRNE,GP1BA | c.314T>G (p.Leu105Arg) c.-888+1424A>C (n.-888+1424A>C) | |
| 17 | g.4932919G>A | CA8314739 | CHRNE,GP1BA | c.315G>A (p.Leu105=) c.-888+1423C>T (n.-888+1423C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932919G>C | CA287215940 | CHRNE,GP1BA | c.315G>C (p.Leu105=) c.-888+1423C>G (n.-888+1423C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932919G= | CA2244625358 | CHRNE,GP1BA | c.315G= (p.Leu105=) c.-888+1423C= (n.-888+1423C=) | |
| 17 | g.4932919G>T | CA497677606 | CHRNE,GP1BA | c.315G>T (p.Leu105=) c.-888+1423C>A (n.-888+1423C>A) | |
| 17 | g.4932920C>A | CA397315815 | CHRNE,GP1BA | c.316C>A (p.Gln106Lys) c.-888+1422G>T (n.-888+1422G>T) | COSMIC |
| 17 | g.4932920C= | CA2244625359 | CHRNE,GP1BA | c.316C= (p.Gln106=) c.-888+1422G= (n.-888+1422G=) | |
| 17 | g.4932920C>G | CA397315822 | CHRNE,GP1BA | c.316C>G (p.Gln106Glu) c.-888+1422G>C (n.-888+1422G>C) | ClinVar dbSNP |
| 17 | g.4932920C>T | CA397315818 | CHRNE,GP1BA | c.316C>T (p.Gln106Ter) c.-888+1422G>A (n.-888+1422G>A) | gnomAD v4 |
| 17 | g.4932921A>C | CA397315825 | CHRNE,GP1BA | c.317A>C (p.Gln106Pro) c.-888+1421T>G (n.-888+1421T>G) | |
| 17 | g.4932921A>G | CA397315828 | CHRNE,GP1BA | c.317A>G (p.Gln106Arg) c.-888+1421T>C (n.-888+1421T>C) | |
| 17 | g.4932921A>T | CA397315831 | CHRNE,GP1BA | c.317A>T (p.Gln106Leu) c.-888+1421T>A (n.-888+1421T>A) | |
| 17 | g.4932922A>C | CA397315833 | CHRNE,GP1BA | c.318A>C (p.Gln106His) c.-888+1420T>G (n.-888+1420T>G) | |
| 17 | g.4932922A>G | CA497677612 | CHRNE,GP1BA | c.318A>G (p.Gln106=) c.-888+1420T>C (n.-888+1420T>C) | |
| 17 | g.4932922A>T | CA397315834 | CHRNE,GP1BA | c.318A>T (p.Gln106His) c.-888+1420T>A (n.-888+1420T>A) | |
| 17 | g.4932923A= | CA2244625360 | CHRNE,GP1BA | c.319A= (p.Ser107=) c.-888+1419T= (n.-888+1419T=) | |
| 17 | g.4932923A>C | CA397315837 | CHRNE,GP1BA | c.319A>C (p.Ser107Arg) c.-888+1419T>G (n.-888+1419T>G) | |
| 17 | g.4932923A>G | CA397315840 | CHRNE,GP1BA | c.319A>G (p.Ser107Gly) c.-888+1419T>C (n.-888+1419T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932923A>T | CA397315841 | CHRNE,GP1BA | c.319A>T (p.Ser107Cys) c.-888+1419T>A (n.-888+1419T>A) | |
| 17 | g.4932924G>A | CA397315842 | CHRNE,GP1BA | c.320G>A (p.Ser107Asn) c.-888+1418C>T (n.-888+1418C>T) | |
| 17 | g.4932924G>C | CA397315844 | CHRNE,GP1BA | c.320G>C (p.Ser107Thr) c.-888+1418C>G (n.-888+1418C>G) | |
| 17 | g.4932924G>T | CA397315846 | CHRNE,GP1BA | c.320G>T (p.Ser107Ile) c.-888+1418C>A (n.-888+1418C>A) | |
