UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4932721A= | CA2244625270 | CHRNE,GP1BA | c.117A= (p.Thr39=) c.-888+1621T= (n.-888+1621T=) | |
| 17 | g.4932721A>C | CA497677261 | CHRNE,GP1BA | c.117A>C (p.Thr39=) c.-888+1621T>G (n.-888+1621T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932721A>G | CA497677262 | CHRNE,GP1BA | c.117A>G (p.Thr39=) c.-888+1621T>C (n.-888+1621T>C) | |
| 17 | g.4932721A>T | CA497677263 | CHRNE,GP1BA | c.117A>T (p.Thr39=) c.-888+1621T>A (n.-888+1621T>A) | |
| 17 | g.4932722G>A | CA397314456 | CHRNE,GP1BA | c.118G>A (p.Ala40Thr) c.-888+1620C>T (n.-888+1620C>T) | |
| 17 | g.4932722G>C | CA397314459 | CHRNE,GP1BA | c.118G>C (p.Ala40Pro) c.-888+1620C>G (n.-888+1620C>G) | |
| 17 | g.4932722G>T | CA397314462 | CHRNE,GP1BA | c.118G>T (p.Ala40Ser) c.-888+1620C>A (n.-888+1620C>A) | |
| 17 | g.4932723C>A | CA397314473 | CHRNE,GP1BA | c.119C>A (p.Ala40Glu) c.-888+1619G>T (n.-888+1619G>T) | dbSNP |
| 17 | g.4932723C= | CA2244625271 | CHRNE,GP1BA | c.119C= (p.Ala40=) c.-888+1619G= (n.-888+1619G=) | |
| 17 | g.4932723C>G | CA397314466 | CHRNE,GP1BA | c.119C>G (p.Ala40Gly) c.-888+1619G>C (n.-888+1619G>C) | |
| 17 | g.4932723C>T | CA397314468 | CHRNE,GP1BA | c.119C>T (p.Ala40Val) c.-888+1619G>A (n.-888+1619G>A) | gnomAD v4 |
| 17 | g.4932724G>A | CA8314701 | CHRNE,GP1BA | c.120G>A (p.Ala40=) c.-888+1618C>T (n.-888+1618C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932724G>C | CA497677268 | CHRNE,GP1BA | c.120G>C (p.Ala40=) c.-888+1618C>G (n.-888+1618C>G) | |
| 17 | g.4932724G= | CA2244625272 | CHRNE,GP1BA | c.120G= (p.Ala40=) c.-888+1618C= (n.-888+1618C=) | |
| 17 | g.4932724G>T | CA497677269 | CHRNE,GP1BA | c.120G>T (p.Ala40=) c.-888+1618C>A (n.-888+1618C>A) | |
| 17 | g.4932725C>A | CA397314476 | CHRNE,GP1BA | c.121C>A (p.Leu41Met) c.-888+1617G>T (n.-888+1617G>T) | |
| 17 | g.4932725C>G | CA397314478 | CHRNE,GP1BA | c.121C>G (p.Leu41Val) c.-888+1617G>C (n.-888+1617G>C) | |
| 17 | g.4932725C>T | CA497677271 | CHRNE,GP1BA | c.121C>T (p.Leu41=) c.-888+1617G>A (n.-888+1617G>A) | gnomAD v4 |
| 17 | g.4932726T>A | CA397314482 | CHRNE,GP1BA | c.122T>A (p.Leu41Gln) c.-888+1616A>T (n.-888+1616A>T) | |
| 17 | g.4932726T>C | CA397314484 | CHRNE,GP1BA | c.122T>C (p.Leu41Pro) c.-888+1616A>G (n.-888+1616A>G) | |
| 17 | g.4932726T>G | CA397314487 | CHRNE,GP1BA | c.122T>G (p.Leu41Arg) c.-888+1616A>C (n.-888+1616A>C) | |
| 17 | g.4932727G>A | CA497677274 | CHRNE,GP1BA | c.123G>A (p.Leu41=) c.-888+1615C>T (n.-888+1615C>T) | |
| 17 | g.4932727G>C | CA497677276 | CHRNE,GP1BA | c.123G>C (p.Leu41=) c.-888+1615C>G (n.-888+1615C>G) | gnomAD v4 |
| 17 | g.4932727G>T | CA497677277 | CHRNE,GP1BA | c.123G>T (p.Leu41=) c.-888+1615C>A (n.-888+1615C>A) | |
| 17 | g.4932728C>A | CA397314491 | CHRNE,GP1BA | c.124C>A (p.Pro42Thr) c.-888+1614G>T (n.-888+1614G>T) | dbSNP |
| 17 | g.4932728C= | CA2244625273 | CHRNE,GP1BA | c.124C= (p.Pro42=) c.-888+1614G= (n.-888+1614G=) | |
| 17 | g.4932728C>G | CA397314496 | CHRNE,GP1BA | c.124C>G (p.Pro42Ala) c.-888+1614G>C (n.-888+1614G>C) | |
| 17 | g.4932728C>T | CA397314498 | CHRNE,GP1BA | c.124C>T (p.Pro42Ser) c.-888+1614G>A (n.-888+1614G>A) | gnomAD v4 |
| 17 | g.4932729C>A | CA397314501 | CHRNE,GP1BA | c.125C>A (p.Pro42His) c.-888+1613G>T (n.-888+1613G>T) | |
| 17 | g.4932729C>G | CA397314504 | CHRNE,GP1BA | c.125C>G (p.Pro42Arg) c.-888+1613G>C (n.-888+1613G>C) | |
| 17 | g.4932729C>T | CA397314506 | CHRNE,GP1BA | c.125C>T (p.Pro42Leu) c.-888+1613G>A (n.-888+1613G>A) | |
| 17 | g.4932730T>A | CA497677278 | CHRNE,GP1BA | c.126T>A (p.Pro42=) c.-888+1612A>T (n.-888+1612A>T) | |
| 17 | g.4932730T>C | CA497677279 | CHRNE,GP1BA | c.126T>C (p.Pro42=) c.-888+1612A>G (n.-888+1612A>G) | |
| 17 | g.4932730T>G | CA497677281 | CHRNE,GP1BA | c.126T>G (p.Pro42=) c.-888+1612A>C (n.-888+1612A>C) | |
| 17 | g.4932731C>A | CA397314516 | CHRNE,GP1BA | c.127C>A (p.Pro43Thr) c.-888+1611G>T (n.-888+1611G>T) | |
| 17 | g.4932731C>G | CA397314515 | CHRNE,GP1BA | c.127C>G (p.Pro43Ala) c.-888+1611G>C (n.-888+1611G>C) | |
| 17 | g.4932731C>T | CA397314513 | CHRNE,GP1BA | c.127C>T (p.Pro43Ser) c.-888+1611G>A (n.-888+1611G>A) | |
| 17 | g.4932732del | CA2576136021 | CHRNE,GP1BA | c.128del (p.Pro43GlnfsTer12) c.-888+1611del (n.-888+1611del) | gnomAD v4 |
| 17 | g.4932732C>A | CA397314519 | CHRNE,GP1BA | c.128C>A (p.Pro43Gln) c.-888+1610G>T (n.-888+1610G>T) | |
| 17 | g.4932732C>G | CA397314520 | CHRNE,GP1BA | c.128C>G (p.Pro43Arg) c.-888+1610G>C (n.-888+1610G>C) | |
| 17 | g.4932732C>T | CA397314524 | CHRNE,GP1BA | c.128C>T (p.Pro43Leu) c.-888+1610G>A (n.-888+1610G>A) | |
| 17 | g.4932733A>C | CA497677288 | CHRNE,GP1BA | c.129A>C (p.Pro43=) c.-888+1609T>G (n.-888+1609T>G) | |
| 17 | g.4932733A>G | CA497677286 | CHRNE,GP1BA | c.129A>G (p.Pro43=) c.-888+1609T>C (n.-888+1609T>C) | |
| 17 | g.4932733A>T | CA497677285 | CHRNE,GP1BA | c.129A>T (p.Pro43=) c.-888+1609T>A (n.-888+1609T>A) | |
| 17 | g.4932734G>A | CA397314528 | CHRNE,GP1BA | c.130G>A (p.Asp44Asn) c.-888+1608C>T (n.-888+1608C>T) | |
| 17 | g.4932734G>C | CA397314531 | CHRNE,GP1BA | c.130G>C (p.Asp44His) c.-888+1608C>G (n.-888+1608C>G) | gnomAD v4 |
| 17 | g.4932734G>T | CA397314533 | CHRNE,GP1BA | c.130G>T (p.Asp44Tyr) c.-888+1608C>A (n.-888+1608C>A) | |
| 17 | g.4932735A= | CA2244625274 | CHRNE,GP1BA | c.131A= (p.Asp44=) c.-888+1607T= (n.-888+1607T=) | |
| 17 | g.4932735A>C | CA397314537 | CHRNE,GP1BA | c.131A>C (p.Asp44Ala) c.-888+1607T>G (n.-888+1607T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932735A>G | CA397314543 | CHRNE,GP1BA | c.131A>G (p.Asp44Gly) c.-888+1607T>C (n.-888+1607T>C) | |
| 17 | g.4932735A>T | CA397314546 | CHRNE,GP1BA | c.131A>T (p.Asp44Val) c.-888+1607T>A (n.-888+1607T>A) | |
| 17 | g.4932736C>A | CA397314552 | CHRNE,GP1BA | c.132C>A (p.Asp44Glu) c.-888+1606G>T (n.-888+1606G>T) | |
| 17 | g.4932736C>G | CA397314555 | CHRNE,GP1BA | c.132C>G (p.Asp44Glu) c.-888+1606G>C (n.-888+1606G>C) | |
| 17 | g.4932736C>T | CA497677292 | CHRNE,GP1BA | c.132C>T (p.Asp44=) c.-888+1606G>A (n.-888+1606G>A) | |
| 17 | g.4932737C>A | CA397314557 | CHRNE,GP1BA | c.133C>A (p.Leu45Met) c.-888+1605G>T (n.-888+1605G>T) | |
| 17 | g.4932737C>G | CA397314561 | CHRNE,GP1BA | c.133C>G (p.Leu45Val) c.-888+1605G>C (n.-888+1605G>C) | |
| 17 | g.4932737C>T | CA497677296 | CHRNE,GP1BA | c.133C>T (p.Leu45=) c.-888+1605G>A (n.-888+1605G>A) | |
| 17 | g.4932738T>A | CA397314567 | CHRNE,GP1BA | c.134T>A (p.Leu45Gln) c.-888+1604A>T (n.-888+1604A>T) | |
| 17 | g.4932738T>C | CA397314569 | CHRNE,GP1BA | c.134T>C (p.Leu45Pro) c.-888+1604A>G (n.-888+1604A>G) | |
| 17 | g.4932738T>G | CA397314564 | CHRNE,GP1BA | c.134T>G (p.Leu45Arg) c.-888+1604A>C (n.-888+1604A>C) | |
| 17 | g.4932739G>A | CA497677297 | CHRNE,GP1BA | c.135G>A (p.Leu45=) c.-888+1603C>T (n.-888+1603C>T) | |
| 17 | g.4932739G>C | CA497677301 | CHRNE,GP1BA | c.135G>C (p.Leu45=) c.-888+1603C>G (n.-888+1603C>G) | |
| 17 | g.4932739G>T | CA497677298 | CHRNE,GP1BA | c.135G>T (p.Leu45=) c.-888+1603C>A (n.-888+1603C>A) | |
| 17 | g.4932740C>A | CA397314573 | CHRNE,GP1BA | c.136C>A (p.Pro46Thr) c.-888+1602G>T (n.-888+1602G>T) | |
| 17 | g.4932740C>G | CA397314576 | CHRNE,GP1BA | c.136C>G (p.Pro46Ala) c.-888+1602G>C (n.-888+1602G>C) | |
| 17 | g.4932740C>T | CA397314585 | CHRNE,GP1BA | c.136C>T (p.Pro46Ser) c.-888+1602G>A (n.-888+1602G>A) | |
| 17 | g.4932741C>A | CA287215708 | CHRNE,GP1BA | c.137C>A (p.Pro46Gln) c.-888+1601G>T (n.-888+1601G>T) | dbSNP gnomAD v4 |
| 17 | g.4932741C= | CA2244625275 | CHRNE,GP1BA | c.137C= (p.Pro46=) c.-888+1601G= (n.-888+1601G=) | |
| 17 | g.4932741C>G | CA8314702 | CHRNE,GP1BA | c.137C>G (p.Pro46Arg) c.-888+1601G>C (n.-888+1601G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932741C>T | CA8314703 | CHRNE,GP1BA | c.137C>T (p.Pro46Leu) c.-888+1601G>A (n.-888+1601G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932742G>A | CA8314704 | CHRNE,GP1BA | c.138G>A (p.Pro46=) c.-888+1600C>T (n.-888+1600C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932742G>C | CA497677305 | CHRNE,GP1BA | c.138G>C (p.Pro46=) c.-888+1600C>G (n.-888+1600C>G) | |
| 17 | g.4932742G= | CA2244625276 | CHRNE,GP1BA | c.138G= (p.Pro46=) c.-888+1600C= (n.-888+1600C=) | |
| 17 | g.4932742G>T | CA497677306 | CHRNE,GP1BA | c.138G>T (p.Pro46=) c.-888+1600C>A (n.-888+1600C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932743A>C | CA397314602 | CHRNE,GP1BA | c.139A>C (p.Lys47Gln) c.-888+1599T>G (n.-888+1599T>G) | |
| 17 | g.4932743A>G | CA397314596 | CHRNE,GP1BA | c.139A>G (p.Lys47Glu) c.-888+1599T>C (n.-888+1599T>C) | gnomAD v4 |
| 17 | g.4932743A>T | CA397314599 | CHRNE,GP1BA | c.139A>T (p.Lys47Ter) c.-888+1599T>A (n.-888+1599T>A) | |
| 17 | g.4932744A>C | CA397314605 | CHRNE,GP1BA | c.140A>C (p.Lys47Thr) c.-888+1598T>G (n.-888+1598T>G) | |
| 17 | g.4932744A>G | CA397314608 | CHRNE,GP1BA | c.140A>G (p.Lys47Arg) c.-888+1598T>C (n.-888+1598T>C) | |
| 17 | g.4932744A>T | CA397314612 | CHRNE,GP1BA | c.140A>T (p.Lys47Ile) c.-888+1598T>A (n.-888+1598T>A) | |
| 17 | g.4932745A>C | CA397314613 | CHRNE,GP1BA | c.141A>C (p.Lys47Asn) c.-888+1597T>G (n.-888+1597T>G) | |
| 17 | g.4932745A>G | CA497677310 | CHRNE,GP1BA | c.141A>G (p.Lys47=) c.-888+1597T>C (n.-888+1597T>C) | |
| 17 | g.4932745A>T | CA397314615 | CHRNE,GP1BA | c.141A>T (p.Lys47Asn) c.-888+1597T>A (n.-888+1597T>A) | |
| 17 | g.4932746G>A | CA397314617 | CHRNE,GP1BA | c.142G>A (p.Asp48Asn) c.-888+1596C>T (n.-888+1596C>T) | |
| 17 | g.4932746G>C | CA397314621 | CHRNE,GP1BA | c.142G>C (p.Asp48His) c.-888+1596C>G (n.-888+1596C>G) | |
| 17 | g.4932746G>T | CA397314618 | CHRNE,GP1BA | c.142G>T (p.Asp48Tyr) c.-888+1596C>A (n.-888+1596C>A) | |
| 17 | g.4932747A>C | CA397314622 | CHRNE,GP1BA | c.143A>C (p.Asp48Ala) c.-888+1595T>G (n.-888+1595T>G) | |
| 17 | g.4932747A>G | CA397314625 | CHRNE,GP1BA | c.143A>G (p.Asp48Gly) c.-888+1595T>C (n.-888+1595T>C) | |
| 17 | g.4932747A>T | CA397314626 | CHRNE,GP1BA | c.143A>T (p.Asp48Val) c.-888+1595T>A (n.-888+1595T>A) | |
| 17 | g.4932748C>A | CA397314627 | CHRNE,GP1BA | c.144C>A (p.Asp48Glu) c.-888+1594G>T (n.-888+1594G>T) | |
| 17 | g.4932748C= | CA2244625277 | CHRNE,GP1BA | c.144C= (p.Asp48=) c.-888+1594G= (n.-888+1594G=) | |
