CETP cholesteryl ester transfer protein

Canonical transcript: NM_000078

234 unique variant annotations were identified in 631 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
16-56995872-C-T c.-20C>T - 5-UTRSNV 1/16 - 1
16-56995905-ACA-A c.14_15del p.Thr5Serfs*95 Frameshift 1/16 - 1
16-56995908-T-A c.17T>A p.Val6Asp Missense 1/16 - 4
16-56995934-G-A c.43G>A p.Ala15Thr Missense 1/16 - 1
16-56995935-C-A c.44C>A p.Ala15Asp Missense 1/16 - 11
16-56995935-C-G c.44C>G p.Ala15Gly Missense 1/16 - 14
16-56995947-CC-GG c.56_57inv p.Ser19Trp Missense 1/16 - 1
16-56995957-C-A c.66C>A p.Thr22Thr Synonymous 1/16 - 5
16-56995957-C-G c.66C>G p.Thr22Thr Synonymous 1/16 - 1
16-56995957-C-T c.66C>T p.Thr22Thr Synonymous 1/16 - 1
16-56995963-C-A c.72C>A p.His24Gln Missense 1/16 - 1
16-56995963-C-T c.72C>T p.His24His Synonymous 1/16 - 1
16-56996060-C-A c.118+51C>A - IntronicSNV - 1/15 1
16-56996104-C-A c.118+95C>A - IntronicSNV - 1/15 5
16-56996158-T-C c.118+149T>C - IntronicSNV - 1/15 13
16-56996211-G-A c.118+202G>A - IntronicSNV - 1/15 37
16-56996211-G-C c.118+202G>C - IntronicSNV - 1/15 37
16-56996288-G-A c.118+279G>A - IntronicSNV - 1/15 162
16-56996649-C-A c.119-273C>A - IntronicSNV - 1/15 4
16-56996963-C-A c.160C>A p.Arg54Arg Synonymous 2/16 - 1
16-56996963-C-T c.160C>T p.Arg54* Nonsense 2/16 - 1
16-56996966-G-A c.163G>A p.Ala55Thr Missense 2/16 - 1
16-56997002-A-C c.199A>C p.Met67Leu Missense 2/16 - 1
16-56997002-A-T c.199A>T p.Met67Leu Missense 2/16 - 1
16-56997025-T-G c.222T>G p.Tyr74* Nonsense 2/16 - 3
16-56997072-A-G c.233+36A>G - IntronicSNV - 2/15 2
16-56997072-A-T c.233+36A>T - IntronicSNV - 2/15 2
16-56997233-G-A c.233+197G>A - IntronicSNV - 2/15 89
16-56997349-C-A c.233+313C>A - IntronicSNV - 2/15 2
16-56997351-A-AA c.233+315dup - IntronicInsertion - 2/15 12
16-56997353-A-C c.233+317A>C - IntronicSNV - 2/15 1
16-56997369-A-T c.233+333A>T - IntronicSNV - 2/15 4
16-56997551-C-T c.233+515C>T - IntronicSNV - 2/15 2
16-56998269-C-A c.233+1233C>A - IntronicSNV - 2/15 1
16-56998572-G-C c.233+1536G>C - IntronicSNV - 2/15 16
16-56998761-T-G c.233+1725T>G - IntronicSNV - 2/15 1
16-56998918-A-C c.233+1882A>C - IntronicSNV - 2/15 7
16-56998918-A-G c.233+1882A>G - IntronicSNV - 2/15 7
16-56999258-A-C c.233+2222A>C - IntronicSNV - 2/15 25
16-56999328-C-T c.233+2292C>T - IntronicSNV - 2/15 27
16-56999345-T-C c.233+2309T>C - IntronicSNV - 2/15 1
16-56999949-A-G c.233+2913A>G - IntronicSNV - 2/15 9
16-56999991-AA-AAAA c.233+2955_233+2956dup - IntronicInsertion - 2/15 1
16-56999992-A-AA c.233+2956dup - IntronicInsertion - 2/15 1
16-57000284-G-A c.234-3014G>A - IntronicSNV - 2/15 16
16-57000284-G-C c.234-3014G>C - IntronicSNV - 2/15 16
16-57000696-T-A c.234-2602T>A - IntronicSNV - 2/15 5
16-57000696-T-G c.234-2602T>G - IntronicSNV - 2/15 5
16-57000885-G-A c.234-2413G>A - IntronicSNV - 2/15 19
16-57000938-G-A c.234-2360G>A - IntronicSNV - 2/15 8
16-57001216-C-T c.234-2082C>T - IntronicSNV - 2/15 8
16-57001250-T-C c.234-2048T>C - IntronicSNV - 2/15 1
16-57001438-G-A c.234-1860G>A - IntronicSNV - 2/15 8
16-57001584-C-A c.234-1714C>A - IntronicSNV - 2/15 1
16-57001985-A-C c.234-1313A>C - IntronicSNV - 2/15 2
16-57001985-A-T c.234-1313A>T - IntronicSNV - 2/15 2
16-57002152-T-C c.234-1146T>C - IntronicSNV - 2/15 1
16-57002242-C-T c.234-1056C>T - IntronicSNV - 2/15 1
16-57002404-C-A c.234-894C>A - IntronicSNV - 2/15 18
16-57002663-C-A c.234-635C>A - IntronicSNV - 2/15 11
16-57002663-C-G c.234-635C>G - IntronicSNV - 2/15 11
16-57002663-C-T c.234-635C>T - IntronicSNV - 2/15 11
16-57002732-T-G c.234-566T>G - IntronicSNV - 2/15 45
16-57003025-G-T c.234-273G>T - IntronicSNV - 2/15 1
16-57003146-T-C c.234-152T>C - IntronicSNV - 2/15 12
16-57003250-C-A c.234-48C>A - IntronicSNV - 2/15 1
16-57003250-C-G c.234-48C>G - IntronicSNV - 2/15 1
16-57003250-C-T c.234-48C>T - IntronicSNV - 2/15 1
16-57003326-AG-CC c.262_263delinsCC p.Ser88Pro Missense 3/16 - 1
16-57003374-C-T c.310C>T p.Gln104* Nonsense 3/16 - 1
16-57003536-C-T c.382C>T p.Gln128* Nonsense 4/16 - 1
16-57003587-ACA-A c.433_434del p.Gln145Alafs*4 Frameshift 4/16 - 1
16-57003587-C-T c.433C>T p.Gln145* Nonsense 4/16 - 1
16-57003723-G-T c.440-103G>T - IntronicSNV - 4/15 3
16-57003846-C-A c.460C>A p.Arg154Arg Synonymous 5/16 - 2
16-57003846-C-G c.460C>G p.Arg154Gly Missense 5/16 - 2
16-57003846-C-T c.460C>T p.Arg154Trp Missense 5/16 - 3
16-57003861-TG-T c.475del p.Asp159Thrfs*34 Frameshift 5/16 - 1
16-57003870-C-G c.484C>G p.Leu162Val Missense 5/16 - 1
16-57003977-T-C c.527+64T>C - IntronicSNV - 5/15 4
16-57003980-T-C c.527+67T>C - IntronicSNV - 5/15 2
16-57004459-G-A c.528-486G>A - IntronicSNV - 5/15 1
16-57004662-C-A c.528-283C>A - IntronicSNV - 5/15 1
16-57004662-C-T c.528-283C>T - IntronicSNV - 5/15 1
16-57004889-G-A c.528-56G>A - IntronicSNV - 5/15 55
16-57004951-G-A c.534G>A p.Gly178Gly Synonymous 6/16 - 2
16-57004953-G-A c.536G>A p.Trp179* Nonsense 6/16 - 1
16-57004954-G-A c.537G>A p.Trp179* Nonsense 6/16 - 1
16-57004961-C-T c.544C>T p.Gln182* Nonsense 6/16 - 1
16-57005012-CA-GC c.595_596delinsGC p.Gln199Ala Missense 6/16 - 2
16-57005015-G-T c.597+1G>T - IntronicSNV - 6/15 1
16-57005220-C-G c.598-13C>G - IntronicSNV - 6/15 1
16-57005257-T-A c.622T>A p.Ser208Thr Missense 7/16 - 2
16-57005271-C-T c.636C>T p.Ala212Ala Synonymous 7/16 - 1
16-57005272-G-A c.637G>A p.Asp213Asn Missense 7/16 - 1
16-57005281-C-T c.646C>T p.Gln216* Nonsense 7/16 - 1
16-57005284-ACA-TGT c.649_651inv p.Thr217Cys Missense 7/16 - 1
16-57005301-C-T c.658+8C>T - IntronicSNV - 7/15 33
16-57005425-T-C c.658+132T>C - IntronicSNV - 7/15 1
16-57005479-C-A c.658+186C>A - IntronicSNV - 7/15 92
16-57005550-C-T c.658+257C>T - IntronicSNV - 7/15 10
16-57005620-T-C c.659-284T>C - IntronicSNV - 7/15 2
16-57005882-C-A c.659-22C>A - IntronicSNV - 7/15 3
16-57005882-C-G c.659-22C>G - IntronicSNV - 7/15 3
16-57005882-C-T c.659-22C>T - IntronicSNV - 7/15 3
16-57005883-G-A c.659-21G>A - IntronicSNV - 7/15 1
16-57005908-C-A c.663C>A p.Ser221Arg Missense 8/16 - 1
16-57005926-C-G c.681C>G p.Asp227Glu Missense 8/16 - 1
16-57006072-G-A c.750+77G>A - IntronicSNV - 8/15 2
16-57006072-G-C c.750+77G>C - IntronicSNV - 8/15 2
16-57006305-C-T c.750+310C>T - IntronicSNV - 8/15 1
16-57006378-A-G c.750+383A>G - IntronicSNV - 8/15 28
16-57006590-C-G c.750+595C>G - IntronicSNV - 8/15 68
16-57006590-C-T c.750+595C>T - IntronicSNV - 8/15 68
16-57006829-T-A c.751-414T>A - IntronicSNV - 8/15 11
16-57006829-T-G c.751-414T>G - IntronicSNV - 8/15 11
16-57007192-T-C c.751-51T>C - IntronicSNV - 8/15 18
16-57007248-T-C c.756T>C p.His252His Synonymous 9/16 - 1
16-57007262-A-G c.770A>G p.Asn257Ser Missense 9/16 - 1
16-57007286-C-T c.794C>T p.Pro265Leu Missense 9/16 - 1
16-57007296-G-A c.804G>A p.Ser268Ser Synonymous 9/16 - 1
16-57007296-G-T c.804G>T p.Ser268Ser Synonymous 9/16 - 1
16-57007317-C-A c.825C>A p.Ser275Ser Synonymous 9/16 - 1
16-57007317-C-G c.825C>G p.Ser275Ser Synonymous 9/16 - 1
16-57007317-C-T c.825C>T p.Ser275Ser Synonymous 9/16 - 1
16-57007345-C-T c.853C>T p.Arg285* Nonsense 9/16 - 1
16-57007353-C-T c.861C>T p.Phe287Phe Synonymous 9/16 - 47
16-57007385-G-C c.893G>C p.Gly298Ala Missense 9/16 - 1
16-57007413-C-G c.921C>G p.Asp307Glu Missense 9/16 - 1
16-57007413-C-T c.921C>T p.Asp307Asp Synonymous 9/16 - 1
16-57007446-T-A c.930+24T>A - IntronicSNV - 9/15 19
16-57007446-T-G c.930+24T>G - IntronicSNV - 9/15 19
16-57007451-G-A c.930+29G>A - IntronicSNV - 9/15 33
16-57007512-G-A c.930+90G>A - IntronicSNV - 9/15 2
16-57007610-G-A c.930+188G>A - IntronicSNV - 9/15 9
16-57007652-A-G c.930+230A>G - IntronicSNV - 9/15 1
16-57007734-A-C c.930+312A>C - IntronicSNV - 9/15 2
16-57007734-A-G c.930+312A>G - IntronicSNV - 9/15 2
16-57007734-A-T c.930+312A>T - IntronicSNV - 9/15 2
16-57008048-G-A c.930+626G>A - IntronicSNV - 9/15 1
16-57008227-G-A c.931-786G>A - IntronicSNV - 9/15 4
16-57008287-A-G c.931-726A>G - IntronicSNV - 9/15 2
16-57008508-A-C c.931-505A>C - IntronicSNV - 9/15 15
16-57008508-A-T c.931-505A>T - IntronicSNV - 9/15 15
16-57009022-G-A c.940G>A p.Glu314Lys Missense 10/16 - 3
16-57009029-G-C c.947G>C p.Trp316Ser Missense 10/16 - 2
16-57009165-A-G c.981+102A>G - IntronicSNV - 10/15 1
16-57009195-T-G c.981+132T>G - IntronicSNV - 10/15 2
16-57009200-C-T c.981+137C>T - IntronicSNV - 10/15 1
16-57009376-T-A c.981+313T>A - IntronicSNV - 10/15 11
16-57009388-G-A c.981+325G>A - IntronicSNV - 10/15 19
16-57009388-G-T c.981+325G>T - IntronicSNV - 10/15 19
16-57009511-C-T c.981+448C>T - IntronicSNV - 10/15 1
16-57009544-T-C c.981+481T>C - IntronicSNV - 10/15 1
16-57009608-A-G c.981+545A>G - IntronicSNV - 10/15 1
16-57009608-A-T c.981+545A>T - IntronicSNV - 10/15 1
16-57009769-T-A c.981+706T>A - IntronicSNV - 10/15 6
16-57009799-C-A c.981+736C>A - IntronicSNV - 10/15 2
16-57009799-C-G c.981+736C>G - IntronicSNV - 10/15 2
16-57009799-C-T c.981+736C>T - IntronicSNV - 10/15 2
16-57009932-C-T c.981+869C>T - IntronicSNV - 10/15 12
16-57009941-T-C c.981+878T>C - IntronicSNV - 10/15 15
16-57009985-T-C c.981+922T>C - IntronicSNV - 10/15 6
16-57010232-C-T c.981+1169C>T - IntronicSNV - 10/15 3
16-57010382-T-G c.981+1319T>G - IntronicSNV - 10/15 1
16-57010486-C-T c.981+1423C>T - IntronicSNV - 10/15 2
16-57010828-A-G c.982-1175A>G - IntronicSNV - 10/15 2
16-57010828-A-T c.982-1175A>T - IntronicSNV - 10/15 2
16-57010948-T-G c.982-1055T>G - IntronicSNV - 10/15 6
16-57010994-T-G c.982-1009T>G - IntronicSNV - 10/15 1
16-57011185-G-A c.982-818G>A - IntronicSNV - 10/15 27
16-57011243-C-A c.982-760C>A - IntronicSNV - 10/15 5
16-57011243-C-T c.982-760C>T - IntronicSNV - 10/15 5
16-57011452-G-A c.982-551G>A - IntronicSNV - 10/15 11
16-57011936-C-T c.982-67C>T - IntronicSNV - 10/15 6
16-57012012-G-A c.991G>A p.Gly331Ser Missense 11/16 - 5
16-57012013-G-A c.992G>A p.Gly331Asp Missense 11/16 - 1
16-57012090-G-T c.1069G>T p.Val357Phe Missense 11/16 - 1
16-57012094-A-G c.1073A>G p.Asn358Ser Missense 11/16 - 1
16-57012174-C-T c.1146+7C>T - IntronicSNV - 11/15 2
16-57012354-C-T c.1146+187C>T - IntronicSNV - 11/15 2
16-57012379-T-G c.1146+212T>G - IntronicSNV - 11/15 19
16-57012563-A-T c.1146+396A>T - IntronicSNV - 11/15 6
16-57012644-T-G c.1146+477T>G - IntronicSNV - 11/15 1
16-57012699-A-G c.1146+532A>G - IntronicSNV - 11/15 2
16-57012936-G-A c.1146+769G>A - IntronicSNV - 11/15 1
16-57014319-A-G c.1147-751A>G - IntronicSNV - 11/15 2
16-57014411-T-C c.1147-659T>C - IntronicSNV - 11/15 1
16-57014422-C-T c.1147-648C>T - IntronicSNV - 11/15 1
16-57014610-T-A c.1147-460T>A - IntronicSNV - 11/15 3
16-57014610-T-C c.1147-460T>C - IntronicSNV - 11/15 3
16-57014875-A-C c.1147-195A>C - IntronicSNV - 11/15 8
16-57014875-A-G c.1147-195A>G - IntronicSNV - 11/15 8
16-57015076-G-A c.1153G>A p.Val385Met Missense 12/16 - 4
16-57015076-G-C c.1153G>C p.Val385Leu Missense 12/16 - 3
16-57015084-C-A c.1161C>A p.Thr387Thr Synonymous 12/16 - 3
16-57015084-C-G c.1161C>G p.Thr387Thr Synonymous 12/16 - 3
16-57015084-C-T c.1161C>T p.Thr387Thr Synonymous 12/16 - 3
16-57015091-G-C c.1168G>C p.Ala390Pro Missense 12/16 - 71
16-57015124-C-G c.1201C>G p.Leu401Val Missense 12/16 - 1
16-57015463-G-A c.1215-96G>A - IntronicSNV - 12/15 3
16-57015544-G-A c.1215-15G>A - IntronicSNV - 12/15 2
16-57015544-G-T c.1215-15G>T - IntronicSNV - 12/15 2
16-57015545-C-A c.1215-14C>A - IntronicSNV - 12/15 24
16-57015545-C-T c.1215-14C>T - IntronicSNV - 12/15 24
16-57015557-A-G c.1215-2A>G - IntronicSNV - 12/15 1
16-57015580-C-T c.1236C>T p.Ser412Ser Synonymous 13/16 - 1
16-57015592-G-C c.1248G>C p.Glu416Asp Missense 13/16 - 1
16-57015592-G-T c.1248G>T p.Glu416Asp Missense 13/16 - 1
16-57016085-C-T c.1257C>T p.Ser419Ser Synonymous 14/16 - 1
16-57016086-G-T c.1258G>T p.Glu420* Nonsense 14/16 - 1
16-57016092-G-A c.1264G>A p.Val422Ile Missense 14/16 - 162
16-57016092-G-C c.1264G>C p.Val422Leu Missense 14/16 - 152
16-57016107-C-T c.1279C>T p.Gln427* Nonsense 14/16 - 1
16-57016113-A-G c.1285A>G p.Met429Val Missense 14/16 - 1
16-57016127-G-A c.1299G>A p.Val433Val Synonymous 14/16 - 3
16-57016144-T-C c.1316T>C p.Met439Thr Missense 14/16 - 2
16-57016150-G-A c.1321+1G>A - IntronicSNV - 14/15 6
16-57016150-G-T c.1321+1G>T - IntronicSNV - 14/15 6
16-57016302-T-C c.1321+153T>C - IntronicSNV - 14/15 2
16-57016314-A-G c.1321+165A>G - IntronicSNV - 14/15 1
16-57016519-T-C c.1321+370T>C - IntronicSNV - 14/15 2
16-57016950-C-T c.1322-288C>T - IntronicSNV - 14/15 3
16-57017002-T-G c.1322-236T>G - IntronicSNV - 14/15 10
16-57017279-G-A c.1363G>A p.Val455Met Missense 15/16 - 2
16-57017279-G-C c.1363G>C p.Val455Leu Missense 15/16 - 2
16-57017279-G-T c.1363G>T p.Val455Leu Missense 15/16 - 2
16-57017285-CTC-TGG c.1369_1371delinsTGG p.Leu457Trp Missense 15/16 - 2
16-57017292-A-G c.1376A>G p.Asp459Gly Missense 15/16 - 41
16-57017318-C-T c.1402C>T p.Arg468* Nonsense 15/16 - 1
16-57017319-G-A c.1403G>A p.Arg468Gln Missense 15/16 - 46
16-57017474-G-A c.1408-30G>A - IntronicSNV - 15/15 16
16-57017552-G-A c.1456G>A p.Val486Met Missense 16/16 - 2
16-57017662-G-A c.*84G>A - 3-UTRSNV 16/16 - 28