ADA adenosine deaminase

Canonical transcript: NM_000022

462 unique variant annotations were identified in 230 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
20-43248479-A-G c.1088T>C p.Leu363Pro Missense 12/12 - 1
20-43248503-A-T c.1079-15T>A - IntronicSNV - 11/11 1
20-43248841-G-A c.1078+99C>T - IntronicSNV - 11/11 1
20-43248853-T-C c.1078+87A>G - IntronicSNV - 11/11 1
20-43248938-A-T c.1078+2T>A - IntronicSNV - 11/11 1
20-43248943-C-T c.1075G>A p.Ala359Thr Missense 11/12 - 1
20-43248948-G-C c.1070C>G p.Ala357Gly Missense 11/12 - 1
20-43248949-C-T c.1069G>A p.Ala357Thr Missense 11/12 - 1
20-43248955-G-T c.1063C>A p.Pro355Thr Missense 11/12 - 1
20-43248957-G-A c.1061C>T p.Pro354Leu Missense 11/12 - 1
20-43248958-G-A c.1060C>T p.Pro354Ser Missense 11/12 - 1
20-43248970-C-A c.1048G>T p.Ala350Ser Missense 11/12 - 1
20-43248970-C-T c.1048G>A p.Ala350Thr Missense 11/12 - 1
20-43248975-T-C c.1043A>G p.Tyr348Cys Missense 11/12 - 1
20-43248976-A-G c.1042T>C p.Tyr348His Missense 11/12 - 1
20-43248982-G-T c.1036C>A p.Leu346Met Missense 11/12 - 1
20-43248983-G-T c.1035C>A p.Asp345Glu Missense 11/12 - 1
20-43248985-C-A c.1033G>T p.Asp345Tyr Missense 11/12 - 1
20-43248985-C-T c.1033G>A p.Asp345Asn Missense 11/12 - 1
20-43248990-A-G c.1028T>C p.Leu343Pro Missense 11/12 - 1
20-43248991-G-C c.1027C>G p.Leu343Val Missense 11/12 - 1
20-43248996-C-A c.1022G>T p.Arg341Met Missense 11/12 - 1
20-43249000-T-C c.1018A>G p.Lys340Glu Missense 11/12 - 1
20-43249001-TTT-T c.1018_1019del p.Lys340Glufs*9 Frameshift 11/12 - 1
20-43249002-T-C c.1016A>G p.Glu339Gly Missense 11/12 - 1
20-43249006-C-T c.1012G>A p.Asp338Asn Missense 11/12 - 1
20-43249008-TTCT-T c.1011_1013del p.Glu337del InFrameDeletion 11/12 - 2
20-43249011-G-T c.1007C>A p.Pro336Gln Missense 11/12 - 1
20-43249012-G-A c.1006C>T p.Pro336Ser Missense 11/12 - 1
20-43249021-T-C c.997A>G p.Ser333Gly Missense 11/12 - 1
20-43249026-T-G c.992A>C p.Lys331Thr Missense 11/12 - 1
20-43249029-G-A c.989C>T p.Ala330Val Missense 11/12 - 1
20-43249030-C-T c.988G>A p.Ala330Thr Missense 11/12 - 1
20-43249032-G-A c.986C>T p.Ala329Val Missense 11/12 - 2
20-43249034-A-T c.984T>A p.Asn328Lys Missense 11/12 - 2
20-43249035-T-C c.983A>G p.Asn328Ser Missense 11/12 - 1
20-43249036-T-G c.982A>C p.Asn328His Missense 11/12 - 1
20-43249038-A-G c.980T>C p.Ile327Thr Missense 11/12 - 1
20-43249039-T-C c.979A>G p.Ile327Val Missense 11/12 - 1
20-43249042-T-C c.976A>G p.Asn326Asp Missense 11/12 - 1
20-43249591-C-T c.975+68G>A - IntronicSNV - 10/11 3
20-43249663-C-T c.971G>A p.Arg324Lys Missense 10/12 - 1
20-43249670-A-G c.964T>C p.Phe322Leu Missense 10/12 - 1
20-43249675-CTCTTC-C c.956_960del p.Glu319Glyfs*3 Frameshift 10/12 - 3
20-43249676-C-T c.958G>A p.Glu320Lys Missense 10/12 - 2
20-43249678-T-G c.956A>C p.Glu319Ala Missense 10/12 - 1
20-43249681-G-C c.953C>G p.Thr318Ser Missense 10/12 - 1
20-43249683-AA-GG c.950_951delinsCC p.Phe317Ser Missense 10/12 - 1
20-43249684-AA-CG c.949_950delinsCG p.Phe317Arg Missense 10/12 - 1
20-43249684-AA-GC c.949_950delinsGC p.Phe317Ala Missense 10/12 - 3
20-43249683-A-C c.951T>G p.Phe317Leu Missense 10/12 - 1
20-43249683-A-T c.951T>A p.Phe317Leu Missense 10/12 - 1
20-43249685-A-G c.949T>C p.Phe317Leu Missense 10/12 - 1
20-43249688-C-T c.946G>A p.Gly316Ser Missense 10/12 - 1
20-43249689-C-T c.945G>A p.Met315Ile Missense 10/12 - 1
20-43249690-A-G c.944T>C p.Met315Thr Missense 10/12 - 1
20-43249693-T-C c.941A>G p.Asp314Gly Missense 10/12 - 2
20-43249694-C-A c.940G>T p.Asp314Tyr Missense 10/12 - 1
20-43249696-C-T c.938G>A p.Arg313Gln Missense 10/12 - 1
20-43249697-G-A c.937C>T p.Arg313Trp Missense 10/12 - 2
20-43249697-G-T c.937C>A p.Arg313Arg Synonymous 10/12 - 1
20-43249699-T-C c.935A>G p.Lys312Arg Missense 10/12 - 1
20-43249700-T-G c.934A>C p.Lys312Gln Missense 10/12 - 1
20-43249702-G-A c.932C>T p.Thr311Ile Missense 10/12 - 1
20-43249704-C-T c.930G>A p.Met310Ile Missense 10/12 - 1
20-43249706-T-C c.928A>G p.Met310Val Missense 10/12 - 1
20-43249708-T-C c.926A>G p.Gln309Arg Missense 10/12 - 1
20-43249711-T-G c.923A>C p.Tyr308Ser Missense 10/12 - 1
20-43249715-C-G c.919G>C p.Asp307His Missense 10/12 - 1
20-43249721-C-T c.913G>A p.Asp305Asn Missense 10/12 - 1
20-43249723-A-C c.911T>G p.Leu304Arg Missense 10/12 - 1
20-43249723-A-G c.911T>C p.Leu304Pro Missense 10/12 - 1
20-43249724-G-A c.910C>T p.Leu304Leu Synonymous 10/12 - 1
20-43249727-T-C c.907A>G p.Thr303Ala Missense 10/12 - 3
20-43249732-T-C c.902A>G p.Lys301Arg Missense 10/12 - 1
20-43249735-A-C c.899T>G p.Phe300Cys Missense 10/12 - 1
20-43249734-G-C c.900C>G p.Phe300Leu Missense 10/12 - 1
20-43249736-A-G c.898T>C p.Phe300Leu Missense 10/12 - 1
20-43249738-A-G c.896T>C p.Ile299Thr Missense 10/12 - 1
20-43249739-T-C c.895A>G p.Ile299Val Missense 10/12 - 1
20-43249741-A-G c.893T>C p.Leu298Pro Missense 10/12 - 1
20-43249748-C-T c.886G>A p.Asp296Asn Missense 10/12 - 1
20-43249753-G-T c.881C>A p.Thr294Lys Missense 10/12 - 2
20-43249762-G-A c.872C>T p.Ser291Leu Missense 10/12 - 7
20-43249762-G-C c.872C>G p.Ser291Trp Missense 10/12 - 1
20-43249765-T-C c.869A>G p.Tyr290Cys Missense 10/12 - 1
20-43249768-T-C c.866A>G p.Asn289Ser Missense 10/12 - 1
20-43249769-T-A c.865A>T p.Asn289Tyr Missense 10/12 - 2
20-43249771-G-A c.863C>T p.Ala288Val Missense 10/12 - 1
20-43249776-G-T c.858C>A p.Asp286Glu Missense 10/12 - 1
20-43249781-T-A c.853A>T p.Asn285Tyr Missense 10/12 - 1
20-43249783-T-C c.851A>G p.Lys284Arg Missense 10/12 - 1
20-43250722-G-A c.845+507C>T - IntronicSNV - 9/11 1
20-43251229-C-A c.845G>T p.Arg282Leu Missense 9/12 - 2
20-43251229-C-T c.845G>A p.Arg282Gln Missense 9/12 - 3
20-43251230-G-A c.844C>T p.Arg282Trp Missense 9/12 - 1
20-43251241-T-C c.833A>G p.His278Arg Missense 9/12 - 1
20-43251243-C-A c.831G>T p.Glu277Asp Missense 9/12 - 1
20-43251244-T-G c.830A>C p.Glu277Ala Missense 9/12 - 1
20-43251247-G-A c.827C>T p.Thr276Met Missense 9/12 - 1
20-43251248-T-G c.826A>C p.Thr276Pro Missense 9/12 - 1
20-43251249-G-C c.825C>G p.Asp275Glu Missense 9/12 - 1
20-43251253-G-A c.821C>T p.Pro274Leu Missense 9/12 - 1
20-43251257-T-C c.817A>G p.Lys273Glu Missense 9/12 - 1
20-43251259-C-T c.815G>A p.Trp272* Nonsense 9/12 - 2
20-43251274-T-A c.800A>T p.Tyr267Phe Missense 9/12 - 1
20-43251274-T-G c.800A>C p.Tyr267Ser Missense 9/12 - 1
20-43251275-A-G c.799T>C p.Tyr267His Missense 9/12 - 1
20-43251279-GG-AA c.794_795delinsTT p.Ser265Phe Nonsense 9/12 - 1
20-43251280-G-C c.794C>G p.Ser265Cys Missense 9/12 - 1
20-43251281-A-G c.793T>C p.Ser265Pro Missense 9/12 - 1
20-43251282-CC-TT c.791_792delinsAA p.Trp264* Missense 9/12 - 1
20-43251283-C-G c.791G>C p.Trp264Ser Missense 9/12 - 1
20-43251289-C-T c.785G>A p.Cys262Tyr Missense 9/12 - 1
20-43251472-C-T c.778G>A p.Glu260Lys Missense 8/12 - 1
20-43251478-G-A c.772C>T p.His258Tyr Missense 8/12 - 1
20-43251479-C-T c.771G>A p.Met257Ile Missense 8/12 - 2
20-43251480-A-G c.770T>C p.Met257Thr Missense 8/12 - 1
20-43251485-T-A c.765A>T p.Glu255Asp Missense 8/12 - 1
20-43251486-TC-AG c.763_764delinsCT p.Glu255Leu Missense 8/12 - 1
20-43251492-C-T c.758G>A p.Arg253Gln Missense 8/12 - 1
20-43251493-G-A c.757C>T p.Arg253Trp Missense 8/12 - 1
20-43251494-C-A c.756G>T p.Leu252Leu Synonymous 8/12 - 1
20-43251494-C-G c.756G>C p.Leu252Leu Synonymous 8/12 - 1
20-43251494-C-T c.756G>A p.Leu252Leu Synonymous 8/12 - 1
20-43251496-G-A c.754C>T p.Leu252Leu Synonymous 8/12 - 1
20-43251497-C-G c.753G>C p.Arg251Ser Missense 8/12 - 1
20-43251499-T-A c.751A>T p.Arg251Trp Missense 8/12 - 1
20-43251500-GT-GG c.749delinsC p.Asn250Thr Missense 8/12 - 1
20-43251501-T-C c.749A>G p.Asn250Ser Missense 8/12 - 1
20-43251501-TT-GC c.748_749delinsGC p.Asn250Ala Missense 8/12 - 1
20-43251502-T-C c.748A>G p.Asn250Asp Missense 8/12 - 1
20-43251504-T-C c.746A>G p.Tyr249Cys Missense 8/12 - 1
20-43251511-C-T c.739G>A p.Ala247Thr Missense 8/12 - 1
20-43251514-G-A c.736C>T p.Gln246* Nonsense 8/12 - 1
20-43251517-C-A c.733G>T p.Asp245Tyr Missense 8/12 - 1
20-43251517-C-T c.733G>A p.Asp245Asn Missense 8/12 - 1
20-43251522-A-G c.728T>C p.Leu243Pro Missense 8/12 - 1
20-43251526-T-C c.724A>G p.Thr242Ala Missense 8/12 - 1
20-43251531-T-C c.719A>G p.Tyr240Cys Missense 8/12 - 1
20-43251534-C-G c.716G>C p.Gly239Ala Missense 8/12 - 1
20-43251534-C-T c.716G>A p.Gly239Asp Missense 8/12 - 3
20-43251535-C-T c.715G>A p.Gly239Ser Missense 8/12 - 1
20-43251540-C-G c.710G>C p.Gly237Ala Missense 8/12 - 1
20-43251543-AG-TC c.706_707delinsGA p.Leu236Glu Missense 8/12 - 1
20-43251546-C-A c.704G>T p.Arg235Leu Missense 8/12 - 1
20-43251546-C-T c.704G>A p.Arg235Gln Missense 8/12 - 3
20-43251547-G-A c.703C>T p.Arg235Trp Missense 8/12 - 3
20-43251552-G-A c.698C>T p.Thr233Ile Missense 8/12 - 1
20-43251555-T-C c.695A>G p.Lys232Arg Missense 8/12 - 1
20-43251559-G-A c.691C>T p.Leu231Phe Missense 8/12 - 1
20-43251562-T-C c.688A>G p.Ile230Val Missense 8/12 - 2
20-43251562-T-G c.688A>C p.Ile230Leu Missense 8/12 - 1
20-43251563-G-T c.687C>A p.Asp229Glu Missense 8/12 - 1
20-43251564-T-C c.686A>G p.Asp229Gly Missense 8/12 - 1
20-43251565-C-G c.685G>C p.Asp229His Missense 8/12 - 1
20-43251565-C-T c.685G>A p.Asp229Asn Missense 8/12 - 1
20-43251567-A-G c.683T>C p.Val228Ala Missense 8/12 - 1
20-43251570-GC-TT c.679_680delinsAA p.Ala227Asn Missense 8/12 - 1
20-43251655-A-G c.671T>C p.Val224Ala Missense 7/12 - 1
20-43251656-C-T c.670G>A p.Val224Ile Missense 7/12 - 1
20-43251662-C-T c.664G>A p.Glu222Lys Missense 7/12 - 1
20-43251664-G-GAAGGG c.663_664insCTTCC p.Glu222Leufs*4 Frameshift 7/12 - 1
20-43251665-C-T c.661G>A p.Ala221Thr Missense 7/12 - 2
20-43251667-G-A c.659C>T p.Ser220Leu Missense 7/12 - 1
20-43251676-T-C c.650A>G p.Glu217Gly Missense 7/12 - 1
20-43251677-C-T c.649G>A p.Glu217Lys Missense 7/12 - 2
20-43251680-C-T c.646G>A p.Gly216Arg Missense 7/12 - 10
20-43251683-C-T c.643G>A p.Ala215Thr Missense 7/12 - 2
20-43251691-G-C c.635C>G p.Thr212Ser Missense 7/12 - 1
20-43251694-C-T c.632G>A p.Arg211His Missense 7/12 - 7
20-43251695-G-A c.631C>T p.Arg211Cys Missense 7/12 - 1
20-43251697-T-C c.629A>G p.His210Arg Missense 7/12 - 1
20-43251698-G-A c.628C>T p.His210Tyr Missense 7/12 - 1
20-43251708-C-A c.618G>T p.Lys206Asn Missense 7/12 - 1
20-43251709-T-C c.617A>G p.Lys206Arg Missense 7/12 - 1
20-43251711-TCAC-T c.613_615del p.Val205del InFrameDeletion 7/12 - 1
20-43251715-G-T c.611C>A p.Ala204Asp Missense 7/12 - 4
20-43251717-C-A c.609G>T p.Glu203Asp Missense 7/12 - 1
20-43251718-T-G c.608A>C p.Glu203Ala Missense 7/12 - 1
20-43252846-G-C c.603C>G p.Tyr201* Nonsense 6/12 - 1
20-43252846-G-T c.603C>A p.Tyr201* Nonsense 6/12 - 1
20-43252853-T-C c.596A>G p.Gln199Arg Missense 6/12 - 1
20-43252853-T-G c.596A>C p.Gln199Pro Missense 6/12 - 2
20-43252858-A-G c.591T>C p.His197His Synonymous 6/12 - 1
20-43252858-A-T c.591T>A p.His197Gln Missense 6/12 - 2
20-43252861-TCC-TGG c.586_587delinsCC p.Gly196Pro Missense 6/12 - 1
20-43252862-C-T c.587G>A p.Gly196Glu Missense 6/12 - 1
20-43252863-C-T c.586G>A p.Gly196Arg Missense 6/12 - 1
20-43252865-G-C c.584C>G p.Pro195Arg Missense 6/12 - 1
20-43252870-G-A c.579C>T p.Leu193Leu Synonymous 6/12 - 1
20-43252870-G-C c.579C>G p.Leu193Leu Synonymous 6/12 - 1
20-43252870-G-T c.579C>A p.Leu193Leu Synonymous 6/12 - 1
20-43252871-A-T c.578T>A p.Leu193His Missense 6/12 - 1
20-43252874-C-T c.575G>A p.Ser192Asn Missense 6/12 - 1
20-43252875-T-C c.574A>G p.Ser192Gly Missense 6/12 - 2
20-43252879-TCC-AGC c.569_570delinsCT p.Gly190Ala Missense 6/12 - 1
20-43252880-CC-CA c.568delinsT p.Gly190* Missense 6/12 - 1
20-43252880-C-G c.569G>C p.Gly190Ala Missense 6/12 - 5
20-43252880-C-T c.569G>A p.Gly190Glu Missense 6/12 - 1
20-43252888-G-A c.561C>T p.Thr187Thr Synonymous 6/12 - 1
20-43252895-T-G c.554A>C p.Asp185Ala Missense 6/12 - 3
20-43252896-C-T c.553G>A p.Asp185Asn Missense 6/12 - 3
20-43252901-G-T c.548C>A p.Ala183Asp Missense 6/12 - 1
20-43252904-A-G c.545T>C p.Leu182Pro Missense 6/12 - 1
20-43252910-A-G c.539T>C p.Ile180Thr Missense 6/12 - 1
20-43252915-T-A c.534A>T p.Val178Val Synonymous 6/12 - 1
20-43252915-T-C c.534A>G p.Val178Val Synonymous 6/12 - 5
20-43252915-T-G c.534A>C p.Val178Val Synonymous 6/12 - 1
20-43252916-A-G c.533T>C p.Val178Ala Missense 6/12 - 1
20-43252917-C-A c.532G>T p.Val178Leu Missense 6/12 - 1
20-43252917-C-T c.532G>A p.Val178Ile Missense 6/12 - 1
20-43252920-C-T c.529G>A p.Val177Met Missense 6/12 - 3
20-43252926-G-A c.523C>T p.Gln175* Nonsense 6/12 - 1
20-43252931-T-C c.518A>G p.Gln173Arg Missense 6/12 - 1
20-43252934-T-C c.515A>G p.Tyr172Cys Missense 6/12 - 1
20-43252935-A-G c.514T>C p.Tyr172His Missense 6/12 - 1
20-43252936-C-G c.513G>C p.Lys171Asn Missense 6/12 - 1
20-43252941-T-C c.508A>G p.Lys170Glu Missense 6/12 - 1
20-43252941-T-G c.508A>C p.Lys170Gln Missense 6/12 - 1
20-43252942-A-C c.507T>G p.Cys169Trp Missense 6/12 - 1
20-43252943-C-T c.506G>A p.Cys169Tyr Missense 6/12 - 2
20-43252946-A-G c.503T>C p.Leu168Pro Missense 6/12 - 1
20-43252950-C-T c.499G>A p.Glu167Lys Missense 6/12 - 2
20-43252956-C-T c.493G>A p.Val165Met Missense 6/12 - 1
20-43252964-G-C c.485C>G p.Ser162Cys Missense 6/12 - 1
