Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36219872_36219883del | CA1139660951 | CLTA,GNE | c.1868_1879del (p.Ser623_Ala626del) c.1598_1609del (p.Ser533_Ala536del) c.1775_1786del (p.Ser592_Ala595del) c.1553_1564del (p.Ser518_Ala521del) c.485+15693_485+15704del (n.485+15693_485+15704del) c.1445_1456del (p.Ser482_Ala485del) c.1760_1771del (p.Ser587_Ala590del) c.1715_1726del (p.Ser572_Ala575del) c.1622_1633del (p.Ser541_Ala544del) | ClinVar dbSNP |
9 | g.36219882G>A | CA373425559 | CLTA,GNE | c.1865C>T (p.Ala622Val) c.1595C>T (p.Ala532Val) c.1772C>T (p.Ala591Val) c.1550C>T (p.Ala517Val) c.485+15703G>A (n.485+15703G>A) c.1442C>T (p.Ala481Val) c.1757C>T (p.Ala586Val) c.1712C>T (p.Ala571Val) c.1619C>T (p.Ala540Val) | ClinVar |
9 | g.36219882G>C | CA373425560 | CLTA,GNE | c.1865C>G (p.Ala622Gly) c.1595C>G (p.Ala532Gly) c.1772C>G (p.Ala591Gly) c.1550C>G (p.Ala517Gly) c.485+15703G>C (n.485+15703G>C) c.1442C>G (p.Ala481Gly) c.1757C>G (p.Ala586Gly) c.1712C>G (p.Ala571Gly) c.1619C>G (p.Ala540Gly) | |
9 | g.36219882G>T | CA373425561 | CLTA,GNE | c.1865C>A (p.Ala622Asp) c.1595C>A (p.Ala532Asp) c.1772C>A (p.Ala591Asp) c.1550C>A (p.Ala517Asp) c.485+15703G>T (n.485+15703G>T) c.1442C>A (p.Ala481Asp) c.1757C>A (p.Ala586Asp) c.1712C>A (p.Ala571Asp) c.1619C>A (p.Ala540Asp) | |
9 | g.36219883C>A | CA373425563 | CLTA,GNE | c.1864G>T (p.Ala622Ser) c.1594G>T (p.Ala532Ser) c.1771G>T (p.Ala591Ser) c.1549G>T (p.Ala517Ser) c.485+15704C>A (n.485+15704C>A) c.1441G>T (p.Ala481Ser) c.1756G>T (p.Ala586Ser) c.1711G>T (p.Ala571Ser) c.1618G>T (p.Ala540Ser) | |
9 | g.36219883C= | CA1846328525 | CLTA,GNE | c.1864G= (p.Ala622=) c.1594G= (p.Ala532=) c.1771G= (p.Ala591=) c.1549G= (p.Ala517=) c.485+15704C= (n.485+15704C=) c.1441G= (p.Ala481=) c.1756G= (p.Ala586=) c.1711G= (p.Ala571=) c.1618G= (p.Ala540=) | |
9 | g.36219883C>G | CA373425562 | CLTA,GNE | c.1864G>C (p.Ala622Pro) c.1594G>C (p.Ala532Pro) c.1771G>C (p.Ala591Pro) c.1549G>C (p.Ala517Pro) c.485+15704C>G (n.485+15704C>G) c.1441G>C (p.Ala481Pro) c.1756G>C (p.Ala586Pro) c.1711G>C (p.Ala571Pro) c.1618G>C (p.Ala540Pro) | |
9 | g.36219883C>T | CA5056429 | CLTA,GNE | c.1864G>A (p.Ala622Thr) c.1594G>A (p.Ala532Thr) c.1771G>A (p.Ala591Thr) c.1549G>A (p.Ala517Thr) c.485+15704C>T (n.485+15704C>T) c.1441G>A (p.Ala481Thr) c.1756G>A (p.Ala586Thr) c.1711G>A (p.Ala571Thr) c.1618G>A (p.Ala540Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36219884G>A | CA148383 | CLTA,GNE | c.1863C>T (p.Tyr621=) c.1593C>T (p.Tyr531=) c.1770C>T (p.Tyr590=) c.1548C>T (p.Tyr516=) c.485+15705G>A (n.485+15705G>A) c.1440C>T (p.Tyr480=) c.1755C>T (p.Tyr585=) c.1710C>T (p.Tyr570=) c.1617C>T (p.Tyr539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219884G>C | CA373425564 | CLTA,GNE | c.1863C>G (p.Tyr621Ter) c.1593C>G (p.Tyr531Ter) c.1770C>G (p.Tyr590Ter) c.1548C>G (p.Tyr516Ter) c.485+15705G>C (n.485+15705G>C) c.1440C>G (p.Tyr480Ter) c.1755C>G (p.Tyr585Ter) c.1710C>G (p.Tyr570Ter) c.1617C>G (p.Tyr539Ter) | |
9 | g.36219884G= | CA1846328550 | CLTA,GNE | c.1863C= (p.Tyr621=) c.1593C= (p.Tyr531=) c.1770C= (p.Tyr590=) c.1548C= (p.Tyr516=) c.485+15705G= (n.485+15705G=) c.1440C= (p.Tyr480=) c.1755C= (p.Tyr585=) c.1710C= (p.Tyr570=) c.1617C= (p.Tyr539=) | |
9 | g.36219884G>T | CA373425565 | CLTA,GNE | c.1863C>A (p.Tyr621Ter) c.1593C>A (p.Tyr531Ter) c.1770C>A (p.Tyr590Ter) c.1548C>A (p.Tyr516Ter) c.485+15705G>T (n.485+15705G>T) c.1440C>A (p.Tyr480Ter) c.1755C>A (p.Tyr585Ter) c.1710C>A (p.Tyr570Ter) c.1617C>A (p.Tyr539Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.36219885T>A | CA373425566 | CLTA,GNE | c.1862A>T (p.Tyr621Phe) c.1592A>T (p.Tyr531Phe) c.1769A>T (p.Tyr590Phe) c.1547A>T (p.Tyr516Phe) c.485+15706T>A (n.485+15706T>A) c.1439A>T (p.Tyr480Phe) c.1754A>T (p.Tyr585Phe) c.1709A>T (p.Tyr570Phe) c.1616A>T (p.Tyr539Phe) | |
9 | g.36219885T>C | CA373425567 | CLTA,GNE | c.1862A>G (p.Tyr621Cys) c.1592A>G (p.Tyr531Cys) c.1769A>G (p.Tyr590Cys) c.1547A>G (p.Tyr516Cys) c.485+15706T>C (n.485+15706T>C) c.1439A>G (p.Tyr480Cys) c.1754A>G (p.Tyr585Cys) c.1709A>G (p.Tyr570Cys) c.1616A>G (p.Tyr539Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36219885T>G | CA373425568 | CLTA,GNE | c.1862A>C (p.Tyr621Ser) c.1592A>C (p.Tyr531Ser) c.1769A>C (p.Tyr590Ser) c.1547A>C (p.Tyr516Ser) c.485+15706T>G (n.485+15706T>G) c.1439A>C (p.Tyr480Ser) c.1754A>C (p.Tyr585Ser) c.1709A>C (p.Tyr570Ser) c.1616A>C (p.Tyr539Ser) | |
9 | g.36219885T= | CA1846328563 | CLTA,GNE | c.1862A= (p.Tyr621=) c.1592A= (p.Tyr531=) c.1769A= (p.Tyr590=) c.1547A= (p.Tyr516=) c.485+15706T= (n.485+15706T=) c.1439A= (p.Tyr480=) c.1754A= (p.Tyr585=) c.1709A= (p.Tyr570=) c.1616A= (p.Tyr539=) | |
