| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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) | |
| 1 | g.54609475C>A | CA418177448 | ACOT11,FAM151A | c.1551G>T (p.Leu517=) c.*363C>A (n.*363C>A) c.990G>T (p.Leu330=) c.1629+1407C>A (n.1629+1407C>A) n.2226C>A c.1473G>T (p.Leu491=) | |
| 1 | g.54609475C>G | CA418177449 | ACOT11,FAM151A | c.1551G>C (p.Leu517=) c.*363C>G (n.*363C>G) c.990G>C (p.Leu330=) c.1629+1407C>G (n.1629+1407C>G) n.2226C>G c.1473G>C (p.Leu491=) | |
| 1 | g.54609475C>T | CA418177451 | ACOT11,FAM151A | c.1551G>A (p.Leu517=) c.*363C>T (n.*363C>T) c.990G>A (p.Leu330=) c.1629+1407C>T (n.1629+1407C>T) n.2226C>T c.1473G>A (p.Leu491=) | |
| 1 | g.54609476A= | CA1167798494 | ACOT11,FAM151A | c.1550T= (p.Leu517=) c.*364A= (n.*364A=) c.989T= (p.Leu330=) c.1629+1408A= (n.1629+1408A=) n.2227A= c.1472T= (p.Leu491=) | |
| 1 | g.54609476A>C | CA340441619 | ACOT11,FAM151A | c.1550T>G (p.Leu517Arg) c.*364A>C (n.*364A>C) c.989T>G (p.Leu330Arg) c.1629+1408A>C (n.1629+1408A>C) n.2227A>C c.1472T>G (p.Leu491Arg) | gnomAD v4 |
| 1 | g.54609476A>G | CA340441620 | ACOT11,FAM151A | c.1550T>C (p.Leu517Pro) c.*364A>G (n.*364A>G) c.989T>C (p.Leu330Pro) c.1629+1408A>G (n.1629+1408A>G) n.2227A>G c.1472T>C (p.Leu491Pro) | dbSNP |
| 1 | g.54609476A>T | CA340441621 | ACOT11,FAM151A | c.1550T>A (p.Leu517Gln) c.*364A>T (n.*364A>T) c.989T>A (p.Leu330Gln) c.1629+1408A>T (n.1629+1408A>T) n.2227A>T c.1472T>A (p.Leu491Gln) | |
| 1 | g.54609476_54609488delinsAGCAGCATGGCCT | CA1167798495 | ACOT11,FAM151A | c.1538_1550delinsAGGCCATGCTGCT (p.Gln513=) c.*364_*376delinsAGCAGCATGGCCT (n.*364_*376delinsAGCAGCATGGCCT) c.977_989delinsAGGCCATGCTGCT (p.Gln326=) c.1629+1408_1629+1420delinsAGCAGCATGGCCT (n.1629+1408_1629+1420delinsAGCAGCATGGCCT) n.2227_2239delinsAGCAGCATGGCCT c.1460_1472delinsAGGCCATGCTGCT (p.Gln487=) | |
| 1 | g.54609477G>A | CA418177453 | ACOT11,FAM151A | c.1549C>T (p.Leu517=) c.*365G>A (n.*365G>A) c.988C>T (p.Leu330=) c.1629+1409G>A (n.1629+1409G>A) n.2228G>A c.1471C>T (p.Leu491=) | |
| 1 | g.54609477G>C | CA340441622 | ACOT11,FAM151A | c.1549C>G (p.Leu517Val) c.*365G>C (n.*365G>C) c.988C>G (p.Leu330Val) c.1629+1409G>C (n.1629+1409G>C) n.2228G>C c.1471C>G (p.Leu491Val) | gnomAD v4 |
| 1 | g.54609477G>T | CA340441623 | ACOT11,FAM151A | c.1549C>A (p.Leu517Met) c.*365G>T (n.*365G>T) c.988C>A (p.Leu330Met) c.1629+1409G>T (n.1629+1409G>T) n.2228G>T c.1471C>A (p.Leu491Met) | |
| 1 | g.54609480_54609491del | CA1167798496 | ACOT11,FAM151A | c.1538_1549del (p.Gln513_Leu516del) c.*368_*379del (n.*368_*379del) c.977_988del (p.Gln326_Leu329del) c.1629+1412_1629+1423del (n.1629+1412_1629+1423del) n.2231_2242del c.1460_1471del (p.Gln487_Leu490del) | dbSNP |
| 1 | g.54609478C>A | CA418177454 | ACOT11,FAM151A | c.1548G>T (p.Leu516=) c.*366C>A (n.*366C>A) c.987G>T (p.Leu329=) c.1629+1410C>A (n.1629+1410C>A) n.2229C>A c.1470G>T (p.Leu490=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54609478C= | CA1167798497 | ACOT11,FAM151A | c.1548G= (p.Leu516=) c.*366C= (n.*366C=) c.987G= (p.Leu329=) c.1629+1410C= (n.1629+1410C=) n.2229C= c.1470G= (p.Leu490=) | |
| 1 | g.54609478C>G | CA418177455 | ACOT11,FAM151A | c.1548G>C (p.Leu516=) c.*366C>G (n.*366C>G) c.987G>C (p.Leu329=) c.1629+1410C>G (n.1629+1410C>G) n.2229C>G c.1470G>C (p.Leu490=) | |
| 1 | g.54609478C>T | CA418177456 | ACOT11,FAM151A | c.1548G>A (p.Leu516=) c.*366C>T (n.*366C>T) c.987G>A (p.Leu329=) c.1629+1410C>T (n.1629+1410C>T) n.2229C>T c.1470G>A (p.Leu490=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54609479A>C | CA340441624 | ACOT11,FAM151A | c.1547T>G (p.Leu516Arg) c.*367A>C (n.*367A>C) c.986T>G (p.Leu329Arg) c.1629+1411A>C (n.1629+1411A>C) n.2230A>C c.1469T>G (p.Leu490Arg) | |
| 1 | g.54609479A>G | CA340441625 | ACOT11,FAM151A | c.1547T>C (p.Leu516Pro) c.*367A>G (n.*367A>G) c.986T>C (p.Leu329Pro) c.1629+1411A>G (n.1629+1411A>G) n.2230A>G c.1469T>C (p.Leu490Pro) | |
| 1 | g.54609479A>T | CA340441626 | ACOT11,FAM151A | c.1547T>A (p.Leu516Gln) c.*367A>T (n.*367A>T) c.986T>A (p.Leu329Gln) c.1629+1411A>T (n.1629+1411A>T) n.2230A>T c.1469T>A (p.Leu490Gln) | |
