Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53250761G>ACA516674156IQSEC2c.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
Xg.53250761G>CCA413163441IQSEC2c.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
Xg.53250761G>TCA413163444IQSEC2c.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
Xg.53250762T>ACA413163448IQSEC2c.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
Xg.53250762T>CCA413163455IQSEC2c.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
Xg.53250762T>GCA413163458IQSEC2c.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
Xg.53250762_53250763delCA2695233930IQSEC2c.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
Xg.53250762_53250763delinsTCCA2429775636IQSEC2c.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
Xg.53250763C>ACA413163480IQSEC2c.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
Xg.53250763C>GCA413163481IQSEC2c.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
Xg.53250763C>TCA413163485IQSEC2c.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
Xg.53250764delCA1139667569IQSEC2c.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
Xg.53250764C>ACA516674160IQSEC2c.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
Xg.53250764C>GCA516674161IQSEC2c.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
Xg.53250764C>TCA516674162IQSEC2c.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
Xg.53250765A>CCA413163486IQSEC2c.1970T>G (p.Val657Gly)
c.1811T>G (p.Val604Gly)
c.1781T>G (p.Val594Gly)
c.1196T>G (p.Val399Gly)
c.1907T>G (p.Val636Gly)
c.1133T>G (p.Val378Gly)
c.1100T>G (p.Val367Gly)
n.2134T>G
c.1313T>G (p.Val438Gly)
n.2128T>G
Xg.53250765A>GCA413163487IQSEC2c.1970T>C (p.Val657Ala)
c.1811T>C (p.Val604Ala)
c.1781T>C (p.Val594Ala)
c.1196T>C (p.Val399Ala)
c.1907T>C (p.Val636Ala)
c.1133T>C (p.Val378Ala)
c.1100T>C (p.Val367Ala)
n.2134T>C
c.1313T>C (p.Val438Ala)
n.2128T>C
Xg.53250765A>TCA413163490IQSEC2c.1970T>A (p.Val657Glu)
c.1811T>A (p.Val604Glu)
c.1781T>A (p.Val594Glu)
c.1196T>A (p.Val399Glu)
c.1907T>A (p.Val636Glu)
c.1133T>A (p.Val378Glu)
c.1100T>A (p.Val367Glu)
n.2134T>A
c.1313T>A (p.Val438Glu)
n.2128T>A
Xg.53250766C>ACA413163493IQSEC2c.1969G>T (p.Val657Leu)
c.1810G>T (p.Val604Leu)
c.1780G>T (p.Val594Leu)
c.1195G>T (p.Val399Leu)
c.1906G>T (p.Val636Leu)
c.1132G>T (p.Val378Leu)
c.1099G>T (p.Val367Leu)
n.2133G>T
c.1312G>T (p.Val438Leu)
n.2127G>T
Xg.53250766C=CA2429775637IQSEC2c.1969G= (p.Val657=)
c.1810G= (p.Val604=)
c.1780G= (p.Val594=)
c.1195G= (p.Val399=)
c.1906G= (p.Val636=)
c.1132G= (p.Val378=)
c.1099G= (p.Val367=)
n.2133G=
c.1312G= (p.Val438=)
n.2127G=
Xg.53250766C>GCA413163498IQSEC2c.1969G>C (p.Val657Leu)
c.1810G>C (p.Val604Leu)
c.1780G>C (p.Val594Leu)
c.1195G>C (p.Val399Leu)
c.1906G>C (p.Val636Leu)
c.1132G>C (p.Val378Leu)
c.1099G>C (p.Val367Leu)
n.2133G>C
c.1312G>C (p.Val438Leu)
n.2127G>C
Xg.53250766C>TCA413163500IQSEC2c.1969G>A (p.Val657Met)
c.1810G>A (p.Val604Met)
c.1780G>A (p.Val594Met)
c.1195G>A (p.Val399Met)
c.1906G>A (p.Val636Met)
c.1132G>A (p.Val378Met)
c.1099G>A (p.Val367Met)
n.2133G>A
c.1312G>A (p.Val438Met)
n.2127G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53250767G>ACA516673885IQSEC2c.1968C>T (p.Ser656=)
c.1809C>T (p.Ser603=)
c.1779C>T (p.Ser593=)
c.1194C>T (p.Ser398=)
c.1905C>T (p.Ser635=)
c.1131C>T (p.Ser377=)
c.1098C>T (p.Ser366=)
n.2132C>T
c.1311C>T (p.Ser437=)
n.2126C>T
 ClinVar dbSNP gnomAD v4
Xg.53250767G>CCA516673887IQSEC2c.1968C>G (p.Ser656=)
c.1809C>G (p.Ser603=)
c.1779C>G (p.Ser593=)
c.1194C>G (p.Ser398=)
c.1905C>G (p.Ser635=)
c.1131C>G (p.Ser377=)
c.1098C>G (p.Ser366=)
n.2132C>G
c.1311C>G (p.Ser437=)
n.2126C>G
 gnomAD v4
Xg.53250767G=CA2429775638IQSEC2c.1968C= (p.Ser656=)
c.1809C= (p.Ser603=)
c.1779C= (p.Ser593=)
c.1194C= (p.Ser398=)
c.1905C= (p.Ser635=)
c.1131C= (p.Ser377=)
c.1098C= (p.Ser366=)
n.2132C=
c.1311C= (p.Ser437=)
n.2126C=
Xg.53250767G>TCA516673888IQSEC2c.1968C>A (p.Ser656=)
c.1809C>A (p.Ser603=)
c.1779C>A (p.Ser593=)
c.1194C>A (p.Ser398=)
c.1905C>A (p.Ser635=)
c.1131C>A (p.Ser377=)
c.1098C>A (p.Ser366=)
n.2132C>A
c.1311C>A (p.Ser437=)
n.2126C>A
Xg.53250768G>ACA413163522IQSEC2c.1967C>T (p.Ser656Phe)
c.1808C>T (p.Ser603Phe)
c.1778C>T (p.Ser593Phe)
c.1193C>T (p.Ser398Phe)
c.1904C>T (p.Ser635Phe)
c.1130C>T (p.Ser377Phe)
c.1097C>T (p.Ser366Phe)
n.2131C>T
c.1310C>T (p.Ser437Phe)
n.2125C>T
Xg.53250768G>CCA413163514IQSEC2c.1967C>G (p.Ser656Cys)
c.1808C>G (p.Ser603Cys)
c.1778C>G (p.Ser593Cys)
c.1193C>G (p.Ser398Cys)
c.1904C>G (p.Ser635Cys)
c.1130C>G (p.Ser377Cys)
c.1097C>G (p.Ser366Cys)
n.2131C>G
c.1310C>G (p.Ser437Cys)
n.2125C>G
Xg.53250768G>TCA413163518IQSEC2c.1967C>A (p.Ser656Tyr)
c.1808C>A (p.Ser603Tyr)
c.1778C>A (p.Ser593Tyr)
c.1193C>A (p.Ser398Tyr)
c.1904C>A (p.Ser635Tyr)
c.1130C>A (p.Ser377Tyr)
c.1097C>A (p.Ser366Tyr)
n.2131C>A
c.1310C>A (p.Ser437Tyr)
n.2125C>A
Xg.53250769A>CCA413163523IQSEC2c.1966T>G (p.Ser656Ala)
c.1807T>G (p.Ser603Ala)
c.1777T>G (p.Ser593Ala)
c.1192T>G (p.Ser398Ala)
c.1903T>G (p.Ser635Ala)
c.1129T>G (p.Ser377Ala)
c.1096T>G (p.Ser366Ala)
n.2130T>G
c.1309T>G (p.Ser437Ala)
n.2124T>G
Xg.53250769A>GCA413163524IQSEC2c.1966T>C (p.Ser656Pro)
c.1807T>C (p.Ser603Pro)
c.1777T>C (p.Ser593Pro)
c.1192T>C (p.Ser398Pro)
c.1903T>C (p.Ser635Pro)
c.1129T>C (p.Ser377Pro)
c.1096T>C (p.Ser366Pro)
n.2130T>C
c.1309T>C (p.Ser437Pro)
n.2124T>C
Xg.53250769A>TCA413163525IQSEC2c.1966T>A (p.Ser656Thr)
c.1807T>A (p.Ser603Thr)
c.1777T>A (p.Ser593Thr)
c.1192T>A (p.Ser398Thr)
c.1903T>A (p.Ser635Thr)
c.1129T>A (p.Ser377Thr)
c.1096T>A (p.Ser366Thr)
n.2130T>A
c.1309T>A (p.Ser437Thr)
n.2124T>A
Xg.53250770G>ACA516673895IQSEC2c.1965C>T (p.Ser655=)
c.1806C>T (p.Ser602=)
c.1776C>T (p.Ser592=)
c.1191C>T (p.Ser397=)
c.1902C>T (p.Ser634=)
c.1128C>T (p.Ser376=)
c.1095C>T (p.Ser365=)
n.2129C>T
c.1308C>T (p.Ser436=)
n.2123C>T
Xg.53250770G>CCA413163528IQSEC2c.1965C>G (p.Ser655Arg)
c.1806C>G (p.Ser602Arg)
c.1776C>G (p.Ser592Arg)
c.1191C>G (p.Ser397Arg)
c.1902C>G (p.Ser634Arg)
c.1128C>G (p.Ser376Arg)
c.1095C>G (p.Ser365Arg)
n.2129C>G
c.1308C>G (p.Ser436Arg)
n.2123C>G
Xg.53250770G>TCA413163529IQSEC2c.1965C>A (p.Ser655Arg)
c.1806C>A (p.Ser602Arg)
c.1776C>A (p.Ser592Arg)
c.1191C>A (p.Ser397Arg)
c.1902C>A (p.Ser634Arg)
c.1128C>A (p.Ser376Arg)
c.1095C>A (p.Ser365Arg)
n.2129C>A
c.1308C>A (p.Ser436Arg)
n.2123C>A
Xg.53250771C>ACA413163531IQSEC2c.1964G>T (p.Ser655Ile)
c.1805G>T (p.Ser602Ile)
c.1775G>T (p.Ser592Ile)
c.1190G>T (p.Ser397Ile)
c.1901G>T (p.Ser634Ile)
c.1127G>T (p.Ser376Ile)
c.1094G>T (p.Ser365Ile)
n.2128G>T
c.1307G>T (p.Ser436Ile)
n.2122G>T
Xg.53250771C>GCA413163534IQSEC2c.1964G>C (p.Ser655Thr)
c.1805G>C (p.Ser602Thr)
c.1775G>C (p.Ser592Thr)
c.1190G>C (p.Ser397Thr)
c.1901G>C (p.Ser634Thr)
c.1127G>C (p.Ser376Thr)
c.1094G>C (p.Ser365Thr)
n.2128G>C
c.1307G>C (p.Ser436Thr)
n.2122G>C
Xg.53250771C>TCA413163537IQSEC2c.1964G>A (p.Ser655Asn)
c.1805G>A (p.Ser602Asn)
c.1775G>A (p.Ser592Asn)
c.1190G>A (p.Ser397Asn)
c.1901G>A (p.Ser634Asn)
c.1127G>A (p.Ser376Asn)
c.1094G>A (p.Ser365Asn)
n.2128G>A
c.1307G>A (p.Ser436Asn)
n.2122G>A
Xg.53250772T>ACA413163539IQSEC2c.1963A>T (p.Ser655Cys)
c.1804A>T (p.Ser602Cys)
c.1774A>T (p.Ser592Cys)
c.1189A>T (p.Ser397Cys)
c.1900A>T (p.Ser634Cys)
c.1126A>T (p.Ser376Cys)
c.1093A>T (p.Ser365Cys)
n.2127A>T
c.1306A>T (p.Ser436Cys)
n.2121A>T
Xg.53250772T>CCA413163542IQSEC2c.1963A>G (p.Ser655Gly)
c.1804A>G (p.Ser602Gly)
c.1774A>G (p.Ser592Gly)
c.1189A>G (p.Ser397Gly)
c.1900A>G (p.Ser634Gly)
c.1126A>G (p.Ser376Gly)
c.1093A>G (p.Ser365Gly)
n.2127A>G
c.1306A>G (p.Ser436Gly)
n.2121A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53250772T>GCA413163547IQSEC2c.1963A>C (p.Ser655Arg)
c.1804A>C (p.Ser602Arg)
c.1774A>C (p.Ser592Arg)
c.1189A>C (p.Ser397Arg)
c.1900A>C (p.Ser634Arg)
c.1126A>C (p.Ser376Arg)
c.1093A>C (p.Ser365Arg)
n.2127A>C
c.1306A>C (p.Ser436Arg)
n.2121A>C
 gnomAD v4
Xg.53250772T=CA2429775639IQSEC2c.1963A= (p.Ser655=)
c.1804A= (p.Ser602=)
c.1774A= (p.Ser592=)
c.1189A= (p.Ser397=)
c.1900A= (p.Ser634=)
c.1126A= (p.Ser376=)
c.1093A= (p.Ser365=)
n.2127A=
c.1306A= (p.Ser436=)
n.2121A=
Xg.53250773G>ACA516673903IQSEC2c.1962C>T (p.Asp654=)
c.1803C>T (p.Asp601=)
c.1773C>T (p.Asp591=)
c.1188C>T (p.Asp396=)
c.1899C>T (p.Asp633=)
c.1125C>T (p.Asp375=)
c.1092C>T (p.Asp364=)
n.2126C>T
c.1305C>T (p.Asp435=)
n.2120C>T
Xg.53250773G>CCA413163552IQSEC2c.1962C>G (p.Asp654Glu)
c.1803C>G (p.Asp601Glu)
c.1773C>G (p.Asp591Glu)
c.1188C>G (p.Asp396Glu)
c.1899C>G (p.Asp633Glu)
c.1125C>G (p.Asp375Glu)
c.1092C>G (p.Asp364Glu)
n.2126C>G
c.1305C>G (p.Asp435Glu)
n.2120C>G
Xg.53250773G>TCA413163550IQSEC2c.1962C>A (p.Asp654Glu)
c.1803C>A (p.Asp601Glu)
c.1773C>A (p.Asp591Glu)
c.1188C>A (p.Asp396Glu)
c.1899C>A (p.Asp633Glu)
c.1125C>A (p.Asp375Glu)
c.1092C>A (p.Asp364Glu)
n.2126C>A
c.1305C>A (p.Asp435Glu)
n.2120C>A
Xg.53250774T>ACA413163556IQSEC2c.1961A>T (p.Asp654Val)
c.1802A>T (p.Asp601Val)
c.1772A>T (p.Asp591Val)
c.1187A>T (p.Asp396Val)
c.1898A>T (p.Asp633Val)
c.1124A>T (p.Asp375Val)
c.1091A>T (p.Asp364Val)
n.2125A>T
c.1304A>T (p.Asp435Val)
n.2119A>T
Xg.53250774T>CCA413163560IQSEC2c.1961A>G (p.Asp654Gly)
c.1802A>G (p.Asp601Gly)
c.1772A>G (p.Asp591Gly)
c.1187A>G (p.Asp396Gly)
c.1898A>G (p.Asp633Gly)
c.1124A>G (p.Asp375Gly)
c.1091A>G (p.Asp364Gly)
n.2125A>G
c.1304A>G (p.Asp435Gly)
n.2119A>G
Xg.53250774T>GCA413163565IQSEC2c.1961A>C (p.Asp654Ala)
c.1802A>C (p.Asp601Ala)
c.1772A>C (p.Asp591Ala)
c.1187A>C (p.Asp396Ala)
c.1898A>C (p.Asp633Ala)
c.1124A>C (p.Asp375Ala)
c.1091A>C (p.Asp364Ala)
n.2125A>C
c.1304A>C (p.Asp435Ala)
n.2119A>C
Xg.53250775C>ACA413163571IQSEC2c.1960G>T (p.Asp654Tyr)
c.1801G>T (p.Asp601Tyr)
c.1771G>T (p.Asp591Tyr)
c.1186G>T (p.Asp396Tyr)
c.1897G>T (p.Asp633Tyr)
c.1123G>T (p.Asp375Tyr)
c.1090G>T (p.Asp364Tyr)
n.2124G>T
c.1303G>T (p.Asp435Tyr)
n.2118G>T
Xg.53250775C>GCA413163578IQSEC2c.1960G>C (p.Asp654His)
c.1801G>C (p.Asp601His)
c.1771G>C (p.Asp591His)
c.1186G>C (p.Asp396His)
c.1897G>C (p.Asp633His)
c.1123G>C (p.Asp375His)
c.1090G>C (p.Asp364His)
n.2124G>C
c.1303G>C (p.Asp435His)
n.2118G>C
Xg.53250775C>TCA413163580IQSEC2c.1960G>A (p.Asp654Asn)
c.1801G>A (p.Asp601Asn)
c.1771G>A (p.Asp591Asn)
c.1186G>A (p.Asp396Asn)
c.1897G>A (p.Asp633Asn)
c.1123G>A (p.Asp375Asn)
c.1090G>A (p.Asp364Asn)
n.2124G>A
c.1303G>A (p.Asp435Asn)
n.2118G>A
Xg.53250776A>CCA413163593IQSEC2c.1959T>G (p.Ser653Arg)
c.1800T>G (p.Ser600Arg)
c.1770T>G (p.Ser590Arg)
c.1185T>G (p.Ser395Arg)
c.1896T>G (p.Ser632Arg)
c.1122T>G (p.Ser374Arg)
c.1089T>G (p.Ser363Arg)
n.2123T>G
c.1302T>G (p.Ser434Arg)
n.2117T>G
Xg.53250776A>GCA516673907IQSEC2c.1959T>C (p.Ser653=)
c.1800T>C (p.Ser600=)
c.1770T>C (p.Ser590=)
c.1185T>C (p.Ser395=)
c.1896T>C (p.Ser632=)
c.1122T>C (p.Ser374=)
c.1089T>C (p.Ser363=)
n.2123T>C
c.1302T>C (p.Ser434=)
n.2117T>C
Xg.53250776A>TCA413163591IQSEC2c.1959T>A (p.Ser653Arg)
c.1800T>A (p.Ser600Arg)
c.1770T>A (p.Ser590Arg)
c.1185T>A (p.Ser395Arg)
c.1896T>A (p.Ser632Arg)
c.1122T>A (p.Ser374Arg)
c.1089T>A (p.Ser363Arg)
n.2123T>A
c.1302T>A (p.Ser434Arg)
n.2117T>A
Xg.53250777C>ACA413163600IQSEC2c.1958G>T (p.Ser653Ile)
c.1799G>T (p.Ser600Ile)
c.1769G>T (p.Ser590Ile)
c.1184G>T (p.Ser395Ile)
c.1895G>T (p.Ser632Ile)
c.1121G>T (p.Ser374Ile)
c.1088G>T (p.Ser363Ile)
n.2122G>T
c.1301G>T (p.Ser434Ile)
n.2116G>T
Xg.53250777C>GCA413163604IQSEC2c.1958G>C (p.Ser653Thr)
c.1799G>C (p.Ser600Thr)
c.1769G>C (p.Ser590Thr)
c.1184G>C (p.Ser395Thr)
c.1895G>C (p.Ser632Thr)
c.1121G>C (p.Ser374Thr)
c.1088G>C (p.Ser363Thr)
n.2122G>C
c.1301G>C (p.Ser434Thr)
n.2116G>C
Xg.53250777C>TCA413163606IQSEC2c.1958G>A (p.Ser653Asn)
c.1799G>A (p.Ser600Asn)
c.1769G>A (p.Ser590Asn)
c.1184G>A (p.Ser395Asn)
c.1895G>A (p.Ser632Asn)
c.1121G>A (p.Ser374Asn)
c.1088G>A (p.Ser363Asn)
n.2122G>A
c.1301G>A (p.Ser434Asn)
n.2116G>A
Xg.53250778T>ACA413163609IQSEC2c.1957A>T (p.Ser653Cys)
c.1798A>T (p.Ser600Cys)
c.1768A>T (p.Ser590Cys)
c.1183A>T (p.Ser395Cys)
c.1894A>T (p.Ser632Cys)
c.1120A>T (p.Ser374Cys)
c.1087A>T (p.Ser363Cys)
n.2121A>T
c.1300A>T (p.Ser434Cys)
n.2115A>T
Xg.53250778T>CCA413163610IQSEC2c.1957A>G (p.Ser653Gly)
c.1798A>G (p.Ser600Gly)
c.1768A>G (p.Ser590Gly)
c.1183A>G (p.Ser395Gly)
c.1894A>G (p.Ser632Gly)
c.1120A>G (p.Ser374Gly)
c.1087A>G (p.Ser363Gly)
n.2121A>G
c.1300A>G (p.Ser434Gly)
n.2115A>G
Xg.53250778T>GCA413163611IQSEC2c.1957A>C (p.Ser653Arg)
c.1798A>C (p.Ser600Arg)
c.1768A>C (p.Ser590Arg)
c.1183A>C (p.Ser395Arg)
c.1894A>C (p.Ser632Arg)
c.1120A>C (p.Ser374Arg)
c.1087A>C (p.Ser363Arg)
n.2121A>C
c.1300A>C (p.Ser434Arg)
n.2115A>C
Xg.53250779A>CCA516673912IQSEC2c.1956T>G (p.Pro652=)
c.1797T>G (p.Pro599=)
c.1767T>G (p.Pro589=)
c.1182T>G (p.Pro394=)
c.1893T>G (p.Pro631=)
c.1119T>G (p.Pro373=)
c.1086T>G (p.Pro362=)
n.2120T>G
c.1299T>G (p.Pro433=)
n.2114T>G
Xg.53250779A>GCA516673915IQSEC2c.1956T>C (p.Pro652=)
c.1797T>C (p.Pro599=)
c.1767T>C (p.Pro589=)
c.1182T>C (p.Pro394=)
c.1893T>C (p.Pro631=)
c.1119T>C (p.Pro373=)
c.1086T>C (p.Pro362=)
n.2120T>C
c.1299T>C (p.Pro433=)
n.2114T>C
Xg.53250779A>TCA516673914IQSEC2c.1956T>A (p.Pro652=)
c.1797T>A (p.Pro599=)
c.1767T>A (p.Pro589=)
c.1182T>A (p.Pro394=)
c.1893T>A (p.Pro631=)
c.1119T>A (p.Pro373=)
c.1086T>A (p.Pro362=)
n.2120T>A
c.1299T>A (p.Pro433=)
n.2114T>A
Xg.53250780G>ACA413163616IQSEC2c.1955C>T (p.Pro652Leu)
c.1796C>T (p.Pro599Leu)
c.1766C>T (p.Pro589Leu)
c.1181C>T (p.Pro394Leu)
c.1892C>T (p.Pro631Leu)
c.1118C>T (p.Pro373Leu)
c.1085C>T (p.Pro362Leu)
n.2119C>T
c.1298C>T (p.Pro433Leu)
n.2113C>T
Xg.53250780G>CCA413163625IQSEC2c.1955C>G (p.Pro652Arg)
c.1796C>G (p.Pro599Arg)
c.1766C>G (p.Pro589Arg)
c.1181C>G (p.Pro394Arg)
c.1892C>G (p.Pro631Arg)
c.1118C>G (p.Pro373Arg)
c.1085C>G (p.Pro362Arg)
n.2119C>G
c.1298C>G (p.Pro433Arg)
n.2113C>G
Xg.53250780G>TCA413163622IQSEC2c.1955C>A (p.Pro652His)
c.1796C>A (p.Pro599His)
c.1766C>A (p.Pro589His)
c.1181C>A (p.Pro394His)
c.1892C>A (p.Pro631His)
c.1118C>A (p.Pro373His)
c.1085C>A (p.Pro362His)
n.2119C>A
c.1298C>A (p.Pro433His)
n.2113C>A
Xg.53250781G>ACA413163630IQSEC2c.1954C>T (p.Pro652Ser)
c.1795C>T (p.Pro599Ser)
c.1765C>T (p.Pro589Ser)
c.1180C>T (p.Pro394Ser)
c.1891C>T (p.Pro631Ser)
c.1117C>T (p.Pro373Ser)
c.1084C>T (p.Pro362Ser)
n.2118C>T
c.1297C>T (p.Pro433Ser)
n.2112C>T
 gnomAD v4
Xg.53250781G>CCA413163633IQSEC2c.1954C>G (p.Pro652Ala)
c.1795C>G (p.Pro599Ala)
c.1765C>G (p.Pro589Ala)
c.1180C>G (p.Pro394Ala)
c.1891C>G (p.Pro631Ala)
c.1117C>G (p.Pro373Ala)
c.1084C>G (p.Pro362Ala)
n.2118C>G
c.1297C>G (p.Pro433Ala)
n.2112C>G
Xg.53250781G>TCA413163635IQSEC2c.1954C>A (p.Pro652Thr)
c.1795C>A (p.Pro599Thr)
c.1765C>A (p.Pro589Thr)
c.1180C>A (p.Pro394Thr)
c.1891C>A (p.Pro631Thr)
c.1117C>A (p.Pro373Thr)
c.1084C>A (p.Pro362Thr)
n.2118C>A
c.1297C>A (p.Pro433Thr)
n.2112C>A
Xg.53250782A>CCA516673920IQSEC2c.1953T>G (p.Pro651=)
c.1794T>G (p.Pro598=)
c.1764T>G (p.Pro588=)
c.1179T>G (p.Pro393=)
c.1890T>G (p.Pro630=)
c.1116T>G (p.Pro372=)
c.1083T>G (p.Pro361=)
n.2117T>G
c.1296T>G (p.Pro432=)
n.2111T>G
Xg.53250782A>GCA516673921IQSEC2c.1953T>C (p.Pro651=)
c.1794T>C (p.Pro598=)
c.1764T>C (p.Pro588=)
c.1179T>C (p.Pro393=)
c.1890T>C (p.Pro630=)
c.1116T>C (p.Pro372=)
c.1083T>C (p.Pro361=)
n.2117T>C
c.1296T>C (p.Pro432=)
n.2111T>C
Xg.53250782A>TCA516673922IQSEC2c.1953T>A (p.Pro651=)
c.1794T>A (p.Pro598=)
c.1764T>A (p.Pro588=)
c.1179T>A (p.Pro393=)
c.1890T>A (p.Pro630=)
c.1116T>A (p.Pro372=)
c.1083T>A (p.Pro361=)
n.2117T>A
c.1296T>A (p.Pro432=)
n.2111T>A
Xg.53250783G>ACA413163640IQSEC2c.1952C>T (p.Pro651Leu)
c.1793C>T (p.Pro598Leu)
c.1763C>T (p.Pro588Leu)
c.1178C>T (p.Pro393Leu)
c.1889C>T (p.Pro630Leu)
c.1115C>T (p.Pro372Leu)
c.1082C>T (p.Pro361Leu)
n.2116C>T
c.1295C>T (p.Pro432Leu)
n.2110C>T
Xg.53250783G>CCA413163646IQSEC2c.1952C>G (p.Pro651Arg)
c.1793C>G (p.Pro598Arg)
c.1763C>G (p.Pro588Arg)
c.1178C>G (p.Pro393Arg)
c.1889C>G (p.Pro630Arg)
c.1115C>G (p.Pro372Arg)
c.1082C>G (p.Pro361Arg)
n.2116C>G
c.1295C>G (p.Pro432Arg)
n.2110C>G
Xg.53250783G>TCA413163649IQSEC2c.1952C>A (p.Pro651His)
c.1793C>A (p.Pro598His)
c.1763C>A (p.Pro588His)
c.1178C>A (p.Pro393His)
c.1889C>A (p.Pro630His)
c.1115C>A (p.Pro372His)
c.1082C>A (p.Pro361His)
n.2116C>A
c.1295C>A (p.Pro432His)
n.2110C>A
Xg.53250784G>ACA413163650IQSEC2c.1951C>T (p.Pro651Ser)
c.1792C>T (p.Pro598Ser)
c.1762C>T (p.Pro588Ser)
c.1177C>T (p.Pro393Ser)
c.1888C>T (p.Pro630Ser)
c.1114C>T (p.Pro372Ser)
c.1081C>T (p.Pro361Ser)
n.2115C>T
c.1294C>T (p.Pro432Ser)
n.2109C>T
Xg.53250784G>CCA413163652IQSEC2c.1951C>G (p.Pro651Ala)
c.1792C>G (p.Pro598Ala)
c.1762C>G (p.Pro588Ala)
c.1177C>G (p.Pro393Ala)
c.1888C>G (p.Pro630Ala)
c.1114C>G (p.Pro372Ala)
c.1081C>G (p.Pro361Ala)
n.2115C>G
c.1294C>G (p.Pro432Ala)
n.2109C>G
Xg.53250784G>TCA413163654IQSEC2c.1951C>A (p.Pro651Thr)
c.1792C>A (p.Pro598Thr)
c.1762C>A (p.Pro588Thr)
c.1177C>A (p.Pro393Thr)
c.1888C>A (p.Pro630Thr)
c.1114C>A (p.Pro372Thr)
c.1081C>A (p.Pro361Thr)
n.2115C>A
c.1294C>A (p.Pro432Thr)
n.2109C>A
 gnomAD v4
Xg.53250785C>ACA413163657IQSEC2c.1950G>T (p.Glu650Asp)
c.1791G>T (p.Glu597Asp)
c.1761G>T (p.Glu587Asp)
c.1176G>T (p.Glu392Asp)
c.1887G>T (p.Glu629Asp)
c.1113G>T (p.Glu371Asp)
c.1080G>T (p.Glu360Asp)
n.2114G>T
c.1293G>T (p.Glu431Asp)
n.2108G>T
Xg.53250785C=CA2429775640IQSEC2c.1950G= (p.Glu650=)
c.1791G= (p.Glu597=)
c.1761G= (p.Glu587=)
c.1176G= (p.Glu392=)
c.1887G= (p.Glu629=)
c.1113G= (p.Glu371=)
c.1080G= (p.Glu360=)
n.2114G=
c.1293G= (p.Glu431=)
n.2108G=
Xg.53250785C>GCA413163660IQSEC2c.1950G>C (p.Glu650Asp)
c.1791G>C (p.Glu597Asp)
c.1761G>C (p.Glu587Asp)
c.1176G>C (p.Glu392Asp)
c.1887G>C (p.Glu629Asp)
c.1113G>C (p.Glu371Asp)
c.1080G>C (p.Glu360Asp)
n.2114G>C
c.1293G>C (p.Glu431Asp)
n.2108G>C
Xg.53250785C>TCA516673927IQSEC2c.1950G>A (p.Glu650=)
c.1791G>A (p.Glu597=)
c.1761G>A (p.Glu587=)
c.1176G>A (p.Glu392=)
c.1887G>A (p.Glu629=)
c.1113G>A (p.Glu371=)
c.1080G>A (p.Glu360=)
n.2114G>A
c.1293G>A (p.Glu431=)
n.2108G>A
 ClinVar dbSNP
Xg.53250786T>ACA413163666IQSEC2c.1949A>T (p.Glu650Val)
c.1790A>T (p.Glu597Val)
c.1760A>T (p.Glu587Val)
c.1175A>T (p.Glu392Val)
c.1886A>T (p.Glu629Val)
c.1112A>T (p.Glu371Val)
c.1079A>T (p.Glu360Val)
n.2113A>T
c.1292A>T (p.Glu431Val)
n.2107A>T
Xg.53250786T>CCA413163670IQSEC2c.1949A>G (p.Glu650Gly)
c.1790A>G (p.Glu597Gly)
c.1760A>G (p.Glu587Gly)
c.1175A>G (p.Glu392Gly)
c.1886A>G (p.Glu629Gly)
c.1112A>G (p.Glu371Gly)
c.1079A>G (p.Glu360Gly)
n.2113A>G
c.1292A>G (p.Glu431Gly)
n.2107A>G
Xg.53250786T>GCA413163663IQSEC2c.1949A>C (p.Glu650Ala)
c.1790A>C (p.Glu597Ala)
c.1760A>C (p.Glu587Ala)
c.1175A>C (p.Glu392Ala)
c.1886A>C (p.Glu629Ala)
c.1112A>C (p.Glu371Ala)
c.1079A>C (p.Glu360Ala)
n.2113A>C
c.1292A>C (p.Glu431Ala)
n.2107A>C
Xg.53250787C>ACA413163679IQSEC2c.1948G>T (p.Glu650Ter)
c.1789G>T (p.Glu597Ter)
c.1759G>T (p.Glu587Ter)
c.1174G>T (p.Glu392Ter)
c.1885G>T (p.Glu629Ter)
c.1111G>T (p.Glu371Ter)
c.1078G>T (p.Glu360Ter)
n.2112G>T
c.1291G>T (p.Glu431Ter)
n.2106G>T
Xg.53250787C>GCA413163674IQSEC2c.1948G>C (p.Glu650Gln)
c.1789G>C (p.Glu597Gln)
c.1759G>C (p.Glu587Gln)
c.1174G>C (p.Glu392Gln)
c.1885G>C (p.Glu629Gln)
c.1111G>C (p.Glu371Gln)
c.1078G>C (p.Glu360Gln)
n.2112G>C
c.1291G>C (p.Glu431Gln)
n.2106G>C
 gnomAD v4
Xg.53250787C>TCA413163676IQSEC2c.1948G>A (p.Glu650Lys)
c.1789G>A (p.Glu597Lys)
c.1759G>A (p.Glu587Lys)
c.1174G>A (p.Glu392Lys)
c.1885G>A (p.Glu629Lys)
c.1111G>A (p.Glu371Lys)
c.1078G>A (p.Glu360Lys)
n.2112G>A
c.1291G>A (p.Glu431Lys)
n.2106G>A
Xg.53250788A>CCA413163683IQSEC2c.1947T>G (p.Ile649Met)
c.1788T>G (p.Ile596Met)
c.1758T>G (p.Ile586Met)
c.1173T>G (p.Ile391Met)
c.1884T>G (p.Ile628Met)
c.1110T>G (p.Ile370Met)
c.1077T>G (p.Ile359Met)
n.2111T>G
c.1290T>G (p.Ile430Met)
n.2105T>G
Xg.53250788A>GCA516673934IQSEC2c.1947T>C (p.Ile649=)
c.1788T>C (p.Ile596=)
c.1758T>C (p.Ile586=)
c.1173T>C (p.Ile391=)
