EHBP1

EHBP1 EH domain binding protein 1

Annotation transcript: NM_001142616.3

1045 unique variant annotations were identified in 470 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
2-62934329-G-A c.3G>A p.M1? Missense 2/23 - 1
2-62934329-G-C c.3G>C p.M1? Missense 2/23 - 1
2-62934329-G-T c.3G>T p.M1? Missense 2/23 - 1
2-62934336-G-T c.10G>T p.V4F Missense 2/23 - 2
2-62934337-T-G c.11T>G p.V4G Missense 2/23 - 1
2-62934338-T-A c.12T>A p.V4= Synonymous 2/23 - 1
2-62934338-T-C c.12T>C p.V4= Synonymous 2/23 - 1
2-62934338-T-G c.12T>G p.V4= Synonymous 2/23 - 1
2-62934344-G-A c.18G>A p.K6= Synonymous 2/23 - 1
2-62934344-G-C c.18G>C p.K6N Missense 2/23 - 1
2-62934344-G-T c.18G>T p.K6N Missense 2/23 - 1
2-62934345-A-C c.19A>C p.R7= Synonymous 2/23 - 2
2-62934347-A-G c.21A>G p.R7= Synonymous 2/23 - 2
2-62934355-G-A c.29G>A p.R10H Missense 2/23 - 2
2-62934355-G-C c.29G>C p.R10P Missense 2/23 - 1
2-62934358-T-A c.32T>A p.V11E Missense 2/23 - 1
2-62934360-G-A c.34G>A p.G12R Missense 2/23 - 3
2-62934360-G-C c.34G>C p.G12R Missense 2/23 - 3
2-62934361-GA-AC c.35_36delinsAC p.G12D Missense 2/23 - 1
2-62934362-A-AT c.36_37insT p.K13* Nonsense 2/23 - 1
2-62934365-A-G c.39A>G p.K13= Synonymous 2/23 - 1
2-62934366-C-A c.40C>A p.H14N Missense 2/23 - 1
2-62934369-G-C c.43G>C p.A15P Missense 2/23 - 1
2-62934369-GC-AA c.43_44delinsAA p.A15K Missense 2/23 - 1
2-62934369-GCA-ATG c.43_45delinsATG p.A15M Missense 2/23 - 1
2-62934369-GC-AG c.43_44delinsAG p.A15R Missense 2/23 - 1
2-62934369-GC-AT c.43_44delinsAT p.A15I Missense 2/23 - 1
2-62934369-GCA-TGT c.43_45delinsTGT p.A15C Missense 2/23 - 1
2-62934369-GC-CT c.43_44delinsCT p.A15L Missense 2/23 - 1
2-62934369-G-T c.43G>T p.A15S Missense 2/23 - 1
2-62934371-A-C c.45A>C p.A15= Synonymous 2/23 - 1
2-62934371-A-G c.45A>G p.A15= Synonymous 2/23 - 1
2-62934371-A-T c.45A>T p.A15= Synonymous 2/23 - 1
2-62934376-A-C c.50A>C p.K17T Missense 2/23 - 1
2-62934380-C-T c.54C>T p.F18= Synonymous 2/23 - 2
2-62934388-T-C c.62T>C p.V21A Missense 2/23 - 1
2-62934390-G-A c.64G>A p.A22T Missense 2/23 - 1
2-62934390-GCC-AAG c.64_66delinsAAG p.A22K Missense 2/23 - 1
2-62934391-C-T c.65C>T p.A22V Missense 2/23 - 2
2-62934392-C-A c.66C>A p.A22= Synonymous 2/23 - 1
2-62934392-C-G c.66C>G p.A22= Synonymous 2/23 - 1
2-62934392-C-T c.66C>T p.A22= Synonymous 2/23 - 1
2-62934396-T-C c.70T>C p.Y24H Missense 2/23 - 1
2-62934403-A-C c.77A>C p.E26A Missense 2/23 - 5
2-62934409-T-C c.83T>C p.M28T Missense 2/23 - 1
2-62934414-G-A c.88G>A p.E30K Missense 2/23 - 1
2-62934416-G-C c.90G>C p.E30D Missense 2/23 - 2
2-62934417-T-C c.91T>C p.C31R Missense 2/23 - 2
2-62934419-T-G c.93T>G p.C31W Missense 2/23 - 1
2-62934421-C-G c.95C>G p.T32R Missense 2/23 - 1
2-62934421-CG-TC c.95_96delinsTC p.T32I Missense 2/23 - 1
2-62934426-A-G c.100A>G p.K34E Missense 2/23 - 1
2-62934429-T-C c.103T>C p.W35R Missense 2/23 - 1
2-62961534-C-T c.105-12996C>T - IntronicSNV - 2/22 1
2-62961535-T-C c.105-12995T>C - IntronicSNV - 2/22 1
2-62974526-G-C c.105-4G>C - IntronicSNV - 2/22 1
2-62974527-C-T c.105-3C>T - IntronicSNV - 2/22 2
2-62974534-C-T c.109C>T p.P37S Missense 3/23 - 1
2-62974542-A-C c.117A>C p.K39N Missense 3/23 - 1
2-62974546-G-C c.121G>C p.V41L Missense 3/23 - 1
2-62974549-G-A c.124G>A p.V42I Missense 3/23 - 4
2-62974561-AG-CA c.136_137delinsCA p.R46Q Missense 3/23 - 1
2-62974562-G-A c.137G>A p.R46K Missense 3/23 - 1
2-62974561-A-C c.136A>C p.R46= Synonymous 3/23 - 1
2-62974563-A-G c.138A>G p.R46= Synonymous 3/23 - 1
2-62974565-G-A c.140G>A p.R47K Missense 3/23 - 1
2-62974565-G-T c.140G>T p.R47I Missense 3/23 - 1
2-62974560-CAGA-C c.141_143del p.R47del InFrameDeletion 3/23 - 1
2-62974566-A-G c.141A>G p.R47= Synonymous 3/23 - 1
2-62974570-CGA-TGT c.145_147delinsTGT p.R49C Missense 3/23 - 1
2-62974570-C-T c.145C>T p.R49* Nonsense 3/23 - 1
2-62974571-G-A c.146G>A p.R49Q Missense 3/23 - 1
2-62974571-GA-AT c.146_147delinsAT p.R49H Missense 3/23 - 1
2-62974573-AGG-CAT c.148_150delinsCAT p.R50H Missense 3/23 - 4
2-62974574-G-A c.149G>A p.R50K Missense 3/23 - 1
2-62974573-A-C c.148A>C p.R50= Synonymous 3/23 - 1
2-62974575-G-A c.150G>A p.R50= Synonymous 3/23 - 3
2-62974580-C-A c.155C>A p.S52Y Missense 3/23 - 1
2-62974582-TC-CG c.157_158delinsCG p.S53R Missense 3/23 - 1
2-62975352-C-T c.162+765C>T - IntronicSNV - 3/22 1
2-62988169-G-T c.163-3232G>T - IntronicSNV - 3/22 1
2-62991405-A-T c.167A>T p.H56L Missense 4/23 - 1
2-62991411-G-T c.173G>T p.W58L Missense 4/23 - 1
2-62991412-G-C c.174G>C p.W58C Missense 4/23 - 1
2-62991412-G-T c.174G>T p.W58C Missense 4/23 - 2
2-62991416-C-T c.178C>T p.P60S Missense 4/23 - 1
2-62991420-G-A c.182G>A p.G61E Missense 4/23 - 1
2-62991421-A-C c.183A>C p.G61= Synonymous 4/23 - 1
2-62991421-A-G c.183A>G p.G61= Synonymous 4/23 - 1
2-62991421-A-T c.183A>T p.G61= Synonymous 4/23 - 1
2-62991424-A-C c.186A>C p.I62= Synonymous 4/23 - 1
2-62991424-A-T c.186A>T p.I62= Synonymous 4/23 - 1
2-62991423-TA-T c.191del p.N64Ifs*19 Frameshift 4/23 - 2
2-62991431-C-T c.193C>T p.P65S Missense 4/23 - 1
2-62991437-CGT-TGG c.199_201delinsTGG p.R67W Missense 4/23 - 1
2-62991437-C-T c.199C>T p.R67C Missense 4/23 - 2
2-62991441-G-T c.203G>T p.G68V Missense 4/23 - 1
2-62991441-GTGT-G c.210_212del p.V71del InFrameDeletion 4/23 - 1
2-62991453-G-A c.215G>A p.W72* Nonsense 4/23 - 1
2-62991454-G-C c.216G>C p.W72C Missense 4/23 - 3
2-62991454-G-T c.216G>T p.W72C Missense 4/23 - 4
2-62991461-C-T c.223C>T p.P75S Missense 4/23 - 3
2-62991462-C-T c.224C>T p.P75L Missense 4/23 - 4
2-62991463-T-A c.225T>A p.P75= Synonymous 4/23 - 1
2-62991463-T-C c.225T>C p.P75= Synonymous 4/23 - 1
2-62991463-T-G c.225T>G p.P75= Synonymous 4/23 - 1
2-62991464-G-C c.226G>C p.E76Q Missense 4/23 - 1
2-62991468-A-C c.230A>C p.N77T Missense 4/23 - 1
2-62991471-T-C c.233T>C p.I78T Missense 4/23 - 1
2-62991476-A-C c.238A>C p.I80L Missense 4/23 - 1
2-62991480-C-T c.242C>T p.T81I Missense 4/23 - 1
2-62991482-G-C c.244G>C p.V82L Missense 4/23 - 1
2-62991483-T-C c.245T>C p.V82A Missense 4/23 - 2
2-62991486-CA-AC c.248_249delinsAC p.T83N Missense 4/23 - 1
2-62991487-A-C c.249A>C p.T83= Synonymous 4/23 - 1
2-62991487-A-G c.249A>G p.T83= Synonymous 4/23 - 1
2-62991487-A-T c.249A>T p.T83= Synonymous 4/23 - 1
2-62991488-C-G c.250C>G p.L84V Missense 4/23 - 1
2-62991718-G-A c.258+222G>A - IntronicSNV - 4/22 1
2-62998475-A-T c.260A>T p.D87V Missense 5/23 - 1
2-62998478-C-A c.263C>A p.P88H Missense 5/23 - 2
2-62998478-C-T c.263C>T p.P88L Missense 5/23 - 1
2-62998480-C-G c.265C>G p.H89D Missense 5/23 - 1
2-62998484-C-T c.269C>T p.A90V Missense 5/23 - 1
2-62998485-G-A c.270G>A p.A90= Synonymous 5/23 - 2
2-62998486-G-A c.271G>A p.E91K Missense 5/23 - 1
2-62998493-T-A c.278T>A p.F93Y Missense 5/23 - 2
2-62998494-T-C c.279T>C p.F93= Synonymous 5/23 - 1
2-62998503-A-G c.288A>G p.K96= Synonymous 5/23 - 1
2-62998504-G-C c.289G>C p.E97Q Missense 5/23 - 2
2-62998504-G-T c.289G>T p.E97* Nonsense 5/23 - 1
2-62998509-G-C c.294G>C p.W98C Missense 5/23 - 1
2-62998509-G-T c.294G>T p.W98C Missense 5/23 - 1
2-62998519-A-T c.304A>T p.I102L Missense 5/23 - 1
2-62998523-A-C c.308A>C p.E103A Missense 5/23 - 2
2-62998524-A-C c.309A>C p.E103D Missense 5/23 - 1
2-62998524-A-T c.309A>T p.E103D Missense 5/23 - 1
2-62998791-A-G c.312+264A>G - IntronicSNV - 5/22 1
2-62998790-TA-T c.312+269del - IntronicDeletion - 5/22 1
2-62999792-C-A c.312+1265C>A - IntronicSNV - 5/22 1
2-63001139-C-T c.312+2612C>T - IntronicSNV - 5/22 1
2-63006701-G-A c.312+8174G>A - IntronicSNV - 5/22 1
2-63014930-G-A c.312+16403G>A - IntronicSNV - 5/22 1
2-63016176-G-A c.312+17649G>A - IntronicSNV - 5/22 1
2-63019087-C-T c.312+20560C>T - IntronicSNV - 5/22 1
2-63021274-T-G c.312+22747T>G - IntronicSNV - 5/22 1
2-63022050-T-C c.312+23523T>C - IntronicSNV - 5/22 1
2-63022050-T-G c.312+23523T>G - IntronicSNV - 5/22 1
2-63027337-T-G c.313-25885T>G - IntronicSNV - 5/22 3
2-63031407-T-C c.313-21815T>C - IntronicSNV - 5/22 1
2-63040941-A-G c.313-12281A>G - IntronicSNV - 5/22 1
2-63053048-G-A c.313-174G>A - IntronicSNV - 5/22 19
2-63053225-TC-CT c.316_317delinsCT p.S106L Missense 6/23 - 1
2-63053226-C-A c.317C>A p.S106Y Missense 6/23 - 1
2-63053226-C-T c.317C>T p.S106F Missense 6/23 - 1
2-63053228-C-T c.319C>T p.P107S Missense 6/23 - 1
2-63053232-C-G c.323C>G p.S108C Missense 6/23 - 5
2-63053235-G-A c.326G>A p.G109D Missense 6/23 - 1
2-63053237-C-A c.328C>A p.R110= Synonymous 6/23 - 1
2-63053237-C-G c.328C>G p.R110G Missense 6/23 - 2
2-63053237-CGA-TGG c.328_330delinsTGG p.R110W Missense 6/23 - 1
2-63053240-A-T c.331A>T p.R111W Missense 6/23 - 1
2-63053241-G-A c.332G>A p.R111K Missense 6/23 - 1
2-63053240-A-C c.331A>C p.R111= Synonymous 6/23 - 2
2-63053242-G-A c.333G>A p.R111= Synonymous 6/23 - 2
2-63053244-A-G c.335A>G p.K112R Missense 6/23 - 1
2-63053245-A-G c.336A>G p.K112= Synonymous 6/23 - 1
2-63053249-C-T c.340C>T p.L114F Missense 6/23 - 1
2-63053253-C-T c.344C>T p.A115V Missense 6/23 - 1
2-63053262-G-C c.353G>C p.S118T Missense 6/23 - 3
2-63053267-A-T c.358A>T p.N120Y Missense 6/23 - 1
2-63053274-A-G c.365A>G p.K122R Missense 6/23 - 1
2-63053282-G-A c.373G>A p.A125T Missense 6/23 - 1
2-63053287-C-T c.378C>T p.S126= Synonymous 6/23 - 1
2-63053288-C-T c.379C>T p.P127S Missense 6/23 - 1
2-63053289-C-T c.380C>T p.P127L Missense 6/23 - 1
2-63053291-A-G c.382A>G p.M128V Missense 6/23 - 1
2-63053294-C-A c.385C>A p.P129T Missense 6/23 - 1
2-63053296-A-C c.387A>C p.P129= Synonymous 6/23 - 1
2-63053296-A-G c.387A>G p.P129= Synonymous 6/23 - 1
2-63053296-A-T c.387A>T p.P129= Synonymous 6/23 - 1
2-63053297-A-G c.388A>G p.T130A Missense 6/23 - 1
2-63053300-C-T c.391C>T p.Q131* Nonsense 6/23 - 1
2-63053310-T-C c.401T>C p.V134A Missense 6/23 - 1
2-63053313-A-T c.404A>T p.K135M Missense 6/23 - 1
2-63053319-A-T c.410A>T p.K137I Missense 6/23 - 1
2-63053321-T-C c.412T>C p.F138L Missense 6/23 - 1
2-63053323-C-A c.414C>A p.F138L Missense 6/23 - 2
2-63053323-C-G c.414C>G p.F138L Missense 6/23 - 1
2-63053322-T-G c.413T>G p.F138C Missense 6/23 - 1
2-63053326-G-C c.417G>C p.K139N Missense 6/23 - 1
2-63053326-G-T c.417G>T p.K139N Missense 6/23 - 1
2-63053329-A-C c.420A>C p.P140= Synonymous 6/23 - 2
2-63053329-A-G c.420A>G p.P140= Synonymous 6/23 - 2
2-63053329-A-T c.420A>T p.P140= Synonymous 6/23 - 3
2-63053330-TTATC-T c.424_427del p.S142Kfs*17 Frameshift 6/23 - 1
2-63053334-C-G c.425C>G p.S142C Missense 6/23 - 1
2-63053348-TC-AA c.439_440delinsAA p.S147N Missense 6/23 - 1
2-63053350-T-C c.441T>C p.S147= Synonymous 6/23 - 1
2-63053352-C-T c.443C>T p.A148V Missense 6/23 - 1
2-63053354-G-A c.445G>A p.A149T Missense 6/23 - 1
2-63053354-G-T c.445G>T p.A149S Missense 6/23 - 1
2-63053355-C-T c.446C>T p.A149V Missense 6/23 - 1
2-63053357-C-G c.448C>G p.L150V Missense 6/23 - 1
2-63053359-T-A c.450T>A p.L150= Synonymous 6/23 - 1
2-63053359-T-C c.450T>C p.L150= Synonymous 6/23 - 1
2-63053359-T-G c.450T>G p.L150= Synonymous 6/23 - 1
2-63053361-A-C c.452A>C p.Q151P Missense 6/23 - 1
2-63053367-C-G c.458C>G p.S153* Nonsense 6/23 - 1
2-63053369-T-A c.460T>A p.L154I Missense 6/23 - 1
2-63053371-A-G c.462A>G p.L154= Synonymous 6/23 - 1
2-63053372-TC-GG c.463_464delinsGG p.S155G Missense 6/23 - 1
2-63053373-C-G c.464C>G p.S155C Missense 6/23 - 1
2-63053376-G-A c.467G>A p.C156Y Missense 6/23 - 2
2-63053378-A-T c.469A>T p.I157F Missense 6/23 - 4
2-63053381-T-A c.472T>A p.F158I Missense 6/23 - 1
2-63053384-CTG-TTT c.475_477delinsTTT p.L159F Missense 6/23 - 1
2-63053390-G-A c.481G>A p.E161K Missense 6/23 - 1
2-63053394-G-A c.485G>A p.G162E Missense 6/23 - 1
2-63053394-G-C c.485G>C p.G162A Missense 6/23 - 1
2-63053398-A-C c.489A>C p.K163N Missense 6/23 - 1
2-63053398-A-T c.489A>T p.K163N Missense 6/23 - 1
2-63053400-C-T c.491C>T p.A164V Missense 6/23 - 2
2-63053403-C-G c.494C>G p.T165R Missense 6/23 - 1
2-63053404-G-A c.494+1G>A - IntronicSNV - 6/22 1
2-63053404-G-T c.494+1G>T - IntronicSNV - 6/22 1
2-63058156-A-G c.497A>G p.D166G Missense 7/23 - 1
2-63058157-T-C c.498T>C p.D166= Synonymous 7/23 - 1
2-63058164-A-C c.505A>C p.M169L Missense 7/23 - 1
2-63058172-T-C c.513T>C p.S171= Synonymous 7/23 - 1
2-63058177-C-T c.518C>T p.A173V Missense 7/23 - 1
2-63058184-G-C c.525G>C p.L175F Missense 7/23 - 5
2-63058184-G-T c.525G>T p.L175F Missense 7/23 - 1
2-63058196-G-T c.537G>T p.K179N Missense 7/23 - 1
2-63058201-C-T c.542C>T p.A181V Missense 7/23 - 1
2-63058210-G-A c.551G>A p.G184D Missense 7/23 - 1
2-63058212-A-G c.553A>G p.N185D Missense 7/23 - 1
2-63058215-T-A c.556T>A p.L186I Missense 7/23 - 1
2-63058218-G-A c.559G>A p.D187N Missense 7/23 - 1
2-63058224-T-C c.565T>C p.F189L Missense 7/23 - 1
2-63058226-C-A c.567C>A p.F189L Missense 7/23 - 1
2-63058226-C-G c.567C>G p.F189L Missense 7/23 - 1
2-63058227-G-A c.568G>A p.E190K Missense 7/23 - 2
2-63058234-A-G c.575A>G p.D192G Missense 7/23 - 1
2-63058245-G-A c.586G>A p.D196N Missense 7/23 - 1
2-63058247-T-G c.588T>G p.D196E Missense 7/23 - 1
2-63058248-G-A c.589G>A p.D197N Missense 7/23 - 1
2-63058251-G-A c.592G>A p.E198K Missense 7/23 - 1
2-63058253-G-A c.594G>A p.E198= Synonymous 7/23 - 1
2-63058255-A-G c.596A>G p.N199S Missense 7/23 - 1
2-63058260-G-A c.601G>A p.V201M Missense 7/23 - 1
2-63058260-G-C c.601G>C p.V201L Missense 7/23 - 3
2-63058260-G-T c.601G>T p.V201L Missense 7/23 - 1
2-63058260-GTG-ATC c.601_603delinsATC p.V201I Missense 7/23 - 1
2-63058263-A-C c.604A>C p.N202H Missense 7/23 - 1
2-63058269-G-C c.610G>C p.E204Q Missense 7/23 - 1
2-63058276-A-G c.617A>G p.K206R Missense 7/23 - 1
2-63058281-G-A c.622G>A p.A208T Missense 7/23 - 1
2-63058282-C-T c.623C>T p.A208V Missense 7/23 - 1
2-63058293-G-GAGCTTATCAACAAACTTAACTTTTTGGATGAAGCAGAAAAGGACTTGGCCACC c.634_634+1insAGCTTATCAACAAACTTAACTTTTTGGATGAAGCAGAAAAGGACTTGGCCACC p.V230Sfs*19 SpliceDonorInsertion - - 1
2-63058299-T-G c.634+6T>G - IntronicSNV - 7/22 1
2-63058476-T-C c.634+183T>C - IntronicSNV - 7/22 1
2-63059817-C-T c.634+1524C>T - IntronicSNV - 7/22 1
2-63065822-C-G c.634+7529C>G - IntronicSNV - 7/22 1
2-63067490-C-T c.634+9197C>T - IntronicSNV - 7/22 1
2-63072208-A-G c.634+13915A>G - IntronicSNV - 7/22 1
