Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36219867_36219879delinsAAGGCCATTCCAG | CA1846328470 | CLTA,GNE | c.1868_1880delinsCTGGAATGGCCTT (p.Ser623=) c.1598_1610delinsCTGGAATGGCCTT (p.Ser533=) c.1775_1787delinsCTGGAATGGCCTT (p.Ser592=) c.1553_1565delinsCTGGAATGGCCTT (p.Ser518=) c.485+15688_485+15700delinsAAGGCCATTCCAG (n.485+15688_485+15700delinsAAGGCCATTCCAG) c.1445_1457delinsCTGGAATGGCCTT (p.Ser482=) c.1760_1772delinsCTGGAATGGCCTT (p.Ser587=) c.1715_1727delinsCTGGAATGGCCTT (p.Ser572=) c.1622_1634delinsCTGGAATGGCCTT (p.Ser541=) | |
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.36219872_36219873delinsCA | CA1846328489 | CLTA,GNE | c.1874_1875delinsTG (p.Met625=) c.1604_1605delinsTG (p.Met535=) c.1781_1782delinsTG (p.Met594=) c.1559_1560delinsTG (p.Met520=) c.485+15693_485+15694delinsCA (n.485+15693_485+15694delinsCA) c.1451_1452delinsTG (p.Met484=) c.1766_1767delinsTG (p.Met589=) c.1721_1722delinsTG (p.Met574=) c.1628_1629delinsTG (p.Met543=) | |
9 | g.36219873del | CA16041309 | CLTA,GNE | c.1874del (p.Met625ArgfsTer?) c.1604del (p.Met535ArgfsTer?) c.1781del (p.Met594ArgfsTer?) c.1559del (p.Met520ArgfsTer?) c.485+15694del (n.485+15694del) c.1451del (p.Met484ArgfsTer?) c.1766del (p.Met589ArgfsTer?) c.1721del (p.Met574ArgfsTer?) c.1628del (p.Met543ArgfsTer?) | ClinVar dbSNP |
9 | g.36219873A= | CA1846328501 | CLTA,GNE | c.1874T= (p.Met625=) c.1604T= (p.Met535=) c.1781T= (p.Met594=) c.1559T= (p.Met520=) c.485+15694A= (n.485+15694A=) c.1451T= (p.Met484=) c.1766T= (p.Met589=) c.1721T= (p.Met574=) c.1628T= (p.Met543=) | |
9 | g.36219873A>C | CA373425541 | CLTA,GNE | c.1874T>G (p.Met625Arg) c.1604T>G (p.Met535Arg) c.1781T>G (p.Met594Arg) c.1559T>G (p.Met520Arg) c.485+15694A>C (n.485+15694A>C) c.1451T>G (p.Met484Arg) c.1766T>G (p.Met589Arg) c.1721T>G (p.Met574Arg) c.1628T>G (p.Met543Arg) | |
9 | g.36219873A>G | CA373425542 | CLTA,GNE | c.1874T>C (p.Met625Thr) c.1604T>C (p.Met535Thr) c.1781T>C (p.Met594Thr) c.1559T>C (p.Met520Thr) c.485+15694A>G (n.485+15694A>G) c.1451T>C (p.Met484Thr) c.1766T>C (p.Met589Thr) c.1721T>C (p.Met574Thr) c.1628T>C (p.Met543Thr) | dbSNP gnomAD v2 |
9 | g.36219873A>T | CA373425543 | CLTA,GNE | c.1874T>A (p.Met625Lys) c.1604T>A (p.Met535Lys) c.1781T>A (p.Met594Lys) c.1559T>A (p.Met520Lys) c.485+15694A>T (n.485+15694A>T) c.1451T>A (p.Met484Lys) c.1766T>A (p.Met589Lys) c.1721T>A (p.Met574Lys) c.1628T>A (p.Met543Lys) | |
9 | g.36219874T>A | CA373425544 | CLTA,GNE | c.1873A>T (p.Met625Leu) c.1603A>T (p.Met535Leu) c.1780A>T (p.Met594Leu) c.1558A>T (p.Met520Leu) c.485+15695T>A (n.485+15695T>A) c.1450A>T (p.Met484Leu) c.1765A>T (p.Met589Leu) c.1720A>T (p.Met574Leu) c.1627A>T (p.Met543Leu) | |
9 | g.36219874T>C | CA373425545 | CLTA,GNE | c.1873A>G (p.Met625Val) c.1603A>G (p.Met535Val) c.1780A>G (p.Met594Val) c.1558A>G (p.Met520Val) c.485+15695T>C (n.485+15695T>C) c.1450A>G (p.Met484Val) c.1765A>G (p.Met589Val) c.1720A>G (p.Met574Val) c.1627A>G (p.Met543Val) | |
9 | g.36219874T>G | CA373425546 | CLTA,GNE | c.1873A>C (p.Met625Leu) c.1603A>C (p.Met535Leu) c.1780A>C (p.Met594Leu) c.1558A>C (p.Met520Leu) c.485+15695T>G (n.485+15695T>G) c.1450A>C (p.Met484Leu) c.1765A>C (p.Met589Leu) c.1720A>C (p.Met574Leu) c.1627A>C (p.Met543Leu) | |
9 | g.36219875T>A | CA464494945 | CLTA,GNE | c.1872A>T (p.Gly624=) c.1602A>T (p.Gly534=) c.1779A>T (p.Gly593=) c.1557A>T (p.Gly519=) c.485+15696T>A (n.485+15696T>A) c.1449A>T (p.Gly483=) c.1764A>T (p.Gly588=) c.1719A>T (p.Gly573=) c.1626A>T (p.Gly542=) | |
9 | g.36219875T>C | CA5056428 | CLTA,GNE | c.1872A>G (p.Gly624=) c.1602A>G (p.Gly534=) c.1779A>G (p.Gly593=) c.1557A>G (p.Gly519=) c.485+15696T>C (n.485+15696T>C) c.1449A>G (p.Gly483=) c.1764A>G (p.Gly588=) c.1719A>G (p.Gly573=) c.1626A>G (p.Gly542=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219875T>G | CA464494946 | CLTA,GNE | c.1872A>C (p.Gly624=) c.1602A>C (p.Gly534=) c.1779A>C (p.Gly593=) c.1557A>C (p.Gly519=) c.485+15696T>G (n.485+15696T>G) c.1449A>C (p.Gly483=) c.1764A>C (p.Gly588=) c.1719A>C (p.Gly573=) c.1626A>C (p.Gly542=) | |
9 | g.36219875T= | CA1846328510 | CLTA,GNE | c.1872A= (p.Gly624=) c.1602A= (p.Gly534=) c.1779A= (p.Gly593=) c.1557A= (p.Gly519=) c.485+15696T= (n.485+15696T=) c.1449A= (p.Gly483=) c.1764A= (p.Gly588=) c.1719A= (p.Gly573=) c.1626A= (p.Gly542=) | |
9 | g.36219876C>A | CA373425549 | CLTA,GNE | c.1871G>T (p.Gly624Val) c.1601G>T (p.Gly534Val) c.1778G>T (p.Gly593Val) c.1556G>T (p.Gly519Val) c.485+15697C>A (n.485+15697C>A) c.1448G>T (p.Gly483Val) c.1763G>T (p.Gly588Val) c.1718G>T (p.Gly573Val) c.1625G>T (p.Gly542Val) | |
9 | g.36219876C>G | CA373425548 | CLTA,GNE | c.1871G>C (p.Gly624Ala) c.1601G>C (p.Gly534Ala) c.1778G>C (p.Gly593Ala) c.1556G>C (p.Gly519Ala) c.485+15697C>G (n.485+15697C>G) c.1448G>C (p.Gly483Ala) c.1763G>C (p.Gly588Ala) c.1718G>C (p.Gly573Ala) c.1625G>C (p.Gly542Ala) | |
9 | g.36219876C>T | CA373425547 | CLTA,GNE | c.1871G>A (p.Gly624Glu) c.1601G>A (p.Gly534Glu) c.1778G>A (p.Gly593Glu) c.1556G>A (p.Gly519Glu) c.485+15697C>T (n.485+15697C>T) c.1448G>A (p.Gly483Glu) c.1763G>A (p.Gly588Glu) c.1718G>A (p.Gly573Glu) c.1625G>A (p.Gly542Glu) | |
9 | g.36219877C>A | CA373425550 | CLTA,GNE | c.1870G>T (p.Gly624Ter) c.1600G>T (p.Gly534Ter) c.1777G>T (p.Gly593Ter) c.1555G>T (p.Gly519Ter) c.485+15698C>A (n.485+15698C>A) c.1447G>T (p.Gly483Ter) c.1762G>T (p.Gly588Ter) c.1717G>T (p.Gly573Ter) c.1624G>T (p.Gly542Ter) | |
9 | g.36219877C>G | CA373425551 | CLTA,GNE | c.1870G>C (p.Gly624Arg) c.1600G>C (p.Gly534Arg) c.1777G>C (p.Gly593Arg) c.1555G>C (p.Gly519Arg) c.485+15698C>G (n.485+15698C>G) c.1447G>C (p.Gly483Arg) c.1762G>C (p.Gly588Arg) c.1717G>C (p.Gly573Arg) c.1624G>C (p.Gly542Arg) | |
9 | g.36219877C>T | CA373425552 | CLTA,GNE | c.1870G>A (p.Gly624Arg) c.1600G>A (p.Gly534Arg) c.1777G>A (p.Gly593Arg) c.1555G>A (p.Gly519Arg) c.485+15698C>T (n.485+15698C>T) c.1447G>A (p.Gly483Arg) c.1762G>A (p.Gly588Arg) c.1717G>A (p.Gly573Arg) c.1624G>A (p.Gly542Arg) | |
9 | g.36219878A>C | CA464494947 | CLTA,GNE | c.1869T>G (p.Ser623=) c.1599T>G (p.Ser533=) c.1776T>G (p.Ser592=) c.1554T>G (p.Ser518=) c.485+15699A>C (n.485+15699A>C) c.1446T>G (p.Ser482=) c.1761T>G (p.Ser587=) c.1716T>G (p.Ser572=) c.1623T>G (p.Ser541=) | |
9 | g.36219878A>G | CA464494948 | CLTA,GNE | c.1869T>C (p.Ser623=) c.1599T>C (p.Ser533=) c.1776T>C (p.Ser592=) c.1554T>C (p.Ser518=) c.485+15699A>G (n.485+15699A>G) c.1446T>C (p.Ser482=) c.1761T>C (p.Ser587=) c.1716T>C (p.Ser572=) c.1623T>C (p.Ser541=) | |
9 | g.36219878A>T | CA464494949 | CLTA,GNE | c.1869T>A (p.Ser623=) c.1599T>A (p.Ser533=) c.1776T>A (p.Ser592=) c.1554T>A (p.Ser518=) c.485+15699A>T (n.485+15699A>T) c.1446T>A (p.Ser482=) c.1761T>A (p.Ser587=) c.1716T>A (p.Ser572=) c.1623T>A (p.Ser541=) | |
9 | g.36219879G>A | CA373425553 | CLTA,GNE | c.1868C>T (p.Ser623Phe) c.1598C>T (p.Ser533Phe) c.1775C>T (p.Ser592Phe) c.1553C>T (p.Ser518Phe) c.485+15700G>A (n.485+15700G>A) c.1445C>T (p.Ser482Phe) c.1760C>T (p.Ser587Phe) c.1715C>T (p.Ser572Phe) c.1622C>T (p.Ser541Phe) | |
9 | g.36219879G>C | CA373425554 | CLTA,GNE | c.1868C>G (p.Ser623Cys) c.1598C>G (p.Ser533Cys) c.1775C>G (p.Ser592Cys) c.1553C>G (p.Ser518Cys) c.485+15700G>C (n.485+15700G>C) c.1445C>G (p.Ser482Cys) c.1760C>G (p.Ser587Cys) c.1715C>G (p.Ser572Cys) c.1622C>G (p.Ser541Cys) | |
9 | g.36219879G>T | CA373425555 | CLTA,GNE | c.1868C>A (p.Ser623Tyr) c.1598C>A (p.Ser533Tyr) c.1775C>A (p.Ser592Tyr) c.1553C>A (p.Ser518Tyr) c.485+15700G>T (n.485+15700G>T) c.1445C>A (p.Ser482Tyr) c.1760C>A (p.Ser587Tyr) c.1715C>A (p.Ser572Tyr) c.1622C>A (p.Ser541Tyr) | gnomAD v4 |
9 | g.36219880A>C | CA373425556 | CLTA,GNE | c.1867T>G (p.Ser623Ala) c.1597T>G (p.Ser533Ala) c.1774T>G (p.Ser592Ala) c.1552T>G (p.Ser518Ala) c.485+15701A>C (n.485+15701A>C) c.1444T>G (p.Ser482Ala) c.1759T>G (p.Ser587Ala) c.1714T>G (p.Ser572Ala) c.1621T>G (p.Ser541Ala) | |
9 | g.36219880A>G | CA373425557 | CLTA,GNE | c.1867T>C (p.Ser623Pro) c.1597T>C (p.Ser533Pro) c.1774T>C (p.Ser592Pro) c.1552T>C (p.Ser518Pro) c.485+15701A>G (n.485+15701A>G) c.1444T>C (p.Ser482Pro) c.1759T>C (p.Ser587Pro) c.1714T>C (p.Ser572Pro) c.1621T>C (p.Ser541Pro) | |
9 | g.36219880A>T | CA373425558 | CLTA,GNE | c.1867T>A (p.Ser623Thr) c.1597T>A (p.Ser533Thr) c.1774T>A (p.Ser592Thr) c.1552T>A (p.Ser518Thr) c.485+15701A>T (n.485+15701A>T) c.1444T>A (p.Ser482Thr) c.1759T>A (p.Ser587Thr) c.1714T>A (p.Ser572Thr) c.1621T>A (p.Ser541Thr) | COSMIC COSMIC COSMIC |
9 | g.36219881G>A | CA464494950 | CLTA,GNE | c.1866C>T (p.Ala622=) c.1596C>T (p.Ala532=) c.1773C>T (p.Ala591=) c.1551C>T (p.Ala517=) c.485+15702G>A (n.485+15702G>A) c.1443C>T (p.Ala481=) c.1758C>T (p.Ala586=) c.1713C>T (p.Ala571=) c.1620C>T (p.Ala540=) | dbSNP gnomAD v4 |
9 | g.36219881G>C | CA464494951 | CLTA,GNE | c.1866C>G (p.Ala622=) c.1596C>G (p.Ala532=) c.1773C>G (p.Ala591=) c.1551C>G (p.Ala517=) c.485+15702G>C (n.485+15702G>C) c.1443C>G (p.Ala481=) c.1758C>G (p.Ala586=) c.1713C>G (p.Ala571=) c.1620C>G (p.Ala540=) | |
9 | g.36219881G= | CA1846328516 | CLTA,GNE | c.1866C= (p.Ala622=) c.1596C= (p.Ala532=) c.1773C= (p.Ala591=) c.1551C= (p.Ala517=) c.485+15702G= (n.485+15702G=) c.1443C= (p.Ala481=) c.1758C= (p.Ala586=) c.1713C= (p.Ala571=) c.1620C= (p.Ala540=) | |
9 | g.36219881G>T | CA464494952 | CLTA,GNE | c.1866C>A (p.Ala622=) c.1596C>A (p.Ala532=) c.1773C>A (p.Ala591=) c.1551C>A (p.Ala517=) c.485+15702G>T (n.485+15702G>T) c.1443C>A (p.Ala481=) c.1758C>A (p.Ala586=) c.1713C>A (p.Ala571=) c.1620C>A (p.Ala540=) | |
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 |