IDH3B

IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta

Annotation transcript: NM_006899.5

434 unique variant annotations were identified in 211 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
20-2639107-G-A c.*290C>T - 3-UTRSNV 12/12 - 1
20-2639107-G-C c.*290C>G - 3-UTRSNV 12/12 - 1
20-2639107-G-T c.*290C>A - 3-UTRSNV 12/12 - 1
20-2639129-C-T c.*268G>A - 3-UTRSNV 12/12 - 1
20-2639138-T-C c.*259A>G - 3-UTRSNV 12/12 - 1
20-2639143-T-C c.*254A>G - 3-UTRSNV 12/12 - 1
20-2639149-C-G c.*248G>C - 3-UTRSNV 12/12 - 1
20-2639150-C-A c.*247G>T - 3-UTRSNV 12/12 - 1
20-2639162-T-C c.*235A>G - 3-UTRSNV 12/12 - 2
20-2639164-C-T c.*233G>A - 3-UTRSNV 12/12 - 1
20-2639358-G-A c.*39C>T - 3-UTRSNV 12/12 - 1
20-2639358-G-T c.*39C>A - 3-UTRSNV 12/12 - 1
20-2639404-C-T c.1151G>A p.G384E Missense 12/12 - 1
20-2639408-T-C c.1147A>G p.K383E Missense 12/12 - 1
20-2639410-G-A c.1145C>T p.T382I Missense 12/12 - 1
20-2639414-G-A c.1141C>T p.Q381* Nonsense 12/12 - 1
20-2639420-G-A c.1135C>T p.H379Y Missense 12/12 - 1
20-2639420-G-C c.1135C>G p.H379D Missense 12/12 - 3
20-2639423-C-T c.1132G>A p.G378S Missense 12/12 - 2
20-2639429-C-G c.1126G>C p.V376L Missense 12/12 - 1
20-2639430-A-C c.1125T>G p.S375= Synonymous 12/12 - 1
20-2639430-A-G c.1125T>C p.S375= Synonymous 12/12 - 1
20-2639430-A-T c.1125T>A p.S375= Synonymous 12/12 - 1
20-2639432-A-G c.1123T>C p.S375P Missense 12/12 - 1
20-2639434-CTT-C c.1120_1121del p.K374Vfs*9 Frameshift 12/12 - 1
20-2639436-G-A c.1119C>T p.I373= Synonymous 12/12 - 1
20-2639436-G-C c.1119C>G p.I373M Missense 12/12 - 3
20-2639437-A-T c.1118T>A p.I373N Missense 12/12 - 2
20-2639444-C-T c.1111G>A p.D371N Missense 12/12 - 1
20-2639446-G-A c.1109C>T p.T370I Missense 12/12 - 1
20-2639447-T-C c.1108A>G p.T370A Missense 12/12 - 4
20-2639450-T-C c.1105A>G p.T369A Missense 12/12 - 1
20-2639451-GG-CT c.1103_1104delinsAG p.T368K Missense 12/12 - 1
20-2639453-T-C c.1102A>G p.T368A Missense 12/12 - 1
20-2639457-G-T c.1098C>A p.Y366* Nonsense 12/12 - 1
20-2639458-T-C c.1097A>G p.Y366C Missense 12/12 - 1
20-2639459-A-G c.1096T>C p.Y366H Missense 12/12 - 1
20-2639462-C-T c.1093G>A p.G365S Missense 12/12 - 1
20-2639463-G-A c.1092C>T p.G364= Synonymous 12/12 - 1
20-2639463-G-C c.1092C>G p.G364= Synonymous 12/12 - 1
20-2639463-G-T c.1092C>A p.G364= Synonymous 12/12 - 1
20-2639464-C-G c.1091G>C p.G364A Missense 12/12 - 1
20-2639465-C-A c.1090G>T p.G364C Missense 12/12 - 1
20-2639469-G-A c.1086C>T p.D362= Synonymous 12/12 - 1
20-2639471-C-G c.1084G>C p.D362H Missense 12/12 - 1
20-2639473-C-T c.1082G>A p.R361Q Missense 12/12 - 7
20-2639476-G-A c.1079C>T p.T360I Missense 12/12 - 1
20-2639477-T-C c.1078A>G p.T360A Missense 12/12 - 3
20-2639479-C-T c.1076G>A p.R359Q Missense 12/12 - 2
20-2639480-G-A c.1075C>T p.R359W Missense 12/12 - 1
20-2639570-G-T c.1072-87C>A - IntronicSNV - 11/11 4
20-2639728-C-A c.1072-245G>T - IntronicSNV - 11/11 3
20-2639728-C-T c.1072-245G>A - IntronicSNV - 11/11 3
20-2639729-G-A c.1072-246C>T - IntronicSNV - 11/11 1
20-2639728-C-CGCAGATCAGAGGCAGGATGTGGCTACCGAGCAGGCAAAGATGATGGGAAAT c.1072-246_1072-245insATTTCCCATCATCTTTGCCTGCTCGGTAGCCACATCCTGCCTCTGATCTGC - IntronicInsertion - 11/11 2
20-2639985-T-A c.1071+186A>T - IntronicSNV - 11/11 1
20-2640102-G-A c.1071+69C>T - IntronicSNV - 11/11 4
20-2640174-G-T c.1068C>A p.G356= Synonymous 11/12 - 1
20-2640176-C-G c.1066G>C p.G356R Missense 11/12 - 1
20-2640183-G-A c.1059C>T p.I353= Synonymous 11/12 - 1
20-2640183-G-C c.1059C>G p.I353M Missense 11/12 - 1
20-2640183-G-T c.1059C>A p.I353= Synonymous 11/12 - 1
20-2640187-A-G c.1055T>C p.V352A Missense 11/12 - 1
20-2640192-C-T c.1050G>A p.K350= Synonymous 11/12 - 2
20-2640195-C-T c.1047G>A p.V349= Synonymous 11/12 - 1
20-2640198-C-A c.1044G>T p.A348= Synonymous 11/12 - 1
20-2640198-C-G c.1044G>C p.A348= Synonymous 11/12 - 1
20-2640198-C-T c.1044G>A p.A348= Synonymous 11/12 - 1
20-2640199-G-A c.1043C>T p.A348V Missense 11/12 - 2
20-2640200-C-T c.1042G>A p.A348T Missense 11/12 - 1
20-2640206-C-T c.1036G>A p.A346T Missense 11/12 - 2
20-2640210-C-T c.1032G>A p.M344I Missense 11/12 - 1
20-2640217-G-T c.1025C>A p.S342Y Missense 11/12 - 1
20-2640221-G-C c.1021C>G p.H341D Missense 11/12 - 1
20-2640228-A-C c.1014T>G p.L338= Synonymous 11/12 - 1
20-2640228-A-G c.1014T>C p.L338= Synonymous 11/12 - 1
20-2640228-A-T c.1014T>A p.L338= Synonymous 11/12 - 1
20-2640230-G-A c.1012C>T p.L338F Missense 11/12 - 1
20-2640270-G-A c.1011-39C>T - IntronicSNV - 10/11 1
20-2640280-G-A c.1011-49C>T - IntronicSNV - 10/11 1
20-2640340-C-T c.1010+5G>A - IntronicSNV - 10/11 1
20-2640344-C-T c.1010+1G>A - IntronicSNV - 10/11 2
20-2640345-T-G c.1010A>C p.N337T Missense 10/12 - 3
20-2640352-G-A c.1003C>T p.H335Y Missense 10/12 - 1
20-2640352-G-C c.1003C>G p.H335D Missense 10/12 - 6
20-2640353-CCG-ACA c.1000_1002delinsTGT p.R334C Missense 10/12 - 2
20-2640354-C-T c.1001G>A p.R334Q Missense 10/12 - 2
20-2640355-G-A c.1000C>T p.R334W Missense 10/12 - 2
20-2640363-T-C c.992A>G p.N331S Missense 10/12 - 1
20-2640367-A-G c.988T>C p.S330P Missense 10/12 - 1
20-2640370-C-G c.985G>C p.A329P Missense 10/12 - 1
20-2640372-G-A c.983C>T p.S328L Missense 10/12 - 2
20-2640374-C-A c.981G>T p.L327= Synonymous 10/12 - 1
20-2640374-C-G c.981G>C p.L327= Synonymous 10/12 - 1
20-2640374-C-T c.981G>A p.L327= Synonymous 10/12 - 1
20-2640376-G-A c.979C>T p.L327= Synonymous 10/12 - 1
20-2640385-C-T c.970G>A p.A324T Missense 10/12 - 2
20-2640387-G-A c.968C>T p.T323M Missense 10/12 - 2
20-2640387-G-T c.968C>A p.T323K Missense 10/12 - 1
20-2640389-G-A c.966C>T p.P322= Synonymous 10/12 - 1
20-2640389-G-C c.966C>G p.P322= Synonymous 10/12 - 1
20-2640389-G-T c.966C>A p.P322= Synonymous 10/12 - 1
20-2640392-A-C c.963T>G p.N321K Missense 10/12 - 1
20-2640396-G-T c.959C>A p.A320D Missense 10/12 - 1
20-2640399-A-C c.956T>G p.I319R Missense 10/12 - 1
20-2640405-C-T c.950G>A p.R317K Missense 10/12 - 2
20-2640407-G-A c.948C>T p.G316= Synonymous 10/12 - 1
20-2640408-C-T c.947G>A p.G316D Missense 10/12 - 3
20-2640409-C-T c.946G>A p.G316S Missense 10/12 - 1
20-2640420-G-A c.935C>T p.A312V Missense 10/12 - 2
20-2640423-A-C c.932T>G p.F311C Missense 10/12 - 1
20-2640427-G-A c.928C>T p.P310S Missense 10/12 - 3
20-2640429-T-G c.926A>C p.H309P Missense 10/12 - 1
20-2640432-C-T c.923G>A p.R308Q Missense 10/12 - 1
20-2640430-GCCGGGCA-G c.918_924del p.A307Tfs*11 Frameshift 10/12 - 1
20-2640431-C-A c.924G>T p.R308= Synonymous 10/12 - 3
20-2640431-C-G c.924G>C p.R308= Synonymous 10/12 - 3
20-2640431-C-T c.924G>A p.R308= Synonymous 10/12 - 3
20-2640433-G-T c.922C>A p.R308= Synonymous 10/12 - 3
20-2640436-C-T c.919G>A p.A307T Missense 10/12 - 1
20-2640488-T-C c.916-49A>G - IntronicSNV - 9/11 5
20-2640677-G-A c.914C>T p.T305M Missense 9/12 - 2
20-2640680-T-C c.911A>G p.E304G Missense 9/12 - 1
20-2640681-C-G c.910G>C p.E304Q Missense 9/12 - 3
20-2640683-A-G c.908T>C p.F303S Missense 9/12 - 2
20-2640684-A-C c.907T>G p.F303V Missense 9/12 - 1
20-2640689-G-A c.902C>T p.A301V Missense 9/12 - 1
20-2640690-C-T c.901G>A p.A301T Missense 9/12 - 1
20-2640691-G-A c.900C>T p.Y300= Synonymous 9/12 - 3
20-2640692-T-C c.899A>G p.Y300C Missense 9/12 - 1
20-2640693-A-G c.898T>C p.Y300H Missense 9/12 - 1
20-2640699-C-T c.892G>A p.A298T Missense 9/12 - 1
20-2640706-G-C c.885C>G p.S295R Missense 9/12 - 1
20-2640706-G-T c.885C>A p.S295R Missense 9/12 - 2
20-2640708-T-G c.883A>C p.S295R Missense 9/12 - 1
20-2640713-C-A c.878G>T p.G293V Missense 9/12 - 2
20-2640713-C-G c.878G>C p.G293A Missense 9/12 - 1
20-2640726-C-T c.865G>A p.G289S Missense 9/12 - 1
20-2640727-A-C c.864T>G p.A288= Synonymous 9/12 - 1
20-2640727-A-G c.864T>C p.A288= Synonymous 9/12 - 1
20-2640727-A-T c.864T>A p.A288= Synonymous 9/12 - 1
20-2640729-C-T c.862G>A p.A288T Missense 9/12 - 1
20-2640731-C-G c.860G>C p.G287A Missense 9/12 - 2
20-2640732-C-A c.859G>T p.G287* Nonsense 9/12 - 1
20-2640732-C-T c.859G>A p.G287R Missense 9/12 - 1
20-2640734-C-T c.857G>A p.G286E Missense 9/12 - 1
20-2640738-C-G c.853G>C p.V285L Missense 9/12 - 1
20-2640739-C-A c.852G>T p.L284= Synonymous 9/12 - 1
20-2640739-C-G c.852G>C p.L284= Synonymous 9/12 - 1
20-2640739-C-T c.852G>A p.L284= Synonymous 9/12 - 1
20-2640741-G-A c.850C>T p.L284= Synonymous 9/12 - 2
20-2640746-G-T c.845C>A p.A282D Missense 9/12 - 1
20-2640747-C-T c.844G>A p.A282T Missense 9/12 - 1
20-2640751-C-A c.840G>T p.L280= Synonymous 9/12 - 1
20-2640751-C-G c.840G>C p.L280= Synonymous 9/12 - 1
20-2640751-C-T c.840G>A p.L280= Synonymous 9/12 - 1
20-2640753-G-A c.838C>T p.L280= Synonymous 9/12 - 1
20-2640753-G-C c.838C>G p.L280V Missense 9/12 - 3
20-2640759-TC-T c.832del p.D278Tfs*42 Frameshift 9/12 - 1
20-2640761-A-G c.830T>C p.I277T Missense 9/12 - 1
20-2640773-T-C c.818A>G p.Y273C Missense 9/12 - 2
20-2640779-T-C c.812A>G p.N271S Missense 9/12 - 3
20-2640780-T-C c.811A>G p.N271D Missense 9/12 - 1
20-2640788-A-G c.803T>C p.V268A Missense 9/12 - 1
20-2640789-C-T c.802G>A p.V268M Missense 9/12 - 1
20-2640799-A-C c.792T>G p.F264L Missense 9/12 - 1
20-2640803-T-C c.788A>G p.Q263R Missense 9/12 - 1
20-2640804-G-C c.787C>G p.Q263E Missense 9/12 - 2
20-2640811-A-T c.780T>A p.N260K Missense 9/12 - 1
20-2640920-A-C c.757T>G p.C253G Missense 8/12 - 1
20-2640920-A-T c.757T>A p.C253S Missense 8/12 - 1
20-2640925-T-C c.752A>G p.D251G Missense 8/12 - 1
20-2640926-C-T c.751G>A p.D251N Missense 8/12 - 1
20-2640933-C-A c.744G>T p.M248I Missense 8/12 - 1
20-2640933-C-G c.744G>C p.M248I Missense 8/12 - 1
20-2640933-C-T c.744G>A p.M248I Missense 8/12 - 2
20-2640938-T-C c.739A>G p.T247A Missense 8/12 - 1
20-2640940-T-C c.737A>G p.E246G Missense 8/12 - 1
20-2640949-A-T c.728T>A p.I243N Missense 8/12 - 1
20-2640951-T-G c.726A>C p.K242N Missense 8/12 - 1
20-2640955-G-A c.722C>T p.P241L Missense 8/12 - 1
20-2640956-G-A c.721C>T p.P241S Missense 8/12 - 1
20-2640981-GCA-CTC c.694_696delinsGAG p.C232E Missense 8/12 - 1
20-2640982-C-A c.695G>T p.C232F Missense 8/12 - 1
20-2640994-A-G c.683T>C p.L228S Missense 8/12 - 1
20-2641001-C-T c.676G>A p.D226N Missense 8/12 - 1
20-2641004-C-A c.673G>T p.G225W Missense 8/12 - 1
20-2641006-A-T c.671T>A p.L224H Missense 8/12 - 1
20-2641007-G-C c.670C>G p.L224V Missense 8/12 - 2
20-2641104-T-A c.664A>T p.M222L Missense 7/12 - 1
20-2641107-T-C c.661A>G p.I221V Missense 7/12 - 1
20-2641108-G-A c.660C>T p.N220= Synonymous 7/12 - 1
20-2641127-G-A c.641C>T p.T214I Missense 7/12 - 1
20-2641131-C-T c.637G>A p.V213I Missense 7/12 - 1
20-2641132-C-A c.636G>T p.K212N Missense 7/12 - 2
20-2641132-C-G c.636G>C p.K212N Missense 7/12 - 1
20-2641136-C-A c.632G>T p.G211V Missense 7/12 - 1
20-2641136-C-T c.632G>A p.G211D Missense 7/12 - 1
20-2641140-G-A c.628C>T p.R210W Missense 7/12 - 1
20-2641145-T-C c.623A>G p.K208R Missense 7/12 - 2
20-2641151-G-T c.617C>A p.T206N Missense 7/12 - 1
20-2641155-C-G c.613G>C p.A205P Missense 7/12 - 1
20-2641157-T-C c.611A>G p.Y204C Missense 7/12 - 1
20-2641160-T-G c.608A>C p.D203A Missense 7/12 - 1
20-2641167-C-G c.601G>C p.A201P Missense 7/12 - 1
20-2641167-C-T c.601G>A p.A201T Missense 7/12 - 2
20-2641168-G-A c.600C>T p.F200= Synonymous 7/12 - 1
20-2641170-A-T c.598T>A p.F200I Missense 7/12 - 1
20-2641176-C-A c.592G>T p.A198S Missense 7/12 - 2
20-2641180-C-A c.588G>T p.R196= Synonymous 7/12 - 1
20-2641184-T-G c.584A>C p.Q195P Missense 7/12 - 2
20-2641185-G-A c.583C>T p.Q195* Nonsense 7/12 - 4
20-2641193-G-T c.575C>A p.A192D Missense 7/12 - 1
20-2641194-C-T c.574G>A p.A192T Missense 7/12 - 1
20-2641195-TCG-ACA c.571_573delinsTGT p.R191C Missense 7/12 - 1
20-2641196-C-T c.572G>A p.R191Q Missense 7/12 - 1
20-2641195-T-A c.573A>T p.R191= Synonymous 7/12 - 2
20-2641195-T-C c.573A>G p.R191= Synonymous 7/12 - 2
20-2641195-T-G c.573A>C p.R191= Synonymous 7/12 - 2
20-2641197-G-T c.571C>A p.R191= Synonymous 7/12 - 3
20-2641199-G-C c.569C>G p.T190R Missense 7/12 - 1
20-2641207-C-T c.561G>A p.K187= Synonymous 7/12 - 1
20-2641208-T-C c.560A>G p.K187R Missense 7/12 - 1
20-2641218-C-A c.550G>T p.E184* Nonsense 7/12 - 1
20-2641235-C-G c.533G>C p.S178T Missense 7/12 - 1
20-2641236-T-C c.532A>G p.S178G Missense 7/12 - 1
20-2641312-C-T c.531+31G>A - IntronicSNV - 6/11 3
20-2641335-G-A c.531+8C>T - IntronicSNV - 6/11 1
20-2641345-C-G c.529G>C p.E177Q Missense 6/12 - 1
20-2641346-A-C c.528T>G p.H176Q Missense 6/12 - 2
20-2641349-T-A c.525A>T p.E175D Missense 6/12 - 1
20-2641351-C-A c.523G>T p.E175* Nonsense 6/12 - 2
20-2641357-A-C c.517T>G p.S173A Missense 6/12 - 1
20-2641361-G-A c.513C>T p.Y171= Synonymous 6/12 - 1
20-2641361-G-T c.513C>A p.Y171* Nonsense 6/12 - 1
20-2641367-C-A c.507G>T p.G169= Synonymous 6/12 - 2
20-2641367-C-G c.507G>C p.G169= Synonymous 6/12 - 2
20-2641367-C-T c.507G>A p.G169= Synonymous 6/12 - 2
20-2641376-C-A c.498G>T p.Q166H Missense 6/12 - 2
20-2641376-C-G c.498G>C p.Q166H Missense 6/12 - 1
20-2641376-C-T c.498G>A p.Q166= Synonymous 6/12 - 1
20-2641379-C-A c.495G>T p.E165D Missense 6/12 - 1
20-2641383-C-CTT c.490_491insAA p.R164Qfs*20 Frameshift 6/12 - 1
20-2641383-C-T c.491G>A p.R164Q Missense 6/12 - 2
20-2641384-G-A c.490C>T p.R164* Nonsense 6/12 - 3
20-2641388-G-A c.486C>T p.I162= Synonymous 6/12 - 1
20-2641391-C-A c.483G>T p.V161= Synonymous 6/12 - 1
20-2641399-C-G c.475G>C p.D159H Missense 6/12 - 1
20-2641408-T-A c.466A>T p.N156Y Missense 6/12 - 1
20-2641413-C-A c.461G>T p.R154L Missense 6/12 - 2
20-2641426-C-G c.448G>C p.G150R Missense 6/12 - 1
20-2641426-C-T c.448G>A p.G150R Missense 6/12 - 1
20-2641434-G-A c.440C>T p.S147L Missense 6/12 - 1
20-2641436-C-T c.438G>A p.K146= Synonymous 6/12 - 1
20-2641438-T-G c.436A>C p.K146Q Missense 6/12 - 1
20-2641442-A-G c.432T>C p.H144= Synonymous 6/12 - 1
20-2641444-G-A c.430C>T p.H144Y Missense 6/12 - 1
20-2641446-A-G c.428T>C p.V143A Missense 6/12 - 1
20-2641447-C-T c.427G>A p.V143I Missense 6/12 - 1
20-2641453-T-A c.421A>T p.N141Y Missense 6/12 - 1
20-2641453-T-C c.421A>G p.N141D Missense 6/12 - 1
20-2641457-A-C c.417T>G p.F139L Missense 6/12 - 1
20-2641457-A-T c.417T>A p.F139L Missense 6/12 - 1
20-2641459-A-G c.415T>C p.F139L Missense 6/12 - 1
20-2641465-C-T c.409G>A p.D137N Missense 6/12 - 2
20-2641469-C-T c.405G>A p.K135= Synonymous 6/12 - 1
20-2641472-ACG-CCA c.400_402delinsTGG p.R134W Missense 6/12 - 1
