| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37505534del | CA16602265 | DYRK1A | c.1491del (p.Ala498ProfsTer?) c.1464del (p.Ala489ProfsTer?) c.1539del (p.Ala514ProfsTer?) n.906del n.4209del c.1377del (p.Ala460ProfsTer?) c.1404del (p.Ala469ProfsTer?) c.807del (p.Ala270ProfsTer?) c.1512del (p.Ala505ProfsTer?) c.1485del (p.Ala496ProfsTer?) | ClinVar dbSNP |
| 21 | g.37505534C>A | CA512328015 | DYRK1A | c.1491C>A (p.Pro497=) c.1464C>A (p.Pro488=) c.1539C>A (p.Pro513=) n.906C>A n.4209C>A c.1377C>A (p.Pro459=) c.1404C>A (p.Pro468=) c.807C>A (p.Pro269=) c.1512C>A (p.Pro504=) c.1485C>A (p.Pro495=) | ClinVar |
| 21 | g.37505534C= | CA2388503388 | DYRK1A | c.1491C= (p.Pro497=) c.1464C= (p.Pro488=) c.1539C= (p.Pro513=) n.906C= n.4209C= c.1377C= (p.Pro459=) c.1404C= (p.Pro468=) c.807C= (p.Pro269=) c.1512C= (p.Pro504=) c.1485C= (p.Pro495=) | |
| 21 | g.37505534C>G | CA512328016 | DYRK1A | c.1491C>G (p.Pro497=) c.1464C>G (p.Pro488=) c.1539C>G (p.Pro513=) n.906C>G n.4209C>G c.1377C>G (p.Pro459=) c.1404C>G (p.Pro468=) c.807C>G (p.Pro269=) c.1512C>G (p.Pro504=) c.1485C>G (p.Pro495=) | |
| 21 | g.37505534C>T | CA10023979 | DYRK1A | c.1491C>T (p.Pro497=) c.1464C>T (p.Pro488=) c.1539C>T (p.Pro513=) n.906C>T n.4209C>T c.1377C>T (p.Pro459=) c.1404C>T (p.Pro468=) c.807C>T (p.Pro269=) c.1512C>T (p.Pro504=) c.1485C>T (p.Pro495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 21 | g.37505535G>A | CA409938654 | DYRK1A | c.1492G>A (p.Ala498Thr) c.1465G>A (p.Ala489Thr) c.1540G>A (p.Ala514Thr) n.907G>A n.4210G>A c.1378G>A (p.Ala460Thr) c.1405G>A (p.Ala469Thr) c.808G>A (p.Ala270Thr) c.1513G>A (p.Ala505Thr) c.1486G>A (p.Ala496Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 21 | g.37505535G>C | CA409938655 | DYRK1A | c.1492G>C (p.Ala498Pro) c.1465G>C (p.Ala489Pro) c.1540G>C (p.Ala514Pro) n.907G>C n.4210G>C c.1378G>C (p.Ala460Pro) c.1405G>C (p.Ala469Pro) c.808G>C (p.Ala270Pro) c.1513G>C (p.Ala505Pro) c.1486G>C (p.Ala496Pro) | |
| 21 | g.37505535G= | CA2388503389 | DYRK1A | c.1492G= (p.Ala498=) c.1465G= (p.Ala489=) c.1540G= (p.Ala514=) n.907G= n.4210G= c.1378G= (p.Ala460=) c.1405G= (p.Ala469=) c.808G= (p.Ala270=) c.1513G= (p.Ala505=) c.1486G= (p.Ala496=) | |
| 21 | g.37505535G>T | CA10023980 | DYRK1A | c.1492G>T (p.Ala498Ser) c.1465G>T (p.Ala489Ser) c.1540G>T (p.Ala514Ser) n.907G>T n.4210G>T c.1378G>T (p.Ala460Ser) c.1405G>T (p.Ala469Ser) c.808G>T (p.Ala270Ser) c.1513G>T (p.Ala505Ser) c.1486G>T (p.Ala496Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37505536C>A | CA409938658 | DYRK1A | c.1493C>A (p.Ala498Asp) c.1466C>A (p.Ala489Asp) c.1541C>A (p.Ala514Asp) n.908C>A n.4211C>A c.1379C>A (p.Ala460Asp) c.1406C>A (p.Ala469Asp) c.809C>A (p.Ala270Asp) c.1514C>A (p.Ala505Asp) c.1487C>A (p.Ala496Asp) | |
| 21 | g.37505536C>G | CA409938656 | DYRK1A | c.1493C>G (p.Ala498Gly) c.1466C>G (p.Ala489Gly) c.1541C>G (p.Ala514Gly) n.908C>G n.4211C>G c.1379C>G (p.Ala460Gly) c.1406C>G (p.Ala469Gly) c.809C>G (p.Ala270Gly) c.1514C>G (p.Ala505Gly) c.1487C>G (p.Ala496Gly) | |
| 21 | g.37505536C>T | CA409938657 | DYRK1A | c.1493C>T (p.Ala498Val) c.1466C>T (p.Ala489Val) c.1541C>T (p.Ala514Val) n.908C>T n.4211C>T c.1379C>T (p.Ala460Val) c.1406C>T (p.Ala469Val) c.809C>T (p.Ala270Val) c.1514C>T (p.Ala505Val) c.1487C>T (p.Ala496Val) | |
| 21 | g.37505537C>A | CA512328017 | DYRK1A | c.1494C>A (p.Ala498=) c.1467C>A (p.Ala489=) c.1542C>A (p.Ala514=) n.909C>A n.4212C>A c.1380C>A (p.Ala460=) c.1407C>A (p.Ala469=) c.810C>A (p.Ala270=) c.1515C>A (p.Ala505=) c.1488C>A (p.Ala496=) | |
| 21 | g.37505537C>G | CA512328018 | DYRK1A | c.1494C>G (p.Ala498=) c.1467C>G (p.Ala489=) c.1542C>G (p.Ala514=) n.909C>G n.4212C>G c.1380C>G (p.Ala460=) c.1407C>G (p.Ala469=) c.810C>G (p.Ala270=) c.1515C>G (p.Ala505=) c.1488C>G (p.Ala496=) | |
| 21 | g.37505537C>T | CA512328019 | DYRK1A | c.1494C>T (p.Ala498=) c.1467C>T (p.Ala489=) c.1542C>T (p.Ala514=) n.909C>T n.4212C>T c.1380C>T (p.Ala460=) c.1407C>T (p.Ala469=) c.810C>T (p.Ala270=) c.1515C>T (p.Ala505=) c.1488C>T (p.Ala496=) | |
| 21 | g.37505538A>C | CA409938659 | DYRK1A | c.1495A>C (p.Met499Leu) c.1468A>C (p.Met490Leu) c.1543A>C (p.Met515Leu) n.910A>C n.4213A>C c.1381A>C (p.Met461Leu) c.1408A>C (p.Met470Leu) c.811A>C (p.Met271Leu) c.1516A>C (p.Met506Leu) c.1489A>C (p.Met497Leu) | gnomAD v4 |
| 21 | g.37505538A>G | CA409938660 | DYRK1A | c.1495A>G (p.Met499Val) c.1468A>G (p.Met490Val) c.1543A>G (p.Met515Val) n.910A>G n.4213A>G c.1381A>G (p.Met461Val) c.1408A>G (p.Met470Val) c.811A>G (p.Met271Val) c.1516A>G (p.Met506Val) c.1489A>G (p.Met497Val) | |
| 21 | g.37505538A>T | CA409938661 | DYRK1A | c.1495A>T (p.Met499Leu) c.1468A>T (p.Met490Leu) c.1543A>T (p.Met515Leu) n.910A>T n.4213A>T c.1381A>T (p.Met461Leu) c.1408A>T (p.Met470Leu) c.811A>T (p.Met271Leu) c.1516A>T (p.Met506Leu) c.1489A>T (p.Met497Leu) | |
| 21 | g.37505539T>A | CA409938662 | DYRK1A | c.1496T>A (p.Met499Lys) c.1469T>A (p.Met490Lys) c.1544T>A (p.Met515Lys) n.911T>A n.4214T>A c.1382T>A (p.Met461Lys) c.1409T>A (p.Met470Lys) c.812T>A (p.Met271Lys) c.1517T>A (p.Met506Lys) c.1490T>A (p.Met497Lys) | |
| 21 | g.37505539T>C | CA409938663 | DYRK1A | c.1496T>C (p.Met499Thr) c.1469T>C (p.Met490Thr) c.1544T>C (p.Met515Thr) n.911T>C n.4214T>C c.1382T>C (p.Met461Thr) c.1409T>C (p.Met470Thr) c.812T>C (p.Met271Thr) c.1517T>C (p.Met506Thr) c.1490T>C (p.Met497Thr) | dbSNP gnomAD v4 |
| 21 | g.37505539T>G | CA409938664 | DYRK1A | c.1496T>G (p.Met499Arg) c.1469T>G (p.Met490Arg) c.1544T>G (p.Met515Arg) n.911T>G n.4214T>G c.1382T>G (p.Met461Arg) c.1409T>G (p.Met470Arg) c.812T>G (p.Met271Arg) c.1517T>G (p.Met506Arg) c.1490T>G (p.Met497Arg) | gnomAD v4 |
| 21 | g.37505539T= | CA2388503390 | DYRK1A | c.1496T= (p.Met499=) c.1469T= (p.Met490=) c.1544T= (p.Met515=) n.911T= n.4214T= c.1382T= (p.Met461=) c.1409T= (p.Met470=) c.812T= (p.Met271=) c.1517T= (p.Met506=) c.1490T= (p.Met497=) | |
| 21 | g.37505540G>A | CA409938665 | DYRK1A | c.1497G>A (p.Met499Ile) c.1470G>A (p.Met490Ile) c.1545G>A (p.Met515Ile) n.912G>A n.4215G>A c.1383G>A (p.Met461Ile) c.1410G>A (p.Met470Ile) c.813G>A (p.Met271Ile) c.1518G>A (p.Met506Ile) c.1491G>A (p.Met497Ile) | |
| 21 | g.37505540G>C | CA409938666 | DYRK1A | c.1497G>C (p.Met499Ile) c.1470G>C (p.Met490Ile) c.1545G>C (p.Met515Ile) n.912G>C n.4215G>C c.1383G>C (p.Met461Ile) c.1410G>C (p.Met470Ile) c.813G>C (p.Met271Ile) c.1518G>C (p.Met506Ile) c.1491G>C (p.Met497Ile) | |
| 21 | g.37505540G>T | CA409938667 | DYRK1A | c.1497G>T (p.Met499Ile) c.1470G>T (p.Met490Ile) c.1545G>T (p.Met515Ile) n.912G>T n.4215G>T c.1383G>T (p.Met461Ile) c.1410G>T (p.Met470Ile) c.813G>T (p.Met271Ile) c.1518G>T (p.Met506Ile) c.1491G>T (p.Met497Ile) | |
| 21 | g.37505541G>A | CA409938668 | DYRK1A | c.1498G>A (p.Glu500Lys) c.1471G>A (p.Glu491Lys) c.1546G>A (p.Glu516Lys) n.913G>A n.4216G>A c.1384G>A (p.Glu462Lys) c.1411G>A (p.Glu471Lys) c.814G>A (p.Glu272Lys) c.1519G>A (p.Glu507Lys) c.1492G>A (p.Glu498Lys) | |
| 21 | g.37505541G>C | CA409938669 | DYRK1A | c.1498G>C (p.Glu500Gln) c.1471G>C (p.Glu491Gln) c.1546G>C (p.Glu516Gln) n.913G>C n.4216G>C c.1384G>C (p.Glu462Gln) c.1411G>C (p.Glu471Gln) c.814G>C (p.Glu272Gln) c.1519G>C (p.Glu507Gln) c.1492G>C (p.Glu498Gln) | ClinVar |
| 21 | g.37505541G= | CA2388503391 | DYRK1A | c.1498G= (p.Glu500=) c.1471G= (p.Glu491=) c.1546G= (p.Glu516=) n.913G= n.4216G= c.1384G= (p.Glu462=) c.1411G= (p.Glu471=) c.814G= (p.Glu272=) c.1519G= (p.Glu507=) c.1492G= (p.Glu498=) | |
| 21 | g.37505541G>T | CA409938670 | DYRK1A | c.1498G>T (p.Glu500Ter) c.1471G>T (p.Glu491Ter) c.1546G>T (p.Glu516Ter) n.913G>T n.4216G>T c.1384G>T (p.Glu462Ter) c.1411G>T (p.Glu471Ter) c.814G>T (p.Glu272Ter) c.1519G>T (p.Glu507Ter) c.1492G>T (p.Glu498Ter) | dbSNP |
| 21 | g.37505542A>C | CA409938672 | DYRK1A | c.1499A>C (p.Glu500Ala) c.1472A>C (p.Glu491Ala) c.1547A>C (p.Glu516Ala) n.914A>C n.4217A>C c.1385A>C (p.Glu462Ala) c.1412A>C (p.Glu471Ala) c.815A>C (p.Glu272Ala) c.1520A>C (p.Glu507Ala) c.1493A>C (p.Glu498Ala) | |
| 21 | g.37505542A>G | CA409938673 | DYRK1A | c.1499A>G (p.Glu500Gly) c.1472A>G (p.Glu491Gly) c.1547A>G (p.Glu516Gly) n.914A>G n.4217A>G c.1385A>G (p.Glu462Gly) c.1412A>G (p.Glu471Gly) c.815A>G (p.Glu272Gly) c.1520A>G (p.Glu507Gly) c.1493A>G (p.Glu498Gly) | |
| 21 | g.37505542A>T | CA409938671 | DYRK1A | c.1499A>T (p.Glu500Val) c.1472A>T (p.Glu491Val) c.1547A>T (p.Glu516Val) n.914A>T n.4217A>T c.1385A>T (p.Glu462Val) c.1412A>T (p.Glu471Val) c.815A>T (p.Glu272Val) c.1520A>T (p.Glu507Val) c.1493A>T (p.Glu498Val) | COSMIC COSMIC |
| 21 | g.37505543G>A | CA512328020 | DYRK1A | c.1500G>A (p.Glu500=) c.1473G>A (p.Glu491=) c.1548G>A (p.Glu516=) n.915G>A n.4218G>A c.1386G>A (p.Glu462=) c.1413G>A (p.Glu471=) c.816G>A (p.Glu272=) c.1521G>A (p.Glu507=) c.1494G>A (p.Glu498=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37505543G>C | CA409938674 | DYRK1A | c.1500G>C (p.Glu500Asp) c.1473G>C (p.Glu491Asp) c.1548G>C (p.Glu516Asp) n.915G>C n.4218G>C c.1386G>C (p.Glu462Asp) c.1413G>C (p.Glu471Asp) c.816G>C (p.Glu272Asp) c.1521G>C (p.Glu507Asp) c.1494G>C (p.Glu498Asp) | |
| 21 | g.37505543G= | CA2388503392 | DYRK1A | c.1500G= (p.Glu500=) c.1473G= (p.Glu491=) c.1548G= (p.Glu516=) n.915G= n.4218G= c.1386G= (p.Glu462=) c.1413G= (p.Glu471=) c.816G= (p.Glu272=) c.1521G= (p.Glu507=) c.1494G= (p.Glu498=) | |
| 21 | g.37505543G>T | CA409938675 | DYRK1A | c.1500G>T (p.Glu500Asp) c.1473G>T (p.Glu491Asp) c.1548G>T (p.Glu516Asp) n.915G>T n.4218G>T c.1386G>T (p.Glu462Asp) c.1413G>T (p.Glu471Asp) c.816G>T (p.Glu272Asp) c.1521G>T (p.Glu507Asp) c.1494G>T (p.Glu498Asp) | |
| 21 | g.37505544C>A | CA409938676 | DYRK1A | c.1501C>A (p.Gln501Lys) c.1474C>A (p.Gln492Lys) c.1549C>A (p.Gln517Lys) n.916C>A n.4219C>A c.1387C>A (p.Gln463Lys) c.1414C>A (p.Gln472Lys) c.817C>A (p.Gln273Lys) c.1522C>A (p.Gln508Lys) c.1495C>A (p.Gln499Lys) | |
| 21 | g.37505544C= | CA2388503393 | DYRK1A | c.1501C= (p.Gln501=) c.1474C= (p.Gln492=) c.1549C= (p.Gln517=) n.916C= n.4219C= c.1387C= (p.Gln463=) c.1414C= (p.Gln472=) c.817C= (p.Gln273=) c.1522C= (p.Gln508=) c.1495C= (p.Gln499=) | |
| 21 | g.37505544C>G | CA409938677 | DYRK1A | c.1501C>G (p.Gln501Glu) c.1474C>G (p.Gln492Glu) c.1549C>G (p.Gln517Glu) n.916C>G n.4219C>G c.1387C>G (p.Gln463Glu) c.1414C>G (p.Gln472Glu) c.817C>G (p.Gln273Glu) c.1522C>G (p.Gln508Glu) c.1495C>G (p.Gln499Glu) | |
| 21 | g.37505544C>T | CA409938678 | DYRK1A | c.1501C>T (p.Gln501Ter) c.1474C>T (p.Gln492Ter) c.1549C>T (p.Gln517Ter) n.916C>T n.4219C>T c.1387C>T (p.Gln463Ter) c.1414C>T (p.Gln472Ter) c.817C>T (p.Gln273Ter) c.1522C>T (p.Gln508Ter) c.1495C>T (p.Gln499Ter) | dbSNP |
| 21 | g.37505550_37505555del | CA2654483260 | DYRK1A | c.1507_1512del (p.Gln503_Ser504del) c.1480_1485del (p.Gln494_Ser495del) n.922_927del n.4225_4230del c.1393_1398del (p.Gln465_Ser466del) c.1420_1425del (p.Gln474_Ser475del) c.823_828del (p.Gln275_Ser276del) c.1528_1533del (p.Gln510_Ser511del) c.1501_1506del (p.Gln501_Ser502del) | gnomAD v4 |
| 21 | g.37505545A>C | CA409938679 | DYRK1A | c.1502A>C (p.Gln501Pro) c.1475A>C (p.Gln492Pro) c.1550A>C (p.Gln517Pro) n.917A>C n.4220A>C c.1388A>C (p.Gln463Pro) c.1415A>C (p.Gln472Pro) c.818A>C (p.Gln273Pro) c.1523A>C (p.Gln508Pro) c.1496A>C (p.Gln499Pro) | |
| 21 | g.37505545A>G | CA409938680 | DYRK1A | c.1502A>G (p.Gln501Arg) c.1475A>G (p.Gln492Arg) c.1550A>G (p.Gln517Arg) n.917A>G n.4220A>G c.1388A>G (p.Gln463Arg) c.1415A>G (p.Gln472Arg) c.818A>G (p.Gln273Arg) c.1523A>G (p.Gln508Arg) c.1496A>G (p.Gln499Arg) | |
| 21 | g.37505545A>T | CA409938681 | DYRK1A | c.1502A>T (p.Gln501Leu) c.1475A>T (p.Gln492Leu) c.1550A>T (p.Gln517Leu) n.917A>T n.4220A>T c.1388A>T (p.Gln463Leu) c.1415A>T (p.Gln472Leu) c.818A>T (p.Gln273Leu) c.1523A>T (p.Gln508Leu) c.1496A>T (p.Gln499Leu) | |
| 21 | g.37505546del | CA2580098705 | DYRK1A | c.1503del (p.Gln501HisfsTer?) c.1476del (p.Gln492HisfsTer?) c.1551del (p.Gln517HisfsTer?) n.918del n.4221del c.1389del (p.Gln463HisfsTer?) c.1416del (p.Gln472HisfsTer?) c.819del (p.Gln273HisfsTer?) c.1524del (p.Gln508HisfsTer?) c.1497del (p.Gln499HisfsTer?) | ClinVar |
| 21 | g.37505546G>A | CA512328021 | DYRK1A | c.1503G>A (p.Gln501=) c.1476G>A (p.Gln492=) c.1551G>A (p.Gln517=) n.918G>A n.4221G>A c.1389G>A (p.Gln463=) c.1416G>A (p.Gln472=) c.819G>A (p.Gln273=) c.1524G>A (p.Gln508=) c.1497G>A (p.Gln499=) | |
| 21 | g.37505546G>C | CA409938682 | DYRK1A | c.1503G>C (p.Gln501His) c.1476G>C (p.Gln492His) c.1551G>C (p.Gln517His) n.918G>C n.4221G>C c.1389G>C (p.Gln463His) c.1416G>C (p.Gln472His) c.819G>C (p.Gln273His) c.1524G>C (p.Gln508His) c.1497G>C (p.Gln499His) | |
| 21 | g.37505546G>T | CA409938683 | DYRK1A | c.1503G>T (p.Gln501His) c.1476G>T (p.Gln492His) c.1551G>T (p.Gln517His) n.918G>T n.4221G>T c.1389G>T (p.Gln463His) c.1416G>T (p.Gln472His) c.819G>T (p.Gln273His) c.1524G>T (p.Gln508His) c.1497G>T (p.Gln499His) | gnomAD v4 |
| 21 | g.37505547T>A | CA409938684 | DYRK1A | c.1504T>A (p.Ser502Thr) c.1477T>A (p.Ser493Thr) c.1552T>A (p.Ser518Thr) n.919T>A n.4222T>A c.1390T>A (p.Ser464Thr) c.1417T>A (p.Ser473Thr) c.820T>A (p.Ser274Thr) c.1525T>A (p.Ser509Thr) c.1498T>A (p.Ser500Thr) | |
| 21 | g.37505547T>C | CA409938685 | DYRK1A | c.1504T>C (p.Ser502Pro) c.1477T>C (p.Ser493Pro) c.1552T>C (p.Ser518Pro) n.919T>C n.4222T>C c.1390T>C (p.Ser464Pro) c.1417T>C (p.Ser473Pro) c.820T>C (p.Ser274Pro) c.1525T>C (p.Ser509Pro) c.1498T>C (p.Ser500Pro) |