NAT1

NAT1 N-acetyltransferase 1

Annotation transcript: NM_000662.8

409 unique variant annotations were identified in 391 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
8-18067711-G-A c.-86+22G>A - intron_variant - 1/2 1
8-18067876-C-T c.-86+187C>T - intron_variant - 1/2 1
8-18068074-A-G c.-86+385A>G - intron_variant - 1/2 8
8-18068074-A-T c.-86+385A>T - intron_variant - 1/2 8
8-18068106-C-T c.-86+417C>T - intron_variant - 1/2 1
8-18068176-G-A c.-86+487G>A - intron_variant - 1/2 2
8-18068176-G-C c.-86+487G>C - intron_variant - 1/2 2
8-18068215-C-T c.-86+526C>T - intron_variant - 1/2 1
8-18068245-T-C c.-86+556T>C - intron_variant - 1/2 2
8-18068282-A-G c.-86+593A>G - intron_variant - 1/2 1
8-18068359-G-C c.-86+670G>C - intron_variant - 1/2 2
8-18068430-C-A c.-86+741C>A - intron_variant - 1/2 2
8-18068430-C-G c.-86+741C>G - intron_variant - 1/2 2
8-18068439-A-G c.-86+750A>G - intron_variant - 1/2 1
8-18068500-G-A c.-86+811G>A - intron_variant - 1/2 1
8-18068682-T-A c.-86+993T>A - intron_variant - 1/2 2
8-18068701-G-A c.-86+1012G>A - intron_variant - 1/2 1
8-18068701-G-C c.-86+1012G>C - intron_variant - 1/2 1
8-18068835-T-C c.-86+1146T>C - intron_variant - 1/2 7
8-18069164-T-C c.-86+1475T>C - intron_variant - 1/2 4
8-18069514-C-A c.-86+1825C>A - intron_variant - 1/2 2
8-18070672-C-T c.-86+2983C>T - intron_variant - 1/2 1
8-18070708-A-C c.-86+3019A>C - intron_variant - 1/2 1
8-18070927-G-A c.-86+3238G>A - intron_variant - 1/2 3
8-18071000-C-G c.-86+3311C>G - intron_variant - 1/2 5
8-18071095-A-G c.-86+3406A>G - intron_variant - 1/2 4
8-18071095-A-T c.-86+3406A>T - intron_variant - 1/2 4
8-18071358-T-C c.-86+3669T>C - intron_variant - 1/2 1
8-18071419-T-C c.-86+3730T>C - intron_variant - 1/2 1
8-18071471-T-C c.-86+3782T>C - intron_variant - 1/2 1
8-18071618-G-A c.-86+3929G>A - intron_variant - 1/2 1
8-18071627-G-A c.-86+3938G>A - intron_variant - 1/2 1
8-18071638-A-G c.-86+3949A>G - intron_variant - 1/2 1
8-18071907-A-C c.-86+4218A>C - intron_variant - 1/2 9
8-18071907-A-G c.-86+4218A>G - intron_variant - 1/2 9
8-18071907-A-T c.-86+4218A>T - intron_variant - 1/2 9
8-18072241-G-A c.-86+4552G>A - intron_variant - 1/2 1
8-18072762-G-A c.-85-4158G>A - intron_variant - 1/2 1
8-18072809-G-C c.-85-4111G>C - intron_variant - 1/2 2
8-18073182-T-C c.-85-3738T>C - intron_variant - 1/2 4
8-18073690-T-G c.-85-3230T>G - intron_variant - 1/2 1
8-18073876-A-G c.-85-3044A>G - intron_variant - 1/2 1
8-18073942-A-G c.-85-2978A>G - intron_variant - 1/2 5
8-18074001-T-C c.-85-2919T>C - intron_variant - 1/2 1
8-18074243-A-C c.-85-2677A>C - intron_variant - 1/2 2
8-18074243-A-T c.-85-2677A>T - intron_variant - 1/2 2
8-18074261-G-A c.-85-2659G>A - intron_variant - 1/2 3
8-18074322-A-G c.-85-2598A>G - intron_variant - 1/2 3
8-18074322-A-T c.-85-2598A>T - intron_variant - 1/2 3
8-18074388-G-A c.-85-2532G>A - intron_variant - 1/2 2
8-18074388-G-T c.-85-2532G>T - intron_variant - 1/2 2
8-18074492-C-T c.-85-2428C>T - intron_variant - 1/2 1
8-18074536-G-A c.-85-2384G>A - intron_variant - 1/2 6
8-18074536-G-C c.-85-2384G>C - intron_variant - 1/2 6
8-18075168-C-T c.-85-1752C>T - intron_variant - 1/2 1
8-18072846-G-A c.-85-4074G>A - IntronicSNV - 1/2 1
8-18072846-G-T c.-85-4074G>T - IntronicSNV - 1/2 1
8-18075398-G-A c.-85-4074G>A - IntronicSNV - 1/2 1
8-18075398-G-T c.-85-4074G>T - IntronicSNV - 1/2 1
8-18075423-C-G c.-85-1497C>G - intron_variant - 1/2 1
8-18075423-C-T c.-85-1497C>T - intron_variant - 1/2 1
8-18075424-T-C c.-85-1496T>C - intron_variant - 1/2 1
8-18075586-C-T c.-85-1334C>T - intron_variant - 1/2 1
8-18075731-G-A c.-85-1189G>A - intron_variant - 1/2 1
8-18075906-T-A c.-85-1014T>A - intron_variant - 1/2 5
8-18075906-T-G c.-85-3566T>G - IntronicSNV - 1/2 1
8-18075997-G-C c.-85-923G>C - intron_variant - 1/2 4
8-18076155-G-C c.-85-3317G>C - IntronicSNV - 1/2 1
8-18076155-G-T c.-85-3317G>T - IntronicSNV - 1/2 1
8-18076731-T-C c.-85-189T>C - intron_variant - 1/2 1
8-18076751-G-A c.-85-169G>A - intron_variant - 1/2 1
8-18076779-A-G c.-85-141A>G - intron_variant - 1/2 1
8-18076924-C-G c.-81C>G - 5_prime_UTR_variant 2/3 - 1
8-18076976-C-T c.-29C>T - 5_prime_UTR_variant 2/3 - 2
8-18077007-G-C c.-7+9G>C - intron_variant - 2/2 10
8-18077007-G-T c.-7+9G>T - intron_variant - 2/2 10
8-18077045-T-C c.-7+47T>C - intron_variant - 2/2 1
8-18077168-G-A c.-7+170G>A - intron_variant - 2/2 1
8-18077202-T-G c.-7+204T>G - intron_variant - 2/2 1
8-18077214-G-A c.-7+216G>A - intron_variant - 2/2 1
8-18077310-T-C c.-7+312T>C - intron_variant - 2/2 10
8-18077320-T-C c.-7+322T>C - intron_variant - 2/2 1
8-18077363-A-AAACAG c.-85-2107_-85-2103dup - IntronicInsertion - 1/2 1
8-18077364-A-AACAG c.-85-2106_-85-2103dup - IntronicInsertion - 1/2 1
8-18077499-G-A c.-7+501G>A - intron_variant - 2/2 1
8-18077576-C-A c.-7+578C>A - intron_variant - 2/2 1
8-18077646-A-G c.-7+648A>G - intron_variant - 2/2 1
8-18077646-A-T c.-7+648A>T - intron_variant - 2/2 1
8-18077782-A-G c.-7+784A>G - intron_variant - 2/2 1
8-18077987-A-G c.-7+989A>G - intron_variant - 2/2 2
8-18078009-G-A c.-7+1011G>A - intron_variant - 2/2 1
8-18078171-A-C c.-7+1173A>C - intron_variant - 2/2 1
8-18078257-A-G c.-7+1259A>G - intron_variant - 2/2 1
8-18078357-A-G c.-6-1194A>G - IntronicSNV - 2/2 1
8-18078445-G-A c.-6-1106G>A - IntronicSNV - 2/2 2
8-18078445-G-T c.-6-1106G>T - IntronicSNV - 2/2 2
8-18078509-G-A c.-6-1042G>A - IntronicSNV - 2/2 1
8-18078509-G-C c.-6-1042G>C - IntronicSNV - 2/2 1
8-18078614-C-T c.-6-937C>T - IntronicSNV - 2/2 1
8-18078615-A-G c.-85-857A>G - IntronicSNV - 1/2 1
8-18078628-G-A c.-6-923G>A - IntronicSNV - 2/2 6
8-18078689-G-A c.-6-862G>A - IntronicSNV - 2/2 2
8-18078713-G-A c.-6-838G>A - IntronicSNV - 2/2 2
8-18078731-T-C c.-6-820T>C - IntronicSNV - 2/2 2
8-18078834-T-C c.-85-638T>C - IntronicSNV - 1/2 1
8-18078851-A-G c.-6-700A>G - IntronicSNV - 2/2 2
8-18078851-A-T c.-6-700A>T - IntronicSNV - 2/2 2
8-18078869-C-G c.-6-682C>G - IntronicSNV - 2/2 2
8-18078872-T-C c.-6-679T>C - IntronicSNV - 2/2 2
8-18078889-C-G c.-85-583C>G - IntronicSNV - 1/2 1
8-18078992-A-G c.-6-559A>G - IntronicSNV - 2/2 1
8-18079124-T-C c.-6-427T>C - IntronicSNV - 2/2 2
8-18079213-C-A c.-6-338C>A - IntronicSNV - 2/2 18
8-18079213-C-T c.-6-338C>T - IntronicSNV - 2/2 18
8-18079279-T-A c.-6-272T>A - IntronicSNV - 2/2 2
8-18079384-C-G c.-85-88C>G - IntronicSNV - 1/2 1
8-18079384-C-T c.-85-88C>T - IntronicSNV - 1/2 1
8-18079406-A-G c.-85-66A>G - IntronicSNV - 1/2 2
8-18067697-G-A c.-86+8G>A - IntronicSNV - 1/2 1
8-18067697-G-C c.-86+8G>C - IntronicSNV - 1/2 1
8-18079517-A-T c.-6-34A>T - IntronicSNV - 2/2 15
8-18079521-A-T c.-6-30A>T - IntronicSNV - 2/2 3
8-18079550-G-A c.-7G>A - IntronicSNV 2/3 - 2
8-18079550-G-T c.-7G>T - IntronicSNV 2/3 - 2
8-18079570-C-A c.14C>A p.A5E Missense 3/3 - 1
8-18079571-A-G c.15A>G p.A5= Synonymous 3/3 - 1
8-18079577-T-A c.21T>A p.L7= Synonymous 3/3 - 1
8-18079577-T-C c.21T>C p.L7= Synonymous 3/3 - 1
8-18079577-T-G c.21T>G p.L7= Synonymous 3/3 - 10
8-18079581-AG-CA c.25_26delinsCA p.R9Q Missense 3/3 - 1
8-18079582-G-A c.26G>A p.R9K Missense 3/3 - 1
8-18079586-T-A c.30T>A p.I10= Synonymous 3/3 - 1
8-18079586-T-C c.30T>C p.I10= Synonymous 3/3 - 1
8-18079591-A-G c.35A>G p.Y12C Missense 3/3 - 1
8-18079599-TC-CA c.43_44delinsCA p.S15H Missense 3/3 - 1
8-18079599-T-G c.43T>G p.S15A Missense 3/3 - 2
8-18079606-A-G c.50A>G p.N17S Missense 3/3 - 1
8-18079607-C-T c.51C>T p.N17= Synonymous 3/3 - 1
8-18079614-G-A c.58G>A p.D20N Missense 3/3 - 3
8-18079614-GA-TG c.58_59delinsTG p.D20C Missense 3/3 - 1
8-18079621-A-G c.65A>G p.E22G Missense 3/3 - 1
8-18079638-C-T c.82C>T p.L28F Missense 3/3 - 1
8-18079646-C-T c.90C>T p.H30= Synonymous 3/3 - 1
8-18079648-A-C c.92A>C p.Q31P Missense 3/3 - 1
8-18079648-A-G c.92A>G p.Q31R Missense 3/3 - 1
8-18079652-C-T c.96C>T p.I32= Synonymous 3/3 - 1
8-18079653-C-T c.97C>T p.R33* Nonsense 3/3 - 13
8-18079656-G-A c.100G>A p.A34T Missense 3/3 - 1
8-18079657-C-G c.101C>G p.A34G Missense 3/3 - 1
8-18079659-G-A c.103G>A p.V35I Missense 3/3 - 1
8-18079662-C-G c.106C>G p.P36A Missense 3/3 - 1
8-18079662-C-T c.106C>T p.P36S Missense 3/3 - 3
8-18079666-T-G c.110T>G p.F37C Missense 3/3 - 1
8-18079684-A-C c.128A>C p.H43P Missense 3/3 - 1
8-18079695-GC-TT c.139_140delinsTT p.A47F Missense 3/3 - 1
8-18079696-C-G c.140C>G p.A47G Missense 3/3 - 1
8-18079708-G-C c.152G>C p.G51A Missense 3/3 - 1
8-18079708-G-T c.152G>T p.G51V Missense 3/3 - 1
8-18079713-GAG-TGT c.157_159delinsTGT p.E53C Missense 3/3 - 1
8-18079720-T-C c.164T>C p.I55T Missense 3/3 - 1
8-18079725-G-T c.169G>T p.D57Y Missense 3/3 - 3
8-18079731-G-A c.175G>A p.V59I Missense 3/3 - 1
8-18079731-G-C c.175G>C p.V59L Missense 3/3 - 1
8-18079746-CG-TA c.190_191delinsTA p.R64* Nonsense 3/3 - 1
8-18079746-C-T c.190C>T p.R64W Missense 3/3 - 41
8-18079747-G-A c.191G>A p.R64Q Missense 3/3 - 8
8-18079748-G-A c.192G>A p.R64= Synonymous 3/3 - 1
8-18079750-G-A c.194G>A p.G65D Missense 3/3 - 1
8-18079752-G-A c.196G>A p.G66R Missense 3/3 - 1
8-18079753-G-A c.197G>A p.G66E Missense 3/3 - 1
8-18079757-G-A c.201G>A p.W67* Nonsense 3/3 - 1
8-18079757-G-C c.201G>C p.W67C Missense 3/3 - 2
8-18079757-G-T c.201G>T p.W67C Missense 3/3 - 1
8-18079766-G-T c.210G>T p.Q70H Missense 3/3 - 1
8-18079770-A-G c.214A>G p.N72D Missense 3/3 - 1
8-18079775-T-A c.219T>A p.H73Q Missense 3/3 - 1
8-18079775-T-G c.219T>G p.H73Q Missense 3/3 - 1
8-18079795-C-T c.239C>T p.T80I Missense 3/3 - 1
8-18079796-C-T c.240C>T p.T80= Synonymous 3/3 - 3
8-18079800-A-G c.244A>G p.I82V Missense 3/3 - 2
8-18079804-G-A c.248G>A p.G83D Missense 3/3 - 1
8-18079810-A-T c.254A>T p.E85V Missense 3/3 - 1
8-18079816-C-T c.260C>T p.T87M Missense 3/3 - 2
8-18079823-G-C c.267G>C p.L89F Missense 3/3 - 1
8-18079832-T-C c.276T>C p.Y92= Synonymous 3/3 - 1
8-18079839-AG-GC c.283_284delinsGC p.S95A Missense 3/3 - 1
8-18079839-AG-TA c.283_284delinsTA p.S95Y Missense 3/3 - 1
8-18079848-GC-AT c.292_293delinsAT p.A98I Missense 3/3 - 1
8-18079848-GC-CA c.292_293delinsCA p.A98H Missense 3/3 - 1
8-18079849-CC-AG c.293_294delinsAG p.A98E Missense 3/3 - 1
8-18079849-C-G c.293C>G p.A98G Missense 3/3 - 1
8-18079850-C-CA c.300dup p.Y101Ifs*15 Frameshift 3/3 - 3
8-18079861-G-A c.305G>A p.S102N Missense 3/3 - 1
8-18079863-A-G c.307A>G p.T103A Missense 3/3 - 1
8-18079866-G-T c.310G>T p.G104C Missense 3/3 - 1
8-18079875-CA-GC c.319_320delinsGC p.H107A Missense 3/3 - 1
8-18079877-C-T c.321C>T p.H107= Synonymous 3/3 - 1
8-18079879-T-A c.323T>A p.L108H Missense 3/3 - 1
8-18079883-C-A c.327C>A p.L109= Synonymous 3/3 - 2
8-18079883-C-G c.327C>G p.L109= Synonymous 3/3 - 2
8-18079883-C-T c.327C>T p.L109= Synonymous 3/3 - 2
8-18079888-A-G c.332A>G p.Q111R Missense 3/3 - 1
8-18079891-T-A c.335T>A p.V112E Missense 3/3 - 1
8-18079892-G-A c.336G>A p.V112= Synonymous 3/3 - 1
8-18079892-G-C c.336G>C p.V112= Synonymous 3/3 - 1
8-18079892-G-T c.336G>T p.V112= Synonymous 3/3 - 2
8-18079897-T-A c.341T>A p.I114N Missense 3/3 - 1
8-18079897-T-C c.341T>C p.I114T Missense 3/3 - 1
8-18079898-T-TG c.343dup p.D115Gfs*59 Frameshift 3/3 - 1
8-18079899-G-T c.343G>T p.D115Y Missense 3/3 - 1
8-18079900-A-G c.344A>G p.D115G Missense 3/3 - 1
8-18079902-G-T c.346G>T p.G116C Missense 3/3 - 1
8-18079906-G-C c.350G>C p.R117T Missense 3/3 - 5
8-18079910-C-T c.354C>T p.N118= Synonymous 3/3 - 1
8-18079911-T-TG c.355_356insG p.Y119* Nonsense 3/3 - 1
8-18079917-G-A c.361G>A p.V121I Missense 3/3 - 2
8-18079919-C-A c.363C>A p.V121= Synonymous 3/3 - 3
8-18079919-C-G c.363C>G p.V121= Synonymous 3/3 - 3
8-18079919-C-T c.363C>T p.V121= Synonymous 3/3 - 8
8-18079920-G-T c.364G>T p.D122Y Missense 3/3 - 1
8-18079923-GCT-ATG c.367_369delinsATG p.A123M Missense 3/3 - 1
8-18079924-C-A c.368C>A p.A123D Missense 3/3 - 4
8-18079930-T-C c.374T>C p.F125S Missense 3/3 - 5
8-18079932-GGA-TGT c.376_378delinsTGT p.G126C Missense 3/3 - 1
8-18079933-G-A c.377G>A p.G126E Missense 3/3 - 1
8-18079935-C-G c.379C>G p.R127G Missense 3/3 - 1
8-18079935-C-T c.379C>T p.R127C Missense 3/3 - 1
8-18079936-G-T c.380G>T p.R127L Missense 3/3 - 1
8-18079946-G-A c.390G>A p.Q130= Synonymous 3/3 - 1
8-18079946-G-C c.390G>C p.Q130H Missense 3/3 - 1
8-18079950-T-C c.394T>C p.W132R Missense 3/3 - 1
8-18079956-C-T c.400C>T p.P134S Missense 3/3 - 3
8-18079958-T-A c.402T>A p.P134= Synonymous 3/3 - 1
8-18079958-T-C c.402T>C p.P134= Synonymous 3/3 - 3
8-18079958-T-G c.402T>G p.P134= Synonymous 3/3 - 1
8-18079964-G-A c.408G>A p.E136= Synonymous 3/3 - 1
8-18079975-G-A c.419G>A p.G140E Missense 3/3 - 5
8-18079979-G-C c.423G>C p.K141N Missense 3/3 - 1
8-18079981-A-G c.425A>G p.D142G Missense 3/3 - 2
8-18079989-C-T c.433C>T p.Q145* Nonsense 3/3 - 1
8-18079990-A-T c.434A>T p.Q145L Missense 3/3 - 1
8-18079992-G-C c.436G>C p.V146L Missense 3/3 - 1
8-18079992-G-T c.436G>T p.V146L Missense 3/3 - 1
8-18080000-T-A c.444T>A p.C148* Nonsense 3/3 - 1
8-18080001-G-A c.445G>A p.V149I Missense 3/3 - 56
8-18080001-G-C c.445G>C p.V149L Missense 3/3 - 23
8-18080006-C-T c.450C>T p.F150= Synonymous 3/3 - 1
8-18080008-G-A c.452G>A p.R151H Missense 3/3 - 1
8-18080008-G-C c.452G>C p.R151P Missense 3/3 - 1
8-18080012-G-C c.456G>C p.L152F Missense 3/3 - 2
8-18080012-G-T c.456G>T p.L152F Missense 3/3 - 2
8-18080014-C-T c.458C>T p.T153M Missense 3/3 - 1
8-18080015-G-A c.459G>A p.T153= Synonymous 3/3 - 24
8-18080015-G-C c.459G>C p.T153= Synonymous 3/3 - 4
8-18080015-G-T c.459G>T p.T153= Synonymous 3/3 - 4
8-18080016-G-T c.460G>T p.E154* Nonsense 3/3 - 1
8-18080019-G-C c.463G>C p.E155Q Missense 3/3 - 2
8-18080021-G-C c.465G>C p.E155D Missense 3/3 - 1
8-18080021-G-T c.465G>T p.E155D Missense 3/3 - 1
8-18080025-G-A c.469G>A p.G157R Missense 3/3 - 3
8-18080025-G-C c.469G>C p.G157R Missense 3/3 - 2
8-18080031-T-A c.475T>A p.W159R Missense 3/3 - 2
8-18080031-T-C c.475T>C p.W159R Missense 3/3 - 3
8-18080033-G-C c.477G>C p.W159C Missense 3/3 - 1
8-18080033-G-T c.477G>T p.W159C Missense 3/3 - 1
8-18080037-C-G c.481C>G p.L161V Missense 3/3 - 1
8-18080038-T-C c.482T>C p.L161P Missense 3/3 - 1
8-18080042-C-A c.486C>A p.D162E Missense 3/3 - 1
8-18080042-C-G c.486C>G p.D162E Missense 3/3 - 1
8-18080043-C-T c.487C>T p.Q163* Nonsense 3/3 - 1
8-18080046-A-C c.490A>C p.I164L Missense 3/3 - 1
8-18080055-G-C c.499G>C p.E167Q Missense 3/3 - 1
8-18080059-A-C c.503A>C p.Q168P Missense 3/3 - 2
8-18080059-A-G c.503A>G p.Q168R Missense 3/3 - 1
8-18080060-G-T c.504G>T p.Q168H Missense 3/3 - 1
8-18080061-T-A c.505T>A p.Y169N Missense 3/3 - 2
8-18080076-G-A c.520G>A p.E174K Missense 3/3 - 1
8-18080076-G-T c.520G>T p.E174* Nonsense 3/3 - 2
8-18080079-T-C c.523T>C p.F175L Missense 3/3 - 1
8-18080082-C-A c.526C>A p.L176I Missense 3/3 - 1
8-18080083-T-C c.527T>C p.L176P Missense 3/3 - 1
8-18080085-C-T c.529C>T p.H177Y Missense 3/3 - 3
8-18080093-T-C c.537T>C p.D179= Synonymous 3/3 - 1
8-18080096-C-T c.540C>T p.L180= Synonymous 3/3 - 1
8-18080099-A-G c.543A>G p.L181= Synonymous 3/3 - 1
8-18080100-G-T c.544G>T p.E182* Nonsense 3/3 - 1
8-18080111-A-G c.555A>G p.K185= Synonymous 3/3 - 1
8-18080113-A-T c.557A>T p.Y186F Missense 3/3 - 1
8-18080115-C-T c.559C>T p.R187* Nonsense 3/3 - 35
8-18080116-G-A c.560G>A p.R187Q Missense 3/3 - 52
8-18080120-A-G c.564A>G p.K188= Synonymous 3/3 - 1
8-18080120-A-T c.564A>T p.K188N Missense 3/3 - 1
8-18080123-C-A c.567C>A p.I189= Synonymous 3/3 - 1
8-18080123-C-G c.567C>G p.I189M Missense 3/3 - 1
8-18080124-T-A c.568T>A p.Y190N Missense 3/3 - 1
8-18080124-T-C c.568T>C p.Y190H Missense 3/3 - 4
8-18080126-C-T c.570C>T p.Y190= Synonymous 3/3 - 1
8-18080128-C-G c.572C>G p.S191C Missense 3/3 - 1
8-18080128-C-T c.572C>T p.S191F Missense 3/3 - 3
8-18080129-C-A c.573C>A p.S191= Synonymous 3/3 - 2
8-18080129-C-G c.573C>G p.S191= Synonymous 3/3 - 2
8-18080129-C-T c.573C>T p.S191= Synonymous 3/3 - 2
8-18080134-C-T c.578C>T p.T193I Missense 3/3 - 1
8-18080136-C-G c.580C>G p.L194V Missense 3/3 - 1
8-18080142-C-T c.586C>T p.P196S Missense 3/3 - 1
8-18080145-C-G c.589C>G p.R197G Missense 3/3 - 1
8-18080156-A-C c.600A>C p.E200D Missense 3/3 - 1
8-18080156-A-T c.600A>T p.E200D Missense 3/3 - 1
8-18080167-C-T c.611C>T p.S204F Missense 3/3 - 1
8-18080169-A-G c.613A>G p.M205V Missense 3/3 - 7
8-18080171-G-T c.615G>T p.M205I Missense 3/3 - 1
8-18080175-A-C c.619A>C p.T207P Missense 3/3 - 1
8-18080176-C-A c.620C>A p.T207K Missense 3/3 - 3
8-18080176-C-T c.620C>T p.T207I Missense 3/3 - 9
8-18080179-A-G c.623A>G p.Y208C Missense 3/3 - 1
8-18080181-C-A c.625C>A p.L209M Missense 3/3 - 1
8-18080184-C-G c.628C>G p.Q210E Missense 3/3 - 3
8-18080186-G-C c.630G>C p.Q210H Missense 3/3 - 1
8-18080186-G-T c.630G>T p.Q210H Missense 3/3 - 1
8-18080196-T-G c.640T>G p.S214A Missense 3/3 - 39
8-18080198-A-C c.642A>C p.S214= Synonymous 3/3 - 1
8-18080198-A-G c.642A>G p.S214= Synonymous 3/3 - 1
8-18080198-A-T c.642A>T p.S214= Synonymous 3/3 - 1
8-18080202-G-A c.646G>A p.V216M Missense 3/3 - 3
8-18080209-C-A c.653C>A p.T218N Missense 3/3 - 1
8-18080215-A-T c.659A>T p.K220I Missense 3/3 - 1
8-18080218-C-T c.662C>T p.S221L Missense 3/3 - 3
8-18080227-C-T c.671C>T p.S224F Missense 3/3 - 1
8-18080228-C-A c.672C>A p.S224= Synonymous 3/3 - 1
8-18080228-C-G c.672C>G p.S224= Synonymous 3/3 - 2
8-18080228-C-T c.672C>T p.S224= Synonymous 3/3 - 2
8-18080241-G-A c.685G>A p.D229N Missense 3/3 - 1
8-18080241-G-C c.685G>C p.D229H Missense 3/3 - 1
8-18080246-G-T c.690G>T p.G230= Synonymous 3/3 - 1
8-18080250-C-T c.694C>T p.H232Y Missense 3/3 - 3
8-18080256-TT-AA c.700_701inv p.L234K Missense 3/3 - 1
8-18080256-TT-GC c.700_701delinsGC p.L234A Missense 3/3 - 1
8-18080256-TTG-GAC c.700_702delinsGAC p.L234D Missense 3/3 - 1
8-18080265-T-A c.709T>A p.F237I Missense 3/3 - 1
8-18080269-CC-GG c.713_714inv p.T238R Missense 3/3 - 1
8-18080271-C-T c.715C>T p.L239F Missense 3/3 - 2
8-18080271-CT-AG c.715_716inv p.L239S Missense 3/3 - 1
8-18080272-T-G c.716T>G p.L239R Missense 3/3 - 1
8-18080279-T-A c.723T>A p.H241Q Missense 3/3 - 1
8-18080279-T-G c.723T>G p.H241Q Missense 3/3 - 1
8-18080283-AGA-CAT c.727_729delinsCAT p.R243H Missense 3/3 - 1
8-18080283-AG-GC c.727_728delinsGC p.R243A Missense 3/3 - 1
8-18080284-G-A c.728G>A p.R243K Missense 3/3 - 1
8-18080296-A-G c.740A>G p.K247R Missense 3/3 - 3
8-18080297-G-A c.741G>A p.K247= Synonymous 3/3 - 1
8-18080299-A-G c.743A>G p.D248G Missense 3/3 - 1
8-18080301-A-G c.745A>G p.N249D Missense 3/3 - 1
8-18080307-G-C c.751G>C p.D251H Missense 3/3 - 1
8-18080308-A-T c.752A>T p.D251V Missense 3/3 - 41
8-18080312-A-T c.756A>T p.L252= Synonymous 3/3 - 2
8-18080322-A-C c.766A>C p.K256Q Missense 3/3 - 1
8-18080324-G-A c.768G>A p.K256= Synonymous 3/3 - 1
8-18080327-T-A c.771T>A p.T257= Synonymous 3/3 - 1
8-18080327-T-C c.771T>C p.T257= Synonymous 3/3 - 3
8-18080327-T-G c.771T>G p.T257= Synonymous 3/3 - 1
8-18080331-A-C c.775A>C p.S259R Missense 3/3 - 1
8-18080333-T-A c.777T>A p.S259R Missense 3/3 - 1
8-18080333-T-C c.777T>C p.S259= Synonymous 3/3 - 11
8-18080333-T-G c.777T>G p.S259R Missense 3/3 - 7
8-18080337-G-A c.781G>A p.E261K Missense 3/3 - 9
8-18080338-A-T c.782A>T p.E261V Missense 3/3 - 1
8-18080340-G-T c.784G>T p.E262* Nonsense 3/3 - 1
8-18080343-A-G c.787A>G p.I263V Missense 3/3 - 7
8-18080346-G-A c.790G>A p.E264K Missense 3/3 - 1
8-18080346-G-C c.790G>C p.E264Q Missense 3/3 - 1
8-18080347-A-C c.791A>C p.E264A Missense 3/3 - 1
8-18080348-A-C c.792A>C p.E264D Missense 3/3 - 1
8-18080348-A-T c.792A>T p.E264D Missense 3/3 - 1
8-18080349-A-T c.793A>T p.K265* Nonsense 3/3 - 1
8-18080352-G-A c.796G>A p.V266M Missense 3/3 - 1
8-18080352-GTG-ATC c.796_798delinsATC p.V266I Missense 3/3 - 1
8-18080358-A-C c.802A>C p.K268Q Missense 3/3 - 1
8-18080359-A-G c.803A>G p.K268R Missense 3/3 - 32
8-18080360-A-G c.804A>G p.K268= Synonymous 3/3 - 1
8-18080373-A-T c.817A>T p.I273F Missense 3/3 - 1
8-18080374-T-G c.818T>G p.I273S Missense 3/3 - 1
8-18080377-C-T c.821C>T p.S274F Missense 3/3 - 7
8-18080384-G-C c.828G>C p.Q276H Missense 3/3 - 1
8-18080384-G-T c.828G>T p.Q276H Missense 3/3 - 1
8-18080390-G-T c.834G>T p.K278N Missense 3/3 - 1
8-18080392-T-G c.836T>G p.L279R Missense 3/3 - 1
8-18080394-G-C c.838G>C p.V280L Missense 3/3 - 2
8-18080399-C-A c.843C>A p.P281= Synonymous 3/3 - 1
8-18080406-G-C c.850G>C p.G284R Missense 3/3 - 1
8-18080409-G-T c.853G>T p.D285Y Missense 3/3 - 1
8-18080414-A-AT c.864dup p.T289Yfs*5 Frameshift 3/3 - 1
8-18080420-T-C c.864T>C p.F288= Synonymous 3/3 - 3
8-18080421-A-G c.865A>G p.T289A Missense 3/3 - 1
8-18080440-A-C c.*11A>C - 3-UTRSNV 3/3 - 9
8-18080440-A-G c.*11A>G - 3-UTRSNV 3/3 - 9
8-18080440-A-T c.*11A>T - 3-UTRSNV 3/3 - 9
8-18080487-C-G c.*58C>G - 3-UTRSNV 3/3 - 4
8-18080487-C-T c.*58C>T - 3-UTRSNV 3/3 - 4
8-18080644-A-T c.*215A>T - 3-UTRSNV 3/3 - 38
8-18080651-A-C c.*222A>C - 3-UTRSNV 3/3 - 45
8-18080747-T-G c.*318T>G - 3-UTRSNV 3/3 - 17
8-18080792-A-G c.*363A>G - 3-UTRSNV 3/3 - 1
8-18080833-A-G c.*404A>G - 3-UTRSNV 3/3 - 4
8-18080901-C-G c.*472C>G - 3-UTRSNV 3/3 - 5
8-18080923-G-A c.*494G>A - 3-UTRSNV 3/3 - 4
8-18080933-C-T c.*504C>T - 3-UTRSNV 3/3 - 6
8-18081010-C-T c.*581C>T - 3-UTRSNV 3/3 - 1
8-18081198-A-C c.*769A>C - 3-UTRSNV 3/3 - 1
8-18081198-A-G c.*769A>G - 3-UTRSNV 3/3 - 1