2-63082346-A-G c.635-3958A>G - IntronicSNV - 7/22 1
2-63085586-A-T c.635-718A>T - IntronicSNV - 7/22 1
2-63085587-A-C c.635-717A>C - IntronicSNV - 7/22 1
2-63085587-A-G c.635-717A>G - IntronicSNV - 7/22 1
2-63085613-T-C c.635-691T>C - IntronicSNV - 7/22 1
2-63085613-T-G c.635-691T>G - IntronicSNV - 7/22 1
2-63085615-C-G c.635-689C>G - IntronicSNV - 7/22 1
2-63085615-C-T c.635-689C>T - IntronicSNV - 7/22 1
2-63085624-A-G c.635-680A>G - IntronicSNV - 7/22 1
2-63085627-T-C c.635-677T>C - IntronicSNV - 7/22 1
2-63085640-C-T c.635-664C>T - IntronicSNV - 7/22 1
2-63085848-T-A c.635-456T>A - IntronicSNV - 7/22 4
2-63085848-T-C c.635-456T>C - IntronicSNV - 7/22 4
2-63086285-C-G c.635-19C>G - IntronicSNV - 7/22 1
2-63086285-C-T c.635-19C>T - IntronicSNV - 7/22 1
2-63086304-A-C c.635A>C p.E212A Missense 8/23 - 2
2-63086305-G-A c.636G>A p.E212= Synonymous 8/23 - 1
2-63086305-G-C c.636G>C p.E212D Missense 8/23 - 1
2-63086305-G-T c.636G>T p.E212D Missense 8/23 - 1
2-63086311-C-A c.642C>A p.I214= Synonymous 8/23 - 1
2-63086311-C-T c.642C>T p.I214= Synonymous 8/23 - 1
2-63086324-T-G c.655T>G p.F219V Missense 8/23 - 1
2-63086327-T-C c.658T>C p.L220= Synonymous 8/23 - 1
2-63086329-G-C c.660G>C p.L220F Missense 8/23 - 1
2-63086330-G-A c.661G>A p.D221N Missense 8/23 - 1
2-63086337-CA-AC c.668_669delinsAC p.A223D Missense 8/23 - 1
2-63086342-A-G c.673A>G p.K225E Missense 8/23 - 1
2-63086351-G-C c.682G>C p.A228P Missense 8/23 - 1
2-63086352-C-G c.683C>G p.A228G Missense 8/23 - 1
2-63086352-C-T c.683C>T p.A228V Missense 8/23 - 1
2-63086353-C-A c.684C>A p.A228= Synonymous 8/23 - 1
2-63086353-C-G c.684C>G p.A228= Synonymous 8/23 - 1
2-63086353-C-T c.684C>T p.A228= Synonymous 8/23 - 1
2-63086358-T-C c.689T>C p.V230A Missense 8/23 - 1
2-63086360-A-C c.691A>C p.N231H Missense 8/23 - 1
2-63086366-A-C c.697A>C p.N233H Missense 8/23 - 1
2-63086366-A-G c.697A>G p.N233D Missense 8/23 - 1
2-63086366-A-T c.697A>T p.N233Y Missense 8/23 - 1
2-63086370-C-A c.701C>A p.P234Q Missense 8/23 - 1
2-63086370-C-T c.701C>T p.P234L Missense 8/23 - 1
2-63086372-T-G c.703T>G p.F235V Missense 8/23 - 1
2-63086374-T-G c.705T>G p.F235L Missense 8/23 - 1
2-63086379-A-G c.710A>G p.D237G Missense 8/23 - 1
2-63086379-A-T c.710A>T p.D237V Missense 8/23 - 1
2-63086382-C-T c.713C>T p.P238L Missense 8/23 - 1
2-63086386-T-A c.717T>A p.D239E Missense 8/23 - 1
2-63086386-T-G c.717T>G p.D239E Missense 8/23 - 1
2-63086397-T-C c.728T>C p.L243S Missense 8/23 - 1
2-63086398-A-C c.729A>C p.L243F Missense 8/23 - 1
2-63086398-A-T c.729A>T p.L243F Missense 8/23 - 1
2-63086406-T-C c.737T>C p.F246S Missense 8/23 - 2
2-63086411-G-A c.742G>A p.D248N Missense 8/23 - 1
2-63086411-G-C c.742G>C p.D248H Missense 8/23 - 1
2-63086414-C-T c.745C>T p.P249S Missense 8/23 - 2
2-63086423-G-T c.754G>T p.E252* Nonsense 8/23 - 2
2-63086426-G-A c.757G>A p.E253K Missense 8/23 - 1
2-63086523-A-C c.757+97A>C - IntronicSNV - 8/22 1
2-63086639-C-T c.757+213C>T - IntronicSNV - 8/22 3
2-63091866-A-G c.758A>G p.E253G Missense 9/23 - 1
2-63091872-T-G c.764T>G p.I255S Missense 9/23 - 1
2-63091877-G-A c.769G>A p.E257K Missense 9/23 - 1
2-63091889-C-T c.781C>T p.P261S Missense 9/23 - 2
2-63091891-T-C c.783T>C p.P261= Synonymous 9/23 - 1
2-63091895-A-G c.787A>G p.K263E Missense 9/23 - 1
2-63091901-G-A c.793G>A p.E265K Missense 9/23 - 1
2-63091908-CT-AA c.800_801delinsAA p.S267* Nonsense 9/23 - 1
2-63091910-T-C c.802T>C p.F268L Missense 9/23 - 1
2-63091914-A-C c.806A>C p.Y269S Missense 9/23 - 1
2-63091917-A-G c.809A>G p.N270S Missense 9/23 - 1
2-63091921-C-A c.813C>A p.N271K Missense 9/23 - 1
2-63091921-C-G c.813C>G p.N271K Missense 9/23 - 1
2-63091923-G-A c.815G>A p.S272N Missense 9/23 - 1
2-63091924-C-A c.816C>A p.S272R Missense 9/23 - 1
2-63091924-C-G c.816C>G p.S272R Missense 9/23 - 1
2-63091924-C-T c.816C>T p.S272= Synonymous 9/23 - 1
2-63091929-A-T c.821A>T p.N274I Missense 9/23 - 1
2-63091931-C-T c.823C>T p.P275S Missense 9/23 - 1
2-63091932-C-T c.824C>T p.P275L Missense 9/23 - 1
2-63091945-G-A c.837G>A p.V279= Synonymous 9/23 - 1
2-63091945-G-C c.837G>C p.V279= Synonymous 9/23 - 1
2-63091945-G-T c.837G>T p.V279= Synonymous 9/23 - 1
2-63091946-C-T c.838C>T p.Q280* Nonsense 9/23 - 2
2-63091953-C-T c.845C>T p.P282L Missense 9/23 - 1
2-63091957-G-A c.849G>A p.Q283= Synonymous 9/23 - 1
2-63091961-T-TGACTCAGA c.853_854insGACTCAGA p.L285* Nonsense 9/23 - 1
2-63091963-G-A c.855G>A p.L285= Synonymous 9/23 - 1
2-63091968-C-T c.860C>T p.P287L Missense 9/23 - 1
2-63091972-C-A c.864C>A p.F288L Missense 9/23 - 1
2-63091972-C-T c.864C>T p.F288= Synonymous 9/23 - 1
2-63091973-G-A c.865G>A p.D289N Missense 9/23 - 1
2-63091976-G-A c.868G>A p.E290K Missense 9/23 - 2
2-63091977-A-G c.869A>G p.E290G Missense 9/23 - 1
2-63091978-G-C c.870G>C p.E290D Missense 9/23 - 1
2-63091982-G-A c.874G>A p.E292K Missense 9/23 - 2
2-63091986-C-A c.878C>A p.A293E Missense 9/23 - 1
2-63091988-T-C c.880T>C p.F294L Missense 9/23 - 1
2-63091996-C-T c.888C>T p.T296= Synonymous 9/23 - 1
2-63091997-A-G c.889A>G p.I297V Missense 9/23 - 1
2-63092000-A-G c.892A>G p.K298E Missense 9/23 - 1
2-63092002-G-C c.894G>C p.K298N Missense 9/23 - 1
2-63092002-G-T c.894G>T p.K298N Missense 9/23 - 1
2-63092008-T-A c.900T>A p.S300= Synonymous 9/23 - 1
2-63092008-T-C c.900T>C p.S300= Synonymous 9/23 - 1
2-63092008-T-G c.900T>G p.S300= Synonymous 9/23 - 1
2-63092010-C-G c.902C>G p.P301R Missense 9/23 - 1
2-63092012-C-T c.904C>T p.P302S Missense 9/23 - 2
2-63092016-A-T c.908A>T p.Q303L Missense 9/23 - 1
2-63092027-AG-CA c.919_920delinsCA p.R307Q Missense 9/23 - 2
2-63092027-A-C c.919A>C p.R307= Synonymous 9/23 - 1
2-63092029-A-G c.921A>G p.R307= Synonymous 9/23 - 1
2-63092036-A-G c.928A>G p.I310V Missense 9/23 - 1
2-63092037-T-C c.929T>C p.I310T Missense 9/23 - 1
2-63092039-A-T c.931A>T p.R311* Nonsense 9/23 - 2
2-63092043-C-T c.935C>T p.P312L Missense 9/23 - 1
2-63092046-T-C c.938T>C p.V313A Missense 9/23 - 1
2-63092050-T-A c.942T>A p.D314E Missense 9/23 - 2
2-63092050-T-G c.942T>G p.D314E Missense 9/23 - 2
2-63092051-A-G c.943A>G p.M315V Missense 9/23 - 1
2-63092053-G-A c.945G>A p.M315I Missense 9/23 - 1
2-63092054-A-G c.946A>G p.S316G Missense 9/23 - 1
2-63092055-G-A c.947G>A p.S316N Missense 9/23 - 1
2-63092055-G-T c.947G>T p.S316I Missense 9/23 - 1
2-63092056-C-T c.948C>T p.S316= Synonymous 9/23 - 1
2-63092057-A-C c.949A>C p.K317Q Missense 9/23 - 1
2-63092058-A-G c.950A>G p.K317R Missense 9/23 - 1
2-63092061-A-C c.953A>C p.Y318S Missense 9/23 - 1
2-63092067-A-T c.959A>T p.Y320F Missense 9/23 - 1
2-63092070-C-A c.962C>A p.A321D Missense 9/23 - 1
2-63092087-G-A c.979G>A p.E327K Missense 9/23 - 1
2-63092093-G-A c.985G>A p.E329K Missense 9/23 - 1
2-63092096-G-A c.988G>A p.E330K Missense 9/23 - 1
2-63092102-G-T c.994G>T p.D332Y Missense 9/23 - 1
2-63092103-A-T c.995A>T p.D332V Missense 9/23 - 1
2-63093273-C-T c.998+1167C>T - IntronicSNV - 9/22 1
2-63101483-C-G c.1001C>G p.S334* Nonsense 10/23 - 1
2-63101489-C-G c.1007C>G p.P336R Missense 10/23 - 1
2-63101490-T-A c.1008T>A p.P336= Synonymous 10/23 - 1
2-63101490-T-C c.1008T>C p.P336= Synonymous 10/23 - 3
2-63101490-T-G c.1008T>G p.P336= Synonymous 10/23 - 1
2-63101495-A-G c.1013A>G p.Y338C Missense 10/23 - 1
2-63101511-T-A c.1029T>A p.T343= Synonymous 10/23 - 1
2-63101511-T-C c.1029T>C p.T343= Synonymous 10/23 - 1
2-63101511-T-G c.1029T>G p.T343= Synonymous 10/23 - 1
2-63101511-TC-T c.1031del p.P344Lfs*7 Frameshift 10/23 - 1
2-63101513-C-T c.1031C>T p.P344L Missense 10/23 - 1
2-63101518-C-G c.1036C>G p.P346A Missense 10/23 - 1
2-63101521-A-T c.1039A>T p.N347Y Missense 10/23 - 1
2-63101524-A-G c.1042A>G p.N348D Missense 10/23 - 1
2-63101529-G-C c.1047G>C p.L349F Missense 10/23 - 1
2-63101529-G-T c.1047G>T p.L349F Missense 10/23 - 1
2-63101532-A-C c.1050A>C p.V350= Synonymous 10/23 - 1
2-63101532-A-G c.1050A>G p.V350= Synonymous 10/23 - 1
2-63101532-A-T c.1050A>T p.V350= Synonymous 10/23 - 1
2-63101537-C-G c.1055C>G p.P352R Missense 10/23 - 1
2-63101541-T-G c.1059T>G p.V353= Synonymous 10/23 - 1
2-63101542-C-G c.1060C>G p.Q354E Missense 10/23 - 1
2-63101542-C-T c.1060C>T p.Q354* Nonsense 10/23 - 1
2-63101545-G-A c.1063G>A p.E355K Missense 10/23 - 1
2-63101546-A-T c.1064A>T p.E355V Missense 10/23 - 2
2-63101561-G-A c.1079G>A p.R360K Missense 10/23 - 1
2-63101563-CG-AA c.1081_1082delinsAA p.R361K Missense 10/23 - 1
2-63101564-GA-AT c.1082_1083delinsAT p.R361H Missense 10/23 - 1
2-63101568-G-T c.1086G>T p.V362= Synonymous 10/23 - 1
2-63101570-A-G c.1088A>G p.K363R Missense 10/23 - 1
2-63101573-G-C c.1091G>C p.R364T Missense 10/23 - 1
2-63101585-C-G c.1103C>G p.A368G Missense 10/23 - 2
2-63101585-C-T c.1103C>T p.A368V Missense 10/23 - 1
2-63101587-C-G c.1105C>G p.P369A Missense 10/23 - 7
2-63101587-C-T c.1105C>T p.P369S Missense 10/23 - 3
2-63101588-C-T c.1106C>T p.P369L Missense 10/23 - 1
2-63101590-C-T c.1108C>T p.P370S Missense 10/23 - 1
2-63101591-C-T c.1109C>T p.P370L Missense 10/23 - 1
2-63101602-C-A c.1120C>A p.P374T Missense 10/23 - 1
2-63101602-C-T c.1120C>T p.P374S Missense 10/23 - 1
2-63101603-C-T c.1121C>T p.P374L Missense 10/23 - 1
2-63101614-G-T c.1132G>T p.V378L Missense 10/23 - 1
2-63101636-C-A c.1154C>A p.S385Y Missense 10/23 - 1
2-63101636-C-T c.1154C>T p.S385F Missense 10/23 - 1
2-63101639-C-T c.1157C>T p.A386V Missense 10/23 - 1
2-63101652-C-A c.1170C>A p.L390= Synonymous 10/23 - 1
2-63101652-C-G c.1170C>G p.L390= Synonymous 10/23 - 1
2-63101652-C-T c.1170C>T p.L390= Synonymous 10/23 - 1
2-63101656-A-G c.1174A>G p.T392A Missense 10/23 - 1
2-63101657-C-A c.1175C>A p.T392N Missense 10/23 - 1
2-63101659-T-A c.1177T>A p.S393T Missense 10/23 - 1
2-63101661-T-A c.1179T>A p.S393= Synonymous 10/23 - 1
2-63101661-T-C c.1179T>C p.S393= Synonymous 10/23 - 1
2-63101661-T-G c.1179T>G p.S393= Synonymous 10/23 - 1
2-63101665-A-G c.1183A>G p.K395E Missense 10/23 - 1
2-63102012-G-A c.1185+345G>A - IntronicSNV - 10/22 1
2-63104904-T-A c.1185+3237T>A - IntronicSNV - 10/22 1
2-63104904-T-C c.1185+3237T>C - IntronicSNV - 10/22 1
2-63119906-C-T c.1185+18239C>T - IntronicSNV - 10/22 1
2-63119967-T-C c.1185+18300T>C - IntronicSNV - 10/22 1
2-63123614-A-G c.1185+21947A>G - IntronicSNV - 10/22 1
2-63131731-G-A c.1185+30064G>A - IntronicSNV - 10/22 106
2-63134879-C-A c.1185+33212C>A - IntronicSNV - 10/22 11
2-63135100-C-T c.1185+33433C>T - IntronicSNV - 10/22 1
2-63139305-T-C c.1186-30548T>C - IntronicSNV - 10/22 2
2-63144695-T-C c.1186-25158T>C - IntronicSNV - 10/22 1
2-63149557-G-A c.1186-20296G>A - IntronicSNV - 10/22 15
2-63154816-A-G c.1186-15037A>G - IntronicSNV - 10/22 1
2-63154816-A-T c.1186-15037A>T - IntronicSNV - 10/22 1
2-63165942-A-G c.1186-3911A>G - IntronicSNV - 10/22 1
2-63166379-G-A c.1186-3474G>A - IntronicSNV - 10/22 1
2-63166379-G-T c.1186-3474G>T - IntronicSNV - 10/22 1
2-63169835-C-G c.1186-18C>G - IntronicSNV - 10/22 1
2-63169835-C-T c.1186-18C>T - IntronicSNV - 10/22 1
2-63169853-C-T c.1186C>T p.P396S Missense 11/23 - 1
2-63169858-C-T c.1191C>T p.S397= Synonymous 11/23 - 2
2-63169866-C-T c.1199C>T p.P400L Missense 11/23 - 1
2-63169870-T-C c.1203T>C p.S401= Synonymous 11/23 - 1
2-63169872-CT-AA c.1205_1206delinsAA p.P402Q Missense 11/23 - 1
2-63169873-T-A c.1206T>A p.P402= Synonymous 11/23 - 1
2-63169873-T-C c.1206T>C p.P402= Synonymous 11/23 - 1
2-63169873-T-G c.1206T>G p.P402= Synonymous 11/23 - 1
2-63169880-G-A c.1213G>A p.G405R Missense 11/23 - 1
2-63169883-C-T c.1216C>T p.R406* Nonsense 11/23 - 1
2-63169884-G-A c.1217G>A p.R406Q Missense 11/23 - 1
2-63169888-G-A c.1221G>A p.K407= Synonymous 11/23 - 1
2-63169889-C-A c.1222C>A p.P408T Missense 11/23 - 1
2-63169913-G-A c.1246G>A p.V416I Missense 11/23 - 2
2-63169923-A-G c.1256A>G p.K419R Missense 11/23 - 1
2-63169943-C-T c.1276C>T p.R426* Nonsense 11/23 - 1
2-63169954-A-C c.1287A>C p.K429N Missense 11/23 - 1
2-63169960-C-T c.1293C>T p.T431= Synonymous 11/23 - 1
2-63169964-T-C c.1297T>C p.F433L Missense 11/23 - 1
2-63169966-T-A c.1299T>A p.F433L Missense 11/23 - 1
2-63169966-T-G c.1299T>G p.F433L Missense 11/23 - 1
2-63169971-C-T c.1304C>T p.T435I Missense 11/23 - 1
2-63169974-C-T c.1307C>T p.S436L Missense 11/23 - 1
2-63169975-G-A c.1308G>A p.S436= Synonymous 11/23 - 2
2-63169975-G-C c.1308G>C p.S436= Synonymous 11/23 - 2
2-63169975-G-T c.1308G>T p.S436= Synonymous 11/23 - 2
2-63169985-G-A c.1318G>A p.G440S Missense 11/23 - 1
2-63169992-C-G c.1325C>G p.S442C Missense 11/23 - 2
2-63169998-G-C c.1331G>C p.C444S Missense 11/23 - 1
2-63170003-A-G c.1336A>G p.I446V Missense 11/23 - 2
2-63170003-A-T c.1336A>T p.I446L Missense 11/23 - 1
2-63170009-C-T c.1342C>T p.H448Y Missense 11/23 - 1
2-63170010-A-G c.1343A>G p.H448R Missense 11/23 - 1
2-63170024-G-A c.1357G>A p.D453N Missense 11/23 - 1
2-63170026-T-G c.1359T>G p.D453E Missense 11/23 - 1
2-63170031-T-A c.1364T>A p.I455N Missense 11/23 - 1
2-63170185-C-A c.1364+154C>A - IntronicSNV - 11/22 3
2-63170185-C-T c.1364+154C>T - IntronicSNV - 11/22 3
2-63170905-A-G c.1365-32A>G - IntronicSNV - 11/22 2
2-63170905-A-T c.1365-32A>T - IntronicSNV - 11/22 2
2-63170921-C-G c.1365-16C>G - IntronicSNV - 11/22 5
2-63170942-A-G c.1370A>G p.Y457C Missense 12/23 - 1
2-63170949-T-A c.1377T>A p.S459= Synonymous 12/23 - 1
2-63170949-T-C c.1377T>C p.S459= Synonymous 12/23 - 1
2-63170949-T-G c.1377T>G p.S459= Synonymous 12/23 - 1
2-63170959-C-G c.1387C>G p.Q463E Missense 12/23 - 1
2-63170962-G-A c.1390G>A p.D464N Missense 12/23 - 1
2-63170971-G-C c.1399G>C p.E467Q Missense 12/23 - 1
2-63170973-G-A c.1401G>A p.E467= Synonymous 12/23 - 1
2-63170973-G-C c.1401G>C p.E467D Missense 12/23 - 1
2-63170975-A-G c.1403A>G p.N468S Missense 12/23 - 1
2-63170978-A-G c.1406A>G p.N469S Missense 12/23 - 1
2-63170984-A-G c.1412A>G p.K471R Missense 12/23 - 1
2-63170985-G-T c.1413G>T p.K471N Missense 12/23 - 1
2-63175203-A-G c.1414-192A>G - IntronicSNV - 12/22 1
2-63175395-G-A c.1414G>A p.A472T Missense 13/23 - 1
2-63175396-C-T c.1415C>T p.A472V Missense 13/23 - 2
2-63175398-T-C c.1417T>C p.Y473H Missense 13/23 - 1
2-63175404-G-A c.1423G>A p.G475R Missense 13/23 - 1
2-63175407-T-C c.1426T>C p.F476L Missense 13/23 - 1
2-63175409-T-A c.1428T>A p.F476L Missense 13/23 - 1
2-63175409-T-G c.1428T>G p.F476L Missense 13/23 - 1
2-63175411-C-CT c.1430_1431insT p.S478Qfs*12 Frameshift 13/23 - 2
2-63175411-C-G c.1430C>G p.A477G Missense 13/23 - 3
2-63175413-AG-GC c.1432_1433delinsGC p.S478A Missense 13/23 - 1
2-63175414-G-C c.1433G>C p.S478T Missense 13/23 - 2
2-63175418-A-G c.1437A>G p.I479M Missense 13/23 - 1
2-63175422-A-G c.1441A>G p.I481V Missense 13/23 - 1
2-63175428-C-T c.1447C>T p.R483* Nonsense 13/23 - 1
2-63175440-C-T c.1459C>T p.P487S Missense 13/23 - 1
2-63175452-G-A c.1471G>A p.V491I Missense 13/23 - 1
2-63175479-A-T c.1498A>T p.T500S Missense 13/23 - 1
2-63175487-G-T c.1506G>T p.M502I Missense 13/23 - 1
2-63175490-T-A c.1509T>A p.T503= Synonymous 13/23 - 1
2-63175490-T-C c.1509T>C p.T503= Synonymous 13/23 - 1
2-63175490-T-G c.1509T>G p.T503= Synonymous 13/23 - 1
2-63175498-A-G c.1517A>G p.Y506C Missense 13/23 - 1
2-63175506-A-C c.1525A>C p.R509= Synonymous 13/23 - 2
2-63175512-C-T c.1531C>T p.H511Y Missense 13/23 - 1
2-63175517-C-T c.1536C>T p.F512= Synonymous 13/23 - 1
2-63175519-G-A c.1538G>A p.S513N Missense 13/23 - 1
2-63175538-C-T c.1557C>T p.V519= Synonymous 13/23 - 1
2-63175551-G-A c.1570G>A p.E524K Missense 13/23 - 1
2-63175552-A-G c.1571A>G p.E524G Missense 13/23 - 1
2-63175554-A-G c.1573A>G p.N525D Missense 13/23 - 1
2-63175578-G-C c.1597G>C p.V533L Missense 13/23 - 1
2-63175583-AAACT-A c.1604_1607del p.N535Mfs*21 Frameshift 13/23 - 1
2-63175588-A-G c.1607A>G p.Y536C Missense 13/23 - 1
2-63175594-C-T c.1613C>T p.T538I Missense 13/23 - 1
2-63175610-T-A c.1629T>A p.S543= Synonymous 13/23 - 1
2-63175610-T-C c.1629T>C p.S543= Synonymous 13/23 - 1
2-63175610-T-G c.1629T>G p.S543= Synonymous 13/23 - 1
2-63175626-T-C c.1645T>C p.F549L Missense 13/23 - 1
2-63175628-C-A c.1647C>A p.F549L Missense 13/23 - 1
2-63175628-C-G c.1647C>G p.F549L Missense 13/23 - 1
2-63175632-G-T c.1651G>T p.A551S Missense 13/23 - 1
2-63175635-G-A c.1654G>A p.E552K Missense 13/23 - 1
2-63175637-G-A c.1656G>A p.E552= Synonymous 13/23 - 1
2-63175644-G-A c.1663G>A p.D555N Missense 13/23 - 1
2-63175645-A-T c.1664A>T p.D555V Missense 13/23 - 11
2-63175647-C-G c.1666C>G p.L556V Missense 13/23 - 1
2-63175653-CGG-ATC c.1672_1674delinsATC p.R558I Missense 13/23 - 1
2-63175653-CGG-TGT c.1672_1674delinsTGT p.R558C Missense 13/23 - 1
2-63175654-G-A c.1673G>A p.R558Q Missense 13/23 - 1
2-63175654-G-C c.1673G>C p.R558P Missense 13/23 - 1
2-63175655-G-A c.1674G>A p.R558= Synonymous 13/23 - 1
2-63175662-G-C c.1681G>C p.E561Q Missense 13/23 - 1
2-63175669-A-C c.1688A>C p.Q563P Missense 13/23 - 1
2-63175669-A-T c.1688A>T p.Q563L Missense 13/23 - 1
2-63175683-G-A c.1702G>A p.G568R Missense 13/23 - 1
2-63175683-GGA-TGT c.1702_1704delinsTGT p.G568C Missense 13/23 - 1
2-63175684-G-T c.1703G>T p.G568V Missense 13/23 - 1
2-63175686-G-A c.1705G>A p.A569T Missense 13/23 - 1
2-63175686-G-T c.1705G>T p.A569S Missense 13/23 - 1
2-63175692-G-A c.1711G>A p.D571N Missense 13/23 - 4
2-63175717-T-C c.1736T>C p.V579A Missense 13/23 - 1
2-63175728-G-A c.1747G>A p.D583N Missense 13/23 - 1
2-63175728-G-T c.1747G>T p.D583Y Missense 13/23 - 1
2-63175732-G-A c.1751G>A p.S584N Missense 13/23 - 1
2-63175734-G-A c.1753G>A p.G585R Missense 13/23 - 1
2-63175743-G-A c.1762G>A p.E588K Missense 13/23 - 1
2-63175743-G-C c.1762G>C p.E588Q Missense 13/23 - 1
2-63175746-TCA-AAC c.1765_1767delinsAAC p.S589N Missense 13/23 - 1
2-63175750-A-T c.1769A>T p.E590V Missense 13/23 - 2
2-63175755-G-C c.1774G>C p.E592Q Missense 13/23 - 1
2-63175757-G-A c.1776G>A p.E592= Synonymous 13/23 - 1
2-63175759-A-G c.1778A>G p.H593R Missense 13/23 - 2
2-63175769-T-A c.1788T>A p.P596= Synonymous 13/23 - 1
2-63175769-T-C c.1788T>C p.P596= Synonymous 13/23 - 1
2-63175769-T-G c.1788T>G p.P596= Synonymous 13/23 - 1
2-63175779-C-T c.1798C>T p.L600F Missense 13/23 - 1
2-63175782-AG-CT c.1801_1802inv p.S601L Missense 13/23 - 1
2-63175784-T-C c.1803T>C p.S601= Synonymous 13/23 - 1
2-63175788-AG-CC c.1807_1808delinsCC p.S603P Missense 13/23 - 1
2-63175788-AGC-TGA c.1807_1809delinsTGA p.S603* Nonsense 13/23 - 1
2-63175789-G-C c.1808G>C p.S603T Missense 13/23 - 1
2-63175806-TG-AC c.1825_1826delinsAC p.C609T Missense 13/23 - 1
2-63175810-G-A c.1829G>A p.R610H Missense 13/23 - 2
2-63175810-G-T c.1829G>T p.R610L Missense 13/23 - 1
2-63175813-G-C c.1832G>C p.R611T Missense 13/23 - 1
2-63175813-G-T c.1832G>T p.R611M Missense 13/23 - 1
2-63175816-CT-TG c.1835_1836delinsTG p.T612M Missense 13/23 - 1
2-63175817-T-A c.1836T>A p.T612= Synonymous 13/23 - 1
2-63175817-T-C c.1836T>C p.T612= Synonymous 13/23 - 1
2-63175817-T-G c.1836T>G p.T612= Synonymous 13/23 - 1
2-63175818-A-G c.1837A>G p.K613E Missense 13/23 - 1
2-63175819-A-G c.1838A>G p.K613R Missense 13/23 - 1
2-63175823-T-C c.1842T>C p.S614= Synonymous 13/23 - 1
2-63175827-A-G c.1846A>G p.T616A Missense 13/23 - 1
2-63175843-C-G c.1862C>G p.S621C Missense 13/23 - 1
2-63175845-C-A c.1864C>A p.Q622K Missense 13/23 - 2
2-63175855-C-T c.1874C>T p.S625F Missense 13/23 - 1
2-63175857-GG-CC c.1876_1877inv p.G626P Missense 13/23 - 1
2-63175861-G-A c.1880G>A p.R627K Missense 13/23 - 1
2-63175868-A-C c.1887A>C p.S629= Synonymous 13/23 - 2
2-63175868-A-G c.1887A>G p.S629= Synonymous 13/23 - 2
2-63175868-A-T c.1887A>T p.S629= Synonymous 13/23 - 2
2-63175872-TC-CT c.1891_1892delinsCT p.S631L Missense 13/23 - 1
2-63175875-G-A c.1894G>A p.D632N Missense 13/23 - 1
2-63175886-A-C c.1905A>C p.G635= Synonymous 13/23 - 1
2-63175886-A-G c.1905A>G p.G635= Synonymous 13/23 - 1
2-63175886-A-T c.1905A>T p.G635= Synonymous 13/23 - 1
2-63175897-A-G c.1916A>G p.N639S Missense 13/23 - 1
2-63175900-C-T c.1919C>T p.T640I Missense 13/23 - 1
2-63175905-T-A c.1924T>A p.S642T Missense 13/23 - 1
2-63175914-G-A c.1933G>A p.A645T Missense 13/23 - 1
2-63175918-A-G c.1937A>G p.Q646R Missense 13/23 - 1
2-63175930-GC-AG c.1949_1950delinsAG p.G650E Missense 13/23 - 1
2-63175932-A-G c.1951A>G p.K651E Missense 13/23 - 1
2-63175939-G-C c.1958G>C p.R653T Missense 13/23 - 1
2-63175941-C-T c.1960C>T p.L654= Synonymous 13/23 - 1
2-63175952-T-A c.1971T>A p.A657= Synonymous 13/23 - 1
2-63175952-T-C c.1971T>C p.A657= Synonymous 13/23 - 1
2-63175952-T-G c.1971T>G p.A657= Synonymous 13/23 - 1
2-63175956-A-T c.1975A>T p.T659S Missense 13/23 - 1
2-63175957-C-G c.1976C>G p.T659S Missense 13/23 - 2
2-63175960-T-C c.1979T>C p.L660S Missense 13/23 - 1
2-63175962-G-A c.1981G>A p.E661K Missense 13/23 - 1
2-63175973-C-T c.1992C>T p.D664= Synonymous 13/23 - 1
2-63175976-A-C c.1995A>C p.L665F Missense 13/23 - 1
2-63175976-A-T c.1995A>T p.L665F Missense 13/23 - 1
2-63175978-A-G c.1997A>G p.Y666C Missense 13/23 - 1
2-63175981-T-C c.2000T>C p.V667A Missense 13/23 - 1
2-63175989-A-G c.2008A>G p.K670E Missense 13/23 - 1
2-63175991-G-C c.2010G>C p.K670N Missense 13/23 - 2
2-63175991-G-T c.2010G>T p.K670N Missense 13/23 - 2
2-63175999-A-T c.2018A>T p.D673V Missense 13/23 - 1
2-63176003-G-T c.2022G>T p.M674I Missense 13/23 - 1
2-63176013-T-C c.2032T>C p.F678L Missense 13/23 - 1
2-63176015-T-A c.2034T>A p.F678L Missense 13/23 - 1
2-63176015-T-G c.2034T>G p.F678L Missense 13/23 - 1
2-63176014-T-A c.2033T>A p.F678Y Missense 13/23 - 1
2-63176044-T-C c.2063T>C p.L688P Missense 13/23 - 1
2-63176048-A-G c.2067A>G p.Q689= Synonymous 13/23 - 1
2-63176050-C-T c.2069C>T p.T690I Missense 13/23 - 1
2-63176052-CTA-ATG c.2071_2073delinsATG p.L691M Missense 13/23 - 1
2-63176053-T-A c.2072T>A p.L691Q Missense 13/23 - 1
2-63176060-C-A c.2079C>A p.I693= Synonymous 13/23 - 1
2-63176060-C-T c.2079C>T p.I693= Synonymous 13/23 - 2
2-63176068-A-G c.2087A>G p.N696S Missense 13/23 - 1
2-63176072-G-C c.2091G>C p.L697F Missense 13/23 - 2
2-63176074-A-G c.2093A>G p.E698G Missense 13/23 - 1
2-63176075-G-A c.2094G>A p.E698= Synonymous 13/23 - 1
2-63176078-A-G c.2097A>G p.K699= Synonymous 13/23 - 1
2-63176082-A-G c.2101A>G p.K701E Missense 13/23 - 1
2-63176088-G-A c.2107G>A p.E703K Missense 13/23 - 1
2-63176090-G-C c.2109G>C p.E703D Missense 13/23 - 1
2-63176090-G-T c.2109G>T p.E703D Missense 13/23 - 1
2-63176092-A-G c.2111A>G p.N704S Missense 13/23 - 1
2-63176097-A-C c.2116A>C p.R706= Synonymous 13/23 - 5
2-63176097-AGA-TGT c.2116_2118delinsTGT p.R706C Missense 13/23 - 1
2-63176106-G-A c.2125G>A p.E709K Missense 13/23 - 1
2-63176109-TG-AC c.2128_2129delinsAC p.C710T Missense 13/23 - 1
2-63176110-G-A c.2129G>A p.C710Y Missense 13/23 - 2
2-63176110-G-T c.2129G>T p.C710F Missense 13/23 - 1
2-63176119-A-C c.2138A>C p.D713A Missense 13/23 - 1
2-63176119-A-G c.2138A>G p.D713G Missense 13/23 - 1
2-63176121-C-T c.2140C>T p.P714S Missense 13/23 - 1
2-63176122-C-T c.2141C>T p.P714L Missense 13/23 - 1
2-63176125-A-C c.2144A>C p.E715A Missense 13/23 - 1
2-63176127-TC-CT c.2146_2147delinsCT p.S716L Missense 13/23 - 1
2-63176129-T-A c.2148T>A p.S716= Synonymous 13/23 - 1
2-63176129-T-C c.2148T>C p.S716= Synonymous 13/23 - 1
2-63176129-T-G c.2148T>G p.S716= Synonymous 13/23 - 1
2-63176133-A-G c.2152A>G p.I718V Missense 13/23 - 1
2-63176134-T-C c.2153T>C p.I718T Missense 13/23 - 1
2-63176137-A-C c.2156A>C p.K719T Missense 13/23 - 1
2-63176137-A-T c.2156A>T p.K719I Missense 13/23 - 1
2-63176139-A-C c.2158A>C p.K720Q Missense 13/23 - 11
2-63176135-C-CA c.2161dup p.T721Nfs*8 Frameshift 13/23 - 1
2-63176145-A-G c.2164A>G p.S722G Missense 13/23 - 1
2-63176145-A-T c.2164A>T p.S722C Missense 13/23 - 1
2-63176148-TT-CC c.2167_2168delinsCC p.L723P Missense 13/23 - 1
2-63176152-CT-AA c.2171_2172delinsAA p.S724* Nonsense 13/23 - 1
2-63176154-C-G c.2173C>G p.P725A Missense 13/23 - 1
2-63176154-C-T c.2173C>T p.P725S Missense 13/23 - 1
2-63176155-C-T c.2174C>T p.P725L Missense 13/23 - 1
2-63176157-A-G c.2176A>G p.T726A Missense 13/23 - 1
2-63176159-T-A c.2178T>A p.T726= Synonymous 13/23 - 1
2-63176159-T-C c.2178T>C p.T726= Synonymous 13/23 - 1
2-63176159-T-G c.2178T>G p.T726= Synonymous 13/23 - 1
2-63176163-A-G c.2182A>G p.K728E Missense 13/23 - 1
2-63176167-T-C c.2186T>C p.L729P Missense 13/23 - 1
2-63176170-G-T c.2189G>T p.G730V Missense 13/23 - 2
2-63176179-A-G c.2198A>G p.Y733C Missense 13/23 - 6
2-63176179-A-T c.2198A>T p.Y733F Missense 13/23 - 1
2-63176184-AGA-TGT c.2203_2205delinsTGT p.R735C Missense 13/23 - 1
2-63176196-C-G c.2215C>G p.L739V Missense 13/23 - 1
2-63176208-A-T c.2227A>T p.K743* Nonsense 13/23 - 1
2-63176212-ATGC-A c.2233_2235del p.A745del InFrameDeletion 13/23 - 1
2-63176214-G-C c.2233G>C p.A745P Missense 13/23 - 1
2-63176220-C-T c.2239C>T p.L747= Synonymous 13/23 - 2
2-63176222-G-C c.2241G>C p.L747= Synonymous 13/23 - 1
2-63176225-G-C c.2244G>C p.R748S Missense 13/23 - 1
2-63176225-G-T c.2244G>T p.R748S Missense 13/23 - 1
2-63176230-CG-AC c.2249_2250delinsAC p.T750N Missense 13/23 - 1
2-63176237-T-A c.2256T>A p.S752= Synonymous 13/23 - 1
2-63176237-T-C c.2256T>C p.S752= Synonymous 13/23 - 1
2-63176237-T-G c.2256T>G p.S752= Synonymous 13/23 - 1
2-63176240-T-TA c.2259_2260insA p.P754Tfs*4 Frameshift 13/23 - 1
2-63176243-A-C c.2262A>C p.P754= Synonymous 13/23 - 1
2-63176250-G-C c.2269G>C p.D757H Missense 13/23 - 1
2-63176268-C-T c.2287C>T p.H763Y Missense 13/23 - 1
2-63176269-A-G c.2288A>G p.H763R Missense 13/23 - 1
2-63176288-A-T c.2307A>T p.K769N Missense 13/23 - 1
2-63178111-C-T c.2316+1814C>T - IntronicSNV - 13/22 5
2-63180774-A-G c.2317-1878A>G - IntronicSNV - 13/22 1
2-63181494-C-A c.2317-1158C>A - IntronicSNV - 13/22 1
2-63181494-C-T c.2317-1158C>T - IntronicSNV - 13/22 1
2-63182655-C-T c.2320C>T p.R774* Nonsense 14/23 - 1
2-63182656-G-A c.2321G>A p.R774Q Missense 14/23 - 1
2-63182660-G-C c.2325G>C p.L775F Missense 14/23 - 1
2-63182660-G-T c.2325G>T p.L775F Missense 14/23 - 1
2-63182665-C-A c.2330C>A p.S777Y Missense 14/23 - 3
2-63182665-C-T c.2330C>T p.S777F Missense 14/23 - 2
2-63182668-G-GA c.2334dup p.Q779Tfs*5 Frameshift 14/23 - 1
2-63182670-C-T c.2335C>T p.Q779* Nonsense 14/23 - 2
2-63182671-A-T c.2336A>T p.Q779L Missense 14/23 - 1
2-63182676-G-A c.2341G>A p.E781K Missense 14/23 - 1
2-63182681-T-A c.2346T>A p.L782= Synonymous 14/23 - 1
2-63182681-T-C c.2346T>C p.L782= Synonymous 14/23 - 1
2-63182681-T-G c.2346T>G p.L782= Synonymous 14/23 - 1
2-63182682-A-G c.2347A>G p.K783E Missense 14/23 - 1
2-63182685-G-A c.2350G>A p.E784K Missense 14/23 - 1
2-63182692-C-T c.2357C>T p.A786V Missense 14/23 - 1
2-63182694-A-G c.2359A>G p.R787G Missense 14/23 - 1
2-63182697-G-A c.2362G>A p.V788I Missense 14/23 - 1
2-63182700-CTG-TTT c.2365_2367delinsTTT p.L789F Missense 14/23 - 1
2-63182706-G-A c.2371G>A p.E791K Missense 14/23 - 1
2-63182706-G-T c.2371G>T p.E791* Nonsense 14/23 - 1
2-63182708-G-C c.2373G>C p.E791D Missense 14/23 - 1
2-63182708-G-T c.2373G>T p.E791D Missense 14/23 - 1
2-63182718-A-T c.2383A>T p.R795* Nonsense 14/23 - 1
2-63182720-A-C c.2385A>C p.R795S Missense 14/23 - 1
2-63182727-G-A c.2392G>A p.A798T Missense 14/23 - 1
2-63182734-AG-A c.2401del p.A801Rfs*18 Frameshift 14/23 - 1
2-63182759-C-A c.2424C>A p.N808K Missense 14/23 - 1
2-63182760-A-C c.2425A>C p.T809P Missense 14/23 - 1
2-63182766-A-G c.2431A>G p.T811A Missense 14/23 - 1
2-63182767-C-T c.2432C>T p.T811I Missense 14/23 - 1
2-63182768-C-T c.2433C>T p.T811= Synonymous 14/23 - 1
2-63182770-C-A c.2435C>A p.P812Q Missense 14/23 - 1
2-63182783-G-C c.2448G>C p.R816S Missense 14/23 - 1
2-63182783-G-T c.2448G>T p.R816S Missense 14/23 - 1
2-63182785-A-G c.2450A>G p.Q817R Missense 14/23 - 1
2-63182788-T-A c.2453T>A p.L818Q Missense 14/23 - 1
2-63182788-T-C c.2453T>C p.L818P Missense 14/23 - 1
2-63182792-T-C c.2457T>C p.S819= Synonymous 14/23 - 1
2-63182793-G-T c.2458G>T p.D820Y Missense 14/23 - 1
2-63182822-A-G c.2460+27A>G - IntronicSNV - 14/22 1
2-63182965-T-A c.2460+170T>A - IntronicSNV - 14/22 1
2-63204611-C-T c.2461-1712C>T - IntronicSNV - 14/22 1
2-63206323-GC-G c.2461del p.Q821Sfs*10 Frameshift 15/23 - 1
2-63206325-G-A c.2463G>A p.Q821= Synonymous 15/23 - 2
2-63206325-G-C c.2463G>C p.Q821H Missense 15/23 - 2
2-63206330-A-T c.2468A>T p.D823V Missense 15/23 - 1
2-63206333-AAG-A c.2474_2475del p.E825Afs*30 Frameshift 15/23 - 1
2-63206338-C-A c.2476C>A p.R826= Synonymous 15/23 - 2
2-63206338-C-T c.2476C>T p.R826* Nonsense 15/23 - 1
2-63206340-A-C c.2478A>C p.R826= Synonymous 15/23 - 1
2-63206340-A-G c.2478A>G p.R826= Synonymous 15/23 - 1
2-63206340-A-T c.2478A>T p.R826= Synonymous 15/23 - 1
2-63206339-G-A c.2477G>A p.R826Q Missense 15/23 - 1
2-63206341-CG-AT c.2479_2480delinsAT p.R827I Missense 15/23 - 1
2-63206341-C-T c.2479C>T p.R827C Missense 15/23 - 3
2-63206344-C-T c.2482C>T p.R828W Missense 15/23 - 4
2-63206345-G-A c.2483G>A p.R828Q Missense 15/23 - 2
2-63206351-TGA-T c.2499_2500del p.R833Sfs*22 Frameshift 15/23 - 1
2-63206359-A-C c.2497A>C p.R833= Synonymous 15/23 - 1
2-63206361-A-G c.2499A>G p.R833= Synonymous 15/23 - 1
2-63206362-G-A c.2500G>A p.A834T Missense 15/23 - 1
2-63206367-T-C c.2505T>C p.R835= Synonymous 15/23 - 1
2-63206383-G-T c.2521G>T p.A841S Missense 15/23 - 1
2-63206384-C-T c.2522C>T p.A841V Missense 15/23 - 1
2-63206386-C-G c.2524C>G p.R842G Missense 15/23 - 1
2-63206387-G-A c.2525G>A p.R842Q Missense 15/23 - 1
2-63206387-G-C c.2525G>C p.R842P Missense 15/23 - 1
2-63206387-G-T c.2525G>T p.R842L Missense 15/23 - 1
2-63206390-C-G c.2528C>G p.S843C Missense 15/23 - 2
2-63206395-G-A c.2533G>A p.V845M Missense 15/23 - 1
2-63206396-T-C c.2534T>C p.V845A Missense 15/23 - 1
2-63206397-G-A c.2535G>A p.V845= Synonymous 15/23 - 2
2-63206399-A-G c.2537A>G p.K846R Missense 15/23 - 1
2-63206420-A-G c.2558A>G p.Y853C Missense 15/23 - 2
2-63206420-A-T c.2558A>T p.Y853F Missense 15/23 - 1
2-63206429-T-C c.2567T>C p.M856T Missense 15/23 - 1
2-63206438-A-T c.2576A>T p.E859V Missense 15/23 - 1
2-63206443-T-C c.2581T>C p.L861= Synonymous 15/23 - 1
2-63206445-G-A c.2583G>A p.L861= Synonymous 15/23 - 1
2-63206452-A-G c.2590A>G p.R864G Missense 15/23 - 1
2-63206452-AG-CA c.2590_2591delinsCA p.R864Q Missense 15/23 - 1
2-63206453-G-A c.2591G>A p.R864K Missense 15/23 - 1
2-63206453-G-T c.2591G>T p.R864M Missense 15/23 - 1
2-63206454-G-T c.2592G>T p.R864S Missense 15/23 - 1
2-63206458-A-G c.2596A>G p.K866E Missense 15/23 - 1
2-63206466-CTG-C c.2604_2605del p.G869Rfs*5 Frameshift 15/23 - 1
2-63206467-GGA-AGC c.2605_2607delinsAGC p.G869S Missense 15/23 - 1
2-63206470-G-A c.2608G>A p.E870K Missense 15/23 - 1
2-63206488-C-G c.2608+18C>G - IntronicSNV - 15/22 1
2-63213970-T-C c.2609-3881T>C - IntronicSNV - 15/22 7
2-63215068-G-A c.2609-2783G>A - IntronicSNV - 15/22 1
2-63215071-A-G c.2609-2780A>G - IntronicSNV - 15/22 1
2-63215072-A-G c.2609-2779A>G - IntronicSNV - 15/22 1
2-63215072-A-T c.2609-2779A>T - IntronicSNV - 15/22 1
2-63215086-A-G c.2609-2765A>G - IntronicSNV - 15/22 1
2-63215097-C-G c.2609-2754C>G - IntronicSNV - 15/22 1
2-63215097-C-T c.2609-2754C>T - IntronicSNV - 15/22 1
2-63215137-G-A c.2609-2714G>A - IntronicSNV - 15/22 1
2-63215151-A-C c.2609-2700A>C - IntronicSNV - 15/22 1
2-63215155-A-G c.2609-2696A>G - IntronicSNV - 15/22 1
2-63217854-A-G c.2612A>G p.Q871R Missense 16/23 - 1
2-63217857-A-T c.2615A>T p.N872I Missense 16/23 - 1
2-63217870-G-A c.2628G>A p.V876= Synonymous 16/23 - 1
2-63217870-G-C c.2628G>C p.V876= Synonymous 16/23 - 1
2-63217870-G-T c.2628G>T p.V876= Synonymous 16/23 - 1
2-63217871-G-A c.2629G>A p.D877N Missense 16/23 - 1
2-63217871-G-T c.2629G>T p.D877Y Missense 16/23 - 1
2-63217873-C-A c.2631C>A p.D877E Missense 16/23 - 1
2-63217879-G-A c.2637G>A p.K879= Synonymous 16/23 - 1
2-63217882-G-A c.2640G>A p.L880= Synonymous 16/23 - 1
2-63217888-G-A c.2646G>A p.K882= Synonymous 16/23 - 1
2-63217895-G-A c.2653G>A p.E885K Missense 16/23 - 2
2-63217898-G-A c.2656G>A p.V886I Missense 16/23 - 2
2-63217920-CA-TT c.2678_2679delinsTT p.S893F Missense 16/23 - 1
2-63217931-G-A c.2689G>A p.A897T Missense 16/23 - 1
2-63217934-G-T c.2692G>T p.A898S Missense 16/23 - 1
2-63217946-G-A c.2704G>A p.V902I Missense 16/23 - 1
2-63217952-G-A c.2710G>A p.E904K Missense 16/23 - 1
2-63217967-G-T c.2725G>T p.D909Y Missense 16/23 - 1
2-63220661-T-C c.2734-4T>C - IntronicSNV - 16/22 1
2-63220664-G-GA c.2734dup p.S912Kfs*9 SpliceAcceptorInsertion 17/23 - 1
2-63220667-GT-G c.2736del p.S912Rfs*48 Frameshift 17/23 - 1
2-63220670-C-A c.2739C>A p.G913= Synonymous 17/23 - 1
2-63220671-A-G c.2740A>G p.T914A Missense 17/23 - 1
2-63220672-C-T c.2741C>T p.T914I Missense 17/23 - 5
2-63220677-G-A c.2746G>A p.D916N Missense 17/23 - 1
2-63220677-G-T c.2746G>T p.D916Y Missense 17/23 - 1
2-63220680-C-G c.2749C>G p.L917V Missense 17/23 - 2
2-63220680-C-T c.2749C>T p.L917F Missense 17/23 - 1
2-63220683-C-T c.2752C>T p.R918W Missense 17/23 - 1
2-63220684-G-A c.2753G>A p.R918Q Missense 17/23 - 2
2-63220713-C-T c.2782C>T p.R928C Missense 17/23 - 1
2-63220724-T-C c.2793T>C p.N931= Synonymous 17/23 - 1
2-63220731-G-T c.2800G>T p.V934L Missense 17/23 - 1
2-63220737-AG-CC c.2806_2807delinsCC p.S936P Missense 17/23 - 1
2-63220742-A-G c.2811A>G p.K937= Synonymous 17/23 - 1
2-63220743-G-A c.2812G>A p.D938N Missense 17/23 - 1
2-63220747-C-G c.2816C>G p.S939C Missense 17/23 - 1
2-63220750-C-T c.2819C>T p.T940I Missense 17/23 - 5
2-63220755-AG-CC c.2824_2825delinsCC p.R942P Missense 17/23 - 1
2-63220767-C-T c.2836C>T p.L946F Missense 17/23 - 1
2-63220772-G-A c.2841G>A p.Q947= Synonymous 17/23 - 1
2-63220774-C-A c.2843C>A p.S948Y Missense 17/23 - 1
2-63220780-G-A c.2849G>A p.S950N Missense 17/23 - 1
2-63220783-A-C c.2852A>C p.Q951P Missense 17/23 - 1
2-63220789-T-C c.2858T>C p.I953T Missense 17/23 - 1
2-63220800-C-A c.2869C>A p.P957T Missense 17/23 - 1
2-63221016-G-T c.2883G>T p.R961S Missense 18/23 - 1
2-63221020-A-C c.2887A>C p.R963= Synonymous 18/23 - 1
2-63221024-C-G c.2891C>G p.S964* Nonsense 18/23 - 1
2-63221025-A-C c.2892A>C p.S964= Synonymous 18/23 - 1
2-63221025-A-G c.2892A>G p.S964= Synonymous 18/23 - 1
2-63221025-A-T c.2892A>T p.S964= Synonymous 18/23 - 1
2-63221046-A-C c.2913A>C p.K971N Missense 18/23 - 1
2-63221046-A-T c.2913A>T p.K971N Missense 18/23 - 1
2-63221047-G-A c.2914G>A p.G972R Missense 18/23 - 1
2-63221047-G-C c.2914G>C p.G972R Missense 18/23 - 1
2-63221055-G-C c.2922G>C p.E974D Missense 18/23 - 1
2-63221055-G-T c.2922G>T p.E974D Missense 18/23 - 1
2-63221056-G-A c.2923G>A p.E975K Missense 18/23 - 6
2-63221056-G-C c.2923G>C p.E975Q Missense 18/23 - 3
2-63221063-C-T c.2930C>T p.A977V Missense 18/23 - 2
2-63221065-G-A c.2932G>A p.A978T Missense 18/23 - 2
2-63221094-A-C c.2961A>C p.S987= Synonymous 18/23 - 1
2-63221094-A-G c.2961A>G p.S987= Synonymous 18/23 - 1
2-63221094-A-T c.2961A>T p.S987= Synonymous 18/23 - 1
2-63221096-A-C c.2963A>C p.E988A Missense 18/23 - 1
2-63221111-A-T c.2978A>T p.N993I Missense 18/23 - 1
2-63221296-A-C c.2979+184A>C - IntronicSNV - 18/22 1
2-63221296-A-T c.2979+184A>T - IntronicSNV - 18/22 1
2-63223790-G-A c.2992G>A p.D998N Missense 19/23 - 1
2-63223811-G-A c.3013G>A p.G1005R Missense 19/23 - 1
2-63223817-T-G c.3019T>G p.L1007V Missense 19/23 - 1
2-63223825-A-C c.3027A>C p.A1009= Synonymous 19/23 - 1
2-63223825-A-G c.3027A>G p.A1009= Synonymous 19/23 - 1
2-63223825-A-T c.3027A>T p.A1009= Synonymous 19/23 - 1
2-63223852-C-A c.3054C>A p.D1018E Missense 19/23 - 1
2-63223854-C-A c.3056C>A p.T1019N Missense 19/23 - 1
2-63223854-C-G c.3056C>G p.T1019S Missense 19/23 - 1
2-63223854-C-T c.3056C>T p.T1019I Missense 19/23 - 2
2-63223855-C-A c.3057C>A p.T1019= Synonymous 19/23 - 2
2-63223855-C-G c.3057C>G p.T1019= Synonymous 19/23 - 1
2-63223855-C-T c.3057C>T p.T1019= Synonymous 19/23 - 1
2-63223856-CG-AC c.3058_3059delinsAC p.R1020T Missense 19/23 - 1
2-63223862-G-A c.3064G>A p.A1022T Missense 19/23 - 1
2-63223863-C-T c.3065C>T p.A1022V Missense 19/23 - 1
2-63223874-A-G c.3076A>G p.K1026E Missense 19/23 - 1
2-63223876-G-C c.3078G>C p.K1026N Missense 19/23 - 1
2-63223877-CG-AT c.3079_3080delinsAT p.R1027I Missense 19/23 - 1
2-63223879-C-A c.3081C>A p.R1027= Synonymous 19/23 - 1
2-63223879-C-G c.3081C>G p.R1027= Synonymous 19/23 - 1
2-63223879-C-T c.3081C>T p.R1027= Synonymous 19/23 - 1
2-63223880-C-T c.3082C>T p.L1028F Missense 19/23 - 1
2-63223884-G-A c.3086G>A p.R1029H Missense 19/23 - 1
2-63223884-GC-AA c.3086_3087delinsAA p.R1029Q Missense 19/23 - 1
2-63223894-G-A c.3096G>A p.M1032I Missense 19/23 - 1
2-63224008-C-G c.3103+107C>G - IntronicSNV - 19/22 1
2-63224031-C-A c.3103+130C>A - IntronicSNV - 19/22 1
2-63224031-C-T c.3103+130C>T - IntronicSNV - 19/22 1
2-63240730-A-G c.3103+16829A>G - IntronicSNV - 19/22 1
2-63246969-A-G c.3104-17701A>G - IntronicSNV - 19/22 1
2-63253481-C-G c.3104-11189C>G - IntronicSNV - 19/22 1
2-63259881-C-G c.3104-4789C>G - IntronicSNV - 19/22 1
2-63259881-C-T c.3104-4789C>T - IntronicSNV - 19/22 1
2-63264676-A-G c.3110A>G p.N1037S Missense 20/23 - 1
2-63264691-A-G c.3125A>G p.E1042G Missense 20/23 - 1
2-63264696-A-G c.3130A>G p.M1044V Missense 20/23 - 1
2-63264704-G-A c.3138G>A p.Q1046= Synonymous 20/23 - 1
2-63264717-T-C c.3151T>C p.L1051= Synonymous 20/23 - 1
2-63264719-A-G c.3153A>G p.L1051= Synonymous 20/23 - 1
2-63264721-T-C c.3155T>C p.V1052A Missense 20/23 - 1
2-63264735-G-A c.3169G>A p.A1057T Missense 20/23 - 1
2-63264744-A-C c.3178A>C p.R1060= Synonymous 20/23 - 1
2-63264746-G-A c.3180G>A p.R1060= Synonymous 20/23 - 1
2-63264751-T-C c.3185T>C p.M1062T Missense 20/23 - 1
2-63264763-C-G c.3197C>G p.S1066C Missense 20/23 - 1
2-63265900-C-A c.3226C>A p.R1076= Synonymous 21/23 - 1
2-63265900-C-G c.3226C>G p.R1076G Missense 21/23 - 1
2-63265900-C-T c.3226C>T p.R1076* Nonsense 21/23 - 1
2-63265901-G-A c.3227G>A p.R1076Q Missense 21/23 - 1
2-63265901-G-C c.3227G>C p.R1076P Missense 21/23 - 1
2-63265920-C-T c.3246C>T p.N1082= Synonymous 21/23 - 1
2-63265921-C-T c.3247C>T p.R1083W Missense 21/23 - 1
2-63265922-G-A c.3248G>A p.R1083Q Missense 21/23 - 1
2-63265922-G-T c.3248G>T p.R1083L Missense 21/23 - 1
2-63265924-G-C c.3250G>C p.E1084Q Missense 21/23 - 1
2-63265926-A-C c.3252A>C p.E1084D Missense 21/23 - 1
2-63265926-A-T c.3252A>T p.E1084D Missense 21/23 - 1
2-63265928-T-C c.3254T>C p.L1085S Missense 21/23 - 1
2-63265928-T-TACCTTTTAC c.3254_3255insACCTTTTAC p.L1085_R1086insPFT InFrameInsertion 21/23 - 1
2-63265933-G-GCTC c.3260_3261insTCC p.A1087_M1088insP InFrameInsertion 21/23 - 1
2-63265937-T-C c.3263T>C p.M1088T Missense 21/23 - 3
2-63265937-T-TTCC c.3263_3264insTCC p.M1088delinsIP MultiAAMissense 21/23 - 1
2-63265942-G-A c.3268G>A p.A1090T Missense 21/23 - 1
2-63265944-C-A c.3270C>A p.A1090= Synonymous 21/23 - 1
2-63265951-G-A c.3277G>A p.D1093N Missense 21/23 - 1
2-63265951-G-T c.3277G>T p.D1093Y Missense 21/23 - 1
2-63265952-G-T c.3277+1G>T - IntronicSNV - 21/22 1
2-63265968-T-G c.3277+17T>G - IntronicSNV - 21/22 1
2-63268631-C-A c.3277+2680C>A - IntronicSNV - 21/22 1
2-63268631-C-T c.3277+2680C>T - IntronicSNV - 21/22 1
2-63271552-A-T c.3278-649A>T - IntronicSNV - 21/22 1
2-63271662-A-G c.3278-539A>G - IntronicSNV - 21/22 1
2-63272159-G-T c.3278-42G>T - IntronicSNV - 21/22 1
2-63272205-G-A c.3282G>A p.W1094* Nonsense 22/23 - 2
2-63272221-C-T c.3298C>T p.Q1100* Nonsense 22/23 - 5
2-63272227-C-A c.3304C>A p.R1102= Synonymous 22/23 - 1
2-63272227-C-T c.3304C>T p.R1102* Nonsense 22/23 - 2
2-63272229-A-C c.3306A>C p.R1102= Synonymous 22/23 - 1
2-63272229-A-G c.3306A>G p.R1102= Synonymous 22/23 - 1
2-63272229-A-T c.3306A>T p.R1102= Synonymous 22/23 - 1
2-63272228-GA-AT c.3305_3306delinsAT p.R1102H Missense 22/23 - 1
2-63272230-CGC-TGG c.3307_3309delinsTGG p.R1103W Missense 22/23 - 1
2-63272238-G-C c.3315G>C p.Q1105H Missense 22/23 - 1
2-63272238-G-T c.3315G>T p.Q1105H Missense 22/23 - 1
2-63272265-G-A c.3342G>A p.L1114= Synonymous 22/23 - 1
2-63272266-G-T c.3343G>T p.V1115L Missense 22/23 - 1
2-63272268-G-A c.3345G>A p.V1115= Synonymous 22/23 - 2
2-63272270-A-T c.3347A>T p.N1116I Missense 22/23 - 1
2-63272273-A-G c.3350A>G p.K1117R Missense 22/23 - 1
2-63272274-G-A c.3351G>A p.K1117= Synonymous 22/23 - 1
2-63272282-C-A c.3359C>A p.A1120E Missense 22/23 - 1
2-63272282-C-T c.3359C>T p.A1120V Missense 22/23 - 1
2-63272286-C-T c.3363C>T p.L1121= Synonymous 22/23 - 2
2-63272287-G-A c.3364G>A p.V1122I Missense 22/23 - 1
2-63272291-G-GTCC c.3368_3369insTCC p.R1123delinsSP MultiAAMissense 22/23 - 1
2-63272294-A-ATCC c.3371_3372insTCC p.D1124_L1125insP InFrameInsertion 22/23 - 1
2-63272302-G-T c.3379G>T p.A1127S Missense 22/23 - 1
2-63272303-C-T c.3380C>T p.A1127V Missense 22/23 - 1
2-63272304-G-A c.3381G>A p.A1127= Synonymous 22/23 - 1
2-63272305-C-T c.3382C>T p.Q1128* Nonsense 22/23 - 1
2-63272307-G-A c.3384G>A p.Q1128= Synonymous 22/23 - 1
2-63272308-G-T c.3385G>T p.E1129* Nonsense 22/23 - 2
2-63272548-C-A c.3396C>A p.A1132= Synonymous 23/23 - 1
2-63272549-G-A c.3397G>A p.E1133K Missense 23/23 - 1
2-63272550-A-T c.3398A>T p.E1133V Missense 23/23 - 1
2-63272554-A-AT c.3402_3403insT p.E1135* Nonsense 23/23 - 1
2-63272562-A-G c.3410A>G p.E1137G Missense 23/23 - 1
2-63272570-G-A c.3418G>A p.E1140K Missense 23/23 - 1
2-63272574-G-A c.3422G>A p.R1141Q Missense 23/23 - 1
2-63272574-G-C c.3422G>C p.R1141P Missense 23/23 - 1
2-63272577-C-T c.3425C>T p.T1142I Missense 23/23 - 1
2-63272579-C-G c.3427C>G p.L1143V Missense 23/23 - 1
2-63272589-A-G c.3437A>G p.N1146S Missense 23/23 - 1
2-63272595-G-T c.3443G>T p.G1148V Missense 23/23 - 1
2-63272596-C-T c.3444C>T p.G1148= Synonymous 23/23 - 1
2-63272599-G-C c.3447G>C p.K1149N Missense 23/23 - 1
2-63272604-C-T c.3452C>T p.A1151V Missense 23/23 - 1
2-63272610-A-C c.3458A>C p.K1153T Missense 23/23 - 1
2-63272614-G-T c.3462G>T p.E1154D Missense 23/23 - 1
2-63272620-A-G c.3468A>G p.K1156= Synonymous 23/23 - 1
2-63272621-T-A c.3469T>A p.C1157S Missense 23/23 - 1
2-63272622-G-C c.3470G>C p.C1157S Missense 23/23 - 1
2-63272622-G-T c.3470G>T p.C1157F Missense 23/23 - 1
2-63272624-G-A c.3472G>A p.V1158I Missense 23/23 - 1
2-63272625-T-TTCC c.3475_3476insCTC p.V1158_L1159insP InFrameInsertion 23/23 - 1
2-63272627-C-T c.3475C>T p.L1159F Missense 23/23 - 1
2-63272628-T-C c.3476T>C p.L1159P Missense 23/23 - 1
2-63272628-T-TTCC c.3478_3479insCTC p.L1159_Q1160insP InFrameInsertion 23/23 - 1
2-63272632-G-C c.3480G>C p.Q1160H Missense 23/23 - 1
2-63272724-T-C c.*89T>C - 3-UTRSNV 23/23 - 15