20-43252966-C-T c.483G>A p.Trp161* Nonsense 6/12 - 1
20-43252967-C-T c.482G>A p.Trp161* Nonsense 6/12 - 1
20-43252969-G-C c.480C>G p.Asn160Lys Missense 6/12 - 6
20-43252969-G-T c.480C>A p.Asn160Lys Missense 6/12 - 6
20-43253131-C-T c.479-161G>A - IntronicSNV - 5/11 1
20-43254204-A-G c.478+6T>C - IntronicSNV - 5/11 1
20-43254213-G-A c.475C>T p.Pro159Ser Missense 5/12 - 1
20-43254214-C-A c.474G>T p.Gln158His Missense 5/12 - 1
20-43254221-C-G c.467G>C p.Arg156Pro Missense 5/12 - 1
20-43254221-C-T c.467G>A p.Arg156His Missense 5/12 - 4
20-43254222-G-A c.466C>T p.Arg156Cys Missense 5/12 - 3
20-43254228-A-G c.460T>C p.Cys154Arg Missense 5/12 - 1
20-43254230-C-A c.458G>T p.Cys153Phe Missense 5/12 - 1
20-43254233-A-G c.455T>C p.Leu152Pro Missense 5/12 - 1
20-43254234-G-C c.454C>G p.Leu152Val Missense 5/12 - 1
20-43254234-G-T c.454C>A p.Leu152Met Missense 5/12 - 2
20-43254236-A-G c.452T>C p.Ile151Thr Missense 5/12 - 1
20-43254239-GA-CT c.448_449delinsAG p.Ser150Ser Missense 5/12 - 1
20-43254242-C-T c.446G>A p.Arg149Gln Missense 5/12 - 2
20-43254243-G-A c.445C>T p.Arg149Trp Missense 5/12 - 2
20-43254243-G-C c.445C>G p.Arg149Gly Missense 5/12 - 1
20-43254246-C-A c.442G>T p.Ala148Ser Missense 5/12 - 1
20-43254254-C-T c.434G>A p.Gly145Glu Missense 5/12 - 1
20-43254260-T-TT c.428dup p.Asp143Glufs*28 Frameshift 5/12 - 1
20-43254261-C-A c.427G>T p.Asp143Tyr Missense 5/12 - 1
20-43254263-C-G c.425G>C p.Arg142Pro Missense 5/12 - 1
20-43254263-C-T c.425G>A p.Arg142Gln Missense 5/12 - 2
20-43254264-G-A c.424C>T p.Arg142* Nonsense 5/12 - 3
20-43254267-C-T c.421G>A p.Glu141Lys Missense 5/12 - 1
20-43254269-C-G c.419G>C p.Gly140Ala Missense 5/12 - 1
20-43254269-C-T c.419G>A p.Gly140Glu Missense 5/12 - 2
20-43254270-C-G c.418G>C p.Gly140Arg Missense 5/12 - 1
20-43254273-C-A c.415G>T p.Glu139* Nonsense 5/12 - 2
20-43254273-C-T c.415G>A p.Glu139Lys Missense 5/12 - 1
20-43254275-T-C c.413A>G p.Gln138Arg Missense 5/12 - 1
20-43254287-C-T c.401G>A p.Gly134Asp Missense 5/12 - 1
20-43254293-A-G c.395T>C p.Leu132Pro Missense 5/12 - 1
20-43254298-C-T c.390G>A p.Val130Val Synonymous 5/12 - 1
20-43254300-C-T c.388G>A p.Val130Met Missense 5/12 - 1
20-43254303-C-A c.385G>T p.Val129Leu Missense 5/12 - 2
20-43254303-C-T c.385G>A p.Val129Met Missense 5/12 - 6
20-43254305-T-C c.383A>G p.Glu128Gly Missense 5/12 - 1
20-43254306-C-G c.382G>C p.Glu128Gln Missense 5/12 - 1
20-43254306-C-T c.382G>A p.Glu128Lys Missense 5/12 - 1
20-43254307-G-T c.381C>A p.Asp127Glu Missense 5/12 - 1
20-43254308-T-G c.380A>C p.Asp127Ala Missense 5/12 - 1
20-43254309-C-T c.379G>A p.Asp127Asn Missense 5/12 - 1
20-43254311-G-T c.377C>A p.Pro126Gln Missense 5/12 - 3
20-43254312-G-A c.376C>T p.Pro126Ser Missense 5/12 - 1
20-43254314-G-A c.374C>T p.Thr125Ile Missense 5/12 - 1
20-43254314-G-C c.374C>G p.Thr125Ser Missense 5/12 - 1
20-43254318-G-T c.370C>A p.Leu124Ile Missense 5/12 - 1
20-43254320-TC-CC c.368delinsG p.Asp123Gly Missense 5/12 - 1
20-43254320-T-G c.368A>C p.Asp123Ala Missense 5/12 - 1
20-43254321-C-G c.367G>C p.Asp123His Missense 5/12 - 1
20-43254324-CC-C c.367del p.Asp123Thrfs*10 Frameshift 5/12 - 2
20-43254324-C-G c.364G>C p.Gly122Arg Missense 5/12 - 1
20-43254324-C-T c.364G>A p.Gly122Arg Missense 5/12 - 1
20-43255097-T-A c.362A>T p.Glu121Val Missense 4/12 - 1
20-43255097-T-C c.362A>G p.Glu121Gly Missense 4/12 - 2
20-43255104-G-T c.355C>A p.Gln119Lys Missense 4/12 - 1
20-43255106-T-G c.353A>C p.Asn118Thr Missense 4/12 - 1
20-43255107-T-C c.352A>G p.Asn118Asp Missense 4/12 - 1
20-43255109-C-T c.350G>A p.Trp117* Nonsense 4/12 - 1
20-43255118-G-T c.341C>A p.Pro114Gln Missense 4/12 - 1
20-43255122-C-T c.337G>A p.Glu113Lys Missense 4/12 - 1
20-43255124-A-G c.335T>C p.Val112Ala Missense 4/12 - 1
20-43255125-C-A c.334G>T p.Val112Leu Missense 4/12 - 1
20-43255131-A-C c.328T>G p.Ser110Ala Missense 4/12 - 1
20-43255132-G-T c.327C>A p.Asn109Lys Missense 4/12 - 1
20-43255133-T-C c.326A>G p.Asn109Ser Missense 4/12 - 1
20-43255134-T-C c.325A>G p.Asn109Asp Missense 4/12 - 1
20-43255139-A-G c.320T>C p.Leu107Pro Missense 4/12 - 8
20-43255143-G-C c.316C>G p.Leu106Val Missense 4/12 - 2
20-43255146-G-A c.313C>T p.His105Tyr Missense 4/12 - 1
20-43255148-G-A c.311C>T p.Pro104Leu Missense 4/12 - 1
20-43255149-G-T c.310C>A p.Pro104Thr Missense 4/12 - 1
20-43255155-A-G c.304T>C p.Tyr102His Missense 4/12 - 1
20-43255157-C-A c.302G>T p.Arg101Leu Missense 4/12 - 4
20-43255157-C-G c.302G>C p.Arg101Pro Missense 4/12 - 1
20-43255157-C-T c.302G>A p.Arg101Gln Missense 4/12 - 4
20-43255158-G-A c.301C>T p.Arg101Trp Missense 4/12 - 1
20-43255159-CAC-TGT c.298_300delinsACA p.Val100Thr Missense 4/12 - 1
20-43255162-C-G c.297G>C p.Glu99Asp Missense 4/12 - 1
20-43255167-C-T c.292G>A p.Val98Met Missense 4/12 - 1
20-43255172-A-G c.287T>C p.Val96Ala Missense 4/12 - 1
20-43255173-C-T c.286G>A p.Val96Met Missense 4/12 - 1
20-43255176-C-T c.283G>A p.Val95Met Missense 4/12 - 1
20-43255180-C-G c.279G>C p.Glu93Asp Missense 4/12 - 1
20-43255184-T-C c.275A>G p.Lys92Arg Missense 4/12 - 1
20-43255186-G-A c.273C>T p.Ala91Ala Synonymous 4/12 - 1
20-43255186-G-C c.273C>G p.Ala91Ala Synonymous 4/12 - 1
20-43255186-G-T c.273C>A p.Ala91Ala Synonymous 4/12 - 1
20-43255187-GC-TT c.271_272delinsAA p.Ala91Asn Missense 4/12 - 1
20-43255188-C-T c.271G>A p.Ala91Thr Missense 4/12 - 1
20-43255196-T-G c.263A>C p.Glu88Ala Missense 4/12 - 1
20-43255198-T-TT c.261dup p.Glu88Argfs*34 Frameshift 4/12 - 1
20-43255208-T-C c.251A>G p.Tyr84Cys Missense 4/12 - 2
20-43255211-G-T c.248C>A p.Ala83Asp Missense 4/12 - 4
20-43255214-A-T c.245T>A p.Ile82Asn Missense 4/12 - 1
20-43255217-C-A c.242G>T p.Arg81Met Missense 4/12 - 1
20-43255220-T-C c.239A>G p.Lys80Arg Missense 4/12 - 10
20-43255221-T-C c.238A>G p.Lys80Glu Missense 4/12 - 1
20-43255226-G-T c.233C>A p.Ala78Asp Missense 4/12 - 1
20-43255232-C-T c.227G>A p.Arg76Gln Missense 4/12 - 1
20-43255233-G-A c.226C>T p.Arg76Trp Missense 4/12 - 6
20-43255238-C-A c.221G>T p.Gly74Val Missense 4/12 - 3
20-43255238-C-T c.221G>A p.Gly74Asp Missense 4/12 - 2
20-43255239-C-A c.220G>T p.Gly74Cys Missense 4/12 - 3
20-43255242-T-C c.219-2A>G - IntronicSNV - 3/11 1
20-43257406-C-T c.218+282G>A - IntronicSNV - 3/11 2
20-43257688-G-A c.218C>T p.Ala73Val Missense 3/12 - 1
20-43257689-C-T c.217G>A p.Ala73Thr Missense 3/12 - 1
20-43257692-T-A c.214A>T p.Ile72Phe Missense 3/12 - 1
20-43257692-T-C c.214A>G p.Ile72Val Missense 3/12 - 1
20-43257694-G-A c.212C>T p.Ala71Val Missense 3/12 - 2
20-43257695-C-T c.211G>A p.Ala71Thr Missense 3/12 - 1
20-43257709-T-A c.197A>T p.Asp66Val Missense 3/12 - 1
20-43257714-C-T c.192G>A p.Lys64Lys Synonymous 3/12 - 1
20-43257716-T-G c.190A>C p.Lys64Gln Missense 3/12 - 1
20-43257718-GC-TG c.187_188delinsCA p.Ala63His Missense 3/12 - 1
20-43257723-GAA-GAG c.181delinsC p.Phe61Leu Missense 3/12 - 1
20-43257724-A-C c.182T>G p.Phe61Cys Missense 3/12 - 1
20-43257726-G-C c.180C>G p.Asp60Glu Missense 3/12 - 1
20-43257726-G-T c.180C>A p.Asp60Glu Missense 3/12 - 1
20-43257727-T-C c.179A>G p.Asp60Gly Missense 3/12 - 1
20-43257727-T-G c.179A>C p.Asp60Ala Missense 3/12 - 1
20-43257731-G-A c.175C>T p.Pro59Ser Missense 3/12 - 1
20-43257738-GAG-ATG c.167_168delinsAT p.Leu56His Missense 3/12 - 1
20-43257743-G-T c.163C>A p.Pro55Thr Missense 3/12 - 1
20-43257744-CTT-TTT c.162delinsA p.Lys54Lys Missense 3/12 - 1
20-43257745-T-C c.161A>G p.Lys54Arg Missense 3/12 - 2
20-43257749-C-T c.157G>A p.Asp53Asn Missense 3/12 - 1
20-43257751-A-T c.155T>A p.Met52Lys Missense 3/12 - 1
20-43257754-C-G c.152G>C p.Gly51Ala Missense 3/12 - 1
20-43257757-A-G c.149T>C p.Ile50Thr Missense 3/12 - 2
20-43257761-C-T c.145G>A p.Val49Ile Missense 3/12 - 1
20-43257762-CG-C c.144del p.Asn48Lysfs*40 Frameshift 3/12 - 1
20-43257762-G-GG c.144dup p.Val49Argfs*18 Frameshift 3/12 - 1
20-43257763-T-C c.143A>G p.Asn48Ser Missense 3/12 - 1
20-43257769-A-G c.137T>C p.Leu46Pro Missense 3/12 - 1
20-43257772-C-T c.134G>A p.Gly45Glu Missense 3/12 - 1
20-43257777-TG-AC c.128_129delinsGT p.Ala43Gly Missense 3/12 - 1
20-43257777-TGC-TTT c.127_128delinsAA p.Ala43Lys Missense 3/12 - 1
20-43257782-T-C c.124A>G p.Thr42Ala Missense 3/12 - 1
20-43257783-GTT-CAA c.121_123delinsTTG p.Asn41Leu Missense 3/12 - 1
20-43257784-T-C c.122A>G p.Asn41Ser Missense 3/12 - 2
20-43257785-T-A c.121A>T p.Asn41Tyr Missense 3/12 - 1
20-43257794-G-A c.112C>T p.Leu38Phe Missense 3/12 - 1
20-43257798-G-C c.108C>G p.Ile36Met Missense 3/12 - 1
20-43257799-A-G c.107T>C p.Ile36Thr Missense 3/12 - 1
20-43257800-T-G c.106A>C p.Ile36Leu Missense 3/12 - 1
20-43257803-C-G c.103G>C p.Gly35Arg Missense 3/12 - 1
20-43257803-C-T c.103G>A p.Gly35Arg Missense 3/12 - 1
20-43257804-TCT-TGG c.100_101delinsCC p.Arg34Pro Missense 3/12 - 1
20-43257805-C-G c.101G>C p.Arg34Thr Missense 3/12 - 1
20-43257805-C-T c.101G>A p.Arg34Lys Missense 3/12 - 1
20-43257808-C-T c.98G>A p.Arg33Lys Missense 3/12 - 1
20-43257808-CT-CA c.97delinsT p.Arg33Trp Missense 3/12 - 2
20-43257809-T-A c.97A>T p.Arg33Trp Missense 3/12 - 1
20-43259306-A-G c.96-1496T>C - IntronicSNV - 2/11 4
20-43260189-T-C c.96-2379A>G - IntronicSNV - 2/11 1
20-43260694-C-T c.96-2884G>A - IntronicSNV - 2/11 4
20-43262827-G-C c.95+2041C>G - IntronicSNV - 2/11 3
20-43263198-A-G c.95+1670T>C - IntronicSNV - 2/11 2
20-43263356-C-A c.95+1512G>T - IntronicSNV - 2/11 3
20-43263356-C-T c.95+1512G>A - IntronicSNV - 2/11 3
20-43264691-C-G c.95+177G>C - IntronicSNV - 2/11 3
20-43264868-C-T c.95G>A p.Arg32Lys Missense 2/12 - 1
20-43264873-ATA-GAG c.88_90delinsCTC p.Tyr30Leu Missense 2/12 - 1
20-43264874-T-C c.89A>G p.Tyr30Cys Missense 2/12 - 1
20-43264875-A-G c.88T>C p.Tyr30His Missense 2/12 - 1
20-43264877-T-C c.86A>G p.Tyr29Cys Missense 2/12 - 1
20-43264879-TAA-CAT c.82_84delinsATG p.Leu28Met Missense 2/12 - 1
20-43264881-A-C c.82T>G p.Leu28Val Missense 2/12 - 1
20-43264883-A-G c.80T>C p.Ile27Thr Missense 2/12 - 1
20-43264886-G-A c.77C>T p.Thr26Ile Missense 2/12 - 1
20-43264893-G-T c.70C>A p.Pro24Thr Missense 2/12 - 1
20-43264895-T-C c.68A>G p.Lys23Arg Missense 2/12 - 2
20-43264899-T-A c.64A>T p.Ile22Phe Missense 2/12 - 1
20-43264901-G-C c.62C>G p.Ser21Cys Missense 2/12 - 1
20-43264902-A-C c.61T>G p.Ser21Ala Missense 2/12 - 1
20-43264904-C-G c.59G>C p.Gly20Ala Missense 2/12 - 2
20-43264908-C-T c.55G>A p.Asp19Asn Missense 2/12 - 1
20-43264910-A-G c.53T>C p.Leu18Pro Missense 2/12 - 1
20-43264910-AG-GC c.52_53delinsGC p.Leu18Ala Missense 2/12 - 2
20-43264912-G-C c.51C>G p.His17Gln Missense 2/12 - 1
20-43264913-T-G c.50A>C p.His17Pro Missense 2/12 - 1
20-43264914-G-A c.49C>T p.His17Tyr Missense 2/12 - 1
20-43264919-T-G c.44A>C p.His15Pro Missense 2/12 - 1
20-43264919-TG-GC c.43_44delinsGC p.His15Ala Missense 2/12 - 1
20-43264920-G-C c.43C>G p.His15Asp Missense 2/12 - 5
20-43264922-A-G c.41T>C p.Leu14Pro Missense 2/12 - 1
20-43264924-GTTC-G c.37_39del p.Glu13del InFrameDeletion 2/12 - 1
20-43264926-TCC-T c.36_37del p.Glu13Thrfs*12 Frameshift 2/12 - 1
20-43264927-C-T c.36G>A p.Val12Val Synonymous 2/12 - 2
20-43264929-C-A c.34G>T p.Val12Leu Missense 2/12 - 1
20-43264929-C-G c.34G>C p.Val12Leu Missense 2/12 - 1
20-43267265-T-G c.34-2336A>C - IntronicSNV - 1/11 2
20-43269926-A-T c.34-4997T>A - IntronicSNV - 1/11 1
20-43270002-A-G c.34-5073T>C - IntronicSNV - 1/11 2
20-43270002-A-T c.34-5073T>A - IntronicSNV - 1/11 2
20-43271102-G-T c.34-6173C>A - IntronicSNV - 1/11 6
20-43271392-C-G c.34-6463G>C - IntronicSNV - 1/11 3
20-43271392-C-T c.34-6463G>A - IntronicSNV - 1/11 3
20-43271579-T-G c.34-6650A>C - IntronicSNV - 1/11 1
20-43272338-T-A c.34-7409A>T - IntronicSNV - 1/11 2
20-43272338-T-G c.34-7409A>C - IntronicSNV - 1/11 2
20-43272585-T-C c.33+7631A>G - IntronicSNV - 1/11 1
20-43273635-T-A c.33+6581A>T - IntronicSNV - 1/11 1
20-43273635-T-C c.33+6581A>G - IntronicSNV - 1/11 1
20-43273692-G-T c.33+6524C>A - IntronicSNV - 1/11 1
20-43274189-G-A c.33+6027C>T - IntronicSNV - 1/11 1
20-43274594-G-A c.33+5622C>T - IntronicSNV - 1/11 1
20-43275001-T-C c.33+5215A>G - IntronicSNV - 1/11 6
20-43276246-G-A c.33+3970C>T - IntronicSNV - 1/11 1
20-43276688-A-G c.33+3528T>C - IntronicSNV - 1/11 2
20-43276862-C-G c.33+3354G>C - IntronicSNV - 1/11 1
20-43276862-C-T c.33+3354G>A - IntronicSNV - 1/11 1
20-43279834-C-G c.33+382G>C - IntronicSNV - 1/11 1
20-43279834-C-T c.33+382G>A - IntronicSNV - 1/11 1
20-43280219-GG-AA c.29_30delinsTT p.Pro10Leu Missense 1/12 - 1
20-43280227-C-A c.22G>T p.Asp8Tyr Missense 1/12 - 19
20-43280227-C-G c.22G>C p.Asp8His Missense 1/12 - 19
20-43280227-C-T c.22G>A p.Asp8Asn Missense 1/12 - 23
20-43280228-G-A c.21C>T p.Phe7Phe Synonymous 1/12 - 1
20-43280229-A-G c.20T>C p.Phe7Ser Missense 1/12 - 1
20-43280237-C-A c.12G>T p.Thr4Thr Synonymous 1/12 - 1
20-43280237-C-G c.12G>C p.Thr4Thr Synonymous 1/12 - 1
20-43280237-C-T c.12G>A p.Thr4Thr Synonymous 1/12 - 1
20-43280242-G-A c.7C>T p.Gln3* Nonsense 1/12 - 4
20-43280243-G-A c.6C>T p.Ala2Ala Synonymous 1/12 - 4
20-43280243-G-C c.6C>G p.Ala2Ala Synonymous 1/12 - 4
20-43280243-G-T c.6C>A p.Ala2Ala Synonymous 1/12 - 4
20-43280247-A-G c.2T>C p.Met1? Missense 1/12 - 2
20-43280248-T-C c.1A>G p.Met1? Missense 1/12 - 1