Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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.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.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.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 |
1 | g.54609395G>A | CA340441279 | ACOT11,FAM151A | c.1631C>T (p.Ala544Val) c.*283G>A (n.*283G>A) c.1070C>T (p.Ala357Val) c.1629+1327G>A (n.1629+1327G>A) n.2146G>A c.1553C>T (p.Ala518Val) | gnomAD v4 |
1 | g.54609395G>C | CA340441276 | ACOT11,FAM151A | c.1631C>G (p.Ala544Gly) c.*283G>C (n.*283G>C) c.1070C>G (p.Ala357Gly) c.1629+1327G>C (n.1629+1327G>C) n.2146G>C c.1553C>G (p.Ala518Gly) | |
1 | g.54609395G>T | CA340441282 | ACOT11,FAM151A | c.1631C>A (p.Ala544Asp) c.*283G>T (n.*283G>T) c.1070C>A (p.Ala357Asp) c.1629+1327G>T (n.1629+1327G>T) n.2146G>T c.1553C>A (p.Ala518Asp) | |
1 | g.54609396C>A | CA340441284 | ACOT11,FAM151A | c.1630G>T (p.Ala544Ser) c.*284C>A (n.*284C>A) c.1069G>T (p.Ala357Ser) c.1629+1328C>A (n.1629+1328C>A) n.2147C>A c.1552G>T (p.Ala518Ser) | |
1 | g.54609396C>G | CA340441290 | ACOT11,FAM151A | c.1630G>C (p.Ala544Pro) c.*284C>G (n.*284C>G) c.1069G>C (p.Ala357Pro) c.1629+1328C>G (n.1629+1328C>G) n.2147C>G c.1552G>C (p.Ala518Pro) | |
1 | g.54609396C>T | CA340441287 | ACOT11,FAM151A | c.1630G>A (p.Ala544Thr) c.*284C>T (n.*284C>T) c.1069G>A (p.Ala357Thr) c.1629+1328C>T (n.1629+1328C>T) n.2147C>T c.1552G>A (p.Ala518Thr) | gnomAD v4 |
1 | g.54609396dup | CA2645794467 | ACOT11,FAM151A | c.1630dup (p.Ala544GlyfsTer16) c.*284dup (n.*284dup) c.1069dup (p.Ala357GlyfsTer16) c.1629+1328dup (n.1629+1328dup) n.2147dup c.1552dup (p.Ala518GlyfsTer16) | gnomAD v4 |
1 | g.54609397T>A | CA418177299 | ACOT11,FAM151A | c.1629A>T (p.Pro543=) c.*285T>A (n.*285T>A) c.1068A>T (p.Pro356=) c.1629+1329T>A (n.1629+1329T>A) n.2148T>A c.1551A>T (p.Pro517=) | |
1 | g.54609397T>C | CA418177300 | ACOT11,FAM151A | c.1629A>G (p.Pro543=) c.*285T>C (n.*285T>C) c.1068A>G (p.Pro356=) c.1629+1329T>C (n.1629+1329T>C) n.2148T>C c.1551A>G (p.Pro517=) | |
1 | g.54609397T>G | CA418177301 | ACOT11,FAM151A | c.1629A>C (p.Pro543=) c.*285T>G (n.*285T>G) c.1068A>C (p.Pro356=) c.1629+1329T>G (n.1629+1329T>G) n.2148T>G c.1551A>C (p.Pro517=) | |
1 | g.54609397_54609398insCACAGA | CA2645794469 | ACOT11,FAM151A | c.1628_1629insTCTGTG (p.Pro544LeufsTer2) c.*285_*286insCACAGA (n.*285_*286insCACAGA) c.1067_1068insTCTGTG (p.Pro357LeufsTer2) c.1629+1329_1629+1330insCACAGA (n.1629+1329_1629+1330insCACAGA) n.2148_2149insCACAGA c.1550_1551insTCTGTG (p.Pro518LeufsTer2) | gnomAD v4 |
1 | g.54609398G>A | CA340441293 | ACOT11,FAM151A | c.1628C>T (p.Pro543Leu) c.*286G>A (n.*286G>A) c.1067C>T (p.Pro356Leu) c.1629+1330G>A (n.1629+1330G>A) n.2149G>A c.1550C>T (p.Pro517Leu) | |
1 | g.54609398G>C | CA340441295 | ACOT11,FAM151A | c.1628C>G (p.Pro543Arg) c.*286G>C (n.*286G>C) c.1067C>G (p.Pro356Arg) c.1629+1330G>C (n.1629+1330G>C) n.2149G>C c.1550C>G (p.Pro517Arg) | |
1 | g.54609398G= | CA1167798462 | ACOT11,FAM151A | c.1628C= (p.Pro543=) c.*286G= (n.*286G=) c.1067C= (p.Pro356=) c.1629+1330G= (n.1629+1330G=) n.2149G= c.1550C= (p.Pro517=) | |
1 | g.54609398G>T | CA340441298 | ACOT11,FAM151A | c.1628C>A (p.Pro543Gln) c.*286G>T (n.*286G>T) c.1067C>A (p.Pro356Gln) c.1629+1330G>T (n.1629+1330G>T) n.2149G>T c.1550C>A (p.Pro517Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.54609399G>A | CA340441301 | ACOT11,FAM151A | c.1627C>T (p.Pro543Ser) c.*287G>A (n.*287G>A) c.1066C>T (p.Pro356Ser) c.1629+1331G>A (n.1629+1331G>A) n.2150G>A c.1549C>T (p.Pro517Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.54609399G>C | CA340441304 | ACOT11,FAM151A | c.1627C>G (p.Pro543Ala) c.*287G>C (n.*287G>C) c.1066C>G (p.Pro356Ala) c.1629+1331G>C (n.1629+1331G>C) n.2150G>C c.1549C>G (p.Pro517Ala) | |
1 | g.54609399G= | CA1167798463 | ACOT11,FAM151A | c.1627C= (p.Pro543=) c.*287G= (n.*287G=) c.1066C= (p.Pro356=) c.1629+1331G= (n.1629+1331G=) n.2150G= c.1549C= (p.Pro517=) | |
1 | g.54609399G>T | CA340441306 | ACOT11,FAM151A | c.1627C>A (p.Pro543Thr) c.*287G>T (n.*287G>T) c.1066C>A (p.Pro356Thr) c.1629+1331G>T (n.1629+1331G>T) n.2150G>T c.1549C>A (p.Pro517Thr) | |
1 | g.54609399_54609400insCATA | CA2645794470 | ACOT11,FAM151A | c.1626_1627insTATG (p.Pro543TyrfsTer18) c.*287_*288insCATA (n.*287_*288insCATA) c.1065_1066insTATG (p.Pro356TyrfsTer18) c.1629+1331_1629+1332insCATA (n.1629+1331_1629+1332insCATA) n.2150_2151insCATA c.1548_1549insTATG (p.Pro517TyrfsTer18) | gnomAD v4 |
1 | g.54609400G>A | CA418177302 | ACOT11,FAM151A | c.1626C>T (p.Asn542=) c.*288G>A (n.*288G>A) c.1065C>T (p.Asn355=) c.1629+1332G>A (n.1629+1332G>A) n.2151G>A c.1548C>T (p.Asn516=) | |
1 | g.54609400G>C | CA340441310 | ACOT11,FAM151A | c.1626C>G (p.Asn542Lys) c.*288G>C (n.*288G>C) c.1065C>G (p.Asn355Lys) c.1629+1332G>C (n.1629+1332G>C) n.2151G>C c.1548C>G (p.Asn516Lys) | |
1 | g.54609400G= | CA1167798464 | ACOT11,FAM151A | c.1626C= (p.Asn542=) c.*288G= (n.*288G=) c.1065C= (p.Asn355=) c.1629+1332G= (n.1629+1332G=) n.2151G= c.1548C= (p.Asn516=) | |
1 | g.54609400G>T | CA22715406 | ACOT11,FAM151A | c.1626C>A (p.Asn542Lys) c.*288G>T (n.*288G>T) c.1065C>A (p.Asn355Lys) c.1629+1332G>T (n.1629+1332G>T) n.2151G>T c.1548C>A (p.Asn516Lys) | dbSNP gnomAD v4 |
1 | g.54609401T>A | CA340441316 | ACOT11,FAM151A | c.1625A>T (p.Asn542Ile) c.*289T>A (n.*289T>A) c.1064A>T (p.Asn355Ile) c.1629+1333T>A (n.1629+1333T>A) n.2152T>A c.1547A>T (p.Asn516Ile) | gnomAD v4 |
1 | g.54609401T>C | CA340441318 | ACOT11,FAM151A | c.1625A>G (p.Asn542Ser) c.*289T>C (n.*289T>C) c.1064A>G (p.Asn355Ser) c.1629+1333T>C (n.1629+1333T>C) n.2152T>C c.1547A>G (p.Asn516Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.54609401T>G | CA866858 | ACOT11,FAM151A | c.1625A>C (p.Asn542Thr) c.*289T>G (n.*289T>G) c.1064A>C (p.Asn355Thr) c.1629+1333T>G (n.1629+1333T>G) n.2152T>G c.1547A>C (p.Asn516Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.54609401T= | CA1167798465 | ACOT11,FAM151A | c.1625A= (p.Asn542=) c.*289T= (n.*289T=) c.1064A= (p.Asn355=) c.1629+1333T= (n.1629+1333T=) n.2152T= c.1547A= (p.Asn516=) | |
1 | g.54609401_54609402insCGCCCC | CA2645794471 | ACOT11,FAM151A | c.1624_1625insGGGGCG (p.Asn542delinsArgGlyAsp) c.*289_*290insCGCCCC (n.*289_*290insCGCCCC) c.1063_1064insGGGGCG (p.Asn355delinsArgGlyAsp) c.1629+1333_1629+1334insCGCCCC (n.1629+1333_1629+1334insCGCCCC) n.2152_2153insCGCCCC c.1546_1547insGGGGCG (p.Asn516delinsArgGlyAsp) | gnomAD v4 |
1 | g.54609402T>A | CA340441331 | ACOT11,FAM151A | c.1624A>T (p.Asn542Tyr) c.*290T>A (n.*290T>A) c.1063A>T (p.Asn355Tyr) c.1629+1334T>A (n.1629+1334T>A) n.2153T>A c.1546A>T (p.Asn516Tyr) | gnomAD v4 |
1 | g.54609402T>C | CA340441325 | ACOT11,FAM151A | c.1624A>G (p.Asn542Asp) c.*290T>C (n.*290T>C) c.1063A>G (p.Asn355Asp) c.1629+1334T>C (n.1629+1334T>C) n.2153T>C c.1546A>G (p.Asn516Asp) | |
1 | g.54609402T>G | CA340441328 | ACOT11,FAM151A | c.1624A>C (p.Asn542His) c.*290T>G (n.*290T>G) c.1063A>C (p.Asn355His) c.1629+1334T>G (n.1629+1334T>G) n.2153T>G c.1546A>C (p.Asn516His) | |
1 | g.54609402_54609418delinsTGTGCTCCACTGTGACG | CA1167798466 | ACOT11,FAM151A | c.1608_1624delinsCGTCACAGTGGAGCACA (p.Thr536=) c.*290_*306delinsTGTGCTCCACTGTGACG (n.*290_*306delinsTGTGCTCCACTGTGACG) c.1047_1063delinsCGTCACAGTGGAGCACA (p.Thr349=) c.1629+1334_1629+1350delinsTGTGCTCCACTGTGACG (n.1629+1334_1629+1350delinsTGTGCTCCACTGTGACG) n.2153_2169delinsTGTGCTCCACTGTGACG c.1530_1546delinsCGTCACAGTGGAGCACA (p.Thr510=) | |
1 | g.54609403G>A | CA418177303 | ACOT11,FAM151A | c.1623C>T (p.His541=) c.*291G>A (n.*291G>A) c.1062C>T (p.His354=) c.1629+1335G>A (n.1629+1335G>A) n.2154G>A c.1545C>T (p.His515=) | |
1 | g.54609403G>C | CA340441333 | ACOT11,FAM151A | c.1623C>G (p.His541Gln) c.*291G>C (n.*291G>C) c.1062C>G (p.His354Gln) c.1629+1335G>C (n.1629+1335G>C) n.2154G>C c.1545C>G (p.His515Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.54609403G= | CA1167798467 | ACOT11,FAM151A | c.1623C= (p.His541=) c.*291G= (n.*291G=) c.1062C= (p.His354=) c.1629+1335G= (n.1629+1335G=) n.2154G= c.1545C= (p.His515=) | |
1 | g.54609403G>T | CA340441336 | ACOT11,FAM151A | c.1623C>A (p.His541Gln) c.*291G>T (n.*291G>T) c.1062C>A (p.His354Gln) c.1629+1335G>T (n.1629+1335G>T) n.2154G>T c.1545C>A (p.His515Gln) | |
1 | g.54609406_54609421del | CA22715417 | ACOT11,FAM151A | c.1608_1623del (p.Val537ThrfsTer10) c.*294_*309del (n.*294_*309del) c.1047_1062del (p.Val350ThrfsTer10) c.1629+1338_1629+1353del (n.1629+1338_1629+1353del) n.2157_2172del c.1530_1545del (p.Val511ThrfsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609404T>A | CA340441339 | ACOT11,FAM151A | c.1622A>T (p.His541Leu) c.*292T>A (n.*292T>A) c.1061A>T (p.His354Leu) c.1629+1336T>A (n.1629+1336T>A) n.2155T>A c.1544A>T (p.His515Leu) | |
1 | g.54609404T>C | CA340441341 | ACOT11,FAM151A | c.1622A>G (p.His541Arg) c.*292T>C (n.*292T>C) c.1061A>G (p.His354Arg) c.1629+1336T>C (n.1629+1336T>C) n.2155T>C c.1544A>G (p.His515Arg) | |
1 | g.54609404T>G | CA340441344 | ACOT11,FAM151A | c.1622A>C (p.His541Pro) c.*292T>G (n.*292T>G) c.1061A>C (p.His354Pro) c.1629+1336T>G (n.1629+1336T>G) n.2155T>G c.1544A>C (p.His515Pro) | |
1 | g.54609405G>A | CA340441349 | ACOT11,FAM151A | c.1621C>T (p.His541Tyr) c.*293G>A (n.*293G>A) c.1060C>T (p.His354Tyr) c.1629+1337G>A (n.1629+1337G>A) n.2156G>A c.1543C>T (p.His515Tyr) | |
1 | g.54609405G>C | CA340441353 | ACOT11,FAM151A | c.1621C>G (p.His541Asp) c.*293G>C (n.*293G>C) c.1060C>G (p.His354Asp) c.1629+1337G>C (n.1629+1337G>C) n.2156G>C c.1543C>G (p.His515Asp) | |
1 | g.54609405G= | CA1167798468 | ACOT11,FAM151A | c.1621C= (p.His541=) c.*293G= (n.*293G=) c.1060C= (p.His354=) c.1629+1337G= (n.1629+1337G=) n.2156G= c.1543C= (p.His515=) | |
1 | g.54609405G>T | CA22715422 | ACOT11,FAM151A | c.1621C>A (p.His541Asn) c.*293G>T (n.*293G>T) c.1060C>A (p.His354Asn) c.1629+1337G>T (n.1629+1337G>T) n.2156G>T c.1543C>A (p.His515Asn) | dbSNP |
1 | g.54609406_54609418del | CA2743674402 | ACOT11,FAM151A | c.1609_1621del (p.Val537ThrfsTer11) c.*294_*306del (n.*294_*306del) c.1048_1060del (p.Val350ThrfsTer11) c.1629+1338_1629+1350del (n.1629+1338_1629+1350del) n.2157_2169del c.1531_1543del (p.Val511ThrfsTer11) | |
1 | g.54609406C>A | CA340441357 | ACOT11,FAM151A | c.1620G>T (p.Glu540Asp) c.*294C>A (n.*294C>A) c.1059G>T (p.Glu353Asp) c.1629+1338C>A (n.1629+1338C>A) n.2157C>A c.1542G>T (p.Glu514Asp) | |
1 | g.54609406C= | CA1167798469 | ACOT11,FAM151A | c.1620G= (p.Glu540=) c.*294C= (n.*294C=) c.1059G= (p.Glu353=) c.1629+1338C= (n.1629+1338C=) n.2157C= c.1542G= (p.Glu514=) | |
1 | g.54609406C>G | CA340441360 | ACOT11,FAM151A | c.1620G>C (p.Glu540Asp) c.*294C>G (n.*294C>G) c.1059G>C (p.Glu353Asp) c.1629+1338C>G (n.1629+1338C>G) n.2157C>G c.1542G>C (p.Glu514Asp) | |
1 | g.54609406C>T | CA418177304 | ACOT11,FAM151A | c.1620G>A (p.Glu540=) c.*294C>T (n.*294C>T) c.1059G>A (p.Glu353=) c.1629+1338C>T (n.1629+1338C>T) n.2157C>T c.1542G>A (p.Glu514=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.54609407T>A | CA340441365 | ACOT11,FAM151A | c.1619A>T (p.Glu540Val) c.*295T>A (n.*295T>A) c.1058A>T (p.Glu353Val) c.1629+1339T>A (n.1629+1339T>A) n.2158T>A c.1541A>T (p.Glu514Val) | |
1 | g.54609407T>C | CA340441368 | ACOT11,FAM151A | c.1619A>G (p.Glu540Gly) c.*295T>C (n.*295T>C) c.1058A>G (p.Glu353Gly) c.1629+1339T>C (n.1629+1339T>C) n.2158T>C c.1541A>G (p.Glu514Gly) | |
1 | g.54609407T>G | CA340441363 | ACOT11,FAM151A | c.1619A>C (p.Glu540Ala) c.*295T>G (n.*295T>G) c.1058A>C (p.Glu353Ala) c.1629+1339T>G (n.1629+1339T>G) n.2158T>G c.1541A>C (p.Glu514Ala) | |
1 | g.54609408C>A | CA340441371 | ACOT11,FAM151A | c.1618G>T (p.Glu540Ter) c.*296C>A (n.*296C>A) c.1057G>T (p.Glu353Ter) c.1629+1340C>A (n.1629+1340C>A) n.2159C>A c.1540G>T (p.Glu514Ter) | gnomAD v4 |
1 | g.54609408C= | CA1167798470 | ACOT11,FAM151A | c.1618G= (p.Glu540=) c.*296C= (n.*296C=) c.1057G= (p.Glu353=) c.1629+1340C= (n.1629+1340C=) n.2159C= c.1540G= (p.Glu514=) | |
1 | g.54609408C>G | CA866859 | ACOT11,FAM151A | c.1618G>C (p.Glu540Gln) c.*296C>G (n.*296C>G) c.1057G>C (p.Glu353Gln) c.1629+1340C>G (n.1629+1340C>G) n.2159C>G c.1540G>C (p.Glu514Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.54609408C>T | CA340441374 | ACOT11,FAM151A | c.1618G>A (p.Glu540Lys) c.*296C>T (n.*296C>T) c.1057G>A (p.Glu353Lys) c.1629+1340C>T (n.1629+1340C>T) n.2159C>T c.1540G>A (p.Glu514Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.54609409C>A | CA418177335 | ACOT11,FAM151A | c.1617G>T (p.Val539=) c.*297C>A (n.*297C>A) c.1056G>T (p.Val352=) c.1629+1341C>A (n.1629+1341C>A) n.2160C>A c.1539G>T (p.Val513=) | |
1 | g.54609409C>G | CA418177334 | ACOT11,FAM151A | c.1617G>C (p.Val539=) c.*297C>G (n.*297C>G) c.1056G>C (p.Val352=) c.1629+1341C>G (n.1629+1341C>G) n.2160C>G c.1539G>C (p.Val513=) | |
1 | g.54609409C>T | CA418177337 | ACOT11,FAM151A | c.1617G>A (p.Val539=) c.*297C>T (n.*297C>T) c.1056G>A (p.Val352=) c.1629+1341C>T (n.1629+1341C>T) n.2160C>T c.1539G>A (p.Val513=) | |
1 | g.54609410A= | CA1167798471 | ACOT11,FAM151A | c.1616T= (p.Val539=) c.*298A= (n.*298A=) c.1055T= (p.Val352=) c.1629+1342A= (n.1629+1342A=) n.2161A= c.1538T= (p.Val513=) | |
1 | g.54609410A>C | CA340441376 | ACOT11,FAM151A | c.1616T>G (p.Val539Gly) c.*298A>C (n.*298A>C) c.1055T>G (p.Val352Gly) c.1629+1342A>C (n.1629+1342A>C) n.2161A>C c.1538T>G (p.Val513Gly) | |
1 | g.54609410A>G | CA340441379 | ACOT11,FAM151A | c.1616T>C (p.Val539Ala) c.*298A>G (n.*298A>G) c.1055T>C (p.Val352Ala) c.1629+1342A>G (n.1629+1342A>G) n.2161A>G c.1538T>C (p.Val513Ala) | dbSNP gnomAD v4 |
1 | g.54609410A>T | CA340441381 | ACOT11,FAM151A | c.1616T>A (p.Val539Glu) c.*298A>T (n.*298A>T) c.1055T>A (p.Val352Glu) c.1629+1342A>T (n.1629+1342A>T) n.2161A>T c.1538T>A (p.Val513Glu) | |
1 | g.54609411C>A | CA340441382 | ACOT11,FAM151A | c.1615G>T (p.Val539Leu) c.*299C>A (n.*299C>A) c.1054G>T (p.Val352Leu) c.1629+1343C>A (n.1629+1343C>A) n.2162C>A c.1537G>T (p.Val513Leu) | |
1 | g.54609411C>G | CA340441384 | ACOT11,FAM151A | c.1615G>C (p.Val539Leu) c.*299C>G (n.*299C>G) c.1054G>C (p.Val352Leu) c.1629+1343C>G (n.1629+1343C>G) n.2162C>G c.1537G>C (p.Val513Leu) | |
1 | g.54609411C>T | CA340441385 | ACOT11,FAM151A | c.1615G>A (p.Val539Met) c.*299C>T (n.*299C>T) c.1054G>A (p.Val352Met) c.1629+1343C>T (n.1629+1343C>T) n.2162C>T c.1537G>A (p.Val513Met) | gnomAD v4 |
1 | g.54609412T>A | CA418177341 | ACOT11,FAM151A | c.1614A>T (p.Thr538=) c.*300T>A (n.*300T>A) c.1053A>T (p.Thr351=) c.1629+1344T>A (n.1629+1344T>A) n.2163T>A c.1536A>T (p.Thr512=) | |
1 | g.54609412T>C | CA418177342 | ACOT11,FAM151A | c.1614A>G (p.Thr538=) c.*300T>C (n.*300T>C) c.1053A>G (p.Thr351=) c.1629+1344T>C (n.1629+1344T>C) n.2163T>C c.1536A>G (p.Thr512=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.54609412T>G | CA418177343 | ACOT11,FAM151A | c.1614A>C (p.Thr538=) c.*300T>G (n.*300T>G) c.1053A>C (p.Thr351=) c.1629+1344T>G (n.1629+1344T>G) n.2163T>G c.1536A>C (p.Thr512=) | |
1 | g.54609412T= | CA1167798472 | ACOT11,FAM151A | c.1614A= (p.Thr538=) c.*300T= (n.*300T=) c.1053A= (p.Thr351=) c.1629+1344T= (n.1629+1344T=) n.2163T= c.1536A= (p.Thr512=) | |
1 | g.54609413G>A | CA340441387 | ACOT11,FAM151A | c.1613C>T (p.Thr538Ile) c.*301G>A (n.*301G>A) c.1052C>T (p.Thr351Ile) c.1629+1345G>A (n.1629+1345G>A) n.2164G>A c.1535C>T (p.Thr512Ile) | dbSNP |
1 | g.54609413G>C | CA340441390 | ACOT11,FAM151A | c.1613C>G (p.Thr538Arg) c.*301G>C (n.*301G>C) c.1052C>G (p.Thr351Arg) c.1629+1345G>C (n.1629+1345G>C) n.2164G>C c.1535C>G (p.Thr512Arg) | |
1 | g.54609413G= | CA1167798473 | ACOT11,FAM151A | c.1613C= (p.Thr538=) c.*301G= (n.*301G=) c.1052C= (p.Thr351=) c.1629+1345G= (n.1629+1345G=) n.2164G= c.1535C= (p.Thr512=) | |
1 | g.54609413G>T | CA340441392 | ACOT11,FAM151A | c.1613C>A (p.Thr538Lys) c.*301G>T (n.*301G>T) c.1052C>A (p.Thr351Lys) c.1629+1345G>T (n.1629+1345G>T) n.2164G>T c.1535C>A (p.Thr512Lys) | |
1 | g.54609414T>A | CA340441400 | ACOT11,FAM151A | c.1612A>T (p.Thr538Ser) c.*302T>A (n.*302T>A) c.1051A>T (p.Thr351Ser) c.1629+1346T>A (n.1629+1346T>A) n.2165T>A c.1534A>T (p.Thr512Ser) | |
1 | g.54609414T>C | CA340441394 | ACOT11,FAM151A | c.1612A>G (p.Thr538Ala) c.*302T>C (n.*302T>C) c.1051A>G (p.Thr351Ala) c.1629+1346T>C (n.1629+1346T>C) n.2165T>C c.1534A>G (p.Thr512Ala) | |
1 | g.54609414T>G | CA340441397 | ACOT11,FAM151A | c.1612A>C (p.Thr538Pro) c.*302T>G (n.*302T>G) c.1051A>C (p.Thr351Pro) c.1629+1346T>G (n.1629+1346T>G) n.2165T>G c.1534A>C (p.Thr512Pro) | |
1 | g.54609415G>A | CA418177346 | ACOT11,FAM151A | c.1611C>T (p.Val537=) c.*303G>A (n.*303G>A) c.1050C>T (p.Val350=) c.1629+1347G>A (n.1629+1347G>A) n.2166G>A c.1533C>T (p.Val511=) | |
1 | g.54609415G>C | CA418177349 | ACOT11,FAM151A | c.1611C>G (p.Val537=) c.*303G>C (n.*303G>C) c.1050C>G (p.Val350=) c.1629+1347G>C (n.1629+1347G>C) n.2166G>C c.1533C>G (p.Val511=) | |
1 | g.54609415G>T | CA418177347 | ACOT11,FAM151A | c.1611C>A (p.Val537=) c.*303G>T (n.*303G>T) c.1050C>A (p.Val350=) c.1629+1347G>T (n.1629+1347G>T) n.2166G>T c.1533C>A (p.Val511=) | |
1 | g.54609416A= | CA1149155127 | ACOT11,FAM151A | c.1610T= (p.Val537=) c.*304A= (n.*304A=) c.1049T= (p.Val350=) c.1629+1348A= (n.1629+1348A=) n.2167A= c.1532T= (p.Val511=) | |
1 | g.54609416A>C | CA340441402 | ACOT11,FAM151A | c.1610T>G (p.Val537Gly) c.*304A>C (n.*304A>C) c.1049T>G (p.Val350Gly) c.1629+1348A>C (n.1629+1348A>C) n.2167A>C c.1532T>G (p.Val511Gly) | |
1 | g.54609416A>G | CA866860 | ACOT11,FAM151A | c.1610T>C (p.Val537Ala) c.*304A>G (n.*304A>G) c.1049T>C (p.Val350Ala) c.1629+1348A>G (n.1629+1348A>G) n.2167A>G c.1532T>C (p.Val511Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.54609416A>T | CA340441406 | ACOT11,FAM151A | c.1610T>A (p.Val537Asp) c.*304A>T (n.*304A>T) c.1049T>A (p.Val350Asp) c.1629+1348A>T (n.1629+1348A>T) n.2167A>T c.1532T>A (p.Val511Asp) | |
1 | g.54609417C>A | CA866862 | ACOT11,FAM151A | c.1609G>T (p.Val537Phe) c.*305C>A (n.*305C>A) c.1048G>T (p.Val350Phe) c.1629+1349C>A (n.1629+1349C>A) n.2168C>A c.1531G>T (p.Val511Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609417C= | CA1143366589 | ACOT11,FAM151A | c.1609G= (p.Val537=) c.*305C= (n.*305C=) c.1048G= (p.Val350=) c.1629+1349C= (n.1629+1349C=) n.2168C= c.1531G= (p.Val511=) | |
1 | g.54609417C>G | CA340441409 | ACOT11,FAM151A | c.1609G>C (p.Val537Leu) c.*305C>G (n.*305C>G) c.1048G>C (p.Val350Leu) c.1629+1349C>G (n.1629+1349C>G) n.2168C>G c.1531G>C (p.Val511Leu) | |
1 | g.54609417C>T | CA866861 | ACOT11,FAM151A | c.1609G>A (p.Val537Ile) c.*305C>T (n.*305C>T) c.1048G>A (p.Val350Ile) c.1629+1349C>T (n.1629+1349C>T) n.2168C>T c.1531G>A (p.Val511Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609418_54609423del | CA2574378711 | ACOT11,FAM151A | c.1604_1609del (p.Ala535_Thr536del) c.*306_*311del (n.*306_*311del) c.1043_1048del (p.Ala348_Thr349del) c.1629+1350_1629+1355del (n.1629+1350_1629+1355del) n.2169_2174del c.1526_1531del (p.Ala509_Thr510del) | |
1 | g.54609418G>A | CA866863 | ACOT11,FAM151A | c.1608C>T (p.Thr536=) c.*306G>A (n.*306G>A) c.1047C>T (p.Thr349=) c.1629+1350G>A (n.1629+1350G>A) n.2169G>A c.1530C>T (p.Thr510=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609418G>C | CA418177353 | ACOT11,FAM151A | c.1608C>G (p.Thr536=) c.*306G>C (n.*306G>C) c.1047C>G (p.Thr349=) c.1629+1350G>C (n.1629+1350G>C) n.2169G>C c.1530C>G (p.Thr510=) | |
1 | g.54609418G= | CA1141828893 | ACOT11,FAM151A | c.1608C= (p.Thr536=) c.*306G= (n.*306G=) c.1047C= (p.Thr349=) c.1629+1350G= (n.1629+1350G=) n.2169G= c.1530C= (p.Thr510=) | |
1 | g.54609418G>T | CA418177354 | ACOT11,FAM151A | c.1608C>A (p.Thr536=) c.*306G>T (n.*306G>T) c.1047C>A (p.Thr349=) c.1629+1350G>T (n.1629+1350G>T) n.2169G>T c.1530C>A (p.Thr510=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.54609419G>A | CA340441415 | ACOT11,FAM151A | c.1607C>T (p.Thr536Ile) c.*307G>A (n.*307G>A) c.1046C>T (p.Thr349Ile) c.1629+1351G>A (n.1629+1351G>A) n.2170G>A c.1529C>T (p.Thr510Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.54609419G>C | CA340441416 | ACOT11,FAM151A | c.1607C>G (p.Thr536Ser) c.*307G>C (n.*307G>C) c.1046C>G (p.Thr349Ser) c.1629+1351G>C (n.1629+1351G>C) n.2170G>C c.1529C>G (p.Thr510Ser) | |
1 | g.54609419G= | CA1167798474 | ACOT11,FAM151A | c.1607C= (p.Thr536=) c.*307G= (n.*307G=) c.1046C= (p.Thr349=) c.1629+1351G= (n.1629+1351G=) n.2170G= c.1529C= (p.Thr510=) | |
1 | g.54609419G>T | CA340441417 | ACOT11,FAM151A | c.1607C>A (p.Thr536Asn) c.*307G>T (n.*307G>T) c.1046C>A (p.Thr349Asn) c.1629+1351G>T (n.1629+1351G>T) n.2170G>T c.1529C>A (p.Thr510Asn) | |
1 | g.54609420T>A | CA340441420 | ACOT11,FAM151A | c.1606A>T (p.Thr536Ser) c.*308T>A (n.*308T>A) c.1045A>T (p.Thr349Ser) c.1629+1352T>A (n.1629+1352T>A) n.2171T>A c.1528A>T (p.Thr510Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609420T>C | CA340441423 | ACOT11,FAM151A | c.1606A>G (p.Thr536Ala) c.*308T>C (n.*308T>C) c.1045A>G (p.Thr349Ala) c.1629+1352T>C (n.1629+1352T>C) n.2171T>C c.1528A>G (p.Thr510Ala) | gnomAD v4 |
1 | g.54609420T>G | CA340441425 | ACOT11,FAM151A | c.1606A>C (p.Thr536Pro) c.*308T>G (n.*308T>G) c.1045A>C (p.Thr349Pro) c.1629+1352T>G (n.1629+1352T>G) n.2171T>G c.1528A>C (p.Thr510Pro) | |
1 | g.54609420T= | CA1167798475 | ACOT11,FAM151A | c.1606A= (p.Thr536=) c.*308T= (n.*308T=) c.1045A= (p.Thr349=) c.1629+1352T= (n.1629+1352T=) n.2171T= c.1528A= (p.Thr510=) | |
1 | g.54609421G>A | CA418177357 | ACOT11,FAM151A | c.1605C>T (p.Ala535=) c.*309G>A (n.*309G>A) c.1044C>T (p.Ala348=) c.1629+1353G>A (n.1629+1353G>A) n.2172G>A c.1527C>T (p.Ala509=) | gnomAD v4 |
1 | g.54609421G>C | CA418177359 | ACOT11,FAM151A | c.1605C>G (p.Ala535=) c.*309G>C (n.*309G>C) c.1044C>G (p.Ala348=) c.1629+1353G>C (n.1629+1353G>C) n.2172G>C c.1527C>G (p.Ala509=) | |
1 | g.54609421G>T | CA418177360 | ACOT11,FAM151A | c.1605C>A (p.Ala535=) c.*309G>T (n.*309G>T) c.1044C>A (p.Ala348=) c.1629+1353G>T (n.1629+1353G>T) n.2172G>T c.1527C>A (p.Ala509=) | |
1 | g.54609422G>A | CA340441430 | ACOT11,FAM151A | c.1604C>T (p.Ala535Val) c.*310G>A (n.*310G>A) c.1043C>T (p.Ala348Val) c.1629+1354G>A (n.1629+1354G>A) n.2173G>A c.1526C>T (p.Ala509Val) | |
1 | g.54609422G>C | CA340441431 | ACOT11,FAM151A | c.1604C>G (p.Ala535Gly) c.*310G>C (n.*310G>C) c.1043C>G (p.Ala348Gly) c.1629+1354G>C (n.1629+1354G>C) n.2173G>C c.1526C>G (p.Ala509Gly) | |
1 | g.54609422G>T | CA340441427 | ACOT11,FAM151A | c.1604C>A (p.Ala535Asp) c.*310G>T (n.*310G>T) c.1043C>A (p.Ala348Asp) c.1629+1354G>T (n.1629+1354G>T) n.2173G>T c.1526C>A (p.Ala509Asp) | |
1 | g.54609423C>A | CA340441434 | ACOT11,FAM151A | c.1603G>T (p.Ala535Ser) c.*311C>A (n.*311C>A) c.1042G>T (p.Ala348Ser) c.1629+1355C>A (n.1629+1355C>A) n.2174C>A c.1525G>T (p.Ala509Ser) | |
1 | g.54609423C= | CA1139949089 | ACOT11,FAM151A | c.1603G= (p.Ala535=) c.*311C= (n.*311C=) c.1042G= (p.Ala348=) c.1629+1355C= (n.1629+1355C=) n.2174C= c.1525G= (p.Ala509=) | |
1 | g.54609423C>G | CA22715436 | ACOT11,FAM151A | c.1603G>C (p.Ala535Pro) c.*311C>G (n.*311C>G) c.1042G>C (p.Ala348Pro) c.1629+1355C>G (n.1629+1355C>G) n.2174C>G c.1525G>C (p.Ala509Pro) | dbSNP |
1 | g.54609423C>T | CA340441437 | ACOT11,FAM151A | c.1603G>A (p.Ala535Thr) c.*311C>T (n.*311C>T) c.1042G>A (p.Ala348Thr) c.1629+1355C>T (n.1629+1355C>T) n.2174C>T c.1525G>A (p.Ala509Thr) | |
1 | g.54609425dup | CA2526498245 | ACOT11,FAM151A | c.1603dup (p.Ala535GlyfsTer25) c.*313dup (n.*313dup) c.1042dup (p.Ala348GlyfsTer25) c.1629+1357dup (n.1629+1357dup) n.2176dup c.1525dup (p.Ala509GlyfsTer25) | gnomAD v4 |
1 | g.54609424C>A | CA418177365 | ACOT11,FAM151A | c.1602G>T (p.Arg534=) c.*312C>A (n.*312C>A) c.1041G>T (p.Arg347=) c.1629+1356C>A (n.1629+1356C>A) n.2175C>A c.1524G>T (p.Arg508=) | |
1 | g.54609424C= | CA1144000341 | ACOT11,FAM151A | c.1602G= (p.Arg534=) c.*312C= (n.*312C=) c.1041G= (p.Arg347=) c.1629+1356C= (n.1629+1356C=) n.2175C= c.1524G= (p.Arg508=) | |
1 | g.54609424C>G | CA866864 | ACOT11,FAM151A | c.1602G>C (p.Arg534=) c.*312C>G (n.*312C>G) c.1041G>C (p.Arg347=) c.1629+1356C>G (n.1629+1356C>G) n.2175C>G c.1524G>C (p.Arg508=) | dbSNP ExAC |
1 | g.54609424C>T | CA418177364 | ACOT11,FAM151A | c.1602G>A (p.Arg534=) c.*312C>T (n.*312C>T) c.1041G>A (p.Arg347=) c.1629+1356C>T (n.1629+1356C>T) n.2175C>T c.1524G>A (p.Arg508=) | |
1 | g.54609425C>A | CA340441443 | ACOT11,FAM151A | c.1601G>T (p.Arg534Leu) c.*313C>A (n.*313C>A) c.1040G>T (p.Arg347Leu) c.1629+1357C>A (n.1629+1357C>A) n.2176C>A c.1523G>T (p.Arg508Leu) | |
1 | g.54609425C= | CA1167798476 | ACOT11,FAM151A | c.1601G= (p.Arg534=) c.*313C= (n.*313C=) c.1040G= (p.Arg347=) c.1629+1357C= (n.1629+1357C=) n.2176C= c.1523G= (p.Arg508=) | |
1 | g.54609425C>G | CA340441445 | ACOT11,FAM151A | c.1601G>C (p.Arg534Pro) c.*313C>G (n.*313C>G) c.1040G>C (p.Arg347Pro) c.1629+1357C>G (n.1629+1357C>G) n.2176C>G c.1523G>C (p.Arg508Pro) | |
1 | g.54609425C>T | CA866865 | ACOT11,FAM151A | c.1601G>A (p.Arg534Gln) c.*313C>T (n.*313C>T) c.1040G>A (p.Arg347Gln) c.1629+1357C>T (n.1629+1357C>T) n.2176C>T c.1523G>A (p.Arg508Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.54609425_54609426insA | CA523274620 | ACOT11,FAM151A | c.1600_1601insT (p.Arg534LeufsTer26) c.*313_*314insA (n.*313_*314insA) c.1039_1040insT (p.Arg347LeufsTer26) c.1629+1357_1629+1358insA (n.1629+1357_1629+1358insA) n.2176_2177insA c.1522_1523insT (p.Arg508LeufsTer26) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609425_54609426insCG | CA866866 | ACOT11,FAM151A | c.1600_1601insCG (p.Arg534ProfsTer19) c.*313_*314insCG (n.*313_*314insCG) c.1039_1040insCG (p.Arg347ProfsTer19) c.1629+1357_1629+1358insCG (n.1629+1357_1629+1358insCG) n.2176_2177insCG c.1522_1523insCG (p.Arg508ProfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.54609426G>A | CA866868 | ACOT11,FAM151A | c.1600C>T (p.Arg534Trp) c.*314G>A (n.*314G>A) c.1039C>T (p.Arg347Trp) c.1629+1358G>A (n.1629+1358G>A) n.2177G>A c.1522C>T (p.Arg508Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609426G>C | CA866867 | ACOT11,FAM151A | c.1600C>G (p.Arg534Gly) c.*314G>C (n.*314G>C) c.1039C>G (p.Arg347Gly) c.1629+1358G>C (n.1629+1358G>C) n.2177G>C c.1522C>G (p.Arg508Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609426G= | CA1140612322 | ACOT11,FAM151A | c.1600C= (p.Arg534=) c.*314G= (n.*314G=) c.1039C= (p.Arg347=) c.1629+1358G= (n.1629+1358G=) n.2177G= c.1522C= (p.Arg508=) | |
1 | g.54609426G>T | CA22715476 | ACOT11,FAM151A | c.1600C>A (p.Arg534=) c.*314G>T (n.*314G>T) c.1039C>A (p.Arg347=) c.1629+1358G>T (n.1629+1358G>T) n.2177G>T c.1522C>A (p.Arg508=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609431dup | CA523274618 | ACOT11,FAM151A | c.1600dup (p.Arg534ProfsTer26) c.*319dup (n.*319dup) c.1039dup (p.Arg347ProfsTer26) c.1629+1363dup (n.1629+1363dup) n.2182dup c.1522dup (p.Arg508ProfsTer26) | gnomAD v2 gnomAD v4 |
1 | g.54609431del | CA523274619 | ACOT11,FAM151A | c.1600del (p.Arg534GlyfsTer18) c.*319del (n.*319del) c.1039del (p.Arg347GlyfsTer18) c.1629+1363del (n.1629+1363del) n.2182del c.1522del (p.Arg508GlyfsTer18) | gnomAD v2 gnomAD v4 COSMIC |
1 | g.54609426_54609476delinsGGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCA | CA1167798477 | ACOT11,FAM151A | c.1550_1600delinsTGGGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGCATCCTCCCCCC (p.Leu517=) c.*314_*364delinsGGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCA (n.*314_*364delinsGGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCA) c.989_1039delinsTGGGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGCATCCTCCCCCC (p.Leu330=) c.1629+1358_1629+1408delinsGGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCA (n.1629+1358_1629+1408delinsGGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCA) n.2177_2227delinsGGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCA c.1472_1522delinsTGGGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGCATCCTCCCCCC (p.Leu491=) | |
1 | g.54609427G>A | CA418177371 | ACOT11,FAM151A | c.1599C>T (p.Pro533=) c.*315G>A (n.*315G>A) c.1038C>T (p.Pro346=) c.1629+1359G>A (n.1629+1359G>A) n.2178G>A c.1521C>T (p.Pro507=) | gnomAD v4 |
1 | g.54609427G>C | CA418177372 | ACOT11,FAM151A | c.1599C>G (p.Pro533=) c.*315G>C (n.*315G>C) c.1038C>G (p.Pro346=) c.1629+1359G>C (n.1629+1359G>C) n.2178G>C c.1521C>G (p.Pro507=) | gnomAD v4 |
1 | g.54609427G= | CA1167798478 | ACOT11,FAM151A | c.1599C= (p.Pro533=) c.*315G= (n.*315G=) c.1038C= (p.Pro346=) c.1629+1359G= (n.1629+1359G=) n.2178G= c.1521C= (p.Pro507=) | |
1 | g.54609427G>T | CA22715480 | ACOT11,FAM151A | c.1599C>A (p.Pro533=) c.*315G>T (n.*315G>T) c.1038C>A (p.Pro346=) c.1629+1359G>T (n.1629+1359G>T) n.2178G>T c.1521C>A (p.Pro507=) | dbSNP |
1 | g.54609427_54609477delinsGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCAG | CA1149043804 | ACOT11,FAM151A | c.1549_1599delinsCTGGGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGCATCCTCCCCC (p.Leu517=) c.*315_*365delinsGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCAG (n.*315_*365delinsGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCAG) c.988_1038delinsCTGGGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGCATCCTCCCCC (p.Leu330=) c.1629+1359_1629+1409delinsGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCAG (n.1629+1359_1629+1409delinsGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCAG) n.2178_2228delinsGGGGGAGGATGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGCCCAG c.1471_1521delinsCTGGGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGCATCCTCCCCC (p.Leu491=) | |
1 | g.54609428_54609477del | CA866869 | ACOT11,FAM151A | c.1550_1599del (p.Leu517ProfsTer26) c.*316_*365del (n.*316_*365del) c.989_1038del (p.Leu330ProfsTer26) c.1629+1360_1629+1409del (n.1629+1360_1629+1409del) n.2179_2228del c.1472_1521del (p.Leu491ProfsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.54609428G>A | CA340441458 | ACOT11,FAM151A | c.1598C>T (p.Pro533Leu) c.*316G>A (n.*316G>A) c.1037C>T (p.Pro346Leu) c.1629+1360G>A (n.1629+1360G>A) n.2179G>A c.1520C>T (p.Pro507Leu) | gnomAD v4 |
1 | g.54609428G>C | CA340441461 | ACOT11,FAM151A | c.1598C>G (p.Pro533Arg) c.*316G>C (n.*316G>C) c.1037C>G (p.Pro346Arg) c.1629+1360G>C (n.1629+1360G>C) n.2179G>C c.1520C>G (p.Pro507Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.54609428G= | CA1167798479 | ACOT11,FAM151A | c.1598C= (p.Pro533=) c.*316G= (n.*316G=) c.1037C= (p.Pro346=) c.1629+1360G= (n.1629+1360G=) n.2179G= c.1520C= (p.Pro507=) | |
1 | g.54609428G>T | CA340441463 | ACOT11,FAM151A | c.1598C>A (p.Pro533His) c.*316G>T (n.*316G>T) c.1037C>A (p.Pro346His) c.1629+1360G>T (n.1629+1360G>T) n.2179G>T c.1520C>A (p.Pro507His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.54609429G>A | CA340441466 | ACOT11,FAM151A | c.1597C>T (p.Pro533Ser) c.*317G>A (n.*317G>A) c.1036C>T (p.Pro346Ser) c.1629+1361G>A (n.1629+1361G>A) n.2180G>A c.1519C>T (p.Pro507Ser) | |
1 | g.54609429G>C | CA340441470 | ACOT11,FAM151A | c.1597C>G (p.Pro533Ala) c.*317G>C (n.*317G>C) c.1036C>G (p.Pro346Ala) c.1629+1361G>C (n.1629+1361G>C) n.2180G>C c.1519C>G (p.Pro507Ala) | |
1 | g.54609429G= | CA1167798480 | ACOT11,FAM151A | c.1597C= (p.Pro533=) c.*317G= (n.*317G=) c.1036C= (p.Pro346=) c.1629+1361G= (n.1629+1361G=) n.2180G= c.1519C= (p.Pro507=) | |
1 | g.54609429G>T | CA340441468 | ACOT11,FAM151A | c.1597C>A (p.Pro533Thr) c.*317G>T (n.*317G>T) c.1036C>A (p.Pro346Thr) c.1629+1361G>T (n.1629+1361G>T) n.2180G>T c.1519C>A (p.Pro507Thr) | dbSNP gnomAD v2 gnomAD v4 |