Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.50242468G>A | CA392377084 | HDC | c.1781C>T (p.Ala594Val) c.1682C>T (p.Ala561Val) n.1525C>T c.1544C>T (p.Ala515Val) c.1349C>T (p.Ala450Val) c.1886C>T (p.Ala629Val) c.1787C>T (p.Ala596Val) c.1658C>T (p.Ala553Val) c.1649C>T (p.Ala550Val) c.1454C>T (p.Ala485Val) | gnomAD v4 |
15 | g.50242468G>C | CA392377085 | HDC | c.1781C>G (p.Ala594Gly) c.1682C>G (p.Ala561Gly) n.1525C>G c.1544C>G (p.Ala515Gly) c.1349C>G (p.Ala450Gly) c.1886C>G (p.Ala629Gly) c.1787C>G (p.Ala596Gly) c.1658C>G (p.Ala553Gly) c.1649C>G (p.Ala550Gly) c.1454C>G (p.Ala485Gly) | |
15 | g.50242468G>T | CA392377086 | HDC | c.1781C>A (p.Ala594Asp) c.1682C>A (p.Ala561Asp) n.1525C>A c.1544C>A (p.Ala515Asp) c.1349C>A (p.Ala450Asp) c.1886C>A (p.Ala629Asp) c.1787C>A (p.Ala596Asp) c.1658C>A (p.Ala553Asp) c.1649C>A (p.Ala550Asp) c.1454C>A (p.Ala485Asp) | |
15 | g.50242469C>A | CA392377087 | HDC | c.1780G>T (p.Ala594Ser) c.1681G>T (p.Ala561Ser) n.1524G>T c.1543G>T (p.Ala515Ser) c.1348G>T (p.Ala450Ser) c.1885G>T (p.Ala629Ser) c.1786G>T (p.Ala596Ser) c.1657G>T (p.Ala553Ser) c.1648G>T (p.Ala550Ser) c.1453G>T (p.Ala485Ser) | |
15 | g.50242469C>G | CA392377089 | HDC | c.1780G>C (p.Ala594Pro) c.1681G>C (p.Ala561Pro) n.1524G>C c.1543G>C (p.Ala515Pro) c.1348G>C (p.Ala450Pro) c.1885G>C (p.Ala629Pro) c.1786G>C (p.Ala596Pro) c.1657G>C (p.Ala553Pro) c.1648G>C (p.Ala550Pro) c.1453G>C (p.Ala485Pro) | |
15 | g.50242469C>T | CA392377088 | HDC | c.1780G>A (p.Ala594Thr) c.1681G>A (p.Ala561Thr) n.1524G>A c.1543G>A (p.Ala515Thr) c.1348G>A (p.Ala450Thr) c.1885G>A (p.Ala629Thr) c.1786G>A (p.Ala596Thr) c.1657G>A (p.Ala553Thr) c.1648G>A (p.Ala550Thr) c.1453G>A (p.Ala485Thr) | COSMIC |
15 | g.50242470A>C | CA392377090 | HDC | c.1779T>G (p.Ser593Arg) c.1680T>G (p.Ser560Arg) n.1523T>G c.1542T>G (p.Ser514Arg) c.1347T>G (p.Ser449Arg) c.1884T>G (p.Ser628Arg) c.1785T>G (p.Ser595Arg) c.1656T>G (p.Ser552Arg) c.1647T>G (p.Ser549Arg) c.1452T>G (p.Ser484Arg) | gnomAD v4 |
15 | g.50242470A>G | CA490314107 | HDC | c.1779T>C (p.Ser593=) c.1680T>C (p.Ser560=) n.1523T>C c.1542T>C (p.Ser514=) c.1347T>C (p.Ser449=) c.1884T>C (p.Ser628=) c.1785T>C (p.Ser595=) c.1656T>C (p.Ser552=) c.1647T>C (p.Ser549=) c.1452T>C (p.Ser484=) | |
15 | g.50242470A>T | CA392377091 | HDC | c.1779T>A (p.Ser593Arg) c.1680T>A (p.Ser560Arg) n.1523T>A c.1542T>A (p.Ser514Arg) c.1347T>A (p.Ser449Arg) c.1884T>A (p.Ser628Arg) c.1785T>A (p.Ser595Arg) c.1656T>A (p.Ser552Arg) c.1647T>A (p.Ser549Arg) c.1452T>A (p.Ser484Arg) | |
15 | g.50242471C>A | CA392377092 | HDC | c.1778G>T (p.Ser593Ile) c.1679G>T (p.Ser560Ile) n.1522G>T c.1541G>T (p.Ser514Ile) c.1346G>T (p.Ser449Ile) c.1883G>T (p.Ser628Ile) c.1784G>T (p.Ser595Ile) c.1655G>T (p.Ser552Ile) c.1646G>T (p.Ser549Ile) c.1451G>T (p.Ser484Ile) | COSMIC |
15 | g.50242471C= | CA2176326607 | HDC | c.1778G= (p.Ser593=) c.1679G= (p.Ser560=) n.1522G= c.1541G= (p.Ser514=) c.1346G= (p.Ser449=) c.1883G= (p.Ser628=) c.1784G= (p.Ser595=) c.1655G= (p.Ser552=) c.1646G= (p.Ser549=) c.1451G= (p.Ser484=) | |
15 | g.50242471C>G | CA392377093 | HDC | c.1778G>C (p.Ser593Thr) c.1679G>C (p.Ser560Thr) n.1522G>C c.1541G>C (p.Ser514Thr) c.1346G>C (p.Ser449Thr) c.1883G>C (p.Ser628Thr) c.1784G>C (p.Ser595Thr) c.1655G>C (p.Ser552Thr) c.1646G>C (p.Ser549Thr) c.1451G>C (p.Ser484Thr) | |
15 | g.50242471C>T | CA7554495 | HDC | c.1778G>A (p.Ser593Asn) c.1679G>A (p.Ser560Asn) n.1522G>A c.1541G>A (p.Ser514Asn) c.1346G>A (p.Ser449Asn) c.1883G>A (p.Ser628Asn) c.1784G>A (p.Ser595Asn) c.1655G>A (p.Ser552Asn) c.1646G>A (p.Ser549Asn) c.1451G>A (p.Ser484Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242472T>A | CA392377094 | HDC | c.1777A>T (p.Ser593Cys) c.1678A>T (p.Ser560Cys) n.1521A>T c.1540A>T (p.Ser514Cys) c.1345A>T (p.Ser449Cys) c.1882A>T (p.Ser628Cys) c.1783A>T (p.Ser595Cys) c.1654A>T (p.Ser552Cys) c.1645A>T (p.Ser549Cys) c.1450A>T (p.Ser484Cys) | |
15 | g.50242472T>C | CA392377095 | HDC | c.1777A>G (p.Ser593Gly) c.1678A>G (p.Ser560Gly) n.1521A>G c.1540A>G (p.Ser514Gly) c.1345A>G (p.Ser449Gly) c.1882A>G (p.Ser628Gly) c.1783A>G (p.Ser595Gly) c.1654A>G (p.Ser552Gly) c.1645A>G (p.Ser549Gly) c.1450A>G (p.Ser484Gly) | |
15 | g.50242472T>G | CA392377096 | HDC | c.1777A>C (p.Ser593Arg) c.1678A>C (p.Ser560Arg) n.1521A>C c.1540A>C (p.Ser514Arg) c.1345A>C (p.Ser449Arg) c.1882A>C (p.Ser628Arg) c.1783A>C (p.Ser595Arg) c.1654A>C (p.Ser552Arg) c.1645A>C (p.Ser549Arg) c.1450A>C (p.Ser484Arg) | |
15 | g.50242473C>A | CA490314112 | HDC | c.1776G>T (p.Val592=) c.1677G>T (p.Val559=) n.1520G>T c.1539G>T (p.Val513=) c.1344G>T (p.Val448=) c.1881G>T (p.Val627=) c.1782G>T (p.Val594=) c.1653G>T (p.Val551=) c.1644G>T (p.Val548=) c.1449G>T (p.Val483=) | |
15 | g.50242473C>G | CA490314113 | HDC | c.1776G>C (p.Val592=) c.1677G>C (p.Val559=) n.1520G>C c.1539G>C (p.Val513=) c.1344G>C (p.Val448=) c.1881G>C (p.Val627=) c.1782G>C (p.Val594=) c.1653G>C (p.Val551=) c.1644G>C (p.Val548=) c.1449G>C (p.Val483=) | |
15 | g.50242473C>T | CA490314114 | HDC | c.1776G>A (p.Val592=) c.1677G>A (p.Val559=) n.1520G>A c.1539G>A (p.Val513=) c.1344G>A (p.Val448=) c.1881G>A (p.Val627=) c.1782G>A (p.Val594=) c.1653G>A (p.Val551=) c.1644G>A (p.Val548=) c.1449G>A (p.Val483=) | gnomAD v4 |
15 | g.50242474A= | CA2176326608 | HDC | c.1775T= (p.Val592=) c.1676T= (p.Val559=) n.1519T= c.1538T= (p.Val513=) c.1343T= (p.Val448=) c.1880T= (p.Val627=) c.1781T= (p.Val594=) c.1652T= (p.Val551=) c.1643T= (p.Val548=) c.1448T= (p.Val483=) | |
15 | g.50242474A>C | CA392377097 | HDC | c.1775T>G (p.Val592Gly) c.1676T>G (p.Val559Gly) n.1519T>G c.1538T>G (p.Val513Gly) c.1343T>G (p.Val448Gly) c.1880T>G (p.Val627Gly) c.1781T>G (p.Val594Gly) c.1652T>G (p.Val551Gly) c.1643T>G (p.Val548Gly) c.1448T>G (p.Val483Gly) | |
15 | g.50242474A>G | CA392377098 | HDC | c.1775T>C (p.Val592Ala) c.1676T>C (p.Val559Ala) n.1519T>C c.1538T>C (p.Val513Ala) c.1343T>C (p.Val448Ala) c.1880T>C (p.Val627Ala) c.1781T>C (p.Val594Ala) c.1652T>C (p.Val551Ala) c.1643T>C (p.Val548Ala) c.1448T>C (p.Val483Ala) | ClinVar dbSNP gnomAD v4 |
15 | g.50242474A>T | CA392377099 | HDC | c.1775T>A (p.Val592Glu) c.1676T>A (p.Val559Glu) n.1519T>A c.1538T>A (p.Val513Glu) c.1343T>A (p.Val448Glu) c.1880T>A (p.Val627Glu) c.1781T>A (p.Val594Glu) c.1652T>A (p.Val551Glu) c.1643T>A (p.Val548Glu) c.1448T>A (p.Val483Glu) | |
15 | g.50242475C>A | CA392377101 | HDC | c.1774G>T (p.Val592Leu) c.1675G>T (p.Val559Leu) n.1518G>T c.1537G>T (p.Val513Leu) c.1342G>T (p.Val448Leu) c.1879G>T (p.Val627Leu) c.1780G>T (p.Val594Leu) c.1651G>T (p.Val551Leu) c.1642G>T (p.Val548Leu) c.1447G>T (p.Val483Leu) | |
15 | g.50242475C= | CA2176326609 | HDC | c.1774G= (p.Val592=) c.1675G= (p.Val559=) n.1518G= c.1537G= (p.Val513=) c.1342G= (p.Val448=) c.1879G= (p.Val627=) c.1780G= (p.Val594=) c.1651G= (p.Val551=) c.1642G= (p.Val548=) c.1447G= (p.Val483=) | |
15 | g.50242475C>G | CA270413899 | HDC | c.1774G>C (p.Val592Leu) c.1675G>C (p.Val559Leu) n.1518G>C c.1537G>C (p.Val513Leu) c.1342G>C (p.Val448Leu) c.1879G>C (p.Val627Leu) c.1780G>C (p.Val594Leu) c.1651G>C (p.Val551Leu) c.1642G>C (p.Val548Leu) c.1447G>C (p.Val483Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242475C>T | CA392377100 | HDC | c.1774G>A (p.Val592Met) c.1675G>A (p.Val559Met) n.1518G>A c.1537G>A (p.Val513Met) c.1342G>A (p.Val448Met) c.1879G>A (p.Val627Met) c.1780G>A (p.Val594Met) c.1651G>A (p.Val551Met) c.1642G>A (p.Val548Met) c.1447G>A (p.Val483Met) | |
15 | g.50242476T>A | CA490314118 | HDC | c.1773A>T (p.Pro591=) c.1674A>T (p.Pro558=) n.1517A>T c.1536A>T (p.Pro512=) c.1341A>T (p.Pro447=) c.1878A>T (p.Pro626=) c.1779A>T (p.Pro593=) c.1650A>T (p.Pro550=) c.1641A>T (p.Pro547=) c.1446A>T (p.Pro482=) | |
15 | g.50242476T>C | CA490314119 | HDC | c.1773A>G (p.Pro591=) c.1674A>G (p.Pro558=) n.1517A>G c.1536A>G (p.Pro512=) c.1341A>G (p.Pro447=) c.1878A>G (p.Pro626=) c.1779A>G (p.Pro593=) c.1650A>G (p.Pro550=) c.1641A>G (p.Pro547=) c.1446A>G (p.Pro482=) | |
15 | g.50242476T>G | CA490314121 | HDC | c.1773A>C (p.Pro591=) c.1674A>C (p.Pro558=) n.1517A>C c.1536A>C (p.Pro512=) c.1341A>C (p.Pro447=) c.1878A>C (p.Pro626=) c.1779A>C (p.Pro593=) c.1650A>C (p.Pro550=) c.1641A>C (p.Pro547=) c.1446A>C (p.Pro482=) | |
15 | g.50242477G>A | CA392377102 | HDC | c.1772C>T (p.Pro591Leu) c.1673C>T (p.Pro558Leu) n.1516C>T c.1535C>T (p.Pro512Leu) c.1340C>T (p.Pro447Leu) c.1877C>T (p.Pro626Leu) c.1778C>T (p.Pro593Leu) c.1649C>T (p.Pro550Leu) c.1640C>T (p.Pro547Leu) c.1445C>T (p.Pro482Leu) | |
15 | g.50242477G>C | CA392377104 | HDC | c.1772C>G (p.Pro591Arg) c.1673C>G (p.Pro558Arg) n.1516C>G c.1535C>G (p.Pro512Arg) c.1340C>G (p.Pro447Arg) c.1877C>G (p.Pro626Arg) c.1778C>G (p.Pro593Arg) c.1649C>G (p.Pro550Arg) c.1640C>G (p.Pro547Arg) c.1445C>G (p.Pro482Arg) | |
15 | g.50242477G>T | CA392377103 | HDC | c.1772C>A (p.Pro591Gln) c.1673C>A (p.Pro558Gln) n.1516C>A c.1535C>A (p.Pro512Gln) c.1340C>A (p.Pro447Gln) c.1877C>A (p.Pro626Gln) c.1778C>A (p.Pro593Gln) c.1649C>A (p.Pro550Gln) c.1640C>A (p.Pro547Gln) c.1445C>A (p.Pro482Gln) | |
15 | g.50242478G>A | CA7554496 | HDC | c.1771C>T (p.Pro591Ser) c.1672C>T (p.Pro558Ser) n.1515C>T c.1534C>T (p.Pro512Ser) c.1339C>T (p.Pro447Ser) c.1876C>T (p.Pro626Ser) c.1777C>T (p.Pro593Ser) c.1648C>T (p.Pro550Ser) c.1639C>T (p.Pro547Ser) c.1444C>T (p.Pro482Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242478G>C | CA392377106 | HDC | c.1771C>G (p.Pro591Ala) c.1672C>G (p.Pro558Ala) n.1515C>G c.1534C>G (p.Pro512Ala) c.1339C>G (p.Pro447Ala) c.1876C>G (p.Pro626Ala) c.1777C>G (p.Pro593Ala) c.1648C>G (p.Pro550Ala) c.1639C>G (p.Pro547Ala) c.1444C>G (p.Pro482Ala) | |
15 | g.50242478G= | CA2176326610 | HDC | c.1771C= (p.Pro591=) c.1672C= (p.Pro558=) n.1515C= c.1534C= (p.Pro512=) c.1339C= (p.Pro447=) c.1876C= (p.Pro626=) c.1777C= (p.Pro593=) c.1648C= (p.Pro550=) c.1639C= (p.Pro547=) c.1444C= (p.Pro482=) | |
15 | g.50242478G>T | CA392377105 | HDC | c.1771C>A (p.Pro591Thr) c.1672C>A (p.Pro558Thr) n.1515C>A c.1534C>A (p.Pro512Thr) c.1339C>A (p.Pro447Thr) c.1876C>A (p.Pro626Thr) c.1777C>A (p.Pro593Thr) c.1648C>A (p.Pro550Thr) c.1639C>A (p.Pro547Thr) c.1444C>A (p.Pro482Thr) | |
15 | g.50242479C>A | CA490314127 | HDC | c.1770G>T (p.Val590=) c.1671G>T (p.Val557=) n.1514G>T c.1533G>T (p.Val511=) c.1338G>T (p.Val446=) c.1875G>T (p.Val625=) c.1776G>T (p.Val592=) c.1647G>T (p.Val549=) c.1638G>T (p.Val546=) c.1443G>T (p.Val481=) | |
15 | g.50242479C= | CA2176326611 | HDC | c.1770G= (p.Val590=) c.1671G= (p.Val557=) n.1514G= c.1533G= (p.Val511=) c.1338G= (p.Val446=) c.1875G= (p.Val625=) c.1776G= (p.Val592=) c.1647G= (p.Val549=) c.1638G= (p.Val546=) c.1443G= (p.Val481=) | |
15 | g.50242479C>G | CA490314124 | HDC | c.1770G>C (p.Val590=) c.1671G>C (p.Val557=) n.1514G>C c.1533G>C (p.Val511=) c.1338G>C (p.Val446=) c.1875G>C (p.Val625=) c.1776G>C (p.Val592=) c.1647G>C (p.Val549=) c.1638G>C (p.Val546=) c.1443G>C (p.Val481=) | |
15 | g.50242479C>T | CA7554497 | HDC | c.1770G>A (p.Val590=) c.1671G>A (p.Val557=) n.1514G>A c.1533G>A (p.Val511=) c.1338G>A (p.Val446=) c.1875G>A (p.Val625=) c.1776G>A (p.Val592=) c.1647G>A (p.Val549=) c.1638G>A (p.Val546=) c.1443G>A (p.Val481=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242480A>C | CA392377107 | HDC | c.1769T>G (p.Val590Gly) c.1670T>G (p.Val557Gly) n.1513T>G c.1532T>G (p.Val511Gly) c.1337T>G (p.Val446Gly) c.1874T>G (p.Val625Gly) c.1775T>G (p.Val592Gly) c.1646T>G (p.Val549Gly) c.1637T>G (p.Val546Gly) c.1442T>G (p.Val481Gly) | |
15 | g.50242480A>G | CA392377108 | HDC | c.1769T>C (p.Val590Ala) c.1670T>C (p.Val557Ala) n.1513T>C c.1532T>C (p.Val511Ala) c.1337T>C (p.Val446Ala) c.1874T>C (p.Val625Ala) c.1775T>C (p.Val592Ala) c.1646T>C (p.Val549Ala) c.1637T>C (p.Val546Ala) c.1442T>C (p.Val481Ala) | |
15 | g.50242480A>T | CA392377109 | HDC | c.1769T>A (p.Val590Glu) c.1670T>A (p.Val557Glu) n.1513T>A c.1532T>A (p.Val511Glu) c.1337T>A (p.Val446Glu) c.1874T>A (p.Val625Glu) c.1775T>A (p.Val592Glu) c.1646T>A (p.Val549Glu) c.1637T>A (p.Val546Glu) c.1442T>A (p.Val481Glu) | |
