Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.54609276T>ACA340440664ACOT11,FAM151Ac.1750A>T (p.Arg584Ter)
c.*164T>A (n.*164T>A)
c.1189A>T (p.Arg397Ter)
c.1629+1208T>A (n.1629+1208T>A)
n.2027T>A
c.1672A>T (p.Arg558Ter)
1g.54609276T>CCA340440662ACOT11,FAM151Ac.1750A>G (p.Arg584Gly)
c.*164T>C (n.*164T>C)
c.1189A>G (p.Arg397Gly)
c.1629+1208T>C (n.1629+1208T>C)
n.2027T>C
c.1672A>G (p.Arg558Gly)
gnomAD v4
1g.54609276T>GCA418177212ACOT11,FAM151Ac.1750A>C (p.Arg584=)
c.*164T>G (n.*164T>G)
c.1189A>C (p.Arg397=)
c.1629+1208T>G (n.1629+1208T>G)
n.2027T>G
c.1672A>C (p.Arg558=)
1g.54609277A=CA1167798409ACOT11,FAM151Ac.1749T= (p.Gly583=)
c.*165A= (n.*165A=)
c.1188T= (p.Gly396=)
c.1629+1209A= (n.1629+1209A=)
n.2028A=
c.1671T= (p.Gly557=)
1g.54609277A>CCA418177215ACOT11,FAM151Ac.1749T>G (p.Gly583=)
c.*165A>C (n.*165A>C)
c.1188T>G (p.Gly396=)
c.1629+1209A>C (n.1629+1209A>C)
n.2028A>C
c.1671T>G (p.Gly557=)
1g.54609277A>GCA418177214ACOT11,FAM151Ac.1749T>C (p.Gly583=)
c.*165A>G (n.*165A>G)
c.1188T>C (p.Gly396=)
c.1629+1209A>G (n.1629+1209A>G)
n.2028A>G
c.1671T>C (p.Gly557=)
dbSNP gnomAD v3 gnomAD v4
1g.54609277A>TCA418177213ACOT11,FAM151Ac.1749T>A (p.Gly583=)
c.*165A>T (n.*165A>T)
c.1188T>A (p.Gly396=)
c.1629+1209A>T (n.1629+1209A>T)
n.2028A>T
c.1671T>A (p.Gly557=)
1g.54609278C>ACA340440665ACOT11,FAM151Ac.1748G>T (p.Gly583Val)
c.*166C>A (n.*166C>A)
c.1187G>T (p.Gly396Val)
c.1629+1210C>A (n.1629+1210C>A)
n.2029C>A
c.1670G>T (p.Gly557Val)
gnomAD v4
1g.54609278C>GCA340440668ACOT11,FAM151Ac.1748G>C (p.Gly583Ala)
c.*166C>G (n.*166C>G)
c.1187G>C (p.Gly396Ala)
c.1629+1210C>G (n.1629+1210C>G)
n.2029C>G
c.1670G>C (p.Gly557Ala)
1g.54609278C>TCA340440669ACOT11,FAM151Ac.1748G>A (p.Gly583Asp)
c.*166C>T (n.*166C>T)
c.1187G>A (p.Gly396Asp)
c.1629+1210C>T (n.1629+1210C>T)
n.2029C>T
c.1670G>A (p.Gly557Asp)
1g.54609279C>ACA340440671ACOT11,FAM151Ac.1747G>T (p.Gly583Cys)
c.*167C>A (n.*167C>A)
c.1186G>T (p.Gly396Cys)
c.1629+1211C>A (n.1629+1211C>A)
n.2030C>A
c.1669G>T (p.Gly557Cys)
gnomAD v4
1g.54609279C>GCA340440673ACOT11,FAM151Ac.1747G>C (p.Gly583Arg)
c.*167C>G (n.*167C>G)
c.1186G>C (p.Gly396Arg)
c.1629+1211C>G (n.1629+1211C>G)
n.2030C>G
c.1669G>C (p.Gly557Arg)
1g.54609279C>TCA340440674ACOT11,FAM151Ac.1747G>A (p.Gly583Ser)
c.*167C>T (n.*167C>T)
c.1186G>A (p.Gly396Ser)
c.1629+1211C>T (n.1629+1211C>T)
n.2030C>T
c.1669G>A (p.Gly557Ser)
gnomAD v4
1g.54609280A>CCA418177216ACOT11,FAM151Ac.1746T>G (p.Val582=)
c.*168A>C (n.*168A>C)
c.1185T>G (p.Val395=)
c.1629+1212A>C (n.1629+1212A>C)
n.2031A>C
c.1668T>G (p.Val556=)
1g.54609280A>GCA418177217ACOT11,FAM151Ac.1746T>C (p.Val582=)
c.*168A>G (n.*168A>G)
c.1185T>C (p.Val395=)
c.1629+1212A>G (n.1629+1212A>G)
n.2031A>G
c.1668T>C (p.Val556=)
1g.54609280A>TCA418177218ACOT11,FAM151Ac.1746T>A (p.Val582=)
c.*168A>T (n.*168A>T)
c.1185T>A (p.Val395=)
c.1629+1212A>T (n.1629+1212A>T)
n.2031A>T
c.1668T>A (p.Val556=)
1g.54609281A>CCA340440679ACOT11,FAM151Ac.1745T>G (p.Val582Gly)
c.*169A>C (n.*169A>C)
c.1184T>G (p.Val395Gly)
c.1629+1213A>C (n.1629+1213A>C)
n.2032A>C
c.1667T>G (p.Val556Gly)
1g.54609281A>GCA340440675ACOT11,FAM151Ac.1745T>C (p.Val582Ala)
c.*169A>G (n.*169A>G)
c.1184T>C (p.Val395Ala)
c.1629+1213A>G (n.1629+1213A>G)
n.2032A>G
c.1667T>C (p.Val556Ala)
gnomAD v4
1g.54609281A>TCA340440676ACOT11,FAM151Ac.1745T>A (p.Val582Asp)
c.*169A>T (n.*169A>T)
c.1184T>A (p.Val395Asp)
c.1629+1213A>T (n.1629+1213A>T)
n.2032A>T
c.1667T>A (p.Val556Asp)
1g.54609282C>ACA340440682ACOT11,FAM151Ac.1744G>T (p.Val582Phe)
c.*170C>A (n.*170C>A)
c.1183G>T (p.Val395Phe)
c.1629+1214C>A (n.1629+1214C>A)
n.2033C>A
c.1666G>T (p.Val556Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.54609282C=CA1167798410ACOT11,FAM151Ac.1744G= (p.Val582=)
c.*170C= (n.*170C=)
c.1183G= (p.Val395=)
c.1629+1214C= (n.1629+1214C=)
n.2033C=
c.1666G= (p.Val556=)
1g.54609282C>GCA340440684ACOT11,FAM151Ac.1744G>C (p.Val582Leu)
c.*170C>G (n.*170C>G)
c.1183G>C (p.Val395Leu)
c.1629+1214C>G (n.1629+1214C>G)
n.2033C>G
c.1666G>C (p.Val556Leu)
1g.54609282C>TCA866828ACOT11,FAM151Ac.1744G>A (p.Val582Ile)
c.*170C>T (n.*170C>T)
c.1183G>A (p.Val395Ile)
c.1629+1214C>T (n.1629+1214C>T)
n.2033C>T
c.1666G>A (p.Val556Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609283A=CA1167798411ACOT11,FAM151Ac.1743T= (p.His581=)
c.*171A= (n.*171A=)
c.1182T= (p.His394=)
c.1629+1215A= (n.1629+1215A=)
n.2034A=
c.1665T= (p.His555=)
1g.54609283A>CCA340440688ACOT11,FAM151Ac.1743T>G (p.His581Gln)
c.*171A>C (n.*171A>C)
c.1182T>G (p.His394Gln)
c.1629+1215A>C (n.1629+1215A>C)
n.2034A>C
c.1665T>G (p.His555Gln)
1g.54609283A>GCA418177219ACOT11,FAM151Ac.1743T>C (p.His581=)
c.*171A>G (n.*171A>G)
c.1182T>C (p.His394=)
c.1629+1215A>G (n.1629+1215A>G)
n.2034A>G
c.1665T>C (p.His555=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.54609283A>TCA340440690ACOT11,FAM151Ac.1743T>A (p.His581Gln)
c.*171A>T (n.*171A>T)
c.1182T>A (p.His394Gln)
c.1629+1215A>T (n.1629+1215A>T)
n.2034A>T
c.1665T>A (p.His555Gln)
1g.54609284T>ACA340440693ACOT11,FAM151Ac.1742A>T (p.His581Leu)
c.*172T>A (n.*172T>A)
c.1181A>T (p.His394Leu)
c.1629+1216T>A (n.1629+1216T>A)
n.2035T>A
c.1664A>T (p.His555Leu)
1g.54609284T>CCA340440700ACOT11,FAM151Ac.1742A>G (p.His581Arg)
c.*172T>C (n.*172T>C)
c.1181A>G (p.His394Arg)
c.1629+1216T>C (n.1629+1216T>C)
n.2035T>C
c.1664A>G (p.His555Arg)
1g.54609284T>GCA340440698ACOT11,FAM151Ac.1742A>C (p.His581Pro)
c.*172T>G (n.*172T>G)
c.1181A>C (p.His394Pro)
c.1629+1216T>G (n.1629+1216T>G)
n.2035T>G
c.1664A>C (p.His555Pro)
1g.54609285G>ACA22715334ACOT11,FAM151Ac.1741C>T (p.His581Tyr)
c.*173G>A (n.*173G>A)
c.1180C>T (p.His394Tyr)
c.1629+1217G>A (n.1629+1217G>A)
n.2036G>A
c.1663C>T (p.His555Tyr)
dbSNP gnomAD v4
1g.54609285G>CCA340440704ACOT11,FAM151Ac.1741C>G (p.His581Asp)
c.*173G>C (n.*173G>C)
c.1180C>G (p.His394Asp)
c.1629+1217G>C (n.1629+1217G>C)
n.2036G>C
c.1663C>G (p.His555Asp)
dbSNP
1g.54609285G=CA1167798412ACOT11,FAM151Ac.1741C= (p.His581=)
c.*173G= (n.*173G=)
c.1180C= (p.His394=)
c.1629+1217G= (n.1629+1217G=)
n.2036G=
c.1663C= (p.His555=)
1g.54609285G>TCA340440702ACOT11,FAM151Ac.1741C>A (p.His581Asn)
c.*173G>T (n.*173G>T)
c.1180C>A (p.His394Asn)
c.1629+1217G>T (n.1629+1217G>T)
n.2036G>T
c.1663C>A (p.His555Asn)
1g.54609286A>CCA418177220ACOT11,FAM151Ac.1740T>G (p.Ala580=)
c.*174A>C (n.*174A>C)
c.1179T>G (p.Ala393=)
c.1629+1218A>C (n.1629+1218A>C)
n.2037A>C
c.1662T>G (p.Ala554=)
1g.54609286A>GCA418177221ACOT11,FAM151Ac.1740T>C (p.Ala580=)
c.*174A>G (n.*174A>G)
c.1179T>C (p.Ala393=)
c.1629+1218A>G (n.1629+1218A>G)
n.2037A>G
c.1662T>C (p.Ala554=)
1g.54609286A>TCA418177222ACOT11,FAM151Ac.1740T>A (p.Ala580=)
c.*174A>T (n.*174A>T)
c.1179T>A (p.Ala393=)
c.1629+1218A>T (n.1629+1218A>T)
n.2037A>T
c.1662T>A (p.Ala554=)
1g.54609287G>ACA340440706ACOT11,FAM151Ac.1739C>T (p.Ala580Val)
c.*175G>A (n.*175G>A)
c.1178C>T (p.Ala393Val)
c.1629+1219G>A (n.1629+1219G>A)
n.2038G>A
c.1661C>T (p.Ala554Val)
1g.54609287G>CCA340440709ACOT11,FAM151Ac.1739C>G (p.Ala580Gly)
c.*175G>C (n.*175G>C)
c.1178C>G (p.Ala393Gly)
c.1629+1219G>C (n.1629+1219G>C)
n.2038G>C
c.1661C>G (p.Ala554Gly)
1g.54609287G>TCA340440707ACOT11,FAM151Ac.1739C>A (p.Ala580Asp)
c.*175G>T (n.*175G>T)
c.1178C>A (p.Ala393Asp)
c.1629+1219G>T (n.1629+1219G>T)
n.2038G>T
c.1661C>A (p.Ala554Asp)
1g.54609288C>ACA340440711ACOT11,FAM151Ac.1738G>T (p.Ala580Ser)
c.*176C>A (n.*176C>A)
c.1177G>T (p.Ala393Ser)
c.1629+1220C>A (n.1629+1220C>A)
n.2039C>A
c.1660G>T (p.Ala554Ser)
1g.54609288C=CA1167798413ACOT11,FAM151Ac.1738G= (p.Ala580=)
c.*176C= (n.*176C=)
c.1177G= (p.Ala393=)
c.1629+1220C= (n.1629+1220C=)
n.2039C=
c.1660G= (p.Ala554=)
1g.54609288C>GCA340440713ACOT11,FAM151Ac.1738G>C (p.Ala580Pro)
c.*176C>G (n.*176C>G)
c.1177G>C (p.Ala393Pro)
c.1629+1220C>G (n.1629+1220C>G)
n.2039C>G
c.1660G>C (p.Ala554Pro)
1g.54609288C>TCA866829ACOT11,FAM151Ac.1738G>A (p.Ala580Thr)
c.*176C>T (n.*176C>T)
c.1177G>A (p.Ala393Thr)
c.1629+1220C>T (n.1629+1220C>T)
n.2039C>T
c.1660G>A (p.Ala554Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609289C>ACA866830ACOT11,FAM151Ac.1737G>T (p.Leu579=)
c.*177C>A (n.*177C>A)
c.1176G>T (p.Leu392=)
c.1629+1221C>A (n.1629+1221C>A)
n.2040C>A
c.1659G>T (p.Leu553=)
dbSNP ExAC gnomAD v2
1g.54609289C=CA1167798414ACOT11,FAM151Ac.1737G= (p.Leu579=)
c.*177C= (n.*177C=)
c.1176G= (p.Leu392=)
c.1629+1221C= (n.1629+1221C=)
n.2040C=
c.1659G= (p.Leu553=)
1g.54609289C>GCA418177223ACOT11,FAM151Ac.1737G>C (p.Leu579=)
c.*177C>G (n.*177C>G)
c.1176G>C (p.Leu392=)
c.1629+1221C>G (n.1629+1221C>G)
n.2040C>G
c.1659G>C (p.Leu553=)
1g.54609289C>TCA418177224ACOT11,FAM151Ac.1737G>A (p.Leu579=)
c.*177C>T (n.*177C>T)
c.1176G>A (p.Leu392=)
c.1629+1221C>T (n.1629+1221C>T)
n.2040C>T
c.1659G>A (p.Leu553=)
gnomAD v4
1g.54609290A>CCA340440717ACOT11,FAM151Ac.1736T>G (p.Leu579Arg)
c.*178A>C (n.*178A>C)
c.1175T>G (p.Leu392Arg)
c.1629+1222A>C (n.1629+1222A>C)
n.2041A>C
c.1658T>G (p.Leu553Arg)
1g.54609290A>GCA340440718ACOT11,FAM151Ac.1736T>C (p.Leu579Pro)
c.*178A>G (n.*178A>G)
c.1175T>C (p.Leu392Pro)
c.1629+1222A>G (n.1629+1222A>G)
n.2041A>G
c.1658T>C (p.Leu553Pro)
1g.54609290A>TCA340440721ACOT11,FAM151Ac.1736T>A (p.Leu579Gln)
c.*178A>T (n.*178A>T)
c.1175T>A (p.Leu392Gln)
c.1629+1222A>T (n.1629+1222A>T)
n.2041A>T
c.1658T>A (p.Leu553Gln)
1g.54609291G>ACA418177225ACOT11,FAM151Ac.1735C>T (p.Leu579=)
c.*179G>A (n.*179G>A)
c.1174C>T (p.Leu392=)
c.1629+1223G>A (n.1629+1223G>A)
n.2042G>A
c.1657C>T (p.Leu553=)
1g.54609291G>CCA340440724ACOT11,FAM151Ac.1735C>G (p.Leu579Val)
c.*179G>C (n.*179G>C)
c.1174C>G (p.Leu392Val)
c.1629+1223G>C (n.1629+1223G>C)
n.2042G>C
c.1657C>G (p.Leu553Val)
1g.54609291G>TCA340440725ACOT11,FAM151Ac.1735C>A (p.Leu579Met)
c.*179G>T (n.*179G>T)
c.1174C>A (p.Leu392Met)
c.1629+1223G>T (n.1629+1223G>T)
n.2042G>T
c.1657C>A (p.Leu553Met)
1g.54609292C>ACA340440726ACOT11,FAM151Ac.1734G>T (p.Leu578Phe)
c.*180C>A (n.*180C>A)
c.1173G>T (p.Leu391Phe)
c.1629+1224C>A (n.1629+1224C>A)
n.2043C>A
c.1656G>T (p.Leu552Phe)
1g.54609292C=CA1167798415ACOT11,FAM151Ac.1734G= (p.Leu578=)
c.*180C= (n.*180C=)
c.1173G= (p.Leu391=)
c.1629+1224C= (n.1629+1224C=)
n.2043C=
c.1656G= (p.Leu552=)
1g.54609292C>GCA340440727ACOT11,FAM151Ac.1734G>C (p.Leu578Phe)
c.*180C>G (n.*180C>G)
c.1173G>C (p.Leu391Phe)
c.1629+1224C>G (n.1629+1224C>G)
n.2043C>G
c.1656G>C (p.Leu552Phe)
1g.54609292C>TCA866831ACOT11,FAM151Ac.1734G>A (p.Leu578=)
c.*180C>T (n.*180C>T)
c.1173G>A (p.Leu391=)
c.1629+1224C>T (n.1629+1224C>T)
n.2043C>T
c.1656G>A (p.Leu552=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609293A>CCA340440728ACOT11,FAM151Ac.1733T>G (p.Leu578Trp)
c.*181A>C (n.*181A>C)
c.1172T>G (p.Leu391Trp)
c.1629+1225A>C (n.1629+1225A>C)
n.2044A>C
c.1655T>G (p.Leu552Trp)
1g.54609293A>GCA340440730ACOT11,FAM151Ac.1733T>C (p.Leu578Ser)
c.*181A>G (n.*181A>G)
c.1172T>C (p.Leu391Ser)
c.1629+1225A>G (n.1629+1225A>G)
n.2044A>G
c.1655T>C (p.Leu552Ser)
1g.54609293A>TCA340440729ACOT11,FAM151Ac.1733T>A (p.Leu578Ter)
c.*181A>T (n.*181A>T)
c.1172T>A (p.Leu391Ter)
c.1629+1225A>T (n.1629+1225A>T)
n.2044A>T
c.1655T>A (p.Leu552Ter)
1g.54609294A=CA1143425286ACOT11,FAM151Ac.1732T= (p.Leu578=)
c.*182A= (n.*182A=)
c.1171T= (p.Leu391=)
c.1629+1226A= (n.1629+1226A=)
n.2045A=
c.1654T= (p.Leu552=)
1g.54609294A>CCA866832ACOT11,FAM151Ac.1732T>G (p.Leu578Val)
c.*182A>C (n.*182A>C)
c.1171T>G (p.Leu391Val)
c.1629+1226A>C (n.1629+1226A>C)
n.2045A>C
c.1654T>G (p.Leu552Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609294A>GCA418177226ACOT11,FAM151Ac.1732T>C (p.Leu578=)
c.*182A>G (n.*182A>G)
c.1171T>C (p.Leu391=)
c.1629+1226A>G (n.1629+1226A>G)
n.2045A>G
c.1654T>C (p.Leu552=)
1g.54609294A>TCA340440732ACOT11,FAM151Ac.1732T>A (p.Leu578Met)
c.*182A>T (n.*182A>T)
c.1171T>A (p.Leu391Met)
c.1629+1226A>T (n.1629+1226A>T)
n.2045A>T
c.1654T>A (p.Leu552Met)
1g.54609295G>ACA418177227ACOT11,FAM151Ac.1731C>T (p.Asp577=)
c.*183G>A (n.*183G>A)
c.1170C>T (p.Asp390=)
c.1629+1227G>A (n.1629+1227G>A)
n.2046G>A
c.1653C>T (p.Asp551=)
dbSNP gnomAD v4
1g.54609295G>CCA340440734ACOT11,FAM151Ac.1731C>G (p.Asp577Glu)
c.*183G>C (n.*183G>C)
c.1170C>G (p.Asp390Glu)
c.1629+1227G>C (n.1629+1227G>C)
n.2046G>C
c.1653C>G (p.Asp551Glu)
COSMIC
1g.54609295G=CA1167798416ACOT11,FAM151Ac.1731C= (p.Asp577=)
c.*183G= (n.*183G=)
c.1170C= (p.Asp390=)
c.1629+1227G= (n.1629+1227G=)
n.2046G=
c.1653C= (p.Asp551=)
1g.54609295G>TCA340440736ACOT11,FAM151Ac.1731C>A (p.Asp577Glu)
c.*183G>T (n.*183G>T)
c.1170C>A (p.Asp390Glu)
c.1629+1227G>T (n.1629+1227G>T)
n.2046G>T
c.1653C>A (p.Asp551Glu)
1g.54609296T>ACA340440740ACOT11,FAM151Ac.1730A>T (p.Asp577Val)
c.*184T>A (n.*184T>A)
c.1169A>T (p.Asp390Val)
c.1629+1228T>A (n.1629+1228T>A)
n.2047T>A
c.1652A>T (p.Asp551Val)
1g.54609296T>CCA340440741ACOT11,FAM151Ac.1730A>G (p.Asp577Gly)
c.*184T>C (n.*184T>C)
c.1169A>G (p.Asp390Gly)
c.1629+1228T>C (n.1629+1228T>C)
n.2047T>C
c.1652A>G (p.Asp551Gly)
gnomAD v4
1g.54609296T>GCA340440743ACOT11,FAM151Ac.1730A>C (p.Asp577Ala)
c.*184T>G (n.*184T>G)
c.1169A>C (p.Asp390Ala)
c.1629+1228T>G (n.1629+1228T>G)
n.2047T>G
c.1652A>C (p.Asp551Ala)
1g.54609296_54609297delinsTCCA1167798417ACOT11,FAM151Ac.1729_1730delinsGA (p.Asp577=)
c.*184_*185delinsTC (n.*184_*185delinsTC)
c.1168_1169delinsGA (p.Asp390=)
c.1629+1228_1629+1229delinsTC (n.1629+1228_1629+1229delinsTC)
n.2047_2048delinsTC
c.1651_1652delinsGA (p.Asp551=)
1g.54609297C>ACA340440745ACOT11,FAM151Ac.1729G>T (p.Asp577Tyr)
c.*185C>A (n.*185C>A)
c.1168G>T (p.Asp390Tyr)
c.1629+1229C>A (n.1629+1229C>A)
n.2048C>A
c.1651G>T (p.Asp551Tyr)
1g.54609297C=CA1167798418ACOT11,FAM151Ac.1729G= (p.Asp577=)
c.*185C= (n.*185C=)
c.1168G= (p.Asp390=)
c.1629+1229C= (n.1629+1229C=)
n.2048C=
c.1651G= (p.Asp551=)
1g.54609297C>GCA340440748ACOT11,FAM151Ac.1729G>C (p.Asp577His)
c.*185C>G (n.*185C>G)
c.1168G>C (p.Asp390His)
c.1629+1229C>G (n.1629+1229C>G)
n.2048C>G
c.1651G>C (p.Asp551His)
1g.54609297C>TCA22715347ACOT11,FAM151Ac.1729G>A (p.Asp577Asn)
c.*185C>T (n.*185C>T)
c.1168G>A (p.Asp390Asn)
c.1629+1229C>T (n.1629+1229C>T)
n.2048C>T
c.1651G>A (p.Asp551Asn)
dbSNP gnomAD v2 gnomAD v4
1g.54609298delCA1001886534ACOT11,FAM151Ac.1729del (p.Asp577ThrfsTer?)
c.*186del (n.*186del)
c.1168del (p.Asp390ThrfsTer?)
c.1629+1230del (n.1629+1230del)
n.2049del
c.1651del (p.Asp551ThrfsTer?)
dbSNP gnomAD v3 gnomAD v4
1g.54609298C>ACA340440758ACOT11,FAM151Ac.1728G>T (p.Lys576Asn)
c.*186C>A (n.*186C>A)
c.1167G>T (p.Lys389Asn)
c.1629+1230C>A (n.1629+1230C>A)
n.2049C>A
c.1650G>T (p.Lys550Asn)
1g.54609298C=CA1167798419ACOT11,FAM151Ac.1728G= (p.Lys576=)
c.*186C= (n.*186C=)
c.1167G= (p.Lys389=)
c.1629+1230C= (n.1629+1230C=)
n.2049C=
c.1650G= (p.Lys550=)
1g.54609298C>GCA340440756ACOT11,FAM151Ac.1728G>C (p.Lys576Asn)
c.*186C>G (n.*186C>G)
c.1167G>C (p.Lys389Asn)
c.1629+1230C>G (n.1629+1230C>G)
n.2049C>G
c.1650G>C (p.Lys550Asn)
1g.54609298C>TCA418177228ACOT11,FAM151Ac.1728G>A (p.Lys576=)
c.*186C>T (n.*186C>T)
c.1167G>A (p.Lys389=)
c.1629+1230C>T (n.1629+1230C>T)
n.2049C>T
c.1650G>A (p.Lys550=)
dbSNP gnomAD v2 gnomAD v4
1g.54609298_54609299delinsCTCA1167798420ACOT11,FAM151Ac.1727_1728delinsAG (p.Lys576=)
c.*186_*187delinsCT (n.*186_*187delinsCT)
c.1166_1167delinsAG (p.Lys389=)
c.1629+1230_1629+1231delinsCT (n.1629+1230_1629+1231delinsCT)
n.2049_2050delinsCT
c.1649_1650delinsAG (p.Lys550=)
1g.54609299T>ACA340440761ACOT11,FAM151Ac.1727A>T (p.Lys576Met)
c.*187T>A (n.*187T>A)
c.1166A>T (p.Lys389Met)
c.1629+1231T>A (n.1629+1231T>A)
n.2050T>A
c.1649A>T (p.Lys550Met)
1g.54609299T>CCA340440764ACOT11,FAM151Ac.1727A>G (p.Lys576Arg)
c.*187T>C (n.*187T>C)
c.1166A>G (p.Lys389Arg)
c.1629+1231T>C (n.1629+1231T>C)
n.2050T>C
c.1649A>G (p.Lys550Arg)
1g.54609299T>GCA340440765ACOT11,FAM151Ac.1727A>C (p.Lys576Thr)
c.*187T>G (n.*187T>G)
c.1166A>C (p.Lys389Thr)
c.1629+1231T>G (n.1629+1231T>G)
n.2050T>G
c.1649A>C (p.Lys550Thr)
1g.54609300delCA523274609ACOT11,FAM151Ac.1727del (p.Lys576ArgfsTer?)
c.*188del (n.*188del)
c.1166del (p.Lys389ArgfsTer?)
c.1629+1232del (n.1629+1232del)
n.2051del
c.1649del (p.Lys550ArgfsTer?)
dbSNP gnomAD v2 gnomAD v4
1g.54609300T>ACA340440768ACOT11,FAM151Ac.1726A>T (p.Lys576Ter)
c.*188T>A (n.*188T>A)
c.1165A>T (p.Lys389Ter)
c.1629+1232T>A (n.1629+1232T>A)
n.2051T>A
c.1648A>T (p.Lys550Ter)
1g.54609300T>CCA340440771ACOT11,FAM151Ac.1726A>G (p.Lys576Glu)
c.*188T>C (n.*188T>C)
c.1165A>G (p.Lys389Glu)
c.1629+1232T>C (n.1629+1232T>C)
n.2051T>C
c.1648A>G (p.Lys550Glu)
1g.54609300T>GCA340440773ACOT11,FAM151Ac.1726A>C (p.Lys576Gln)
c.*188T>G (n.*188T>G)
c.1165A>C (p.Lys389Gln)
c.1629+1232T>G (n.1629+1232T>G)
n.2051T>G
c.1648A>C (p.Lys550Gln)
1g.54609300T=CA1167798421ACOT11,FAM151Ac.1726A= (p.Lys576=)
c.*188T= (n.*188T=)
c.1165A= (p.Lys389=)
c.1629+1232T= (n.1629+1232T=)
n.2051T=
c.1648A= (p.Lys550=)
1g.54609301G>ACA418177229ACOT11,FAM151Ac.1725C>T (p.His575=)
c.*189G>A (n.*189G>A)
c.1164C>T (p.His388=)
c.1629+1233G>A (n.1629+1233G>A)
n.2052G>A
c.1647C>T (p.His549=)
1g.54609301G>CCA340440776ACOT11,FAM151Ac.1725C>G (p.His575Gln)
c.*189G>C (n.*189G>C)
c.1164C>G (p.His388Gln)
c.1629+1233G>C (n.1629+1233G>C)
n.2052G>C
c.1647C>G (p.His549Gln)
gnomAD v4
1g.54609301G>TCA340440779ACOT11,FAM151Ac.1725C>A (p.His575Gln)
c.*189G>T (n.*189G>T)
c.1164C>A (p.His388Gln)
c.1629+1233G>T (n.1629+1233G>T)
n.2052G>T
c.1647C>A (p.His549Gln)
gnomAD v4
1g.54609301_54609302delinsGTCA1167798422ACOT11,FAM151Ac.1724_1725delinsAC (p.His575=)
c.*189_*190delinsGT (n.*189_*190delinsGT)
c.1163_1164delinsAC (p.His388=)
c.1629+1233_1629+1234delinsGT (n.1629+1233_1629+1234delinsGT)
n.2052_2053delinsGT
c.1646_1647delinsAC (p.His549=)
1g.54609302_54609333dupCA1001886549ACOT11,FAM151Ac.1694_1725dup (p.Lys576GlufsTer?)
c.*190_*221dup (n.*190_*221dup)
c.1133_1164dup (p.Lys389GlufsTer?)
c.1629+1234_1629+1265dup (n.1629+1234_1629+1265dup)
n.2053_2084dup
c.1616_1647dup (p.Lys550GlufsTer?)
dbSNP gnomAD v3 gnomAD v4
1g.54609303_54609336delCA2645794456ACOT11,FAM151Ac.1692_1725del (p.Val566ThrfsTer?)
c.*191_*224del (n.*191_*224del)
c.1131_1164del (p.Val379ThrfsTer?)
c.1629+1235_1629+1268del (n.1629+1235_1629+1268del)
n.2054_2087del
c.1614_1647del (p.Val540ThrfsTer?)
gnomAD v4
1g.54609302delCA523274610ACOT11,FAM151Ac.1724del (p.His575ProfsTer?)
c.*190del (n.*190del)
c.1163del (p.His388ProfsTer?)
c.1629+1234del (n.1629+1234del)
n.2053del
c.1646del (p.His549ProfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.54609302T>ACA340440782ACOT11,FAM151Ac.1724A>T (p.His575Leu)
c.*190T>A (n.*190T>A)
c.1163A>T (p.His388Leu)
c.1629+1234T>A (n.1629+1234T>A)
n.2053T>A
c.1646A>T (p.His549Leu)
1g.54609302T>CCA866833ACOT11,FAM151Ac.1724A>G (p.His575Arg)
c.*190T>C (n.*190T>C)
c.1163A>G (p.His388Arg)
c.1629+1234T>C (n.1629+1234T>C)
n.2053T>C
c.1646A>G (p.His549Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.54609302T>GCA340440785ACOT11,FAM151Ac.1724A>C (p.His575Pro)
c.*190T>G (n.*190T>G)
c.1163A>C (p.His388Pro)
c.1629+1234T>G (n.1629+1234T>G)
n.2053T>G
c.1646A>C (p.His549Pro)
1g.54609302T=CA1167798423ACOT11,FAM151Ac.1724A= (p.His575=)
c.*190T= (n.*190T=)
c.1163A= (p.His388=)
c.1629+1234T= (n.1629+1234T=)
n.2053T=
c.1646A= (p.His549=)
1g.54609303G>ACA340440789ACOT11,FAM151Ac.1723C>T (p.His575Tyr)
c.*191G>A (n.*191G>A)
c.1162C>T (p.His388Tyr)
c.1629+1235G>A (n.1629+1235G>A)
n.2054G>A
c.1645C>T (p.His549Tyr)
dbSNP gnomAD v2 gnomAD v4
1g.54609303G>CCA340440791ACOT11,FAM151Ac.1723C>G (p.His575Asp)
c.*191G>C (n.*191G>C)
c.1162C>G (p.His388Asp)
c.1629+1235G>C (n.1629+1235G>C)
n.2054G>C
c.1645C>G (p.His549Asp)
1g.54609303G=CA1167798424ACOT11,FAM151Ac.1723C= (p.His575=)
c.*191G= (n.*191G=)
c.1162C= (p.His388=)
c.1629+1235G= (n.1629+1235G=)
n.2054G=
c.1645C= (p.His549=)
1g.54609303G>TCA340440792ACOT11,FAM151Ac.1723C>A (p.His575Asn)
c.*191G>T (n.*191G>T)
c.1162C>A (p.His388Asn)
c.1629+1235G>T (n.1629+1235G>T)
n.2054G>T
c.1645C>A (p.His549Asn)
1g.54609310_54609320dupCA2645794457ACOT11,FAM151Ac.1713_1723dup (p.His575ProfsTer?)
c.*198_*208dup (n.*198_*208dup)
c.1152_1162dup (p.His388ProfsTer?)
c.1629+1242_1629+1252dup (n.1629+1242_1629+1252dup)
n.2061_2071dup
c.1635_1645dup (p.His549ProfsTer?)
gnomAD v4
1g.54609310_54609320delCA2645794458ACOT11,FAM151Ac.1713_1723del (p.Tyr574LeufsTer7)
c.*198_*208del (n.*198_*208del)
c.1152_1162del (p.Tyr387LeufsTer7)
c.1629+1242_1629+1252del (n.1629+1242_1629+1252del)
n.2061_2071del
c.1635_1645del (p.Tyr548LeufsTer7)
gnomAD v4
1g.54609304G>ACA418177230ACOT11,FAM151Ac.1722C>T (p.Tyr574=)
c.*192G>A (n.*192G>A)
c.1161C>T (p.Tyr387=)
c.1629+1236G>A (n.1629+1236G>A)
n.2055G>A
c.1644C>T (p.Tyr548=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.54609304G>CCA340440795ACOT11,FAM151Ac.1722C>G (p.Tyr574Ter)
c.*192G>C (n.*192G>C)
c.1161C>G (p.Tyr387Ter)
c.1629+1236G>C (n.1629+1236G>C)
n.2055G>C
c.1644C>G (p.Tyr548Ter)
1g.54609304G=CA1167798425ACOT11,FAM151Ac.1722C= (p.Tyr574=)
c.*192G= (n.*192G=)
c.1161C= (p.Tyr387=)
c.1629+1236G= (n.1629+1236G=)
n.2055G=
c.1644C= (p.Tyr548=)
1g.54609304G>TCA340440804ACOT11,FAM151Ac.1722C>A (p.Tyr574Ter)
c.*192G>T (n.*192G>T)
c.1161C>A (p.Tyr387Ter)
c.1629+1236G>T (n.1629+1236G>T)
n.2055G>T
c.1644C>A (p.Tyr548Ter)
1g.54609305T>ACA866834ACOT11,FAM151Ac.1721A>T (p.Tyr574Phe)
c.*193T>A (n.*193T>A)
c.1160A>T (p.Tyr387Phe)
c.1629+1237T>A (n.1629+1237T>A)
n.2056T>A
c.1643A>T (p.Tyr548Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609305T>CCA340440809ACOT11,FAM151Ac.1721A>G (p.Tyr574Cys)
c.*193T>C (n.*193T>C)
c.1160A>G (p.Tyr387Cys)
c.1629+1237T>C (n.1629+1237T>C)
n.2056T>C
c.1643A>G (p.Tyr548Cys)
1g.54609305T>GCA340440812ACOT11,FAM151Ac.1721A>C (p.Tyr574Ser)
c.*193T>G (n.*193T>G)
c.1160A>C (p.Tyr387Ser)
c.1629+1237T>G (n.1629+1237T>G)
n.2056T>G
c.1643A>C (p.Tyr548Ser)
1g.54609305T=CA1143371353ACOT11,FAM151Ac.1721A= (p.Tyr574=)
c.*193T= (n.*193T=)
c.1160A= (p.Tyr387=)
c.1629+1237T= (n.1629+1237T=)
n.2056T=
c.1643A= (p.Tyr548=)
1g.54609306A>CCA340440814ACOT11,FAM151Ac.1720T>G (p.Tyr574Asp)
c.*194A>C (n.*194A>C)
c.1159T>G (p.Tyr387Asp)
c.1629+1238A>C (n.1629+1238A>C)
n.2057A>C
c.1642T>G (p.Tyr548Asp)
1g.54609306A>GCA340440817ACOT11,FAM151Ac.1720T>C (p.Tyr574His)
c.*194A>G (n.*194A>G)
c.1159T>C (p.Tyr387His)
c.1629+1238A>G (n.1629+1238A>G)
n.2057A>G
c.1642T>C (p.Tyr548His)
1g.54609306A>TCA340440819ACOT11,FAM151Ac.1720T>A (p.Tyr574Asn)
c.*194A>T (n.*194A>T)
c.1159T>A (p.Tyr387Asn)
c.1629+1238A>T (n.1629+1238A>T)
n.2057A>T
c.1642T>A (p.Tyr548Asn)
1g.54609307G>ACA866835ACOT11,FAM151Ac.1719C>T (p.Gly573=)
c.*195G>A (n.*195G>A)
c.1158C>T (p.Gly386=)
c.1629+1239G>A (n.1629+1239G>A)
n.2058G>A
c.1641C>T (p.Gly547=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609307G>CCA418177231ACOT11,FAM151Ac.1719C>G (p.Gly573=)
c.*195G>C (n.*195G>C)
c.1158C>G (p.Gly386=)
c.1629+1239G>C (n.1629+1239G>C)
n.2058G>C
c.1641C>G (p.Gly547=)
dbSNP
1g.54609307G=CA1167798426ACOT11,FAM151Ac.1719C= (p.Gly573=)
c.*195G= (n.*195G=)
c.1158C= (p.Gly386=)
c.1629+1239G= (n.1629+1239G=)
n.2058G=
c.1641C= (p.Gly547=)
1g.54609307G>TCA418177232ACOT11,FAM151Ac.1719C>A (p.Gly573=)
c.*195G>T (n.*195G>T)
c.1158C>A (p.Gly386=)
c.1629+1239G>T (n.1629+1239G>T)
n.2058G>T
c.1641C>A (p.Gly547=)
1g.54609308C>ACA340440823ACOT11,FAM151Ac.1718G>T (p.Gly573Val)
c.*196C>A (n.*196C>A)
c.1157G>T (p.Gly386Val)
c.1629+1240C>A (n.1629+1240C>A)
n.2059C>A
c.1640G>T (p.Gly547Val)
1g.54609308C=CA1167798427ACOT11,FAM151Ac.1718G= (p.Gly573=)
c.*196C= (n.*196C=)
c.1157G= (p.Gly386=)
c.1629+1240C= (n.1629+1240C=)
n.2059C=
c.1640G= (p.Gly547=)
1g.54609308C>GCA340440824ACOT11,FAM151Ac.1718G>C (p.Gly573Ala)
c.*196C>G (n.*196C>G)
c.1157G>C (p.Gly386Ala)
c.1629+1240C>G (n.1629+1240C>G)
n.2059C>G
c.1640G>C (p.Gly547Ala)
1g.54609308C>TCA340440825ACOT11,FAM151Ac.1718G>A (p.Gly573Asp)
c.*196C>T (n.*196C>T)
c.1157G>A (p.Gly386Asp)
c.1629+1240C>T (n.1629+1240C>T)
n.2059C>T
c.1640G>A (p.Gly547Asp)
dbSNP
1g.54609309C>ACA340440826ACOT11,FAM151Ac.1717G>T (p.Gly573Cys)
c.*197C>A (n.*197C>A)
c.1156G>T (p.Gly386Cys)
c.1629+1241C>A (n.1629+1241C>A)
n.2060C>A
c.1639G>T (p.Gly547Cys)
1g.54609309C=CA1167798428ACOT11,FAM151Ac.1717G= (p.Gly573=)
c.*197C= (n.*197C=)
c.1156G= (p.Gly386=)
c.1629+1241C= (n.1629+1241C=)
n.2060C=
c.1639G= (p.Gly547=)
1g.54609309C>GCA22715353ACOT11,FAM151Ac.1717G>C (p.Gly573Arg)
c.*197C>G (n.*197C>G)
c.1156G>C (p.Gly386Arg)
c.1629+1241C>G (n.1629+1241C>G)
n.2060C>G
c.1639G>C (p.Gly547Arg)
dbSNP
1g.54609309C>TCA340440827ACOT11,FAM151Ac.1717G>A (p.Gly573Ser)
c.*197C>T (n.*197C>T)
c.1156G>A (p.Gly386Ser)
c.1629+1241C>T (n.1629+1241C>T)
n.2060C>T
c.1639G>A (p.Gly547Ser)
1g.54609310C>ACA340440828ACOT11,FAM151Ac.1716G>T (p.Gln572His)
c.*198C>A (n.*198C>A)
c.1155G>T (p.Gln385His)
c.1629+1242C>A (n.1629+1242C>A)
n.2061C>A
c.1638G>T (p.Gln546His)
1g.54609310C>GCA340440831ACOT11,FAM151Ac.1716G>C (p.Gln572His)
c.*198C>G (n.*198C>G)
c.1155G>C (p.Gln385His)
c.1629+1242C>G (n.1629+1242C>G)
n.2061C>G
c.1638G>C (p.Gln546His)
1g.54609310C>TCA418177233ACOT11,FAM151Ac.1716G>A (p.Gln572=)
c.*198C>T (n.*198C>T)
c.1155G>A (p.Gln385=)
c.1629+1242C>T (n.1629+1242C>T)
n.2061C>T
c.1638G>A (p.Gln546=)
1g.54609311T>ACA340440834ACOT11,FAM151Ac.1715A>T (p.Gln572Leu)
c.*199T>A (n.*199T>A)
c.1154A>T (p.Gln385Leu)
c.1629+1243T>A (n.1629+1243T>A)
n.2062T>A
c.1637A>T (p.Gln546Leu)
1g.54609311T>CCA340440839ACOT11,FAM151Ac.1715A>G (p.Gln572Arg)
c.*199T>C (n.*199T>C)
c.1154A>G (p.Gln385Arg)
c.1629+1243T>C (n.1629+1243T>C)
n.2062T>C
c.1637A>G (p.Gln546Arg)
gnomAD v4
1g.54609311T>GCA340440836ACOT11,FAM151Ac.1715A>C (p.Gln572Pro)
c.*199T>G (n.*199T>G)
c.1154A>C (p.Gln385Pro)
c.1629+1243T>G (n.1629+1243T>G)
n.2062T>G
c.1637A>C (p.Gln546Pro)
1g.54609312G>ACA340440842ACOT11,FAM151Ac.1714C>T (p.Gln572Ter)
c.*200G>A (n.*200G>A)
c.1153C>T (p.Gln385Ter)
c.1629+1244G>A (n.1629+1244G>A)
n.2063G>A
c.1636C>T (p.Gln546Ter)
1g.54609312G>CCA340440849ACOT11,FAM151Ac.1714C>G (p.Gln572Glu)
c.*200G>C (n.*200G>C)
c.1153C>G (p.Gln385Glu)
c.1629+1244G>C (n.1629+1244G>C)
n.2063G>C
c.1636C>G (p.Gln546Glu)
1g.54609312G>TCA340440851ACOT11,FAM151Ac.1714C>A (p.Gln572Lys)
c.*200G>T (n.*200G>T)
c.1153C>A (p.Gln385Lys)
c.1629+1244G>T (n.1629+1244G>T)
n.2063G>T
c.1636C>A (p.Gln546Lys)
1g.54609312_54609332delinsGGGGTAGCCTGTAGTAGACTCCA1167798429ACOT11,FAM151Ac.1694_1714delinsGAGTCTACTACAGGCTACCCC (p.Arg565=)
c.*200_*220delinsGGGGTAGCCTGTAGTAGACTC (n.*200_*220delinsGGGGTAGCCTGTAGTAGACTC)
c.1133_1153delinsGAGTCTACTACAGGCTACCCC (p.Arg378=)
c.1629+1244_1629+1264delinsGGGGTAGCCTGTAGTAGACTC (n.1629+1244_1629+1264delinsGGGGTAGCCTGTAGTAGACTC)
n.2063_2083delinsGGGGTAGCCTGTAGTAGACTC
c.1616_1636delinsGAGTCTACTACAGGCTACCCC (p.Arg539=)
1g.54609313G>ACA418177234ACOT11,FAM151Ac.1713C>T (p.Pro571=)
c.*201G>A (n.*201G>A)
c.1152C>T (p.Pro384=)
c.1629+1245G>A (n.1629+1245G>A)
n.2064G>A
c.1635C>T (p.Pro545=)
1g.54609313G>CCA418177235ACOT11,FAM151Ac.1713C>G (p.Pro571=)
c.*201G>C (n.*201G>C)
c.1152C>G (p.Pro384=)
c.1629+1245G>C (n.1629+1245G>C)
n.2064G>C
c.1635C>G (p.Pro545=)
1g.54609313G=CA1149153173ACOT11,FAM151Ac.1713C= (p.Pro571=)
c.*201G= (n.*201G=)
c.1152C= (p.Pro384=)
c.1629+1245G= (n.1629+1245G=)
n.2064G=
c.1635C= (p.Pro545=)
1g.54609313G>TCA866837ACOT11,FAM151Ac.1713C>A (p.Pro571=)
c.*201G>T (n.*201G>T)
c.1152C>A (p.Pro384=)
c.1629+1245G>T (n.1629+1245G>T)
n.2064G>T
c.1635C>A (p.Pro545=)
dbSNP ExAC
1g.54609317_54609336delCA866836ACOT11,FAM151Ac.1694_1713del (p.Arg565ProfsTer13)
c.*205_*224del (n.*205_*224del)
c.1133_1152del (p.Arg378ProfsTer13)
c.1629+1249_1629+1268del (n.1629+1249_1629+1268del)
n.2068_2087del
c.1616_1635del (p.Arg539ProfsTer13)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609314G>ACA340440860ACOT11,FAM151Ac.1712C>T (p.Pro571Leu)
c.*202G>A (n.*202G>A)
c.1151C>T (p.Pro384Leu)
c.1629+1246G>A (n.1629+1246G>A)
n.2065G>A
c.1634C>T (p.Pro545Leu)
1g.54609314G>CCA340440861ACOT11,FAM151Ac.1712C>G (p.Pro571Arg)
c.*202G>C (n.*202G>C)
c.1151C>G (p.Pro384Arg)
c.1629+1246G>C (n.1629+1246G>C)
n.2065G>C
c.1634C>G (p.Pro545Arg)
1g.54609314G>TCA340440862ACOT11,FAM151Ac.1712C>A (p.Pro571His)
c.*202G>T (n.*202G>T)
c.1151C>A (p.Pro384His)
c.1629+1246G>T (n.1629+1246G>T)
n.2065G>T
c.1634C>A (p.Pro545His)
1g.54609314_54609324delinsGGTAGCCTGTACA1167798430ACOT11,FAM151Ac.1702_1712delinsTACAGGCTACC (p.Tyr568=)
c.*202_*212delinsGGTAGCCTGTA (n.*202_*212delinsGGTAGCCTGTA)
c.1141_1151delinsTACAGGCTACC (p.Tyr381=)
c.1629+1246_1629+1256delinsGGTAGCCTGTA (n.1629+1246_1629+1256delinsGGTAGCCTGTA)
n.2065_2075delinsGGTAGCCTGTA
c.1624_1634delinsTACAGGCTACC (p.Tyr542=)
1g.54609315G>ACA340440864ACOT11,FAM151Ac.1711C>T (p.Pro571Ser)
c.*203G>A (n.*203G>A)
c.1150C>T (p.Pro384Ser)
c.1629+1247G>A (n.1629+1247G>A)
n.2066G>A
c.1633C>T (p.Pro545Ser)
dbSNP gnomAD v4
1g.54609315G>CCA340440866ACOT11,FAM151Ac.1711C>G (p.Pro571Ala)
c.*203G>C (n.*203G>C)
c.1150C>G (p.Pro384Ala)
c.1629+1247G>C (n.1629+1247G>C)
n.2066G>C
c.1633C>G (p.Pro545Ala)
1g.54609315G=CA1167798431ACOT11,FAM151Ac.1711C= (p.Pro571=)
c.*203G= (n.*203G=)
c.1150C= (p.Pro384=)
c.1629+1247G= (n.1629+1247G=)
n.2066G=
c.1633C= (p.Pro545=)
1g.54609315G>TCA340440869ACOT11,FAM151Ac.1711C>A (p.Pro571Thr)
c.*203G>T (n.*203G>T)
c.1150C>A (p.Pro384Thr)
c.1629+1247G>T (n.1629+1247G>T)
n.2066G>T
c.1633C>A (p.Pro545Thr)
dbSNP gnomAD v3 gnomAD v4
1g.54609319_54609328delCA523274611ACOT11,FAM151Ac.1702_1711del (p.Tyr568ProfsTer?)
c.*207_*216del (n.*207_*216del)
c.1141_1150del (p.Tyr381ProfsTer?)
c.1629+1251_1629+1260del (n.1629+1251_1629+1260del)
n.2070_2079del
c.1624_1633del (p.Tyr542ProfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.54609316T>ACA418177236ACOT11,FAM151Ac.1710A>T (p.Leu570=)
c.*204T>A (n.*204T>A)
c.1149A>T (p.Leu383=)
c.1629+1248T>A (n.1629+1248T>A)
n.2067T>A
c.1632A>T (p.Leu544=)
1g.54609316T>CCA866838ACOT11,FAM151Ac.1710A>G (p.Leu570=)
c.*204T>C (n.*204T>C)
c.1149A>G (p.Leu383=)
c.1629+1248T>C (n.1629+1248T>C)
n.2067T>C
c.1632A>G (p.Leu544=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609316T>GCA418177237ACOT11,FAM151Ac.1710A>C (p.Leu570=)
c.*204T>G (n.*204T>G)
c.1149A>C (p.Leu383=)
c.1629+1248T>G (n.1629+1248T>G)
n.2067T>G
c.1632A>C (p.Leu544=)
dbSNP
1g.54609316T=CA1142396874ACOT11,FAM151Ac.1710A= (p.Leu570=)
c.*204T= (n.*204T=)
c.1149A= (p.Leu383=)
c.1629+1248T= (n.1629+1248T=)
n.2067T=
c.1632A= (p.Leu544=)
1g.54609317A>CCA340440873ACOT11,FAM151Ac.1709T>G (p.Leu570Arg)
c.*205A>C (n.*205A>C)
c.1148T>G (p.Leu383Arg)
c.1629+1249A>C (n.1629+1249A>C)
n.2068A>C
c.1631T>G (p.Leu544Arg)
1g.54609317A>GCA340440884ACOT11,FAM151Ac.1709T>C (p.Leu570Pro)
c.*205A>G (n.*205A>G)
c.1148T>C (p.Leu383Pro)
c.1629+1249A>G (n.1629+1249A>G)
n.2068A>G
c.1631T>C (p.Leu544Pro)
1g.54609317A>TCA340440876ACOT11,FAM151Ac.1709T>A (p.Leu570Gln)
c.*205A>T (n.*205A>T)
c.1148T>A (p.Leu383Gln)
c.1629+1249A>T (n.1629+1249A>T)
n.2068A>T
c.1631T>A (p.Leu544Gln)
1g.54609318G>ACA418177238ACOT11,FAM151Ac.1708C>T (p.Leu570=)
c.*206G>A (n.*206G>A)
c.1147C>T (p.Leu383=)
c.1629+1250G>A (n.1629+1250G>A)
n.2069G>A
c.1630C>T (p.Leu544=)
1g.54609318G>CCA340440887ACOT11,FAM151Ac.1708C>G (p.Leu570Val)
c.*206G>C (n.*206G>C)
c.1147C>G (p.Leu383Val)
c.1629+1250G>C (n.1629+1250G>C)
n.2069G>C
c.1630C>G (p.Leu544Val)
1g.54609318G>TCA340440888ACOT11,FAM151Ac.1708C>A (p.Leu570Ile)
c.*206G>T (n.*206G>T)
c.1147C>A (p.Leu383Ile)
c.1629+1250G>T (n.1629+1250G>T)
n.2069G>T
c.1630C>A (p.Leu544Ile)
1g.54609319C>ACA340440890ACOT11,FAM151Ac.1707G>T (p.Arg569Ser)
c.*207C>A (n.*207C>A)
c.1146G>T (p.Arg382Ser)
c.1629+1251C>A (n.1629+1251C>A)
n.2070C>A
c.1629G>T (p.Arg543Ser)
1g.54609319C=CA1167798433ACOT11,FAM151Ac.1707G= (p.Arg569=)
c.*207C= (n.*207C=)
c.1146G= (p.Arg382=)
c.1629+1251C= (n.1629+1251C=)
n.2070C=
c.1629G= (p.Arg543=)
1g.54609319C>GCA340440892ACOT11,FAM151Ac.1707G>C (p.Arg569Ser)
c.*207C>G (n.*207C>G)
c.1146G>C (p.Arg382Ser)
c.1629+1251C>G (n.1629+1251C>G)
n.2070C>G
c.1629G>C (p.Arg543Ser)
dbSNP gnomAD v4
1g.54609319C>TCA418177239ACOT11,FAM151Ac.1707G>A (p.Arg569=)
c.*207C>T (n.*207C>T)
c.1146G>A (p.Arg382=)
c.1629+1251C>T (n.1629+1251C>T)
n.2070C>T
c.1629G>A (p.Arg543=)
1g.54609319_54609329delinsCCTGTAGTAGACA1167798432ACOT11,FAM151Ac.1697_1707delinsTCTACTACAGG (p.Val566=)
c.*207_*217delinsCCTGTAGTAGA (n.*207_*217delinsCCTGTAGTAGA)
c.1136_1146delinsTCTACTACAGG (p.Val379=)
c.1629+1251_1629+1261delinsCCTGTAGTAGA (n.1629+1251_1629+1261delinsCCTGTAGTAGA)
n.2070_2080delinsCCTGTAGTAGA
c.1619_1629delinsTCTACTACAGG (p.Val540=)
1g.54609320C>ACA340440895ACOT11,FAM151Ac.1706G>T (p.Arg569Met)
c.*208C>A (n.*208C>A)
c.1145G>T (p.Arg382Met)
c.1629+1252C>A (n.1629+1252C>A)
n.2071C>A
c.1628G>T (p.Arg543Met)
1g.54609320C>GCA340440897ACOT11,FAM151Ac.1706G>C (p.Arg569Thr)
c.*208C>G (n.*208C>G)
c.1145G>C (p.Arg382Thr)
c.1629+1252C>G (n.1629+1252C>G)
n.2071C>G
c.1628G>C (p.Arg543Thr)
1g.54609320C>TCA340440900ACOT11,FAM151Ac.1706G>A (p.Arg569Lys)
c.*208C>T (n.*208C>T)
c.1145G>A (p.Arg382Lys)
c.1629+1252C>T (n.1629+1252C>T)
n.2071C>T
c.1628G>A (p.Arg543Lys)
1g.54609322_54609331delCA866839ACOT11,FAM151Ac.1697_1706del (p.Val566GlyfsTer?)
c.*210_*219del (n.*210_*219del)
c.1136_1145del (p.Val379GlyfsTer?)
c.1629+1254_1629+1263del (n.1629+1254_1629+1263del)
n.2073_2082del
c.1619_1628del (p.Val540GlyfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609320_54609321insCACCCCATCTATTTTCTCCAGAGCAGGCTCA2645794459ACOT11,FAM151Ac.1705_1706insAGCCTGCTCTGGAGAAAATAGATGGGGTG (p.Arg569LysfsTer?)
c.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT (n.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT)
c.1144_1145insAGCCTGCTCTGGAGAAAATAGATGGGGTG (p.Arg382LysfsTer?)
c.1629+1252_1629+1253insCACCCCATCTATTTTCTCCAGAGCAGGCT (n.1629+1252_1629+1253insCACCCCATCTATTTTCTCCAGAGCAGGCT)
n.2071_2072insCACCCCATCTATTTTCTCCAGAGCAGGCT
c.1627_1628insAGCCTGCTCTGGAGAAAATAGATGGGGTG (p.Arg543LysfsTer?)
gnomAD v4
1g.54609321T>ACA340440905ACOT11,FAM151Ac.1705A>T (p.Arg569Trp)
c.*209T>A (n.*209T>A)
c.1144A>T (p.Arg382Trp)
c.1629+1253T>A (n.1629+1253T>A)
n.2072T>A
c.1627A>T (p.Arg543Trp)
1g.54609321T>CCA340440907ACOT11,FAM151Ac.1705A>G (p.Arg569Gly)
c.*209T>C (n.*209T>C)
c.1144A>G (p.Arg382Gly)
c.1629+1253T>C (n.1629+1253T>C)
n.2072T>C
c.1627A>G (p.Arg543Gly)
1g.54609321T>GCA418177240ACOT11,FAM151Ac.1705A>C (p.Arg569=)
c.*209T>G (n.*209T>G)
c.1144A>C (p.Arg382=)
c.1629+1253T>G (n.1629+1253T>G)
n.2072T>G
c.1627A>C (p.Arg543=)
1g.54609322G>ACA418177241ACOT11,FAM151Ac.1704C>T (p.Tyr568=)
c.*210G>A (n.*210G>A)
c.1143C>T (p.Tyr381=)
c.1629+1254G>A (n.1629+1254G>A)
n.2073G>A
c.1626C>T (p.Tyr542=)
1g.54609322G>CCA340440911ACOT11,FAM151Ac.1704C>G (p.Tyr568Ter)
c.*210G>C (n.*210G>C)
c.1143C>G (p.Tyr381Ter)
c.1629+1254G>C (n.1629+1254G>C)
n.2073G>C
c.1626C>G (p.Tyr542Ter)
1g.54609322G>TCA340440909ACOT11,FAM151Ac.1704C>A (p.Tyr568Ter)
c.*210G>T (n.*210G>T)
c.1143C>A (p.Tyr381Ter)
c.1629+1254G>T (n.1629+1254G>T)
n.2073G>T
c.1626C>A (p.Tyr542Ter)
1g.54609323T>ACA340440913ACOT11,FAM151Ac.1703A>T (p.Tyr568Phe)
c.*211T>A (n.*211T>A)
c.1142A>T (p.Tyr381Phe)
c.1629+1255T>A (n.1629+1255T>A)
n.2074T>A
c.1625A>T (p.Tyr542Phe)
1g.54609323T>CCA340440915ACOT11,FAM151Ac.1703A>G (p.Tyr568Cys)
c.*211T>C (n.*211T>C)
c.1142A>G (p.Tyr381Cys)
c.1629+1255T>C (n.1629+1255T>C)
n.2074T>C
c.1625A>G (p.Tyr542Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.54609323T>GCA340440920ACOT11,FAM151Ac.1703A>C (p.Tyr568Ser)
c.*211T>G (n.*211T>G)
c.1142A>C (p.Tyr381Ser)
c.1629+1255T>G (n.1629+1255T>G)
n.2074T>G
c.1625A>C (p.Tyr542Ser)
1g.54609323T=CA1167798434ACOT11,FAM151Ac.1703A= (p.Tyr568=)
c.*211T= (n.*211T=)
c.1142A= (p.Tyr381=)
c.1629+1255T= (n.1629+1255T=)
n.2074T=
c.1625A= (p.Tyr542=)
1g.54609324A=CA1167798435ACOT11,FAM151Ac.1702T= (p.Tyr568=)
c.*212A= (n.*212A=)
c.1141T= (p.Tyr381=)
c.1629+1256A= (n.1629+1256A=)
n.2075A=
c.1624T= (p.Tyr542=)
1g.54609324A>CCA340440923ACOT11,FAM151Ac.1702T>G (p.Tyr568Asp)
c.*212A>C (n.*212A>C)
c.1141T>G (p.Tyr381Asp)
c.1629+1256A>C (n.1629+1256A>C)
n.2075A>C
c.1624T>G (p.Tyr542Asp)
1g.54609324A>GCA340440926ACOT11,FAM151Ac.1702T>C (p.Tyr568His)
c.*212A>G (n.*212A>G)
c.1141T>C (p.Tyr381His)
c.1629+1256A>G (n.1629+1256A>G)
n.2075A>G
c.1624T>C (p.Tyr542His)
dbSNP gnomAD v2 gnomAD v4
1g.54609324A>TCA340440928ACOT11,FAM151Ac.1702T>A (p.Tyr568Asn)
c.*212A>T (n.*212A>T)
c.1141T>A (p.Tyr381Asn)
c.1629+1256A>T (n.1629+1256A>T)
n.2075A>T
c.1624T>A (p.Tyr542Asn)
1g.54609325_54609326insCTCTTTATACATGGTCTTCCTGCTGAAGCA2645794460ACOT11,FAM151Ac.1702_1703insTCAGCAGGAAGACCATGTATAAAGAGCT (p.Tyr568PhefsTer26)
c.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG (n.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG)
c.1141_1142insTCAGCAGGAAGACCATGTATAAAGAGCT (p.Tyr381PhefsTer26)
c.1629+1257_1629+1258insCTCTTTATACATGGTCTTCCTGCTGAAG (n.1629+1257_1629+1258insCTCTTTATACATGGTCTTCCTGCTGAAG)
n.2076_2077insCTCTTTATACATGGTCTTCCTGCTGAAG
c.1624_1625insTCAGCAGGAAGACCATGTATAAAGAGCT (p.Tyr542PhefsTer26)
gnomAD v4
1g.54609325G>ACA418177242ACOT11,FAM151Ac.1701C>T (p.Tyr567=)
c.*213G>A (n.*213G>A)
c.1140C>T (p.Tyr380=)
c.1629+1257G>A (n.1629+1257G>A)
n.2076G>A
c.1623C>T (p.Tyr541=)
1g.54609325G>CCA340440933ACOT11,FAM151Ac.1701C>G (p.Tyr567Ter)
c.*213G>C (n.*213G>C)
c.1140C>G (p.Tyr380Ter)
c.1629+1257G>C (n.1629+1257G>C)
n.2076G>C
c.1623C>G (p.Tyr541Ter)
1g.54609325G>TCA340440930ACOT11,FAM151Ac.1701C>A (p.Tyr567Ter)
c.*213G>T (n.*213G>T)
c.1140C>A (p.Tyr380Ter)
c.1629+1257G>T (n.1629+1257G>T)
n.2076G>T
c.1623C>A (p.Tyr541Ter)
1g.54609326T>ACA340440934ACOT11,FAM151Ac.1700A>T (p.Tyr567Phe)
c.*214T>A (n.*214T>A)
c.1139A>T (p.Tyr380Phe)
c.1629+1258T>A (n.1629+1258T>A)
n.2077T>A
c.1622A>T (p.Tyr541Phe)
1g.54609326T>CCA340440936ACOT11,FAM151Ac.1700A>G (p.Tyr567Cys)
c.*214T>C (n.*214T>C)
c.1139A>G (p.Tyr380Cys)
c.1629+1258T>C (n.1629+1258T>C)
n.2077T>C
c.1622A>G (p.Tyr541Cys)
dbSNP
1g.54609326T>GCA340440938ACOT11,FAM151Ac.1700A>C (p.Tyr567Ser)
c.*214T>G (n.*214T>G)
c.1139A>C (p.Tyr380Ser)
c.1629+1258T>G (n.1629+1258T>G)
n.2077T>G
c.1622A>C (p.Tyr541Ser)
1g.54609326T=CA1167798436ACOT11,FAM151Ac.1700A= (p.Tyr567=)
c.*214T= (n.*214T=)
c.1139A= (p.Tyr380=)
c.1629+1258T= (n.1629+1258T=)
n.2077T=
c.1622A= (p.Tyr541=)
1g.54609327A>CCA340440939ACOT11,FAM151Ac.1699T>G (p.Tyr567Asp)
c.*215A>C (n.*215A>C)
c.1138T>G (p.Tyr380Asp)
c.1629+1259A>C (n.1629+1259A>C)
n.2078A>C
c.1621T>G (p.Tyr541Asp)
1g.54609327A>GCA340440941ACOT11,FAM151Ac.1699T>C (p.Tyr567His)
c.*215A>G (n.*215A>G)
c.1138T>C (p.Tyr380His)
c.1629+1259A>G (n.1629+1259A>G)
n.2078A>G
c.1621T>C (p.Tyr541His)
1g.54609327A>TCA340440944ACOT11,FAM151Ac.1699T>A (p.Tyr567Asn)
c.*215A>T (n.*215A>T)
c.1138T>A (p.Tyr380Asn)
c.1629+1259A>T (n.1629+1259A>T)
n.2078A>T
c.1621T>A (p.Tyr541Asn)
1g.54609328G>ACA418177243ACOT11,FAM151Ac.1698C>T (p.Val566=)
c.*216G>A (n.*216G>A)
c.1137C>T (p.Val379=)
c.1629+1260G>A (n.1629+1260G>A)
n.2079G>A
c.1620C>T (p.Val540=)
gnomAD v4
1g.54609328G>CCA418177244ACOT11,FAM151Ac.1698C>G (p.Val566=)
c.*216G>C (n.*216G>C)
c.1137C>G (p.Val379=)
c.1629+1260G>C (n.1629+1260G>C)
n.2079G>C
c.1620C>G (p.Val540=)
1g.54609328G>TCA418177245ACOT11,FAM151Ac.1698C>A (p.Val566=)
c.*216G>T (n.*216G>T)
c.1137C>A (p.Val379=)
c.1629+1260G>T (n.1629+1260G>T)
n.2079G>T
c.1620C>A (p.Val540=)
1g.54609329A>CCA340440945ACOT11,FAM151Ac.1697T>G (p.Val566Gly)
c.*217A>C (n.*217A>C)
c.1136T>G (p.Val379Gly)
c.1629+1261A>C (n.1629+1261A>C)
n.2080A>C
c.1619T>G (p.Val540Gly)
1g.54609329A>GCA340440951ACOT11,FAM151Ac.1697T>C (p.Val566Ala)
c.*217A>G (n.*217A>G)
c.1136T>C (p.Val379Ala)
c.1629+1261A>G (n.1629+1261A>G)
n.2080A>G
c.1619T>C (p.Val540Ala)
1g.54609329A>TCA340440948ACOT11,FAM151Ac.1697T>A (p.Val566Asp)
c.*217A>T (n.*217A>T)
c.1136T>A (p.Val379Asp)
c.1629+1261A>T (n.1629+1261A>T)
n.2080A>T
c.1619T>A (p.Val540Asp)
1g.54609330C>ACA340440954ACOT11,FAM151Ac.1696G>T (p.Val566Phe)
c.*218C>A (n.*218C>A)
c.1135G>T (p.Val379Phe)
c.1629+1262C>A (n.1629+1262C>A)
n.2081C>A
c.1618G>T (p.Val540Phe)
1g.54609330C=CA1167798437ACOT11,FAM151Ac.1696G= (p.Val566=)
c.*218C= (n.*218C=)
c.1135G= (p.Val379=)
c.1629+1262C= (n.1629+1262C=)
n.2081C=
c.1618G= (p.Val540=)
1g.54609330C>GCA340440956ACOT11,FAM151Ac.1696G>C (p.Val566Leu)
c.*218C>G (n.*218C>G)
c.1135G>C (p.Val379Leu)
c.1629+1262C>G (n.1629+1262C>G)
n.2081C>G
c.1618G>C (p.Val540Leu)
1g.54609330C>TCA340440961ACOT11,FAM151Ac.1696G>A (p.Val566Ile)
c.*218C>T (n.*218C>T)
c.1135G>A (p.Val379Ile)
c.1629+1262C>T (n.1629+1262C>T)
n.2081C>T
c.1618G>A (p.Val540Ile)
dbSNP gnomAD v3 gnomAD v4
1g.54609331T>ACA418177246ACOT11,FAM151Ac.1695A>T (p.Arg565=)
c.*219T>A (n.*219T>A)
c.1134A>T (p.Arg378=)
c.1629+1263T>A (n.1629+1263T>A)
n.2082T>A
c.1617A>T (p.Arg539=)
1g.54609331T>CCA418177248ACOT11,FAM151Ac.1695A>G (p.Arg565=)
c.*219T>C (n.*219T>C)
c.1134A>G (p.Arg378=)
c.1629+1263T>C (n.1629+1263T>C)
n.2082T>C
c.1617A>G (p.Arg539=)
1g.54609331T>GCA418177247ACOT11,FAM151Ac.1695A>C (p.Arg565=)
c.*219T>G (n.*219T>G)
c.1134A>C (p.Arg378=)
c.1629+1263T>G (n.1629+1263T>G)
n.2082T>G
c.1617A>C (p.Arg539=)
1g.54609332C>ACA340440963ACOT11,FAM151Ac.1694G>T (p.Arg565Leu)
c.*220C>A (n.*220C>A)
c.1133G>T (p.Arg378Leu)
c.1629+1264C>A (n.1629+1264C>A)
n.2083C>A
c.1616G>T (p.Arg539Leu)
1g.54609332C=CA1143437576ACOT11,FAM151Ac.1694G= (p.Arg565=)
c.*220C= (n.*220C=)
c.1133G= (p.Arg378=)
c.1629+1264C= (n.1629+1264C=)
n.2083C=
c.1616G= (p.Arg539=)
1g.54609332C>GCA340440965ACOT11,FAM151Ac.1694G>C (p.Arg565Pro)
c.*220C>G (n.*220C>G)
c.1133G>C (p.Arg378Pro)
c.1629+1264C>G (n.1629+1264C>G)
n.2083C>G
c.1616G>C (p.Arg539Pro)
1g.54609332C>TCA866840ACOT11,FAM151Ac.1694G>A (p.Arg565Gln)
c.*220C>T (n.*220C>T)
c.1133G>A (p.Arg378Gln)
c.1629+1264C>T (n.1629+1264C>T)
n.2083C>T
c.1616G>A (p.Arg539Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609333G>ACA866841ACOT11,FAM151Ac.1693C>T (p.Arg565Ter)
c.*221G>A (n.*221G>A)
c.1132C>T (p.Arg378Ter)
c.1629+1265G>A (n.1629+1265G>A)
n.2084G>A
c.1615C>T (p.Arg539Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609333G>CCA340440969ACOT11,FAM151Ac.1693C>G (p.Arg565Gly)
c.*221G>C (n.*221G>C)
c.1132C>G (p.Arg378Gly)
c.1629+1265G>C (n.1629+1265G>C)
n.2084G>C
c.1615C>G (p.Arg539Gly)
gnomAD v4
1g.54609333G=CA1142002603ACOT11,FAM151Ac.1693C= (p.Arg565=)
c.*221G= (n.*221G=)
c.1132C= (p.Arg378=)
c.1629+1265G= (n.1629+1265G=)
n.2084G=
c.1615C= (p.Arg539=)
1g.54609333G>TCA418177249ACOT11,FAM151Ac.1693C>A (p.Arg565=)
c.*221G>T (n.*221G>T)
c.1132C>A (p.Arg378=)
c.1629+1265G>T (n.1629+1265G>T)
n.2084G>T
c.1615C>A (p.Arg539=)
gnomAD v4
1g.54609334G>ACA418177250ACOT11,FAM151Ac.1692C>T (p.Thr564=)
c.*222G>A (n.*222G>A)
c.1131C>T (p.Thr377=)
c.1629+1266G>A (n.1629+1266G>A)
n.2085G>A
c.1614C>T (p.Thr538=)
gnomAD v4
1g.54609334G>CCA418177251ACOT11,FAM151Ac.1692C>G (p.Thr564=)
c.*222G>C (n.*222G>C)
c.1131C>G (p.Thr377=)
c.1629+1266G>C (n.1629+1266G>C)
n.2085G>C
c.1614C>G (p.Thr538=)
1g.54609334G>TCA418177252ACOT11,FAM151Ac.1692C>A (p.Thr564=)
c.*222G>T (n.*222G>T)
c.1131C>A (p.Thr377=)
c.1629+1266G>T (n.1629+1266G>T)
n.2085G>T
c.1614C>A (p.Thr538=)
1g.54609335G>ACA340440972ACOT11,FAM151Ac.1691C>T (p.Thr564Ile)
c.*223G>A (n.*223G>A)
c.1130C>T (p.Thr377Ile)
c.1629+1267G>A (n.1629+1267G>A)
n.2086G>A
c.1613C>T (p.Thr538Ile)
gnomAD v4
1g.54609335G>CCA340440974ACOT11,FAM151Ac.1691C>G (p.Thr564Ser)
c.*223G>C (n.*223G>C)
c.1130C>G (p.Thr377Ser)
c.1629+1267G>C (n.1629+1267G>C)
n.2086G>C
c.1613C>G (p.Thr538Ser)
1g.54609335G=CA1167798438ACOT11,FAM151Ac.1691C= (p.Thr564=)
c.*223G= (n.*223G=)
c.1130C= (p.Thr377=)
c.1629+1267G= (n.1629+1267G=)
n.2086G=
c.1613C= (p.Thr538=)
1g.54609335G>TCA340440976ACOT11,FAM151Ac.1691C>A (p.Thr564Asn)
c.*223G>T (n.*223G>T)
c.1130C>A (p.Thr377Asn)
c.1629+1267G>T (n.1629+1267G>T)
n.2086G>T
c.1613C>A (p.Thr538Asn)
dbSNP gnomAD v2 gnomAD v4
1g.54609336T>ACA340440984ACOT11,FAM151Ac.1690A>T (p.Thr564Ser)
c.*224T>A (n.*224T>A)
c.1129A>T (p.Thr377Ser)
c.1629+1268T>A (n.1629+1268T>A)
n.2087T>A
c.1612A>T (p.Thr538Ser)
1g.54609336T>CCA340440983ACOT11,FAM151Ac.1690A>G (p.Thr564Ala)
c.*224T>C (n.*224T>C)
c.1129A>G (p.Thr377Ala)
c.1629+1268T>C (n.1629+1268T>C)
n.2087T>C
c.1612A>G (p.Thr538Ala)
1g.54609336T>GCA340440980ACOT11,FAM151Ac.1690A>C (p.Thr564Pro)
c.*224T>G (n.*224T>G)
c.1129A>C (p.Thr377Pro)
c.1629+1268T>G (n.1629+1268T>G)
n.2087T>G
c.1612A>C (p.Thr538Pro)
dbSNP
1g.54609336T=CA1167798439ACOT11,FAM151Ac.1690A= (p.Thr564=)
c.*224T= (n.*224T=)
c.1129A= (p.Thr377=)
c.1629+1268T= (n.1629+1268T=)
n.2087T=
c.1612A= (p.Thr538=)
1g.54609337C>ACA340440986ACOT11,FAM151Ac.1689G>T (p.Arg563Ser)
c.*225C>A (n.*225C>A)
c.1128G>T (p.Arg376Ser)
c.1629+1269C>A (n.1629+1269C>A)
n.2088C>A
c.1611G>T (p.Arg537Ser)
gnomAD v4
1g.54609337C=CA1147507182ACOT11,FAM151Ac.1689G= (p.Arg563=)
c.*225C= (n.*225C=)
c.1128G= (p.Arg376=)
c.1629+1269C= (n.1629+1269C=)
n.2088C=
c.1611G= (p.Arg537=)
1g.54609337C>GCA340440991ACOT11,FAM151Ac.1689G>C (p.Arg563Ser)
c.*225C>G (n.*225C>G)
c.1128G>C (p.Arg376Ser)
c.1629+1269C>G (n.1629+1269C>G)
n.2088C>G
c.1611G>C (p.Arg537Ser)
1g.54609337C>TCA866842ACOT11,FAM151Ac.1689G>A (p.Arg563=)
c.*225C>T (n.*225C>T)
c.1128G>A (p.Arg376=)
c.1629+1269C>T (n.1629+1269C>T)
n.2088C>T
c.1611G>A (p.Arg537=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609338C>ACA340440992ACOT11,FAM151Ac.1688G>T (p.Arg563Met)
c.*226C>A (n.*226C>A)
c.1127G>T (p.Arg376Met)
c.1629+1270C>A (n.1629+1270C>A)
n.2089C>A
c.1610G>T (p.Arg537Met)
1g.54609338C=CA1167798440ACOT11,FAM151Ac.1688G= (p.Arg563=)
c.*226C= (n.*226C=)
c.1127G= (p.Arg376=)
c.1629+1270C= (n.1629+1270C=)
n.2089C=
c.1610G= (p.Arg537=)
1g.54609338C>GCA340440995ACOT11,FAM151Ac.1688G>C (p.Arg563Thr)
c.*226C>G (n.*226C>G)
c.1127G>C (p.Arg376Thr)
c.1629+1270C>G (n.1629+1270C>G)
n.2089C>G
c.1610G>C (p.Arg537Thr)
1g.54609338C>TCA866843ACOT11,FAM151Ac.1688G>A (p.Arg563Lys)
c.*226C>T (n.*226C>T)
c.1127G>A (p.Arg376Lys)
c.1629+1270C>T (n.1629+1270C>T)
n.2089C>T
c.1610G>A (p.Arg537Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609339T>ACA340440997ACOT11,FAM151Ac.1687A>T (p.Arg563Trp)
c.*227T>A (n.*227T>A)
c.1126A>T (p.Arg376Trp)
c.1629+1271T>A (n.1629+1271T>A)
n.2090T>A
c.1609A>T (p.Arg537Trp)
1g.54609339T>CCA340440998ACOT11,FAM151Ac.1687A>G (p.Arg563Gly)
c.*227T>C (n.*227T>C)
c.1126A>G (p.Arg376Gly)
c.1629+1271T>C (n.1629+1271T>C)
n.2090T>C
c.1609A>G (p.Arg537Gly)
gnomAD v4
1g.54609339T>GCA418177253ACOT11,FAM151Ac.1687A>C (p.Arg563=)
c.*227T>G (n.*227T>G)
c.1126A>C (p.Arg376=)
c.1629+1271T>G (n.1629+1271T>G)
n.2090T>G
c.1609A>C (p.Arg537=)
1g.54609340_54609341delCA2645794461ACOT11,FAM151Ac.1686_1687del (p.Asp562GlufsTer22)
c.*228_*229del (n.*228_*229del)
c.1125_1126del (p.Asp375GlufsTer22)
c.1629+1272_1629+1273del (n.1629+1272_1629+1273del)
n.2091_2092del
c.1608_1609del (p.Asp536GlufsTer22)
gnomAD v4
1g.54609340G>ACA418177254ACOT11,FAM151Ac.1686C>T (p.Asp562=)
c.*228G>A (n.*228G>A)
c.1125C>T (p.Asp375=)
c.1629+1272G>A (n.1629+1272G>A)
n.2091G>A
c.1608C>T (p.Asp536=)
1g.54609340G>CCA340441002ACOT11,FAM151Ac.1686C>G (p.Asp562Glu)
c.*228G>C (n.*228G>C)
c.1125C>G (p.Asp375Glu)
c.1629+1272G>C (n.1629+1272G>C)
n.2091G>C
c.1608C>G (p.Asp536Glu)
1g.54609340G>TCA340441004ACOT11,FAM151Ac.1686C>A (p.Asp562Glu)
c.*228G>T (n.*228G>T)
c.1125C>A (p.Asp375Glu)
c.1629+1272G>T (n.1629+1272G>T)
n.2091G>T
c.1608C>A (p.Asp536Glu)
gnomAD v4
1g.54609341T>ACA340441006ACOT11,FAM151Ac.1685A>T (p.Asp562Val)
c.*229T>A (n.*229T>A)
c.1124A>T (p.Asp375Val)
c.1629+1273T>A (n.1629+1273T>A)
n.2092T>A
c.1607A>T (p.Asp536Val)
1g.54609341T>CCA340441008ACOT11,FAM151Ac.1685A>G (p.Asp562Gly)
c.*229T>C (n.*229T>C)
c.1124A>G (p.Asp375Gly)
c.1629+1273T>C (n.1629+1273T>C)
n.2092T>C
c.1607A>G (p.Asp536Gly)
dbSNP
1g.54609341T>GCA340441010ACOT11,FAM151Ac.1685A>C (p.Asp562Ala)
c.*229T>G (n.*229T>G)
c.1124A>C (p.Asp375Ala)
c.1629+1273T>G (n.1629+1273T>G)
n.2092T>G
c.1607A>C (p.Asp536Ala)
1g.54609341T=CA1167798441ACOT11,FAM151Ac.1685A= (p.Asp562=)
c.*229T= (n.*229T=)
c.1124A= (p.Asp375=)
c.1629+1273T= (n.1629+1273T=)
n.2092T=
c.1607A= (p.Asp536=)
1g.54609342C>ACA340441011ACOT11,FAM151Ac.1684G>T (p.Asp562Tyr)
c.*230C>A (n.*230C>A)
c.1123G>T (p.Asp375Tyr)
c.1629+1274C>A (n.1629+1274C>A)
n.2093C>A
c.1606G>T (p.Asp536Tyr)
1g.54609342C>GCA340441014ACOT11,FAM151Ac.1684G>C (p.Asp562His)
c.*230C>G (n.*230C>G)
c.1123G>C (p.Asp375His)
c.1629+1274C>G (n.1629+1274C>G)
n.2093C>G
c.1606G>C (p.Asp536His)
1g.54609342C>TCA340441017ACOT11,FAM151Ac.1684G>A (p.Asp562Asn)
c.*230C>T (n.*230C>T)
c.1123G>A (p.Asp375Asn)
c.1629+1274C>T (n.1629+1274C>T)
n.2093C>T
c.1606G>A (p.Asp536Asn)
1g.54609344_54609350delCA2645794462ACOT11,FAM151Ac.1678_1684del (p.Ala560ThrfsTer?)
c.*232_*238del (n.*232_*238del)
c.1117_1123del (p.Ala373ThrfsTer?)
c.1629+1276_1629+1282del (n.1629+1276_1629+1282del)
n.2095_2101del
c.1600_1606del (p.Ala534ThrfsTer?)
gnomAD v4
1g.54609343C>ACA418177255ACOT11,FAM151Ac.1683G>T (p.Val561=)
c.*231C>A (n.*231C>A)
c.1122G>T (p.Val374=)
c.1629+1275C>A (n.1629+1275C>A)
n.2094C>A
c.1605G>T (p.Val535=)
1g.54609343C>GCA418177256ACOT11,FAM151Ac.1683G>C (p.Val561=)
c.*231C>G (n.*231C>G)
c.1122G>C (p.Val374=)
c.1629+1275C>G (n.1629+1275C>G)
n.2094C>G
c.1605G>C (p.Val535=)
1g.54609343C>TCA418177257ACOT11,FAM151Ac.1683G>A (p.Val561=)
c.*231C>T (n.*231C>T)
c.1122G>A (p.Val374=)
c.1629+1275C>T (n.1629+1275C>T)
n.2094C>T
c.1605G>A (p.Val535=)
1g.54609344A>CCA340441018ACOT11,FAM151Ac.1682T>G (p.Val561Gly)
c.*232A>C (n.*232A>C)
c.1121T>G (p.Val374Gly)
c.1629+1276A>C (n.1629+1276A>C)
n.2095A>C
c.1604T>G (p.Val535Gly)
1g.54609344A>GCA340441020ACOT11,FAM151Ac.1682T>C (p.Val561Ala)
c.*232A>G (n.*232A>G)
c.1121T>C (p.Val374Ala)
c.1629+1276A>G (n.1629+1276A>G)
n.2095A>G
c.1604T>C (p.Val535Ala)
1g.54609344A>TCA340441023ACOT11,FAM151Ac.1682T>A (p.Val561Glu)
c.*232A>T (n.*232A>T)
c.1121T>A (p.Val374Glu)
c.1629+1276A>T (n.1629+1276A>T)
n.2095A>T
c.1604T>A (p.Val535Glu)
1g.54609345C>ACA340441027ACOT11,FAM151Ac.1681G>T (p.Val561Leu)
c.*233C>A (n.*233C>A)
c.1120G>T (p.Val374Leu)
c.1629+1277C>A (n.1629+1277C>A)
n.2096C>A
c.1603G>T (p.Val535Leu)
1g.54609345C=CA1148876740ACOT11,FAM151Ac.1681G= (p.Val561=)
c.*233C= (n.*233C=)
c.1120G= (p.Val374=)
c.1629+1277C= (n.1629+1277C=)
n.2096C=
c.1603G= (p.Val535=)
1g.54609345C>GCA340441030ACOT11,FAM151Ac.1681G>C (p.Val561Leu)
c.*233C>G (n.*233C>G)
c.1120G>C (p.Val374Leu)
c.1629+1277C>G (n.1629+1277C>G)
n.2096C>G
c.1603G>C (p.Val535Leu)
1g.54609345C>TCA866844ACOT11,FAM151Ac.1681G>A (p.Val561Met)
c.*233C>T (n.*233C>T)
c.1120G>A (p.Val374Met)
c.1629+1277C>T (n.1629+1277C>T)
n.2096C>T
c.1603G>A (p.Val535Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609346A>CCA418177258ACOT11,FAM151Ac.1680T>G (p.Ala560=)
c.*234A>C (n.*234A>C)
c.1119T>G (p.Ala373=)
c.1629+1278A>C (n.1629+1278A>C)
n.2097A>C
c.1602T>G (p.Ala534=)
1g.54609346A>GCA418177259ACOT11,FAM151Ac.1680T>C (p.Ala560=)
c.*234A>G (n.*234A>G)
c.1119T>C (p.Ala373=)
c.1629+1278A>G (n.1629+1278A>G)
n.2097A>G
c.1602T>C (p.Ala534=)
1g.54609346A>TCA418177260ACOT11,FAM151Ac.1680T>A (p.Ala560=)
c.*234A>T (n.*234A>T)
c.1119T>A (p.Ala373=)
c.1629+1278A>T (n.1629+1278A>T)
n.2097A>T
c.1602T>A (p.Ala534=)
1g.54609347G>ACA340441034ACOT11,FAM151Ac.1679C>T (p.Ala560Val)
c.*235G>A (n.*235G>A)
c.1118C>T (p.Ala373Val)
c.1629+1279G>A (n.1629+1279G>A)
n.2098G>A
c.1601C>T (p.Ala534Val)
gnomAD v4
1g.54609347G>CCA22715393ACOT11,FAM151Ac.1679C>G (p.Ala560Gly)
c.*235G>C (n.*235G>C)
c.1118C>G (p.Ala373Gly)
c.1629+1279G>C (n.1629+1279G>C)
n.2098G>C
c.1601C>G (p.Ala534Gly)
dbSNP gnomAD v3 gnomAD v4
1g.54609347G=CA1143473541ACOT11,FAM151Ac.1679C= (p.Ala560=)
c.*235G= (n.*235G=)
c.1118C= (p.Ala373=)
c.1629+1279G= (n.1629+1279G=)
n.2098G=
c.1601C= (p.Ala534=)
1g.54609347G>TCA340441037ACOT11,FAM151Ac.1679C>A (p.Ala560Asp)
c.*235G>T (n.*235G>T)
c.1118C>A (p.Ala373Asp)
c.1629+1279G>T (n.1629+1279G>T)
n.2098G>T
c.1601C>A (p.Ala534Asp)
1g.54609348C>ACA340441041ACOT11,FAM151Ac.1678G>T (p.Ala560Ser)
c.*236C>A (n.*236C>A)
c.1117G>T (p.Ala373Ser)
c.1629+1280C>A (n.1629+1280C>A)
n.2099C>A
c.1600G>T (p.Ala534Ser)
1g.54609348C=CA1167798442ACOT11,FAM151Ac.1678G= (p.Ala560=)
c.*236C= (n.*236C=)
c.1117G= (p.Ala373=)
c.1629+1280C= (n.1629+1280C=)
n.2099C=
c.1600G= (p.Ala534=)
1g.54609348C>GCA866845ACOT11,FAM151Ac.1678G>C (p.Ala560Pro)
c.*236C>G (n.*236C>G)
c.1117G>C (p.Ala373Pro)
c.1629+1280C>G (n.1629+1280C>G)
n.2099C>G
c.1600G>C (p.Ala534Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.54609348C>TCA340441044ACOT11,FAM151Ac.1678G>A (p.Ala560Thr)
c.*236C>T (n.*236C>T)
c.1117G>A (p.Ala373Thr)
c.1629+1280C>T (n.1629+1280C>T)
n.2099C>T
c.1600G>A (p.Ala534Thr)
1g.54609349C>ACA340441047ACOT11,FAM151Ac.1677G>T (p.Arg559Ser)
c.*237C>A (n.*237C>A)
c.1116G>T (p.Arg372Ser)
c.1629+1281C>A (n.1629+1281C>A)
n.2100C>A
c.1599G>T (p.Arg533Ser)
1g.54609349C>GCA340441048ACOT11,FAM151Ac.1677G>C (p.Arg559Ser)
c.*237C>G (n.*237C>G)
c.1116G>C (p.Arg372Ser)
c.1629+1281C>G (n.1629+1281C>G)