c.1884T>C (p.Ile628=)
c.1110T>C (p.Ile370=)
c.1077T>C (p.Ile359=)
n.2111T>C
c.1290T>C (p.Ile430=)
n.2105T>C
 ClinVar dbSNP gnomAD v4
Xg.53250788A>TCA516673935IQSEC2c.1947T>A (p.Ile649=)
c.1788T>A (p.Ile596=)
c.1758T>A (p.Ile586=)
c.1173T>A (p.Ile391=)
c.1884T>A (p.Ile628=)
c.1110T>A (p.Ile370=)
c.1077T>A (p.Ile359=)
n.2111T>A
c.1290T>A (p.Ile430=)
n.2105T>A
Xg.53250789A=CA2429775641IQSEC2c.1946T= (p.Ile649=)
c.1787T= (p.Ile596=)
c.1757T= (p.Ile586=)
c.1172T= (p.Ile391=)
c.1883T= (p.Ile628=)
c.1109T= (p.Ile370=)
c.1076T= (p.Ile359=)
n.2110T=
c.1289T= (p.Ile430=)
n.2104T=
Xg.53250789A>CCA413163689IQSEC2c.1946T>G (p.Ile649Ser)
c.1787T>G (p.Ile596Ser)
c.1757T>G (p.Ile586Ser)
c.1172T>G (p.Ile391Ser)
c.1883T>G (p.Ile628Ser)
c.1109T>G (p.Ile370Ser)
c.1076T>G (p.Ile359Ser)
n.2110T>G
c.1289T>G (p.Ile430Ser)
n.2104T>G
Xg.53250789A>GCA10420001IQSEC2c.1946T>C (p.Ile649Thr)
c.1787T>C (p.Ile596Thr)
c.1757T>C (p.Ile586Thr)
c.1172T>C (p.Ile391Thr)
c.1883T>C (p.Ile628Thr)
c.1109T>C (p.Ile370Thr)
c.1076T>C (p.Ile359Thr)
n.2110T>C
c.1289T>C (p.Ile430Thr)
n.2104T>C
 dbSNP ExAC gnomAD v2
Xg.53250789A>TCA413163695IQSEC2c.1946T>A (p.Ile649Asn)
c.1787T>A (p.Ile596Asn)
c.1757T>A (p.Ile586Asn)
c.1172T>A (p.Ile391Asn)
c.1883T>A (p.Ile628Asn)
c.1109T>A (p.Ile370Asn)
c.1076T>A (p.Ile359Asn)
n.2110T>A
c.1289T>A (p.Ile430Asn)
n.2104T>A
Xg.53250790T>ACA413163697IQSEC2c.1945A>T (p.Ile649Phe)
c.1786A>T (p.Ile596Phe)
c.1756A>T (p.Ile586Phe)
c.1171A>T (p.Ile391Phe)
c.1882A>T (p.Ile628Phe)
c.1108A>T (p.Ile370Phe)
c.1075A>T (p.Ile359Phe)
n.2109A>T
c.1288A>T (p.Ile430Phe)
n.2103A>T
Xg.53250790T>CCA413163698IQSEC2c.1945A>G (p.Ile649Val)
c.1786A>G (p.Ile596Val)
c.1756A>G (p.Ile586Val)
c.1171A>G (p.Ile391Val)
c.1882A>G (p.Ile628Val)
c.1108A>G (p.Ile370Val)
c.1075A>G (p.Ile359Val)
n.2109A>G
c.1288A>G (p.Ile430Val)
n.2103A>G
Xg.53250790T>GCA413163699IQSEC2c.1945A>C (p.Ile649Leu)
c.1786A>C (p.Ile596Leu)
c.1756A>C (p.Ile586Leu)
c.1171A>C (p.Ile391Leu)
c.1882A>C (p.Ile628Leu)
c.1108A>C (p.Ile370Leu)
c.1075A>C (p.Ile359Leu)
n.2109A>C
c.1288A>C (p.Ile430Leu)
n.2103A>C
Xg.53250791G>ACA516673941IQSEC2c.1944C>T (p.Thr648=)
c.1785C>T (p.Thr595=)
c.1755C>T (p.Thr585=)
c.1170C>T (p.Thr390=)
c.1881C>T (p.Thr627=)
c.1107C>T (p.Thr369=)
c.1074C>T (p.Thr358=)
n.2108C>T
c.1287C>T (p.Thr429=)
n.2102C>T
Xg.53250791G>CCA516673942IQSEC2c.1944C>G (p.Thr648=)
c.1785C>G (p.Thr595=)
c.1755C>G (p.Thr585=)
c.1170C>G (p.Thr390=)
c.1881C>G (p.Thr627=)
c.1107C>G (p.Thr369=)
c.1074C>G (p.Thr358=)
n.2108C>G
c.1287C>G (p.Thr429=)
n.2102C>G
Xg.53250791G>TCA516673943IQSEC2c.1944C>A (p.Thr648=)
c.1785C>A (p.Thr595=)
c.1755C>A (p.Thr585=)
c.1170C>A (p.Thr390=)
c.1881C>A (p.Thr627=)
c.1107C>A (p.Thr369=)
c.1074C>A (p.Thr358=)
n.2108C>A
c.1287C>A (p.Thr429=)
n.2102C>A
Xg.53250792G>ACA413163702IQSEC2c.1943C>T (p.Thr648Ile)
c.1784C>T (p.Thr595Ile)
c.1754C>T (p.Thr585Ile)
c.1169C>T (p.Thr390Ile)
c.1880C>T (p.Thr627Ile)
c.1106C>T (p.Thr369Ile)
c.1073C>T (p.Thr358Ile)
n.2107C>T
c.1286C>T (p.Thr429Ile)
n.2101C>T
Xg.53250792G>CCA413163704IQSEC2c.1943C>G (p.Thr648Ser)
c.1784C>G (p.Thr595Ser)
c.1754C>G (p.Thr585Ser)
c.1169C>G (p.Thr390Ser)
c.1880C>G (p.Thr627Ser)
c.1106C>G (p.Thr369Ser)
c.1073C>G (p.Thr358Ser)
n.2107C>G
c.1286C>G (p.Thr429Ser)
n.2101C>G
Xg.53250792G>TCA413163708IQSEC2c.1943C>A (p.Thr648Asn)
c.1784C>A (p.Thr595Asn)
c.1754C>A (p.Thr585Asn)
c.1169C>A (p.Thr390Asn)
c.1880C>A (p.Thr627Asn)
c.1106C>A (p.Thr369Asn)
c.1073C>A (p.Thr358Asn)
n.2107C>A
c.1286C>A (p.Thr429Asn)
n.2101C>A
Xg.53250793T>ACA413163713IQSEC2c.1942A>T (p.Thr648Ser)
c.1783A>T (p.Thr595Ser)
c.1753A>T (p.Thr585Ser)
c.1168A>T (p.Thr390Ser)
c.1879A>T (p.Thr627Ser)
c.1105A>T (p.Thr369Ser)
c.1072A>T (p.Thr358Ser)
n.2106A>T
c.1285A>T (p.Thr429Ser)
n.2100A>T
Xg.53250793T>CCA413163711IQSEC2c.1942A>G (p.Thr648Ala)
c.1783A>G (p.Thr595Ala)
c.1753A>G (p.Thr585Ala)
c.1168A>G (p.Thr390Ala)
c.1879A>G (p.Thr627Ala)
c.1105A>G (p.Thr369Ala)
c.1072A>G (p.Thr358Ala)
n.2106A>G
c.1285A>G (p.Thr429Ala)
n.2100A>G
Xg.53250793T>GCA413163712IQSEC2c.1942A>C (p.Thr648Pro)
c.1783A>C (p.Thr595Pro)
c.1753A>C (p.Thr585Pro)
c.1168A>C (p.Thr390Pro)
c.1879A>C (p.Thr627Pro)
c.1105A>C (p.Thr369Pro)
c.1072A>C (p.Thr358Pro)
n.2106A>C
c.1285A>C (p.Thr429Pro)
n.2100A>C
Xg.53250794A>CCA516673946IQSEC2c.1941T>G (p.Leu647=)
c.1782T>G (p.Leu594=)
c.1752T>G (p.Leu584=)
c.1167T>G (p.Leu389=)
c.1878T>G (p.Leu626=)
c.1104T>G (p.Leu368=)
c.1071T>G (p.Leu357=)
n.2105T>G
c.1284T>G (p.Leu428=)
n.2099T>G
Xg.53250794A>GCA516673947IQSEC2c.1941T>C (p.Leu647=)
c.1782T>C (p.Leu594=)
c.1752T>C (p.Leu584=)
c.1167T>C (p.Leu389=)
c.1878T>C (p.Leu626=)
c.1104T>C (p.Leu368=)
c.1071T>C (p.Leu357=)
n.2105T>C
c.1284T>C (p.Leu428=)
n.2099T>C
Xg.53250794A>TCA516673949IQSEC2c.1941T>A (p.Leu647=)
c.1782T>A (p.Leu594=)
c.1752T>A (p.Leu584=)
c.1167T>A (p.Leu389=)
c.1878T>A (p.Leu626=)
c.1104T>A (p.Leu368=)
c.1071T>A (p.Leu357=)
n.2105T>A
c.1284T>A (p.Leu428=)
n.2099T>A
Xg.53250795A>CCA413163717IQSEC2c.1940T>G (p.Leu647Arg)
c.1781T>G (p.Leu594Arg)
c.1751T>G (p.Leu584Arg)
c.1166T>G (p.Leu389Arg)
c.1877T>G (p.Leu626Arg)
c.1103T>G (p.Leu368Arg)
c.1070T>G (p.Leu357Arg)
n.2104T>G
c.1283T>G (p.Leu428Arg)
n.2098T>G
Xg.53250795A>GCA413163720IQSEC2c.1940T>C (p.Leu647Pro)
c.1781T>C (p.Leu594Pro)
c.1751T>C (p.Leu584Pro)
c.1166T>C (p.Leu389Pro)
c.1877T>C (p.Leu626Pro)
c.1103T>C (p.Leu368Pro)
c.1070T>C (p.Leu357Pro)
n.2104T>C
c.1283T>C (p.Leu428Pro)
n.2098T>C
Xg.53250795A>TCA413163723IQSEC2c.1940T>A (p.Leu647His)
c.1781T>A (p.Leu594His)
c.1751T>A (p.Leu584His)
c.1166T>A (p.Leu389His)
c.1877T>A (p.Leu626His)
c.1103T>A (p.Leu368His)
c.1070T>A (p.Leu357His)
n.2104T>A
c.1283T>A (p.Leu428His)
n.2098T>A
Xg.53250796G>ACA413163728IQSEC2c.1939C>T (p.Leu647Phe)
c.1780C>T (p.Leu594Phe)
c.1750C>T (p.Leu584Phe)
c.1165C>T (p.Leu389Phe)
c.1876C>T (p.Leu626Phe)
c.1102C>T (p.Leu368Phe)
c.1069C>T (p.Leu357Phe)
n.2103C>T
c.1282C>T (p.Leu428Phe)
n.2097C>T
Xg.53250796G>CCA413163732IQSEC2c.1939C>G (p.Leu647Val)
c.1780C>G (p.Leu594Val)
c.1750C>G (p.Leu584Val)
c.1165C>G (p.Leu389Val)
c.1876C>G (p.Leu626Val)
c.1102C>G (p.Leu368Val)
c.1069C>G (p.Leu357Val)
n.2103C>G
c.1282C>G (p.Leu428Val)
n.2097C>G
Xg.53250796G>TCA413163734IQSEC2c.1939C>A (p.Leu647Ile)
c.1780C>A (p.Leu594Ile)
c.1750C>A (p.Leu584Ile)
c.1165C>A (p.Leu389Ile)
c.1876C>A (p.Leu626Ile)
c.1102C>A (p.Leu368Ile)
c.1069C>A (p.Leu357Ile)
n.2103C>A
c.1282C>A (p.Leu428Ile)
n.2097C>A
Xg.53250797C>ACA516673953IQSEC2c.1938G>T (p.Leu646=)
c.1779G>T (p.Leu593=)
c.1749G>T (p.Leu583=)
c.1164G>T (p.Leu388=)
c.1875G>T (p.Leu625=)
c.1101G>T (p.Leu367=)
c.1068G>T (p.Leu356=)
n.2102G>T
c.1281G>T (p.Leu427=)
n.2096G>T
 gnomAD v4
Xg.53250797C>GCA516673955IQSEC2c.1938G>C (p.Leu646=)
c.1779G>C (p.Leu593=)
c.1749G>C (p.Leu583=)
c.1164G>C (p.Leu388=)
c.1875G>C (p.Leu625=)
c.1101G>C (p.Leu367=)
c.1068G>C (p.Leu356=)
n.2102G>C
c.1281G>C (p.Leu427=)
n.2096G>C
Xg.53250797C>TCA516673956IQSEC2c.1938G>A (p.Leu646=)
c.1779G>A (p.Leu593=)
c.1749G>A (p.Leu583=)
c.1164G>A (p.Leu388=)
c.1875G>A (p.Leu625=)
c.1101G>A (p.Leu367=)
c.1068G>A (p.Leu356=)
n.2102G>A
c.1281G>A (p.Leu427=)
n.2096G>A
Xg.53250798A>CCA413163738IQSEC2c.1937T>G (p.Leu646Arg)
c.1778T>G (p.Leu593Arg)
c.1748T>G (p.Leu583Arg)
c.1163T>G (p.Leu388Arg)
c.1874T>G (p.Leu625Arg)
c.1100T>G (p.Leu367Arg)
c.1067T>G (p.Leu356Arg)
n.2101T>G
c.1280T>G (p.Leu427Arg)
n.2095T>G
Xg.53250798A>GCA413163741IQSEC2c.1937T>C (p.Leu646Pro)
c.1778T>C (p.Leu593Pro)
c.1748T>C (p.Leu583Pro)
c.1163T>C (p.Leu388Pro)
c.1874T>C (p.Leu625Pro)
c.1100T>C (p.Leu367Pro)
c.1067T>C (p.Leu356Pro)
n.2101T>C
c.1280T>C (p.Leu427Pro)
n.2095T>C
Xg.53250798A>TCA413163745IQSEC2c.1937T>A (p.Leu646Gln)
c.1778T>A (p.Leu593Gln)
c.1748T>A (p.Leu583Gln)
c.1163T>A (p.Leu388Gln)
c.1874T>A (p.Leu625Gln)
c.1100T>A (p.Leu367Gln)
c.1067T>A (p.Leu356Gln)
n.2101T>A
c.1280T>A (p.Leu427Gln)
n.2095T>A
Xg.53250799G>ACA10420002IQSEC2c.1936C>T (p.Leu646=)
c.1777C>T (p.Leu593=)
c.1747C>T (p.Leu583=)
c.1162C>T (p.Leu388=)
c.1873C>T (p.Leu625=)
c.1099C>T (p.Leu367=)
c.1066C>T (p.Leu356=)
n.2100C>T
c.1279C>T (p.Leu427=)
n.2094C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250799G>CCA413163753IQSEC2c.1936C>G (p.Leu646Val)
c.1777C>G (p.Leu593Val)
c.1747C>G (p.Leu583Val)
c.1162C>G (p.Leu388Val)
c.1873C>G (p.Leu625Val)
c.1099C>G (p.Leu367Val)
c.1066C>G (p.Leu356Val)
n.2100C>G
c.1279C>G (p.Leu427Val)
n.2094C>G
Xg.53250799G=CA2429775642IQSEC2c.1936C= (p.Leu646=)
c.1777C= (p.Leu593=)
c.1747C= (p.Leu583=)
c.1162C= (p.Leu388=)
c.1873C= (p.Leu625=)
c.1099C= (p.Leu367=)
c.1066C= (p.Leu356=)
n.2100C=
c.1279C= (p.Leu427=)
n.2094C=
Xg.53250799G>TCA413163754IQSEC2c.1936C>A (p.Leu646Met)
c.1777C>A (p.Leu593Met)
c.1747C>A (p.Leu583Met)
c.1162C>A (p.Leu388Met)
c.1873C>A (p.Leu625Met)
c.1099C>A (p.Leu367Met)
c.1066C>A (p.Leu356Met)
n.2100C>A
c.1279C>A (p.Leu427Met)
n.2094C>A
Xg.53250800G>ACA516673965IQSEC2c.1935C>T (p.Pro645=)
c.1776C>T (p.Pro592=)
c.1746C>T (p.Pro582=)
c.1161C>T (p.Pro387=)
c.1872C>T (p.Pro624=)
c.1098C>T (p.Pro366=)
c.1065C>T (p.Pro355=)
n.2099C>T
c.1278C>T (p.Pro426=)
n.2093C>T
Xg.53250800G>CCA516673964IQSEC2c.1935C>G (p.Pro645=)
c.1776C>G (p.Pro592=)
c.1746C>G (p.Pro582=)
c.1161C>G (p.Pro387=)
c.1872C>G (p.Pro624=)
c.1098C>G (p.Pro366=)
c.1065C>G (p.Pro355=)
n.2099C>G
c.1278C>G (p.Pro426=)
n.2093C>G
Xg.53250800G>TCA516673962IQSEC2c.1935C>A (p.Pro645=)
c.1776C>A (p.Pro592=)
c.1746C>A (p.Pro582=)
c.1161C>A (p.Pro387=)
c.1872C>A (p.Pro624=)
c.1098C>A (p.Pro366=)
c.1065C>A (p.Pro355=)
n.2099C>A
c.1278C>A (p.Pro426=)
n.2093C>A
Xg.53250801G>ACA413163760IQSEC2c.1934C>T (p.Pro645Leu)
c.1775C>T (p.Pro592Leu)
c.1745C>T (p.Pro582Leu)
c.1160C>T (p.Pro387Leu)
c.1871C>T (p.Pro624Leu)
c.1097C>T (p.Pro366Leu)
c.1064C>T (p.Pro355Leu)
n.2098C>T
c.1277C>T (p.Pro426Leu)
n.2092C>T
 dbSNP gnomAD v2
Xg.53250801G>CCA413163762IQSEC2c.1934C>G (p.Pro645Arg)
c.1775C>G (p.Pro592Arg)
c.1745C>G (p.Pro582Arg)
c.1160C>G (p.Pro387Arg)
c.1871C>G (p.Pro624Arg)
c.1097C>G (p.Pro366Arg)
c.1064C>G (p.Pro355Arg)
n.2098C>G
c.1277C>G (p.Pro426Arg)
n.2092C>G
Xg.53250801G=CA2429775643IQSEC2c.1934C= (p.Pro645=)
c.1775C= (p.Pro592=)
c.1745C= (p.Pro582=)
c.1160C= (p.Pro387=)
c.1871C= (p.Pro624=)
c.1097C= (p.Pro366=)
c.1064C= (p.Pro355=)
n.2098C=
c.1277C= (p.Pro426=)
n.2092C=
Xg.53250801G>TCA413163757IQSEC2c.1934C>A (p.Pro645His)
c.1775C>A (p.Pro592His)
c.1745C>A (p.Pro582His)
c.1160C>A (p.Pro387His)
c.1871C>A (p.Pro624His)
c.1097C>A (p.Pro366His)
c.1064C>A (p.Pro355His)
n.2098C>A
c.1277C>A (p.Pro426His)
n.2092C>A
Xg.53250802G>ACA413163766IQSEC2c.1933C>T (p.Pro645Ser)
c.1774C>T (p.Pro592Ser)
c.1744C>T (p.Pro582Ser)
c.1159C>T (p.Pro387Ser)
c.1870C>T (p.Pro624Ser)
c.1096C>T (p.Pro366Ser)
c.1063C>T (p.Pro355Ser)
n.2097C>T
c.1276C>T (p.Pro426Ser)
n.2091C>T
Xg.53250802G>CCA413163768IQSEC2c.1933C>G (p.Pro645Ala)
c.1774C>G (p.Pro592Ala)
c.1744C>G (p.Pro582Ala)
c.1159C>G (p.Pro387Ala)
c.1870C>G (p.Pro624Ala)
c.1096C>G (p.Pro366Ala)
c.1063C>G (p.Pro355Ala)
n.2097C>G
c.1276C>G (p.Pro426Ala)
n.2091C>G
Xg.53250802G>TCA413163770IQSEC2c.1933C>A (p.Pro645Thr)
c.1774C>A (p.Pro592Thr)
c.1744C>A (p.Pro582Thr)
c.1159C>A (p.Pro387Thr)
c.1870C>A (p.Pro624Thr)
c.1096C>A (p.Pro366Thr)
c.1063C>A (p.Pro355Thr)
n.2097C>A
c.1276C>A (p.Pro426Thr)
n.2091C>A
Xg.53250803A=CA2429775644IQSEC2c.1932T= (p.Leu644=)
c.1773T= (p.Leu591=)
c.1743T= (p.Leu581=)
c.1158T= (p.Leu386=)
c.1869T= (p.Leu623=)
c.1095T= (p.Leu365=)
c.1062T= (p.Leu354=)
n.2096T=
c.1275T= (p.Leu425=)
n.2090T=
Xg.53250803A>CCA10420003IQSEC2c.1932T>G (p.Leu644=)
c.1773T>G (p.Leu591=)
c.1743T>G (p.Leu581=)
c.1158T>G (p.Leu386=)
c.1869T>G (p.Leu623=)
c.1095T>G (p.Leu365=)
c.1062T>G (p.Leu354=)
n.2096T>G
c.1275T>G (p.Leu425=)
n.2090T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250803A>GCA516673976IQSEC2c.1932T>C (p.Leu644=)
c.1773T>C (p.Leu591=)
c.1743T>C (p.Leu581=)
c.1158T>C (p.Leu386=)
c.1869T>C (p.Leu623=)
c.1095T>C (p.Leu365=)
c.1062T>C (p.Leu354=)
n.2096T>C
c.1275T>C (p.Leu425=)
n.2090T>C
Xg.53250803A>TCA516673977IQSEC2c.1932T>A (p.Leu644=)
c.1773T>A (p.Leu591=)
c.1743T>A (p.Leu581=)
c.1158T>A (p.Leu386=)
c.1869T>A (p.Leu623=)
c.1095T>A (p.Leu365=)
c.1062T>A (p.Leu354=)
n.2096T>A
c.1275T>A (p.Leu425=)
n.2090T>A
Xg.53250804A>CCA413163785IQSEC2c.1931T>G (p.Leu644Arg)
c.1772T>G (p.Leu591Arg)
c.1742T>G (p.Leu581Arg)
c.1157T>G (p.Leu386Arg)
c.1868T>G (p.Leu623Arg)
c.1094T>G (p.Leu365Arg)
c.1061T>G (p.Leu354Arg)
n.2095T>G
c.1274T>G (p.Leu425Arg)
n.2089T>G
Xg.53250804A>GCA413163786IQSEC2c.1931T>C (p.Leu644Pro)
c.1772T>C (p.Leu591Pro)
c.1742T>C (p.Leu581Pro)
c.1157T>C (p.Leu386Pro)
c.1868T>C (p.Leu623Pro)
c.1094T>C (p.Leu365Pro)
c.1061T>C (p.Leu354Pro)
n.2095T>C
c.1274T>C (p.Leu425Pro)
n.2089T>C
Xg.53250804A>TCA413163788IQSEC2c.1931T>A (p.Leu644His)
c.1772T>A (p.Leu591His)
c.1742T>A (p.Leu581His)
c.1157T>A (p.Leu386His)
c.1868T>A (p.Leu623His)
c.1094T>A (p.Leu365His)
c.1061T>A (p.Leu354His)
n.2095T>A
c.1274T>A (p.Leu425His)
n.2089T>A
Xg.53250805G>ACA413163795IQSEC2c.1930C>T (p.Leu644Phe)
c.1771C>T (p.Leu591Phe)
c.1741C>T (p.Leu581Phe)
c.1156C>T (p.Leu386Phe)
c.1867C>T (p.Leu623Phe)
c.1093C>T (p.Leu365Phe)
c.1060C>T (p.Leu354Phe)
n.2094C>T
c.1273C>T (p.Leu425Phe)
n.2088C>T
Xg.53250805G>CCA413163822IQSEC2c.1930C>G (p.Leu644Val)
c.1771C>G (p.Leu591Val)
c.1741C>G (p.Leu581Val)
c.1156C>G (p.Leu386Val)
c.1867C>G (p.Leu623Val)
c.1093C>G (p.Leu365Val)
c.1060C>G (p.Leu354Val)
n.2094C>G
c.1273C>G (p.Leu425Val)
n.2088C>G
Xg.53250805G>TCA413163816IQSEC2c.1930C>A (p.Leu644Ile)
c.1771C>A (p.Leu591Ile)
c.1741C>A (p.Leu581Ile)
c.1156C>A (p.Leu386Ile)
c.1867C>A (p.Leu623Ile)
c.1093C>A (p.Leu365Ile)
c.1060C>A (p.Leu354Ile)
n.2094C>A
c.1273C>A (p.Leu425Ile)
n.2088C>A
Xg.53250806G>ACA516673983IQSEC2c.1929C>T (p.His643=)
c.1770C>T (p.His590=)
c.1740C>T (p.His580=)
c.1155C>T (p.His385=)
c.1866C>T (p.His622=)
c.1092C>T (p.His364=)
c.1059C>T (p.His353=)
n.2093C>T
c.1272C>T (p.His424=)
n.2087C>T
Xg.53250806G>CCA413163823IQSEC2c.1929C>G (p.His643Gln)
c.1770C>G (p.His590Gln)
c.1740C>G (p.His580Gln)
c.1155C>G (p.His385Gln)
c.1866C>G (p.His622Gln)
c.1092C>G (p.His364Gln)
c.1059C>G (p.His353Gln)
n.2093C>G
c.1272C>G (p.His424Gln)
n.2087C>G
Xg.53250806G>TCA413163824IQSEC2c.1929C>A (p.His643Gln)
c.1770C>A (p.His590Gln)
c.1740C>A (p.His580Gln)
c.1155C>A (p.His385Gln)
c.1866C>A (p.His622Gln)
c.1092C>A (p.His364Gln)
c.1059C>A (p.His353Gln)
n.2093C>A
c.1272C>A (p.His424Gln)
n.2087C>A
Xg.53250807T>ACA413163827IQSEC2c.1928A>T (p.His643Leu)
c.1769A>T (p.His590Leu)
c.1739A>T (p.His580Leu)
c.1154A>T (p.His385Leu)
c.1865A>T (p.His622Leu)
c.1091A>T (p.His364Leu)
c.1058A>T (p.His353Leu)
n.2092A>T
c.1271A>T (p.His424Leu)
n.2086A>T
Xg.53250807T>CCA413163829IQSEC2c.1928A>G (p.His643Arg)
c.1769A>G (p.His590Arg)
c.1739A>G (p.His580Arg)
c.1154A>G (p.His385Arg)
c.1865A>G (p.His622Arg)
c.1091A>G (p.His364Arg)
c.1058A>G (p.His353Arg)
n.2092A>G
c.1271A>G (p.His424Arg)
n.2086A>G
Xg.53250807T>GCA413163830IQSEC2c.1928A>C (p.His643Pro)
c.1769A>C (p.His590Pro)
c.1739A>C (p.His580Pro)
c.1154A>C (p.His385Pro)
c.1865A>C (p.His622Pro)
c.1091A>C (p.His364Pro)
c.1058A>C (p.His353Pro)
n.2092A>C
c.1271A>C (p.His424Pro)
n.2086A>C
Xg.53250808G>ACA413163833IQSEC2c.1927C>T (p.His643Tyr)
c.1768C>T (p.His590Tyr)
c.1738C>T (p.His580Tyr)
c.1153C>T (p.His385Tyr)
c.1864C>T (p.His622Tyr)
c.1090C>T (p.His364Tyr)
c.1057C>T (p.His353Tyr)
n.2091C>T
c.1270C>T (p.His424Tyr)
n.2085C>T
Xg.53250808G>CCA413163838IQSEC2c.1927C>G (p.His643Asp)
c.1768C>G (p.His590Asp)
c.1738C>G (p.His580Asp)
c.1153C>G (p.His385Asp)
c.1864C>G (p.His622Asp)
c.1090C>G (p.His364Asp)
c.1057C>G (p.His353Asp)
n.2091C>G
c.1270C>G (p.His424Asp)
n.2085C>G
Xg.53250808G>TCA413163835IQSEC2c.1927C>A (p.His643Asn)
c.1768C>A (p.His590Asn)
c.1738C>A (p.His580Asn)
c.1153C>A (p.His385Asn)
c.1864C>A (p.His622Asn)
c.1090C>A (p.His364Asn)
c.1057C>A (p.His353Asn)
n.2091C>A
c.1270C>A (p.His424Asn)
n.2085C>A
Xg.53250809G>ACA516673988IQSEC2c.1926C>T (p.Ala642=)
c.1767C>T (p.Ala589=)
c.1737C>T (p.Ala579=)
c.1152C>T (p.Ala384=)
c.1863C>T (p.Ala621=)
c.1089C>T (p.Ala363=)
c.1056C>T (p.Ala352=)
n.2090C>T
c.1269C>T (p.Ala423=)
n.2084C>T
Xg.53250809G>CCA516673989IQSEC2c.1926C>G (p.Ala642=)
c.1767C>G (p.Ala589=)
c.1737C>G (p.Ala579=)
c.1152C>G (p.Ala384=)
c.1863C>G (p.Ala621=)
c.1089C>G (p.Ala363=)
c.1056C>G (p.Ala352=)
n.2090C>G
c.1269C>G (p.Ala423=)
n.2084C>G
Xg.53250809G>TCA516673990IQSEC2c.1926C>A (p.Ala642=)
c.1767C>A (p.Ala589=)
c.1737C>A (p.Ala579=)
c.1152C>A (p.Ala384=)
c.1863C>A (p.Ala621=)
c.1089C>A (p.Ala363=)
c.1056C>A (p.Ala352=)
n.2090C>A
c.1269C>A (p.Ala423=)
n.2084C>A
Xg.53250810G>ACA413163842IQSEC2c.1925C>T (p.Ala642Val)
c.1766C>T (p.Ala589Val)
c.1736C>T (p.Ala579Val)
c.1151C>T (p.Ala384Val)
c.1862C>T (p.Ala621Val)
c.1088C>T (p.Ala363Val)
c.1055C>T (p.Ala352Val)
n.2089C>T
c.1268C>T (p.Ala423Val)
n.2083C>T
Xg.53250810G>CCA413163847IQSEC2c.1925C>G (p.Ala642Gly)
c.1766C>G (p.Ala589Gly)
c.1736C>G (p.Ala579Gly)
c.1151C>G (p.Ala384Gly)
c.1862C>G (p.Ala621Gly)
c.1088C>G (p.Ala363Gly)
c.1055C>G (p.Ala352Gly)
n.2089C>G
c.1268C>G (p.Ala423Gly)
n.2083C>G
Xg.53250810G>TCA413163851IQSEC2c.1925C>A (p.Ala642Asp)
c.1766C>A (p.Ala589Asp)
c.1736C>A (p.Ala579Asp)
c.1151C>A (p.Ala384Asp)
c.1862C>A (p.Ala621Asp)
c.1088C>A (p.Ala363Asp)
c.1055C>A (p.Ala352Asp)
n.2089C>A
c.1268C>A (p.Ala423Asp)
n.2083C>A
Xg.53250811C>ACA413163862IQSEC2c.1924G>T (p.Ala642Ser)
c.1765G>T (p.Ala589Ser)
c.1735G>T (p.Ala579Ser)
c.1150G>T (p.Ala384Ser)
c.1861G>T (p.Ala621Ser)
c.1087G>T (p.Ala363Ser)
c.1054G>T (p.Ala352Ser)
n.2088G>T
c.1267G>T (p.Ala423Ser)
n.2082G>T
Xg.53250811C>GCA413163864IQSEC2c.1924G>C (p.Ala642Pro)
c.1765G>C (p.Ala589Pro)
c.1735G>C (p.Ala579Pro)
c.1150G>C (p.Ala384Pro)
c.1861G>C (p.Ala621Pro)
c.1087G>C (p.Ala363Pro)
c.1054G>C (p.Ala352Pro)
n.2088G>C
c.1267G>C (p.Ala423Pro)
n.2082G>C
Xg.53250811C>TCA413163868IQSEC2c.1924G>A (p.Ala642Thr)
c.1765G>A (p.Ala589Thr)
c.1735G>A (p.Ala579Thr)
c.1150G>A (p.Ala384Thr)
c.1861G>A (p.Ala621Thr)
c.1087G>A (p.Ala363Thr)
c.1054G>A (p.Ala352Thr)
n.2088G>A
c.1267G>A (p.Ala423Thr)
n.2082G>A
Xg.53250812A=CA2429775645IQSEC2c.1923T= (p.Ala641=)
c.1764T= (p.Ala588=)
c.1734T= (p.Ala578=)
c.1149T= (p.Ala383=)
c.1860T= (p.Ala620=)
c.1086T= (p.Ala362=)
c.1053T= (p.Ala351=)
n.2087T=
c.1266T= (p.Ala422=)
n.2081T=
Xg.53250812A>CCA516673993IQSEC2c.1923T>G (p.Ala641=)
c.1764T>G (p.Ala588=)
c.1734T>G (p.Ala578=)
c.1149T>G (p.Ala383=)
c.1860T>G (p.Ala620=)
c.1086T>G (p.Ala362=)
c.1053T>G (p.Ala351=)
n.2087T>G
c.1266T>G (p.Ala422=)
n.2081T>G
Xg.53250812A>GCA516673995IQSEC2c.1923T>C (p.Ala641=)
c.1764T>C (p.Ala588=)
c.1734T>C (p.Ala578=)
c.1149T>C (p.Ala383=)
c.1860T>C (p.Ala620=)
c.1086T>C (p.Ala362=)
c.1053T>C (p.Ala351=)
n.2087T>C
c.1266T>C (p.Ala422=)
n.2081T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53250812A>TCA516673994IQSEC2c.1923T>A (p.Ala641=)
c.1764T>A (p.Ala588=)
c.1734T>A (p.Ala578=)
c.1149T>A (p.Ala383=)
c.1860T>A (p.Ala620=)
c.1086T>A (p.Ala362=)
c.1053T>A (p.Ala351=)
n.2087T>A
c.1266T>A (p.Ala422=)
n.2081T>A
 gnomAD v4
Xg.53250813G>ACA413163870IQSEC2c.1922C>T (p.Ala641Val)
c.1763C>T (p.Ala588Val)
c.1733C>T (p.Ala578Val)
c.1148C>T (p.Ala383Val)
c.1859C>T (p.Ala620Val)
c.1085C>T (p.Ala362Val)
c.1052C>T (p.Ala351Val)
n.2086C>T
c.1265C>T (p.Ala422Val)
n.2080C>T
Xg.53250813G>CCA413163872IQSEC2c.1922C>G (p.Ala641Gly)
c.1763C>G (p.Ala588Gly)
c.1733C>G (p.Ala578Gly)
c.1148C>G (p.Ala383Gly)
c.1859C>G (p.Ala620Gly)
c.1085C>G (p.Ala362Gly)
c.1052C>G (p.Ala351Gly)
n.2086C>G
c.1265C>G (p.Ala422Gly)
n.2080C>G
Xg.53250813G>TCA413163875IQSEC2c.1922C>A (p.Ala641Asp)
c.1763C>A (p.Ala588Asp)
c.1733C>A (p.Ala578Asp)
c.1148C>A (p.Ala383Asp)
c.1859C>A (p.Ala620Asp)
c.1085C>A (p.Ala362Asp)
c.1052C>A (p.Ala351Asp)
n.2086C>A
c.1265C>A (p.Ala422Asp)
n.2080C>A
Xg.53250815_53250834delCA2695233931IQSEC2c.1903_1922del (p.Arg635CysfsTer9)
c.1744_1763del (p.Arg582CysfsTer9)
c.1714_1733del (p.Arg572CysfsTer9)
c.1129_1148del (p.Arg377CysfsTer9)
c.1840_1859del (p.Arg614CysfsTer9)
c.1066_1085del (p.Arg356CysfsTer9)
c.1033_1052del (p.Arg345CysfsTer9)
n.2067_2086del
c.1246_1265del (p.Arg416CysfsTer9)
n.2061_2080del
Xg.53250814C>ACA413163880IQSEC2c.1921G>T (p.Ala641Ser)
c.1762G>T (p.Ala588Ser)
c.1732G>T (p.Ala578Ser)
c.1147G>T (p.Ala383Ser)
c.1858G>T (p.Ala620Ser)
c.1084G>T (p.Ala362Ser)
c.1051G>T (p.Ala351Ser)
n.2085G>T
c.1264G>T (p.Ala422Ser)
n.2079G>T
 dbSNP
Xg.53250814C=CA2429775646IQSEC2c.1921G= (p.Ala641=)
c.1762G= (p.Ala588=)
c.1732G= (p.Ala578=)
c.1147G= (p.Ala383=)
c.1858G= (p.Ala620=)
c.1084G= (p.Ala362=)
c.1051G= (p.Ala351=)
n.2085G=
c.1264G= (p.Ala422=)
n.2079G=
Xg.53250814C>GCA413163882IQSEC2c.1921G>C (p.Ala641Pro)
c.1762G>C (p.Ala588Pro)
c.1732G>C (p.Ala578Pro)
c.1147G>C (p.Ala383Pro)
c.1858G>C (p.Ala620Pro)
c.1084G>C (p.Ala362Pro)
c.1051G>C (p.Ala351Pro)
n.2085G>C
c.1264G>C (p.Ala422Pro)
n.2079G>C
Xg.53250814C>TCA413163887IQSEC2c.1921G>A (p.Ala641Thr)
c.1762G>A (p.Ala588Thr)
c.1732G>A (p.Ala578Thr)
c.1147G>A (p.Ala383Thr)
c.1858G>A (p.Ala620Thr)
c.1084G>A (p.Ala362Thr)
c.1051G>A (p.Ala351Thr)
n.2085G>A
c.1264G>A (p.Ala422Thr)
n.2079G>A
Xg.53250815C>ACA516673998IQSEC2c.1920G>T (p.Arg640=)
c.1761G>T (p.Arg587=)
c.1731G>T (p.Arg577=)
c.1146G>T (p.Arg382=)
c.1857G>T (p.Arg619=)
c.1083G>T (p.Arg361=)
c.1050G>T (p.Arg350=)
n.2084G>T
c.1263G>T (p.Arg421=)
n.2078G>T
Xg.53250815C>GCA516673999IQSEC2c.1920G>C (p.Arg640=)
c.1761G>C (p.Arg587=)
c.1731G>C (p.Arg577=)
c.1146G>C (p.Arg382=)
c.1857G>C (p.Arg619=)
c.1083G>C (p.Arg361=)
c.1050G>C (p.Arg350=)
n.2084G>C
c.1263G>C (p.Arg421=)
n.2078G>C
Xg.53250815C>TCA516674000IQSEC2c.1920G>A (p.Arg640=)
c.1761G>A (p.Arg587=)
c.1731G>A (p.Arg577=)
c.1146G>A (p.Arg382=)
c.1857G>A (p.Arg619=)
c.1083G>A (p.Arg361=)
c.1050G>A (p.Arg350=)
n.2084G>A
c.1263G>A (p.Arg421=)
n.2078G>A
Xg.53250816C>ACA413163899IQSEC2c.1919G>T (p.Arg640Leu)
c.1760G>T (p.Arg587Leu)
c.1730G>T (p.Arg577Leu)
c.1145G>T (p.Arg382Leu)
c.1856G>T (p.Arg619Leu)
c.1082G>T (p.Arg361Leu)
c.1049G>T (p.Arg350Leu)
n.2083G>T
c.1262G>T (p.Arg421Leu)
n.2077G>T
Xg.53250816C=CA2429775647IQSEC2c.1919G= (p.Arg640=)
c.1760G= (p.Arg587=)
c.1730G= (p.Arg577=)
c.1145G= (p.Arg382=)
c.1856G= (p.Arg619=)
c.1082G= (p.Arg361=)
c.1049G= (p.Arg350=)
n.2083G=
c.1262G= (p.Arg421=)
n.2077G=
Xg.53250816C>GCA413163897IQSEC2c.1919G>C (p.Arg640Pro)
c.1760G>C (p.Arg587Pro)
c.1730G>C (p.Arg577Pro)
c.1145G>C (p.Arg382Pro)
c.1856G>C (p.Arg619Pro)
c.1082G>C (p.Arg361Pro)
c.1049G>C (p.Arg350Pro)
n.2083G>C
c.1262G>C (p.Arg421Pro)
n.2077G>C
Xg.53250816C>TCA10420004IQSEC2c.1919G>A (p.Arg640Gln)
c.1760G>A (p.Arg587Gln)
c.1730G>A (p.Arg577Gln)
c.1145G>A (p.Arg382Gln)
c.1856G>A (p.Arg619Gln)
c.1082G>A (p.Arg361Gln)
c.1049G>A (p.Arg350Gln)
n.2083G>A
c.1262G>A (p.Arg421Gln)
n.2077G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250817G>ACA329166201IQSEC2c.1918C>T (p.Arg640Trp)
c.1759C>T (p.Arg587Trp)
c.1729C>T (p.Arg577Trp)
c.1144C>T (p.Arg382Trp)
c.1855C>T (p.Arg619Trp)
c.1081C>T (p.Arg361Trp)
c.1048C>T (p.Arg350Trp)
n.2082C>T
c.1261C>T (p.Arg421Trp)
n.2076C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.53250817G>CCA413163905IQSEC2c.1918C>G (p.Arg640Gly)
c.1759C>G (p.Arg587Gly)
c.1729C>G (p.Arg577Gly)
c.1144C>G (p.Arg382Gly)
c.1855C>G (p.Arg619Gly)
c.1081C>G (p.Arg361Gly)
c.1048C>G (p.Arg350Gly)
n.2082C>G
c.1261C>G (p.Arg421Gly)
n.2076C>G
Xg.53250817G=CA2429775648IQSEC2c.1918C= (p.Arg640=)
c.1759C= (p.Arg587=)
c.1729C= (p.Arg577=)
c.1144C= (p.Arg382=)
c.1855C= (p.Arg619=)
c.1081C= (p.Arg361=)
c.1048C= (p.Arg350=)
n.2082C=
c.1261C= (p.Arg421=)
n.2076C=
Xg.53250817G>TCA516674003IQSEC2c.1918C>A (p.Arg640=)
c.1759C>A (p.Arg587=)
c.1729C>A (p.Arg577=)
c.1144C>A (p.Arg382=)
c.1855C>A (p.Arg619=)
c.1081C>A (p.Arg361=)
c.1048C>A (p.Arg350=)
n.2082C>A
c.1261C>A (p.Arg421=)
n.2076C>A
 gnomAD v4
Xg.53250818C>ACA516674004IQSEC2c.1917G>T (p.Leu639=)
c.1758G>T (p.Leu586=)
c.1728G>T (p.Leu576=)
c.1143G>T (p.Leu381=)
c.1854G>T (p.Leu618=)
c.1080G>T (p.Leu360=)
c.1047G>T (p.Leu349=)
n.2081G>T
c.1260G>T (p.Leu420=)
n.2075G>T
Xg.53250818C>GCA516674005IQSEC2c.1917G>C (p.Leu639=)
c.1758G>C (p.Leu586=)
c.1728G>C (p.Leu576=)
c.1143G>C (p.Leu381=)
c.1854G>C (p.Leu618=)
c.1080G>C (p.Leu360=)
c.1047G>C (p.Leu349=)
n.2081G>C
c.1260G>C (p.Leu420=)
n.2075G>C
Xg.53250818C>TCA516674006IQSEC2c.1917G>A (p.Leu639=)
c.1758G>A (p.Leu586=)
c.1728G>A (p.Leu576=)
c.1143G>A (p.Leu381=)
c.1854G>A (p.Leu618=)
c.1080G>A (p.Leu360=)
c.1047G>A (p.Leu349=)
n.2081G>A
c.1260G>A (p.Leu420=)
n.2075G>A
Xg.53250819A>CCA413163910IQSEC2c.1916T>G (p.Leu639Arg)
c.1757T>G (p.Leu586Arg)
c.1727T>G (p.Leu576Arg)
c.1142T>G (p.Leu381Arg)
c.1853T>G (p.Leu618Arg)
c.1079T>G (p.Leu360Arg)
c.1046T>G (p.Leu349Arg)
n.2080T>G
c.1259T>G (p.Leu420Arg)
n.2074T>G
Xg.53250819A>GCA413163914IQSEC2c.1916T>C (p.Leu639Pro)
c.1757T>C (p.Leu586Pro)
c.1727T>C (p.Leu576Pro)
c.1142T>C (p.Leu381Pro)
c.1853T>C (p.Leu618Pro)
c.1079T>C (p.Leu360Pro)
c.1046T>C (p.Leu349Pro)
n.2080T>C
c.1259T>C (p.Leu420Pro)
n.2074T>C
Xg.53250819A>TCA413163912IQSEC2c.1916T>A (p.Leu639Gln)
c.1757T>A (p.Leu586Gln)
c.1727T>A (p.Leu576Gln)
c.1142T>A (p.Leu381Gln)
c.1853T>A (p.Leu618Gln)
c.1079T>A (p.Leu360Gln)
c.1046T>A (p.Leu349Gln)
n.2080T>A
c.1259T>A (p.Leu420Gln)
n.2074T>A
Xg.53250820G>ACA516674009IQSEC2c.1915C>T (p.Leu639=)
c.1756C>T (p.Leu586=)
c.1726C>T (p.Leu576=)
c.1141C>T (p.Leu381=)
c.1852C>T (p.Leu618=)
c.1078C>T (p.Leu360=)
c.1045C>T (p.Leu349=)
n.2079C>T
c.1258C>T (p.Leu420=)
n.2073C>T
 dbSNP gnomAD v2
Xg.53250820G>CCA413163918IQSEC2c.1915C>G (p.Leu639Val)
c.1756C>G (p.Leu586Val)
c.1726C>G (p.Leu576Val)
c.1141C>G (p.Leu381Val)
c.1852C>G (p.Leu618Val)
c.1078C>G (p.Leu360Val)
c.1045C>G (p.Leu349Val)
n.2079C>G
c.1258C>G (p.Leu420Val)
n.2073C>G
Xg.53250820G=CA2429775649IQSEC2c.1915C= (p.Leu639=)
c.1756C= (p.Leu586=)
c.1726C= (p.Leu576=)
c.1141C= (p.Leu381=)
c.1852C= (p.Leu618=)
c.1078C= (p.Leu360=)
c.1045C= (p.Leu349=)
n.2079C=
c.1258C= (p.Leu420=)
n.2073C=
Xg.53250820G>TCA413163921IQSEC2c.1915C>A (p.Leu639Met)
c.1756C>A (p.Leu586Met)
c.1726C>A (p.Leu576Met)
c.1141C>A (p.Leu381Met)
c.1852C>A (p.Leu618Met)
c.1078C>A (p.Leu360Met)
c.1045C>A (p.Leu349Met)
n.2079C>A
c.1258C>A (p.Leu420Met)
n.2073C>A
Xg.53250821C>ACA516674014IQSEC2c.1914G>T (p.Arg638=)
c.1755G>T (p.Arg585=)
c.1725G>T (p.Arg575=)
c.1140G>T (p.Arg380=)
c.1851G>T (p.Arg617=)
c.1077G>T (p.Arg359=)
c.1044G>T (p.Arg348=)
n.2078G>T
c.1257G>T (p.Arg419=)
n.2072G>T
 gnomAD v4
Xg.53250821C>GCA516674011IQSEC2c.1914G>C (p.Arg638=)
c.1755G>C (p.Arg585=)
c.1725G>C (p.Arg575=)
c.1140G>C (p.Arg380=)
c.1851G>C (p.Arg617=)
c.1077G>C (p.Arg359=)
c.1044G>C (p.Arg348=)
n.2078G>C
c.1257G>C (p.Arg419=)
n.2072G>C
Xg.53250821C>TCA516674012IQSEC2c.1914G>A (p.Arg638=)
c.1755G>A (p.Arg585=)
c.1725G>A (p.Arg575=)
c.1140G>A (p.Arg380=)
c.1851G>A (p.Arg617=)
c.1077G>A (p.Arg359=)
c.1044G>A (p.Arg348=)
n.2078G>A
c.1257G>A (p.Arg419=)
n.2072G>A
Xg.53250822C>ACA413163925IQSEC2c.1913G>T (p.Arg638Leu)
c.1754G>T (p.Arg585Leu)
c.1724G>T (p.Arg575Leu)
c.1139G>T (p.Arg380Leu)
c.1850G>T (p.Arg617Leu)
c.1076G>T (p.Arg359Leu)
c.1043G>T (p.Arg348Leu)
n.2077G>T
c.1256G>T (p.Arg419Leu)
n.2071G>T
 gnomAD v4
Xg.53250822C=CA2429775650IQSEC2c.1913G= (p.Arg638=)
c.1754G= (p.Arg585=)
c.1724G= (p.Arg575=)
c.1139G= (p.Arg380=)
c.1850G= (p.Arg617=)
c.1076G= (p.Arg359=)
c.1043G= (p.Arg348=)
n.2077G=
c.1256G= (p.Arg419=)
n.2071G=
Xg.53250822C>GCA413163931IQSEC2c.1913G>C (p.Arg638Pro)
c.1754G>C (p.Arg585Pro)
c.1724G>C (p.Arg575Pro)
c.1139G>C (p.Arg380Pro)
c.1850G>C (p.Arg617Pro)
c.1076G>C (p.Arg359Pro)
c.1043G>C (p.Arg348Pro)
n.2077G>C
c.1256G>C (p.Arg419Pro)
n.2071G>C
Xg.53250822C>TCA413163929IQSEC2c.1913G>A (p.Arg638Gln)
c.1754G>A (p.Arg585Gln)
c.1724G>A (p.Arg575Gln)
c.1139G>A (p.Arg380Gln)
c.1850G>A (p.Arg617Gln)
c.1076G>A (p.Arg359Gln)
c.1043G>A (p.Arg348Gln)
n.2077G>A
c.1256G>A (p.Arg419Gln)
n.2071G>A
 ClinVar dbSNP gnomAD v4
Xg.53250823G>ACA413163939IQSEC2c.1912C>T (p.Arg638Trp)
c.1753C>T (p.Arg585Trp)
c.1723C>T (p.Arg575Trp)
c.1138C>T (p.Arg380Trp)
c.1849C>T (p.Arg617Trp)
c.1075C>T (p.Arg359Trp)
c.1042C>T (p.Arg348Trp)
n.2076C>T
c.1255C>T (p.Arg419Trp)
n.2070C>T
 gnomAD v4
Xg.53250823G>CCA413163942IQSEC2c.1912C>G (p.Arg638Gly)
c.1753C>G (p.Arg585Gly)
c.1723C>G (p.Arg575Gly)
c.1138C>G (p.Arg380Gly)
c.1849C>G (p.Arg617Gly)
c.1075C>G (p.Arg359Gly)
c.1042C>G (p.Arg348Gly)
n.2076C>G
c.1255C>G (p.Arg419Gly)
n.2070C>G
Xg.53250823G>TCA516674021IQSEC2c.1912C>A (p.Arg638=)
c.1753C>A (p.Arg585=)
c.1723C>A (p.Arg575=)
c.1138C>A (p.Arg380=)
c.1849C>A (p.Arg617=)
c.1075C>A (p.Arg359=)
c.1042C>A (p.Arg348=)
n.2076C>A
c.1255C>A (p.Arg419=)
n.2070C>A
Xg.53250824G>ACA516674022IQSEC2c.1911C>T (p.Phe637=)
c.1752C>T (p.Phe584=)
c.1722C>T (p.Phe574=)
c.1137C>T (p.Phe379=)
c.1848C>T (p.Phe616=)
c.1074C>T (p.Phe358=)
c.1041C>T (p.Phe347=)
n.2075C>T
c.1254C>T (p.Phe418=)
n.2069C>T
Xg.53250824G>CCA413163944IQSEC2c.1911C>G (p.Phe637Leu)
c.1752C>G (p.Phe584Leu)
c.1722C>G (p.Phe574Leu)
c.1137C>G (p.Phe379Leu)
c.1848C>G (p.Phe616Leu)
c.1074C>G (p.Phe358Leu)
c.1041C>G (p.Phe347Leu)
n.2075C>G
c.1254C>G (p.Phe418Leu)
n.2069C>G
Xg.53250824G>TCA413163945IQSEC2c.1911C>A (p.Phe637Leu)
c.1752C>A (p.Phe584Leu)
c.1722C>A (p.Phe574Leu)
c.1137C>A (p.Phe379Leu)
c.1848C>A (p.Phe616Leu)
c.1074C>A (p.Phe358Leu)
c.1041C>A (p.Phe347Leu)
n.2075C>A
c.1254C>A (p.Phe418Leu)
n.2069C>A
Xg.53250825A>CCA413163950IQSEC2c.1910T>G (p.Phe637Cys)
c.1751T>G (p.Phe584Cys)
c.1721T>G (p.Phe574Cys)
c.1136T>G (p.Phe379Cys)
c.1847T>G (p.Phe616Cys)
c.1073T>G (p.Phe358Cys)
c.1040T>G (p.Phe347Cys)
n.2074T>G
c.1253T>G (p.Phe418Cys)
n.2068T>G
Xg.53250825A>GCA413163954IQSEC2c.1910T>C (p.Phe637Ser)
c.1751T>C (p.Phe584Ser)
c.1721T>C (p.Phe574Ser)
c.1136T>C (p.Phe379Ser)
c.1847T>C (p.Phe616Ser)
c.1073T>C (p.Phe358Ser)
c.1040T>C (p.Phe347Ser)
n.2074T>C
c.1253T>C (p.Phe418Ser)
n.2068T>C
Xg.53250825A>TCA413163966IQSEC2c.1910T>A (p.Phe637Tyr)
c.1751T>A (p.Phe584Tyr)
c.1721T>A (p.Phe574Tyr)
c.1136T>A (p.Phe379Tyr)
c.1847T>A (p.Phe616Tyr)
c.1073T>A (p.Phe358Tyr)
c.1040T>A (p.Phe347Tyr)
n.2074T>A
c.1253T>A (p.Phe418Tyr)
n.2068T>A
Xg.53250826A>CCA413163972IQSEC2c.1909T>G (p.Phe637Val)
c.1750T>G (p.Phe584Val)
c.1720T>G (p.Phe574Val)
c.1135T>G (p.Phe379Val)
c.1846T>G (p.Phe616Val)
c.1072T>G (p.Phe358Val)
c.1039T>G (p.Phe347Val)
n.2073T>G
c.1252T>G (p.Phe418Val)
n.2067T>G
Xg.53250826A>GCA413163976IQSEC2c.1909T>C (p.Phe637Leu)
c.1750T>C (p.Phe584Leu)
c.1720T>C (p.Phe574Leu)
c.1135T>C (p.Phe379Leu)
c.1846T>C (p.Phe616Leu)
c.1072T>C (p.Phe358Leu)
c.1039T>C (p.Phe347Leu)
n.2073T>C
c.1252T>C (p.Phe418Leu)
n.2067T>C
Xg.53250826A>TCA413163979IQSEC2c.1909T>A (p.Phe637Ile)
c.1750T>A (p.Phe584Ile)
c.1720T>A (p.Phe574Ile)
c.1135T>A (p.Phe379Ile)
c.1846T>A (p.Phe616Ile)
c.1072T>A (p.Phe358Ile)
c.1039T>A (p.Phe347Ile)
n.2073T>A
c.1252T>A (p.Phe418Ile)
n.2067T>A
Xg.53250827A>CCA413163983IQSEC2c.1908T>G (p.Asp636Glu)
c.1749T>G (p.Asp583Glu)
c.1719T>G (p.Asp573Glu)
c.1134T>G (p.Asp378Glu)
c.1845T>G (p.Asp615Glu)
c.1071T>G (p.Asp357Glu)
c.1038T>G (p.Asp346Glu)
n.2072T>G
c.1251T>G (p.Asp417Glu)
n.2066T>G
Xg.53250827A>GCA516674032IQSEC2c.1908T>C (p.Asp636=)
c.1749T>C (p.Asp583=)
c.1719T>C (p.Asp573=)
c.1134T>C (p.Asp378=)
c.1845T>C (p.Asp615=)
c.1071T>C (p.Asp357=)
c.1038T>C (p.Asp346=)
n.2072T>C
c.1251T>C (p.Asp417=)
n.2066T>C
 gnomAD v4
Xg.53250827A>TCA413163985IQSEC2c.1908T>A (p.Asp636Glu)
c.1749T>A (p.Asp583Glu)
c.1719T>A (p.Asp573Glu)
c.1134T>A (p.Asp378Glu)
c.1845T>A (p.Asp615Glu)
c.1071T>A (p.Asp357Glu)
c.1038T>A (p.Asp346Glu)
n.2072T>A
c.1251T>A (p.Asp417Glu)
n.2066T>A
Xg.53250828T>ACA413163989IQSEC2c.1907A>T (p.Asp636Val)
c.1748A>T (p.Asp583Val)
c.1718A>T (p.Asp573Val)
c.1133A>T (p.Asp378Val)
c.1844A>T (p.Asp615Val)
c.1070A>T (p.Asp357Val)
c.1037A>T (p.Asp346Val)
n.2071A>T
c.1250A>T (p.Asp417Val)
n.2065A>T
Xg.53250828T>CCA413163993IQSEC2c.1907A>G (p.Asp636Gly)
c.1748A>G (p.Asp583Gly)
c.1718A>G (p.Asp573Gly)
c.1133A>G (p.Asp378Gly)
c.1844A>G (p.Asp615Gly)
c.1070A>G (p.Asp357Gly)
c.1037A>G (p.Asp346Gly)
n.2071A>G
c.1250A>G (p.Asp417Gly)
n.2065A>G
Xg.53250828T>GCA413163996IQSEC2c.1907A>C (p.Asp636Ala)
c.1748A>C (p.Asp583Ala)
c.1718A>C (p.Asp573Ala)
c.1133A>C (p.Asp378Ala)
c.1844A>C (p.Asp615Ala)
c.1070A>C (p.Asp357Ala)
c.1037A>C (p.Asp346Ala)
n.2071A>C
c.1250A>C (p.Asp417Ala)
n.2065A>C
Xg.53250829C>ACA413164006IQSEC2c.1906G>T (p.Asp636Tyr)
c.1747G>T (p.Asp583Tyr)
c.1717G>T (p.Asp573Tyr)
c.1132G>T (p.Asp378Tyr)
c.1843G>T (p.Asp615Tyr)
c.1069G>T (p.Asp357Tyr)
c.1036G>T (p.Asp346Tyr)
n.2070G>T
c.1249G>T (p.Asp417Tyr)
n.2064G>T
Xg.53250829C>GCA413164010IQSEC2c.1906G>C (p.Asp636His)
c.1747G>C (p.Asp583His)
c.1717G>C (p.Asp573His)
c.1132G>C (p.Asp378His)
c.1843G>C (p.Asp615His)
c.1069G>C (p.Asp357His)
c.1036G>C (p.Asp346His)
n.2070G>C
c.1249G>C (p.Asp417His)
n.2064G>C
Xg.53250829C>TCA413164009IQSEC2c.1906G>A (p.Asp636Asn)
c.1747G>A (p.Asp583Asn)
c.1717G>A (p.Asp573Asn)
c.1132G>A (p.Asp378Asn)
c.1843G>A (p.Asp615Asn)
c.1069G>A (p.Asp357Asn)
c.1036G>A (p.Asp346Asn)
n.2070G>A
c.1249G>A (p.Asp417Asn)
n.2064G>A
 gnomAD v4
Xg.53250830C>ACA516674036IQSEC2c.1905G>T (p.Arg635=)
c.1746G>T (p.Arg582=)
c.1716G>T (p.Arg572=)
c.1131G>T (p.Arg377=)
c.1842G>T (p.Arg614=)
c.1068G>T (p.Arg356=)
c.1035G>T (p.Arg345=)
n.2069G>T
c.1248G>T (p.Arg416=)
n.2063G>T
Xg.53250830C>GCA516674038IQSEC2c.1905G>C (p.Arg635=)
c.1746G>C (p.Arg582=)
c.1716G>C (p.Arg572=)
c.1131G>C (p.Arg377=)
c.1842G>C (p.Arg614=)
c.1068G>C (p.Arg356=)
c.1035G>C (p.Arg345=)
n.2069G>C
c.1248G>C (p.Arg416=)
n.2063G>C
Xg.53250830C>TCA516674039IQSEC2c.1905G>A (p.Arg635=)
c.1746G>A (p.Arg582=)
c.1716G>A (p.Arg572=)
c.1131G>A (p.Arg377=)
c.1842G>A (p.Arg614=)
c.1068G>A (p.Arg356=)
c.1035G>A (p.Arg345=)
n.2069G>A
c.1248G>A (p.Arg416=)
n.2063G>A
Xg.53250831C>ACA413164011IQSEC2c.1904G>T (p.Arg635Leu)
c.1745G>T (p.Arg582Leu)
c.1715G>T (p.Arg572Leu)
c.1130G>T (p.Arg377Leu)
c.1841G>T (p.Arg614Leu)
c.1067G>T (p.Arg356Leu)
c.1034G>T (p.Arg345Leu)
n.2068G>T
c.1247G>T (p.Arg416Leu)
n.2062G>T
Xg.53250831C=CA2429775651IQSEC2c.1904G= (p.Arg635=)
c.1745G= (p.Arg582=)
c.1715G= (p.Arg572=)
c.1130G= (p.Arg377=)
c.1841G= (p.Arg614=)
c.1067G= (p.Arg356=)
c.1034G= (p.Arg345=)
n.2068G=
c.1247G= (p.Arg416=)
n.2062G=
Xg.53250831C>GCA413164014IQSEC2c.1904G>C (p.Arg635Pro)
c.1745G>C (p.Arg582Pro)
c.1715G>C (p.Arg572Pro)
c.1130G>C (p.Arg377Pro)
c.1841G>C (p.Arg614Pro)
c.1067G>C (p.Arg356Pro)
c.1034G>C (p.Arg345Pro)
n.2068G>C
c.1247G>C (p.Arg416Pro)
n.2062G>C
Xg.53250831C>TCA10420005IQSEC2c.1904G>A (p.Arg635Gln)
c.1745G>A (p.Arg582Gln)
c.1715G>A (p.Arg572Gln)
c.1130G>A (p.Arg377Gln)
c.1841G>A (p.Arg614Gln)
c.1067G>A (p.Arg356Gln)
c.1034G>A (p.Arg345Gln)
n.2068G>A
c.1247G>A (p.Arg416Gln)
n.2062G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250832G>ACA16621445IQSEC2c.1903C>T (p.Arg635Trp)
c.1744C>T (p.Arg582Trp)
c.1714C>T (p.Arg572Trp)
c.1129C>T (p.Arg377Trp)
c.1840C>T (p.Arg614Trp)
c.1066C>T (p.Arg356Trp)
c.1033C>T (p.Arg345Trp)
n.2067C>T
c.1246C>T (p.Arg416Trp)
n.2061C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53250832G>CCA413164021IQSEC2c.1903C>G (p.Arg635Gly)
c.1744C>G (p.Arg582Gly)
c.1714C>G (p.Arg572Gly)
c.1129C>G (p.Arg377Gly)
c.1840C>G (p.Arg614Gly)
c.1066C>G (p.Arg356Gly)
c.1033C>G (p.Arg345Gly)
n.2067C>G
c.1246C>G (p.Arg416Gly)
n.2061C>G
Xg.53250832G=CA2429775652IQSEC2c.1903C= (p.Arg635=)
c.1744C= (p.Arg582=)
c.1714C= (p.Arg572=)
c.1129C= (p.Arg377=)
c.1840C= (p.Arg614=)
c.1066C= (p.Arg356=)
c.1033C= (p.Arg345=)
n.2067C=
c.1246C= (p.Arg416=)
n.2061C=
Xg.53250832G>TCA516674041IQSEC2c.1903C>A (p.Arg635=)
c.1744C>A (p.Arg582=)
c.1714C>A (p.Arg572=)
c.1129C>A (p.Arg377=)
c.1840C>A (p.Arg614=)
c.1066C>A (p.Arg356=)
c.1033C>A (p.Arg345=)
n.2067C>A
c.1246C>A (p.Arg416=)
n.2061C>A
Xg.53250833G>ACA516674046IQSEC2c.1902C>T (p.Cys634=)
c.1743C>T (p.Cys581=)
c.1713C>T (p.Cys571=)
c.1128C>T (p.Cys376=)
c.1839C>T (p.Cys613=)
c.1065C>T (p.Cys355=)
c.1032C>T (p.Cys344=)
n.2066C>T
c.1245C>T (p.Cys415=)
n.2060C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.53250833G>CCA413164023IQSEC2c.1902C>G (p.Cys634Trp)
c.1743C>G (p.Cys581Trp)
c.1713C>G (p.Cys571Trp)
c.1128C>G (p.Cys376Trp)
c.1839C>G (p.Cys613Trp)
c.1065C>G (p.Cys355Trp)
c.1032C>G (p.Cys344Trp)
n.2066C>G
c.1245C>G (p.Cys415Trp)
n.2060C>G
Xg.53250833G=CA2429775653IQSEC2c.1902C= (p.Cys634=)
c.1743C= (p.Cys581=)
c.1713C= (p.Cys571=)
c.1128C= (p.Cys376=)
c.1839C= (p.Cys613=)
c.1065C= (p.Cys355=)
c.1032C= (p.Cys344=)
n.2066C=
c.1245C= (p.Cys415=)
n.2060C=
Xg.53250833G>TCA413164027IQSEC2c.1902C>A (p.Cys634Ter)
c.1743C>A (p.Cys581Ter)
c.1713C>A (p.Cys571Ter)
c.1128C>A (p.Cys376Ter)
c.1839C>A (p.Cys613Ter)
c.1065C>A (p.Cys355Ter)
c.1032C>A (p.Cys344Ter)
n.2066C>A
c.1245C>A (p.Cys415Ter)
n.2060C>A
Xg.53250834C>ACA413164036IQSEC2c.1901G>T (p.Cys634Phe)
c.1742G>T (p.Cys581Phe)
c.1712G>T (p.Cys571Phe)
c.1127G>T (p.Cys376Phe)
c.1838G>T (p.Cys613Phe)
c.1064G>T (p.Cys355Phe)
c.1031G>T (p.Cys344Phe)
n.2065G>T
c.1244G>T (p.Cys415Phe)
n.2059G>T
Xg.53250834C>GCA413164038IQSEC2c.1901G>C (p.Cys634Ser)
c.1742G>C (p.Cys581Ser)
c.1712G>C (p.Cys571Ser)
c.1127G>C (p.Cys376Ser)
c.1838G>C (p.Cys613Ser)
c.1064G>C (p.Cys355Ser)
c.1031G>C (p.Cys344Ser)
n.2065G>C
c.1244G>C (p.Cys415Ser)
n.2059G>C
Xg.53250834C>TCA413164041IQSEC2c.1901G>A (p.Cys634Tyr)
c.1742G>A (p.Cys581Tyr)
c.1712G>A (p.Cys571Tyr)
c.1127G>A (p.Cys376Tyr)
c.1838G>A (p.Cys613Tyr)
c.1064G>A (p.Cys355Tyr)
c.1031G>A (p.Cys344Tyr)
n.2065G>A
c.1244G>A (p.Cys415Tyr)
n.2059G>A
Xg.53250835A>CCA413164053IQSEC2c.1900T>G (p.Cys634Gly)
c.1741T>G (p.Cys581Gly)
c.1711T>G (p.Cys571Gly)
c.1126T>G (p.Cys376Gly)
c.1837T>G (p.Cys613Gly)
c.1063T>G (p.Cys355Gly)
c.1030T>G (p.Cys344Gly)
n.2064T>G
c.1243T>G (p.Cys415Gly)
n.2058T>G
Xg.53250835A>GCA413164057IQSEC2c.1900T>C (p.Cys634Arg)
c.1741T>C (p.Cys581Arg)
c.1711T>C (p.Cys571Arg)
c.1126T>C (p.Cys376Arg)
c.1837T>C (p.Cys613Arg)
c.1063T>C (p.Cys355Arg)
c.1030T>C (p.Cys344Arg)
n.2064T>C
c.1243T>C (p.Cys415Arg)
n.2058T>C
Xg.53250835A>TCA413164050IQSEC2c.1900T>A (p.Cys634Ser)
c.1741T>A (p.Cys581Ser)
c.1711T>A (p.Cys571Ser)
c.1126T>A (p.Cys376Ser)
c.1837T>A (p.Cys613Ser)
c.1063T>A (p.Cys355Ser)
c.1030T>A (p.Cys344Ser)
n.2064T>A
c.1243T>A (p.Cys415Ser)
n.2058T>A
Xg.53250836C>ACA413164064IQSEC2c.1899G>T (p.Glu633Asp)
c.1740G>T (p.Glu580Asp)
c.1710G>T (p.Glu570Asp)
c.1125G>T (p.Glu375Asp)
c.1836G>T (p.Glu612Asp)
c.1062G>T (p.Glu354Asp)
c.1029G>T (p.Glu343Asp)
n.2063G>T
c.1242G>T (p.Glu414Asp)
n.2057G>T
Xg.53250836C>GCA413164065IQSEC2c.1899G>C (p.Glu633Asp)
c.1740G>C (p.Glu580Asp)
c.1710G>C (p.Glu570Asp)
c.1125G>C (p.Glu375Asp)
c.1836G>C (p.Glu612Asp)
c.1062G>C (p.Glu354Asp)
c.1029G>C (p.Glu343Asp)
n.2063G>C
c.1242G>C (p.Glu414Asp)
n.2057G>C
Xg.53250836C>TCA516674052IQSEC2c.1899G>A (p.Glu633=)
c.1740G>A (p.Glu580=)
c.1710G>A (p.Glu570=)
c.1125G>A (p.Glu375=)
c.1836G>A (p.Glu612=)
c.1062G>A (p.Glu354=)
c.1029G>A (p.Glu343=)
n.2063G>A
c.1242G>A (p.Glu414=)
n.2057G>A
Xg.53250837T>ACA413164066IQSEC2c.1898A>T (p.Glu633Val)
c.1739A>T (p.Glu580Val)
c.1709A>T (p.Glu570Val)
c.1124A>T (p.Glu375Val)
c.1835A>T (p.Glu612Val)
c.1061A>T (p.Glu354Val)
c.1028A>T (p.Glu343Val)
n.2062A>T
c.1241A>T (p.Glu414Val)
n.2056A>T
Xg.53250837T>CCA413164068IQSEC2c.1898A>G (p.Glu633Gly)
c.1739A>G (p.Glu580Gly)
c.1709A>G (p.Glu570Gly)
c.1124A>G (p.Glu375Gly)
c.1835A>G (p.Glu612Gly)
c.1061A>G (p.Glu354Gly)
c.1028A>G (p.Glu343Gly)
n.2062A>G
c.1241A>G (p.Glu414Gly)
n.2056A>G
 gnomAD v4
Xg.53250837T>GCA413164072IQSEC2c.1898A>C (p.Glu633Ala)
c.1739A>C (p.Glu580Ala)
c.1709A>C (p.Glu570Ala)
c.1124A>C (p.Glu375Ala)
c.1835A>C (p.Glu612Ala)
c.1061A>C (p.Glu354Ala)
c.1028A>C (p.Glu343Ala)
n.2062A>C
c.1241A>C (p.Glu414Ala)
n.2056A>C
Xg.53250838C>ACA413164077IQSEC2c.1897G>T (p.Glu633Ter)
c.1738G>T (p.Glu580Ter)
c.1708G>T (p.Glu570Ter)
c.1123G>T (p.Glu375Ter)
c.1834G>T (p.Glu612Ter)
c.1060G>T (p.Glu354Ter)
c.1027G>T (p.Glu343Ter)
n.2061G>T
c.1240G>T (p.Glu414Ter)
n.2055G>T
Xg.53250838C>GCA413164080IQSEC2c.1897G>C (p.Glu633Gln)
c.1738G>C (p.Glu580Gln)
c.1708G>C (p.Glu570Gln)
c.1123G>C (p.Glu375Gln)
c.1834G>C (p.Glu612Gln)
c.1060G>C (p.Glu354Gln)
c.1027G>C (p.Glu343Gln)
n.2061G>C
c.1240G>C (p.Glu414Gln)
n.2055G>C
Xg.53250838C>TCA413164086IQSEC2c.1897G>A (p.Glu633Lys)
c.1738G>A (p.Glu580Lys)
c.1708G>A (p.Glu570Lys)
c.1123G>A (p.Glu375Lys)
c.1834G>A (p.Glu612Lys)
c.1060G>A (p.Glu354Lys)
c.1027G>A (p.Glu343Lys)
n.2061G>A
c.1240G>A (p.Glu414Lys)
n.2055G>A
Xg.53250839C>ACA413164091IQSEC2c.1896G>T (p.Leu632Phe)
c.1737G>T (p.Leu579Phe)
c.1707G>T (p.Leu569Phe)
c.1122G>T (p.Leu374Phe)
c.1833G>T (p.Leu611Phe)
c.1059G>T (p.Leu353Phe)
c.1026G>T (p.Leu342Phe)
n.2060G>T
c.1239G>T (p.Leu413Phe)
n.2054G>T
Xg.53250839C>GCA413164099IQSEC2c.1896G>C (p.Leu632Phe)
c.1737G>C (p.Leu579Phe)
c.1707G>C (p.Leu569Phe)
c.1122G>C (p.Leu374Phe)
c.1833G>C (p.Leu611Phe)
c.1059G>C (p.Leu353Phe)
c.1026G>C (p.Leu342Phe)
n.2060G>C
c.1239G>C (p.Leu413Phe)
n.2054G>C
Xg.53250839C>TCA516674056IQSEC2c.1896G>A (p.Leu632=)
c.1737G>A (p.Leu579=)
c.1707G>A (p.Leu569=)
c.1122G>A (p.Leu374=)
c.1833G>A (p.Leu611=)
c.1059G>A (p.Leu353=)
c.1026G>A (p.Leu342=)
n.2060G>A
c.1239G>A (p.Leu413=)
n.2054G>A
Xg.53250840A>CCA413164103IQSEC2c.1895T>G (p.Leu632Trp)
c.1736T>G (p.Leu579Trp)
c.1706T>G (p.Leu569Trp)
c.1121T>G (p.Leu374Trp)
c.1832T>G (p.Leu611Trp)
c.1058T>G (p.Leu353Trp)
c.1025T>G (p.Leu342Trp)
n.2059T>G
c.1238T>G (p.Leu413Trp)
n.2053T>G
Xg.53250840A>GCA413164116IQSEC2c.1895T>C (p.Leu632Ser)
c.1736T>C (p.Leu579Ser)
c.1706T>C (p.Leu569Ser)
c.1121T>C (p.Leu374Ser)
c.1832T>C (p.Leu611Ser)
c.1058T>C (p.Leu353Ser)
c.1025T>C (p.Leu342Ser)
n.2059T>C
c.1238T>C (p.Leu413Ser)
n.2053T>C
Xg.53250840A>TCA413164118IQSEC2c.1895T>A (p.Leu632Ter)
c.1736T>A (p.Leu579Ter)
c.1706T>A (p.Leu569Ter)
c.1121T>A (p.Leu374Ter)
c.1832T>A (p.Leu611Ter)
c.1058T>A (p.Leu353Ter)
c.1025T>A (p.Leu342Ter)
n.2059T>A
c.1238T>A (p.Leu413Ter)
n.2053T>A
Xg.53250841A>CCA413164120IQSEC2c.1894T>G (p.Leu632Val)
c.1735T>G (p.Leu579Val)
c.1705T>G (p.Leu569Val)
c.1120T>G (p.Leu374Val)
c.1831T>G (p.Leu611Val)
c.1057T>G (p.Leu353Val)
c.1024T>G (p.Leu342Val)
n.2058T>G
c.1237T>G (p.Leu413Val)
n.2052T>G
Xg.53250841A>GCA516674058IQSEC2c.1894T>C (p.Leu632=)
c.1735T>C (p.Leu579=)
c.1705T>C (p.Leu569=)
c.1120T>C (p.Leu374=)
c.1831T>C (p.Leu611=)
c.1057T>C (p.Leu353=)
c.1024T>C (p.Leu342=)
n.2058T>C
c.1237T>C (p.Leu413=)
n.2052T>C
Xg.53250841A>TCA413164119IQSEC2c.1894T>A (p.Leu632Met)
c.1735T>A (p.Leu579Met)
c.1705T>A (p.Leu569Met)
c.1120T>A (p.Leu374Met)
c.1831T>A (p.Leu611Met)
c.1057T>A (p.Leu353Met)
c.1024T>A (p.Leu342Met)
n.2058T>A
c.1237T>A (p.Leu413Met)
n.2052T>A
Xg.53250842G>ACA516674064IQSEC2c.1893C>T (p.Cys631=)
c.1734C>T (p.Cys578=)
c.1704C>T (p.Cys568=)
c.1119C>T (p.Cys373=)
c.1830C>T (p.Cys610=)
c.1056C>T (p.Cys352=)
c.1023C>T (p.Cys341=)
n.2057C>T
c.1236C>T (p.Cys412=)
n.2051C>T
Xg.53250842G>CCA413164123IQSEC2c.1893C>G (p.Cys631Trp)
c.1734C>G (p.Cys578Trp)
c.1704C>G (p.Cys568Trp)
c.1119C>G (p.Cys373Trp)
c.1830C>G (p.Cys610Trp)
c.1056C>G (p.Cys352Trp)
c.1023C>G (p.Cys341Trp)
n.2057C>G
c.1236C>G (p.Cys412Trp)
n.2051C>G
Xg.53250842G>TCA413164128IQSEC2c.1893C>A (p.Cys631Ter)
c.1734C>A (p.Cys578Ter)
c.1704C>A (p.Cys568Ter)
c.1119C>A (p.Cys373Ter)
c.1830C>A (p.Cys610Ter)
c.1056C>A (p.Cys352Ter)
c.1023C>A (p.Cys341Ter)
n.2057C>A
c.1236C>A (p.Cys412Ter)
n.2051C>A
Xg.53250843C>ACA413164135IQSEC2c.1892G>T (p.Cys631Phe)
c.1733G>T (p.Cys578Phe)
c.1703G>T (p.Cys568Phe)
c.1118G>T (p.Cys373Phe)
c.1829G>T (p.Cys610Phe)
c.1055G>T (p.Cys352Phe)
c.1022G>T (p.Cys341Phe)
n.2056G>T
c.1235G>T (p.Cys412Phe)
n.2050G>T
 COSMIC COSMIC COSMIC
Xg.53250843C>GCA413164138IQSEC2c.1892G>C (p.Cys631Ser)
c.1733G>C (p.Cys578Ser)
c.1703G>C (p.Cys568Ser)
c.1118G>C (p.Cys373Ser)
c.1829G>C (p.Cys610Ser)
c.1055G>C (p.Cys352Ser)
c.1022G>C (p.Cys341Ser)
n.2056G>C
c.1235G>C (p.Cys412Ser)
n.2050G>C
Xg.53250843C>TCA413164142IQSEC2c.1892G>A (p.Cys631Tyr)
c.1733G>A (p.Cys578Tyr)
c.1703G>A (p.Cys568Tyr)
c.1118G>A (p.Cys373Tyr)
c.1829G>A (p.Cys610Tyr)
c.1055G>A (p.Cys352Tyr)
c.1022G>A (p.Cys341Tyr)
n.2056G>A
c.1235G>A (p.Cys412Tyr)
n.2050G>A
Xg.53250844A>CCA413164147IQSEC2c.1891T>G (p.Cys631Gly)
c.1732T>G (p.Cys578Gly)
c.1702T>G (p.Cys568Gly)
c.1117T>G (p.Cys373Gly)
c.1828T>G (p.Cys610Gly)
c.1054T>G (p.Cys352Gly)
c.1021T>G (p.Cys341Gly)
n.2055T>G
c.1234T>G (p.Cys412Gly)
n.2049T>G
Xg.53250844A>GCA413164151IQSEC2c.1891T>C (p.Cys631Arg)
c.1732T>C (p.Cys578Arg)
c.1702T>C (p.Cys568Arg)
c.1117T>C (p.Cys373Arg)
c.1828T>C (p.Cys610Arg)
c.1054T>C (p.Cys352Arg)
c.1021T>C (p.Cys341Arg)
n.2055T>C
c.1234T>C (p.Cys412Arg)
n.2049T>C
Xg.53250844A>TCA413164154IQSEC2c.1891T>A (p.Cys631Ser)
c.1732T>A (p.Cys578Ser)
c.1702T>A (p.Cys568Ser)
c.1117T>A (p.Cys373Ser)
c.1828T>A (p.Cys610Ser)
c.1054T>A (p.Cys352Ser)
c.1021T>A (p.Cys341Ser)
n.2055T>A
c.1234T>A (p.Cys412Ser)
n.2049T>A
Xg.53250845C>ACA516674069IQSEC2c.1890G>T (p.Gly630=)
c.1731G>T (p.Gly577=)
c.1701G>T (p.Gly567=)
c.1116G>T (p.Gly372=)
c.1827G>T (p.Gly609=)
c.1053G>T (p.Gly351=)
c.1020G>T (p.Gly340=)
n.2054G>T
c.1233G>T (p.Gly411=)
n.2048G>T
Xg.53250845C>GCA516674070IQSEC2c.1890G>C (p.Gly630=)
c.1731G>C (p.Gly577=)
c.1701G>C (p.Gly567=)
c.1116G>C (p.Gly372=)
c.1827G>C (p.Gly609=)
c.1053G>C (p.Gly351=)
c.1020G>C (p.Gly340=)
n.2054G>C
c.1233G>C (p.Gly411=)
n.2048G>C
Xg.53250845C>TCA516674071IQSEC2c.1890G>A (p.Gly630=)
c.1731G>A (p.Gly577=)
c.1701G>A (p.Gly567=)
c.1116G>A (p.Gly372=)
c.1827G>A (p.Gly609=)
c.1053G>A (p.Gly351=)
c.1020G>A (p.Gly340=)
n.2054G>A
c.1233G>A (p.Gly411=)
n.2048G>A
 ClinVar gnomAD v4
Xg.53250846C>ACA10420006IQSEC2c.1889G>T (p.Gly630Val)
c.1730G>T (p.Gly577Val)
c.1700G>T (p.Gly567Val)
c.1115G>T (p.Gly372Val)
c.1826G>T (p.Gly609Val)
c.1052G>T (p.Gly351Val)
c.1019G>T (p.Gly340Val)
n.2053G>T
c.1232G>T (p.Gly411Val)
n.2047G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250846C=CA2429775654IQSEC2c.1889G= (p.Gly630=)
c.1730G= (p.Gly577=)
c.1700G= (p.Gly567=)
c.1115G= (p.Gly372=)
c.1826G= (p.Gly609=)
c.1052G= (p.Gly351=)
c.1019G= (p.Gly340=)
n.2053G=
c.1232G= (p.Gly411=)
n.2047G=
Xg.53250846C>GCA413164162IQSEC2c.1889G>C (p.Gly630Ala)
c.1730G>C (p.Gly577Ala)
c.1700G>C (p.Gly567Ala)
c.1115G>C (p.Gly372Ala)
c.1826G>C (p.Gly609Ala)
c.1052G>C (p.Gly351Ala)
c.1019G>C (p.Gly340Ala)
n.2053G>C
c.1232G>C (p.Gly411Ala)
n.2047G>C
Xg.53250846C>TCA413164166IQSEC2c.1889G>A (p.Gly630Glu)
c.1730G>A (p.Gly577Glu)
c.1700G>A (p.Gly567Glu)
c.1115G>A (p.Gly372Glu)
c.1826G>A (p.Gly609Glu)
c.1052G>A (p.Gly351Glu)
c.1019G>A (p.Gly340Glu)
n.2053G>A
c.1232G>A (p.Gly411Glu)
n.2047G>A
 dbSNP
Xg.53250847C>ACA413164192IQSEC2c.1888G>T (p.Gly630Trp)
c.1729G>T (p.Gly577Trp)
c.1699G>T (p.Gly567Trp)
c.1114G>T (p.Gly372Trp)
c.1825G>T (p.Gly609Trp)
c.1051G>T (p.Gly351Trp)
c.1018G>T (p.Gly340Trp)
n.2052G>T
c.1231G>T (p.Gly411Trp)
n.2046G>T
 gnomAD v4
Xg.53250847C=CA2429775655IQSEC2c.1888G= (p.Gly630=)
c.1729G= (p.Gly577=)
c.1699G= (p.Gly567=)
c.1114G= (p.Gly372=)
c.1825G= (p.Gly609=)
c.1051G= (p.Gly351=)
c.1018G= (p.Gly340=)
n.2052G=
c.1231G= (p.Gly411=)
n.2046G=
Xg.53250847C>GCA413164195IQSEC2c.1888G>C (p.Gly630Arg)
c.1729G>C (p.Gly577Arg)
c.1699G>C (p.Gly567Arg)
c.1114G>C (p.Gly372Arg)
c.1825G>C (p.Gly609Arg)
c.1051G>C (p.Gly351Arg)
c.1018G>C (p.Gly340Arg)
n.2052G>C
c.1231G>C (p.Gly411Arg)
n.2046G>C
Xg.53250847C>TCA10420007IQSEC2c.1888G>A (p.Gly630Arg)
c.1729G>A (p.Gly577Arg)
c.1699G>A (p.Gly567Arg)
c.1114G>A (p.Gly372Arg)
c.1825G>A (p.Gly609Arg)
c.1051G>A (p.Gly351Arg)
c.1018G>A (p.Gly340Arg)
n.2052G>A
c.1231G>A (p.Gly411Arg)
n.2046G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250848G>ACA10420008IQSEC2c.1887C>T (p.Pro629=)
c.1728C>T (p.Pro576=)
c.1698C>T (p.Pro566=)
c.1113C>T (p.Pro371=)
c.1824C>T (p.Pro608=)
c.1050C>T (p.Pro350=)
c.1017C>T (p.Pro339=)
n.2051C>T
c.1230C>T (p.Pro410=)
n.2045C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250848G>CCA516674075IQSEC2c.1887C>G (p.Pro629=)
c.1728C>G (p.Pro576=)
c.1698C>G (p.Pro566=)
c.1113C>G (p.Pro371=)
c.1824C>G (p.Pro608=)
c.1050C>G (p.Pro350=)
c.1017C>G (p.Pro339=)
n.2051C>G
c.1230C>G (p.Pro410=)
n.2045C>G
Xg.53250848G=CA2429775656IQSEC2c.1887C= (p.Pro629=)
c.1728C= (p.Pro576=)
c.1698C= (p.Pro566=)
c.1113C= (p.Pro371=)
c.1824C= (p.Pro608=)
c.1050C= (p.Pro350=)
c.1017C= (p.Pro339=)
n.2051C=
c.1230C= (p.Pro410=)
n.2045C=
Xg.53250848G>TCA516674074IQSEC2c.1887C>A (p.Pro629=)
c.1728C>A (p.Pro576=)
c.1698C>A (p.Pro566=)
c.1113C>A (p.Pro371=)
c.1824C>A (p.Pro608=)
c.1050C>A (p.Pro350=)
c.1017C>A (p.Pro339=)
n.2051C>A
c.1230C>A (p.Pro410=)
n.2045C>A
 COSMIC COSMIC COSMIC
Xg.53250849G>ACA413164242IQSEC2c.1886C>T (p.Pro629Leu)
c.1727C>T (p.Pro576Leu)
c.1697C>T (p.Pro566Leu)
c.1112C>T (p.Pro371Leu)
c.1823C>T (p.Pro608Leu)
c.1049C>T (p.Pro350Leu)
c.1016C>T (p.Pro339Leu)
n.2050C>T
c.1229C>T (p.Pro410Leu)
n.2044C>T
 gnomAD v4
Xg.53250849G>CCA413164212IQSEC2c.1886C>G (p.Pro629Arg)
c.1727C>G (p.Pro576Arg)
c.1697C>G (p.Pro566Arg)
c.1112C>G (p.Pro371Arg)
c.1823C>G (p.Pro608Arg)
c.1049C>G (p.Pro350Arg)
c.1016C>G (p.Pro339Arg)
n.2050C>G
c.1229C>G (p.Pro410Arg)
n.2044C>G
Xg.53250849G>TCA413164239IQSEC2c.1886C>A (p.Pro629His)
c.1727C>A (p.Pro576His)
c.1697C>A (p.Pro566His)
c.1112C>A (p.Pro371His)
c.1823C>A (p.Pro608His)
c.1049C>A (p.Pro350His)
c.1016C>A (p.Pro339His)
n.2050C>A
c.1229C>A (p.Pro410His)
n.2044C>A
Xg.53250850G>ACA413164248IQSEC2c.1885C>T (p.Pro629Ser)
c.1726C>T (p.Pro576Ser)
c.1696C>T (p.Pro566Ser)
c.1111C>T (p.Pro371Ser)
c.1822C>T (p.Pro608Ser)
c.1048C>T (p.Pro350Ser)
c.1015C>T (p.Pro339Ser)
n.2049C>T
c.1228C>T (p.Pro410Ser)
n.2043C>T
 COSMIC COSMIC COSMIC
Xg.53250850G>CCA413164251IQSEC2c.1885C>G (p.Pro629Ala)
c.1726C>G (p.Pro576Ala)
c.1696C>G (p.Pro566Ala)
c.1111C>G (p.Pro371Ala)
c.1822C>G (p.Pro608Ala)
c.1048C>G (p.Pro350Ala)
c.1015C>G (p.Pro339Ala)
n.2049C>G
c.1228C>G (p.Pro410Ala)
n.2043C>G
 gnomAD v4
Xg.53250850G>TCA413164256IQSEC2c.1885C>A (p.Pro629Thr)
c.1726C>A (p.Pro576Thr)
c.1696C>A (p.Pro566Thr)
c.1111C>A (p.Pro371Thr)
c.1822C>A (p.Pro608Thr)
c.1048C>A (p.Pro350Thr)
c.1015C>A (p.Pro339Thr)
n.2049C>A
c.1228C>A (p.Pro410Thr)
n.2043C>A
Xg.53250851A>CCA516674077IQSEC2c.1884T>G (p.Gly628=)
c.1725T>G (p.Gly575=)
c.1695T>G (p.Gly565=)
c.1110T>G (p.Gly370=)
c.1821T>G (p.Gly607=)
c.1047T>G (p.Gly349=)
c.1014T>G (p.Gly338=)
n.2048T>G
c.1227T>G (p.Gly409=)
n.2042T>G
Xg.53250851A>GCA516674078IQSEC2c.1884T>C (p.Gly628=)
c.1725T>C (p.Gly575=)
c.1695T>C (p.Gly565=)
c.1110T>C (p.Gly370=)
c.1821T>C (p.Gly607=)
c.1047T>C (p.Gly349=)
c.1014T>C (p.Gly338=)
n.2048T>C
c.1227T>C (p.Gly409=)
n.2042T>C
 gnomAD v4
Xg.53250851A>TCA516674079IQSEC2c.1884T>A (p.Gly628=)
c.1725T>A (p.Gly575=)
c.1695T>A (p.Gly565=)
c.1110T>A (p.Gly370=)
c.1821T>A (p.Gly607=)
c.1047T>A (p.Gly349=)
c.1014T>A (p.Gly338=)
n.2048T>A
c.1227T>A (p.Gly409=)
n.2042T>A
Xg.53250852C>ACA413164264IQSEC2c.1883G>T (p.Gly628Val)
c.1724G>T (p.Gly575Val)
c.1694G>T (p.Gly565Val)
c.1109G>T (p.Gly370Val)
c.1820G>T (p.Gly607Val)
c.1046G>T (p.Gly349Val)
c.1013G>T (p.Gly338Val)
n.2047G>T
c.1226G>T (p.Gly409Val)
n.2041G>T
Xg.53250852C>GCA413164267IQSEC2c.1883G>C (p.Gly628Ala)
c.1724G>C (p.Gly575Ala)
c.1694G>C (p.Gly565Ala)
c.1109G>C (p.Gly370Ala)
c.1820G>C (p.Gly607Ala)
c.1046G>C (p.Gly349Ala)
c.1013G>C (p.Gly338Ala)
n.2047G>C
c.1226G>C (p.Gly409Ala)
n.2041G>C
Xg.53250852C>TCA413164271IQSEC2c.1883G>A (p.Gly628Asp)
c.1724G>A (p.Gly575Asp)
c.1694G>A (p.Gly565Asp)
c.1109G>A (p.Gly370Asp)
c.1820G>A (p.Gly607Asp)
c.1046G>A (p.Gly349Asp)
c.1013G>A (p.Gly338Asp)
n.2047G>A
c.1226G>A (p.Gly409Asp)
n.2041G>A
Xg.53250853C>ACA413164278IQSEC2c.1882G>T (p.Gly628Cys)
c.1723G>T (p.Gly575Cys)
c.1693G>T (p.Gly565Cys)
c.1108G>T (p.Gly370Cys)
c.1819G>T (p.Gly607Cys)
c.1045G>T (p.Gly349Cys)
c.1012G>T (p.Gly338Cys)
n.2046G>T
c.1225G>T (p.Gly409Cys)
n.2040G>T
Xg.53250853C>GCA413164282IQSEC2c.1882G>C (p.Gly628Arg)
c.1723G>C (p.Gly575Arg)
c.1693G>C (p.Gly565Arg)
c.1108G>C (p.Gly370Arg)
c.1819G>C (p.Gly607Arg)
c.1045G>C (p.Gly349Arg)
c.1012G>C (p.Gly338Arg)
n.2046G>C
c.1225G>C (p.Gly409Arg)
n.2040G>C
Xg.53250853C>TCA413164305IQSEC2c.1882G>A (p.Gly628Ser)
c.1723G>A (p.Gly575Ser)
c.1693G>A (p.Gly565Ser)
c.1108G>A (p.Gly370Ser)
c.1819G>A (p.Gly607Ser)
c.1045G>A (p.Gly349Ser)
c.1012G>A (p.Gly338Ser)
n.2046G>A
c.1225G>A (p.Gly409Ser)
n.2040G>A
Xg.53250854C>ACA413164310IQSEC2c.1881G>T (p.Arg627Ser)
c.1722G>T (p.Arg574Ser)
c.1692G>T (p.Arg564Ser)
c.1107G>T (p.Arg369Ser)
c.1818G>T (p.Arg606Ser)
c.1044G>T (p.Arg348Ser)
c.1011G>T (p.Arg337Ser)
n.2045G>T
c.1224G>T (p.Arg408Ser)
n.2039G>T
Xg.53250854C>GCA413164314IQSEC2c.1881G>C (p.Arg627Ser)
c.1722G>C (p.Arg574Ser)
c.1692G>C (p.Arg564Ser)
c.1107G>C (p.Arg369Ser)
c.1818G>C (p.Arg606Ser)
c.1044G>C (p.Arg348Ser)
c.1011G>C (p.Arg337Ser)
n.2045G>C
c.1224G>C (p.Arg408Ser)
n.2039G>C
Xg.53250854C>TCA516674081IQSEC2c.1881G>A (p.Arg627=)
c.1722G>A (p.Arg574=)
c.1692G>A (p.Arg564=)
c.1107G>A (p.Arg369=)
c.1818G>A (p.Arg606=)
c.1044G>A (p.Arg348=)
c.1011G>A (p.Arg337=)
n.2045G>A
c.1224G>A (p.Arg408=)
n.2039G>A
Xg.53250855C>ACA413164328IQSEC2c.1880G>T (p.Arg627Met)
c.1721G>T (p.Arg574Met)
c.1691G>T (p.Arg564Met)
c.1106G>T (p.Arg369Met)
c.1817G>T (p.Arg606Met)
c.1043G>T (p.Arg348Met)
c.1010G>T (p.Arg337Met)
n.2044G>T
c.1223G>T (p.Arg408Met)
n.2038G>T
Xg.53250855C=CA2429775657IQSEC2c.1880G= (p.Arg627=)
c.1721G= (p.Arg574=)
c.1691G= (p.Arg564=)
c.1106G= (p.Arg369=)
c.1817G= (p.Arg606=)
c.1043G= (p.Arg348=)
c.1010G= (p.Arg337=)
n.2044G=
c.1223G= (p.Arg408=)
n.2038G=
Xg.53250855C>GCA413164323IQSEC2c.1880G>C (p.Arg627Thr)
c.1721G>C (p.Arg574Thr)
c.1691G>C (p.Arg564Thr)
c.1106G>C (p.Arg369Thr)
c.1817G>C (p.Arg606Thr)
c.1043G>C (p.Arg348Thr)
c.1010G>C (p.Arg337Thr)
n.2044G>C
c.1223G>C (p.Arg408Thr)
n.2038G>C
Xg.53250855C>TCA413164319IQSEC2c.1880G>A (p.Arg627Lys)
c.1721G>A (p.Arg574Lys)
c.1691G>A (p.Arg564Lys)
c.1106G>A (p.Arg369Lys)
c.1817G>A (p.Arg606Lys)
c.1043G>A (p.Arg348Lys)
c.1010G>A (p.Arg337Lys)
n.2044G>A
c.1223G>A (p.Arg408Lys)
n.2038G>A
 ClinVar dbSNP gnomAD v4
Xg.53250856T>ACA413164337IQSEC2c.1879A>T (p.Arg627Trp)
c.1720A>T (p.Arg574Trp)
c.1690A>T (p.Arg564Trp)
c.1105A>T (p.Arg369Trp)
c.1816A>T (p.Arg606Trp)
c.1042A>T (p.Arg348Trp)
c.1009A>T (p.Arg337Trp)
n.2043A>T
c.1222A>T (p.Arg408Trp)
n.2037A>T
Xg.53250856T>CCA413164339IQSEC2c.1879A>G (p.Arg627Gly)
c.1720A>G (p.Arg574Gly)
c.1690A>G (p.Arg564Gly)
c.1105A>G (p.Arg369Gly)
c.1816A>G (p.Arg606Gly)
c.1042A>G (p.Arg348Gly)
c.1009A>G (p.Arg337Gly)
n.2043A>G
c.1222A>G (p.Arg408Gly)
n.2037A>G
Xg.53250856T>GCA516674085IQSEC2c.1879A>C (p.Arg627=)
c.1720A>C (p.Arg574=)
c.1690A>C (p.Arg564=)
c.1105A>C (p.Arg369=)
c.1816A>C (p.Arg606=)
c.1042A>C (p.Arg348=)
c.1009A>C (p.Arg337=)
n.2043A>C
c.1222A>C (p.Arg408=)
n.2037A>C
Xg.53250857G>ACA516674086IQSEC2c.1878C>T (p.Arg626=)
c.1719C>T (p.Arg573=)
c.1689C>T (p.Arg563=)
c.1104C>T (p.Arg368=)
c.1815C>T (p.Arg605=)
c.1041C>T (p.Arg347=)
c.1008C>T (p.Arg336=)
n.2042C>T
c.1221C>T (p.Arg407=)
n.2036C>T
Xg.53250857G>CCA516674087IQSEC2c.1878C>G (p.Arg626=)
c.1719C>G (p.Arg573=)
c.1689C>G (p.Arg563=)
c.1104C>G (p.Arg368=)
c.1815C>G (p.Arg605=)
c.1041C>G (p.Arg347=)
c.1008C>G (p.Arg336=)
n.2042C>G
c.1221C>G (p.Arg407=)
n.2036C>G
Xg.53250857G>TCA516674088IQSEC2c.1878C>A (p.Arg626=)
c.1719C>A (p.Arg573=)
c.1689C>A (p.Arg563=)
c.1104C>A (p.Arg368=)
c.1815C>A (p.Arg605=)
c.1041C>A (p.Arg347=)
c.1008C>A (p.Arg336=)
n.2042C>A
c.1221C>A (p.Arg407=)
n.2036C>A
Xg.53250858C>ACA413164343IQSEC2c.1877G>T (p.Arg626Leu)
c.1718G>T (p.Arg573Leu)
c.1688G>T (p.Arg563Leu)
c.1103G>T (p.Arg368Leu)
c.1814G>T (p.Arg605Leu)
c.1040G>T (p.Arg347Leu)
c.1007G>T (p.Arg336Leu)
n.2041G>T
c.1220G>T (p.Arg407Leu)
n.2035G>T
Xg.53250858C=CA2429775658IQSEC2c.1877G= (p.Arg626=)
c.1718G= (p.Arg573=)
c.1688G= (p.Arg563=)
c.1103G= (p.Arg368=)
c.1814G= (p.Arg605=)
c.1040G= (p.Arg347=)
c.1007G= (p.Arg336=)
n.2041G=
c.1220G= (p.Arg407=)
n.2035G=
Xg.53250858C>GCA413164345IQSEC2c.1877G>C (p.Arg626Pro)
c.1718G>C (p.Arg573Pro)
c.1688G>C (p.Arg563Pro)
c.1103G>C (p.Arg368Pro)
c.1814G>C (p.Arg605Pro)
c.1040G>C (p.Arg347Pro)
c.1007G>C (p.Arg336Pro)
n.2041G>C
c.1220G>C (p.Arg407Pro)
n.2035G>C
Xg.53250858C>TCA413164346IQSEC2c.1877G>A (p.Arg626His)
c.1718G>A (p.Arg573His)
c.1688G>A (p.Arg563His)
c.1103G>A (p.Arg368His)
c.1814G>A (p.Arg605His)
c.1040G>A (p.Arg347His)
c.1007G>A (p.Arg336His)
n.2041G>A
c.1220G>A (p.Arg407His)
n.2035G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53250859G>ACA413164347IQSEC2c.1876C>T (p.Arg626Cys)
c.1717C>T (p.Arg573Cys)
c.1687C>T (p.Arg563Cys)
c.1102C>T (p.Arg368Cys)
c.1813C>T (p.Arg605Cys)
c.1039C>T (p.Arg347Cys)
c.1006C>T (p.Arg336Cys)
n.2040C>T
c.1219C>T (p.Arg407Cys)
n.2034C>T
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250859G>CCA413164349IQSEC2c.1876C>G (p.Arg626Gly)
c.1717C>G (p.Arg573Gly)
c.1687C>G (p.Arg563Gly)
c.1102C>G (p.Arg368Gly)
c.1813C>G (p.Arg605Gly)
c.1039C>G (p.Arg347Gly)
c.1006C>G (p.Arg336Gly)
n.2040C>G
c.1219C>G (p.Arg407Gly)
n.2034C>G
Xg.53250859G>TCA413164351IQSEC2c.1876C>A (p.Arg626Ser)
c.1717C>A (p.Arg573Ser)
c.1687C>A (p.Arg563Ser)
c.1102C>A (p.Arg368Ser)
c.1813C>A (p.Arg605Ser)
c.1039C>A (p.Arg347Ser)
c.1006C>A (p.Arg336Ser)
n.2040C>A
c.1219C>A (p.Arg407Ser)
n.2034C>A
Xg.53250860A>CCA516674094IQSEC2c.1875T>G (p.Thr625=)
c.1716T>G (p.Thr572=)
c.1686T>G (p.Thr562=)
c.1101T>G (p.Thr367=)
c.1812T>G (p.Thr604=)
c.1038T>G (p.Thr346=)
c.1005T>G (p.Thr335=)
n.2039T>G
c.1218T>G (p.Thr406=)
n.2033T>G
Xg.53250860A>GCA516674092IQSEC2c.1875T>C (p.Thr625=)
c.1716T>C (p.Thr572=)
c.1686T>C (p.Thr562=)
c.1101T>C (p.Thr367=)
c.1812T>C (p.Thr604=)
c.1038T>C (p.Thr346=)
c.1005T>C (p.Thr335=)
n.2039T>C
c.1218T>C (p.Thr406=)
n.2033T>C
Xg.53250860A>TCA516674093IQSEC2c.1875T>A (p.Thr625=)
c.1716T>A (p.Thr572=)
c.1686T>A (p.Thr562=)
c.1101T>A (p.Thr367=)
c.1812T>A (p.Thr604=)
c.1038T>A (p.Thr346=)
c.1005T>A (p.Thr335=)
n.2039T>A
c.1218T>A (p.Thr406=)
n.2033T>A
Xg.53250861G>ACA413164354IQSEC2c.1874C>T (p.Thr625Ile)
c.1715C>T (p.Thr572Ile)
c.1685C>T (p.Thr562Ile)
c.1100C>T (p.Thr367Ile)
c.1811C>T (p.Thr604Ile)
c.1037C>T (p.Thr346Ile)
c.1004C>T (p.Thr335Ile)
n.2038C>T
c.1217C>T (p.Thr406Ile)
n.2032C>T
 gnomAD v4
Xg.53250861G>CCA413164357IQSEC2c.1874C>G (p.Thr625Ser)
c.1715C>G (p.Thr572Ser)
c.1685C>G (p.Thr562Ser)
c.1100C>G (p.Thr367Ser)
c.1811C>G (p.Thr604Ser)
c.1037C>G (p.Thr346Ser)
c.1004C>G (p.Thr335Ser)
n.2038C>G
c.1217C>G (p.Thr406Ser)
n.2032C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53250861G=CA2429775659IQSEC2c.1874C= (p.Thr625=)
c.1715C= (p.Thr572=)
c.1685C= (p.Thr562=)
c.1100C= (p.Thr367=)
c.1811C= (p.Thr604=)
c.1037C= (p.Thr346=)
c.1004C= (p.Thr335=)
n.2038C=
c.1217C= (p.Thr406=)
n.2032C=
Xg.53250861G>TCA413164360IQSEC2c.1874C>A (p.Thr625Asn)
c.1715C>A (p.Thr572Asn)
c.1685C>A (p.Thr562Asn)
c.1100C>A (p.Thr367Asn)
c.1811C>A (p.Thr604Asn)
c.1037C>A (p.Thr346Asn)
c.1004C>A (p.Thr335Asn)
n.2038C>A
c.1217C>A (p.Thr406Asn)
n.2032C>A

Number of alleles fetched