| 17 | g.4932748C>G | CA287215716 | CHRNE,GP1BA | c.144C>G (p.Asp48Glu) c.-888+1594G>C (n.-888+1594G>C) | dbSNP gnomAD v4 |
| 17 | g.4932748C>T | CA497677314 | CHRNE,GP1BA | c.144C>T (p.Asp48=) c.-888+1594G>A (n.-888+1594G>A) | |
| 17 | g.4932749A= | CA2244625278 | CHRNE,GP1BA | c.145A= (p.Thr49=) c.-888+1593T= (n.-888+1593T=) | |
| 17 | g.4932749A>C | CA397314631 | CHRNE,GP1BA | c.145A>C (p.Thr49Pro) c.-888+1593T>G (n.-888+1593T>G) | |
| 17 | g.4932749A>G | CA397314633 | CHRNE,GP1BA | c.145A>G (p.Thr49Ala) c.-888+1593T>C (n.-888+1593T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932749A>T | CA397314634 | CHRNE,GP1BA | c.145A>T (p.Thr49Ser) c.-888+1593T>A (n.-888+1593T>A) | |
| 17 | g.4932750C>A | CA397314637 | CHRNE,GP1BA | c.146C>A (p.Thr49Lys) c.-888+1592G>T (n.-888+1592G>T) | |
| 17 | g.4932750C= | CA2244625279 | CHRNE,GP1BA | c.146C= (p.Thr49=) c.-888+1592G= (n.-888+1592G=) | |
| 17 | g.4932750C>G | CA397314639 | CHRNE,GP1BA | c.146C>G (p.Thr49Arg) c.-888+1592G>C (n.-888+1592G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932750C>T | CA397314641 | CHRNE,GP1BA | c.146C>T (p.Thr49Ile) c.-888+1592G>A (n.-888+1592G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932751A>C | CA497677316 | CHRNE,GP1BA | c.147A>C (p.Thr49=) c.-888+1591T>G (n.-888+1591T>G) | |
| 17 | g.4932751A>G | CA497677318 | CHRNE,GP1BA | c.147A>G (p.Thr49=) c.-888+1591T>C (n.-888+1591T>C) | |
| 17 | g.4932751A>T | CA497677320 | CHRNE,GP1BA | c.147A>T (p.Thr49=) c.-888+1591T>A (n.-888+1591T>A) | |
| 17 | g.4932751_4932753delinsAAC | CA2244625280 | CHRNE,GP1BA | c.147_149delinsAAC (p.Thr49=) c.-888+1589_-888+1591delinsGTT (n.-888+1589_-888+1591delinsGTT) | |
| 17 | g.4932752A= | CA2244625281 | CHRNE,GP1BA | c.148A= (p.Thr50=) c.-888+1590T= (n.-888+1590T=) | |
| 17 | g.4932752A>C | CA397314643 | CHRNE,GP1BA | c.148A>C (p.Thr50Pro) c.-888+1590T>G (n.-888+1590T>G) | |
| 17 | g.4932752A>G | CA397314648 | CHRNE,GP1BA | c.148A>G (p.Thr50Ala) c.-888+1590T>C (n.-888+1590T>C) | dbSNP |
| 17 | g.4932752A>T | CA397314645 | CHRNE,GP1BA | c.148A>T (p.Thr50Ser) c.-888+1590T>A (n.-888+1590T>A) | |
| 17 | g.4932752_4932753del | CA915949477 | CHRNE,GP1BA | c.148_149del (p.Thr50HisfsTer6) c.-888+1589_-888+1590del (n.-888+1589_-888+1590del) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4932753C>A | CA397314651 | CHRNE,GP1BA | c.149C>A (p.Thr50Asn) c.-888+1589G>T (n.-888+1589G>T) | dbSNP COSMIC |
| 17 | g.4932753C= | CA2244625282 | CHRNE,GP1BA | c.149C= (p.Thr50=) c.-888+1589G= (n.-888+1589G=) | |
| 17 | g.4932753C>G | CA397314653 | CHRNE,GP1BA | c.149C>G (p.Thr50Ser) c.-888+1589G>C (n.-888+1589G>C) | |
| 17 | g.4932753C>T | CA8314705 | CHRNE,GP1BA | c.149C>T (p.Thr50Ile) c.-888+1589G>A (n.-888+1589G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932754C>A | CA497677322 | CHRNE,GP1BA | c.150C>A (p.Thr50=) c.-888+1588G>T (n.-888+1588G>T) | |
| 17 | g.4932754C>G | CA497677324 | CHRNE,GP1BA | c.150C>G (p.Thr50=) c.-888+1588G>C (n.-888+1588G>C) | |
| 17 | g.4932754C>T | CA497677325 | CHRNE,GP1BA | c.150C>T (p.Thr50=) c.-888+1588G>A (n.-888+1588G>A) | gnomAD v4 |
| 17 | g.4932755A>C | CA397314658 | CHRNE,GP1BA | c.151A>C (p.Ile51Leu) c.-888+1587T>G (n.-888+1587T>G) | |
| 17 | g.4932755A>G | CA397314659 | CHRNE,GP1BA | c.151A>G (p.Ile51Val) c.-888+1587T>C (n.-888+1587T>C) | |
| 17 | g.4932755A>T | CA397314661 | CHRNE,GP1BA | c.151A>T (p.Ile51Phe) c.-888+1587T>A (n.-888+1587T>A) | |
| 17 | g.4932756T>A | CA397314664 | CHRNE,GP1BA | c.152T>A (p.Ile51Asn) c.-888+1586A>T (n.-888+1586A>T) | |
| 17 | g.4932756T>C | CA397314667 | CHRNE,GP1BA | c.152T>C (p.Ile51Thr) c.-888+1586A>G (n.-888+1586A>G) | |
| 17 | g.4932756T>G | CA397314668 | CHRNE,GP1BA | c.152T>G (p.Ile51Ser) c.-888+1586A>C (n.-888+1586A>C) | |
| 17 | g.4932757C>A | CA497677329 | CHRNE,GP1BA | c.153C>A (p.Ile51=) c.-888+1585G>T (n.-888+1585G>T) | |
| 17 | g.4932757C>G | CA397314671 | CHRNE,GP1BA | c.153C>G (p.Ile51Met) c.-888+1585G>C (n.-888+1585G>C) | |
| 17 | g.4932757C>T | CA497677331 | CHRNE,GP1BA | c.153C>T (p.Ile51=) c.-888+1585G>A (n.-888+1585G>A) | COSMIC |
| 17 | g.4932758dup | CA2695224137 | CHRNE,GP1BA | c.154dup (p.Leu52ProfsTer5) c.-888+1585dup (n.-888+1585dup) | |
| 17 | g.4932758C>A | CA397314686 | CHRNE,GP1BA | c.154C>A (p.Leu52Ile) c.-888+1584G>T (n.-888+1584G>T) | |
| 17 | g.4932758C>G | CA397314690 | CHRNE,GP1BA | c.154C>G (p.Leu52Val) c.-888+1584G>C (n.-888+1584G>C) | gnomAD v4 |
| 17 | g.4932758C>T | CA397314692 | CHRNE,GP1BA | c.154C>T (p.Leu52Phe) c.-888+1584G>A (n.-888+1584G>A) | |
| 17 | g.4932759T>A | CA397314697 | CHRNE,GP1BA | c.155T>A (p.Leu52His) c.-888+1583A>T (n.-888+1583A>T) | |
| 17 | g.4932759T>C | CA397314702 | CHRNE,GP1BA | c.155T>C (p.Leu52Pro) c.-888+1583A>G (n.-888+1583A>G) | |
| 17 | g.4932759T>G | CA397314700 | CHRNE,GP1BA | c.155T>G (p.Leu52Arg) c.-888+1583A>C (n.-888+1583A>C) | |
| 17 | g.4932760C>A | CA497677337 | CHRNE,GP1BA | c.156C>A (p.Leu52=) c.-888+1582G>T (n.-888+1582G>T) | |
| 17 | g.4932760C= | CA2244625283 | CHRNE,GP1BA | c.156C= (p.Leu52=) c.-888+1582G= (n.-888+1582G=) | |
| 17 | g.4932760C>G | CA497677335 | CHRNE,GP1BA | c.156C>G (p.Leu52=) c.-888+1582G>C (n.-888+1582G>C) | dbSNP gnomAD v4 |
| 17 | g.4932760C>T | CA497677336 | CHRNE,GP1BA | c.156C>T (p.Leu52=) c.-888+1582G>A (n.-888+1582G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932761C>A | CA397314705 | CHRNE,GP1BA | c.157C>A (p.His53Asn) c.-888+1581G>T (n.-888+1581G>T) | COSMIC |
| 17 | g.4932761C>G | CA397314708 | CHRNE,GP1BA | c.157C>G (p.His53Asp) c.-888+1581G>C (n.-888+1581G>C) | |
| 17 | g.4932761C>T | CA397314711 | CHRNE,GP1BA | c.157C>T (p.His53Tyr) c.-888+1581G>A (n.-888+1581G>A) | |
| 17 | g.4932762A>C | CA397314716 | CHRNE,GP1BA | c.158A>C (p.His53Pro) c.-888+1580T>G (n.-888+1580T>G) | |
| 17 | g.4932762A>G | CA397314718 | CHRNE,GP1BA | c.158A>G (p.His53Arg) c.-888+1580T>C (n.-888+1580T>C) | |
| 17 | g.4932762A>T | CA397314722 | CHRNE,GP1BA | c.158A>T (p.His53Leu) c.-888+1580T>A (n.-888+1580T>A) | |
| 17 | g.4932763C>A | CA397314725 | CHRNE,GP1BA | c.159C>A (p.His53Gln) c.-888+1579G>T (n.-888+1579G>T) | |
| 17 | g.4932763C= | CA2244625284 | CHRNE,GP1BA | c.159C= (p.His53=) c.-888+1579G= (n.-888+1579G=) | |
| 17 | g.4932763C>G | CA397314726 | CHRNE,GP1BA | c.159C>G (p.His53Gln) c.-888+1579G>C (n.-888+1579G>C) | |
| 17 | g.4932763C>T | CA497677341 | CHRNE,GP1BA | c.159C>T (p.His53=) c.-888+1579G>A (n.-888+1579G>A) | dbSNP gnomAD v4 |
| 17 | g.4932764C>A | CA397314727 | CHRNE,GP1BA | c.160C>A (p.Leu54Met) c.-888+1578G>T (n.-888+1578G>T) | |
| 17 | g.4932764C= | CA2244625285 | CHRNE,GP1BA | c.160C= (p.Leu54=) c.-888+1578G= (n.-888+1578G=) | |
| 17 | g.4932764C>G | CA397314728 | CHRNE,GP1BA | c.160C>G (p.Leu54Val) c.-888+1578G>C (n.-888+1578G>C) | |
| 17 | g.4932764C>T | CA287215717 | CHRNE,GP1BA | c.160C>T (p.Leu54=) c.-888+1578G>A (n.-888+1578G>A) | dbSNP |
| 17 | g.4932765T>A | CA397314735 | CHRNE,GP1BA | c.161T>A (p.Leu54Gln) c.-888+1577A>T (n.-888+1577A>T) | |
| 17 | g.4932765T>C | CA8314706 | CHRNE,GP1BA | c.161T>C (p.Leu54Pro) c.-888+1577A>G (n.-888+1577A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932765T>G | CA397314731 | CHRNE,GP1BA | c.161T>G (p.Leu54Arg) c.-888+1577A>C (n.-888+1577A>C) | |
| 17 | g.4932765T= | CA2244625286 | CHRNE,GP1BA | c.161T= (p.Leu54=) c.-888+1577A= (n.-888+1577A=) | |
| 17 | g.4932769_4932772del | CA658820730 | CHRNE,GP1BA | c.165_168del (p.Ser55ArgfsTer12) c.-888+1574_-888+1577del (n.-888+1574_-888+1577del) | ClinVar dbSNP |
| 17 | g.4932766G>A | CA497677345 | CHRNE,GP1BA | c.162G>A (p.Leu54=) c.-888+1576C>T (n.-888+1576C>T) | |
| 17 | g.4932766G>C | CA497677348 | CHRNE,GP1BA | c.162G>C (p.Leu54=) c.-888+1576C>G (n.-888+1576C>G) | gnomAD v4 |
| 17 | g.4932766G>T | CA497677346 | CHRNE,GP1BA | c.162G>T (p.Leu54=) c.-888+1576C>A (n.-888+1576C>A) | |
| 17 | g.4932768_4932773del | CA2580611764 | CHRNE,GP1BA | c.164_169del (p.Ser55_Glu56del) c.-888+1571_-888+1576del (n.-888+1571_-888+1576del) | |
| 17 | g.4932767A= | CA2244625287 | CHRNE,GP1BA | c.163A= (p.Ser55=) c.-888+1575T= (n.-888+1575T=) | |
| 17 | g.4932767A>C | CA397314742 | CHRNE,GP1BA | c.163A>C (p.Ser55Arg) c.-888+1575T>G (n.-888+1575T>G) | |
| 17 | g.4932767A>G | CA397314737 | CHRNE,GP1BA | c.163A>G (p.Ser55Gly) c.-888+1575T>C (n.-888+1575T>C) | dbSNP gnomAD v2 |
| 17 | g.4932767A>T | CA397314740 | CHRNE,GP1BA | c.163A>T (p.Ser55Cys) c.-888+1575T>A (n.-888+1575T>A) | |
| 17 | g.4932768G>A | CA397314755 | CHRNE,GP1BA | c.164G>A (p.Ser55Asn) c.-888+1574C>T (n.-888+1574C>T) | dbSNP gnomAD v4 |
| 17 | g.4932768G>C | CA397314756 | CHRNE,GP1BA | c.164G>C (p.Ser55Thr) c.-888+1574C>G (n.-888+1574C>G) | gnomAD v4 |
| 17 | g.4932768G= | CA2244625288 | CHRNE,GP1BA | c.164G= (p.Ser55=) c.-888+1574C= (n.-888+1574C=) | |
| 17 | g.4932768G>T | CA397314758 | CHRNE,GP1BA | c.164G>T (p.Ser55Ile) c.-888+1574C>A (n.-888+1574C>A) | |
| 17 | g.4932769T>A | CA397314764 | CHRNE,GP1BA | c.165T>A (p.Ser55Arg) c.-888+1573A>T (n.-888+1573A>T) | gnomAD v4 |
| 17 | g.4932769T>C | CA497677351 | CHRNE,GP1BA | c.165T>C (p.Ser55=) c.-888+1573A>G (n.-888+1573A>G) | gnomAD v4 |
| 17 | g.4932769T>G | CA397314767 | CHRNE,GP1BA | c.165T>G (p.Ser55Arg) c.-888+1573A>C (n.-888+1573A>C) | gnomAD v4 COSMIC |
| 17 | g.4932770G>A | CA397314770 | CHRNE,GP1BA | c.166G>A (p.Glu56Lys) c.-888+1572C>T (n.-888+1572C>T) | dbSNP gnomAD v4 |
| 17 | g.4932770G>C | CA397314772 | CHRNE,GP1BA | c.166G>C (p.Glu56Gln) c.-888+1572C>G (n.-888+1572C>G) | |
| 17 | g.4932770G= | CA2244625289 | CHRNE,GP1BA | c.166G= (p.Glu56=) c.-888+1572C= (n.-888+1572C=) | |
| 17 | g.4932770G>T | CA397314776 | CHRNE,GP1BA | c.166G>T (p.Glu56Ter) c.-888+1572C>A (n.-888+1572C>A) | |
| 17 | g.4932771A>C | CA397314780 | CHRNE,GP1BA | c.167A>C (p.Glu56Ala) c.-888+1571T>G (n.-888+1571T>G) | |
| 17 | g.4932771A>G | CA397314783 | CHRNE,GP1BA | c.167A>G (p.Glu56Gly) c.-888+1571T>C (n.-888+1571T>C) | |
| 17 | g.4932771A>T | CA397314806 | CHRNE,GP1BA | c.167A>T (p.Glu56Val) c.-888+1571T>A (n.-888+1571T>A) | |
| 17 | g.4932772G>A | CA497677353 | CHRNE,GP1BA | c.168G>A (p.Glu56=) c.-888+1570C>T (n.-888+1570C>T) | dbSNP |
| 17 | g.4932772G>C | CA397314812 | CHRNE,GP1BA | c.168G>C (p.Glu56Asp) c.-888+1570C>G (n.-888+1570C>G) | |
| 17 | g.4932772G= | CA2244625290 | CHRNE,GP1BA | c.168G= (p.Glu56=) c.-888+1570C= (n.-888+1570C=) | |
| 17 | g.4932772G>T | CA397314809 | CHRNE,GP1BA | c.168G>T (p.Glu56Asp) c.-888+1570C>A (n.-888+1570C>A) | |
| 17 | g.4932773A>C | CA397314821 | CHRNE,GP1BA | c.169A>C (p.Asn57His) c.-888+1569T>G (n.-888+1569T>G) | |
| 17 | g.4932773A>G | CA397314824 | CHRNE,GP1BA | c.169A>G (p.Asn57Asp) c.-888+1569T>C (n.-888+1569T>C) | ClinVar dbSNP |
| 17 | g.4932773A>T | CA397314833 | CHRNE,GP1BA | c.169A>T (p.Asn57Tyr) c.-888+1569T>A (n.-888+1569T>A) | |
| 17 | g.4932774A>C | CA397314836 | CHRNE,GP1BA | c.170A>C (p.Asn57Thr) c.-888+1568T>G (n.-888+1568T>G) | |
| 17 | g.4932774A>G | CA397314840 | CHRNE,GP1BA | c.170A>G (p.Asn57Ser) c.-888+1568T>C (n.-888+1568T>C) | |
| 17 | g.4932774A>T | CA397314843 | CHRNE,GP1BA | c.170A>T (p.Asn57Ile) c.-888+1568T>A (n.-888+1568T>A) | |
| 17 | g.4932775C>A | CA397314846 | CHRNE,GP1BA | c.171C>A (p.Asn57Lys) c.-888+1567G>T (n.-888+1567G>T) | ClinVar dbSNP |
| 17 | g.4932775C= | CA2244625291 | CHRNE,GP1BA | c.171C= (p.Asn57=) c.-888+1567G= (n.-888+1567G=) | |
| 17 | g.4932775C>G | CA397314850 | CHRNE,GP1BA | c.171C>G (p.Asn57Lys) c.-888+1567G>C (n.-888+1567G>C) | |
| 17 | g.4932775C>T | CA497677355 | CHRNE,GP1BA | c.171C>T (p.Asn57=) c.-888+1567G>A (n.-888+1567G>A) | |
| 17 | g.4932776C>A | CA397314851 | CHRNE,GP1BA | c.172C>A (p.Leu58Ile) c.-888+1566G>T (n.-888+1566G>T) | gnomAD v4 |
| 17 | g.4932776C= | CA2244625292 | CHRNE,GP1BA | c.172C= (p.Leu58=) c.-888+1566G= (n.-888+1566G=) | |
| 17 | g.4932776C>G | CA397314852 | CHRNE,GP1BA | c.172C>G (p.Leu58Val) c.-888+1566G>C (n.-888+1566G>C) | |
| 17 | g.4932776C>T | CA8314707 | CHRNE,GP1BA | c.172C>T (p.Leu58Phe) c.-888+1566G>A (n.-888+1566G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932777T>A | CA397314858 | CHRNE,GP1BA | c.173T>A (p.Leu58His) c.-888+1565A>T (n.-888+1565A>T) | |
| 17 | g.4932777T>C | CA397314859 | CHRNE,GP1BA | c.173T>C (p.Leu58Pro) c.-888+1565A>G (n.-888+1565A>G) | |
| 17 | g.4932777T>G | CA397314861 | CHRNE,GP1BA | c.173T>G (p.Leu58Arg) c.-888+1565A>C (n.-888+1565A>C) | |
| 17 | g.4932778C>A | CA497677359 | CHRNE,GP1BA | c.174C>A (p.Leu58=) c.-888+1564G>T (n.-888+1564G>T) | |
| 17 | g.4932778C= | CA2244625293 | CHRNE,GP1BA | c.174C= (p.Leu58=) c.-888+1564G= (n.-888+1564G=) | |
| 17 | g.4932778C>G | CA497677360 | CHRNE,GP1BA | c.174C>G (p.Leu58=) c.-888+1564G>C (n.-888+1564G>C) | |
| 17 | g.4932778C>T | CA8314708 | CHRNE,GP1BA | c.174C>T (p.Leu58=) c.-888+1564G>A (n.-888+1564G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932779C>A | CA397314867 | CHRNE,GP1BA | c.175C>A (p.Leu59Met) c.-888+1563G>T (n.-888+1563G>T) | |
| 17 | g.4932779C>G | CA397314866 | CHRNE,GP1BA | c.175C>G (p.Leu59Val) c.-888+1563G>C (n.-888+1563G>C) | |
| 17 | g.4932779C>T | CA497677362 | CHRNE,GP1BA | c.175C>T (p.Leu59=) c.-888+1563G>A (n.-888+1563G>A) | |
| 17 | g.4932780T>A | CA397314871 | CHRNE,GP1BA | c.176T>A (p.Leu59Gln) c.-888+1562A>T (n.-888+1562A>T) | |
| 17 | g.4932780T>C | CA397314877 | CHRNE,GP1BA | c.176T>C (p.Leu59Pro) c.-888+1562A>G (n.-888+1562A>G) | ClinVar gnomAD v4 |
| 17 | g.4932780T>G | CA397314880 | CHRNE,GP1BA | c.176T>G (p.Leu59Arg) c.-888+1562A>C (n.-888+1562A>C) | |
| 17 | g.4932781G>A | CA497677363 | CHRNE,GP1BA | c.177G>A (p.Leu59=) c.-888+1561C>T (n.-888+1561C>T) | |
| 17 | g.4932781G>C | CA497677364 | CHRNE,GP1BA | c.177G>C (p.Leu59=) c.-888+1561C>G (n.-888+1561C>G) | |
| 17 | g.4932781G>T | CA497677365 | CHRNE,GP1BA | c.177G>T (p.Leu59=) c.-888+1561C>A (n.-888+1561C>A) | |
| 17 | g.4932782T>A | CA397314883 | CHRNE,GP1BA | c.178T>A (p.Tyr60Asn) c.-888+1560A>T (n.-888+1560A>T) | |
| 17 | g.4932782T>C | CA397314886 | CHRNE,GP1BA | c.178T>C (p.Tyr60His) c.-888+1560A>G (n.-888+1560A>G) | gnomAD v4 |
| 17 | g.4932782T>G | CA397314888 | CHRNE,GP1BA | c.178T>G (p.Tyr60Asp) c.-888+1560A>C (n.-888+1560A>C) | |
| 17 | g.4932783A>C | CA397314902 | CHRNE,GP1BA | c.179A>C (p.Tyr60Ser) c.-888+1559T>G (n.-888+1559T>G) | |
| 17 | g.4932783A>G | CA397314892 | CHRNE,GP1BA | c.179A>G (p.Tyr60Cys) c.-888+1559T>C (n.-888+1559T>C) | |
| 17 | g.4932783A>T | CA397314894 | CHRNE,GP1BA | c.179A>T (p.Tyr60Phe) c.-888+1559T>A (n.-888+1559T>A) | |
| 17 | g.4932784C>A | CA397314904 | CHRNE,GP1BA | c.180C>A (p.Tyr60Ter) c.-888+1558G>T (n.-888+1558G>T) | |
| 17 | g.4932784C>G | CA397314907 | CHRNE,GP1BA | c.180C>G (p.Tyr60Ter) c.-888+1558G>C (n.-888+1558G>C) | |
| 17 | g.4932784C>T | CA497677367 | CHRNE,GP1BA | c.180C>T (p.Tyr60=) c.-888+1558G>A (n.-888+1558G>A) | gnomAD v4 |
| 17 | g.4932785A= | CA2244625294 | CHRNE,GP1BA | c.181A= (p.Thr61=) c.-888+1557T= (n.-888+1557T=) | |
| 17 | g.4932785A>C | CA397314910 | CHRNE,GP1BA | c.181A>C (p.Thr61Pro) c.-888+1557T>G (n.-888+1557T>G) | |
| 17 | g.4932785A>G | CA397314914 | CHRNE,GP1BA | c.181A>G (p.Thr61Ala) c.-888+1557T>C (n.-888+1557T>C) | |
| 17 | g.4932785A>T | CA8314709 | CHRNE,GP1BA | c.181A>T (p.Thr61Ser) c.-888+1557T>A (n.-888+1557T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932786C>A | CA397314918 | CHRNE,GP1BA | c.182C>A (p.Thr61Asn) c.-888+1556G>T (n.-888+1556G>T) | |
| 17 | g.4932786C= | CA2244625295 | CHRNE,GP1BA | c.182C= (p.Thr61=) c.-888+1556G= (n.-888+1556G=) | |
| 17 | g.4932786C>G | CA397314925 | CHRNE,GP1BA | c.182C>G (p.Thr61Ser) c.-888+1556G>C (n.-888+1556G>C) | |
| 17 | g.4932786C>T | CA8314710 | CHRNE,GP1BA | c.182C>T (p.Thr61Ile) c.-888+1556G>A (n.-888+1556G>A) | dbSNP ExAC gnomAD v4 |
| 17 | g.4932787C>A | CA497677371 | CHRNE,GP1BA | c.183C>A (p.Thr61=) c.-888+1555G>T (n.-888+1555G>T) | |
| 17 | g.4932787C>G | CA497677373 | CHRNE,GP1BA | c.183C>G (p.Thr61=) c.-888+1555G>C (n.-888+1555G>C) | |
| 17 | g.4932787C>T | CA497677372 | CHRNE,GP1BA | c.183C>T (p.Thr61=) c.-888+1555G>A (n.-888+1555G>A) | gnomAD v4 |
| 17 | g.4932788T>A | CA397314929 | CHRNE,GP1BA | c.184T>A (p.Phe62Ile) c.-888+1554A>T (n.-888+1554A>T) | |
| 17 | g.4932788T>C | CA397314933 | CHRNE,GP1BA | c.184T>C (p.Phe62Leu) c.-888+1554A>G (n.-888+1554A>G) | dbSNP |
| 17 | g.4932788T>G | CA397314939 | CHRNE,GP1BA | c.184T>G (p.Phe62Val) c.-888+1554A>C (n.-888+1554A>C) | gnomAD v4 |
| 17 | g.4932788T= | CA2244625296 | CHRNE,GP1BA | c.184T= (p.Phe62=) c.-888+1554A= (n.-888+1554A=) | |
| 17 | g.4932788_4932789dup | CA2635578598 | CHRNE,GP1BA | c.184_185dup (p.Leu64ProfsTer5) c.-888+1553_-888+1554dup (n.-888+1553_-888+1554dup) | gnomAD v4 |
| 17 | g.4932789T>A | CA397314943 | CHRNE,GP1BA | c.185T>A (p.Phe62Tyr) c.-888+1553A>T (n.-888+1553A>T) | |
| 17 | g.4932789T>C | CA397314945 | CHRNE,GP1BA | c.185T>C (p.Phe62Ser) c.-888+1553A>G (n.-888+1553A>G) | |
| 17 | g.4932789T>G | CA397314948 | CHRNE,GP1BA | c.185T>G (p.Phe62Cys) c.-888+1553A>C (n.-888+1553A>C) | |
| 17 | g.4932790C>A | CA397314951 | CHRNE,GP1BA | c.186C>A (p.Phe62Leu) c.-888+1552G>T (n.-888+1552G>T) | |
| 17 | g.4932790C>G | CA397314954 | CHRNE,GP1BA | c.186C>G (p.Phe62Leu) c.-888+1552G>C (n.-888+1552G>C) | |
| 17 | g.4932790C>T | CA497677375 | CHRNE,GP1BA | c.186C>T (p.Phe62=) c.-888+1552G>A (n.-888+1552G>A) | |
| 17 | g.4932791T>A | CA397314957 | CHRNE,GP1BA | c.187T>A (p.Ser63Thr) c.-888+1551A>T (n.-888+1551A>T) | |
| 17 | g.4932791T>C | CA397314961 | CHRNE,GP1BA | c.187T>C (p.Ser63Pro) c.-888+1551A>G (n.-888+1551A>G) | |
| 17 | g.4932791T>G | CA397314966 | CHRNE,GP1BA | c.187T>G (p.Ser63Ala) c.-888+1551A>C (n.-888+1551A>C) | |
| 17 | g.4932791_4932792delinsTC | CA2244625297 | CHRNE,GP1BA | c.187_188delinsTC (p.Ser63=) c.-888+1550_-888+1551delinsGA (n.-888+1550_-888+1551delinsGA) | |
| 17 | g.4932792C>A | CA397314969 | CHRNE,GP1BA | c.188C>A (p.Ser63Tyr) c.-888+1550G>T (n.-888+1550G>T) | |
| 17 | g.4932792C= | CA2244625299 | CHRNE,GP1BA | c.188C= (p.Ser63=) c.-888+1550G= (n.-888+1550G=) | |
| 17 | g.4932792C>G | CA397314973 | CHRNE,GP1BA | c.188C>G (p.Ser63Cys) c.-888+1550G>C (n.-888+1550G>C) | |
| 17 | g.4932792C>T | CA8314711 | CHRNE,GP1BA | c.188C>T (p.Ser63Phe) c.-888+1550G>A (n.-888+1550G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932794del | CA2244625298 | CHRNE,GP1BA | c.190del (p.Leu64TrpfsTer4) c.-888+1550del (n.-888+1550del) | dbSNP |
| 17 | g.4932793C>A | CA497677378 | CHRNE,GP1BA | c.189C>A (p.Ser63=) c.-888+1549G>T (n.-888+1549G>T) | |
| 17 | g.4932793C= | CA2244625300 | CHRNE,GP1BA | c.189C= (p.Ser63=) c.-888+1549G= (n.-888+1549G=) | |
| 17 | g.4932793C>G | CA497677379 | CHRNE,GP1BA | c.189C>G (p.Ser63=) c.-888+1549G>C (n.-888+1549G>C) | |
| 17 | g.4932793C>T | CA8314712 | CHRNE,GP1BA | c.189C>T (p.Ser63=) c.-888+1549G>A (n.-888+1549G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932794C>A | CA397314991 | CHRNE,GP1BA | c.190C>A (p.Leu64Met) c.-888+1548G>T (n.-888+1548G>T) | |
| 17 | g.4932794C>G | CA397314996 | CHRNE,GP1BA | c.190C>G (p.Leu64Val) c.-888+1548G>C (n.-888+1548G>C) | |
| 17 | g.4932794C>T | CA497677381 | CHRNE,GP1BA | c.190C>T (p.Leu64=) c.-888+1548G>A (n.-888+1548G>A) | |
| 17 | g.4932795T>A | CA397315004 | CHRNE,GP1BA | c.191T>A (p.Leu64Gln) c.-888+1547A>T (n.-888+1547A>T) | |
| 17 | g.4932795T>C | CA397315007 | CHRNE,GP1BA | c.191T>C (p.Leu64Pro) c.-888+1547A>G (n.-888+1547A>G) | ClinVar dbSNP |
| 17 | g.4932795T>G | CA397315010 | CHRNE,GP1BA | c.191T>G (p.Leu64Arg) c.-888+1547A>C (n.-888+1547A>C) | |
| 17 | g.4932796G>A | CA8314713 | CHRNE,GP1BA | c.192G>A (p.Leu64=) c.-888+1546C>T (n.-888+1546C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932796G>C | CA497677382 | CHRNE,GP1BA | c.192G>C (p.Leu64=) c.-888+1546C>G (n.-888+1546C>G) | |
| 17 | g.4932796G= | CA2244625301 | CHRNE,GP1BA | c.192G= (p.Leu64=) c.-888+1546C= (n.-888+1546C=) | |
| 17 | g.4932796G>T | CA497677383 | CHRNE,GP1BA | c.192G>T (p.Leu64=) c.-888+1546C>A (n.-888+1546C>A) | |
| 17 | g.4932797G>A | CA397315016 | CHRNE,GP1BA | c.193G>A (p.Ala65Thr) c.-888+1545C>T (n.-888+1545C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932797G>C | CA397315018 | CHRNE,GP1BA | c.193G>C (p.Ala65Pro) c.-888+1545C>G (n.-888+1545C>G) | |
| 17 | g.4932797G= | CA2244625302 | CHRNE,GP1BA | c.193G= (p.Ala65=) c.-888+1545C= (n.-888+1545C=) | |
| 17 | g.4932797G>T | CA397315020 | CHRNE,GP1BA | c.193G>T (p.Ala65Ser) c.-888+1545C>A (n.-888+1545C>A) | |
| 17 | g.4932798C>A | CA397315031 | CHRNE,GP1BA | c.194C>A (p.Ala65Glu) c.-888+1544G>T (n.-888+1544G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932798C= | CA2244625303 | CHRNE,GP1BA | c.194C= (p.Ala65=) c.-888+1544G= (n.-888+1544G=) | |
| 17 | g.4932798C>G | CA397315033 | CHRNE,GP1BA | c.194C>G (p.Ala65Gly) c.-888+1544G>C (n.-888+1544G>C) | |
| 17 | g.4932798C>T | CA397315035 | CHRNE,GP1BA | c.194C>T (p.Ala65Val) c.-888+1544G>A (n.-888+1544G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932799A>C | CA497677387 | CHRNE,GP1BA | c.195A>C (p.Ala65=) c.-888+1543T>G (n.-888+1543T>G) | |
| 17 | g.4932799A>G | CA497677388 | CHRNE,GP1BA | c.195A>G (p.Ala65=) c.-888+1543T>C (n.-888+1543T>C) | |
| 17 | g.4932799A>T | CA497677389 | CHRNE,GP1BA | c.195A>T (p.Ala65=) c.-888+1543T>A (n.-888+1543T>A) | |
| 17 | g.4932800A>C | CA397315048 | CHRNE,GP1BA | c.196A>C (p.Thr66Pro) c.-888+1542T>G (n.-888+1542T>G) | |
| 17 | g.4932800A>G | CA397315040 | CHRNE,GP1BA | c.196A>G (p.Thr66Ala) c.-888+1542T>C (n.-888+1542T>C) | |
| 17 | g.4932800A>T | CA397315037 | CHRNE,GP1BA | c.196A>T (p.Thr66Ser) c.-888+1542T>A (n.-888+1542T>A) | |
| 17 | g.4932800_4932801delinsAC | CA2244625304 | CHRNE,GP1BA | c.196_197delinsAC (p.Thr66=) c.-888+1541_-888+1542delinsGT (n.-888+1541_-888+1542delinsGT) | |
| 17 | g.4932801C>A | CA397315051 | CHRNE,GP1BA | c.197C>A (p.Thr66Asn) c.-888+1541G>T (n.-888+1541G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932801C= | CA2244625305 | CHRNE,GP1BA | c.197C= (p.Thr66=) c.-888+1541G= (n.-888+1541G=) | |
| 17 | g.4932801C>G | CA397315054 | CHRNE,GP1BA | c.197C>G (p.Thr66Ser) c.-888+1541G>C (n.-888+1541G>C) | |
| 17 | g.4932801C>T | CA8314715 | CHRNE,GP1BA | c.197C>T (p.Thr66Ile) c.-888+1541G>A (n.-888+1541G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932803del | CA8314714 | CHRNE,GP1BA | c.199del (p.Leu67Ter) c.-888+1541del (n.-888+1541del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932802C>A | CA8314717 | CHRNE,GP1BA | c.198C>A (p.Thr66=) c.-888+1540G>T (n.-888+1540G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.4932802C= | CA2244625306 | CHRNE,GP1BA | c.198C= (p.Thr66=) c.-888+1540G= (n.-888+1540G=) | |
| 17 | g.4932802C>G | CA497677391 | CHRNE,GP1BA | c.198C>G (p.Thr66=) c.-888+1540G>C (n.-888+1540G>C) | |
| 17 | g.4932802C>T | CA8314716 | CHRNE,GP1BA | c.198C>T (p.Thr66=) c.-888+1540G>A (n.-888+1540G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932803C>A | CA397315064 | CHRNE,GP1BA | c.199C>A (p.Leu67Met) c.-888+1539G>T (n.-888+1539G>T) | |
| 17 | g.4932803C= | CA2244625307 | CHRNE,GP1BA | c.199C= (p.Leu67=) c.-888+1539G= (n.-888+1539G=) | |
| 17 | g.4932803C>G | CA8314718 | CHRNE,GP1BA | c.199C>G (p.Leu67Val) c.-888+1539G>C (n.-888+1539G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932803C>T | CA497677392 | CHRNE,GP1BA | c.199C>T (p.Leu67=) c.-888+1539G>A (n.-888+1539G>A) | |
| 17 | g.4932804T>A | CA397315070 | CHRNE,GP1BA | c.200T>A (p.Leu67Gln) c.-888+1538A>T (n.-888+1538A>T) | |
| 17 | g.4932804T>C | CA397315074 | CHRNE,GP1BA | c.200T>C (p.Leu67Pro) c.-888+1538A>G (n.-888+1538A>G) | |
| 17 | g.4932804T>G | CA397315076 | CHRNE,GP1BA | c.200T>G (p.Leu67Arg) c.-888+1538A>C (n.-888+1538A>C) | ClinVar dbSNP |
| 17 | g.4932804T= | CA2244625308 | CHRNE,GP1BA | c.200T= (p.Leu67=) c.-888+1538A= (n.-888+1538A=) | |
| 17 | g.4932805G>A | CA497677394 | CHRNE,GP1BA | c.201G>A (p.Leu67=) c.-888+1537C>T (n.-888+1537C>T) | |
| 17 | g.4932805G>C | CA497677395 | CHRNE,GP1BA | c.201G>C (p.Leu67=) c.-888+1537C>G (n.-888+1537C>G) | gnomAD v4 |
| 17 | g.4932805G>T | CA497677397 | CHRNE,GP1BA | c.201G>T (p.Leu67=) c.-888+1537C>A (n.-888+1537C>A) | |
| 17 | g.4932806A>C | CA397315081 | CHRNE,GP1BA | c.202A>C (p.Met68Leu) c.-888+1536T>G (n.-888+1536T>G) | |
| 17 | g.4932806A>G | CA397315083 | CHRNE,GP1BA | c.202A>G (p.Met68Val) c.-888+1536T>C (n.-888+1536T>C) | |
| 17 | g.4932806A>T | CA397315086 | CHRNE,GP1BA | c.202A>T (p.Met68Leu) c.-888+1536T>A (n.-888+1536T>A) | |
| 17 | g.4932807T>A | CA397315093 | CHRNE,GP1BA | c.203T>A (p.Met68Lys) c.-888+1535A>T (n.-888+1535A>T) | |
| 17 | g.4932807T>C | CA397315096 | CHRNE,GP1BA | c.203T>C (p.Met68Thr) c.-888+1535A>G (n.-888+1535A>G) | |
| 17 | g.4932807T>G | CA397315090 | CHRNE,GP1BA | c.203T>G (p.Met68Arg) c.-888+1535A>C (n.-888+1535A>C) | |
| 17 | g.4932808G>A | CA397315099 | CHRNE,GP1BA | c.204G>A (p.Met68Ile) c.-888+1534C>T (n.-888+1534C>T) | |
| 17 | g.4932808G>C | CA397315102 | CHRNE,GP1BA | c.204G>C (p.Met68Ile) c.-888+1534C>G (n.-888+1534C>G) | |
| 17 | g.4932808G>T | CA397315104 | CHRNE,GP1BA | c.204G>T (p.Met68Ile) c.-888+1534C>A (n.-888+1534C>A) | |
| 17 | g.4932809C>A | CA397315108 | CHRNE,GP1BA | c.205C>A (p.Pro69Thr) c.-888+1533G>T (n.-888+1533G>T) | dbSNP gnomAD v4 |
| 17 | g.4932809C= | CA2244625309 | CHRNE,GP1BA | c.205C= (p.Pro69=) c.-888+1533G= (n.-888+1533G=) | |
| 17 | g.4932809C>G | CA397315126 | CHRNE,GP1BA | c.205C>G (p.Pro69Ala) c.-888+1533G>C (n.-888+1533G>C) | |
| 17 | g.4932809C>T | CA397315127 | CHRNE,GP1BA | c.205C>T (p.Pro69Ser) c.-888+1533G>A (n.-888+1533G>A) | |
| 17 | g.4932810C>A | CA397315130 | CHRNE,GP1BA | c.206C>A (p.Pro69His) c.-888+1532G>T (n.-888+1532G>T) | |
| 17 | g.4932810C= | CA2244625310 | CHRNE,GP1BA | c.206C= (p.Pro69=) c.-888+1532G= (n.-888+1532G=) | |
| 17 | g.4932810C>G | CA397315132 | CHRNE,GP1BA | c.206C>G (p.Pro69Arg) c.-888+1532G>C (n.-888+1532G>C) | |
| 17 | g.4932810C>T | CA8314719 | CHRNE,GP1BA | c.206C>T (p.Pro69Leu) c.-888+1532G>A (n.-888+1532G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932811T>A | CA497677401 | CHRNE,GP1BA | c.207T>A (p.Pro69=) c.-888+1531A>T (n.-888+1531A>T) | |
| 17 | g.4932811T>C | CA497677402 | CHRNE,GP1BA | c.207T>C (p.Pro69=) c.-888+1531A>G (n.-888+1531A>G) | gnomAD v4 |
| 17 | g.4932811T>G | CA497677403 | CHRNE,GP1BA | c.207T>G (p.Pro69=) c.-888+1531A>C (n.-888+1531A>C) | |
| 17 | g.4932812T>A | CA397315140 | CHRNE,GP1BA | c.208T>A (p.Tyr70Asn) c.-888+1530A>T (n.-888+1530A>T) | |
| 17 | g.4932812T>C | CA397315141 | CHRNE,GP1BA | c.208T>C (p.Tyr70His) c.-888+1530A>G (n.-888+1530A>G) | |
| 17 | g.4932812T>G | CA397315143 | CHRNE,GP1BA | c.208T>G (p.Tyr70Asp) c.-888+1530A>C (n.-888+1530A>C) | |
| 17 | g.4932812T= | CA2244625311 | CHRNE,GP1BA | c.208T= (p.Tyr70=) c.-888+1530A= (n.-888+1530A=) | |
| 17 | g.4932813A>C | CA397315147 | CHRNE,GP1BA | c.209A>C (p.Tyr70Ser) c.-888+1529T>G (n.-888+1529T>G) | |
| 17 | g.4932813A>G | CA397315154 | CHRNE,GP1BA | c.209A>G (p.Tyr70Cys) c.-888+1529T>C (n.-888+1529T>C) | |
| 17 | g.4932813A>T | CA397315150 | CHRNE,GP1BA | c.209A>T (p.Tyr70Phe) c.-888+1529T>A (n.-888+1529T>A) | |
| 17 | g.4932813dup | CA8314720 | CHRNE,GP1BA | c.209dup (p.Tyr70Ter) c.-888+1529dup (n.-888+1529dup) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.4932815_4932816del | CA2733116488 | CHRNE,GP1BA | c.211_212del (p.Thr71SerfsTer9) c.-888+1528_-888+1529del (n.-888+1528_-888+1529del) | dbSNP |
| 17 | g.4932814C>A | CA397315157 | CHRNE,GP1BA | c.210C>A (p.Tyr70Ter) c.-888+1528G>T (n.-888+1528G>T) | |
| 17 | g.4932814C= | CA2244625312 | CHRNE,GP1BA | c.210C= (p.Tyr70=) c.-888+1528G= (n.-888+1528G=) | |
| 17 | g.4932814C>G | CA397315159 | CHRNE,GP1BA | c.210C>G (p.Tyr70Ter) c.-888+1528G>C (n.-888+1528G>C) | |
| 17 | g.4932814C>T | CA497677410 | CHRNE,GP1BA | c.210C>T (p.Tyr70=) c.-888+1528G>A (n.-888+1528G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932815A>C | CA397315162 | CHRNE,GP1BA | c.211A>C (p.Thr71Pro) c.-888+1527T>G (n.-888+1527T>G) | gnomAD v4 |
| 17 | g.4932815A>G | CA397315164 | CHRNE,GP1BA | c.211A>G (p.Thr71Ala) c.-888+1527T>C (n.-888+1527T>C) | |
| 17 | g.4932815A>T | CA397315166 | CHRNE,GP1BA | c.211A>T (p.Thr71Ser) c.-888+1527T>A (n.-888+1527T>A) | |
| 17 | g.4932816C>A | CA397315170 | CHRNE,GP1BA | c.212C>A (p.Thr71Asn) c.-888+1526G>T (n.-888+1526G>T) | |
| 17 | g.4932816C>G | CA397315172 | CHRNE,GP1BA | c.212C>G (p.Thr71Ser) c.-888+1526G>C (n.-888+1526G>C) | |
| 17 | g.4932816C>T | CA397315174 | CHRNE,GP1BA | c.212C>T (p.Thr71Ile) c.-888+1526G>A (n.-888+1526G>A) | |
| 17 | g.4932817T>A | CA497677412 | CHRNE,GP1BA | c.213T>A (p.Thr71=) c.-888+1525A>T (n.-888+1525A>T) | |
| 17 | g.4932817T>C | CA497677414 | CHRNE,GP1BA | c.213T>C (p.Thr71=) c.-888+1525A>G (n.-888+1525A>G) | |
| 17 | g.4932817T>G | CA497677415 | CHRNE,GP1BA | c.213T>G (p.Thr71=) c.-888+1525A>C (n.-888+1525A>C) | |
| 17 | g.4932818C>A | CA397315178 | CHRNE,GP1BA | c.214C>A (p.Arg72Ser) c.-888+1524G>T (n.-888+1524G>T) | |
| 17 | g.4932818C= | CA2244625313 | CHRNE,GP1BA | c.214C= (p.Arg72=) c.-888+1524G= (n.-888+1524G=) | |
| 17 | g.4932818C>G | CA397315180 | CHRNE,GP1BA | c.214C>G (p.Arg72Gly) c.-888+1524G>C (n.-888+1524G>C) | |
| 17 | g.4932818C>T | CA397315183 | CHRNE,GP1BA | c.214C>T (p.Arg72Cys) c.-888+1524G>A (n.-888+1524G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932819G>A | CA8314721 | CHRNE,GP1BA | c.215G>A (p.Arg72His) c.-888+1523C>T (n.-888+1523C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932819G>C | CA397315188 | CHRNE,GP1BA | c.215G>C (p.Arg72Pro) c.-888+1523C>G (n.-888+1523C>G) | |
| 17 | g.4932819G= | CA2244625314 | CHRNE,GP1BA | c.215G= (p.Arg72=) c.-888+1523C= (n.-888+1523C=) | |
| 17 | g.4932819G>T | CA397315186 | CHRNE,GP1BA | c.215G>T (p.Arg72Leu) c.-888+1523C>A (n.-888+1523C>A) | |
| 17 | g.4932820C>A | CA497677417 | CHRNE,GP1BA | c.216C>A (p.Arg72=) c.-888+1522G>T (n.-888+1522G>T) | |
| 17 | g.4932820C= | CA2244625315 | CHRNE,GP1BA | c.216C= (p.Arg72=) c.-888+1522G= (n.-888+1522G=) | |
| 17 | g.4932820C>G | CA497677419 | CHRNE,GP1BA | c.216C>G (p.Arg72=) c.-888+1522G>C (n.-888+1522G>C) | |
| 17 | g.4932820C>T | CA497677421 | CHRNE,GP1BA | c.216C>T (p.Arg72=) c.-888+1522G>A (n.-888+1522G>A) | dbSNP |
| 17 | g.4932821C>A | CA397315190 | CHRNE,GP1BA | c.217C>A (p.Leu73Ile) c.-888+1521G>T (n.-888+1521G>T) | |
| 17 | g.4932821C= | CA2244625316 | CHRNE,GP1BA | c.217C= (p.Leu73=) c.-888+1521G= (n.-888+1521G=) | |
| 17 | g.4932821C>G | CA397315189 | CHRNE,GP1BA | c.217C>G (p.Leu73Val) c.-888+1521G>C (n.-888+1521G>C) | |
| 17 | g.4932821C>T | CA116660 | CHRNE,GP1BA | c.217C>T (p.Leu73Phe) c.-888+1521G>A (n.-888+1521G>A) | ClinVar dbSNP |