| 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) |