15 | g.50242481C>A | CA392377110 | HDC | c.1768G>T (p.Val590Leu) c.1669G>T (p.Val557Leu) n.1512G>T c.1531G>T (p.Val511Leu) c.1336G>T (p.Val446Leu) c.1873G>T (p.Val625Leu) c.1774G>T (p.Val592Leu) c.1645G>T (p.Val549Leu) c.1636G>T (p.Val546Leu) c.1441G>T (p.Val481Leu) | |
15 | g.50242481C>G | CA392377111 | HDC | c.1768G>C (p.Val590Leu) c.1669G>C (p.Val557Leu) n.1512G>C c.1531G>C (p.Val511Leu) c.1336G>C (p.Val446Leu) c.1873G>C (p.Val625Leu) c.1774G>C (p.Val592Leu) c.1645G>C (p.Val549Leu) c.1636G>C (p.Val546Leu) c.1441G>C (p.Val481Leu) | |
15 | g.50242481C>T | CA392377112 | HDC | c.1768G>A (p.Val590Met) c.1669G>A (p.Val557Met) n.1512G>A c.1531G>A (p.Val511Met) c.1336G>A (p.Val446Met) c.1873G>A (p.Val625Met) c.1774G>A (p.Val592Met) c.1645G>A (p.Val549Met) c.1636G>A (p.Val546Met) c.1441G>A (p.Val481Met) | |
15 | g.50242482A>C | CA392377113 | HDC | c.1767T>G (p.Ser589Arg) c.1668T>G (p.Ser556Arg) n.1511T>G c.1530T>G (p.Ser510Arg) c.1335T>G (p.Ser445Arg) c.1872T>G (p.Ser624Arg) c.1773T>G (p.Ser591Arg) c.1644T>G (p.Ser548Arg) c.1635T>G (p.Ser545Arg) c.1440T>G (p.Ser480Arg) | |
15 | g.50242482A>G | CA490314129 | HDC | c.1767T>C (p.Ser589=) c.1668T>C (p.Ser556=) n.1511T>C c.1530T>C (p.Ser510=) c.1335T>C (p.Ser445=) c.1872T>C (p.Ser624=) c.1773T>C (p.Ser591=) c.1644T>C (p.Ser548=) c.1635T>C (p.Ser545=) c.1440T>C (p.Ser480=) | |
15 | g.50242482A>T | CA392377114 | HDC | c.1767T>A (p.Ser589Arg) c.1668T>A (p.Ser556Arg) n.1511T>A c.1530T>A (p.Ser510Arg) c.1335T>A (p.Ser445Arg) c.1872T>A (p.Ser624Arg) c.1773T>A (p.Ser591Arg) c.1644T>A (p.Ser548Arg) c.1635T>A (p.Ser545Arg) c.1440T>A (p.Ser480Arg) | |
15 | g.50242483C>A | CA392377115 | HDC | c.1766G>T (p.Ser589Ile) c.1667G>T (p.Ser556Ile) n.1510G>T c.1529G>T (p.Ser510Ile) c.1334G>T (p.Ser445Ile) c.1871G>T (p.Ser624Ile) c.1772G>T (p.Ser591Ile) c.1643G>T (p.Ser548Ile) c.1634G>T (p.Ser545Ile) c.1439G>T (p.Ser480Ile) | |
15 | g.50242483C>G | CA392377116 | HDC | c.1766G>C (p.Ser589Thr) c.1667G>C (p.Ser556Thr) n.1510G>C c.1529G>C (p.Ser510Thr) c.1334G>C (p.Ser445Thr) c.1871G>C (p.Ser624Thr) c.1772G>C (p.Ser591Thr) c.1643G>C (p.Ser548Thr) c.1634G>C (p.Ser545Thr) c.1439G>C (p.Ser480Thr) | |
15 | g.50242483C>T | CA392377117 | HDC | c.1766G>A (p.Ser589Asn) c.1667G>A (p.Ser556Asn) n.1510G>A c.1529G>A (p.Ser510Asn) c.1334G>A (p.Ser445Asn) c.1871G>A (p.Ser624Asn) c.1772G>A (p.Ser591Asn) c.1643G>A (p.Ser548Asn) c.1634G>A (p.Ser545Asn) c.1439G>A (p.Ser480Asn) | gnomAD v4 |
15 | g.50242484T>A | CA392377119 | HDC | c.1765A>T (p.Ser589Cys) c.1666A>T (p.Ser556Cys) n.1509A>T c.1528A>T (p.Ser510Cys) c.1333A>T (p.Ser445Cys) c.1870A>T (p.Ser624Cys) c.1771A>T (p.Ser591Cys) c.1642A>T (p.Ser548Cys) c.1633A>T (p.Ser545Cys) c.1438A>T (p.Ser480Cys) | |
15 | g.50242484T>C | CA7554498 | HDC | c.1765A>G (p.Ser589Gly) c.1666A>G (p.Ser556Gly) n.1509A>G c.1528A>G (p.Ser510Gly) c.1333A>G (p.Ser445Gly) c.1870A>G (p.Ser624Gly) c.1771A>G (p.Ser591Gly) c.1642A>G (p.Ser548Gly) c.1633A>G (p.Ser545Gly) c.1438A>G (p.Ser480Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242484T>G | CA392377118 | HDC | c.1765A>C (p.Ser589Arg) c.1666A>C (p.Ser556Arg) n.1509A>C c.1528A>C (p.Ser510Arg) c.1333A>C (p.Ser445Arg) c.1870A>C (p.Ser624Arg) c.1771A>C (p.Ser591Arg) c.1642A>C (p.Ser548Arg) c.1633A>C (p.Ser545Arg) c.1438A>C (p.Ser480Arg) | |
15 | g.50242484T= | CA2176326612 | HDC | c.1765A= (p.Ser589=) c.1666A= (p.Ser556=) n.1509A= c.1528A= (p.Ser510=) c.1333A= (p.Ser445=) c.1870A= (p.Ser624=) c.1771A= (p.Ser591=) c.1642A= (p.Ser548=) c.1633A= (p.Ser545=) c.1438A= (p.Ser480=) | |
15 | g.50242485G>A | CA490314131 | HDC | c.1764C>T (p.Asn588=) c.1665C>T (p.Asn555=) n.1508C>T c.1527C>T (p.Asn509=) c.1332C>T (p.Asn444=) c.1869C>T (p.Asn623=) c.1770C>T (p.Asn590=) c.1641C>T (p.Asn547=) c.1632C>T (p.Asn544=) c.1437C>T (p.Asn479=) | |
15 | g.50242485G>C | CA392377120 | HDC | c.1764C>G (p.Asn588Lys) c.1665C>G (p.Asn555Lys) n.1508C>G c.1527C>G (p.Asn509Lys) c.1332C>G (p.Asn444Lys) c.1869C>G (p.Asn623Lys) c.1770C>G (p.Asn590Lys) c.1641C>G (p.Asn547Lys) c.1632C>G (p.Asn544Lys) c.1437C>G (p.Asn479Lys) | |
15 | g.50242485G>T | CA392377121 | HDC | c.1764C>A (p.Asn588Lys) c.1665C>A (p.Asn555Lys) n.1508C>A c.1527C>A (p.Asn509Lys) c.1332C>A (p.Asn444Lys) c.1869C>A (p.Asn623Lys) c.1770C>A (p.Asn590Lys) c.1641C>A (p.Asn547Lys) c.1632C>A (p.Asn544Lys) c.1437C>A (p.Asn479Lys) | |
15 | g.50242486T>A | CA392377122 | HDC | c.1763A>T (p.Asn588Ile) c.1664A>T (p.Asn555Ile) n.1507A>T c.1526A>T (p.Asn509Ile) c.1331A>T (p.Asn444Ile) c.1868A>T (p.Asn623Ile) c.1769A>T (p.Asn590Ile) c.1640A>T (p.Asn547Ile) c.1631A>T (p.Asn544Ile) c.1436A>T (p.Asn479Ile) | |
15 | g.50242486T>C | CA392377123 | HDC | c.1763A>G (p.Asn588Ser) c.1664A>G (p.Asn555Ser) n.1507A>G c.1526A>G (p.Asn509Ser) c.1331A>G (p.Asn444Ser) c.1868A>G (p.Asn623Ser) c.1769A>G (p.Asn590Ser) c.1640A>G (p.Asn547Ser) c.1631A>G (p.Asn544Ser) c.1436A>G (p.Asn479Ser) | COSMIC |
15 | g.50242486T>G | CA392377124 | HDC | c.1763A>C (p.Asn588Thr) c.1664A>C (p.Asn555Thr) n.1507A>C c.1526A>C (p.Asn509Thr) c.1331A>C (p.Asn444Thr) c.1868A>C (p.Asn623Thr) c.1769A>C (p.Asn590Thr) c.1640A>C (p.Asn547Thr) c.1631A>C (p.Asn544Thr) c.1436A>C (p.Asn479Thr) | |
15 | g.50242487T>A | CA392377125 | HDC | c.1762A>T (p.Asn588Tyr) c.1663A>T (p.Asn555Tyr) n.1506A>T c.1525A>T (p.Asn509Tyr) c.1330A>T (p.Asn444Tyr) c.1867A>T (p.Asn623Tyr) c.1768A>T (p.Asn590Tyr) c.1639A>T (p.Asn547Tyr) c.1630A>T (p.Asn544Tyr) c.1435A>T (p.Asn479Tyr) | |
15 | g.50242487T>C | CA392377126 | HDC | c.1762A>G (p.Asn588Asp) c.1663A>G (p.Asn555Asp) n.1506A>G c.1525A>G (p.Asn509Asp) c.1330A>G (p.Asn444Asp) c.1867A>G (p.Asn623Asp) c.1768A>G (p.Asn590Asp) c.1639A>G (p.Asn547Asp) c.1630A>G (p.Asn544Asp) c.1435A>G (p.Asn479Asp) | |
15 | g.50242487T>G | CA392377127 | HDC | c.1762A>C (p.Asn588His) c.1663A>C (p.Asn555His) n.1506A>C c.1525A>C (p.Asn509His) c.1330A>C (p.Asn444His) c.1867A>C (p.Asn623His) c.1768A>C (p.Asn590His) c.1639A>C (p.Asn547His) c.1630A>C (p.Asn544His) c.1435A>C (p.Asn479His) | |
15 | g.50242488G>A | CA490314137 | HDC | c.1761C>T (p.Cys587=) c.1662C>T (p.Cys554=) n.1505C>T c.1524C>T (p.Cys508=) c.1329C>T (p.Cys443=) c.1866C>T (p.Cys622=) c.1767C>T (p.Cys589=) c.1638C>T (p.Cys546=) c.1629C>T (p.Cys543=) c.1434C>T (p.Cys478=) | |
15 | g.50242488G>C | CA392377128 | HDC | c.1761C>G (p.Cys587Trp) c.1662C>G (p.Cys554Trp) n.1505C>G c.1524C>G (p.Cys508Trp) c.1329C>G (p.Cys443Trp) c.1866C>G (p.Cys622Trp) c.1767C>G (p.Cys589Trp) c.1638C>G (p.Cys546Trp) c.1629C>G (p.Cys543Trp) c.1434C>G (p.Cys478Trp) | |
15 | g.50242488G>T | CA392377129 | HDC | c.1761C>A (p.Cys587Ter) c.1662C>A (p.Cys554Ter) n.1505C>A c.1524C>A (p.Cys508Ter) c.1329C>A (p.Cys443Ter) c.1866C>A (p.Cys622Ter) c.1767C>A (p.Cys589Ter) c.1638C>A (p.Cys546Ter) c.1629C>A (p.Cys543Ter) c.1434C>A (p.Cys478Ter) | |
15 | g.50242489C>A | CA392377132 | HDC | c.1760G>T (p.Cys587Phe) c.1661G>T (p.Cys554Phe) n.1504G>T c.1523G>T (p.Cys508Phe) c.1328G>T (p.Cys443Phe) c.1865G>T (p.Cys622Phe) c.1766G>T (p.Cys589Phe) c.1637G>T (p.Cys546Phe) c.1628G>T (p.Cys543Phe) c.1433G>T (p.Cys478Phe) | COSMIC |
15 | g.50242489C>G | CA392377131 | HDC | c.1760G>C (p.Cys587Ser) c.1661G>C (p.Cys554Ser) n.1504G>C c.1523G>C (p.Cys508Ser) c.1328G>C (p.Cys443Ser) c.1865G>C (p.Cys622Ser) c.1766G>C (p.Cys589Ser) c.1637G>C (p.Cys546Ser) c.1628G>C (p.Cys543Ser) c.1433G>C (p.Cys478Ser) | |
15 | g.50242489C>T | CA392377130 | HDC | c.1760G>A (p.Cys587Tyr) c.1661G>A (p.Cys554Tyr) n.1504G>A c.1523G>A (p.Cys508Tyr) c.1328G>A (p.Cys443Tyr) c.1865G>A (p.Cys622Tyr) c.1766G>A (p.Cys589Tyr) c.1637G>A (p.Cys546Tyr) c.1628G>A (p.Cys543Tyr) c.1433G>A (p.Cys478Tyr) | |
15 | g.50242490A>C | CA392377133 | HDC | c.1759T>G (p.Cys587Gly) c.1660T>G (p.Cys554Gly) n.1503T>G c.1522T>G (p.Cys508Gly) c.1327T>G (p.Cys443Gly) c.1864T>G (p.Cys622Gly) c.1765T>G (p.Cys589Gly) c.1636T>G (p.Cys546Gly) c.1627T>G (p.Cys543Gly) c.1432T>G (p.Cys478Gly) | |
15 | g.50242490A>G | CA392377134 | HDC | c.1759T>C (p.Cys587Arg) c.1660T>C (p.Cys554Arg) n.1503T>C c.1522T>C (p.Cys508Arg) c.1327T>C (p.Cys443Arg) c.1864T>C (p.Cys622Arg) c.1765T>C (p.Cys589Arg) c.1636T>C (p.Cys546Arg) c.1627T>C (p.Cys543Arg) c.1432T>C (p.Cys478Arg) | |
15 | g.50242490A>T | CA392377135 | HDC | c.1759T>A (p.Cys587Ser) c.1660T>A (p.Cys554Ser) n.1503T>A c.1522T>A (p.Cys508Ser) c.1327T>A (p.Cys443Ser) c.1864T>A (p.Cys622Ser) c.1765T>A (p.Cys589Ser) c.1636T>A (p.Cys546Ser) c.1627T>A (p.Cys543Ser) c.1432T>A (p.Cys478Ser) | |
15 | g.50242491A>C | CA392377136 | HDC | c.1758T>G (p.Ser586Arg) c.1659T>G (p.Ser553Arg) n.1502T>G c.1521T>G (p.Ser507Arg) c.1326T>G (p.Ser442Arg) c.1863T>G (p.Ser621Arg) c.1764T>G (p.Ser588Arg) c.1635T>G (p.Ser545Arg) c.1626T>G (p.Ser542Arg) c.1431T>G (p.Ser477Arg) | |
15 | g.50242491A>G | CA490314142 | HDC | c.1758T>C (p.Ser586=) c.1659T>C (p.Ser553=) n.1502T>C c.1521T>C (p.Ser507=) c.1326T>C (p.Ser442=) c.1863T>C (p.Ser621=) c.1764T>C (p.Ser588=) c.1635T>C (p.Ser545=) c.1626T>C (p.Ser542=) c.1431T>C (p.Ser477=) | |
15 | g.50242491A>T | CA392377137 | HDC | c.1758T>A (p.Ser586Arg) c.1659T>A (p.Ser553Arg) n.1502T>A c.1521T>A (p.Ser507Arg) c.1326T>A (p.Ser442Arg) c.1863T>A (p.Ser621Arg) c.1764T>A (p.Ser588Arg) c.1635T>A (p.Ser545Arg) c.1626T>A (p.Ser542Arg) c.1431T>A (p.Ser477Arg) | |
15 | g.50242492C>A | CA392377138 | HDC | c.1757G>T (p.Ser586Ile) c.1658G>T (p.Ser553Ile) n.1501G>T c.1520G>T (p.Ser507Ile) c.1325G>T (p.Ser442Ile) c.1862G>T (p.Ser621Ile) c.1763G>T (p.Ser588Ile) c.1634G>T (p.Ser545Ile) c.1625G>T (p.Ser542Ile) c.1430G>T (p.Ser477Ile) | |
15 | g.50242492C>G | CA392377139 | HDC | c.1757G>C (p.Ser586Thr) c.1658G>C (p.Ser553Thr) n.1501G>C c.1520G>C (p.Ser507Thr) c.1325G>C (p.Ser442Thr) c.1862G>C (p.Ser621Thr) c.1763G>C (p.Ser588Thr) c.1634G>C (p.Ser545Thr) c.1625G>C (p.Ser542Thr) c.1430G>C (p.Ser477Thr) | |
15 | g.50242492C>T | CA392377140 | HDC | c.1757G>A (p.Ser586Asn) c.1658G>A (p.Ser553Asn) n.1501G>A c.1520G>A (p.Ser507Asn) c.1325G>A (p.Ser442Asn) c.1862G>A (p.Ser621Asn) c.1763G>A (p.Ser588Asn) c.1634G>A (p.Ser545Asn) c.1625G>A (p.Ser542Asn) c.1430G>A (p.Ser477Asn) | |
15 | g.50242493T>A | CA392377141 | HDC | c.1756A>T (p.Ser586Cys) c.1657A>T (p.Ser553Cys) n.1500A>T c.1519A>T (p.Ser507Cys) c.1324A>T (p.Ser442Cys) c.1861A>T (p.Ser621Cys) c.1762A>T (p.Ser588Cys) c.1633A>T (p.Ser545Cys) c.1624A>T (p.Ser542Cys) c.1429A>T (p.Ser477Cys) | |
15 | g.50242493T>C | CA392377142 | HDC | c.1756A>G (p.Ser586Gly) c.1657A>G (p.Ser553Gly) n.1500A>G c.1519A>G (p.Ser507Gly) c.1324A>G (p.Ser442Gly) c.1861A>G (p.Ser621Gly) c.1762A>G (p.Ser588Gly) c.1633A>G (p.Ser545Gly) c.1624A>G (p.Ser542Gly) c.1429A>G (p.Ser477Gly) | |
15 | g.50242493T>G | CA392377143 | HDC | c.1756A>C (p.Ser586Arg) c.1657A>C (p.Ser553Arg) n.1500A>C c.1519A>C (p.Ser507Arg) c.1324A>C (p.Ser442Arg) c.1861A>C (p.Ser621Arg) c.1762A>C (p.Ser588Arg) c.1633A>C (p.Ser545Arg) c.1624A>C (p.Ser542Arg) c.1429A>C (p.Ser477Arg) | gnomAD v4 |
15 | g.50242494G>A | CA490314146 | HDC | c.1755C>T (p.Leu585=) c.1656C>T (p.Leu552=) n.1499C>T c.1518C>T (p.Leu506=) c.1323C>T (p.Leu441=) c.1860C>T (p.Leu620=) c.1761C>T (p.Leu587=) c.1632C>T (p.Leu544=) c.1623C>T (p.Leu541=) c.1428C>T (p.Leu476=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242494G>C | CA490314147 | HDC | c.1755C>G (p.Leu585=) c.1656C>G (p.Leu552=) n.1499C>G c.1518C>G (p.Leu506=) c.1323C>G (p.Leu441=) c.1860C>G (p.Leu620=) c.1761C>G (p.Leu587=) c.1632C>G (p.Leu544=) c.1623C>G (p.Leu541=) c.1428C>G (p.Leu476=) | |
15 | g.50242494G= | CA2176326613 | HDC | c.1755C= (p.Leu585=) c.1656C= (p.Leu552=) n.1499C= c.1518C= (p.Leu506=) c.1323C= (p.Leu441=) c.1860C= (p.Leu620=) c.1761C= (p.Leu587=) c.1632C= (p.Leu544=) c.1623C= (p.Leu541=) c.1428C= (p.Leu476=) | |
15 | g.50242494G>T | CA490314149 | HDC | c.1755C>A (p.Leu585=) c.1656C>A (p.Leu552=) n.1499C>A c.1518C>A (p.Leu506=) c.1323C>A (p.Leu441=) c.1860C>A (p.Leu620=) c.1761C>A (p.Leu587=) c.1632C>A (p.Leu544=) c.1623C>A (p.Leu541=) c.1428C>A (p.Leu476=) | |
15 | g.50242495A>C | CA392377146 | HDC | c.1754T>G (p.Leu585Arg) c.1655T>G (p.Leu552Arg) n.1498T>G c.1517T>G (p.Leu506Arg) c.1322T>G (p.Leu441Arg) c.1859T>G (p.Leu620Arg) c.1760T>G (p.Leu587Arg) c.1631T>G (p.Leu544Arg) c.1622T>G (p.Leu541Arg) c.1427T>G (p.Leu476Arg) | |
15 | g.50242495A>G | CA392377145 | HDC | c.1754T>C (p.Leu585Pro) c.1655T>C (p.Leu552Pro) n.1498T>C c.1517T>C (p.Leu506Pro) c.1322T>C (p.Leu441Pro) c.1859T>C (p.Leu620Pro) c.1760T>C (p.Leu587Pro) c.1631T>C (p.Leu544Pro) c.1622T>C (p.Leu541Pro) c.1427T>C (p.Leu476Pro) | |
15 | g.50242495A>T | CA392377144 | HDC | c.1754T>A (p.Leu585His) c.1655T>A (p.Leu552His) n.1498T>A c.1517T>A (p.Leu506His) c.1322T>A (p.Leu441His) c.1859T>A (p.Leu620His) c.1760T>A (p.Leu587His) c.1631T>A (p.Leu544His) c.1622T>A (p.Leu541His) c.1427T>A (p.Leu476His) | |
15 | g.50242496G>A | CA392377147 | HDC | c.1753C>T (p.Leu585Phe) c.1654C>T (p.Leu552Phe) n.1497C>T c.1516C>T (p.Leu506Phe) c.1321C>T (p.Leu441Phe) c.1858C>T (p.Leu620Phe) c.1759C>T (p.Leu587Phe) c.1630C>T (p.Leu544Phe) c.1621C>T (p.Leu541Phe) c.1426C>T (p.Leu476Phe) | |
15 | g.50242496G>C | CA7554499 | HDC | c.1753C>G (p.Leu585Val) c.1654C>G (p.Leu552Val) n.1497C>G c.1516C>G (p.Leu506Val) c.1321C>G (p.Leu441Val) c.1858C>G (p.Leu620Val) c.1759C>G (p.Leu587Val) c.1630C>G (p.Leu544Val) c.1621C>G (p.Leu541Val) c.1426C>G (p.Leu476Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242496G= | CA2176326614 | HDC | c.1753C= (p.Leu585=) c.1654C= (p.Leu552=) n.1497C= c.1516C= (p.Leu506=) c.1321C= (p.Leu441=) c.1858C= (p.Leu620=) c.1759C= (p.Leu587=) c.1630C= (p.Leu544=) c.1621C= (p.Leu541=) c.1426C= (p.Leu476=) | |
15 | g.50242496G>T | CA392377148 | HDC | c.1753C>A (p.Leu585Ile) c.1654C>A (p.Leu552Ile) n.1497C>A c.1516C>A (p.Leu506Ile) c.1321C>A (p.Leu441Ile) c.1858C>A (p.Leu620Ile) c.1759C>A (p.Leu587Ile) c.1630C>A (p.Leu544Ile) c.1621C>A (p.Leu541Ile) c.1426C>A (p.Leu476Ile) | |
15 | g.50242497G>A | CA7554500 | HDC | c.1752C>T (p.Ser584=) c.1653C>T (p.Ser551=) n.1496C>T c.1515C>T (p.Ser505=) c.1320C>T (p.Ser440=) c.1857C>T (p.Ser619=) c.1758C>T (p.Ser586=) c.1629C>T (p.Ser543=) c.1620C>T (p.Ser540=) c.1425C>T (p.Ser475=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.50242497G>C | CA490314154 | HDC | c.1752C>G (p.Ser584=) c.1653C>G (p.Ser551=) n.1496C>G c.1515C>G (p.Ser505=) c.1320C>G (p.Ser440=) c.1857C>G (p.Ser619=) c.1758C>G (p.Ser586=) c.1629C>G (p.Ser543=) c.1620C>G (p.Ser540=) c.1425C>G (p.Ser475=) | |
15 | g.50242497G= | CA2176326615 | HDC | c.1752C= (p.Ser584=) c.1653C= (p.Ser551=) n.1496C= c.1515C= (p.Ser505=) c.1320C= (p.Ser440=) c.1857C= (p.Ser619=) c.1758C= (p.Ser586=) c.1629C= (p.Ser543=) c.1620C= (p.Ser540=) c.1425C= (p.Ser475=) | |
15 | g.50242497G>T | CA490314155 | HDC | c.1752C>A (p.Ser584=) c.1653C>A (p.Ser551=) n.1496C>A c.1515C>A (p.Ser505=) c.1320C>A (p.Ser440=) c.1857C>A (p.Ser619=) c.1758C>A (p.Ser586=) c.1629C>A (p.Ser543=) c.1620C>A (p.Ser540=) c.1425C>A (p.Ser475=) | |
15 | g.50242498G>A | CA392377149 | HDC | c.1751C>T (p.Ser584Phe) c.1652C>T (p.Ser551Phe) n.1495C>T c.1514C>T (p.Ser505Phe) c.1319C>T (p.Ser440Phe) c.1856C>T (p.Ser619Phe) c.1757C>T (p.Ser586Phe) c.1628C>T (p.Ser543Phe) c.1619C>T (p.Ser540Phe) c.1424C>T (p.Ser475Phe) | gnomAD v4 |
15 | g.50242498G>C | CA392377150 | HDC | c.1751C>G (p.Ser584Cys) c.1652C>G (p.Ser551Cys) n.1495C>G c.1514C>G (p.Ser505Cys) c.1319C>G (p.Ser440Cys) c.1856C>G (p.Ser619Cys) c.1757C>G (p.Ser586Cys) c.1628C>G (p.Ser543Cys) c.1619C>G (p.Ser540Cys) c.1424C>G (p.Ser475Cys) | |
15 | g.50242498G>T | CA392377151 | HDC | c.1751C>A (p.Ser584Tyr) c.1652C>A (p.Ser551Tyr) n.1495C>A c.1514C>A (p.Ser505Tyr) c.1319C>A (p.Ser440Tyr) c.1856C>A (p.Ser619Tyr) c.1757C>A (p.Ser586Tyr) c.1628C>A (p.Ser543Tyr) c.1619C>A (p.Ser540Tyr) c.1424C>A (p.Ser475Tyr) | |
15 | g.50242499A>C | CA392377152 | HDC | c.1750T>G (p.Ser584Ala) c.1651T>G (p.Ser551Ala) n.1494T>G c.1513T>G (p.Ser505Ala) c.1318T>G (p.Ser440Ala) c.1855T>G (p.Ser619Ala) c.1756T>G (p.Ser586Ala) c.1627T>G (p.Ser543Ala) c.1618T>G (p.Ser540Ala) c.1423T>G (p.Ser475Ala) | |
15 | g.50242499A>G | CA392377153 | HDC | c.1750T>C (p.Ser584Pro) c.1651T>C (p.Ser551Pro) n.1494T>C c.1513T>C (p.Ser505Pro) c.1318T>C (p.Ser440Pro) c.1855T>C (p.Ser619Pro) c.1756T>C (p.Ser586Pro) c.1627T>C (p.Ser543Pro) c.1618T>C (p.Ser540Pro) c.1423T>C (p.Ser475Pro) | |
15 | g.50242499A>T | CA392377154 | HDC | c.1750T>A (p.Ser584Thr) c.1651T>A (p.Ser551Thr) n.1494T>A c.1513T>A (p.Ser505Thr) c.1318T>A (p.Ser440Thr) c.1855T>A (p.Ser619Thr) c.1756T>A (p.Ser586Thr) c.1627T>A (p.Ser543Thr) c.1618T>A (p.Ser540Thr) c.1423T>A (p.Ser475Thr) | |
15 | g.50242500G>A | CA490314162 | HDC | c.1749C>T (p.Arg583=) c.1650C>T (p.Arg550=) n.1493C>T c.1512C>T (p.Arg504=) c.1317C>T (p.Arg439=) c.1854C>T (p.Arg618=) c.1755C>T (p.Arg585=) c.1626C>T (p.Arg542=) c.1617C>T (p.Arg539=) c.1422C>T (p.Arg474=) | |
15 | g.50242500G>C | CA490314160 | HDC | c.1749C>G (p.Arg583=) c.1650C>G (p.Arg550=) n.1493C>G c.1512C>G (p.Arg504=) c.1317C>G (p.Arg439=) c.1854C>G (p.Arg618=) c.1755C>G (p.Arg585=) c.1626C>G (p.Arg542=) c.1617C>G (p.Arg539=) c.1422C>G (p.Arg474=) | |
15 | g.50242500G>T | CA490314161 | HDC | c.1749C>A (p.Arg583=) c.1650C>A (p.Arg550=) n.1493C>A c.1512C>A (p.Arg504=) c.1317C>A (p.Arg439=) c.1854C>A (p.Arg618=) c.1755C>A (p.Arg585=) c.1626C>A (p.Arg542=) c.1617C>A (p.Arg539=) c.1422C>A (p.Arg474=) | |
15 | g.50242501C>A | CA7554502 | HDC | c.1748G>T (p.Arg583Leu) c.1649G>T (p.Arg550Leu) n.1492G>T c.1511G>T (p.Arg504Leu) c.1316G>T (p.Arg439Leu) c.1853G>T (p.Arg618Leu) c.1754G>T (p.Arg585Leu) c.1625G>T (p.Arg542Leu) c.1616G>T (p.Arg539Leu) c.1421G>T (p.Arg474Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.50242501C= | CA2176326616 | HDC | c.1748G= (p.Arg583=) c.1649G= (p.Arg550=) n.1492G= c.1511G= (p.Arg504=) c.1316G= (p.Arg439=) c.1853G= (p.Arg618=) c.1754G= (p.Arg585=) c.1625G= (p.Arg542=) c.1616G= (p.Arg539=) c.1421G= (p.Arg474=) | |
15 | g.50242501C>G | CA392377155 | HDC | c.1748G>C (p.Arg583Pro) c.1649G>C (p.Arg550Pro) n.1492G>C c.1511G>C (p.Arg504Pro) c.1316G>C (p.Arg439Pro) c.1853G>C (p.Arg618Pro) c.1754G>C (p.Arg585Pro) c.1625G>C (p.Arg542Pro) c.1616G>C (p.Arg539Pro) c.1421G>C (p.Arg474Pro) | |
15 | g.50242501C>T | CA7554501 | HDC | c.1748G>A (p.Arg583His) c.1649G>A (p.Arg550His) n.1492G>A c.1511G>A (p.Arg504His) c.1316G>A (p.Arg439His) c.1853G>A (p.Arg618His) c.1754G>A (p.Arg585His) c.1625G>A (p.Arg542His) c.1616G>A (p.Arg539His) c.1421G>A (p.Arg474His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.50242502G>A | CA270413950 | HDC | c.1747C>T (p.Arg583Cys) c.1648C>T (p.Arg550Cys) n.1491C>T c.1510C>T (p.Arg504Cys) c.1315C>T (p.Arg439Cys) c.1852C>T (p.Arg618Cys) c.1753C>T (p.Arg585Cys) c.1624C>T (p.Arg542Cys) c.1615C>T (p.Arg539Cys) c.1420C>T (p.Arg474Cys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242502G>C | CA392377157 | HDC | c.1747C>G (p.Arg583Gly) c.1648C>G (p.Arg550Gly) n.1491C>G c.1510C>G (p.Arg504Gly) c.1315C>G (p.Arg439Gly) c.1852C>G (p.Arg618Gly) c.1753C>G (p.Arg585Gly) c.1624C>G (p.Arg542Gly) c.1615C>G (p.Arg539Gly) c.1420C>G (p.Arg474Gly) | gnomAD v4 |
15 | g.50242502G= | CA2176326617 | HDC | c.1747C= (p.Arg583=) c.1648C= (p.Arg550=) n.1491C= c.1510C= (p.Arg504=) c.1315C= (p.Arg439=) c.1852C= (p.Arg618=) c.1753C= (p.Arg585=) c.1624C= (p.Arg542=) c.1615C= (p.Arg539=) c.1420C= (p.Arg474=) | |
15 | g.50242502G>T | CA392377156 | HDC | c.1747C>A (p.Arg583Ser) c.1648C>A (p.Arg550Ser) n.1491C>A c.1510C>A (p.Arg504Ser) c.1315C>A (p.Arg439Ser) c.1852C>A (p.Arg618Ser) c.1753C>A (p.Arg585Ser) c.1624C>A (p.Arg542Ser) c.1615C>A (p.Arg539Ser) c.1420C>A (p.Arg474Ser) | dbSNP |
15 | g.50242503C>A | CA490314165 | HDC | c.1746G>T (p.Val582=) c.1647G>T (p.Val549=) n.1490G>T c.1509G>T (p.Val503=) c.1314G>T (p.Val438=) c.1851G>T (p.Val617=) c.1752G>T (p.Val584=) c.1623G>T (p.Val541=) c.1614G>T (p.Val538=) c.1419G>T (p.Val473=) | |
15 | g.50242503C>G | CA490314166 | HDC | c.1746G>C (p.Val582=) c.1647G>C (p.Val549=) n.1490G>C c.1509G>C (p.Val503=) c.1314G>C (p.Val438=) c.1851G>C (p.Val617=) c.1752G>C (p.Val584=) c.1623G>C (p.Val541=) c.1614G>C (p.Val538=) c.1419G>C (p.Val473=) | |
15 | g.50242503C>T | CA490314167 | HDC | c.1746G>A (p.Val582=) c.1647G>A (p.Val549=) n.1490G>A c.1509G>A (p.Val503=) c.1314G>A (p.Val438=) c.1851G>A (p.Val617=) c.1752G>A (p.Val584=) c.1623G>A (p.Val541=) c.1614G>A (p.Val538=) c.1419G>A (p.Val473=) | |
15 | g.50242504A>C | CA392377159 | HDC | c.1745T>G (p.Val582Gly) c.1646T>G (p.Val549Gly) n.1489T>G c.1508T>G (p.Val503Gly) c.1313T>G (p.Val438Gly) c.1850T>G (p.Val617Gly) c.1751T>G (p.Val584Gly) c.1622T>G (p.Val541Gly) c.1613T>G (p.Val538Gly) c.1418T>G (p.Val473Gly) | |
15 | g.50242504A>G | CA392377158 | HDC | c.1745T>C (p.Val582Ala) c.1646T>C (p.Val549Ala) n.1489T>C c.1508T>C (p.Val503Ala) c.1313T>C (p.Val438Ala) c.1850T>C (p.Val617Ala) c.1751T>C (p.Val584Ala) c.1622T>C (p.Val541Ala) c.1613T>C (p.Val538Ala) c.1418T>C (p.Val473Ala) | gnomAD v4 |
15 | g.50242504A>T | CA392377160 | HDC | c.1745T>A (p.Val582Glu) c.1646T>A (p.Val549Glu) n.1489T>A c.1508T>A (p.Val503Glu) c.1313T>A (p.Val438Glu) c.1850T>A (p.Val617Glu) c.1751T>A (p.Val584Glu) c.1622T>A (p.Val541Glu) c.1613T>A (p.Val538Glu) c.1418T>A (p.Val473Glu) | |
15 | g.50242505C>A | CA392377161 | HDC | c.1744G>T (p.Val582Leu) c.1645G>T (p.Val549Leu) n.1488G>T c.1507G>T (p.Val503Leu) c.1312G>T (p.Val438Leu) c.1849G>T (p.Val617Leu) c.1750G>T (p.Val584Leu) c.1621G>T (p.Val541Leu) c.1612G>T (p.Val538Leu) c.1417G>T (p.Val473Leu) | dbSNP |
15 | g.50242505C= | CA2176326618 | HDC | c.1744G= (p.Val582=) c.1645G= (p.Val549=) n.1488G= c.1507G= (p.Val503=) c.1312G= (p.Val438=) c.1849G= (p.Val617=) c.1750G= (p.Val584=) c.1621G= (p.Val541=) c.1612G= (p.Val538=) c.1417G= (p.Val473=) | |
15 | g.50242505C>G | CA392377162 | HDC | c.1744G>C (p.Val582Leu) c.1645G>C (p.Val549Leu) n.1488G>C c.1507G>C (p.Val503Leu) c.1312G>C (p.Val438Leu) c.1849G>C (p.Val617Leu) c.1750G>C (p.Val584Leu) c.1621G>C (p.Val541Leu) c.1612G>C (p.Val538Leu) c.1417G>C (p.Val473Leu) | |
15 | g.50242505C>T | CA392377163 | HDC | c.1744G>A (p.Val582Met) c.1645G>A (p.Val549Met) n.1488G>A c.1507G>A (p.Val503Met) c.1312G>A (p.Val438Met) c.1849G>A (p.Val617Met) c.1750G>A (p.Val584Met) c.1621G>A (p.Val541Met) c.1612G>A (p.Val538Met) c.1417G>A (p.Val473Met) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242506C>A | CA490314168 | HDC | c.1743G>T (p.Thr581=) c.1644G>T (p.Thr548=) n.1487G>T c.1506G>T (p.Thr502=) c.1311G>T (p.Thr437=) c.1848G>T (p.Thr616=) c.1749G>T (p.Thr583=) c.1620G>T (p.Thr540=) c.1611G>T (p.Thr537=) c.1416G>T (p.Thr472=) | |
15 | g.50242506C= | CA2176326619 | HDC | c.1743G= (p.Thr581=) c.1644G= (p.Thr548=) n.1487G= c.1506G= (p.Thr502=) c.1311G= (p.Thr437=) c.1848G= (p.Thr616=) c.1749G= (p.Thr583=) c.1620G= (p.Thr540=) c.1611G= (p.Thr537=) c.1416G= (p.Thr472=) | |
15 | g.50242506C>G | CA490314169 | HDC | c.1743G>C (p.Thr581=) c.1644G>C (p.Thr548=) n.1487G>C c.1506G>C (p.Thr502=) c.1311G>C (p.Thr437=) c.1848G>C (p.Thr616=) c.1749G>C (p.Thr583=) c.1620G>C (p.Thr540=) c.1611G>C (p.Thr537=) c.1416G>C (p.Thr472=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242506C>T | CA7554503 | HDC | c.1743G>A (p.Thr581=) c.1644G>A (p.Thr548=) n.1487G>A c.1506G>A (p.Thr502=) c.1311G>A (p.Thr437=) c.1848G>A (p.Thr616=) c.1749G>A (p.Thr583=) c.1620G>A (p.Thr540=) c.1611G>A (p.Thr537=) c.1416G>A (p.Thr472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242507G>A | CA7554504 | HDC | c.1742C>T (p.Thr581Met) c.1643C>T (p.Thr548Met) n.1486C>T c.1505C>T (p.Thr502Met) c.1310C>T (p.Thr437Met) c.1847C>T (p.Thr616Met) c.1748C>T (p.Thr583Met) c.1619C>T (p.Thr540Met) c.1610C>T (p.Thr537Met) c.1415C>T (p.Thr472Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242507G>C | CA392377164 | HDC | c.1742C>G (p.Thr581Arg) c.1643C>G (p.Thr548Arg) n.1486C>G c.1505C>G (p.Thr502Arg) c.1310C>G (p.Thr437Arg) c.1847C>G (p.Thr616Arg) c.1748C>G (p.Thr583Arg) c.1619C>G (p.Thr540Arg) c.1610C>G (p.Thr537Arg) c.1415C>G (p.Thr472Arg) | |
