| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49655139G>A | CA257987 | CHAT | c.1679G>A (p.Arg560His) c.*516G>A (n.*516G>A) n.316G>A c.542G>A (p.Arg181His) c.1325G>A (p.Arg442His) c.1433G>A (p.Arg478His) c.*1410G>A (n.*1410G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655139G>C | CA376747352 | CHAT | c.1679G>C (p.Arg560Pro) c.*516G>C (n.*516G>C) n.316G>C c.542G>C (p.Arg181Pro) c.1325G>C (p.Arg442Pro) c.1433G>C (p.Arg478Pro) c.*1410G>C (n.*1410G>C) | |
| 10 | g.49655139G= | CA1908834653 | CHAT | c.1679G= (p.Arg560=) c.*516G= (n.*516G=) n.316G= c.542G= (p.Arg181=) c.1325G= (p.Arg442=) c.1433G= (p.Arg478=) c.*1410G= (n.*1410G=) | |
| 10 | g.49655139G>T | CA376747349 | CHAT | c.1679G>T (p.Arg560Leu) c.*516G>T (n.*516G>T) n.316G>T c.542G>T (p.Arg181Leu) c.1325G>T (p.Arg442Leu) c.1433G>T (p.Arg478Leu) c.*1410G>T (n.*1410G>T) | |
| 10 | g.49655140C>A | CA469605661 | CHAT | c.1680C>A (p.Arg560=) c.*517C>A (n.*517C>A) n.317C>A c.543C>A (p.Arg181=) c.1326C>A (p.Arg442=) c.1434C>A (p.Arg478=) c.*1411C>A (n.*1411C>A) | |
| 10 | g.49655140C>G | CA469605662 | CHAT | c.1680C>G (p.Arg560=) c.*517C>G (n.*517C>G) n.317C>G c.543C>G (p.Arg181=) c.1326C>G (p.Arg442=) c.1434C>G (p.Arg478=) c.*1411C>G (n.*1411C>G) | |
| 10 | g.49655140C>T | CA469605663 | CHAT | c.1680C>T (p.Arg560=) c.*517C>T (n.*517C>T) n.317C>T c.543C>T (p.Arg181=) c.1326C>T (p.Arg442=) c.1434C>T (p.Arg478=) c.*1411C>T (n.*1411C>T) | |
| 10 | g.49655141C>A | CA469605665 | CHAT | c.1681C>A (p.Arg561=) c.*518C>A (n.*518C>A) n.318C>A c.544C>A (p.Arg182=) c.1327C>A (p.Arg443=) c.1435C>A (p.Arg479=) c.*1412C>A (n.*1412C>A) | |
| 10 | g.49655141C= | CA1908834654 | CHAT | c.1681C= (p.Arg561=) c.*518C= (n.*518C=) n.318C= c.544C= (p.Arg182=) c.1327C= (p.Arg443=) c.1435C= (p.Arg479=) c.*1412C= (n.*1412C=) | |
| 10 | g.49655141C>G | CA376747355 | CHAT | c.1681C>G (p.Arg561Gly) c.*518C>G (n.*518C>G) n.318C>G c.544C>G (p.Arg182Gly) c.1327C>G (p.Arg443Gly) c.1435C>G (p.Arg479Gly) c.*1412C>G (n.*1412C>G) | dbSNP gnomAD v4 |
| 10 | g.49655141C>T | CA376747358 | CHAT | c.1681C>T (p.Arg561Ter) c.*518C>T (n.*518C>T) n.318C>T c.544C>T (p.Arg182Ter) c.1327C>T (p.Arg443Ter) c.1435C>T (p.Arg479Ter) c.*1412C>T (n.*1412C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655142G>A | CA152346 | CHAT | c.1682G>A (p.Arg561Gln) c.*519G>A (n.*519G>A) n.319G>A c.545G>A (p.Arg182Gln) c.1328G>A (p.Arg443Gln) c.1436G>A (p.Arg479Gln) c.*1413G>A (n.*1413G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655142G>C | CA376747363 | CHAT | c.1682G>C (p.Arg561Pro) c.*519G>C (n.*519G>C) n.319G>C c.545G>C (p.Arg182Pro) c.1328G>C (p.Arg443Pro) c.1436G>C (p.Arg479Pro) c.*1413G>C (n.*1413G>C) | |
| 10 | g.49655142G= | CA1908834655 | CHAT | c.1682G= (p.Arg561=) c.*519G= (n.*519G=) n.319G= c.545G= (p.Arg182=) c.1328G= (p.Arg443=) c.1436G= (p.Arg479=) c.*1413G= (n.*1413G=) | |
| 10 | g.49655142G>T | CA376747367 | CHAT | c.1682G>T (p.Arg561Leu) c.*519G>T (n.*519G>T) n.319G>T c.545G>T (p.Arg182Leu) c.1328G>T (p.Arg443Leu) c.1436G>T (p.Arg479Leu) c.*1413G>T (n.*1413G>T) | gnomAD v4 |
| 10 | g.49655143A>C | CA469605667 | CHAT | c.1683A>C (p.Arg561=) c.*520A>C (n.*520A>C) n.320A>C c.546A>C (p.Arg182=) c.1329A>C (p.Arg443=) c.1437A>C (p.Arg479=) c.*1414A>C (n.*1414A>C) | |
| 10 | g.49655143A>G | CA469605666 | CHAT | c.1683A>G (p.Arg561=) c.*520A>G (n.*520A>G) n.320A>G c.546A>G (p.Arg182=) c.1329A>G (p.Arg443=) c.1437A>G (p.Arg479=) c.*1414A>G (n.*1414A>G) | |
| 10 | g.49655143A>T | CA469605668 | CHAT | c.1683A>T (p.Arg561=) c.*520A>T (n.*520A>T) n.320A>T c.546A>T (p.Arg182=) c.1329A>T (p.Arg443=) c.1437A>T (p.Arg479=) c.*1414A>T (n.*1414A>T) | |
| 10 | g.49655144T>A | CA376747371 | CHAT | c.1684T>A (p.Phe562Ile) c.*521T>A (n.*521T>A) n.321T>A c.547T>A (p.Phe183Ile) c.1330T>A (p.Phe444Ile) c.1438T>A (p.Phe480Ile) c.*1415T>A (n.*1415T>A) | |
| 10 | g.49655144T>C | CA376747428 | CHAT | c.1684T>C (p.Phe562Leu) c.*521T>C (n.*521T>C) n.321T>C c.547T>C (p.Phe183Leu) c.1330T>C (p.Phe444Leu) c.1438T>C (p.Phe480Leu) c.*1415T>C (n.*1415T>C) | gnomAD v4 |
| 10 | g.49655144T>G | CA376747430 | CHAT | c.1684T>G (p.Phe562Val) c.*521T>G (n.*521T>G) n.321T>G c.547T>G (p.Phe183Val) c.1330T>G (p.Phe444Val) c.1438T>G (p.Phe480Val) c.*1415T>G (n.*1415T>G) | |
| 10 | g.49655145T>A | CA376747436 | CHAT | c.1685T>A (p.Phe562Tyr) c.*522T>A (n.*522T>A) n.322T>A c.548T>A (p.Phe183Tyr) c.1331T>A (p.Phe444Tyr) c.1439T>A (p.Phe480Tyr) c.*1416T>A (n.*1416T>A) | |
| 10 | g.49655145T>C | CA376747439 | CHAT | c.1685T>C (p.Phe562Ser) c.*522T>C (n.*522T>C) n.322T>C c.548T>C (p.Phe183Ser) c.1331T>C (p.Phe444Ser) c.1439T>C (p.Phe480Ser) c.*1416T>C (n.*1416T>C) | gnomAD v4 |
| 10 | g.49655145T>G | CA376747443 | CHAT | c.1685T>G (p.Phe562Cys) c.*522T>G (n.*522T>G) n.322T>G c.548T>G (p.Phe183Cys) c.1331T>G (p.Phe444Cys) c.1439T>G (p.Phe480Cys) c.*1416T>G (n.*1416T>G) | |
| 10 | g.49655146C>A | CA376747447 | CHAT | c.1686C>A (p.Phe562Leu) c.*523C>A (n.*523C>A) n.323C>A c.549C>A (p.Phe183Leu) c.1332C>A (p.Phe444Leu) c.1440C>A (p.Phe480Leu) c.*1417C>A (n.*1417C>A) | |
| 10 | g.49655146C>G | CA376747451 | CHAT | c.1686C>G (p.Phe562Leu) c.*523C>G (n.*523C>G) n.323C>G c.549C>G (p.Phe183Leu) c.1332C>G (p.Phe444Leu) c.1440C>G (p.Phe480Leu) c.*1417C>G (n.*1417C>G) | |
| 10 | g.49655146C>T | CA469605670 | CHAT | c.1686C>T (p.Phe562=) c.*523C>T (n.*523C>T) n.323C>T c.549C>T (p.Phe183=) c.1332C>T (p.Phe444=) c.1440C>T (p.Phe480=) c.*1417C>T (n.*1417C>T) | |
| 10 | g.49655147C>A | CA376747455 | CHAT | c.1687C>A (p.Gln563Lys) c.*524C>A (n.*524C>A) n.324C>A c.550C>A (p.Gln184Lys) c.1333C>A (p.Gln445Lys) c.1441C>A (p.Gln481Lys) c.*1418C>A (n.*1418C>A) | |
| 10 | g.49655147C>G | CA376747462 | CHAT | c.1687C>G (p.Gln563Glu) c.*524C>G (n.*524C>G) n.324C>G c.550C>G (p.Gln184Glu) c.1333C>G (p.Gln445Glu) c.1441C>G (p.Gln481Glu) c.*1418C>G (n.*1418C>G) | |
| 10 | g.49655147C>T | CA376747458 | CHAT | c.1687C>T (p.Gln563Ter) c.*524C>T (n.*524C>T) n.324C>T c.550C>T (p.Gln184Ter) c.1333C>T (p.Gln445Ter) c.1441C>T (p.Gln481Ter) c.*1418C>T (n.*1418C>T) | gnomAD v4 |
| 10 | g.49655148A>C | CA376747467 | CHAT | c.1688A>C (p.Gln563Pro) c.*525A>C (n.*525A>C) n.325A>C c.551A>C (p.Gln184Pro) c.1334A>C (p.Gln445Pro) c.1442A>C (p.Gln481Pro) c.*1419A>C (n.*1419A>C) | |
| 10 | g.49655148A>G | CA376747470 | CHAT | c.1688A>G (p.Gln563Arg) c.*525A>G (n.*525A>G) n.325A>G c.551A>G (p.Gln184Arg) c.1334A>G (p.Gln445Arg) c.1442A>G (p.Gln481Arg) c.*1419A>G (n.*1419A>G) | |
| 10 | g.49655148A>T | CA376747476 | CHAT | c.1688A>T (p.Gln563Leu) c.*525A>T (n.*525A>T) n.325A>T c.551A>T (p.Gln184Leu) c.1334A>T (p.Gln445Leu) c.1442A>T (p.Gln481Leu) c.*1419A>T (n.*1419A>T) | |
| 10 | g.49655149G>A | CA469605672 | CHAT | c.1689G>A (p.Gln563=) c.*526G>A (n.*526G>A) n.326G>A c.552G>A (p.Gln184=) c.1335G>A (p.Gln445=) c.1443G>A (p.Gln481=) c.*1420G>A (n.*1420G>A) | |
| 10 | g.49655149G>C | CA376747478 | CHAT | c.1689G>C (p.Gln563His) c.*526G>C (n.*526G>C) n.326G>C c.552G>C (p.Gln184His) c.1335G>C (p.Gln445His) c.1443G>C (p.Gln481His) c.*1420G>C (n.*1420G>C) | |
| 10 | g.49655149G>T | CA376747481 | CHAT | c.1689G>T (p.Gln563His) c.*526G>T (n.*526G>T) n.326G>T c.552G>T (p.Gln184His) c.1335G>T (p.Gln445His) c.1443G>T (p.Gln481His) c.*1420G>T (n.*1420G>T) | |
| 10 | g.49655150G>A | CA376747491 | CHAT | c.1690G>A (p.Glu564Lys) c.*527G>A (n.*527G>A) n.327G>A c.553G>A (p.Glu185Lys) c.1336G>A (p.Glu446Lys) c.1444G>A (p.Glu482Lys) c.*1421G>A (n.*1421G>A) | |
| 10 | g.49655150G>C | CA376747493 | CHAT | c.1690G>C (p.Glu564Gln) c.*527G>C (n.*527G>C) n.327G>C c.553G>C (p.Glu185Gln) c.1336G>C (p.Glu446Gln) c.1444G>C (p.Glu482Gln) c.*1421G>C (n.*1421G>C) | |
| 10 | g.49655150G>T | CA376747497 | CHAT | c.1690G>T (p.Glu564Ter) c.*527G>T (n.*527G>T) n.327G>T c.553G>T (p.Glu185Ter) c.1336G>T (p.Glu446Ter) c.1444G>T (p.Glu482Ter) c.*1421G>T (n.*1421G>T) | |
| 10 | g.49655151A>C | CA376747500 | CHAT | c.1691A>C (p.Glu564Ala) c.*528A>C (n.*528A>C) n.328A>C c.554A>C (p.Glu185Ala) c.1337A>C (p.Glu446Ala) c.1445A>C (p.Glu482Ala) c.*1422A>C (n.*1422A>C) | gnomAD v4 |
| 10 | g.49655151A>G | CA376747503 | CHAT | c.1691A>G (p.Glu564Gly) c.*528A>G (n.*528A>G) n.328A>G c.554A>G (p.Glu185Gly) c.1337A>G (p.Glu446Gly) c.1445A>G (p.Glu482Gly) c.*1422A>G (n.*1422A>G) | gnomAD v4 |
| 10 | g.49655151A>T | CA376747504 | CHAT | c.1691A>T (p.Glu564Val) c.*528A>T (n.*528A>T) n.328A>T c.554A>T (p.Glu185Val) c.1337A>T (p.Glu446Val) c.1445A>T (p.Glu482Val) c.*1422A>T (n.*1422A>T) | |
| 10 | g.49655152G>A | CA469605675 | CHAT | c.1692G>A (p.Glu564=) c.*529G>A (n.*529G>A) n.329G>A c.555G>A (p.Glu185=) c.1338G>A (p.Glu446=) c.1446G>A (p.Glu482=) c.*1423G>A (n.*1423G>A) | |
| 10 | g.49655152G>C | CA376747505 | CHAT | c.1692G>C (p.Glu564Asp) c.*529G>C (n.*529G>C) n.329G>C c.555G>C (p.Glu185Asp) c.1338G>C (p.Glu446Asp) c.1446G>C (p.Glu482Asp) c.*1423G>C (n.*1423G>C) | |
| 10 | g.49655152G>T | CA376747506 | CHAT | c.1692G>T (p.Glu564Asp) c.*529G>T (n.*529G>T) n.329G>T c.555G>T (p.Glu185Asp) c.1338G>T (p.Glu446Asp) c.1446G>T (p.Glu482Asp) c.*1423G>T (n.*1423G>T) | |
| 10 | g.49655153G>A | CA376747509 | CHAT | c.1693G>A (p.Gly565Arg) c.*530G>A (n.*530G>A) n.330G>A c.556G>A (p.Gly186Arg) c.1339G>A (p.Gly447Arg) c.1447G>A (p.Gly483Arg) c.*1424G>A (n.*1424G>A) | |
| 10 | g.49655153G>C | CA376747510 | CHAT | c.1693G>C (p.Gly565Arg) c.*530G>C (n.*530G>C) n.330G>C c.556G>C (p.Gly186Arg) c.1339G>C (p.Gly447Arg) c.1447G>C (p.Gly483Arg) c.*1424G>C (n.*1424G>C) | |
| 10 | g.49655153G>T | CA376747512 | CHAT | c.1693G>T (p.Gly565Ter) c.*530G>T (n.*530G>T) n.330G>T c.556G>T (p.Gly186Ter) c.1339G>T (p.Gly447Ter) c.1447G>T (p.Gly483Ter) c.*1424G>T (n.*1424G>T) | |
| 10 | g.49655154G>A | CA206641780 | CHAT | c.1694G>A (p.Gly565Glu) c.*531G>A (n.*531G>A) n.331G>A c.557G>A (p.Gly186Glu) c.1340G>A (p.Gly447Glu) c.1448G>A (p.Gly483Glu) c.*1425G>A (n.*1425G>A) | dbSNP COSMIC COSMIC |
| 10 | g.49655154G>C | CA376747522 | CHAT | c.1694G>C (p.Gly565Ala) c.*531G>C (n.*531G>C) n.331G>C c.557G>C (p.Gly186Ala) c.1340G>C (p.Gly447Ala) c.1448G>C (p.Gly483Ala) c.*1425G>C (n.*1425G>C) |