| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36218232_36218233insCTGCCAAGTTTCGCAGCTTGG | CA2741015576 | CLTA,GNE | c.1996_1997insGCCAAGCTGCGAAACTTGGCA (p.Gly665_Asn666insSerGlnAlaAlaLysLeuGly) c.1726_1727insGCCAAGCTGCGAAACTTGGCA (p.Gly575_Asn576insSerGlnAlaAlaLysLeuGly) c.1903_1904insGCCAAGCTGCGAAACTTGGCA (p.Gly634_Asn635insSerGlnAlaAlaLysLeuGly) c.1681_1682insGCCAAGCTGCGAAACTTGGCA (p.Gly560_Asn561insSerGlnAlaAlaLysLeuGly) c.485+14053_485+14054insCTGCCAAGTTTCGCAGCTTGG (n.485+14053_485+14054insCTGCCAAGTTTCGCAGCTTGG) c.1573_1574insGCCAAGCTGCGAAACTTGGCA (p.Gly524_Asn525insSerGlnAlaAlaLysLeuGly) c.1888_1889insGCCAAGCTGCGAAACTTGGCA (p.Gly629_Asn630insSerGlnAlaAlaLysLeuGly) c.1843_1844insGCCAAGCTGCGAAACTTGGCA (p.Gly614_Asn615insSerGlnAlaAlaLysLeuGly) c.1750_1751insGCCAAGCTGCGAAACTTGGCA (p.Gly583_Asn584insSerGlnAlaAlaLysLeuGly) | |
| 9 | g.36218217_36218225delinsAAGTTTCGC | CA1846325376 | CLTA,GNE | c.1984_1992delinsGCGAAACTT (p.Ala662=) c.1714_1722delinsGCGAAACTT (p.Ala572=) c.1891_1899delinsGCGAAACTT (p.Ala631=) c.1669_1677delinsGCGAAACTT (p.Ala557=) c.485+14038_485+14046delinsAAGTTTCGC (n.485+14038_485+14046delinsAAGTTTCGC) c.1561_1569delinsGCGAAACTT (p.Ala521=) c.1876_1884delinsGCGAAACTT (p.Ala626=) c.1831_1839delinsGCGAAACTT (p.Ala611=) c.1738_1746delinsGCGAAACTT (p.Ala580=) | |
| 9 | g.36218220_36218227del | CA863603254 | CLTA,GNE | c.1984_1991del (p.Ala662TrpfsTer?) c.1714_1721del (p.Ala572TrpfsTer?) c.1891_1898del (p.Ala631TrpfsTer?) c.1669_1676del (p.Ala557TrpfsTer?) c.485+14041_485+14048del (n.485+14041_485+14048del) c.1561_1568del (p.Ala521TrpfsTer?) c.1876_1883del (p.Ala626TrpfsTer?) c.1831_1838del (p.Ala611TrpfsTer?) c.1738_1745del (p.Ala580TrpfsTer?) | dbSNP |
| 9 | g.36218225C>A | CA373425038 | CLTA,GNE | c.1984G>T (p.Ala662Ser) c.1714G>T (p.Ala572Ser) c.1891G>T (p.Ala631Ser) c.1669G>T (p.Ala557Ser) c.485+14046C>A (n.485+14046C>A) c.1561G>T (p.Ala521Ser) c.1876G>T (p.Ala626Ser) c.1831G>T (p.Ala611Ser) c.1738G>T (p.Ala580Ser) | |
| 9 | g.36218225C= | CA1846325413 | CLTA,GNE | c.1984G= (p.Ala662=) c.1714G= (p.Ala572=) c.1891G= (p.Ala631=) c.1669G= (p.Ala557=) c.485+14046C= (n.485+14046C=) c.1561G= (p.Ala521=) c.1876G= (p.Ala626=) c.1831G= (p.Ala611=) c.1738G= (p.Ala580=) | |
| 9 | g.36218225C>G | CA373425039 | CLTA,GNE | c.1984G>C (p.Ala662Pro) c.1714G>C (p.Ala572Pro) c.1891G>C (p.Ala631Pro) c.1669G>C (p.Ala557Pro) c.485+14046C>G (n.485+14046C>G) c.1561G>C (p.Ala521Pro) c.1876G>C (p.Ala626Pro) c.1831G>C (p.Ala611Pro) c.1738G>C (p.Ala580Pro) | |
