| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33736196_33741393del | CA1139666016 | ASXL3 | c.1085+1781_3042+950del c.1082+1781_3039+950del c.*206+1781_*2163+950del c.*741+1781_*2698+950del c.1294+1781_3251+950del c.914+1781_2871+950del c.962+1781_2919+950del c.1058+1781_3015+950del c.1004+1781_2961+950del c.965+1781_2922+950del | ClinVar |
| 18 | g.33736199_33741395del | CA915951347 | ASXL3 | c.1085+1784_3042+952del c.1082+1784_3039+952del c.*206+1784_*2163+952del c.*741+1784_*2698+952del c.1294+1784_3251+952del c.914+1784_2871+952del c.962+1784_2919+952del c.1058+1784_3015+952del c.1004+1784_2961+952del c.965+1784_2922+952del | |
| 18 | g.33739290G>A | CA402176756 | ASXL3 | c.1889G>A (p.Gly630Glu) c.1886G>A (p.Gly629Glu) c.*1010G>A (n.*1010G>A) c.*1545G>A (n.*1545G>A) c.2098G>A (n.2098G>A) c.1718G>A (p.Gly573Glu) c.1766G>A (p.Gly589Glu) c.1862G>A (p.Gly621Glu) c.1808G>A (p.Gly603Glu) c.1769G>A (p.Gly590Glu) | dbSNP |
| 18 | g.33739290G>C | CA402176765 | ASXL3 | c.1889G>C (p.Gly630Ala) c.1886G>C (p.Gly629Ala) c.*1010G>C (n.*1010G>C) c.*1545G>C (n.*1545G>C) c.2098G>C (n.2098G>C) c.1718G>C (p.Gly573Ala) c.1766G>C (p.Gly589Ala) c.1862G>C (p.Gly621Ala) c.1808G>C (p.Gly603Ala) c.1769G>C (p.Gly590Ala) | |
| 18 | g.33739290G= | CA2294855906 | ASXL3 | c.1889G= (p.Gly630=) c.1886G= (p.Gly629=) c.*1010G= (n.*1010G=) c.*1545G= (n.*1545G=) c.2098G= (n.2098G=) c.1718G= (p.Gly573=) c.1766G= (p.Gly589=) c.1862G= (p.Gly621=) c.1808G= (p.Gly603=) c.1769G= (p.Gly590=) | |
| 18 | g.33739290G>T | CA402176767 | ASXL3 | c.1889G>T (p.Gly630Val) c.1886G>T (p.Gly629Val) c.*1010G>T (n.*1010G>T) c.*1545G>T (n.*1545G>T) c.2098G>T (n.2098G>T) c.1718G>T (p.Gly573Val) c.1766G>T (p.Gly589Val) c.1862G>T (p.Gly621Val) c.1808G>T (p.Gly603Val) c.1769G>T (p.Gly590Val) | |
| 18 | g.33739291A>C | CA503768905 | ASXL3 | c.1890A>C (p.Gly630=) c.1887A>C (p.Gly629=) c.*1011A>C (n.*1011A>C) c.*1546A>C (n.*1546A>C) c.2099A>C (n.2099A>C) c.1719A>C (p.Gly573=) c.1767A>C (p.Gly589=) c.1863A>C (p.Gly621=) c.1809A>C (p.Gly603=) c.1770A>C (p.Gly590=) | |
| 18 | g.33739291A>G | CA503768906 | ASXL3 | c.1890A>G (p.Gly630=) c.1887A>G (p.Gly629=) c.*1011A>G (n.*1011A>G) c.*1546A>G (n.*1546A>G) c.2099A>G (n.2099A>G) c.1719A>G (p.Gly573=) c.1767A>G (p.Gly589=) c.1863A>G (p.Gly621=) c.1809A>G (p.Gly603=) c.1770A>G (p.Gly590=) | |
| 18 | g.33739291A>T | CA503768907 | ASXL3 | c.1890A>T (p.Gly630=) c.1887A>T (p.Gly629=) c.*1011A>T (n.*1011A>T) c.*1546A>T (n.*1546A>T) c.2099A>T (n.2099A>T) c.1719A>T (p.Gly573=) c.1767A>T (p.Gly589=) c.1863A>T (p.Gly621=) c.1809A>T (p.Gly603=) c.1770A>T (p.Gly590=) | |
| 18 | g.33739292G>A | CA402176768 | ASXL3 | c.1891G>A (p.Gly631Arg) c.1888G>A (p.Gly630Arg) c.*1012G>A (n.*1012G>A) c.*1547G>A (n.*1547G>A) c.2100G>A (n.2100G>A) c.1720G>A (p.Gly574Arg) c.1768G>A (p.Gly590Arg) c.1864G>A (p.Gly622Arg) c.1810G>A (p.Gly604Arg) c.1771G>A (p.Gly591Arg) | |
| 18 | g.33739292G>C | CA402176769 | ASXL3 | c.1891G>C (p.Gly631Arg) c.1888G>C (p.Gly630Arg) c.*1012G>C (n.*1012G>C) c.*1547G>C (n.*1547G>C) c.2100G>C (n.2100G>C) c.1720G>C (p.Gly574Arg) c.1768G>C (p.Gly590Arg) c.1864G>C (p.Gly622Arg) c.1810G>C (p.Gly604Arg) c.1771G>C (p.Gly591Arg) | |
| 18 | g.33739292G>T | CA402176771 | ASXL3 | c.1891G>T (p.Gly631Trp) c.1888G>T (p.Gly630Trp) c.*1012G>T (n.*1012G>T) c.*1547G>T (n.*1547G>T) c.2100G>T (n.2100G>T) c.1720G>T (p.Gly574Trp) c.1768G>T (p.Gly590Trp) c.1864G>T (p.Gly622Trp) c.1810G>T (p.Gly604Trp) c.1771G>T (p.Gly591Trp) | |
| 18 | g.33739293G>A | CA402176773 | ASXL3 | c.1892G>A (p.Gly631Glu) c.1889G>A (p.Gly630Glu) c.*1013G>A (n.*1013G>A) c.*1548G>A (n.*1548G>A) c.2101G>A (n.2101G>A) c.1721G>A (p.Gly574Glu) c.1769G>A (p.Gly590Glu) c.1865G>A (p.Gly622Glu) c.1811G>A (p.Gly604Glu) c.1772G>A (p.Gly591Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.33739293G>C | CA402176775 | ASXL3 | c.1892G>C (p.Gly631Ala) c.1889G>C (p.Gly630Ala) c.*1013G>C (n.*1013G>C) c.*1548G>C (n.*1548G>C) c.2101G>C (n.2101G>C) c.1721G>C (p.Gly574Ala) c.1769G>C (p.Gly590Ala) c.1865G>C (p.Gly622Ala) c.1811G>C (p.Gly604Ala) c.1772G>C (p.Gly591Ala) | |
| 18 | g.33739293G= | CA2294855907 | ASXL3 | c.1892G= (p.Gly631=) c.1889G= (p.Gly630=) c.*1013G= (n.*1013G=) c.*1548G= (n.*1548G=) c.2101G= (n.2101G=) c.1721G= (p.Gly574=) c.1769G= (p.Gly590=) c.1865G= (p.Gly622=) c.1811G= (p.Gly604=) c.1772G= (p.Gly591=) | |
| 18 | g.33739293G>T | CA402176777 | ASXL3 | c.1892G>T (p.Gly631Val) c.1889G>T (p.Gly630Val) c.*1013G>T (n.*1013G>T) c.*1548G>T (n.*1548G>T) c.2101G>T (n.2101G>T) c.1721G>T (p.Gly574Val) c.1769G>T (p.Gly590Val) c.1865G>T (p.Gly622Val) c.1811G>T (p.Gly604Val) c.1772G>T (p.Gly591Val) | dbSNP |
| 18 | g.33739294G>A | CA8933829 | ASXL3 | c.1893G>A (p.Gly631=) c.1890G>A (p.Gly630=) c.*1014G>A (n.*1014G>A) c.*1549G>A (n.*1549G>A) c.2102G>A (n.2102G>A) c.1722G>A (p.Gly574=) c.1770G>A (p.Gly590=) c.1866G>A (p.Gly622=) c.1812G>A (p.Gly604=) c.1773G>A (p.Gly591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33739294G>C | CA503768908 | ASXL3 | c.1893G>C (p.Gly631=) c.1890G>C (p.Gly630=) c.*1014G>C (n.*1014G>C) c.*1549G>C (n.*1549G>C) c.2102G>C (n.2102G>C) c.1722G>C (p.Gly574=) c.1770G>C (p.Gly590=) c.1866G>C (p.Gly622=) c.1812G>C (p.Gly604=) c.1773G>C (p.Gly591=) | |
| 18 | g.33739294G= | CA2294855908 | ASXL3 | c.1893G= (p.Gly631=) c.1890G= (p.Gly630=) c.*1014G= (n.*1014G=) c.*1549G= (n.*1549G=) c.2102G= (n.2102G=) c.1722G= (p.Gly574=) c.1770G= (p.Gly590=) c.1866G= (p.Gly622=) c.1812G= (p.Gly604=) c.1773G= (p.Gly591=) | |
| 18 | g.33739294G>T | CA503768910 | ASXL3 | c.1893G>T (p.Gly631=) c.1890G>T (p.Gly630=) c.*1014G>T (n.*1014G>T) c.*1549G>T (n.*1549G>T) c.2102G>T (n.2102G>T) c.1722G>T (p.Gly574=) c.1770G>T (p.Gly590=) c.1866G>T (p.Gly622=) c.1812G>T (p.Gly604=) c.1773G>T (p.Gly591=) | |
| 18 | g.33739295G>A | CA402176782 | ASXL3 | c.1894G>A (p.Glu632Lys) c.1891G>A (p.Glu631Lys) c.*1015G>A (n.*1015G>A) c.*1550G>A (n.*1550G>A) c.2103G>A (n.2103G>A) c.1723G>A (p.Glu575Lys) c.1771G>A (p.Glu591Lys) c.1867G>A (p.Glu623Lys) c.1813G>A (p.Glu605Lys) c.1774G>A (p.Glu592Lys) | |
| 18 | g.33739295G>C | CA402176781 | ASXL3 | c.1894G>C (p.Glu632Gln) c.1891G>C (p.Glu631Gln) c.*1015G>C (n.*1015G>C) c.*1550G>C (n.*1550G>C) c.2103G>C (n.2103G>C) c.1723G>C (p.Glu575Gln) c.1771G>C (p.Glu591Gln) c.1867G>C (p.Glu623Gln) c.1813G>C (p.Glu605Gln) c.1774G>C (p.Glu592Gln) | |
| 18 | g.33739295G>T | CA402176783 | ASXL3 | c.1894G>T (p.Glu632Ter) c.1891G>T (p.Glu631Ter) c.*1015G>T (n.*1015G>T) c.*1550G>T (n.*1550G>T) c.2103G>T (n.2103G>T) c.1723G>T (p.Glu575Ter) c.1771G>T (p.Glu591Ter) c.1867G>T (p.Glu623Ter) c.1813G>T (p.Glu605Ter) c.1774G>T (p.Glu592Ter) | |
| 18 | g.33739296A= | CA2294855909 | ASXL3 | c.1895A= (p.Glu632=) c.1892A= (p.Glu631=) c.*1016A= (n.*1016A=) c.*1551A= (n.*1551A=) c.2104A= (n.2104A=) c.1724A= (p.Glu575=) c.1772A= (p.Glu591=) c.1868A= (p.Glu623=) c.1814A= (p.Glu605=) c.1775A= (p.Glu592=) | |
| 18 | g.33739296A>C | CA402176785 | ASXL3 | c.1895A>C (p.Glu632Ala) c.1892A>C (p.Glu631Ala) c.*1016A>C (n.*1016A>C) c.*1551A>C (n.*1551A>C) c.2104A>C (n.2104A>C) c.1724A>C (p.Glu575Ala) c.1772A>C (p.Glu591Ala) c.1868A>C (p.Glu623Ala) c.1814A>C (p.Glu605Ala) c.1775A>C (p.Glu592Ala) | |
| 18 | g.33739296A>G | CA402176788 | ASXL3 | c.1895A>G (p.Glu632Gly) c.1892A>G (p.Glu631Gly) c.*1016A>G (n.*1016A>G) c.*1551A>G (n.*1551A>G) c.2104A>G (n.2104A>G) c.1724A>G (p.Glu575Gly) c.1772A>G (p.Glu591Gly) c.1868A>G (p.Glu623Gly) c.1814A>G (p.Glu605Gly) c.1775A>G (p.Glu592Gly) | |
| 18 | g.33739296A>T | CA402176787 | ASXL3 | c.1895A>T (p.Glu632Val) c.1892A>T (p.Glu631Val) c.*1016A>T (n.*1016A>T) c.*1551A>T (n.*1551A>T) c.2104A>T (n.2104A>T) c.1724A>T (p.Glu575Val) c.1772A>T (p.Glu591Val) c.1868A>T (p.Glu623Val) c.1814A>T (p.Glu605Val) c.1775A>T (p.Glu592Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33739297A>C | CA402176791 | ASXL3 | c.1896A>C (p.Glu632Asp) c.1893A>C (p.Glu631Asp) c.*1017A>C (n.*1017A>C) c.*1552A>C (n.*1552A>C) c.2105A>C (n.2105A>C) c.1725A>C (p.Glu575Asp) c.1773A>C (p.Glu591Asp) c.1869A>C (p.Glu623Asp) c.1815A>C (p.Glu605Asp) c.1776A>C (p.Glu592Asp) | |
| 18 | g.33739297A>G | CA503768911 | ASXL3 | c.1896A>G (p.Glu632=) c.1893A>G (p.Glu631=) c.*1017A>G (n.*1017A>G) c.*1552A>G (n.*1552A>G) c.2105A>G (n.2105A>G) c.1725A>G (p.Glu575=) c.1773A>G (p.Glu591=) c.1869A>G (p.Glu623=) c.1815A>G (p.Glu605=) c.1776A>G (p.Glu592=) | |
| 18 | g.33739297A>T | CA402176793 | ASXL3 | c.1896A>T (p.Glu632Asp) c.1893A>T (p.Glu631Asp) c.*1017A>T (n.*1017A>T) c.*1552A>T (n.*1552A>T) c.2105A>T (n.2105A>T) c.1725A>T (p.Glu575Asp) c.1773A>T (p.Glu591Asp) c.1869A>T (p.Glu623Asp) c.1815A>T (p.Glu605Asp) c.1776A>T (p.Glu592Asp) | |
| 18 | g.33739298A>C | CA402176795 | ASXL3 | c.1897A>C (p.Thr633Pro) c.1894A>C (p.Thr632Pro) c.*1018A>C (n.*1018A>C) c.*1553A>C (n.*1553A>C) c.2106A>C (n.2106A>C) c.1726A>C (p.Thr576Pro) c.1774A>C (p.Thr592Pro) c.1870A>C (p.Thr624Pro) c.1816A>C (p.Thr606Pro) c.1777A>C (p.Thr593Pro) | |
| 18 | g.33739298A>G | CA402176796 | ASXL3 | c.1897A>G (p.Thr633Ala) c.1894A>G (p.Thr632Ala) c.*1018A>G (n.*1018A>G) c.*1553A>G (n.*1553A>G) c.2106A>G (n.2106A>G) c.1726A>G (p.Thr576Ala) c.1774A>G (p.Thr592Ala) c.1870A>G (p.Thr624Ala) c.1816A>G (p.Thr606Ala) c.1777A>G (p.Thr593Ala) | |
| 18 | g.33739298A>T | CA402176803 | ASXL3 | c.1897A>T (p.Thr633Ser) c.1894A>T (p.Thr632Ser) c.*1018A>T (n.*1018A>T) c.*1553A>T (n.*1553A>T) c.2106A>T (n.2106A>T) c.1726A>T (p.Thr576Ser) c.1774A>T (p.Thr592Ser) c.1870A>T (p.Thr624Ser) c.1816A>T (p.Thr606Ser) c.1777A>T (p.Thr593Ser) | |
| 18 | g.33739301_33739302del | CA2580612976 | ASXL3 | c.1900_1901del (p.Gln634ValfsTer13) c.1897_1898del (p.Gln633ValfsTer13) c.*1021_*1022del (n.*1021_*1022del) c.*1556_*1557del (n.*1556_*1557del) c.2109_2110del (n.2109_2110del) c.1729_1730del (p.Gln577ValfsTer13) c.1777_1778del (p.Gln593ValfsTer13) c.1873_1874del (p.Gln625ValfsTer13) c.1819_1820del (p.Gln607ValfsTer13) c.1780_1781del (p.Gln594ValfsTer13) | ClinVar |
| 18 | g.33739299C>A | CA402176807 | ASXL3 | c.1898C>A (p.Thr633Lys) c.1895C>A (p.Thr632Lys) c.*1019C>A (n.*1019C>A) c.*1554C>A (n.*1554C>A) c.2107C>A (n.2107C>A) c.1727C>A (p.Thr576Lys) c.1775C>A (p.Thr592Lys) c.1871C>A (p.Thr624Lys) c.1817C>A (p.Thr606Lys) c.1778C>A (p.Thr593Lys) | |
| 18 | g.33739299C= | CA2294855910 | ASXL3 | c.1898C= (p.Thr633=) c.1895C= (p.Thr632=) c.*1019C= (n.*1019C=) c.*1554C= (n.*1554C=) c.2107C= (n.2107C=) c.1727C= (p.Thr576=) c.1775C= (p.Thr592=) c.1871C= (p.Thr624=) c.1817C= (p.Thr606=) c.1778C= (p.Thr593=) | |
| 18 | g.33739299C>G | CA402176809 | ASXL3 | c.1898C>G (p.Thr633Arg) c.1895C>G (p.Thr632Arg) c.*1019C>G (n.*1019C>G) c.*1554C>G (n.*1554C>G) c.2107C>G (n.2107C>G) c.1727C>G (p.Thr576Arg) c.1775C>G (p.Thr592Arg) c.1871C>G (p.Thr624Arg) c.1817C>G (p.Thr606Arg) c.1778C>G (p.Thr593Arg) | |
| 18 | g.33739299C>T | CA8933830 | ASXL3 | c.1898C>T (p.Thr633Ile) c.1895C>T (p.Thr632Ile) c.*1019C>T (n.*1019C>T) c.*1554C>T (n.*1554C>T) c.2107C>T (n.2107C>T) c.1727C>T (p.Thr576Ile) c.1775C>T (p.Thr592Ile) c.1871C>T (p.Thr624Ile) c.1817C>T (p.Thr606Ile) c.1778C>T (p.Thr593Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33739299dup | CA2695227382 | ASXL3 | c.1898dup (p.Gln634ThrfsTer14) c.1895dup (p.Gln633ThrfsTer14) c.*1019dup (n.*1019dup) c.*1554dup (n.*1554dup) c.2107dup (n.2107dup) c.1727dup (p.Gln577ThrfsTer14) c.1775dup (p.Gln593ThrfsTer14) c.1871dup (p.Gln625ThrfsTer14) c.1817dup (p.Gln607ThrfsTer14) c.1778dup (p.Gln594ThrfsTer14) | |
| 18 | g.33739300A>C | CA503768912 | ASXL3 | c.1899A>C (p.Thr633=) c.1896A>C (p.Thr632=) c.*1020A>C (n.*1020A>C) c.*1555A>C (n.*1555A>C) c.2108A>C (n.2108A>C) c.1728A>C (p.Thr576=) c.1776A>C (p.Thr592=) c.1872A>C (p.Thr624=) c.1818A>C (p.Thr606=) c.1779A>C (p.Thr593=) | |
| 18 | g.33739300A>G | CA503768914 | ASXL3 | c.1899A>G (p.Thr633=) c.1896A>G (p.Thr632=) c.*1020A>G (n.*1020A>G) c.*1555A>G (n.*1555A>G) c.2108A>G (n.2108A>G) c.1728A>G (p.Thr576=) c.1776A>G (p.Thr592=) c.1872A>G (p.Thr624=) c.1818A>G (p.Thr606=) c.1779A>G (p.Thr593=) | gnomAD v4 |
| 18 | g.33739300A>T | CA503768913 | ASXL3 | c.1899A>T (p.Thr633=) c.1896A>T (p.Thr632=) c.*1020A>T (n.*1020A>T) c.*1555A>T (n.*1555A>T) c.2108A>T (n.2108A>T) c.1728A>T (p.Thr576=) c.1776A>T (p.Thr592=) c.1872A>T (p.Thr624=) c.1818A>T (p.Thr606=) c.1779A>T (p.Thr593=) | |
| 18 | g.33739301C>A | CA402176813 | ASXL3 | c.1900C>A (p.Gln634Lys) c.1897C>A (p.Gln633Lys) c.*1021C>A (n.*1021C>A) c.*1556C>A (n.*1556C>A) c.2109C>A (n.2109C>A) c.1729C>A (p.Gln577Lys) c.1777C>A (p.Gln593Lys) c.1873C>A (p.Gln625Lys) c.1819C>A (p.Gln607Lys) c.1780C>A (p.Gln594Lys) | |
| 18 | g.33739301C= | CA2294855911 | ASXL3 | c.1900C= (p.Gln634=) c.1897C= (p.Gln633=) c.*1021C= (n.*1021C=) c.*1556C= (n.*1556C=) c.2109C= (n.2109C=) c.1729C= (p.Gln577=) c.1777C= (p.Gln593=) c.1873C= (p.Gln625=) c.1819C= (p.Gln607=) c.1780C= (p.Gln594=) | |
| 18 | g.33739301C>G | CA402176815 | ASXL3 | c.1900C>G (p.Gln634Glu) c.1897C>G (p.Gln633Glu) c.*1021C>G (n.*1021C>G) c.*1556C>G (n.*1556C>G) c.2109C>G (n.2109C>G) c.1729C>G (p.Gln577Glu) c.1777C>G (p.Gln593Glu) c.1873C>G (p.Gln625Glu) c.1819C>G (p.Gln607Glu) c.1780C>G (p.Gln594Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33739301C>T | CA402176818 | ASXL3 | c.1900C>T (p.Gln634Ter) c.1897C>T (p.Gln633Ter) c.*1021C>T (n.*1021C>T) c.*1556C>T (n.*1556C>T) c.2109C>T (n.2109C>T) c.1729C>T (p.Gln577Ter) c.1777C>T (p.Gln593Ter) c.1873C>T (p.Gln625Ter) c.1819C>T (p.Gln607Ter) c.1780C>T (p.Gln594Ter) | |
| 18 | g.33739302A= | CA2294855912 | ASXL3 | c.1901A= (p.Gln634=) c.1898A= (p.Gln633=) c.*1022A= (n.*1022A=) c.*1557A= (n.*1557A=) c.2110A= (n.2110A=) c.1730A= (p.Gln577=) c.1778A= (p.Gln593=) c.1874A= (p.Gln625=) c.1820A= (p.Gln607=) c.1781A= (p.Gln594=) | |
| 18 | g.33739302A>C | CA402176824 | ASXL3 | c.1901A>C (p.Gln634Pro) c.1898A>C (p.Gln633Pro) c.*1022A>C (n.*1022A>C) c.*1557A>C (n.*1557A>C) c.2110A>C (n.2110A>C) c.1730A>C (p.Gln577Pro) c.1778A>C (p.Gln593Pro) c.1874A>C (p.Gln625Pro) c.1820A>C (p.Gln607Pro) c.1781A>C (p.Gln594Pro) | |
| 18 | g.33739302A>G | CA402176821 | ASXL3 | c.1901A>G (p.Gln634Arg) c.1898A>G (p.Gln633Arg) c.*1022A>G (n.*1022A>G) c.*1557A>G (n.*1557A>G) c.2110A>G (n.2110A>G) c.1730A>G (p.Gln577Arg) c.1778A>G (p.Gln593Arg) c.1874A>G (p.Gln625Arg) c.1820A>G (p.Gln607Arg) c.1781A>G (p.Gln594Arg) | |
| 18 | g.33739302A>T | CA8933831 | ASXL3 | c.1901A>T (p.Gln634Leu) c.1898A>T (p.Gln633Leu) c.*1022A>T (n.*1022A>T) c.*1557A>T (n.*1557A>T) c.2110A>T (n.2110A>T) c.1730A>T (p.Gln577Leu) c.1778A>T (p.Gln593Leu) c.1874A>T (p.Gln625Leu) c.1820A>T (p.Gln607Leu) c.1781A>T (p.Gln594Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |