Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53250664G>A | CA413162863 | IQSEC2 | c.2071C>T (p.Pro691Ser) c.1912C>T (p.Pro638Ser) c.1882C>T (p.Pro628Ser) c.1297C>T (p.Pro433Ser) c.2008C>T (p.Pro670Ser) c.1234C>T (p.Pro412Ser) c.1201C>T (p.Pro401Ser) n.2235C>T c.1414C>T (p.Pro472Ser) n.2229C>T | |
X | g.53250664G>C | CA413162865 | IQSEC2 | c.2071C>G (p.Pro691Ala) c.1912C>G (p.Pro638Ala) c.1882C>G (p.Pro628Ala) c.1297C>G (p.Pro433Ala) c.2008C>G (p.Pro670Ala) c.1234C>G (p.Pro412Ala) c.1201C>G (p.Pro401Ala) n.2235C>G c.1414C>G (p.Pro472Ala) n.2229C>G | |
X | g.53250664G>T | CA413162867 | IQSEC2 | c.2071C>A (p.Pro691Thr) c.1912C>A (p.Pro638Thr) c.1882C>A (p.Pro628Thr) c.1297C>A (p.Pro433Thr) c.2008C>A (p.Pro670Thr) c.1234C>A (p.Pro412Thr) c.1201C>A (p.Pro401Thr) n.2235C>A c.1414C>A (p.Pro472Thr) n.2229C>A | |
X | g.53250665T>A | CA516673980 | IQSEC2 | c.2070A>T (p.Pro690=) c.1911A>T (p.Pro637=) c.1881A>T (p.Pro627=) c.1296A>T (p.Pro432=) c.2007A>T (p.Pro669=) c.1233A>T (p.Pro411=) c.1200A>T (p.Pro400=) n.2234A>T c.1413A>T (p.Pro471=) n.2228A>T | |
X | g.53250665T>C | CA516673981 | IQSEC2 | c.2070A>G (p.Pro690=) c.1911A>G (p.Pro637=) c.1881A>G (p.Pro627=) c.1296A>G (p.Pro432=) c.2007A>G (p.Pro669=) c.1233A>G (p.Pro411=) c.1200A>G (p.Pro400=) n.2234A>G c.1413A>G (p.Pro471=) n.2228A>G | |
X | g.53250665T>G | CA516673982 | IQSEC2 | c.2070A>C (p.Pro690=) c.1911A>C (p.Pro637=) c.1881A>C (p.Pro627=) c.1296A>C (p.Pro432=) c.2007A>C (p.Pro669=) c.1233A>C (p.Pro411=) c.1200A>C (p.Pro400=) n.2234A>C c.1413A>C (p.Pro471=) n.2228A>C | ClinVar |
X | g.53250666G>A | CA413162869 | IQSEC2 | c.2069C>T (p.Pro690Leu) c.1910C>T (p.Pro637Leu) c.1880C>T (p.Pro627Leu) c.1295C>T (p.Pro432Leu) c.2006C>T (p.Pro669Leu) c.1232C>T (p.Pro411Leu) c.1199C>T (p.Pro400Leu) n.2233C>T c.1412C>T (p.Pro471Leu) n.2227C>T | dbSNP gnomAD v4 |
X | g.53250666G>C | CA413162870 | IQSEC2 | c.2069C>G (p.Pro690Arg) c.1910C>G (p.Pro637Arg) c.1880C>G (p.Pro627Arg) c.1295C>G (p.Pro432Arg) c.2006C>G (p.Pro669Arg) c.1232C>G (p.Pro411Arg) c.1199C>G (p.Pro400Arg) n.2233C>G c.1412C>G (p.Pro471Arg) n.2227C>G | |
X | g.53250666G= | CA2429775603 | IQSEC2 | c.2069C= (p.Pro690=) c.1910C= (p.Pro637=) c.1880C= (p.Pro627=) c.1295C= (p.Pro432=) c.2006C= (p.Pro669=) c.1232C= (p.Pro411=) c.1199C= (p.Pro400=) n.2233C= c.1412C= (p.Pro471=) n.2227C= | |
X | g.53250666G>T | CA413162871 | IQSEC2 | c.2069C>A (p.Pro690Gln) c.1910C>A (p.Pro637Gln) c.1880C>A (p.Pro627Gln) c.1295C>A (p.Pro432Gln) c.2006C>A (p.Pro669Gln) c.1232C>A (p.Pro411Gln) c.1199C>A (p.Pro400Gln) n.2233C>A c.1412C>A (p.Pro471Gln) n.2227C>A | |
X | g.53250667G>A | CA413162873 | IQSEC2 | c.2068C>T (p.Pro690Ser) c.1909C>T (p.Pro637Ser) c.1879C>T (p.Pro627Ser) c.1294C>T (p.Pro432Ser) c.2005C>T (p.Pro669Ser) c.1231C>T (p.Pro411Ser) c.1198C>T (p.Pro400Ser) n.2232C>T c.1411C>T (p.Pro471Ser) n.2226C>T | dbSNP gnomAD v4 |
X | g.53250667G>C | CA413162875 | IQSEC2 | c.2068C>G (p.Pro690Ala) c.1909C>G (p.Pro637Ala) c.1879C>G (p.Pro627Ala) c.1294C>G (p.Pro432Ala) c.2005C>G (p.Pro669Ala) c.1231C>G (p.Pro411Ala) c.1198C>G (p.Pro400Ala) n.2232C>G c.1411C>G (p.Pro471Ala) n.2226C>G | |
X | g.53250667G= | CA2429775604 | IQSEC2 | c.2068C= (p.Pro690=) c.1909C= (p.Pro637=) c.1879C= (p.Pro627=) c.1294C= (p.Pro432=) c.2005C= (p.Pro669=) c.1231C= (p.Pro411=) c.1198C= (p.Pro400=) n.2232C= c.1411C= (p.Pro471=) n.2226C= | |
X | g.53250667G>T | CA413162877 | IQSEC2 | c.2068C>A (p.Pro690Thr) c.1909C>A (p.Pro637Thr) c.1879C>A (p.Pro627Thr) c.1294C>A (p.Pro432Thr) c.2005C>A (p.Pro669Thr) c.1231C>A (p.Pro411Thr) c.1198C>A (p.Pro400Thr) n.2232C>A c.1411C>A (p.Pro471Thr) n.2226C>A | |
X | g.53250668C>A | CA516673984 | IQSEC2 | c.2067G>T (p.Gly689=) c.1908G>T (p.Gly636=) c.1878G>T (p.Gly626=) c.1293G>T (p.Gly431=) c.2004G>T (p.Gly668=) c.1230G>T (p.Gly410=) c.1197G>T (p.Gly399=) n.2231G>T c.1410G>T (p.Gly470=) n.2225G>T | COSMIC COSMIC COSMIC |
X | g.53250668C= | CA2429775605 | IQSEC2 | c.2067G= (p.Gly689=) c.1908G= (p.Gly636=) c.1878G= (p.Gly626=) c.1293G= (p.Gly431=) c.2004G= (p.Gly668=) c.1230G= (p.Gly410=) c.1197G= (p.Gly399=) n.2231G= c.1410G= (p.Gly470=) n.2225G= | |
X | g.53250668C>G | CA516673985 | IQSEC2 | c.2067G>C (p.Gly689=) c.1908G>C (p.Gly636=) c.1878G>C (p.Gly626=) c.1293G>C (p.Gly431=) c.2004G>C (p.Gly668=) c.1230G>C (p.Gly410=) c.1197G>C (p.Gly399=) n.2231G>C c.1410G>C (p.Gly470=) n.2225G>C | |
X | g.53250668C>T | CA516673987 | IQSEC2 | c.2067G>A (p.Gly689=) c.1908G>A (p.Gly636=) c.1878G>A (p.Gly626=) c.1293G>A (p.Gly431=) c.2004G>A (p.Gly668=) c.1230G>A (p.Gly410=) c.1197G>A (p.Gly399=) n.2231G>A c.1410G>A (p.Gly470=) n.2225G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53250671dup | CA2839054031 | IQSEC2 | c.2067dup (p.Pro690AlafsTer16) c.1908dup (p.Pro637AlafsTer16) c.1878dup (p.Pro627AlafsTer16) c.1293dup (p.Pro432AlafsTer16) c.2004dup (p.Pro669AlafsTer16) c.1230dup (p.Pro411AlafsTer16) c.1197dup (p.Pro400AlafsTer16) n.2231dup c.1410dup (p.Pro471AlafsTer16) n.2225dup | |
X | g.53250669C>A | CA413162879 | IQSEC2 | c.2066G>T (p.Gly689Val) c.1907G>T (p.Gly636Val) c.1877G>T (p.Gly626Val) c.1292G>T (p.Gly431Val) c.2003G>T (p.Gly668Val) c.1229G>T (p.Gly410Val) c.1196G>T (p.Gly399Val) n.2230G>T c.1409G>T (p.Gly470Val) n.2224G>T | ClinVar dbSNP gnomAD v4 |
X | g.53250669C= | CA2429775606 | IQSEC2 | c.2066G= (p.Gly689=) c.1907G= (p.Gly636=) c.1877G= (p.Gly626=) c.1292G= (p.Gly431=) c.2003G= (p.Gly668=) c.1229G= (p.Gly410=) c.1196G= (p.Gly399=) n.2230G= c.1409G= (p.Gly470=) n.2224G= | |
X | g.53250669C>G | CA413162881 | IQSEC2 | c.2066G>C (p.Gly689Ala) c.1907G>C (p.Gly636Ala) c.1877G>C (p.Gly626Ala) c.1292G>C (p.Gly431Ala) c.2003G>C (p.Gly668Ala) c.1229G>C (p.Gly410Ala) c.1196G>C (p.Gly399Ala) n.2230G>C c.1409G>C (p.Gly470Ala) n.2224G>C | |
X | g.53250669C>T | CA413162882 | IQSEC2 | c.2066G>A (p.Gly689Glu) c.1907G>A (p.Gly636Glu) c.1877G>A (p.Gly626Glu) c.1292G>A (p.Gly431Glu) c.2003G>A (p.Gly668Glu) c.1229G>A (p.Gly410Glu) c.1196G>A (p.Gly399Glu) n.2230G>A c.1409G>A (p.Gly470Glu) n.2224G>A | dbSNP |
X | g.53250670C>A | CA10419996 | IQSEC2 | c.2065G>T (p.Gly689Trp) c.1906G>T (p.Gly636Trp) c.1876G>T (p.Gly626Trp) c.1291G>T (p.Gly431Trp) c.2002G>T (p.Gly668Trp) c.1228G>T (p.Gly410Trp) c.1195G>T (p.Gly399Trp) n.2229G>T c.1408G>T (p.Gly470Trp) n.2223G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53250670C= | CA2429775607 | IQSEC2 | c.2065G= (p.Gly689=) c.1906G= (p.Gly636=) c.1876G= (p.Gly626=) c.1291G= (p.Gly431=) c.2002G= (p.Gly668=) c.1228G= (p.Gly410=) c.1195G= (p.Gly399=) n.2229G= c.1408G= (p.Gly470=) n.2223G= | |
X | g.53250670C>G | CA413162886 | IQSEC2 | c.2065G>C (p.Gly689Arg) c.1906G>C (p.Gly636Arg) c.1876G>C (p.Gly626Arg) c.1291G>C (p.Gly431Arg) c.2002G>C (p.Gly668Arg) c.1228G>C (p.Gly410Arg) c.1195G>C (p.Gly399Arg) n.2229G>C c.1408G>C (p.Gly470Arg) n.2223G>C | |
X | g.53250670C>T | CA413162884 | IQSEC2 | c.2065G>A (p.Gly689Arg) c.1906G>A (p.Gly636Arg) c.1876G>A (p.Gly626Arg) c.1291G>A (p.Gly431Arg) c.2002G>A (p.Gly668Arg) c.1228G>A (p.Gly410Arg) c.1195G>A (p.Gly399Arg) n.2229G>A c.1408G>A (p.Gly470Arg) n.2223G>A | |
X | g.53250671C>A | CA413162888 | IQSEC2 | c.2064G>T (p.Lys688Asn) c.1905G>T (p.Lys635Asn) c.1875G>T (p.Lys625Asn) c.1290G>T (p.Lys430Asn) c.2001G>T (p.Lys667Asn) c.1227G>T (p.Lys409Asn) c.1194G>T (p.Lys398Asn) n.2228G>T c.1407G>T (p.Lys469Asn) n.2222G>T | |
X | g.53250671C>G | CA413162889 | IQSEC2 | c.2064G>C (p.Lys688Asn) c.1905G>C (p.Lys635Asn) c.1875G>C (p.Lys625Asn) c.1290G>C (p.Lys430Asn) c.2001G>C (p.Lys667Asn) c.1227G>C (p.Lys409Asn) c.1194G>C (p.Lys398Asn) n.2228G>C c.1407G>C (p.Lys469Asn) n.2222G>C | gnomAD v4 |
X | g.53250671C>T | CA516673992 | IQSEC2 | c.2064G>A (p.Lys688=) c.1905G>A (p.Lys635=) c.1875G>A (p.Lys625=) c.1290G>A (p.Lys430=) c.2001G>A (p.Lys667=) c.1227G>A (p.Lys409=) c.1194G>A (p.Lys398=) n.2228G>A c.1407G>A (p.Lys469=) n.2222G>A | |
X | g.53250672T>A | CA413162891 | IQSEC2 | c.2063A>T (p.Lys688Met) c.1904A>T (p.Lys635Met) c.1874A>T (p.Lys625Met) c.1289A>T (p.Lys430Met) c.2000A>T (p.Lys667Met) c.1226A>T (p.Lys409Met) c.1193A>T (p.Lys398Met) n.2227A>T c.1406A>T (p.Lys469Met) n.2221A>T | |
X | g.53250672T>C | CA413162893 | IQSEC2 | c.2063A>G (p.Lys688Arg) c.1904A>G (p.Lys635Arg) c.1874A>G (p.Lys625Arg) c.1289A>G (p.Lys430Arg) c.2000A>G (p.Lys667Arg) c.1226A>G (p.Lys409Arg) c.1193A>G (p.Lys398Arg) n.2227A>G c.1406A>G (p.Lys469Arg) n.2221A>G | gnomAD v4 |
X | g.53250672T>G | CA413162895 | IQSEC2 | c.2063A>C (p.Lys688Thr) c.1904A>C (p.Lys635Thr) c.1874A>C (p.Lys625Thr) c.1289A>C (p.Lys430Thr) c.2000A>C (p.Lys667Thr) c.1226A>C (p.Lys409Thr) c.1193A>C (p.Lys398Thr) n.2227A>C c.1406A>C (p.Lys469Thr) n.2221A>C | |
X | g.53250673T>A | CA413162901 | IQSEC2 | c.2062A>T (p.Lys688Ter) c.1903A>T (p.Lys635Ter) c.1873A>T (p.Lys625Ter) c.1288A>T (p.Lys430Ter) c.1999A>T (p.Lys667Ter) c.1225A>T (p.Lys409Ter) c.1192A>T (p.Lys398Ter) n.2226A>T c.1405A>T (p.Lys469Ter) n.2220A>T | |
X | g.53250673T>C | CA413162897 | IQSEC2 | c.2062A>G (p.Lys688Glu) c.1903A>G (p.Lys635Glu) c.1873A>G (p.Lys625Glu) c.1288A>G (p.Lys430Glu) c.1999A>G (p.Lys667Glu) c.1225A>G (p.Lys409Glu) c.1192A>G (p.Lys398Glu) n.2226A>G c.1405A>G (p.Lys469Glu) n.2220A>G | gnomAD v4 |
X | g.53250673T>G | CA413162899 | IQSEC2 | c.2062A>C (p.Lys688Gln) c.1903A>C (p.Lys635Gln) c.1873A>C (p.Lys625Gln) c.1288A>C (p.Lys430Gln) c.1999A>C (p.Lys667Gln) c.1225A>C (p.Lys409Gln) c.1192A>C (p.Lys398Gln) n.2226A>C c.1405A>C (p.Lys469Gln) n.2220A>C | gnomAD v4 |
X | g.53250674G>A | CA516673997 | IQSEC2 | c.2061C>T (p.His687=) c.1902C>T (p.His634=) c.1872C>T (p.His624=) c.1287C>T (p.His429=) c.1998C>T (p.His666=) c.1224C>T (p.His408=) c.1191C>T (p.His397=) n.2225C>T c.1404C>T (p.His468=) n.2219C>T | COSMIC COSMIC |
X | g.53250674G>C | CA413162903 | IQSEC2 | c.2061C>G (p.His687Gln) c.1902C>G (p.His634Gln) c.1872C>G (p.His624Gln) c.1287C>G (p.His429Gln) c.1998C>G (p.His666Gln) c.1224C>G (p.His408Gln) c.1191C>G (p.His397Gln) n.2225C>G c.1404C>G (p.His468Gln) n.2219C>G | |
X | g.53250674G>T | CA413162905 | IQSEC2 | c.2061C>A (p.His687Gln) c.1902C>A (p.His634Gln) c.1872C>A (p.His624Gln) c.1287C>A (p.His429Gln) c.1998C>A (p.His666Gln) c.1224C>A (p.His408Gln) c.1191C>A (p.His397Gln) n.2225C>A c.1404C>A (p.His468Gln) n.2219C>A | |
X | g.53250675T>A | CA413162906 | IQSEC2 | c.2060A>T (p.His687Leu) c.1901A>T (p.His634Leu) c.1871A>T (p.His624Leu) c.1286A>T (p.His429Leu) c.1997A>T (p.His666Leu) c.1223A>T (p.His408Leu) c.1190A>T (p.His397Leu) n.2224A>T c.1403A>T (p.His468Leu) n.2218A>T | |
X | g.53250675T>C | CA413162908 | IQSEC2 | c.2060A>G (p.His687Arg) c.1901A>G (p.His634Arg) c.1871A>G (p.His624Arg) c.1286A>G (p.His429Arg) c.1997A>G (p.His666Arg) c.1223A>G (p.His408Arg) c.1190A>G (p.His397Arg) n.2224A>G c.1403A>G (p.His468Arg) n.2218A>G | |
X | g.53250675T>G | CA413162909 | IQSEC2 | c.2060A>C (p.His687Pro) c.1901A>C (p.His634Pro) c.1871A>C (p.His624Pro) c.1286A>C (p.His429Pro) c.1997A>C (p.His666Pro) c.1223A>C (p.His408Pro) c.1190A>C (p.His397Pro) n.2224A>C c.1403A>C (p.His468Pro) n.2218A>C | |
X | g.53250676G>A | CA413162912 | IQSEC2 | c.2059C>T (p.His687Tyr) c.1900C>T (p.His634Tyr) c.1870C>T (p.His624Tyr) c.1285C>T (p.His429Tyr) c.1996C>T (p.His666Tyr) c.1222C>T (p.His408Tyr) c.1189C>T (p.His397Tyr) n.2223C>T c.1402C>T (p.His468Tyr) n.2217C>T | |