| 9 | g.36218225C>T | CA253683 | CLTA,GNE | c.1984G>A (p.Ala662Thr) c.1714G>A (p.Ala572Thr) c.1891G>A (p.Ala631Thr) c.1669G>A (p.Ala557Thr) c.485+14046C>T (n.485+14046C>T) c.1561G>A (p.Ala521Thr) c.1876G>A (p.Ala626Thr) c.1831G>A (p.Ala611Thr) c.1738G>A (p.Ala580Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36218226A>C | CA464494812 | CLTA,GNE | c.1983T>G (p.Ala661=) c.1713T>G (p.Ala571=) c.1890T>G (p.Ala630=) c.1668T>G (p.Ala556=) c.485+14047A>C (n.485+14047A>C) c.1560T>G (p.Ala520=) c.1875T>G (p.Ala625=) c.1830T>G (p.Ala610=) c.1737T>G (p.Ala579=) | |
| 9 | g.36218226A>G | CA464494813 | CLTA,GNE | c.1983T>C (p.Ala661=) c.1713T>C (p.Ala571=) c.1890T>C (p.Ala630=) c.1668T>C (p.Ala556=) c.485+14047A>G (n.485+14047A>G) c.1560T>C (p.Ala520=) c.1875T>C (p.Ala625=) c.1830T>C (p.Ala610=) c.1737T>C (p.Ala579=) | |
| 9 | g.36218226A>T | CA464494814 | CLTA,GNE | c.1983T>A (p.Ala661=) c.1713T>A (p.Ala571=) c.1890T>A (p.Ala630=) c.1668T>A (p.Ala556=) c.485+14047A>T (n.485+14047A>T) c.1560T>A (p.Ala520=) c.1875T>A (p.Ala625=) c.1830T>A (p.Ala610=) c.1737T>A (p.Ala579=) | |
| 9 | g.36218227G>A | CA373425042 | CLTA,GNE | c.1982C>T (p.Ala661Val) c.1712C>T (p.Ala571Val) c.1889C>T (p.Ala630Val) c.1667C>T (p.Ala556Val) c.485+14048G>A (n.485+14048G>A) c.1559C>T (p.Ala520Val) c.1874C>T (p.Ala625Val) c.1829C>T (p.Ala610Val) c.1736C>T (p.Ala579Val) | |
| 9 | g.36218227G>C | CA373425044 | CLTA,GNE | c.1982C>G (p.Ala661Gly) c.1712C>G (p.Ala571Gly) c.1889C>G (p.Ala630Gly) c.1667C>G (p.Ala556Gly) c.485+14048G>C (n.485+14048G>C) c.1559C>G (p.Ala520Gly) c.1874C>G (p.Ala625Gly) c.1829C>G (p.Ala610Gly) c.1736C>G (p.Ala579Gly) | |
| 9 | g.36218227G>T | CA373425045 | CLTA,GNE | c.1982C>A (p.Ala661Asp) c.1712C>A (p.Ala571Asp) c.1889C>A (p.Ala630Asp) c.1667C>A (p.Ala556Asp) c.485+14048G>T (n.485+14048G>T) c.1559C>A (p.Ala520Asp) c.1874C>A (p.Ala625Asp) c.1829C>A (p.Ala610Asp) c.1736C>A (p.Ala579Asp) | |
| 9 | g.36218228C>A | CA373425047 | CLTA,GNE | c.1981G>T (p.Ala661Ser) c.1711G>T (p.Ala571Ser) c.1888G>T (p.Ala630Ser) c.1666G>T (p.Ala556Ser) c.485+14049C>A (n.485+14049C>A) c.1558G>T (p.Ala520Ser) c.1873G>T (p.Ala625Ser) c.1828G>T (p.Ala610Ser) c.1735G>T (p.Ala579Ser) | |
| 9 | g.36218228C= | CA1846325423 | CLTA,GNE | c.1981G= (p.Ala661=) c.1711G= (p.Ala571=) c.1888G= (p.Ala630=) c.1666G= (p.Ala556=) c.485+14049C= (n.485+14049C=) c.1558G= (p.Ala520=) c.1873G= (p.Ala625=) c.1828G= (p.Ala610=) c.1735G= (p.Ala579=) | |