| 1 | g.54609480G>A | CA866882 | ACOT11,FAM151A | c.1546C>T (p.Leu516=) c.*368G>A (n.*368G>A) c.985C>T (p.Leu329=) c.1629+1412G>A (n.1629+1412G>A) n.2231G>A c.1468C>T (p.Leu490=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54609480G>C | CA340441628 | ACOT11,FAM151A | c.1546C>G (p.Leu516Val) c.*368G>C (n.*368G>C) c.985C>G (p.Leu329Val) c.1629+1412G>C (n.1629+1412G>C) n.2231G>C c.1468C>G (p.Leu490Val) | |
| 1 | g.54609480G= | CA1167798498 | ACOT11,FAM151A | c.1546C= (p.Leu516=) c.*368G= (n.*368G=) c.985C= (p.Leu329=) c.1629+1412G= (n.1629+1412G=) n.2231G= c.1468C= (p.Leu490=) | |
| 1 | g.54609480G>T | CA340441627 | ACOT11,FAM151A | c.1546C>A (p.Leu516Met) c.*368G>T (n.*368G>T) c.985C>A (p.Leu329Met) c.1629+1412G>T (n.1629+1412G>T) n.2231G>T c.1468C>A (p.Leu490Met) | |
| 1 | g.54609481C>A | CA340441629 | ACOT11,FAM151A | c.1545G>T (p.Met515Ile) c.*369C>A (n.*369C>A) c.984G>T (p.Met328Ile) c.1629+1413C>A (n.1629+1413C>A) n.2232C>A c.1467G>T (p.Met489Ile) | |
| 1 | g.54609481C= | CA1167798499 | ACOT11,FAM151A | c.1545G= (p.Met515=) c.*369C= (n.*369C=) c.984G= (p.Met328=) c.1629+1413C= (n.1629+1413C=) n.2232C= c.1467G= (p.Met489=) | |
| 1 | g.54609481C>G | CA340441631 | ACOT11,FAM151A | c.1545G>C (p.Met515Ile) c.*369C>G (n.*369C>G) c.984G>C (p.Met328Ile) c.1629+1413C>G (n.1629+1413C>G) n.2232C>G c.1467G>C (p.Met489Ile) | |
| 1 | g.54609481C>T | CA340441630 | ACOT11,FAM151A | c.1545G>A (p.Met515Ile) c.*369C>T (n.*369C>T) c.984G>A (p.Met328Ile) c.1629+1413C>T (n.1629+1413C>T) n.2232C>T c.1467G>A (p.Met489Ile) | |
| 1 | g.54609482A= | CA1148895566 | ACOT11,FAM151A | c.1544T= (p.Met515=) c.*370A= (n.*370A=) c.983T= (p.Met328=) c.1629+1414A= (n.1629+1414A=) n.2233A= c.1466T= (p.Met489=) | |
| 1 | g.54609482A>C | CA340441632 | ACOT11,FAM151A | c.1544T>G (p.Met515Arg) c.*370A>C (n.*370A>C) c.983T>G (p.Met328Arg) c.1629+1414A>C (n.1629+1414A>C) n.2233A>C c.1466T>G (p.Met489Arg) | |
| 1 | g.54609482A>G | CA340441633 | ACOT11,FAM151A | c.1544T>C (p.Met515Thr) c.*370A>G (n.*370A>G) c.983T>C (p.Met328Thr) c.1629+1414A>G (n.1629+1414A>G) n.2233A>G c.1466T>C (p.Met489Thr) | |
| 1 | g.54609482A>T | CA340441634 | ACOT11,FAM151A | c.1544T>A (p.Met515Lys) c.*370A>T (n.*370A>T) c.983T>A (p.Met328Lys) c.1629+1414A>T (n.1629+1414A>T) n.2233A>T c.1466T>A (p.Met489Lys) | |
| 1 | g.54609482dup | CA22715534 | ACOT11,FAM151A | c.1544dup (p.Met515IlefsTer?) c.*370dup (n.*370dup) c.983dup (p.Met328IlefsTer?) c.1629+1414dup (n.1629+1414dup) n.2233dup c.1466dup (p.Met489IlefsTer?) | dbSNP |
| 1 | g.54609483T>A | CA340441635 | ACOT11,FAM151A | c.1543A>T (p.Met515Leu) c.*371T>A (n.*371T>A) c.982A>T (p.Met328Leu) c.1629+1415T>A (n.1629+1415T>A) n.2234T>A c.1465A>T (p.Met489Leu) | |
| 1 | g.54609483T>C | CA340441636 | ACOT11,FAM151A | c.1543A>G (p.Met515Val) c.*371T>C (n.*371T>C) c.982A>G (p.Met328Val) c.1629+1415T>C (n.1629+1415T>C) n.2234T>C c.1465A>G (p.Met489Val) | dbSNP gnomAD v4 |
| 1 | g.54609483T>G | CA340441637 | ACOT11,FAM151A | c.1543A>C (p.Met515Leu) c.*371T>G (n.*371T>G) c.982A>C (p.Met328Leu) c.1629+1415T>G (n.1629+1415T>G) n.2234T>G c.1465A>C (p.Met489Leu) | |
| 1 | g.54609483T= | CA1167798500 | ACOT11,FAM151A | c.1543A= (p.Met515=) c.*371T= (n.*371T=) c.982A= (p.Met328=) c.1629+1415T= (n.1629+1415T=) n.2234T= c.1465A= (p.Met489=) | |
| 1 | g.54609484G>A | CA418177461 | ACOT11,FAM151A | c.1542C>T (p.Ala514=) c.*372G>A (n.*372G>A) c.981C>T (p.Ala327=) c.1629+1416G>A (n.1629+1416G>A) n.2235G>A c.1464C>T (p.Ala488=) | |
| 1 | g.54609484G>C | CA418177462 | ACOT11,FAM151A | c.1542C>G (p.Ala514=) c.*372G>C (n.*372G>C) c.981C>G (p.Ala327=) c.1629+1416G>C (n.1629+1416G>C) n.2235G>C c.1464C>G (p.Ala488=) | |
| 1 | g.54609484G>T | CA418177463 | ACOT11,FAM151A | c.1542C>A (p.Ala514=) c.*372G>T (n.*372G>T) c.981C>A (p.Ala327=) c.1629+1416G>T (n.1629+1416G>T) n.2235G>T c.1464C>A (p.Ala488=) | |