9 | g.36219886A>C | CA373425569 | CLTA,GNE | c.1861T>G (p.Tyr621Asp) c.1591T>G (p.Tyr531Asp) c.1768T>G (p.Tyr590Asp) c.1546T>G (p.Tyr516Asp) c.485+15707A>C (n.485+15707A>C) c.1438T>G (p.Tyr480Asp) c.1753T>G (p.Tyr585Asp) c.1708T>G (p.Tyr570Asp) c.1615T>G (p.Tyr539Asp) | COSMIC COSMIC COSMIC |
9 | g.36219886A>G | CA373425570 | CLTA,GNE | c.1861T>C (p.Tyr621His) c.1591T>C (p.Tyr531His) c.1768T>C (p.Tyr590His) c.1546T>C (p.Tyr516His) c.485+15707A>G (n.485+15707A>G) c.1438T>C (p.Tyr480His) c.1753T>C (p.Tyr585His) c.1708T>C (p.Tyr570His) c.1615T>C (p.Tyr539His) | dbSNP |
9 | g.36219886A>T | CA373425571 | CLTA,GNE | c.1861T>A (p.Tyr621Asn) c.1591T>A (p.Tyr531Asn) c.1768T>A (p.Tyr590Asn) c.1546T>A (p.Tyr516Asn) c.485+15707A>T (n.485+15707A>T) c.1438T>A (p.Tyr480Asn) c.1753T>A (p.Tyr585Asn) c.1708T>A (p.Tyr570Asn) c.1615T>A (p.Tyr539Asn) | |
9 | g.36219887T>A | CA464494954 | CLTA,GNE | c.1860A>T (p.Ala620=) c.1590A>T (p.Ala530=) c.1767A>T (p.Ala589=) c.1545A>T (p.Ala515=) c.485+15708T>A (n.485+15708T>A) c.1437A>T (p.Ala479=) c.1752A>T (p.Ala584=) c.1707A>T (p.Ala569=) c.1614A>T (p.Ala538=) | ClinVar |
9 | g.36219887T>C | CA5056430 | CLTA,GNE | c.1860A>G (p.Ala620=) c.1590A>G (p.Ala530=) c.1767A>G (p.Ala589=) c.1545A>G (p.Ala515=) c.485+15708T>C (n.485+15708T>C) c.1437A>G (p.Ala479=) c.1752A>G (p.Ala584=) c.1707A>G (p.Ala569=) c.1614A>G (p.Ala538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219887T>G | CA464494953 | CLTA,GNE | c.1860A>C (p.Ala620=) c.1590A>C (p.Ala530=) c.1767A>C (p.Ala589=) c.1545A>C (p.Ala515=) c.485+15708T>G (n.485+15708T>G) c.1437A>C (p.Ala479=) c.1752A>C (p.Ala584=) c.1707A>C (p.Ala569=) c.1614A>C (p.Ala538=) | |
9 | g.36219887T= | CA1846328571 | CLTA,GNE | c.1860A= (p.Ala620=) c.1590A= (p.Ala530=) c.1767A= (p.Ala589=) c.1545A= (p.Ala515=) c.485+15708T= (n.485+15708T=) c.1437A= (p.Ala479=) c.1752A= (p.Ala584=) c.1707A= (p.Ala569=) c.1614A= (p.Ala538=) | |
9 | g.36219888G>A | CA373425572 | CLTA,GNE | c.1859C>T (p.Ala620Val) c.1589C>T (p.Ala530Val) c.1766C>T (p.Ala589Val) c.1544C>T (p.Ala515Val) c.485+15709G>A (n.485+15709G>A) c.1436C>T (p.Ala479Val) c.1751C>T (p.Ala584Val) c.1706C>T (p.Ala569Val) c.1613C>T (p.Ala538Val) | |
9 | g.36219888G>C | CA373425573 | CLTA,GNE | c.1859C>G (p.Ala620Gly) c.1589C>G (p.Ala530Gly) c.1766C>G (p.Ala589Gly) c.1544C>G (p.Ala515Gly) c.485+15709G>C (n.485+15709G>C) c.1436C>G (p.Ala479Gly) c.1751C>G (p.Ala584Gly) c.1706C>G (p.Ala569Gly) c.1613C>G (p.Ala538Gly) | gnomAD v4 |
9 | g.36219888G>T | CA373425574 | CLTA,GNE | c.1859C>A (p.Ala620Glu) c.1589C>A (p.Ala530Glu) c.1766C>A (p.Ala589Glu) c.1544C>A (p.Ala515Glu) c.485+15709G>T (n.485+15709G>T) c.1436C>A (p.Ala479Glu) c.1751C>A (p.Ala584Glu) c.1706C>A (p.Ala569Glu) c.1613C>A (p.Ala538Glu) | |
9 | g.36219889C>A | CA373425577 | CLTA,GNE | c.1858G>T (p.Ala620Ser) c.1588G>T (p.Ala530Ser) c.1765G>T (p.Ala589Ser) c.1543G>T (p.Ala515Ser) c.485+15710C>A (n.485+15710C>A) c.1435G>T (p.Ala479Ser) c.1750G>T (p.Ala584Ser) c.1705G>T (p.Ala569Ser) c.1612G>T (p.Ala538Ser) | |
9 | g.36219889C>G | CA373425575 | CLTA,GNE | c.1858G>C (p.Ala620Pro) c.1588G>C (p.Ala530Pro) c.1765G>C (p.Ala589Pro) c.1543G>C (p.Ala515Pro) c.485+15710C>G (n.485+15710C>G) c.1435G>C (p.Ala479Pro) c.1750G>C (p.Ala584Pro) c.1705G>C (p.Ala569Pro) c.1612G>C (p.Ala538Pro) | |
9 | g.36219889C>T | CA373425576 | CLTA,GNE | c.1858G>A (p.Ala620Thr) c.1588G>A (p.Ala530Thr) c.1765G>A (p.Ala589Thr) c.1543G>A (p.Ala515Thr) c.485+15710C>T (n.485+15710C>T) c.1435G>A (p.Ala479Thr) c.1750G>A (p.Ala584Thr) c.1705G>A (p.Ala569Thr) c.1612G>A (p.Ala538Thr) | |
9 | g.36219890T>A | CA373425578 | CLTA,GNE | c.1857A>T (p.Glu619Asp) c.1587A>T (p.Glu529Asp) c.1764A>T (p.Glu588Asp) c.1542A>T (p.Glu514Asp) c.485+15711T>A (n.485+15711T>A) c.1434A>T (p.Glu478Asp) c.1749A>T (p.Glu583Asp) c.1704A>T (p.Glu568Asp) c.1611A>T (p.Glu537Asp) | |
9 | g.36219890T>C | CA464494955 | CLTA,GNE | c.1857A>G (p.Glu619=) c.1587A>G (p.Glu529=) c.1764A>G (p.Glu588=) c.1542A>G (p.Glu514=) c.485+15711T>C (n.485+15711T>C) c.1434A>G (p.Glu478=) c.1749A>G (p.Glu583=) c.1704A>G (p.Glu568=) c.1611A>G (p.Glu537=) | |
9 | g.36219890T>G | CA373425579 | CLTA,GNE | c.1857A>C (p.Glu619Asp) c.1587A>C (p.Glu529Asp) c.1764A>C (p.Glu588Asp) c.1542A>C (p.Glu514Asp) c.485+15711T>G (n.485+15711T>G) c.1434A>C (p.Glu478Asp) c.1749A>C (p.Glu583Asp) c.1704A>C (p.Glu568Asp) c.1611A>C (p.Glu537Asp) | |
9 | g.36219891T>A | CA373425580 | CLTA,GNE | c.1856A>T (p.Glu619Val) c.1586A>T (p.Glu529Val) c.1763A>T (p.Glu588Val) c.1541A>T (p.Glu514Val) c.485+15712T>A (n.485+15712T>A) c.1433A>T (p.Glu478Val) c.1748A>T (p.Glu583Val) c.1703A>T (p.Glu568Val) c.1610A>T (p.Glu537Val) | |