| 9 | g.36218228C>G | CA373425050 | CLTA,GNE | c.1981G>C (p.Ala661Pro) c.1711G>C (p.Ala571Pro) c.1888G>C (p.Ala630Pro) c.1666G>C (p.Ala556Pro) c.485+14049C>G (n.485+14049C>G) c.1558G>C (p.Ala520Pro) c.1873G>C (p.Ala625Pro) c.1828G>C (p.Ala610Pro) c.1735G>C (p.Ala579Pro) | |
| 9 | g.36218228C>T | CA373425049 | CLTA,GNE | c.1981G>A (p.Ala661Thr) c.1711G>A (p.Ala571Thr) c.1888G>A (p.Ala630Thr) c.1666G>A (p.Ala556Thr) c.485+14049C>T (n.485+14049C>T) c.1558G>A (p.Ala520Thr) c.1873G>A (p.Ala625Thr) c.1828G>A (p.Ala610Thr) c.1735G>A (p.Ala579Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36218229T>A | CA373425052 | CLTA,GNE | c.1980A>T (p.Gln660His) c.1710A>T (p.Gln570His) c.1887A>T (p.Gln629His) c.1665A>T (p.Gln555His) c.485+14050T>A (n.485+14050T>A) c.1557A>T (p.Gln519His) c.1872A>T (p.Gln624His) c.1827A>T (p.Gln609His) c.1734A>T (p.Gln578His) | |
| 9 | g.36218229T>C | CA464494815 | CLTA,GNE | c.1980A>G (p.Gln660=) c.1710A>G (p.Gln570=) c.1887A>G (p.Gln629=) c.1665A>G (p.Gln555=) c.485+14050T>C (n.485+14050T>C) c.1557A>G (p.Gln519=) c.1872A>G (p.Gln624=) c.1827A>G (p.Gln609=) c.1734A>G (p.Gln578=) | |
| 9 | g.36218229T>G | CA373425053 | CLTA,GNE | c.1980A>C (p.Gln660His) c.1710A>C (p.Gln570His) c.1887A>C (p.Gln629His) c.1665A>C (p.Gln555His) c.485+14050T>G (n.485+14050T>G) c.1557A>C (p.Gln519His) c.1872A>C (p.Gln624His) c.1827A>C (p.Gln609His) c.1734A>C (p.Gln578His) | |
| 9 | g.36218230del | CA2695206251 | CLTA,GNE | c.1980del (p.Ala661LeufsTer13) c.1710del (p.Ala571LeufsTer13) c.1887del (p.Ala630LeufsTer13) c.1665del (p.Ala556LeufsTer13) c.485+14051del (n.485+14051del) c.1557del (p.Ala520LeufsTer13) c.1872del (p.Ala625LeufsTer13) c.1827del (p.Ala610LeufsTer13) c.1734del (p.Ala579LeufsTer13) | |
| 9 | g.36218230T>A | CA373425056 | CLTA,GNE | c.1979A>T (p.Gln660Leu) c.1709A>T (p.Gln570Leu) c.1886A>T (p.Gln629Leu) c.1664A>T (p.Gln555Leu) c.485+14051T>A (n.485+14051T>A) c.1556A>T (p.Gln519Leu) c.1871A>T (p.Gln624Leu) c.1826A>T (p.Gln609Leu) c.1733A>T (p.Gln578Leu) | |
| 9 | g.36218230T>C | CA373425057 | CLTA,GNE | c.1979A>G (p.Gln660Arg) c.1709A>G (p.Gln570Arg) c.1886A>G (p.Gln629Arg) c.1664A>G (p.Gln555Arg) c.485+14051T>C (n.485+14051T>C) c.1556A>G (p.Gln519Arg) c.1871A>G (p.Gln624Arg) c.1826A>G (p.Gln609Arg) c.1733A>G (p.Gln578Arg) | |
| 9 | g.36218230T>G | CA373425059 | CLTA,GNE | c.1979A>C (p.Gln660Pro) c.1709A>C (p.Gln570Pro) c.1886A>C (p.Gln629Pro) c.1664A>C (p.Gln555Pro) c.485+14051T>G (n.485+14051T>G) c.1556A>C (p.Gln519Pro) c.1871A>C (p.Gln624Pro) c.1826A>C (p.Gln609Pro) c.1733A>C (p.Gln578Pro) | |
| 9 | g.36218231G>A | CA373425060 | CLTA,GNE | c.1978C>T (p.Gln660Ter) c.1708C>T (p.Gln570Ter) c.1885C>T (p.Gln629Ter) c.1663C>T (p.Gln555Ter) c.485+14052G>A (n.485+14052G>A) c.1555C>T (p.Gln519Ter) c.1870C>T (p.Gln624Ter) c.1825C>T (p.Gln609Ter) c.1732C>T (p.Gln578Ter) | ClinVar |
| 9 | g.36218231G>C | CA373425062 | CLTA,GNE | c.1978C>G (p.Gln660Glu) c.1708C>G (p.Gln570Glu) c.1885C>G (p.Gln629Glu) c.1663C>G (p.Gln555Glu) c.485+14052G>C (n.485+14052G>C) c.1555C>G (p.Gln519Glu) c.1870C>G (p.Gln624Glu) c.1825C>G (p.Gln609Glu) c.1732C>G (p.Gln578Glu) | gnomAD v4 |
| 9 | g.36218231G>T | CA373425064 | CLTA,GNE | c.1978C>A (p.Gln660Lys) c.1708C>A (p.Gln570Lys) c.1885C>A (p.Gln629Lys) c.1663C>A (p.Gln555Lys) c.485+14052G>T (n.485+14052G>T) c.1555C>A (p.Gln519Lys) c.1870C>A (p.Gln624Lys) c.1825C>A (p.Gln609Lys) c.1732C>A (p.Gln578Lys) | |
| 9 | g.36218232G>A | CA464494816 | CLTA,GNE | c.1977C>T (p.Ile659=) c.1707C>T (p.Ile569=) c.1884C>T (p.Ile628=) c.1662C>T (p.Ile554=) c.485+14053G>A (n.485+14053G>A) c.1554C>T (p.Ile518=) c.1869C>T (p.Ile623=) c.1824C>T (p.Ile608=) c.1731C>T (p.Ile577=) | |
| 9 | g.36218232G>C | CA5056398 | CLTA,GNE | c.1977C>G (p.Ile659Met) c.1707C>G (p.Ile569Met) c.1884C>G (p.Ile628Met) c.1662C>G (p.Ile554Met) c.485+14053G>C (n.485+14053G>C) c.1554C>G (p.Ile518Met) c.1869C>G (p.Ile623Met) c.1824C>G (p.Ile608Met) c.1731C>G (p.Ile577Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36218232G= | CA1846325431 | CLTA,GNE | c.1977C= (p.Ile659=) c.1707C= (p.Ile569=) c.1884C= (p.Ile628=) c.1662C= (p.Ile554=) c.485+14053G= (n.485+14053G=) c.1554C= (p.Ile518=) c.1869C= (p.Ile623=) c.1824C= (p.Ile608=) c.1731C= (p.Ile577=) | |
| 9 | g.36218232G>T | CA464494817 | CLTA,GNE | c.1977C>A (p.Ile659=) c.1707C>A (p.Ile569=) c.1884C>A (p.Ile628=) c.1662C>A (p.Ile554=) c.485+14053G>T (n.485+14053G>T) c.1554C>A (p.Ile518=) c.1869C>A (p.Ile623=) c.1824C>A (p.Ile608=) c.1731C>A (p.Ile577=) | |
| 9 | g.36218233A>C | CA373425070 | CLTA,GNE | c.1976T>G (p.Ile659Ser) c.1706T>G (p.Ile569Ser) c.1883T>G (p.Ile628Ser) c.1661T>G (p.Ile554Ser) c.485+14054A>C (n.485+14054A>C) c.1553T>G (p.Ile518Ser) c.1868T>G (p.Ile623Ser) c.1823T>G (p.Ile608Ser) c.1730T>G (p.Ile577Ser) | |
| 9 | g.36218233A>G | CA373425068 | CLTA,GNE | c.1976T>C (p.Ile659Thr) c.1706T>C (p.Ile569Thr) c.1883T>C (p.Ile628Thr) c.1661T>C (p.Ile554Thr) c.485+14054A>G (n.485+14054A>G) c.1553T>C (p.Ile518Thr) c.1868T>C (p.Ile623Thr) c.1823T>C (p.Ile608Thr) c.1730T>C (p.Ile577Thr) | |
| 9 | g.36218233A>T | CA373425067 | CLTA,GNE | c.1976T>A (p.Ile659Asn) c.1706T>A (p.Ile569Asn) c.1883T>A (p.Ile628Asn) c.1661T>A (p.Ile554Asn) c.485+14054A>T (n.485+14054A>T) c.1553T>A (p.Ile518Asn) c.1868T>A (p.Ile623Asn) c.1823T>A (p.Ile608Asn) c.1730T>A (p.Ile577Asn) | |
| 9 | g.36218234T>A | CA373425072 | CLTA,GNE | c.1975A>T (p.Ile659Phe) c.1705A>T (p.Ile569Phe) c.1882A>T (p.Ile628Phe) c.1660A>T (p.Ile554Phe) c.485+14055T>A (n.485+14055T>A) c.1552A>T (p.Ile518Phe) c.1867A>T (p.Ile623Phe) c.1822A>T (p.Ile608Phe) c.1729A>T (p.Ile577Phe) | dbSNP |
| 9 | g.36218234T>C | CA373425075 | CLTA,GNE | c.1975A>G (p.Ile659Val) c.1705A>G (p.Ile569Val) c.1882A>G (p.Ile628Val) c.1660A>G (p.Ile554Val) c.485+14055T>C (n.485+14055T>C) c.1552A>G (p.Ile518Val) c.1867A>G (p.Ile623Val) c.1822A>G (p.Ile608Val) c.1729A>G (p.Ile577Val) | |
| 9 | g.36218234T>G | CA373425073 | CLTA,GNE | c.1975A>C (p.Ile659Leu) c.1705A>C (p.Ile569Leu) c.1882A>C (p.Ile628Leu) c.1660A>C (p.Ile554Leu) c.485+14055T>G (n.485+14055T>G) c.1552A>C (p.Ile518Leu) c.1867A>C (p.Ile623Leu) c.1822A>C (p.Ile608Leu) c.1729A>C (p.Ile577Leu) | gnomAD v4 |
| 9 | g.36218234T= | CA1846325439 | CLTA,GNE | c.1975A= (p.Ile659=) c.1705A= (p.Ile569=) c.1882A= (p.Ile628=) c.1660A= (p.Ile554=) c.485+14055T= (n.485+14055T=) c.1552A= (p.Ile518=) c.1867A= (p.Ile623=) c.1822A= (p.Ile608=) c.1729A= (p.Ile577=) | |
| 9 | g.36218235G>A | CA464494818 | CLTA,GNE | c.1974C>T (p.Leu658=) c.1704C>T (p.Leu568=) c.1881C>T (p.Leu627=) c.1659C>T (p.Leu553=) c.485+14056G>A (n.485+14056G>A) c.1551C>T (p.Leu517=) c.1866C>T (p.Leu622=) c.1821C>T (p.Leu607=) c.1728C>T (p.Leu576=) | ClinVar |
| 9 | g.36218235G>C | CA464494819 | CLTA,GNE | c.1974C>G (p.Leu658=) c.1704C>G (p.Leu568=) c.1881C>G (p.Leu627=) c.1659C>G (p.Leu553=) c.485+14056G>C (n.485+14056G>C) c.1551C>G (p.Leu517=) c.1866C>G (p.Leu622=) c.1821C>G (p.Leu607=) c.1728C>G (p.Leu576=) | |
| 9 | g.36218235G>T | CA464494820 | CLTA,GNE | c.1974C>A (p.Leu658=) c.1704C>A (p.Leu568=) c.1881C>A (p.Leu627=) c.1659C>A (p.Leu553=) c.485+14056G>T (n.485+14056G>T) c.1551C>A (p.Leu517=) c.1866C>A (p.Leu622=) c.1821C>A (p.Leu607=) c.1728C>A (p.Leu576=) | |
| 9 | g.36218236A>C | CA373425077 | CLTA,GNE | c.1973T>G (p.Leu658Arg) c.1703T>G (p.Leu568Arg) c.1880T>G (p.Leu627Arg) c.1658T>G (p.Leu553Arg) c.485+14057A>C (n.485+14057A>C) c.1550T>G (p.Leu517Arg) c.1865T>G (p.Leu622Arg) c.1820T>G (p.Leu607Arg) c.1727T>G (p.Leu576Arg) | |
| 9 | g.36218236A>G | CA373425079 | CLTA,GNE | c.1973T>C (p.Leu658Pro) c.1703T>C (p.Leu568Pro) c.1880T>C (p.Leu627Pro) c.1658T>C (p.Leu553Pro) c.485+14057A>G (n.485+14057A>G) c.1550T>C (p.Leu517Pro) c.1865T>C (p.Leu622Pro) c.1820T>C (p.Leu607Pro) c.1727T>C (p.Leu576Pro) | |
| 9 | g.36218236A>T | CA373425080 | CLTA,GNE | c.1973T>A (p.Leu658His) c.1703T>A (p.Leu568His) c.1880T>A (p.Leu627His) c.1658T>A (p.Leu553His) c.485+14057A>T (n.485+14057A>T) c.1550T>A (p.Leu517His) c.1865T>A (p.Leu622His) c.1820T>A (p.Leu607His) c.1727T>A (p.Leu576His) | |
| 9 | g.36218237G>A | CA373425082 | CLTA,GNE | c.1972C>T (p.Leu658Phe) c.1702C>T (p.Leu568Phe) c.1879C>T (p.Leu627Phe) c.1657C>T (p.Leu553Phe) c.485+14058G>A (n.485+14058G>A) c.1549C>T (p.Leu517Phe) c.1864C>T (p.Leu622Phe) c.1819C>T (p.Leu607Phe) c.1726C>T (p.Leu576Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36218237G>C | CA373425084 | CLTA,GNE | c.1972C>G (p.Leu658Val) c.1702C>G (p.Leu568Val) c.1879C>G (p.Leu627Val) c.1657C>G (p.Leu553Val) c.485+14058G>C (n.485+14058G>C) c.1549C>G (p.Leu517Val) c.1864C>G (p.Leu622Val) c.1819C>G (p.Leu607Val) c.1726C>G (p.Leu576Val) | |
| 9 | g.36218237G= | CA1846325448 | CLTA,GNE | c.1972C= (p.Leu658=) c.1702C= (p.Leu568=) c.1879C= (p.Leu627=) c.1657C= (p.Leu553=) c.485+14058G= (n.485+14058G=) c.1549C= (p.Leu517=) c.1864C= (p.Leu622=) c.1819C= (p.Leu607=) c.1726C= (p.Leu576=) | |
| 9 | g.36218237G>T | CA373425086 | CLTA,GNE | c.1972C>A (p.Leu658Ile) c.1702C>A (p.Leu568Ile) c.1879C>A (p.Leu627Ile) c.1657C>A (p.Leu553Ile) c.485+14058G>T (n.485+14058G>T) c.1549C>A (p.Leu517Ile) c.1864C>A (p.Leu622Ile) c.1819C>A (p.Leu607Ile) c.1726C>A (p.Leu576Ile) | |
| 9 | g.36218238A= | CA1846325453 | CLTA,GNE | c.1971T= (p.His657=) c.1701T= (p.His567=) c.1878T= (p.His626=) c.1656T= (p.His552=) c.485+14059A= (n.485+14059A=) c.1548T= (p.His516=) c.1863T= (p.His621=) c.1818T= (p.His606=) c.1725T= (p.His575=) | |
| 9 | g.36218238A>C | CA373425088 | CLTA,GNE | c.1971T>G (p.His657Gln) c.1701T>G (p.His567Gln) c.1878T>G (p.His626Gln) c.1656T>G (p.His552Gln) c.485+14059A>C (n.485+14059A>C) c.1548T>G (p.His516Gln) c.1863T>G (p.His621Gln) c.1818T>G (p.His606Gln) c.1725T>G (p.His575Gln) |