| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 1 | g.54609430G>A | CA418177376 | ACOT11,FAM151A | c.1596C>T (p.Ser532=) c.*318G>A (n.*318G>A) c.1035C>T (p.Ser345=) c.1629+1362G>A (n.1629+1362G>A) n.2181G>A c.1518C>T (p.Ser506=) | gnomAD v4 |
| 1 | g.54609430G>C | CA418177377 | ACOT11,FAM151A | c.1596C>G (p.Ser532=) c.*318G>C (n.*318G>C) c.1035C>G (p.Ser345=) c.1629+1362G>C (n.1629+1362G>C) n.2181G>C c.1518C>G (p.Ser506=) | |
| 1 | g.54609430G>T | CA418177378 | ACOT11,FAM151A | c.1596C>A (p.Ser532=) c.*318G>T (n.*318G>T) c.1035C>A (p.Ser345=) c.1629+1362G>T (n.1629+1362G>T) n.2181G>T c.1518C>A (p.Ser506=) | |
| 1 | g.54609431G>A | CA866870 | ACOT11,FAM151A | c.1595C>T (p.Ser532Phe) c.*319G>A (n.*319G>A) c.1034C>T (p.Ser345Phe) c.1629+1363G>A (n.1629+1363G>A) n.2182G>A c.1517C>T (p.Ser506Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54609431G>C | CA866871 | ACOT11,FAM151A | c.1595C>G (p.Ser532Cys) c.*319G>C (n.*319G>C) c.1034C>G (p.Ser345Cys) c.1629+1363G>C (n.1629+1363G>C) n.2182G>C c.1517C>G (p.Ser506Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609431G= | CA1148571646 | ACOT11,FAM151A | c.1595C= (p.Ser532=) c.*319G= (n.*319G=) c.1034C= (p.Ser345=) c.1629+1363G= (n.1629+1363G=) n.2182G= c.1517C= (p.Ser506=) | |
| 1 | g.54609431G>T | CA340441475 | ACOT11,FAM151A | c.1595C>A (p.Ser532Tyr) c.*319G>T (n.*319G>T) c.1034C>A (p.Ser345Tyr) c.1629+1363G>T (n.1629+1363G>T) n.2182G>T c.1517C>A (p.Ser506Tyr) | |
| 1 | g.54609432A>C | CA340441478 | ACOT11,FAM151A | c.1594T>G (p.Ser532Ala) c.*320A>C (n.*320A>C) c.1033T>G (p.Ser345Ala) c.1629+1364A>C (n.1629+1364A>C) n.2183A>C c.1516T>G (p.Ser506Ala) | |
| 1 | g.54609432A>G | CA340441481 | ACOT11,FAM151A | c.1594T>C (p.Ser532Pro) c.*320A>G (n.*320A>G) c.1033T>C (p.Ser345Pro) c.1629+1364A>G (n.1629+1364A>G) n.2183A>G c.1516T>C (p.Ser506Pro) | gnomAD v4 |
| 1 | g.54609432A>T | CA340441483 | ACOT11,FAM151A | c.1594T>A (p.Ser532Thr) c.*320A>T (n.*320A>T) c.1033T>A (p.Ser345Thr) c.1629+1364A>T (n.1629+1364A>T) n.2183A>T c.1516T>A (p.Ser506Thr) | |
| 1 | g.54609433G>A | CA418177382 | ACOT11,FAM151A | c.1593C>T (p.Ser531=) c.*321G>A (n.*321G>A) c.1032C>T (p.Ser344=) c.1629+1365G>A (n.1629+1365G>A) n.2184G>A c.1515C>T (p.Ser505=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54609433G>C | CA418177380 | ACOT11,FAM151A | c.1593C>G (p.Ser531=) c.*321G>C (n.*321G>C) c.1032C>G (p.Ser344=) c.1629+1365G>C (n.1629+1365G>C) n.2184G>C c.1515C>G (p.Ser505=) | |
| 1 | g.54609433G= | CA1167798481 | ACOT11,FAM151A | c.1593C= (p.Ser531=) c.*321G= (n.*321G=) c.1032C= (p.Ser344=) c.1629+1365G= (n.1629+1365G=) n.2184G= c.1515C= (p.Ser505=) | |
| 1 | g.54609433G>T | CA418177381 | ACOT11,FAM151A | c.1593C>A (p.Ser531=) c.*321G>T (n.*321G>T) c.1032C>A (p.Ser344=) c.1629+1365G>T (n.1629+1365G>T) n.2184G>T c.1515C>A (p.Ser505=) | |
| 1 | g.54609434G>A | CA340441485 | ACOT11,FAM151A | c.1592C>T (p.Ser531Phe) c.*322G>A (n.*322G>A) c.1031C>T (p.Ser344Phe) c.1629+1366G>A (n.1629+1366G>A) n.2185G>A c.1514C>T (p.Ser505Phe) | dbSNP gnomAD v4 |
| 1 | g.54609434G>C | CA340441487 | ACOT11,FAM151A | c.1592C>G (p.Ser531Cys) c.*322G>C (n.*322G>C) c.1031C>G (p.Ser344Cys) c.1629+1366G>C (n.1629+1366G>C) n.2185G>C c.1514C>G (p.Ser505Cys) | |
| 1 | g.54609434G= | CA1167798482 | ACOT11,FAM151A | c.1592C= (p.Ser531=) c.*322G= (n.*322G=) c.1031C= (p.Ser344=) c.1629+1366G= (n.1629+1366G=) n.2185G= c.1514C= (p.Ser505=) | |
| 1 | g.54609434G>T | CA340441490 | ACOT11,FAM151A | c.1592C>A (p.Ser531Tyr) c.*322G>T (n.*322G>T) c.1031C>A (p.Ser344Tyr) c.1629+1366G>T (n.1629+1366G>T) n.2185G>T c.1514C>A (p.Ser505Tyr) | |
| 1 | g.54609435A>C | CA340441492 | ACOT11,FAM151A | c.1591T>G (p.Ser531Ala) c.*323A>C (n.*323A>C) c.1030T>G (p.Ser344Ala) c.1629+1367A>C (n.1629+1367A>C) n.2186A>C c.1513T>G (p.Ser505Ala) | |
| 1 | g.54609435A>G | CA340441495 | ACOT11,FAM151A | c.1591T>C (p.Ser531Pro) c.*323A>G (n.*323A>G) c.1030T>C (p.Ser344Pro) c.1629+1367A>G (n.1629+1367A>G) n.2186A>G c.1513T>C (p.Ser505Pro) | |
| 1 | g.54609435A>T | CA340441498 | ACOT11,FAM151A | c.1591T>A (p.Ser531Thr) c.*323A>T (n.*323A>T) c.1030T>A (p.Ser344Thr) c.1629+1367A>T (n.1629+1367A>T) n.2186A>T c.1513T>A (p.Ser505Thr) | gnomAD v4 |
| 1 | g.54609436T>A | CA418177386 | ACOT11,FAM151A | c.1590A>T (p.Ala530=) c.*324T>A (n.*324T>A) c.1029A>T (p.Ala343=) c.1629+1368T>A (n.1629+1368T>A) n.2187T>A c.1512A>T (p.Ala504=) | |
| 1 | g.54609436T>C | CA418177387 | ACOT11,FAM151A | c.1590A>G (p.Ala530=) c.*324T>C (n.*324T>C) c.1029A>G (p.Ala343=) c.1629+1368T>C (n.1629+1368T>C) n.2187T>C c.1512A>G (p.Ala504=) | |
| 1 | g.54609436T>G | CA418177388 | ACOT11,FAM151A | c.1590A>C (p.Ala530=) c.*324T>G (n.*324T>G) c.1029A>C (p.Ala343=) c.1629+1368T>G (n.1629+1368T>G) n.2187T>G c.1512A>C (p.Ala504=) | |
| 1 | g.54609437G>A | CA340441501 | ACOT11,FAM151A | c.1589C>T (p.Ala530Val) c.*325G>A (n.*325G>A) c.1028C>T (p.Ala343Val) c.1629+1369G>A (n.1629+1369G>A) n.2188G>A c.1511C>T (p.Ala504Val) | |
| 1 | g.54609437G>C | CA340441505 | ACOT11,FAM151A | c.1589C>G (p.Ala530Gly) c.*325G>C (n.*325G>C) c.1028C>G (p.Ala343Gly) c.1629+1369G>C (n.1629+1369G>C) n.2188G>C c.1511C>G (p.Ala504Gly) | |
| 1 | g.54609437G>T | CA340441504 | ACOT11,FAM151A | c.1589C>A (p.Ala530Glu) c.*325G>T (n.*325G>T) c.1028C>A (p.Ala343Glu) c.1629+1369G>T (n.1629+1369G>T) n.2188G>T c.1511C>A (p.Ala504Glu) | |
| 1 | g.54609437_54609473delinsGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGC | CA1167798483 | ACOT11,FAM151A | c.1553_1589delinsGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGC (p.Gly518=) c.*325_*361delinsGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGC (n.*325_*361delinsGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGC) c.992_1028delinsGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGC (p.Gly331=) c.1629+1369_1629+1405delinsGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGC (n.1629+1369_1629+1405delinsGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGC) n.2188_2224delinsGCCAGCAGCCTGCCTATGGCTCCAGCTGTGCTGTGGC c.1475_1511delinsGCCACAGCACAGCTGGAGCCATAGGCAGGCTGCTGGC (p.Gly492=) | |
| 1 | g.54609438C>A | CA340441508 | ACOT11,FAM151A | c.1588G>T (p.Ala530Ser) c.*326C>A (n.*326C>A) c.1027G>T (p.Ala343Ser) c.1629+1370C>A (n.1629+1370C>A) n.2189C>A c.1510G>T (p.Ala504Ser) | |
| 1 | g.54609438C>G | CA340441511 | ACOT11,FAM151A | c.1588G>C (p.Ala530Pro) c.*326C>G (n.*326C>G) c.1027G>C (p.Ala343Pro) c.1629+1370C>G (n.1629+1370C>G) n.2189C>G c.1510G>C (p.Ala504Pro) | |
| 1 | g.54609438C>T | CA340441514 | ACOT11,FAM151A | c.1588G>A (p.Ala530Thr) c.*326C>T (n.*326C>T) c.1027G>A (p.Ala343Thr) c.1629+1370C>T (n.1629+1370C>T) n.2189C>T c.1510G>A (p.Ala504Thr) | |
| 1 | g.54609446_54609481del | CA866872 | ACOT11,FAM151A | c.1553_1588del (p.Gly518_Leu529del) c.*334_*369del (n.*334_*369del) c.992_1027del (p.Gly331_Leu342del) c.1629+1378_1629+1413del (n.1629+1378_1629+1413del) n.2197_2232del c.1475_1510del (p.Gly492_Leu503del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609439C>A | CA418177394 | ACOT11,FAM151A | c.1587G>T (p.Leu529=) c.*327C>A (n.*327C>A) c.1026G>T (p.Leu342=) c.1629+1371C>A (n.1629+1371C>A) n.2190C>A c.1509G>T (p.Leu503=) | |
| 1 | g.54609439C>G | CA418177396 | ACOT11,FAM151A | c.1587G>C (p.Leu529=) c.*327C>G (n.*327C>G) c.1026G>C (p.Leu342=) c.1629+1371C>G (n.1629+1371C>G) n.2190C>G c.1509G>C (p.Leu503=) | |
| 1 | g.54609439C>T | CA418177398 | ACOT11,FAM151A | c.1587G>A (p.Leu529=) c.*327C>T (n.*327C>T) c.1026G>A (p.Leu342=) c.1629+1371C>T (n.1629+1371C>T) n.2190C>T c.1509G>A (p.Leu503=) | |
| 1 | g.54609440A>C | CA340441517 | ACOT11,FAM151A | c.1586T>G (p.Leu529Arg) c.*328A>C (n.*328A>C) c.1025T>G (p.Leu342Arg) c.1629+1372A>C (n.1629+1372A>C) n.2191A>C c.1508T>G (p.Leu503Arg) | |
| 1 | g.54609440A>G | CA340441519 | ACOT11,FAM151A | c.1586T>C (p.Leu529Pro) c.*328A>G (n.*328A>G) c.1025T>C (p.Leu342Pro) c.1629+1372A>G (n.1629+1372A>G) n.2191A>G c.1508T>C (p.Leu503Pro) | |
| 1 | g.54609440A>T | CA340441521 | ACOT11,FAM151A | c.1586T>A (p.Leu529Gln) c.*328A>T (n.*328A>T) c.1025T>A (p.Leu342Gln) c.1629+1372A>T (n.1629+1372A>T) n.2191A>T c.1508T>A (p.Leu503Gln) | |
| 1 | g.54609441G>A | CA866873 | ACOT11,FAM151A | c.1585C>T (p.Leu529=) c.*329G>A (n.*329G>A) c.1024C>T (p.Leu342=) c.1629+1373G>A (n.1629+1373G>A) n.2192G>A c.1507C>T (p.Leu503=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54609441G>C | CA340441524 | ACOT11,FAM151A | c.1585C>G (p.Leu529Val) c.*329G>C (n.*329G>C) c.1024C>G (p.Leu342Val) c.1629+1373G>C (n.1629+1373G>C) n.2192G>C c.1507C>G (p.Leu503Val) | |
| 1 | g.54609441G= | CA1139988738 | ACOT11,FAM151A | c.1585C= (p.Leu529=) c.*329G= (n.*329G=) c.1024C= (p.Leu342=) c.1629+1373G= (n.1629+1373G=) n.2192G= c.1507C= (p.Leu503=) | |
| 1 | g.54609441G>T | CA22715502 | ACOT11,FAM151A | c.1585C>A (p.Leu529Met) c.*329G>T (n.*329G>T) c.1024C>A (p.Leu342Met) c.1629+1373G>T (n.1629+1373G>T) n.2192G>T c.1507C>A (p.Leu503Met) | dbSNP |
| 1 | g.54609442C>A | CA418177402 | ACOT11,FAM151A | c.1584G>T (p.Leu528=) c.*330C>A (n.*330C>A) c.1023G>T (p.Leu341=) c.1629+1374C>A (n.1629+1374C>A) n.2193C>A c.1506G>T (p.Leu502=) | |
| 1 | g.54609442C>G | CA418177403 | ACOT11,FAM151A | c.1584G>C (p.Leu528=) c.*330C>G (n.*330C>G) c.1023G>C (p.Leu341=) c.1629+1374C>G (n.1629+1374C>G) n.2193C>G c.1506G>C (p.Leu502=) | |
| 1 | g.54609442C>T | CA418177404 | ACOT11,FAM151A | c.1584G>A (p.Leu528=) c.*330C>T (n.*330C>T) c.1023G>A (p.Leu341=) c.1629+1374C>T (n.1629+1374C>T) n.2193C>T c.1506G>A (p.Leu502=) | gnomAD v4 |
| 1 | g.54609443A= | CA1167798484 | ACOT11,FAM151A | c.1583T= (p.Leu528=) c.*331A= (n.*331A=) c.1022T= (p.Leu341=) c.1629+1375A= (n.1629+1375A=) n.2194A= c.1505T= (p.Leu502=) | |
| 1 | g.54609443A>C | CA340441527 | ACOT11,FAM151A | c.1583T>G (p.Leu528Arg) c.*331A>C (n.*331A>C) c.1022T>G (p.Leu341Arg) c.1629+1375A>C (n.1629+1375A>C) n.2194A>C c.1505T>G (p.Leu502Arg) | dbSNP gnomAD v4 |
| 1 | g.54609443A>G | CA340441528 | ACOT11,FAM151A | c.1583T>C (p.Leu528Pro) c.*331A>G (n.*331A>G) c.1022T>C (p.Leu341Pro) c.1629+1375A>G (n.1629+1375A>G) n.2194A>G c.1505T>C (p.Leu502Pro) | |
| 1 | g.54609443A>T | CA340441530 | ACOT11,FAM151A | c.1583T>A (p.Leu528Gln) c.*331A>T (n.*331A>T) c.1022T>A (p.Leu341Gln) c.1629+1375A>T (n.1629+1375A>T) n.2194A>T c.1505T>A (p.Leu502Gln) | |
| 1 | g.54609444G>A | CA866874 | ACOT11,FAM151A | c.1582C>T (p.Leu528=) c.*332G>A (n.*332G>A) c.1021C>T (p.Leu341=) c.1629+1376G>A (n.1629+1376G>A) n.2195G>A c.1504C>T (p.Leu502=) | dbSNP ExAC gnomAD v2 COSMIC |
| 1 | g.54609444G>C | CA340441533 | ACOT11,FAM151A | c.1582C>G (p.Leu528Val) c.*332G>C (n.*332G>C) c.1021C>G (p.Leu341Val) c.1629+1376G>C (n.1629+1376G>C) n.2195G>C c.1504C>G (p.Leu502Val) | |
| 1 | g.54609444G= | CA1148432950 | ACOT11,FAM151A | c.1582C= (p.Leu528=) c.*332G= (n.*332G=) c.1021C= (p.Leu341=) c.1629+1376G= (n.1629+1376G=) n.2195G= c.1504C= (p.Leu502=) | |
| 1 | g.54609444G>T | CA340441534 | ACOT11,FAM151A | c.1582C>A (p.Leu528Met) c.*332G>T (n.*332G>T) c.1021C>A (p.Leu341Met) c.1629+1376G>T (n.1629+1376G>T) n.2195G>T c.1504C>A (p.Leu502Met) | |
| 1 | g.54609445C>A | CA340441538 | ACOT11,FAM151A | c.1581G>T (p.Arg527Ser) c.*333C>A (n.*333C>A) c.1020G>T (p.Arg340Ser) c.1629+1377C>A (n.1629+1377C>A) n.2196C>A c.1503G>T (p.Arg501Ser) | |
| 1 | g.54609445C= | CA1167798485 | ACOT11,FAM151A | c.1581G= (p.Arg527=) c.*333C= (n.*333C=) c.1020G= (p.Arg340=) c.1629+1377C= (n.1629+1377C=) n.2196C= c.1503G= (p.Arg501=) | |
| 1 | g.54609445C>G | CA340441539 | ACOT11,FAM151A | c.1581G>C (p.Arg527Ser) c.*333C>G (n.*333C>G) c.1020G>C (p.Arg340Ser) c.1629+1377C>G (n.1629+1377C>G) n.2196C>G c.1503G>C (p.Arg501Ser) | |
| 1 | g.54609445C>T | CA866875 | ACOT11,FAM151A | c.1581G>A (p.Arg527=) c.*333C>T (n.*333C>T) c.1020G>A (p.Arg340=) c.1629+1377C>T (n.1629+1377C>T) n.2196C>T c.1503G>A (p.Arg501=) | dbSNP ExAC gnomAD v2 COSMIC |
| 1 | g.54609446C>A | CA340441542 | ACOT11,FAM151A | c.1580G>T (p.Arg527Met) c.*334C>A (n.*334C>A) c.1019G>T (p.Arg340Met) c.1629+1378C>A (n.1629+1378C>A) n.2197C>A c.1502G>T (p.Arg501Met) | |
| 1 | g.54609446C= | CA1142333300 | ACOT11,FAM151A | c.1580G= (p.Arg527=) c.*334C= (n.*334C=) c.1019G= (p.Arg340=) c.1629+1378C= (n.1629+1378C=) n.2197C= c.1502G= (p.Arg501=) | |
| 1 | g.54609446C>G | CA866876 | ACOT11,FAM151A | c.1580G>C (p.Arg527Thr) c.*334C>G (n.*334C>G) c.1019G>C (p.Arg340Thr) c.1629+1378C>G (n.1629+1378C>G) n.2197C>G c.1502G>C (p.Arg501Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609446C>T | CA340441543 | ACOT11,FAM151A | c.1580G>A (p.Arg527Lys) c.*334C>T (n.*334C>T) c.1019G>A (p.Arg340Lys) c.1629+1378C>T (n.1629+1378C>T) n.2197C>T c.1502G>A (p.Arg501Lys) | |
| 1 | g.54609446_54609464del | CA523274622 | ACOT11,FAM151A | c.1562_1580del (p.Thr521SerfsTer25) c.*334_*352del (n.*334_*352del) c.1001_1019del (p.Thr334SerfsTer25) c.1629+1378_1629+1396del (n.1629+1378_1629+1396del) n.2197_2215del c.1484_1502del (p.Thr495SerfsTer25) | gnomAD v2 gnomAD v4 |
| 1 | g.54609447T>A | CA340441546 | ACOT11,FAM151A | c.1579A>T (p.Arg527Trp) c.*335T>A (n.*335T>A) c.1018A>T (p.Arg340Trp) c.1629+1379T>A (n.1629+1379T>A) n.2198T>A c.1501A>T (p.Arg501Trp) | |
| 1 | g.54609447T>C | CA340441547 | ACOT11,FAM151A | c.1579A>G (p.Arg527Gly) c.*335T>C (n.*335T>C) c.1018A>G (p.Arg340Gly) c.1629+1379T>C (n.1629+1379T>C) n.2198T>C c.1501A>G (p.Arg501Gly) | |
| 1 | g.54609447T>G | CA418177412 | ACOT11,FAM151A | c.1579A>C (p.Arg527=) c.*335T>G (n.*335T>G) c.1018A>C (p.Arg340=) c.1629+1379T>G (n.1629+1379T>G) n.2198T>G c.1501A>C (p.Arg501=) | |
| 1 | g.54609447_54609448insAT | CA866877 | ACOT11,FAM151A | c.1579_1580insTA (p.Arg527IlefsTer26) c.*335_*336insAT (n.*335_*336insAT) c.1018_1019insTA (p.Arg340IlefsTer26) c.1629+1379_1629+1380insAT (n.1629+1379_1629+1380insAT) n.2198_2199insAT c.1501_1502insTA (p.Arg501IlefsTer26) | dbSNP ExAC gnomAD v2 |
| 1 | g.54609448G>A | CA418177413 | ACOT11,FAM151A | c.1578C>T (p.Gly526=) c.*336G>A (n.*336G>A) c.1017C>T (p.Gly339=) c.1629+1380G>A (n.1629+1380G>A) n.2199G>A c.1500C>T (p.Gly500=) | |
| 1 | g.54609448G>C | CA418177414 | ACOT11,FAM151A | c.1578C>G (p.Gly526=) c.*336G>C (n.*336G>C) c.1017C>G (p.Gly339=) c.1629+1380G>C (n.1629+1380G>C) n.2199G>C c.1500C>G (p.Gly500=) | |
| 1 | g.54609448G>T | CA418177415 | ACOT11,FAM151A | c.1578C>A (p.Gly526=) c.*336G>T (n.*336G>T) c.1017C>A (p.Gly339=) c.1629+1380G>T (n.1629+1380G>T) n.2199G>T c.1500C>A (p.Gly500=) | gnomAD v4 |
| 1 | g.54609449C>A | CA340441549 | ACOT11,FAM151A | c.1577G>T (p.Gly526Val) c.*337C>A (n.*337C>A) c.1016G>T (p.Gly339Val) c.1629+1381C>A (n.1629+1381C>A) n.2200C>A c.1499G>T (p.Gly500Val) | |
| 1 | g.54609449C= | CA1140245973 | ACOT11,FAM151A | c.1577G= (p.Gly526=) c.*337C= (n.*337C=) c.1016G= (p.Gly339=) c.1629+1381C= (n.1629+1381C=) n.2200C= c.1499G= (p.Gly500=) | |
| 1 | g.54609449C>G | CA866878 | ACOT11,FAM151A | c.1577G>C (p.Gly526Ala) c.*337C>G (n.*337C>G) c.1016G>C (p.Gly339Ala) c.1629+1381C>G (n.1629+1381C>G) n.2200C>G c.1499G>C (p.Gly500Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609449C>T | CA340441550 | ACOT11,FAM151A | c.1577G>A (p.Gly526Asp) c.*337C>T (n.*337C>T) c.1016G>A (p.Gly339Asp) c.1629+1381C>T (n.1629+1381C>T) n.2200C>T c.1499G>A (p.Gly500Asp) | |
| 1 | g.54609449_54609466delinsCCTATGGCTCCAGCTGTG | CA1167798486 | ACOT11,FAM151A | c.1560_1577delinsCACAGCTGGAGCCATAGG (p.Ser520=) c.*337_*354delinsCCTATGGCTCCAGCTGTG (n.*337_*354delinsCCTATGGCTCCAGCTGTG) c.999_1016delinsCACAGCTGGAGCCATAGG (p.Ser333=) c.1629+1381_1629+1398delinsCCTATGGCTCCAGCTGTG (n.1629+1381_1629+1398delinsCCTATGGCTCCAGCTGTG) n.2200_2217delinsCCTATGGCTCCAGCTGTG c.1482_1499delinsCACAGCTGGAGCCATAGG (p.Ser494=) | |
| 1 | g.54609450C>A | CA340441557 | ACOT11,FAM151A | c.1576G>T (p.Gly526Cys) c.*338C>A (n.*338C>A) c.1015G>T (p.Gly339Cys) c.1629+1382C>A (n.1629+1382C>A) n.2201C>A c.1498G>T (p.Gly500Cys) | |
| 1 | g.54609450C>G | CA340441553 | ACOT11,FAM151A | c.1576G>C (p.Gly526Arg) c.*338C>G (n.*338C>G) c.1015G>C (p.Gly339Arg) c.1629+1382C>G (n.1629+1382C>G) n.2201C>G c.1498G>C (p.Gly500Arg) | |
| 1 | g.54609450C>T | CA340441555 | ACOT11,FAM151A | c.1576G>A (p.Gly526Ser) c.*338C>T (n.*338C>T) c.1015G>A (p.Gly339Ser) c.1629+1382C>T (n.1629+1382C>T) n.2201C>T c.1498G>A (p.Gly500Ser) | |
| 1 | g.54609450_54609468delinsCTATGGCTCCAGCTGTGCT | CA1148236303 | ACOT11,FAM151A | c.1558_1576delinsAGCACAGCTGGAGCCATAG (p.Ser520=) c.*338_*356delinsCTATGGCTCCAGCTGTGCT (n.*338_*356delinsCTATGGCTCCAGCTGTGCT) c.997_1015delinsAGCACAGCTGGAGCCATAG (p.Ser333=) c.1629+1382_1629+1400delinsCTATGGCTCCAGCTGTGCT (n.1629+1382_1629+1400delinsCTATGGCTCCAGCTGTGCT) n.2201_2219delinsCTATGGCTCCAGCTGTGCT c.1480_1498delinsAGCACAGCTGGAGCCATAG (p.Ser494=) | |
| 1 | g.54609452_54609468del | CA866879 | ACOT11,FAM151A | c.1560_1576del (p.Ser520ArgfsTer?) c.*340_*356del (n.*340_*356del) c.999_1015del (p.Ser333ArgfsTer?) c.1629+1384_1629+1400del (n.1629+1384_1629+1400del) n.2203_2219del c.1482_1498del (p.Ser494ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609451T>A | CA418177419 | ACOT11,FAM151A | c.1575A>T (p.Ile525=) c.*339T>A (n.*339T>A) c.1014A>T (p.Ile338=) c.1629+1383T>A (n.1629+1383T>A) n.2202T>A c.1497A>T (p.Ile499=) | |
| 1 | g.54609451T>C | CA340441558 | ACOT11,FAM151A | c.1575A>G (p.Ile525Met) c.*339T>C (n.*339T>C) c.1014A>G (p.Ile338Met) c.1629+1383T>C (n.1629+1383T>C) n.2202T>C c.1497A>G (p.Ile499Met) | COSMIC |
| 1 | g.54609451T>G | CA418177420 | ACOT11,FAM151A | c.1575A>C (p.Ile525=) c.*339T>G (n.*339T>G) c.1014A>C (p.Ile338=) c.1629+1383T>G (n.1629+1383T>G) n.2202T>G c.1497A>C (p.Ile499=) | |
| 1 | g.54609452A>C | CA340441562 | ACOT11,FAM151A | c.1574T>G (p.Ile525Arg) c.*340A>C (n.*340A>C) c.1013T>G (p.Ile338Arg) c.1629+1384A>C (n.1629+1384A>C) n.2203A>C c.1496T>G (p.Ile499Arg) | |
| 1 | g.54609452A>G | CA340441560 | ACOT11,FAM151A | c.1574T>C (p.Ile525Thr) c.*340A>G (n.*340A>G) c.1013T>C (p.Ile338Thr) c.1629+1384A>G (n.1629+1384A>G) n.2203A>G c.1496T>C (p.Ile499Thr) | |
| 1 | g.54609452A>T | CA340441564 | ACOT11,FAM151A | c.1574T>A (p.Ile525Lys) c.*340A>T (n.*340A>T) c.1013T>A (p.Ile338Lys) c.1629+1384A>T (n.1629+1384A>T) n.2203A>T c.1496T>A (p.Ile499Lys) | |
| 1 | g.54609453T>A | CA340441565 | ACOT11,FAM151A | c.1573A>T (p.Ile525Leu) c.*341T>A (n.*341T>A) c.1012A>T (p.Ile338Leu) c.1629+1385T>A (n.1629+1385T>A) n.2204T>A c.1495A>T (p.Ile499Leu) | |
| 1 | g.54609453T>C | CA340441567 | ACOT11,FAM151A | c.1573A>G (p.Ile525Val) c.*341T>C (n.*341T>C) c.1012A>G (p.Ile338Val) c.1629+1385T>C (n.1629+1385T>C) n.2204T>C c.1495A>G (p.Ile499Val) | |
| 1 | g.54609453T>G | CA340441569 | ACOT11,FAM151A | c.1573A>C (p.Ile525Leu) c.*341T>G (n.*341T>G) c.1012A>C (p.Ile338Leu) c.1629+1385T>G (n.1629+1385T>G) n.2204T>G c.1495A>C (p.Ile499Leu) | |
| 1 | g.54609454G>A | CA418177423 | ACOT11,FAM151A | c.1572C>T (p.Ala524=) c.*342G>A (n.*342G>A) c.1011C>T (p.Ala337=) c.1629+1386G>A (n.1629+1386G>A) n.2205G>A c.1494C>T (p.Ala498=) | |
| 1 | g.54609454G>C | CA418177424 | ACOT11,FAM151A | c.1572C>G (p.Ala524=) c.*342G>C (n.*342G>C) c.1011C>G (p.Ala337=) c.1629+1386G>C (n.1629+1386G>C) n.2205G>C c.1494C>G (p.Ala498=) | |
| 1 | g.54609454G>T | CA418177425 | ACOT11,FAM151A | c.1572C>A (p.Ala524=) c.*342G>T (n.*342G>T) c.1011C>A (p.Ala337=) c.1629+1386G>T (n.1629+1386G>T) n.2205G>T c.1494C>A (p.Ala498=) | |
| 1 | g.54609455G>A | CA340441570 | ACOT11,FAM151A | c.1571C>T (p.Ala524Val) c.*343G>A (n.*343G>A) c.1010C>T (p.Ala337Val) c.1629+1387G>A (n.1629+1387G>A) n.2206G>A c.1493C>T (p.Ala498Val) | gnomAD v4 |
| 1 | g.54609455G>C | CA340441572 | ACOT11,FAM151A | c.1571C>G (p.Ala524Gly) c.*343G>C (n.*343G>C) c.1010C>G (p.Ala337Gly) c.1629+1387G>C (n.1629+1387G>C) n.2206G>C c.1493C>G (p.Ala498Gly) | |
| 1 | g.54609455G>T | CA340441574 | ACOT11,FAM151A | c.1571C>A (p.Ala524Asp) c.*343G>T (n.*343G>T) c.1010C>A (p.Ala337Asp) c.1629+1387G>T (n.1629+1387G>T) n.2206G>T c.1493C>A (p.Ala498Asp) | |
| 1 | g.54609456C>A | CA340441576 | ACOT11,FAM151A | c.1570G>T (p.Ala524Ser) c.*344C>A (n.*344C>A) c.1009G>T (p.Ala337Ser) c.1629+1388C>A (n.1629+1388C>A) n.2207C>A c.1492G>T (p.Ala498Ser) | |
| 1 | g.54609456C>G | CA340441577 | ACOT11,FAM151A | c.1570G>C (p.Ala524Pro) c.*344C>G (n.*344C>G) c.1009G>C (p.Ala337Pro) c.1629+1388C>G (n.1629+1388C>G) n.2207C>G c.1492G>C (p.Ala498Pro) | |
| 1 | g.54609456C>T | CA340441579 | ACOT11,FAM151A | c.1570G>A (p.Ala524Thr) c.*344C>T (n.*344C>T) c.1009G>A (p.Ala337Thr) c.1629+1388C>T (n.1629+1388C>T) n.2207C>T c.1492G>A (p.Ala498Thr) | gnomAD v4 |
| 1 | g.54609457T>A | CA418177428 | ACOT11,FAM151A | c.1569A>T (p.Gly523=) c.*345T>A (n.*345T>A) c.1008A>T (p.Gly336=) c.1629+1389T>A (n.1629+1389T>A) n.2208T>A c.1491A>T (p.Gly497=) | |
| 1 | g.54609457T>C | CA418177430 | ACOT11,FAM151A | c.1569A>G (p.Gly523=) c.*345T>C (n.*345T>C) c.1008A>G (p.Gly336=) c.1629+1389T>C (n.1629+1389T>C) n.2208T>C c.1491A>G (p.Gly497=) | gnomAD v4 |
| 1 | g.54609457T>G | CA418177429 | ACOT11,FAM151A | c.1569A>C (p.Gly523=) c.*345T>G (n.*345T>G) c.1008A>C (p.Gly336=) c.1629+1389T>G (n.1629+1389T>G) n.2208T>G c.1491A>C (p.Gly497=) | |
| 1 | g.54609458C>A | CA340441581 | ACOT11,FAM151A | c.1568G>T (p.Gly523Val) c.*346C>A (n.*346C>A) c.1007G>T (p.Gly336Val) c.1629+1390C>A (n.1629+1390C>A) n.2209C>A c.1490G>T (p.Gly497Val) | |
| 1 | g.54609458C>G | CA340441583 | ACOT11,FAM151A | c.1568G>C (p.Gly523Ala) c.*346C>G (n.*346C>G) c.1007G>C (p.Gly336Ala) c.1629+1390C>G (n.1629+1390C>G) n.2209C>G c.1490G>C (p.Gly497Ala) | |
| 1 | g.54609458C>T | CA340441584 | ACOT11,FAM151A | c.1568G>A (p.Gly523Glu) c.*346C>T (n.*346C>T) c.1007G>A (p.Gly336Glu) c.1629+1390C>T (n.1629+1390C>T) n.2209C>T c.1490G>A (p.Gly497Glu) | |
| 1 | g.54609459del | CA2508346425 | ACOT11,FAM151A | c.1568del (p.Gly523GlufsTer3) c.*347del (n.*347del) c.1007del (p.Gly336GlufsTer3) c.1629+1391del (n.1629+1391del) n.2210del c.1490del (p.Gly497GlufsTer3) | |
| 1 | g.54609459C>A | CA340441586 | ACOT11,FAM151A | c.1567G>T (p.Gly523Ter) c.*347C>A (n.*347C>A) c.1006G>T (p.Gly336Ter) c.1629+1391C>A (n.1629+1391C>A) n.2210C>A c.1489G>T (p.Gly497Ter) | |
| 1 | g.54609459C= | CA1167798487 | ACOT11,FAM151A | c.1567G= (p.Gly523=) c.*347C= (n.*347C=) c.1006G= (p.Gly336=) c.1629+1391C= (n.1629+1391C=) n.2210C= c.1489G= (p.Gly497=) | |
| 1 | g.54609459C>G | CA340441587 | ACOT11,FAM151A | c.1567G>C (p.Gly523Arg) c.*347C>G (n.*347C>G) c.1006G>C (p.Gly336Arg) c.1629+1391C>G (n.1629+1391C>G) n.2210C>G c.1489G>C (p.Gly497Arg) | |
| 1 | g.54609459C>T | CA340441585 | ACOT11,FAM151A | c.1567G>A (p.Gly523Arg) c.*347C>T (n.*347C>T) c.1006G>A (p.Gly336Arg) c.1629+1391C>T (n.1629+1391C>T) n.2210C>T c.1489G>A (p.Gly497Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54609460A= | CA1148300853 | ACOT11,FAM151A | c.1566T= (p.Ala522=) c.*348A= (n.*348A=) c.1005T= (p.Ala335=) c.1629+1392A= (n.1629+1392A=) n.2211A= c.1488T= (p.Ala496=) | |
| 1 | g.54609460A>C | CA866880 | ACOT11,FAM151A | c.1566T>G (p.Ala522=) c.*348A>C (n.*348A>C) c.1005T>G (p.Ala335=) c.1629+1392A>C (n.1629+1392A>C) n.2211A>C c.1488T>G (p.Ala496=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609460A>G | CA418177432 | ACOT11,FAM151A | c.1566T>C (p.Ala522=) c.*348A>G (n.*348A>G) c.1005T>C (p.Ala335=) c.1629+1392A>G (n.1629+1392A>G) n.2211A>G c.1488T>C (p.Ala496=) | |
| 1 | g.54609460A>T | CA418177434 | ACOT11,FAM151A | c.1566T>A (p.Ala522=) c.*348A>T (n.*348A>T) c.1005T>A (p.Ala335=) c.1629+1392A>T (n.1629+1392A>T) n.2211A>T c.1488T>A (p.Ala496=) | |
| 1 | g.54609460_54609461del | CA645535780 | ACOT11,FAM151A | c.1565_1566del (p.Ala522GlyfsTer?) c.*348_*349del (n.*348_*349del) c.1004_1005del (p.Ala335GlyfsTer?) c.1629+1392_1629+1393del (n.1629+1392_1629+1393del) n.2211_2212del c.1487_1488del (p.Ala496GlyfsTer?) | COSMIC |
| 1 | g.54609461G>A | CA340441588 | ACOT11,FAM151A | c.1565C>T (p.Ala522Val) c.*349G>A (n.*349G>A) c.1004C>T (p.Ala335Val) c.1629+1393G>A (n.1629+1393G>A) n.2212G>A c.1487C>T (p.Ala496Val) | gnomAD v4 |
| 1 | g.54609461G>C | CA340441589 | ACOT11,FAM151A | c.1565C>G (p.Ala522Gly) c.*349G>C (n.*349G>C) c.1004C>G (p.Ala335Gly) c.1629+1393G>C (n.1629+1393G>C) n.2212G>C c.1487C>G (p.Ala496Gly) | |
| 1 | g.54609461G>T | CA340441590 | ACOT11,FAM151A | c.1565C>A (p.Ala522Asp) c.*349G>T (n.*349G>T) c.1004C>A (p.Ala335Asp) c.1629+1393G>T (n.1629+1393G>T) n.2212G>T c.1487C>A (p.Ala496Asp) | |
| 1 | g.54609462C>A | CA340441593 | ACOT11,FAM151A | c.1564G>T (p.Ala522Ser) c.*350C>A (n.*350C>A) c.1003G>T (p.Ala335Ser) c.1629+1394C>A (n.1629+1394C>A) n.2213C>A c.1486G>T (p.Ala496Ser) | |
| 1 | g.54609462C>G | CA340441592 | ACOT11,FAM151A | c.1564G>C (p.Ala522Pro) c.*350C>G (n.*350C>G) c.1003G>C (p.Ala335Pro) c.1629+1394C>G (n.1629+1394C>G) n.2213C>G c.1486G>C (p.Ala496Pro) | |
| 1 | g.54609462C>T | CA340441591 | ACOT11,FAM151A | c.1564G>A (p.Ala522Thr) c.*350C>T (n.*350C>T) c.1003G>A (p.Ala335Thr) c.1629+1394C>T (n.1629+1394C>T) n.2213C>T c.1486G>A (p.Ala496Thr) | |
| 1 | g.54609463T>A | CA418177436 | ACOT11,FAM151A | c.1563A>T (p.Thr521=) c.*351T>A (n.*351T>A) c.1002A>T (p.Thr334=) c.1629+1395T>A (n.1629+1395T>A) n.2214T>A c.1485A>T (p.Thr495=) | |
| 1 | g.54609463T>C | CA866881 | ACOT11,FAM151A | c.1563A>G (p.Thr521=) c.*351T>C (n.*351T>C) c.1002A>G (p.Thr334=) c.1629+1395T>C (n.1629+1395T>C) n.2214T>C c.1485A>G (p.Thr495=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54609463T>G | CA418177438 | ACOT11,FAM151A | c.1563A>C (p.Thr521=) c.*351T>G (n.*351T>G) c.1002A>C (p.Thr334=) c.1629+1395T>G (n.1629+1395T>G) n.2214T>G c.1485A>C (p.Thr495=) | |
| 1 | g.54609463T= | CA1167798488 | ACOT11,FAM151A | c.1563A= (p.Thr521=) c.*351T= (n.*351T=) c.1002A= (p.Thr334=) c.1629+1395T= (n.1629+1395T=) n.2214T= c.1485A= (p.Thr495=) | |
| 1 | g.54609464G>A | CA22715527 | ACOT11,FAM151A | c.1562C>T (p.Thr521Ile) c.*352G>A (n.*352G>A) c.1001C>T (p.Thr334Ile) c.1629+1396G>A (n.1629+1396G>A) n.2215G>A c.1484C>T (p.Thr495Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54609464G>C | CA340441594 | ACOT11,FAM151A | c.1562C>G (p.Thr521Arg) c.*352G>C (n.*352G>C) c.1001C>G (p.Thr334Arg) c.1629+1396G>C (n.1629+1396G>C) n.2215G>C c.1484C>G (p.Thr495Arg) | |
| 1 | g.54609464G= | CA1167798489 | ACOT11,FAM151A | c.1562C= (p.Thr521=) c.*352G= (n.*352G=) c.1001C= (p.Thr334=) c.1629+1396G= (n.1629+1396G=) n.2215G= c.1484C= (p.Thr495=) | |
| 1 | g.54609464G>T | CA340441595 | ACOT11,FAM151A | c.1562C>A (p.Thr521Lys) c.*352G>T (n.*352G>T) c.1001C>A (p.Thr334Lys) c.1629+1396G>T (n.1629+1396G>T) n.2215G>T c.1484C>A (p.Thr495Lys) | |
| 1 | g.54609465T>A | CA340441596 | ACOT11,FAM151A | c.1561A>T (p.Thr521Ser) c.*353T>A (n.*353T>A) c.1000A>T (p.Thr334Ser) c.1629+1397T>A (n.1629+1397T>A) n.2216T>A c.1483A>T (p.Thr495Ser) | |
| 1 | g.54609465T>C | CA340441597 | ACOT11,FAM151A | c.1561A>G (p.Thr521Ala) c.*353T>C (n.*353T>C) c.1000A>G (p.Thr334Ala) c.1629+1397T>C (n.1629+1397T>C) n.2216T>C c.1483A>G (p.Thr495Ala) | |
| 1 | g.54609465T>G | CA340441598 | ACOT11,FAM151A | c.1561A>C (p.Thr521Pro) c.*353T>G (n.*353T>G) c.1000A>C (p.Thr334Pro) c.1629+1397T>G (n.1629+1397T>G) n.2216T>G c.1483A>C (p.Thr495Pro) | |
| 1 | g.54609466G>A | CA418177440 | ACOT11,FAM151A | c.1560C>T (p.Ser520=) c.*354G>A (n.*354G>A) c.999C>T (p.Ser333=) c.1629+1398G>A (n.1629+1398G>A) n.2217G>A c.1482C>T (p.Ser494=) | |
| 1 | g.54609466G>C | CA340441599 | ACOT11,FAM151A | c.1560C>G (p.Ser520Arg) c.*354G>C (n.*354G>C) c.999C>G (p.Ser333Arg) c.1629+1398G>C (n.1629+1398G>C) n.2217G>C c.1482C>G (p.Ser494Arg) | |
| 1 | g.54609466G>T | CA340441600 | ACOT11,FAM151A | c.1560C>A (p.Ser520Arg) c.*354G>T (n.*354G>T) c.999C>A (p.Ser333Arg) c.1629+1398G>T (n.1629+1398G>T) n.2217G>T c.1482C>A (p.Ser494Arg) | COSMIC |
| 1 | g.54609467C>A | CA340441601 | ACOT11,FAM151A | c.1559G>T (p.Ser520Ile) c.*355C>A (n.*355C>A) c.998G>T (p.Ser333Ile) c.1629+1399C>A (n.1629+1399C>A) n.2218C>A c.1481G>T (p.Ser494Ile) | |
| 1 | g.54609467C>G | CA340441602 | ACOT11,FAM151A | c.1559G>C (p.Ser520Thr) c.*355C>G (n.*355C>G) c.998G>C (p.Ser333Thr) c.1629+1399C>G (n.1629+1399C>G) n.2218C>G c.1481G>C (p.Ser494Thr) | |
| 1 | g.54609467C>T | CA340441603 | ACOT11,FAM151A | c.1559G>A (p.Ser520Asn) c.*355C>T (n.*355C>T) c.998G>A (p.Ser333Asn) c.1629+1399C>T (n.1629+1399C>T) n.2218C>T c.1481G>A (p.Ser494Asn) | gnomAD v4 |
| 1 | g.54609467_54609469delinsCTG | CA1167798490 | ACOT11,FAM151A | c.1557_1559delinsCAG (p.His519=) c.*355_*357delinsCTG (n.*355_*357delinsCTG) c.996_998delinsCAG (p.His332=) c.1629+1399_1629+1401delinsCTG (n.1629+1399_1629+1401delinsCTG) n.2218_2220delinsCTG c.1479_1481delinsCAG (p.His493=) | |
| 1 | g.54609468T>A | CA340441604 | ACOT11,FAM151A | c.1558A>T (p.Ser520Cys) c.*356T>A (n.*356T>A) c.997A>T (p.Ser333Cys) c.1629+1400T>A (n.1629+1400T>A) n.2219T>A c.1480A>T (p.Ser494Cys) | |
| 1 | g.54609468T>C | CA22715532 | ACOT11,FAM151A | c.1558A>G (p.Ser520Gly) c.*356T>C (n.*356T>C) c.997A>G (p.Ser333Gly) c.1629+1400T>C (n.1629+1400T>C) n.2219T>C c.1480A>G (p.Ser494Gly) | dbSNP gnomAD v4 |
| 1 | g.54609468T>G | CA340441605 | ACOT11,FAM151A | c.1558A>C (p.Ser520Arg) c.*356T>G (n.*356T>G) c.997A>C (p.Ser333Arg) c.1629+1400T>G (n.1629+1400T>G) n.2219T>G c.1480A>C (p.Ser494Arg) | dbSNP |
| 1 | g.54609468T= | CA1167798492 | ACOT11,FAM151A | c.1558A= (p.Ser520=) c.*356T= (n.*356T=) c.997A= (p.Ser333=) c.1629+1400T= (n.1629+1400T=) n.2219T= c.1480A= (p.Ser494=) | |
| 1 | g.54609470_54609471del | CA1167798491 | ACOT11,FAM151A | c.1557_1558del (p.His519GlnfsTer?) c.*358_*359del (n.*358_*359del) c.996_997del (p.His332GlnfsTer?) c.1629+1402_1629+1403del (n.1629+1402_1629+1403del) n.2221_2222del c.1479_1480del (p.His493GlnfsTer?) | dbSNP gnomAD v4 |
| 1 | g.54609469G>A | CA418177442 | ACOT11,FAM151A | c.1557C>T (p.His519=) c.*357G>A (n.*357G>A) c.996C>T (p.His332=) c.1629+1401G>A (n.1629+1401G>A) n.2220G>A c.1479C>T (p.His493=) | gnomAD v4 |
| 1 | g.54609469G>C | CA340441607 | ACOT11,FAM151A | c.1557C>G (p.His519Gln) c.*357G>C (n.*357G>C) c.996C>G (p.His332Gln) c.1629+1401G>C (n.1629+1401G>C) n.2220G>C c.1479C>G (p.His493Gln) | gnomAD v4 |
| 1 | g.54609469G>T | CA340441606 | ACOT11,FAM151A | c.1557C>A (p.His519Gln) c.*357G>T (n.*357G>T) c.996C>A (p.His332Gln) c.1629+1401G>T (n.1629+1401G>T) n.2220G>T c.1479C>A (p.His493Gln) | |
| 1 | g.54609470T>A | CA340441608 | ACOT11,FAM151A | c.1556A>T (p.His519Leu) c.*358T>A (n.*358T>A) c.995A>T (p.His332Leu) c.1629+1402T>A (n.1629+1402T>A) n.2221T>A c.1478A>T (p.His493Leu) | gnomAD v4 |
| 1 | g.54609470T>C | CA340441609 | ACOT11,FAM151A | c.1556A>G (p.His519Arg) c.*358T>C (n.*358T>C) c.995A>G (p.His332Arg) c.1629+1402T>C (n.1629+1402T>C) n.2221T>C c.1478A>G (p.His493Arg) | |
| 1 | g.54609470T>G | CA340441610 | ACOT11,FAM151A | c.1556A>C (p.His519Pro) c.*358T>G (n.*358T>G) c.995A>C (p.His332Pro) c.1629+1402T>G (n.1629+1402T>G) n.2221T>G c.1478A>C (p.His493Pro) | |
| 1 | g.54609471G>A | CA340441611 | ACOT11,FAM151A | c.1555C>T (p.His519Tyr) c.*359G>A (n.*359G>A) c.994C>T (p.His332Tyr) c.1629+1403G>A (n.1629+1403G>A) n.2222G>A c.1477C>T (p.His493Tyr) | |
| 1 | g.54609471G>C | CA340441612 | ACOT11,FAM151A | c.1555C>G (p.His519Asp) c.*359G>C (n.*359G>C) c.994C>G (p.His332Asp) c.1629+1403G>C (n.1629+1403G>C) n.2222G>C c.1477C>G (p.His493Asp) | |
| 1 | g.54609471G= | CA1167798493 | ACOT11,FAM151A | c.1555C= (p.His519=) c.*359G= (n.*359G=) c.994C= (p.His332=) c.1629+1403G= (n.1629+1403G=) n.2222G= c.1477C= (p.His493=) | |
| 1 | g.54609471G>T | CA22715533 | ACOT11,FAM151A | c.1555C>A (p.His519Asn) c.*359G>T (n.*359G>T) c.994C>A (p.His332Asn) c.1629+1403G>T (n.1629+1403G>T) n.2222G>T c.1477C>A (p.His493Asn) | dbSNP |
| 1 | g.54609472G>A | CA418177445 | ACOT11,FAM151A | c.1554C>T (p.Gly518=) c.*360G>A (n.*360G>A) c.993C>T (p.Gly331=) c.1629+1404G>A (n.1629+1404G>A) n.2223G>A c.1476C>T (p.Gly492=) | gnomAD v4 |
| 1 | g.54609472G>C | CA418177447 | ACOT11,FAM151A | c.1554C>G (p.Gly518=) c.*360G>C (n.*360G>C) c.993C>G (p.Gly331=) c.1629+1404G>C (n.1629+1404G>C) n.2223G>C c.1476C>G (p.Gly492=) | |
| 1 | g.54609472G>T | CA418177446 | ACOT11,FAM151A | c.1554C>A (p.Gly518=) c.*360G>T (n.*360G>T) c.993C>A (p.Gly331=) c.1629+1404G>T (n.1629+1404G>T) n.2223G>T c.1476C>A (p.Gly492=) | gnomAD v4 |
| 1 | g.54609473C>A | CA340441613 | ACOT11,FAM151A | c.1553G>T (p.Gly518Val) c.*361C>A (n.*361C>A) c.992G>T (p.Gly331Val) c.1629+1405C>A (n.1629+1405C>A) n.2224C>A c.1475G>T (p.Gly492Val) | |
| 1 | g.54609473C>G | CA340441615 | ACOT11,FAM151A | c.1553G>C (p.Gly518Ala) c.*361C>G (n.*361C>G) c.992G>C (p.Gly331Ala) c.1629+1405C>G (n.1629+1405C>G) n.2224C>G c.1475G>C (p.Gly492Ala) | |
| 1 | g.54609473C>T | CA340441614 | ACOT11,FAM151A | c.1553G>A (p.Gly518Asp) c.*361C>T (n.*361C>T) c.992G>A (p.Gly331Asp) c.1629+1405C>T (n.1629+1405C>T) n.2224C>T c.1475G>A (p.Gly492Asp) | |
| 1 | g.54609474C>A | CA340441616 | ACOT11,FAM151A | c.1552G>T (p.Gly518Cys) c.*362C>A (n.*362C>A) c.991G>T (p.Gly331Cys) c.1629+1406C>A (n.1629+1406C>A) n.2225C>A c.1474G>T (p.Gly492Cys) | |
| 1 | g.54609474C>G | CA340441617 | ACOT11,FAM151A | c.1552G>C (p.Gly518Arg) c.*362C>G (n.*362C>G) c.991G>C (p.Gly331Arg) c.1629+1406C>G (n.1629+1406C>G) n.2225C>G c.1474G>C (p.Gly492Arg) | |
| 1 | g.54609474C>T | CA340441618 | ACOT11,FAM151A | c.1552G>A (p.Gly518Ser) c.*362C>T (n.*362C>T) c.991G>A (p.Gly331Ser) c.1629+1406C>T (n.1629+1406C>T) n.2225C>T c.1474G>A (p.Gly492Ser) |