n.2100C>G
c.1599G>C (p.Arg533Ser)
1g.54609349C>TCA418177261ACOT11,FAM151Ac.1677G>A (p.Arg559=)
c.*237C>T (n.*237C>T)
c.1116G>A (p.Arg372=)
c.1629+1281C>T (n.1629+1281C>T)
n.2100C>T
c.1599G>A (p.Arg533=)
1g.54609350C>ACA340441051ACOT11,FAM151Ac.1676G>T (p.Arg559Met)
c.*238C>A (n.*238C>A)
c.1115G>T (p.Arg372Met)
c.1629+1282C>A (n.1629+1282C>A)
n.2101C>A
c.1598G>T (p.Arg533Met)
dbSNP gnomAD v2 gnomAD v4
1g.54609350C=CA1167798443ACOT11,FAM151Ac.1676G= (p.Arg559=)
c.*238C= (n.*238C=)
c.1115G= (p.Arg372=)
c.1629+1282C= (n.1629+1282C=)
n.2101C=
c.1598G= (p.Arg533=)
1g.54609350C>GCA340441052ACOT11,FAM151Ac.1676G>C (p.Arg559Thr)
c.*238C>G (n.*238C>G)
c.1115G>C (p.Arg372Thr)
c.1629+1282C>G (n.1629+1282C>G)
n.2101C>G
c.1598G>C (p.Arg533Thr)
dbSNP
1g.54609350C>TCA340441054ACOT11,FAM151Ac.1676G>A (p.Arg559Lys)
c.*238C>T (n.*238C>T)
c.1115G>A (p.Arg372Lys)
c.1629+1282C>T (n.1629+1282C>T)
n.2101C>T
c.1598G>A (p.Arg533Lys)
dbSNP
1g.54609351T>ACA340441058ACOT11,FAM151Ac.1675A>T (p.Arg559Trp)
c.*239T>A (n.*239T>A)
c.1114A>T (p.Arg372Trp)
c.1629+1283T>A (n.1629+1283T>A)
n.2102T>A
c.1597A>T (p.Arg533Trp)
1g.54609351T>CCA340441057ACOT11,FAM151Ac.1675A>G (p.Arg559Gly)
c.*239T>C (n.*239T>C)
c.1114A>G (p.Arg372Gly)
c.1629+1283T>C (n.1629+1283T>C)
n.2102T>C
c.1597A>G (p.Arg533Gly)
1g.54609351T>GCA418177262ACOT11,FAM151Ac.1675A>C (p.Arg559=)
c.*239T>G (n.*239T>G)
c.1114A>C (p.Arg372=)
c.1629+1283T>G (n.1629+1283T>G)
n.2102T>G
c.1597A>C (p.Arg533=)
1g.54609352A>CCA418177263ACOT11,FAM151Ac.1674T>G (p.Ala558=)
c.*240A>C (n.*240A>C)
c.1113T>G (p.Ala371=)
c.1629+1284A>C (n.1629+1284A>C)
n.2103A>C
c.1596T>G (p.Ala532=)
1g.54609352A>GCA418177264ACOT11,FAM151Ac.1674T>C (p.Ala558=)
c.*240A>G (n.*240A>G)
c.1113T>C (p.Ala371=)
c.1629+1284A>G (n.1629+1284A>G)
n.2103A>G
c.1596T>C (p.Ala532=)
1g.54609352A>TCA418177265ACOT11,FAM151Ac.1674T>A (p.Ala558=)
c.*240A>T (n.*240A>T)
c.1113T>A (p.Ala371=)
c.1629+1284A>T (n.1629+1284A>T)
n.2103A>T
c.1596T>A (p.Ala532=)
1g.54609353G>ACA340441061ACOT11,FAM151Ac.1673C>T (p.Ala558Val)
c.*241G>A (n.*241G>A)
c.1112C>T (p.Ala371Val)
c.1629+1285G>A (n.1629+1285G>A)
n.2104G>A
c.1595C>T (p.Ala532Val)
dbSNP gnomAD v2 gnomAD v4
1g.54609353G>CCA340441063ACOT11,FAM151Ac.1673C>G (p.Ala558Gly)
c.*241G>C (n.*241G>C)
c.1112C>G (p.Ala371Gly)
c.1629+1285G>C (n.1629+1285G>C)
n.2104G>C
c.1595C>G (p.Ala532Gly)
1g.54609353G=CA1167798444ACOT11,FAM151Ac.1673C= (p.Ala558=)
c.*241G= (n.*241G=)
c.1112C= (p.Ala371=)
c.1629+1285G= (n.1629+1285G=)
n.2104G=
c.1595C= (p.Ala532=)
1g.54609353G>TCA340441064ACOT11,FAM151Ac.1673C>A (p.Ala558Asp)
c.*241G>T (n.*241G>T)
c.1112C>A (p.Ala371Asp)
c.1629+1285G>T (n.1629+1285G>T)
n.2104G>T
c.1595C>A (p.Ala532Asp)
1g.54609354C>ACA340441068ACOT11,FAM151Ac.1672G>T (p.Ala558Ser)
c.*242C>A (n.*242C>A)
c.1111G>T (p.Ala371Ser)
c.1629+1286C>A (n.1629+1286C>A)
n.2105C>A
c.1594G>T (p.Ala532Ser)
1g.54609354C=CA1167798445ACOT11,FAM151Ac.1672G= (p.Ala558=)
c.*242C= (n.*242C=)
c.1111G= (p.Ala371=)
c.1629+1286C= (n.1629+1286C=)
n.2105C=
c.1594G= (p.Ala532=)
1g.54609354C>GCA340441070ACOT11,FAM151Ac.1672G>C (p.Ala558Pro)
c.*242C>G (n.*242C>G)
c.1111G>C (p.Ala371Pro)
c.1629+1286C>G (n.1629+1286C>G)
n.2105C>G
c.1594G>C (p.Ala532Pro)
gnomAD v4
1g.54609354C>TCA340441072ACOT11,FAM151Ac.1672G>A (p.Ala558Thr)
c.*242C>T (n.*242C>T)
c.1111G>A (p.Ala371Thr)
c.1629+1286C>T (n.1629+1286C>T)
n.2105C>T
c.1594G>A (p.Ala532Thr)
dbSNP gnomAD v2
1g.54609355T>ACA418177266ACOT11,FAM151Ac.1671A>T (p.Ala557=)
c.*243T>A (n.*243T>A)
c.1110A>T (p.Ala370=)
c.1629+1287T>A (n.1629+1287T>A)
n.2106T>A
c.1593A>T (p.Ala531=)
1g.54609355T>CCA418177267ACOT11,FAM151Ac.1671A>G (p.Ala557=)
c.*243T>C (n.*243T>C)
c.1110A>G (p.Ala370=)
c.1629+1287T>C (n.1629+1287T>C)
n.2106T>C
c.1593A>G (p.Ala531=)
gnomAD v4
1g.54609355T>GCA418177268ACOT11,FAM151Ac.1671A>C (p.Ala557=)
c.*243T>G (n.*243T>G)
c.1110A>C (p.Ala370=)
c.1629+1287T>G (n.1629+1287T>G)
n.2106T>G
c.1593A>C (p.Ala531=)
1g.54609356G>ACA340441075ACOT11,FAM151Ac.1670C>T (p.Ala557Val)
c.*244G>A (n.*244G>A)
c.1109C>T (p.Ala370Val)
c.1629+1288G>A (n.1629+1288G>A)
n.2107G>A
c.1592C>T (p.Ala531Val)
dbSNP gnomAD v2 gnomAD v4
1g.54609356G>CCA340441077ACOT11,FAM151Ac.1670C>G (p.Ala557Gly)
c.*244G>C (n.*244G>C)
c.1109C>G (p.Ala370Gly)
c.1629+1288G>C (n.1629+1288G>C)
n.2107G>C
c.1592C>G (p.Ala531Gly)
1g.54609356G=CA1167798446ACOT11,FAM151Ac.1670C= (p.Ala557=)
c.*244G= (n.*244G=)
c.1109C= (p.Ala370=)
c.1629+1288G= (n.1629+1288G=)
n.2107G=
c.1592C= (p.Ala531=)
1g.54609356G>TCA866846ACOT11,FAM151Ac.1670C>A (p.Ala557Glu)
c.*244G>T (n.*244G>T)
c.1109C>A (p.Ala370Glu)
c.1629+1288G>T (n.1629+1288G>T)
n.2107G>T
c.1592C>A (p.Ala531Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.54609357C>ACA340441083ACOT11,FAM151Ac.1669G>T (p.Ala557Ser)
c.*245C>A (n.*245C>A)
c.1108G>T (p.Ala370Ser)
c.1629+1289C>A (n.1629+1289C>A)
n.2108C>A
c.1591G>T (p.Ala531Ser)
1g.54609357C>GCA340441085ACOT11,FAM151Ac.1669G>C (p.Ala557Pro)
c.*245C>G (n.*245C>G)
c.1108G>C (p.Ala370Pro)
c.1629+1289C>G (n.1629+1289C>G)
n.2108C>G
c.1591G>C (p.Ala531Pro)
1g.54609357C>TCA340441088ACOT11,FAM151Ac.1669G>A (p.Ala557Thr)
c.*245C>T (n.*245C>T)
c.1108G>A (p.Ala370Thr)
c.1629+1289C>T (n.1629+1289C>T)
n.2108C>T
c.1591G>A (p.Ala531Thr)
1g.54609358C>ACA418177269ACOT11,FAM151Ac.1668G>T (p.Leu556=)
c.*246C>A (n.*246C>A)
c.1107G>T (p.Leu369=)
c.1629+1290C>A (n.1629+1290C>A)
n.2109C>A
c.1590G>T (p.Leu530=)
dbSNP gnomAD v3 gnomAD v4
1g.54609358C=CA1148436919ACOT11,FAM151Ac.1668G= (p.Leu556=)
c.*246C= (n.*246C=)
c.1107G= (p.Leu369=)
c.1629+1290C= (n.1629+1290C=)
n.2109C=
c.1590G= (p.Leu530=)
1g.54609358C>GCA418177270ACOT11,FAM151Ac.1668G>C (p.Leu556=)
c.*246C>G (n.*246C>G)
c.1107G>C (p.Leu369=)
c.1629+1290C>G (n.1629+1290C>G)
n.2109C>G
c.1590G>C (p.Leu530=)
1g.54609358C>TCA866847ACOT11,FAM151Ac.1668G>A (p.Leu556=)
c.*246C>T (n.*246C>T)
c.1107G>A (p.Leu369=)
c.1629+1290C>T (n.1629+1290C>T)
n.2109C>T
c.1590G>A (p.Leu530=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609359A=CA1167798447ACOT11,FAM151Ac.1667T= (p.Leu556=)
c.*247A= (n.*247A=)
c.1106T= (p.Leu369=)
c.1629+1291A= (n.1629+1291A=)
n.2110A=
c.1589T= (p.Leu530=)
1g.54609359A>CCA340441097ACOT11,FAM151Ac.1667T>G (p.Leu556Arg)
c.*247A>C (n.*247A>C)
c.1106T>G (p.Leu369Arg)
c.1629+1291A>C (n.1629+1291A>C)
n.2110A>C
c.1589T>G (p.Leu530Arg)
1g.54609359A>GCA340441094ACOT11,FAM151Ac.1667T>C (p.Leu556Pro)
c.*247A>G (n.*247A>G)
c.1106T>C (p.Leu369Pro)
c.1629+1291A>G (n.1629+1291A>G)
n.2110A>G
c.1589T>C (p.Leu530Pro)
dbSNP gnomAD v3 gnomAD v4
1g.54609359A>TCA340441093ACOT11,FAM151Ac.1667T>A (p.Leu556Gln)
c.*247A>T (n.*247A>T)
c.1106T>A (p.Leu369Gln)
c.1629+1291A>T (n.1629+1291A>T)
n.2110A>T
c.1589T>A (p.Leu530Gln)
1g.54609360G>ACA418177271ACOT11,FAM151Ac.1666C>T (p.Leu556=)
c.*248G>A (n.*248G>A)
c.1105C>T (p.Leu369=)
c.1629+1292G>A (n.1629+1292G>A)
n.2111G>A
c.1588C>T (p.Leu530=)
1g.54609360G>CCA340441098ACOT11,FAM151Ac.1666C>G (p.Leu556Val)
c.*248G>C (n.*248G>C)
c.1105C>G (p.Leu369Val)
c.1629+1292G>C (n.1629+1292G>C)
n.2111G>C
c.1588C>G (p.Leu530Val)
1g.54609360G>TCA340441100ACOT11,FAM151Ac.1666C>A (p.Leu556Met)
c.*248G>T (n.*248G>T)
c.1105C>A (p.Leu369Met)
c.1629+1292G>T (n.1629+1292G>T)
n.2111G>T
c.1588C>A (p.Leu530Met)
1g.54609361C>ACA340441102ACOT11,FAM151Ac.1665G>T (p.Leu555Phe)
c.*249C>A (n.*249C>A)
c.1104G>T (p.Leu368Phe)
c.1629+1293C>A (n.1629+1293C>A)
n.2112C>A
c.1587G>T (p.Leu529Phe)
1g.54609361C>GCA340441105ACOT11,FAM151Ac.1665G>C (p.Leu555Phe)
c.*249C>G (n.*249C>G)
c.1104G>C (p.Leu368Phe)
c.1629+1293C>G (n.1629+1293C>G)
n.2112C>G
c.1587G>C (p.Leu529Phe)
1g.54609361C>TCA418177272ACOT11,FAM151Ac.1665G>A (p.Leu555=)
c.*249C>T (n.*249C>T)
c.1104G>A (p.Leu368=)
c.1629+1293C>T (n.1629+1293C>T)
n.2112C>T
c.1587G>A (p.Leu529=)
1g.54609362A>CCA340441108ACOT11,FAM151Ac.1664T>G (p.Leu555Trp)
c.*250A>C (n.*250A>C)
c.1103T>G (p.Leu368Trp)
c.1629+1294A>C (n.1629+1294A>C)
n.2113A>C
c.1586T>G (p.Leu529Trp)
gnomAD v4
1g.54609362A>GCA340441111ACOT11,FAM151Ac.1664T>C (p.Leu555Ser)
c.*250A>G (n.*250A>G)
c.1103T>C (p.Leu368Ser)
c.1629+1294A>G (n.1629+1294A>G)
n.2113A>G
c.1586T>C (p.Leu529Ser)
1g.54609362A>TCA340441113ACOT11,FAM151Ac.1664T>A (p.Leu555Ter)
c.*250A>T (n.*250A>T)
c.1103T>A (p.Leu368Ter)
c.1629+1294A>T (n.1629+1294A>T)
n.2113A>T
c.1586T>A (p.Leu529Ter)
1g.54609363A=CA1142127715ACOT11,FAM151Ac.1663T= (p.Leu555=)
c.*251A= (n.*251A=)
c.1102T= (p.Leu368=)
c.1629+1295A= (n.1629+1295A=)
n.2114A=
c.1585T= (p.Leu529=)
1g.54609363A>CCA340441116ACOT11,FAM151Ac.1663T>G (p.Leu555Val)
c.*251A>C (n.*251A>C)
c.1102T>G (p.Leu368Val)
c.1629+1295A>C (n.1629+1295A>C)
n.2114A>C
c.1585T>G (p.Leu529Val)
1g.54609363A>GCA866848ACOT11,FAM151Ac.1663T>C (p.Leu555=)
c.*251A>G (n.*251A>G)
c.1102T>C (p.Leu368=)
c.1629+1295A>G (n.1629+1295A>G)
n.2114A>G
c.1585T>C (p.Leu529=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.54609363A>TCA340441120ACOT11,FAM151Ac.1663T>A (p.Leu555Met)
c.*251A>T (n.*251A>T)
c.1102T>A (p.Leu368Met)
c.1629+1295A>T (n.1629+1295A>T)
n.2114A>T
c.1585T>A (p.Leu529Met)
1g.54609364T>ACA418177273ACOT11,FAM151Ac.1662A>T (p.Ala554=)
c.*252T>A (n.*252T>A)
c.1101A>T (p.Ala367=)
c.1629+1296T>A (n.1629+1296T>A)
n.2115T>A
c.1584A>T (p.Ala528=)
1g.54609364T>CCA418177274ACOT11,FAM151Ac.1662A>G (p.Ala554=)
c.*252T>C (n.*252T>C)
c.1101A>G (p.Ala367=)
c.1629+1296T>C (n.1629+1296T>C)
n.2115T>C
c.1584A>G (p.Ala528=)
1g.54609364T>GCA418177275ACOT11,FAM151Ac.1662A>C (p.Ala554=)
c.*252T>G (n.*252T>G)
c.1101A>C (p.Ala367=)