9 | g.36219891T>C | CA373425581 | CLTA,GNE | c.1856A>G (p.Glu619Gly) c.1586A>G (p.Glu529Gly) c.1763A>G (p.Glu588Gly) c.1541A>G (p.Glu514Gly) c.485+15712T>C (n.485+15712T>C) c.1433A>G (p.Glu478Gly) c.1748A>G (p.Glu583Gly) c.1703A>G (p.Glu568Gly) c.1610A>G (p.Glu537Gly) | |
9 | g.36219891T>G | CA373425582 | CLTA,GNE | c.1856A>C (p.Glu619Ala) c.1586A>C (p.Glu529Ala) c.1763A>C (p.Glu588Ala) c.1541A>C (p.Glu514Ala) c.485+15712T>G (n.485+15712T>G) c.1433A>C (p.Glu478Ala) c.1748A>C (p.Glu583Ala) c.1703A>C (p.Glu568Ala) c.1610A>C (p.Glu537Ala) | |
9 | g.36219892C>A | CA373425583 | CLTA,GNE | c.1855G>T (p.Glu619Ter) c.1585G>T (p.Glu529Ter) c.1762G>T (p.Glu588Ter) c.1540G>T (p.Glu514Ter) c.485+15713C>A (n.485+15713C>A) c.1432G>T (p.Glu478Ter) c.1747G>T (p.Glu583Ter) c.1702G>T (p.Glu568Ter) c.1609G>T (p.Glu537Ter) | |
9 | g.36219892C>G | CA373425584 | CLTA,GNE | c.1855G>C (p.Glu619Gln) c.1585G>C (p.Glu529Gln) c.1762G>C (p.Glu588Gln) c.1540G>C (p.Glu514Gln) c.485+15713C>G (n.485+15713C>G) c.1432G>C (p.Glu478Gln) c.1747G>C (p.Glu583Gln) c.1702G>C (p.Glu568Gln) c.1609G>C (p.Glu537Gln) | |
9 | g.36219892C>T | CA373425585 | CLTA,GNE | c.1855G>A (p.Glu619Lys) c.1585G>A (p.Glu529Lys) c.1762G>A (p.Glu588Lys) c.1540G>A (p.Glu514Lys) c.485+15713C>T (n.485+15713C>T) c.1432G>A (p.Glu478Lys) c.1747G>A (p.Glu583Lys) c.1702G>A (p.Glu568Lys) c.1609G>A (p.Glu537Lys) | ClinVar dbSNP |
9 | g.36219893A>C | CA373425586 | CLTA,GNE | c.1854T>G (p.Ile618Met) c.1584T>G (p.Ile528Met) c.1761T>G (p.Ile587Met) c.1539T>G (p.Ile513Met) c.485+15714A>C (n.485+15714A>C) c.1431T>G (p.Ile477Met) c.1746T>G (p.Ile582Met) c.1701T>G (p.Ile567Met) c.1608T>G (p.Ile536Met) | |
9 | g.36219893A>G | CA464494957 | CLTA,GNE | c.1854T>C (p.Ile618=) c.1584T>C (p.Ile528=) c.1761T>C (p.Ile587=) c.1539T>C (p.Ile513=) c.485+15714A>G (n.485+15714A>G) c.1431T>C (p.Ile477=) c.1746T>C (p.Ile582=) c.1701T>C (p.Ile567=) c.1608T>C (p.Ile536=) | |
9 | g.36219893A>T | CA464494956 | CLTA,GNE | c.1854T>A (p.Ile618=) c.1584T>A (p.Ile528=) c.1761T>A (p.Ile587=) c.1539T>A (p.Ile513=) c.485+15714A>T (n.485+15714A>T) c.1431T>A (p.Ile477=) c.1746T>A (p.Ile582=) c.1701T>A (p.Ile567=) c.1608T>A (p.Ile536=) | |
9 | g.36219894A= | CA1846328577 | CLTA,GNE | c.1853T= (p.Ile618=) c.1583T= (p.Ile528=) c.1760T= (p.Ile587=) c.1538T= (p.Ile513=) c.485+15715A= (n.485+15715A=) c.1430T= (p.Ile477=) c.1745T= (p.Ile582=) c.1700T= (p.Ile567=) c.1607T= (p.Ile536=) | |
9 | g.36219894A>C | CA373425587 | CLTA,GNE | c.1853T>G (p.Ile618Ser) c.1583T>G (p.Ile528Ser) c.1760T>G (p.Ile587Ser) c.1538T>G (p.Ile513Ser) c.485+15715A>C (n.485+15715A>C) c.1430T>G (p.Ile477Ser) c.1745T>G (p.Ile582Ser) c.1700T>G (p.Ile567Ser) c.1607T>G (p.Ile536Ser) | |
9 | g.36219894A>G | CA274075 | CLTA,GNE | c.1853T>C (p.Ile618Thr) c.1583T>C (p.Ile528Thr) c.1760T>C (p.Ile587Thr) c.1538T>C (p.Ile513Thr) c.485+15715A>G (n.485+15715A>G) c.1430T>C (p.Ile477Thr) c.1745T>C (p.Ile582Thr) c.1700T>C (p.Ile567Thr) c.1607T>C (p.Ile536Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219894A>T | CA373425588 | CLTA,GNE | c.1853T>A (p.Ile618Asn) c.1583T>A (p.Ile528Asn) c.1760T>A (p.Ile587Asn) c.1538T>A (p.Ile513Asn) c.485+15715A>T (n.485+15715A>T) c.1430T>A (p.Ile477Asn) c.1745T>A (p.Ile582Asn) c.1700T>A (p.Ile567Asn) c.1607T>A (p.Ile536Asn) | |
9 | g.36219895T>A | CA373425590 | CLTA,GNE | c.1852A>T (p.Ile618Phe) c.1582A>T (p.Ile528Phe) c.1759A>T (p.Ile587Phe) c.1537A>T (p.Ile513Phe) c.485+15716T>A (n.485+15716T>A) c.1429A>T (p.Ile477Phe) c.1744A>T (p.Ile582Phe) c.1699A>T (p.Ile567Phe) c.1606A>T (p.Ile536Phe) | |
9 | g.36219895T>C | CA373425591 | CLTA,GNE | c.1852A>G (p.Ile618Val) c.1582A>G (p.Ile528Val) c.1759A>G (p.Ile587Val) c.1537A>G (p.Ile513Val) c.485+15716T>C (n.485+15716T>C) c.1429A>G (p.Ile477Val) c.1744A>G (p.Ile582Val) c.1699A>G (p.Ile567Val) c.1606A>G (p.Ile536Val) | ClinVar |
9 | g.36219895T>G | CA373425589 | CLTA,GNE | c.1852A>C (p.Ile618Leu) c.1582A>C (p.Ile528Leu) c.1759A>C (p.Ile587Leu) c.1537A>C (p.Ile513Leu) c.485+15716T>G (n.485+15716T>G) c.1429A>C (p.Ile477Leu) c.1744A>C (p.Ile582Leu) c.1699A>C (p.Ile567Leu) c.1606A>C (p.Ile536Leu) | |
9 | g.36219896G>A | CA464494958 | CLTA,GNE | c.1851C>T (p.Cys617=) c.1581C>T (p.Cys527=) c.1758C>T (p.Cys586=) c.1536C>T (p.Cys512=) c.485+15717G>A (n.485+15717G>A) c.1428C>T (p.Cys476=) c.1743C>T (p.Cys581=) c.1698C>T (p.Cys566=) c.1605C>T (p.Cys535=) | |
9 | g.36219896G>C | CA373425593 | CLTA,GNE | c.1851C>G (p.Cys617Trp) c.1581C>G (p.Cys527Trp) c.1758C>G (p.Cys586Trp) c.1536C>G (p.Cys512Trp) c.485+15717G>C (n.485+15717G>C) c.1428C>G (p.Cys476Trp) c.1743C>G (p.Cys581Trp) c.1698C>G (p.Cys566Trp) c.1605C>G (p.Cys535Trp) |