Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56983392C>A | CA396008319 | CETP | c.1388C>A (p.Pro463His) n.1786C>A c.1208C>A (p.Pro403His) c.1193C>A (p.Pro398His) | |
16 | g.56983392C>G | CA396008320 | CETP | c.1388C>G (p.Pro463Arg) n.1786C>G c.1208C>G (p.Pro403Arg) c.1193C>G (p.Pro398Arg) | |
16 | g.56983392C>T | CA396008322 | CETP | c.1388C>T (p.Pro463Leu) n.1786C>T c.1208C>T (p.Pro403Leu) c.1193C>T (p.Pro398Leu) | |
16 | g.56983393T>A | CA495622618 | CETP | c.1389T>A (p.Pro463=) c.1209T>A (p.Pro403=) c.1194T>A (p.Pro398=) | |
16 | g.56983393T>C | CA495622620 | CETP | c.1389T>C (p.Pro463=) c.1209T>C (p.Pro403=) c.1194T>C (p.Pro398=) | gnomAD v4 |
16 | g.56983393T>G | CA495622622 | CETP | c.1389T>G (p.Pro463=) c.1209T>G (p.Pro403=) c.1194T>G (p.Pro398=) | gnomAD v4 |
16 | g.56983394G>A | CA396008323 | CETP | c.1390G>A (p.Glu464Lys) c.1210G>A (p.Glu404Lys) c.1195G>A (p.Glu399Lys) | |
16 | g.56983394G>C | CA396008325 | CETP | c.1390G>C (p.Glu464Gln) c.1210G>C (p.Glu404Gln) c.1195G>C (p.Glu399Gln) | |
16 | g.56983394G>T | CA396008324 | CETP | c.1390G>T (p.Glu464Ter) c.1210G>T (p.Glu404Ter) c.1195G>T (p.Glu399Ter) | |
16 | g.56983395A>C | CA396008326 | CETP | c.1391A>C (p.Glu464Ala) c.1211A>C (p.Glu404Ala) c.1196A>C (p.Glu399Ala) | COSMIC |
16 | g.56983395A>G | CA396008328 | CETP | c.1391A>G (p.Glu464Gly) c.1211A>G (p.Glu404Gly) c.1196A>G (p.Glu399Gly) | |
16 | g.56983395A>T | CA396008327 | CETP | c.1391A>T (p.Glu464Val) c.1211A>T (p.Glu404Val) c.1196A>T (p.Glu399Val) | |
16 | g.56983396G>A | CA495622638 | CETP | c.1392G>A (p.Glu464=) c.1212G>A (p.Glu404=) c.1197G>A (p.Glu399=) | |
16 | g.56983396G>C | CA396008329 | CETP | c.1392G>C (p.Glu464Asp) c.1212G>C (p.Glu404Asp) c.1197G>C (p.Glu399Asp) | |
16 | g.56983396G>T | CA396008330 | CETP | c.1392G>T (p.Glu464Asp) c.1212G>T (p.Glu404Asp) c.1197G>T (p.Glu399Asp) | |
16 | g.56983397del | CA2576003078 | CETP | c.1393del (p.Ile465LeufsTer28) c.1213del (p.Ile405LeufsTer28) c.1198del (p.Ile400LeufsTer28) | gnomAD v4 |
16 | g.56983397A= | CA2224402564 | CETP | c.1393A= (p.Ile465=) c.1213A= (p.Ile405=) c.1198A= (p.Ile400=) | |
16 | g.56983397A>C | CA396008331 | CETP | c.1393A>C (p.Ile465Leu) c.1213A>C (p.Ile405Leu) c.1198A>C (p.Ile400Leu) | |
16 | g.56983397A>G | CA396008332 | CETP | c.1393A>G (p.Ile465Val) c.1213A>G (p.Ile405Val) c.1198A>G (p.Ile400Val) | |
16 | g.56983397A>T | CA396008333 | CETP | c.1393A>T (p.Ile465Phe) c.1213A>T (p.Ile405Phe) c.1198A>T (p.Ile400Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56983398T>A | CA396008334 | CETP | c.1394T>A (p.Ile465Asn) c.1214T>A (p.Ile405Asn) c.1199T>A (p.Ile400Asn) | |
16 | g.56983398T>C | CA396008335 | CETP | c.1394T>C (p.Ile465Thr) c.1214T>C (p.Ile405Thr) c.1199T>C (p.Ile400Thr) | |
16 | g.56983398T>G | CA396008336 | CETP | c.1394T>G (p.Ile465Ser) c.1214T>G (p.Ile405Ser) c.1199T>G (p.Ile400Ser) | |
16 | g.56983399T>A | CA495622646 | CETP | c.1395T>A (p.Ile465=) c.1215T>A (p.Ile405=) c.1200T>A (p.Ile400=) | dbSNP |
16 | g.56983399T>C | CA495622648 | CETP | c.1395T>C (p.Ile465=) c.1215T>C (p.Ile405=) c.1200T>C (p.Ile400=) | |