20-2641473-C-T c.401G>A p.R134H Missense 6/12 - 1
20-2641474-G-A c.400C>T p.R134C Missense 6/12 - 2
20-2641474-G-C c.400C>G p.R134G Missense 6/12 - 1
20-2641558-A-G c.395T>C p.L132P Missense 5/12 - 3
20-2641561-C-A c.392G>T p.R131L Missense 5/12 - 2
20-2641561-C-T c.392G>A p.R131Q Missense 5/12 - 1
20-2641562-G-A c.391C>T p.R131W Missense 5/12 - 5
20-2641568-C-T c.385G>A p.D129N Missense 5/12 - 1
20-2641573-G-A c.380C>T p.S127F Missense 5/12 - 4
20-2641576-G-A c.377C>T p.A126V Missense 5/12 - 1
20-2641578-TAG-AAA c.373_375delinsTTT p.L125F Missense 5/12 - 1
20-2641580-G-T c.373C>A p.L125I Missense 5/12 - 1
20-2641587-C-G c.366G>C p.K122N Missense 5/12 - 1
20-2641588-T-C c.365A>G p.K122R Missense 5/12 - 1
20-2641598-T-A c.355A>T p.M119L Missense 5/12 - 2
20-2641598-T-G c.355A>C p.M119L Missense 5/12 - 2
20-2641600-G-A c.353C>T p.P118L Missense 5/12 - 1
20-2641601-G-A c.352C>T p.P118S Missense 5/12 - 2
20-2641602-G-A c.351C>T p.T117= Synonymous 5/12 - 2
20-2641602-G-C c.351C>G p.T117= Synonymous 5/12 - 1
20-2641602-GG-CA c.350_351delinsTG p.T117M Missense 5/12 - 1
20-2641602-G-T c.351C>A p.T117= Synonymous 5/12 - 1
20-2641607-G-A c.346C>T p.H116Y Missense 5/12 - 1
20-2642376-C-G c.338-761G>C - IntronicSNV - 4/11 1
20-2642376-C-T c.338-761G>A - IntronicSNV - 4/11 1
20-2643824-G-A c.337+268C>T - IntronicSNV - 4/11 1
20-2643962-T-C c.337+130A>G - IntronicSNV - 4/11 1
20-2644050-T-C c.337+42A>G - IntronicSNV - 4/11 1
20-2644104-C-G c.325G>C p.V109L Missense 4/12 - 1
20-2644110-T-C c.319A>G p.N107D Missense 4/12 - 1
20-2644113-C-T c.316G>A p.E106K Missense 4/12 - 1
20-2644114-C-T c.315G>A p.K105= Synonymous 4/12 - 1
20-2644117-C-A c.312G>T p.M104I Missense 4/12 - 1
20-2644117-C-G c.312G>C p.M104I Missense 4/12 - 1
20-2644117-C-T c.312G>A p.M104I Missense 4/12 - 1
20-2644121-G-A c.308C>T p.S103F Missense 4/12 - 1
20-2644121-G-T c.308C>A p.S103Y Missense 4/12 - 1
20-2644130-A-G c.299T>C p.V100A Missense 4/12 - 1
20-2644137-C-G c.292G>C p.E98Q Missense 4/12 - 1
20-2644149-C-T c.280G>A p.E94K Missense 4/12 - 1
20-2644151-G-A c.278C>T p.S93F Missense 4/12 - 1
20-2644153-TGC-ATG c.274_276delinsCAT p.A92H Missense 4/12 - 1
20-2644156-C-T c.273G>A p.M91I Missense 4/12 - 1
20-2644157-A-G c.272T>C p.M91T Missense 4/12 - 1
20-2644158-T-G c.271A>C p.M91L Missense 4/12 - 1
20-2644159-A-G c.270T>C p.N90= Synonymous 4/12 - 2
20-2644164-G-A c.265C>T p.Q89* Nonsense 4/12 - 1
20-2644166-A-G c.263T>C p.V88A Missense 4/12 - 1
20-2644170-C-T c.259G>A p.E87K Missense 4/12 - 1
20-2644173-T-A c.256A>T p.S86C Missense 4/12 - 1
20-2644175-A-C c.254T>G p.L85R Missense 4/12 - 1
20-2644176-G-C c.253C>G p.L85V Missense 4/12 - 1
20-2644177-G-A c.252C>T p.H84= Synonymous 4/12 - 1
20-2644183-C-G c.246G>C p.E82D Missense 4/12 - 1
20-2644183-C-T c.246G>A p.E82= Synonymous 4/12 - 1
20-2644185-C-A c.244G>T p.E82* Nonsense 4/12 - 1
20-2644188-G-A c.241C>T p.Q81* Nonsense 4/12 - 2
20-2644188-TGGA-T c.239_241del p.F80_Q81delins* MultiAAMissense 4/12 - 1
20-2644205-G-A c.224C>T p.A75V Missense 4/12 - 2
20-2644205-GC-AT c.223_224delinsAT p.A75I Missense 4/12 - 1
20-2644209-C-G c.220G>C p.A74P Missense 4/12 - 1
20-2644211-G-C c.218C>G p.A73G Missense 4/12 - 1
20-2644212-C-G c.217G>C p.A73P Missense 4/12 - 1
20-2644212-C-T c.217G>A p.A73T Missense 4/12 - 1
20-2644299-C-T c.216+7G>A - IntronicSNV - 3/11 1
20-2644303-C-G c.216+3G>C - IntronicSNV - 3/11 1
20-2644306-C-T c.216G>A p.K72= Synonymous 3/12 - 1
20-2644308-T-G c.214A>C p.K72Q Missense 3/12 - 1
20-2644309-G-C c.213C>G p.F71L Missense 3/12 - 1
20-2644319-T-C c.203A>G p.K68R Missense 3/12 - 1
20-2644326-C-T c.196G>A p.A66T Missense 3/12 - 1
20-2644327-G-T c.195C>A p.H65Q Missense 3/12 - 1
20-2644332-T-G c.190A>C p.M64L Missense 3/12 - 1
20-2644338-C-A c.184G>T p.E62* Nonsense 3/12 - 3
20-2644347-C-A c.175G>T p.V59L Missense 3/12 - 8
20-2644347-C-G c.175G>C p.V59L Missense 3/12 - 4
20-2644352-T-G c.170A>C p.D57A Missense 3/12 - 1
20-2644355-C-T c.167G>A p.G56E Missense 3/12 - 2
20-2644359-G-A c.163C>T p.P55S Missense 3/12 - 1
20-2644361-A-G c.161T>C p.L54P Missense 3/12 - 1
20-2644369-C-A c.153G>T p.V51= Synonymous 3/12 - 1
20-2644370-A-G c.152T>C p.V51A Missense 3/12 - 1
20-2644372-G-A c.150C>T p.P50= Synonymous 3/12 - 1
20-2644373-G-A c.149C>T p.P50L Missense 3/12 - 3
20-2644375-A-G c.147T>C p.F49= Synonymous 3/12 - 1
20-2644379-G-A c.143C>T p.S48F Missense 3/12 - 1
20-2644379-G-C c.143C>G p.S48C Missense 3/12 - 1
20-2644380-A-G c.142T>C p.S48P Missense 3/12 - 1
20-2644381-G-A c.141C>T p.G47= Synonymous 3/12 - 1
20-2644381-G-C c.141C>G p.G47= Synonymous 3/12 - 1
20-2644381-G-T c.141C>A p.G47= Synonymous 3/12 - 1
20-2644383-C-A c.139G>T p.G47C Missense 3/12 - 1
20-2644385-T-C c.137A>G p.E46G Missense 3/12 - 1
20-2644389-C-A c.133G>T p.V45L Missense 3/12 - 1
20-2644389-C-G c.133G>C p.V45L Missense 3/12 - 1
20-2644390-C-T c.132G>A p.R44= Synonymous 3/12 - 1
20-2644392-T-G c.130A>C p.R44= Synonymous 3/12 - 1
20-2644391-C-T c.131G>A p.R44K Missense 3/12 - 1
20-2644392-T-C c.130A>G p.R44G Missense 3/12 - 1
20-2644394-A-G c.128T>C p.V43A Missense 3/12 - 1
20-2644395-C-A c.127G>T p.V43L Missense 3/12 - 1
20-2644397-T-G c.125A>C p.D42A Missense 3/12 - 1
20-2644400-T-C c.122A>G p.E41G Missense 3/12 - 3
20-2644403-G-A c.119C>T p.A40V Missense 3/12 - 1
20-2644403-G-T c.119C>A p.A40D Missense 3/12 - 1
20-2644407-C-G c.118-3G>C - IntronicSNV - 2/11 21
20-2644451-AGCACGGATCCTGGGAGTAGAGAAGTAGGGAGACCCGGGAGGGGTGGGGAAAAGCCAGGG-A c.117+61_118-48del - IntronicDeletion - 2/11 1
20-2644565-G-T c.117+6C>A - IntronicSNV - 2/11 1
20-2644569-A-G c.117+2T>C - IntronicSNV - 2/11 1
20-2644572-T-C c.116A>G p.Q39R Missense 2/12 - 1
20-2644577-CC-AT c.110_111delinsAT p.R37H Missense 2/12 - 1
20-2644581-G-A c.107C>T p.S36L Missense 2/12 - 1
20-2644581-G-C c.107C>G p.S36W Missense 2/12 - 4
20-2644584-G-A c.104C>T p.A35V Missense 2/12 - 1
20-2644588-C-A c.100G>T p.A34S Missense 2/12 - 1
20-2644589-G-T c.99C>A p.H33Q Missense 2/12 - 1
20-2644592-CGC-GAT c.94_96delinsATC p.A32I Missense 2/12 - 1
20-2644594-C-T c.94G>A p.A32T Missense 2/12 - 1
20-2644597-C-T c.91G>A p.A31T Missense 2/12 - 1
20-2644598-G-A c.90C>T p.A30= Synonymous 2/12 - 1
20-2644598-G-C c.90C>G p.A30= Synonymous 2/12 - 1
20-2644598-G-T c.90C>A p.A30= Synonymous 2/12 - 1
20-2644599-G-T c.89C>A p.A30D Missense 2/12 - 1
20-2644605-G-T c.83C>A p.T28N Missense 2/12 - 1
20-2644614-C-T c.74G>A p.G25D Missense 2/12 - 1
20-2644615-C-T c.73G>A p.G25S Missense 2/12 - 1
20-2644620-C-A c.68G>T p.W23L Missense 2/12 - 1
20-2644624-C-G c.64G>C p.A22P Missense 2/12 - 1
20-2644629-G-A c.59C>T p.P20L Missense 2/12 - 5
20-2644628-AG-A c.59del p.P20Lfs*7 Frameshift 2/12 - 1
20-2644631-G-C c.57C>G p.N19K Missense 2/12 - 1
20-2644632-T-G c.56A>C p.N19T Missense 2/12 - 1
20-2644633-T-TA c.54_55insT p.N19* Nonsense 2/12 - 2
20-2644634-C-A c.54G>T p.G18= Synonymous 2/12 - 3
20-2644634-C-G c.54G>C p.G18= Synonymous 2/12 - 1
20-2644634-C-T c.54G>A p.G18= Synonymous 2/12 - 1
20-2644633-TC-T c.54del p.N19Tfs*8 Frameshift 2/12 - 2
20-2644637-GGC-TTA c.49_51delinsTAA p.A17* Nonsense 2/12 - 3
20-2644637-GGC-TTG c.49_51delinsCAA p.A17Q Missense 2/12 - 2
20-2644641-G-A c.47C>T p.S16F Missense 2/12 - 5
20-2644642-A-T c.46T>A p.S16T Missense 2/12 - 3
20-2644646-C-A c.42G>T p.L14= Synonymous 2/12 - 1
20-2644648-G-A c.40C>T p.L14= Synonymous 2/12 - 1
20-2644650-GC-AG c.37_38delinsCT p.A13L Missense 2/12 - 1
20-2644651-C-A c.37G>T p.A13S Missense 2/12 - 1
20-2644685-C-A c.37-34G>T - IntronicSNV - 1/11 7
20-2644685-C-T c.37-34G>A - IntronicSNV - 1/11 7
20-2644799-TC-AT c.35_36delinsAT p.R12H Missense 1/12 - 1
20-2644799-T-A c.36A>T p.R12= Synonymous 1/12 - 1
20-2644799-T-C c.36A>G p.R12= Synonymous 1/12 - 1
20-2644799-T-G c.36A>C p.R12= Synonymous 1/12 - 1
20-2644801-G-A c.34C>T p.R12* Nonsense 1/12 - 1
20-2644801-G-T c.34C>A p.R12= Synonymous 1/12 - 1
20-2644805-C-A c.30G>T p.L10= Synonymous 1/12 - 1
20-2644810-A-G c.25T>C p.W9R Missense 1/12 - 1
20-2644810-A-T c.25T>A p.W9R Missense 1/12 - 1
20-2644813-G-A c.22C>T p.R8C Missense 1/12 - 2
20-2644816-C-A c.19G>T p.V7F Missense 1/12 - 1
20-2644816-C-G c.19G>C p.V7L Missense 1/12 - 1
20-2644816-C-T c.19G>A p.V7I Missense 1/12 - 1
20-2644817-T-C c.18A>G p.G6= Synonymous 1/12 - 1
20-2644823-C-A c.12G>T p.L4F Missense 1/12 - 1
20-2644827-G-A c.8C>T p.A3V Missense 1/12 - 2
20-2644828-C-T c.7G>A p.A3T Missense 1/12 - 1
20-2644829-C-A c.6G>T p.A2= Synonymous 1/12 - 2
20-2644829-C-G c.6G>C p.A2= Synonymous 1/12 - 2
20-2644829-C-T c.6G>A p.A2= Synonymous 1/12 - 3