X | g.53250676G>C | CA413162915 | IQSEC2 | c.2059C>G (p.His687Asp) c.1900C>G (p.His634Asp) c.1870C>G (p.His624Asp) c.1285C>G (p.His429Asp) c.1996C>G (p.His666Asp) c.1222C>G (p.His408Asp) c.1189C>G (p.His397Asp) n.2223C>G c.1402C>G (p.His468Asp) n.2217C>G | |
X | g.53250676G>T | CA413162913 | IQSEC2 | c.2059C>A (p.His687Asn) c.1900C>A (p.His634Asn) c.1870C>A (p.His624Asn) c.1285C>A (p.His429Asn) c.1996C>A (p.His666Asn) c.1222C>A (p.His408Asn) c.1189C>A (p.His397Asn) n.2223C>A c.1402C>A (p.His468Asn) n.2217C>A | gnomAD v4 |
X | g.53250677C>A | CA413162918 | IQSEC2 | c.2058G>T (p.Lys686Asn) c.1899G>T (p.Lys633Asn) c.1869G>T (p.Lys623Asn) c.1284G>T (p.Lys428Asn) c.1995G>T (p.Lys665Asn) c.1221G>T (p.Lys407Asn) c.1188G>T (p.Lys396Asn) n.2222G>T c.1401G>T (p.Lys467Asn) n.2216G>T | |
X | g.53250677C= | CA2429775608 | IQSEC2 | c.2058G= (p.Lys686=) c.1899G= (p.Lys633=) c.1869G= (p.Lys623=) c.1284G= (p.Lys428=) c.1995G= (p.Lys665=) c.1221G= (p.Lys407=) c.1188G= (p.Lys396=) n.2222G= c.1401G= (p.Lys467=) n.2216G= | |
X | g.53250677C>G | CA413162919 | IQSEC2 | c.2058G>C (p.Lys686Asn) c.1899G>C (p.Lys633Asn) c.1869G>C (p.Lys623Asn) c.1284G>C (p.Lys428Asn) c.1995G>C (p.Lys665Asn) c.1221G>C (p.Lys407Asn) c.1188G>C (p.Lys396Asn) n.2222G>C c.1401G>C (p.Lys467Asn) n.2216G>C | |
X | g.53250677C>T | CA516674002 | IQSEC2 | c.2058G>A (p.Lys686=) c.1899G>A (p.Lys633=) c.1869G>A (p.Lys623=) c.1284G>A (p.Lys428=) c.1995G>A (p.Lys665=) c.1221G>A (p.Lys407=) c.1188G>A (p.Lys396=) n.2222G>A c.1401G>A (p.Lys467=) n.2216G>A | dbSNP |
X | g.53250678T>A | CA413162920 | IQSEC2 | c.2057A>T (p.Lys686Met) c.1898A>T (p.Lys633Met) c.1868A>T (p.Lys623Met) c.1283A>T (p.Lys428Met) c.1994A>T (p.Lys665Met) c.1220A>T (p.Lys407Met) c.1187A>T (p.Lys396Met) n.2221A>T c.1400A>T (p.Lys467Met) n.2215A>T | |
X | g.53250678T>C | CA413162921 | IQSEC2 | c.2057A>G (p.Lys686Arg) c.1898A>G (p.Lys633Arg) c.1868A>G (p.Lys623Arg) c.1283A>G (p.Lys428Arg) c.1994A>G (p.Lys665Arg) c.1220A>G (p.Lys407Arg) c.1187A>G (p.Lys396Arg) n.2221A>G c.1400A>G (p.Lys467Arg) n.2215A>G | |
X | g.53250678T>G | CA413162923 | IQSEC2 | c.2057A>C (p.Lys686Thr) c.1898A>C (p.Lys633Thr) c.1868A>C (p.Lys623Thr) c.1283A>C (p.Lys428Thr) c.1994A>C (p.Lys665Thr) c.1220A>C (p.Lys407Thr) c.1187A>C (p.Lys396Thr) n.2221A>C c.1400A>C (p.Lys467Thr) n.2215A>C | gnomAD v4 |
X | g.53250679T>A | CA413162925 | IQSEC2 | c.2056A>T (p.Lys686Ter) c.1897A>T (p.Lys633Ter) c.1867A>T (p.Lys623Ter) c.1282A>T (p.Lys428Ter) c.1993A>T (p.Lys665Ter) c.1219A>T (p.Lys407Ter) c.1186A>T (p.Lys396Ter) n.2220A>T c.1399A>T (p.Lys467Ter) n.2214A>T | |
X | g.53250679T>C | CA413162926 | IQSEC2 | c.2056A>G (p.Lys686Glu) c.1897A>G (p.Lys633Glu) c.1867A>G (p.Lys623Glu) c.1282A>G (p.Lys428Glu) c.1993A>G (p.Lys665Glu) c.1219A>G (p.Lys407Glu) c.1186A>G (p.Lys396Glu) n.2220A>G c.1399A>G (p.Lys467Glu) n.2214A>G | |
X | g.53250679T>G | CA413162928 | IQSEC2 | c.2056A>C (p.Lys686Gln) c.1897A>C (p.Lys633Gln) c.1867A>C (p.Lys623Gln) c.1282A>C (p.Lys428Gln) c.1993A>C (p.Lys665Gln) c.1219A>C (p.Lys407Gln) c.1186A>C (p.Lys396Gln) n.2220A>C c.1399A>C (p.Lys467Gln) n.2214A>C | |
X | g.53250680C>A | CA329166141 | IQSEC2 | c.2055G>T (p.Leu685=) c.1896G>T (p.Leu632=) c.1866G>T (p.Leu622=) c.1281G>T (p.Leu427=) c.1992G>T (p.Leu664=) c.1218G>T (p.Leu406=) c.1185G>T (p.Leu395=) n.2219G>T c.1398G>T (p.Leu466=) n.2213G>T | dbSNP |
X | g.53250680C= | CA2429775609 | IQSEC2 | c.2055G= (p.Leu685=) c.1896G= (p.Leu632=) c.1866G= (p.Leu622=) c.1281G= (p.Leu427=) c.1992G= (p.Leu664=) c.1218G= (p.Leu406=) c.1185G= (p.Leu395=) n.2219G= c.1398G= (p.Leu466=) n.2213G= | |
X | g.53250680C>G | CA516674010 | IQSEC2 | c.2055G>C (p.Leu685=) c.1896G>C (p.Leu632=) c.1866G>C (p.Leu622=) c.1281G>C (p.Leu427=) c.1992G>C (p.Leu664=) c.1218G>C (p.Leu406=) c.1185G>C (p.Leu395=) n.2219G>C c.1398G>C (p.Leu466=) n.2213G>C | |
X | g.53250680C>T | CA516674008 | IQSEC2 | c.2055G>A (p.Leu685=) c.1896G>A (p.Leu632=) c.1866G>A (p.Leu622=) c.1281G>A (p.Leu427=) c.1992G>A (p.Leu664=) c.1218G>A (p.Leu406=) c.1185G>A (p.Leu395=) n.2219G>A c.1398G>A (p.Leu466=) n.2213G>A | |
X | g.53250681A>C | CA413162932 | IQSEC2 | c.2054T>G (p.Leu685Arg) c.1895T>G (p.Leu632Arg) c.1865T>G (p.Leu622Arg) c.1280T>G (p.Leu427Arg) c.1991T>G (p.Leu664Arg) c.1217T>G (p.Leu406Arg) c.1184T>G (p.Leu395Arg) n.2218T>G c.1397T>G (p.Leu466Arg) n.2212T>G | |
X | g.53250681A>G | CA413162933 | IQSEC2 | c.2054T>C (p.Leu685Pro) c.1895T>C (p.Leu632Pro) c.1865T>C (p.Leu622Pro) c.1280T>C (p.Leu427Pro) c.1991T>C (p.Leu664Pro) c.1217T>C (p.Leu406Pro) c.1184T>C (p.Leu395Pro) n.2218T>C c.1397T>C (p.Leu466Pro) n.2212T>C | |
X | g.53250681A>T | CA413162934 | IQSEC2 | c.2054T>A (p.Leu685Gln) c.1895T>A (p.Leu632Gln) c.1865T>A (p.Leu622Gln) c.1280T>A (p.Leu427Gln) c.1991T>A (p.Leu664Gln) c.1217T>A (p.Leu406Gln) c.1184T>A (p.Leu395Gln) n.2218T>A c.1397T>A (p.Leu466Gln) n.2212T>A | |
X | g.53250682G>A | CA516674013 | IQSEC2 | c.2053C>T (p.Leu685=) c.1894C>T (p.Leu632=) c.1864C>T (p.Leu622=) c.1279C>T (p.Leu427=) c.1990C>T (p.Leu664=) c.1216C>T (p.Leu406=) c.1183C>T (p.Leu395=) n.2217C>T c.1396C>T (p.Leu466=) n.2211C>T | |
X | g.53250682G>C | CA413162937 | IQSEC2 | c.2053C>G (p.Leu685Val) c.1894C>G (p.Leu632Val) c.1864C>G (p.Leu622Val) c.1279C>G (p.Leu427Val) c.1990C>G (p.Leu664Val) c.1216C>G (p.Leu406Val) c.1183C>G (p.Leu395Val) n.2217C>G c.1396C>G (p.Leu466Val) n.2211C>G | |
X | g.53250682G>T | CA413162938 | IQSEC2 | c.2053C>A (p.Leu685Met) c.1894C>A (p.Leu632Met) c.1864C>A (p.Leu622Met) c.1279C>A (p.Leu427Met) c.1990C>A (p.Leu664Met) c.1216C>A (p.Leu406Met) c.1183C>A (p.Leu395Met) n.2217C>A c.1396C>A (p.Leu466Met) n.2211C>A | |
X | g.53250683G>A | CA516674018 | IQSEC2 | c.2052C>T (p.Thr684=) c.1893C>T (p.Thr631=) c.1863C>T (p.Thr621=) c.1278C>T (p.Thr426=) c.1989C>T (p.Thr663=) c.1215C>T (p.Thr405=) c.1182C>T (p.Thr394=) n.2216C>T c.1395C>T (p.Thr465=) n.2210C>T | |
X | g.53250683G>C | CA516674019 | IQSEC2 | c.2052C>G (p.Thr684=) c.1893C>G (p.Thr631=) c.1863C>G (p.Thr621=) c.1278C>G (p.Thr426=) c.1989C>G (p.Thr663=) c.1215C>G (p.Thr405=) c.1182C>G (p.Thr394=) n.2216C>G c.1395C>G (p.Thr465=) n.2210C>G | |
X | g.53250683G= | CA2429775610 | IQSEC2 | c.2052C= (p.Thr684=) c.1893C= (p.Thr631=) c.1863C= (p.Thr621=) c.1278C= (p.Thr426=) c.1989C= (p.Thr663=) c.1215C= (p.Thr405=) c.1182C= (p.Thr394=) n.2216C= c.1395C= (p.Thr465=) n.2210C= | |
X | g.53250683G>T | CA516674020 | IQSEC2 | c.2052C>A (p.Thr684=) c.1893C>A (p.Thr631=) c.1863C>A (p.Thr621=) c.1278C>A (p.Thr426=) c.1989C>A (p.Thr663=) c.1215C>A (p.Thr405=) c.1182C>A (p.Thr394=) n.2216C>A c.1395C>A (p.Thr465=) n.2210C>A | ClinVar dbSNP |
X | g.53250684G>A | CA413162944 | IQSEC2 | c.2051C>T (p.Thr684Ile) c.1892C>T (p.Thr631Ile) c.1862C>T (p.Thr621Ile) c.1277C>T (p.Thr426Ile) c.1988C>T (p.Thr663Ile) c.1214C>T (p.Thr405Ile) c.1181C>T (p.Thr394Ile) n.2215C>T c.1394C>T (p.Thr465Ile) n.2209C>T | ClinVar |
X | g.53250684G>C | CA413162940 | IQSEC2 | c.2051C>G (p.Thr684Ser) c.1892C>G (p.Thr631Ser) c.1862C>G (p.Thr621Ser) c.1277C>G (p.Thr426Ser) c.1988C>G (p.Thr663Ser) c.1214C>G (p.Thr405Ser) c.1181C>G (p.Thr394Ser) n.2215C>G c.1394C>G (p.Thr465Ser) n.2209C>G | |
X | g.53250684G>T | CA413162942 | IQSEC2 | c.2051C>A (p.Thr684Asn) c.1892C>A (p.Thr631Asn) c.1862C>A (p.Thr621Asn) c.1277C>A (p.Thr426Asn) c.1988C>A (p.Thr663Asn) c.1214C>A (p.Thr405Asn) c.1181C>A (p.Thr394Asn) n.2215C>A c.1394C>A (p.Thr465Asn) n.2209C>A | |
X | g.53250685T>A | CA413162946 | IQSEC2 | c.2050A>T (p.Thr684Ser) c.1891A>T (p.Thr631Ser) c.1861A>T (p.Thr621Ser) c.1276A>T (p.Thr426Ser) c.1987A>T (p.Thr663Ser) c.1213A>T (p.Thr405Ser) c.1180A>T (p.Thr394Ser) n.2214A>T c.1393A>T (p.Thr465Ser) n.2208A>T | |
X | g.53250685T>C | CA413162947 | IQSEC2 | c.2050A>G (p.Thr684Ala) c.1891A>G (p.Thr631Ala) c.1861A>G (p.Thr621Ala) c.1276A>G (p.Thr426Ala) c.1987A>G (p.Thr663Ala) c.1213A>G (p.Thr405Ala) c.1180A>G (p.Thr394Ala) n.2214A>G c.1393A>G (p.Thr465Ala) n.2208A>G | |
X | g.53250685T>G | CA413162949 | IQSEC2 | c.2050A>C (p.Thr684Pro) c.1891A>C (p.Thr631Pro) c.1861A>C (p.Thr621Pro) c.1276A>C (p.Thr426Pro) c.1987A>C (p.Thr663Pro) c.1213A>C (p.Thr405Pro) c.1180A>C (p.Thr394Pro) n.2214A>C c.1393A>C (p.Thr465Pro) n.2208A>C | |
X | g.53250686C>A | CA516674026 | IQSEC2 | c.2049G>T (p.Gly683=) c.1890G>T (p.Gly630=) c.1860G>T (p.Gly620=) c.1275G>T (p.Gly425=) c.1986G>T (p.Gly662=) c.1212G>T (p.Gly404=) c.1179G>T (p.Gly393=) n.2213G>T c.1392G>T (p.Gly464=) n.2207G>T | |
X | g.53250686C>G | CA516674027 | IQSEC2 | c.2049G>C (p.Gly683=) c.1890G>C (p.Gly630=) c.1860G>C (p.Gly620=) c.1275G>C (p.Gly425=) c.1986G>C (p.Gly662=) c.1212G>C (p.Gly404=) c.1179G>C (p.Gly393=) n.2213G>C c.1392G>C (p.Gly464=) n.2207G>C | |
X | g.53250686C>T | CA516674029 | IQSEC2 | c.2049G>A (p.Gly683=) c.1890G>A (p.Gly630=) c.1860G>A (p.Gly620=) c.1275G>A (p.Gly425=) c.1986G>A (p.Gly662=) c.1212G>A (p.Gly404=) c.1179G>A (p.Gly393=) n.2213G>A c.1392G>A (p.Gly464=) n.2207G>A | |
X | g.53250687C>A | CA413162951 | IQSEC2 | c.2048G>T (p.Gly683Val) c.1889G>T (p.Gly630Val) c.1859G>T (p.Gly620Val) c.1274G>T (p.Gly425Val) c.1985G>T (p.Gly662Val) c.1211G>T (p.Gly404Val) c.1178G>T (p.Gly393Val) n.2212G>T c.1391G>T (p.Gly464Val) n.2206G>T | dbSNP gnomAD v2 |
X | g.53250687C= | CA2429775611 | IQSEC2 | c.2048G= (p.Gly683=) c.1889G= (p.Gly630=) c.1859G= (p.Gly620=) c.1274G= (p.Gly425=) c.1985G= (p.Gly662=) c.1211G= (p.Gly404=) c.1178G= (p.Gly393=) n.2212G= c.1391G= (p.Gly464=) n.2206G= | |
X | g.53250687C>G | CA413162952 | IQSEC2 | c.2048G>C (p.Gly683Ala) c.1889G>C (p.Gly630Ala) c.1859G>C (p.Gly620Ala) c.1274G>C (p.Gly425Ala) c.1985G>C (p.Gly662Ala) c.1211G>C (p.Gly404Ala) c.1178G>C (p.Gly393Ala) n.2212G>C c.1391G>C (p.Gly464Ala) n.2206G>C | |
X | g.53250687C>T | CA413162953 | IQSEC2 | c.2048G>A (p.Gly683Glu) c.1889G>A (p.Gly630Glu) c.1859G>A (p.Gly620Glu) c.1274G>A (p.Gly425Glu) c.1985G>A (p.Gly662Glu) c.1211G>A (p.Gly404Glu) c.1178G>A (p.Gly393Glu) n.2212G>A c.1391G>A (p.Gly464Glu) n.2206G>A | |
X | g.53250688C>A | CA413162956 | IQSEC2 | c.2047G>T (p.Gly683Trp) c.1888G>T (p.Gly630Trp) c.1858G>T (p.Gly620Trp) c.1273G>T (p.Gly425Trp) c.1984G>T (p.Gly662Trp) c.1210G>T (p.Gly404Trp) c.1177G>T (p.Gly393Trp) n.2211G>T c.1390G>T (p.Gly464Trp) n.2205G>T | |
X | g.53250688C>G | CA413162957 | IQSEC2 | c.2047G>C (p.Gly683Arg) c.1888G>C (p.Gly630Arg) c.1858G>C (p.Gly620Arg) c.1273G>C (p.Gly425Arg) c.1984G>C (p.Gly662Arg) c.1210G>C (p.Gly404Arg) c.1177G>C (p.Gly393Arg) n.2211G>C c.1390G>C (p.Gly464Arg) n.2205G>C | |
X | g.53250688C>T | CA413162959 | IQSEC2 | c.2047G>A (p.Gly683Arg) c.1888G>A (p.Gly630Arg) c.1858G>A (p.Gly620Arg) c.1273G>A (p.Gly425Arg) c.1984G>A (p.Gly662Arg) c.1210G>A (p.Gly404Arg) c.1177G>A (p.Gly393Arg) n.2211G>A c.1390G>A (p.Gly464Arg) n.2205G>A | |
X | g.53250689A>C | CA413162961 | IQSEC2 | c.2046T>G (p.His682Gln) c.1887T>G (p.His629Gln) c.1857T>G (p.His619Gln) c.1272T>G (p.His424Gln) c.1983T>G (p.His661Gln) c.1209T>G (p.His403Gln) c.1176T>G (p.His392Gln) n.2210T>G c.1389T>G (p.His463Gln) n.2204T>G | |
X | g.53250689A>G | CA516674034 | IQSEC2 | c.2046T>C (p.His682=) c.1887T>C (p.His629=) c.1857T>C (p.His619=) c.1272T>C (p.His424=) c.1983T>C (p.His661=) c.1209T>C (p.His403=) c.1176T>C (p.His392=) n.2210T>C c.1389T>C (p.His463=) n.2204T>C | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53250689A>T | CA413162963 | IQSEC2 | c.2046T>A (p.His682Gln) c.1887T>A (p.His629Gln) c.1857T>A (p.His619Gln) c.1272T>A (p.His424Gln) c.1983T>A (p.His661Gln) c.1209T>A (p.His403Gln) c.1176T>A (p.His392Gln) n.2210T>A c.1389T>A (p.His463Gln) n.2204T>A | |