15 | g.50242507G= | CA2176326620 | HDC | c.1742C= (p.Thr581=) c.1643C= (p.Thr548=) n.1486C= c.1505C= (p.Thr502=) c.1310C= (p.Thr437=) c.1847C= (p.Thr616=) c.1748C= (p.Thr583=) c.1619C= (p.Thr540=) c.1610C= (p.Thr537=) c.1415C= (p.Thr472=) | |
15 | g.50242507G>T | CA7554506 | HDC | c.1742C>A (p.Thr581Lys) c.1643C>A (p.Thr548Lys) n.1486C>A c.1505C>A (p.Thr502Lys) c.1310C>A (p.Thr437Lys) c.1847C>A (p.Thr616Lys) c.1748C>A (p.Thr583Lys) c.1619C>A (p.Thr540Lys) c.1610C>A (p.Thr537Lys) c.1415C>A (p.Thr472Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242507_50242510delinsGTCT | CA2176326621 | HDC | c.1739_1742delinsAGAC (p.Lys580=) c.1640_1643delinsAGAC (p.Lys547=) n.1483_1486delinsAGAC c.1502_1505delinsAGAC (p.Lys501=) c.1307_1310delinsAGAC (p.Lys436=) c.1844_1847delinsAGAC (p.Lys615=) c.1745_1748delinsAGAC (p.Lys582=) c.1616_1619delinsAGAC (p.Lys539=) c.1607_1610delinsAGAC (p.Lys536=) c.1412_1415delinsAGAC (p.Lys471=) | |
15 | g.50242508T>A | CA392377165 | HDC | c.1741A>T (p.Thr581Ser) c.1642A>T (p.Thr548Ser) n.1485A>T c.1504A>T (p.Thr502Ser) c.1309A>T (p.Thr437Ser) c.1846A>T (p.Thr616Ser) c.1747A>T (p.Thr583Ser) c.1618A>T (p.Thr540Ser) c.1609A>T (p.Thr537Ser) c.1414A>T (p.Thr472Ser) | |
15 | g.50242508T>C | CA392377166 | HDC | c.1741A>G (p.Thr581Ala) c.1642A>G (p.Thr548Ala) n.1485A>G c.1504A>G (p.Thr502Ala) c.1309A>G (p.Thr437Ala) c.1846A>G (p.Thr616Ala) c.1747A>G (p.Thr583Ala) c.1618A>G (p.Thr540Ala) c.1609A>G (p.Thr537Ala) c.1414A>G (p.Thr472Ala) | |
15 | g.50242508T>G | CA392377167 | HDC | c.1741A>C (p.Thr581Pro) c.1642A>C (p.Thr548Pro) n.1485A>C c.1504A>C (p.Thr502Pro) c.1309A>C (p.Thr437Pro) c.1846A>C (p.Thr616Pro) c.1747A>C (p.Thr583Pro) c.1618A>C (p.Thr540Pro) c.1609A>C (p.Thr537Pro) c.1414A>C (p.Thr472Pro) | |
15 | g.50242515_50242517dup | CA2176326622 | HDC | c.1739_1741dup (p.Lys580_Thr581insLys) c.1640_1642dup (p.Lys547_Thr548insLys) n.1483_1485dup c.1502_1504dup (p.Lys501_Thr502insLys) c.1307_1309dup (p.Lys436_Thr437insLys) c.1844_1846dup (p.Lys615_Thr616insLys) c.1745_1747dup (p.Lys582_Thr583insLys) c.1616_1618dup (p.Lys539_Thr540insLys) c.1607_1609dup (p.Lys536_Thr537insLys) c.1412_1414dup (p.Lys471_Thr472insLys) | dbSNP gnomAD v4 |
15 | g.50242515_50242517del | CA7554505 | HDC | c.1739_1741del (p.Lys580del) c.1640_1642del (p.Lys547del) n.1483_1485del c.1502_1504del (p.Lys501del) c.1307_1309del (p.Lys436del) c.1844_1846del (p.Lys615del) c.1745_1747del (p.Lys582del) c.1616_1618del (p.Lys539del) c.1607_1609del (p.Lys536del) c.1412_1414del (p.Lys471del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242509C>A | CA392377168 | HDC | c.1740G>T (p.Lys580Asn) c.1641G>T (p.Lys547Asn) n.1484G>T c.1503G>T (p.Lys501Asn) c.1308G>T (p.Lys436Asn) c.1845G>T (p.Lys615Asn) c.1746G>T (p.Lys582Asn) c.1617G>T (p.Lys539Asn) c.1608G>T (p.Lys536Asn) c.1413G>T (p.Lys471Asn) | |
15 | g.50242509C= | CA2176326623 | HDC | c.1740G= (p.Lys580=) c.1641G= (p.Lys547=) n.1484G= c.1503G= (p.Lys501=) c.1308G= (p.Lys436=) c.1845G= (p.Lys615=) c.1746G= (p.Lys582=) c.1617G= (p.Lys539=) c.1608G= (p.Lys536=) c.1413G= (p.Lys471=) | |
15 | g.50242509C>G | CA392377169 | HDC | c.1740G>C (p.Lys580Asn) c.1641G>C (p.Lys547Asn) n.1484G>C c.1503G>C (p.Lys501Asn) c.1308G>C (p.Lys436Asn) c.1845G>C (p.Lys615Asn) c.1746G>C (p.Lys582Asn) c.1617G>C (p.Lys539Asn) c.1608G>C (p.Lys536Asn) c.1413G>C (p.Lys471Asn) | |
15 | g.50242509C>T | CA490314177 | HDC | c.1740G>A (p.Lys580=) c.1641G>A (p.Lys547=) n.1484G>A c.1503G>A (p.Lys501=) c.1308G>A (p.Lys436=) c.1845G>A (p.Lys615=) c.1746G>A (p.Lys582=) c.1617G>A (p.Lys539=) c.1608G>A (p.Lys536=) c.1413G>A (p.Lys471=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242510T>A | CA392377170 | HDC | c.1739A>T (p.Lys580Met) c.1640A>T (p.Lys547Met) n.1483A>T c.1502A>T (p.Lys501Met) c.1307A>T (p.Lys436Met) c.1844A>T (p.Lys615Met) c.1745A>T (p.Lys582Met) c.1616A>T (p.Lys539Met) c.1607A>T (p.Lys536Met) c.1412A>T (p.Lys471Met) | |
15 | g.50242510T>C | CA392377171 | HDC | c.1739A>G (p.Lys580Arg) c.1640A>G (p.Lys547Arg) n.1483A>G c.1502A>G (p.Lys501Arg) c.1307A>G (p.Lys436Arg) c.1844A>G (p.Lys615Arg) c.1745A>G (p.Lys582Arg) c.1616A>G (p.Lys539Arg) c.1607A>G (p.Lys536Arg) c.1412A>G (p.Lys471Arg) | |
15 | g.50242510T>G | CA7554507 | HDC | c.1739A>C (p.Lys580Thr) c.1640A>C (p.Lys547Thr) n.1483A>C c.1502A>C (p.Lys501Thr) c.1307A>C (p.Lys436Thr) c.1844A>C (p.Lys615Thr) c.1745A>C (p.Lys582Thr) c.1616A>C (p.Lys539Thr) c.1607A>C (p.Lys536Thr) c.1412A>C (p.Lys471Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242510T= | CA2176326624 | HDC | c.1739A= (p.Lys580=) c.1640A= (p.Lys547=) n.1483A= c.1502A= (p.Lys501=) c.1307A= (p.Lys436=) c.1844A= (p.Lys615=) c.1745A= (p.Lys582=) c.1616A= (p.Lys539=) c.1607A= (p.Lys536=) c.1412A= (p.Lys471=) | |
15 | g.50242511del | CA2628396369 | HDC | c.1739del (p.Lys580ArgfsTer13) c.1640del (p.Lys547ArgfsTer13) n.1483del c.1502del (p.Lys501ArgfsTer13) c.1307del (p.Lys436ArgfsTer13) c.1844del (p.Lys615ArgfsTer13) c.1745del (p.Lys582ArgfsTer13) c.1616del (p.Lys539ArgfsTer13) c.1607del (p.Lys536ArgfsTer13) c.1412del (p.Lys471ArgfsTer13) | gnomAD v4 |
15 | g.50242511T>A | CA392377172 | HDC | c.1738A>T (p.Lys580Ter) c.1639A>T (p.Lys547Ter) n.1482A>T c.1501A>T (p.Lys501Ter) c.1306A>T (p.Lys436Ter) c.1843A>T (p.Lys615Ter) c.1744A>T (p.Lys582Ter) c.1615A>T (p.Lys539Ter) c.1606A>T (p.Lys536Ter) c.1411A>T (p.Lys471Ter) | |
15 | g.50242511T>C | CA392377173 | HDC | c.1738A>G (p.Lys580Glu) c.1639A>G (p.Lys547Glu) n.1482A>G c.1501A>G (p.Lys501Glu) c.1306A>G (p.Lys436Glu) c.1843A>G (p.Lys615Glu) c.1744A>G (p.Lys582Glu) c.1615A>G (p.Lys539Glu) c.1606A>G (p.Lys536Glu) c.1411A>G (p.Lys471Glu) | gnomAD v4 |
15 | g.50242511T>G | CA392377174 | HDC | c.1738A>C (p.Lys580Gln) c.1639A>C (p.Lys547Gln) n.1482A>C c.1501A>C (p.Lys501Gln) c.1306A>C (p.Lys436Gln) c.1843A>C (p.Lys615Gln) c.1744A>C (p.Lys582Gln) c.1615A>C (p.Lys539Gln) c.1606A>C (p.Lys536Gln) c.1411A>C (p.Lys471Gln) | |
15 | g.50242512C>A | CA392377175 | HDC | c.1737G>T (p.Lys579Asn) c.1638G>T (p.Lys546Asn) n.1481G>T c.1500G>T (p.Lys500Asn) c.1305G>T (p.Lys435Asn) c.1842G>T (p.Lys614Asn) c.1743G>T (p.Lys581Asn) c.1614G>T (p.Lys538Asn) c.1605G>T (p.Lys535Asn) c.1410G>T (p.Lys470Asn) | |
15 | g.50242512C>G | CA392377176 | HDC | c.1737G>C (p.Lys579Asn) c.1638G>C (p.Lys546Asn) n.1481G>C c.1500G>C (p.Lys500Asn) c.1305G>C (p.Lys435Asn) c.1842G>C (p.Lys614Asn) c.1743G>C (p.Lys581Asn) c.1614G>C (p.Lys538Asn) c.1605G>C (p.Lys535Asn) c.1410G>C (p.Lys470Asn) | |
15 | g.50242512C>T | CA490314179 | HDC | c.1737G>A (p.Lys579=) c.1638G>A (p.Lys546=) n.1481G>A c.1500G>A (p.Lys500=) c.1305G>A (p.Lys435=) c.1842G>A (p.Lys614=) c.1743G>A (p.Lys581=) c.1614G>A (p.Lys538=) c.1605G>A (p.Lys535=) c.1410G>A (p.Lys470=) | |
15 | g.50242513T>A | CA392377177 | HDC | c.1736A>T (p.Lys579Met) c.1637A>T (p.Lys546Met) n.1480A>T c.1499A>T (p.Lys500Met) c.1304A>T (p.Lys435Met) c.1841A>T (p.Lys614Met) c.1742A>T (p.Lys581Met) c.1613A>T (p.Lys538Met) c.1604A>T (p.Lys535Met) c.1409A>T (p.Lys470Met) | |
15 | g.50242513T>C | CA392377178 | HDC | c.1736A>G (p.Lys579Arg) c.1637A>G (p.Lys546Arg) n.1480A>G c.1499A>G (p.Lys500Arg) c.1304A>G (p.Lys435Arg) c.1841A>G (p.Lys614Arg) c.1742A>G (p.Lys581Arg) c.1613A>G (p.Lys538Arg) c.1604A>G (p.Lys535Arg) c.1409A>G (p.Lys470Arg) | |
15 | g.50242513T>G | CA392377179 | HDC | c.1736A>C (p.Lys579Thr) c.1637A>C (p.Lys546Thr) n.1480A>C c.1499A>C (p.Lys500Thr) c.1304A>C (p.Lys435Thr) c.1841A>C (p.Lys614Thr) c.1742A>C (p.Lys581Thr) c.1613A>C (p.Lys538Thr) c.1604A>C (p.Lys535Thr) c.1409A>C (p.Lys470Thr) | |
15 | g.50242514T>A | CA392377180 | HDC | c.1735A>T (p.Lys579Ter) c.1636A>T (p.Lys546Ter) n.1479A>T c.1498A>T (p.Lys500Ter) c.1303A>T (p.Lys435Ter) c.1840A>T (p.Lys614Ter) c.1741A>T (p.Lys581Ter) c.1612A>T (p.Lys538Ter) c.1603A>T (p.Lys535Ter) c.1408A>T (p.Lys470Ter) | |
15 | g.50242514T>C | CA392377181 | HDC | c.1735A>G (p.Lys579Glu) c.1636A>G (p.Lys546Glu) n.1479A>G c.1498A>G (p.Lys500Glu) c.1303A>G (p.Lys435Glu) c.1840A>G (p.Lys614Glu) c.1741A>G (p.Lys581Glu) c.1612A>G (p.Lys538Glu) c.1603A>G (p.Lys535Glu) c.1408A>G (p.Lys470Glu) | |
15 | g.50242514T>G | CA392377182 | HDC | c.1735A>C (p.Lys579Gln) c.1636A>C (p.Lys546Gln) n.1479A>C c.1498A>C (p.Lys500Gln) c.1303A>C (p.Lys435Gln) c.1840A>C (p.Lys614Gln) c.1741A>C (p.Lys581Gln) c.1612A>C (p.Lys538Gln) c.1603A>C (p.Lys535Gln) c.1408A>C (p.Lys470Gln) | |
15 | g.50242515C>A | CA392377184 | HDC | c.1734G>T (p.Lys578Asn) c.1635G>T (p.Lys545Asn) n.1478G>T c.1497G>T (p.Lys499Asn) c.1302G>T (p.Lys434Asn) c.1839G>T (p.Lys613Asn) c.1740G>T (p.Lys580Asn) c.1611G>T (p.Lys537Asn) c.1602G>T (p.Lys534Asn) c.1407G>T (p.Lys469Asn) | |
15 | g.50242515C>G | CA392377183 | HDC | c.1734G>C (p.Lys578Asn) c.1635G>C (p.Lys545Asn) n.1478G>C c.1497G>C (p.Lys499Asn) c.1302G>C (p.Lys434Asn) c.1839G>C (p.Lys613Asn) c.1740G>C (p.Lys580Asn) c.1611G>C (p.Lys537Asn) c.1602G>C (p.Lys534Asn) c.1407G>C (p.Lys469Asn) | |
15 | g.50242515C>T | CA490314183 | HDC | c.1734G>A (p.Lys578=) c.1635G>A (p.Lys545=) n.1478G>A c.1497G>A (p.Lys499=) c.1302G>A (p.Lys434=) c.1839G>A (p.Lys613=) c.1740G>A (p.Lys580=) c.1611G>A (p.Lys537=) c.1602G>A (p.Lys534=) c.1407G>A (p.Lys469=) | |
15 | g.50242516T>A | CA392377185 | HDC | c.1733A>T (p.Lys578Met) c.1634A>T (p.Lys545Met) n.1477A>T c.1496A>T (p.Lys499Met) c.1301A>T (p.Lys434Met) c.1838A>T (p.Lys613Met) c.1739A>T (p.Lys580Met) c.1610A>T (p.Lys537Met) c.1601A>T (p.Lys534Met) c.1406A>T (p.Lys469Met) | |
15 | g.50242516T>C | CA392377186 | HDC | c.1733A>G (p.Lys578Arg) c.1634A>G (p.Lys545Arg) n.1477A>G c.1496A>G (p.Lys499Arg) c.1301A>G (p.Lys434Arg) c.1838A>G (p.Lys613Arg) c.1739A>G (p.Lys580Arg) c.1610A>G (p.Lys537Arg) c.1601A>G (p.Lys534Arg) c.1406A>G (p.Lys469Arg) | |
15 | g.50242516T>G | CA392377187 | HDC | c.1733A>C (p.Lys578Thr) c.1634A>C (p.Lys545Thr) n.1477A>C c.1496A>C (p.Lys499Thr) c.1301A>C (p.Lys434Thr) c.1838A>C (p.Lys613Thr) c.1739A>C (p.Lys580Thr) c.1610A>C (p.Lys537Thr) c.1601A>C (p.Lys534Thr) c.1406A>C (p.Lys469Thr) | |
15 | g.50242517T>A | CA392377188 | HDC | c.1732A>T (p.Lys578Ter) c.1633A>T (p.Lys545Ter) n.1476A>T c.1495A>T (p.Lys499Ter) c.1300A>T (p.Lys434Ter) c.1837A>T (p.Lys613Ter) c.1738A>T (p.Lys580Ter) c.1609A>T (p.Lys537Ter) c.1600A>T (p.Lys534Ter) c.1405A>T (p.Lys469Ter) | |
15 | g.50242517T>C | CA392377189 | HDC | c.1732A>G (p.Lys578Glu) c.1633A>G (p.Lys545Glu) n.1476A>G c.1495A>G (p.Lys499Glu) c.1300A>G (p.Lys434Glu) c.1837A>G (p.Lys613Glu) c.1738A>G (p.Lys580Glu) c.1609A>G (p.Lys537Glu) c.1600A>G (p.Lys534Glu) c.1405A>G (p.Lys469Glu) | dbSNP |
15 | g.50242517T>G | CA392377190 | HDC | c.1732A>C (p.Lys578Gln) c.1633A>C (p.Lys545Gln) n.1476A>C c.1495A>C (p.Lys499Gln) c.1300A>C (p.Lys434Gln) c.1837A>C (p.Lys613Gln) c.1738A>C (p.Lys580Gln) c.1609A>C (p.Lys537Gln) c.1600A>C (p.Lys534Gln) c.1405A>C (p.Lys469Gln) | |
15 | g.50242517T= | CA2176326625 | HDC | c.1732A= (p.Lys578=) c.1633A= (p.Lys545=) n.1476A= c.1495A= (p.Lys499=) c.1300A= (p.Lys434=) c.1837A= (p.Lys613=) c.1738A= (p.Lys580=) c.1609A= (p.Lys537=) c.1600A= (p.Lys534=) c.1405A= (p.Lys469=) | |
15 | g.50242518A>C | CA490314186 | HDC | c.1731T>G (p.Thr577=) c.1632T>G (p.Thr544=) n.1475T>G c.1494T>G (p.Thr498=) c.1299T>G (p.Thr433=) c.1836T>G (p.Thr612=) c.1737T>G (p.Thr579=) c.1608T>G (p.Thr536=) c.1599T>G (p.Thr533=) c.1404T>G (p.Thr468=) | |
15 | g.50242518A>G | CA490314188 | HDC | c.1731T>C (p.Thr577=) c.1632T>C (p.Thr544=) n.1475T>C c.1494T>C (p.Thr498=) c.1299T>C (p.Thr433=) c.1836T>C (p.Thr612=) c.1737T>C (p.Thr579=) c.1608T>C (p.Thr536=) c.1599T>C (p.Thr533=) c.1404T>C (p.Thr468=) | |
15 | g.50242518A>T | CA490314190 | HDC | c.1731T>A (p.Thr577=) c.1632T>A (p.Thr544=) n.1475T>A c.1494T>A (p.Thr498=) c.1299T>A (p.Thr433=) c.1836T>A (p.Thr612=) c.1737T>A (p.Thr579=) c.1608T>A (p.Thr536=) c.1599T>A (p.Thr533=) c.1404T>A (p.Thr468=) | |
15 | g.50242519G>A | CA392377193 | HDC | c.1730C>T (p.Thr577Ile) c.1631C>T (p.Thr544Ile) n.1474C>T c.1493C>T (p.Thr498Ile) c.1298C>T (p.Thr433Ile) c.1835C>T (p.Thr612Ile) c.1736C>T (p.Thr579Ile) c.1607C>T (p.Thr536Ile) c.1598C>T (p.Thr533Ile) c.1403C>T (p.Thr468Ile) | |
15 | g.50242519G>C | CA392377191 | HDC | c.1730C>G (p.Thr577Ser) c.1631C>G (p.Thr544Ser) n.1474C>G c.1493C>G (p.Thr498Ser) c.1298C>G (p.Thr433Ser) c.1835C>G (p.Thr612Ser) c.1736C>G (p.Thr579Ser) c.1607C>G (p.Thr536Ser) c.1598C>G (p.Thr533Ser) c.1403C>G (p.Thr468Ser) | |
15 | g.50242519G>T | CA392377192 | HDC | c.1730C>A (p.Thr577Asn) c.1631C>A (p.Thr544Asn) n.1474C>A c.1493C>A (p.Thr498Asn) c.1298C>A (p.Thr433Asn) c.1835C>A (p.Thr612Asn) c.1736C>A (p.Thr579Asn) c.1607C>A (p.Thr536Asn) c.1598C>A (p.Thr533Asn) c.1403C>A (p.Thr468Asn) | |
15 | g.50242520T>A | CA7554508 | HDC | c.1729A>T (p.Thr577Ser) c.1630A>T (p.Thr544Ser) n.1473A>T c.1492A>T (p.Thr498Ser) c.1297A>T (p.Thr433Ser) c.1834A>T (p.Thr612Ser) c.1735A>T (p.Thr579Ser) c.1606A>T (p.Thr536Ser) c.1597A>T (p.Thr533Ser) c.1402A>T (p.Thr468Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242520T>C | CA392377194 | HDC | c.1729A>G (p.Thr577Ala) c.1630A>G (p.Thr544Ala) n.1473A>G c.1492A>G (p.Thr498Ala) c.1297A>G (p.Thr433Ala) c.1834A>G (p.Thr612Ala) c.1735A>G (p.Thr579Ala) c.1606A>G (p.Thr536Ala) c.1597A>G (p.Thr533Ala) c.1402A>G (p.Thr468Ala) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.50242520T>G | CA392377195 | HDC | c.1729A>C (p.Thr577Pro) c.1630A>C (p.Thr544Pro) n.1473A>C c.1492A>C (p.Thr498Pro) c.1297A>C (p.Thr433Pro) c.1834A>C (p.Thr612Pro) c.1735A>C (p.Thr579Pro) c.1606A>C (p.Thr536Pro) c.1597A>C (p.Thr533Pro) c.1402A>C (p.Thr468Pro) | |
15 | g.50242520T= | CA2176326626 | HDC | c.1729A= (p.Thr577=) c.1630A= (p.Thr544=) n.1473A= c.1492A= (p.Thr498=) c.1297A= (p.Thr433=) c.1834A= (p.Thr612=) c.1735A= (p.Thr579=) c.1606A= (p.Thr536=) c.1597A= (p.Thr533=) c.1402A= (p.Thr468=) | |
15 | g.50242521C>A | CA392377196 | HDC | c.1728G>T (p.Gln576His) c.1629G>T (p.Gln543His) n.1472G>T c.1491G>T (p.Gln497His) c.1296G>T (p.Gln432His) c.1833G>T (p.Gln611His) c.1734G>T (p.Gln578His) c.1605G>T (p.Gln535His) c.1596G>T (p.Gln532His) c.1401G>T (p.Gln467His) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.50242521C= | CA2176326627 | HDC | c.1728G= (p.Gln576=) c.1629G= (p.Gln543=) n.1472G= c.1491G= (p.Gln497=) c.1296G= (p.Gln432=) c.1833G= (p.Gln611=) c.1734G= (p.Gln578=) c.1605G= (p.Gln535=) c.1596G= (p.Gln532=) c.1401G= (p.Gln467=) | |
15 | g.50242521C>G | CA392377197 | HDC | c.1728G>C (p.Gln576His) c.1629G>C (p.Gln543His) n.1472G>C c.1491G>C (p.Gln497His) c.1296G>C (p.Gln432His) c.1833G>C (p.Gln611His) c.1734G>C (p.Gln578His) c.1605G>C (p.Gln535His) c.1596G>C (p.Gln532His) c.1401G>C (p.Gln467His) | |
15 | g.50242521C>T | CA490314192 | HDC | c.1728G>A (p.Gln576=) c.1629G>A (p.Gln543=) n.1472G>A c.1491G>A (p.Gln497=) c.1296G>A (p.Gln432=) c.1833G>A (p.Gln611=) c.1734G>A (p.Gln578=) c.1605G>A (p.Gln535=) c.1596G>A (p.Gln532=) c.1401G>A (p.Gln467=) | |
15 | g.50242522T>A | CA392377198 | HDC | c.1727A>T (p.Gln576Leu) c.1628A>T (p.Gln543Leu) n.1471A>T c.1490A>T (p.Gln497Leu) c.1295A>T (p.Gln432Leu) c.1832A>T (p.Gln611Leu) c.1733A>T (p.Gln578Leu) c.1604A>T (p.Gln535Leu) c.1595A>T (p.Gln532Leu) c.1400A>T (p.Gln467Leu) | |
15 | g.50242522T>C | CA392377200 | HDC | c.1727A>G (p.Gln576Arg) c.1628A>G (p.Gln543Arg) n.1471A>G c.1490A>G (p.Gln497Arg) c.1295A>G (p.Gln432Arg) c.1832A>G (p.Gln611Arg) c.1733A>G (p.Gln578Arg) c.1604A>G (p.Gln535Arg) c.1595A>G (p.Gln532Arg) c.1400A>G (p.Gln467Arg) | |
15 | g.50242522T>G | CA392377199 | HDC | c.1727A>C (p.Gln576Pro) c.1628A>C (p.Gln543Pro) n.1471A>C c.1490A>C (p.Gln497Pro) c.1295A>C (p.Gln432Pro) c.1832A>C (p.Gln611Pro) c.1733A>C (p.Gln578Pro) c.1604A>C (p.Gln535Pro) c.1595A>C (p.Gln532Pro) c.1400A>C (p.Gln467Pro) | |
15 | g.50242523G>A | CA392377201 | HDC | c.1726C>T (p.Gln576Ter) c.1627C>T (p.Gln543Ter) n.1470C>T c.1489C>T (p.Gln497Ter) c.1294C>T (p.Gln432Ter) c.1831C>T (p.Gln611Ter) c.1732C>T (p.Gln578Ter) c.1603C>T (p.Gln535Ter) c.1594C>T (p.Gln532Ter) c.1399C>T (p.Gln467Ter) | dbSNP |
15 | g.50242523G>C | CA392377202 | HDC | c.1726C>G (p.Gln576Glu) c.1627C>G (p.Gln543Glu) n.1470C>G c.1489C>G (p.Gln497Glu) c.1294C>G (p.Gln432Glu) c.1831C>G (p.Gln611Glu) c.1732C>G (p.Gln578Glu) c.1603C>G (p.Gln535Glu) c.1594C>G (p.Gln532Glu) c.1399C>G (p.Gln467Glu) | |
15 | g.50242523G= | CA2176326628 | HDC | c.1726C= (p.Gln576=) c.1627C= (p.Gln543=) n.1470C= c.1489C= (p.Gln497=) c.1294C= (p.Gln432=) c.1831C= (p.Gln611=) c.1732C= (p.Gln578=) c.1603C= (p.Gln535=) c.1594C= (p.Gln532=) c.1399C= (p.Gln467=) | |
15 | g.50242523G>T | CA392377203 | HDC | c.1726C>A (p.Gln576Lys) c.1627C>A (p.Gln543Lys) n.1470C>A c.1489C>A (p.Gln497Lys) c.1294C>A (p.Gln432Lys) c.1831C>A (p.Gln611Lys) c.1732C>A (p.Gln578Lys) c.1603C>A (p.Gln535Lys) c.1594C>A (p.Gln532Lys) c.1399C>A (p.Gln467Lys) | |
15 | g.50242524C>A | CA490314193 | HDC | c.1725G>T (p.Val575=) c.1626G>T (p.Val542=) n.1469G>T c.1488G>T (p.Val496=) c.1293G>T (p.Val431=) c.1830G>T (p.Val610=) c.1731G>T (p.Val577=) c.1602G>T (p.Val534=) c.1593G>T (p.Val531=) c.1398G>T (p.Val466=) | dbSNP |
15 | g.50242524C= | CA2176326629 | HDC | c.1725G= (p.Val575=) c.1626G= (p.Val542=) n.1469G= c.1488G= (p.Val496=) c.1293G= (p.Val431=) c.1830G= (p.Val610=) c.1731G= (p.Val577=) c.1602G= (p.Val534=) c.1593G= (p.Val531=) c.1398G= (p.Val466=) | |
15 | g.50242524C>G | CA490314194 | HDC | c.1725G>C (p.Val575=) c.1626G>C (p.Val542=) n.1469G>C c.1488G>C (p.Val496=) c.1293G>C (p.Val431=) c.1830G>C (p.Val610=) c.1731G>C (p.Val577=) c.1602G>C (p.Val534=) c.1593G>C (p.Val531=) c.1398G>C (p.Val466=) | |
15 | g.50242524C>T | CA490314195 | HDC | c.1725G>A (p.Val575=) c.1626G>A (p.Val542=) n.1469G>A c.1488G>A (p.Val496=) c.1293G>A (p.Val431=) c.1830G>A (p.Val610=) c.1731G>A (p.Val577=) c.1602G>A (p.Val534=) c.1593G>A (p.Val531=) c.1398G>A (p.Val466=) | |
15 | g.50242525A>C | CA392377204 | HDC | c.1724T>G (p.Val575Gly) c.1625T>G (p.Val542Gly) n.1468T>G c.1487T>G (p.Val496Gly) c.1292T>G (p.Val431Gly) c.1829T>G (p.Val610Gly) c.1730T>G (p.Val577Gly) c.1601T>G (p.Val534Gly) c.1592T>G (p.Val531Gly) c.1397T>G (p.Val466Gly) | |
15 | g.50242525A>G | CA392377205 | HDC | c.1724T>C (p.Val575Ala) c.1625T>C (p.Val542Ala) n.1468T>C c.1487T>C (p.Val496Ala) c.1292T>C (p.Val431Ala) c.1829T>C (p.Val610Ala) c.1730T>C (p.Val577Ala) c.1601T>C (p.Val534Ala) c.1592T>C (p.Val531Ala) c.1397T>C (p.Val466Ala) | |
15 | g.50242525A>T | CA392377206 | HDC | c.1724T>A (p.Val575Glu) c.1625T>A (p.Val542Glu) n.1468T>A c.1487T>A (p.Val496Glu) c.1292T>A (p.Val431Glu) c.1829T>A (p.Val610Glu) c.1730T>A (p.Val577Glu) c.1601T>A (p.Val534Glu) c.1592T>A (p.Val531Glu) c.1397T>A (p.Val466Glu) | |
15 | g.50242526C>A | CA392377207 | HDC | c.1723G>T (p.Val575Leu) c.1624G>T (p.Val542Leu) n.1467G>T c.1486G>T (p.Val496Leu) c.1291G>T (p.Val431Leu) c.1828G>T (p.Val610Leu) c.1729G>T (p.Val577Leu) c.1600G>T (p.Val534Leu) c.1591G>T (p.Val531Leu) c.1396G>T (p.Val466Leu) | |
15 | g.50242526C>G | CA392377208 | HDC | c.1723G>C (p.Val575Leu) c.1624G>C (p.Val542Leu) n.1467G>C c.1486G>C (p.Val496Leu) c.1291G>C (p.Val431Leu) c.1828G>C (p.Val610Leu) c.1729G>C (p.Val577Leu) c.1600G>C (p.Val534Leu) c.1591G>C (p.Val531Leu) c.1396G>C (p.Val466Leu) | |
15 | g.50242526C>T | CA392377209 | HDC | c.1723G>A (p.Val575Met) c.1624G>A (p.Val542Met) n.1467G>A c.1486G>A (p.Val496Met) c.1291G>A (p.Val431Met) c.1828G>A (p.Val610Met) c.1729G>A (p.Val577Met) c.1600G>A (p.Val534Met) c.1591G>A (p.Val531Met) c.1396G>A (p.Val466Met) | |
15 | g.50242527A>C | CA490314197 | HDC | c.1722T>G (p.Ser574=) c.1623T>G (p.Ser541=) n.1466T>G c.1485T>G (p.Ser495=) c.1290T>G (p.Ser430=) c.1827T>G (p.Ser609=) c.1728T>G (p.Ser576=) c.1599T>G (p.Ser533=) c.1590T>G (p.Ser530=) c.1395T>G (p.Ser465=) | |
15 | g.50242527A>G | CA490314198 | HDC | c.1722T>C (p.Ser574=) c.1623T>C (p.Ser541=) n.1466T>C c.1485T>C (p.Ser495=) c.1290T>C (p.Ser430=) c.1827T>C (p.Ser609=) c.1728T>C (p.Ser576=) c.1599T>C (p.Ser533=) c.1590T>C (p.Ser530=) c.1395T>C (p.Ser465=) | |
15 | g.50242527A>T | CA490314199 | HDC | c.1722T>A (p.Ser574=) c.1623T>A (p.Ser541=) n.1466T>A c.1485T>A (p.Ser495=) c.1290T>A (p.Ser430=) c.1827T>A (p.Ser609=) c.1728T>A (p.Ser576=) c.1599T>A (p.Ser533=) c.1590T>A (p.Ser530=) c.1395T>A (p.Ser465=) | |
15 | g.50242528G>A | CA7554509 | HDC | c.1721C>T (p.Ser574Phe) c.1622C>T (p.Ser541Phe) n.1465C>T c.1484C>T (p.Ser495Phe) c.1289C>T (p.Ser430Phe) c.1826C>T (p.Ser609Phe) c.1727C>T (p.Ser576Phe) c.1598C>T (p.Ser533Phe) c.1589C>T (p.Ser530Phe) c.1394C>T (p.Ser465Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242528G>C | CA392377210 | HDC | c.1721C>G (p.Ser574Cys) c.1622C>G (p.Ser541Cys) n.1465C>G c.1484C>G (p.Ser495Cys) c.1289C>G (p.Ser430Cys) c.1826C>G (p.Ser609Cys) c.1727C>G (p.Ser576Cys) c.1598C>G (p.Ser533Cys) c.1589C>G (p.Ser530Cys) c.1394C>G (p.Ser465Cys) | |
15 | g.50242528G= | CA2176326630 | HDC | c.1721C= (p.Ser574=) c.1622C= (p.Ser541=) n.1465C= c.1484C= (p.Ser495=) c.1289C= (p.Ser430=) c.1826C= (p.Ser609=) c.1727C= (p.Ser576=) c.1598C= (p.Ser533=) c.1589C= (p.Ser530=) c.1394C= (p.Ser465=) | |
15 | g.50242528G>T | CA392377211 | HDC | c.1721C>A (p.Ser574Tyr) c.1622C>A (p.Ser541Tyr) n.1465C>A c.1484C>A (p.Ser495Tyr) c.1289C>A (p.Ser430Tyr) c.1826C>A (p.Ser609Tyr) c.1727C>A (p.Ser576Tyr) c.1598C>A (p.Ser533Tyr) c.1589C>A (p.Ser530Tyr) c.1394C>A (p.Ser465Tyr) | |
15 | g.50242529A= | CA2176326631 | HDC | c.1720T= (p.Ser574=) c.1621T= (p.Ser541=) n.1464T= c.1483T= (p.Ser495=) c.1288T= (p.Ser430=) c.1825T= (p.Ser609=) c.1726T= (p.Ser576=) c.1597T= (p.Ser533=) c.1588T= (p.Ser530=) c.1393T= (p.Ser465=) | |
15 | g.50242529A>C | CA392377213 | HDC | c.1720T>G (p.Ser574Ala) c.1621T>G (p.Ser541Ala) n.1464T>G c.1483T>G (p.Ser495Ala) c.1288T>G (p.Ser430Ala) c.1825T>G (p.Ser609Ala) c.1726T>G (p.Ser576Ala) c.1597T>G (p.Ser533Ala) c.1588T>G (p.Ser530Ala) c.1393T>G (p.Ser465Ala) | dbSNP |
15 | g.50242529A>G | CA392377214 | HDC | c.1720T>C (p.Ser574Pro) c.1621T>C (p.Ser541Pro) n.1464T>C c.1483T>C (p.Ser495Pro) c.1288T>C (p.Ser430Pro) c.1825T>C (p.Ser609Pro) c.1726T>C (p.Ser576Pro) c.1597T>C (p.Ser533Pro) c.1588T>C (p.Ser530Pro) c.1393T>C (p.Ser465Pro) | |
15 | g.50242529A>T | CA392377212 | HDC | c.1720T>A (p.Ser574Thr) c.1621T>A (p.Ser541Thr) n.1464T>A c.1483T>A (p.Ser495Thr) c.1288T>A (p.Ser430Thr) c.1825T>A (p.Ser609Thr) c.1726T>A (p.Ser576Thr) c.1597T>A (p.Ser533Thr) c.1588T>A (p.Ser530Thr) c.1393T>A (p.Ser465Thr) | |
15 | g.50242530C>A | CA392377215 | HDC | c.1719G>T (p.Leu573Phe) c.1620G>T (p.Leu540Phe) n.1463G>T c.1482G>T (p.Leu494Phe) c.1287G>T (p.Leu429Phe) c.1824G>T (p.Leu608Phe) c.1725G>T (p.Leu575Phe) c.1596G>T (p.Leu532Phe) c.1587G>T (p.Leu529Phe) c.1392G>T (p.Leu464Phe) | |
15 | g.50242530C>G | CA392377216 | HDC | c.1719G>C (p.Leu573Phe) c.1620G>C (p.Leu540Phe) n.1463G>C c.1482G>C (p.Leu494Phe) c.1287G>C (p.Leu429Phe) c.1824G>C (p.Leu608Phe) c.1725G>C (p.Leu575Phe) c.1596G>C (p.Leu532Phe) c.1587G>C (p.Leu529Phe) c.1392G>C (p.Leu464Phe) | |
15 | g.50242530C>T | CA490314201 | HDC | c.1719G>A (p.Leu573=) c.1620G>A (p.Leu540=) n.1463G>A c.1482G>A (p.Leu494=) c.1287G>A (p.Leu429=) c.1824G>A (p.Leu608=) c.1725G>A (p.Leu575=) c.1596G>A (p.Leu532=) c.1587G>A (p.Leu529=) c.1392G>A (p.Leu464=) | |
15 | g.50242531A= | CA2176326632 | HDC | c.1718T= (p.Leu573=) c.1619T= (p.Leu540=) n.1462T= c.1481T= (p.Leu494=) c.1286T= (p.Leu429=) c.1823T= (p.Leu608=) c.1724T= (p.Leu575=) c.1595T= (p.Leu532=) c.1586T= (p.Leu529=) c.1391T= (p.Leu464=) | |
15 | g.50242531A>C | CA392377217 | HDC | c.1718T>G (p.Leu573Trp) c.1619T>G (p.Leu540Trp) n.1462T>G c.1481T>G (p.Leu494Trp) c.1286T>G (p.Leu429Trp) c.1823T>G (p.Leu608Trp) c.1724T>G (p.Leu575Trp) c.1595T>G (p.Leu532Trp) c.1586T>G (p.Leu529Trp) c.1391T>G (p.Leu464Trp) | |
15 | g.50242531A>G | CA392377219 | HDC | c.1718T>C (p.Leu573Ser) c.1619T>C (p.Leu540Ser) n.1462T>C c.1481T>C (p.Leu494Ser) c.1286T>C (p.Leu429Ser) c.1823T>C (p.Leu608Ser) c.1724T>C (p.Leu575Ser) c.1595T>C (p.Leu532Ser) c.1586T>C (p.Leu529Ser) c.1391T>C (p.Leu464Ser) | dbSNP |
15 | g.50242531A>T | CA392377218 | HDC | c.1718T>A (p.Leu573Ter) c.1619T>A (p.Leu540Ter) n.1462T>A c.1481T>A (p.Leu494Ter) c.1286T>A (p.Leu429Ter) c.1823T>A (p.Leu608Ter) c.1724T>A (p.Leu575Ter) c.1595T>A (p.Leu532Ter) c.1586T>A (p.Leu529Ter) c.1391T>A (p.Leu464Ter) | |
15 | g.50242532A>C | CA392377220 | HDC | c.1717T>G (p.Leu573Val) c.1618T>G (p.Leu540Val) n.1461T>G c.1480T>G (p.Leu494Val) c.1285T>G (p.Leu429Val) c.1822T>G (p.Leu608Val) c.1723T>G (p.Leu575Val) c.1594T>G (p.Leu532Val) c.1585T>G (p.Leu529Val) c.1390T>G (p.Leu464Val) | |
15 | g.50242532A>G | CA490314202 | HDC | c.1717T>C (p.Leu573=) c.1618T>C (p.Leu540=) n.1461T>C c.1480T>C (p.Leu494=) c.1285T>C (p.Leu429=) c.1822T>C (p.Leu608=) c.1723T>C (p.Leu575=) c.1594T>C (p.Leu532=) c.1585T>C (p.Leu529=) c.1390T>C (p.Leu464=) | |
15 | g.50242532A>T | CA392377221 | HDC | c.1717T>A (p.Leu573Met) c.1618T>A (p.Leu540Met) n.1461T>A c.1480T>A (p.Leu494Met) c.1285T>A (p.Leu429Met) c.1822T>A (p.Leu608Met) c.1723T>A (p.Leu575Met) c.1594T>A (p.Leu532Met) c.1585T>A (p.Leu529Met) c.1390T>A (p.Leu464Met) | |
15 | g.50242533G>A | CA490314203 | HDC | c.1716C>T (p.Tyr572=) c.1617C>T (p.Tyr539=) n.1460C>T c.1479C>T (p.Tyr493=) c.1284C>T (p.Tyr428=) c.1821C>T (p.Tyr607=) c.1722C>T (p.Tyr574=) c.1593C>T (p.Tyr531=) c.1584C>T (p.Tyr528=) c.1389C>T (p.Tyr463=) | dbSNP |
15 | g.50242533G>C | CA392377222 | HDC | c.1716C>G (p.Tyr572Ter) c.1617C>G (p.Tyr539Ter) n.1460C>G c.1479C>G (p.Tyr493Ter) c.1284C>G (p.Tyr428Ter) c.1821C>G (p.Tyr607Ter) c.1722C>G (p.Tyr574Ter) c.1593C>G (p.Tyr531Ter) c.1584C>G (p.Tyr528Ter) c.1389C>G (p.Tyr463Ter) | |
15 | g.50242533G>T | CA392377223 | HDC | c.1716C>A (p.Tyr572Ter) c.1617C>A (p.Tyr539Ter) n.1460C>A c.1479C>A (p.Tyr493Ter) c.1284C>A (p.Tyr428Ter) c.1821C>A (p.Tyr607Ter) c.1722C>A (p.Tyr574Ter) c.1593C>A (p.Tyr531Ter) c.1584C>A (p.Tyr528Ter) c.1389C>A (p.Tyr463Ter) | |
15 | g.50242534T>A | CA392377224 | HDC | c.1715A>T (p.Tyr572Phe) c.1616A>T (p.Tyr539Phe) n.1459A>T c.1478A>T (p.Tyr493Phe) c.1283A>T (p.Tyr428Phe) c.1820A>T (p.Tyr607Phe) c.1721A>T (p.Tyr574Phe) c.1592A>T (p.Tyr531Phe) c.1583A>T (p.Tyr528Phe) c.1388A>T (p.Tyr463Phe) | |
15 | g.50242534T>C | CA392377225 | HDC | c.1715A>G (p.Tyr572Cys) c.1616A>G (p.Tyr539Cys) n.1459A>G c.1478A>G (p.Tyr493Cys) c.1283A>G (p.Tyr428Cys) c.1820A>G (p.Tyr607Cys) c.1721A>G (p.Tyr574Cys) c.1592A>G (p.Tyr531Cys) c.1583A>G (p.Tyr528Cys) c.1388A>G (p.Tyr463Cys) | |
15 | g.50242534T>G | CA392377226 | HDC | c.1715A>C (p.Tyr572Ser) c.1616A>C (p.Tyr539Ser) n.1459A>C c.1478A>C (p.Tyr493Ser) c.1283A>C (p.Tyr428Ser) c.1820A>C (p.Tyr607Ser) c.1721A>C (p.Tyr574Ser) c.1592A>C (p.Tyr531Ser) c.1583A>C (p.Tyr528Ser) c.1388A>C (p.Tyr463Ser) | |
15 | g.50242535A>C | CA392377227 | HDC | c.1714T>G (p.Tyr572Asp) c.1615T>G (p.Tyr539Asp) n.1458T>G c.1477T>G (p.Tyr493Asp) c.1282T>G (p.Tyr428Asp) c.1819T>G (p.Tyr607Asp) c.1720T>G (p.Tyr574Asp) c.1591T>G (p.Tyr531Asp) c.1582T>G (p.Tyr528Asp) c.1387T>G (p.Tyr463Asp) | |
15 | g.50242535A>G | CA392377228 | HDC | c.1714T>C (p.Tyr572His) c.1615T>C (p.Tyr539His) n.1458T>C c.1477T>C (p.Tyr493His) c.1282T>C (p.Tyr428His) c.1819T>C (p.Tyr607His) c.1720T>C (p.Tyr574His) c.1591T>C (p.Tyr531His) c.1582T>C (p.Tyr528His) c.1387T>C (p.Tyr463His) | |
15 | g.50242535A>T | CA392377229 | HDC | c.1714T>A (p.Tyr572Asn) c.1615T>A (p.Tyr539Asn) n.1458T>A c.1477T>A (p.Tyr493Asn) c.1282T>A (p.Tyr428Asn) c.1819T>A (p.Tyr607Asn) c.1720T>A (p.Tyr574Asn) c.1591T>A (p.Tyr531Asn) c.1582T>A (p.Tyr528Asn) c.1387T>A (p.Tyr463Asn) | |
15 | g.50242536A>C | CA392377230 | HDC | c.1713T>G (p.Ser571Arg) c.1614T>G (p.Ser538Arg) n.1457T>G c.1476T>G (p.Ser492Arg) c.1281T>G (p.Ser427Arg) c.1818T>G (p.Ser606Arg) c.1719T>G (p.Ser573Arg) c.1590T>G (p.Ser530Arg) c.1581T>G (p.Ser527Arg) c.1386T>G (p.Ser462Arg) | |
15 | g.50242536A>G | CA490314205 | HDC | c.1713T>C (p.Ser571=) c.1614T>C (p.Ser538=) n.1457T>C c.1476T>C (p.Ser492=) c.1281T>C (p.Ser427=) c.1818T>C (p.Ser606=) c.1719T>C (p.Ser573=) c.1590T>C (p.Ser530=) c.1581T>C (p.Ser527=) c.1386T>C (p.Ser462=) | |
15 | g.50242536A>T | CA392377231 | HDC | c.1713T>A (p.Ser571Arg) c.1614T>A (p.Ser538Arg) n.1457T>A c.1476T>A (p.Ser492Arg) c.1281T>A (p.Ser427Arg) c.1818T>A (p.Ser606Arg) c.1719T>A (p.Ser573Arg) c.1590T>A (p.Ser530Arg) c.1581T>A (p.Ser527Arg) c.1386T>A (p.Ser462Arg) | |
15 | g.50242537C>A | CA392377234 | HDC | c.1712G>T (p.Ser571Ile) c.1613G>T (p.Ser538Ile) n.1456G>T c.1475G>T (p.Ser492Ile) c.1280G>T (p.Ser427Ile) c.1817G>T (p.Ser606Ile) c.1718G>T (p.Ser573Ile) c.1589G>T (p.Ser530Ile) c.1580G>T (p.Ser527Ile) c.1385G>T (p.Ser462Ile) | |
15 | g.50242537C>G | CA392377232 | HDC | c.1712G>C (p.Ser571Thr) c.1613G>C (p.Ser538Thr) n.1456G>C c.1475G>C (p.Ser492Thr) c.1280G>C (p.Ser427Thr) c.1817G>C (p.Ser606Thr) c.1718G>C (p.Ser573Thr) c.1589G>C (p.Ser530Thr) c.1580G>C (p.Ser527Thr) c.1385G>C (p.Ser462Thr) | |
15 | g.50242537C>T | CA392377233 | HDC | c.1712G>A (p.Ser571Asn) c.1613G>A (p.Ser538Asn) n.1456G>A c.1475G>A (p.Ser492Asn) c.1280G>A (p.Ser427Asn) c.1817G>A (p.Ser606Asn) c.1718G>A (p.Ser573Asn) c.1589G>A (p.Ser530Asn) c.1580G>A (p.Ser527Asn) c.1385G>A (p.Ser462Asn) | |
15 | g.50242538T>A | CA392377235 | HDC | c.1711A>T (p.Ser571Cys) c.1612A>T (p.Ser538Cys) n.1455A>T c.1474A>T (p.Ser492Cys) c.1279A>T (p.Ser427Cys) c.1816A>T (p.Ser606Cys) c.1717A>T (p.Ser573Cys) c.1588A>T (p.Ser530Cys) c.1579A>T (p.Ser527Cys) c.1384A>T (p.Ser462Cys) | |
15 | g.50242538T>C | CA392377236 | HDC | c.1711A>G (p.Ser571Gly) c.1612A>G (p.Ser538Gly) n.1455A>G c.1474A>G (p.Ser492Gly) c.1279A>G (p.Ser427Gly) c.1816A>G (p.Ser606Gly) c.1717A>G (p.Ser573Gly) c.1588A>G (p.Ser530Gly) c.1579A>G (p.Ser527Gly) c.1384A>G (p.Ser462Gly) | |
15 | g.50242538T>G | CA392377237 | HDC | c.1711A>C (p.Ser571Arg) c.1612A>C (p.Ser538Arg) n.1455A>C c.1474A>C (p.Ser492Arg) c.1279A>C (p.Ser427Arg) c.1816A>C (p.Ser606Arg) c.1717A>C (p.Ser573Arg) c.1588A>C (p.Ser530Arg) c.1579A>C (p.Ser527Arg) c.1384A>C (p.Ser462Arg) | |
15 | g.50242539G>A | CA490314208 | HDC | c.1710C>T (p.Phe570=) c.1611C>T (p.Phe537=) n.1454C>T c.1473C>T (p.Phe491=) c.1278C>T (p.Phe426=) c.1815C>T (p.Phe605=) c.1716C>T (p.Phe572=) c.1587C>T (p.Phe529=) c.1578C>T (p.Phe526=) c.1383C>T (p.Phe461=) | COSMIC |
15 | g.50242539G>C | CA392377238 | HDC | c.1710C>G (p.Phe570Leu) c.1611C>G (p.Phe537Leu) n.1454C>G c.1473C>G (p.Phe491Leu) c.1278C>G (p.Phe426Leu) c.1815C>G (p.Phe605Leu) c.1716C>G (p.Phe572Leu) c.1587C>G (p.Phe529Leu) c.1578C>G (p.Phe526Leu) c.1383C>G (p.Phe461Leu) | |
15 | g.50242539G>T | CA392377239 | HDC | c.1710C>A (p.Phe570Leu) c.1611C>A (p.Phe537Leu) n.1454C>A c.1473C>A (p.Phe491Leu) c.1278C>A (p.Phe426Leu) c.1815C>A (p.Phe605Leu) c.1716C>A (p.Phe572Leu) c.1587C>A (p.Phe529Leu) c.1578C>A (p.Phe526Leu) c.1383C>A (p.Phe461Leu) | |
15 | g.50242540A>C | CA392377240 | HDC | c.1709T>G (p.Phe570Cys) c.1610T>G (p.Phe537Cys) n.1453T>G c.1472T>G (p.Phe491Cys) c.1277T>G (p.Phe426Cys) c.1814T>G (p.Phe605Cys) c.1715T>G (p.Phe572Cys) c.1586T>G (p.Phe529Cys) c.1577T>G (p.Phe526Cys) c.1382T>G (p.Phe461Cys) | |
15 | g.50242540A>G | CA392377241 | HDC | c.1709T>C (p.Phe570Ser) c.1610T>C (p.Phe537Ser) n.1453T>C c.1472T>C (p.Phe491Ser) c.1277T>C (p.Phe426Ser) c.1814T>C (p.Phe605Ser) c.1715T>C (p.Phe572Ser) c.1586T>C (p.Phe529Ser) c.1577T>C (p.Phe526Ser) c.1382T>C (p.Phe461Ser) | |
15 | g.50242540A>T | CA392377242 | HDC | c.1709T>A (p.Phe570Tyr) c.1610T>A (p.Phe537Tyr) n.1453T>A c.1472T>A (p.Phe491Tyr) c.1277T>A (p.Phe426Tyr) c.1814T>A (p.Phe605Tyr) c.1715T>A (p.Phe572Tyr) c.1586T>A (p.Phe529Tyr) c.1577T>A (p.Phe526Tyr) c.1382T>A (p.Phe461Tyr) | |
15 | g.50242541A>C | CA392377243 | HDC | c.1708T>G (p.Phe570Val) c.1609T>G (p.Phe537Val) n.1452T>G c.1471T>G (p.Phe491Val) c.1276T>G (p.Phe426Val) c.1813T>G (p.Phe605Val) c.1714T>G (p.Phe572Val) c.1585T>G (p.Phe529Val) c.1576T>G (p.Phe526Val) c.1381T>G (p.Phe461Val) | |
15 | g.50242541A>G | CA392377244 | HDC | c.1708T>C (p.Phe570Leu) c.1609T>C (p.Phe537Leu) n.1452T>C c.1471T>C (p.Phe491Leu) c.1276T>C (p.Phe426Leu) c.1813T>C (p.Phe605Leu) c.1714T>C (p.Phe572Leu) c.1585T>C (p.Phe529Leu) c.1576T>C (p.Phe526Leu) c.1381T>C (p.Phe461Leu) | gnomAD v4 COSMIC |
15 | g.50242541A>T | CA392377245 | HDC | c.1708T>A (p.Phe570Ile) c.1609T>A (p.Phe537Ile) n.1452T>A c.1471T>A (p.Phe491Ile) c.1276T>A (p.Phe426Ile) c.1813T>A (p.Phe605Ile) c.1714T>A (p.Phe572Ile) c.1585T>A (p.Phe529Ile) c.1576T>A (p.Phe526Ile) c.1381T>A (p.Phe461Ile) | |
15 | g.50242542C>A | CA490314210 | HDC | c.1707G>T (p.Leu569=) c.1608G>T (p.Leu536=) n.1451G>T c.1470G>T (p.Leu490=) c.1275G>T (p.Leu425=) c.1812G>T (p.Leu604=) c.1713G>T (p.Leu571=) c.1584G>T (p.Leu528=) c.1575G>T (p.Leu525=) c.1380G>T (p.Leu460=) | |
15 | g.50242542C>G | CA490314211 | HDC | c.1707G>C (p.Leu569=) c.1608G>C (p.Leu536=) n.1451G>C c.1470G>C (p.Leu490=) c.1275G>C (p.Leu425=) c.1812G>C (p.Leu604=) c.1713G>C (p.Leu571=) c.1584G>C (p.Leu528=) c.1575G>C (p.Leu525=) c.1380G>C (p.Leu460=) | gnomAD v4 |
15 | g.50242542C>T | CA490314212 | HDC | c.1707G>A (p.Leu569=) c.1608G>A (p.Leu536=) n.1451G>A c.1470G>A (p.Leu490=) c.1275G>A (p.Leu425=) c.1812G>A (p.Leu604=) c.1713G>A (p.Leu571=) c.1584G>A (p.Leu528=) c.1575G>A (p.Leu525=) c.1380G>A (p.Leu460=) | |
15 | g.50242543A= | CA2176326633 | HDC | c.1706T= (p.Leu569=) c.1607T= (p.Leu536=) n.1450T= c.1469T= (p.Leu490=) c.1274T= (p.Leu425=) c.1811T= (p.Leu604=) c.1712T= (p.Leu571=) c.1583T= (p.Leu528=) c.1574T= (p.Leu525=) c.1379T= (p.Leu460=) | |
15 | g.50242543A>C | CA392377247 | HDC | c.1706T>G (p.Leu569Arg) c.1607T>G (p.Leu536Arg) n.1450T>G c.1469T>G (p.Leu490Arg) c.1274T>G (p.Leu425Arg) c.1811T>G (p.Leu604Arg) c.1712T>G (p.Leu571Arg) c.1583T>G (p.Leu528Arg) c.1574T>G (p.Leu525Arg) c.1379T>G (p.Leu460Arg) | |
15 | g.50242543A>G | CA7554510 | HDC | c.1706T>C (p.Leu569Pro) c.1607T>C (p.Leu536Pro) n.1450T>C c.1469T>C (p.Leu490Pro) c.1274T>C (p.Leu425Pro) c.1811T>C (p.Leu604Pro) c.1712T>C (p.Leu571Pro) c.1583T>C (p.Leu528Pro) c.1574T>C (p.Leu525Pro) c.1379T>C (p.Leu460Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242543A>T | CA392377246 | HDC | c.1706T>A (p.Leu569Gln) c.1607T>A (p.Leu536Gln) n.1450T>A c.1469T>A (p.Leu490Gln) c.1274T>A (p.Leu425Gln) c.1811T>A (p.Leu604Gln) c.1712T>A (p.Leu571Gln) c.1583T>A (p.Leu528Gln) c.1574T>A (p.Leu525Gln) c.1379T>A (p.Leu460Gln) | |
15 | g.50242544G>A | CA490314213 | HDC | c.1705C>T (p.Leu569=) c.1606C>T (p.Leu536=) n.1449C>T c.1468C>T (p.Leu490=) c.1273C>T (p.Leu425=) c.1810C>T (p.Leu604=) c.1711C>T (p.Leu571=) c.1582C>T (p.Leu528=) c.1573C>T (p.Leu525=) c.1378C>T (p.Leu460=) | |
15 | g.50242544G>C | CA392377248 | HDC | c.1705C>G (p.Leu569Val) c.1606C>G (p.Leu536Val) n.1449C>G c.1468C>G (p.Leu490Val) c.1273C>G (p.Leu425Val) c.1810C>G (p.Leu604Val) c.1711C>G (p.Leu571Val) c.1582C>G (p.Leu528Val) c.1573C>G (p.Leu525Val) c.1378C>G (p.Leu460Val) | |
15 | g.50242544G>T | CA392377249 | HDC | c.1705C>A (p.Leu569Met) c.1606C>A (p.Leu536Met) n.1449C>A c.1468C>A (p.Leu490Met) c.1273C>A (p.Leu425Met) c.1810C>A (p.Leu604Met) c.1711C>A (p.Leu571Met) c.1582C>A (p.Leu528Met) c.1573C>A (p.Leu525Met) c.1378C>A (p.Leu460Met) | |
15 | g.50242545G>A | CA7554511 | HDC | c.1704C>T (p.Phe568=) c.1605C>T (p.Phe535=) n.1448C>T c.1467C>T (p.Phe489=) c.1272C>T (p.Phe424=) c.1809C>T (p.Phe603=) c.1710C>T (p.Phe570=) c.1581C>T (p.Phe527=) c.1572C>T (p.Phe524=) c.1377C>T (p.Phe459=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242545G>C | CA392377250 | HDC | c.1704C>G (p.Phe568Leu) c.1605C>G (p.Phe535Leu) n.1448C>G c.1467C>G (p.Phe489Leu) c.1272C>G (p.Phe424Leu) c.1809C>G (p.Phe603Leu) c.1710C>G (p.Phe570Leu) c.1581C>G (p.Phe527Leu) c.1572C>G (p.Phe524Leu) c.1377C>G (p.Phe459Leu) | |
15 | g.50242545G= | CA2176326634 | HDC | c.1704C= (p.Phe568=) c.1605C= (p.Phe535=) n.1448C= c.1467C= (p.Phe489=) c.1272C= (p.Phe424=) c.1809C= (p.Phe603=) c.1710C= (p.Phe570=) c.1581C= (p.Phe527=) c.1572C= (p.Phe524=) c.1377C= (p.Phe459=) | |
15 | g.50242545G>T | CA392377251 | HDC | c.1704C>A (p.Phe568Leu) c.1605C>A (p.Phe535Leu) n.1448C>A c.1467C>A (p.Phe489Leu) c.1272C>A (p.Phe424Leu) c.1809C>A (p.Phe603Leu) c.1710C>A (p.Phe570Leu) c.1581C>A (p.Phe527Leu) c.1572C>A (p.Phe524Leu) c.1377C>A (p.Phe459Leu) | |
15 | g.50242546A= | CA2176326636 | HDC | c.1703T= (p.Phe568=) c.1604T= (p.Phe535=) n.1447T= c.1466T= (p.Phe489=) c.1271T= (p.Phe424=) c.1808T= (p.Phe603=) c.1709T= (p.Phe570=) c.1580T= (p.Phe527=) c.1571T= (p.Phe524=) c.1376T= (p.Phe459=) | |
15 | g.50242546A>C | CA392377252 | HDC | c.1703T>G (p.Phe568Cys) c.1604T>G (p.Phe535Cys) n.1447T>G c.1466T>G (p.Phe489Cys) c.1271T>G (p.Phe424Cys) c.1808T>G (p.Phe603Cys) c.1709T>G (p.Phe570Cys) c.1580T>G (p.Phe527Cys) c.1571T>G (p.Phe524Cys) c.1376T>G (p.Phe459Cys) | |
15 | g.50242546A>G | CA392377253 | HDC | c.1703T>C (p.Phe568Ser) c.1604T>C (p.Phe535Ser) n.1447T>C c.1466T>C (p.Phe489Ser) c.1271T>C (p.Phe424Ser) c.1808T>C (p.Phe603Ser) c.1709T>C (p.Phe570Ser) c.1580T>C (p.Phe527Ser) c.1571T>C (p.Phe524Ser) c.1376T>C (p.Phe459Ser) | |
15 | g.50242546A>T | CA7554513 | HDC | c.1703T>A (p.Phe568Tyr) c.1604T>A (p.Phe535Tyr) n.1447T>A c.1466T>A (p.Phe489Tyr) c.1271T>A (p.Phe424Tyr) c.1808T>A (p.Phe603Tyr) c.1709T>A (p.Phe570Tyr) c.1580T>A (p.Phe527Tyr) c.1571T>A (p.Phe524Tyr) c.1376T>A (p.Phe459Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242546_50242549delinsAAGG | CA2176326635 | HDC | c.1700_1703delinsCCTT (p.Ser567=) c.1601_1604delinsCCTT (p.Ser534=) n.1444_1447delinsCCTT c.1463_1466delinsCCTT (p.Ser488=) c.1268_1271delinsCCTT (p.Ser423=) c.1805_1808delinsCCTT (p.Ser602=) c.1706_1709delinsCCTT (p.Ser569=) c.1577_1580delinsCCTT (p.Ser526=) c.1568_1571delinsCCTT (p.Ser523=) c.1373_1376delinsCCTT (p.Ser458=) | |
15 | g.50242547A>C | CA392377254 | HDC | c.1702T>G (p.Phe568Val) c.1603T>G (p.Phe535Val) n.1446T>G c.1465T>G (p.Phe489Val) c.1270T>G (p.Phe424Val) c.1807T>G (p.Phe603Val) c.1708T>G (p.Phe570Val) c.1579T>G (p.Phe527Val) c.1570T>G (p.Phe524Val) c.1375T>G (p.Phe459Val) | |
15 | g.50242547A>G | CA392377255 | HDC | c.1702T>C (p.Phe568Leu) c.1603T>C (p.Phe535Leu) n.1446T>C c.1465T>C (p.Phe489Leu) c.1270T>C (p.Phe424Leu) c.1807T>C (p.Phe603Leu) c.1708T>C (p.Phe570Leu) c.1579T>C (p.Phe527Leu) c.1570T>C (p.Phe524Leu) c.1375T>C (p.Phe459Leu) | |
15 | g.50242547A>T | CA392377256 | HDC | c.1702T>A (p.Phe568Ile) c.1603T>A (p.Phe535Ile) n.1446T>A c.1465T>A (p.Phe489Ile) c.1270T>A (p.Phe424Ile) c.1807T>A (p.Phe603Ile) c.1708T>A (p.Phe570Ile) c.1579T>A (p.Phe527Ile) c.1570T>A (p.Phe524Ile) c.1375T>A (p.Phe459Ile) | |
15 | g.50242551_50242553del | CA7554512 | HDC | c.1700_1702del (p.Ser567del) c.1601_1603del (p.Ser534del) n.1444_1446del c.1463_1465del (p.Ser488del) c.1268_1270del (p.Ser423del) c.1805_1807del (p.Ser602del) c.1706_1708del (p.Ser569del) c.1577_1579del (p.Ser526del) c.1568_1570del (p.Ser523del) c.1373_1375del (p.Ser458del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242548G>A | CA490314215 | HDC | c.1701C>T (p.Ser567=) c.1602C>T (p.Ser534=) n.1445C>T c.1464C>T (p.Ser488=) c.1269C>T (p.Ser423=) c.1806C>T (p.Ser602=) c.1707C>T (p.Ser569=) c.1578C>T (p.Ser526=) c.1569C>T (p.Ser523=) c.1374C>T (p.Ser458=) | COSMIC |
15 | g.50242548G>C | CA490314216 | HDC | c.1701C>G (p.Ser567=) c.1602C>G (p.Ser534=) n.1445C>G c.1464C>G (p.Ser488=) c.1269C>G (p.Ser423=) c.1806C>G (p.Ser602=) c.1707C>G (p.Ser569=) c.1578C>G (p.Ser526=) c.1569C>G (p.Ser523=) c.1374C>G (p.Ser458=) | dbSNP gnomAD v4 |
15 | g.50242548G= | CA2176326637 | HDC | c.1701C= (p.Ser567=) c.1602C= (p.Ser534=) n.1445C= c.1464C= (p.Ser488=) c.1269C= (p.Ser423=) c.1806C= (p.Ser602=) c.1707C= (p.Ser569=) c.1578C= (p.Ser526=) c.1569C= (p.Ser523=) c.1374C= (p.Ser458=) | |
15 | g.50242548G>T | CA490314217 | HDC | c.1701C>A (p.Ser567=) c.1602C>A (p.Ser534=) n.1445C>A c.1464C>A (p.Ser488=) c.1269C>A (p.Ser423=) c.1806C>A (p.Ser602=) c.1707C>A (p.Ser569=) c.1578C>A (p.Ser526=) c.1569C>A (p.Ser523=) c.1374C>A (p.Ser458=) | |
15 | g.50242549G>A | CA392377258 | HDC | c.1700C>T (p.Ser567Phe) c.1601C>T (p.Ser534Phe) n.1444C>T c.1463C>T (p.Ser488Phe) c.1268C>T (p.Ser423Phe) c.1805C>T (p.Ser602Phe) c.1706C>T (p.Ser569Phe) c.1577C>T (p.Ser526Phe) c.1568C>T (p.Ser523Phe) c.1373C>T (p.Ser458Phe) | |
15 | g.50242549G>C | CA392377259 | HDC | c.1700C>G (p.Ser567Cys) c.1601C>G (p.Ser534Cys) n.1444C>G c.1463C>G (p.Ser488Cys) c.1268C>G (p.Ser423Cys) c.1805C>G (p.Ser602Cys) c.1706C>G (p.Ser569Cys) c.1577C>G (p.Ser526Cys) c.1568C>G (p.Ser523Cys) c.1373C>G (p.Ser458Cys) | |
15 | g.50242549G>T | CA392377257 | HDC | c.1700C>A (p.Ser567Tyr) c.1601C>A (p.Ser534Tyr) n.1444C>A c.1463C>A (p.Ser488Tyr) c.1268C>A (p.Ser423Tyr) c.1805C>A (p.Ser602Tyr) c.1706C>A (p.Ser569Tyr) c.1577C>A (p.Ser526Tyr) c.1568C>A (p.Ser523Tyr) c.1373C>A (p.Ser458Tyr) | |
15 | g.50242549_50242557dup | CA618010229 | HDC | c.1692_1700dup (p.Ser567_Phe568insLeuSerSer) c.1593_1601dup (p.Ser534_Phe535insLeuSerSer) n.1436_1444dup c.1455_1463dup (p.Ser488_Phe489insLeuSerSer) c.1260_1268dup (p.Ser423_Phe424insLeuSerSer) c.1797_1805dup (p.Ser602_Phe603insLeuSerSer) c.1698_1706dup (p.Ser569_Phe570insLeuSerSer) c.1569_1577dup (p.Ser526_Phe527insLeuSerSer) c.1560_1568dup (p.Ser523_Phe524insLeuSerSer) c.1365_1373dup (p.Ser458_Phe459insLeuSerSer) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242550A>C | CA392377260 | HDC | c.1699T>G (p.Ser567Ala) c.1600T>G (p.Ser534Ala) n.1443T>G c.1462T>G (p.Ser488Ala) c.1267T>G (p.Ser423Ala) c.1804T>G (p.Ser602Ala) c.1705T>G (p.Ser569Ala) c.1576T>G (p.Ser526Ala) c.1567T>G (p.Ser523Ala) c.1372T>G (p.Ser458Ala) | |
15 | g.50242550A>G | CA392377261 | HDC | c.1699T>C (p.Ser567Pro) c.1600T>C (p.Ser534Pro) n.1443T>C c.1462T>C (p.Ser488Pro) c.1267T>C (p.Ser423Pro) c.1804T>C (p.Ser602Pro) c.1705T>C (p.Ser569Pro) c.1576T>C (p.Ser526Pro) c.1567T>C (p.Ser523Pro) c.1372T>C (p.Ser458Pro) | |
15 | g.50242550A>T | CA392377262 | HDC | c.1699T>A (p.Ser567Thr) c.1600T>A (p.Ser534Thr) n.1443T>A c.1462T>A (p.Ser488Thr) c.1267T>A (p.Ser423Thr) c.1804T>A (p.Ser602Thr) c.1705T>A (p.Ser569Thr) c.1576T>A (p.Ser526Thr) c.1567T>A (p.Ser523Thr) c.1372T>A (p.Ser458Thr) | |
15 | g.50242551G>A | CA490314220 | HDC | c.1698C>T (p.Ser566=) c.1599C>T (p.Ser533=) n.1442C>T c.1461C>T (p.Ser487=) c.1266C>T (p.Ser422=) c.1803C>T (p.Ser601=) c.1704C>T (p.Ser568=) c.1575C>T (p.Ser525=) c.1566C>T (p.Ser522=) c.1371C>T (p.Ser457=) | dbSNP COSMIC |
15 | g.50242551G>C | CA490314221 | HDC | c.1698C>G (p.Ser566=) c.1599C>G (p.Ser533=) n.1442C>G c.1461C>G (p.Ser487=) c.1266C>G (p.Ser422=) c.1803C>G (p.Ser601=) c.1704C>G (p.Ser568=) c.1575C>G (p.Ser525=) c.1566C>G (p.Ser522=) c.1371C>G (p.Ser457=) | |
15 | g.50242551G= | CA2176326638 | HDC | c.1698C= (p.Ser566=) c.1599C= (p.Ser533=) n.1442C= c.1461C= (p.Ser487=) c.1266C= (p.Ser422=) c.1803C= (p.Ser601=) c.1704C= (p.Ser568=) c.1575C= (p.Ser525=) c.1566C= (p.Ser522=) c.1371C= (p.Ser457=) | |
15 | g.50242551G>T | CA490314223 | HDC | c.1698C>A (p.Ser566=) c.1599C>A (p.Ser533=) n.1442C>A c.1461C>A (p.Ser487=) c.1266C>A (p.Ser422=) c.1803C>A (p.Ser601=) c.1704C>A (p.Ser568=) c.1575C>A (p.Ser525=) c.1566C>A (p.Ser522=) c.1371C>A (p.Ser457=) | |
15 | g.50242552G>A | CA7554514 | HDC | c.1697C>T (p.Ser566Phe) c.1598C>T (p.Ser533Phe) n.1441C>T c.1460C>T (p.Ser487Phe) c.1265C>T (p.Ser422Phe) c.1802C>T (p.Ser601Phe) c.1703C>T (p.Ser568Phe) c.1574C>T (p.Ser525Phe) c.1565C>T (p.Ser522Phe) c.1370C>T (p.Ser457Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242552G>C | CA392377263 | HDC | c.1697C>G (p.Ser566Cys) c.1598C>G (p.Ser533Cys) n.1441C>G c.1460C>G (p.Ser487Cys) c.1265C>G (p.Ser422Cys) c.1802C>G (p.Ser601Cys) c.1703C>G (p.Ser568Cys) c.1574C>G (p.Ser525Cys) c.1565C>G (p.Ser522Cys) c.1370C>G (p.Ser457Cys) | |
15 | g.50242552G= | CA2176326639 | HDC | c.1697C= (p.Ser566=) c.1598C= (p.Ser533=) n.1441C= c.1460C= (p.Ser487=) c.1265C= (p.Ser422=) c.1802C= (p.Ser601=) c.1703C= (p.Ser568=) c.1574C= (p.Ser525=) c.1565C= (p.Ser522=) c.1370C= (p.Ser457=) | |
15 | g.50242552G>T | CA392377264 | HDC | c.1697C>A (p.Ser566Tyr) c.1598C>A (p.Ser533Tyr) n.1441C>A c.1460C>A (p.Ser487Tyr) c.1265C>A (p.Ser422Tyr) c.1802C>A (p.Ser601Tyr) c.1703C>A (p.Ser568Tyr) c.1574C>A (p.Ser525Tyr) c.1565C>A (p.Ser522Tyr) c.1370C>A (p.Ser457Tyr) | |
15 | g.50242553A>C | CA392377265 | HDC | c.1696T>G (p.Ser566Ala) c.1597T>G (p.Ser533Ala) n.1440T>G c.1459T>G (p.Ser487Ala) c.1264T>G (p.Ser422Ala) c.1801T>G (p.Ser601Ala) c.1702T>G (p.Ser568Ala) c.1573T>G (p.Ser525Ala) c.1564T>G (p.Ser522Ala) c.1369T>G (p.Ser457Ala) | |
15 | g.50242553A>G | CA392377267 | HDC | c.1696T>C (p.Ser566Pro) c.1597T>C (p.Ser533Pro) n.1440T>C c.1459T>C (p.Ser487Pro) c.1264T>C (p.Ser422Pro) c.1801T>C (p.Ser601Pro) c.1702T>C (p.Ser568Pro) c.1573T>C (p.Ser525Pro) c.1564T>C (p.Ser522Pro) c.1369T>C (p.Ser457Pro) | |
15 | g.50242553A>T | CA392377266 | HDC | c.1696T>A (p.Ser566Thr) c.1597T>A (p.Ser533Thr) n.1440T>A c.1459T>A (p.Ser487Thr) c.1264T>A (p.Ser422Thr) c.1801T>A (p.Ser601Thr) c.1702T>A (p.Ser568Thr) c.1573T>A (p.Ser525Thr) c.1564T>A (p.Ser522Thr) c.1369T>A (p.Ser457Thr) | |
15 | g.50242554C>A | CA490314224 | HDC | c.1695G>T (p.Leu565=) c.1596G>T (p.Leu532=) n.1439G>T c.1458G>T (p.Leu486=) c.1263G>T (p.Leu421=) c.1800G>T (p.Leu600=) c.1701G>T (p.Leu567=) c.1572G>T (p.Leu524=) c.1563G>T (p.Leu521=) c.1368G>T (p.Leu456=) | dbSNP gnomAD v4 |
15 | g.50242554C= | CA2176326640 | HDC | c.1695G= (p.Leu565=) c.1596G= (p.Leu532=) n.1439G= c.1458G= (p.Leu486=) c.1263G= (p.Leu421=) c.1800G= (p.Leu600=) c.1701G= (p.Leu567=) c.1572G= (p.Leu524=) c.1563G= (p.Leu521=) c.1368G= (p.Leu456=) | |
15 | g.50242554C>G | CA490314225 | HDC | c.1695G>C (p.Leu565=) c.1596G>C (p.Leu532=) n.1439G>C c.1458G>C (p.Leu486=) c.1263G>C (p.Leu421=) c.1800G>C (p.Leu600=) c.1701G>C (p.Leu567=) c.1572G>C (p.Leu524=) c.1563G>C (p.Leu521=) c.1368G>C (p.Leu456=) | |
15 | g.50242554C>T | CA490314226 | HDC | c.1695G>A (p.Leu565=) c.1596G>A (p.Leu532=) n.1439G>A c.1458G>A (p.Leu486=) c.1263G>A (p.Leu421=) c.1800G>A (p.Leu600=) c.1701G>A (p.Leu567=) c.1572G>A (p.Leu524=) c.1563G>A (p.Leu521=) c.1368G>A (p.Leu456=) | |
15 | g.50242555A>C | CA392377268 | HDC | c.1694T>G (p.Leu565Arg) c.1595T>G (p.Leu532Arg) n.1438T>G c.1457T>G (p.Leu486Arg) c.1262T>G (p.Leu421Arg) c.1799T>G (p.Leu600Arg) c.1700T>G (p.Leu567Arg) c.1571T>G (p.Leu524Arg) c.1562T>G (p.Leu521Arg) c.1367T>G (p.Leu456Arg) | |
15 | g.50242555A>G | CA392377269 | HDC | c.1694T>C (p.Leu565Pro) c.1595T>C (p.Leu532Pro) n.1438T>C c.1457T>C (p.Leu486Pro) c.1262T>C (p.Leu421Pro) c.1799T>C (p.Leu600Pro) c.1700T>C (p.Leu567Pro) c.1571T>C (p.Leu524Pro) c.1562T>C (p.Leu521Pro) c.1367T>C (p.Leu456Pro) | |
15 | g.50242555A>T | CA392377270 | HDC | c.1694T>A (p.Leu565Gln) c.1595T>A (p.Leu532Gln) n.1438T>A c.1457T>A (p.Leu486Gln) c.1262T>A (p.Leu421Gln) c.1799T>A (p.Leu600Gln) c.1700T>A (p.Leu567Gln) c.1571T>A (p.Leu524Gln) c.1562T>A (p.Leu521Gln) c.1367T>A (p.Leu456Gln) | |
15 | g.50242556G>A | CA490314230 | HDC | c.1693C>T (p.Leu565=) c.1594C>T (p.Leu532=) n.1437C>T c.1456C>T (p.Leu486=) c.1261C>T (p.Leu421=) c.1798C>T (p.Leu600=) c.1699C>T (p.Leu567=) c.1570C>T (p.Leu524=) c.1561C>T (p.Leu521=) c.1366C>T (p.Leu456=) | dbSNP gnomAD v2 |
15 | g.50242556G>C | CA392377271 | HDC | c.1693C>G (p.Leu565Val) c.1594C>G (p.Leu532Val) n.1437C>G c.1456C>G (p.Leu486Val) c.1261C>G (p.Leu421Val) c.1798C>G (p.Leu600Val) c.1699C>G (p.Leu567Val) c.1570C>G (p.Leu524Val) c.1561C>G (p.Leu521Val) c.1366C>G (p.Leu456Val) | |