| 1 | g.54609485G>A | CA866883 | ACOT11,FAM151A | c.1541C>T (p.Ala514Val) c.*373G>A (n.*373G>A) c.980C>T (p.Ala327Val) c.1629+1417G>A (n.1629+1417G>A) n.2236G>A c.1463C>T (p.Ala488Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.54609485G>C | CA340441638 | ACOT11,FAM151A | c.1541C>G (p.Ala514Gly) c.*373G>C (n.*373G>C) c.980C>G (p.Ala327Gly) c.1629+1417G>C (n.1629+1417G>C) n.2236G>C c.1463C>G (p.Ala488Gly) | |
| 1 | g.54609485G= | CA1167798501 | ACOT11,FAM151A | c.1541C= (p.Ala514=) c.*373G= (n.*373G=) c.980C= (p.Ala327=) c.1629+1417G= (n.1629+1417G=) n.2236G= c.1463C= (p.Ala488=) | |
| 1 | g.54609485G>T | CA340441639 | ACOT11,FAM151A | c.1541C>A (p.Ala514Asp) c.*373G>T (n.*373G>T) c.980C>A (p.Ala327Asp) c.1629+1417G>T (n.1629+1417G>T) n.2236G>T c.1463C>A (p.Ala488Asp) | |
| 1 | g.54609486C>A | CA340441642 | ACOT11,FAM151A | c.1540G>T (p.Ala514Ser) c.*374C>A (n.*374C>A) c.979G>T (p.Ala327Ser) c.1629+1418C>A (n.1629+1418C>A) n.2237C>A c.1462G>T (p.Ala488Ser) | |
| 1 | g.54609486C>G | CA340441641 | ACOT11,FAM151A | c.1540G>C (p.Ala514Pro) c.*374C>G (n.*374C>G) c.979G>C (p.Ala327Pro) c.1629+1418C>G (n.1629+1418C>G) n.2237C>G c.1462G>C (p.Ala488Pro) | |
| 1 | g.54609486C>T | CA340441640 | ACOT11,FAM151A | c.1540G>A (p.Ala514Thr) c.*374C>T (n.*374C>T) c.979G>A (p.Ala327Thr) c.1629+1418C>T (n.1629+1418C>T) n.2237C>T c.1462G>A (p.Ala488Thr) | |
| 1 | g.54609487C>A | CA340441643 | ACOT11,FAM151A | c.1539G>T (p.Gln513His) c.*375C>A (n.*375C>A) c.978G>T (p.Gln326His) c.1629+1419C>A (n.1629+1419C>A) n.2238C>A c.1461G>T (p.Gln487His) | |
| 1 | g.54609487C= | CA1167798502 | ACOT11,FAM151A | c.1539G= (p.Gln513=) c.*375C= (n.*375C=) c.978G= (p.Gln326=) c.1629+1419C= (n.1629+1419C=) n.2238C= c.1461G= (p.Gln487=) | |
| 1 | g.54609487C>G | CA340441644 | ACOT11,FAM151A | c.1539G>C (p.Gln513His) c.*375C>G (n.*375C>G) c.978G>C (p.Gln326His) c.1629+1419C>G (n.1629+1419C>G) n.2238C>G c.1461G>C (p.Gln487His) | dbSNP |
| 1 | g.54609487C>T | CA418177467 | ACOT11,FAM151A | c.1539G>A (p.Gln513=) c.*375C>T (n.*375C>T) c.978G>A (p.Gln326=) c.1629+1419C>T (n.1629+1419C>T) n.2238C>T c.1461G>A (p.Gln487=) | |
| 1 | g.54609488T>A | CA340441645 | ACOT11,FAM151A | c.1538A>T (p.Gln513Leu) c.*376T>A (n.*376T>A) c.977A>T (p.Gln326Leu) c.1629+1420T>A (n.1629+1420T>A) n.2239T>A c.1460A>T (p.Gln487Leu) | |
| 1 | g.54609488T>C | CA340441646 | ACOT11,FAM151A | c.1538A>G (p.Gln513Arg) c.*376T>C (n.*376T>C) c.977A>G (p.Gln326Arg) c.1629+1420T>C (n.1629+1420T>C) n.2239T>C c.1460A>G (p.Gln487Arg) | |
| 1 | g.54609488T>G | CA340441647 | ACOT11,FAM151A | c.1538A>C (p.Gln513Pro) c.*376T>G (n.*376T>G) c.977A>C (p.Gln326Pro) c.1629+1420T>G (n.1629+1420T>G) n.2239T>G c.1460A>C (p.Gln487Pro) | |
| 1 | g.54609489G>A | CA340441648 | ACOT11,FAM151A | c.1537C>T (p.Gln513Ter) c.*377G>A (n.*377G>A) c.976C>T (p.Gln326Ter) c.1629+1421G>A (n.1629+1421G>A) n.2240G>A c.1459C>T (p.Gln487Ter) | gnomAD v4 |
| 1 | g.54609489G>C | CA340441649 | ACOT11,FAM151A | c.1537C>G (p.Gln513Glu) c.*377G>C (n.*377G>C) c.976C>G (p.Gln326Glu) c.1629+1421G>C (n.1629+1421G>C) n.2240G>C c.1459C>G (p.Gln487Glu) | |
| 1 | g.54609489G>T | CA340441650 | ACOT11,FAM151A | c.1537C>A (p.Gln513Lys) c.*377G>T (n.*377G>T) c.976C>A (p.Gln326Lys) c.1629+1421G>T (n.1629+1421G>T) n.2240G>T c.1459C>A (p.Gln487Lys) | |
| 1 | g.54609490C>A | CA340441651 | ACOT11,FAM151A | c.1536G>T (p.Met512Ile) c.*378C>A (n.*378C>A) c.975G>T (p.Met325Ile) c.1629+1422C>A (n.1629+1422C>A) n.2241C>A c.1458G>T (p.Met486Ile) | |
| 1 | g.54609490C= | CA1167798503 | ACOT11,FAM151A | c.1536G= (p.Met512=) c.*378C= (n.*378C=) c.975G= (p.Met325=) c.1629+1422C= (n.1629+1422C=) n.2241C= c.1458G= (p.Met486=) | |
| 1 | g.54609490C>G | CA340441652 | ACOT11,FAM151A | c.1536G>C (p.Met512Ile) c.*378C>G (n.*378C>G) c.975G>C (p.Met325Ile) c.1629+1422C>G (n.1629+1422C>G) n.2241C>G c.1458G>C (p.Met486Ile) | |
| 1 | g.54609490C>T | CA340441653 | ACOT11,FAM151A | c.1536G>A (p.Met512Ile) c.*378C>T (n.*378C>T) c.975G>A (p.Met325Ile) c.1629+1422C>T (n.1629+1422C>T) n.2241C>T c.1458G>A (p.Met486Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54609490_54609491insTTT | CA1001886826 | ACOT11,FAM151A | c.1535_1536insAAA (p.Met512delinsIleLys) c.*378_*379insTTT (n.*378_*379insTTT) c.974_975insAAA (p.Met325delinsIleLys) c.1629+1422_1629+1423insTTT (n.1629+1422_1629+1423insTTT) n.2241_2242insTTT c.1457_1458insAAA (p.Met486delinsIleLys) | gnomAD v3 gnomAD v4 |
| 1 | g.54609491A= | CA1167798504 | ACOT11,FAM151A | c.1535T= (p.Met512=) c.*379A= (n.*379A=) c.974T= (p.Met325=) c.1629+1423A= (n.1629+1423A=) n.2242A= c.1457T= (p.Met486=) | |
| 1 | g.54609491A>C | CA340441656 | ACOT11,FAM151A | c.1535T>G (p.Met512Arg) c.*379A>C (n.*379A>C) c.974T>G (p.Met325Arg) c.1629+1423A>C (n.1629+1423A>C) n.2242A>C c.1457T>G (p.Met486Arg) | gnomAD v4 |
| 1 | g.54609491A>G | CA866884 | ACOT11,FAM151A | c.1535T>C (p.Met512Thr) c.*379A>G (n.*379A>G) c.974T>C (p.Met325Thr) c.1629+1423A>G (n.1629+1423A>G) n.2242A>G c.1457T>C (p.Met486Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54609491A>T | CA340441654 | ACOT11,FAM151A | c.1535T>A (p.Met512Lys) c.*379A>T (n.*379A>T) c.974T>A (p.Met325Lys) c.1629+1423A>T (n.1629+1423A>T) n.2242A>T c.1457T>A (p.Met486Lys) | |
| 1 | g.54609492T>A | CA340441658 | ACOT11,FAM151A | c.1534A>T (p.Met512Leu) c.*380T>A (n.*380T>A) c.973A>T (p.Met325Leu) c.1629+1424T>A (n.1629+1424T>A) n.2243T>A c.1456A>T (p.Met486Leu) | |
| 1 | g.54609492T>C | CA340441659 | ACOT11,FAM151A | c.1534A>G (p.Met512Val) c.*380T>C (n.*380T>C) c.973A>G (p.Met325Val) c.1629+1424T>C (n.1629+1424T>C) n.2243T>C c.1456A>G (p.Met486Val) | |
| 1 | g.54609492T>G | CA340441660 | ACOT11,FAM151A | c.1534A>C (p.Met512Leu) c.*380T>G (n.*380T>G) c.973A>C (p.Met325Leu) c.1629+1424T>G (n.1629+1424T>G) n.2243T>G c.1456A>C (p.Met486Leu) | |
| 1 | g.54609492T= | CA1167798505 | ACOT11,FAM151A | c.1534A= (p.Met512=) c.*380T= (n.*380T=) c.973A= (p.Met325=) c.1629+1424T= (n.1629+1424T=) n.2243T= c.1456A= (p.Met486=) | |
| 1 | g.54609492_54609493insAAATGTGCCTGGTGCATGAGAAACTCTTGTTTCAGCTCTTGGCCTTTA | CA1001886839 | ACOT11,FAM151A | c.1533_1534insTAAAGGCCAAGAGCTGAAACAAGAGTTTCTCATGCACCAGGCACATTT c.*380_*381insAAATGTGCCTGGTGCATGAGAAACTCTTGTTTCAGCTCTTGGCCTTTA (n.*380_*381insAAATGTGCCTGGTGCATGAGAAACTCTTGTTTCAGCTCTTGGCCTTTA) c.972_973insTAAAGGCCAAGAGCTGAAACAAGAGTTTCTCATGCACCAGGCACATTT c.1629+1424_1629+1425insAAATGTGCCTGGTGCATGAGAAACTCTTGTTTCAGCTCTTGGCCTTTA (n.1629+1424_1629+1425insAAATGTGCCTGGTGCATGAGAAACTCTTGTTTCAGCTCTTGGCCTTTA) n.2243_2244insAAATGTGCCTGGTGCATGAGAAACTCTTGTTTCAGCTCTTGGCCTTTA c.1455_1456insTAAAGGCCAAGAGCTGAAACAAGAGTTTCTCATGCACCAGGCACATTT | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54609493C>A | CA340441661 | ACOT11,FAM151A | c.1533G>T (p.Gln511His) c.*381C>A (n.*381C>A) c.972G>T (p.Gln324His) c.1629+1425C>A (n.1629+1425C>A) n.2244C>A c.1455G>T (p.Gln485His) | COSMIC |
| 1 | g.54609493C>G | CA340441663 | ACOT11,FAM151A | c.1533G>C (p.Gln511His) c.*381C>G (n.*381C>G) c.972G>C (p.Gln324His) c.1629+1425C>G (n.1629+1425C>G) n.2244C>G c.1455G>C (p.Gln485His) | |
| 1 | g.54609493C>T | CA418177471 | ACOT11,FAM151A | c.1533G>A (p.Gln511=) c.*381C>T (n.*381C>T) c.972G>A (p.Gln324=) c.1629+1425C>T (n.1629+1425C>T) n.2244C>T c.1455G>A (p.Gln485=) | |
| 1 | g.54609494T>A | CA340441665 | ACOT11,FAM151A | c.1532A>T (p.Gln511Leu) c.*382T>A (n.*382T>A) c.971A>T (p.Gln324Leu) c.1629+1426T>A (n.1629+1426T>A) n.2245T>A c.1454A>T (p.Gln485Leu) | |
| 1 | g.54609494T>C | CA340441667 | ACOT11,FAM151A | c.1532A>G (p.Gln511Arg) c.*382T>C (n.*382T>C) c.971A>G (p.Gln324Arg) c.1629+1426T>C (n.1629+1426T>C) n.2245T>C c.1454A>G (p.Gln485Arg) | |
| 1 | g.54609494T>G | CA340441668 | ACOT11,FAM151A | c.1532A>C (p.Gln511Pro) c.*382T>G (n.*382T>G) c.971A>C (p.Gln324Pro) c.1629+1426T>G (n.1629+1426T>G) n.2245T>G c.1454A>C (p.Gln485Pro) | |
| 1 | g.54609495G>A | CA340441669 | ACOT11,FAM151A | c.1531C>T (p.Gln511Ter) c.*383G>A (n.*383G>A) c.970C>T (p.Gln324Ter) c.1629+1427G>A (n.1629+1427G>A) n.2246G>A c.1453C>T (p.Gln485Ter) | |
| 1 | g.54609495G>C | CA340441671 | ACOT11,FAM151A | c.1531C>G (p.Gln511Glu) c.*383G>C (n.*383G>C) c.970C>G (p.Gln324Glu) c.1629+1427G>C (n.1629+1427G>C) n.2246G>C c.1453C>G (p.Gln485Glu) | |
| 1 | g.54609495G>T | CA340441673 | ACOT11,FAM151A | c.1531C>A (p.Gln511Lys) c.*383G>T (n.*383G>T) c.970C>A (p.Gln324Lys) c.1629+1427G>T (n.1629+1427G>T) n.2246G>T c.1453C>A (p.Gln485Lys) | |
| 1 | g.54609496G>A | CA418177475 | ACOT11,FAM151A | c.1530C>T (p.Phe510=) c.*384G>A (n.*384G>A) c.969C>T (p.Phe323=) c.1629+1428G>A (n.1629+1428G>A) n.2247G>A c.1452C>T (p.Phe484=) | |
| 1 | g.54609496G>C | CA340441674 | ACOT11,FAM151A | c.1530C>G (p.Phe510Leu) c.*384G>C (n.*384G>C) c.969C>G (p.Phe323Leu) c.1629+1428G>C (n.1629+1428G>C) n.2247G>C c.1452C>G (p.Phe484Leu) | |
| 1 | g.54609496G>T | CA340441676 | ACOT11,FAM151A | c.1530C>A (p.Phe510Leu) c.*384G>T (n.*384G>T) c.969C>A (p.Phe323Leu) c.1629+1428G>T (n.1629+1428G>T) n.2247G>T c.1452C>A (p.Phe484Leu) | COSMIC |
| 1 | g.54609497A>C | CA340441681 | ACOT11,FAM151A | c.1529T>G (p.Phe510Cys) c.*385A>C (n.*385A>C) c.968T>G (p.Phe323Cys) c.1629+1429A>C (n.1629+1429A>C) n.2248A>C c.1451T>G (p.Phe484Cys) | |
| 1 | g.54609497A>G | CA340441679 | ACOT11,FAM151A | c.1529T>C (p.Phe510Ser) c.*385A>G (n.*385A>G) c.968T>C (p.Phe323Ser) c.1629+1429A>G (n.1629+1429A>G) n.2248A>G c.1451T>C (p.Phe484Ser) | |
| 1 | g.54609497A>T | CA340441678 | ACOT11,FAM151A | c.1529T>A (p.Phe510Tyr) c.*385A>T (n.*385A>T) c.968T>A (p.Phe323Tyr) c.1629+1429A>T (n.1629+1429A>T) n.2248A>T c.1451T>A (p.Phe484Tyr) | |
| 1 | g.54609498A>C | CA340441683 | ACOT11,FAM151A | c.1528T>G (p.Phe510Val) c.*386A>C (n.*386A>C) c.967T>G (p.Phe323Val) c.1629+1430A>C (n.1629+1430A>C) n.2249A>C c.1450T>G (p.Phe484Val) | |
| 1 | g.54609498A>G | CA340441684 | ACOT11,FAM151A | c.1528T>C (p.Phe510Leu) c.*386A>G (n.*386A>G) c.967T>C (p.Phe323Leu) c.1629+1430A>G (n.1629+1430A>G) n.2249A>G c.1450T>C (p.Phe484Leu) | |
| 1 | g.54609498A>T | CA340441685 | ACOT11,FAM151A | c.1528T>A (p.Phe510Ile) c.*386A>T (n.*386A>T) c.967T>A (p.Phe323Ile) c.1629+1430A>T (n.1629+1430A>T) n.2249A>T c.1450T>A (p.Phe484Ile) | |
| 1 | g.54609499G>A | CA418177479 | ACOT11,FAM151A | c.1527C>T (p.Ser509=) c.*387G>A (n.*387G>A) c.966C>T (p.Ser322=) c.1629+1431G>A (n.1629+1431G>A) n.2250G>A c.1449C>T (p.Ser483=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609499G>C | CA418177480 | ACOT11,FAM151A | c.1527C>G (p.Ser509=) c.*387G>C (n.*387G>C) c.966C>G (p.Ser322=) c.1629+1431G>C (n.1629+1431G>C) n.2250G>C c.1449C>G (p.Ser483=) | |
| 1 | g.54609499G= | CA1167798506 | ACOT11,FAM151A | c.1527C= (p.Ser509=) c.*387G= (n.*387G=) c.966C= (p.Ser322=) c.1629+1431G= (n.1629+1431G=) n.2250G= c.1449C= (p.Ser483=) | |
| 1 | g.54609499G>T | CA418177481 | ACOT11,FAM151A | c.1527C>A (p.Ser509=) c.*387G>T (n.*387G>T) c.966C>A (p.Ser322=) c.1629+1431G>T (n.1629+1431G>T) n.2250G>T c.1449C>A (p.Ser483=) | |
| 1 | g.54609500G>A | CA340441687 | ACOT11,FAM151A | c.1526C>T (p.Ser509Phe) c.*388G>A (n.*388G>A) c.965C>T (p.Ser322Phe) c.1629+1432G>A (n.1629+1432G>A) n.2251G>A c.1448C>T (p.Ser483Phe) | |
| 1 | g.54609500G>C | CA340441689 | ACOT11,FAM151A | c.1526C>G (p.Ser509Cys) c.*388G>C (n.*388G>C) c.965C>G (p.Ser322Cys) c.1629+1432G>C (n.1629+1432G>C) n.2251G>C c.1448C>G (p.Ser483Cys) | |
| 1 | g.54609500G>T | CA340441691 | ACOT11,FAM151A | c.1526C>A (p.Ser509Tyr) c.*388G>T (n.*388G>T) c.965C>A (p.Ser322Tyr) c.1629+1432G>T (n.1629+1432G>T) n.2251G>T c.1448C>A (p.Ser483Tyr) | |
| 1 | g.54609501A>C | CA340441692 | ACOT11,FAM151A | c.1525T>G (p.Ser509Ala) c.*389A>C (n.*389A>C) c.964T>G (p.Ser322Ala) c.1629+1433A>C (n.1629+1433A>C) n.2252A>C c.1447T>G (p.Ser483Ala) | |
| 1 | g.54609501A>G | CA340441698 | ACOT11,FAM151A | c.1525T>C (p.Ser509Pro) c.*389A>G (n.*389A>G) c.964T>C (p.Ser322Pro) c.1629+1433A>G (n.1629+1433A>G) n.2252A>G c.1447T>C (p.Ser483Pro) | |
| 1 | g.54609501A>T | CA340441700 | ACOT11,FAM151A | c.1525T>A (p.Ser509Thr) c.*389A>T (n.*389A>T) c.964T>A (p.Ser322Thr) c.1629+1433A>T (n.1629+1433A>T) n.2252A>T c.1447T>A (p.Ser483Thr) | |
| 1 | g.54609502C>A | CA418177488 | ACOT11,FAM151A | c.1524G>T (p.Val508=) c.*390C>A (n.*390C>A) c.963G>T (p.Val321=) c.1629+1434C>A (n.1629+1434C>A) n.2253C>A c.1446G>T (p.Val482=) | |
| 1 | g.54609502C>G | CA418177486 | ACOT11,FAM151A | c.1524G>C (p.Val508=) c.*390C>G (n.*390C>G) c.963G>C (p.Val321=) c.1629+1434C>G (n.1629+1434C>G) n.2253C>G c.1446G>C (p.Val482=) | |
| 1 | g.54609502C>T | CA418177485 | ACOT11,FAM151A | c.1524G>A (p.Val508=) c.*390C>T (n.*390C>T) c.963G>A (p.Val321=) c.1629+1434C>T (n.1629+1434C>T) n.2253C>T c.1446G>A (p.Val482=) | |
| 1 | g.54609503A>C | CA340441701 | ACOT11,FAM151A | c.1523T>G (p.Val508Gly) c.*391A>C (n.*391A>C) c.962T>G (p.Val321Gly) c.1629+1435A>C (n.1629+1435A>C) n.2254A>C c.1445T>G (p.Val482Gly) | |
| 1 | g.54609503A>G | CA340441703 | ACOT11,FAM151A | c.1523T>C (p.Val508Ala) c.*391A>G (n.*391A>G) c.962T>C (p.Val321Ala) c.1629+1435A>G (n.1629+1435A>G) n.2254A>G c.1445T>C (p.Val482Ala) | gnomAD v4 |
| 1 | g.54609503A>T | CA340441704 | ACOT11,FAM151A | c.1523T>A (p.Val508Glu) c.*391A>T (n.*391A>T) c.962T>A (p.Val321Glu) c.1629+1435A>T (n.1629+1435A>T) n.2254A>T c.1445T>A (p.Val482Glu) | |
| 1 | g.54609504C>A | CA340441709 | ACOT11,FAM151A | c.1522G>T (p.Val508Leu) c.*392C>A (n.*392C>A) c.961G>T (p.Val321Leu) c.1629+1436C>A (n.1629+1436C>A) n.2255C>A c.1444G>T (p.Val482Leu) | |
| 1 | g.54609504C= | CA1144138657 | ACOT11,FAM151A | c.1522G= (p.Val508=) c.*392C= (n.*392C=) c.961G= (p.Val321=) c.1629+1436C= (n.1629+1436C=) n.2255C= c.1444G= (p.Val482=) | |
| 1 | g.54609504C>G | CA340441707 | ACOT11,FAM151A | c.1522G>C (p.Val508Leu) c.*392C>G (n.*392C>G) c.961G>C (p.Val321Leu) c.1629+1436C>G (n.1629+1436C>G) n.2255C>G c.1444G>C (p.Val482Leu) | |
| 1 | g.54609504C>T | CA866885 | ACOT11,FAM151A | c.1522G>A (p.Val508Met) c.*392C>T (n.*392C>T) c.961G>A (p.Val321Met) c.1629+1436C>T (n.1629+1436C>T) n.2255C>T c.1444G>A (p.Val482Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609505A>C | CA418177490 | ACOT11,FAM151A | c.1521T>G (p.Pro507=) c.*393A>C (n.*393A>C) c.960T>G (p.Pro320=) c.1629+1437A>C (n.1629+1437A>C) n.2256A>C c.1443T>G (p.Pro481=) | |
| 1 | g.54609505A>G | CA418177491 | ACOT11,FAM151A | c.1521T>C (p.Pro507=) c.*393A>G (n.*393A>G) c.960T>C (p.Pro320=) c.1629+1437A>G (n.1629+1437A>G) n.2256A>G c.1443T>C (p.Pro481=) | |
| 1 | g.54609505A>T | CA418177492 | ACOT11,FAM151A | c.1521T>A (p.Pro507=) c.*393A>T (n.*393A>T) c.960T>A (p.Pro320=) c.1629+1437A>T (n.1629+1437A>T) n.2256A>T c.1443T>A (p.Pro481=) | |
| 1 | g.54609506G>A | CA340441711 | ACOT11,FAM151A | c.1520C>T (p.Pro507Leu) c.*394G>A (n.*394G>A) c.959C>T (p.Pro320Leu) c.1629+1438G>A (n.1629+1438G>A) n.2257G>A c.1442C>T (p.Pro481Leu) | dbSNP gnomAD v4 |
| 1 | g.54609506G>C | CA340441713 | ACOT11,FAM151A | c.1520C>G (p.Pro507Arg) c.*394G>C (n.*394G>C) c.959C>G (p.Pro320Arg) c.1629+1438G>C (n.1629+1438G>C) n.2257G>C c.1442C>G (p.Pro481Arg) | |
| 1 | g.54609506G= | CA1167798507 | ACOT11,FAM151A | c.1520C= (p.Pro507=) c.*394G= (n.*394G=) c.959C= (p.Pro320=) c.1629+1438G= (n.1629+1438G=) n.2257G= c.1442C= (p.Pro481=) | |
| 1 | g.54609506G>T | CA340441712 | ACOT11,FAM151A | c.1520C>A (p.Pro507His) c.*394G>T (n.*394G>T) c.959C>A (p.Pro320His) c.1629+1438G>T (n.1629+1438G>T) n.2257G>T c.1442C>A (p.Pro481His) | |
| 1 | g.54609507G>A | CA866886 | ACOT11,FAM151A | c.1519C>T (p.Pro507Ser) c.*395G>A (n.*395G>A) c.958C>T (p.Pro320Ser) c.1629+1439G>A (n.1629+1439G>A) n.2258G>A c.1441C>T (p.Pro481Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54609507G>C | CA340441718 | ACOT11,FAM151A | c.1519C>G (p.Pro507Ala) c.*395G>C (n.*395G>C) c.958C>G (p.Pro320Ala) c.1629+1439G>C (n.1629+1439G>C) n.2258G>C c.1441C>G (p.Pro481Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54609507G= | CA1167798508 | ACOT11,FAM151A | c.1519C= (p.Pro507=) c.*395G= (n.*395G=) c.958C= (p.Pro320=) c.1629+1439G= (n.1629+1439G=) n.2258G= c.1441C= (p.Pro481=) | |
| 1 | g.54609507G>T | CA340441716 | ACOT11,FAM151A | c.1519C>A (p.Pro507Thr) c.*395G>T (n.*395G>T) c.958C>A (p.Pro320Thr) c.1629+1439G>T (n.1629+1439G>T) n.2258G>T c.1441C>A (p.Pro481Thr) | |
| 1 | g.54609508T>A | CA340441719 | ACOT11,FAM151A | c.1518A>T (p.Gln506His) c.*396T>A (n.*396T>A) c.957A>T (p.Gln319His) c.1629+1440T>A (n.1629+1440T>A) n.2259T>A c.1440A>T (p.Gln480His) | |
| 1 | g.54609508T>C | CA866887 | ACOT11,FAM151A | c.1518A>G (p.Gln506=) c.*396T>C (n.*396T>C) c.957A>G (p.Gln319=) c.1629+1440T>C (n.1629+1440T>C) n.2259T>C c.1440A>G (p.Gln480=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609508T>G | CA340441720 | ACOT11,FAM151A | c.1518A>C (p.Gln506His) c.*396T>G (n.*396T>G) c.957A>C (p.Gln319His) c.1629+1440T>G (n.1629+1440T>G) n.2259T>G c.1440A>C (p.Gln480His) | |
| 1 | g.54609508T= | CA1167798509 | ACOT11,FAM151A | c.1518A= (p.Gln506=) c.*396T= (n.*396T=) c.957A= (p.Gln319=) c.1629+1440T= (n.1629+1440T=) n.2259T= c.1440A= (p.Gln480=) | |
| 1 | g.54609509T>A | CA340441721 | ACOT11,FAM151A | c.1517A>T (p.Gln506Leu) c.*397T>A (n.*397T>A) c.956A>T (p.Gln319Leu) c.1629+1441T>A (n.1629+1441T>A) n.2260T>A c.1439A>T (p.Gln480Leu) | |
| 1 | g.54609509T>C | CA340441722 | ACOT11,FAM151A | c.1517A>G (p.Gln506Arg) c.*397T>C (n.*397T>C) c.956A>G (p.Gln319Arg) c.1629+1441T>C (n.1629+1441T>C) n.2260T>C c.1439A>G (p.Gln480Arg) | |
| 1 | g.54609509T>G | CA340441723 | ACOT11,FAM151A | c.1517A>C (p.Gln506Pro) c.*397T>G (n.*397T>G) c.956A>C (p.Gln319Pro) c.1629+1441T>G (n.1629+1441T>G) n.2260T>G c.1439A>C (p.Gln480Pro) | |
| 1 | g.54609510G>A | CA340441726 | ACOT11,FAM151A | c.1516C>T (p.Gln506Ter) c.*398G>A (n.*398G>A) c.955C>T (p.Gln319Ter) c.1629+1442G>A (n.1629+1442G>A) n.2261G>A c.1438C>T (p.Gln480Ter) | |
| 1 | g.54609510G>C | CA340441727 | ACOT11,FAM151A | c.1516C>G (p.Gln506Glu) c.*398G>C (n.*398G>C) c.955C>G (p.Gln319Glu) c.1629+1442G>C (n.1629+1442G>C) n.2261G>C c.1438C>G (p.Gln480Glu) | |
| 1 | g.54609510G>T | CA340441728 | ACOT11,FAM151A | c.1516C>A (p.Gln506Lys) c.*398G>T (n.*398G>T) c.955C>A (p.Gln319Lys) c.1629+1442G>T (n.1629+1442G>T) n.2261G>T c.1438C>A (p.Gln480Lys) | |
| 1 | g.54609511C>A | CA340441729 | ACOT11,FAM151A | c.1515G>T (p.Trp505Cys) c.*399C>A (n.*399C>A) c.954G>T (p.Trp318Cys) c.1629+1443C>A (n.1629+1443C>A) n.2262C>A c.1437G>T (p.Trp479Cys) | |
| 1 | g.54609511C= | CA1167798510 | ACOT11,FAM151A | c.1515G= (p.Trp505=) c.*399C= (n.*399C=) c.954G= (p.Trp318=) c.1629+1443C= (n.1629+1443C=) n.2262C= c.1437G= (p.Trp479=) | |
| 1 | g.54609511C>G | CA340441731 | ACOT11,FAM151A | c.1515G>C (p.Trp505Cys) c.*399C>G (n.*399C>G) c.954G>C (p.Trp318Cys) c.1629+1443C>G (n.1629+1443C>G) n.2262C>G c.1437G>C (p.Trp479Cys) | |
| 1 | g.54609511C>T | CA340441733 | ACOT11,FAM151A | c.1515G>A (p.Trp505Ter) c.*399C>T (n.*399C>T) c.954G>A (p.Trp318Ter) c.1629+1443C>T (n.1629+1443C>T) n.2262C>T c.1437G>A (p.Trp479Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.54609512C>A | CA340441737 | ACOT11,FAM151A | c.1514G>T (p.Trp505Leu) c.*400C>A (n.*400C>A) c.953G>T (p.Trp318Leu) c.1629+1444C>A (n.1629+1444C>A) n.2263C>A c.1436G>T (p.Trp479Leu) | |
| 1 | g.54609512C= | CA1167798511 | ACOT11,FAM151A | c.1514G= (p.Trp505=) c.*400C= (n.*400C=) c.953G= (p.Trp318=) c.1629+1444C= (n.1629+1444C=) n.2263C= c.1436G= (p.Trp479=) | |
| 1 | g.54609512C>G | CA340441735 | ACOT11,FAM151A | c.1514G>C (p.Trp505Ser) c.*400C>G (n.*400C>G) c.953G>C (p.Trp318Ser) c.1629+1444C>G (n.1629+1444C>G) n.2263C>G c.1436G>C (p.Trp479Ser) | |
| 1 | g.54609512C>T | CA340441736 | ACOT11,FAM151A | c.1514G>A (p.Trp505Ter) c.*400C>T (n.*400C>T) c.953G>A (p.Trp318Ter) c.1629+1444C>T (n.1629+1444C>T) n.2263C>T c.1436G>A (p.Trp479Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54609513A>C | CA340441739 | ACOT11,FAM151A | c.1513T>G (p.Trp505Gly) c.*401A>C (n.*401A>C) c.952T>G (p.Trp318Gly) c.1629+1445A>C (n.1629+1445A>C) n.2264A>C c.1435T>G (p.Trp479Gly) | |
| 1 | g.54609513A>G | CA340441740 | ACOT11,FAM151A | c.1513T>C (p.Trp505Arg) c.*401A>G (n.*401A>G) c.952T>C (p.Trp318Arg) c.1629+1445A>G (n.1629+1445A>G) n.2264A>G c.1435T>C (p.Trp479Arg) | |
| 1 | g.54609513A>T | CA340441742 | ACOT11,FAM151A | c.1513T>A (p.Trp505Arg) c.*401A>T (n.*401A>T) c.952T>A (p.Trp318Arg) c.1629+1445A>T (n.1629+1445A>T) n.2264A>T c.1435T>A (p.Trp479Arg) | |
| 1 | g.54609514G>A | CA22715550 | ACOT11,FAM151A | c.1512C>T (p.Leu504=) c.*402G>A (n.*402G>A) c.951C>T (p.Leu317=) c.1629+1446G>A (n.1629+1446G>A) n.2265G>A c.1434C>T (p.Leu478=) | dbSNP |
| 1 | g.54609514G>C | CA418177499 | ACOT11,FAM151A | c.1512C>G (p.Leu504=) c.*402G>C (n.*402G>C) c.951C>G (p.Leu317=) c.1629+1446G>C (n.1629+1446G>C) n.2265G>C c.1434C>G (p.Leu478=) | |
| 1 | g.54609514G= | CA1140017874 | ACOT11,FAM151A | c.1512C= (p.Leu504=) c.*402G= (n.*402G=) c.951C= (p.Leu317=) c.1629+1446G= (n.1629+1446G=) n.2265G= c.1434C= (p.Leu478=) | |
| 1 | g.54609514G>T | CA418177500 | ACOT11,FAM151A | c.1512C>A (p.Leu504=) c.*402G>T (n.*402G>T) c.951C>A (p.Leu317=) c.1629+1446G>T (n.1629+1446G>T) n.2265G>T c.1434C>A (p.Leu478=) | |
| 1 | g.54609515A= | CA1167798512 | ACOT11,FAM151A | c.1511T= (p.Leu504=) c.*403A= (n.*403A=) c.950T= (p.Leu317=) c.1629+1447A= (n.1629+1447A=) n.2266A= c.1433T= (p.Leu478=) | |
| 1 | g.54609515A>C | CA340441743 | ACOT11,FAM151A | c.1511T>G (p.Leu504Arg) c.*403A>C (n.*403A>C) c.950T>G (p.Leu317Arg) c.1629+1447A>C (n.1629+1447A>C) n.2266A>C c.1433T>G (p.Leu478Arg) | dbSNP |
| 1 | g.54609515A>G | CA866888 | ACOT11,FAM151A | c.1511T>C (p.Leu504Pro) c.*403A>G (n.*403A>G) c.950T>C (p.Leu317Pro) c.1629+1447A>G (n.1629+1447A>G) n.2266A>G c.1433T>C (p.Leu478Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54609515A>T | CA340441745 | ACOT11,FAM151A | c.1511T>A (p.Leu504His) c.*403A>T (n.*403A>T) c.950T>A (p.Leu317His) c.1629+1447A>T (n.1629+1447A>T) n.2266A>T c.1433T>A (p.Leu478His) | |
| 1 | g.54609516G>A | CA340441746 | ACOT11,FAM151A | c.1510C>T (p.Leu504Phe) c.*404G>A (n.*404G>A) c.949C>T (p.Leu317Phe) c.1629+1448G>A (n.1629+1448G>A) n.2267G>A c.1432C>T (p.Leu478Phe) | |
| 1 | g.54609516G>C | CA340441748 | ACOT11,FAM151A | c.1510C>G (p.Leu504Val) c.*404G>C (n.*404G>C) c.949C>G (p.Leu317Val) c.1629+1448G>C (n.1629+1448G>C) n.2267G>C c.1432C>G (p.Leu478Val) | |
| 1 | g.54609516G>T | CA340441750 | ACOT11,FAM151A | c.1510C>A (p.Leu504Ile) c.*404G>T (n.*404G>T) c.949C>A (p.Leu317Ile) c.1629+1448G>T (n.1629+1448G>T) n.2267G>T c.1432C>A (p.Leu478Ile) | |
| 1 | g.54609517C>A | CA418177504 | ACOT11,FAM151A | c.1509G>T (p.Gly503=) c.*405C>A (n.*405C>A) c.948G>T (p.Gly316=) c.1629+1449C>A (n.1629+1449C>A) n.2268C>A c.1431G>T (p.Gly477=) | |
| 1 | g.54609517C>G | CA418177505 | ACOT11,FAM151A | c.1509G>C (p.Gly503=) c.*405C>G (n.*405C>G) c.948G>C (p.Gly316=) c.1629+1449C>G (n.1629+1449C>G) n.2268C>G c.1431G>C (p.Gly477=) | gnomAD v4 |
| 1 | g.54609517C>T | CA418177506 | ACOT11,FAM151A | c.1509G>A (p.Gly503=) c.*405C>T (n.*405C>T) c.948G>A (p.Gly316=) c.1629+1449C>T (n.1629+1449C>T) n.2268C>T c.1431G>A (p.Gly477=) | |
| 1 | g.54609518C>A | CA340441755 | ACOT11,FAM151A | c.1508G>T (p.Gly503Val) c.*406C>A (n.*406C>A) c.947G>T (p.Gly316Val) c.1629+1450C>A (n.1629+1450C>A) n.2269C>A c.1430G>T (p.Gly477Val) | |
| 1 | g.54609518C= | CA1167798513 | ACOT11,FAM151A | c.1508G= (p.Gly503=) c.*406C= (n.*406C=) c.947G= (p.Gly316=) c.1629+1450C= (n.1629+1450C=) n.2269C= c.1430G= (p.Gly477=) | |
| 1 | g.54609518C>G | CA340441754 | ACOT11,FAM151A | c.1508G>C (p.Gly503Ala) c.*406C>G (n.*406C>G) c.947G>C (p.Gly316Ala) c.1629+1450C>G (n.1629+1450C>G) n.2269C>G c.1430G>C (p.Gly477Ala) | |
| 1 | g.54609518C>T | CA340441752 | ACOT11,FAM151A | c.1508G>A (p.Gly503Glu) c.*406C>T (n.*406C>T) c.947G>A (p.Gly316Glu) c.1629+1450C>T (n.1629+1450C>T) n.2269C>T c.1430G>A (p.Gly477Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.54609519C>A | CA340441756 | ACOT11,FAM151A | c.1507G>T (p.Gly503Trp) c.*407C>A (n.*407C>A) c.946G>T (p.Gly316Trp) c.1629+1451C>A (n.1629+1451C>A) n.2270C>A c.1429G>T (p.Gly477Trp) | |
| 1 | g.54609519C= | CA1167798514 | ACOT11,FAM151A | c.1507G= (p.Gly503=) c.*407C= (n.*407C=) c.946G= (p.Gly316=) c.1629+1451C= (n.1629+1451C=) n.2270C= c.1429G= (p.Gly477=) | |
| 1 | g.54609519C>G | CA866889 | ACOT11,FAM151A | c.1507G>C (p.Gly503Arg) c.*407C>G (n.*407C>G) c.946G>C (p.Gly316Arg) c.1629+1451C>G (n.1629+1451C>G) n.2270C>G c.1429G>C (p.Gly477Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.54609519C>T | CA340441757 | ACOT11,FAM151A | c.1507G>A (p.Gly503Arg) c.*407C>T (n.*407C>T) c.946G>A (p.Gly316Arg) c.1629+1451C>T (n.1629+1451C>T) n.2270C>T c.1429G>A (p.Gly477Arg) | gnomAD v4 |