COMT

COMT catechol-O-methyltransferase

Annotation transcript: NM_000754.4

642 unique variant annotations were identified in 1264 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
22-19929519-G-A c.-92+99G>A - intron_variant - 1/5 1
22-19929551-A-G c.-92+131A>G - intron_variant - 1/5 6
22-19929937-C-A c.-92+517C>A - intron_variant - 1/5 1
22-19929937-C-T c.-92+517C>T - intron_variant - 1/5 1
22-19930002-C-A c.-92+582C>A - intron_variant - 1/5 1
22-19930002-C-G c.-92+582C>G - intron_variant - 1/5 1
22-19930014-G-A c.-92+594G>A - intron_variant - 1/5 1
22-19930014-G-T c.-92+594G>T - intron_variant - 1/5 1
22-19930017-G-C c.-92+597G>C - intron_variant - 1/5 1
22-19930109-T-A c.-92+689T>A - intron_variant - 1/5 29
22-19930109-T-C c.-92+689T>C - intron_variant - 1/5 29
22-19930121-A-G c.-92+701A>G - intron_variant - 1/5 121
22-19930159-C-T c.-92+739C>T - intron_variant - 1/5 4
22-19931407-T-A c.-92+1987T>A - intron_variant - 1/5 32
22-19931407-T-C c.-92+1987T>C - intron_variant - 1/5 32
22-19931668-A-G c.-92+2248A>G - intron_variant - 1/5 26
22-19931853-C-T c.-92+2433C>T - intron_variant - 1/5 1
22-19931932-G-A c.-92+2512G>A - intron_variant - 1/5 1
22-19931976-T-C c.-92+2556T>C - intron_variant - 1/5 4
22-19933048-T-G c.-92+3628T>G - intron_variant - 1/5 4
22-19933778-C-A c.-92+4358C>A - intron_variant - 1/5 2
22-19933778-C-G c.-92+4358C>G - intron_variant - 1/5 2
22-19934025-A-G c.-92+4605A>G - intron_variant - 1/5 4
22-19934025-A-T c.-92+4605A>T - intron_variant - 1/5 4
22-19934051-T-C c.-92+4631T>C - intron_variant - 1/5 14
22-19934821-C-A c.-92+5401C>A - intron_variant - 1/5 1
22-19934821-C-T c.-92+5401C>T - intron_variant - 1/5 1
22-19934850-A-G c.-92+5430A>G - intron_variant - 1/5 2
22-19934983-G-A c.-92+5563G>A - intron_variant - 1/5 1
22-19934999-T-C c.-92+5579T>C - intron_variant - 1/5 5
22-19935148-T-C c.-92+5728T>C - intron_variant - 1/5 1
22-19935267-A-G c.-92+5847A>G - intron_variant - 1/5 1
22-19935494-G-A c.-92+6074G>A - intron_variant - 1/5 1
22-19935607-G-T c.-92+6187G>T - intron_variant - 1/5 1
22-19936197-G-A c.-92+6777G>A - intron_variant - 1/5 1
22-19936446-C-T c.-92+7026C>T - intron_variant - 1/5 1
22-19937533-T-C c.-92+8113T>C - intron_variant - 1/5 18
22-19937533-T-G c.-92+8113T>G - intron_variant - 1/5 18
22-19937638-T-G c.-92+8218T>G - intron_variant - 1/5 28
22-19937649-A-T c.-92+8229A>T - intron_variant - 1/5 1
22-19937703-A-G c.-92+8283A>G - intron_variant - 1/5 1
22-19937703-A-T c.-92+8283A>T - intron_variant - 1/5 1
22-19938091-C-T c.-92+8671C>T - intron_variant - 1/5 1
22-19938611-G-A c.-92+9191G>A - intron_variant - 1/5 1
22-19938617-G-A c.-92+9197G>A - intron_variant - 1/5 1
22-19938617-G-T c.-92+9197G>T - intron_variant - 1/5 1
22-19938658-G-A c.-92+9238G>A - intron_variant - 1/5 1
22-19938709-C-T c.-92+9289C>T - intron_variant - 1/5 3
22-19938710-A-G c.-92+9290A>G - intron_variant - 1/5 2
22-19938710-A-T c.-92+9290A>T - intron_variant - 1/5 2
22-19938759-A-G c.-92+9339A>G - intron_variant - 1/5 2
22-19938806-C-G c.-92+9386C>G - intron_variant - 1/5 1
22-19938806-C-T c.-92+9386C>T - intron_variant - 1/5 1
22-19938835-T-C c.-92+9415T>C - intron_variant - 1/5 1
22-19938837-A-C c.-92+9417A>C - intron_variant - 1/5 1
22-19938837-A-G c.-92+9417A>G - intron_variant - 1/5 1
22-19938837-A-T c.-92+9417A>T - intron_variant - 1/5 1
22-19938860-C-T c.-92+9440C>T - intron_variant - 1/5 1
22-19938880-C-A c.-92+9460C>A - intron_variant - 1/5 1
22-19938880-C-T c.-92+9460C>T - intron_variant - 1/5 1
22-19939353-A-G c.-91-9369A>G - intron_variant - 1/5 1
22-19939432-G-A c.-91-9290G>A - intron_variant - 1/5 1
22-19939639-A-G c.-91-9083A>G - intron_variant - 1/5 1
22-19939850-G-A c.-91-8872G>A - intron_variant - 1/5 1
22-19939862-C-A c.-91-8860C>A - intron_variant - 1/5 1
22-19939900-T-C c.-91-8822T>C - intron_variant - 1/5 1
22-19939918-T-A c.-91-8804T>A - intron_variant - 1/5 1
22-19940027-G-C c.-91-8695G>C - intron_variant - 1/5 1
22-19940036-G-A c.-91-8686G>A - intron_variant - 1/5 1
22-19940036-G-T c.-91-8686G>T - intron_variant - 1/5 1
22-19940182-C-A c.-91-8540C>A - intron_variant - 1/5 1
22-19940242-G-A c.-91-8480G>A - intron_variant - 1/5 1
22-19940242-G-C c.-91-8480G>C - intron_variant - 1/5 1
22-19939096-G-A c.-91-9626G>A - IntronicSNV - 1/5 4
22-19940333-G-A c.-91-9626G>A - IntronicSNV - 1/5 1
22-19940583-G-A c.-91-8139G>A - intron_variant - 1/5 1
22-19940661-C-G c.-91-8061C>G - intron_variant - 1/5 2
22-19940661-C-T c.-91-8061C>T - intron_variant - 1/5 2
22-19940841-T-G c.-91-7881T>G - intron_variant - 1/5 1
22-19940930-C-T c.-91-9029C>T - IntronicSNV - 1/5 1
22-19941004-A-G c.-91-7718A>G - intron_variant - 1/5 1
22-19941004-A-T c.-91-7718A>T - intron_variant - 1/5 1
22-19941426-A-G c.-91-8533A>G - IntronicSNV - 1/5 1
22-19941490-G-C c.-91-7232G>C - intron_variant - 1/5 1
22-19941495-G-A c.-91-7227G>A - intron_variant - 1/5 1
22-19941507-A-G c.-91-7215A>G - intron_variant - 1/5 2
22-19941880-T-C c.-91-8079T>C - IntronicSNV - 1/5 1
22-19941947-C-T c.-91-6775C>T - intron_variant - 1/5 5
22-19942484-C-T c.-91-6238C>T - intron_variant - 1/5 2
22-19942581-G-A c.-91-7378G>A - IntronicSNV - 1/5 1
22-19942581-G-C c.-91-7378G>C - IntronicSNV - 1/5 1
22-19942680-C-A c.-91-6042C>A - intron_variant - 1/5 8
22-19942680-C-G c.-91-6042C>G - intron_variant - 1/5 8
22-19942748-G-A c.-91-7211G>A - IntronicSNV - 1/5 1
22-19942791-G-A c.-91-5931G>A - intron_variant - 1/5 1
22-19942940-C-T c.-91-7019C>T - IntronicSNV - 1/5 1
22-19942985-C-A c.-91-5737C>A - intron_variant - 1/5 1
22-19942985-C-T c.-91-5737C>T - intron_variant - 1/5 1
22-19942997-A-G c.-91-5725A>G - intron_variant - 1/5 8
22-19943006-G-A c.-91-5716G>A - intron_variant - 1/5 1
22-19943036-G-C c.-91-6923G>C - IntronicSNV - 1/5 1
22-19943121-G-A c.-91-5601G>A - intron_variant - 1/5 1
22-19943254-A-C c.-91-5468A>C - intron_variant - 1/5 1
22-19943254-A-G c.-91-5468A>G - intron_variant - 1/5 1
22-19943413-A-G c.-91-6546A>G - IntronicSNV - 1/5 1
22-19943413-A-T c.-91-6546A>T - IntronicSNV - 1/5 1
22-19943425-C-T c.-91-5297C>T - intron_variant - 1/5 1
22-19943443-C-A c.-91-6516C>A - IntronicSNV - 1/5 1
22-19944323-G-A c.-91-4399G>A - intron_variant - 1/5 1
22-19944496-C-T c.-91-4226C>T - intron_variant - 1/5 1
22-19944560-G-A c.-91-4162G>A - intron_variant - 1/5 2
22-19944560-G-C c.-91-4162G>C - intron_variant - 1/5 2
22-19944722-C-T c.-91-4000C>T - intron_variant - 1/5 1
22-19944723-C-T c.-91-3999C>T - intron_variant - 1/5 1
22-19945177-A-G c.-91-3545A>G - intron_variant - 1/5 54
22-19946159-T-C c.-91-3800T>C - IntronicSNV - 1/5 1
22-19946308-G-A c.-91-2414G>A - intron_variant - 1/5 1
22-19946308-G-C c.-91-2414G>C - intron_variant - 1/5 1
22-19946308-G-T c.-91-2414G>T - intron_variant - 1/5 1
22-19946564-G-A c.-91-3395G>A - IntronicSNV - 1/5 1
22-19946564-G-C c.-91-3395G>C - IntronicSNV - 1/5 1
22-19946570-C-T c.-91-3389C>T - IntronicSNV - 1/5 1
22-19946763-C-G c.-91-1959C>G - intron_variant - 1/5 1
22-19947009-C-G c.-91-2950C>G - IntronicSNV - 1/5 1
22-19947009-C-T c.-91-2950C>T - IntronicSNV - 1/5 1
22-19947325-C-T c.-91-1397C>T - intron_variant - 1/5 1
22-19947347-G-C c.-91-1375G>C - intron_variant - 1/5 2
22-19947389-G-A c.-91-1333G>A - intron_variant - 1/5 1
22-19947389-G-T c.-91-1333G>T - intron_variant - 1/5 1
22-19947469-C-T c.-91-1253C>T - intron_variant - 1/5 1
22-19947773-C-T c.-91-949C>T - intron_variant - 1/5 1
22-19947942-C-A c.-91-780C>A - intron_variant - 1/5 3
22-19946897-A-C c.-91-1825A>C - IntronicSNV - 1/5 1
22-19946897-A-T c.-91-1825A>T - IntronicSNV - 1/5 1
22-19948134-A-C c.-91-1825A>C - IntronicSNV - 1/5 1
22-19948134-A-T c.-91-1825A>T - IntronicSNV - 1/5 1
22-19948262-A-C c.-91-1697A>C - IntronicSNV - 1/5 1
22-19948337-T-C c.-91-385T>C - intron_variant - 1/5 43
22-19948583-G-A c.-91-1376G>A - IntronicSNV - 1/5 1
22-19948863-G-A c.-1+51G>A - intron_variant - 2/5 19
22-19948863-G-C c.-1+51G>C - intron_variant - 2/5 19
22-19948863-G-T c.-1+51G>T - intron_variant - 2/5 19
22-19948868-G-A c.-1+56G>A - intron_variant - 2/5 1
22-19949013-C-T c.-1+201C>T - intron_variant - 2/5 24
22-19949103-G-A c.-1+291G>A - intron_variant - 2/5 1
22-19949213-G-A c.-1+401G>A - intron_variant - 2/5 1
22-19949644-G-C c.1-406G>C - IntronicSNV - 2/5 3
22-19949747-T-C c.1-303T>C - IntronicSNV - 2/5 3
22-19949952-A-G c.1-98A>G - IntronicSNV - 2/5 169
22-19948742-C-G c.-71C>G - IntronicSNV 2/6 - 1
22-19950020-C-T c.1-30C>T - IntronicSNV - 2/5 1
22-19950032-T-C c.1-18T>C - IntronicSNV - 2/5 1
22-19950040-C-T c.1-10C>T - IntronicSNV - 2/5 1
22-19950052-G-A c.3G>A p.M1? Missense 3/6 - 3
22-19950052-G-C c.3G>C p.M1? Missense 3/6 - 2
22-19950052-G-T c.3G>T p.M1? Missense 3/6 - 2
22-19950053-CC-TG c.4_5delinsTG p.P2W Missense 3/6 - 1
22-19950054-C-A c.5C>A p.P2Q Missense 3/6 - 1
22-19950055-G-A c.6G>A p.P2= Synonymous 3/6 - 4
22-19950055-G-C c.6G>C p.P2= Synonymous 3/6 - 4
22-19950055-G-T c.6G>T p.P2= Synonymous 3/6 - 4
22-19950056-G-A c.7G>A p.E3K Missense 3/6 - 1
22-19950057-A-G c.8A>G p.E3G Missense 3/6 - 1
22-19950058-G-A c.9G>A p.E3= Synonymous 3/6 - 2
22-19950059-G-A c.10G>A p.A4T Missense 3/6 - 1
22-19950061-C-A c.12C>A p.A4= Synonymous 3/6 - 3
22-19950061-C-G c.12C>G p.A4= Synonymous 3/6 - 3
22-19950061-C-T c.12C>T p.A4= Synonymous 3/6 - 3
22-19950062-CC-GG c.13_14inv p.P5G Missense 3/6 - 1
22-19950062-CC-GT c.13_14delinsGT p.P5V Missense 3/6 - 1
22-19950062-C-T c.13C>T p.P5S Missense 3/6 - 1
22-19950063-C-T c.14C>T p.P5L Missense 3/6 - 1
22-19950064-G-A c.15G>A p.P5= Synonymous 3/6 - 2
22-19950064-G-C c.15G>C p.P5= Synonymous 3/6 - 2
22-19950064-G-T c.15G>T p.P5= Synonymous 3/6 - 2
22-19950067-T-A c.18T>A p.P6= Synonymous 3/6 - 1
22-19950067-T-C c.18T>C p.P6= Synonymous 3/6 - 1
22-19950067-T-G c.18T>G p.P6= Synonymous 3/6 - 1
22-19950068-C-G c.19C>G p.L7V Missense 3/6 - 1
22-19950068-CTG-ATC c.19_21delinsATC p.L7I Missense 3/6 - 1
22-19950071-CT-GA c.22_23delinsGA p.L8E Missense 3/6 - 1
22-19950072-T-C c.23T>C p.L8P Missense 3/6 - 1
22-19950072-T-G c.23T>G p.L8R Missense 3/6 - 1
22-19950074-T-C c.25T>C p.L9= Synonymous 3/6 - 1
22-19950076-G-A c.27G>A p.L9= Synonymous 3/6 - 1
22-19950077-G-A c.28G>A p.A10T Missense 3/6 - 1
22-19950077-GCA-TGT c.28_30delinsTGT p.A10C Missense 3/6 - 1
22-19950077-G-T c.28G>T p.A10S Missense 3/6 - 1
22-19950078-C-A c.29C>A p.A10E Missense 3/6 - 1
22-19950078-C-T c.29C>T p.A10V Missense 3/6 - 1
22-19950079-A-C c.30A>C p.A10= Synonymous 3/6 - 3
22-19950079-A-G c.30A>G p.A10= Synonymous 3/6 - 2
22-19950079-A-T c.30A>T p.A10= Synonymous 3/6 - 2
22-19950080-GC-CA c.31_32delinsCA p.A11H Missense 3/6 - 1
22-19950080-GC-TA c.31_32delinsTA p.A11Y Missense 3/6 - 1
22-19950081-C-G c.32C>G p.A11G Missense 3/6 - 1
22-19950081-CT-AG c.32_33inv p.A11E Missense 3/6 - 3
22-19950086-TT-GC c.37_38delinsGC p.L13A Missense 3/6 - 2
22-19950089-C-A c.40C>A p.L14M Missense 3/6 - 1
22-19950092-G-C c.43G>C p.G15R Missense 3/6 - 1
22-19950096-T-C c.47T>C p.L16P Missense 3/6 - 1
22-19950098-G-A c.49G>A p.V17M Missense 3/6 - 3
22-19950098-G-C c.49G>C p.V17L Missense 3/6 - 1
22-19950098-G-T c.49G>T p.V17L Missense 3/6 - 1
22-19950106-G-C c.57G>C p.L19= Synonymous 3/6 - 1
22-19950095-CTGGTGCTGCTGG-C c.58_69del p.V20_L23del InFrameDeletion 3/6 - 1
22-19950107-GTG-ATC c.58_60delinsATC p.V20I Missense 3/6 - 1
22-19950108-T-C c.59T>C p.V20A Missense 3/6 - 1
22-19950110-G-A c.61G>A p.V21M Missense 3/6 - 1
22-19950113-C-G c.64C>G p.L22V Missense 3/6 - 1
22-19950113-CT-GA c.64_65delinsGA p.L22E Missense 3/6 - 1
22-19950116-CTG-TTT c.67_69delinsTTT p.L23F Missense 3/6 - 1
22-19950124-T-A c.75T>A p.L25= Synonymous 3/6 - 1
22-19950124-T-C c.75T>C p.L25= Synonymous 3/6 - 1
22-19950124-T-G c.75T>G p.L25= Synonymous 3/6 - 1
22-19950125-C-A c.76C>A p.L26M Missense 3/6 - 1
22-19950127-G-GT c.78_79insT p.R27* Nonsense 3/6 - 1
22-19950128-A-G c.79A>G p.R27G Missense 3/6 - 1
22-19950128-AG-CC c.79_80delinsCC p.R27P Missense 3/6 - 1
22-19950128-AG-GC c.79_80delinsGC p.R27A Missense 3/6 - 1
22-19950129-G-A c.80G>A p.R27K Missense 3/6 - 1
22-19950136-G-A c.87G>A p.W29* Nonsense 3/6 - 1
22-19950142-G-A c.93G>A p.W31* Nonsense 3/6 - 1
22-19950143-G-A c.94G>A p.G32S Missense 3/6 - 1
22-19950145-C-A c.96C>A p.G32= Synonymous 3/6 - 1
22-19950145-C-G c.96C>G p.G32= Synonymous 3/6 - 1
22-19950145-C-T c.96C>T p.G32= Synonymous 3/6 - 2
22-19950147-T-C c.98T>C p.L33P Missense 3/6 - 2
22-19950149-T-A c.100T>A p.C34S Missense 3/6 - 1
22-19950149-T-G c.100T>G p.C34G Missense 3/6 - 1
22-19950150-G-C c.101G>C p.C34S Missense 3/6 - 7
22-19950156-T-C c.107T>C p.I36T Missense 3/6 - 1
22-19950158-GG-CT c.109_110delinsCT p.G37L Missense 3/6 - 1
22-19950159-G-C c.110G>C p.G37A Missense 3/6 - 1
22-19950161-T-A c.112T>A p.W38R Missense 3/6 - 1
22-19950161-T-C c.112T>C p.W38R Missense 3/6 - 1
22-19950161-TG-AA c.112_113delinsAA p.W38K Missense 3/6 - 1
22-19950161-TG-GC c.112_113delinsGC p.W38A Missense 3/6 - 2
22-19950161-TGG-CAT c.112_114delinsCAT p.W38H Missense 3/6 - 1
22-19950161-TGG-GAC c.112_114delinsGAC p.W38D Missense 3/6 - 1
22-19950161-TG-GT c.112_113delinsGT p.W38V Missense 3/6 - 1
22-19950162-G-A c.113G>A p.W38* Nonsense 3/6 - 4
22-19950162-GG-AT c.113_114delinsAT p.W38Y Missense 3/6 - 1
22-19950162-GG-TT c.113_114delinsTT p.W38F Missense 3/6 - 1
22-19950162-G-T c.113G>T p.W38L Missense 3/6 - 1
22-19950164-A-G c.115A>G p.N39D Missense 3/6 - 4
22-19950166-C-A c.117C>A p.N39K Missense 3/6 - 3
22-19950166-C-G c.117C>G p.N39K Missense 3/6 - 3
22-19950166-C-T c.117C>T p.N39= Synonymous 3/6 - 6
22-19950169-G-C c.120G>C p.E40D Missense 3/6 - 1
22-19950169-G-T c.120G>T p.E40D Missense 3/6 - 1
22-19950171-T-C c.122T>C p.F41S Missense 3/6 - 1
22-19950176-C-G c.127C>G p.L43V Missense 3/6 - 1
22-19950176-CTG-ATC c.127_129delinsATC p.L43I Missense 3/6 - 1
22-19950183-C-T c.134C>T p.P45L Missense 3/6 - 1
22-19950187-C-G c.138C>G p.I46M Missense 3/6 - 1
22-19950188-C-T c.139C>T p.H47Y Missense 3/6 - 1
22-19950189-A-G c.140A>G p.H47R Missense 3/6 - 7
22-19950190-C-T c.141C>T p.H47= Synonymous 3/6 - 1
22-19950200-A-G c.151A>G p.M51V Missense 3/6 - 1
22-19950200-AT-GC c.151_152delinsGC p.M51A Missense 3/6 - 2
22-19950201-T-C c.152T>C p.M51T Missense 3/6 - 1
22-19950203-G-A c.154G>A p.G52S Missense 3/6 - 1
22-19950206-G-A c.157G>A p.D53N Missense 3/6 - 1
22-19950207-A-T c.158A>T p.D53V Missense 3/6 - 1
22-19950211-C-A c.162C>A p.T54= Synonymous 3/6 - 1
22-19950211-C-G c.162C>G p.T54= Synonymous 3/6 - 1
22-19950211-C-T c.162C>T p.T54= Synonymous 3/6 - 1
22-19950218-C-A c.169C>A p.Q57K Missense 3/6 - 1
22-19950218-C-G c.169C>G p.Q57E Missense 3/6 - 1
22-19950219-A-G c.170A>G p.Q57R Missense 3/6 - 1
22-19950219-A-T c.170A>T p.Q57L Missense 3/6 - 1
22-19950221-C-G c.172C>G p.R58G Missense 3/6 - 1
22-19950221-C-T c.172C>T p.R58C Missense 3/6 - 2
22-19950226-C-T c.177C>T p.I59= Synonymous 3/6 - 3
22-19950227-CTG-TTT c.178_180delinsTTT p.L60F Missense 3/6 - 1
22-19950228-T-C c.179T>C p.L60P Missense 3/6 - 1
22-19950233-C-T c.184C>T p.H62Y Missense 3/6 - 1
22-19950235-C-T c.186C>T p.H62= Synonymous 3/6 - 245
22-19950236-G-A c.187G>A p.V63M Missense 3/6 - 1
22-19950236-GTG-AAC c.187_189delinsAAC p.V63N Missense 3/6 - 1
22-19950239-C-T c.190C>T p.L64= Synonymous 3/6 - 1
22-19950240-T-TG c.192dup p.Q65Afs*16 Frameshift 3/6 - 1
22-19950241-G-A c.192G>A p.L64= Synonymous 3/6 - 1
22-19950241-G-C c.192G>C p.L64= Synonymous 3/6 - 1
22-19950241-G-T c.192G>T p.L64= Synonymous 3/6 - 1
22-19950247-T-A c.198T>A p.H66Q Missense 3/6 - 1
22-19950247-T-G c.198T>G p.H66Q Missense 3/6 - 1
22-19950248-G-A c.199G>A p.A67T Missense 3/6 - 2
22-19950248-GCG-TGT c.199_201delinsTGT p.A67C Missense 3/6 - 1
22-19950248-TG-T c.199del p.A67Rfs*24 Frameshift 3/6 - 1
22-19950249-C-G c.200C>G p.A67G Missense 3/6 - 1
22-19950249-C-T c.200C>T p.A67V Missense 3/6 - 1
22-19950250-G-A c.201G>A p.A67= Synonymous 3/6 - 3
22-19950250-G-C c.201G>C p.A67= Synonymous 3/6 - 1
22-19950250-G-T c.201G>T p.A67= Synonymous 3/6 - 1
22-19950253-G-C c.204G>C p.E68D Missense 3/6 - 1
22-19950253-G-T c.204G>T p.E68D Missense 3/6 - 1
22-19950255-C-G c.206C>G p.P69R Missense 3/6 - 1
22-19950253-G-GC c.207dup p.G70Rfs*11 Frameshift 3/6 - 1
22-19950256-C-G c.207C>G p.P69= Synonymous 3/6 - 1
22-19950256-C-T c.207C>T p.P69= Synonymous 3/6 - 1
22-19950255-CCGGGAACG-C c.208_215del p.G70Tfs*8 Frameshift 3/6 - 1
22-19950257-G-A c.208G>A p.G70R Missense 3/6 - 1
22-19950257-G-T c.208G>T p.G70W Missense 3/6 - 2
22-19950262-C-G c.213C>G p.N71K Missense 3/6 - 1
22-19950263-G-A c.214G>A p.A72T Missense 3/6 - 46
22-19950263-G-T c.214G>T p.A72S Missense 3/6 - 74
22-19950266-C-T c.217C>T p.Q73* Nonsense 3/6 - 1
22-19950268-G-A c.219G>A p.Q73= Synonymous 3/6 - 14
22-19950272-G-A c.223G>A p.V75M Missense 3/6 - 1
22-19950279-A-G c.230A>G p.E77G Missense 3/6 - 1
22-19950281-GCC-AAG c.232_234delinsAAG p.A78K Missense 3/6 - 2
22-19950281-G-T c.232G>T p.A78S Missense 3/6 - 1
22-19950282-C-A c.233C>A p.A78D Missense 3/6 - 2
22-19950285-T-C c.236T>C p.I79T Missense 3/6 - 1
22-19950290-A-G c.241A>G p.T81A Missense 3/6 - 1
22-19950294-A-G c.245A>G p.Y82C Missense 3/6 - 2
22-19950294-A-T c.245A>T p.Y82F Missense 3/6 - 1
22-19950296-T-C c.247T>C p.C83R Missense 3/6 - 1
22-19950299-G-A c.250G>A p.E84K Missense 3/6 - 4
22-19950299-G-T c.250G>T p.E84* Nonsense 3/6 - 1
22-19950301-G-A c.252G>A p.E84= Synonymous 3/6 - 1
22-19950310-G-A c.261G>A p.E87= Synonymous 3/6 - 1
22-19950314-GC-TG c.265_266delinsTG p.A89C Missense 3/6 - 3
22-19950315-C-T c.266C>T p.A89V Missense 3/6 - 1
22-19950317-A-G c.268A>G p.M90V Missense 3/6 - 1
22-19950320-A-C c.271A>C p.N91H Missense 3/6 - 1
22-19950323-G-A c.274G>A p.V92M Missense 3/6 - 4
22-19950324-T-G c.275T>G p.V92G Missense 3/6 - 1
22-19950327-G-A c.278G>A p.G93D Missense 3/6 - 2
22-19950327-G-C c.278G>C p.G93A Missense 3/6 - 13
22-19950331-C-T c.282C>T p.D94= Synonymous 3/6 - 1
22-19950334-G-A c.285G>A p.K95= Synonymous 3/6 - 1
22-19950334-G-C c.285G>C p.K95N Missense 3/6 - 1
22-19950334-G-T c.285G>T p.K95N Missense 3/6 - 1
22-19950338-AGGTGGGGTCCGGGCC-A c.289_289+14del - SpliceDonorDeletion 3/6 3/5 1
22-19950347-C-T c.289+9C>T - IntronicSNV - 3/5 2
22-19950355-C-T c.289+17C>T - IntronicSNV - 3/5 1
22-19950428-A-G c.289+90A>G - IntronicSNV - 3/5 32
22-19950763-T-G c.290-326T>G - IntronicSNV - 3/5 8
22-19951093-G-A c.294G>A p.K98= Synonymous 4/6 - 3
22-19951097-G-C c.298G>C p.V100L Missense 4/6 - 1
22-19951097-G-T c.298G>T p.V100L Missense 4/6 - 1
22-19951101-A-G c.302A>G p.D101G Missense 4/6 - 1
22-19951103-G-A c.304G>A p.A102T Missense 4/6 - 18
22-19951106-G-A c.307G>A p.V103M Missense 4/6 - 1
22-19951106-GTG-ATC c.307_309delinsATC p.V103I Missense 4/6 - 2
22-19951109-A-G c.310A>G p.I104V Missense 4/6 - 2
22-19951112-C-T c.313C>T p.Q105* Nonsense 4/6 - 2
22-19951116-A-G c.317A>G p.E106G Missense 4/6 - 2
22-19951119-A-G c.320A>G p.H107R Missense 4/6 - 4
22-19951119-A-T c.320A>T p.H107L Missense 4/6 - 1
22-19951127-TC-GG c.328_329delinsGG p.S110G Missense 4/6 - 1
22-19951128-C-T c.329C>T p.S110F Missense 4/6 - 2
22-19951129-C-A c.330C>A p.S110= Synonymous 4/6 - 1
22-19951129-C-G c.330C>G p.S110= Synonymous 4/6 - 1
22-19951129-C-T c.330C>T p.S110= Synonymous 4/6 - 1
22-19951142-C-T c.343C>T p.L115= Synonymous 4/6 - 1
22-19951143-TG-T c.349del p.A117Pfs*42 Frameshift 4/6 - 2
22-19951148-G-A c.349G>A p.A117T Missense 4/6 - 1
22-19951153-C-T c.354C>T p.Y118= Synonymous 4/6 - 1
22-19951159-C-T c.360C>T p.G120= Synonymous 4/6 - 2
22-19951162-C-A c.363C>A p.Y121* Nonsense 4/6 - 2
22-19951162-C-G c.363C>G p.Y121* Nonsense 4/6 - 2
22-19951164-C-T c.365C>T p.S122L Missense 4/6 - 3
22-19951167-C-T c.368C>T p.A123V Missense 4/6 - 1
22-19951168-T-A c.369T>A p.A123= Synonymous 4/6 - 1
22-19951168-T-C c.369T>C p.A123= Synonymous 4/6 - 1
22-19951168-T-G c.369T>G p.A123= Synonymous 4/6 - 1
22-19951170-T-C c.371T>C p.V124A Missense 4/6 - 1
22-19951172-C-T c.373C>T p.R125C Missense 4/6 - 3
22-19951173-G-A c.374G>A p.R125H Missense 4/6 - 1
22-19951174-C-T c.375C>T p.R125= Synonymous 4/6 - 1
22-19951181-CG-GC c.382_383delinsGC p.R128A Missense 4/6 - 1
22-19951182-G-A c.383G>A p.R128H Missense 4/6 - 4
22-19951188-T-C c.389T>C p.L130P Missense 4/6 - 1
22-19951192-A-G c.393A>G p.S131= Synonymous 4/6 - 1
22-19951194-CA-AT c.395_396delinsAT p.P132H Missense 4/6 - 1
22-19951195-A-C c.396A>C p.P132= Synonymous 4/6 - 1
22-19951200-C-T c.401C>T p.A134V Missense 4/6 - 1
22-19951201-G-A c.402G>A p.A134= Synonymous 4/6 - 3
22-19951202-A-T c.403A>T p.R135W Missense 4/6 - 2
22-19951205-C-T c.406C>T p.L136F Missense 4/6 - 1
22-19951205-CT-TA c.406_407delinsTA p.L136Y Missense 4/6 - 1
22-19951207-C-A c.408C>A p.L136= Synonymous 4/6 - 18
22-19951207-C-G c.408C>G p.L136= Synonymous 4/6 - 253
22-19951207-C-T c.408C>T p.L136= Synonymous 4/6 - 251
22-19951208-A-G c.409A>G p.I137V Missense 4/6 - 1
22-19951209-T-C c.410T>C p.I137T Missense 4/6 - 1
22-19951212-C-T c.413C>T p.T138I Missense 4/6 - 2
22-19951216-C-G c.417C>G p.I139M Missense 4/6 - 1
22-19951216-C-T c.417C>T p.I139= Synonymous 4/6 - 1
22-19951219-AGAT-A c.420_422del p.E140_I141delinsD MultiAAMissense 4/6 - 1
22-19951220-A-C c.421A>C p.I141L Missense 4/6 - 2
22-19951220-A-G c.421A>G p.I141V Missense 4/6 - 2
22-19951222-C-G c.423C>G p.I141M Missense 4/6 - 1
22-19951223-A-G c.424A>G p.N142D Missense 4/6 - 1
22-19951227-C-G c.428C>G p.P143R Missense 4/6 - 2
22-19951227-C-T c.428C>T p.P143L Missense 4/6 - 1
22-19951226-CCCGACTGTG-C c.431_439del p.D144_A146del InFrameDeletion 4/6 - 1
22-19951230-A-C c.431A>C p.D144A Missense 4/6 - 1
22-19951230-A-G c.431A>G p.D144G Missense 4/6 - 1
22-19951232-TG-GC c.433_434delinsGC p.C145A Missense 4/6 - 1
22-19951234-T-C c.435T>C p.C145= Synonymous 4/6 - 1
22-19951236-CC-AG c.437_438delinsAG p.A146E Missense 4/6 - 1
22-19951236-C-T c.437C>T p.A146V Missense 4/6 - 6
22-19951237-C-A c.438C>A p.A146= Synonymous 4/6 - 1
22-19951237-C-G c.438C>G p.A146= Synonymous 4/6 - 1
22-19951237-C-T c.438C>T p.A146= Synonymous 4/6 - 8
22-19951238-G-A c.439G>A p.A147T Missense 4/6 - 3
22-19951245-CC-TG c.446_447delinsTG p.T149M Missense 4/6 - 1
22-19951245-C-T c.446C>T p.T149I Missense 4/6 - 1
22-19951247-C-A c.448C>A p.Q150K Missense 4/6 - 1
22-19951250-CG-GC c.451_452delinsGC p.R151A Missense 4/6 - 1
22-19951256-G-A c.457G>A p.V153M Missense 4/6 - 2
22-19951267-T-A c.468T>A p.A156= Synonymous 4/6 - 1
22-19951267-T-C c.468T>C p.A156= Synonymous 4/6 - 1
22-19951267-T-G c.468T>G p.A156= Synonymous 4/6 - 1
22-19951269-G-C c.470G>C p.G157A Missense 4/6 - 1
22-19951271-G-A c.472G>A p.V158M Missense 4/6 - 2161
22-19951271-GTG-ATC c.472_474delinsATC p.V158I Missense 4/6 - 1
22-19951273-G-A c.474G>A p.V158= Synonymous 4/6 - 25
22-19951273-G-C c.474G>C p.V158= Synonymous 4/6 - 25
22-19951273-G-T c.474G>T p.V158= Synonymous 4/6 - 25
22-19951272-TGAA-T c.475_477del p.K159del InFrameDeletion 4/6 - 1
22-19951276-G-A c.477G>A p.K159= Synonymous 4/6 - 1
22-19951276-G-T c.477G>T p.K159N Missense 4/6 - 1
22-19951300-G-A c.483+18G>A - IntronicSNV - 4/5 1
22-19951318-A-G c.483+36A>G - IntronicSNV - 4/5 1
22-19951598-T-C c.484-93T>C - IntronicSNV - 4/5 1
22-19951605-G-A c.484-86G>A - IntronicSNV - 4/5 1
22-19951605-G-T c.484-86G>T - IntronicSNV - 4/5 1
22-19951621-G-A c.484-70G>A - IntronicSNV - 4/5 1
22-19951664-C-T c.484-27C>T - IntronicSNV - 4/5 1
22-19951703-GTT-ATG c.496_498delinsATG p.V166M Missense 5/6 - 1
22-19951709-AGCGT-A c.502_505del p.A168Pfs*8 Frameshift 5/6 - 1
22-19951710-C-T c.503C>T p.A168V Missense 5/6 - 2
22-19951712-T-G c.505T>G p.S169A Missense 5/6 - 1
22-19951713-CC-AA c.506_507delinsAA p.S169* Nonsense 5/6 - 1
22-19951717-G-A c.510G>A p.Q170= Synonymous 5/6 - 1
22-19951721-AT-TG c.514_515delinsTG p.I172C Missense 5/6 - 1
22-19951725-T-A c.518T>A p.I173N Missense 5/6 - 1
22-19951726-C-G c.519C>G p.I173M Missense 5/6 - 1
22-19951730-CA-TC c.523_524delinsTC p.Q175S Missense 5/6 - 1
22-19951737-AG-TC c.530_531delinsTC p.K177I Missense 5/6 - 1
22-19951738-G-A c.531G>A p.K177= Synonymous 5/6 - 5
22-19951740-A-G c.533A>G p.K178R Missense 5/6 - 1
22-19951743-AG-TC c.536_537delinsTC p.K179I Missense 5/6 - 1
22-19951744-G-A c.537G>A p.K179= Synonymous 5/6 - 1
22-19951751-G-A c.544G>A p.V182M Missense 5/6 - 1
22-19951756-C-A c.549C>A p.D183E Missense 5/6 - 1
22-19951756-C-G c.549C>G p.D183E Missense 5/6 - 1
22-19951760-C-T c.553C>T p.L185= Synonymous 5/6 - 2
22-19951762-G-A c.555G>A p.L185= Synonymous 5/6 - 2
22-19951762-G-C c.555G>C p.L185= Synonymous 5/6 - 2
22-19951762-G-T c.555G>T p.L185= Synonymous 5/6 - 2
22-19951763-G-C c.556G>C p.D186H Missense 5/6 - 1
22-19951765-C-A c.558C>A p.D186E Missense 5/6 - 1
22-19951765-C-G c.558C>G p.D186E Missense 5/6 - 1
22-19951769-G-A c.562G>A p.V188I Missense 5/6 - 1
22-19951770-T-C c.563T>C p.V188A Missense 5/6 - 1
22-19951773-T-G c.566T>G p.F189C Missense 5/6 - 1
22-19951775-C-A c.568C>A p.L190I Missense 5/6 - 1
22-19951777-C-A c.570C>A p.L190= Synonymous 5/6 - 1
22-19951777-C-G c.570C>G p.L190= Synonymous 5/6 - 2
22-19951777-C-T c.570C>T p.L190= Synonymous 5/6 - 1
22-19951776-TCGA-T c.571_573del p.D191del InFrameDeletion 5/6 - 1
22-19951778-G-A c.571G>A p.D191N Missense 5/6 - 2
22-19951781-C-G c.574C>G p.H192D Missense 5/6 - 1
22-19951781-C-T c.574C>T p.H192Y Missense 5/6 - 4
22-19951783-C-A c.576C>A p.H192Q Missense 5/6 - 1
22-19951783-C-G c.576C>G p.H192Q Missense 5/6 - 2
22-19951783-C-T c.576C>T p.H192= Synonymous 5/6 - 1
22-19951785-G-A c.578G>A p.W193* Nonsense 5/6 - 3
22-19951784-TGGAAGGACC-T c.580_588del p.K194_R196del InFrameDeletion 5/6 - 1
22-19951793-C-T c.586C>T p.R196W Missense 5/6 - 4
22-19951794-G-A c.587G>A p.R196Q Missense 5/6 - 1
22-19951803-C-G c.596C>G p.P199R Missense 5/6 - 1
22-19951803-C-T c.596C>T p.P199L Missense 5/6 - 2
22-19951804-G-A c.597G>A p.P199= Synonymous 5/6 - 25
22-19951804-G-C c.597G>C p.P199= Synonymous 5/6 - 2
22-19951804-G-T c.597G>T p.P199= Synonymous 5/6 - 2
22-19951806-A-T c.599A>T p.D200V Missense 5/6 - 1
22-19951810-G-A c.603G>A p.T201= Synonymous 5/6 - 2
22-19951810-G-C c.603G>C p.T201= Synonymous 5/6 - 2
22-19951810-G-T c.603G>T p.T201= Synonymous 5/6 - 2
22-19951811-C-CTTTTTTTTTAATTTTTTTTTTTTTTTT c.606_607insTTTTTTTAATTTTTTTTTTTTTTTTTT p.L202_L203insFF* InFrameInsertion 5/6 - 1
22-19951816-C-T c.609C>T p.L203= Synonymous 5/6 - 7
22-19951819-G-A c.612G>A p.L204= Synonymous 5/6 - 1
22-19951819-G-C c.612G>C p.L204F Missense 5/6 - 1
22-19951844-A-G c.615+22A>G - IntronicSNV - 5/5 1
22-19951847-C-A c.615+25C>A - IntronicSNV - 5/5 2
22-19951847-C-T c.615+25C>T - IntronicSNV - 5/5 1
22-19951848-G-A c.615+26G>A - IntronicSNV - 5/5 1
22-19951864-A-T c.615+42A>T - IntronicSNV - 5/5 1
22-19951869-CCATT-C c.615+50_615+53del - IntronicDeletion - 5/5 1
22-19951881-C-A c.615+59C>A - IntronicSNV - 5/5 1
22-19951885-A-G c.615+63A>G - IntronicSNV - 5/5 1
22-19951885-A-T c.615+63A>T - IntronicSNV - 5/5 1
22-19951887-C-T c.615+65C>T - IntronicSNV - 5/5 1
22-19951897-G-A c.615+75G>A - IntronicSNV - 5/5 17
22-19951897-G-C c.615+75G>C - IntronicSNV - 5/5 18
22-19952132-C-G c.615+310C>G - IntronicSNV - 5/5 44
22-19952132-C-T c.615+310C>T - IntronicSNV - 5/5 46
22-19952168-G-A c.615+346G>A - IntronicSNV - 5/5 2
22-19952168-G-C c.615+346G>C - IntronicSNV - 5/5 1
22-19952224-T-A c.615+402T>A - IntronicSNV - 5/5 1
22-19952224-T-C c.615+402T>C - IntronicSNV - 5/5 1
22-19952501-C-T c.615+679C>T - IntronicSNV - 5/5 2
22-19952561-G-A c.615+739G>A - IntronicSNV - 5/5 40
22-19953059-T-C c.615+1237T>C - IntronicSNV - 5/5 3
22-19953176-C-A c.615+1354C>A - IntronicSNV - 5/5 31
22-19953176-C-T c.615+1354C>T - IntronicSNV - 5/5 31
22-19953188-A-C c.615+1366A>C - IntronicSNV - 5/5 1
22-19953792-A-G c.615+1970A>G - IntronicSNV - 5/5 1
22-19953832-A-G c.615+2010A>G - IntronicSNV - 5/5 17
22-19953882-T-C c.615+2060T>C - IntronicSNV - 5/5 1
22-19953899-C-A c.615+2077C>A - IntronicSNV - 5/5 1
22-19953899-C-T c.615+2077C>T - IntronicSNV - 5/5 1
22-19954307-G-A c.616-1752G>A - IntronicSNV - 5/5 1
22-19954458-C-T c.616-1601C>T - IntronicSNV - 5/5 26
22-19954847-G-A c.616-1212G>A - IntronicSNV - 5/5 6
22-19954847-G-T c.616-1212G>T - IntronicSNV - 5/5 6
22-19954870-C-A c.616-1189C>A - IntronicSNV - 5/5 1
22-19954870-C-T c.616-1189C>T - IntronicSNV - 5/5 1
22-19954929-T-TC c.616-1129dup - IntronicInsertion - 5/5 3
22-19955157-G-A c.616-902G>A - IntronicSNV - 5/5 4
22-19955157-G-T c.616-902G>T - IntronicSNV - 5/5 4
22-19955375-T-C c.616-684T>C - IntronicSNV - 5/5 2
22-19955375-T-G c.616-684T>G - IntronicSNV - 5/5 2
22-19955692-C-A c.616-367C>A - IntronicSNV - 5/5 57
22-19955692-C-T c.616-367C>T - IntronicSNV - 5/5 57
22-19955961-T-C c.616-98T>C - IntronicSNV - 5/5 1
22-19956014-G-C c.616-45G>C - IntronicSNV - 5/5 4
22-19956062-TG-AC c.619_620delinsAC p.C207T Missense 6/6 - 1
22-19956066-G-A c.623G>A p.G208D Missense 6/6 - 1
22-19956066-G-C c.623G>C p.G208A Missense 6/6 - 1
22-19956072-T-C c.629T>C p.L210P Missense 6/6 - 1
22-19956074-C-A c.631C>A p.R211= Synonymous 6/6 - 1
22-19956074-C-T c.631C>T p.R211W Missense 6/6 - 3
22-19956075-G-A c.632G>A p.R211Q Missense 6/6 - 1
22-19956078-A-C c.635A>C p.K212T Missense 6/6 - 2
22-19956078-A-G c.635A>G p.K212R Missense 6/6 - 1
22-19956079-G-A c.636G>A p.K212= Synonymous 6/6 - 1
22-19956080-G-A c.637G>A p.G213R Missense 6/6 - 5
22-19956081-GG-AC c.638_639delinsAC p.G213D Missense 6/6 - 1
22-19956083-ACA-TGT c.640_642inv p.T214C Missense 6/6 - 1
22-19956086-G-A c.643G>A p.V215M Missense 6/6 - 1
22-19956092-C-G c.649C>G p.L217V Missense 6/6 - 1
22-19956095-GC-TG c.652_653delinsTG p.A218C Missense 6/6 - 25
22-19956096-C-A c.653C>A p.A218D Missense 6/6 - 1
22-19956096-C-G c.653C>G p.A218G Missense 6/6 - 2
22-19956104-G-A c.661G>A p.V221M Missense 6/6 - 1
22-19956105-T-C c.662T>C p.V221A Missense 6/6 - 1
22-19956106-G-A c.663G>A p.V221= Synonymous 6/6 - 1
22-19956106-G-C c.663G>C p.V221= Synonymous 6/6 - 1
22-19956106-G-T c.663G>T p.V221= Synonymous 6/6 - 1
22-19956106-TGATC-T c.663_666del p.I222Afs*8 Frameshift 6/6 - 1
22-19956110-T-A c.667T>A p.C223S Missense 6/6 - 1
22-19956111-G-C c.668G>C p.C223S Missense 6/6 - 1
22-19956115-A-C c.672A>C p.P224= Synonymous 6/6 - 1
22-19956115-A-G c.672A>G p.P224= Synonymous 6/6 - 2
22-19956115-A-T c.672A>T p.P224= Synonymous 6/6 - 1
22-19956116-G-A c.673G>A p.G225S Missense 6/6 - 1
22-19956120-CG-AC c.677_678delinsAC p.A226D Missense 6/6 - 1
22-19956120-C-T c.677C>T p.A226V Missense 6/6 - 6
22-19956121-G-T c.678G>T p.A226= Synonymous 6/6 - 1
22-19956121-GC-G c.680del p.P227Qfs*4 Frameshift 6/6 - 1
22-19956123-C-T c.680C>T p.P227L Missense 6/6 - 1
22-19956125-G-C c.682G>C p.D228H Missense 6/6 - 1
22-19956125-G-T c.682G>T p.D228Y Missense 6/6 - 1
22-19956127-C-T c.684C>T p.D228= Synonymous 6/6 - 1
22-19956135-C-T c.692C>T p.A231V Missense 6/6 - 1
22-19956139-C-T c.696C>T p.H232= Synonymous 6/6 - 2
22-19956140-G-A c.697G>A p.V233M Missense 6/6 - 1
22-19956143-C-T c.700C>T p.R234C Missense 6/6 - 7
22-19956146-G-A c.703G>A p.G235R Missense 6/6 - 1
22-19956149-AG-TT c.706_707delinsTT p.S236F Missense 6/6 - 1
22-19956161-G-A c.718G>A p.E240K Missense 6/6 - 2
22-19956164-T-A c.721T>A p.C241S Missense 6/6 - 1
22-19956165-G-C c.722G>C p.C241S Missense 6/6 - 1
22-19956167-A-G c.724A>G p.T242A Missense 6/6 - 1
22-19956169-A-C c.726A>C p.T242= Synonymous 6/6 - 1
22-19956169-A-G c.726A>G p.T242= Synonymous 6/6 - 1
22-19956169-A-T c.726A>T p.T242= Synonymous 6/6 - 1
22-19956170-C-T c.727C>T p.H243Y Missense 6/6 - 1
22-19956180-C-A c.737C>A p.S246* Nonsense 6/6 - 2
22-19956180-C-T c.737C>T p.S246L Missense 6/6 - 2
22-19956181-G-A c.738G>A p.S246= Synonymous 6/6 - 1
22-19956181-G-C c.738G>C p.S246= Synonymous 6/6 - 1
22-19956181-G-T c.738G>T p.S246= Synonymous 6/6 - 1
22-19956182-T-G c.739T>G p.F247V Missense 6/6 - 1
22-19956185-C-T c.742C>T p.L248= Synonymous 6/6 - 1
22-19956194-A-G c.751A>G p.R251G Missense 6/6 - 1
22-19956194-AGG-CAT c.751_753delinsCAT p.R251H Missense 6/6 - 1
22-19956195-G-T c.752G>T p.R251M Missense 6/6 - 3
22-19956199-G-A c.756G>A p.E252= Synonymous 6/6 - 1
22-19956205-G-A c.762G>A p.V254= Synonymous 6/6 - 1
22-19956206-G-T c.763G>T p.D255Y Missense 6/6 - 2
22-19956209-G-A c.766G>A p.G256S Missense 6/6 - 1
22-19956209-G-C c.766G>C p.G256R Missense 6/6 - 1
22-19956210-G-A c.767G>A p.G256D Missense 6/6 - 1
22-19956211-C-T c.768C>T p.G256= Synonymous 6/6 - 1
22-19956220-G-A c.777G>A p.K259= Synonymous 6/6 - 1
22-19956221-G-A c.778G>A p.A260T Missense 6/6 - 1
22-19956222-C-G c.779C>G p.A260G Missense 6/6 - 1
22-19956226-C-G c.783C>G p.I261M Missense 6/6 - 1
22-19956232-G-A c.789G>A p.K263= Synonymous 6/6 - 1
22-19956243-G-T c.800G>T p.S267I Missense 6/6 - 1
22-19956242-A-C c.799A>C p.S267R Missense 6/6 - 1
22-19956244-C-A c.801C>A p.S267R Missense 6/6 - 1
22-19956244-C-CT c.801_802insT p.E268* Nonsense 6/6 - 1
22-19956244-C-G c.801C>G p.S267R Missense 6/6 - 1
22-19956244-C-T c.801C>T p.S267= Synonymous 6/6 - 1
22-19956248-GCA-TTT c.805_807delinsTTT p.A269F Missense 6/6 - 1
22-19956251-G-T c.808G>T p.G270W Missense 6/6 - 1
22-19956252-G-A c.809G>A p.G270E Missense 6/6 - 1
22-19956253-G-A c.810G>A p.G270= Synonymous 6/6 - 2
22-19956253-G-C c.810G>C p.G270= Synonymous 6/6 - 2
22-19956253-G-T c.810G>T p.G270= Synonymous 6/6 - 2
22-19956254-C-T c.811C>T p.P271S Missense 6/6 - 1
22-19956255-C-T c.812C>T p.P271L Missense 6/6 - 1
22-19956265-C-CG c.*6_*7insG - 3-UTRInsertion 6/6 - 1
22-19956270-G-A c.*11G>A - 3-UTRSNV 6/6 - 1
22-19956270-G-C c.*11G>C - 3-UTRSNV 6/6 - 1
22-19956270-G-T c.*11G>T - 3-UTRSNV 6/6 - 1
22-19956276-C-G c.*17C>G - 3-UTRSNV 6/6 - 1
22-19956276-C-T c.*17C>T - 3-UTRSNV 6/6 - 1
22-19956277-C-A c.*18C>A - 3-UTRSNV 6/6 - 1
22-19956277-C-G c.*18C>G - 3-UTRSNV 6/6 - 1
22-19956277-C-T c.*18C>T - 3-UTRSNV 6/6 - 1
22-19956361-A-T c.*102A>T - 3-UTRSNV 6/6 - 1
22-19956417-G-A c.*158G>A - 3-UTRSNV 6/6 - 1
22-19956553-C-G c.*294C>G - 3-UTRSNV 6/6 - 4
22-19956767-T-C c.*508T>C - 3-UTRSNV 6/6 - 1
22-19956781-G-A c.*522G>A - 3-UTRSNV 6/6 - 161
22-19956863-G-A c.*604G>A - 3-UTRSNV 6/6 - 2
22-19956885-T-C c.*626T>C - 3-UTRSNV 6/6 - 2
22-19957023-C-G c.*764C>G - 3-UTRSNV 6/6 - 24
22-19957023-C-T c.*764C>T - 3-UTRSNV 6/6 - 24
22-19957251-T-C c.*992T>C - 3-UTRSNV 6/6 - 1