15 | g.50242556G= | CA2176326641 | HDC | c.1693C= (p.Leu565=) c.1594C= (p.Leu532=) n.1437C= c.1456C= (p.Leu486=) c.1261C= (p.Leu421=) c.1798C= (p.Leu600=) c.1699C= (p.Leu567=) c.1570C= (p.Leu524=) c.1561C= (p.Leu521=) c.1366C= (p.Leu456=) | |
15 | g.50242556G>T | CA392377272 | HDC | c.1693C>A (p.Leu565Met) c.1594C>A (p.Leu532Met) n.1437C>A c.1456C>A (p.Leu486Met) c.1261C>A (p.Leu421Met) c.1798C>A (p.Leu600Met) c.1699C>A (p.Leu567Met) c.1570C>A (p.Leu524Met) c.1561C>A (p.Leu521Met) c.1366C>A (p.Leu456Met) | |
15 | g.50242557C>A | CA392377273 | HDC | c.1692G>T (p.Lys564Asn) c.1593G>T (p.Lys531Asn) n.1436G>T c.1455G>T (p.Lys485Asn) c.1260G>T (p.Lys420Asn) c.1797G>T (p.Lys599Asn) c.1698G>T (p.Lys566Asn) c.1569G>T (p.Lys523Asn) c.1560G>T (p.Lys520Asn) c.1365G>T (p.Lys455Asn) | |
15 | g.50242557C>G | CA392377274 | HDC | c.1692G>C (p.Lys564Asn) c.1593G>C (p.Lys531Asn) n.1436G>C c.1455G>C (p.Lys485Asn) c.1260G>C (p.Lys420Asn) c.1797G>C (p.Lys599Asn) c.1698G>C (p.Lys566Asn) c.1569G>C (p.Lys523Asn) c.1560G>C (p.Lys520Asn) c.1365G>C (p.Lys455Asn) | |
15 | g.50242557C>T | CA490314231 | HDC | c.1692G>A (p.Lys564=) c.1593G>A (p.Lys531=) n.1436G>A c.1455G>A (p.Lys485=) c.1260G>A (p.Lys420=) c.1797G>A (p.Lys599=) c.1698G>A (p.Lys566=) c.1569G>A (p.Lys523=) c.1560G>A (p.Lys520=) c.1365G>A (p.Lys455=) | gnomAD v4 |
15 | g.50242558T>A | CA392377275 | HDC | c.1691A>T (p.Lys564Met) c.1592A>T (p.Lys531Met) n.1435A>T c.1454A>T (p.Lys485Met) c.1259A>T (p.Lys420Met) c.1796A>T (p.Lys599Met) c.1697A>T (p.Lys566Met) c.1568A>T (p.Lys523Met) c.1559A>T (p.Lys520Met) c.1364A>T (p.Lys455Met) | |
15 | g.50242558T>C | CA392377277 | HDC | c.1691A>G (p.Lys564Arg) c.1592A>G (p.Lys531Arg) n.1435A>G c.1454A>G (p.Lys485Arg) c.1259A>G (p.Lys420Arg) c.1796A>G (p.Lys599Arg) c.1697A>G (p.Lys566Arg) c.1568A>G (p.Lys523Arg) c.1559A>G (p.Lys520Arg) c.1364A>G (p.Lys455Arg) | COSMIC |
15 | g.50242558T>G | CA392377276 | HDC | c.1691A>C (p.Lys564Thr) c.1592A>C (p.Lys531Thr) n.1435A>C c.1454A>C (p.Lys485Thr) c.1259A>C (p.Lys420Thr) c.1796A>C (p.Lys599Thr) c.1697A>C (p.Lys566Thr) c.1568A>C (p.Lys523Thr) c.1559A>C (p.Lys520Thr) c.1364A>C (p.Lys455Thr) | |
15 | g.50242559T>A | CA392377278 | HDC | c.1690A>T (p.Lys564Ter) c.1591A>T (p.Lys531Ter) n.1434A>T c.1453A>T (p.Lys485Ter) c.1258A>T (p.Lys420Ter) c.1795A>T (p.Lys599Ter) c.1696A>T (p.Lys566Ter) c.1567A>T (p.Lys523Ter) c.1558A>T (p.Lys520Ter) c.1363A>T (p.Lys455Ter) | |
15 | g.50242559T>C | CA392377279 | HDC | c.1690A>G (p.Lys564Glu) c.1591A>G (p.Lys531Glu) n.1434A>G c.1453A>G (p.Lys485Glu) c.1258A>G (p.Lys420Glu) c.1795A>G (p.Lys599Glu) c.1696A>G (p.Lys566Glu) c.1567A>G (p.Lys523Glu) c.1558A>G (p.Lys520Glu) c.1363A>G (p.Lys455Glu) | |
15 | g.50242559T>G | CA392377280 | HDC | c.1690A>C (p.Lys564Gln) c.1591A>C (p.Lys531Gln) n.1434A>C c.1453A>C (p.Lys485Gln) c.1258A>C (p.Lys420Gln) c.1795A>C (p.Lys599Gln) c.1696A>C (p.Lys566Gln) c.1567A>C (p.Lys523Gln) c.1558A>C (p.Lys520Gln) c.1363A>C (p.Lys455Gln) | |
15 | g.50242560G>A | CA490314232 | HDC | c.1689C>T (p.His563=) c.1590C>T (p.His530=) n.1433C>T c.1452C>T (p.His484=) c.1257C>T (p.His419=) c.1794C>T (p.His598=) c.1695C>T (p.His565=) c.1566C>T (p.His522=) c.1557C>T (p.His519=) c.1362C>T (p.His454=) | gnomAD v4 |
15 | g.50242560G>C | CA392377281 | HDC | c.1689C>G (p.His563Gln) c.1590C>G (p.His530Gln) n.1433C>G c.1452C>G (p.His484Gln) c.1257C>G (p.His419Gln) c.1794C>G (p.His598Gln) c.1695C>G (p.His565Gln) c.1566C>G (p.His522Gln) c.1557C>G (p.His519Gln) c.1362C>G (p.His454Gln) | |
15 | g.50242560G>T | CA392377282 | HDC | c.1689C>A (p.His563Gln) c.1590C>A (p.His530Gln) n.1433C>A c.1452C>A (p.His484Gln) c.1257C>A (p.His419Gln) c.1794C>A (p.His598Gln) c.1695C>A (p.His565Gln) c.1566C>A (p.His522Gln) c.1557C>A (p.His519Gln) c.1362C>A (p.His454Gln) | |
15 | g.50242561T>A | CA7554515 | HDC | c.1688A>T (p.His563Leu) c.1589A>T (p.His530Leu) n.1432A>T c.1451A>T (p.His484Leu) c.1256A>T (p.His419Leu) c.1793A>T (p.His598Leu) c.1694A>T (p.His565Leu) c.1565A>T (p.His522Leu) c.1556A>T (p.His519Leu) c.1361A>T (p.His454Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50242561T>C | CA392377283 | HDC | c.1688A>G (p.His563Arg) c.1589A>G (p.His530Arg) n.1432A>G c.1451A>G (p.His484Arg) c.1256A>G (p.His419Arg) c.1793A>G (p.His598Arg) c.1694A>G (p.His565Arg) c.1565A>G (p.His522Arg) c.1556A>G (p.His519Arg) c.1361A>G (p.His454Arg) | gnomAD v4 |
15 | g.50242561T>G | CA392377284 | HDC | c.1688A>C (p.His563Pro) c.1589A>C (p.His530Pro) n.1432A>C c.1451A>C (p.His484Pro) c.1256A>C (p.His419Pro) c.1793A>C (p.His598Pro) c.1694A>C (p.His565Pro) c.1565A>C (p.His522Pro) c.1556A>C (p.His519Pro) c.1361A>C (p.His454Pro) | |
15 | g.50242561T= | CA2176326642 | HDC | c.1688A= (p.His563=) c.1589A= (p.His530=) n.1432A= c.1451A= (p.His484=) c.1256A= (p.His419=) c.1793A= (p.His598=) c.1694A= (p.His565=) c.1565A= (p.His522=) c.1556A= (p.His519=) c.1361A= (p.His454=) | |
15 | g.50242562G>A | CA392377285 | HDC | c.1687C>T (p.His563Tyr) c.1588C>T (p.His530Tyr) n.1431C>T c.1450C>T (p.His484Tyr) c.1255C>T (p.His419Tyr) c.1792C>T (p.His598Tyr) c.1693C>T (p.His565Tyr) c.1564C>T (p.His522Tyr) c.1555C>T (p.His519Tyr) c.1360C>T (p.His454Tyr) | |
15 | g.50242562G>C | CA392377286 | HDC | c.1687C>G (p.His563Asp) c.1588C>G (p.His530Asp) n.1431C>G c.1450C>G (p.His484Asp) c.1255C>G (p.His419Asp) c.1792C>G (p.His598Asp) c.1693C>G (p.His565Asp) c.1564C>G (p.His522Asp) c.1555C>G (p.His519Asp) c.1360C>G (p.His454Asp) | |
15 | g.50242562G= | CA2176326643 | HDC | c.1687C= (p.His563=) c.1588C= (p.His530=) n.1431C= c.1450C= (p.His484=) c.1255C= (p.His419=) c.1792C= (p.His598=) c.1693C= (p.His565=) c.1564C= (p.His522=) c.1555C= (p.His519=) c.1360C= (p.His454=) | |
15 | g.50242562G>T | CA392377287 | HDC | c.1687C>A (p.His563Asn) c.1588C>A (p.His530Asn) n.1431C>A c.1450C>A (p.His484Asn) c.1255C>A (p.His419Asn) c.1792C>A (p.His598Asn) c.1693C>A (p.His565Asn) c.1564C>A (p.His522Asn) c.1555C>A (p.His519Asn) c.1360C>A (p.His454Asn) | dbSNP |
15 | g.50242563del | CA2730790619 | HDC | c.1686del (p.Lys562AsnfsTer?) c.1587del (p.Lys529AsnfsTer?) n.1430del c.1449del (p.Lys483AsnfsTer?) c.1254del (p.Lys418AsnfsTer?) c.1791del (p.Lys597AsnfsTer?) c.1692del (p.Lys564AsnfsTer?) c.1563del (p.Lys521AsnfsTer?) c.1554del (p.Lys518AsnfsTer?) c.1359del (p.Lys453AsnfsTer?) | dbSNP |
15 | g.50242563C>A | CA392377288 | HDC | c.1686G>T (p.Lys562Asn) c.1587G>T (p.Lys529Asn) n.1430G>T c.1449G>T (p.Lys483Asn) c.1254G>T (p.Lys418Asn) c.1791G>T (p.Lys597Asn) c.1692G>T (p.Lys564Asn) c.1563G>T (p.Lys521Asn) c.1554G>T (p.Lys518Asn) c.1359G>T (p.Lys453Asn) | |
15 | g.50242563C>G | CA392377289 | HDC | c.1686G>C (p.Lys562Asn) c.1587G>C (p.Lys529Asn) n.1430G>C c.1449G>C (p.Lys483Asn) c.1254G>C (p.Lys418Asn) c.1791G>C (p.Lys597Asn) c.1692G>C (p.Lys564Asn) c.1563G>C (p.Lys521Asn) c.1554G>C (p.Lys518Asn) c.1359G>C (p.Lys453Asn) | |
15 | g.50242563C>T | CA490314233 | HDC | c.1686G>A (p.Lys562=) c.1587G>A (p.Lys529=) n.1430G>A c.1449G>A (p.Lys483=) c.1254G>A (p.Lys418=) c.1791G>A (p.Lys597=) c.1692G>A (p.Lys564=) c.1563G>A (p.Lys521=) c.1554G>A (p.Lys518=) c.1359G>A (p.Lys453=) | |
15 | g.50242564T>A | CA392377291 | HDC | c.1685A>T (p.Lys562Met) c.1586A>T (p.Lys529Met) n.1429A>T c.1448A>T (p.Lys483Met) c.1253A>T (p.Lys418Met) c.1790A>T (p.Lys597Met) c.1691A>T (p.Lys564Met) c.1562A>T (p.Lys521Met) c.1553A>T (p.Lys518Met) c.1358A>T (p.Lys453Met) | |
15 | g.50242564T>C | CA392377290 | HDC | c.1685A>G (p.Lys562Arg) c.1586A>G (p.Lys529Arg) n.1429A>G c.1448A>G (p.Lys483Arg) c.1253A>G (p.Lys418Arg) c.1790A>G (p.Lys597Arg) c.1691A>G (p.Lys564Arg) c.1562A>G (p.Lys521Arg) c.1553A>G (p.Lys518Arg) c.1358A>G (p.Lys453Arg) | |
15 | g.50242564T>G | CA270414018 | HDC | c.1685A>C (p.Lys562Thr) c.1586A>C (p.Lys529Thr) n.1429A>C c.1448A>C (p.Lys483Thr) c.1253A>C (p.Lys418Thr) c.1790A>C (p.Lys597Thr) c.1691A>C (p.Lys564Thr) c.1562A>C (p.Lys521Thr) c.1553A>C (p.Lys518Thr) c.1358A>C (p.Lys453Thr) | dbSNP |
15 | g.50242564T= | CA2176326644 | HDC | c.1685A= (p.Lys562=) c.1586A= (p.Lys529=) n.1429A= c.1448A= (p.Lys483=) c.1253A= (p.Lys418=) c.1790A= (p.Lys597=) c.1691A= (p.Lys564=) c.1562A= (p.Lys521=) c.1553A= (p.Lys518=) c.1358A= (p.Lys453=) | |
15 | g.50242565T>A | CA392377292 | HDC | c.1684A>T (p.Lys562Ter) c.1585A>T (p.Lys529Ter) n.1428A>T c.1447A>T (p.Lys483Ter) c.1252A>T (p.Lys418Ter) c.1789A>T (p.Lys597Ter) c.1690A>T (p.Lys564Ter) c.1561A>T (p.Lys521Ter) c.1552A>T (p.Lys518Ter) c.1357A>T (p.Lys453Ter) | |
15 | g.50242565T>C | CA392377293 | HDC | c.1684A>G (p.Lys562Glu) c.1585A>G (p.Lys529Glu) n.1428A>G c.1447A>G (p.Lys483Glu) c.1252A>G (p.Lys418Glu) c.1789A>G (p.Lys597Glu) c.1690A>G (p.Lys564Glu) c.1561A>G (p.Lys521Glu) c.1552A>G (p.Lys518Glu) c.1357A>G (p.Lys453Glu) | |
15 | g.50242565T>G | CA392377294 | HDC | c.1684A>C (p.Lys562Gln) c.1585A>C (p.Lys529Gln) n.1428A>C c.1447A>C (p.Lys483Gln) c.1252A>C (p.Lys418Gln) c.1789A>C (p.Lys597Gln) c.1690A>C (p.Lys564Gln) c.1561A>C (p.Lys521Gln) c.1552A>C (p.Lys518Gln) c.1357A>C (p.Lys453Gln) | |
15 | g.50242566G>A | CA7554516 | HDC | c.1683C>T (p.Thr561=) c.1584C>T (p.Thr528=) n.1427C>T c.1446C>T (p.Thr482=) c.1251C>T (p.Thr417=) c.1788C>T (p.Thr596=) c.1689C>T (p.Thr563=) c.1560C>T (p.Thr520=) c.1551C>T (p.Thr517=) c.1356C>T (p.Thr452=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242566G>C | CA7554517 | HDC | c.1683C>G (p.Thr561=) c.1584C>G (p.Thr528=) n.1427C>G c.1446C>G (p.Thr482=) c.1251C>G (p.Thr417=) c.1788C>G (p.Thr596=) c.1689C>G (p.Thr563=) c.1560C>G (p.Thr520=) c.1551C>G (p.Thr517=) c.1356C>G (p.Thr452=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50242566G= | CA2176326645 | HDC | c.1683C= (p.Thr561=) c.1584C= (p.Thr528=) n.1427C= c.1446C= (p.Thr482=) c.1251C= (p.Thr417=) c.1788C= (p.Thr596=) c.1689C= (p.Thr563=) c.1560C= (p.Thr520=) c.1551C= (p.Thr517=) c.1356C= (p.Thr452=) | |
15 | g.50242566G>T | CA490314234 | HDC | c.1683C>A (p.Thr561=) c.1584C>A (p.Thr528=) n.1427C>A c.1446C>A (p.Thr482=) c.1251C>A (p.Thr417=) c.1788C>A (p.Thr596=) c.1689C>A (p.Thr563=) c.1560C>A (p.Thr520=) c.1551C>A (p.Thr517=) c.1356C>A (p.Thr452=) | |
15 | g.50242567G>A | CA7554518 | HDC | c.1682C>T (p.Thr561Ile) c.1583C>T (p.Thr528Ile) n.1426C>T c.1445C>T (p.Thr482Ile) c.1250C>T (p.Thr417Ile) c.1787C>T (p.Thr596Ile) c.1688C>T (p.Thr563Ile) c.1559C>T (p.Thr520Ile) c.1550C>T (p.Thr517Ile) c.1355C>T (p.Thr452Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
15 | g.50242567G>C | CA392377295 | HDC | c.1682C>G (p.Thr561Ser) c.1583C>G (p.Thr528Ser) n.1426C>G c.1445C>G (p.Thr482Ser) c.1250C>G (p.Thr417Ser) c.1787C>G (p.Thr596Ser) c.1688C>G (p.Thr563Ser) c.1559C>G (p.Thr520Ser) c.1550C>G (p.Thr517Ser) c.1355C>G (p.Thr452Ser) | |
15 | g.50242567G= | CA2176326646 | HDC | c.1682C= (p.Thr561=) c.1583C= (p.Thr528=) n.1426C= c.1445C= (p.Thr482=) c.1250C= (p.Thr417=) c.1787C= (p.Thr596=) c.1688C= (p.Thr563=) c.1559C= (p.Thr520=) c.1550C= (p.Thr517=) c.1355C= (p.Thr452=) | |
15 | g.50242567G>T | CA392377296 | HDC | c.1682C>A (p.Thr561Asn) c.1583C>A (p.Thr528Asn) n.1426C>A c.1445C>A (p.Thr482Asn) c.1250C>A (p.Thr417Asn) c.1787C>A (p.Thr596Asn) c.1688C>A (p.Thr563Asn) c.1559C>A (p.Thr520Asn) c.1550C>A (p.Thr517Asn) c.1355C>A (p.Thr452Asn) | |
15 | g.50242568T>A | CA392377297 | HDC | c.1681A>T (p.Thr561Ser) c.1582A>T (p.Thr528Ser) n.1425A>T c.1444A>T (p.Thr482Ser) c.1249A>T (p.Thr417Ser) c.1786A>T (p.Thr596Ser) c.1687A>T (p.Thr563Ser) c.1558A>T (p.Thr520Ser) c.1549A>T (p.Thr517Ser) c.1354A>T (p.Thr452Ser) | |
15 | g.50242568T>C | CA392377298 | HDC | c.1681A>G (p.Thr561Ala) c.1582A>G (p.Thr528Ala) n.1425A>G c.1444A>G (p.Thr482Ala) c.1249A>G (p.Thr417Ala) c.1786A>G (p.Thr596Ala) c.1687A>G (p.Thr563Ala) c.1558A>G (p.Thr520Ala) c.1549A>G (p.Thr517Ala) c.1354A>G (p.Thr452Ala) | |
15 | g.50242568T>G | CA392377299 | HDC | c.1681A>C (p.Thr561Pro) c.1582A>C (p.Thr528Pro) n.1425A>C c.1444A>C (p.Thr482Pro) c.1249A>C (p.Thr417Pro) c.1786A>C (p.Thr596Pro) c.1687A>C (p.Thr563Pro) c.1558A>C (p.Thr520Pro) c.1549A>C (p.Thr517Pro) c.1354A>C (p.Thr452Pro) |