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.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 |
18 | g.33739403T>G | CA402177051 | ASXL3 | c.2002T>G (p.Ser668Ala) c.1999T>G (p.Ser667Ala) c.*1123T>G (n.*1123T>G) c.*1658T>G (n.*1658T>G) c.2211T>G (n.2211T>G) c.1831T>G (p.Ser611Ala) c.1879T>G (p.Ser627Ala) c.1975T>G (p.Ser659Ala) c.1921T>G (p.Ser641Ala) c.1882T>G (p.Ser628Ala) | |
18 | g.33739404C>A | CA402177052 | ASXL3 | c.2003C>A (p.Ser668Tyr) c.2000C>A (p.Ser667Tyr) c.*1124C>A (n.*1124C>A) c.*1659C>A (n.*1659C>A) c.2212C>A (n.2212C>A) c.1832C>A (p.Ser611Tyr) c.1880C>A (p.Ser627Tyr) c.1976C>A (p.Ser659Tyr) c.1922C>A (p.Ser641Tyr) c.1883C>A (p.Ser628Tyr) | |
18 | g.33739404C>G | CA402177053 | ASXL3 | c.2003C>G (p.Ser668Cys) c.2000C>G (p.Ser667Cys) c.*1124C>G (n.*1124C>G) c.*1659C>G (n.*1659C>G) c.2212C>G (n.2212C>G) c.1832C>G (p.Ser611Cys) c.1880C>G (p.Ser627Cys) c.1976C>G (p.Ser659Cys) c.1922C>G (p.Ser641Cys) c.1883C>G (p.Ser628Cys) | |
18 | g.33739404C>T | CA402177054 | ASXL3 | c.2003C>T (p.Ser668Phe) c.2000C>T (p.Ser667Phe) c.*1124C>T (n.*1124C>T) c.*1659C>T (n.*1659C>T) c.2212C>T (n.2212C>T) c.1832C>T (p.Ser611Phe) c.1880C>T (p.Ser627Phe) c.1976C>T (p.Ser659Phe) c.1922C>T (p.Ser641Phe) c.1883C>T (p.Ser628Phe) | |
18 | g.33739405C>A | CA503768747 | ASXL3 | c.2004C>A (p.Ser668=) c.2001C>A (p.Ser667=) c.*1125C>A (n.*1125C>A) c.*1660C>A (n.*1660C>A) c.2213C>A (n.2213C>A) c.1833C>A (p.Ser611=) c.1881C>A (p.Ser627=) c.1977C>A (p.Ser659=) c.1923C>A (p.Ser641=) c.1884C>A (p.Ser628=) | |
18 | g.33739405C>G | CA503768748 | ASXL3 | c.2004C>G (p.Ser668=) c.2001C>G (p.Ser667=) c.*1125C>G (n.*1125C>G) c.*1660C>G (n.*1660C>G) c.2213C>G (n.2213C>G) c.1833C>G (p.Ser611=) c.1881C>G (p.Ser627=) c.1977C>G (p.Ser659=) c.1923C>G (p.Ser641=) c.1884C>G (p.Ser628=) | gnomAD v4 |
18 | g.33739405C>T | CA503768749 | ASXL3 | c.2004C>T (p.Ser668=) c.2001C>T (p.Ser667=) c.*1125C>T (n.*1125C>T) c.*1660C>T (n.*1660C>T) c.2213C>T (n.2213C>T) c.1833C>T (p.Ser611=) c.1881C>T (p.Ser627=) c.1977C>T (p.Ser659=) c.1923C>T (p.Ser641=) c.1884C>T (p.Ser628=) | COSMIC COSMIC |
18 | g.33739406del | CA2573155244 | ASXL3 | c.2005del (p.Thr669LeufsTer9) c.2002del (p.Thr668LeufsTer9) c.*1126del (n.*1126del) c.*1661del (n.*1661del) c.2214del (n.2214del) c.1834del (p.Thr612LeufsTer9) c.1882del (p.Thr628LeufsTer9) c.1978del (p.Thr660LeufsTer9) c.1924del (p.Thr642LeufsTer9) c.1885del (p.Thr629LeufsTer9) | ClinVar dbSNP |
18 | g.33739406A>C | CA402177055 | ASXL3 | c.2005A>C (p.Thr669Pro) c.2002A>C (p.Thr668Pro) c.*1126A>C (n.*1126A>C) c.*1661A>C (n.*1661A>C) c.2214A>C (n.2214A>C) c.1834A>C (p.Thr612Pro) c.1882A>C (p.Thr628Pro) c.1978A>C (p.Thr660Pro) c.1924A>C (p.Thr642Pro) c.1885A>C (p.Thr629Pro) | |
18 | g.33739406A>G | CA402177056 | ASXL3 | c.2005A>G (p.Thr669Ala) c.2002A>G (p.Thr668Ala) c.*1126A>G (n.*1126A>G) c.*1661A>G (n.*1661A>G) c.2214A>G (n.2214A>G) c.1834A>G (p.Thr612Ala) c.1882A>G (p.Thr628Ala) c.1978A>G (p.Thr660Ala) c.1924A>G (p.Thr642Ala) c.1885A>G (p.Thr629Ala) | |
18 | g.33739406A>T | CA402177057 | ASXL3 | c.2005A>T (p.Thr669Ser) c.2002A>T (p.Thr668Ser) c.*1126A>T (n.*1126A>T) c.*1661A>T (n.*1661A>T) c.2214A>T (n.2214A>T) c.1834A>T (p.Thr612Ser) c.1882A>T (p.Thr628Ser) c.1978A>T (p.Thr660Ser) c.1924A>T (p.Thr642Ser) c.1885A>T (p.Thr629Ser) | gnomAD v4 |
18 | g.33739407C>A | CA402177058 | ASXL3 | c.2006C>A (p.Thr669Asn) c.2003C>A (p.Thr668Asn) c.*1127C>A (n.*1127C>A) c.*1662C>A (n.*1662C>A) c.2215C>A (n.2215C>A) c.1835C>A (p.Thr612Asn) c.1883C>A (p.Thr628Asn) c.1979C>A (p.Thr660Asn) c.1925C>A (p.Thr642Asn) c.1886C>A (p.Thr629Asn) | |
18 | g.33739407C= | CA2294855962 | ASXL3 | c.2006C= (p.Thr669=) c.2003C= (p.Thr668=) c.*1127C= (n.*1127C=) c.*1662C= (n.*1662C=) c.2215C= (n.2215C=) c.1835C= (p.Thr612=) c.1883C= (p.Thr628=) c.1979C= (p.Thr660=) c.1925C= (p.Thr642=) c.1886C= (p.Thr629=) | |
18 | g.33739407C>G | CA402177059 | ASXL3 | c.2006C>G (p.Thr669Ser) c.2003C>G (p.Thr668Ser) c.*1127C>G (n.*1127C>G) c.*1662C>G (n.*1662C>G) c.2215C>G (n.2215C>G) c.1835C>G (p.Thr612Ser) c.1883C>G (p.Thr628Ser) c.1979C>G (p.Thr660Ser) c.1925C>G (p.Thr642Ser) c.1886C>G (p.Thr629Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739407C>T | CA402177060 | ASXL3 | c.2006C>T (p.Thr669Ile) c.2003C>T (p.Thr668Ile) c.*1127C>T (n.*1127C>T) c.*1662C>T (n.*1662C>T) c.2215C>T (n.2215C>T) c.1835C>T (p.Thr612Ile) c.1883C>T (p.Thr628Ile) c.1979C>T (p.Thr660Ile) c.1925C>T (p.Thr642Ile) c.1886C>T (p.Thr629Ile) | |
18 | g.33739408T>A | CA503768754 | ASXL3 | c.2007T>A (p.Thr669=) c.2004T>A (p.Thr668=) c.*1128T>A (n.*1128T>A) c.*1663T>A (n.*1663T>A) c.2216T>A (n.2216T>A) c.1836T>A (p.Thr612=) c.1884T>A (p.Thr628=) c.1980T>A (p.Thr660=) c.1926T>A (p.Thr642=) c.1887T>A (p.Thr629=) | |
18 | g.33739408T>C | CA8933853 | ASXL3 | c.2007T>C (p.Thr669=) c.2004T>C (p.Thr668=) c.*1128T>C (n.*1128T>C) c.*1663T>C (n.*1663T>C) c.2216T>C (n.2216T>C) c.1836T>C (p.Thr612=) c.1884T>C (p.Thr628=) c.1980T>C (p.Thr660=) c.1926T>C (p.Thr642=) c.1887T>C (p.Thr629=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739408T>G | CA503768759 | ASXL3 | c.2007T>G (p.Thr669=) c.2004T>G (p.Thr668=) c.*1128T>G (n.*1128T>G) c.*1663T>G (n.*1663T>G) c.2216T>G (n.2216T>G) c.1836T>G (p.Thr612=) c.1884T>G (p.Thr628=) c.1980T>G (p.Thr660=) c.1926T>G (p.Thr642=) c.1887T>G (p.Thr629=) | |
18 | g.33739408T= | CA2294855963 | ASXL3 | c.2007T= (p.Thr669=) c.2004T= (p.Thr668=) c.*1128T= (n.*1128T=) c.*1663T= (n.*1663T=) c.2216T= (n.2216T=) c.1836T= (p.Thr612=) c.1884T= (p.Thr628=) c.1980T= (p.Thr660=) c.1926T= (p.Thr642=) c.1887T= (p.Thr629=) | |
18 | g.33739411_33739413dup | CA2576484114 | ASXL3 | c.2010_2012dup (p.Asp670_Glu671insAsp) c.2007_2009dup (p.Asp669_Glu670insAsp) c.*1131_*1133dup (n.*1131_*1133dup) c.*1666_*1668dup (n.*1666_*1668dup) c.2219_2221dup (n.2219_2221dup) c.1839_1841dup (p.Asp613_Glu614insAsp) c.1887_1889dup (p.Asp629_Glu630insAsp) c.1983_1985dup (p.Asp661_Glu662insAsp) c.1929_1931dup (p.Asp643_Glu644insAsp) c.1890_1892dup (p.Asp630_Glu631insAsp) | |
18 | g.33739409G>A | CA402177063 | ASXL3 | c.2008G>A (p.Asp670Asn) c.2005G>A (p.Asp669Asn) c.*1129G>A (n.*1129G>A) c.*1664G>A (n.*1664G>A) c.2217G>A (n.2217G>A) c.1837G>A (p.Asp613Asn) c.1885G>A (p.Asp629Asn) c.1981G>A (p.Asp661Asn) c.1927G>A (p.Asp643Asn) c.1888G>A (p.Asp630Asn) | |
18 | g.33739409G>C | CA402177062 | ASXL3 | c.2008G>C (p.Asp670His) c.2005G>C (p.Asp669His) c.*1129G>C (n.*1129G>C) c.*1664G>C (n.*1664G>C) c.2217G>C (n.2217G>C) c.1837G>C (p.Asp613His) c.1885G>C (p.Asp629His) c.1981G>C (p.Asp661His) c.1927G>C (p.Asp643His) c.1888G>C (p.Asp630His) | |
18 | g.33739409G>T | CA402177061 | ASXL3 | c.2008G>T (p.Asp670Tyr) c.2005G>T (p.Asp669Tyr) c.*1129G>T (n.*1129G>T) c.*1664G>T (n.*1664G>T) c.2217G>T (n.2217G>T) c.1837G>T (p.Asp613Tyr) c.1885G>T (p.Asp629Tyr) c.1981G>T (p.Asp661Tyr) c.1927G>T (p.Asp643Tyr) c.1888G>T (p.Asp630Tyr) | |
18 | g.33739410A= | CA2294855964 | ASXL3 | c.2009A= (p.Asp670=) c.2006A= (p.Asp669=) c.*1130A= (n.*1130A=) c.*1665A= (n.*1665A=) c.2218A= (n.2218A=) c.1838A= (p.Asp613=) c.1886A= (p.Asp629=) c.1982A= (p.Asp661=) c.1928A= (p.Asp643=) c.1889A= (p.Asp630=) | |
18 | g.33739410A>C | CA402177064 | ASXL3 | c.2009A>C (p.Asp670Ala) c.2006A>C (p.Asp669Ala) c.*1130A>C (n.*1130A>C) c.*1665A>C (n.*1665A>C) c.2218A>C (n.2218A>C) c.1838A>C (p.Asp613Ala) c.1886A>C (p.Asp629Ala) c.1982A>C (p.Asp661Ala) c.1928A>C (p.Asp643Ala) c.1889A>C (p.Asp630Ala) | |
18 | g.33739410A>G | CA402177065 | ASXL3 | c.2009A>G (p.Asp670Gly) c.2006A>G (p.Asp669Gly) c.*1130A>G (n.*1130A>G) c.*1665A>G (n.*1665A>G) c.2218A>G (n.2218A>G) c.1838A>G (p.Asp613Gly) c.1886A>G (p.Asp629Gly) c.1982A>G (p.Asp661Gly) c.1928A>G (p.Asp643Gly) c.1889A>G (p.Asp630Gly) | dbSNP gnomAD v4 |
18 | g.33739410A>T | CA8933854 | ASXL3 | c.2009A>T (p.Asp670Val) c.2006A>T (p.Asp669Val) c.*1130A>T (n.*1130A>T) c.*1665A>T (n.*1665A>T) c.2218A>T (n.2218A>T) c.1838A>T (p.Asp613Val) c.1886A>T (p.Asp629Val) c.1982A>T (p.Asp661Val) c.1928A>T (p.Asp643Val) c.1889A>T (p.Asp630Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.33739411T>A | CA402177066 | ASXL3 | c.2010T>A (p.Asp670Glu) c.2007T>A (p.Asp669Glu) c.*1131T>A (n.*1131T>A) c.*1666T>A (n.*1666T>A) c.2219T>A (n.2219T>A) c.1839T>A (p.Asp613Glu) c.1887T>A (p.Asp629Glu) c.1983T>A (p.Asp661Glu) c.1929T>A (p.Asp643Glu) c.1890T>A (p.Asp630Glu) | |
18 | g.33739411T>C | CA503768766 | ASXL3 | c.2010T>C (p.Asp670=) c.2007T>C (p.Asp669=) c.*1131T>C (n.*1131T>C) c.*1666T>C (n.*1666T>C) c.2219T>C (n.2219T>C) c.1839T>C (p.Asp613=) c.1887T>C (p.Asp629=) c.1983T>C (p.Asp661=) c.1929T>C (p.Asp643=) c.1890T>C (p.Asp630=) | |
18 | g.33739411T>G | CA402177067 | ASXL3 | c.2010T>G (p.Asp670Glu) c.2007T>G (p.Asp669Glu) c.*1131T>G (n.*1131T>G) c.*1666T>G (n.*1666T>G) c.2219T>G (n.2219T>G) c.1839T>G (p.Asp613Glu) c.1887T>G (p.Asp629Glu) c.1983T>G (p.Asp661Glu) c.1929T>G (p.Asp643Glu) c.1890T>G (p.Asp630Glu) | |
18 | g.33739412G>A | CA402177068 | ASXL3 | c.2011G>A (p.Glu671Lys) c.2008G>A (p.Glu670Lys) c.*1132G>A (n.*1132G>A) c.*1667G>A (n.*1667G>A) c.2220G>A (n.2220G>A) c.1840G>A (p.Glu614Lys) c.1888G>A (p.Glu630Lys) c.1984G>A (p.Glu662Lys) c.1930G>A (p.Glu644Lys) c.1891G>A (p.Glu631Lys) | |
18 | g.33739412G>C | CA402177069 | ASXL3 | c.2011G>C (p.Glu671Gln) c.2008G>C (p.Glu670Gln) c.*1132G>C (n.*1132G>C) c.*1667G>C (n.*1667G>C) c.2220G>C (n.2220G>C) c.1840G>C (p.Glu614Gln) c.1888G>C (p.Glu630Gln) c.1984G>C (p.Glu662Gln) c.1930G>C (p.Glu644Gln) c.1891G>C (p.Glu631Gln) | |
18 | g.33739412G>T | CA402177070 | ASXL3 | c.2011G>T (p.Glu671Ter) c.2008G>T (p.Glu670Ter) c.*1132G>T (n.*1132G>T) c.*1667G>T (n.*1667G>T) c.2220G>T (n.2220G>T) c.1840G>T (p.Glu614Ter) c.1888G>T (p.Glu630Ter) c.1984G>T (p.Glu662Ter) c.1930G>T (p.Glu644Ter) c.1891G>T (p.Glu631Ter) | |
18 | g.33739413A>C | CA402177071 | ASXL3 | c.2012A>C (p.Glu671Ala) c.2009A>C (p.Glu670Ala) c.*1133A>C (n.*1133A>C) c.*1668A>C (n.*1668A>C) c.2221A>C (n.2221A>C) c.1841A>C (p.Glu614Ala) c.1889A>C (p.Glu630Ala) c.1985A>C (p.Glu662Ala) c.1931A>C (p.Glu644Ala) c.1892A>C (p.Glu631Ala) | |
18 | g.33739413A>G | CA402177072 | ASXL3 | c.2012A>G (p.Glu671Gly) c.2009A>G (p.Glu670Gly) c.*1133A>G (n.*1133A>G) c.*1668A>G (n.*1668A>G) c.2221A>G (n.2221A>G) c.1841A>G (p.Glu614Gly) c.1889A>G (p.Glu630Gly) c.1985A>G (p.Glu662Gly) c.1931A>G (p.Glu644Gly) c.1892A>G (p.Glu631Gly) | |
18 | g.33739413A>T | CA402177073 | ASXL3 | c.2012A>T (p.Glu671Val) c.2009A>T (p.Glu670Val) c.*1133A>T (n.*1133A>T) c.*1668A>T (n.*1668A>T) c.2221A>T (n.2221A>T) c.1841A>T (p.Glu614Val) c.1889A>T (p.Glu630Val) c.1985A>T (p.Glu662Val) c.1931A>T (p.Glu644Val) c.1892A>T (p.Glu631Val) | |
18 | g.33739414A>C | CA402177074 | ASXL3 | c.2013A>C (p.Glu671Asp) c.2010A>C (p.Glu670Asp) c.*1134A>C (n.*1134A>C) c.*1669A>C (n.*1669A>C) c.2222A>C (n.2222A>C) c.1842A>C (p.Glu614Asp) c.1890A>C (p.Glu630Asp) c.1986A>C (p.Glu662Asp) c.1932A>C (p.Glu644Asp) c.1893A>C (p.Glu631Asp) | |
18 | g.33739414A>G | CA503768770 | ASXL3 | c.2013A>G (p.Glu671=) c.2010A>G (p.Glu670=) c.*1134A>G (n.*1134A>G) c.*1669A>G (n.*1669A>G) c.2222A>G (n.2222A>G) c.1842A>G (p.Glu614=) c.1890A>G (p.Glu630=) c.1986A>G (p.Glu662=) c.1932A>G (p.Glu644=) c.1893A>G (p.Glu631=) | |
18 | g.33739414A>T | CA402177075 | ASXL3 | c.2013A>T (p.Glu671Asp) c.2010A>T (p.Glu670Asp) c.*1134A>T (n.*1134A>T) c.*1669A>T (n.*1669A>T) c.2222A>T (n.2222A>T) c.1842A>T (p.Glu614Asp) c.1890A>T (p.Glu630Asp) c.1986A>T (p.Glu662Asp) c.1932A>T (p.Glu644Asp) c.1893A>T (p.Glu631Asp) | |
18 | g.33739415A>C | CA402177077 | ASXL3 | c.2014A>C (p.Asn672His) c.2011A>C (p.Asn671His) c.*1135A>C (n.*1135A>C) c.*1670A>C (n.*1670A>C) c.2223A>C (n.2223A>C) c.1843A>C (p.Asn615His) c.1891A>C (p.Asn631His) c.1987A>C (p.Asn663His) c.1933A>C (p.Asn645His) c.1894A>C (p.Asn632His) | |
18 | g.33739415A>G | CA402177078 | ASXL3 | c.2014A>G (p.Asn672Asp) c.2011A>G (p.Asn671Asp) c.*1135A>G (n.*1135A>G) c.*1670A>G (n.*1670A>G) c.2223A>G (n.2223A>G) c.1843A>G (p.Asn615Asp) c.1891A>G (p.Asn631Asp) c.1987A>G (p.Asn663Asp) c.1933A>G (p.Asn645Asp) c.1894A>G (p.Asn632Asp) | |
18 | g.33739415A>T | CA402177076 | ASXL3 | c.2014A>T (p.Asn672Tyr) c.2011A>T (p.Asn671Tyr) c.*1135A>T (n.*1135A>T) c.*1670A>T (n.*1670A>T) c.2223A>T (n.2223A>T) c.1843A>T (p.Asn615Tyr) c.1891A>T (p.Asn631Tyr) c.1987A>T (p.Asn663Tyr) c.1933A>T (p.Asn645Tyr) c.1894A>T (p.Asn632Tyr) | |
18 | g.33739416A>C | CA402177079 | ASXL3 | c.2015A>C (p.Asn672Thr) c.2012A>C (p.Asn671Thr) c.*1136A>C (n.*1136A>C) c.*1671A>C (n.*1671A>C) c.2224A>C (n.2224A>C) c.1844A>C (p.Asn615Thr) c.1892A>C (p.Asn631Thr) c.1988A>C (p.Asn663Thr) c.1934A>C (p.Asn645Thr) c.1895A>C (p.Asn632Thr) |