16 | g.56983399T>G | CA396008337 | CETP | c.1395T>G (p.Ile465Met) c.1215T>G (p.Ile405Met) c.1200T>G (p.Ile400Met) | |
16 | g.56983400A>C | CA396008338 | CETP | c.1396A>C (p.Ile466Leu) c.1216A>C (p.Ile406Leu) c.1201A>C (p.Ile401Leu) | |
16 | g.56983400A>G | CA396008339 | CETP | c.1396A>G (p.Ile466Val) c.1216A>G (p.Ile406Val) c.1201A>G (p.Ile401Val) | |
16 | g.56983400A>T | CA396008340 | CETP | c.1396A>T (p.Ile466Phe) c.1216A>T (p.Ile406Phe) c.1201A>T (p.Ile401Phe) | |
16 | g.56983401T>A | CA396008341 | CETP | c.1397T>A (p.Ile466Asn) c.1217T>A (p.Ile406Asn) c.1202T>A (p.Ile401Asn) | |
16 | g.56983401T>C | CA396008343 | CETP | c.1397T>C (p.Ile466Thr) c.1217T>C (p.Ile406Thr) c.1202T>C (p.Ile401Thr) | |
16 | g.56983401T>G | CA396008342 | CETP | c.1397T>G (p.Ile466Ser) c.1217T>G (p.Ile406Ser) c.1202T>G (p.Ile401Ser) | |
16 | g.56983402C>A | CA495622659 | CETP | c.1398C>A (p.Ile466=) c.1218C>A (p.Ile406=) c.1203C>A (p.Ile401=) | |
16 | g.56983402C= | CA2224402565 | CETP | c.1398C= (p.Ile466=) c.1218C= (p.Ile406=) c.1203C= (p.Ile401=) | |
16 | g.56983402C>G | CA8071374 | CETP | c.1398C>G (p.Ile466Met) c.1218C>G (p.Ile406Met) c.1203C>G (p.Ile401Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56983402C>T | CA495622665 | CETP | c.1398C>T (p.Ile466=) c.1218C>T (p.Ile406=) c.1203C>T (p.Ile401=) | dbSNP gnomAD v4 |
16 | g.56983403A>C | CA396008344 | CETP | c.1399A>C (p.Thr467Pro) c.1219A>C (p.Thr407Pro) c.1204A>C (p.Thr402Pro) | |
16 | g.56983403A>G | CA396008345 | CETP | c.1399A>G (p.Thr467Ala) c.1219A>G (p.Thr407Ala) c.1204A>G (p.Thr402Ala) | gnomAD v4 |
16 | g.56983403A>T | CA396008346 | CETP | c.1399A>T (p.Thr467Ser) c.1219A>T (p.Thr407Ser) c.1204A>T (p.Thr402Ser) | |
16 | g.56983404C>A | CA396008347 | CETP | c.1400C>A (p.Thr467Asn) c.1220C>A (p.Thr407Asn) c.1205C>A (p.Thr402Asn) | |
16 | g.56983404C>G | CA396008348 | CETP | c.1400C>G (p.Thr467Ser) c.1220C>G (p.Thr407Ser) c.1205C>G (p.Thr402Ser) | |
16 | g.56983404C>T | CA396008349 | CETP | c.1400C>T (p.Thr467Ile) c.1220C>T (p.Thr407Ile) c.1205C>T (p.Thr402Ile) | |
16 | g.56983405T>A | CA495622674 | CETP | c.1401T>A (p.Thr467=) c.1221T>A (p.Thr407=) c.1206T>A (p.Thr402=) | |
16 | g.56983405T>C | CA495622676 | CETP | c.1401T>C (p.Thr467=) c.1221T>C (p.Thr407=) c.1206T>C (p.Thr402=) | |
16 | g.56983405T>G | CA495622678 | CETP | c.1401T>G (p.Thr467=) c.1221T>G (p.Thr407=) c.1206T>G (p.Thr402=) | |
16 | g.56983406C>A | CA495622681 | CETP | c.1402C>A (p.Arg468=) c.1222C>A (p.Arg408=) c.1207C>A (p.Arg403=) | |
16 | g.56983406C= | CA2224402566 | CETP | c.1402C= (p.Arg468=) c.1222C= (p.Arg408=) c.1207C= (p.Arg403=) | |
16 | g.56983406C>G | CA396008350 | CETP | c.1402C>G (p.Arg468Gly) c.1222C>G (p.Arg408Gly) c.1207C>G (p.Arg403Gly) | gnomAD v4 |
16 | g.56983406C>T | CA8071375 | CETP | c.1402C>T (p.Arg468Ter) c.1222C>T (p.Arg408Ter) c.1207C>T (p.Arg403Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56983407G>A | CA8071376 | CETP | c.1403G>A (p.Arg468Gln) c.1223G>A (p.Arg408Gln) c.1208G>A (p.Arg403Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |