HLA-DRA

HLA-DRA major histocompatibility complex, class II, DR alpha

Annotation transcript: NM_019111.5

420 unique variant annotations were identified in 676 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
6-32407688-C-T c.-40C>T - 5-UTRSNV 1/5 - 1
6-32407689-C-G c.-39C>G - 5-UTRSNV 1/5 - 1
6-32407689-C-T c.-39C>T - 5-UTRSNV 1/5 - 1
6-32407709-C-A c.-19C>A - 5-UTRSNV 1/5 - 14
6-32407730-G-A c.3G>A p.M1? Missense 1/5 - 2
6-32407731-G-A c.4G>A p.A2T Missense 1/5 - 1
6-32407733-C-T c.6C>T p.A2= Synonymous 1/5 - 2
6-32407743-G-A c.16G>A p.V6I Missense 1/5 - 1
6-32407746-C-T c.19C>T p.P7S Missense 1/5 - 2
6-32407747-C-G c.20C>G p.P7R Missense 1/5 - 1
6-32407755-G-T c.28G>T p.G10* Nonsense 1/5 - 1
6-32407758-TT-CG c.31_32delinsCG p.F11R Missense 1/5 - 18
6-32407761-T-A c.34T>A p.F12I Missense 1/5 - 1
6-32407762-T-C c.35T>C p.F12S Missense 1/5 - 1
6-32407763-C-G c.36C>G p.F12L Missense 1/5 - 2
6-32407763-C-T c.36C>T p.F12= Synonymous 1/5 - 1
6-32407765-T-C c.38T>C p.I13T Missense 1/5 - 1
6-32407770-G-A c.43G>A p.A15T Missense 1/5 - 1
6-32407770-GC-CA c.43_44delinsCA p.A15H Missense 1/5 - 1
6-32407770-GCT-TAA c.43_45delinsTAA p.A15* Nonsense 1/5 - 1
6-32407771-C-A c.44C>A p.A15D Missense 1/5 - 1
6-32407773-G-C c.46G>C p.V16L Missense 1/5 - 8
6-32407773-G-T c.46G>T p.V16L Missense 1/5 - 1
6-32407774-T-C c.47T>C p.V16A Missense 1/5 - 1
6-32407775-G-A c.48G>A p.V16= Synonymous 1/5 - 1
6-32407775-G-C c.48G>C p.V16= Synonymous 1/5 - 1
6-32407775-G-T c.48G>T p.V16= Synonymous 1/5 - 1
6-32407780-T-C c.53T>C p.M18T Missense 1/5 - 1
6-32407782-AG-GC c.55_56delinsGC p.S19A Missense 1/5 - 4
6-32407782-A-T c.55A>T p.S19C Missense 1/5 - 2
6-32407785-G-A c.58G>A p.A20T Missense 1/5 - 1
6-32407785-GC-AT c.58_59delinsAT p.A20I Missense 1/5 - 1
6-32407785-GC-CA c.58_59delinsCA p.A20H Missense 1/5 - 1
6-32407785-GC-TG c.58_59delinsTG p.A20C Missense 1/5 - 4
6-32407785-GC-TT c.58_59delinsTT p.A20F Missense 1/5 - 1
6-32407785-GCT-TGG c.58_60delinsTGG p.A20W Missense 1/5 - 1
6-32407785-G-T c.58G>T p.A20S Missense 1/5 - 1
6-32407786-C-A c.59C>A p.A20D Missense 1/5 - 2
6-32407786-C-T c.59C>T p.A20V Missense 1/5 - 1
6-32407787-T-A c.60T>A p.A20= Synonymous 1/5 - 1
6-32407787-T-C c.60T>C p.A20= Synonymous 1/5 - 2
6-32407787-T-G c.60T>G p.A20= Synonymous 1/5 - 1
6-32407790-G-A c.63G>A p.Q21= Synonymous 1/5 - 1
6-32407797-T-A c.70T>A p.W24R Missense 1/5 - 1
6-32407797-T-C c.70T>C p.W24R Missense 1/5 - 1
6-32407799-G-A c.72G>A p.W24* Nonsense 1/5 - 2
6-32407800-G-A c.73G>A p.A25T Missense 1/5 - 1
6-32407800-GC-TT c.73_74delinsTT p.A25F Missense 1/5 - 1
6-32407800-G-T c.73G>T p.A25S Missense 1/5 - 1
6-32407801-C-A c.74C>A p.A25D Missense 1/5 - 2
6-32407801-C-T c.74C>T p.A25V Missense 1/5 - 1
6-32407801-CT-AG c.74_75inv p.A25E Missense 1/5 - 1
6-32407805-C-A c.78C>A p.I26= Synonymous 1/5 - 1
6-32407805-C-G c.78C>G p.I26M Missense 1/5 - 1
6-32407805-C-T c.78C>T p.I26= Synonymous 1/5 - 1
6-32407807-AA-TG c.80_81delinsTG p.K27M Missense 1/5 - 1
6-32407855-T-C c.82+46T>C - IntronicSNV - 1/4 1
6-32407906-T-C c.82+97T>C - IntronicSNV - 1/4 2
6-32408012-G-A c.82+203G>A - IntronicSNV - 1/4 5
6-32408044-A-C c.82+235A>C - IntronicSNV - 1/4 10
6-32408497-A-G c.82+688A>G - IntronicSNV - 1/4 16
6-32408527-C-G c.82+718C>G - IntronicSNV - 1/4 27
6-32408527-C-T c.82+718C>T - IntronicSNV - 1/4 27
6-32408597-G-A c.82+788G>A - IntronicSNV - 1/4 9
6-32408735-A-C c.82+926A>C - IntronicSNV - 1/4 10
6-32408842-A-G c.82+1033A>G - IntronicSNV - 1/4 4
6-32408907-G-A c.82+1098G>A - IntronicSNV - 1/4 2
6-32408917-T-C c.82+1108T>C - IntronicSNV - 1/4 1
6-32409056-A-G c.83-1169A>G - IntronicSNV - 1/4 3
6-32409242-C-A c.83-983C>A - IntronicSNV - 1/4 10
6-32409277-T-G c.83-948T>G - IntronicSNV - 1/4 1
6-32409484-C-T c.83-741C>T - IntronicSNV - 1/4 6
6-32409499-A-G c.83-726A>G - IntronicSNV - 1/4 2
6-32409530-G-A c.83-695G>A - IntronicSNV - 1/4 76
6-32409656-G-A c.83-569G>A - IntronicSNV - 1/4 6
6-32409662-T-A c.83-563T>A - IntronicSNV - 1/4 1
6-32409697-C-A c.83-528C>A - IntronicSNV - 1/4 1
6-32409708-C-T c.83-517C>T - IntronicSNV - 1/4 5
6-32409781-C-T c.83-444C>T - IntronicSNV - 1/4 5
6-32409787-T-C c.83-438T>C - IntronicSNV - 1/4 5
6-32409844-G-A c.83-381G>A - IntronicSNV - 1/4 1
6-32409953-A-G c.83-272A>G - IntronicSNV - 1/4 1
6-32409996-T-C c.83-229T>C - IntronicSNV - 1/4 4
6-32410083-C-A c.83-142C>A - IntronicSNV - 1/4 1
6-32410087-T-C c.83-138T>C - IntronicSNV - 1/4 3
6-32410137-T-C c.83-88T>C - IntronicSNV - 1/4 8
6-32410137-T-G c.83-88T>G - IntronicSNV - 1/4 8
6-32410210-T-C c.83-15T>C - IntronicSNV - 1/4 2
6-32410215-T-C c.83-10T>C - IntronicSNV - 1/4 2
6-32410230-C-T c.88C>T p.H30Y Missense 2/5 - 3
6-32410239-A-G c.97A>G p.I33V Missense 2/5 - 2
6-32410244-G-A c.102G>A p.Q34= Synonymous 2/5 - 1
6-32410248-G-A c.106G>A p.E36K Missense 2/5 - 1
6-32410250-G-C c.108G>C p.E36D Missense 2/5 - 2
6-32410250-G-T c.108G>T p.E36D Missense 2/5 - 3
6-32410257-C-A c.115C>A p.L39M Missense 2/5 - 1
6-32410261-A-T c.119A>T p.N40I Missense 2/5 - 1
6-32410262-T-C c.120T>C p.N40= Synonymous 2/5 - 1
6-32410263-C-T c.121C>T p.P41S Missense 2/5 - 2
6-32410264-C-T c.122C>T p.P41L Missense 2/5 - 3
6-32410268-C-G c.126C>G p.D42E Missense 2/5 - 1
6-32410272-T-C c.130T>C p.S44P Missense 2/5 - 1
6-32410273-C-T c.131C>T p.S44L Missense 2/5 - 1
6-32410276-G-A c.134G>A p.G45D Missense 2/5 - 2
6-32410276-G-C c.134G>C p.G45A Missense 2/5 - 1
6-32410277-C-A c.135C>A p.G45= Synonymous 2/5 - 1
6-32410277-C-G c.135C>G p.G45= Synonymous 2/5 - 1
6-32410277-C-T c.135C>T p.G45= Synonymous 2/5 - 2
6-32410278-G-A c.136G>A p.E46K Missense 2/5 - 6
6-32410278-G-T c.136G>T p.E46* Nonsense 2/5 - 1
6-32410280-G-C c.138G>C p.E46D Missense 2/5 - 1
6-32410280-G-T c.138G>T p.E46D Missense 2/5 - 1
6-32410281-T-C c.139T>C p.F47L Missense 2/5 - 1
6-32410283-T-A c.141T>A p.F47L Missense 2/5 - 1
6-32410283-T-G c.141T>G p.F47L Missense 2/5 - 1
6-32410285-T-A c.143T>A p.M48K Missense 2/5 - 1
6-32410304-T-A c.162T>A p.D54E Missense 2/5 - 1
6-32410304-T-G c.162T>G p.D54E Missense 2/5 - 1
6-32410313-C-A c.171C>A p.F57L Missense 2/5 - 1
6-32410318-T-C c.176T>C p.V59A Missense 2/5 - 1
6-32410320-GA-TT c.178_179delinsTT p.D60F Missense 2/5 - 1
6-32410324-T-C c.182T>C p.M61T Missense 2/5 - 1
6-32410326-G-A c.184G>A p.A62T Missense 2/5 - 2
6-32410326-G-T c.184G>T p.A62S Missense 2/5 - 1
6-32410328-A-C c.186A>C p.A62= Synonymous 2/5 - 1
6-32410328-A-G c.186A>G p.A62= Synonymous 2/5 - 1
6-32410328-A-T c.186A>T p.A62= Synonymous 2/5 - 1
6-32410334-G-A c.192G>A p.K64= Synonymous 2/5 - 3
6-32410335-G-A c.193G>A p.E65K Missense 2/5 - 6
6-32410337-G-C c.195G>C p.E65D Missense 2/5 - 1
6-32410337-G-T c.195G>T p.E65D Missense 2/5 - 1
6-32410339-C-T c.197C>T p.T66M Missense 2/5 - 3
6-32410340-G-A c.198G>A p.T66= Synonymous 2/5 - 1
6-32410341-G-A c.199G>A p.V67I Missense 2/5 - 4
6-32410341-G-C c.199G>C p.V67L Missense 2/5 - 1
6-32410342-T-C c.200T>C p.V67A Missense 2/5 - 1
6-32410345-G-T c.203G>T p.W68L Missense 2/5 - 3
6-32410347-C-T c.205C>T p.R69W Missense 2/5 - 7
6-32410348-G-T c.206G>T p.R69L Missense 2/5 - 1
6-32410353-G-A c.211G>A p.E71K Missense 2/5 - 1
6-32410356-G-T c.214G>T p.E72* Nonsense 2/5 - 2
6-32410359-TT-GC c.217_218delinsGC p.F73A Missense 2/5 - 1
6-32410360-T-G c.218T>G p.F73C Missense 2/5 - 1
6-32410361-T-C c.219T>C p.F73= Synonymous 2/5 - 4
6-32410362-G-A c.220G>A p.G74R Missense 2/5 - 2
6-32410362-G-C c.220G>C p.G74R Missense 2/5 - 1
6-32410365-C-T c.223C>T p.R75* Nonsense 2/5 - 4
6-32410366-G-A c.224G>A p.R75Q Missense 2/5 - 8
6-32410369-T-A c.227T>A p.F76Y Missense 2/5 - 1
6-32410369-T-C c.227T>C p.F76S Missense 2/5 - 1
6-32410369-T-G c.227T>G p.F76C Missense 2/5 - 1
6-32410371-G-C c.229G>C p.A77P Missense 2/5 - 1
6-32410371-GCC-CAA c.229_231delinsCAA p.A77Q Missense 2/5 - 1
6-32410371-GCC-TGG c.229_231delinsTGG p.A77W Missense 2/5 - 1
6-32410372-CC-AG c.230_231delinsAG p.A77E Missense 2/5 - 1
6-32410376-C-A c.234C>A p.S78R Missense 2/5 - 2
6-32410376-C-T c.234C>T p.S78= Synonymous 2/5 - 1
6-32410377-T-A c.235T>A p.F79I Missense 2/5 - 2
6-32410387-A-G c.245A>G p.Q82R Missense 2/5 - 1
6-32410388-A-G c.246A>G p.Q82= Synonymous 2/5 - 1
6-32410392-G-A c.250G>A p.A84T Missense 2/5 - 1
6-32410393-C-A c.251C>A p.A84E Missense 2/5 - 1
6-32410393-CA-AC c.251_252delinsAC p.A84D Missense 2/5 - 1
6-32410398-G-A c.256G>A p.A86T Missense 2/5 - 2
6-32410407-GC-TG c.265_266delinsTG p.A89C Missense 2/5 - 1
6-32410409-T-A c.267T>A p.A89= Synonymous 2/5 - 1
6-32410409-T-C c.267T>C p.A89= Synonymous 2/5 - 1
6-32410409-T-G c.267T>G p.A89= Synonymous 2/5 - 1
6-32410413-GA-TG c.271_272delinsTG p.D91C Missense 2/5 - 1
6-32410419-GCC-TAA c.277_279delinsTAA p.A93* Nonsense 2/5 - 1
6-32410419-GCC-TGG c.277_279delinsTGG p.A93W Missense 2/5 - 1
6-32410419-GC-TA c.277_278delinsTA p.A93Y Missense 2/5 - 1
6-32410420-C-A c.278C>A p.A93D Missense 2/5 - 4
6-32410420-C-G c.278C>G p.A93G Missense 2/5 - 1
6-32410420-C-T c.278C>T p.A93V Missense 2/5 - 1
6-32410421-C-A c.279C>A p.A93= Synonymous 2/5 - 1
6-32410421-C-G c.279C>G p.A93= Synonymous 2/5 - 1
6-32410421-C-T c.279C>T p.A93= Synonymous 2/5 - 1
6-32410424-C-T c.282C>T p.N94= Synonymous 2/5 - 1
6-32410427-G-A c.285G>A p.L95= Synonymous 2/5 - 1
6-32410433-C-T c.291C>T p.I97= Synonymous 2/5 - 1
6-32410434-A-C c.292A>C p.M98L Missense 2/5 - 1
6-32410434-A-T c.292A>T p.M98L Missense 2/5 - 1
6-32410435-T-A c.293T>A p.M98K Missense 2/5 - 1
6-32410435-T-C c.293T>C p.M98T Missense 2/5 - 1
6-32410436-G-A c.294G>A p.M98I Missense 2/5 - 4
6-32410436-G-C c.294G>C p.M98I Missense 2/5 - 3
6-32410436-G-T c.294G>T p.M98I Missense 2/5 - 3
6-32410441-A-C c.299A>C p.K100T Missense 2/5 - 1
6-32410443-C-T c.301C>T p.R101C Missense 2/5 - 3
6-32410444-G-A c.302G>A p.R101H Missense 2/5 - 2
6-32410446-TC-AT c.304_305delinsAT p.S102I Missense 2/5 - 1
6-32410451-C-A c.309C>A p.N103K Missense 2/5 - 1
6-32410451-C-G c.309C>G p.N103K Missense 2/5 - 1
6-32410455-A-T c.313A>T p.T105S Missense 2/5 - 1
6-32410457-T-A c.315T>A p.T105= Synonymous 2/5 - 1
6-32410457-T-C c.315T>C p.T105= Synonymous 2/5 - 1
6-32410457-T-G c.315T>G p.T105= Synonymous 2/5 - 1
6-32410458-C-G c.316C>G p.P106A Missense 2/5 - 1
6-32410459-C-T c.317C>T p.P106L Missense 2/5 - 5
6-32410469-T-C c.327T>C p.N109= Synonymous 2/5 - 1
6-32410500-A-G c.328+30A>G - IntronicSNV - 2/4 1
6-32410576-T-A c.328+106T>A - IntronicSNV - 2/4 4
6-32410576-T-C c.328+106T>C - IntronicSNV - 2/4 5
6-32410691-G-A c.328+221G>A - IntronicSNV - 2/4 3
6-32410693-A-G c.328+223A>G - IntronicSNV - 2/4 1
6-32410716-G-A c.328+246G>A - IntronicSNV - 2/4 6
6-32410716-G-C c.328+246G>C - IntronicSNV - 2/4 5
6-32410941-T-C c.329-21T>C - IntronicSNV - 2/4 7
6-32410964-C-T c.331C>T p.P111S Missense 3/5 - 1
6-32410965-C-T c.332C>T p.P111L Missense 3/5 - 4
6-32410967-C-T c.334C>T p.P112S Missense 3/5 - 1
6-32410970-G-A c.337G>A p.E113K Missense 3/5 - 2
6-32410970-G-C c.337G>C p.E113Q Missense 3/5 - 2
6-32410971-A-T c.338A>T p.E113V Missense 3/5 - 1
6-32410973-G-A c.340G>A p.V114I Missense 3/5 - 1
6-32410974-T-C c.341T>C p.V114A Missense 3/5 - 1
6-32410976-A-G c.343A>G p.T115A Missense 3/5 - 2
6-32410977-ACT-A c.344_345del p.T115Sfs*68 Frameshift 3/5 - 2
6-32410979-G-A c.346G>A p.V116M Missense 3/5 - 1
6-32410979-G-C c.346G>C p.V116L Missense 3/5 - 1
6-32410979-G-T c.346G>T p.V116L Missense 3/5 - 1
6-32410982-C-T c.349C>T p.L117F Missense 3/5 - 2
6-32410986-C-T c.353C>T p.T118I Missense 3/5 - 5
6-32410987-A-C c.354A>C p.T118= Synonymous 3/5 - 11
6-32410987-A-G c.354A>G p.T118= Synonymous 3/5 - 38
6-32410987-A-T c.354A>T p.T118= Synonymous 3/5 - 11
6-32410990-C-T c.357C>T p.N119= Synonymous 3/5 - 1
6-32411000-G-T c.367G>T p.E123* Nonsense 3/5 - 2
6-32411004-T-C c.371T>C p.L124P Missense 3/5 - 3
6-32411007-G-A c.374G>A p.R125K Missense 3/5 - 2
6-32411012-C-G c.379C>G p.P127A Missense 3/5 - 1
6-32411014-C-A c.381C>A p.P127= Synonymous 3/5 - 2
6-32411014-C-G c.381C>G p.P127= Synonymous 3/5 - 2
6-32411014-C-T c.381C>T p.P127= Synonymous 3/5 - 2
6-32411017-C-T c.384C>T p.N128= Synonymous 3/5 - 1
6-32411018-G-A c.385G>A p.V129I Missense 3/5 - 4
6-32411018-G-C c.385G>C p.V129L Missense 3/5 - 1
6-32411021-CT-GC c.388_389delinsGC p.L130A Missense 3/5 - 1
6-32411021-CTCA-C c.391_393del p.I131del InFrameDeletion 3/5 - 1
6-32411029-T-C c.396T>C p.C132= Synonymous 3/5 - 2
6-32411032-C-A c.399C>A p.F133L Missense 3/5 - 1
6-32411032-C-T c.399C>T p.F133= Synonymous 3/5 - 3
6-32411035-A-C c.402A>C p.I134= Synonymous 3/5 - 32
6-32411035-A-T c.402A>T p.I134= Synonymous 3/5 - 30
6-32411036-G-A c.403G>A p.D135N Missense 3/5 - 3
6-32411043-T-C c.410T>C p.F137S Missense 3/5 - 1
6-32411048-C-T c.415C>T p.P139S Missense 3/5 - 1
6-32411049-C-T c.416C>T p.P139L Missense 3/5 - 2
6-32411050-A-C c.417A>C p.P139= Synonymous 3/5 - 1
6-32411050-A-G c.417A>G p.P139= Synonymous 3/5 - 1
6-32411050-A-T c.417A>T p.P139= Synonymous 3/5 - 1
6-32411056-G-A c.423G>A p.V141= Synonymous 3/5 - 1
6-32411057-G-A c.424G>A p.V142I Missense 3/5 - 1
6-32411057-GTC-ATG c.424_426delinsATG p.V142M Missense 3/5 - 1
6-32411061-A-T c.428A>T p.N143I Missense 3/5 - 1
6-32411064-T-C c.431T>C p.V144A Missense 3/5 - 3
6-32411067-C-T c.434C>T p.T145M Missense 3/5 - 1
6-32411068-G-A c.435G>A p.T145= Synonymous 3/5 - 1
6-32411075-C-T c.442C>T p.R148* Nonsense 3/5 - 5
6-32411076-G-A c.443G>A p.R148Q Missense 3/5 - 5
6-32411079-A-G c.446A>G p.N149S Missense 3/5 - 1
6-32411081-G-A c.448G>A p.G150R Missense 3/5 - 5
6-32411081-G-C c.448G>C p.G150R Missense 3/5 - 3
6-32411082-G-A c.449G>A p.G150E Missense 3/5 - 5
6-32411082-G-C c.449G>C p.G150A Missense 3/5 - 1
6-32411085-A-C c.452A>C p.K151T Missense 3/5 - 1
6-32411087-C-T c.454C>T p.P152S Missense 3/5 - 2
6-32411089-T-A c.456T>A p.P152= Synonymous 3/5 - 1
6-32411089-T-C c.456T>C p.P152= Synonymous 3/5 - 1
6-32411089-T-G c.456T>G p.P152= Synonymous 3/5 - 1
6-32411091-T-C c.458T>C p.V153A Missense 3/5 - 1
6-32411092-C-T c.459C>T p.V153= Synonymous 3/5 - 1
6-32411098-A-T c.465A>T p.T155= Synonymous 3/5 - 1
6-32411105-T-A c.472T>A p.S158T Missense 3/5 - 1
6-32411109-A-G c.476A>G p.E159G Missense 3/5 - 1
6-32411112-C-A c.479C>A p.T160K Missense 3/5 - 1
6-32411120-CTG-TTT c.487_489delinsTTT p.L163F Missense 3/5 - 1
6-32411123-C-G c.490C>G p.P164A Missense 3/5 - 1
6-32411124-C-T c.491C>T p.P164L Missense 3/5 - 1
6-32411127-G-C c.494G>C p.R165T Missense 3/5 - 1
6-32411126-A-C c.493A>C p.R165= Synonymous 3/5 - 2
6-32411128-G-A c.495G>A p.R165= Synonymous 3/5 - 2
6-32411129-G-A c.496G>A p.E166K Missense 3/5 - 1
6-32411130-A-G c.497A>G p.E166G Missense 3/5 - 1
6-32411133-A-G c.500A>G p.D167G Missense 3/5 - 1
6-32411136-A-T c.503A>T p.H168L Missense 3/5 - 1
6-32411144-C-T c.511C>T p.R171C Missense 3/5 - 5
6-32411150-T-C c.517T>C p.F173L Missense 3/5 - 1
6-32411152-C-A c.519C>A p.F173L Missense 3/5 - 1
6-32411152-C-G c.519C>G p.F173L Missense 3/5 - 1
6-32411153-C-T c.520C>T p.H174Y Missense 3/5 - 4
6-32411157-A-G c.524A>G p.Y175C Missense 3/5 - 4
6-32411162-C-T c.529C>T p.P177S Missense 3/5 - 8
6-32411164-C-A c.531C>A p.P177= Synonymous 3/5 - 1
6-32411164-C-G c.531C>G p.P177= Synonymous 3/5 - 1
6-32411164-C-T c.531C>T p.P177= Synonymous 3/5 - 1
6-32411165-T-C c.532T>C p.F178L Missense 3/5 - 1
6-32411167-C-A c.534C>A p.F178L Missense 3/5 - 1
6-32411167-C-G c.534C>G p.F178L Missense 3/5 - 1
6-32411171-C-T c.538C>T p.P180S Missense 3/5 - 1
6-32411173-C-A c.540C>A p.P180= Synonymous 3/5 - 3
6-32411173-C-G c.540C>G p.P180= Synonymous 3/5 - 2
6-32411173-C-T c.540C>T p.P180= Synonymous 3/5 - 2
6-32411174-T-C c.541T>C p.S181P Missense 3/5 - 1
6-32411176-A-C c.543A>C p.S181= Synonymous 3/5 - 1
6-32411176-A-G c.543A>G p.S181= Synonymous 3/5 - 1
6-32411176-A-T c.543A>T p.S181= Synonymous 3/5 - 1
6-32411179-T-A c.546T>A p.T182= Synonymous 3/5 - 1
6-32411185-C-T c.552C>T p.D184= Synonymous 3/5 - 2
6-32411187-T-C c.554T>C p.V185A Missense 3/5 - 1
6-32411189-T-C c.556T>C p.Y186H Missense 3/5 - 1
6-32411192-G-A c.559G>A p.D187N Missense 3/5 - 3
6-32411194-C-T c.561C>T p.D187= Synonymous 3/5 - 1
6-32411195-T-A c.562T>A p.C188S Missense 3/5 - 1
6-32411195-T-C c.562T>C p.C188R Missense 3/5 - 1
6-32411196-G-C c.563G>C p.C188S Missense 3/5 - 1
6-32411197-C-T c.564C>T p.C188= Synonymous 3/5 - 2
6-32411198-AG-CA c.565_566delinsCA p.R189Q Missense 3/5 - 1
6-32411201-G-C c.568G>C p.V190L Missense 3/5 - 1
6-32411201-G-T c.568G>T p.V190L Missense 3/5 - 1
6-32411202-T-C c.569T>C p.V190A Missense 3/5 - 1
6-32411210-T-C c.577T>C p.W193R Missense 3/5 - 3
6-32411212-G-C c.579G>C p.W193C Missense 3/5 - 1
6-32411212-G-T c.579G>T p.W193C Missense 3/5 - 1
6-32411213-G-A c.580G>A p.G194S Missense 3/5 - 3
6-32411217-T-C c.584T>C p.L195S Missense 3/5 - 1
6-32411221-T-A c.588T>A p.D196E Missense 3/5 - 1
6-32411222-G-A c.589G>A p.E197K Missense 3/5 - 1
6-32411222-G-T c.589G>T p.E197* Nonsense 3/5 - 1
6-32411224-G-C c.591G>C p.E197D Missense 3/5 - 1
6-32411224-G-T c.591G>T p.E197D Missense 3/5 - 2
6-32411226-C-T c.593C>T p.P198L Missense 3/5 - 1
6-32411228-C-A c.595C>A p.L199I Missense 3/5 - 1
6-32411228-C-T c.595C>T p.L199F Missense 3/5 - 2
6-32411233-C-G c.600C>G p.L200= Synonymous 3/5 - 1
6-32411237-C-T c.604C>T p.H202Y Missense 3/5 - 2
6-32411240-T-A c.607T>A p.W203R Missense 3/5 - 2
6-32411240-T-C c.607T>C p.W203R Missense 3/5 - 3
6-32411286-C-T c.610+43C>T - IntronicSNV - 3/4 3
6-32411307-C-T c.610+64C>T - IntronicSNV - 3/4 5
6-32411362-A-C c.610+119A>C - IntronicSNV - 3/4 3
6-32411376-T-G c.610+133T>G - IntronicSNV - 3/4 3
6-32411523-T-A c.611-10T>A - IntronicSNV - 3/4 16
6-32411523-T-C c.611-10T>C - IntronicSNV - 3/4 16
6-32411542-C-T c.620C>T p.A207V Missense 4/5 - 1
6-32411543-T-A c.621T>A p.A207= Synonymous 4/5 - 1
6-32411543-T-C c.621T>C p.A207= Synonymous 4/5 - 1
6-32411543-T-G c.621T>G p.A207= Synonymous 4/5 - 1
6-32411545-CA-AT c.623_624delinsAT p.P208H Missense 4/5 - 1
6-32411547-AG-GC c.625_626delinsGC p.S209A Missense 4/5 - 1
6-32412279-G-GAACTAACT c.*12-150_*12-149insAACTAACT = Synonymous - 4/4 1
6-32411551-C-A c.629C>A p.P210H Missense 4/5 - 1
6-32411551-C-T c.629C>T p.P210L Missense 4/5 - 6
6-32411554-T-C c.632T>C p.L211P Missense 4/5 - 4
6-32411556-C-A c.634C>A p.P212T Missense 4/5 - 3
6-32411568-G-A c.646G>A p.E216K Missense 4/5 - 1
6-32411568-G-C c.646G>C p.E216Q Missense 4/5 - 1
6-32411568-G-T c.646G>T p.E216* Nonsense 4/5 - 1
6-32411573-C-T c.651C>T p.N217= Synonymous 4/5 - 5
6-32411577-G-A c.655G>A p.V219M Missense 4/5 - 4
6-32411578-T-C c.656T>C p.V219A Missense 4/5 - 1
6-32411583-G-T c.661G>T p.A221S Missense 4/5 - 1
6-32411586-C-CACACTCATTACCA c.664_665insACACTCATTACCA p.L222Hfs*70 Frameshift 4/5 - 1
6-32411586-C-T c.664C>T p.L222= Synonymous 4/5 - 1
6-32411588-G-A c.666G>A p.L222= Synonymous 4/5 - 1
6-32411588-G-C c.666G>C p.L222= Synonymous 4/5 - 1
6-32411588-G-GTACTC c.666_667insTACTC p.G223Yfs*4 Frameshift 4/5 - 1
6-32411588-G-T c.666G>T p.L222= Synonymous 4/5 - 1
6-32411590-GC-AG c.668_669delinsAG p.G223E Missense 4/5 - 1
6-32411595-A-G c.673A>G p.T225A Missense 4/5 - 1
6-32411604-C-A c.682C>A p.L228M Missense 4/5 - 1
6-32411611-G-C c.689G>C p.G230A Missense 4/5 - 1
6-32411613-A-G c.691A>G p.I231V Missense 4/5 - 1
6-32411617-T-C c.695T>C p.I232T Missense 4/5 - 4
6-32411622-G-T c.700G>T p.G234W Missense 4/5 - 2
6-32411630-C-G c.708C>G p.I236M Missense 4/5 - 6
6-32411631-T-G c.709T>G p.F237V Missense 4/5 - 2
6-32411633-C-T c.711C>T p.F237= Synonymous 4/5 - 1
6-32411640-A-C c.718A>C p.K240Q Missense 4/5 - 1
6-32411643-GGA-AGC c.721_723delinsAGC p.G241S Missense 4/5 - 1
6-32411644-G-A c.722G>A p.G241E Missense 4/5 - 3
6-32411646-T-A c.724T>A p.L242M Missense 4/5 - 1
6-32411646-T-C c.724T>C p.L242= Synonymous 4/5 - 1
6-32411646-T-G c.724T>G p.L242V Missense 4/5 - 77
6-32411648-G-A c.726G>A p.L242= Synonymous 4/5 - 1
6-32411649-CGC-TGG c.727_729delinsTGG p.R243W Missense 4/5 - 1
6-32411650-G-A c.728G>A p.R243H Missense 4/5 - 8
6-32411650-GC-AA c.728_729delinsAA p.R243Q Missense 4/5 - 1
6-32411660-T-C c.738T>C p.N246= Synonymous 4/5 - 1
6-32411670-C-T c.748C>T p.R250C Missense 4/5 - 6
6-32411676-GGG-AGC c.754_756delinsAGC p.G252S Missense 4/5 - 1
6-32411712-G-A c.*11+14G>A - IntronicSNV - 4/4 2
6-32411726-G-A c.*11+28G>A - IntronicSNV - 4/4 16
6-32411731-T-C c.*11+33T>C - IntronicSNV - 4/4 1
6-32411833-C-A c.*11+135C>A - IntronicSNV - 4/4 8
6-32411833-C-T c.*11+135C>T - IntronicSNV - 4/4 8
6-32411841-A-T c.*154A>T - IntronicSNV 5/5 - 4
6-32412571-A-T c.*154A>T - IntronicSNV 5/5 - 4
6-32411846-C-A c.*11+148C>A - IntronicSNV - 4/4 12
6-32411846-C-G c.*11+148C>G - IntronicSNV - 4/4 12
6-32411846-C-T c.*11+148C>T - IntronicSNV - 4/4 12
6-32411850-T-C c.*163T>C - IntronicSNV 5/5 - 6
6-32411850-T-G c.*163T>G - IntronicSNV 5/5 - 6
6-32412580-T-C c.*163T>C - IntronicSNV 5/5 - 9
6-32412580-T-G c.*163T>G - IntronicSNV 5/5 - 9
6-32412765-T-C c.*348T>C - IntronicSNV 5/5 - 2
6-32412388-T-A c.*12-41T>A - intron_variant - 4/4 6
6-32412388-T-G c.*12-41T>G - intron_variant - 4/4 6
6-32412395-C-A c.*12-34C>A - intron_variant - 4/4 6
6-32412398-C-G c.*12-31C>G - intron_variant - 4/4 5
6-32412398-C-T c.*12-31C>T - intron_variant - 4/4 5
6-32412435-G-A c.*18G>A - 3_prime_UTR_variant 5/5 - 42
6-32412480-G-A c.*63G>A - 3_prime_UTR_variant 5/5 - 23
6-32412539-A-G c.*122A>G - 3_prime_UTR_variant 5/5 - 17
6-32412566-T-A c.*149T>A - 3_prime_UTR_variant 5/5 - 2
6-32412592-G-A c.*175G>A - 3_prime_UTR_variant 5/5 - 9
6-32412592-G-C c.*175G>C - 3_prime_UTR_variant 5/5 - 9
6-32412666-T-C c.*249T>C - 3_prime_UTR_variant 5/5 - 2
6-32412809-T-A c.*392T>A - 3_prime_UTR_variant 5/5 - 6