| 17 | g.4932925C>A | CA397315848 | CHRNE,GP1BA | c.321C>A (p.Ser107Arg) c.-888+1417G>T (n.-888+1417G>T) | |
| 17 | g.4932925C= | CA2244625361 | CHRNE,GP1BA | c.321C= (p.Ser107=) c.-888+1417G= (n.-888+1417G=) | |
| 17 | g.4932925C>G | CA8314740 | CHRNE,GP1BA | c.321C>G (p.Ser107Arg) c.-888+1417G>C (n.-888+1417G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932925C>T | CA497677617 | CHRNE,GP1BA | c.321C>T (p.Ser107=) c.-888+1417G>A (n.-888+1417G>A) | ClinVar |
| 17 | g.4932926C>A | CA397315852 | CHRNE,GP1BA | c.322C>A (p.Leu108Met) c.-888+1416G>T (n.-888+1416G>T) | |
| 17 | g.4932926C>G | CA397315853 | CHRNE,GP1BA | c.322C>G (p.Leu108Val) c.-888+1416G>C (n.-888+1416G>C) | |
| 17 | g.4932926C>T | CA497677622 | CHRNE,GP1BA | c.322C>T (p.Leu108=) c.-888+1416G>A (n.-888+1416G>A) | gnomAD v4 |
| 17 | g.4932927T>A | CA397315857 | CHRNE,GP1BA | c.323T>A (p.Leu108Gln) c.-888+1415A>T (n.-888+1415A>T) | dbSNP |
| 17 | g.4932927T>C | CA397315860 | CHRNE,GP1BA | c.323T>C (p.Leu108Pro) c.-888+1415A>G (n.-888+1415A>G) | |
| 17 | g.4932927T>G | CA397315862 | CHRNE,GP1BA | c.323T>G (p.Leu108Arg) c.-888+1415A>C (n.-888+1415A>C) | |
| 17 | g.4932927T= | CA2244625362 | CHRNE,GP1BA | c.323T= (p.Leu108=) c.-888+1415A= (n.-888+1415A=) | |
| 17 | g.4932928G>A | CA8314741 | CHRNE,GP1BA | c.324G>A (p.Leu108=) c.-888+1414C>T (n.-888+1414C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932928G>C | CA497677625 | CHRNE,GP1BA | c.324G>C (p.Leu108=) c.-888+1414C>G (n.-888+1414C>G) | |
| 17 | g.4932928G= | CA2244625363 | CHRNE,GP1BA | c.324G= (p.Leu108=) c.-888+1414C= (n.-888+1414C=) | |
| 17 | g.4932928G>T | CA497677627 | CHRNE,GP1BA | c.324G>T (p.Leu108=) c.-888+1414C>A (n.-888+1414C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932929C>A | CA397315868 | CHRNE,GP1BA | c.325C>A (p.Pro109Thr) c.-888+1413G>T (n.-888+1413G>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4932929C>G | CA397315873 | CHRNE,GP1BA | c.325C>G (p.Pro109Ala) c.-888+1413G>C (n.-888+1413G>C) | |
| 17 | g.4932929C>T | CA397315878 | CHRNE,GP1BA | c.325C>T (p.Pro109Ser) c.-888+1413G>A (n.-888+1413G>A) | |
| 17 | g.4932930C>A | CA397315888 | CHRNE,GP1BA | c.326C>A (p.Pro109His) c.-888+1412G>T (n.-888+1412G>T) | |
| 17 | g.4932930C>G | CA397315890 | CHRNE,GP1BA | c.326C>G (p.Pro109Arg) c.-888+1412G>C (n.-888+1412G>C) | |
| 17 | g.4932930C>T | CA397315892 | CHRNE,GP1BA | c.326C>T (p.Pro109Leu) c.-888+1412G>A (n.-888+1412G>A) | COSMIC |
| 17 | g.4932931_4932935del | CA2635578683 | CHRNE,GP1BA | c.327_331del (p.Leu110ArgfsTer?) c.-888+1408_-888+1412del (n.-888+1408_-888+1412del) | gnomAD v4 |
| 17 | g.4932931C>A | CA497677632 | CHRNE,GP1BA | c.327C>A (p.Pro109=) c.-888+1411G>T (n.-888+1411G>T) | |
| 17 | g.4932931C>G | CA497677634 | CHRNE,GP1BA | c.327C>G (p.Pro109=) c.-888+1411G>C (n.-888+1411G>C) | |
| 17 | g.4932931C>T | CA497677635 | CHRNE,GP1BA | c.327C>T (p.Pro109=) c.-888+1411G>A (n.-888+1411G>A) | dbSNP |
| 17 | g.4932932T>A | CA397315895 | CHRNE,GP1BA | c.328T>A (p.Leu110Met) c.-888+1410A>T (n.-888+1410A>T) | |
| 17 | g.4932932T>C | CA497677637 | CHRNE,GP1BA | c.328T>C (p.Leu110=) c.-888+1410A>G (n.-888+1410A>G) | |
| 17 | g.4932932T>G | CA397315898 | CHRNE,GP1BA | c.328T>G (p.Leu110Val) c.-888+1410A>C (n.-888+1410A>C) | |
| 17 | g.4932933T>A | CA397315917 | CHRNE,GP1BA | c.329T>A (p.Leu110Ter) c.-888+1409A>T (n.-888+1409A>T) | gnomAD v4 |
| 17 | g.4932933T>C | CA397315925 | CHRNE,GP1BA | c.329T>C (p.Leu110Ser) c.-888+1409A>G (n.-888+1409A>G) | |
| 17 | g.4932933T>G | CA397315915 | CHRNE,GP1BA | c.329T>G (p.Leu110Trp) c.-888+1409A>C (n.-888+1409A>C) | |
| 17 | g.4932934G>A | CA8314742 | CHRNE,GP1BA | c.330G>A (p.Leu110=) c.-888+1408C>T (n.-888+1408C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932934G>C | CA397315931 | CHRNE,GP1BA | c.330G>C (p.Leu110Phe) c.-888+1408C>G (n.-888+1408C>G) | gnomAD v4 |
| 17 | g.4932934G= | CA2244625364 | CHRNE,GP1BA | c.330G= (p.Leu110=) c.-888+1408C= (n.-888+1408C=) | |
| 17 | g.4932934G>T | CA397315929 | CHRNE,GP1BA | c.330G>T (p.Leu110Phe) c.-888+1408C>A (n.-888+1408C>A) | |
| 17 | g.4932935C>A | CA397315933 | CHRNE,GP1BA | c.331C>A (p.Leu111Ile) c.-888+1407G>T (n.-888+1407G>T) | |
| 17 | g.4932935C= | CA2244625365 | CHRNE,GP1BA | c.331C= (p.Leu111=) c.-888+1407G= (n.-888+1407G=) | |
| 17 | g.4932935C>G | CA8314743 | CHRNE,GP1BA | c.331C>G (p.Leu111Val) c.-888+1407G>C (n.-888+1407G>C) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932935C>T | CA497677639 | CHRNE,GP1BA | c.331C>T (p.Leu111=) c.-888+1407G>A (n.-888+1407G>A) | |
| 17 | g.4932936T>A | CA397315938 | CHRNE,GP1BA | c.332T>A (p.Leu111Gln) c.-888+1406A>T (n.-888+1406A>T) | gnomAD v4 |
| 17 | g.4932936T>C | CA397315947 | CHRNE,GP1BA | c.332T>C (p.Leu111Pro) c.-888+1406A>G (n.-888+1406A>G) | |
| 17 | g.4932936T>G | CA397315941 | CHRNE,GP1BA | c.332T>G (p.Leu111Arg) c.-888+1406A>C (n.-888+1406A>C) | |
| 17 | g.4932937A>C | CA497677641 | CHRNE,GP1BA | c.333A>C (p.Leu111=) c.-888+1405T>G (n.-888+1405T>G) | |
| 17 | g.4932937A>G | CA497677643 | CHRNE,GP1BA | c.333A>G (p.Leu111=) c.-888+1405T>C (n.-888+1405T>C) | |
| 17 | g.4932937A>T | CA497677645 | CHRNE,GP1BA | c.333A>T (p.Leu111=) c.-888+1405T>A (n.-888+1405T>A) | |
| 17 | g.4932938G>A | CA8314744 | CHRNE,GP1BA | c.334G>A (p.Gly112Arg) c.-888+1404C>T (n.-888+1404C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932938G>C | CA8314745 | CHRNE,GP1BA | c.334G>C (p.Gly112Arg) c.-888+1404C>G (n.-888+1404C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932938G= | CA2244625366 | CHRNE,GP1BA | c.334G= (p.Gly112=) c.-888+1404C= (n.-888+1404C=) | |
| 17 | g.4932938G>T | CA397315953 | CHRNE,GP1BA | c.334G>T (p.Gly112Trp) c.-888+1404C>A (n.-888+1404C>A) | |
| 17 | g.4932939_4932940del | CA2635578684 | CHRNE,GP1BA | c.335_336del (p.Gly112AlafsTer?) c.-888+1403_-888+1404del (n.-888+1403_-888+1404del) | gnomAD v4 |
| 17 | g.4932939G>A | CA397315958 | CHRNE,GP1BA | c.335G>A (p.Gly112Glu) c.-888+1403C>T (n.-888+1403C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932939G>C | CA397315961 | CHRNE,GP1BA | c.335G>C (p.Gly112Ala) c.-888+1403C>G (n.-888+1403C>G) | |
| 17 | g.4932939G= | CA2244625367 | CHRNE,GP1BA | c.335G= (p.Gly112=) c.-888+1403C= (n.-888+1403C=) | |
| 17 | g.4932939G>T | CA397315963 | CHRNE,GP1BA | c.335G>T (p.Gly112Val) c.-888+1403C>A (n.-888+1403C>A) | |
| 17 | g.4932940G>A | CA497677648 | CHRNE,GP1BA | c.336G>A (p.Gly112=) c.-888+1402C>T (n.-888+1402C>T) | COSMIC |
| 17 | g.4932940G>C | CA497677649 | CHRNE,GP1BA | c.336G>C (p.Gly112=) c.-888+1402C>G (n.-888+1402C>G) | |
| 17 | g.4932940G= | CA2244625368 | CHRNE,GP1BA | c.336G= (p.Gly112=) c.-888+1402C= (n.-888+1402C=) | |
| 17 | g.4932940G>T | CA8314746 | CHRNE,GP1BA | c.336G>T (p.Gly112=) c.-888+1402C>A (n.-888+1402C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932941C>A | CA397315968 | CHRNE,GP1BA | c.337C>A (p.Gln113Lys) c.-888+1401G>T (n.-888+1401G>T) | |
| 17 | g.4932941C= | CA2244625369 | CHRNE,GP1BA | c.337C= (p.Gln113=) c.-888+1401G= (n.-888+1401G=) | |
| 17 | g.4932941C>G | CA397315970 | CHRNE,GP1BA | c.337C>G (p.Gln113Glu) c.-888+1401G>C (n.-888+1401G>C) | |
| 17 | g.4932941C>T | CA8314747 | CHRNE,GP1BA | c.337C>T (p.Gln113Ter) c.-888+1401G>A (n.-888+1401G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932942A>C | CA397315987 | CHRNE,GP1BA | c.338A>C (p.Gln113Pro) c.-888+1400T>G (n.-888+1400T>G) | |
| 17 | g.4932942A>G | CA397315975 | CHRNE,GP1BA | c.338A>G (p.Gln113Arg) c.-888+1400T>C (n.-888+1400T>C) | |
| 17 | g.4932942A>T | CA397315982 | CHRNE,GP1BA | c.338A>T (p.Gln113Leu) c.-888+1400T>A (n.-888+1400T>A) | |
| 17 | g.4932943G>A | CA497677651 | CHRNE,GP1BA | c.339G>A (p.Gln113=) c.-888+1399C>T (n.-888+1399C>T) | |
| 17 | g.4932943G>C | CA397315989 | CHRNE,GP1BA | c.339G>C (p.Gln113His) c.-888+1399C>G (n.-888+1399C>G) | |
| 17 | g.4932943G>T | CA397315992 | CHRNE,GP1BA | c.339G>T (p.Gln113His) c.-888+1399C>A (n.-888+1399C>A) | |
| 17 | g.4932943_4932944insGA | CA2695224143 | CHRNE,GP1BA | c.339_340insGA (p.Thr114GlufsTer16) c.-888+1398_-888+1399insTC (n.-888+1398_-888+1399insTC) | |
| 17 | g.4932944A>C | CA397315996 | CHRNE,GP1BA | c.340A>C (p.Thr114Pro) c.-888+1398T>G (n.-888+1398T>G) | |
| 17 | g.4932944A>G | CA397315999 | CHRNE,GP1BA | c.340A>G (p.Thr114Ala) c.-888+1398T>C (n.-888+1398T>C) | gnomAD v4 |
| 17 | g.4932944A>T | CA397316001 | CHRNE,GP1BA | c.340A>T (p.Thr114Ser) c.-888+1398T>A (n.-888+1398T>A) | |
| 17 | g.4932945C>A | CA397316005 | CHRNE,GP1BA | c.341C>A (p.Thr114Lys) c.-888+1397G>T (n.-888+1397G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932945C= | CA2244625370 | CHRNE,GP1BA | c.341C= (p.Thr114=) c.-888+1397G= (n.-888+1397G=) | |
| 17 | g.4932945C>G | CA397316008 | CHRNE,GP1BA | c.341C>G (p.Thr114Arg) c.-888+1397G>C (n.-888+1397G>C) | |
| 17 | g.4932945C>T | CA8314748 | CHRNE,GP1BA | c.341C>T (p.Thr114Ile) c.-888+1397G>A (n.-888+1397G>A) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932946A>C | CA497677656 | CHRNE,GP1BA | c.342A>C (p.Thr114=) c.-888+1396T>G (n.-888+1396T>G) | |
| 17 | g.4932946A>G | CA497677654 | CHRNE,GP1BA | c.342A>G (p.Thr114=) c.-888+1396T>C (n.-888+1396T>C) | gnomAD v4 |
| 17 | g.4932946A>T | CA497677653 | CHRNE,GP1BA | c.342A>T (p.Thr114=) c.-888+1396T>A (n.-888+1396T>A) | |
| 17 | g.4932947C>A | CA397316014 | CHRNE,GP1BA | c.343C>A (p.Leu115Met) c.-888+1395G>T (n.-888+1395G>T) | |
| 17 | g.4932947C>G | CA397316018 | CHRNE,GP1BA | c.343C>G (p.Leu115Val) c.-888+1395G>C (n.-888+1395G>C) | gnomAD v4 |
| 17 | g.4932947C>T | CA497677658 | CHRNE,GP1BA | c.343C>T (p.Leu115=) c.-888+1395G>A (n.-888+1395G>A) | |
| 17 | g.4932948T>A | CA397316031 | CHRNE,GP1BA | c.344T>A (p.Leu115Gln) c.-888+1394A>T (n.-888+1394A>T) | |
| 17 | g.4932948T>C | CA397316035 | CHRNE,GP1BA | c.344T>C (p.Leu115Pro) c.-888+1394A>G (n.-888+1394A>G) | ClinVar dbSNP |
| 17 | g.4932948T>G | CA397316030 | CHRNE,GP1BA | c.344T>G (p.Leu115Arg) c.-888+1394A>C (n.-888+1394A>C) | |
| 17 | g.4932948T= | CA2244625371 | CHRNE,GP1BA | c.344T= (p.Leu115=) c.-888+1394A= (n.-888+1394A=) | |
| 17 | g.4932949G>A | CA497677662 | CHRNE,GP1BA | c.345G>A (p.Leu115=) c.-888+1393C>T (n.-888+1393C>T) | |
| 17 | g.4932949G>C | CA497677660 | CHRNE,GP1BA | c.345G>C (p.Leu115=) c.-888+1393C>G (n.-888+1393C>G) | |
| 17 | g.4932949G>T | CA497677659 | CHRNE,GP1BA | c.345G>T (p.Leu115=) c.-888+1393C>A (n.-888+1393C>A) | |
| 17 | g.4932950C>A | CA8314749 | CHRNE,GP1BA | c.346C>A (p.Pro116Thr) c.-888+1392G>T (n.-888+1392G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932950C= | CA2244625372 | CHRNE,GP1BA | c.346C= (p.Pro116=) c.-888+1392G= (n.-888+1392G=) | |
| 17 | g.4932950C>G | CA397316040 | CHRNE,GP1BA | c.346C>G (p.Pro116Ala) c.-888+1392G>C (n.-888+1392G>C) | |
| 17 | g.4932950C>T | CA397316043 | CHRNE,GP1BA | c.346C>T (p.Pro116Ser) c.-888+1392G>A (n.-888+1392G>A) | gnomAD v4 |
| 17 | g.4932951C>A | CA397316055 | CHRNE,GP1BA | c.347C>A (p.Pro116His) c.-888+1391G>T (n.-888+1391G>T) | |
| 17 | g.4932951C= | CA2244625373 | CHRNE,GP1BA | c.347C= (p.Pro116=) c.-888+1391G= (n.-888+1391G=) | |
| 17 | g.4932951C>G | CA397316057 | CHRNE,GP1BA | c.347C>G (p.Pro116Arg) c.-888+1391G>C (n.-888+1391G>C) | |
| 17 | g.4932951C>T | CA397316059 | CHRNE,GP1BA | c.347C>T (p.Pro116Leu) c.-888+1391G>A (n.-888+1391G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932952T>A | CA497677665 | CHRNE,GP1BA | c.348T>A (p.Pro116=) c.-888+1390A>T (n.-888+1390A>T) | |
| 17 | g.4932952T>C | CA497677669 | CHRNE,GP1BA | c.348T>C (p.Pro116=) c.-888+1390A>G (n.-888+1390A>G) | |
| 17 | g.4932952T>G | CA497677667 | CHRNE,GP1BA | c.348T>G (p.Pro116=) c.-888+1390A>C (n.-888+1390A>C) | |
| 17 | g.4932953G>A | CA8314750 | CHRNE,GP1BA | c.349G>A (p.Ala117Thr) c.-888+1389C>T (n.-888+1389C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932953G>C | CA397316062 | CHRNE,GP1BA | c.349G>C (p.Ala117Pro) c.-888+1389C>G (n.-888+1389C>G) | |
| 17 | g.4932953G= | CA2244625374 | CHRNE,GP1BA | c.349G= (p.Ala117=) c.-888+1389C= (n.-888+1389C=) | |
| 17 | g.4932953G>T | CA397316063 | CHRNE,GP1BA | c.349G>T (p.Ala117Ser) c.-888+1389C>A (n.-888+1389C>A) | |
| 17 | g.4932954C>A | CA397316064 | CHRNE,GP1BA | c.350C>A (p.Ala117Asp) c.-888+1388G>T (n.-888+1388G>T) | |
| 17 | g.4932954C= | CA2244625375 | CHRNE,GP1BA | c.350C= (p.Ala117=) c.-888+1388G= (n.-888+1388G=) | |
| 17 | g.4932954C>G | CA8314751 | CHRNE,GP1BA | c.350C>G (p.Ala117Gly) c.-888+1388G>C (n.-888+1388G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932954C>T | CA397316065 | CHRNE,GP1BA | c.350C>T (p.Ala117Val) c.-888+1388G>A (n.-888+1388G>A) | |
| 17 | g.4932957_4932958del | CA2576136022 | CHRNE,GP1BA | c.353_354del (p.Leu118HisfsTer?) c.-888+1387_-888+1388del (n.-888+1387_-888+1388del) | |
| 17 | g.4932955T>A | CA497677672 | CHRNE,GP1BA | c.351T>A (p.Ala117=) c.-888+1387A>T (n.-888+1387A>T) | |
| 17 | g.4932955T>C | CA497677675 | CHRNE,GP1BA | c.351T>C (p.Ala117=) c.-888+1387A>G (n.-888+1387A>G) | |
| 17 | g.4932955T>G | CA497677676 | CHRNE,GP1BA | c.351T>G (p.Ala117=) c.-888+1387A>C (n.-888+1387A>C) | |
| 17 | g.4932956C>A | CA397316079 | CHRNE,GP1BA | c.352C>A (p.Leu118Ile) c.-888+1386G>T (n.-888+1386G>T) | |
| 17 | g.4932956C>G | CA397316068 | CHRNE,GP1BA | c.352C>G (p.Leu118Val) c.-888+1386G>C (n.-888+1386G>C) | |
| 17 | g.4932956C>T | CA397316069 | CHRNE,GP1BA | c.352C>T (p.Leu118Phe) c.-888+1386G>A (n.-888+1386G>A) | |
| 17 | g.4932957T>A | CA397316083 | CHRNE,GP1BA | c.353T>A (p.Leu118His) c.-888+1385A>T (n.-888+1385A>T) | |
| 17 | g.4932957T>C | CA397316087 | CHRNE,GP1BA | c.353T>C (p.Leu118Pro) c.-888+1385A>G (n.-888+1385A>G) | |
| 17 | g.4932957T>G | CA397316093 | CHRNE,GP1BA | c.353T>G (p.Leu118Arg) c.-888+1385A>C (n.-888+1385A>C) | |
| 17 | g.4932958C>A | CA497677231 | CHRNE,GP1BA | c.354C>A (p.Leu118=) c.-888+1384G>T (n.-888+1384G>T) | |
| 17 | g.4932958C>G | CA497677232 | CHRNE,GP1BA | c.354C>G (p.Leu118=) c.-888+1384G>C (n.-888+1384G>C) | |
| 17 | g.4932958C>T | CA497677233 | CHRNE,GP1BA | c.354C>T (p.Leu118=) c.-888+1384G>A (n.-888+1384G>A) | |
| 17 | g.4932959A= | CA2244625376 | CHRNE,GP1BA | c.355A= (p.Thr119=) c.-888+1383T= (n.-888+1383T=) | |
| 17 | g.4932959A>C | CA397316095 | CHRNE,GP1BA | c.355A>C (p.Thr119Pro) c.-888+1383T>G (n.-888+1383T>G) | |
| 17 | g.4932959A>G | CA8314752 | CHRNE,GP1BA | c.355A>G (p.Thr119Ala) c.-888+1383T>C (n.-888+1383T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932959A>T | CA397316098 | CHRNE,GP1BA | c.355A>T (p.Thr119Ser) c.-888+1383T>A (n.-888+1383T>A) | |
| 17 | g.4932959dup | CA2837995403 | CHRNE,GP1BA | c.355dup (p.Thr119AsnfsTer?) c.-888+1383dup (n.-888+1383dup) | |
| 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 |