Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.54609294A= | CA1143425286 | ACOT11,FAM151A | c.1732T= (p.Leu578=) c.*182A= (n.*182A=) c.1171T= (p.Leu391=) c.1629+1226A= (n.1629+1226A=) n.2045A= c.1654T= (p.Leu552=) | |
1 | g.54609294A>C | CA866832 | ACOT11,FAM151A | c.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 |
1 | g.54609294A>G | CA418177226 | ACOT11,FAM151A | c.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=) | |
1 | g.54609294A>T | CA340440732 | ACOT11,FAM151A | c.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) | |
1 | g.54609295G>A | CA418177227 | ACOT11,FAM151A | c.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 |
1 | g.54609295G>C | CA340440734 | ACOT11,FAM151A | c.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 |
1 | g.54609295G= | CA1167798416 | ACOT11,FAM151A | c.1731C= (p.Asp577=) c.*183G= (n.*183G=) c.1170C= (p.Asp390=) c.1629+1227G= (n.1629+1227G=) n.2046G= c.1653C= (p.Asp551=) | |
1 | g.54609295G>T | CA340440736 | ACOT11,FAM151A | c.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) | |
1 | g.54609296T>A | CA340440740 | ACOT11,FAM151A | c.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) | |
1 | g.54609296T>C | CA340440741 | ACOT11,FAM151A | c.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 |
1 | g.54609296T>G | CA340440743 | ACOT11,FAM151A | c.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) | |
1 | g.54609296_54609297delinsTC | CA1167798417 | ACOT11,FAM151A | c.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=) | |
1 | g.54609297C>A | CA340440745 | ACOT11,FAM151A | c.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) | |
1 | g.54609297C= | CA1167798418 | ACOT11,FAM151A | c.1729G= (p.Asp577=) c.*185C= (n.*185C=) c.1168G= (p.Asp390=) c.1629+1229C= (n.1629+1229C=) n.2048C= c.1651G= (p.Asp551=) | |
1 | g.54609297C>G | CA340440748 | ACOT11,FAM151A | c.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) | |
1 | g.54609297C>T | CA22715347 | ACOT11,FAM151A | c.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 |
1 | g.54609298del | CA1001886534 | ACOT11,FAM151A | c.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 |
1 | g.54609298C>A | CA340440758 | ACOT11,FAM151A | c.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) | |
1 | g.54609298C= | CA1167798419 | ACOT11,FAM151A | c.1728G= (p.Lys576=) c.*186C= (n.*186C=) c.1167G= (p.Lys389=) c.1629+1230C= (n.1629+1230C=) n.2049C= c.1650G= (p.Lys550=) | |
1 | g.54609298C>G | CA340440756 | ACOT11,FAM151A | c.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) | |
1 | g.54609298C>T | CA418177228 | ACOT11,FAM151A | c.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 |
1 | g.54609298_54609299delinsCT | CA1167798420 | ACOT11,FAM151A | c.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=) | |
1 | g.54609299T>A | CA340440761 | ACOT11,FAM151A | c.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) | |
1 | g.54609299T>C | CA340440764 | ACOT11,FAM151A | c.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) | |
1 | g.54609299T>G | CA340440765 | ACOT11,FAM151A | c.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) | |
1 | g.54609300del | CA523274609 | ACOT11,FAM151A | c.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 |
1 | g.54609300T>A | CA340440768 | ACOT11,FAM151A | c.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) | |
1 | g.54609300T>C | CA340440771 | ACOT11,FAM151A | c.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) | |
1 | g.54609300T>G | CA340440773 | ACOT11,FAM151A | c.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) | |
1 | g.54609300T= | CA1167798421 | ACOT11,FAM151A | c.1726A= (p.Lys576=) c.*188T= (n.*188T=) c.1165A= (p.Lys389=) c.1629+1232T= (n.1629+1232T=) n.2051T= c.1648A= (p.Lys550=) | |
1 | g.54609301G>A | CA418177229 | ACOT11,FAM151A | c.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=) | |
1 | g.54609301G>C | CA340440776 | ACOT11,FAM151A | c.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 |
1 | g.54609301G>T | CA340440779 | ACOT11,FAM151A | c.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 |
1 | g.54609301_54609302delinsGT | CA1167798422 | ACOT11,FAM151A | c.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=) | |
1 | g.54609302_54609333dup | CA1001886549 | ACOT11,FAM151A | c.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 |
1 | g.54609303_54609336del | CA2645794456 | ACOT11,FAM151A | c.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 |
1 | g.54609302del | CA523274610 | ACOT11,FAM151A | c.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 |
1 | g.54609302T>A | CA340440782 | ACOT11,FAM151A | c.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) | |
1 | g.54609302T>C | CA866833 | ACOT11,FAM151A | c.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 |
1 | g.54609302T>G | CA340440785 | ACOT11,FAM151A | c.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) | |
1 | g.54609302T= | CA1167798423 | ACOT11,FAM151A | c.1724A= (p.His575=) c.*190T= (n.*190T=) c.1163A= (p.His388=) c.1629+1234T= (n.1629+1234T=) n.2053T= c.1646A= (p.His549=) | |
1 | g.54609303G>A | CA340440789 | ACOT11,FAM151A | c.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 |
1 | g.54609303G>C | CA340440791 | ACOT11,FAM151A | c.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) | |
1 | g.54609303G= | CA1167798424 | ACOT11,FAM151A | c.1723C= (p.His575=) c.*191G= (n.*191G=) c.1162C= (p.His388=) c.1629+1235G= (n.1629+1235G=) n.2054G= c.1645C= (p.His549=) | |
1 | g.54609303G>T | CA340440792 | ACOT11,FAM151A | c.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) | |
1 | g.54609310_54609320dup | CA2645794457 | ACOT11,FAM151A | c.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 |
1 | g.54609310_54609320del | CA2645794458 | ACOT11,FAM151A | c.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 |
1 | g.54609304G>A | CA418177230 | ACOT11,FAM151A | c.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 |
1 | g.54609304G>C | CA340440795 | ACOT11,FAM151A | c.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) | |
1 | g.54609304G= | CA1167798425 | ACOT11,FAM151A | c.1722C= (p.Tyr574=) c.*192G= (n.*192G=) c.1161C= (p.Tyr387=) c.1629+1236G= (n.1629+1236G=) n.2055G= c.1644C= (p.Tyr548=) | |
1 | g.54609304G>T | CA340440804 | ACOT11,FAM151A | c.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) | |
1 | g.54609305T>A | CA866834 | ACOT11,FAM151A | c.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 |
1 | g.54609305T>C | CA340440809 | ACOT11,FAM151A | c.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) | |
1 | g.54609305T>G | CA340440812 | ACOT11,FAM151A | c.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) | |
1 | g.54609305T= | CA1143371353 | ACOT11,FAM151A | c.1721A= (p.Tyr574=) c.*193T= (n.*193T=) c.1160A= (p.Tyr387=) c.1629+1237T= (n.1629+1237T=) n.2056T= c.1643A= (p.Tyr548=) | |
1 | g.54609306A>C | CA340440814 | ACOT11,FAM151A | c.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) | |
1 | g.54609306A>G | CA340440817 | ACOT11,FAM151A | c.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) | |
1 | g.54609306A>T | CA340440819 | ACOT11,FAM151A | c.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) | |
1 | g.54609307G>A | CA866835 | ACOT11,FAM151A | c.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 |
1 | g.54609307G>C | CA418177231 | ACOT11,FAM151A | c.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 |
1 | g.54609307G= | CA1167798426 | ACOT11,FAM151A | c.1719C= (p.Gly573=) c.*195G= (n.*195G=) c.1158C= (p.Gly386=) c.1629+1239G= (n.1629+1239G=) n.2058G= c.1641C= (p.Gly547=) | |
1 | g.54609307G>T | CA418177232 | ACOT11,FAM151A | c.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=) | |
1 | g.54609308C>A | CA340440823 | ACOT11,FAM151A | c.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) | |
1 | g.54609308C= | CA1167798427 | ACOT11,FAM151A | c.1718G= (p.Gly573=) c.*196C= (n.*196C=) c.1157G= (p.Gly386=) c.1629+1240C= (n.1629+1240C=) n.2059C= c.1640G= (p.Gly547=) | |
1 | g.54609308C>G | CA340440824 | ACOT11,FAM151A | c.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) | |
1 | g.54609308C>T | CA340440825 | ACOT11,FAM151A | c.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 |
1 | g.54609309C>A | CA340440826 | ACOT11,FAM151A | c.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) | |
1 | g.54609309C= | CA1167798428 | ACOT11,FAM151A | c.1717G= (p.Gly573=) c.*197C= (n.*197C=) c.1156G= (p.Gly386=) c.1629+1241C= (n.1629+1241C=) n.2060C= c.1639G= (p.Gly547=) | |
1 | g.54609309C>G | CA22715353 | ACOT11,FAM151A | c.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 |
1 | g.54609309C>T | CA340440827 | ACOT11,FAM151A | c.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) | |
1 | g.54609310C>A | CA340440828 | ACOT11,FAM151A | c.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) | |
1 | g.54609310C>G | CA340440831 | ACOT11,FAM151A | c.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) | |
1 | g.54609310C>T | CA418177233 | ACOT11,FAM151A | c.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=) | |
1 | g.54609311T>A | CA340440834 | ACOT11,FAM151A | c.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) | |
1 | g.54609311T>C | CA340440839 | ACOT11,FAM151A | c.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 |
1 | g.54609311T>G | CA340440836 | ACOT11,FAM151A | c.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) | |
1 | g.54609312G>A | CA340440842 | ACOT11,FAM151A | c.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) | |
1 | g.54609312G>C | CA340440849 | ACOT11,FAM151A | c.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) | |
1 | g.54609312G>T | CA340440851 | ACOT11,FAM151A | c.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) | |
1 | g.54609312_54609332delinsGGGGTAGCCTGTAGTAGACTC | CA1167798429 | ACOT11,FAM151A | c.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=) | |
1 | g.54609313G>A | CA418177234 | ACOT11,FAM151A | c.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=) | |
1 | g.54609313G>C | CA418177235 | ACOT11,FAM151A | c.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=) | |
1 | g.54609313G= | CA1149153173 | ACOT11,FAM151A | c.1713C= (p.Pro571=) c.*201G= (n.*201G=) c.1152C= (p.Pro384=) c.1629+1245G= (n.1629+1245G=) n.2064G= c.1635C= (p.Pro545=) | |
1 | g.54609313G>T | CA866837 | ACOT11,FAM151A | c.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 |
1 | g.54609317_54609336del | CA866836 | ACOT11,FAM151A | c.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 |
1 | g.54609314G>A | CA340440860 | ACOT11,FAM151A | c.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) | |
1 | g.54609314G>C | CA340440861 | ACOT11,FAM151A | c.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) | |
1 | g.54609314G>T | CA340440862 | ACOT11,FAM151A | c.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) | |
1 | g.54609314_54609324delinsGGTAGCCTGTA | CA1167798430 | ACOT11,FAM151A | c.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=) | |
1 | g.54609315G>A | CA340440864 | ACOT11,FAM151A | c.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 |
1 | g.54609315G>C | CA340440866 | ACOT11,FAM151A | c.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) | |
1 | g.54609315G= | CA1167798431 | ACOT11,FAM151A | c.1711C= (p.Pro571=) c.*203G= (n.*203G=) c.1150C= (p.Pro384=) c.1629+1247G= (n.1629+1247G=) n.2066G= c.1633C= (p.Pro545=) | |
1 | g.54609315G>T | CA340440869 | ACOT11,FAM151A | c.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 |
1 | g.54609319_54609328del | CA523274611 | ACOT11,FAM151A | c.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 |
1 | g.54609316T>A | CA418177236 | ACOT11,FAM151A | c.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=) | |
1 | g.54609316T>C | CA866838 | ACOT11,FAM151A | c.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 |
1 | g.54609316T>G | CA418177237 | ACOT11,FAM151A | c.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 |
1 | g.54609316T= | CA1142396874 | ACOT11,FAM151A | c.1710A= (p.Leu570=) c.*204T= (n.*204T=) c.1149A= (p.Leu383=) c.1629+1248T= (n.1629+1248T=) n.2067T= c.1632A= (p.Leu544=) | |
1 | g.54609317A>C | CA340440873 | ACOT11,FAM151A | c.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) | |
1 | g.54609317A>G | CA340440884 | ACOT11,FAM151A | c.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) | |
1 | g.54609317A>T | CA340440876 | ACOT11,FAM151A | c.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) | |
1 | g.54609318G>A | CA418177238 | ACOT11,FAM151A | c.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=) | |
1 | g.54609318G>C | CA340440887 | ACOT11,FAM151A | c.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) | |
1 | g.54609318G>T | CA340440888 | ACOT11,FAM151A | c.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) | |
1 | g.54609319C>A | CA340440890 | ACOT11,FAM151A | c.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) | |
1 | g.54609319C= | CA1167798433 | ACOT11,FAM151A | c.1707G= (p.Arg569=) c.*207C= (n.*207C=) c.1146G= (p.Arg382=) c.1629+1251C= (n.1629+1251C=) n.2070C= c.1629G= (p.Arg543=) | |
1 | g.54609319C>G | CA340440892 | ACOT11,FAM151A | c.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 |
1 | g.54609319C>T | CA418177239 | ACOT11,FAM151A | c.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=) | |
1 | g.54609319_54609329delinsCCTGTAGTAGA | CA1167798432 | ACOT11,FAM151A | c.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=) | |
1 | g.54609320C>A | CA340440895 | ACOT11,FAM151A | c.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) | |
1 | g.54609320C>G | CA340440897 | ACOT11,FAM151A | c.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) | |
1 | g.54609320C>T | CA340440900 | ACOT11,FAM151A | c.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) | |
1 | g.54609322_54609331del | CA866839 | ACOT11,FAM151A | c.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 |
1 | g.54609320_54609321insCACCCCATCTATTTTCTCCAGAGCAGGCT | CA2645794459 | ACOT11,FAM151A | c.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 |
1 | g.54609321T>A | CA340440905 | ACOT11,FAM151A | c.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) | |
1 | g.54609321T>C | CA340440907 | ACOT11,FAM151A | c.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) | |
1 | g.54609321T>G | CA418177240 | ACOT11,FAM151A | c.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=) | |
1 | g.54609322G>A | CA418177241 | ACOT11,FAM151A | c.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=) | |
1 | g.54609322G>C | CA340440911 | ACOT11,FAM151A | c.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) | |
1 | g.54609322G>T | CA340440909 | ACOT11,FAM151A | c.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) | |
1 | g.54609323T>A | CA340440913 | ACOT11,FAM151A | c.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) | |
1 | g.54609323T>C | CA340440915 | ACOT11,FAM151A | c.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 |
1 | g.54609323T>G | CA340440920 | ACOT11,FAM151A | c.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) | |
1 | g.54609323T= | CA1167798434 | ACOT11,FAM151A | c.1703A= (p.Tyr568=) c.*211T= (n.*211T=) c.1142A= (p.Tyr381=) c.1629+1255T= (n.1629+1255T=) n.2074T= c.1625A= (p.Tyr542=) | |
1 | g.54609324A= | CA1167798435 | ACOT11,FAM151A | c.1702T= (p.Tyr568=) c.*212A= (n.*212A=) c.1141T= (p.Tyr381=) c.1629+1256A= (n.1629+1256A=) n.2075A= c.1624T= (p.Tyr542=) | |
1 | g.54609324A>C | CA340440923 | ACOT11,FAM151A | c.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) | |
1 | g.54609324A>G | CA340440926 | ACOT11,FAM151A | c.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 |
1 | g.54609324A>T | CA340440928 | ACOT11,FAM151A | c.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) | |
1 | g.54609325_54609326insCTCTTTATACATGGTCTTCCTGCTGAAG | CA2645794460 | ACOT11,FAM151A | c.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 |
1 | g.54609325G>A | CA418177242 | ACOT11,FAM151A | c.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=) | |
1 | g.54609325G>C | CA340440933 | ACOT11,FAM151A | c.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) | |
1 | g.54609325G>T | CA340440930 | ACOT11,FAM151A | c.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) | |
1 | g.54609326T>A | CA340440934 | ACOT11,FAM151A | c.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) | |
1 | g.54609326T>C | CA340440936 | ACOT11,FAM151A | c.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 |
1 | g.54609326T>G | CA340440938 | ACOT11,FAM151A | c.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) | |
1 | g.54609326T= | CA1167798436 | ACOT11,FAM151A | c.1700A= (p.Tyr567=) c.*214T= (n.*214T=) c.1139A= (p.Tyr380=) c.1629+1258T= (n.1629+1258T=) n.2077T= c.1622A= (p.Tyr541=) | |
1 | g.54609327A>C | CA340440939 | ACOT11,FAM151A | c.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) | |
1 | g.54609327A>G | CA340440941 | ACOT11,FAM151A | c.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) | |
1 | g.54609327A>T | CA340440944 | ACOT11,FAM151A | c.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) | |
1 | g.54609328G>A | CA418177243 | ACOT11,FAM151A | c.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 |
1 | g.54609328G>C | CA418177244 | ACOT11,FAM151A | c.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=) | |
1 | g.54609328G>T | CA418177245 | ACOT11,FAM151A | c.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=) | |
1 | g.54609329A>C | CA340440945 | ACOT11,FAM151A | c.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) | |
1 | g.54609329A>G | CA340440951 | ACOT11,FAM151A | c.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) | |
1 | g.54609329A>T | CA340440948 | ACOT11,FAM151A | c.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) | |
1 | g.54609330C>A | CA340440954 | ACOT11,FAM151A | c.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) | |
1 | g.54609330C= | CA1167798437 | ACOT11,FAM151A | c.1696G= (p.Val566=) c.*218C= (n.*218C=) c.1135G= (p.Val379=) c.1629+1262C= (n.1629+1262C=) n.2081C= c.1618G= (p.Val540=) | |
1 | g.54609330C>G | CA340440956 | ACOT11,FAM151A | c.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) | |
1 | g.54609330C>T | CA340440961 | ACOT11,FAM151A | c.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 |
1 | g.54609331T>A | CA418177246 | ACOT11,FAM151A | c.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=) | |
1 | g.54609331T>C | CA418177248 | ACOT11,FAM151A | c.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=) | |
1 | g.54609331T>G | CA418177247 | ACOT11,FAM151A | c.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=) | |
1 | g.54609332C>A | CA340440963 | ACOT11,FAM151A | c.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) | |
1 | g.54609332C= | CA1143437576 | ACOT11,FAM151A | c.1694G= (p.Arg565=) c.*220C= (n.*220C=) c.1133G= (p.Arg378=) c.1629+1264C= (n.1629+1264C=) n.2083C= c.1616G= (p.Arg539=) | |
1 | g.54609332C>G | CA340440965 | ACOT11,FAM151A | c.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) | |
1 | g.54609332C>T | CA866840 | ACOT11,FAM151A | c.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 |
1 | g.54609333G>A | CA866841 | ACOT11,FAM151A | c.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 |
1 | g.54609333G>C | CA340440969 | ACOT11,FAM151A | c.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 |
1 | g.54609333G= | CA1142002603 | ACOT11,FAM151A | c.1693C= (p.Arg565=) c.*221G= (n.*221G=) c.1132C= (p.Arg378=) c.1629+1265G= (n.1629+1265G=) n.2084G= c.1615C= (p.Arg539=) | |
1 | g.54609333G>T | CA418177249 | ACOT11,FAM151A | c.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 |
1 | g.54609334G>A | CA418177250 | ACOT11,FAM151A | c.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 |
1 | g.54609334G>C | CA418177251 | ACOT11,FAM151A | c.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=) | |
1 | g.54609334G>T | CA418177252 | ACOT11,FAM151A | c.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=) | |
1 | g.54609335G>A | CA340440972 | ACOT11,FAM151A | c.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 |
1 | g.54609335G>C | CA340440974 | ACOT11,FAM151A | c.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) | |
1 | g.54609335G= | CA1167798438 | ACOT11,FAM151A | c.1691C= (p.Thr564=) c.*223G= (n.*223G=) c.1130C= (p.Thr377=) c.1629+1267G= (n.1629+1267G=) n.2086G= c.1613C= (p.Thr538=) | |
1 | g.54609335G>T | CA340440976 | ACOT11,FAM151A | c.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 |
1 | g.54609336T>A | CA340440984 | ACOT11,FAM151A | c.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) | |
1 | g.54609336T>C | CA340440983 | ACOT11,FAM151A | c.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) | |
1 | g.54609336T>G | CA340440980 | ACOT11,FAM151A | c.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 |
1 | g.54609336T= | CA1167798439 | ACOT11,FAM151A | c.1690A= (p.Thr564=) c.*224T= (n.*224T=) c.1129A= (p.Thr377=) c.1629+1268T= (n.1629+1268T=) n.2087T= c.1612A= (p.Thr538=) | |
1 | g.54609337C>A | CA340440986 | ACOT11,FAM151A | c.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 |
1 | g.54609337C= | CA1147507182 | ACOT11,FAM151A | c.1689G= (p.Arg563=) c.*225C= (n.*225C=) c.1128G= (p.Arg376=) c.1629+1269C= (n.1629+1269C=) n.2088C= c.1611G= (p.Arg537=) | |
1 | g.54609337C>G | CA340440991 | ACOT11,FAM151A | c.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) | |
1 | g.54609337C>T | CA866842 | ACOT11,FAM151A | c.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 |
1 | g.54609338C>A | CA340440992 | ACOT11,FAM151A | c.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) | |
1 | g.54609338C= | CA1167798440 | ACOT11,FAM151A | c.1688G= (p.Arg563=) c.*226C= (n.*226C=) c.1127G= (p.Arg376=) c.1629+1270C= (n.1629+1270C=) n.2089C= c.1610G= (p.Arg537=) | |
1 | g.54609338C>G | CA340440995 | ACOT11,FAM151A | c.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) | |
1 | g.54609338C>T | CA866843 | ACOT11,FAM151A | c.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 |
1 | g.54609339T>A | CA340440997 | ACOT11,FAM151A | c.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) | |
1 | g.54609339T>C | CA340440998 | ACOT11,FAM151A | c.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 |
1 | g.54609339T>G | CA418177253 | ACOT11,FAM151A | c.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=) | |
1 | g.54609340_54609341del | CA2645794461 | ACOT11,FAM151A | c.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 |
1 | g.54609340G>A | CA418177254 | ACOT11,FAM151A | c.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=) | |
1 | g.54609340G>C | CA340441002 | ACOT11,FAM151A | c.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) | |
1 | g.54609340G>T | CA340441004 | ACOT11,FAM151A | c.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 |
1 | g.54609341T>A | CA340441006 | ACOT11,FAM151A | c.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) | |
1 | g.54609341T>C | CA340441008 | ACOT11,FAM151A | c.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 |
1 | g.54609341T>G | CA340441010 | ACOT11,FAM151A | c.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) | |
1 | g.54609341T= | CA1167798441 | ACOT11,FAM151A | c.1685A= (p.Asp562=) c.*229T= (n.*229T=) c.1124A= (p.Asp375=) c.1629+1273T= (n.1629+1273T=) n.2092T= c.1607A= (p.Asp536=) | |
1 | g.54609342C>A | CA340441011 | ACOT11,FAM151A | c.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) | |
1 | g.54609342C>G | CA340441014 | ACOT11,FAM151A | c.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) | |
1 | g.54609342C>T | CA340441017 | ACOT11,FAM151A | c.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) | |
1 | g.54609344_54609350del | CA2645794462 | ACOT11,FAM151A | c.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 |
1 | g.54609343C>A | CA418177255 | ACOT11,FAM151A | c.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=) | |
1 | g.54609343C>G | CA418177256 | ACOT11,FAM151A | c.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=) | |
1 | g.54609343C>T | CA418177257 | ACOT11,FAM151A | c.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=) | |
1 | g.54609344A>C | CA340441018 | ACOT11,FAM151A | c.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) | |
1 | g.54609344A>G | CA340441020 | ACOT11,FAM151A | c.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) | |
1 | g.54609344A>T | CA340441023 | ACOT11,FAM151A | c.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) | |
1 | g.54609345C>A | CA340441027 | ACOT11,FAM151A | c.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) | |
1 | g.54609345C= | CA1148876740 | ACOT11,FAM151A | c.1681G= (p.Val561=) c.*233C= (n.*233C=) c.1120G= (p.Val374=) c.1629+1277C= (n.1629+1277C=) n.2096C= c.1603G= (p.Val535=) | |
1 | g.54609345C>G | CA340441030 | ACOT11,FAM151A | c.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) | |
1 | g.54609345C>T | CA866844 | ACOT11,FAM151A | c.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 |
1 | g.54609346A>C | CA418177258 | ACOT11,FAM151A | c.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=) | |
1 | g.54609346A>G | CA418177259 | ACOT11,FAM151A | c.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=) | |
1 | g.54609346A>T | CA418177260 | ACOT11,FAM151A | c.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=) | |
1 | g.54609347G>A | CA340441034 | ACOT11,FAM151A | c.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 |
1 | g.54609347G>C | CA22715393 | ACOT11,FAM151A | c.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 |
1 | g.54609347G= | CA1143473541 | ACOT11,FAM151A | c.1679C= (p.Ala560=) c.*235G= (n.*235G=) c.1118C= (p.Ala373=) c.1629+1279G= (n.1629+1279G=) n.2098G= c.1601C= (p.Ala534=) | |
1 | g.54609347G>T | CA340441037 | ACOT11,FAM151A | c.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) | |
1 | g.54609348C>A | CA340441041 | ACOT11,FAM151A | c.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) | |
1 | g.54609348C= | CA1167798442 | ACOT11,FAM151A | c.1678G= (p.Ala560=) c.*236C= (n.*236C=) c.1117G= (p.Ala373=) c.1629+1280C= (n.1629+1280C=) n.2099C= c.1600G= (p.Ala534=) | |
1 | g.54609348C>G | CA866845 | ACOT11,FAM151A | c.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 |
1 | g.54609348C>T | CA340441044 | ACOT11,FAM151A | c.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) | |
1 | g.54609349C>A | CA340441047 | ACOT11,FAM151A | c.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) | |
1 | g.54609349C>G | CA340441048 | ACOT11,FAM151A | c.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) | |
1 | g.54609349C>T | CA418177261 | ACOT11,FAM151A | c.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=) | |
1 | g.54609350C>A | CA340441051 | ACOT11,FAM151A | c.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 |
1 | g.54609350C= | CA1167798443 | ACOT11,FAM151A | c.1676G= (p.Arg559=) c.*238C= (n.*238C=) c.1115G= (p.Arg372=) c.1629+1282C= (n.1629+1282C=) n.2101C= c.1598G= (p.Arg533=) | |
1 | g.54609350C>G | CA340441052 | ACOT11,FAM151A | c.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 |
1 | g.54609350C>T | CA340441054 | ACOT11,FAM151A | c.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 |
1 | g.54609351T>A | CA340441058 | ACOT11,FAM151A | c.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) | |
1 | g.54609351T>C | CA340441057 | ACOT11,FAM151A | c.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) | |
1 | g.54609351T>G | CA418177262 | ACOT11,FAM151A | c.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=) | |
1 | g.54609352A>C | CA418177263 | ACOT11,FAM151A | c.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=) | |
1 | g.54609352A>G | CA418177264 | ACOT11,FAM151A | c.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=) | |
1 | g.54609352A>T | CA418177265 | ACOT11,FAM151A | c.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=) | |
1 | g.54609353G>A | CA340441061 | ACOT11,FAM151A | c.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 |
1 | g.54609353G>C | CA340441063 | ACOT11,FAM151A | c.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) | |
1 | g.54609353G= | CA1167798444 | ACOT11,FAM151A | c.1673C= (p.Ala558=) c.*241G= (n.*241G=) c.1112C= (p.Ala371=) c.1629+1285G= (n.1629+1285G=) n.2104G= c.1595C= (p.Ala532=) | |
1 | g.54609353G>T | CA340441064 | ACOT11,FAM151A | c.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) | |
1 | g.54609354C>A | CA340441068 | ACOT11,FAM151A | c.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) | |
1 | g.54609354C= | CA1167798445 | ACOT11,FAM151A | c.1672G= (p.Ala558=) c.*242C= (n.*242C=) c.1111G= (p.Ala371=) c.1629+1286C= (n.1629+1286C=) n.2105C= c.1594G= (p.Ala532=) | |
1 | g.54609354C>G | CA340441070 | ACOT11,FAM151A | c.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 |
1 | g.54609354C>T | CA340441072 | ACOT11,FAM151A | c.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 |
1 | g.54609355T>A | CA418177266 | ACOT11,FAM151A | c.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=) | |
1 | g.54609355T>C | CA418177267 | ACOT11,FAM151A | c.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 |
1 | g.54609355T>G | CA418177268 | ACOT11,FAM151A | c.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=) | |
1 | g.54609356G>A | CA340441075 | ACOT11,FAM151A | c.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 |
1 | g.54609356G>C | CA340441077 | ACOT11,FAM151A | c.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) | |
1 | g.54609356G= | CA1167798446 | ACOT11,FAM151A | c.1670C= (p.Ala557=) c.*244G= (n.*244G=) c.1109C= (p.Ala370=) c.1629+1288G= (n.1629+1288G=) n.2107G= c.1592C= (p.Ala531=) | |
1 | g.54609356G>T | CA866846 | ACOT11,FAM151A | c.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 |
1 | g.54609357C>A | CA340441083 | ACOT11,FAM151A | c.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) | |
1 | g.54609357C>G | CA340441085 | ACOT11,FAM151A | c.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) | |
1 | g.54609357C>T | CA340441088 | ACOT11,FAM151A | c.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) | |
1 | g.54609358C>A | CA418177269 | ACOT11,FAM151A | c.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 |
1 | g.54609358C= | CA1148436919 | ACOT11,FAM151A | c.1668G= (p.Leu556=) c.*246C= (n.*246C=) c.1107G= (p.Leu369=) c.1629+1290C= (n.1629+1290C=) n.2109C= c.1590G= (p.Leu530=) | |
1 | g.54609358C>G | CA418177270 | ACOT11,FAM151A | c.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=) | |
1 | g.54609358C>T | CA866847 | ACOT11,FAM151A | c.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 |
1 | g.54609360_54609362del | CA2841376795 | ACOT11,FAM151A | c.1666_1668del (p.Leu556del) c.*248_*250del (n.*248_*250del) c.1105_1107del (p.Leu369del) c.1629+1292_1629+1294del (n.1629+1292_1629+1294del) n.2111_2113del c.1588_1590del (p.Leu530del) | |
1 | g.54609359A= | CA1167798447 | ACOT11,FAM151A | c.1667T= (p.Leu556=) c.*247A= (n.*247A=) c.1106T= (p.Leu369=) c.1629+1291A= (n.1629+1291A=) n.2110A= c.1589T= (p.Leu530=) | |
1 | g.54609359A>C | CA340441097 | ACOT11,FAM151A | c.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) | |
1 | g.54609359A>G | CA340441094 | ACOT11,FAM151A | c.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 |
1 | g.54609359A>T | CA340441093 | ACOT11,FAM151A | c.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) | |
1 | g.54609360G>A | CA418177271 | ACOT11,FAM151A | c.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=) | |
1 | g.54609360G>C | CA340441098 | ACOT11,FAM151A | c.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) | |
1 | g.54609360G>T | CA340441100 | ACOT11,FAM151A | c.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) | |
1 | g.54609361C>A | CA340441102 | ACOT11,FAM151A | c.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) | |
1 | g.54609361C>G | CA340441105 | ACOT11,FAM151A | c.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) | |
1 | g.54609361C>T | CA418177272 | ACOT11,FAM151A | c.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=) | |
1 | g.54609362A>C | CA340441108 | ACOT11,FAM151A | c.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 |
1 | g.54609362A>G | CA340441111 | ACOT11,FAM151A | c.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) | |
1 | g.54609362A>T | CA340441113 | ACOT11,FAM151A | c.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) | |
1 | g.54609363A= | CA1142127715 | ACOT11,FAM151A | c.1663T= (p.Leu555=) c.*251A= (n.*251A=) c.1102T= (p.Leu368=) c.1629+1295A= (n.1629+1295A=) n.2114A= c.1585T= (p.Leu529=) | |
1 | g.54609363A>C | CA340441116 | ACOT11,FAM151A | c.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) | |
1 | g.54609363A>G | CA866848 | ACOT11,FAM151A | c.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 |
1 | g.54609363A>T | CA340441120 | ACOT11,FAM151A | c.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) | |
1 | g.54609364T>A | CA418177273 | ACOT11,FAM151A | c.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=) | |
1 | g.54609364T>C | CA418177274 | ACOT11,FAM151A | c.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=) | |
1 | g.54609364T>G | CA418177275 | ACOT11,FAM151A | c.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 |
1 | g.54609365G>A | CA340441123 | ACOT11,FAM151A | c.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) | |
1 | g.54609365G>C | CA340441128 | ACOT11,FAM151A | c.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) | |
1 | g.54609365G>T | CA340441130 | ACOT11,FAM151A | c.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) | |
1 | g.54609365_54609370delinsGCTGTC | CA1167798448 | ACOT11,FAM151A | c.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=) | |
1 | g.54609366C>A | CA340441141 | ACOT11,FAM151A | c.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) | |
1 | g.54609366C>G | CA340441143 | ACOT11,FAM151A | c.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) | |
1 | g.54609366C>T | CA340441144 | ACOT11,FAM151A | c.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) | |
1 | g.54609368_54609372del | CA866849 | ACOT11,FAM151A | c.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 |
1 | g.54609367T>A | CA418177277 | ACOT11,FAM151A | c.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=) | |
1 | g.54609367T>C | CA418177276 | ACOT11,FAM151A | c.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=) | |
1 | g.54609367T>G | CA418177278 | ACOT11,FAM151A | c.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=) | |
1 | g.54609368G>A | CA340441147 | ACOT11,FAM151A | c.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 |
1 | g.54609368G>C | CA340441149 | ACOT11,FAM151A | c.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) | |
1 | g.54609368G>T | CA340441150 | ACOT11,FAM151A | c.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) | |
1 | g.54609369T>A | CA340441153 | ACOT11,FAM151A | c.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) | |
1 | g.54609369T>C | CA340441154 | ACOT11,FAM151A | c.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) | |
1 | g.54609369T>G | CA340441157 | ACOT11,FAM151A | c.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) | |
1 | g.54609369_54609370delinsTC | CA1167798449 | ACOT11,FAM151A | c.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=) | |
1 | g.54609370C>A | CA340441159 | ACOT11,FAM151A | c.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 |
1 | g.54609370C= | CA1167798450 | ACOT11,FAM151A | c.1656G= (p.Arg552=) c.*258C= (n.*258C=) c.1095G= (p.Arg365=) c.1629+1302C= (n.1629+1302C=) n.2121C= c.1578G= (p.Arg526=) | |
1 | g.54609370C>G | CA340441161 | ACOT11,FAM151A | c.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) | |
1 | g.54609370C>T | CA418177279 | ACOT11,FAM151A | c.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 |
1 | g.54609371del | CA523274612 | ACOT11,FAM151A | c.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 |
1 | g.54609371C>A | CA340441163 | ACOT11,FAM151A | c.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) | |
1 | g.54609371C= | CA1167798451 | ACOT11,FAM151A | c.1655G= (p.Arg552=) c.*259C= (n.*259C=) c.1094G= (p.Arg365=) c.1629+1303C= (n.1629+1303C=) n.2122C= c.1577G= (p.Arg526=) | |
1 | g.54609371C>G | CA340441166 | ACOT11,FAM151A | c.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) | |
1 | g.54609371C>T | CA340441174 | ACOT11,FAM151A | c.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 |
1 | g.54609372T>A | CA340441178 | ACOT11,FAM151A | c.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) | |
1 | g.54609372T>C | CA340441180 | ACOT11,FAM151A | c.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) | |
1 | g.54609372T>G | CA418177280 | ACOT11,FAM151A | c.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=) | |
1 | g.54609372_54609374delinsTCA | CA1167798452 | ACOT11,FAM151A | c.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=) | |
1 | g.54609373C>A | CA418177281 | ACOT11,FAM151A | c.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=) | |
1 | g.54609373C= | CA1167798453 | ACOT11,FAM151A | c.1653G= (p.Val551=) c.*261C= (n.*261C=) c.1092G= (p.Val364=) c.1629+1305C= (n.1629+1305C=) n.2124C= c.1575G= (p.Val525=) | |
1 | g.54609373C>G | CA418177283 | ACOT11,FAM151A | c.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=) | |
1 | g.54609373C>T | CA418177282 | ACOT11,FAM151A | c.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 |
1 | g.54609375_54609376del | CA22715398 | ACOT11,FAM151A | c.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 |
1 | g.54609374A>C | CA340441187 | ACOT11,FAM151A | c.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) | |
1 | g.54609374A>G | CA340441183 | ACOT11,FAM151A | c.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) | |
1 | g.54609374A>T | CA340441185 | ACOT11,FAM151A | c.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) | |
1 | g.54609374dup | CA2645794464 | ACOT11,FAM151A | c.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 |
1 | g.54609375C>A | CA340441189 | ACOT11,FAM151A | c.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) | |
1 | g.54609375C>G | CA340441190 | ACOT11,FAM151A | c.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 |
1 | g.54609375C>T | CA340441191 | ACOT11,FAM151A | c.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) | |
1 | g.54609375_54609377delinsCAG | CA1167798454 | ACOT11,FAM151A | c.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=) | |
1 | g.54609376A>C | CA418177284 | ACOT11,FAM151A | c.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=) | |
1 | g.54609376A>G | CA418177285 | ACOT11,FAM151A | c.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 |
1 | g.54609376A>T | CA418177286 | ACOT11,FAM151A | c.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=) | |
1 | g.54609378_54609379del | CA523274613 | ACOT11,FAM151A | c.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 |
1 | g.54609377G>A | CA340441194 | ACOT11,FAM151A | c.1649C>T (p.Ser550Phe) c.*265G>A (n.*265G>A) c.1088C>T (p.Ser363Phe) c.1629+1309G>A (n.1629+1309G>A) n.2128G>A c.1571C>T (p.Ser524Phe) | |
1 | g.54609377G>C | CA340441195 | ACOT11,FAM151A | c.1649C>G (p.Ser550Cys) c.*265G>C (n.*265G>C) c.1088C>G (p.Ser363Cys) c.1629+1309G>C (n.1629+1309G>C) n.2128G>C c.1571C>G (p.Ser524Cys) | |
1 | g.54609377G>T | CA340441198 | ACOT11,FAM151A | c.1649C>A (p.Ser550Tyr) c.*265G>T (n.*265G>T) c.1088C>A (p.Ser363Tyr) c.1629+1309G>T (n.1629+1309G>T) n.2128G>T c.1571C>A (p.Ser524Tyr) | |
1 | g.54609378A>C | CA340441200 | ACOT11,FAM151A | c.1648T>G (p.Ser550Ala) c.*266A>C (n.*266A>C) c.1087T>G (p.Ser363Ala) c.1629+1310A>C (n.1629+1310A>C) n.2129A>C c.1570T>G (p.Ser524Ala) | |
1 | g.54609378A>G | CA340441202 | ACOT11,FAM151A | c.1648T>C (p.Ser550Pro) c.*266A>G (n.*266A>G) c.1087T>C (p.Ser363Pro) c.1629+1310A>G (n.1629+1310A>G) n.2129A>G c.1570T>C (p.Ser524Pro) | |
1 | g.54609378A>T | CA340441204 | ACOT11,FAM151A | c.1648T>A (p.Ser550Thr) c.*266A>T (n.*266A>T) c.1087T>A (p.Ser363Thr) c.1629+1310A>T (n.1629+1310A>T) n.2129A>T c.1570T>A (p.Ser524Thr) | |
1 | g.54609379G>A | CA418177287 | ACOT11,FAM151A | c.1647C>T (p.Ala549=) c.*267G>A (n.*267G>A) c.1086C>T (p.Ala362=) c.1629+1311G>A (n.1629+1311G>A) n.2130G>A c.1569C>T (p.Ala523=) | |
1 | g.54609379G>C | CA418177288 | ACOT11,FAM151A | c.1647C>G (p.Ala549=) c.*267G>C (n.*267G>C) c.1086C>G (p.Ala362=) c.1629+1311G>C (n.1629+1311G>C) n.2130G>C c.1569C>G (p.Ala523=) | |
1 | g.54609379G>T | CA418177289 | ACOT11,FAM151A | c.1647C>A (p.Ala549=) c.*267G>T (n.*267G>T) c.1086C>A (p.Ala362=) c.1629+1311G>T (n.1629+1311G>T) n.2130G>T c.1569C>A (p.Ala523=) | |
1 | g.54609379_54609387delinsGGCATAGTC | CA1167798455 | ACOT11,FAM151A | c.1639_1647delinsGACTATGCC (p.Asp547=) c.*267_*275delinsGGCATAGTC (n.*267_*275delinsGGCATAGTC) c.1078_1086delinsGACTATGCC (p.Asp360=) c.1629+1311_1629+1319delinsGGCATAGTC (n.1629+1311_1629+1319delinsGGCATAGTC) n.2130_2138delinsGGCATAGTC c.1561_1569delinsGACTATGCC (p.Asp521=) | |
1 | g.54609380G>A | CA340441205 | ACOT11,FAM151A | c.1646C>T (p.Ala549Val) c.*268G>A (n.*268G>A) c.1085C>T (p.Ala362Val) c.1629+1312G>A (n.1629+1312G>A) n.2131G>A c.1568C>T (p.Ala523Val) | |
1 | g.54609380G>C | CA340441206 | ACOT11,FAM151A | c.1646C>G (p.Ala549Gly) c.*268G>C (n.*268G>C) c.1085C>G (p.Ala362Gly) c.1629+1312G>C (n.1629+1312G>C) n.2131G>C c.1568C>G (p.Ala523Gly) | |
1 | g.54609380G>T | CA340441207 | ACOT11,FAM151A | c.1646C>A (p.Ala549Asp) c.*268G>T (n.*268G>T) c.1085C>A (p.Ala362Asp) c.1629+1312G>T (n.1629+1312G>T) n.2131G>T c.1568C>A (p.Ala523Asp) | gnomAD v4 |
1 | g.54609382_54609389del | CA523274614 | ACOT11,FAM151A | c.1639_1646del (p.Asp547LeufsTer10) c.*270_*277del (n.*270_*277del) c.1078_1085del (p.Asp360LeufsTer10) c.1629+1314_1629+1321del (n.1629+1314_1629+1321del) n.2133_2140del c.1561_1568del (p.Asp521LeufsTer10) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.54609381C>A | CA340441208 | ACOT11,FAM151A | c.1645G>T (p.Ala549Ser) c.*269C>A (n.*269C>A) c.1084G>T (p.Ala362Ser) c.1629+1313C>A (n.1629+1313C>A) n.2132C>A c.1567G>T (p.Ala523Ser) | |
1 | g.54609381C>G | CA340441210 | ACOT11,FAM151A | c.1645G>C (p.Ala549Pro) c.*269C>G (n.*269C>G) c.1084G>C (p.Ala362Pro) c.1629+1313C>G (n.1629+1313C>G) n.2132C>G c.1567G>C (p.Ala523Pro) | |
1 | g.54609381C>T | CA340441209 | ACOT11,FAM151A | c.1645G>A (p.Ala549Thr) c.*269C>T (n.*269C>T) c.1084G>A (p.Ala362Thr) c.1629+1313C>T (n.1629+1313C>T) n.2132C>T c.1567G>A (p.Ala523Thr) | gnomAD v4 |
1 | g.54609382A>C | CA340441212 | ACOT11,FAM151A | c.1644T>G (p.Tyr548Ter) c.*270A>C (n.*270A>C) c.1083T>G (p.Tyr361Ter) c.1629+1314A>C (n.1629+1314A>C) n.2133A>C c.1566T>G (p.Tyr522Ter) | |
1 | g.54609382A>G | CA418177290 | ACOT11,FAM151A | c.1644T>C (p.Tyr548=) c.*270A>G (n.*270A>G) c.1083T>C (p.Tyr361=) c.1629+1314A>G (n.1629+1314A>G) n.2133A>G c.1566T>C (p.Tyr522=) | |
1 | g.54609382A>T | CA340441214 | ACOT11,FAM151A | c.1644T>A (p.Tyr548Ter) c.*270A>T (n.*270A>T) c.1083T>A (p.Tyr361Ter) c.1629+1314A>T (n.1629+1314A>T) n.2133A>T c.1566T>A (p.Tyr522Ter) | |
1 | g.54609382_54609441delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG | CA1167798456 | ACOT11,FAM151A | c.1585_1644delinsCTGGCATCCTCCCCCCGGGCCACCGTCACAGTGGAGCACAACCCAGCTGGGGGCGACTAT (p.Leu529=) c.*270_*329delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG (n.*270_*329delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG) c.1024_1083delinsCTGGCATCCTCCCCCCGGGCCACCGTCACAGTGGAGCACAACCCAGCTGGGGGCGACTAT (p.Leu342=) c.1629+1314_1629+1373delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG (n.1629+1314_1629+1373delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG) n.2133_2192delinsATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG c.1507_1566delinsCTGGCATCCTCCCCCCGGGCCACCGTCACAGTGGAGCACAACCCAGCTGGGGGCGACTAT (p.Leu503=) | |
1 | g.54609383T>A | CA340441218 | ACOT11,FAM151A | c.1643A>T (p.Tyr548Phe) c.*271T>A (n.*271T>A) c.1082A>T (p.Tyr361Phe) c.1629+1315T>A (n.1629+1315T>A) n.2134T>A c.1565A>T (p.Tyr522Phe) | |
1 | g.54609383T>C | CA340441220 | ACOT11,FAM151A | c.1643A>G (p.Tyr548Cys) c.*271T>C (n.*271T>C) c.1082A>G (p.Tyr361Cys) c.1629+1315T>C (n.1629+1315T>C) n.2134T>C c.1565A>G (p.Tyr522Cys) | |
1 | g.54609383T>G | CA340441222 | ACOT11,FAM151A | c.1643A>C (p.Tyr548Ser) c.*271T>G (n.*271T>G) c.1082A>C (p.Tyr361Ser) c.1629+1315T>G (n.1629+1315T>G) n.2134T>G c.1565A>C (p.Tyr522Ser) | |
1 | g.54609383_54609441del | CA866850 | ACOT11,FAM151A | c.1585_1643del (p.Leu529CysfsTer11) c.*271_*329del (n.*271_*329del) c.1024_1082del (p.Leu342CysfsTer11) c.1629+1315_1629+1373del (n.1629+1315_1629+1373del) n.2134_2192del c.1507_1565del (p.Leu503CysfsTer11) | dbSNP ExAC gnomAD v2 |
1 | g.54609384A>C | CA340441224 | ACOT11,FAM151A | c.1642T>G (p.Tyr548Asp) c.*272A>C (n.*272A>C) c.1081T>G (p.Tyr361Asp) c.1629+1316A>C (n.1629+1316A>C) n.2135A>C c.1564T>G (p.Tyr522Asp) | |
1 | g.54609384A>G | CA340441226 | ACOT11,FAM151A | c.1642T>C (p.Tyr548His) c.*272A>G (n.*272A>G) c.1081T>C (p.Tyr361His) c.1629+1316A>G (n.1629+1316A>G) n.2135A>G c.1564T>C (p.Tyr522His) | |
1 | g.54609384A>T | CA340441227 | ACOT11,FAM151A | c.1642T>A (p.Tyr548Asn) c.*272A>T (n.*272A>T) c.1081T>A (p.Tyr361Asn) c.1629+1316A>T (n.1629+1316A>T) n.2135A>T c.1564T>A (p.Tyr522Asn) | |
1 | g.54609385G>A | CA418177291 | ACOT11,FAM151A | c.1641C>T (p.Asp547=) c.*273G>A (n.*273G>A) c.1080C>T (p.Asp360=) c.1629+1317G>A (n.1629+1317G>A) n.2136G>A c.1563C>T (p.Asp521=) | |
1 | g.54609385G>C | CA866851 | ACOT11,FAM151A | c.1641C>G (p.Asp547Glu) c.*273G>C (n.*273G>C) c.1080C>G (p.Asp360Glu) c.1629+1317G>C (n.1629+1317G>C) n.2136G>C c.1563C>G (p.Asp521Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.54609385G= | CA1167798457 | ACOT11,FAM151A | c.1641C= (p.Asp547=) c.*273G= (n.*273G=) c.1080C= (p.Asp360=) c.1629+1317G= (n.1629+1317G=) n.2136G= c.1563C= (p.Asp521=) | |
1 | g.54609385G>T | CA340441232 | ACOT11,FAM151A | c.1641C>A (p.Asp547Glu) c.*273G>T (n.*273G>T) c.1080C>A (p.Asp360Glu) c.1629+1317G>T (n.1629+1317G>T) n.2136G>T c.1563C>A (p.Asp521Glu) | |
1 | g.54609386T>A | CA340441236 | ACOT11,FAM151A | c.1640A>T (p.Asp547Val) c.*274T>A (n.*274T>A) c.1079A>T (p.Asp360Val) c.1629+1318T>A (n.1629+1318T>A) n.2137T>A c.1562A>T (p.Asp521Val) | |
1 | g.54609386T>C | CA866852 | ACOT11,FAM151A | c.1640A>G (p.Asp547Gly) c.*274T>C (n.*274T>C) c.1079A>G (p.Asp360Gly) c.1629+1318T>C (n.1629+1318T>C) n.2137T>C c.1562A>G (p.Asp521Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.54609386T>G | CA340441238 | ACOT11,FAM151A | c.1640A>C (p.Asp547Ala) c.*274T>G (n.*274T>G) c.1079A>C (p.Asp360Ala) c.1629+1318T>G (n.1629+1318T>G) n.2137T>G c.1562A>C (p.Asp521Ala) | |
1 | g.54609386T= | CA1167798458 | ACOT11,FAM151A | c.1640A= (p.Asp547=) c.*274T= (n.*274T=) c.1079A= (p.Asp360=) c.1629+1318T= (n.1629+1318T=) n.2137T= c.1562A= (p.Asp521=) | |
1 | g.54609387C>A | CA340441239 | ACOT11,FAM151A | c.1639G>T (p.Asp547Tyr) c.*275C>A (n.*275C>A) c.1078G>T (p.Asp360Tyr) c.1629+1319C>A (n.1629+1319C>A) n.2138C>A c.1561G>T (p.Asp521Tyr) | |
1 | g.54609387C= | CA1144457426 | ACOT11,FAM151A | c.1639G= (p.Asp547=) c.*275C= (n.*275C=) c.1078G= (p.Asp360=) c.1629+1319C= (n.1629+1319C=) n.2138C= c.1561G= (p.Asp521=) | |
1 | g.54609387C>G | CA340441242 | ACOT11,FAM151A | c.1639G>C (p.Asp547His) c.*275C>G (n.*275C>G) c.1078G>C (p.Asp360His) c.1629+1319C>G (n.1629+1319C>G) n.2138C>G c.1561G>C (p.Asp521His) | |
1 | g.54609387C>T | CA866853 | ACOT11,FAM151A | c.1639G>A (p.Asp547Asn) c.*275C>T (n.*275C>T) c.1078G>A (p.Asp360Asn) c.1629+1319C>T (n.1629+1319C>T) n.2138C>T c.1561G>A (p.Asp521Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609387_54609400dup | CA523274615 | ACOT11,FAM151A | c.1626_1639dup (p.Asp547AlafsTer10) c.*275_*288dup (n.*275_*288dup) c.1065_1078dup (p.Asp360AlafsTer10) c.1629+1319_1629+1332dup (n.1629+1319_1629+1332dup) n.2138_2151dup c.1548_1561dup (p.Asp521AlafsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609388G>A | CA866854 | ACOT11,FAM151A | c.1638C>T (p.Gly546=) c.*276G>A (n.*276G>A) c.1077C>T (p.Gly359=) c.1629+1320G>A (n.1629+1320G>A) n.2139G>A c.1560C>T (p.Gly520=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609388G>C | CA866855 | ACOT11,FAM151A | c.1638C>G (p.Gly546=) c.*276G>C (n.*276G>C) c.1077C>G (p.Gly359=) c.1629+1320G>C (n.1629+1320G>C) n.2139G>C c.1560C>G (p.Gly520=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609388G= | CA1142099909 | ACOT11,FAM151A | c.1638C= (p.Gly546=) c.*276G= (n.*276G=) c.1077C= (p.Gly359=) c.1629+1320G= (n.1629+1320G=) n.2139G= c.1560C= (p.Gly520=) | |
1 | g.54609388G>T | CA418177292 | ACOT11,FAM151A | c.1638C>A (p.Gly546=) c.*276G>T (n.*276G>T) c.1077C>A (p.Gly359=) c.1629+1320G>T (n.1629+1320G>T) n.2139G>T c.1560C>A (p.Gly520=) | |
1 | g.54609388_54609389delinsGC | CA1167798459 | ACOT11,FAM151A | c.1637_1638delinsGC (p.Gly546=) c.*276_*277delinsGC (n.*276_*277delinsGC) c.1076_1077delinsGC (p.Gly359=) c.1629+1320_1629+1321delinsGC (n.1629+1320_1629+1321delinsGC) n.2139_2140delinsGC c.1559_1560delinsGC (p.Gly520=) | |
1 | g.54609389C>A | CA340441247 | ACOT11,FAM151A | c.1637G>T (p.Gly546Val) c.*277C>A (n.*277C>A) c.1076G>T (p.Gly359Val) c.1629+1321C>A (n.1629+1321C>A) n.2140C>A c.1559G>T (p.Gly520Val) | dbSNP |
1 | g.54609389C= | CA1139926633 | ACOT11,FAM151A | c.1637G= (p.Gly546=) c.*277C= (n.*277C=) c.1076G= (p.Gly359=) c.1629+1321C= (n.1629+1321C=) n.2140C= c.1559G= (p.Gly520=) | |
1 | g.54609389C>G | CA340441249 | ACOT11,FAM151A | c.1637G>C (p.Gly546Ala) c.*277C>G (n.*277C>G) c.1076G>C (p.Gly359Ala) c.1629+1321C>G (n.1629+1321C>G) n.2140C>G c.1559G>C (p.Gly520Ala) | |
1 | g.54609389C>T | CA866857 | ACOT11,FAM151A | c.1637G>A (p.Gly546Asp) c.*277C>T (n.*277C>T) c.1076G>A (p.Gly359Asp) c.1629+1321C>T (n.1629+1321C>T) n.2140C>T c.1559G>A (p.Gly520Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609393dup | CA2743674401 | ACOT11,FAM151A | c.1637dup (p.Asp547ArgfsTer13) c.*281dup (n.*281dup) c.1076dup (p.Asp360ArgfsTer13) c.1629+1325dup (n.1629+1325dup) n.2144dup c.1559dup (p.Asp521ArgfsTer13) | |
1 | g.54609393del | CA866856 | ACOT11,FAM151A | c.1637del (p.Gly546AlafsTer6) c.*281del (n.*281del) c.1076del (p.Gly359AlafsTer6) c.1629+1325del (n.1629+1325del) n.2144del c.1559del (p.Gly520AlafsTer6) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609390C>A | CA340441255 | ACOT11,FAM151A | c.1636G>T (p.Gly546Cys) c.*278C>A (n.*278C>A) c.1075G>T (p.Gly359Cys) c.1629+1322C>A (n.1629+1322C>A) n.2141C>A c.1558G>T (p.Gly520Cys) | |
1 | g.54609390C>G | CA340441257 | ACOT11,FAM151A | c.1636G>C (p.Gly546Arg) c.*278C>G (n.*278C>G) c.1075G>C (p.Gly359Arg) c.1629+1322C>G (n.1629+1322C>G) n.2141C>G c.1558G>C (p.Gly520Arg) | |
1 | g.54609390C>T | CA340441260 | ACOT11,FAM151A | c.1636G>A (p.Gly546Ser) c.*278C>T (n.*278C>T) c.1075G>A (p.Gly359Ser) c.1629+1322C>T (n.1629+1322C>T) n.2141C>T c.1558G>A (p.Gly520Ser) | |
1 | g.54609391C>A | CA418177293 | ACOT11,FAM151A | c.1635G>T (p.Gly545=) c.*279C>A (n.*279C>A) c.1074G>T (p.Gly358=) c.1629+1323C>A (n.1629+1323C>A) n.2142C>A c.1557G>T (p.Gly519=) | |
1 | g.54609391C= | CA1167798460 | ACOT11,FAM151A | c.1635G= (p.Gly545=) c.*279C= (n.*279C=) c.1074G= (p.Gly358=) c.1629+1323C= (n.1629+1323C=) n.2142C= c.1557G= (p.Gly519=) | |
1 | g.54609391C>G | CA418177294 | ACOT11,FAM151A | c.1635G>C (p.Gly545=) c.*279C>G (n.*279C>G) c.1074G>C (p.Gly358=) c.1629+1323C>G (n.1629+1323C>G) n.2142C>G c.1557G>C (p.Gly519=) | |
1 | g.54609391C>T | CA418177295 | ACOT11,FAM151A | c.1635G>A (p.Gly545=) c.*279C>T (n.*279C>T) c.1074G>A (p.Gly358=) c.1629+1323C>T (n.1629+1323C>T) n.2142C>T c.1557G>A (p.Gly519=) | dbSNP gnomAD v4 |
1 | g.54609392C>A | CA340441262 | ACOT11,FAM151A | c.1634G>T (p.Gly545Val) c.*280C>A (n.*280C>A) c.1073G>T (p.Gly358Val) c.1629+1324C>A (n.1629+1324C>A) n.2143C>A c.1556G>T (p.Gly519Val) | |
1 | g.54609392C>G | CA340441265 | ACOT11,FAM151A | c.1634G>C (p.Gly545Ala) c.*280C>G (n.*280C>G) c.1073G>C (p.Gly358Ala) c.1629+1324C>G (n.1629+1324C>G) n.2143C>G c.1556G>C (p.Gly519Ala) | |
1 | g.54609392C>T | CA340441267 | ACOT11,FAM151A | c.1634G>A (p.Gly545Glu) c.*280C>T (n.*280C>T) c.1073G>A (p.Gly358Glu) c.1629+1324C>T (n.1629+1324C>T) n.2143C>T c.1556G>A (p.Gly519Glu) | |
1 | g.54609393C>A | CA340441273 | ACOT11,FAM151A | c.1633G>T (p.Gly545Trp) c.*281C>A (n.*281C>A) c.1072G>T (p.Gly358Trp) c.1629+1325C>A (n.1629+1325C>A) n.2144C>A c.1555G>T (p.Gly519Trp) | |
1 | g.54609393C>G | CA340441272 | ACOT11,FAM151A | c.1633G>C (p.Gly545Arg) c.*281C>G (n.*281C>G) c.1072G>C (p.Gly358Arg) c.1629+1325C>G (n.1629+1325C>G) n.2144C>G c.1555G>C (p.Gly519Arg) | |
1 | g.54609393C>T | CA340441270 | ACOT11,FAM151A | c.1633G>A (p.Gly545Arg) c.*281C>T (n.*281C>T) c.1072G>A (p.Gly358Arg) c.1629+1325C>T (n.1629+1325C>T) n.2144C>T c.1555G>A (p.Gly519Arg) | |
1 | g.54609394A= | CA1167798461 | ACOT11,FAM151A | c.1632T= (p.Ala544=) c.*282A= (n.*282A=) c.1071T= (p.Ala357=) c.1629+1326A= (n.1629+1326A=) n.2145A= c.1554T= (p.Ala518=) | |
1 | g.54609394A>C | CA418177296 | ACOT11,FAM151A | c.1632T>G (p.Ala544=) c.*282A>C (n.*282A>C) c.1071T>G (p.Ala357=) c.1629+1326A>C (n.1629+1326A>C) n.2145A>C c.1554T>G (p.Ala518=) | gnomAD v4 |
1 | g.54609394A>G | CA418177297 | ACOT11,FAM151A | c.1632T>C (p.Ala544=) c.*282A>G (n.*282A>G) c.1071T>C (p.Ala357=) c.1629+1326A>G (n.1629+1326A>G) n.2145A>G c.1554T>C (p.Ala518=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.54609394A>T | CA418177298 | ACOT11,FAM151A | c.1632T>A (p.Ala544=) c.*282A>T (n.*282A>T) c.1071T>A (p.Ala357=) c.1629+1326A>T (n.1629+1326A>T) n.2145A>T c.1554T>A (p.Ala518=) | gnomAD v4 |