| 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.33739390C>A | CA16043634 | ASXL3 | c.1989C>A (p.Tyr663Ter) c.1986C>A (p.Tyr662Ter) c.*1110C>A (n.*1110C>A) c.*1645C>A (n.*1645C>A) c.2198C>A (n.2198C>A) c.1818C>A (p.Tyr606Ter) c.1866C>A (p.Tyr622Ter) c.1962C>A (p.Tyr654Ter) c.1908C>A (p.Tyr636Ter) c.1869C>A (p.Tyr623Ter) | ClinVar dbSNP |
| 18 | g.33739390C= | CA2294855955 | ASXL3 | c.1989C= (p.Tyr663=) c.1986C= (p.Tyr662=) c.*1110C= (n.*1110C=) c.*1645C= (n.*1645C=) c.2198C= (n.2198C=) c.1818C= (p.Tyr606=) c.1866C= (p.Tyr622=) c.1962C= (p.Tyr654=) c.1908C= (p.Tyr636=) c.1869C= (p.Tyr623=) | |
| 18 | g.33739390C>G | CA402177021 | ASXL3 | c.1989C>G (p.Tyr663Ter) c.1986C>G (p.Tyr662Ter) c.*1110C>G (n.*1110C>G) c.*1645C>G (n.*1645C>G) c.2198C>G (n.2198C>G) c.1818C>G (p.Tyr606Ter) c.1866C>G (p.Tyr622Ter) c.1962C>G (p.Tyr654Ter) c.1908C>G (p.Tyr636Ter) c.1869C>G (p.Tyr623Ter) | |
| 18 | g.33739390C>T | CA503768728 | ASXL3 | c.1989C>T (p.Tyr663=) c.1986C>T (p.Tyr662=) c.*1110C>T (n.*1110C>T) c.*1645C>T (n.*1645C>T) c.2198C>T (n.2198C>T) c.1818C>T (p.Tyr606=) c.1866C>T (p.Tyr622=) c.1962C>T (p.Tyr654=) c.1908C>T (p.Tyr636=) c.1869C>T (p.Tyr623=) | |
| 18 | g.33739391A= | CA2294855956 | ASXL3 | c.1990A= (p.Asn664=) c.1987A= (p.Asn663=) c.*1111A= (n.*1111A=) c.*1646A= (n.*1646A=) c.2199A= (n.2199A=) c.1819A= (p.Asn607=) c.1867A= (p.Asn623=) c.1963A= (p.Asn655=) c.1909A= (p.Asn637=) c.1870A= (p.Asn624=) | |
| 18 | g.33739391A>C | CA402177022 | ASXL3 | c.1990A>C (p.Asn664His) c.1987A>C (p.Asn663His) c.*1111A>C (n.*1111A>C) c.*1646A>C (n.*1646A>C) c.2199A>C (n.2199A>C) c.1819A>C (p.Asn607His) c.1867A>C (p.Asn623His) c.1963A>C (p.Asn655His) c.1909A>C (p.Asn637His) c.1870A>C (p.Asn624His) | |
| 18 | g.33739391A>G | CA402177023 | ASXL3 | c.1990A>G (p.Asn664Asp) c.1987A>G (p.Asn663Asp) c.*1111A>G (n.*1111A>G) c.*1646A>G (n.*1646A>G) c.2199A>G (n.2199A>G) c.1819A>G (p.Asn607Asp) c.1867A>G (p.Asn623Asp) c.1963A>G (p.Asn655Asp) c.1909A>G (p.Asn637Asp) c.1870A>G (p.Asn624Asp) | |
| 18 | g.33739391A>T | CA402177024 | ASXL3 | c.1990A>T (p.Asn664Tyr) c.1987A>T (p.Asn663Tyr) c.*1111A>T (n.*1111A>T) c.*1646A>T (n.*1646A>T) c.2199A>T (n.2199A>T) c.1819A>T (p.Asn607Tyr) c.1867A>T (p.Asn623Tyr) c.1963A>T (p.Asn655Tyr) c.1909A>T (p.Asn637Tyr) c.1870A>T (p.Asn624Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33739392A>C | CA402177025 | ASXL3 | c.1991A>C (p.Asn664Thr) c.1988A>C (p.Asn663Thr) c.*1112A>C (n.*1112A>C) c.*1647A>C (n.*1647A>C) c.2200A>C (n.2200A>C) c.1820A>C (p.Asn607Thr) c.1868A>C (p.Asn623Thr) c.1964A>C (p.Asn655Thr) c.1910A>C (p.Asn637Thr) c.1871A>C (p.Asn624Thr) | |
| 18 | g.33739392A>G | CA402177026 | ASXL3 | c.1991A>G (p.Asn664Ser) c.1988A>G (p.Asn663Ser) c.*1112A>G (n.*1112A>G) c.*1647A>G (n.*1647A>G) c.2200A>G (n.2200A>G) c.1820A>G (p.Asn607Ser) c.1868A>G (p.Asn623Ser) c.1964A>G (p.Asn655Ser) c.1910A>G (p.Asn637Ser) c.1871A>G (p.Asn624Ser) | |
| 18 | g.33739392A>T | CA402177027 | ASXL3 | c.1991A>T (p.Asn664Ile) c.1988A>T (p.Asn663Ile) c.*1112A>T (n.*1112A>T) c.*1647A>T (n.*1647A>T) c.2200A>T (n.2200A>T) c.1820A>T (p.Asn607Ile) c.1868A>T (p.Asn623Ile) c.1964A>T (p.Asn655Ile) c.1910A>T (p.Asn637Ile) c.1871A>T (p.Asn624Ile) | |
| 18 | g.33739393C>A | CA402177028 | ASXL3 | c.1992C>A (p.Asn664Lys) c.1989C>A (p.Asn663Lys) c.*1113C>A (n.*1113C>A) c.*1648C>A (n.*1648C>A) c.2201C>A (n.2201C>A) c.1821C>A (p.Asn607Lys) c.1869C>A (p.Asn623Lys) c.1965C>A (p.Asn655Lys) c.1911C>A (p.Asn637Lys) c.1872C>A (p.Asn624Lys) | |
| 18 | g.33739393C>G | CA402177029 | ASXL3 | c.1992C>G (p.Asn664Lys) c.1989C>G (p.Asn663Lys) c.*1113C>G (n.*1113C>G) c.*1648C>G (n.*1648C>G) c.2201C>G (n.2201C>G) c.1821C>G (p.Asn607Lys) c.1869C>G (p.Asn623Lys) c.1965C>G (p.Asn655Lys) c.1911C>G (p.Asn637Lys) c.1872C>G (p.Asn624Lys) | |
| 18 | g.33739393C>T | CA503768730 | ASXL3 | c.1992C>T (p.Asn664=) c.1989C>T (p.Asn663=) c.*1113C>T (n.*1113C>T) c.*1648C>T (n.*1648C>T) c.2201C>T (n.2201C>T) c.1821C>T (p.Asn607=) c.1869C>T (p.Asn623=) c.1965C>T (p.Asn655=) c.1911C>T (p.Asn637=) c.1872C>T (p.Asn624=) | |
| 18 | g.33739394C>A | CA402177030 | ASXL3 | c.1993C>A (p.Gln665Lys) c.1990C>A (p.Gln664Lys) c.*1114C>A (n.*1114C>A) c.*1649C>A (n.*1649C>A) c.2202C>A (n.2202C>A) c.1822C>A (p.Gln608Lys) c.1870C>A (p.Gln624Lys) c.1966C>A (p.Gln656Lys) c.1912C>A (p.Gln638Lys) c.1873C>A (p.Gln625Lys) | |
| 18 | g.33739394C= | CA2294855957 | ASXL3 | c.1993C= (p.Gln665=) c.1990C= (p.Gln664=) c.*1114C= (n.*1114C=) c.*1649C= (n.*1649C=) c.2202C= (n.2202C=) c.1822C= (p.Gln608=) c.1870C= (p.Gln624=) c.1966C= (p.Gln656=) c.1912C= (p.Gln638=) c.1873C= (p.Gln625=) | |
| 18 | g.33739394C>G | CA8933849 | ASXL3 | c.1993C>G (p.Gln665Glu) c.1990C>G (p.Gln664Glu) c.*1114C>G (n.*1114C>G) c.*1649C>G (n.*1649C>G) c.2202C>G (n.2202C>G) c.1822C>G (p.Gln608Glu) c.1870C>G (p.Gln624Glu) c.1966C>G (p.Gln656Glu) c.1912C>G (p.Gln638Glu) c.1873C>G (p.Gln625Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33739394C>T | CA402177031 | ASXL3 | c.1993C>T (p.Gln665Ter) c.1990C>T (p.Gln664Ter) c.*1114C>T (n.*1114C>T) c.*1649C>T (n.*1649C>T) c.2202C>T (n.2202C>T) c.1822C>T (p.Gln608Ter) c.1870C>T (p.Gln624Ter) c.1966C>T (p.Gln656Ter) c.1912C>T (p.Gln638Ter) c.1873C>T (p.Gln625Ter) | ClinVar |
| 18 | g.33739395A= | CA2294855958 | ASXL3 | c.1994A= (p.Gln665=) c.1991A= (p.Gln664=) c.*1115A= (n.*1115A=) c.*1650A= (n.*1650A=) c.2203A= (n.2203A=) c.1823A= (p.Gln608=) c.1871A= (p.Gln624=) c.1967A= (p.Gln656=) c.1913A= (p.Gln638=) c.1874A= (p.Gln625=) | |
| 18 | g.33739395A>C | CA402177032 | ASXL3 | c.1994A>C (p.Gln665Pro) c.1991A>C (p.Gln664Pro) c.*1115A>C (n.*1115A>C) c.*1650A>C (n.*1650A>C) c.2203A>C (n.2203A>C) c.1823A>C (p.Gln608Pro) c.1871A>C (p.Gln624Pro) c.1967A>C (p.Gln656Pro) c.1913A>C (p.Gln638Pro) c.1874A>C (p.Gln625Pro) | |
| 18 | g.33739395A>G | CA8933850 | ASXL3 | c.1994A>G (p.Gln665Arg) c.1991A>G (p.Gln664Arg) c.*1115A>G (n.*1115A>G) c.*1650A>G (n.*1650A>G) c.2203A>G (n.2203A>G) c.1823A>G (p.Gln608Arg) c.1871A>G (p.Gln624Arg) c.1967A>G (p.Gln656Arg) c.1913A>G (p.Gln638Arg) c.1874A>G (p.Gln625Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33739395A>T | CA402177033 | ASXL3 | c.1994A>T (p.Gln665Leu) c.1991A>T (p.Gln664Leu) c.*1115A>T (n.*1115A>T) c.*1650A>T (n.*1650A>T) c.2203A>T (n.2203A>T) c.1823A>T (p.Gln608Leu) c.1871A>T (p.Gln624Leu) c.1967A>T (p.Gln656Leu) c.1913A>T (p.Gln638Leu) c.1874A>T (p.Gln625Leu) | |
| 18 | g.33739396G>A | CA503768734 | ASXL3 | c.1995G>A (p.Gln665=) c.1992G>A (p.Gln664=) c.*1116G>A (n.*1116G>A) c.*1651G>A (n.*1651G>A) c.2204G>A (n.2204G>A) c.1824G>A (p.Gln608=) c.1872G>A (p.Gln624=) c.1968G>A (p.Gln656=) c.1914G>A (p.Gln638=) c.1875G>A (p.Gln625=) | |
| 18 | g.33739396G>C | CA402177034 | ASXL3 | c.1995G>C (p.Gln665His) c.1992G>C (p.Gln664His) c.*1116G>C (n.*1116G>C) c.*1651G>C (n.*1651G>C) c.2204G>C (n.2204G>C) c.1824G>C (p.Gln608His) c.1872G>C (p.Gln624His) c.1968G>C (p.Gln656His) c.1914G>C (p.Gln638His) c.1875G>C (p.Gln625His) | |
| 18 | g.33739396G>T | CA402177035 | ASXL3 | c.1995G>T (p.Gln665His) c.1992G>T (p.Gln664His) c.*1116G>T (n.*1116G>T) c.*1651G>T (n.*1651G>T) c.2204G>T (n.2204G>T) c.1824G>T (p.Gln608His) c.1872G>T (p.Gln624His) c.1968G>T (p.Gln656His) c.1914G>T (p.Gln638His) c.1875G>T (p.Gln625His) | |
| 18 | g.33739397A>C | CA503768739 | ASXL3 | c.1996A>C (p.Arg666=) c.1993A>C (p.Arg665=) c.*1117A>C (n.*1117A>C) c.*1652A>C (n.*1652A>C) c.2205A>C (n.2205A>C) c.1825A>C (p.Arg609=) c.1873A>C (p.Arg625=) c.1969A>C (p.Arg657=) c.1915A>C (p.Arg639=) c.1876A>C (p.Arg626=) | |
| 18 | g.33739397A>G | CA402177036 | ASXL3 | c.1996A>G (p.Arg666Gly) c.1993A>G (p.Arg665Gly) c.*1117A>G (n.*1117A>G) c.*1652A>G (n.*1652A>G) c.2205A>G (n.2205A>G) c.1825A>G (p.Arg609Gly) c.1873A>G (p.Arg625Gly) c.1969A>G (p.Arg657Gly) c.1915A>G (p.Arg639Gly) c.1876A>G (p.Arg626Gly) | gnomAD v4 |
| 18 | g.33739397A>T | CA402177037 | ASXL3 | c.1996A>T (p.Arg666Ter) c.1993A>T (p.Arg665Ter) c.*1117A>T (n.*1117A>T) c.*1652A>T (n.*1652A>T) c.2205A>T (n.2205A>T) c.1825A>T (p.Arg609Ter) c.1873A>T (p.Arg625Ter) c.1969A>T (p.Arg657Ter) c.1915A>T (p.Arg639Ter) c.1876A>T (p.Arg626Ter) | |
| 18 | g.33739398G>A | CA402177038 | ASXL3 | c.1997G>A (p.Arg666Lys) c.1994G>A (p.Arg665Lys) c.*1118G>A (n.*1118G>A) c.*1653G>A (n.*1653G>A) c.2206G>A (n.2206G>A) c.1826G>A (p.Arg609Lys) c.1874G>A (p.Arg625Lys) c.1970G>A (p.Arg657Lys) c.1916G>A (p.Arg639Lys) c.1877G>A (p.Arg626Lys) | |
| 18 | g.33739398G>C | CA402177039 | ASXL3 | c.1997G>C (p.Arg666Thr) c.1994G>C (p.Arg665Thr) c.*1118G>C (n.*1118G>C) c.*1653G>C (n.*1653G>C) c.2206G>C (n.2206G>C) c.1826G>C (p.Arg609Thr) c.1874G>C (p.Arg625Thr) c.1970G>C (p.Arg657Thr) c.1916G>C (p.Arg639Thr) c.1877G>C (p.Arg626Thr) | |
| 18 | g.33739398G>T | CA402177040 | ASXL3 | c.1997G>T (p.Arg666Ile) c.1994G>T (p.Arg665Ile) c.*1118G>T (n.*1118G>T) c.*1653G>T (n.*1653G>T) c.2206G>T (n.2206G>T) c.1826G>T (p.Arg609Ile) c.1874G>T (p.Arg625Ile) c.1970G>T (p.Arg657Ile) c.1916G>T (p.Arg639Ile) c.1877G>T (p.Arg626Ile) | |
| 18 | g.33739399A= | CA2294855959 | ASXL3 | c.1998A= (p.Arg666=) c.1995A= (p.Arg665=) c.*1119A= (n.*1119A=) c.*1654A= (n.*1654A=) c.2207A= (n.2207A=) c.1827A= (p.Arg609=) c.1875A= (p.Arg625=) c.1971A= (p.Arg657=) c.1917A= (p.Arg639=) c.1878A= (p.Arg626=) | |
| 18 | g.33739399A>C | CA402177041 | ASXL3 | c.1998A>C (p.Arg666Ser) c.1995A>C (p.Arg665Ser) c.*1119A>C (n.*1119A>C) c.*1654A>C (n.*1654A>C) c.2207A>C (n.2207A>C) c.1827A>C (p.Arg609Ser) c.1875A>C (p.Arg625Ser) c.1971A>C (p.Arg657Ser) c.1917A>C (p.Arg639Ser) c.1878A>C (p.Arg626Ser) | gnomAD v4 |
| 18 | g.33739399A>G | CA8933851 | ASXL3 | c.1998A>G (p.Arg666=) c.1995A>G (p.Arg665=) c.*1119A>G (n.*1119A>G) c.*1654A>G (n.*1654A>G) c.2207A>G (n.2207A>G) c.1827A>G (p.Arg609=) c.1875A>G (p.Arg625=) c.1971A>G (p.Arg657=) c.1917A>G (p.Arg639=) c.1878A>G (p.Arg626=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33739399A>T | CA402177042 | ASXL3 | c.1998A>T (p.Arg666Ser) c.1995A>T (p.Arg665Ser) c.*1119A>T (n.*1119A>T) c.*1654A>T (n.*1654A>T) c.2207A>T (n.2207A>T) c.1827A>T (p.Arg609Ser) c.1875A>T (p.Arg625Ser) c.1971A>T (p.Arg657Ser) c.1917A>T (p.Arg639Ser) c.1878A>T (p.Arg626Ser) | |
| 18 | g.33739400A= | CA2294855960 | ASXL3 | c.1999A= (p.Asn667=) c.1996A= (p.Asn666=) c.*1120A= (n.*1120A=) c.*1655A= (n.*1655A=) c.2208A= (n.2208A=) c.1828A= (p.Asn610=) c.1876A= (p.Asn626=) c.1972A= (p.Asn658=) c.1918A= (p.Asn640=) c.1879A= (p.Asn627=) | |
| 18 | g.33739400A>C | CA402177043 | ASXL3 | c.1999A>C (p.Asn667His) c.1996A>C (p.Asn666His) c.*1120A>C (n.*1120A>C) c.*1655A>C (n.*1655A>C) c.2208A>C (n.2208A>C) c.1828A>C (p.Asn610His) c.1876A>C (p.Asn626His) c.1972A>C (p.Asn658His) c.1918A>C (p.Asn640His) c.1879A>C (p.Asn627His) | |
| 18 | g.33739400A>G | CA8933852 | ASXL3 | c.1999A>G (p.Asn667Asp) c.1996A>G (p.Asn666Asp) c.*1120A>G (n.*1120A>G) c.*1655A>G (n.*1655A>G) c.2208A>G (n.2208A>G) c.1828A>G (p.Asn610Asp) c.1876A>G (p.Asn626Asp) c.1972A>G (p.Asn658Asp) c.1918A>G (p.Asn640Asp) c.1879A>G (p.Asn627Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33739400A>T | CA402177044 | ASXL3 | c.1999A>T (p.Asn667Tyr) c.1996A>T (p.Asn666Tyr) c.*1120A>T (n.*1120A>T) c.*1655A>T (n.*1655A>T) c.2208A>T (n.2208A>T) c.1828A>T (p.Asn610Tyr) c.1876A>T (p.Asn626Tyr) c.1972A>T (p.Asn658Tyr) c.1918A>T (p.Asn640Tyr) c.1879A>T (p.Asn627Tyr) | |
| 18 | g.33739401A= | CA2294855961 | ASXL3 | c.2000A= (p.Asn667=) c.1997A= (p.Asn666=) c.*1121A= (n.*1121A=) c.*1656A= (n.*1656A=) c.2209A= (n.2209A=) c.1829A= (p.Asn610=) c.1877A= (p.Asn626=) c.1973A= (p.Asn658=) c.1919A= (p.Asn640=) c.1880A= (p.Asn627=) | |
| 18 | g.33739401A>C | CA402177046 | ASXL3 | c.2000A>C (p.Asn667Thr) c.1997A>C (p.Asn666Thr) c.*1121A>C (n.*1121A>C) c.*1656A>C (n.*1656A>C) c.2209A>C (n.2209A>C) c.1829A>C (p.Asn610Thr) c.1877A>C (p.Asn626Thr) c.1973A>C (p.Asn658Thr) c.1919A>C (p.Asn640Thr) c.1880A>C (p.Asn627Thr) | |
| 18 | g.33739401A>G | CA297787183 | ASXL3 | c.2000A>G (p.Asn667Ser) c.1997A>G (p.Asn666Ser) c.*1121A>G (n.*1121A>G) c.*1656A>G (n.*1656A>G) c.2209A>G (n.2209A>G) c.1829A>G (p.Asn610Ser) c.1877A>G (p.Asn626Ser) c.1973A>G (p.Asn658Ser) c.1919A>G (p.Asn640Ser) c.1880A>G (p.Asn627Ser) | dbSNP gnomAD v4 |
| 18 | g.33739401A>T | CA402177045 | ASXL3 | c.2000A>T (p.Asn667Ile) c.1997A>T (p.Asn666Ile) c.*1121A>T (n.*1121A>T) c.*1656A>T (n.*1656A>T) c.2209A>T (n.2209A>T) c.1829A>T (p.Asn610Ile) c.1877A>T (p.Asn626Ile) c.1973A>T (p.Asn658Ile) c.1919A>T (p.Asn640Ile) c.1880A>T (p.Asn627Ile) | |
| 18 | g.33739402T>A | CA402177047 | ASXL3 | c.2001T>A (p.Asn667Lys) c.1998T>A (p.Asn666Lys) c.*1122T>A (n.*1122T>A) c.*1657T>A (n.*1657T>A) c.2210T>A (n.2210T>A) c.1830T>A (p.Asn610Lys) c.1878T>A (p.Asn626Lys) c.1974T>A (p.Asn658Lys) c.1920T>A (p.Asn640Lys) c.1881T>A (p.Asn627Lys) | |
| 18 | g.33739402T>C | CA503768742 | ASXL3 | c.2001T>C (p.Asn667=) c.1998T>C (p.Asn666=) c.*1122T>C (n.*1122T>C) c.*1657T>C (n.*1657T>C) c.2210T>C (n.2210T>C) c.1830T>C (p.Asn610=) c.1878T>C (p.Asn626=) c.1974T>C (p.Asn658=) c.1920T>C (p.Asn640=) c.1881T>C (p.Asn627=) | |
| 18 | g.33739402T>G | CA402177048 | ASXL3 | c.2001T>G (p.Asn667Lys) c.1998T>G (p.Asn666Lys) c.*1122T>G (n.*1122T>G) c.*1657T>G (n.*1657T>G) c.2210T>G (n.2210T>G) c.1830T>G (p.Asn610Lys) c.1878T>G (p.Asn626Lys) c.1974T>G (p.Asn658Lys) c.1920T>G (p.Asn640Lys) c.1881T>G (p.Asn627Lys) | |
| 18 | g.33739403T>A | CA402177049 | ASXL3 | c.2002T>A (p.Ser668Thr) c.1999T>A (p.Ser667Thr) c.*1123T>A (n.*1123T>A) c.*1658T>A (n.*1658T>A) c.2211T>A (n.2211T>A) c.1831T>A (p.Ser611Thr) c.1879T>A (p.Ser627Thr) c.1975T>A (p.Ser659Thr) c.1921T>A (p.Ser641Thr) c.1882T>A (p.Ser628Thr) | |
| 18 | g.33739403T>C | CA402177050 | ASXL3 | c.2002T>C (p.Ser668Pro) c.1999T>C (p.Ser667Pro) c.*1123T>C (n.*1123T>C) c.*1658T>C (n.*1658T>C) c.2211T>C (n.2211T>C) c.1831T>C (p.Ser611Pro) c.1879T>C (p.Ser627Pro) c.1975T>C (p.Ser659Pro) c.1921T>C (p.Ser641Pro) c.1882T>C (p.Ser628Pro) | gnomAD v4 |