X | g.53250690T>A | CA413162968 | IQSEC2 | c.2045A>T (p.His682Leu) c.1886A>T (p.His629Leu) c.1856A>T (p.His619Leu) c.1271A>T (p.His424Leu) c.1982A>T (p.His661Leu) c.1208A>T (p.His403Leu) c.1175A>T (p.His392Leu) n.2209A>T c.1388A>T (p.His463Leu) n.2203A>T | |
X | g.53250690T>C | CA413162970 | IQSEC2 | c.2045A>G (p.His682Arg) c.1886A>G (p.His629Arg) c.1856A>G (p.His619Arg) c.1271A>G (p.His424Arg) c.1982A>G (p.His661Arg) c.1208A>G (p.His403Arg) c.1175A>G (p.His392Arg) n.2209A>G c.1388A>G (p.His463Arg) n.2203A>G | ClinVar dbSNP |
X | g.53250690T>G | CA413162966 | IQSEC2 | c.2045A>C (p.His682Pro) c.1886A>C (p.His629Pro) c.1856A>C (p.His619Pro) c.1271A>C (p.His424Pro) c.1982A>C (p.His661Pro) c.1208A>C (p.His403Pro) c.1175A>C (p.His392Pro) n.2209A>C c.1388A>C (p.His463Pro) n.2203A>C | |
X | g.53250690T= | CA2429775612 | IQSEC2 | c.2045A= (p.His682=) c.1886A= (p.His629=) c.1856A= (p.His619=) c.1271A= (p.His424=) c.1982A= (p.His661=) c.1208A= (p.His403=) c.1175A= (p.His392=) n.2209A= c.1388A= (p.His463=) n.2203A= | |
X | g.53250691G>A | CA413162974 | IQSEC2 | c.2044C>T (p.His682Tyr) c.1885C>T (p.His629Tyr) c.1855C>T (p.His619Tyr) c.1270C>T (p.His424Tyr) c.1981C>T (p.His661Tyr) c.1207C>T (p.His403Tyr) c.1174C>T (p.His392Tyr) n.2208C>T c.1387C>T (p.His463Tyr) n.2202C>T | dbSNP |
X | g.53250691G>C | CA413162977 | IQSEC2 | c.2044C>G (p.His682Asp) c.1885C>G (p.His629Asp) c.1855C>G (p.His619Asp) c.1270C>G (p.His424Asp) c.1981C>G (p.His661Asp) c.1207C>G (p.His403Asp) c.1174C>G (p.His392Asp) n.2208C>G c.1387C>G (p.His463Asp) n.2202C>G | |
X | g.53250691G= | CA2429775613 | IQSEC2 | c.2044C= (p.His682=) c.1885C= (p.His629=) c.1855C= (p.His619=) c.1270C= (p.His424=) c.1981C= (p.His661=) c.1207C= (p.His403=) c.1174C= (p.His392=) n.2208C= c.1387C= (p.His463=) n.2202C= | |
X | g.53250691G>T | CA413162980 | IQSEC2 | c.2044C>A (p.His682Asn) c.1885C>A (p.His629Asn) c.1855C>A (p.His619Asn) c.1270C>A (p.His424Asn) c.1981C>A (p.His661Asn) c.1207C>A (p.His403Asn) c.1174C>A (p.His392Asn) n.2208C>A c.1387C>A (p.His463Asn) n.2202C>A | |
X | g.53250695dup | CA2820946937 | IQSEC2 | c.2044dup (p.His682ProfsTer24) c.1885dup (p.His629ProfsTer24) c.1855dup (p.His619ProfsTer24) c.1270dup (p.His424ProfsTer24) c.1981dup (p.His661ProfsTer24) c.1207dup (p.His403ProfsTer24) c.1174dup (p.His392ProfsTer24) n.2208dup c.1387dup (p.His463ProfsTer24) n.2202dup | |
X | g.53250695del | CA645609637 | IQSEC2 | c.2044del (p.His682MetfsTer4) c.1885del (p.His629MetfsTer4) c.1855del (p.His619MetfsTer4) c.1270del (p.His424MetfsTer4) c.1981del (p.His661MetfsTer4) c.1207del (p.His403MetfsTer4) c.1174del (p.His392MetfsTer4) n.2208del c.1387del (p.His463MetfsTer4) n.2202del | gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53250692G>A | CA516674040 | IQSEC2 | c.2043C>T (p.Pro681=) c.1884C>T (p.Pro628=) c.1854C>T (p.Pro618=) c.1269C>T (p.Pro423=) c.1980C>T (p.Pro660=) c.1206C>T (p.Pro402=) c.1173C>T (p.Pro391=) n.2207C>T c.1386C>T (p.Pro462=) n.2201C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53250692G>C | CA516674043 | IQSEC2 | c.2043C>G (p.Pro681=) c.1884C>G (p.Pro628=) c.1854C>G (p.Pro618=) c.1269C>G (p.Pro423=) c.1980C>G (p.Pro660=) c.1206C>G (p.Pro402=) c.1173C>G (p.Pro391=) n.2207C>G c.1386C>G (p.Pro462=) n.2201C>G | |
X | g.53250692G= | CA2429775614 | IQSEC2 | c.2043C= (p.Pro681=) c.1884C= (p.Pro628=) c.1854C= (p.Pro618=) c.1269C= (p.Pro423=) c.1980C= (p.Pro660=) c.1206C= (p.Pro402=) c.1173C= (p.Pro391=) n.2207C= c.1386C= (p.Pro462=) n.2201C= | |
X | g.53250692G>T | CA516674044 | IQSEC2 | c.2043C>A (p.Pro681=) c.1884C>A (p.Pro628=) c.1854C>A (p.Pro618=) c.1269C>A (p.Pro423=) c.1980C>A (p.Pro660=) c.1206C>A (p.Pro402=) c.1173C>A (p.Pro391=) n.2207C>A c.1386C>A (p.Pro462=) n.2201C>A | dbSNP gnomAD v4 |
X | g.53250693G>A | CA413162984 | IQSEC2 | c.2042C>T (p.Pro681Leu) c.1883C>T (p.Pro628Leu) c.1853C>T (p.Pro618Leu) c.1268C>T (p.Pro423Leu) c.1979C>T (p.Pro660Leu) c.1205C>T (p.Pro402Leu) c.1172C>T (p.Pro391Leu) n.2206C>T c.1385C>T (p.Pro462Leu) n.2200C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.53250693G>C | CA413162986 | IQSEC2 | c.2042C>G (p.Pro681Arg) c.1883C>G (p.Pro628Arg) c.1853C>G (p.Pro618Arg) c.1268C>G (p.Pro423Arg) c.1979C>G (p.Pro660Arg) c.1205C>G (p.Pro402Arg) c.1172C>G (p.Pro391Arg) n.2206C>G c.1385C>G (p.Pro462Arg) n.2200C>G | |
X | g.53250693G= | CA2429775615 | IQSEC2 | c.2042C= (p.Pro681=) c.1883C= (p.Pro628=) c.1853C= (p.Pro618=) c.1268C= (p.Pro423=) c.1979C= (p.Pro660=) c.1205C= (p.Pro402=) c.1172C= (p.Pro391=) n.2206C= c.1385C= (p.Pro462=) n.2200C= | |
X | g.53250693G>T | CA413162990 | IQSEC2 | c.2042C>A (p.Pro681His) c.1883C>A (p.Pro628His) c.1853C>A (p.Pro618His) c.1268C>A (p.Pro423His) c.1979C>A (p.Pro660His) c.1205C>A (p.Pro402His) c.1172C>A (p.Pro391His) n.2206C>A c.1385C>A (p.Pro462His) n.2200C>A | |
X | g.53250694G>A | CA413162998 | IQSEC2 | c.2041C>T (p.Pro681Ser) c.1882C>T (p.Pro628Ser) c.1852C>T (p.Pro618Ser) c.1267C>T (p.Pro423Ser) c.1978C>T (p.Pro660Ser) c.1204C>T (p.Pro402Ser) c.1171C>T (p.Pro391Ser) n.2205C>T c.1384C>T (p.Pro462Ser) n.2199C>T | COSMIC COSMIC COSMIC |
X | g.53250694G>C | CA413162993 | IQSEC2 | c.2041C>G (p.Pro681Ala) c.1882C>G (p.Pro628Ala) c.1852C>G (p.Pro618Ala) c.1267C>G (p.Pro423Ala) c.1978C>G (p.Pro660Ala) c.1204C>G (p.Pro402Ala) c.1171C>G (p.Pro391Ala) n.2205C>G c.1384C>G (p.Pro462Ala) n.2199C>G | |
X | g.53250694G>T | CA413162995 | IQSEC2 | c.2041C>A (p.Pro681Thr) c.1882C>A (p.Pro628Thr) c.1852C>A (p.Pro618Thr) c.1267C>A (p.Pro423Thr) c.1978C>A (p.Pro660Thr) c.1204C>A (p.Pro402Thr) c.1171C>A (p.Pro391Thr) n.2205C>A c.1384C>A (p.Pro462Thr) n.2199C>A | |
X | g.53250694_53250696delinsGGC | CA2429775616 | IQSEC2 | c.2039_2041delinsGCC (p.Ser680=) c.1880_1882delinsGCC (p.Ser627=) c.1850_1852delinsGCC (p.Ser617=) c.1265_1267delinsGCC (p.Ser422=) c.1976_1978delinsGCC (p.Ser659=) c.1202_1204delinsGCC (p.Ser401=) c.1169_1171delinsGCC (p.Ser390=) n.2203_2205delinsGCC c.1382_1384delinsGCC (p.Ser461=) n.2197_2199delinsGCC | |
X | g.53250695G>A | CA516674048 | IQSEC2 | c.2040C>T (p.Ser680=) c.1881C>T (p.Ser627=) c.1851C>T (p.Ser617=) c.1266C>T (p.Ser422=) c.1977C>T (p.Ser659=) c.1203C>T (p.Ser401=) c.1170C>T (p.Ser390=) n.2204C>T c.1383C>T (p.Ser461=) n.2198C>T | |
X | g.53250695G>C | CA413163001 | IQSEC2 | c.2040C>G (p.Ser680Arg) c.1881C>G (p.Ser627Arg) c.1851C>G (p.Ser617Arg) c.1266C>G (p.Ser422Arg) c.1977C>G (p.Ser659Arg) c.1203C>G (p.Ser401Arg) c.1170C>G (p.Ser390Arg) n.2204C>G c.1383C>G (p.Ser461Arg) n.2198C>G | |
X | g.53250695G>T | CA413163002 | IQSEC2 | c.2040C>A (p.Ser680Arg) c.1881C>A (p.Ser627Arg) c.1851C>A (p.Ser617Arg) c.1266C>A (p.Ser422Arg) c.1977C>A (p.Ser659Arg) c.1203C>A (p.Ser401Arg) c.1170C>A (p.Ser390Arg) n.2204C>A c.1383C>A (p.Ser461Arg) n.2198C>A | |
X | g.53250695_53250696del | CA1139667567 | IQSEC2 | c.2039_2040del (p.Ser680ThrfsTer25) c.1880_1881del (p.Ser627ThrfsTer25) c.1850_1851del (p.Ser617ThrfsTer25) c.1265_1266del (p.Ser422ThrfsTer25) c.1976_1977del (p.Ser659ThrfsTer25) c.1202_1203del (p.Ser401ThrfsTer25) c.1169_1170del (p.Ser390ThrfsTer25) n.2203_2204del c.1382_1383del (p.Ser461ThrfsTer25) n.2197_2198del | ClinVar dbSNP |
X | g.53250696C>A | CA413163006 | IQSEC2 | c.2039G>T (p.Ser680Ile) c.1880G>T (p.Ser627Ile) c.1850G>T (p.Ser617Ile) c.1265G>T (p.Ser422Ile) c.1976G>T (p.Ser659Ile) c.1202G>T (p.Ser401Ile) c.1169G>T (p.Ser390Ile) n.2203G>T c.1382G>T (p.Ser461Ile) n.2197G>T | |
X | g.53250696C>G | CA413163008 | IQSEC2 | c.2039G>C (p.Ser680Thr) c.1880G>C (p.Ser627Thr) c.1850G>C (p.Ser617Thr) c.1265G>C (p.Ser422Thr) c.1976G>C (p.Ser659Thr) c.1202G>C (p.Ser401Thr) c.1169G>C (p.Ser390Thr) n.2203G>C c.1382G>C (p.Ser461Thr) n.2197G>C | |
X | g.53250696C>T | CA413163011 | IQSEC2 | c.2039G>A (p.Ser680Asn) c.1880G>A (p.Ser627Asn) c.1850G>A (p.Ser617Asn) c.1265G>A (p.Ser422Asn) c.1976G>A (p.Ser659Asn) c.1202G>A (p.Ser401Asn) c.1169G>A (p.Ser390Asn) n.2203G>A c.1382G>A (p.Ser461Asn) n.2197G>A | |
X | g.53250697T>A | CA413163015 | IQSEC2 | c.2038A>T (p.Ser680Cys) c.1879A>T (p.Ser627Cys) c.1849A>T (p.Ser617Cys) c.1264A>T (p.Ser422Cys) c.1975A>T (p.Ser659Cys) c.1201A>T (p.Ser401Cys) c.1168A>T (p.Ser390Cys) n.2202A>T c.1381A>T (p.Ser461Cys) n.2196A>T | |
X | g.53250697T>C | CA413163019 | IQSEC2 | c.2038A>G (p.Ser680Gly) c.1879A>G (p.Ser627Gly) c.1849A>G (p.Ser617Gly) c.1264A>G (p.Ser422Gly) c.1975A>G (p.Ser659Gly) c.1201A>G (p.Ser401Gly) c.1168A>G (p.Ser390Gly) n.2202A>G c.1381A>G (p.Ser461Gly) n.2196A>G | |
X | g.53250697T>G | CA413163017 | IQSEC2 | c.2038A>C (p.Ser680Arg) c.1879A>C (p.Ser627Arg) c.1849A>C (p.Ser617Arg) c.1264A>C (p.Ser422Arg) c.1975A>C (p.Ser659Arg) c.1201A>C (p.Ser401Arg) c.1168A>C (p.Ser390Arg) n.2202A>C c.1381A>C (p.Ser461Arg) n.2196A>C | |
X | g.53250698G>A | CA516674053 | IQSEC2 | c.2037C>T (p.Cys679=) c.1878C>T (p.Cys626=) c.1848C>T (p.Cys616=) c.1263C>T (p.Cys421=) c.1974C>T (p.Cys658=) c.1200C>T (p.Cys400=) c.1167C>T (p.Cys389=) n.2201C>T c.1380C>T (p.Cys460=) n.2195C>T | ClinVar gnomAD v4 |
X | g.53250698G>C | CA413163022 | IQSEC2 | c.2037C>G (p.Cys679Trp) c.1878C>G (p.Cys626Trp) c.1848C>G (p.Cys616Trp) c.1263C>G (p.Cys421Trp) c.1974C>G (p.Cys658Trp) c.1200C>G (p.Cys400Trp) c.1167C>G (p.Cys389Trp) n.2201C>G c.1380C>G (p.Cys460Trp) n.2195C>G | |
X | g.53250698G>T | CA413163025 | IQSEC2 | c.2037C>A (p.Cys679Ter) c.1878C>A (p.Cys626Ter) c.1848C>A (p.Cys616Ter) c.1263C>A (p.Cys421Ter) c.1974C>A (p.Cys658Ter) c.1200C>A (p.Cys400Ter) c.1167C>A (p.Cys389Ter) n.2201C>A c.1380C>A (p.Cys460Ter) n.2195C>A | |
X | g.53250699C>A | CA413163028 | IQSEC2 | c.2036G>T (p.Cys679Phe) c.1877G>T (p.Cys626Phe) c.1847G>T (p.Cys616Phe) c.1262G>T (p.Cys421Phe) c.1973G>T (p.Cys658Phe) c.1199G>T (p.Cys400Phe) c.1166G>T (p.Cys389Phe) n.2200G>T c.1379G>T (p.Cys460Phe) n.2194G>T | |
X | g.53250699C>G | CA413163031 | IQSEC2 | c.2036G>C (p.Cys679Ser) c.1877G>C (p.Cys626Ser) c.1847G>C (p.Cys616Ser) c.1262G>C (p.Cys421Ser) c.1973G>C (p.Cys658Ser) c.1199G>C (p.Cys400Ser) c.1166G>C (p.Cys389Ser) n.2200G>C c.1379G>C (p.Cys460Ser) n.2194G>C | |
X | g.53250699C>T | CA413163033 | IQSEC2 | c.2036G>A (p.Cys679Tyr) c.1877G>A (p.Cys626Tyr) c.1847G>A (p.Cys616Tyr) c.1262G>A (p.Cys421Tyr) c.1973G>A (p.Cys658Tyr) c.1199G>A (p.Cys400Tyr) c.1166G>A (p.Cys389Tyr) n.2200G>A c.1379G>A (p.Cys460Tyr) n.2194G>A | |
X | g.53250700A= | CA2429775617 | IQSEC2 | c.2035T= (p.Cys679=) c.1876T= (p.Cys626=) c.1846T= (p.Cys616=) c.1261T= (p.Cys421=) c.1972T= (p.Cys658=) c.1198T= (p.Cys400=) c.1165T= (p.Cys389=) n.2199T= c.1378T= (p.Cys460=) n.2193T= | |
X | g.53250700A>C | CA10419997 | IQSEC2 | c.2035T>G (p.Cys679Gly) c.1876T>G (p.Cys626Gly) c.1846T>G (p.Cys616Gly) c.1261T>G (p.Cys421Gly) c.1972T>G (p.Cys658Gly) c.1198T>G (p.Cys400Gly) c.1165T>G (p.Cys389Gly) n.2199T>G c.1378T>G (p.Cys460Gly) n.2193T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53250700A>G | CA413163037 | IQSEC2 | c.2035T>C (p.Cys679Arg) c.1876T>C (p.Cys626Arg) c.1846T>C (p.Cys616Arg) c.1261T>C (p.Cys421Arg) c.1972T>C (p.Cys658Arg) c.1198T>C (p.Cys400Arg) c.1165T>C (p.Cys389Arg) n.2199T>C c.1378T>C (p.Cys460Arg) n.2193T>C | |
X | g.53250700A>T | CA413163041 | IQSEC2 | c.2035T>A (p.Cys679Ser) c.1876T>A (p.Cys626Ser) c.1846T>A (p.Cys616Ser) c.1261T>A (p.Cys421Ser) c.1972T>A (p.Cys658Ser) c.1198T>A (p.Cys400Ser) c.1165T>A (p.Cys389Ser) n.2199T>A c.1378T>A (p.Cys460Ser) n.2193T>A | |
X | g.53250701G>A | CA516674057 | IQSEC2 | c.2034C>T (p.Gly678=) c.1875C>T (p.Gly625=) c.1845C>T (p.Gly615=) c.1260C>T (p.Gly420=) c.1971C>T (p.Gly657=) c.1197C>T (p.Gly399=) c.1164C>T (p.Gly388=) n.2198C>T c.1377C>T (p.Gly459=) n.2192C>T | dbSNP |
X | g.53250701G>C | CA516674060 | IQSEC2 | c.2034C>G (p.Gly678=) c.1875C>G (p.Gly625=) c.1845C>G (p.Gly615=) c.1260C>G (p.Gly420=) c.1971C>G (p.Gly657=) c.1197C>G (p.Gly399=) c.1164C>G (p.Gly388=) n.2198C>G c.1377C>G (p.Gly459=) n.2192C>G | |
X | g.53250701G= | CA2429775618 | IQSEC2 | c.2034C= (p.Gly678=) c.1875C= (p.Gly625=) c.1845C= (p.Gly615=) c.1260C= (p.Gly420=) c.1971C= (p.Gly657=) c.1197C= (p.Gly399=) c.1164C= (p.Gly388=) n.2198C= c.1377C= (p.Gly459=) n.2192C= | |
X | g.53250701G>T | CA516674062 | IQSEC2 | c.2034C>A (p.Gly678=) c.1875C>A (p.Gly625=) c.1845C>A (p.Gly615=) c.1260C>A (p.Gly420=) c.1971C>A (p.Gly657=) c.1197C>A (p.Gly399=) c.1164C>A (p.Gly388=) n.2198C>A c.1377C>A (p.Gly459=) n.2192C>A | |
X | g.53250702C>A | CA413163044 | IQSEC2 | c.2033G>T (p.Gly678Val) c.1874G>T (p.Gly625Val) c.1844G>T (p.Gly615Val) c.1259G>T (p.Gly420Val) c.1970G>T (p.Gly657Val) c.1196G>T (p.Gly399Val) c.1163G>T (p.Gly388Val) n.2197G>T c.1376G>T (p.Gly459Val) n.2191G>T | |
X | g.53250702C>G | CA413163046 | IQSEC2 | c.2033G>C (p.Gly678Ala) c.1874G>C (p.Gly625Ala) c.1844G>C (p.Gly615Ala) c.1259G>C (p.Gly420Ala) c.1970G>C (p.Gly657Ala) c.1196G>C (p.Gly399Ala) c.1163G>C (p.Gly388Ala) n.2197G>C c.1376G>C (p.Gly459Ala) n.2191G>C | |
X | g.53250702C>T | CA413163048 | IQSEC2 | c.2033G>A (p.Gly678Asp) c.1874G>A (p.Gly625Asp) c.1844G>A (p.Gly615Asp) c.1259G>A (p.Gly420Asp) c.1970G>A (p.Gly657Asp) c.1196G>A (p.Gly399Asp) c.1163G>A (p.Gly388Asp) n.2197G>A c.1376G>A (p.Gly459Asp) n.2191G>A | ClinVar |
X | g.53250703C>A | CA413163057 | IQSEC2 | c.2032G>T (p.Gly678Cys) c.1873G>T (p.Gly625Cys) c.1843G>T (p.Gly615Cys) c.1258G>T (p.Gly420Cys) c.1969G>T (p.Gly657Cys) c.1195G>T (p.Gly399Cys) c.1162G>T (p.Gly388Cys) n.2196G>T c.1375G>T (p.Gly459Cys) n.2190G>T | |
X | g.53250703C>G | CA413163054 | IQSEC2 | c.2032G>C (p.Gly678Arg) c.1873G>C (p.Gly625Arg) c.1843G>C (p.Gly615Arg) c.1258G>C (p.Gly420Arg) c.1969G>C (p.Gly657Arg) c.1195G>C (p.Gly399Arg) c.1162G>C (p.Gly388Arg) n.2196G>C c.1375G>C (p.Gly459Arg) n.2190G>C | |
X | g.53250703C>T | CA413163051 | IQSEC2 | c.2032G>A (p.Gly678Ser) c.1873G>A (p.Gly625Ser) c.1843G>A (p.Gly615Ser) c.1258G>A (p.Gly420Ser) c.1969G>A (p.Gly657Ser) c.1195G>A (p.Gly399Ser) c.1162G>A (p.Gly388Ser) n.2196G>A c.1375G>A (p.Gly459Ser) n.2190G>A | |
X | g.53250704A>C | CA413163061 | IQSEC2 | c.2031T>G (p.Asp677Glu) c.1872T>G (p.Asp624Glu) c.1842T>G (p.Asp614Glu) c.1257T>G (p.Asp419Glu) c.1968T>G (p.Asp656Glu) c.1194T>G (p.Asp398Glu) c.1161T>G (p.Asp387Glu) n.2195T>G c.1374T>G (p.Asp458Glu) n.2189T>G | |
X | g.53250704A>G | CA516674066 | IQSEC2 | c.2031T>C (p.Asp677=) c.1872T>C (p.Asp624=) c.1842T>C (p.Asp614=) c.1257T>C (p.Asp419=) c.1968T>C (p.Asp656=) c.1194T>C (p.Asp398=) c.1161T>C (p.Asp387=) n.2195T>C c.1374T>C (p.Asp458=) n.2189T>C | ClinVar |
X | g.53250704A>T | CA413163069 | IQSEC2 | c.2031T>A (p.Asp677Glu) c.1872T>A (p.Asp624Glu) c.1842T>A (p.Asp614Glu) c.1257T>A (p.Asp419Glu) c.1968T>A (p.Asp656Glu) c.1194T>A (p.Asp398Glu) c.1161T>A (p.Asp387Glu) n.2195T>A c.1374T>A (p.Asp458Glu) n.2189T>A | gnomAD v4 |
X | g.53250705T>A | CA413163074 | IQSEC2 | c.2030A>T (p.Asp677Val) c.1871A>T (p.Asp624Val) c.1841A>T (p.Asp614Val) c.1256A>T (p.Asp419Val) c.1967A>T (p.Asp656Val) c.1193A>T (p.Asp398Val) c.1160A>T (p.Asp387Val) n.2194A>T c.1373A>T (p.Asp458Val) n.2188A>T | gnomAD v4 |
X | g.53250705T>C | CA413163078 | IQSEC2 | c.2030A>G (p.Asp677Gly) c.1871A>G (p.Asp624Gly) c.1841A>G (p.Asp614Gly) c.1256A>G (p.Asp419Gly) c.1967A>G (p.Asp656Gly) c.1193A>G (p.Asp398Gly) c.1160A>G (p.Asp387Gly) n.2194A>G c.1373A>G (p.Asp458Gly) n.2188A>G | |
X | g.53250705T>G | CA413163076 | IQSEC2 | c.2030A>C (p.Asp677Ala) c.1871A>C (p.Asp624Ala) c.1841A>C (p.Asp614Ala) c.1256A>C (p.Asp419Ala) c.1967A>C (p.Asp656Ala) c.1193A>C (p.Asp398Ala) c.1160A>C (p.Asp387Ala) n.2194A>C c.1373A>C (p.Asp458Ala) n.2188A>C | |
X | g.53250706C>A | CA413163082 | IQSEC2 | c.2029G>T (p.Asp677Tyr) c.1870G>T (p.Asp624Tyr) c.1840G>T (p.Asp614Tyr) c.1255G>T (p.Asp419Tyr) c.1966G>T (p.Asp656Tyr) c.1192G>T (p.Asp398Tyr) c.1159G>T (p.Asp387Tyr) n.2193G>T c.1372G>T (p.Asp458Tyr) n.2187G>T | gnomAD v4 |
X | g.53250706C>G | CA413163087 | IQSEC2 | c.2029G>C (p.Asp677His) c.1870G>C (p.Asp624His) c.1840G>C (p.Asp614His) c.1255G>C (p.Asp419His) c.1966G>C (p.Asp656His) c.1192G>C (p.Asp398His) c.1159G>C (p.Asp387His) n.2193G>C c.1372G>C (p.Asp458His) n.2187G>C | |
X | g.53250706C>T | CA413163084 | IQSEC2 | c.2029G>A (p.Asp677Asn) c.1870G>A (p.Asp624Asn) c.1840G>A (p.Asp614Asn) c.1255G>A (p.Asp419Asn) c.1966G>A (p.Asp656Asn) c.1192G>A (p.Asp398Asn) c.1159G>A (p.Asp387Asn) n.2193G>A c.1372G>A (p.Asp458Asn) n.2187G>A | |
X | g.53250707A= | CA2429775619 | IQSEC2 | c.2028T= (p.Ala676=) c.1869T= (p.Ala623=) c.1839T= (p.Ala613=) c.1254T= (p.Ala418=) c.1965T= (p.Ala655=) c.1191T= (p.Ala397=) c.1158T= (p.Ala386=) n.2192T= c.1371T= (p.Ala457=) n.2186T= | |
X | g.53250707A>C | CA10419998 | IQSEC2 | c.2028T>G (p.Ala676=) c.1869T>G (p.Ala623=) c.1839T>G (p.Ala613=) c.1254T>G (p.Ala418=) c.1965T>G (p.Ala655=) c.1191T>G (p.Ala397=) c.1158T>G (p.Ala386=) n.2192T>G c.1371T>G (p.Ala457=) n.2186T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53250707A>G | CA516674072 | IQSEC2 | c.2028T>C (p.Ala676=) c.1869T>C (p.Ala623=) c.1839T>C (p.Ala613=) c.1254T>C (p.Ala418=) c.1965T>C (p.Ala655=) c.1191T>C (p.Ala397=) c.1158T>C (p.Ala386=) n.2192T>C c.1371T>C (p.Ala457=) n.2186T>C | gnomAD v4 |
X | g.53250707A>T | CA516674073 | IQSEC2 | c.2028T>A (p.Ala676=) c.1869T>A (p.Ala623=) c.1839T>A (p.Ala613=) c.1254T>A (p.Ala418=) c.1965T>A (p.Ala655=) c.1191T>A (p.Ala397=) c.1158T>A (p.Ala386=) n.2192T>A c.1371T>A (p.Ala457=) n.2186T>A | |
X | g.53250708G>A | CA413163094 | IQSEC2 | c.2027C>T (p.Ala676Val) c.1868C>T (p.Ala623Val) c.1838C>T (p.Ala613Val) c.1253C>T (p.Ala418Val) c.1964C>T (p.Ala655Val) c.1190C>T (p.Ala397Val) c.1157C>T (p.Ala386Val) n.2191C>T c.1370C>T (p.Ala457Val) n.2185C>T | ClinVar |
X | g.53250708G>C | CA413163096 | IQSEC2 | c.2027C>G (p.Ala676Gly) c.1868C>G (p.Ala623Gly) c.1838C>G (p.Ala613Gly) c.1253C>G (p.Ala418Gly) c.1964C>G (p.Ala655Gly) c.1190C>G (p.Ala397Gly) c.1157C>G (p.Ala386Gly) n.2191C>G c.1370C>G (p.Ala457Gly) n.2185C>G | |
X | g.53250708G>T | CA413163098 | IQSEC2 | c.2027C>A (p.Ala676Asp) c.1868C>A (p.Ala623Asp) c.1838C>A (p.Ala613Asp) c.1253C>A (p.Ala418Asp) c.1964C>A (p.Ala655Asp) c.1190C>A (p.Ala397Asp) c.1157C>A (p.Ala386Asp) n.2191C>A c.1370C>A (p.Ala457Asp) n.2185C>A | |
X | g.53250709C>A | CA413163103 | IQSEC2 | c.2026G>T (p.Ala676Ser) c.1867G>T (p.Ala623Ser) c.1837G>T (p.Ala613Ser) c.1252G>T (p.Ala418Ser) c.1963G>T (p.Ala655Ser) c.1189G>T (p.Ala397Ser) c.1156G>T (p.Ala386Ser) n.2190G>T c.1369G>T (p.Ala457Ser) n.2184G>T | |
X | g.53250709C>G | CA413163104 | IQSEC2 | c.2026G>C (p.Ala676Pro) c.1867G>C (p.Ala623Pro) c.1837G>C (p.Ala613Pro) c.1252G>C (p.Ala418Pro) c.1963G>C (p.Ala655Pro) c.1189G>C (p.Ala397Pro) c.1156G>C (p.Ala386Pro) n.2190G>C c.1369G>C (p.Ala457Pro) n.2184G>C | |
X | g.53250709C>T | CA413163107 | IQSEC2 | c.2026G>A (p.Ala676Thr) c.1867G>A (p.Ala623Thr) c.1837G>A (p.Ala613Thr) c.1252G>A (p.Ala418Thr) c.1963G>A (p.Ala655Thr) c.1189G>A (p.Ala397Thr) c.1156G>A (p.Ala386Thr) n.2190G>A c.1369G>A (p.Ala457Thr) n.2184G>A | |
X | g.53250710C>A | CA413163109 | IQSEC2 | c.2025G>T (p.Glu675Asp) c.1866G>T (p.Glu622Asp) c.1836G>T (p.Glu612Asp) c.1251G>T (p.Glu417Asp) c.1962G>T (p.Glu654Asp) c.1188G>T (p.Glu396Asp) c.1155G>T (p.Glu385Asp) n.2189G>T c.1368G>T (p.Glu456Asp) n.2183G>T | |
X | g.53250710C= | CA2429775620 | IQSEC2 | c.2025G= (p.Glu675=) c.1866G= (p.Glu622=) c.1836G= (p.Glu612=) c.1251G= (p.Glu417=) c.1962G= (p.Glu654=) c.1188G= (p.Glu396=) c.1155G= (p.Glu385=) n.2189G= c.1368G= (p.Glu456=) n.2183G= | |
X | g.53250710C>G | CA413163112 | IQSEC2 | c.2025G>C (p.Glu675Asp) c.1866G>C (p.Glu622Asp) c.1836G>C (p.Glu612Asp) c.1251G>C (p.Glu417Asp) c.1962G>C (p.Glu654Asp) c.1188G>C (p.Glu396Asp) c.1155G>C (p.Glu385Asp) n.2189G>C c.1368G>C (p.Glu456Asp) n.2183G>C | |
X | g.53250710C>T | CA10419999 | IQSEC2 | c.2025G>A (p.Glu675=) c.1866G>A (p.Glu622=) c.1836G>A (p.Glu612=) c.1251G>A (p.Glu417=) c.1962G>A (p.Glu654=) c.1188G>A (p.Glu396=) c.1155G>A (p.Glu385=) n.2189G>A c.1368G>A (p.Glu456=) n.2183G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53250711T>A | CA413163131 | IQSEC2 | c.2024A>T (p.Glu675Val) c.1865A>T (p.Glu622Val) c.1835A>T (p.Glu612Val) c.1250A>T (p.Glu417Val) c.1961A>T (p.Glu654Val) c.1187A>T (p.Glu396Val) c.1154A>T (p.Glu385Val) n.2188A>T c.1367A>T (p.Glu456Val) n.2182A>T | |
X | g.53250711T>C | CA413163128 | IQSEC2 | c.2024A>G (p.Glu675Gly) c.1865A>G (p.Glu622Gly) c.1835A>G (p.Glu612Gly) c.1250A>G (p.Glu417Gly) c.1961A>G (p.Glu654Gly) c.1187A>G (p.Glu396Gly) c.1154A>G (p.Glu385Gly) n.2188A>G c.1367A>G (p.Glu456Gly) n.2182A>G | dbSNP |
X | g.53250711T>G | CA413163118 | IQSEC2 | c.2024A>C (p.Glu675Ala) c.1865A>C (p.Glu622Ala) c.1835A>C (p.Glu612Ala) c.1250A>C (p.Glu417Ala) c.1961A>C (p.Glu654Ala) c.1187A>C (p.Glu396Ala) c.1154A>C (p.Glu385Ala) n.2188A>C c.1367A>C (p.Glu456Ala) n.2182A>C | |
X | g.53250711T= | CA2429775621 | IQSEC2 | c.2024A= (p.Glu675=) c.1865A= (p.Glu622=) c.1835A= (p.Glu612=) c.1250A= (p.Glu417=) c.1961A= (p.Glu654=) c.1187A= (p.Glu396=) c.1154A= (p.Glu385=) n.2188A= c.1367A= (p.Glu456=) n.2182A= | |
X | g.53250712C>A | CA413163133 | IQSEC2 | c.2023G>T (p.Glu675Ter) c.1864G>T (p.Glu622Ter) c.1834G>T (p.Glu612Ter) c.1249G>T (p.Glu417Ter) c.1960G>T (p.Glu654Ter) c.1186G>T (p.Glu396Ter) c.1153G>T (p.Glu385Ter) n.2187G>T c.1366G>T (p.Glu456Ter) n.2181G>T | |
X | g.53250712C>G | CA413163135 | IQSEC2 | c.2023G>C (p.Glu675Gln) c.1864G>C (p.Glu622Gln) c.1834G>C (p.Glu612Gln) c.1249G>C (p.Glu417Gln) c.1960G>C (p.Glu654Gln) c.1186G>C (p.Glu396Gln) c.1153G>C (p.Glu385Gln) n.2187G>C c.1366G>C (p.Glu456Gln) n.2181G>C | |
X | g.53250712C>T | CA413163137 | IQSEC2 | c.2023G>A (p.Glu675Lys) c.1864G>A (p.Glu622Lys) c.1834G>A (p.Glu612Lys) c.1249G>A (p.Glu417Lys) c.1960G>A (p.Glu654Lys) c.1186G>A (p.Glu396Lys) c.1153G>A (p.Glu385Lys) n.2187G>A c.1366G>A (p.Glu456Lys) n.2181G>A | gnomAD v4 |
X | g.53250713A>C | CA413163139 | IQSEC2 | c.2022T>G (p.Tyr674Ter) c.1863T>G (p.Tyr621Ter) c.1833T>G (p.Tyr611Ter) c.1248T>G (p.Tyr416Ter) c.1959T>G (p.Tyr653Ter) c.1185T>G (p.Tyr395Ter) c.1152T>G (p.Tyr384Ter) n.2186T>G c.1365T>G (p.Tyr455Ter) n.2180T>G | |
X | g.53250713A>G | CA516674080 | IQSEC2 | c.2022T>C (p.Tyr674=) c.1863T>C (p.Tyr621=) c.1833T>C (p.Tyr611=) c.1248T>C (p.Tyr416=) c.1959T>C (p.Tyr653=) c.1185T>C (p.Tyr395=) c.1152T>C (p.Tyr384=) n.2186T>C c.1365T>C (p.Tyr455=) n.2180T>C | gnomAD v4 |
X | g.53250713A>T | CA413163142 | IQSEC2 | c.2022T>A (p.Tyr674Ter) c.1863T>A (p.Tyr621Ter) c.1833T>A (p.Tyr611Ter) c.1248T>A (p.Tyr416Ter) c.1959T>A (p.Tyr653Ter) c.1185T>A (p.Tyr395Ter) c.1152T>A (p.Tyr384Ter) n.2186T>A c.1365T>A (p.Tyr455Ter) n.2180T>A | |
X | g.53250714T>A | CA413163145 | IQSEC2 | c.2021A>T (p.Tyr674Phe) c.1862A>T (p.Tyr621Phe) c.1832A>T (p.Tyr611Phe) c.1247A>T (p.Tyr416Phe) c.1958A>T (p.Tyr653Phe) c.1184A>T (p.Tyr395Phe) c.1151A>T (p.Tyr384Phe) n.2185A>T c.1364A>T (p.Tyr455Phe) n.2179A>T | |
X | g.53250714T>C | CA413163147 | IQSEC2 | c.2021A>G (p.Tyr674Cys) c.1862A>G (p.Tyr621Cys) c.1832A>G (p.Tyr611Cys) c.1247A>G (p.Tyr416Cys) c.1958A>G (p.Tyr653Cys) c.1184A>G (p.Tyr395Cys) c.1151A>G (p.Tyr384Cys) n.2185A>G c.1364A>G (p.Tyr455Cys) n.2179A>G | |
X | g.53250714T>G | CA413163150 | IQSEC2 | c.2021A>C (p.Tyr674Ser) c.1862A>C (p.Tyr621Ser) c.1832A>C (p.Tyr611Ser) c.1247A>C (p.Tyr416Ser) c.1958A>C (p.Tyr653Ser) c.1184A>C (p.Tyr395Ser) c.1151A>C (p.Tyr384Ser) n.2185A>C c.1364A>C (p.Tyr455Ser) n.2179A>C | |
X | g.53250715A>C | CA413163154 | IQSEC2 | c.2020T>G (p.Tyr674Asp) c.1861T>G (p.Tyr621Asp) c.1831T>G (p.Tyr611Asp) c.1246T>G (p.Tyr416Asp) c.1957T>G (p.Tyr653Asp) c.1183T>G (p.Tyr395Asp) c.1150T>G (p.Tyr384Asp) n.2184T>G c.1363T>G (p.Tyr455Asp) n.2178T>G | ClinVar |
X | g.53250715A>G | CA413163156 | IQSEC2 | c.2020T>C (p.Tyr674His) c.1861T>C (p.Tyr621His) c.1831T>C (p.Tyr611His) c.1246T>C (p.Tyr416His) c.1957T>C (p.Tyr653His) c.1183T>C (p.Tyr395His) c.1150T>C (p.Tyr384His) n.2184T>C c.1363T>C (p.Tyr455His) n.2178T>C | |
X | g.53250715A>T | CA413163158 | IQSEC2 | c.2020T>A (p.Tyr674Asn) c.1861T>A (p.Tyr621Asn) c.1831T>A (p.Tyr611Asn) c.1246T>A (p.Tyr416Asn) c.1957T>A (p.Tyr653Asn) c.1183T>A (p.Tyr395Asn) c.1150T>A (p.Tyr384Asn) n.2184T>A c.1363T>A (p.Tyr455Asn) n.2178T>A | |
X | g.53250715dup | CA2695233929 | IQSEC2 | c.2020dup (p.Tyr674LeufsTer2) c.1861dup (p.Tyr621LeufsTer2) c.1831dup (p.Tyr611LeufsTer2) c.1246dup (p.Tyr416LeufsTer2) c.1957dup (p.Tyr653LeufsTer2) c.1183dup (p.Tyr395LeufsTer2) c.1150dup (p.Tyr384LeufsTer2) n.2184dup c.1363dup (p.Tyr455LeufsTer2) n.2178dup | |
X | g.53250716C>A | CA516674082 | IQSEC2 | c.2019G>T (p.Val673=) c.1860G>T (p.Val620=) c.1830G>T (p.Val610=) c.1245G>T (p.Val415=) c.1956G>T (p.Val652=) c.1182G>T (p.Val394=) c.1149G>T (p.Val383=) n.2183G>T c.1362G>T (p.Val454=) n.2177G>T | |
X | g.53250716C>G | CA516674083 | IQSEC2 | c.2019G>C (p.Val673=) c.1860G>C (p.Val620=) c.1830G>C (p.Val610=) c.1245G>C (p.Val415=) c.1956G>C (p.Val652=) c.1182G>C (p.Val394=) c.1149G>C (p.Val383=) n.2183G>C c.1362G>C (p.Val454=) n.2177G>C | |
X | g.53250716C>T | CA516674084 | IQSEC2 | c.2019G>A (p.Val673=) c.1860G>A (p.Val620=) c.1830G>A (p.Val610=) c.1245G>A (p.Val415=) c.1956G>A (p.Val652=) c.1182G>A (p.Val394=) c.1149G>A (p.Val383=) n.2183G>A c.1362G>A (p.Val454=) n.2177G>A | |
X | g.53250717A>C | CA413163167 | IQSEC2 | c.2018T>G (p.Val673Gly) c.1859T>G (p.Val620Gly) c.1829T>G (p.Val610Gly) c.1244T>G (p.Val415Gly) c.1955T>G (p.Val652Gly) c.1181T>G (p.Val394Gly) c.1148T>G (p.Val383Gly) n.2182T>G c.1361T>G (p.Val454Gly) n.2176T>G | |
X | g.53250717A>G | CA413163164 | IQSEC2 | c.2018T>C (p.Val673Ala) c.1859T>C (p.Val620Ala) c.1829T>C (p.Val610Ala) c.1244T>C (p.Val415Ala) c.1955T>C (p.Val652Ala) c.1181T>C (p.Val394Ala) c.1148T>C (p.Val383Ala) n.2182T>C c.1361T>C (p.Val454Ala) n.2176T>C | gnomAD v4 |
X | g.53250717A>T | CA413163161 | IQSEC2 | c.2018T>A (p.Val673Glu) c.1859T>A (p.Val620Glu) c.1829T>A (p.Val610Glu) c.1244T>A (p.Val415Glu) c.1955T>A (p.Val652Glu) c.1181T>A (p.Val394Glu) c.1148T>A (p.Val383Glu) n.2182T>A c.1361T>A (p.Val454Glu) n.2176T>A | |
X | g.53250718C>A | CA413163170 | IQSEC2 | c.2017G>T (p.Val673Leu) c.1858G>T (p.Val620Leu) c.1828G>T (p.Val610Leu) c.1243G>T (p.Val415Leu) c.1954G>T (p.Val652Leu) c.1180G>T (p.Val394Leu) c.1147G>T (p.Val383Leu) n.2181G>T c.1360G>T (p.Val454Leu) n.2175G>T | |
X | g.53250718C>G | CA413163172 | IQSEC2 | c.2017G>C (p.Val673Leu) c.1858G>C (p.Val620Leu) c.1828G>C (p.Val610Leu) c.1243G>C (p.Val415Leu) c.1954G>C (p.Val652Leu) c.1180G>C (p.Val394Leu) c.1147G>C (p.Val383Leu) n.2181G>C c.1360G>C (p.Val454Leu) n.2175G>C | |
X | g.53250718C>T | CA413163175 | IQSEC2 | c.2017G>A (p.Val673Met) c.1858G>A (p.Val620Met) c.1828G>A (p.Val610Met) c.1243G>A (p.Val415Met) c.1954G>A (p.Val652Met) c.1180G>A (p.Val394Met) c.1147G>A (p.Val383Met) n.2181G>A c.1360G>A (p.Val454Met) n.2175G>A | |
X | g.53250719C>A | CA516674089 | IQSEC2 | c.2016G>T (p.Leu672=) c.1857G>T (p.Leu619=) c.1827G>T (p.Leu609=) c.1242G>T (p.Leu414=) c.1953G>T (p.Leu651=) c.1179G>T (p.Leu393=) c.1146G>T (p.Leu382=) n.2180G>T c.1359G>T (p.Leu453=) n.2174G>T | |
X | g.53250719C>G | CA516674090 | IQSEC2 | c.2016G>C (p.Leu672=) c.1857G>C (p.Leu619=) c.1827G>C (p.Leu609=) c.1242G>C (p.Leu414=) c.1953G>C (p.Leu651=) c.1179G>C (p.Leu393=) c.1146G>C (p.Leu382=) n.2180G>C c.1359G>C (p.Leu453=) n.2174G>C | |
X | g.53250719C>T | CA516674091 | IQSEC2 | c.2016G>A (p.Leu672=) c.1857G>A (p.Leu619=) c.1827G>A (p.Leu609=) c.1242G>A (p.Leu414=) c.1953G>A (p.Leu651=) c.1179G>A (p.Leu393=) c.1146G>A (p.Leu382=) n.2180G>A c.1359G>A (p.Leu453=) n.2174G>A | |
X | g.53250726_53250727insAGTGGACAGCTGGC | CA2838031972 | IQSEC2 | c.2016_2017insTCCACTGCCAGCTG (p.Val673SerfsTer18) c.1857_1858insTCCACTGCCAGCTG (p.Val620SerfsTer18) c.1827_1828insTCCACTGCCAGCTG (p.Val610SerfsTer18) c.1242_1243insTCCACTGCCAGCTG (p.Val415SerfsTer18) c.1953_1954insTCCACTGCCAGCTG (p.Val652SerfsTer18) c.1179_1180insTCCACTGCCAGCTG (p.Val394SerfsTer18) c.1146_1147insTCCACTGCCAGCTG (p.Val383SerfsTer18) n.2180_2181insTCCACTGCCAGCTG c.1359_1360insTCCACTGCCAGCTG (p.Val454SerfsTer18) n.2174_2175insTCCACTGCCAGCTG | |
X | g.53250720A= | CA2429775622 | IQSEC2 | c.2015T= (p.Leu672=) c.1856T= (p.Leu619=) c.1826T= (p.Leu609=) c.1241T= (p.Leu414=) c.1952T= (p.Leu651=) c.1178T= (p.Leu393=) c.1145T= (p.Leu382=) n.2179T= c.1358T= (p.Leu453=) n.2173T= | |
X | g.53250720A>C | CA10420000 | IQSEC2 | c.2015T>G (p.Leu672Arg) c.1856T>G (p.Leu619Arg) c.1826T>G (p.Leu609Arg) c.1241T>G (p.Leu414Arg) c.1952T>G (p.Leu651Arg) c.1178T>G (p.Leu393Arg) c.1145T>G (p.Leu382Arg) n.2179T>G c.1358T>G (p.Leu453Arg) n.2173T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53250720A>G | CA413163181 | IQSEC2 | c.2015T>C (p.Leu672Pro) c.1856T>C (p.Leu619Pro) c.1826T>C (p.Leu609Pro) c.1241T>C (p.Leu414Pro) c.1952T>C (p.Leu651Pro) c.1178T>C (p.Leu393Pro) c.1145T>C (p.Leu382Pro) n.2179T>C c.1358T>C (p.Leu453Pro) n.2173T>C | |
X | g.53250720A>T | CA413163184 | IQSEC2 | c.2015T>A (p.Leu672Gln) c.1856T>A (p.Leu619Gln) c.1826T>A (p.Leu609Gln) c.1241T>A (p.Leu414Gln) c.1952T>A (p.Leu651Gln) c.1178T>A (p.Leu393Gln) c.1145T>A (p.Leu382Gln) n.2179T>A c.1358T>A (p.Leu453Gln) n.2173T>A | |
X | g.53250721G>A | CA516674095 | IQSEC2 | c.2014C>T (p.Leu672=) c.1855C>T (p.Leu619=) c.1825C>T (p.Leu609=) c.1240C>T (p.Leu414=) c.1951C>T (p.Leu651=) c.1177C>T (p.Leu393=) c.1144C>T (p.Leu382=) n.2178C>T c.1357C>T (p.Leu453=) n.2172C>T | |
X | g.53250721G>C | CA413163188 | IQSEC2 | c.2014C>G (p.Leu672Val) c.1855C>G (p.Leu619Val) c.1825C>G (p.Leu609Val) c.1240C>G (p.Leu414Val) c.1951C>G (p.Leu651Val) c.1177C>G (p.Leu393Val) c.1144C>G (p.Leu382Val) n.2178C>G c.1357C>G (p.Leu453Val) n.2172C>G | |
X | g.53250721G>T | CA413163189 | IQSEC2 | c.2014C>A (p.Leu672Met) c.1855C>A (p.Leu619Met) c.1825C>A (p.Leu609Met) c.1240C>A (p.Leu414Met) c.1951C>A (p.Leu651Met) c.1177C>A (p.Leu393Met) c.1144C>A (p.Leu382Met) n.2178C>A c.1357C>A (p.Leu453Met) n.2172C>A | |
X | g.53250722C>A | CA413163192 | IQSEC2 | c.2013G>T (p.Gln671His) c.1854G>T (p.Gln618His) c.1824G>T (p.Gln608His) c.1239G>T (p.Gln413His) c.1950G>T (p.Gln650His) c.1176G>T (p.Gln392His) c.1143G>T (p.Gln381His) n.2177G>T c.1356G>T (p.Gln452His) n.2171G>T | |
X | g.53250722C>G | CA413163195 | IQSEC2 | c.2013G>C (p.Gln671His) c.1854G>C (p.Gln618His) c.1824G>C (p.Gln608His) c.1239G>C (p.Gln413His) c.1950G>C (p.Gln650His) c.1176G>C (p.Gln392His) c.1143G>C (p.Gln381His) n.2177G>C c.1356G>C (p.Gln452His) n.2171G>C | |
X | g.53250722C>T | CA516674096 | IQSEC2 | c.2013G>A (p.Gln671=) c.1854G>A (p.Gln618=) c.1824G>A (p.Gln608=) c.1239G>A (p.Gln413=) c.1950G>A (p.Gln650=) c.1176G>A (p.Gln392=) c.1143G>A (p.Gln381=) n.2177G>A c.1356G>A (p.Gln452=) n.2171G>A | |
X | g.53250723T>A | CA413163198 | IQSEC2 | c.2012A>T (p.Gln671Leu) c.1853A>T (p.Gln618Leu) c.1823A>T (p.Gln608Leu) c.1238A>T (p.Gln413Leu) c.1949A>T (p.Gln650Leu) c.1175A>T (p.Gln392Leu) c.1142A>T (p.Gln381Leu) n.2176A>T c.1355A>T (p.Gln452Leu) n.2170A>T | |
X | g.53250723T>C | CA413163200 | IQSEC2 | c.2012A>G (p.Gln671Arg) c.1853A>G (p.Gln618Arg) c.1823A>G (p.Gln608Arg) c.1238A>G (p.Gln413Arg) c.1949A>G (p.Gln650Arg) c.1175A>G (p.Gln392Arg) c.1142A>G (p.Gln381Arg) n.2176A>G c.1355A>G (p.Gln452Arg) n.2170A>G | |
X | g.53250723T>G | CA413163203 | IQSEC2 | c.2012A>C (p.Gln671Pro) c.1853A>C (p.Gln618Pro) c.1823A>C (p.Gln608Pro) c.1238A>C (p.Gln413Pro) c.1949A>C (p.Gln650Pro) c.1175A>C (p.Gln392Pro) c.1142A>C (p.Gln381Pro) n.2176A>C c.1355A>C (p.Gln452Pro) n.2170A>C | |
X | g.53250724G>A | CA413163205 | IQSEC2 | c.2011C>T (p.Gln671Ter) c.1852C>T (p.Gln618Ter) c.1822C>T (p.Gln608Ter) c.1237C>T (p.Gln413Ter) c.1948C>T (p.Gln650Ter) c.1174C>T (p.Gln392Ter) c.1141C>T (p.Gln381Ter) n.2175C>T c.1354C>T (p.Gln452Ter) n.2169C>T | |
X | g.53250724G>C | CA413163210 | IQSEC2 | c.2011C>G (p.Gln671Glu) c.1852C>G (p.Gln618Glu) c.1822C>G (p.Gln608Glu) c.1237C>G (p.Gln413Glu) c.1948C>G (p.Gln650Glu) c.1174C>G (p.Gln392Glu) c.1141C>G (p.Gln381Glu) n.2175C>G c.1354C>G (p.Gln452Glu) n.2169C>G | |
X | g.53250724G>T | CA413163207 | IQSEC2 | c.2011C>A (p.Gln671Lys) c.1852C>A (p.Gln618Lys) c.1822C>A (p.Gln608Lys) c.1237C>A (p.Gln413Lys) c.1948C>A (p.Gln650Lys) c.1174C>A (p.Gln392Lys) c.1141C>A (p.Gln381Lys) n.2175C>A c.1354C>A (p.Gln452Lys) n.2169C>A | |
X | g.53250725G>A | CA516674100 | IQSEC2 | c.2010C>T (p.Arg670=) c.1851C>T (p.Arg617=) c.1821C>T (p.Arg607=) c.1236C>T (p.Arg412=) c.1947C>T (p.Arg649=) c.1173C>T (p.Arg391=) c.1140C>T (p.Arg380=) n.2174C>T c.1353C>T (p.Arg451=) n.2168C>T | |
X | g.53250725G>C | CA516674101 | IQSEC2 | c.2010C>G (p.Arg670=) c.1851C>G (p.Arg617=) c.1821C>G (p.Arg607=) c.1236C>G (p.Arg412=) c.1947C>G (p.Arg649=) c.1173C>G (p.Arg391=) c.1140C>G (p.Arg380=) n.2174C>G c.1353C>G (p.Arg451=) n.2168C>G | |
X | g.53250725G>T | CA516674102 | IQSEC2 | c.2010C>A (p.Arg670=) c.1851C>A (p.Arg617=) c.1821C>A (p.Arg607=) c.1236C>A (p.Arg412=) c.1947C>A (p.Arg649=) c.1173C>A (p.Arg391=) c.1140C>A (p.Arg380=) n.2174C>A c.1353C>A (p.Arg451=) n.2168C>A | |
X | g.53250726C>A | CA413163214 | IQSEC2 | c.2009G>T (p.Arg670Leu) c.1850G>T (p.Arg617Leu) c.1820G>T (p.Arg607Leu) c.1235G>T (p.Arg412Leu) c.1946G>T (p.Arg649Leu) c.1172G>T (p.Arg391Leu) c.1139G>T (p.Arg380Leu) n.2173G>T c.1352G>T (p.Arg451Leu) n.2167G>T | |
X | g.53250726C= | CA2429775623 | IQSEC2 | c.2009G= (p.Arg670=) c.1850G= (p.Arg617=) c.1820G= (p.Arg607=) c.1235G= (p.Arg412=) c.1946G= (p.Arg649=) c.1172G= (p.Arg391=) c.1139G= (p.Arg380=) n.2173G= c.1352G= (p.Arg451=) n.2167G= | |
X | g.53250726C>G | CA413163217 | IQSEC2 | c.2009G>C (p.Arg670Pro) c.1850G>C (p.Arg617Pro) c.1820G>C (p.Arg607Pro) c.1235G>C (p.Arg412Pro) c.1946G>C (p.Arg649Pro) c.1172G>C (p.Arg391Pro) c.1139G>C (p.Arg380Pro) n.2173G>C c.1352G>C (p.Arg451Pro) n.2167G>C | |
X | g.53250726C>T | CA413163219 | IQSEC2 | c.2009G>A (p.Arg670His) c.1850G>A (p.Arg617His) c.1820G>A (p.Arg607His) c.1235G>A (p.Arg412His) c.1946G>A (p.Arg649His) c.1172G>A (p.Arg391His) c.1139G>A (p.Arg380His) n.2173G>A c.1352G>A (p.Arg451His) n.2167G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53250726_53250727delinsCG | CA2429775624 | IQSEC2 | c.2008_2009delinsCG (p.Arg670=) c.1849_1850delinsCG (p.Arg617=) c.1819_1820delinsCG (p.Arg607=) c.1234_1235delinsCG (p.Arg412=) c.1945_1946delinsCG (p.Arg649=) c.1171_1172delinsCG (p.Arg391=) c.1138_1139delinsCG (p.Arg380=) n.2172_2173delinsCG c.1351_1352delinsCG (p.Arg451=) n.2166_2167delinsCG | |
X | g.53250727G>A | CA413163222 | IQSEC2 | c.2008C>T (p.Arg670Cys) c.1849C>T (p.Arg617Cys) c.1819C>T (p.Arg607Cys) c.1234C>T (p.Arg412Cys) c.1945C>T (p.Arg649Cys) c.1171C>T (p.Arg391Cys) c.1138C>T (p.Arg380Cys) n.2172C>T c.1351C>T (p.Arg451Cys) n.2166C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.53250727G>C | CA413163224 | IQSEC2 | c.2008C>G (p.Arg670Gly) c.1849C>G (p.Arg617Gly) c.1819C>G (p.Arg607Gly) c.1234C>G (p.Arg412Gly) c.1945C>G (p.Arg649Gly) c.1171C>G (p.Arg391Gly) c.1138C>G (p.Arg380Gly) n.2172C>G c.1351C>G (p.Arg451Gly) n.2166C>G | |
X | g.53250727G= | CA2429775625 | IQSEC2 | c.2008C= (p.Arg670=) c.1849C= (p.Arg617=) c.1819C= (p.Arg607=) c.1234C= (p.Arg412=) c.1945C= (p.Arg649=) c.1171C= (p.Arg391=) c.1138C= (p.Arg380=) n.2172C= c.1351C= (p.Arg451=) n.2166C= | |
X | g.53250727G>T | CA413163227 | IQSEC2 | c.2008C>A (p.Arg670Ser) c.1849C>A (p.Arg617Ser) c.1819C>A (p.Arg607Ser) c.1234C>A (p.Arg412Ser) c.1945C>A (p.Arg649Ser) c.1171C>A (p.Arg391Ser) c.1138C>A (p.Arg380Ser) n.2172C>A c.1351C>A (p.Arg451Ser) n.2166C>A | |
X | g.53250728del | CA1139667568 | IQSEC2 | c.2008del (p.Arg670AlafsTer16) c.1849del (p.Arg617AlafsTer16) c.1819del (p.Arg607AlafsTer16) c.1234del (p.Arg412AlafsTer16) c.1945del (p.Arg649AlafsTer16) c.1171del (p.Arg391AlafsTer16) c.1138del (p.Arg380AlafsTer16) n.2172del c.1351del (p.Arg451AlafsTer16) n.2166del | ClinVar dbSNP |
X | g.53250728G>A | CA329166183 | IQSEC2 | c.2007C>T (p.His669=) c.1848C>T (p.His616=) c.1818C>T (p.His606=) c.1233C>T (p.His411=) c.1944C>T (p.His648=) c.1170C>T (p.His390=) c.1137C>T (p.His379=) n.2171C>T c.1350C>T (p.His450=) n.2165C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53250728G>C | CA413163236 | IQSEC2 | c.2007C>G (p.His669Gln) c.1848C>G (p.His616Gln) c.1818C>G (p.His606Gln) c.1233C>G (p.His411Gln) c.1944C>G (p.His648Gln) c.1170C>G (p.His390Gln) c.1137C>G (p.His379Gln) n.2171C>G c.1350C>G (p.His450Gln) n.2165C>G | |
X | g.53250728G= | CA2429775626 | IQSEC2 | c.2007C= (p.His669=) c.1848C= (p.His616=) c.1818C= (p.His606=) c.1233C= (p.His411=) c.1944C= (p.His648=) c.1170C= (p.His390=) c.1137C= (p.His379=) n.2171C= c.1350C= (p.His450=) n.2165C= | |
X | g.53250728G>T | CA413163238 | IQSEC2 | c.2007C>A (p.His669Gln) c.1848C>A (p.His616Gln) c.1818C>A (p.His606Gln) c.1233C>A (p.His411Gln) c.1944C>A (p.His648Gln) c.1170C>A (p.His390Gln) c.1137C>A (p.His379Gln) n.2171C>A c.1350C>A (p.His450Gln) n.2165C>A | |
X | g.53250729T>A | CA413163242 | IQSEC2 | c.2006A>T (p.His669Leu) c.1847A>T (p.His616Leu) c.1817A>T (p.His606Leu) c.1232A>T (p.His411Leu) c.1943A>T (p.His648Leu) c.1169A>T (p.His390Leu) c.1136A>T (p.His379Leu) n.2170A>T c.1349A>T (p.His450Leu) n.2164A>T | |
X | g.53250729T>C | CA413163244 | IQSEC2 | c.2006A>G (p.His669Arg) c.1847A>G (p.His616Arg) c.1817A>G (p.His606Arg) c.1232A>G (p.His411Arg) c.1943A>G (p.His648Arg) c.1169A>G (p.His390Arg) c.1136A>G (p.His379Arg) n.2170A>G c.1349A>G (p.His450Arg) n.2164A>G | |
X | g.53250729T>G | CA413163253 | IQSEC2 | c.2006A>C (p.His669Pro) c.1847A>C (p.His616Pro) c.1817A>C (p.His606Pro) c.1232A>C (p.His411Pro) c.1943A>C (p.His648Pro) c.1169A>C (p.His390Pro) c.1136A>C (p.His379Pro) n.2170A>C c.1349A>C (p.His450Pro) n.2164A>C | |
X | g.53250730G>A | CA413163259 | IQSEC2 | c.2005C>T (p.His669Tyr) c.1846C>T (p.His616Tyr) c.1816C>T (p.His606Tyr) c.1231C>T (p.His411Tyr) c.1942C>T (p.His648Tyr) c.1168C>T (p.His390Tyr) c.1135C>T (p.His379Tyr) n.2169C>T c.1348C>T (p.His450Tyr) n.2163C>T | dbSNP |
X | g.53250730G>C | CA413163261 | IQSEC2 | c.2005C>G (p.His669Asp) c.1846C>G (p.His616Asp) c.1816C>G (p.His606Asp) c.1231C>G (p.His411Asp) c.1942C>G (p.His648Asp) c.1168C>G (p.His390Asp) c.1135C>G (p.His379Asp) n.2169C>G c.1348C>G (p.His450Asp) n.2163C>G | |
X | g.53250730G= | CA2429775627 | IQSEC2 | c.2005C= (p.His669=) c.1846C= (p.His616=) c.1816C= (p.His606=) c.1231C= (p.His411=) c.1942C= (p.His648=) c.1168C= (p.His390=) c.1135C= (p.His379=) n.2169C= c.1348C= (p.His450=) n.2163C= | |
X | g.53250730G>T | CA413163257 | IQSEC2 | c.2005C>A (p.His669Asn) c.1846C>A (p.His616Asn) c.1816C>A (p.His606Asn) c.1231C>A (p.His411Asn) c.1942C>A (p.His648Asn) c.1168C>A (p.His390Asn) c.1135C>A (p.His379Asn) n.2169C>A c.1348C>A (p.His450Asn) n.2163C>A | |
X | g.53250731G>A | CA516674107 | IQSEC2 | c.2004C>T (p.Val668=) c.1845C>T (p.Val615=) c.1815C>T (p.Val605=) c.1230C>T (p.Val410=) c.1941C>T (p.Val647=) c.1167C>T (p.Val389=) c.1134C>T (p.Val378=) n.2168C>T c.1347C>T (p.Val449=) n.2162C>T | |
X | g.53250731G>C | CA516674106 | IQSEC2 | c.2004C>G (p.Val668=) c.1845C>G (p.Val615=) c.1815C>G (p.Val605=) c.1230C>G (p.Val410=) c.1941C>G (p.Val647=) c.1167C>G (p.Val389=) c.1134C>G (p.Val378=) n.2168C>G c.1347C>G (p.Val449=) n.2162C>G | |
X | g.53250731G>T | CA516674105 | IQSEC2 | c.2004C>A (p.Val668=) c.1845C>A (p.Val615=) c.1815C>A (p.Val605=) c.1230C>A (p.Val410=) c.1941C>A (p.Val647=) c.1167C>A (p.Val389=) c.1134C>A (p.Val378=) n.2168C>A c.1347C>A (p.Val449=) n.2162C>A | |
X | g.53250732A>C | CA413163267 | IQSEC2 | c.2003T>G (p.Val668Gly) c.1844T>G (p.Val615Gly) c.1814T>G (p.Val605Gly) c.1229T>G (p.Val410Gly) c.1940T>G (p.Val647Gly) c.1166T>G (p.Val389Gly) c.1133T>G (p.Val378Gly) n.2167T>G c.1346T>G (p.Val449Gly) n.2161T>G | |
X | g.53250732A>G | CA413163263 | IQSEC2 | c.2003T>C (p.Val668Ala) c.1844T>C (p.Val615Ala) c.1814T>C (p.Val605Ala) c.1229T>C (p.Val410Ala) c.1940T>C (p.Val647Ala) c.1166T>C (p.Val389Ala) c.1133T>C (p.Val378Ala) n.2167T>C c.1346T>C (p.Val449Ala) n.2161T>C | |
X | g.53250732A>T | CA413163265 | IQSEC2 | c.2003T>A (p.Val668Asp) c.1844T>A (p.Val615Asp) c.1814T>A (p.Val605Asp) c.1229T>A (p.Val410Asp) c.1940T>A (p.Val647Asp) c.1166T>A (p.Val389Asp) c.1133T>A (p.Val378Asp) n.2167T>A c.1346T>A (p.Val449Asp) n.2161T>A | |
X | g.53250733C>A | CA413163268 | IQSEC2 | c.2002G>T (p.Val668Phe) c.1843G>T (p.Val615Phe) c.1813G>T (p.Val605Phe) c.1228G>T (p.Val410Phe) c.1939G>T (p.Val647Phe) c.1165G>T (p.Val389Phe) c.1132G>T (p.Val378Phe) n.2166G>T c.1345G>T (p.Val449Phe) n.2160G>T | |
X | g.53250733C= | CA2429775628 | IQSEC2 | c.2002G= (p.Val668=) c.1843G= (p.Val615=) c.1813G= (p.Val605=) c.1228G= (p.Val410=) c.1939G= (p.Val647=) c.1165G= (p.Val389=) c.1132G= (p.Val378=) n.2166G= c.1345G= (p.Val449=) n.2160G= | |
X | g.53250733C>G | CA413163269 | IQSEC2 | c.2002G>C (p.Val668Leu) c.1843G>C (p.Val615Leu) c.1813G>C (p.Val605Leu) c.1228G>C (p.Val410Leu) c.1939G>C (p.Val647Leu) c.1165G>C (p.Val389Leu) c.1132G>C (p.Val378Leu) n.2166G>C c.1345G>C (p.Val449Leu) n.2160G>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.53250733C>T | CA413163270 | IQSEC2 | c.2002G>A (p.Val668Ile) c.1843G>A (p.Val615Ile) c.1813G>A (p.Val605Ile) c.1228G>A (p.Val410Ile) c.1939G>A (p.Val647Ile) c.1165G>A (p.Val389Ile) c.1132G>A (p.Val378Ile) n.2166G>A c.1345G>A (p.Val449Ile) n.2160G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53250734A>C | CA516674111 | IQSEC2 | c.2001T>G (p.Ser667=) c.1842T>G (p.Ser614=) c.1812T>G (p.Ser604=) c.1227T>G (p.Ser409=) c.1938T>G (p.Ser646=) c.1164T>G (p.Ser388=) c.1131T>G (p.Ser377=) n.2165T>G c.1344T>G (p.Ser448=) n.2159T>G | |
X | g.53250734A>G | CA516674112 | IQSEC2 | c.2001T>C (p.Ser667=) c.1842T>C (p.Ser614=) c.1812T>C (p.Ser604=) c.1227T>C (p.Ser409=) c.1938T>C (p.Ser646=) c.1164T>C (p.Ser388=) c.1131T>C (p.Ser377=) n.2165T>C c.1344T>C (p.Ser448=) n.2159T>C | |
X | g.53250734A>T | CA516674113 | IQSEC2 | c.2001T>A (p.Ser667=) c.1842T>A (p.Ser614=) c.1812T>A (p.Ser604=) c.1227T>A (p.Ser409=) c.1938T>A (p.Ser646=) c.1164T>A (p.Ser388=) c.1131T>A (p.Ser377=) n.2165T>A c.1344T>A (p.Ser448=) n.2159T>A | |
X | g.53250735G>A | CA413163275 | IQSEC2 | c.2000C>T (p.Ser667Phe) c.1841C>T (p.Ser614Phe) c.1811C>T (p.Ser604Phe) c.1226C>T (p.Ser409Phe) c.1937C>T (p.Ser646Phe) c.1163C>T (p.Ser388Phe) c.1130C>T (p.Ser377Phe) n.2164C>T c.1343C>T (p.Ser448Phe) n.2158C>T | COSMIC COSMIC COSMIC |
X | g.53250735G>C | CA413163273 | IQSEC2 | c.2000C>G (p.Ser667Cys) c.1841C>G (p.Ser614Cys) c.1811C>G (p.Ser604Cys) c.1226C>G (p.Ser409Cys) c.1937C>G (p.Ser646Cys) c.1163C>G (p.Ser388Cys) c.1130C>G (p.Ser377Cys) n.2164C>G c.1343C>G (p.Ser448Cys) n.2158C>G | |
X | g.53250735G>T | CA413163271 | IQSEC2 | c.2000C>A (p.Ser667Tyr) c.1841C>A (p.Ser614Tyr) c.1811C>A (p.Ser604Tyr) c.1226C>A (p.Ser409Tyr) c.1937C>A (p.Ser646Tyr) c.1163C>A (p.Ser388Tyr) c.1130C>A (p.Ser377Tyr) n.2164C>A c.1343C>A (p.Ser448Tyr) n.2158C>A | |
X | g.53250736A>C | CA413163278 | IQSEC2 | c.1999T>G (p.Ser667Ala) c.1840T>G (p.Ser614Ala) c.1810T>G (p.Ser604Ala) c.1225T>G (p.Ser409Ala) c.1936T>G (p.Ser646Ala) c.1162T>G (p.Ser388Ala) c.1129T>G (p.Ser377Ala) n.2163T>G c.1342T>G (p.Ser448Ala) n.2157T>G | |
X | g.53250736A>G | CA413163280 | IQSEC2 | c.1999T>C (p.Ser667Pro) c.1840T>C (p.Ser614Pro) c.1810T>C (p.Ser604Pro) c.1225T>C (p.Ser409Pro) c.1936T>C (p.Ser646Pro) c.1162T>C (p.Ser388Pro) c.1129T>C (p.Ser377Pro) n.2163T>C c.1342T>C (p.Ser448Pro) n.2157T>C | |
X | g.53250736A>T | CA413163282 | IQSEC2 | c.1999T>A (p.Ser667Thr) c.1840T>A (p.Ser614Thr) c.1810T>A (p.Ser604Thr) c.1225T>A (p.Ser409Thr) c.1936T>A (p.Ser646Thr) c.1162T>A (p.Ser388Thr) c.1129T>A (p.Ser377Thr) n.2163T>A c.1342T>A (p.Ser448Thr) n.2157T>A | |
X | g.53250737G>A | CA516674115 | IQSEC2 | c.1998C>T (p.Gly666=) c.1839C>T (p.Gly613=) c.1809C>T (p.Gly603=) c.1224C>T (p.Gly408=) c.1935C>T (p.Gly645=) c.1161C>T (p.Gly387=) c.1128C>T (p.Gly376=) n.2162C>T c.1341C>T (p.Gly447=) n.2156C>T | gnomAD v4 |
X | g.53250737G>C | CA516674116 | IQSEC2 | c.1998C>G (p.Gly666=) c.1839C>G (p.Gly613=) c.1809C>G (p.Gly603=) c.1224C>G (p.Gly408=) c.1935C>G (p.Gly645=) c.1161C>G (p.Gly387=) c.1128C>G (p.Gly376=) n.2162C>G c.1341C>G (p.Gly447=) n.2156C>G | |
X | g.53250737G= | CA2429775629 | IQSEC2 | c.1998C= (p.Gly666=) c.1839C= (p.Gly613=) c.1809C= (p.Gly603=) c.1224C= (p.Gly408=) c.1935C= (p.Gly645=) c.1161C= (p.Gly387=) c.1128C= (p.Gly376=) n.2162C= c.1341C= (p.Gly447=) n.2156C= | |
X | g.53250737G>T | CA516674117 | IQSEC2 | c.1998C>A (p.Gly666=) c.1839C>A (p.Gly613=) c.1809C>A (p.Gly603=) c.1224C>A (p.Gly408=) c.1935C>A (p.Gly645=) c.1161C>A (p.Gly387=) c.1128C>A (p.Gly376=) n.2162C>A c.1341C>A (p.Gly447=) n.2156C>A | dbSNP |
X | g.53250738C>A | CA413163285 | IQSEC2 | c.1997G>T (p.Gly666Val) c.1838G>T (p.Gly613Val) c.1808G>T (p.Gly603Val) c.1223G>T (p.Gly408Val) c.1934G>T (p.Gly645Val) c.1160G>T (p.Gly387Val) c.1127G>T (p.Gly376Val) n.2161G>T c.1340G>T (p.Gly447Val) n.2155G>T | |
X | g.53250738C>G | CA413163288 | IQSEC2 | c.1997G>C (p.Gly666Ala) c.1838G>C (p.Gly613Ala) c.1808G>C (p.Gly603Ala) c.1223G>C (p.Gly408Ala) c.1934G>C (p.Gly645Ala) c.1160G>C (p.Gly387Ala) c.1127G>C (p.Gly376Ala) n.2161G>C c.1340G>C (p.Gly447Ala) n.2155G>C | |
X | g.53250738C>T | CA413163290 | IQSEC2 | c.1997G>A (p.Gly666Asp) c.1838G>A (p.Gly613Asp) c.1808G>A (p.Gly603Asp) c.1223G>A (p.Gly408Asp) c.1934G>A (p.Gly645Asp) c.1160G>A (p.Gly387Asp) c.1127G>A (p.Gly376Asp) n.2161G>A c.1340G>A (p.Gly447Asp) n.2155G>A | |
X | g.53250739dup | CA2843560959 | IQSEC2 | c.1997dup (p.Ser667LeufsTer9) c.1838dup (p.Ser614LeufsTer9) c.1808dup (p.Ser604LeufsTer9) c.1223dup (p.Ser409LeufsTer9) c.1934dup (p.Ser646LeufsTer9) c.1160dup (p.Ser388LeufsTer9) c.1127dup (p.Ser377LeufsTer9) n.2161dup c.1340dup (p.Ser448LeufsTer9) n.2155dup | |
X | g.53250739C>A | CA413163292 | IQSEC2 | c.1996G>T (p.Gly666Cys) c.1837G>T (p.Gly613Cys) c.1807G>T (p.Gly603Cys) c.1222G>T (p.Gly408Cys) c.1933G>T (p.Gly645Cys) c.1159G>T (p.Gly387Cys) c.1126G>T (p.Gly376Cys) n.2160G>T c.1339G>T (p.Gly447Cys) n.2154G>T | COSMIC COSMIC COSMIC |
X | g.53250739C>G | CA413163295 | IQSEC2 | c.1996G>C (p.Gly666Arg) c.1837G>C (p.Gly613Arg) c.1807G>C (p.Gly603Arg) c.1222G>C (p.Gly408Arg) c.1933G>C (p.Gly645Arg) c.1159G>C (p.Gly387Arg) c.1126G>C (p.Gly376Arg) n.2160G>C c.1339G>C (p.Gly447Arg) n.2154G>C | |
X | g.53250739C>T | CA413163294 | IQSEC2 | c.1996G>A (p.Gly666Ser) c.1837G>A (p.Gly613Ser) c.1807G>A (p.Gly603Ser) c.1222G>A (p.Gly408Ser) c.1933G>A (p.Gly645Ser) c.1159G>A (p.Gly387Ser) c.1126G>A (p.Gly376Ser) n.2160G>A c.1339G>A (p.Gly447Ser) n.2154G>A | |
X | g.53250740G>A | CA516674121 | IQSEC2 | c.1995C>T (p.Arg665=) c.1836C>T (p.Arg612=) c.1806C>T (p.Arg602=) c.1221C>T (p.Arg407=) c.1932C>T (p.Arg644=) c.1158C>T (p.Arg386=) c.1125C>T (p.Arg375=) n.2159C>T c.1338C>T (p.Arg446=) n.2153C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53250740G>C | CA516674122 | IQSEC2 | c.1995C>G (p.Arg665=) c.1836C>G (p.Arg612=) c.1806C>G (p.Arg602=) c.1221C>G (p.Arg407=) c.1932C>G (p.Arg644=) c.1158C>G (p.Arg386=) c.1125C>G (p.Arg375=) n.2159C>G c.1338C>G (p.Arg446=) n.2153C>G | |
X | g.53250740G= | CA2429775630 | IQSEC2 | c.1995C= (p.Arg665=) c.1836C= (p.Arg612=) c.1806C= (p.Arg602=) c.1221C= (p.Arg407=) c.1932C= (p.Arg644=) c.1158C= (p.Arg386=) c.1125C= (p.Arg375=) n.2159C= c.1338C= (p.Arg446=) n.2153C= | |
X | g.53250740G>T | CA516674123 | IQSEC2 | c.1995C>A (p.Arg665=) c.1836C>A (p.Arg612=) c.1806C>A (p.Arg602=) c.1221C>A (p.Arg407=) c.1932C>A (p.Arg644=) c.1158C>A (p.Arg386=) c.1125C>A (p.Arg375=) n.2159C>A c.1338C>A (p.Arg446=) n.2153C>A | |
X | g.53250741C>A | CA413163298 | IQSEC2 | c.1994G>T (p.Arg665Leu) c.1835G>T (p.Arg612Leu) c.1805G>T (p.Arg602Leu) c.1220G>T (p.Arg407Leu) c.1931G>T (p.Arg644Leu) c.1157G>T (p.Arg386Leu) c.1124G>T (p.Arg375Leu) n.2158G>T c.1337G>T (p.Arg446Leu) n.2152G>T | |
X | g.53250741C= | CA2429775631 | IQSEC2 | c.1994G= (p.Arg665=) c.1835G= (p.Arg612=) c.1805G= (p.Arg602=) c.1220G= (p.Arg407=) c.1931G= (p.Arg644=) c.1157G= (p.Arg386=) c.1124G= (p.Arg375=) n.2158G= c.1337G= (p.Arg446=) n.2152G= | |
X | g.53250741C>G | CA413163306 | IQSEC2 | c.1994G>C (p.Arg665Pro) c.1835G>C (p.Arg612Pro) c.1805G>C (p.Arg602Pro) c.1220G>C (p.Arg407Pro) c.1931G>C (p.Arg644Pro) c.1157G>C (p.Arg386Pro) c.1124G>C (p.Arg375Pro) n.2158G>C c.1337G>C (p.Arg446Pro) n.2152G>C | |
X | g.53250741C>T | CA413163309 | IQSEC2 | c.1994G>A (p.Arg665His) c.1835G>A (p.Arg612His) c.1805G>A (p.Arg602His) c.1220G>A (p.Arg407His) c.1931G>A (p.Arg644His) c.1157G>A (p.Arg386His) c.1124G>A (p.Arg375His) n.2158G>A c.1337G>A (p.Arg446His) n.2152G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.53250742G>A | CA413163312 | IQSEC2 | c.1993C>T (p.Arg665Cys) c.1834C>T (p.Arg612Cys) c.1804C>T (p.Arg602Cys) c.1219C>T (p.Arg407Cys) c.1930C>T (p.Arg644Cys) c.1156C>T (p.Arg386Cys) c.1123C>T (p.Arg375Cys) n.2157C>T c.1336C>T (p.Arg446Cys) n.2151C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53250742G>C | CA413163314 | IQSEC2 | c.1993C>G (p.Arg665Gly) c.1834C>G (p.Arg612Gly) c.1804C>G (p.Arg602Gly) c.1219C>G (p.Arg407Gly) c.1930C>G (p.Arg644Gly) c.1156C>G (p.Arg386Gly) c.1123C>G (p.Arg375Gly) n.2157C>G c.1336C>G (p.Arg446Gly) n.2151C>G | |
X | g.53250742G= | CA2429775632 | IQSEC2 | c.1993C= (p.Arg665=) c.1834C= (p.Arg612=) c.1804C= (p.Arg602=) c.1219C= (p.Arg407=) c.1930C= (p.Arg644=) c.1156C= (p.Arg386=) c.1123C= (p.Arg375=) n.2157C= c.1336C= (p.Arg446=) n.2151C= | |
X | g.53250742G>T | CA413163315 | IQSEC2 | c.1993C>A (p.Arg665Ser) c.1834C>A (p.Arg612Ser) c.1804C>A (p.Arg602Ser) c.1219C>A (p.Arg407Ser) c.1930C>A (p.Arg644Ser) c.1156C>A (p.Arg386Ser) c.1123C>A (p.Arg375Ser) n.2157C>A c.1336C>A (p.Arg446Ser) n.2151C>A | |
X | g.53250743A>C | CA413163318 | IQSEC2 | c.1992T>G (p.Asp664Glu) c.1833T>G (p.Asp611Glu) c.1803T>G (p.Asp601Glu) c.1218T>G (p.Asp406Glu) c.1929T>G (p.Asp643Glu) c.1155T>G (p.Asp385Glu) c.1122T>G (p.Asp374Glu) n.2156T>G c.1335T>G (p.Asp445Glu) n.2150T>G | |
X | g.53250743A>G | CA516674124 | IQSEC2 | c.1992T>C (p.Asp664=) c.1833T>C (p.Asp611=) c.1803T>C (p.Asp601=) c.1218T>C (p.Asp406=) c.1929T>C (p.Asp643=) c.1155T>C (p.Asp385=) c.1122T>C (p.Asp374=) n.2156T>C c.1335T>C (p.Asp445=) n.2150T>C | |
X | g.53250743A>T | CA413163321 | IQSEC2 | c.1992T>A (p.Asp664Glu) c.1833T>A (p.Asp611Glu) c.1803T>A (p.Asp601Glu) c.1218T>A (p.Asp406Glu) c.1929T>A (p.Asp643Glu) c.1155T>A (p.Asp385Glu) c.1122T>A (p.Asp374Glu) n.2156T>A c.1335T>A (p.Asp445Glu) n.2150T>A | |
X | g.53250744T>A | CA413163323 | IQSEC2 | c.1991A>T (p.Asp664Val) c.1832A>T (p.Asp611Val) c.1802A>T (p.Asp601Val) c.1217A>T (p.Asp406Val) c.1928A>T (p.Asp643Val) c.1154A>T (p.Asp385Val) c.1121A>T (p.Asp374Val) n.2155A>T c.1334A>T (p.Asp445Val) n.2149A>T | |
X | g.53250744T>C | CA413163326 | IQSEC2 | c.1991A>G (p.Asp664Gly) c.1832A>G (p.Asp611Gly) c.1802A>G (p.Asp601Gly) c.1217A>G (p.Asp406Gly) c.1928A>G (p.Asp643Gly) c.1154A>G (p.Asp385Gly) c.1121A>G (p.Asp374Gly) n.2155A>G c.1334A>G (p.Asp445Gly) n.2149A>G | |
X | g.53250744T>G | CA413163328 | IQSEC2 | c.1991A>C (p.Asp664Ala) c.1832A>C (p.Asp611Ala) c.1802A>C (p.Asp601Ala) c.1217A>C (p.Asp406Ala) c.1928A>C (p.Asp643Ala) c.1154A>C (p.Asp385Ala) c.1121A>C (p.Asp374Ala) n.2155A>C c.1334A>C (p.Asp445Ala) n.2149A>C | |
X | g.53250745C>A | CA413163339 | IQSEC2 | c.1990G>T (p.Asp664Tyr) c.1831G>T (p.Asp611Tyr) c.1801G>T (p.Asp601Tyr) c.1216G>T (p.Asp406Tyr) c.1927G>T (p.Asp643Tyr) c.1153G>T (p.Asp385Tyr) c.1120G>T (p.Asp374Tyr) n.2154G>T c.1333G>T (p.Asp445Tyr) n.2148G>T | |
X | g.53250745C>G | CA413163338 | IQSEC2 | c.1990G>C (p.Asp664His) c.1831G>C (p.Asp611His) c.1801G>C (p.Asp601His) c.1216G>C (p.Asp406His) c.1927G>C (p.Asp643His) c.1153G>C (p.Asp385His) c.1120G>C (p.Asp374His) n.2154G>C c.1333G>C (p.Asp445His) n.2148G>C | |
X | g.53250745C>T | CA413163337 | IQSEC2 | c.1990G>A (p.Asp664Asn) c.1831G>A (p.Asp611Asn) c.1801G>A (p.Asp601Asn) c.1216G>A (p.Asp406Asn) c.1927G>A (p.Asp643Asn) c.1153G>A (p.Asp385Asn) c.1120G>A (p.Asp374Asn) n.2154G>A c.1333G>A (p.Asp445Asn) n.2148G>A | |
X | g.53250746T>A | CA516674125 | IQSEC2 | c.1989A>T (p.Ser663=) c.1830A>T (p.Ser610=) c.1800A>T (p.Ser600=) c.1215A>T (p.Ser405=) c.1926A>T (p.Ser642=) c.1152A>T (p.Ser384=) c.1119A>T (p.Ser373=) n.2153A>T c.1332A>T (p.Ser444=) n.2147A>T | |
X | g.53250746T>C | CA516674127 | IQSEC2 | c.1989A>G (p.Ser663=) c.1830A>G (p.Ser610=) c.1800A>G (p.Ser600=) c.1215A>G (p.Ser405=) c.1926A>G (p.Ser642=) c.1152A>G (p.Ser384=) c.1119A>G (p.Ser373=) n.2153A>G c.1332A>G (p.Ser444=) n.2147A>G | |
X | g.53250746T>G | CA516674128 | IQSEC2 | c.1989A>C (p.Ser663=) c.1830A>C (p.Ser610=) c.1800A>C (p.Ser600=) c.1215A>C (p.Ser405=) c.1926A>C (p.Ser642=) c.1152A>C (p.Ser384=) c.1119A>C (p.Ser373=) n.2153A>C c.1332A>C (p.Ser444=) n.2147A>C | |
X | g.53250747G>A | CA413163340 | IQSEC2 | c.1988C>T (p.Ser663Leu) c.1829C>T (p.Ser610Leu) c.1799C>T (p.Ser600Leu) c.1214C>T (p.Ser405Leu) c.1925C>T (p.Ser642Leu) c.1151C>T (p.Ser384Leu) c.1118C>T (p.Ser373Leu) n.2152C>T c.1331C>T (p.Ser444Leu) n.2146C>T | |
X | g.53250747G>C | CA413163341 | IQSEC2 | c.1988C>G (p.Ser663Ter) c.1829C>G (p.Ser610Ter) c.1799C>G (p.Ser600Ter) c.1214C>G (p.Ser405Ter) c.1925C>G (p.Ser642Ter) c.1151C>G (p.Ser384Ter) c.1118C>G (p.Ser373Ter) n.2152C>G c.1331C>G (p.Ser444Ter) n.2146C>G | |
X | g.53250747G>T | CA413163342 | IQSEC2 | c.1988C>A (p.Ser663Ter) c.1829C>A (p.Ser610Ter) c.1799C>A (p.Ser600Ter) c.1214C>A (p.Ser405Ter) c.1925C>A (p.Ser642Ter) c.1151C>A (p.Ser384Ter) c.1118C>A (p.Ser373Ter) n.2152C>A c.1331C>A (p.Ser444Ter) n.2146C>A | |
X | g.53250748A>C | CA413163344 | IQSEC2 | c.1987T>G (p.Ser663Ala) c.1828T>G (p.Ser610Ala) c.1798T>G (p.Ser600Ala) c.1213T>G (p.Ser405Ala) c.1924T>G (p.Ser642Ala) c.1150T>G (p.Ser384Ala) c.1117T>G (p.Ser373Ala) n.2151T>G c.1330T>G (p.Ser444Ala) n.2145T>G | |
X | g.53250748A>G | CA413163346 | IQSEC2 | c.1987T>C (p.Ser663Pro) c.1828T>C (p.Ser610Pro) c.1798T>C (p.Ser600Pro) c.1213T>C (p.Ser405Pro) c.1924T>C (p.Ser642Pro) c.1150T>C (p.Ser384Pro) c.1117T>C (p.Ser373Pro) n.2151T>C c.1330T>C (p.Ser444Pro) n.2145T>C | |
X | g.53250748A>T | CA413163347 | IQSEC2 | c.1987T>A (p.Ser663Thr) c.1828T>A (p.Ser610Thr) c.1798T>A (p.Ser600Thr) c.1213T>A (p.Ser405Thr) c.1924T>A (p.Ser642Thr) c.1150T>A (p.Ser384Thr) c.1117T>A (p.Ser373Thr) n.2151T>A c.1330T>A (p.Ser444Thr) n.2145T>A | |
X | g.53250749G>A | CA516674129 | IQSEC2 | c.1986C>T (p.Arg662=) c.1827C>T (p.Arg609=) c.1797C>T (p.Arg599=) c.1212C>T (p.Arg404=) c.1923C>T (p.Arg641=) c.1149C>T (p.Arg383=) c.1116C>T (p.Arg372=) n.2150C>T c.1329C>T (p.Arg443=) n.2144C>T | |
X | g.53250749G>C | CA516674131 | IQSEC2 | c.1986C>G (p.Arg662=) c.1827C>G (p.Arg609=) c.1797C>G (p.Arg599=) c.1212C>G (p.Arg404=) c.1923C>G (p.Arg641=) c.1149C>G (p.Arg383=) c.1116C>G (p.Arg372=) n.2150C>G c.1329C>G (p.Arg443=) n.2144C>G | |
X | g.53250749G>T | CA516674133 | IQSEC2 | c.1986C>A (p.Arg662=) c.1827C>A (p.Arg609=) c.1797C>A (p.Arg599=) c.1212C>A (p.Arg404=) c.1923C>A (p.Arg641=) c.1149C>A (p.Arg383=) c.1116C>A (p.Arg372=) n.2150C>A c.1329C>A (p.Arg443=) n.2144C>A | |
X | g.53250750C>A | CA413163355 | IQSEC2 | c.1985G>T (p.Arg662Leu) c.1826G>T (p.Arg609Leu) c.1796G>T (p.Arg599Leu) c.1211G>T (p.Arg404Leu) c.1922G>T (p.Arg641Leu) c.1148G>T (p.Arg383Leu) c.1115G>T (p.Arg372Leu) n.2149G>T c.1328G>T (p.Arg443Leu) n.2143G>T | gnomAD v4 |
X | g.53250750C= | CA2429775633 | IQSEC2 | c.1985G= (p.Arg662=) c.1826G= (p.Arg609=) c.1796G= (p.Arg599=) c.1211G= (p.Arg404=) c.1922G= (p.Arg641=) c.1148G= (p.Arg383=) c.1115G= (p.Arg372=) n.2149G= c.1328G= (p.Arg443=) n.2143G= | |
X | g.53250750C>G | CA413163350 | IQSEC2 | c.1985G>C (p.Arg662Pro) c.1826G>C (p.Arg609Pro) c.1796G>C (p.Arg599Pro) c.1211G>C (p.Arg404Pro) c.1922G>C (p.Arg641Pro) c.1148G>C (p.Arg383Pro) c.1115G>C (p.Arg372Pro) n.2149G>C c.1328G>C (p.Arg443Pro) n.2143G>C | |
X | g.53250750C>T | CA413163352 | IQSEC2 | c.1985G>A (p.Arg662His) c.1826G>A (p.Arg609His) c.1796G>A (p.Arg599His) c.1211G>A (p.Arg404His) c.1922G>A (p.Arg641His) c.1148G>A (p.Arg383His) c.1115G>A (p.Arg372His) n.2149G>A c.1328G>A (p.Arg443His) n.2143G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53250751G>A | CA413163358 | IQSEC2 | c.1984C>T (p.Arg662Cys) c.1825C>T (p.Arg609Cys) c.1795C>T (p.Arg599Cys) c.1210C>T (p.Arg404Cys) c.1921C>T (p.Arg641Cys) c.1147C>T (p.Arg383Cys) c.1114C>T (p.Arg372Cys) n.2148C>T c.1327C>T (p.Arg443Cys) n.2142C>T | ClinVar dbSNP gnomAD v4 |
X | g.53250751G>C | CA413163361 | IQSEC2 | c.1984C>G (p.Arg662Gly) c.1825C>G (p.Arg609Gly) c.1795C>G (p.Arg599Gly) c.1210C>G (p.Arg404Gly) c.1921C>G (p.Arg641Gly) c.1147C>G (p.Arg383Gly) c.1114C>G (p.Arg372Gly) n.2148C>G c.1327C>G (p.Arg443Gly) n.2142C>G | |
X | g.53250751G= | CA2429775634 | IQSEC2 | c.1984C= (p.Arg662=) c.1825C= (p.Arg609=) c.1795C= (p.Arg599=) c.1210C= (p.Arg404=) c.1921C= (p.Arg641=) c.1147C= (p.Arg383=) c.1114C= (p.Arg372=) n.2148C= c.1327C= (p.Arg443=) n.2142C= | |
X | g.53250751G>T | CA413163363 | IQSEC2 | c.1984C>A (p.Arg662Ser) c.1825C>A (p.Arg609Ser) c.1795C>A (p.Arg599Ser) c.1210C>A (p.Arg404Ser) c.1921C>A (p.Arg641Ser) c.1147C>A (p.Arg383Ser) c.1114C>A (p.Arg372Ser) n.2148C>A c.1327C>A (p.Arg443Ser) n.2142C>A | |
X | g.53250752G>A | CA516674136 | IQSEC2 | c.1983C>T (p.Asp661=) c.1824C>T (p.Asp608=) c.1794C>T (p.Asp598=) c.1209C>T (p.Asp403=) c.1920C>T (p.Asp640=) c.1146C>T (p.Asp382=) c.1113C>T (p.Asp371=) n.2147C>T c.1326C>T (p.Asp442=) n.2141C>T | |
X | g.53250752G>C | CA413163367 | IQSEC2 | c.1983C>G (p.Asp661Glu) c.1824C>G (p.Asp608Glu) c.1794C>G (p.Asp598Glu) c.1209C>G (p.Asp403Glu) c.1920C>G (p.Asp640Glu) c.1146C>G (p.Asp382Glu) c.1113C>G (p.Asp371Glu) n.2147C>G c.1326C>G (p.Asp442Glu) n.2141C>G | |
X | g.53250752G>T | CA413163368 | IQSEC2 | c.1983C>A (p.Asp661Glu) c.1824C>A (p.Asp608Glu) c.1794C>A (p.Asp598Glu) c.1209C>A (p.Asp403Glu) c.1920C>A (p.Asp640Glu) c.1146C>A (p.Asp382Glu) c.1113C>A (p.Asp371Glu) n.2147C>A c.1326C>A (p.Asp442Glu) n.2141C>A | |
X | g.53250753T>A | CA413163372 | IQSEC2 | c.1982A>T (p.Asp661Val) c.1823A>T (p.Asp608Val) c.1793A>T (p.Asp598Val) c.1208A>T (p.Asp403Val) c.1919A>T (p.Asp640Val) c.1145A>T (p.Asp382Val) c.1112A>T (p.Asp371Val) n.2146A>T c.1325A>T (p.Asp442Val) n.2140A>T | |
X | g.53250753T>C | CA413163378 | IQSEC2 | c.1982A>G (p.Asp661Gly) c.1823A>G (p.Asp608Gly) c.1793A>G (p.Asp598Gly) c.1208A>G (p.Asp403Gly) c.1919A>G (p.Asp640Gly) c.1145A>G (p.Asp382Gly) c.1112A>G (p.Asp371Gly) n.2146A>G c.1325A>G (p.Asp442Gly) n.2140A>G | |
X | g.53250753T>G | CA413163375 | IQSEC2 | c.1982A>C (p.Asp661Ala) c.1823A>C (p.Asp608Ala) c.1793A>C (p.Asp598Ala) c.1208A>C (p.Asp403Ala) c.1919A>C (p.Asp640Ala) c.1145A>C (p.Asp382Ala) c.1112A>C (p.Asp371Ala) n.2146A>C c.1325A>C (p.Asp442Ala) n.2140A>C | |
X | g.53250754C>A | CA413163382 | IQSEC2 | c.1981G>T (p.Asp661Tyr) c.1822G>T (p.Asp608Tyr) c.1792G>T (p.Asp598Tyr) c.1207G>T (p.Asp403Tyr) c.1918G>T (p.Asp640Tyr) c.1144G>T (p.Asp382Tyr) c.1111G>T (p.Asp371Tyr) n.2145G>T c.1324G>T (p.Asp442Tyr) n.2139G>T | |
X | g.53250754C>G | CA413163389 | IQSEC2 | c.1981G>C (p.Asp661His) c.1822G>C (p.Asp608His) c.1792G>C (p.Asp598His) c.1207G>C (p.Asp403His) c.1918G>C (p.Asp640His) c.1144G>C (p.Asp382His) c.1111G>C (p.Asp371His) n.2145G>C c.1324G>C (p.Asp442His) n.2139G>C | |
X | g.53250754C>T | CA413163392 | IQSEC2 | c.1981G>A (p.Asp661Asn) c.1822G>A (p.Asp608Asn) c.1792G>A (p.Asp598Asn) c.1207G>A (p.Asp403Asn) c.1918G>A (p.Asp640Asn) c.1144G>A (p.Asp382Asn) c.1111G>A (p.Asp371Asn) n.2145G>A c.1324G>A (p.Asp442Asn) n.2139G>A | |
X | g.53250755A>C | CA413163396 | IQSEC2 | c.1980T>G (p.Ser660Arg) c.1821T>G (p.Ser607Arg) c.1791T>G (p.Ser597Arg) c.1206T>G (p.Ser402Arg) c.1917T>G (p.Ser639Arg) c.1143T>G (p.Ser381Arg) c.1110T>G (p.Ser370Arg) n.2144T>G c.1323T>G (p.Ser441Arg) n.2138T>G | |
X | g.53250755A>G | CA516674145 | IQSEC2 | c.1980T>C (p.Ser660=) c.1821T>C (p.Ser607=) c.1791T>C (p.Ser597=) c.1206T>C (p.Ser402=) c.1917T>C (p.Ser639=) c.1143T>C (p.Ser381=) c.1110T>C (p.Ser370=) n.2144T>C c.1323T>C (p.Ser441=) n.2138T>C | |
X | g.53250755A>T | CA413163400 | IQSEC2 | c.1980T>A (p.Ser660Arg) c.1821T>A (p.Ser607Arg) c.1791T>A (p.Ser597Arg) c.1206T>A (p.Ser402Arg) c.1917T>A (p.Ser639Arg) c.1143T>A (p.Ser381Arg) c.1110T>A (p.Ser370Arg) n.2144T>A c.1323T>A (p.Ser441Arg) n.2138T>A | |
X | g.53250756C>A | CA413163405 | IQSEC2 | c.1979G>T (p.Ser660Ile) c.1820G>T (p.Ser607Ile) c.1790G>T (p.Ser597Ile) c.1205G>T (p.Ser402Ile) c.1916G>T (p.Ser639Ile) c.1142G>T (p.Ser381Ile) c.1109G>T (p.Ser370Ile) n.2143G>T c.1322G>T (p.Ser441Ile) n.2137G>T | |
X | g.53250756C>G | CA413163409 | IQSEC2 | c.1979G>C (p.Ser660Thr) c.1820G>C (p.Ser607Thr) c.1790G>C (p.Ser597Thr) c.1205G>C (p.Ser402Thr) c.1916G>C (p.Ser639Thr) c.1142G>C (p.Ser381Thr) c.1109G>C (p.Ser370Thr) n.2143G>C c.1322G>C (p.Ser441Thr) n.2137G>C | |
X | g.53250756C>T | CA413163413 | IQSEC2 | c.1979G>A (p.Ser660Asn) c.1820G>A (p.Ser607Asn) c.1790G>A (p.Ser597Asn) c.1205G>A (p.Ser402Asn) c.1916G>A (p.Ser639Asn) c.1142G>A (p.Ser381Asn) c.1109G>A (p.Ser370Asn) n.2143G>A c.1322G>A (p.Ser441Asn) n.2137G>A | |
X | g.53250757T>A | CA413163417 | IQSEC2 | c.1978A>T (p.Ser660Cys) c.1819A>T (p.Ser607Cys) c.1789A>T (p.Ser597Cys) c.1204A>T (p.Ser402Cys) c.1915A>T (p.Ser639Cys) c.1141A>T (p.Ser381Cys) c.1108A>T (p.Ser370Cys) n.2142A>T c.1321A>T (p.Ser441Cys) n.2136A>T | |
X | g.53250757T>C | CA413163420 | IQSEC2 | c.1978A>G (p.Ser660Gly) c.1819A>G (p.Ser607Gly) c.1789A>G (p.Ser597Gly) c.1204A>G (p.Ser402Gly) c.1915A>G (p.Ser639Gly) c.1141A>G (p.Ser381Gly) c.1108A>G (p.Ser370Gly) n.2142A>G c.1321A>G (p.Ser441Gly) n.2136A>G | |
X | g.53250757T>G | CA413163424 | IQSEC2 | c.1978A>C (p.Ser660Arg) c.1819A>C (p.Ser607Arg) c.1789A>C (p.Ser597Arg) c.1204A>C (p.Ser402Arg) c.1915A>C (p.Ser639Arg) c.1141A>C (p.Ser381Arg) c.1108A>C (p.Ser370Arg) n.2142A>C c.1321A>C (p.Ser441Arg) n.2136A>C | ClinVar |
X | g.53250758C>A | CA516674149 | IQSEC2 | c.1977G>T (p.Leu659=) c.1818G>T (p.Leu606=) c.1788G>T (p.Leu596=) c.1203G>T (p.Leu401=) c.1914G>T (p.Leu638=) c.1140G>T (p.Leu380=) c.1107G>T (p.Leu369=) n.2141G>T c.1320G>T (p.Leu440=) n.2135G>T | |
X | g.53250758C= | CA2429775635 | IQSEC2 | c.1977G= (p.Leu659=) c.1818G= (p.Leu606=) c.1788G= (p.Leu596=) c.1203G= (p.Leu401=) c.1914G= (p.Leu638=) c.1140G= (p.Leu380=) c.1107G= (p.Leu369=) n.2141G= c.1320G= (p.Leu440=) n.2135G= | |
X | g.53250758C>G | CA516674150 | IQSEC2 | c.1977G>C (p.Leu659=) c.1818G>C (p.Leu606=) c.1788G>C (p.Leu596=) c.1203G>C (p.Leu401=) c.1914G>C (p.Leu638=) c.1140G>C (p.Leu380=) c.1107G>C (p.Leu369=) n.2141G>C c.1320G>C (p.Leu440=) n.2135G>C | |
X | g.53250758C>T | CA516674151 | IQSEC2 | c.1977G>A (p.Leu659=) c.1818G>A (p.Leu606=) c.1788G>A (p.Leu596=) c.1203G>A (p.Leu401=) c.1914G>A (p.Leu638=) c.1140G>A (p.Leu380=) c.1107G>A (p.Leu369=) n.2141G>A c.1320G>A (p.Leu440=) n.2135G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.53250759A>C | CA413163438 | IQSEC2 | c.1976T>G (p.Leu659Arg) c.1817T>G (p.Leu606Arg) c.1787T>G (p.Leu596Arg) c.1202T>G (p.Leu401Arg) c.1913T>G (p.Leu638Arg) c.1139T>G (p.Leu380Arg) c.1106T>G (p.Leu369Arg) n.2140T>G c.1319T>G (p.Leu440Arg) n.2134T>G | |
X | g.53250759A>G | CA413163436 | IQSEC2 | c.1976T>C (p.Leu659Pro) c.1817T>C (p.Leu606Pro) c.1787T>C (p.Leu596Pro) c.1202T>C (p.Leu401Pro) c.1913T>C (p.Leu638Pro) c.1139T>C (p.Leu380Pro) c.1106T>C (p.Leu369Pro) n.2140T>C c.1319T>C (p.Leu440Pro) n.2134T>C | |
X | g.53250759A>T | CA413163433 | IQSEC2 | c.1976T>A (p.Leu659Gln) c.1817T>A (p.Leu606Gln) c.1787T>A (p.Leu596Gln) c.1202T>A (p.Leu401Gln) c.1913T>A (p.Leu638Gln) c.1139T>A (p.Leu380Gln) c.1106T>A (p.Leu369Gln) n.2140T>A c.1319T>A (p.Leu440Gln) n.2134T>A | |
X | g.53250760G>A | CA516674155 | IQSEC2 | c.1975C>T (p.Leu659=) c.1816C>T (p.Leu606=) c.1786C>T (p.Leu596=) c.1201C>T (p.Leu401=) c.1912C>T (p.Leu638=) c.1138C>T (p.Leu380=) c.1105C>T (p.Leu369=) n.2139C>T c.1318C>T (p.Leu440=) n.2133C>T | ClinVar dbSNP gnomAD v4 |
X | g.53250760G>C | CA413163439 | IQSEC2 | c.1975C>G (p.Leu659Val) c.1816C>G (p.Leu606Val) c.1786C>G (p.Leu596Val) c.1201C>G (p.Leu401Val) c.1912C>G (p.Leu638Val) c.1138C>G (p.Leu380Val) c.1105C>G (p.Leu369Val) n.2139C>G c.1318C>G (p.Leu440Val) n.2133C>G | |
X | g.53250760G>T | CA413163440 | IQSEC2 | c.1975C>A (p.Leu659Met) c.1816C>A (p.Leu606Met) c.1786C>A (p.Leu596Met) c.1201C>A (p.Leu401Met) c.1912C>A (p.Leu638Met) c.1138C>A (p.Leu380Met) c.1105C>A (p.Leu369Met) n.2139C>A c.1318C>A (p.Leu440Met) n.2133C>A | |
X | g.53250761G>A | CA516674156 | IQSEC2 | c.1974C>T (p.Asp658=) c.1815C>T (p.Asp605=) c.1785C>T (p.Asp595=) c.1200C>T (p.Asp400=) c.1911C>T (p.Asp637=) c.1137C>T (p.Asp379=) c.1104C>T (p.Asp368=) n.2138C>T c.1317C>T (p.Asp439=) n.2132C>T | |
X | g.53250761G>C | CA413163441 | IQSEC2 | c.1974C>G (p.Asp658Glu) c.1815C>G (p.Asp605Glu) c.1785C>G (p.Asp595Glu) c.1200C>G (p.Asp400Glu) c.1911C>G (p.Asp637Glu) c.1137C>G (p.Asp379Glu) c.1104C>G (p.Asp368Glu) n.2138C>G c.1317C>G (p.Asp439Glu) n.2132C>G | |
X | g.53250761G>T | CA413163444 | IQSEC2 | c.1974C>A (p.Asp658Glu) c.1815C>A (p.Asp605Glu) c.1785C>A (p.Asp595Glu) c.1200C>A (p.Asp400Glu) c.1911C>A (p.Asp637Glu) c.1137C>A (p.Asp379Glu) c.1104C>A (p.Asp368Glu) n.2138C>A c.1317C>A (p.Asp439Glu) n.2132C>A | gnomAD v4 |
X | g.53250762T>A | CA413163448 | IQSEC2 | c.1973A>T (p.Asp658Val) c.1814A>T (p.Asp605Val) c.1784A>T (p.Asp595Val) c.1199A>T (p.Asp400Val) c.1910A>T (p.Asp637Val) c.1136A>T (p.Asp379Val) c.1103A>T (p.Asp368Val) n.2137A>T c.1316A>T (p.Asp439Val) n.2131A>T | |
X | g.53250762T>C | CA413163455 | IQSEC2 | c.1973A>G (p.Asp658Gly) c.1814A>G (p.Asp605Gly) c.1784A>G (p.Asp595Gly) c.1199A>G (p.Asp400Gly) c.1910A>G (p.Asp637Gly) c.1136A>G (p.Asp379Gly) c.1103A>G (p.Asp368Gly) n.2137A>G c.1316A>G (p.Asp439Gly) n.2131A>G | |
X | g.53250762T>G | CA413163458 | IQSEC2 | c.1973A>C (p.Asp658Ala) c.1814A>C (p.Asp605Ala) c.1784A>C (p.Asp595Ala) c.1199A>C (p.Asp400Ala) c.1910A>C (p.Asp637Ala) c.1136A>C (p.Asp379Ala) c.1103A>C (p.Asp368Ala) n.2137A>C c.1316A>C (p.Asp439Ala) n.2131A>C | |
X | g.53250762_53250763del | CA2695233930 | IQSEC2 | c.1972_1973del (p.Asp658ProfsTer3) c.1813_1814del (p.Asp605ProfsTer3) c.1783_1784del (p.Asp595ProfsTer3) c.1198_1199del (p.Asp400ProfsTer3) c.1909_1910del (p.Asp637ProfsTer3) c.1135_1136del (p.Asp379ProfsTer3) c.1102_1103del (p.Asp368ProfsTer3) n.2136_2137del c.1315_1316del (p.Asp439ProfsTer3) n.2130_2131del | |
X | g.53250762_53250763delinsTC | CA2429775636 | IQSEC2 | c.1972_1973delinsGA (p.Asp658=) c.1813_1814delinsGA (p.Asp605=) c.1783_1784delinsGA (p.Asp595=) c.1198_1199delinsGA (p.Asp400=) c.1909_1910delinsGA (p.Asp637=) c.1135_1136delinsGA (p.Asp379=) c.1102_1103delinsGA (p.Asp368=) n.2136_2137delinsGA c.1315_1316delinsGA (p.Asp439=) n.2130_2131delinsGA | |
X | g.53250763C>A | CA413163480 | IQSEC2 | c.1972G>T (p.Asp658Tyr) c.1813G>T (p.Asp605Tyr) c.1783G>T (p.Asp595Tyr) c.1198G>T (p.Asp400Tyr) c.1909G>T (p.Asp637Tyr) c.1135G>T (p.Asp379Tyr) c.1102G>T (p.Asp368Tyr) n.2136G>T c.1315G>T (p.Asp439Tyr) n.2130G>T | |
X | g.53250763C>G | CA413163481 | IQSEC2 | c.1972G>C (p.Asp658His) c.1813G>C (p.Asp605His) c.1783G>C (p.Asp595His) c.1198G>C (p.Asp400His) c.1909G>C (p.Asp637His) c.1135G>C (p.Asp379His) c.1102G>C (p.Asp368His) n.2136G>C c.1315G>C (p.Asp439His) n.2130G>C | |
X | g.53250763C>T | CA413163485 | IQSEC2 | c.1972G>A (p.Asp658Asn) c.1813G>A (p.Asp605Asn) c.1783G>A (p.Asp595Asn) c.1198G>A (p.Asp400Asn) c.1909G>A (p.Asp637Asn) c.1135G>A (p.Asp379Asn) c.1102G>A (p.Asp368Asn) n.2136G>A c.1315G>A (p.Asp439Asn) n.2130G>A | |
X | g.53250764del | CA1139667569 | IQSEC2 | c.1972del (p.Asp658ThrfsTer2) c.1813del (p.Asp605ThrfsTer2) c.1783del (p.Asp595ThrfsTer2) c.1198del (p.Asp400ThrfsTer2) c.1909del (p.Asp637ThrfsTer2) c.1135del (p.Asp379ThrfsTer2) c.1102del (p.Asp368ThrfsTer2) n.2136del c.1315del (p.Asp439ThrfsTer2) n.2130del | ClinVar dbSNP |
X | g.53250764C>A | CA516674160 | IQSEC2 | c.1971G>T (p.Val657=) c.1812G>T (p.Val604=) c.1782G>T (p.Val594=) c.1197G>T (p.Val399=) c.1908G>T (p.Val636=) c.1134G>T (p.Val378=) c.1101G>T (p.Val367=) n.2135G>T c.1314G>T (p.Val438=) n.2129G>T | |
X | g.53250764C>G | CA516674161 | IQSEC2 | c.1971G>C (p.Val657=) c.1812G>C (p.Val604=) c.1782G>C (p.Val594=) c.1197G>C (p.Val399=) c.1908G>C (p.Val636=) c.1134G>C (p.Val378=) c.1101G>C (p.Val367=) n.2135G>C c.1314G>C (p.Val438=) n.2129G>C | ClinVar dbSNP |
X | g.53250764C>T | CA516674162 | IQSEC2 | c.1971G>A (p.Val657=) c.1812G>A (p.Val604=) c.1782G>A (p.Val594=) c.1197G>A (p.Val399=) c.1908G>A (p.Val636=) c.1134G>A (p.Val378=) c.1101G>A (p.Val367=) n.2135G>A c.1314G>A (p.Val438=) n.2129G>A |