c.1629+1296T>G (n.1629+1296T>G)
n.2115T>G
c.1584A>C (p.Ala528=)
dbSNP
1g.54609365G>ACA340441123ACOT11,FAM151Ac.1661C>T (p.Ala554Val)
c.*253G>A (n.*253G>A)
c.1100C>T (p.Ala367Val)
c.1629+1297G>A (n.1629+1297G>A)
n.2116G>A
c.1583C>T (p.Ala528Val)
1g.54609365G>CCA340441128ACOT11,FAM151Ac.1661C>G (p.Ala554Gly)
c.*253G>C (n.*253G>C)
c.1100C>G (p.Ala367Gly)
c.1629+1297G>C (n.1629+1297G>C)
n.2116G>C
c.1583C>G (p.Ala528Gly)
1g.54609365G>TCA340441130ACOT11,FAM151Ac.1661C>A (p.Ala554Glu)
c.*253G>T (n.*253G>T)
c.1100C>A (p.Ala367Glu)
c.1629+1297G>T (n.1629+1297G>T)
n.2116G>T
c.1583C>A (p.Ala528Glu)
1g.54609365_54609370delinsGCTGTCCA1167798448ACOT11,FAM151Ac.1656_1661delinsGACAGC (p.Arg552=)
c.*253_*258delinsGCTGTC (n.*253_*258delinsGCTGTC)
c.1095_1100delinsGACAGC (p.Arg365=)
c.1629+1297_1629+1302delinsGCTGTC (n.1629+1297_1629+1302delinsGCTGTC)
n.2116_2121delinsGCTGTC
c.1578_1583delinsGACAGC (p.Arg526=)
1g.54609366C>ACA340441141ACOT11,FAM151Ac.1660G>T (p.Ala554Ser)
c.*254C>A (n.*254C>A)
c.1099G>T (p.Ala367Ser)
c.1629+1298C>A (n.1629+1298C>A)
n.2117C>A
c.1582G>T (p.Ala528Ser)
1g.54609366C>GCA340441143ACOT11,FAM151Ac.1660G>C (p.Ala554Pro)
c.*254C>G (n.*254C>G)
c.1099G>C (p.Ala367Pro)
c.1629+1298C>G (n.1629+1298C>G)
n.2117C>G
c.1582G>C (p.Ala528Pro)
1g.54609366C>TCA340441144ACOT11,FAM151Ac.1660G>A (p.Ala554Thr)
c.*254C>T (n.*254C>T)
c.1099G>A (p.Ala367Thr)
c.1629+1298C>T (n.1629+1298C>T)
n.2117C>T
c.1582G>A (p.Ala528Thr)
1g.54609368_54609372delCA866849ACOT11,FAM151Ac.1656_1660del (p.Arg552SerfsTer6)
c.*256_*260del (n.*256_*260del)
c.1095_1099del (p.Arg365SerfsTer6)
c.1629+1300_1629+1304del (n.1629+1300_1629+1304del)
n.2119_2123del
c.1578_1582del (p.Arg526SerfsTer6)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609367T>ACA418177277ACOT11,FAM151Ac.1659A>T (p.Thr553=)
c.*255T>A (n.*255T>A)
c.1098A>T (p.Thr366=)
c.1629+1299T>A (n.1629+1299T>A)
n.2118T>A
c.1581A>T (p.Thr527=)
1g.54609367T>CCA418177276ACOT11,FAM151Ac.1659A>G (p.Thr553=)
c.*255T>C (n.*255T>C)
c.1098A>G (p.Thr366=)
c.1629+1299T>C (n.1629+1299T>C)
n.2118T>C
c.1581A>G (p.Thr527=)
1g.54609367T>GCA418177278ACOT11,FAM151Ac.1659A>C (p.Thr553=)
c.*255T>G (n.*255T>G)
c.1098A>C (p.Thr366=)
c.1629+1299T>G (n.1629+1299T>G)
n.2118T>G
c.1581A>C (p.Thr527=)
1g.54609368G>ACA340441147ACOT11,FAM151Ac.1658C>T (p.Thr553Ile)
c.*256G>A (n.*256G>A)
c.1097C>T (p.Thr366Ile)
c.1629+1300G>A (n.1629+1300G>A)
n.2119G>A
c.1580C>T (p.Thr527Ile)
gnomAD v4
1g.54609368G>CCA340441149ACOT11,FAM151Ac.1658C>G (p.Thr553Arg)
c.*256G>C (n.*256G>C)
c.1097C>G (p.Thr366Arg)
c.1629+1300G>C (n.1629+1300G>C)
n.2119G>C
c.1580C>G (p.Thr527Arg)
1g.54609368G>TCA340441150ACOT11,FAM151Ac.1658C>A (p.Thr553Lys)
c.*256G>T (n.*256G>T)
c.1097C>A (p.Thr366Lys)
c.1629+1300G>T (n.1629+1300G>T)
n.2119G>T
c.1580C>A (p.Thr527Lys)
1g.54609369T>ACA340441153ACOT11,FAM151Ac.1657A>T (p.Thr553Ser)
c.*257T>A (n.*257T>A)
c.1096A>T (p.Thr366Ser)
c.1629+1301T>A (n.1629+1301T>A)
n.2120T>A
c.1579A>T (p.Thr527Ser)
1g.54609369T>CCA340441154ACOT11,FAM151Ac.1657A>G (p.Thr553Ala)
c.*257T>C (n.*257T>C)
c.1096A>G (p.Thr366Ala)
c.1629+1301T>C (n.1629+1301T>C)
n.2120T>C
c.1579A>G (p.Thr527Ala)
1g.54609369T>GCA340441157ACOT11,FAM151Ac.1657A>C (p.Thr553Pro)
c.*257T>G (n.*257T>G)
c.1096A>C (p.Thr366Pro)
c.1629+1301T>G (n.1629+1301T>G)
n.2120T>G
c.1579A>C (p.Thr527Pro)
1g.54609369_54609370delinsTCCA1167798449ACOT11,FAM151Ac.1656_1657delinsGA (p.Arg552=)
c.*257_*258delinsTC (n.*257_*258delinsTC)
c.1095_1096delinsGA (p.Arg365=)
c.1629+1301_1629+1302delinsTC (n.1629+1301_1629+1302delinsTC)
n.2120_2121delinsTC
c.1578_1579delinsGA (p.Arg526=)
1g.54609370C>ACA340441159ACOT11,FAM151Ac.1656G>T (p.Arg552Ser)
c.*258C>A (n.*258C>A)
c.1095G>T (p.Arg365Ser)
c.1629+1302C>A (n.1629+1302C>A)
n.2121C>A
c.1578G>T (p.Arg526Ser)
dbSNP
1g.54609370C=CA1167798450ACOT11,FAM151Ac.1656G= (p.Arg552=)
c.*258C= (n.*258C=)
c.1095G= (p.Arg365=)
c.1629+1302C= (n.1629+1302C=)
n.2121C=
c.1578G= (p.Arg526=)
1g.54609370C>GCA340441161ACOT11,FAM151Ac.1656G>C (p.Arg552Ser)
c.*258C>G (n.*258C>G)
c.1095G>C (p.Arg365Ser)
c.1629+1302C>G (n.1629+1302C>G)
n.2121C>G
c.1578G>C (p.Arg526Ser)
1g.54609370C>TCA418177279ACOT11,FAM151Ac.1656G>A (p.Arg552=)
c.*258C>T (n.*258C>T)
c.1095G>A (p.Arg365=)
c.1629+1302C>T (n.1629+1302C>T)
n.2121C>T
c.1578G>A (p.Arg526=)
gnomAD v4
1g.54609371delCA523274612ACOT11,FAM151Ac.1656del (p.Thr553GlnfsTer?)
c.*259del (n.*259del)
c.1095del (p.Thr366GlnfsTer?)
c.1629+1303del (n.1629+1303del)
n.2122del
c.1578del (p.Thr527GlnfsTer?)
dbSNP gnomAD v2 gnomAD v4
1g.54609371C>ACA340441163ACOT11,FAM151Ac.1655G>T (p.Arg552Met)
c.*259C>A (n.*259C>A)
c.1094G>T (p.Arg365Met)
c.1629+1303C>A (n.1629+1303C>A)
n.2122C>A
c.1577G>T (p.Arg526Met)
1g.54609371C=CA1167798451ACOT11,FAM151Ac.1655G= (p.Arg552=)
c.*259C= (n.*259C=)
c.1094G= (p.Arg365=)
c.1629+1303C= (n.1629+1303C=)
n.2122C=
c.1577G= (p.Arg526=)
1g.54609371C>GCA340441166ACOT11,FAM151Ac.1655G>C (p.Arg552Thr)
c.*259C>G (n.*259C>G)
c.1094G>C (p.Arg365Thr)
c.1629+1303C>G (n.1629+1303C>G)
n.2122C>G
c.1577G>C (p.Arg526Thr)
1g.54609371C>TCA340441174ACOT11,FAM151Ac.1655G>A (p.Arg552Lys)
c.*259C>T (n.*259C>T)
c.1094G>A (p.Arg365Lys)
c.1629+1303C>T (n.1629+1303C>T)
n.2122C>T
c.1577G>A (p.Arg526Lys)
dbSNP gnomAD v2
1g.54609372T>ACA340441178ACOT11,FAM151Ac.1654A>T (p.Arg552Trp)
c.*260T>A (n.*260T>A)
c.1093A>T (p.Arg365Trp)
c.1629+1304T>A (n.1629+1304T>A)
n.2123T>A
c.1576A>T (p.Arg526Trp)
1g.54609372T>CCA340441180ACOT11,FAM151Ac.1654A>G (p.Arg552Gly)
c.*260T>C (n.*260T>C)
c.1093A>G (p.Arg365Gly)
c.1629+1304T>C (n.1629+1304T>C)
n.2123T>C
c.1576A>G (p.Arg526Gly)
1g.54609372T>GCA418177280ACOT11,FAM151Ac.1654A>C (p.Arg552=)
c.*260T>G (n.*260T>G)
c.1093A>C (p.Arg365=)
c.1629+1304T>G (n.1629+1304T>G)
n.2123T>G
c.1576A>C (p.Arg526=)
1g.54609372_54609374delinsTCACA1167798452ACOT11,FAM151Ac.1652_1654delinsTGA (p.Val551=)
c.*260_*262delinsTCA (n.*260_*262delinsTCA)
c.1091_1093delinsTGA (p.Val364=)
c.1629+1304_1629+1306delinsTCA (n.1629+1304_1629+1306delinsTCA)
n.2123_2125delinsTCA
c.1574_1576delinsTGA (p.Val525=)
1g.54609373C>ACA418177281ACOT11,FAM151Ac.1653G>T (p.Val551=)
c.*261C>A (n.*261C>A)
c.1092G>T (p.Val364=)
c.1629+1305C>A (n.1629+1305C>A)
n.2124C>A
c.1575G>T (p.Val525=)
1g.54609373C=CA1167798453ACOT11,FAM151Ac.1653G= (p.Val551=)
c.*261C= (n.*261C=)
c.1092G= (p.Val364=)
c.1629+1305C= (n.1629+1305C=)
n.2124C=
c.1575G= (p.Val525=)
1g.54609373C>GCA418177283ACOT11,FAM151Ac.1653G>C (p.Val551=)
c.*261C>G (n.*261C>G)
c.1092G>C (p.Val364=)
c.1629+1305C>G (n.1629+1305C>G)
n.2124C>G
c.1575G>C (p.Val525=)
1g.54609373C>TCA418177282ACOT11,FAM151Ac.1653G>A (p.Val551=)
c.*261C>T (n.*261C>T)
c.1092G>A (p.Val364=)
c.1629+1305C>T (n.1629+1305C>T)
n.2124C>T
c.1575G>A (p.Val525=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.54609375_54609376delCA22715398ACOT11,FAM151Ac.1652_1653del (p.Val551GlufsTer8)
c.*263_*264del (n.*263_*264del)
c.1091_1092del (p.Val364GlufsTer8)
c.1629+1307_1629+1308del (n.1629+1307_1629+1308del)
n.2126_2127del
c.1574_1575del (p.Val525GlufsTer8)
dbSNP gnomAD v2 gnomAD v4
1g.54609374A>CCA340441187ACOT11,FAM151Ac.1652T>G (p.Val551Gly)
c.*262A>C (n.*262A>C)
c.1091T>G (p.Val364Gly)
c.1629+1306A>C (n.1629+1306A>C)
n.2125A>C
c.1574T>G (p.Val525Gly)
1g.54609374A>GCA340441183ACOT11,FAM151Ac.1652T>C (p.Val551Ala)
c.*262A>G (n.*262A>G)
c.1091T>C (p.Val364Ala)
c.1629+1306A>G (n.1629+1306A>G)
n.2125A>G
c.1574T>C (p.Val525Ala)
1g.54609374A>TCA340441185ACOT11,FAM151Ac.1652T>A (p.Val551Glu)
c.*262A>T (n.*262A>T)
c.1091T>A (p.Val364Glu)
c.1629+1306A>T (n.1629+1306A>T)
n.2125A>T
c.1574T>A (p.Val525Glu)
1g.54609374dupCA2645794464ACOT11,FAM151Ac.1652dup (p.Arg552GlufsTer8)
c.*262dup (n.*262dup)
c.1091dup (p.Arg365GlufsTer8)
c.1629+1306dup (n.1629+1306dup)
n.2125dup
c.1574dup (p.Arg526GlufsTer8)
gnomAD v4
1g.54609375C>ACA340441189ACOT11,FAM151Ac.1651G>T (p.Val551Leu)
c.*263C>A (n.*263C>A)
c.1090G>T (p.Val364Leu)
c.1629+1307C>A (n.1629+1307C>A)
n.2126C>A
c.1573G>T (p.Val525Leu)
1g.54609375C>GCA340441190ACOT11,FAM151Ac.1651G>C (p.Val551Leu)
c.*263C>G (n.*263C>G)
c.1090G>C (p.Val364Leu)
c.1629+1307C>G (n.1629+1307C>G)
n.2126C>G
c.1573G>C (p.Val525Leu)
gnomAD v4
1g.54609375C>TCA340441191ACOT11,FAM151Ac.1651G>A (p.Val551Met)
c.*263C>T (n.*263C>T)
c.1090G>A (p.Val364Met)
c.1629+1307C>T (n.1629+1307C>T)
n.2126C>T
c.1573G>A (p.Val525Met)
1g.54609375_54609377delinsCAGCA1167798454ACOT11,FAM151Ac.1649_1651delinsCTG (p.Ser550=)
c.*263_*265delinsCAG (n.*263_*265delinsCAG)
c.1088_1090delinsCTG (p.Ser363=)
c.1629+1307_1629+1309delinsCAG (n.1629+1307_1629+1309delinsCAG)
n.2126_2128delinsCAG
c.1571_1573delinsCTG (p.Ser524=)
1g.54609376A>CCA418177284ACOT11,FAM151Ac.1650T>G (p.Ser550=)
c.*264A>C (n.*264A>C)
c.1089T>G (p.Ser363=)
c.1629+1308A>C (n.1629+1308A>C)
n.2127A>C
c.1572T>G (p.Ser524=)
1g.54609376A>GCA418177285ACOT11,FAM151Ac.1650T>C (p.Ser550=)
c.*264A>G (n.*264A>G)
c.1089T>C (p.Ser363=)
c.1629+1308A>G (n.1629+1308A>G)
n.2127A>G
c.1572T>C (p.Ser524=)
gnomAD v4
1g.54609376A>TCA418177286ACOT11,FAM151Ac.1650T>A (p.Ser550=)
c.*264A>T (n.*264A>T)
c.1089T>A (p.Ser363=)
c.1629+1308A>T (n.1629+1308A>T)
n.2127A>T
c.1572T>A (p.Ser524=)
1g.54609378_54609379delCA523274613ACOT11,FAM151Ac.1649_1650del (p.Ser550CysfsTer9)
c.*266_*267del (n.*266_*267del)
c.1088_1089del (p.Ser363CysfsTer9)
c.1629+1310_1629+1311del (n.1629+1310_1629+1311del)
n.2129_2130del
c.1571_1572del (p.Ser524CysfsTer9)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched