TET1

TET1 tet methylcytosine dioxygenase 1

Annotation transcript: NM_030625.3

2826 unique variant annotations were identified in 1110 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-70320381-C-A c.-241C>A - 5_prime_UTR_variant 1/12 - 2
10-70320483-A-G c.-139A>G - 5_prime_UTR_variant 1/12 - 3
10-70332066-C-A c.-30C>A - 5-UTRSNV 2/12 - 14
10-70332066-C-T c.-30C>T - 5-UTRSNV 2/12 - 14
10-70332100-C-G c.5C>G p.S2C Missense 2/12 - 1
10-70332101-T-A c.6T>A p.S2= Synonymous 2/12 - 1
10-70332101-T-C c.6T>C p.S2= Synonymous 2/12 - 1
10-70332101-T-G c.6T>G p.S2= Synonymous 2/12 - 1
10-70332103-G-A c.8G>A p.R3Q Missense 2/12 - 5
10-70332106-C-T c.11C>T p.S4F Missense 2/12 - 3
10-70332108-CGC-TGA c.13_15delinsTGA p.R5* Nonsense 2/12 - 1
10-70332108-C-T c.13C>T p.R5C Missense 2/12 - 3
10-70332111-C-T c.16C>T p.H6Y Missense 2/12 - 1
10-70332117-A-T c.22A>T p.R8W Missense 2/12 - 1
10-70332118-G-A c.23G>A p.R8K Missense 2/12 - 7
10-70332119-GC-CT c.24_25delinsCT p.R8_P9delinsSS MultiAAMissense 2/12 - 1
10-70332120-C-T c.25C>T p.P9S Missense 2/12 - 2
10-70332121-C-T c.26C>T p.P9L Missense 2/12 - 1
10-70332123-T-C c.28T>C p.S10P Missense 2/12 - 1
10-70332123-TC-CA c.28_29delinsCA p.S10H Missense 2/12 - 2
10-70332123-TCC-GAG c.28_30delinsGAG p.S10E Missense 2/12 - 6
10-70332123-TC-GA c.28_29inv p.S10D Missense 2/12 - 11
10-70332123-TC-GG c.28_29delinsGG p.S10G Missense 2/12 - 2
10-70332123-T-G c.28T>G p.S10A Missense 2/12 - 32
10-70332124-C-G c.29C>G p.S10C Missense 2/12 - 18
10-70332124-C-T c.29C>T p.S10F Missense 2/12 - 2
10-70332127-G-C c.32G>C p.R11T Missense 2/12 - 2
10-70332130-T-C c.35T>C p.L12S Missense 2/12 - 3
10-70332132-G-A c.37G>A p.V13I Missense 2/12 - 1
10-70332136-G-A c.41G>A p.R14K Missense 2/12 - 1
10-70332135-A-C c.40A>C p.R14= Synonymous 2/12 - 1
10-70332137-G-A c.42G>A p.R14= Synonymous 2/12 - 2
10-70332141-G-A c.46G>A p.E16K Missense 2/12 - 2
10-70332142-A-C c.47A>C p.E16A Missense 2/12 - 1
10-70332142-A-G c.47A>G p.E16G Missense 2/12 - 1
10-70332144-G-A c.49G>A p.D17N Missense 2/12 - 3
10-70332152-AC-A c.57del p.N19Kfs*26 Frameshift 2/12 - 1
10-70332152-C-A c.57C>A p.N19K Missense 2/12 - 3
10-70332152-C-CT c.57_58insT p.K20* Nonsense 2/12 - 2
10-70332154-A-G c.59A>G p.K20R Missense 2/12 - 2
10-70332158-A-AT c.63_64insT p.K22* Nonsense 2/12 - 1
10-70332152-CA-C c.65del p.K22Rfs*23 Frameshift 2/12 - 7
10-70332152-C-CA c.65dup p.K23Efs*37 Frameshift 2/12 - 2
10-70332160-A-AG c.66dup p.K23Efs*37 Frameshift 2/12 - 1
10-70332161-G-C c.66G>C p.K22N Missense 2/12 - 2
10-70332161-G-GT c.66_67insT p.K23* Nonsense 2/12 - 2
10-70332161-G-T c.66G>T p.K22N Missense 2/12 - 2
10-70332161-G-GA c.71dup p.N24Kfs*36 Frameshift 2/12 - 1
10-70332166-A-G c.71A>G p.N24S Missense 2/12 - 1
10-70332168-A-G c.73A>G p.S25G Missense 2/12 - 1
10-70332168-AG-GA c.73_74delinsGA p.S25D Missense 2/12 - 1
10-70332168-AG-GC c.73_74delinsGC p.S25A Missense 2/12 - 1
10-70332168-AG-TT c.73_74delinsTT p.S25F Missense 2/12 - 1
10-70332168-A-T c.73A>T p.S25C Missense 2/12 - 1
10-70332169-G-T c.74G>T p.S25I Missense 2/12 - 2
10-70332168-A-C c.73A>C p.S25R Missense 2/12 - 1
10-70332170-C-A c.75C>A p.S25R Missense 2/12 - 1
10-70332170-C-G c.75C>G p.S25R Missense 2/12 - 1
10-70332174-C-G c.79C>G p.L27V Missense 2/12 - 1
10-70332178-G-A c.83G>A p.R28Q Missense 2/12 - 4
10-70332178-G-T c.83G>T p.R28L Missense 2/12 - 1
10-70332180-AA-GT c.85_86delinsGT p.K29V Missense 2/12 - 1
10-70332190-A-C c.95A>C p.K32T Missense 2/12 - 1
10-70332191-G-C c.96G>C p.K32N Missense 2/12 - 2
10-70332191-G-T c.96G>T p.K32N Missense 2/12 - 2
10-70332192-G-T c.97G>T p.G33* Nonsense 2/12 - 1
10-70332193-G-C c.98G>C p.G33A Missense 2/12 - 1
10-70332195-GCC-TAA c.100_102delinsTAA p.A34* Nonsense 2/12 - 1
10-70332196-C-A c.101C>A p.A34D Missense 2/12 - 1
10-70332196-C-T c.101C>T p.A34V Missense 2/12 - 2
10-70332198-A-G c.103A>G p.N35D Missense 2/12 - 1
10-70332200-C-A c.105C>A p.N35K Missense 2/12 - 2
10-70332200-C-G c.105C>G p.N35K Missense 2/12 - 2
10-70332202-AA-TG c.107_108delinsTG p.K36M Missense 2/12 - 2
10-70332203-A-C c.108A>C p.K36N Missense 2/12 - 1
10-70332203-A-G c.108A>G p.K36= Synonymous 2/12 - 1
10-70332203-A-T c.108A>T p.K36N Missense 2/12 - 1
10-70332207-G-T c.112G>T p.V38L Missense 2/12 - 1
10-70332210-GC-AT c.115_116delinsAT p.A39I Missense 2/12 - 1
10-70332212-A-C c.117A>C p.A39= Synonymous 2/12 - 1
10-70332212-A-G c.117A>G p.A39= Synonymous 2/12 - 1
10-70332212-A-T c.117A>T p.A39= Synonymous 2/12 - 1
10-70332213-T-G c.118T>G p.S40A Missense 2/12 - 1
10-70332214-C-A c.119C>A p.S40* Nonsense 2/12 - 1
10-70332214-C-G c.119C>G p.S40* Nonsense 2/12 - 1
10-70332216-G-C c.121G>C p.V41L Missense 2/12 - 1
10-70332216-G-T c.121G>T p.V41F Missense 2/12 - 1
10-70332217-T-G c.122T>G p.V41G Missense 2/12 - 1
10-70332219-A-G c.124A>G p.K42E Missense 2/12 - 1
10-70332220-A-G c.125A>G p.K42R Missense 2/12 - 1
10-70332230-C-T c.135C>T p.S45= Synonymous 2/12 - 1
10-70332231-C-T c.136C>T p.P46S Missense 2/12 - 1
10-70332237-A-C c.142A>C p.K48Q Missense 2/12 - 4
10-70332240-TT-AG c.145_146delinsAG p.L49R Missense 2/12 - 1
10-70332242-A-C c.147A>C p.L49F Missense 2/12 - 1
10-70332242-A-T c.147A>T p.L49F Missense 2/12 - 1
10-70332243-A-G c.148A>G p.K50E Missense 2/12 - 1
10-70332258-G-A c.163G>A p.E55K Missense 2/12 - 1
10-70332258-GAA-TTT c.163_165delinsTTT p.E55F Missense 2/12 - 1
10-70332258-G-T c.163G>T p.E55* Nonsense 2/12 - 1
10-70332259-A-G c.164A>G p.E55G Missense 2/12 - 1
10-70332260-A-C c.165A>C p.E55D Missense 2/12 - 1
10-70332260-A-T c.165A>T p.E55D Missense 2/12 - 1
10-70332262-G-A c.167G>A p.R56K Missense 2/12 - 2
10-70332263-A-AT c.168_169insT p.D57* Nonsense 2/12 - 1
10-70332267-G-A c.172G>A p.V58I Missense 2/12 - 2
10-70332267-G-T c.172G>T p.V58F Missense 2/12 - 4
10-70332271-A-G c.176A>G p.K59R Missense 2/12 - 1
10-70332272-G-C c.177G>C p.K59N Missense 2/12 - 2
10-70332272-G-T c.177G>T p.K59N Missense 2/12 - 2
10-70332276-A-T c.181A>T p.K61* Nonsense 2/12 - 1
10-70332278-A-G c.183A>G p.K61= Synonymous 2/12 - 1
10-70332272-GA-G c.184del p.T62Qfs*13 Frameshift 2/12 - 1
10-70332272-G-GA c.184dup p.T62Nfs*4 Frameshift 2/12 - 2
10-70332279-A-G c.184A>G p.T62A Missense 2/12 - 4
10-70332281-A-C c.186A>C p.T62= Synonymous 2/12 - 1
10-70332281-A-G c.186A>G p.T62= Synonymous 2/12 - 1
10-70332281-A-T c.186A>T p.T62= Synonymous 2/12 - 1
10-70332283-A-C c.188A>C p.E63A Missense 2/12 - 1
10-70332285-C-A c.190C>A p.P64T Missense 2/12 - 1
10-70332286-C-T c.191C>T p.P64L Missense 2/12 - 1
10-70332289-A-T c.194A>T p.K65I Missense 2/12 - 1
10-70332292-C-T c.197C>T p.P66L Missense 2/12 - 7
10-70332296-C-A c.201C>A p.P67= Synonymous 2/12 - 1
10-70332296-C-G c.201C>G p.P67= Synonymous 2/12 - 1
10-70332296-C-T c.201C>T p.P67= Synonymous 2/12 - 1
10-70332297-G-A c.202G>A p.V68M Missense 2/12 - 8
10-70332297-GTG-AAC c.202_204delinsAAC p.V68N Missense 2/12 - 1
10-70332298-T-G c.203T>G p.V68G Missense 2/12 - 1
10-70332300-C-T c.205C>T p.P69S Missense 2/12 - 1
10-70332306-AGA-CAT c.211_213delinsCAT p.R71H Missense 2/12 - 1
10-70332306-AG-CA c.211_212delinsCA p.R71Q Missense 2/12 - 1
10-70332311-C-G c.216C>G p.S72R Missense 2/12 - 1
10-70332312-C-G c.217C>G p.L73V Missense 2/12 - 1
10-70332312-C-T c.217C>T p.L73F Missense 2/12 - 2
10-70332315-C-A c.220C>A p.L74M Missense 2/12 - 2
10-70332319-C-G c.224C>G p.T75R Missense 2/12 - 2
10-70332319-C-T c.224C>T p.T75I Missense 2/12 - 1
10-70332321-AGA-TGG c.226_228delinsTGG p.R76W Missense 2/12 - 1
10-70332321-AGA-TGT c.226_228delinsTGT p.R76C Missense 2/12 - 1
10-70332326-T-A c.231T>A p.A77= Synonymous 2/12 - 1
10-70332326-T-C c.231T>C p.A77= Synonymous 2/12 - 1
10-70332326-T-G c.231T>G p.A77= Synonymous 2/12 - 1
10-70332327-G-C c.232G>C p.G78R Missense 2/12 - 1
10-70332328-G-A c.233G>A p.G78E Missense 2/12 - 2
10-70332331-C-T c.236C>T p.A79V Missense 2/12 - 1
10-70332333-GCA-TTT c.238_240delinsTTT p.A80F Missense 2/12 - 1
10-70332334-C-G c.239C>G p.A80G Missense 2/12 - 1
10-70332336-C-T c.241C>T p.R81C Missense 2/12 - 1
10-70332337-G-A c.242G>A p.R81H Missense 2/12 - 12
10-70332337-G-T c.242G>T p.R81L Missense 2/12 - 1
10-70332339-A-G c.244A>G p.M82V Missense 2/12 - 2
10-70332340-T-A c.245T>A p.M82K Missense 2/12 - 1
10-70332341-G-A c.246G>A p.M82I Missense 2/12 - 1
10-70332342-A-T c.247A>T p.N83Y Missense 2/12 - 1
10-70332347-G-C c.252G>C p.L84F Missense 2/12 - 1
10-70332347-G-T c.252G>T p.L84F Missense 2/12 - 1
10-70332348-G-A c.253G>A p.D85N Missense 2/12 - 2
10-70332352-G-T c.257G>T p.R86M Missense 2/12 - 1
10-70332354-A-T c.259A>T p.T87S Missense 2/12 - 4
10-70332355-C-G c.260C>G p.T87S Missense 2/12 - 9
10-70332357-G-A c.262G>A p.E88K Missense 2/12 - 1
10-70332359-G-A c.264G>A p.E88= Synonymous 2/12 - 1
10-70332360-G-A c.265G>A p.V89I Missense 2/12 - 1
10-70332363-C-A c.268C>A p.L90I Missense 2/12 - 1
10-70332363-C-G c.268C>G p.L90V Missense 2/12 - 1
10-70332365-T-A c.270T>A p.L90= Synonymous 2/12 - 2
10-70332366-T-C c.271T>C p.F91L Missense 2/12 - 1
10-70332368-T-A c.273T>A p.F91L Missense 2/12 - 1
10-70332368-T-G c.273T>G p.F91L Missense 2/12 - 1
10-70332369-C-G c.274C>G p.Q92E Missense 2/12 - 3
10-70332370-A-G c.275A>G p.Q92R Missense 2/12 - 1
10-70332373-A-G c.278A>G p.N93S Missense 2/12 - 1
10-70332375-C-A c.280C>A p.P94T Missense 2/12 - 1
10-70332375-C-T c.280C>T p.P94S Missense 2/12 - 1
10-70332376-C-T c.281C>T p.P94L Missense 2/12 - 1
10-70332378-G-C c.283G>C p.E95Q Missense 2/12 - 1
10-70332379-A-G c.284A>G p.E95G Missense 2/12 - 4
10-70332381-TC-CA c.286_287delinsCA p.S96H Missense 2/12 - 1
10-70332383-C-G c.288C>G p.S96= Synonymous 2/12 - 1
10-70332386-A-C c.291A>C p.L97F Missense 2/12 - 1
10-70332385-T-TA c.292dup p.T98Nfs*15 Frameshift 2/12 - 1
10-70332387-AC-GG c.292_293delinsGG p.T98G Missense 2/12 - 11
10-70332399-T-C c.304T>C p.F102L Missense 2/12 - 1
10-70332401-T-A c.306T>A p.F102L Missense 2/12 - 1
10-70332401-T-G c.306T>G p.F102L Missense 2/12 - 1
10-70332400-TT-GG c.305_306delinsGG p.F102W Missense 2/12 - 1
10-70332402-A-G c.307A>G p.T103A Missense 2/12 - 1
10-70332407-G-A c.312G>A p.M104I Missense 2/12 - 1
10-70332408-G-A c.313G>A p.A105T Missense 2/12 - 2
10-70332409-C-T c.314C>T p.A105V Missense 2/12 - 3
10-70332410-G-A c.315G>A p.A105= Synonymous 2/12 - 4
10-70332410-G-C c.315G>C p.A105= Synonymous 2/12 - 1
10-70332410-G-T c.315G>T p.A105= Synonymous 2/12 - 1
10-70332414-CGA-TGG c.319_321delinsTGG p.R107W Missense 2/12 - 1
10-70332414-CG-GA c.319_320delinsGA p.R107E Missense 2/12 - 1
10-70332414-C-T c.319C>T p.R107* Nonsense 2/12 - 5
10-70332415-G-A c.320G>A p.R107Q Missense 2/12 - 7
10-70332420-A-G c.325A>G p.T109A Missense 2/12 - 1
10-70332424-C-A c.329C>A p.S110Y Missense 2/12 - 1
10-70332426-C-A c.331C>A p.L111I Missense 2/12 - 1
10-70332426-C-G c.331C>G p.L111V Missense 2/12 - 1
10-70332429-A-G c.334A>G p.S112G Missense 2/12 - 1
10-70332432-AGG-TGT c.337_339delinsTGT p.R113C Missense 2/12 - 1
10-70332432-A-T c.337A>T p.R113W Missense 2/12 - 1
10-70332435-C-T c.340C>T p.R114* Nonsense 2/12 - 1
10-70332436-G-A c.341G>A p.R114Q Missense 2/12 - 3
10-70332439-T-C c.344T>C p.L115P Missense 2/12 - 2
10-70332441-T-G c.346T>G p.S116A Missense 2/12 - 1
10-70332442-C-T c.347C>T p.S116F Missense 2/12 - 6
10-70332444-C-T c.349C>T p.Q117* Nonsense 2/12 - 2
10-70332448-C-T c.353C>T p.P118L Missense 2/12 - 2
10-70332454-T-C c.359T>C p.L120P Missense 2/12 - 1
10-70332454-T-G c.359T>G p.L120R Missense 2/12 - 3
10-70332456-G-T c.361G>T p.V121F Missense 2/12 - 1
10-70332459-G-A c.364G>A p.V122I Missense 2/12 - 6
10-70332462-G-A c.367G>A p.A123T Missense 2/12 - 1
10-70332463-C-A c.368C>A p.A123D Missense 2/12 - 2
10-70332463-C-G c.368C>G p.A123G Missense 2/12 - 1
10-70332464-CA-C c.372del p.K124Nfs*11 Frameshift 2/12 - 1
10-70332467-A-T c.372A>T p.K124N Missense 2/12 - 1
10-70332468-T-A c.373T>A p.S125T Missense 2/12 - 1
10-70332469-C-T c.374C>T p.S125F Missense 2/12 - 2
10-70332470-C-T c.375C>T p.S125= Synonymous 2/12 - 2
10-70332476-G-A c.381G>A p.K127= Synonymous 2/12 - 2
10-70332477-G-A c.382G>A p.V128I Missense 2/12 - 2
10-70332477-G-C c.382G>C p.V128L Missense 2/12 - 4
10-70332477-G-T c.382G>T p.V128F Missense 2/12 - 12
10-70332480-C-A c.385C>A p.P129T Missense 2/12 - 1
10-70332480-C-T c.385C>T p.P129S Missense 2/12 - 1
10-70332481-C-T c.386C>T p.P129L Missense 2/12 - 1
10-70332484-T-G c.389T>G p.L130R Missense 2/12 - 1
10-70332485-T-A c.390T>A p.L130= Synonymous 2/12 - 1
10-70332485-T-C c.390T>C p.L130= Synonymous 2/12 - 1
10-70332485-T-G c.390T>G p.L130= Synonymous 2/12 - 1
10-70332487-C-G c.392C>G p.S131C Missense 2/12 - 2
10-70332495-TT-CC c.400_401delinsCC p.L134P Missense 2/12 - 1
10-70332496-T-G c.401T>G p.L134* Nonsense 2/12 - 1
10-70332497-A-AT c.402_403insT p.E135* Nonsense 2/12 - 1
10-70332497-A-C c.402A>C p.L134F Missense 2/12 - 1
10-70332507-C-T c.412C>T p.H138Y Missense 2/12 - 1
10-70332508-A-G c.413A>G p.H138R Missense 2/12 - 1
10-70332509-T-A c.414T>A p.H138Q Missense 2/12 - 1
10-70332509-T-G c.414T>G p.H138Q Missense 2/12 - 1
10-70332510-G-A c.415G>A p.D139N Missense 2/12 - 3
10-70332514-G-A c.419G>A p.C140Y Missense 2/12 - 1
10-70332520-A-G c.425A>G p.Y142C Missense 2/12 - 1
10-70332521-T-A c.426T>A p.Y142* Nonsense 2/12 - 1
10-70332521-T-G c.426T>G p.Y142* Nonsense 2/12 - 1
10-70332525-A-G c.430A>G p.I144V Missense 2/12 - 3
10-70332527-A-G c.432A>G p.I144M Missense 2/12 - 1
10-70332531-C-T c.436C>T p.P146S Missense 2/12 - 2
10-70332538-T-A c.443T>A p.L148* Nonsense 2/12 - 2
10-70332540-G-A c.445G>A p.G149R Missense 2/12 - 1
10-70332542-A-ACC c.447_448insCC p.V150Pfs*2 Frameshift 2/12 - 1
10-70332543-G-A c.448G>A p.V150I Missense 2/12 - 1
10-70332547-A-G c.452A>G p.K151R Missense 2/12 - 3
10-70332548-G-A c.453G>A p.K151= Synonymous 2/12 - 1
10-70332549-C-T c.454C>T p.H152Y Missense 2/12 - 1
10-70332550-A-G c.455A>G p.H152R Missense 2/12 - 1
10-70332553-C-A c.458C>A p.S153* Nonsense 2/12 - 1
10-70332553-CA-TT c.458_459delinsTT p.S153F Missense 2/12 - 1
10-70332553-C-G c.458C>G p.S153* Nonsense 2/12 - 1
10-70332555-G-C c.460G>C p.E154Q Missense 2/12 - 1
10-70332558-A-C c.463A>C p.N155H Missense 2/12 - 1
10-70332562-A-G c.467A>G p.D156G Missense 2/12 - 1
10-70332565-C-T c.470C>T p.S157L Missense 2/12 - 5
10-70332566-G-A c.471G>A p.S157= Synonymous 2/12 - 1
10-70332566-G-C c.471G>C p.S157= Synonymous 2/12 - 1
10-70332566-G-T c.471G>T p.S157= Synonymous 2/12 - 1
10-70332569-T-A c.474T>A p.V158= Synonymous 2/12 - 1
10-70332569-T-C c.474T>C p.V158= Synonymous 2/12 - 1
10-70332569-T-G c.474T>G p.V158= Synonymous 2/12 - 1
10-70332571-C-T c.476C>T p.P159L Missense 2/12 - 1
10-70332574-T-C c.479T>C p.M160T Missense 2/12 - 1
10-70332580-A-G c.485A>G p.D162G Missense 2/12 - 42
10-70332581-AC-A c.486del p.D162Efs*8 Frameshift 2/12 - 1
10-70332581-C-T c.486C>T p.D162= Synonymous 2/12 - 2
10-70332585-C-T c.490C>T p.Q164* Nonsense 2/12 - 2
10-70332586-A-G c.491A>G p.Q164R Missense 2/12 - 1
10-70332587-A-G c.492A>G p.Q164= Synonymous 2/12 - 1
10-70332588-G-C c.493G>C p.V165L Missense 2/12 - 3
10-70332590-C-T c.495C>T p.V165= Synonymous 2/12 - 1
10-70332591-C-T c.496C>T p.L166F Missense 2/12 - 1
10-70332594-C-T c.499C>T p.P167S Missense 2/12 - 2
10-70332597-G-A c.502G>A p.D168N Missense 2/12 - 1
10-70332597-G-C c.502G>C p.D168H Missense 2/12 - 1
10-70332599-T-C c.504T>C p.D168= Synonymous 2/12 - 1
10-70332600-A-G c.505A>G p.I169V Missense 2/12 - 2
10-70332605-G-A c.510G>A p.E170= Synonymous 2/12 - 1
10-70332605-G-C c.510G>C p.E170D Missense 2/12 - 1
10-70332605-G-T c.510G>T p.E170D Missense 2/12 - 1
10-70332606-A-G c.511A>G p.T171A Missense 2/12 - 1
10-70332606-GACT-G c.511_513del p.T171del InFrameDeletion 2/12 - 1
10-70332607-C-T c.512C>T p.T171I Missense 2/12 - 2
10-70332609-C-A c.514C>A p.L172I Missense 2/12 - 2
10-70332613-T-C c.518T>C p.I173T Missense 2/12 - 7
10-70332618-G-A c.523G>A p.V175I Missense 2/12 - 1
10-70332621-C-A c.526C>A p.Q176K Missense 2/12 - 1
10-70332622-A-G c.527A>G p.Q176R Missense 2/12 - 5
10-70332624-AA-GG c.529_530delinsGG p.N177G Missense 2/12 - 1
10-70332625-A-C c.530A>C p.N177T Missense 2/12 - 5
10-70332627-CC-TT c.532_533delinsTT p.P178F Missense 2/12 - 5
10-70332628-C-T c.533C>T p.P178L Missense 2/12 - 4
10-70332631-C-T c.536C>T p.S179F Missense 2/12 - 3
10-70332634-T-C c.539T>C p.L180S Missense 2/12 - 1
10-70332639-A-G c.544A>G p.K182E Missense 2/12 - 1
10-70332642-G-T c.547G>T p.G183C Missense 2/12 - 1
10-70332643-GT-AG c.548_549delinsAG p.G183E Missense 2/12 - 1
10-70332647-G-A c.552G>A p.K184= Synonymous 2/12 - 1
10-70332647-G-C c.552G>C p.K184N Missense 2/12 - 1
10-70332648-AG-TA c.553_554delinsTA p.S185Y Missense 2/12 - 1
10-70332649-G-A c.554G>A p.S185N Missense 2/12 - 5
10-70332653-A-C c.558A>C p.Q186H Missense 2/12 - 2
10-70332653-A-T c.558A>T p.Q186H Missense 2/12 - 3
10-70332654-G-A c.559G>A p.E187K Missense 2/12 - 1
10-70332656-G-C c.561G>C p.E187D Missense 2/12 - 1
10-70332658-C-T c.563C>T p.T188I Missense 2/12 - 2
10-70332660-A-G c.565A>G p.T189A Missense 2/12 - 1
10-70332663-C-G c.568C>G p.Q190E Missense 2/12 - 1
10-70332670-G-A c.575G>A p.W192* Nonsense 2/12 - 1
10-70332670-G-T c.575G>T p.W192L Missense 2/12 - 1
10-70332671-G-A c.576G>A p.W192* Nonsense 2/12 - 1
10-70332671-G-C c.576G>C p.W192C Missense 2/12 - 1
10-70332672-T-A c.577T>A p.S193T Missense 2/12 - 31
10-70332672-T-C c.577T>C p.S193P Missense 2/12 - 1
10-70332674-C-A c.579C>A p.S193= Synonymous 2/12 - 3
10-70332674-C-G c.579C>G p.S193= Synonymous 2/12 - 3
10-70332674-C-T c.579C>T p.S193= Synonymous 2/12 - 3
10-70332678-A-G c.583A>G p.R195G Missense 2/12 - 1
10-70332684-G-C c.589G>C p.E197Q Missense 2/12 - 1
10-70332684-TG-T c.589del p.E197Rfs*37 Frameshift 2/12 - 1
10-70332687-G-A c.592G>A p.D198N Missense 2/12 - 1
10-70332691-C-A c.596C>A p.S199Y Missense 2/12 - 2
10-70332691-C-T c.596C>T p.S199F Missense 2/12 - 1
10-70332692-C-A c.597C>A p.S199= Synonymous 2/12 - 1
10-70332692-C-G c.597C>G p.S199= Synonymous 2/12 - 1
10-70332692-C-T c.597C>T p.S199= Synonymous 2/12 - 1
10-70332693-A-G c.598A>G p.K200E Missense 2/12 - 1
10-70332694-A-C c.599A>C p.K200T Missense 2/12 - 1
10-70332694-A-T c.599A>T p.K200M Missense 2/12 - 1
10-70332695-G-C c.600G>C p.K200N Missense 2/12 - 1
10-70332695-G-T c.600G>T p.K200N Missense 2/12 - 1
10-70332700-A-T c.605A>T p.N202I Missense 2/12 - 1
10-70332705-C-T c.610C>T p.P204S Missense 2/12 - 2
10-70332706-C-A c.611C>A p.P204H Missense 2/12 - 1
10-70332706-C-G c.611C>G p.P204R Missense 2/12 - 1
10-70332707-T-A c.612T>A p.P204= Synonymous 2/12 - 1
10-70332707-T-C c.612T>C p.P204= Synonymous 2/12 - 2
10-70332707-T-G c.612T>G p.P204= Synonymous 2/12 - 1
10-70332717-G-A c.622G>A p.G208S Missense 2/12 - 2
10-70332719-C-A c.624C>A p.G208= Synonymous 2/12 - 1
10-70332719-C-G c.624C>G p.G208= Synonymous 2/12 - 1
10-70332719-C-T c.624C>T p.G208= Synonymous 2/12 - 1
10-70332720-C-T c.625C>T p.P209S Missense 2/12 - 2
10-70332721-C-T c.626C>T p.P209L Missense 2/12 - 1
10-70332723-G-C c.628G>C p.A210P Missense 2/12 - 1
10-70332728-T-A c.633T>A p.A211= Synonymous 2/12 - 1
10-70332728-T-C c.633T>C p.A211= Synonymous 2/12 - 1
10-70332728-T-G c.633T>G p.A211= Synonymous 2/12 - 1
10-70332729-G-C c.634G>C p.E212Q Missense 2/12 - 1
10-70332731-G-C c.636G>C p.E212D Missense 2/12 - 2
10-70332731-G-T c.636G>T p.E212D Missense 2/12 - 2
10-70332733-T-C c.638T>C p.I213T Missense 2/12 - 1
10-70332735-C-A c.640C>A p.L214I Missense 2/12 - 1
10-70332737-T-A c.642T>A p.L214= Synonymous 2/12 - 1
10-70332737-T-C c.642T>C p.L214= Synonymous 2/12 - 1
10-70332737-T-G c.642T>G p.L214= Synonymous 2/12 - 1
10-70332738-C-T c.643C>T p.P215S Missense 2/12 - 1
10-70332742-G-T c.647G>T p.G216V Missense 2/12 - 1
10-70332745-C-A c.650C>A p.P217Q Missense 2/12 - 1
10-70332748-T-C c.653T>C p.L218P Missense 2/12 - 1
10-70332747-C-T c.652C>T p.L218= Synonymous 2/12 - 1
10-70332749-G-A c.654G>A p.L218= Synonymous 2/12 - 1
10-70332749-G-C c.654G>C p.L218= Synonymous 2/12 - 1
10-70332749-G-T c.654G>T p.L218= Synonymous 2/12 - 1
10-70332750-G-A c.655G>A p.E219K Missense 2/12 - 1
10-70332751-A-G c.656A>G p.E219G Missense 2/12 - 2
10-70332757-C-A c.662C>A p.T221K Missense 2/12 - 1
10-70332759-C-G c.664C>G p.R222G Missense 2/12 - 2
10-70332759-CG-AT c.664_665delinsAT p.R222I Missense 2/12 - 1
10-70332760-G-A c.665G>A p.R222H Missense 2/12 - 1
10-70332760-G-T c.665G>T p.R222L Missense 2/12 - 2
10-70332763-G-T c.668G>T p.C223F Missense 2/12 - 2
10-70332766-G-A c.671G>A p.G224D Missense 2/12 - 1
10-70332768-G-A c.673G>A p.E225K Missense 2/12 - 1
10-70332774-CT-TC c.679_680delinsTC p.L227S Missense 2/12 - 1
10-70332779-C-T c.684C>T p.F228= Synonymous 2/12 - 1
10-70332781-C-T c.686C>T p.S229F Missense 2/12 - 1
10-70332788-G-A c.693G>A p.E231= Synonymous 2/12 - 1
10-70332790-C-A c.695C>A p.T232K Missense 2/12 - 2
10-70332790-C-T c.695C>T p.T232I Missense 2/12 - 1
10-70332792-T-C c.697T>C p.L233= Synonymous 2/12 - 1
10-70332794-G-C c.699G>C p.L233F Missense 2/12 - 1
10-70332794-G-T c.699G>T p.L233F Missense 2/12 - 1
10-70332798-G-A c.703G>A p.D235N Missense 2/12 - 2
10-70332800-T-C c.705T>C p.D235= Synonymous 2/12 - 1
10-70332800-T-TA c.706dup p.T236Nfs*46 Frameshift 2/12 - 1
10-70332801-TA-T c.706del p.T236Pfs*35 Frameshift 2/12 - 1
10-70332805-G-A c.710G>A p.S237N Missense 2/12 - 1
10-70332808-G-A c.713G>A p.G238D Missense 2/12 - 2
10-70332811-C-T c.716C>T p.S239F Missense 2/12 - 2
10-70332813-C-T c.718C>T p.P240S Missense 2/12 - 3
10-70332814-C-A c.719C>A p.P240Q Missense 2/12 - 3
10-70332818-A-C c.723A>C p.K241N Missense 2/12 - 1
10-70332818-A-T c.723A>T p.K241N Missense 2/12 - 1
10-70332820-T-C c.725T>C p.M242T Missense 2/12 - 1
10-70332825-G-A c.730G>A p.A244T Missense 2/12 - 1
10-70332825-G-T c.730G>T p.A244S Missense 2/12 - 2
10-70332826-C-T c.731C>T p.A244V Missense 2/12 - 1
10-70332828-C-A c.733C>A p.Q245K Missense 2/12 - 1
10-70332828-C-T c.733C>T p.Q245* Nonsense 2/12 - 2
10-70332829-A-T c.734A>T p.Q245L Missense 2/12 - 1
10-70332831-G-C c.736G>C p.D246H Missense 2/12 - 1
10-70332835-C-A c.740C>A p.T247K Missense 2/12 - 1
10-70332835-C-T c.740C>T p.T247I Missense 2/12 - 1
10-70332841-G-A c.746G>A p.C249Y Missense 2/12 - 1
10-70332846-C-G c.751C>G p.P251A Missense 2/12 - 1
10-70332847-C-A c.752C>A p.P251H Missense 2/12 - 1
10-70332849-T-G c.754T>G p.F252V Missense 2/12 - 8
10-70332852-C-T c.757C>T p.P253S Missense 2/12 - 7
10-70332855-C-G c.760C>G p.Q254E Missense 2/12 - 2
10-70332859-G-A c.764G>A p.R255K Missense 2/12 - 2
10-70332862-C-A c.767C>A p.A256E Missense 2/12 - 4
10-70332862-C-T c.767C>T p.A256V Missense 2/12 - 31
10-70332863-A-C c.768A>C p.A256= Synonymous 2/12 - 2
10-70332863-A-G c.768A>G p.A256= Synonymous 2/12 - 2
10-70332863-A-T c.768A>T p.A256= Synonymous 2/12 - 2
10-70332864-AC-TG c.769_770delinsTG p.T257C Missense 2/12 - 1
10-70332864-A-T c.769A>T p.T257S Missense 2/12 - 1
10-70332865-C-G c.770C>G p.T257S Missense 2/12 - 1
10-70332865-C-T c.770C>T p.T257I Missense 2/12 - 3
10-70332869-C-T c.774C>T p.P258= Synonymous 2/12 - 1
10-70332872-A-ATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTG c.777_778insTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTG p.V260Lfs*2 Frameshift 2/12 - 1
10-70332872-A-C c.777A>C p.K259N Missense 2/12 - 3
10-70332872-A-T c.777A>T p.K259N Missense 2/12 - 3
10-70332873-G-C c.778G>C p.V260L Missense 2/12 - 1
10-70332874-T-A c.779T>A p.V260D Missense 2/12 - 1
10-70332876-A-C c.781A>C p.T261P Missense 2/12 - 2
10-70332877-C-A c.782C>A p.T261N Missense 2/12 - 1
10-70332880-C-A c.785C>A p.S262Y Missense 2/12 - 1
10-70332882-C-T c.787C>T p.Q263* Nonsense 2/12 - 3
10-70332883-A-C c.788A>C p.Q263P Missense 2/12 - 1
10-70332883-A-G c.788A>G p.Q263R Missense 2/12 - 5
10-70332885-G-T c.790G>T p.G264* Nonsense 2/12 - 2
10-70332888-A-G c.793A>G p.N265D Missense 2/12 - 3
10-70332886-G-GA c.794dup p.N265Kfs*17 Frameshift 2/12 - 1
10-70332889-A-G c.794A>G p.N265S Missense 2/12 - 1
10-70332891-C-G c.796C>G p.P266A Missense 2/12 - 7
10-70332895-G-T c.800G>T p.S267I Missense 2/12 - 1
10-70332898-T-C c.803T>C p.I268T Missense 2/12 - 1
10-70332899-T-A c.804T>A p.I268= Synonymous 2/12 - 1
10-70332899-T-C c.804T>C p.I268= Synonymous 2/12 - 1
10-70332900-C-G c.805C>G p.Q269E Missense 2/12 - 1
10-70332904-T-C c.809T>C p.L270S Missense 2/12 - 2
10-70332909-G-A c.814G>A p.E272K Missense 2/12 - 1
10-70332909-G-C c.814G>C p.E272Q Missense 2/12 - 1
10-70332910-A-T c.815A>T p.E272V Missense 2/12 - 1
10-70332914-G-T c.819G>T p.L273F Missense 2/12 - 1
10-70332915-G-A c.820G>A p.G274S Missense 2/12 - 2
10-70332916-G-GT c.823dup p.S275Ffs*7 Frameshift 2/12 - 1
10-70332919-CA-GT c.824_825delinsGT p.S275C Missense 2/12 - 1
10-70332919-C-T c.824C>T p.S275L Missense 2/12 - 2
10-70332921-C-T c.826C>T p.R276* Nonsense 2/12 - 4
10-70332927-G-T c.832G>T p.E278* Nonsense 2/12 - 1
10-70332931-C-A c.836C>A p.S279Y Missense 2/12 - 3
10-70332931-C-T c.836C>T p.S279F Missense 2/12 - 1
10-70332937-A-G c.842A>G p.K281R Missense 2/12 - 1
10-70332938-G-C c.843G>C p.K281N Missense 2/12 - 3
10-70332938-G-T c.843G>T p.K281N Missense 2/12 - 2
10-70332939-T-A c.844T>A p.L282I Missense 2/12 - 1
10-70332942-T-C c.847T>C p.S283P Missense 2/12 - 1
10-70332943-C-T c.848C>T p.S283F Missense 2/12 - 1
10-70332949-C-A c.854C>A p.S285Y Missense 2/12 - 1
10-70332954-C-T c.859C>T p.L287= Synonymous 2/12 - 1
10-70332956-G-A c.861G>A p.L287= Synonymous 2/12 - 2
10-70332956-G-C c.861G>C p.L287= Synonymous 2/12 - 1
10-70332956-G-T c.861G>T p.L287= Synonymous 2/12 - 1
10-70332957-G-A c.862G>A p.D288N Missense 2/12 - 1
10-70332962-C-A c.867C>A p.P289= Synonymous 2/12 - 1
10-70332963-A-G c.868A>G p.I290V Missense 2/12 - 1
10-70332972-G-A c.877G>A p.E293K Missense 2/12 - 2
10-70332974-A-C c.879A>C p.E293D Missense 2/12 - 1
10-70332974-A-T c.879A>T p.E293D Missense 2/12 - 2
10-70332976-A-C c.881A>C p.H294P Missense 2/12 - 1
10-70332977-T-A c.882T>A p.H294Q Missense 2/12 - 1
10-70332977-T-G c.882T>G p.H294Q Missense 2/12 - 1
10-70332981-T-C c.886T>C p.C296R Missense 2/12 - 1
10-70332982-G-T c.887G>T p.C296F Missense 2/12 - 1
10-70332983-C-T c.888C>T p.C296= Synonymous 2/12 - 1
10-70332986-C-T c.891C>T p.Y297= Synonymous 2/12 - 4
10-70332987-C-T c.892C>T p.P298S Missense 2/12 - 1
10-70332988-C-A c.893C>A p.P298H Missense 2/12 - 1
10-70332990-A-C c.895A>C p.T299P Missense 2/12 - 1
10-70332991-C-T c.896C>T p.T299I Missense 2/12 - 1
10-70332992-C-A c.897C>A p.T299= Synonymous 2/12 - 1
10-70332992-C-G c.897C>G p.T299= Synonymous 2/12 - 1
10-70332992-C-T c.897C>T p.T299= Synonymous 2/12 - 2
10-70332999-C-T c.904C>T p.L302F Missense 2/12 - 1
10-70333010-T-A c.915T>A p.V305= Synonymous 2/12 - 1
10-70333010-T-C c.915T>C p.V305= Synonymous 2/12 - 1
10-70333010-T-G c.915T>G p.V305= Synonymous 2/12 - 1
10-70333012-TA-AC c.917_918delinsAC p.I306N Missense 2/12 - 1
10-70333013-A-G c.918A>G p.I306M Missense 2/12 - 4
10-70333014-C-A c.919C>A p.P307T Missense 2/12 - 1
10-70333015-C-A c.920C>A p.P307H Missense 2/12 - 3
10-70333019-C-T c.924C>T p.D308= Synonymous 2/12 - 1
10-70333027-T-C c.932T>C p.L311P Missense 2/12 - 1
10-70333030-G-A c.935G>A p.R312K Missense 2/12 - 1
10-70333030-G-T c.935G>T p.R312I Missense 2/12 - 1
10-70333034-C-T c.939C>T p.N313= Synonymous 2/12 - 2
10-70333037-C-T c.942C>T p.C314= Synonymous 2/12 - 1
10-70333039-T-G c.944T>G p.L315W Missense 2/12 - 1
10-70333041-G-A c.946G>A p.A316T Missense 2/12 - 1
10-70333042-C-T c.947C>T p.A316V Missense 2/12 - 1
10-70333044-C-T c.949C>T p.L317F Missense 2/12 - 2
10-70333047-G-A c.952G>A p.G318S Missense 2/12 - 2
10-70333051-GG-AC c.956_957delinsAC p.G319D Missense 2/12 - 1
10-70333052-G-A c.957G>A p.G319= Synonymous 2/12 - 1
10-70333054-C-T c.959C>T p.S320F Missense 2/12 - 4
10-70333054-CT-AA c.959_960delinsAA p.S320* Nonsense 2/12 - 1
10-70333057-C-T c.962C>T p.T321M Missense 2/12 - 6
10-70333058-G-A c.963G>A p.T321= Synonymous 2/12 - 2
10-70333060-C-A c.965C>A p.S322Y Missense 2/12 - 4
10-70333062-C-T c.967C>T p.P323S Missense 2/12 - 1
10-70333066-C-A c.971C>A p.T324N Missense 2/12 - 1
10-70333068-T-C c.973T>C p.S325P Missense 2/12 - 3
10-70333069-C-G c.974C>G p.S325C Missense 2/12 - 1
10-70333069-C-T c.974C>T p.S325F Missense 2/12 - 5
10-70333071-G-A c.976G>A p.V326I Missense 2/12 - 8
10-70333072-T-C c.977T>C p.V326A Missense 2/12 - 1
10-70333073-A-C c.978A>C p.V326= Synonymous 2/12 - 1
10-70333073-A-G c.978A>G p.V326= Synonymous 2/12 - 1
10-70333073-A-T c.978A>T p.V326= Synonymous 2/12 - 1
10-70333076-A-G c.981A>G p.I327M Missense 2/12 - 1
10-70333077-A-G c.982A>G p.K328E Missense 2/12 - 1
10-70333078-A-G c.983A>G p.K328R Missense 2/12 - 1
10-70333079-A-C c.984A>C p.K328N Missense 2/12 - 5
10-70333079-A-T c.984A>T p.K328N Missense 2/12 - 3
10-70333080-T-A c.985T>A p.F329I Missense 2/12 - 1
10-70333080-T-G c.985T>G p.F329V Missense 2/12 - 2
10-70333081-T-C c.986T>C p.F329S Missense 2/12 - 1
10-70333081-T-G c.986T>G p.F329C Missense 2/12 - 4
10-70333082-C-T c.987C>T p.F329= Synonymous 2/12 - 1
10-70333083-C-A c.988C>A p.L330I Missense 2/12 - 1
10-70333085-C-T c.990C>T p.L330= Synonymous 2/12 - 1
10-70333088-G-A c.993G>A p.L331= Synonymous 2/12 - 1
10-70333093-G-A c.998G>A p.G333D Missense 2/12 - 1
10-70333093-G-T c.998G>T p.G333V Missense 2/12 - 1
10-70333096-C-A c.1001C>A p.S334* Nonsense 2/12 - 1
10-70333100-A-C c.1005A>C p.K335N Missense 2/12 - 1
10-70333100-A-T c.1005A>T p.K335N Missense 2/12 - 1
10-70333101-C-A c.1006C>A p.Q336K Missense 2/12 - 1
10-70333101-C-G c.1006C>G p.Q336E Missense 2/12 - 1
10-70333101-CA-C c.1008del p.A337Rfs*29 Frameshift 2/12 - 1
10-70333105-C-G c.1010C>G p.A337G Missense 2/12 - 2
10-70333106-G-A c.1011G>A p.A337= Synonymous 2/12 - 4
10-70333106-G-C c.1011G>C p.A337= Synonymous 2/12 - 3
10-70333106-G-T c.1011G>T p.A337= Synonymous 2/12 - 3
10-70333108-C-A c.1013C>A p.T338N Missense 2/12 - 2
10-70333109-C-G c.1014C>G p.T338= Synonymous 2/12 - 1
10-70333116-G-T c.1021G>T p.A341S Missense 2/12 - 1
10-70333117-C-T c.1022C>T p.A341V Missense 2/12 - 7
10-70333119-A-G c.1024A>G p.K342E Missense 2/12 - 1
10-70333123-C-A c.1028C>A p.P343Q Missense 2/12 - 1
10-70333125-G-A c.1030G>A p.D344N Missense 2/12 - 1
10-70333128-C-A c.1033C>A p.H345N Missense 2/12 - 2
10-70333128-CA-GC c.1033_1034delinsGC p.H345A Missense 2/12 - 1
10-70333132-A-C c.1037A>C p.Q346P Missense 2/12 - 1
10-70333135-A-G c.1040A>G p.E347G Missense 2/12 - 1
10-70333138-C-G c.1043C>G p.A348G Missense 2/12 - 1
10-70333142-C-T c.1047C>T p.F349= Synonymous 2/12 - 3
10-70333143-G-A c.1048G>A p.E350K Missense 2/12 - 7
10-70333145-A-G c.1050A>G p.E350= Synonymous 2/12 - 1
10-70333146-G-A c.1051G>A p.A351T Missense 2/12 - 1
10-70333146-G-T c.1051G>T p.A351S Missense 2/12 - 1
10-70333149-A-C c.1054A>C p.T352P Missense 2/12 - 1
10-70333150-C-T c.1055C>T p.T352I Missense 2/12 - 1
10-70333156-A-T c.1061A>T p.N354I Missense 2/12 - 1
10-70333158-C-G c.1063C>G p.Q355E Missense 2/12 - 1
10-70333162-AG-A c.1069del p.E357Kfs*9 Frameshift 2/12 - 1
10-70333165-A-G c.1070A>G p.E357G Missense 2/12 - 1
10-70333166-A-C c.1071A>C p.E357D Missense 2/12 - 1
10-70333166-A-T c.1071A>T p.E357D Missense 2/12 - 1
10-70333167-G-A c.1072G>A p.V358I Missense 2/12 - 1
10-70333167-G-T c.1072G>T p.V358F Missense 2/12 - 1
10-70333170-TC-AT c.1075_1076delinsAT p.S359I Missense 2/12 - 1
10-70333171-C-G c.1076C>G p.S359C Missense 2/12 - 1
10-70333171-C-T c.1076C>T p.S359F Missense 2/12 - 4
10-70333173-G-A c.1078G>A p.D360N Missense 2/12 - 1
10-70333179-A-C c.1084A>C p.T362P Missense 2/12 - 1
10-70333179-A-G c.1084A>G p.T362A Missense 2/12 - 1
10-70333182-T-G c.1087T>G p.S363A Missense 2/12 - 2
10-70333183-C-T c.1088C>T p.S363F Missense 2/12 - 1
10-70333187-C-T c.1092C>T p.F364= Synonymous 2/12 - 6
10-70333188-C-A c.1093C>A p.L365I Missense 2/12 - 1
10-70333188-C-T c.1093C>T p.L365= Synonymous 2/12 - 5
10-70333188-CTA-TTT c.1093_1095delinsTTT p.L365F Missense 2/12 - 1
10-70333189-T-C c.1094T>C p.L365P Missense 2/12 - 1
10-70333191-G-A c.1096G>A p.G366R Missense 2/12 - 1
10-70333191-G-C c.1096G>C p.G366R Missense 2/12 - 1
10-70333191-G-T c.1096G>T p.G366* Nonsense 2/12 - 1
10-70333194-C-T c.1099C>T p.Q367* Nonsense 2/12 - 1
10-70333196-G-C c.1101G>C p.Q367H Missense 2/12 - 1
10-70333196-G-T c.1101G>T p.Q367H Missense 2/12 - 1
10-70333197-G-A c.1102G>A p.A368T Missense 2/12 - 3
10-70333197-G-C c.1102G>C p.A368P Missense 2/12 - 2
10-70333198-C-A c.1103C>A p.A368D Missense 2/12 - 2
10-70333199-C-A c.1104C>A p.A368= Synonymous 2/12 - 1
10-70333199-C-G c.1104C>G p.A368= Synonymous 2/12 - 1
10-70333199-C-T c.1104C>T p.A368= Synonymous 2/12 - 1
10-70333202-T-C c.1107T>C p.F369= Synonymous 2/12 - 1
10-70333205-T-A c.1110T>A p.G370= Synonymous 2/12 - 1
10-70333205-T-C c.1110T>C p.G370= Synonymous 2/12 - 1
10-70333205-T-G c.1110T>G p.G370= Synonymous 2/12 - 1
10-70333213-C-T c.1118C>T p.P373L Missense 2/12 - 1
10-70333214-A-AC c.1120dup p.H374Pfs*9 Frameshift 2/12 - 1
10-70333218-C-T c.1123C>T p.Q375* Nonsense 2/12 - 2
10-70333221-T-C c.1126T>C p.W376R Missense 2/12 - 2
10-70333227-C-T c.1132C>T p.L378F Missense 2/12 - 1
10-70333228-T-A c.1133T>A p.L378H Missense 2/12 - 1
10-70333230-C-T c.1135C>T p.P379S Missense 2/12 - 6
10-70333233-G-A c.1138G>A p.G380S Missense 2/12 - 1
10-70333237-C-A c.1142C>A p.A381D Missense 2/12 - 1
10-70333237-C-T c.1142C>T p.A381V Missense 2/12 - 3
10-70333240-ACC-A c.1147_1148del p.P383Sfs*4 Frameshift 2/12 - 1
10-70333243-CA-AT c.1148_1149delinsAT p.P383H Missense 2/12 - 1
10-70333243-C-T c.1148C>T p.P383L Missense 2/12 - 1
10-70333244-A-C c.1149A>C p.P383= Synonymous 2/12 - 1
10-70333244-A-G c.1149A>G p.P383= Synonymous 2/12 - 1
10-70333244-A-T c.1149A>T p.P383= Synonymous 2/12 - 1
10-70333248-C-T c.1153C>T p.H385Y Missense 2/12 - 1
10-70333249-A-G c.1154A>G p.H385R Missense 2/12 - 3
10-70333253-T-A c.1158T>A p.G386= Synonymous 2/12 - 3
10-70333253-T-C c.1158T>C p.G386= Synonymous 2/12 - 2
10-70333253-T-G c.1158T>G p.G386= Synonymous 2/12 - 2
10-70333254-G-C c.1159G>C p.E387Q Missense 2/12 - 1
10-70333256-G-C c.1161G>C p.E387D Missense 2/12 - 1
10-70333256-G-T c.1161G>T p.E387D Missense 2/12 - 1
10-70333258-C-T c.1163C>T p.A388V Missense 2/12 - 2
10-70333259-C-T c.1164C>T p.A388= Synonymous 2/12 - 1
10-70333260-CT-TC c.1165_1166delinsTC p.L389S Missense 2/12 - 1
10-70333261-T-C c.1166T>C p.L389P Missense 2/12 - 1
10-70333266-G-A c.1171G>A p.E391K Missense 2/12 - 1
10-70333266-G-C c.1171G>C p.E391Q Missense 2/12 - 2
10-70333267-A-C c.1172A>C p.E391A Missense 2/12 - 1
10-70333267-A-T c.1172A>T p.E391V Missense 2/12 - 1
10-70333270-C-G c.1175C>G p.T392S Missense 2/12 - 1
10-70333270-C-T c.1175C>T p.T392I Missense 2/12 - 1
10-70333272-C-T c.1177C>T p.P393S Missense 2/12 - 2
10-70333274-A-C c.1179A>C p.P393= Synonymous 2/12 - 1
10-70333274-A-G c.1179A>G p.P393= Synonymous 2/12 - 2
10-70333274-A-T c.1179A>T p.P393= Synonymous 2/12 - 1
10-70333275-G-A c.1180G>A p.D394N Missense 2/12 - 1
10-70333275-G-T c.1180G>T p.D394Y Missense 2/12 - 1
10-70333276-A-G c.1181A>G p.D394G Missense 2/12 - 1
10-70333278-C-A c.1183C>A p.L395I Missense 2/12 - 1
10-70333280-A-T c.1185A>T p.L395= Synonymous 2/12 - 1
10-70333284-G-A c.1189G>A p.E397K Missense 2/12 - 1
10-70333285-A-C c.1190A>C p.E397A Missense 2/12 - 2
10-70333285-A-G c.1190A>G p.E397G Missense 2/12 - 1
10-70333287-A-G c.1192A>G p.I398V Missense 2/12 - 1
10-70333290-C-T c.1195C>T p.P399S Missense 2/12 - 1
10-70333293-G-A c.1198G>A p.G400S Missense 2/12 - 1
10-70333293-G-C c.1198G>C p.G400R Missense 2/12 - 1
10-70333294-G-C c.1199G>C p.G400A Missense 2/12 - 1
10-70333295-GT-G c.1200del p.A401Lfs*13 Frameshift 2/12 - 1
10-70333298-T-C c.1203T>C p.A401= Synonymous 2/12 - 2
10-70333304-A-T c.1209A>T p.P403= Synonymous 2/12 - 1
10-70333304-CA-C c.1209del p.V404Sfs*10 Frameshift 2/12 - 1
10-70333308-C-T c.1213C>T p.Q405* Nonsense 2/12 - 5
10-70333309-A-G c.1214A>G p.Q405R Missense 2/12 - 1
10-70333311-GG-AA c.1216_1217delinsAA p.G406K Missense 2/12 - 1
10-70333312-G-A c.1217G>A p.G406E Missense 2/12 - 1
10-70333315-A-T c.1220A>T p.E407V Missense 2/12 - 1
10-70333316-G-A c.1221G>A p.E407= Synonymous 2/12 - 1
10-70333319-C-A c.1224C>A p.V408= Synonymous 2/12 - 1
10-70333319-C-G c.1224C>G p.V408= Synonymous 2/12 - 1
10-70333319-C-T c.1224C>T p.V408= Synonymous 2/12 - 1
10-70333324-GTAC-G c.1232_1234del p.T411del InFrameDeletion 2/12 - 1
10-70333327-C-A c.1232C>A p.T411N Missense 2/12 - 1
10-70333327-C-T c.1232C>T p.T411I Missense 2/12 - 1
10-70333330-T-A c.1235T>A p.I412N Missense 2/12 - 1
10-70333330-T-C c.1235T>C p.I412T Missense 2/12 - 1
10-70333333-T-TA c.1239dup p.D414Rfs*31 Frameshift 2/12 - 1
10-70333335-G-A c.1240G>A p.D414N Missense 2/12 - 2
10-70333338-C-T c.1243C>T p.Q415* Nonsense 2/12 - 1
10-70333341-C-T c.1246C>T p.Q416* Nonsense 2/12 - 1
10-70333344-G-T c.1249G>T p.E417* Nonsense 2/12 - 2
10-70333346-A-C c.1251A>C p.E417D Missense 2/12 - 1
10-70333346-A-T c.1251A>T p.E417D Missense 2/12 - 1
10-70333350-C-A c.1255C>A p.L419I Missense 2/12 - 1
10-70333350-C-G c.1255C>G p.L419V Missense 2/12 - 1
10-70333350-C-T c.1255C>T p.L419F Missense 2/12 - 1
10-70333353-G-T c.1258G>T p.G420C Missense 2/12 - 2
10-70333355-T-A c.1260T>A p.G420= Synonymous 2/12 - 1
10-70333355-T-C c.1260T>C p.G420= Synonymous 2/12 - 2
10-70333355-T-G c.1260T>G p.G420= Synonymous 2/12 - 1
10-70333359-AG-CT c.1264_1265inv p.S422L Missense 2/12 - 1
10-70333362-GG-TA c.1267_1268delinsTA p.G423* Nonsense 2/12 - 1
10-70333365-AG-GC c.1270_1271delinsGC p.S424A Missense 2/12 - 1
10-70333367-T-C c.1272T>C p.S424= Synonymous 2/12 - 1
10-70333368-G-C c.1273G>C p.V425L Missense 2/12 - 1
10-70333372-T-C c.1277T>C p.V426A Missense 2/12 - 2
10-70333375-C-T c.1280C>T p.P427L Missense 2/12 - 1
10-70333376-A-T c.1281A>T p.P427= Synonymous 2/12 - 1
10-70333377-G-T c.1282G>T p.D428Y Missense 2/12 - 1
10-70333380-T-C c.1285T>C p.L429= Synonymous 2/12 - 1
10-70333383-C-A c.1288C>A p.P430T Missense 2/12 - 1
10-70333383-C-CA c.1288_1289insA p.P430Hfs*15 Frameshift 2/12 - 1
10-70333383-C-T c.1288C>T p.P430S Missense 2/12 - 1
10-70333384-C-A c.1289C>A p.P430H Missense 2/12 - 2
10-70333388-C-A c.1293C>A p.V431= Synonymous 2/12 - 1
10-70333388-C-G c.1293C>G p.V431= Synonymous 2/12 - 1
10-70333388-C-T c.1293C>T p.V431= Synonymous 2/12 - 2
10-70333389-T-G c.1294T>G p.F432V Missense 2/12 - 3
10-70333391-C-T c.1296C>T p.F432= Synonymous 2/12 - 1
10-70333392-C-A c.1297C>A p.L433I Missense 2/12 - 1
10-70333398-G-A c.1303G>A p.V435I Missense 2/12 - 3
10-70333398-G-T c.1303G>T p.V435F Missense 2/12 - 1
10-70333399-T-C c.1304T>C p.V435A Missense 2/12 - 1
10-70333400-T-A c.1305T>A p.V435= Synonymous 2/12 - 1
10-70333400-T-C c.1305T>C p.V435= Synonymous 2/12 - 1
10-70333400-T-G c.1305T>G p.V435= Synonymous 2/12 - 1
10-70333401-C-T c.1306C>T p.P436S Missense 2/12 - 1
10-70333402-C-A c.1307C>A p.P436H Missense 2/12 - 4
10-70333402-C-T c.1307C>T p.P436L Missense 2/12 - 1
10-70333405-C-T c.1310C>T p.P437L Missense 2/12 - 4
10-70333410-C-A c.1315C>A p.P439T Missense 2/12 - 1
10-70333411-C-A c.1316C>A p.P439Q Missense 2/12 - 1
10-70333412-A-C c.1317A>C p.P439= Synonymous 2/12 - 1
10-70333412-A-G c.1317A>G p.P439= Synonymous 2/12 - 2
10-70333412-A-T c.1317A>T p.P439= Synonymous 2/12 - 1
10-70333413-A-G c.1318A>G p.I440V Missense 2/12 - 1
10-70333419-A-G c.1324A>G p.T442A Missense 2/12 - 1
10-70333428-G-T c.1333G>T p.A445S Missense 2/12 - 1
10-70333429-C-G c.1334C>G p.A445G Missense 2/12 - 1
10-70333429-C-T c.1334C>T p.A445V Missense 2/12 - 1
10-70333431-C-T c.1336C>T p.P446S Missense 2/12 - 3
10-70333435-CC-AA c.1340_1341delinsAA p.S447* Nonsense 2/12 - 1
10-70333443-C-G c.1348C>G p.P450A Missense 2/12 - 3
10-70333443-C-T c.1348C>T p.P450S Missense 2/12 - 5
10-70333447-A-G c.1352A>G p.E451G Missense 2/12 - 1
10-70333448-G-A c.1353G>A p.E451= Synonymous 2/12 - 1
10-70333450-C-A c.1355C>A p.P452H Missense 2/12 - 1
10-70333450-C-T c.1355C>T p.P452L Missense 2/12 - 1
10-70333451-C-A c.1356C>A p.P452= Synonymous 2/12 - 1
10-70333451-C-G c.1356C>G p.P452= Synonymous 2/12 - 1
10-70333451-C-T c.1356C>T p.P452= Synonymous 2/12 - 1
10-70333452-C-A c.1357C>A p.Q453K Missense 2/12 - 3
10-70333456-G-A c.1361G>A p.S454N Missense 2/12 - 1
10-70333456-G-T c.1361G>T p.S454I Missense 2/12 - 2
10-70333458-A-T c.1363A>T p.T455S Missense 2/12 - 1
10-70333459-C-G c.1364C>G p.T455S Missense 2/12 - 1
10-70333459-C-T c.1364C>T p.T455I Missense 2/12 - 5
10-70333459-CT-TG c.1364_1365delinsTG p.T455M Missense 2/12 - 1
10-70333461-GTC-ATG c.1366_1368delinsATG p.V456M Missense 2/12 - 1
10-70333464-T-C c.1369T>C p.S457P Missense 2/12 - 1
10-70333465-C-A c.1370C>A p.S457* Nonsense 2/12 - 1
10-70333465-C-G c.1370C>G p.S457* Nonsense 2/12 - 1
10-70333465-C-T c.1370C>T p.S457L Missense 2/12 - 1
10-70333466-A-T c.1371A>T p.S457= Synonymous 2/12 - 1
10-70333470-GG-AA c.1375_1376delinsAA p.G459K Missense 2/12 - 1
10-70333471-G-A c.1376G>A p.G459E Missense 2/12 - 2
10-70333474-T-C c.1379T>C p.L460P Missense 2/12 - 1
10-70333473-CT-C c.1380del p.A461Qfs*31 Frameshift 2/12 - 1
10-70333477-C-T c.1382C>T p.A461V Missense 2/12 - 3
10-70333477-C-CA c.1383dup p.V462Sfs*39 Frameshift 2/12 - 1
10-70333486-GT-AG c.1391_1392delinsAG p.G464E Missense 2/12 - 1
10-70333488-G-A c.1393G>A p.A465T Missense 2/12 - 1
10-70333488-G-C c.1393G>C p.A465P Missense 2/12 - 2
10-70333489-C-A c.1394C>A p.A465D Missense 2/12 - 1
10-70333492-T-C c.1397T>C p.I466T Missense 2/12 - 1
10-70333495-A-C c.1400A>C p.Q467P Missense 2/12 - 3
10-70333499-T-G c.1404T>G p.I468M Missense 2/12 - 1
10-70333502-G-T c.1407G>T p.L469F Missense 2/12 - 1
10-70333505-T-A c.1410T>A p.P470= Synonymous 2/12 - 1
10-70333505-T-C c.1410T>C p.P470= Synonymous 2/12 - 1
10-70333505-T-G c.1410T>G p.P470= Synonymous 2/12 - 1
10-70333510-G-A c.1415G>A p.G472D Missense 2/12 - 1
10-70333513-CA-TT c.1418_1419delinsTT p.S473F Missense 2/12 - 1
10-70333516-G-A c.1421G>A p.G474E Missense 2/12 - 3
10-70333520-C-A c.1425C>A p.H475Q Missense 2/12 - 1
10-70333521-A-G c.1426A>G p.T476A Missense 2/12 - 1
10-70333521-A-T c.1426A>T p.T476S Missense 2/12 - 2
10-70333522-C-A c.1427C>A p.T476N Missense 2/12 - 1
10-70333522-C-G c.1427C>G p.T476S Missense 2/12 - 2
10-70333527-C-G c.1432C>G p.Q478E Missense 2/12 - 1
10-70333527-C-T c.1432C>T p.Q478* Nonsense 2/12 - 1
10-70333528-A-G c.1433A>G p.Q478R Missense 2/12 - 1
10-70333536-T-C c.1441T>C p.S481P Missense 2/12 - 4
10-70333538-A-C c.1443A>C p.S481= Synonymous 2/12 - 1
10-70333538-A-G c.1443A>G p.S481= Synonymous 2/12 - 1
10-70333538-A-T c.1443A>T p.S481= Synonymous 2/12 - 1
10-70333541-C-T c.1446C>T p.N482= Synonymous 2/12 - 2
10-70333544-A-C c.1449A>C p.S483= Synonymous 2/12 - 1
10-70333544-A-G c.1449A>G p.S483= Synonymous 2/12 - 1
10-70333544-A-T c.1449A>T p.S483= Synonymous 2/12 - 1
10-70333545-G-A c.1450G>A p.E484K Missense 2/12 - 2
10-70333545-G-C c.1450G>C p.E484Q Missense 2/12 - 1
10-70333547-G-C c.1452G>C p.E484D Missense 2/12 - 3
10-70333547-G-T c.1452G>T p.E484D Missense 2/12 - 4
10-70333550-A-G c.1455A>G p.K485= Synonymous 2/12 - 1
10-70333555-C-T c.1460C>T p.S487L Missense 2/12 - 11
10-70333560-C-T c.1465C>T p.P489S Missense 2/12 - 1
10-70333561-C-A c.1466C>A p.P489H Missense 2/12 - 3
10-70333563-C-A c.1468C>A p.P490T Missense 2/12 - 3
10-70333564-CA-AT c.1469_1470delinsAT p.P490H Missense 2/12 - 1
10-70333566-G-C c.1471G>C p.V491L Missense 2/12 - 1
10-70333566-G-T c.1471G>T p.V491L Missense 2/12 - 1
10-70333567-T-C c.1472T>C p.V491A Missense 2/12 - 1
10-70333576-T-C c.1481T>C p.I494T Missense 2/12 - 1
10-70333576-TA-T c.1483del p.S495Afs*3 Frameshift 2/12 - 1
10-70333578-A-C c.1483A>C p.S495R Missense 2/12 - 1
10-70333582-A-C c.1487A>C p.N496T Missense 2/12 - 1
10-70333589-A-C c.1494A>C p.E498D Missense 2/12 - 4
10-70333589-A-T c.1494A>T p.E498D Missense 2/12 - 4
10-70333593-G-A c.1498G>A p.E500K Missense 2/12 - 3
10-70333599-C-A c.1504C>A p.Q502K Missense 2/12 - 1
10-70333601-G-A c.1506G>A p.Q502= Synonymous 2/12 - 1
10-70333602-G-C c.1507G>C p.V503L Missense 2/12 - 1
10-70333605-C-T c.1510C>T p.H504Y Missense 2/12 - 4
10-70333611-A-C c.1516A>C p.S506R Missense 2/12 - 3
10-70333613-C-A c.1518C>A p.S506R Missense 2/12 - 2
10-70333613-C-G c.1518C>G p.S506R Missense 2/12 - 2
10-70333620-C-A c.1525C>A p.P509T Missense 2/12 - 1
10-70333620-CC-TA c.1525_1526delinsTA p.P509* Missense 2/12 - 1
10-70333620-C-T c.1525C>T p.P509S Missense 2/12 - 2
10-70333621-C-T c.1526C>T p.P509L Missense 2/12 - 3
10-70333629-A-G c.1534A>G p.T512A Missense 2/12 - 2
10-70333638-GTTC-G c.1543_1545del p.F515del InFrameDeletion 2/12 - 1
10-70333640-C-A c.1545C>A p.F515L Missense 2/12 - 1
10-70333640-C-T c.1545C>T p.F515= Synonymous 2/12 - 1
10-70333642-C-T c.1547C>T p.P516L Missense 2/12 - 2
10-70333644-T-A c.1549T>A p.L517I Missense 2/12 - 1
10-70333645-T-TGGG c.1550_1551insGGG p.L517_A518insG InFrameInsertion 2/12 - 1
10-70333646-A-C c.1551A>C p.L517F Missense 2/12 - 3
10-70333646-A-T c.1551A>T p.L517F Missense 2/12 - 2
10-70333647-G-A c.1552G>A p.A518T Missense 2/12 - 2
10-70333648-C-T c.1553C>T p.A518V Missense 2/12 - 1
10-70333650-C-T c.1555C>T p.P519S Missense 2/12 - 6
10-70333653-G-C c.1558G>C p.E520Q Missense 2/12 - 1
10-70333655-G-A c.1560G>A p.E520= Synonymous 2/12 - 1
10-70333668-C-T c.1573C>T p.H525Y Missense 2/12 - 2
10-70333670-T-A c.1575T>A p.H525Q Missense 2/12 - 1
10-70333670-T-G c.1575T>G p.H525Q Missense 2/12 - 1
10-70333675-C-T c.1580C>T p.S527L Missense 2/12 - 7
10-70333680-G-T c.1585G>T p.G529C Missense 2/12 - 1
10-70333683-A-G c.1588A>G p.I530V Missense 2/12 - 1
10-70333686-G-A c.1591G>A p.A531T Missense 2/12 - 1
10-70333688-C-A c.1593C>A p.A531= Synonymous 2/12 - 1
10-70333694-C-A c.1599C>A p.L533= Synonymous 2/12 - 1
10-70333694-C-G c.1599C>G p.L533= Synonymous 2/12 - 1
10-70333694-C-T c.1599C>T p.L533= Synonymous 2/12 - 1
10-70333695-TC-CT c.1600_1601delinsCT p.S534L Missense 2/12 - 1
10-70333696-C-T c.1601C>T p.S534F Missense 2/12 - 1
10-70333697-T-A c.1602T>A p.S534= Synonymous 2/12 - 1
10-70333697-T-C c.1602T>C p.S534= Synonymous 2/12 - 1
10-70333697-T-G c.1602T>G p.S534= Synonymous 2/12 - 1
10-70333698-C-G c.1603C>G p.Q535E Missense 2/12 - 1
10-70333700-G-A c.1605G>A p.Q535= Synonymous 2/12 - 1
10-70333702-C-A c.1607C>A p.A536D Missense 2/12 - 3
10-70333705-G-T c.1610G>T p.G537V Missense 2/12 - 1
10-70333707-C-T c.1612C>T p.P538S Missense 2/12 - 1
10-70333712-C-G c.1617C>G p.S539R Missense 2/12 - 1
10-70333713-A-G c.1618A>G p.K540E Missense 2/12 - 2
10-70333714-A-C c.1619A>C p.K540T Missense 2/12 - 1
10-70333716-T-G c.1621T>G p.S541A Missense 2/12 - 1
10-70333719-G-A c.1624G>A p.D542N Missense 2/12 - 1
10-70333721-C-A c.1626C>A p.D542E Missense 2/12 - 1
10-70333721-C-G c.1626C>G p.D542E Missense 2/12 - 1
10-70333724-A-C c.1629A>C p.R543S Missense 2/12 - 1
10-70333724-A-T c.1629A>T p.R543S Missense 2/12 - 1
10-70333725-G-A c.1630G>A p.G544R Missense 2/12 - 1
10-70333725-G-C c.1630G>C p.G544R Missense 2/12 - 1
10-70333725-G-T c.1630G>T p.G544W Missense 2/12 - 2
10-70333726-G-T c.1631G>T p.G544V Missense 2/12 - 2
10-70333728-GA-G c.1633del p.S545Afs*6 Frameshift 2/12 - 1
10-70333729-G-A c.1634G>A p.S545N Missense 2/12 - 1
10-70333729-G-T c.1634G>T p.S545I Missense 2/12 - 1
10-70333730-C-A c.1635C>A p.S545R Missense 2/12 - 1
10-70333731-T-C c.1636T>C p.S546P Missense 2/12 - 1
10-70333731-T-G c.1636T>G p.S546A Missense 2/12 - 1
10-70333732-C-T c.1637C>T p.S546F Missense 2/12 - 5
10-70333733-C-A c.1638C>A p.S546= Synonymous 2/12 - 1
10-70333733-C-G c.1638C>G p.S546= Synonymous 2/12 - 1
10-70333733-C-T c.1638C>T p.S546= Synonymous 2/12 - 1
10-70333734-C-A c.1639C>A p.Q547K Missense 2/12 - 3
10-70333736-G-C c.1641G>C p.Q547H Missense 2/12 - 1
10-70333736-G-T c.1641G>T p.Q547H Missense 2/12 - 1
10-70333740-AG-CT c.1645_1646inv p.S549L Missense 2/12 - 1
10-70333740-AGTGTAACCAGCACAGTTCAT-A c.1648_1667del p.V550Cfs*39 Frameshift 2/12 - 1
10-70333749-A-G c.1654A>G p.S552G Missense 2/12 - 1
10-70333753-C-T c.1658C>T p.T553I Missense 2/12 - 1
10-70333758-C-T c.1663C>T p.H555Y Missense 2/12 - 1
10-70333759-A-G c.1664A>G p.H555R Missense 2/12 - 1
10-70333761-G-A c.1666G>A p.V556I Missense 2/12 - 4
10-70333764-G-GGA c.1669_1670insGA p.V557Gfs*7 Frameshift 2/12 - 1
10-70333766-C-A c.1671C>A p.V557= Synonymous 2/12 - 1
10-70333766-C-G c.1671C>G p.V557= Synonymous 2/12 - 1
10-70333766-C-T c.1671C>T p.V557= Synonymous 2/12 - 1
10-70333767-A-G c.1672A>G p.N558D Missense 2/12 - 1
10-70333768-A-C c.1673A>C p.N558T Missense 2/12 - 1
10-70333770-A-G c.1675A>G p.T559A Missense 2/12 - 2
10-70333771-C-T c.1676C>T p.T559I Missense 2/12 - 1
10-70333772-C-A c.1677C>A p.T559= Synonymous 2/12 - 1
10-70333772-C-G c.1677C>G p.T559= Synonymous 2/12 - 1
10-70333772-C-T c.1677C>T p.T559= Synonymous 2/12 - 1
10-70333773-A-G c.1678A>G p.T560A Missense 2/12 - 4
10-70333774-C-T c.1679C>T p.T560I Missense 2/12 - 1
10-70333781-G-A c.1686G>A p.V562= Synonymous 2/12 - 1
10-70333781-G-C c.1686G>C p.V562= Synonymous 2/12 - 1
10-70333781-G-T c.1686G>T p.V562= Synonymous 2/12 - 1
10-70333787-G-A c.1692G>A p.M564I Missense 2/12 - 1
10-70333787-G-C c.1692G>C p.M564I Missense 2/12 - 1
10-70333787-G-T c.1692G>T p.M564I Missense 2/12 - 1
10-70333788-C-T c.1693C>T p.P565S Missense 2/12 - 1
10-70333792-T-G c.1697T>G p.V566G Missense 2/12 - 1
10-70333796-A-G c.1701A>G p.P567= Synonymous 2/12 - 2
10-70333796-CAAT-C c.1701_1703del p.M568del InFrameDeletion 2/12 - 1
10-70333804-G-A c.1709G>A p.S570N Missense 2/12 - 2
10-70333804-G-T c.1709G>T p.S570I Missense 2/12 - 1
10-70333805-T-C c.1710T>C p.S570= Synonymous 2/12 - 1
10-70333806-A-G c.1711A>G p.T571A Missense 2/12 - 1
10-70333807-C-A c.1712C>A p.T571N Missense 2/12 - 1
10-70333816-C-A c.1721C>A p.S574Y Missense 2/12 - 1
10-70333820-C-A c.1725C>A p.S575= Synonymous 2/12 - 2
10-70333820-C-G c.1725C>G p.S575= Synonymous 2/12 - 2
10-70333820-C-T c.1725C>T p.S575= Synonymous 2/12 - 2
10-70333825-C-T c.1730C>T p.T577I Missense 2/12 - 1
10-70333833-C-A c.1738C>A p.L580I Missense 2/12 - 1
10-70333837-C-T c.1742C>T p.P581L Missense 2/12 - 5
10-70333838-G-A c.1743G>A p.P581= Synonymous 2/12 - 1
10-70333838-G-C c.1743G>C p.P581= Synonymous 2/12 - 1
10-70333838-G-T c.1743G>T p.P581= Synonymous 2/12 - 1
10-70333844-G-C c.1749G>C p.L583F Missense 2/12 - 1
10-70333844-G-T c.1749G>T p.L583F Missense 2/12 - 1
10-70333845-G-C c.1750G>C p.E584Q Missense 2/12 - 1
10-70333848-A-G c.1753A>G p.K585E Missense 2/12 - 1
10-70333850-G-C c.1755G>C p.K585N Missense 2/12 - 1
10-70333850-G-T c.1755G>T p.K585N Missense 2/12 - 2
10-70333851-A-G c.1756A>G p.K586E Missense 2/12 - 1
10-70333851-A-T c.1756A>T p.K586* Nonsense 2/12 - 1
10-70333858-G-T c.1763G>T p.R588I Missense 2/12 - 1
10-70333859-A-G c.1764A>G p.R588= Synonymous 2/12 - 1
10-70333863-C-T c.1768C>T p.R590* Nonsense 2/12 - 6
10-70333864-G-A c.1769G>A p.R590Q Missense 2/12 - 1
10-70333868-T-A c.1773T>A p.C591* Nonsense 2/12 - 1
10-70333869-GGG-TGT c.1774_1776delinsTGT p.G592C Missense 2/12 - 1
10-70333869-G-T c.1774G>T p.G592W Missense 2/12 - 2
10-70333870-G-T c.1775G>T p.G592V Missense 2/12 - 2
10-70333872-G-A c.1777G>A p.V593I Missense 2/12 - 1
10-70333874-C-T c.1779C>T p.V593= Synonymous 2/12 - 1
10-70333875-TG-AC c.1780_1781delinsAC p.C594T Missense 2/12 - 1
10-70333875-TG-GC c.1780_1781delinsGC p.C594A Missense 2/12 - 1
10-70333876-G-A c.1781G>A p.C594Y Missense 2/12 - 3
10-70333881-C-T c.1786C>T p.P596S Missense 2/12 - 2
10-70333882-C-A c.1787C>A p.P596H Missense 2/12 - 1
10-70333886-C-T c.1791C>T p.C597= Synonymous 2/12 - 1
10-70333887-C-A c.1792C>A p.Q598K Missense 2/12 - 3
10-70333894-A-G c.1799A>G p.K600R Missense 2/12 - 1
10-70333897-C-T c.1802C>T p.T601I Missense 2/12 - 1
10-70333898-C-A c.1803C>A p.T601= Synonymous 2/12 - 1
10-70333898-C-G c.1803C>G p.T601= Synonymous 2/12 - 1
10-70333898-C-T c.1803C>T p.T601= Synonymous 2/12 - 1
10-70333901-C-T c.1806C>T p.N602= Synonymous 2/12 - 1
10-70333906-G-T c.1811G>T p.G604V Missense 2/12 - 1
10-70333913-C-T c.1818C>T p.C606= Synonymous 2/12 - 1
10-70333914-A-G c.1819A>G p.T607A Missense 2/12 - 2
10-70333914-A-T c.1819A>T p.T607S Missense 2/12 - 1
10-70333915-C-G c.1820C>G p.T607S Missense 2/12 - 1
10-70333921-G-T c.1826G>T p.C609F Missense 2/12 - 1
10-70333923-A-G c.1828A>G p.K610E Missense 2/12 - 2
10-70333925-G-GA c.1832dup p.N611Kfs*10 Frameshift 2/12 - 1
10-70333929-AG-CA c.1834_1835delinsCA p.R612Q Missense 2/12 - 1
10-70333930-G-T c.1835G>T p.R612I Missense 2/12 - 2
10-70333932-A-G c.1837A>G p.K613E Missense 2/12 - 1
10-70333933-A-T c.1838A>T p.K613M Missense 2/12 - 1
10-70333934-G-A c.1839G>A p.K613= Synonymous 2/12 - 1
10-70333934-G-C c.1839G>C p.K613N Missense 2/12 - 2
10-70333934-G-T c.1839G>T p.K613N Missense 2/12 - 3
10-70333939-G-A c.1844G>A p.S615N Missense 2/12 - 2
10-70333938-A-C c.1843A>C p.S615R Missense 2/12 - 1
10-70333940-C-A c.1845C>A p.S615R Missense 2/12 - 1
10-70333940-C-G c.1845C>G p.S615R Missense 2/12 - 1
10-70333941-C-T c.1846C>T p.H616Y Missense 2/12 - 1
10-70333944-C-T c.1849C>T p.Q617* Nonsense 2/12 - 1
10-70333945-A-T c.1850A>T p.Q617L Missense 2/12 - 1
10-70333948-T-A c.1853T>A p.I618N Missense 2/12 - 1
10-70333949-C-A c.1854C>A p.I618= Synonymous 2/12 - 2
10-70333949-C-T c.1854C>T p.I618= Synonymous 2/12 - 1
10-70333954-A-C c.1859A>C p.K620T Missense 2/12 - 3
10-70333955-G-A c.1860G>A p.K620= Synonymous 2/12 - 1
10-70333957-A-C c.1862A>C p.K621T Missense 2/12 - 1
10-70333957-A-G c.1862A>G p.K621R Missense 2/12 - 1
10-70333959-AG-CA c.1864_1865delinsCA p.R622Q Missense 2/12 - 2
10-70333959-A-T c.1864A>T p.R622* Nonsense 2/12 - 1
10-70333960-G-A c.1865G>A p.R622K Missense 2/12 - 1
10-70333960-G-T c.1865G>T p.R622I Missense 2/12 - 1
10-70333968-G-T c.1873G>T p.E625* Nonsense 2/12 - 1
10-70333971-G-A c.1876G>A p.E626K Missense 2/12 - 1
10-70333972-A-C c.1877A>C p.E626A Missense 2/12 - 1
10-70333973-G-C c.1878G>C p.E626D Missense 2/12 - 1
10-70333973-G-T c.1878G>T p.E626D Missense 2/12 - 1
10-70333974-C-G c.1879C>G p.L627V Missense 2/12 - 1
10-70333976-G-A c.1881G>A p.L627= Synonymous 2/12 - 1
10-70333978-A-G c.1883A>G p.K628R Missense 2/12 - 3
10-70333982-G-C c.1887G>C p.K629N Missense 2/12 - 1
10-70333982-G-T c.1887G>T p.K629N Missense 2/12 - 1
10-70333985-A-C c.1890A>C p.K630N Missense 2/12 - 1
10-70333985-A-G c.1890A>G p.K630= Synonymous 2/12 - 1
10-70333985-A-T c.1890A>T p.K630N Missense 2/12 - 1
10-70333986-C-A c.1891C>A p.P631T Missense 2/12 - 1
10-70333986-C-T c.1891C>T p.P631S Missense 2/12 - 2
10-70333989-T-G c.1894T>G p.S632A Missense 2/12 - 1
10-70333992-GTT-ATG c.1897_1899delinsATG p.V633M Missense 2/12 - 1
10-70333990-CTGT-C c.1902_1904del p.V635del InFrameDeletion 2/12 - 1
10-70333998-TGTG-T c.1903_1905del p.V635del InFrameDeletion 2/12 - 2
10-70333999-T-A c.1904T>A p.V635E Missense 2/12 - 1
10-70334002-C-T c.1907C>T p.P636L Missense 2/12 - 1
10-70334009-G-T c.1914G>T p.E638D Missense 2/12 - 1
10-70334010-G-A c.1914+1G>A - IntronicSNV - 2/11 1
10-70334026-G-T c.1914+17G>T - IntronicSNV - 2/11 1
10-70337053-A-C c.1914+3044A>C - IntronicSNV - 2/11 1
10-70337053-A-G c.1914+3044A>G - IntronicSNV - 2/11 1
10-70343285-T-A c.1914+9276T>A - IntronicSNV - 2/11 1
10-70343285-T-C c.1914+9276T>C - IntronicSNV - 2/11 1
10-70343842-G-T c.1914+9833G>T - IntronicSNV - 2/11 1
10-70346740-T-C c.1914+12731T>C - IntronicSNV - 2/11 1
10-70355722-C-T c.1915-5016C>T - IntronicSNV - 2/11 1
10-70360745-A-G c.1922A>G p.K641R Missense 3/12 - 1
10-70360747-G-C c.1924G>C p.E642Q Missense 3/12 - 1
10-70360748-A-T c.1925A>T p.E642V Missense 3/12 - 1
10-70360756-AG-CA c.1933_1934delinsCA p.R645Q Missense 3/12 - 1
10-70360756-A-C c.1933A>C p.R645= Synonymous 3/12 - 2
10-70360758-G-A c.1935G>A p.R645= Synonymous 3/12 - 2
10-70360764-G-A c.1941G>A p.Q647= Synonymous 3/12 - 1
10-70360764-G-C c.1941G>C p.Q647H Missense 3/12 - 2
10-70360764-G-T c.1941G>T p.Q647H Missense 3/12 - 2
10-70360766-G-C c.1943G>C p.R648T Missense 3/12 - 1
10-70360766-G-T c.1943G>T p.R648M Missense 3/12 - 1
10-70360768-G-A c.1945G>A p.E649K Missense 3/12 - 1
10-70360772-A-C c.1949A>C p.K650T Missense 3/12 - 1
10-70360773-G-C c.1950G>C p.K650N Missense 3/12 - 4
10-70360773-G-T c.1950G>T p.K650N Missense 3/12 - 3
10-70360776-G-A c.1953G>A p.K651= Synonymous 3/12 - 1
10-70360776-G-C c.1953G>C p.K651N Missense 3/12 - 5
10-70360776-G-T c.1953G>T p.K651N Missense 3/12 - 8
10-70360780-A-G c.1957A>G p.K653E Missense 3/12 - 1
10-70360781-A-C c.1958A>C p.K653T Missense 3/12 - 1
10-70360802-G-C c.1968+11G>C - IntronicSNV - 3/11 1
10-70367123-G-A c.1968+6332G>A - IntronicSNV - 3/11 1
10-70367123-G-T c.1968+6332G>T - IntronicSNV - 3/11 1
10-70369041-C-T c.1968+8250C>T - IntronicSNV - 3/11 1
10-70371850-CT-C c.1968+11071del - IntronicDeletion - 3/11 1
10-70372736-C-T c.1968+11945C>T - IntronicSNV - 3/11 1
10-70373695-CA-C c.1968+12921del - IntronicDeletion - 3/11 1
10-70377991-T-C c.1968+17200T>C - IntronicSNV - 3/11 1
10-70378948-A-T c.1968+18157A>T - IntronicSNV - 3/11 1
10-70378949-G-A c.1968+18158G>A - IntronicSNV - 3/11 1
10-70385230-G-A c.1969-19225G>A - IntronicSNV - 3/11 1
10-70392105-G-T c.1969-12350G>T - IntronicSNV - 3/11 1
10-70392137-A-C c.1969-12318A>C - IntronicSNV - 3/11 1
10-70392137-A-G c.1969-12318A>G - IntronicSNV - 3/11 1
10-70392319-G-A c.1969-12136G>A - IntronicSNV - 3/11 3
10-70392375-G-A c.1969-12080G>A - IntronicSNV - 3/11 5
10-70392470-G-A c.1969-11985G>A - IntronicSNV - 3/11 2
10-70392610-G-A c.1969-11845G>A - IntronicSNV - 3/11 1
10-70399964-G-A c.1969-4491G>A - IntronicSNV - 3/11 1
10-70401468-C-T c.1969-2987C>T - IntronicSNV - 3/11 1
10-70401494-G-A c.1969-2961G>A - IntronicSNV - 3/11 1
10-70401976-C-T c.1969-2479C>T - IntronicSNV - 3/11 1
10-70404379-T-C c.1969-76T>C - IntronicSNV - 3/11 1
10-70404455-G-A c.1969G>A p.A657T Missense 4/12 - 1
10-70404458-G-C c.1972G>C p.D658H Missense 4/12 - 2
10-70404462-T-G c.1976T>G p.F659C Missense 4/12 - 1
10-70404464-G-A c.1978G>A p.D660N Missense 4/12 - 1
10-70404465-A-G c.1979A>G p.D660G Missense 4/12 - 2
10-70404467-A-C c.1981A>C p.N661H Missense 4/12 - 4
10-70404473-C-A c.1987C>A p.P663T Missense 4/12 - 1
10-70404474-C-T c.1988C>T p.P663L Missense 4/12 - 1
10-70404477-T-G c.1991T>G p.V664G Missense 4/12 - 1
10-70404482-G-T c.1996G>T p.G666C Missense 4/12 - 1
10-70404483-G-C c.1997G>C p.G666A Missense 4/12 - 1
10-70404483-GC-AG c.1997_1998delinsAG p.G666E Missense 4/12 - 1
10-70404486-C-T c.2000C>T p.P667L Missense 4/12 - 1
10-70404489-A-C c.2003A>C p.K668T Missense 4/12 - 3
10-70404494-G-C c.2008G>C p.E670Q Missense 4/12 - 2
10-70404495-A-G c.2009A>G p.E670G Missense 4/12 - 2
10-70404504-A-T c.2018A>T p.D673V Missense 4/12 - 3
10-70404509-A-G c.2023A>G p.S675G Missense 4/12 - 2
10-70404512-AGA-TGG c.2026_2028delinsTGG p.R676W Missense 4/12 - 1
10-70404515-T-A c.2029T>A p.C677S Missense 4/12 - 3
10-70404515-T-G c.2029T>G p.C677G Missense 4/12 - 1
10-70404515-TG-AC c.2029_2030delinsAC p.C677T Missense 4/12 - 19
10-70404518-G-T c.2032G>T p.G678C Missense 4/12 - 1
10-70404519-G-T c.2033G>T p.G678V Missense 4/12 - 1
10-70404521-C-T c.2035C>T p.H679Y Missense 4/12 - 1
10-70404522-A-C c.2036A>C p.H679P Missense 4/12 - 1
10-70404523-T-A c.2037T>A p.H679Q Missense 4/12 - 2
10-70404523-T-C c.2037T>C p.H679= Synonymous 4/12 - 1
10-70404523-T-G c.2037T>G p.H679Q Missense 4/12 - 1
10-70404526-G-A c.2040G>A p.G680= Synonymous 4/12 - 1
10-70404529-A-T c.2043A>T p.E681D Missense 4/12 - 1
10-70404533-C-G c.2047C>G p.Q683E Missense 4/12 - 7
10-70404534-A-C c.2048A>C p.Q683P Missense 4/12 - 1
10-70404537-A-C c.2051A>C p.K684T Missense 4/12 - 1
10-70404538-A-AATCGGTAGGGCACATGTATAAACACCTGTAACATGGCATAACCTTGTATGTAGGCTTCTTCTTGAGAAGAAGAAG c.2052_2053insATCGGTAGGGCACATGTATAAACACCTGTAACATGGCATAACCTTGTATGTAGGCTTCTTCTTGAGAAGAAGAAG p.K684_L685insIGRAHV* InFrameInsertion 4/12 - 1
10-70404538-A-C c.2052A>C p.K684N Missense 4/12 - 1
10-70404540-T-A c.2054T>A p.L685* Nonsense 4/12 - 1
10-70404542-G-A c.2056G>A p.E686K Missense 4/12 - 2
10-70404548-A-T c.2062A>T p.N688Y Missense 4/12 - 1
10-70404549-A-C c.2063A>C p.N688T Missense 4/12 - 1
10-70404551-C-T c.2065C>T p.P689S Missense 4/12 - 4
10-70404558-C-T c.2072C>T p.T691I Missense 4/12 - 3
10-70404563-G-C c.2077G>C p.E693Q Missense 4/12 - 1
10-70404564-A-G c.2078A>G p.E693G Missense 4/12 - 1
10-70404575-A-G c.2089A>G p.K697E Missense 4/12 - 1
10-70404574-TA-T c.2093del p.N698Mfs*5 Frameshift 4/12 - 2
10-70404581-G-A c.2095G>A p.E699K Missense 4/12 - 1
10-70404581-GA-AT c.2095_2096delinsAT p.E699I Missense 4/12 - 1
10-70404586-C-A c.2100C>A p.D700E Missense 4/12 - 1
10-70404586-C-G c.2100C>G p.D700E Missense 4/12 - 1
10-70404588-G-A c.2102G>A p.S701N Missense 4/12 - 10
10-70404592-G-T c.2106G>T p.M702I Missense 4/12 - 1
10-70404595-A-C c.2109A>C p.T703= Synonymous 4/12 - 1
10-70404597-G-T c.2111G>T p.G704V Missense 4/12 - 1
10-70404602-G-A c.2116G>A p.E706K Missense 4/12 - 4
10-70404610-G-A c.2124G>A p.E708= Synonymous 4/12 - 1
10-70404611-AA-GC c.2125_2126delinsGC p.K709A Missense 4/12 - 1
10-70404612-AGT-A c.2128_2129del p.W710Dfs*10 Frameshift 4/12 - 1
10-70404615-G-T c.2129G>T p.W710L Missense 4/12 - 2
10-70404622-A-G c.2136A>G p.Q712= Synonymous 4/12 - 1
10-70404628-G-C c.2142G>C p.K714N Missense 4/12 - 2
10-70404628-G-T c.2142G>T p.K714N Missense 4/12 - 3
10-70404633-C-T c.2147C>T p.S716L Missense 4/12 - 2
10-70404644-G-C c.2158G>C p.D720H Missense 4/12 - 1
10-70404646-T-A c.2160T>A p.D720E Missense 4/12 - 1
10-70404646-T-G c.2160T>G p.D720E Missense 4/12 - 1
10-70404648-A-C c.2162A>C p.H721P Missense 4/12 - 1
10-70404649-C-A c.2163C>A p.H721Q Missense 4/12 - 1
10-70404649-C-G c.2163C>G p.H721Q Missense 4/12 - 1
10-70404650-G-A c.2164G>A p.V722M Missense 4/12 - 1
10-70404656-GGA-TGG c.2170_2172delinsTGG p.G724W Missense 4/12 - 1
10-70404656-G-T c.2170G>T p.G724* Nonsense 4/12 - 1
10-70404657-G-T c.2171G>T p.G724V Missense 4/12 - 1
10-70404658-A-C c.2172A>C p.G724= Synonymous 4/12 - 1
10-70404658-A-G c.2172A>G p.G724= Synonymous 4/12 - 1
10-70404658-A-T c.2172A>T p.G724= Synonymous 4/12 - 1
10-70404668-G-C c.2182G>C p.A728P Missense 4/12 - 1
10-70404674-G-A c.2188G>A p.V730I Missense 4/12 - 1
10-70404676-C-A c.2190C>A p.V730= Synonymous 4/12 - 1
10-70404676-C-G c.2190C>G p.V730= Synonymous 4/12 - 1
10-70404676-C-T c.2190C>T p.V730= Synonymous 4/12 - 1
10-70404678-C-A c.2192C>A p.P731Q Missense 4/12 - 1
10-70404680-G-A c.2194G>A p.E732K Missense 4/12 - 1
10-70404684-C-A c.2198C>A p.A733D Missense 4/12 - 1
10-70404685-T-A c.2199T>A p.A733= Synonymous 4/12 - 1
10-70404685-T-C c.2199T>C p.A733= Synonymous 4/12 - 1
10-70404685-T-G c.2199T>G p.A733= Synonymous 4/12 - 1
10-70404686-TG-T c.2200del p.E734Kfs*23 Frameshift 4/12 - 1
10-70404693-C-T c.2207C>T p.S736L Missense 4/12 - 3
10-70404702-C-G c.2216C>G p.S739C Missense 4/12 - 1
10-70404707-G-A c.2221G>A p.V741I Missense 4/12 - 2
10-70404710-G-C c.2224G>C p.D742H Missense 4/12 - 1
10-70404711-A-T c.2225A>T p.D742V Missense 4/12 - 1
10-70404719-C-T c.2233C>T p.R745* Nonsense 4/12 - 4
10-70404720-G-A c.2234G>A p.R745Q Missense 4/12 - 6
10-70404729-C-A c.2243C>A p.S748Y Missense 4/12 - 1
10-70404729-C-G c.2243C>G p.S748C Missense 4/12 - 1
10-70404731-C-A c.2245C>A p.P749T Missense 4/12 - 1
10-70404737-T-C c.2251T>C p.L751= Synonymous 4/12 - 1
10-70404739-G-A c.2253G>A p.L751= Synonymous 4/12 - 1
10-70404741-T-G c.2255T>G p.F752C Missense 4/12 - 1
10-70404745-A-C c.2259A>C p.V753= Synonymous 4/12 - 2
10-70404745-A-G c.2259A>G p.V753= Synonymous 4/12 - 2
10-70404745-A-T c.2259A>T p.V753= Synonymous 4/12 - 2
10-70404748-A-C c.2262A>C p.Q754H Missense 4/12 - 1
10-70404748-A-T c.2262A>T p.Q754H Missense 4/12 - 1
10-70404749-A-G c.2263A>G p.T755A Missense 4/12 - 1
10-70404750-C-T c.2264C>T p.T755I Missense 4/12 - 2
10-70404751-C-A c.2265C>A p.T755= Synonymous 4/12 - 1
10-70404751-C-G c.2265C>G p.T755= Synonymous 4/12 - 1
10-70404751-C-T c.2265C>T p.T755= Synonymous 4/12 - 1
10-70404752-G-A c.2266G>A p.V756I Missense 4/12 - 3
10-70404752-G-C c.2266G>C p.V756L Missense 4/12 - 1
10-70404752-G-T c.2266G>T p.V756L Missense 4/12 - 1
10-70404755-A-AG c.2270dup p.N758Kfs*4 Frameshift 4/12 - 1
10-70404756-G-A c.2270G>A p.R757K Missense 4/12 - 1
10-70404761-G-A c.2275G>A p.G759S Missense 4/12 - 1
10-70404762-G-A c.2276G>A p.G759D Missense 4/12 - 3
10-70404765-T-C c.2279T>C p.I760T Missense 4/12 - 1
10-70404764-A-AT c.2280dup p.K761* Nonsense 4/12 - 2
10-70404768-A-C c.2282A>C p.K761T Missense 4/12 - 1
10-70404766-TA-T c.2283del p.K761Nfs*34 Frameshift 4/12 - 1
10-70404770-C-A c.2284C>A p.H762N Missense 4/12 - 1
10-70404776-C-G c.2290C>G p.H764D Missense 4/12 - 2
10-70404782-T-C c.2296T>C p.L766= Synonymous 4/12 - 1
10-70404784-A-G c.2298A>G p.L766= Synonymous 4/12 - 1
10-70404785-C-A c.2299C>A p.P767T Missense 4/12 - 1
10-70404785-C-G c.2299C>G p.P767A Missense 4/12 - 1
10-70404789-C-A c.2303C>A p.A768D Missense 4/12 - 1
10-70404789-C-G c.2303C>G p.A768G Missense 4/12 - 1
10-70404789-C-T c.2303C>T p.A768V Missense 4/12 - 1
10-70404791-G-A c.2305G>A p.E769K Missense 4/12 - 1
10-70404793-A-G c.2307A>G p.E769= Synonymous 4/12 - 1
10-70404801-T-C c.2315T>C p.V772A Missense 4/12 - 1
10-70404804-C-T c.2318C>T p.S773L Missense 4/12 - 1
10-70404805-A-G c.2319A>G p.S773= Synonymous 4/12 - 1
10-70404808-T-A c.2322T>A p.F774L Missense 4/12 - 1
10-70404809-A-G c.2323A>G p.K775E Missense 4/12 - 1
10-70404810-A-C c.2324A>C p.K775T Missense 4/12 - 1
10-70404808-TA-T c.2328del p.K776Nfs*19 Frameshift 4/12 - 5
10-70404814-A-G c.2328A>G p.K776= Synonymous 4/12 - 1
10-70404815-T-A c.2329T>A p.F777I Missense 4/12 - 1
10-70404823-T-C c.2337T>C p.I779= Synonymous 4/12 - 1
10-70404824-G-A c.2338G>A p.E780K Missense 4/12 - 1
10-70404827-G-A c.2341G>A p.E781K Missense 4/12 - 2
10-70404827-G-C c.2341G>C p.E781Q Missense 4/12 - 1
10-70404827-G-T c.2341G>T p.E781* Nonsense 4/12 - 1
10-70404832-C-T c.2346C>T p.F782= Synonymous 4/12 - 2
10-70404833-G-A c.2347G>A p.G783S Missense 4/12 - 2
10-70404834-G-T c.2348G>T p.G783V Missense 4/12 - 1
10-70404839-A-G c.2353A>G p.T785A Missense 4/12 - 3
10-70404839-A-T c.2353A>T p.T785S Missense 4/12 - 1
10-70404845-G-C c.2359G>C p.E787Q Missense 4/12 - 1
10-70404850-CA-C c.2366del p.N789Ifs*6 Frameshift 4/12 - 1
10-70404852-A-T c.2366A>T p.N789I Missense 4/12 - 5
10-70404854-TC-CT c.2368_2369delinsCT p.S790L Missense 4/12 - 1
10-70404855-C-T c.2369C>T p.S790F Missense 4/12 - 1
10-70404856-T-A c.2370T>A p.S790= Synonymous 4/12 - 1
10-70404856-T-C c.2370T>C p.S790= Synonymous 4/12 - 1
10-70404856-T-G c.2370T>G p.S790= Synonymous 4/12 - 1
10-70404860-A-G c.2374A>G p.K792E Missense 4/12 - 1
10-70404861-A-C c.2375A>C p.K792T Missense 4/12 - 1
10-70404865-C-T c.2379C>T p.F793= Synonymous 4/12 - 5
10-70404869-A-G c.2383A>G p.K795E Missense 4/12 - 4
10-70404876-C-T c.2390C>T p.T797I Missense 4/12 - 1
10-70404878-G-A c.2392G>A p.A798T Missense 4/12 - 1
10-70404886-T-C c.2400T>C p.H800= Synonymous 4/12 - 1
10-70404889-A-C c.2403A>C p.K801N Missense 4/12 - 2
10-70404889-A-T c.2403A>T p.K801N Missense 4/12 - 2
10-70404891-A-G c.2405A>G p.N802S Missense 4/12 - 3
10-70404893-G-A c.2407G>A p.A803T Missense 4/12 - 5
10-70404893-G-T c.2407G>T p.A803S Missense 4/12 - 1
10-70404894-C-A c.2408C>A p.A803D Missense 4/12 - 1
10-70404898-G-A c.2412G>A p.M804I Missense 4/12 - 1
10-70404898-G-C c.2412G>C p.M804I Missense 4/12 - 1
10-70404898-G-T c.2412G>T p.M804I Missense 4/12 - 1
10-70404899-A-T c.2413A>T p.S805C Missense 4/12 - 1
10-70404903-C-T c.2417C>T p.S806F Missense 4/12 - 4
10-70404908-G-T c.2422G>T p.A808S Missense 4/12 - 1
10-70404911-A-G c.2425A>G p.T809A Missense 4/12 - 1
10-70404912-C-T c.2426C>T p.T809I Missense 4/12 - 1
10-70404915-A-C c.2429A>C p.D810A Missense 4/12 - 1
10-70404917-A-C c.2431A>C p.M811L Missense 4/12 - 1
10-70404918-TGA-T c.2434_2435del p.S812Lfs*2 Frameshift 4/12 - 1
10-70404920-AG-TT c.2434_2435delinsTT p.S812F Missense 4/12 - 1
10-70404927-A-T c.2441A>T p.D814V Missense 4/12 - 4
10-70404929-C-T c.2443C>T p.H815Y Missense 4/12 - 1
10-70404930-A-G c.2444A>G p.H815R Missense 4/12 - 1
10-70404931-T-C c.2445T>C p.H815= Synonymous 4/12 - 5
10-70404934-C-A c.2448C>A p.L816= Synonymous 4/12 - 1
10-70404934-C-G c.2448C>G p.L816= Synonymous 4/12 - 2
10-70404934-C-T c.2448C>T p.L816= Synonymous 4/12 - 1
10-70404937-G-T c.2451G>T p.K817N Missense 4/12 - 1
10-70404939-G-T c.2453G>T p.G818V Missense 4/12 - 1
10-70404942-G-A c.2456G>A p.R819K Missense 4/12 - 1
10-70404942-G-T c.2456G>T p.R819I Missense 4/12 - 1
10-70404947-A-C c.2461A>C p.N821H Missense 4/12 - 1
10-70404949-C-A c.2463C>A p.N821K Missense 4/12 - 1
10-70404949-C-G c.2463C>G p.N821K Missense 4/12 - 1
10-70404950-G-A c.2464G>A p.V822I Missense 4/12 - 1
10-70404950-GT-G c.2468del p.L823* Frameshift 4/12 - 1
10-70404956-G-A c.2470G>A p.V824I Missense 4/12 - 1
10-70404956-G-C c.2470G>C p.V824L Missense 4/12 - 1
10-70404956-G-T c.2470G>T p.V824L Missense 4/12 - 1
10-70404961-C-T c.2475C>T p.F825= Synonymous 4/12 - 4
10-70404962-C-T c.2476C>T p.Q826* Nonsense 4/12 - 3
10-70404966-A-C c.2480A>C p.Q827P Missense 4/12 - 1
10-70404968-C-T c.2482C>T p.P828S Missense 4/12 - 3
10-70404979-C-A c.2493C>A p.N831K Missense 4/12 - 1
10-70404979-C-T c.2493C>T p.N831= Synonymous 4/12 - 2
10-70404980-TG-AC c.2494_2495delinsAC p.C832T Missense 4/12 - 1
10-70404981-G-A c.2495G>A p.C832Y Missense 4/12 - 6
10-70404983-A-C c.2497A>C p.S833R Missense 4/12 - 1
10-70404986-T-G c.2500T>G p.S834A Missense 4/12 - 5
10-70404988-C-T c.2502C>T p.S834= Synonymous 4/12 - 1
10-70404995-C-T c.2509C>T p.H837Y Missense 4/12 - 2
10-70404999-C-T c.2513C>T p.S838F Missense 4/12 - 1
10-70404996-ATTC-A c.2514_2516del p.S839del InFrameDeletion 4/12 - 1
10-70405001-TTCA-T c.2515_2517del p.S839del InFrameDeletion 4/12 - 1
10-70405002-C-T c.2516C>T p.S839L Missense 4/12 - 2
10-70405004-CA-GC c.2518_2519delinsGC p.H840A Missense 4/12 - 38
10-70405001-TCA-T c.2519_2520del p.H840Lfs*8 Frameshift 4/12 - 1
10-70405007-TC-AA c.2521_2522delinsAA p.S841N Missense 4/12 - 1
10-70405010-A-G c.2524A>G p.I842V Missense 4/12 - 7
10-70405012-C-G c.2526C>G p.I842M Missense 4/12 - 1
10-70405013-A-C c.2527A>C p.I843L Missense 4/12 - 1
10-70405013-A-T c.2527A>T p.I843L Missense 4/12 - 2
10-70405017-AAT-A c.2531_2532del p.N844Tfs*4 Frameshift 4/12 - 1
10-70405020-A-T c.2534A>T p.H845L Missense 4/12 - 3
10-70405025-G-A c.2539G>A p.A847T Missense 4/12 - 1
10-70405044-G-A c.2558G>A p.G853D Missense 4/12 - 1
10-70405044-G-C c.2558G>C p.G853A Missense 4/12 - 1
10-70405044-G-T c.2558G>T p.G853V Missense 4/12 - 1
10-70405049-C-T c.2563C>T p.Q855* Nonsense 4/12 - 1
10-70405052-C-T c.2566C>T p.P856S Missense 4/12 - 1
10-70405053-C-A c.2567C>A p.P856Q Missense 4/12 - 1
10-70405053-C-T c.2567C>T p.P856L Missense 4/12 - 1
10-70405055-A-G c.2569A>G p.K857E Missense 4/12 - 1
10-70405063-T-A c.2577T>A p.P859= Synonymous 4/12 - 1
10-70405063-T-C c.2577T>C p.P859= Synonymous 4/12 - 1
10-70405063-T-G c.2577T>G p.P859= Synonymous 4/12 - 1
10-70405065-A-G c.2579A>G p.E860G Missense 4/12 - 1
10-70405072-A-G c.2586A>G p.I862M Missense 4/12 - 2
10-70405073-C-T c.2587C>T p.P863S Missense 4/12 - 1
10-70405077-G-A c.2591G>A p.S864N Missense 4/12 - 2
10-70405080-A-C c.2594A>C p.K865T Missense 4/12 - 3
10-70405082-G-A c.2596G>A p.E866K Missense 4/12 - 1
10-70405084-A-C c.2598A>C p.E866D Missense 4/12 - 1
10-70405084-A-G c.2598A>G p.E866= Synonymous 4/12 - 1
10-70405085-C-T c.2599C>T p.P867S Missense 4/12 - 1
10-70405091-G-A c.2605G>A p.D869N Missense 4/12 - 1
10-70405091-G-T c.2605G>T p.D869Y Missense 4/12 - 1
10-70405094-GGA-AGC c.2608_2610delinsAGC p.G870S Missense 4/12 - 1
10-70405101-C-T c.2615C>T p.P872L Missense 4/12 - 4
10-70405102-C-T c.2616C>T p.P872= Synonymous 4/12 - 1
10-70405103-G-A c.2617G>A p.V873I Missense 4/12 - 7
10-70405103-G-T c.2617G>T p.V873F Missense 4/12 - 2
10-70405110-C-T c.2624C>T p.P875L Missense 4/12 - 1
10-70405113-G-A c.2627G>A p.S876N Missense 4/12 - 1
10-70405115-C-A c.2629C>A p.L877I Missense 4/12 - 3
10-70405122-C-T c.2636C>T p.S879L Missense 4/12 - 1
10-70405123-G-A c.2637G>A p.S879= Synonymous 4/12 - 2
10-70405123-G-C c.2637G>C p.S879= Synonymous 4/12 - 2
10-70405123-G-T c.2637G>T p.S879= Synonymous 4/12 - 1
10-70405126-A-T c.2640A>T p.L880F Missense 4/12 - 1
10-70405127-A-G c.2641A>G p.M881V Missense 4/12 - 4
10-70405133-G-A c.2647G>A p.D883N Missense 4/12 - 2
10-70405133-G-T c.2647G>T p.D883Y Missense 4/12 - 1
10-70405137-G-T c.2651G>T p.R884M Missense 4/12 - 1
10-70405139-AGA-TGT c.2653_2655delinsTGT p.R885C Missense 4/12 - 1
10-70405140-AG-A c.2654del p.R885Nfs*2 Frameshift 4/12 - 1
10-70405141-GA-G c.2655del p.R885Sfs*2 Frameshift 4/12 - 1
10-70405148-T-C c.2662T>C p.L888= Synonymous 4/12 - 4
10-70405156-A-C c.2670A>C p.Q890H Missense 4/12 - 2
10-70405156-A-G c.2670A>G p.Q890= Synonymous 4/12 - 1
10-70405157-G-C c.2671G>C p.V891L Missense 4/12 - 2
10-70405157-G-T c.2671G>T p.V891L Missense 4/12 - 2
10-70405160-G-C c.2674G>C p.V892L Missense 4/12 - 2
10-70405160-G-T c.2674G>T p.V892L Missense 4/12 - 2
10-70405161-T-C c.2675T>C p.V892A Missense 4/12 - 2
10-70405164-C-G c.2678C>G p.A893G Missense 4/12 - 1
10-70405164-C-T c.2678C>T p.A893V Missense 4/12 - 1
10-70405166-AT-GA c.2680_2681delinsGA p.I894E Missense 4/12 - 1
10-70405166-AT-GC c.2680_2681delinsGC p.I894A Missense 4/12 - 1
10-70405167-T-C c.2681T>C p.I894T Missense 4/12 - 1
10-70405169-G-A c.2683G>A p.E895K Missense 4/12 - 1
10-70405173-C-T c.2687C>T p.A896V Missense 4/12 - 7
10-70405174-C-T c.2688C>T p.A896= Synonymous 4/12 - 4
10-70405175-CT-GC c.2689_2690delinsGC p.L897A Missense 4/12 - 1
10-70405178-ACT-GAG c.2692_2694delinsGAG p.T898E Missense 4/12 - 1
10-70405178-A-G c.2692A>G p.T898A Missense 4/12 - 1
10-70405180-CTCAACTCTCA-C c.2694_2703del p.Q899Kfs*36 Frameshift 4/12 - 1
10-70405184-CT-GC c.2698_2699delinsGC p.L900A Missense 4/12 - 1
10-70405188-C-A c.2702C>A p.S901* Nonsense 4/12 - 1
10-70405188-C-G c.2702C>G p.S901* Nonsense 4/12 - 2
10-70405188-C-T c.2702C>T p.S901L Missense 4/12 - 2
10-70405196-C-T c.2710C>T p.P904S Missense 4/12 - 7
10-70405197-C-G c.2711C>G p.P904R Missense 4/12 - 1
10-70405200-C-A c.2714C>A p.S905* Nonsense 4/12 - 2
10-70405200-C-G c.2714C>G p.S905* Nonsense 4/12 - 2
10-70405200-C-T c.2714C>T p.S905L Missense 4/12 - 1
10-70405193-GCCCCATCAGAGAATTCCT-G c.2716_2733del p.E906_S911del InFrameDeletion 4/12 - 1
10-70405202-G-A c.2716G>A p.E906K Missense 4/12 - 1
10-70405203-A-G c.2717A>G p.E906G Missense 4/12 - 1
10-70405206-A-C c.2720A>C p.N907T Missense 4/12 - 1
10-70405206-A-G c.2720A>G p.N907S Missense 4/12 - 2
10-70405212-C-T c.2726C>T p.S909F Missense 4/12 - 1
10-70405213-C-A c.2727C>A p.S909= Synonymous 4/12 - 1
10-70405213-C-G c.2727C>G p.S909= Synonymous 4/12 - 1
10-70405213-C-T c.2727C>T p.S909= Synonymous 4/12 - 2
10-70405218-C-A c.2732C>A p.S911* Nonsense 4/12 - 1
10-70405218-C-G c.2732C>G p.S911* Nonsense 4/12 - 1
10-70405220-A-G c.2734A>G p.K912E Missense 4/12 - 3
10-70405223-T-C c.2737T>C p.S913P Missense 4/12 - 2
10-70405227-A-T c.2741A>T p.E914V Missense 4/12 - 1
10-70405228-G-A c.2742G>A p.E914= Synonymous 4/12 - 1
10-70405228-G-C c.2742G>C p.E914D Missense 4/12 - 3
10-70405228-G-T c.2742G>T p.E914D Missense 4/12 - 2
10-70405233-A-T c.2747A>T p.D916V Missense 4/12 - 2
10-70405237-G-A c.2751G>A p.E917= Synonymous 4/12 - 9
10-70405237-GG-AT c.2751_2752delinsAT p.E918* Missense 4/12 - 1
10-70405238-G-A c.2752G>A p.E918K Missense 4/12 - 1
10-70405242-C-A c.2756C>A p.S919* Nonsense 4/12 - 1
10-70405242-C-G c.2756C>G p.S919* Nonsense 4/12 - 2
10-70405247-C-A c.2761C>A p.Q921K Missense 4/12 - 2
10-70405251-G-C c.2765G>C p.R922T Missense 4/12 - 1
10-70405251-G-T c.2765G>T p.R922I Missense 4/12 - 2
10-70405250-A-C c.2764A>C p.R922= Synonymous 4/12 - 1
10-70405252-A-G c.2766A>G p.R922= Synonymous 4/12 - 1
10-70405253-A-G c.2767A>G p.T923A Missense 4/12 - 1
10-70405254-C-T c.2768C>T p.T923I Missense 4/12 - 2
10-70405262-T-G c.2776T>G p.L926V Missense 4/12 - 1
10-70405264-G-T c.2778G>T p.L926F Missense 4/12 - 1
10-70405272-G-T c.2786G>T p.S929I Missense 4/12 - 1
10-70405273-C-T c.2787C>T p.S929= Synonymous 4/12 - 1
10-70405286-C-T c.2800C>T p.L934F Missense 4/12 - 1
10-70405286-CTC-TAA c.2800_2802delinsTAA p.L934* Nonsense 4/12 - 1
10-70405292-A-G c.2806A>G p.T936A Missense 4/12 - 1
10-70405298-AG-CA c.2812_2813delinsCA p.R938Q Missense 4/12 - 1
10-70405298-A-T c.2812A>T p.R938* Nonsense 4/12 - 1
10-70405301-A-C c.2815A>C p.K939Q Missense 4/12 - 1
10-70405304-G-C c.2818G>C p.D940H Missense 4/12 - 1
10-70405309-C-A c.2823C>A p.L941= Synonymous 4/12 - 2
10-70405309-C-G c.2823C>G p.L941= Synonymous 4/12 - 2
10-70405309-C-T c.2823C>T p.L941= Synonymous 4/12 - 4
10-70405313-G-C c.2827G>C p.D943H Missense 4/12 - 1
10-70405315-C-T c.2829C>T p.D943= Synonymous 4/12 - 1
10-70405317-CA-AT c.2831_2832delinsAT p.P944H Missense 4/12 - 1
10-70405317-C-G c.2831C>G p.P944R Missense 4/12 - 1
10-70405321-C-CT c.2837dup p.L946Ffs*9 Frameshift 4/12 - 1
10-70405330-A-T c.2844A>T p.G948= Synonymous 4/12 - 4
10-70405334-C-T c.2848C>T p.P950S Missense 4/12 - 1
10-70405337-C-T c.2851C>T p.P951S Missense 4/12 - 1
10-70405344-T-G c.2858T>G p.L953R Missense 4/12 - 6
10-70405349-C-T c.2863C>T p.H955Y Missense 4/12 - 1
10-70405352-T-A c.2866T>A p.C956S Missense 4/12 - 1
10-70405353-G-C c.2867G>C p.C956S Missense 4/12 - 1
10-70405355-C-A c.2869C>A p.P957T Missense 4/12 - 1
10-70405355-C-T c.2869C>T p.P957S Missense 4/12 - 4
10-70405356-C-T c.2870C>T p.P957L Missense 4/12 - 2
10-70405362-T-A c.2876T>A p.L959* Nonsense 4/12 - 1
10-70405369-A-T c.2883A>T p.K961N Missense 4/12 - 1
10-70405374-G-T c.2888G>T p.S963I Missense 4/12 - 1
10-70405378-A-C c.2892A>C p.S964= Synonymous 4/12 - 2
10-70405378-A-G c.2892A>G p.S964= Synonymous 4/12 - 2
10-70405378-A-T c.2892A>T p.S964= Synonymous 4/12 - 2
10-70405383-A-G c.2897A>G p.N966S Missense 4/12 - 1
10-70405383-A-T c.2897A>T p.N966I Missense 4/12 - 3
10-70405384-C-T c.2898C>T p.N966= Synonymous 4/12 - 1
10-70405386-C-T c.2900C>T p.T967M Missense 4/12 - 1
10-70405387-G-A c.2901G>A p.T967= Synonymous 4/12 - 2
10-70405387-G-C c.2901G>C p.T967= Synonymous 4/12 - 2
10-70405387-G-T c.2901G>T p.T967= Synonymous 4/12 - 2
10-70405392-T-C c.2906T>C p.V969A Missense 4/12 - 1
10-70405400-G-A c.2914G>A p.G972R Missense 4/12 - 1
10-70405400-G-C c.2914G>C p.G972R Missense 4/12 - 1
10-70405400-G-T c.2914G>T p.G972W Missense 4/12 - 1
10-70405407-C-T c.2921C>T p.T974I Missense 4/12 - 1
10-70405408-T-A c.2922T>A p.T974= Synonymous 4/12 - 1
10-70405408-T-C c.2922T>C p.T974= Synonymous 4/12 - 1
10-70405408-T-G c.2922T>G p.T974= Synonymous 4/12 - 1
10-70405410-C-T c.2924C>T p.T975I Missense 4/12 - 2
10-70405415-C-A c.2929C>A p.L977I Missense 4/12 - 1
10-70405415-C-T c.2929C>T p.L977F Missense 4/12 - 6
10-70405419-C-G c.2933C>G p.S978C Missense 4/12 - 3
10-70405419-C-T c.2933C>T p.S978F Missense 4/12 - 1
10-70405422-A-C c.2936A>C p.N979T Missense 4/12 - 1
10-70405425-C-T c.2939C>T p.S980L Missense 4/12 - 2
10-70405426-A-C c.2940A>C p.S980= Synonymous 4/12 - 1
10-70405426-A-G c.2940A>G p.S980= Synonymous 4/12 - 1
10-70405426-A-T c.2940A>T p.S980= Synonymous 4/12 - 1
10-70405428-A-G c.2942A>G p.H981R Missense 4/12 - 1
10-70405432-C-G c.2946C>G p.I982M Missense 4/12 - 1
10-70405434-A-T c.2948A>T p.N983I Missense 4/12 - 1
10-70405437-C-T c.2951C>T p.S984L Missense 4/12 - 2
10-70405438-A-G c.2952A>G p.S984= Synonymous 4/12 - 1
10-70405439-G-T c.2953G>T p.A985S Missense 4/12 - 6
10-70405440-C-T c.2954C>T p.A985V Missense 4/12 - 1
10-70405451-G-A c.2965G>A p.A989T Missense 4/12 - 2
10-70405451-G-C c.2965G>C p.A989P Missense 4/12 - 1
10-70405452-CA-AC c.2966_2967delinsAC p.A989D Missense 4/12 - 1
10-70405454-TC-CT c.2968_2969delinsCT p.S990L Missense 4/12 - 1
10-70405456-C-T c.2970C>T p.S990= Synonymous 4/12 - 5
10-70405458-C-A c.2972C>A p.T991K Missense 4/12 - 3
10-70405458-C-T c.2972C>T p.T991I Missense 4/12 - 1
10-70405468-T-C c.2982T>C p.H994= Synonymous 4/12 - 1
10-70405475-TC-GG c.2989_2990delinsGG p.S997G Missense 4/12 - 2
10-70405476-C-T c.2990C>T p.S997L Missense 4/12 - 1
10-70405477-A-C c.2991A>C p.S997= Synonymous 4/12 - 1
10-70405477-A-G c.2991A>G p.S997= Synonymous 4/12 - 1
10-70405477-A-T c.2991A>T p.S997= Synonymous 4/12 - 1
10-70405480-A-C c.2994A>C p.K998N Missense 4/12 - 2
10-70405480-A-T c.2994A>T p.K998N Missense 4/12 - 2
10-70405481-GTCACAAAT-G c.2999_3006del p.T1000Ifs*14 Frameshift 4/12 - 1
10-70405493-T-G c.3007T>G p.L1003V Missense 4/12 - 1
10-70405484-ACAAATTCATTATCTCTTTTTATACCAAAAT-A c.3008_3037del p.L1003_S1012del InFrameDeletion 4/12 - 1
10-70405494-T-C c.3008T>C p.L1003S Missense 4/12 - 1
10-70405497-C-T c.3011C>T p.S1004F Missense 4/12 - 1
10-70405498-T-A c.3012T>A p.S1004= Synonymous 4/12 - 2
10-70405498-T-C c.3012T>C p.S1004= Synonymous 4/12 - 2
10-70405498-T-G c.3012T>G p.S1004= Synonymous 4/12 - 2
10-70405499-C-G c.3013C>G p.L1005V Missense 4/12 - 2
10-70405505-A-G c.3019A>G p.I1007V Missense 4/12 - 1
10-70405506-T-C c.3020T>C p.I1007T Missense 4/12 - 1
10-70405515-C-A c.3029C>A p.S1010* Nonsense 4/12 - 1
10-70405515-C-G c.3029C>G p.S1010* Nonsense 4/12 - 1
10-70405524-C-G c.3038C>G p.S1013C Missense 4/12 - 1
10-70405524-C-T c.3038C>T p.S1013F Missense 4/12 - 1
10-70405527-AG-TC c.3041_3042delinsTC p.K1014I Missense 4/12 - 1
10-70405529-A-T c.3043A>T p.I1015F Missense 4/12 - 1
10-70405530-T-C c.3044T>C p.I1015T Missense 4/12 - 1
10-70405531-T-G c.3045T>G p.I1015M Missense 4/12 - 1
10-70405532-G-A c.3046G>A p.D1016N Missense 4/12 - 1
10-70405532-G-C c.3046G>C p.D1016H Missense 4/12 - 1
10-70405537-CAATAAA-C c.3053_3058del p.N1018_K1019del InFrameDeletion 4/12 - 1
10-70405539-A-G c.3053A>G p.N1018S Missense 4/12 - 28
10-70405539-ATA-GTG c.3053_3055delinsGTG p.N1018_K1019delinsSE MultiAAMissense 4/12 - 4
10-70405537-CAAT-C c.3054_3056del p.N1018del InFrameDeletion 4/12 - 1
10-70405540-T-C c.3054T>C p.N1018= Synonymous 4/12 - 1
10-70405541-A-G c.3055A>G p.K1019E Missense 4/12 - 12
10-70405540-TAAA-T c.3056_3058del p.K1019del InFrameDeletion 4/12 - 1
10-70405544-A-T c.3058A>T p.S1020C Missense 4/12 - 1
10-70405545-G-A c.3059G>A p.S1020N Missense 4/12 - 4
10-70405546-T-C c.3060T>C p.S1020= Synonymous 4/12 - 1
10-70405556-GG-AA c.3070_3071delinsAA p.G1024K Missense 4/12 - 1
10-70405556-G-T c.3070G>T p.G1024W Missense 4/12 - 1
10-70405557-G-A c.3071G>A p.G1024E Missense 4/12 - 1
10-70405566-C-T c.3080C>T p.T1027I Missense 4/12 - 1
10-70405568-C-A c.3082C>A p.L1028I Missense 4/12 - 1
10-70405569-T-A c.3083T>A p.L1028H Missense 4/12 - 2
10-70405571-G-C c.3085G>C p.D1029H Missense 4/12 - 1
10-70405575-A-G c.3089A>G p.N1030S Missense 4/12 - 1
10-70405576-T-C c.3090T>C p.N1030= Synonymous 4/12 - 2
10-70405578-G-A c.3092G>A p.C1031Y Missense 4/12 - 1
10-70405582-C-T c.3096C>T p.S1032= Synonymous 4/12 - 2
10-70405583-A-G c.3097A>G p.N1033D Missense 4/12 - 1
10-70405587-A-T c.3101A>T p.D1034V Missense 4/12 - 4
10-70405589-T-C c.3103T>C p.L1035= Synonymous 4/12 - 2
10-70405591-G-A c.3105G>A p.L1035= Synonymous 4/12 - 2
10-70405594-T-G c.3108T>G p.H1036Q Missense 4/12 - 1
10-70405595-C-A c.3109C>A p.Q1037K Missense 4/12 - 2
10-70405595-C-T c.3109C>T p.Q1037* Nonsense 4/12 - 1
10-70405604-C-T c.3118C>T p.P1040S Missense 4/12 - 3
10-70405605-C-T c.3119C>T p.P1040L Missense 4/12 - 3
10-70405606-A-C c.3120A>C p.P1040= Synonymous 4/12 - 1
10-70405606-A-G c.3120A>G p.P1040= Synonymous 4/12 - 2
10-70405606-A-T c.3120A>T p.P1040= Synonymous 4/12 - 1
10-70405608-G-T c.3122G>T p.R1041I Missense 4/12 - 1
10-70405611-A-G c.3125A>G p.N1042S Missense 4/12 - 1
10-70405612-T-C c.3126T>C p.N1042= Synonymous 4/12 - 1
10-70405614-A-G c.3128A>G p.N1043S Missense 4/12 - 1
10-70405626-A-G c.3140A>G p.Y1047C Missense 4/12 - 1
10-70405630-C-A c.3144C>A p.C1048* Nonsense 4/12 - 3
10-70405633-C-A c.3147C>A p.N1049K Missense 4/12 - 2
10-70405633-C-G c.3147C>G p.N1049K Missense 4/12 - 2
10-70405634-C-A c.3148C>A p.Q1050K Missense 4/12 - 2
10-70405643-G-A c.3157G>A p.D1053N Missense 4/12 - 1
10-70405643-G-C c.3157G>C p.D1053H Missense 4/12 - 1
10-70405651-C-CT c.3165_3166insT p.K1056* Nonsense 4/12 - 1
10-70405651-CA-C c.3171del p.K1057Nfs*25 Frameshift 4/12 - 1
10-70405658-T-A c.3172T>A p.L1058M Missense 4/12 - 1
10-70405670-G-A c.3184G>A p.D1062N Missense 4/12 - 3
10-70405672-T-C c.3186T>C p.D1062= Synonymous 4/12 - 4
10-70405677-C-T c.3191C>T p.S1064L Missense 4/12 - 1
10-70405680-G-A c.3194G>A p.C1065Y Missense 4/12 - 1
10-70405684-G-C c.3198G>C p.Q1066H Missense 4/12 - 2
10-70405684-G-T c.3198G>T p.Q1066H Missense 4/12 - 2
10-70405686-A-C c.3200A>C p.D1067A Missense 4/12 - 1
10-70405687-T-C c.3201T>C p.D1067= Synonymous 4/12 - 1
10-70405688-G-A c.3202G>A p.A1068T Missense 4/12 - 1
10-70405700-C-T c.3214C>T p.Q1072* Nonsense 4/12 - 2
10-70405701-A-G c.3215A>G p.Q1072R Missense 4/12 - 1
10-70405703-A-G c.3217A>G p.I1073V Missense 4/12 - 1
10-70405705-T-A c.3219T>A p.I1073= Synonymous 4/12 - 1
10-70405705-T-C c.3219T>C p.I1073= Synonymous 4/12 - 1
10-70405706-G-C c.3220G>C p.E1074Q Missense 4/12 - 3
10-70405709-G-A c.3223G>A p.E1075K Missense 4/12 - 1
10-70405712-G-A c.3226G>A p.D1076N Missense 4/12 - 1
10-70405716-T-C c.3230T>C p.V1077A Missense 4/12 - 2
10-70405718-G-C c.3232G>C p.A1078P Missense 4/12 - 1
10-70405720-A-T c.3234A>T p.A1078= Synonymous 4/12 - 1
10-70405724-C-G c.3238C>G p.Q1080E Missense 4/12 - 1
10-70405725-A-C c.3239A>C p.Q1080P Missense 4/12 - 1
10-70405736-C-T c.3250C>T p.L1084F Missense 4/12 - 3
10-70405743-C-T c.3257C>T p.S1086L Missense 4/12 - 6
10-70405744-G-A c.3258G>A p.S1086= Synonymous 4/12 - 3
10-70405744-G-C c.3258G>C p.S1086= Synonymous 4/12 - 2
10-70405744-G-T c.3258G>T p.S1086= Synonymous 4/12 - 2
10-70405753-G-C c.3267G>C p.K1089N Missense 4/12 - 1
10-70405753-G-T c.3267G>T p.K1089N Missense 4/12 - 1
10-70405757-A-T c.3271A>T p.N1091Y Missense 4/12 - 1
10-70405757-AATT-A c.3274_3276del p.Y1092del InFrameDeletion 4/12 - 1
10-70405767-A-G c.3281A>G p.K1094R Missense 4/12 - 1
10-70405770-C-A c.3284C>A p.P1095Q Missense 4/12 - 1
10-70405772-G-C c.3286G>C p.E1096Q Missense 4/12 - 2
10-70405775-G-A c.3289G>A p.D1097N Missense 4/12 - 2
10-70405782-A-C c.3296A>C p.K1099T Missense 4/12 - 3
10-70405777-CA-C c.3297del p.V1100Lfs*40 Frameshift 4/12 - 1
10-70405784-G-A c.3298G>A p.V1100I Missense 4/12 - 1
10-70405788-A-G c.3302A>G p.E1101G Missense 4/12 - 2
10-70405792-T-C c.3306T>C p.S1102= Synonymous 4/12 - 1
10-70405802-A-G c.3316A>G p.S1106G Missense 4/12 - 1
10-70405805-C-T c.3319C>T p.L1107F Missense 4/12 - 2
10-70405809-T-C c.3323T>C p.V1108A Missense 4/12 - 1
10-70405811-A-T c.3325A>T p.T1109S Missense 4/12 - 1
10-70405815-G-T c.3329G>T p.C1110F Missense 4/12 - 1
10-70405823-C-T c.3337C>T p.Q1113* Nonsense 4/12 - 3
10-70405826-C-T c.3340C>T p.Q1114* Nonsense 4/12 - 1
10-70405848-G-A c.3362G>A p.G1121D Missense 4/12 - 1
10-70405851-C-A c.3365C>A p.T1122K Missense 4/12 - 1
10-70405855-A-C c.3369A>C p.I1123= Synonymous 4/12 - 1
10-70405855-A-G c.3369A>G p.I1123M Missense 4/12 - 56
10-70405855-A-T c.3369A>T p.I1123= Synonymous 4/12 - 14
10-70405857-A-G c.3371A>G p.Q1124R Missense 4/12 - 1
10-70405858-A-C c.3372A>C p.Q1124H Missense 4/12 - 1
10-70405858-A-T c.3372A>T p.Q1124H Missense 4/12 - 1
10-70405860-A-C c.3374A>C p.Q1125P Missense 4/12 - 1
10-70405861-G-C c.3375G>C p.Q1125H Missense 4/12 - 1
10-70405861-G-T c.3375G>T p.Q1125H Missense 4/12 - 1
10-70405864-A-C c.3378A>C p.K1126N Missense 4/12 - 1
10-70405864-A-G c.3378A>G p.K1126= Synonymous 4/12 - 1
10-70405865-C-T c.3379C>T p.P1127S Missense 4/12 - 4
10-70405866-C-T c.3380C>T p.P1127L Missense 4/12 - 1
10-70405867-A-G c.3381A>G p.P1127= Synonymous 4/12 - 1
10-70405872-C-T c.3386C>T p.S1129L Missense 4/12 - 4
10-70405887-A-T c.3401A>T p.N1134I Missense 4/12 - 1
10-70405890-A-G c.3404A>G p.H1135R Missense 4/12 - 1
10-70405892-G-T c.3406G>T p.G1136C Missense 4/12 - 1
10-70405893-G-A c.3407G>A p.G1136D Missense 4/12 - 1
10-70405894-T-A c.3408T>A p.G1136= Synonymous 4/12 - 1
10-70405894-T-C c.3408T>C p.G1136= Synonymous 4/12 - 1
10-70405894-T-G c.3408T>G p.G1136= Synonymous 4/12 - 1
10-70405899-C-T c.3413C>T p.S1138L Missense 4/12 - 1
10-70405901-T-A c.3415T>A p.L1139I Missense 4/12 - 3
10-70405901-T-C c.3415T>C p.L1139= Synonymous 4/12 - 3
10-70405902-TAAC-T c.3419_3421del p.T1140del InFrameDeletion 4/12 - 1
10-70405910-C-A c.3424C>A p.Q1142K Missense 4/12 - 1
10-70405912-A-C c.3426A>C p.Q1142H Missense 4/12 - 1
10-70405912-A-T c.3426A>T p.Q1142H Missense 4/12 - 1
10-70405915-G-C c.3429G>C p.K1143N Missense 4/12 - 4
10-70405915-G-T c.3429G>T p.K1143N Missense 4/12 - 4
10-70405922-A-C c.3436A>C p.T1146P Missense 4/12 - 1
10-70405922-A-T c.3436A>T p.T1146S Missense 4/12 - 1
10-70405923-C-A c.3437C>A p.T1146N Missense 4/12 - 1
10-70405923-C-T c.3437C>T p.T1146I Missense 4/12 - 1
10-70405932-A-G c.3446A>G p.K1149R Missense 4/12 - 3
10-70405933-G-A c.3447G>A p.K1149= Synonymous 4/12 - 1
10-70405933-G-C c.3447G>C p.K1149N Missense 4/12 - 1
10-70405933-G-T c.3447G>T p.K1149N Missense 4/12 - 1
10-70405937-A-G c.3451A>G p.K1151E Missense 4/12 - 1
10-70405944-C-A c.3458C>A p.T1153N Missense 4/12 - 1
10-70405944-C-T c.3458C>T p.T1153I Missense 4/12 - 1
10-70405952-AG-CA c.3466_3467delinsCA p.R1156Q Missense 4/12 - 1
10-70405953-G-A c.3467G>A p.R1156K Missense 4/12 - 2
10-70405953-G-C c.3467G>C p.R1156T Missense 4/12 - 1
10-70405955-G-A c.3469G>A p.D1157N Missense 4/12 - 1
10-70405955-G-T c.3469G>T p.D1157Y Missense 4/12 - 1
10-70405958-C-A c.3472C>A p.R1158= Synonymous 4/12 - 1
10-70405958-C-T c.3472C>T p.R1158W Missense 4/12 - 8
10-70405960-G-A c.3474G>A p.R1158= Synonymous 4/12 - 1
10-70405960-G-C c.3474G>C p.R1158= Synonymous 4/12 - 1
10-70405960-G-T c.3474G>T p.R1158= Synonymous 4/12 - 1
10-70405959-G-A c.3473G>A p.R1158Q Missense 4/12 - 1
10-70405961-C-T c.3475C>T p.R1159W Missense 4/12 - 3
10-70405962-G-A c.3476G>A p.R1159Q Missense 4/12 - 7
10-70405963-G-T c.3477G>T p.R1159= Synonymous 4/12 - 1
10-70405964-A-G c.3478A>G p.K1160E Missense 4/12 - 1
10-70405968-A-G c.3482A>G p.K1161R Missense 4/12 - 2
10-70405969-G-C c.3483G>C p.K1161N Missense 4/12 - 1
10-70405969-G-T c.3483G>T p.K1161N Missense 4/12 - 1
10-70405971-A-T c.3485A>T p.K1162M Missense 4/12 - 1
10-70405973-C-T c.3487C>T p.P1163S Missense 4/12 - 1
10-70405974-C-G c.3488C>G p.P1163R Missense 4/12 - 1
10-70405974-C-T c.3488C>T p.P1163L Missense 4/12 - 1
10-70405975-C-T c.3489C>T p.P1163= Synonymous 4/12 - 2
10-70405977-C-T c.3491C>T p.T1164I Missense 4/12 - 3
10-70405980-T-A c.3494T>A p.V1165D Missense 4/12 - 1
10-70405986-G-A c.3500G>A p.S1167N Missense 4/12 - 1
10-70405987-T-C c.3501T>C p.S1167= Synonymous 4/12 - 1
10-70405992-A-G c.3506A>G p.Q1169R Missense 4/12 - 1
10-70405994-G-A c.3508G>A p.E1170K Missense 4/12 - 1
10-70405994-G-C c.3508G>C p.E1170Q Missense 4/12 - 2
10-70405996-A-C c.3510A>C p.E1170D Missense 4/12 - 1
10-70405996-A-T c.3510A>T p.E1170D Missense 4/12 - 1
10-70405998-A-T c.3512A>T p.N1171I Missense 4/12 - 1
10-70406000-G-T c.3514G>T p.D1172Y Missense 4/12 - 1
10-70406003-C-T c.3517C>T p.R1173W Missense 4/12 - 2
10-70406004-G-A c.3518G>A p.R1173Q Missense 4/12 - 4
10-70406007-A-G c.3521A>G p.Q1174R Missense 4/12 - 1
10-70406011-G-A c.3525G>A p.K1175= Synonymous 4/12 - 1
10-70406011-G-C c.3525G>C p.K1175N Missense 4/12 - 1
10-70406011-G-T c.3525G>T p.K1175N Missense 4/12 - 1
10-70406013-G-A c.3527G>A p.W1176* Nonsense 4/12 - 1
10-70406015-G-A c.3529G>A p.E1177K Missense 4/12 - 1
10-70406015-G-C c.3529G>C p.E1177Q Missense 4/12 - 1
10-70406019-A-C c.3533A>C p.K1178T Missense 4/12 - 2
10-70406020-G-A c.3534G>A p.K1178= Synonymous 4/12 - 2
10-70406021-T-C c.3535T>C p.L1179= Synonymous 4/12 - 1
10-70406023-G-A c.3537G>A p.L1179= Synonymous 4/12 - 1
10-70406025-C-T c.3539C>T p.S1180F Missense 4/12 - 1
10-70406030-A-G c.3544A>G p.M1182V Missense 4/12 - 1
10-70406031-T-G c.3545T>G p.M1182R Missense 4/12 - 1
10-70406034-A-G c.3548A>G p.Y1183C Missense 4/12 - 3
10-70406036-G-T c.3550G>T p.G1184C Missense 4/12 - 1
10-70406040-C-T c.3554C>T p.T1185I Missense 4/12 - 1
10-70406043-T-C c.3557T>C p.I1186T Missense 4/12 - 1
10-70406047-C-T c.3561C>T p.C1187= Synonymous 4/12 - 1
10-70406048-G-A c.3562G>A p.D1188N Missense 4/12 - 3
10-70406049-A-T c.3563A>T p.D1188V Missense 4/12 - 1
10-70406057-A-C c.3571A>C p.I1191L Missense 4/12 - 2
10-70406057-A-G c.3571A>G p.I1191V Missense 4/12 - 1
10-70406057-A-T c.3571A>T p.I1191L Missense 4/12 - 2
10-70406058-T-C c.3572T>C p.I1191T Missense 4/12 - 1
10-70406062-A-C c.3576A>C p.A1192= Synonymous 4/12 - 1
10-70406062-A-G c.3576A>G p.A1192= Synonymous 4/12 - 1
10-70406062-A-T c.3576A>T p.A1192= Synonymous 4/12 - 1
10-70406064-C-A c.3578C>A p.S1193* Nonsense 4/12 - 1
10-70406064-C-T c.3578C>T p.S1193L Missense 4/12 - 1
10-70406065-G-A c.3579G>A p.S1193= Synonymous 4/12 - 5
10-70406065-G-C c.3579G>C p.S1193= Synonymous 4/12 - 1
10-70406065-G-T c.3579G>T p.S1193= Synonymous 4/12 - 1
10-70406072-C-G c.3586C>G p.Q1196E Missense 4/12 - 1
10-70406078-T-G c.3592T>G p.F1198V Missense 4/12 - 2
10-70406081-G-T c.3595G>T p.G1199W Missense 4/12 - 1
10-70406082-G-A c.3596G>A p.G1199E Missense 4/12 - 2
10-70406083-G-A c.3597G>A p.G1199= Synonymous 4/12 - 1
10-70406083-G-C c.3597G>C p.G1199= Synonymous 4/12 - 1
10-70406083-G-T c.3597G>T p.G1199= Synonymous 4/12 - 2
10-70406084-C-T c.3598C>T p.Q1200* Nonsense 4/12 - 1
10-70406087-T-C c.3601T>C p.F1201L Missense 4/12 - 1
10-70406089-T-A c.3603T>A p.F1201L Missense 4/12 - 1
10-70406089-T-G c.3603T>G p.F1201L Missense 4/12 - 1
10-70406089-T-C c.3603T>C p.F1201= Synonymous 4/12 - 3
10-70406091-G-A c.3605G>A p.C1202Y Missense 4/12 - 1
10-70406091-G-T c.3605G>T p.C1202F Missense 4/12 - 1
10-70406093-C-T c.3607C>T p.P1203S Missense 4/12 - 1
10-70406098-T-C c.3612T>C p.H1204= Synonymous 4/12 - 1
10-70406099-G-T c.3613G>T p.D1205Y Missense 4/12 - 2
10-70406106-C-T c.3620C>T p.P1207L Missense 4/12 - 1
10-70406109-C-T c.3623C>T p.T1208I Missense 4/12 - 4
10-70406111-G-T c.3625G>T p.V1209L Missense 4/12 - 1
10-70406115-T-G c.3629T>G p.F1210C Missense 4/12 - 1
10-70406119-G-A c.3633G>A p.G1211= Synonymous 4/12 - 1
10-70406119-G-C c.3633G>C p.G1211= Synonymous 4/12 - 1
10-70406119-G-T c.3633G>T p.G1211= Synonymous 4/12 - 1
10-70406120-A-G c.3634A>G p.K1212E Missense 4/12 - 2
10-70406122-A-C c.3636A>C p.K1212N Missense 4/12 - 2
10-70406122-A-G c.3636A>G p.K1212= Synonymous 4/12 - 4
10-70406122-A-T c.3636A>T p.K1212N Missense 4/12 - 2
10-70406123-A-T c.3637A>T p.I1213F Missense 4/12 - 1
10-70406126-T-C c.3640T>C p.S1214P Missense 4/12 - 1
10-70406127-C-A c.3641C>A p.S1214Y Missense 4/12 - 2
10-70406127-TC-T c.3641del p.S1214Ffs*29 Frameshift 4/12 - 1
10-70406132-TC-AG c.3646_3647delinsAG p.S1216R Missense 4/12 - 1
10-70406132-T-G c.3646T>G p.S1216A Missense 4/12 - 2
10-70406133-C-T c.3647C>T p.S1216L Missense 4/12 - 2
10-70406136-C-T c.3650C>T p.T1217I Missense 4/12 - 2
10-70406138-A-C c.3652A>C p.K1218Q Missense 4/12 - 1
10-70406141-A-G c.3655A>G p.I1219V Missense 4/12 - 1
10-70406143-A-G c.3657A>G p.I1219M Missense 4/12 - 1
10-70406145-G-A c.3659G>A p.W1220* Nonsense 4/12 - 1
10-70406149-A-C c.3663A>C p.K1221N Missense 4/12 - 1
10-70406149-A-T c.3663A>T p.K1221N Missense 4/12 - 1
10-70406151-C-T c.3665C>T p.P1222L Missense 4/12 - 1
10-70406163-C-T c.3677C>T p.T1226M Missense 4/12 - 1
10-70406164-G-A c.3678G>A p.T1226= Synonymous 4/12 - 1
10-70406169-C-T c.3683C>T p.S1228F Missense 4/12 - 2
10-70406173-T-G c.3687T>G p.I1229M Missense 4/12 - 1
10-70406178-A-G c.3692A>G p.Q1231R Missense 4/12 - 3
10-70406180-CC-TT c.3694_3695delinsTT p.P1232F Missense 4/12 - 1
10-70406181-C-T c.3695C>T p.P1232L Missense 4/12 - 2
10-70406187-C-T c.3701C>T p.T1234I Missense 4/12 - 2
10-70406188-A-C c.3702A>C p.T1234= Synonymous 4/12 - 1
10-70406188-A-G c.3702A>G p.T1234= Synonymous 4/12 - 1
10-70406188-A-T c.3702A>T p.T1234= Synonymous 4/12 - 2
10-70406189-G-C c.3703G>C p.V1235L Missense 4/12 - 6
10-70406189-G-T c.3703G>T p.V1235L Missense 4/12 - 2
10-70406190-T-A c.3704T>A p.V1235E Missense 4/12 - 1
10-70406190-T-C c.3704T>C p.V1235A Missense 4/12 - 1
10-70406195-C-T c.3709C>T p.P1237S Missense 4/12 - 3
10-70406209-G-A c.3723G>A p.Q1241= Synonymous 4/12 - 2
10-70406220-A-G c.3734A>G p.Q1245R Missense 4/12 - 3
10-70406221-G-C c.3735G>C p.Q1245H Missense 4/12 - 1
10-70406221-G-T c.3735G>T p.Q1245H Missense 4/12 - 1
10-70406228-C-T c.3742C>T p.P1248S Missense 4/12 - 2
10-70406229-C-T c.3743C>T p.P1248L Missense 4/12 - 3
10-70406232-A-G c.3746A>G p.E1249G Missense 4/12 - 1
10-70406173-T-TATGCAACCCAAAACAGTATTTCCACCACTCACTCAGATAAAATTACAGAGATATCCTGAAAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAA c.3747_3748insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAATGCAACCCAAAACAGTATTTCCACCACTCACTCAGATAAAATTACAGAGATATCCTGAA p.S1250Rfs*14 Frameshift 4/12 - 1
10-70406235-C-A c.3749C>A p.S1250* Nonsense 4/12 - 1
10-70406235-C-G c.3749C>G p.S1250* Nonsense 4/12 - 1
10-70406237-G-T c.3751G>T p.A1251S Missense 4/12 - 1
10-70406238-C-A c.3752C>A p.A1251E Missense 4/12 - 1
10-70406241-A-T c.3755A>T p.E1252V Missense 4/12 - 1
10-70406255-G-T c.3769G>T p.V1257F Missense 4/12 - 7
10-70406261-C-T c.3775C>T p.P1259S Missense 4/12 - 2
10-70406266-G-T c.3780G>T p.L1260F Missense 4/12 - 1
10-70406275-C-T c.3789C>T p.L1263= Synonymous 4/12 - 1
10-70406277-G-T c.3791G>T p.S1264I Missense 4/12 - 1
10-70406278-C-T c.3792C>T p.S1264= Synonymous 4/12 - 1
10-70406280-T-A c.3794T>A p.L1265* Nonsense 4/12 - 1
10-70406280-T-G c.3794T>G p.L1265* Nonsense 4/12 - 1
10-70406285-C-T c.3799C>T p.H1267Y Missense 4/12 - 1
10-70406288-C-T c.3802C>T p.L1268F Missense 4/12 - 1
10-70406292-A-G c.3806A>G p.K1269R Missense 4/12 - 1
10-70406293-A-C c.3807A>C p.K1269N Missense 4/12 - 2
10-70406295-C-T c.3809C>T p.T1270M Missense 4/12 - 1
10-70406296-G-A c.3810G>A p.T1270= Synonymous 4/12 - 1
10-70406296-G-C c.3810G>C p.T1270= Synonymous 4/12 - 1
10-70406296-G-T c.3810G>T p.T1270= Synonymous 4/12 - 1
10-70406297-G-A c.3811G>A p.E1271K Missense 4/12 - 3
10-70406301-C-T c.3815C>T p.S1272F Missense 4/12 - 1
10-70406304-A-G c.3818A>G p.N1273S Missense 4/12 - 1
10-70406304-A-T c.3818A>T p.N1273I Missense 4/12 - 1
10-70406305-C-T c.3819C>T p.N1273= Synonymous 4/12 - 3
10-70406306-G-A c.3820G>A p.G1274R Missense 4/12 - 2
10-70406306-G-C c.3820G>C p.G1274R Missense 4/12 - 2
10-70406306-G-T c.3820G>T p.G1274W Missense 4/12 - 1
10-70406310-A-C c.3824A>C p.K1275T Missense 4/12 - 1
10-70406317-C-T c.3831C>T p.F1277= Synonymous 4/12 - 2
10-70406323-T-C c.3837T>C p.D1279= Synonymous 4/12 - 2
10-70406325-A-C c.3839A>C p.K1280T Missense 4/12 - 1
10-70406328-C-T c.3842C>T p.A1281V Missense 4/12 - 1
10-70406332-T-C c.3846T>C p.Y1282= Synonymous 4/12 - 4
10-70406334-A-G c.3848A>G p.N1283S Missense 4/12 - 1
10-70406337-C-A c.3851C>A p.S1284Y Missense 4/12 - 2
10-70406339-C-A c.3853C>A p.Q1285K Missense 4/12 - 1
10-70406339-C-G c.3853C>G p.Q1285E Missense 4/12 - 3
10-70406347-G-A c.3861G>A p.Q1287= Synonymous 4/12 - 2
10-70406351-A-C c.3865A>C p.T1289P Missense 4/12 - 1
10-70406352-C-T c.3866C>T p.T1289M Missense 4/12 - 7
10-70406353-G-A c.3867G>A p.T1289= Synonymous 4/12 - 2
10-70406353-G-C c.3867G>C p.T1289= Synonymous 4/12 - 2
10-70406353-G-T c.3867G>T p.T1289= Synonymous 4/12 - 3
10-70406364-A-T c.3878A>T p.N1293I Missense 4/12 - 1
10-70406366-C-T c.3880C>T p.Q1294* Nonsense 4/12 - 2
10-70406369-A-G c.3883A>G p.K1295E Missense 4/12 - 1
10-70406373-C-T c.3887C>T p.A1296V Missense 4/12 - 1
10-70406374-CC-TT c.3888_3889delinsTT p.H1297Y Missense 4/12 - 1
10-70406374-C-T c.3888C>T p.A1296= Synonymous 4/12 - 2
10-70406375-C-T c.3889C>T p.H1297Y Missense 4/12 - 6
10-70406378-C-T c.3892C>T p.P1298S Missense 4/12 - 1
10-70406379-C-T c.3893C>T p.P1298L Missense 4/12 - 4
10-70406383-G-C c.3897G>C p.L1299F Missense 4/12 - 1
10-70406386-C-A c.3900C>A p.T1300= Synonymous 4/12 - 2
10-70406386-C-G c.3900C>G p.T1300= Synonymous 4/12 - 1
10-70406386-C-T c.3900C>T p.T1300= Synonymous 4/12 - 1
10-70406387-C-T c.3901C>T p.Q1301* Nonsense 4/12 - 1
10-70406389-G-A c.3903G>A p.Q1301= Synonymous 4/12 - 1
10-70406393-TCCTCTCCACCTAACCAGTGTGCTAACGTGATGGCAGGCGATGACCAAATACGGTTTCAG-T c.3909_3967del p.S1304Gfs*3 Frameshift 4/12 - 1
10-70406397-C-G c.3911C>G p.S1304C Missense 4/12 - 1
10-70406398-T-A c.3912T>A p.S1304= Synonymous 4/12 - 1
10-70406398-T-C c.3912T>C p.S1304= Synonymous 4/12 - 1
10-70406398-T-G c.3912T>G p.S1304= Synonymous 4/12 - 1
10-70406418-A-G c.3932A>G p.N1311S Missense 4/12 - 1
10-70406419-C-A c.3933C>A p.N1311K Missense 4/12 - 1
10-70406419-C-G c.3933C>G p.N1311K Missense 4/12 - 1
10-70406420-G-A c.3934G>A p.V1312M Missense 4/12 - 5
10-70406427-C-T c.3941C>T p.A1314V Missense 4/12 - 2
10-70406428-A-T c.3942A>T p.A1314= Synonymous 4/12 - 1
10-70406429-G-T c.3943G>T p.G1315C Missense 4/12 - 1
10-70406430-GC-AG c.3944_3945delinsAG p.G1315E Missense 4/12 - 1
10-70406430-G-T c.3944G>T p.G1315V Missense 4/12 - 1
10-70406432-G-T c.3946G>T p.D1316Y Missense 4/12 - 1
10-70406435-G-T c.3949G>T p.D1317Y Missense 4/12 - 1
10-70406444-C-T c.3958C>T p.R1320W Missense 4/12 - 2
10-70406445-G-A c.3959G>A p.R1320Q Missense 4/12 - 2
10-70406447-T-G c.3961T>G p.F1321V Missense 4/12 - 1
10-70406450-C-T c.3964C>T p.Q1322* Nonsense 4/12 - 2
10-70406467-G-A c.3981G>A p.E1327= Synonymous 4/12 - 1
10-70406468-C-A c.3982C>A p.Q1328K Missense 4/12 - 1
10-70406469-A-G c.3983A>G p.Q1328R Missense 4/12 - 1
10-70406475-T-C c.3989T>C p.M1330T Missense 4/12 - 1
10-70406468-C-CAACTCATGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACGCTTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAA c.3990_3991insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACGCTTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACTCATG p.H1331Rfs*49 Frameshift 4/12 - 1
10-70406477-C-A c.3991C>A p.H1331N Missense 4/12 - 1
10-70406482-G-C c.3996G>C p.Q1332H Missense 4/12 - 1
10-70406482-G-T c.3996G>T p.Q1332H Missense 4/12 - 1
10-70406483-A-G c.3997A>G p.R1333G Missense 4/12 - 1
10-70406483-AG-CA c.3997_3998delinsCA p.R1333Q Missense 4/12 - 1
10-70406490-C-T c.4004C>T p.P1335L Missense 4/12 - 1
10-70406492-A-G c.4006A>G p.T1336A Missense 4/12 - 1
10-70406495-T-C c.4009T>C p.L1337= Synonymous 4/12 - 1
10-70406495-T-G c.4009T>G p.L1337V Missense 4/12 - 2
10-70406497-G-A c.4011G>A p.L1337= Synonymous 4/12 - 1
10-70406501-G-A c.4015G>A p.G1339S Missense 4/12 - 1
10-70406502-G-A c.4016G>A p.G1339D Missense 4/12 - 1
10-70406506-C-G c.4020C>G p.I1340M Missense 4/12 - 1
10-70406508-C-A c.4022C>A p.S1341Y Missense 4/12 - 1
10-70406510-C-T c.4024C>T p.H1342Y Missense 4/12 - 2
10-70406513-G-T c.4027G>T p.E1343* Nonsense 4/12 - 1
10-70406513-TGAA-T c.4027_4029del p.E1343del InFrameDeletion 4/12 - 1
10-70406517-C-T c.4031C>T p.T1344I Missense 4/12 - 1
10-70406518-A-T c.4032A>T p.T1344= Synonymous 4/12 - 3
10-70406519-CC-TG c.4033_4034delinsTG p.P1345C Missense 4/12 - 1
10-70406520-C-T c.4034C>T p.P1345L Missense 4/12 - 8
10-70406522-T-G c.4036T>G p.L1346V Missense 4/12 - 1
10-70406523-T-C c.4037T>C p.L1346S Missense 4/12 - 1
10-70406526-C-T c.4040C>T p.P1347L Missense 4/12 - 4
10-70406534-G-A c.4048G>A p.A1350T Missense 4/12 - 1
10-70406540-A-T c.4054A>T p.T1352S Missense 4/12 - 2
10-70406541-C-G c.4055C>G p.T1352S Missense 4/12 - 3
10-70406541-CT-AG c.4055_4056inv p.T1352K Missense 4/12 - 1
10-70406542-T-A c.4056T>A p.T1352= Synonymous 4/12 - 1
10-70406542-T-C c.4056T>C p.T1352= Synonymous 4/12 - 1
10-70406542-T-G c.4056T>G p.T1352= Synonymous 4/12 - 1
10-70406543-C-T c.4057C>T p.L1353F Missense 4/12 - 1
10-70406559-T-G c.4073T>G p.V1358G Missense 4/12 - 1
10-70406561-G-C c.4075G>C p.V1359L Missense 4/12 - 1
10-70406565-G-A c.4079G>A p.C1360Y Missense 4/12 - 3
10-70406568-C-T c.4082C>T p.S1361L Missense 4/12 - 1
10-70406576-A-C c.4090A>C p.I1364L Missense 4/12 - 1
10-70406579-A-T c.4093A>T p.T1365S Missense 4/12 - 1
10-70406580-C-T c.4094C>T p.T1365I Missense 4/12 - 1
10-70406588-TC-CG c.4102_4103delinsCG p.S1368R Missense 4/12 - 1
10-70406589-C-A c.4103C>A p.S1368Y Missense 4/12 - 1
10-70406589-C-T c.4103C>T p.S1368F Missense 4/12 - 1
10-70406590-T-A c.4104T>A p.S1368= Synonymous 4/12 - 1
10-70406595-A-C c.4109A>C p.K1370T Missense 4/12 - 1
10-70406600-G-A c.4114G>A p.E1372K Missense 4/12 - 1
10-70406601-A-T c.4115A>T p.E1372V Missense 4/12 - 1
10-70406605-G-C c.4119G>C p.E1373D Missense 4/12 - 1
10-70406605-G-T c.4119G>T p.E1373D Missense 4/12 - 1
10-70406610-T-C c.4124T>C p.V1375A Missense 4/12 - 3
10-70406613-G-A c.4127G>A p.C1376Y Missense 4/12 - 1
10-70406619-C-T c.4133C>T p.S1378F Missense 4/12 - 1
10-70406620-C-A c.4134C>A p.S1378= Synonymous 4/12 - 1
10-70406620-C-G c.4134C>G p.S1378= Synonymous 4/12 - 1
10-70406620-C-T c.4134C>T p.S1378= Synonymous 4/12 - 1
10-70406621-A-C c.4135A>C p.S1379R Missense 4/12 - 1
10-70406622-GT-G c.4140del p.F1380Lfs*21 Frameshift 4/12 - 1
10-70406628-G-C c.4142G>C p.G1381A Missense 4/12 - 1
10-70406631-AC-A c.4145del p.T1382Nfs*19 Frameshift 4/12 - 1
10-70406631-C-T c.4145C>T p.T1382I Missense 4/12 - 1
10-70406648-G-A c.4162G>A p.V1388M Missense 4/12 - 1
10-70406651-G-C c.4165G>C p.D1389H Missense 4/12 - 1
10-70406652-A-G c.4166A>G p.D1389G Missense 4/12 - 2
10-70406651-GACAGTGC-G c.4170_4176del p.S1390Rfs*9 Frameshift 4/12 - 1
10-70406658-C-G c.4172C>G p.A1391G Missense 4/12 - 1
10-70406661-A-G c.4175A>G p.Q1392R Missense 4/12 - 1
10-70406667-A-C c.4181A>C p.N1394T Missense 4/12 - 1
10-70406668-T-A c.4182T>A p.N1394K Missense 4/12 - 2
10-70406668-T-G c.4182T>G p.N1394K Missense 4/12 - 2
10-70406669-T-C c.4183T>C p.F1395L Missense 4/12 - 4
10-70406671-T-G c.4185T>G p.F1395L Missense 4/12 - 4
10-70406671-T-A c.4185T>A p.F1395L Missense 4/12 - 5
10-70406673-A-AT c.4188dup p.D1397* Nonsense 4/12 - 1
10-70406675-G-C c.4189G>C p.D1397H Missense 4/12 - 2
10-70406675-G-T c.4189G>T p.D1397Y Missense 4/12 - 2
10-70406680-T-C c.4194T>C p.Y1398= Synonymous 4/12 - 1
10-70406682-C-T c.4196C>T p.A1399V Missense 4/12 - 1
10-70406688-A-T c.4202A>T p.N1401I Missense 4/12 - 1
10-70406689-C-A c.4203C>A p.N1401K Missense 4/12 - 1
10-70406689-C-G c.4203C>G p.N1401K Missense 4/12 - 1
10-70406690-T-C c.4204T>C p.F1402L Missense 4/12 - 2
10-70406690-T-G c.4204T>G p.F1402V Missense 4/12 - 1
10-70406692-C-A c.4206C>A p.F1402L Missense 4/12 - 2
10-70406692-C-G c.4206C>G p.F1402L Missense 4/12 - 2
10-70406692-C-T c.4206C>T p.F1402= Synonymous 4/12 - 2
10-70406701-C-T c.4215C>T p.N1405= Synonymous 4/12 - 1
10-70406703-C-A c.4217C>A p.P1406H Missense 4/12 - 1
10-70406705-A-G c.4219A>G p.T1407A Missense 4/12 - 4
10-70406706-CA-C c.4226del p.N1409Tfs*2 Frameshift 4/12 - 3
10-70406712-A-G c.4226A>G p.N1409S Missense 4/12 - 1
10-70406713-C-T c.4227C>T p.N1409= Synonymous 4/12 - 1
10-70406720-TC-CT c.4234_4235delinsCT p.S1412L Missense 4/12 - 1
10-70406720-T-G c.4234T>G p.S1412A Missense 4/12 - 1
10-70406721-C-A c.4235C>A p.S1412Y Missense 4/12 - 2
10-70406721-C-T c.4235C>T p.S1412F Missense 4/12 - 1
10-70406724-T-A c.4238T>A p.I1413K Missense 4/12 - 1
10-70406724-T-C c.4238T>C p.I1413T Missense 4/12 - 1
10-70406731-A-C c.4245A>C p.K1415N Missense 4/12 - 1
10-70406731-A-T c.4245A>T p.K1415N Missense 4/12 - 1
10-70406740-A-G c.4254A>G p.E1418= Synonymous 4/12 - 4
10-70406747-A-G c.4261A>G p.T1421A Missense 4/12 - 9
10-70406752-C-A c.4266C>A p.C1422* Nonsense 4/12 - 1
10-70406759-C-T c.4273C>T p.L1425F Missense 4/12 - 2
10-70406759-C-CT c.4275dup p.D1426* SpliceDonorInsertion 4/12 - 1
10-70406761-T-TA c.4275_4276insA p.D1426Rfs*31 SpliceDonorInsertion 4/12 - 1
10-70406761-T-TC c.4275_4276insC p.D1426Rfs*31 SpliceDonorInsertion 4/12 - 1
10-70406856-T-G c.4276+94T>G - IntronicSNV - 4/11 1
10-70406855-AT-A c.4276+99del - IntronicDeletion - 4/11 1
10-70406864-C-T c.4276+102C>T - IntronicSNV - 4/11 3
10-70406949-A-C c.4276+187A>C - IntronicSNV - 4/11 2
10-70407725-T-C c.4276+963T>C - IntronicSNV - 4/11 1
10-70410630-C-A c.4277-973C>A - IntronicSNV - 4/11 1
10-70410630-C-T c.4277-973C>T - IntronicSNV - 4/11 1
10-70411536-G-A c.4277-67G>A - IntronicSNV - 4/11 5
10-70411605-C-A c.4279C>A p.R1427= Synonymous 5/12 - 3
10-70411605-C-T c.4279C>T p.R1427* Nonsense 5/12 - 3
10-70411607-A-C c.4281A>C p.R1427= Synonymous 5/12 - 1
10-70411607-A-G c.4281A>G p.R1427= Synonymous 5/12 - 1
10-70411607-A-T c.4281A>T p.R1427= Synonymous 5/12 - 1
10-70411606-G-T c.4280G>T p.R1427L Missense 5/12 - 3
10-70411612-T-C c.4286T>C p.I1429T Missense 5/12 - 5
10-70411628-C-T c.4302C>T p.G1434= Synonymous 5/12 - 1
10-70411629-CCA-TGT c.4303_4305delinsTGT p.P1435C Missense 5/12 - 1
10-70411639-C-T c.4313C>T p.T1438I Missense 5/12 - 7
10-70411641-C-T c.4315C>T p.H1439Y Missense 5/12 - 2
10-70411642-A-C c.4316A>C p.H1439P Missense 5/12 - 1
10-70411644-C-A c.4318C>A p.L1440I Missense 5/12 - 1
10-70411644-C-T c.4318C>T p.L1440F Missense 5/12 - 6
10-70411647-GGG-AGC c.4321_4323delinsAGC p.G1441S Missense 5/12 - 1
10-70411648-GG-AC c.4322_4323delinsAC p.G1441D Missense 5/12 - 1
10-70411648-G-T c.4322G>T p.G1441V Missense 5/12 - 3
10-70411649-G-A c.4323G>A p.G1441= Synonymous 5/12 - 1
10-70411651-C-T c.4325C>T p.A1442V Missense 5/12 - 3
10-70411655-A-C c.4329A>C p.G1443= Synonymous 5/12 - 1
10-70411655-A-G c.4329A>G p.G1443= Synonymous 5/12 - 1
10-70411655-A-T c.4329A>T p.G1443= Synonymous 5/12 - 1
10-70411660-G-A c.4334G>A p.S1445N Missense 5/12 - 2
10-70411662-G-T c.4336G>T p.V1446F Missense 5/12 - 1
10-70411666-C-T c.4340C>T p.A1447V Missense 5/12 - 2
10-70411668-G-A c.4342G>A p.A1448T Missense 5/12 - 1
10-70411668-G-T c.4342G>T p.A1448S Missense 5/12 - 1
10-70411669-C-A c.4343C>A p.A1448D Missense 5/12 - 1
10-70411669-C-T c.4343C>T p.A1448V Missense 5/12 - 7
10-70411670-TGTCAGGGAAATCATGGAGAATAGGTGAGGAAATAC-T c.4346_4367+13del - SpliceDonorDeletion 5/12 5/11 1
10-70411673-C-A c.4347C>A p.V1449= Synonymous 5/12 - 2
10-70411673-C-G c.4347C>G p.V1449= Synonymous 5/12 - 2
10-70411673-C-T c.4347C>T p.V1449= Synonymous 5/12 - 3
10-70411688-G-C c.4362G>C p.E1454D Missense 5/12 - 2
10-70411688-G-T c.4362G>T p.E1454D Missense 5/12 - 2
10-70411690-A-G c.4364A>G p.N1455S Missense 5/12 - 1
10-70412259-T-C c.4369T>C p.Y1457H Missense 6/12 - 1
10-70412263-G-A c.4373G>A p.G1458D Missense 6/12 - 1
10-70412268-A-G c.4378A>G p.K1460E Missense 6/12 - 1
10-70412276-C-A c.4386C>A p.N1462K Missense 6/12 - 1
10-70412276-C-G c.4386C>G p.N1462K Missense 6/12 - 1
10-70412277-G-A c.4387G>A p.A1463T Missense 6/12 - 3
10-70412277-G-T c.4387G>T p.A1463S Missense 6/12 - 1
10-70412286-A-C c.4396A>C p.I1466L Missense 6/12 - 1
10-70412286-A-G c.4396A>G p.I1466V Missense 6/12 - 1
10-70412289-G-A c.4399G>A p.E1467K Missense 6/12 - 4
10-70412301-T-A c.4411T>A p.Y1471N Missense 6/12 - 1
10-70412302-A-G c.4412A>G p.Y1471C Missense 6/12 - 2
10-70412304-A-T c.4414A>T p.T1472S Missense 6/12 - 1
10-70412305-C-G c.4415C>G p.T1472S Missense 6/12 - 2
10-70412306-C-A c.4416C>A p.T1472= Synonymous 6/12 - 1
10-70412306-C-G c.4416C>G p.T1472= Synonymous 6/12 - 1
10-70412306-C-T c.4416C>T p.T1472= Synonymous 6/12 - 2
10-70412307-G-A c.4417G>A p.G1473S Missense 6/12 - 4
10-70412308-G-A c.4418G>A p.G1473D Missense 6/12 - 1
10-70412313-G-C c.4423G>C p.E1475Q Missense 6/12 - 1
10-70412321-A-G c.4431A>G p.K1477= Synonymous 6/12 - 1
10-70412328-C-T c.4438C>T p.H1480Y Missense 6/12 - 1
10-70412331-G-A c.4441G>A p.G1481R Missense 6/12 - 1
10-70412335-G-A c.4445G>A p.C1482Y Missense 6/12 - 1
10-70412337-C-G c.4447C>G p.P1483A Missense 6/12 - 2
10-70412345-T-G c.4455T>G p.A1485= Synonymous 6/12 - 1
10-70412352-G-A c.4461+1G>A - IntronicSNV - 6/11 1
10-70416934-T-A c.4461+4583T>A - IntronicSNV - 6/11 1
10-70419989-A-T c.4462-6813A>T - IntronicSNV - 6/11 1
10-70420954-T-A c.4462-5848T>A - IntronicSNV - 6/11 1
10-70421591-A-C c.4462-5211A>C - IntronicSNV - 6/11 1
10-70425119-G-A c.4462-1683G>A - IntronicSNV - 6/11 1
10-70426804-T-A c.4464T>A p.V1488= Synonymous 7/12 - 2
10-70426804-T-C c.4464T>C p.V1488= Synonymous 7/12 - 2
10-70426804-T-G c.4464T>G p.V1488= Synonymous 7/12 - 3
10-70426811-AGA-CAT c.4471_4473delinsCAT p.R1491H Missense 7/12 - 1
10-70426812-G-A c.4472G>A p.R1491K Missense 7/12 - 1
10-70426814-A-G c.4474A>G p.S1492G Missense 7/12 - 1
10-70426816-C-T c.4476C>T p.S1492= Synonymous 7/12 - 1
10-70426817-A-G c.4477A>G p.S1493G Missense 7/12 - 1
10-70426825-A-G c.4485A>G p.E1495= Synonymous 7/12 - 1
10-70426831-A-G c.4491A>G p.K1497= Synonymous 7/12 - 1
10-70426835-C-A c.4495C>A p.L1499I Missense 7/12 - 3
10-70426837-T-A c.4497T>A p.L1499= Synonymous 7/12 - 1
10-70426837-T-C c.4497T>C p.L1499= Synonymous 7/12 - 1
10-70426837-T-G c.4497T>G p.L1499= Synonymous 7/12 - 1
10-70426846-C-A c.4506C>A p.V1502= Synonymous 7/12 - 1
10-70426846-C-G c.4506C>G p.V1502= Synonymous 7/12 - 1
10-70426846-C-T c.4506C>T p.V1502= Synonymous 7/12 - 2
10-70426847-C-T c.4507C>T p.R1503W Missense 7/12 - 1
10-70426852-G-C c.4512G>C p.Q1504H Missense 7/12 - 1
10-70426853-C-T c.4513C>T p.R1505C Missense 7/12 - 6
10-70426854-G-A c.4514G>A p.R1505H Missense 7/12 - 4
10-70426857-C-A c.4517C>A p.T1506K Missense 7/12 - 1
10-70426857-CA-TG c.4517_4518inv p.T1506M Missense 7/12 - 1
10-70426857-C-T c.4517C>T p.T1506I Missense 7/12 - 2
10-70426860-G-A c.4520G>A p.G1507D Missense 7/12 - 2
10-70426872-C-A c.4532C>A p.P1511Q Missense 7/12 - 1
10-70426873-A-G c.4533A>G p.P1511= Synonymous 7/12 - 1
10-70426874-A-T c.4534A>T p.T1512S Missense 7/12 - 1
10-70426875-C-G c.4535C>G p.T1512S Missense 7/12 - 1
10-70426878-C-A c.4538C>A p.A1513D Missense 7/12 - 1
10-70426880-G-A c.4540G>A p.V1514M Missense 7/12 - 1
10-70426886-GTG-ATC c.4546_4548delinsATC p.V1516I Missense 7/12 - 1
10-70426889-G-A c.4549G>A p.V1517M Missense 7/12 - 1
10-70426906-G-C c.4566G>C p.W1522C Missense 7/12 - 1
10-70426906-G-GT c.4566_4567insT p.D1523* Nonsense 7/12 - 1
10-70426906-G-T c.4566G>T p.W1522C Missense 7/12 - 2
10-70426908-GAT-G c.4568_4569del p.D1523Gfs*34 Frameshift 7/12 - 1
10-70426911-G-A c.4571G>A p.G1524D Missense 7/12 - 1
10-70426913-A-G c.4573A>G p.I1525V Missense 7/12 - 2
10-70426915-C-T c.4575C>T p.I1525= Synonymous 7/12 - 2
10-70426916-C-T c.4576C>T p.P1526S Missense 7/12 - 1
10-70426919-C-G c.4579C>G p.L1527V Missense 7/12 - 1
10-70426920-T-C c.4580T>C p.L1527P Missense 7/12 - 1
10-70426922-C-G c.4582C>G p.P1528A Missense 7/12 - 2
10-70426928-G-A c.4588G>A p.A1530T Missense 7/12 - 1
10-70426929-C-T c.4589C>T p.A1530V Missense 7/12 - 1
10-70426931-G-A c.4591G>A p.D1531N Missense 7/12 - 1
10-70426934-C-A c.4594C>A p.R1532= Synonymous 7/12 - 1
10-70426934-C-T c.4594C>T p.R1532W Missense 7/12 - 4
10-70426936-G-A c.4596G>A p.R1532= Synonymous 7/12 - 1
10-70426936-G-C c.4596G>C p.R1532= Synonymous 7/12 - 1
10-70426936-G-T c.4596G>T p.R1532= Synonymous 7/12 - 1
10-70426935-G-A c.4595G>A p.R1532Q Missense 7/12 - 3
10-70426952-A-C c.4612A>C p.T1538P Missense 7/12 - 2
10-70426953-C-T c.4613C>T p.T1538I Missense 7/12 - 1
10-70426957-G-T c.4617G>T p.E1539D Missense 7/12 - 1
10-70426964-A-C c.4624A>C p.K1542Q Missense 7/12 - 1
10-70426971-A-T c.4631A>T p.Y1544F Missense 7/12 - 1
10-70426974-A-G c.4634A>G p.N1545S Missense 7/12 - 2
10-70426979-C-T c.4639C>T p.H1547Y Missense 7/12 - 1
10-70426982-C-G c.4642C>G p.P1548A Missense 7/12 - 1
10-70426983-C-T c.4643C>T p.P1548L Missense 7/12 - 1
10-70426987-C-A c.4647C>A p.T1549= Synonymous 7/12 - 2
10-70426987-C-G c.4647C>G p.T1549= Synonymous 7/12 - 2
10-70426987-C-T c.4647C>T p.T1549= Synonymous 7/12 - 3
10-70426988-G-T c.4648G>T p.D1550Y Missense 7/12 - 1
10-70427003-C-A c.4663C>A p.L1555I Missense 7/12 - 1
10-70427005-C-T c.4665C>T p.L1555= Synonymous 7/12 - 1
10-70427009-G-A c.4669G>A p.E1557K Missense 7/12 - 1
10-70427014-G-A c.4673+1G>A - IntronicSNV - 7/11 1
10-70431420-G-T c.4674-1232G>T - IntronicSNV - 7/11 2
10-70432644-T-C c.4674-8T>C - IntronicSNV - 7/11 2
10-70432653-C-A c.4675C>A p.R1559S Missense 8/12 - 1
10-70432653-C-T c.4675C>T p.R1559C Missense 8/12 - 2
10-70432654-G-A c.4676G>A p.R1559H Missense 8/12 - 2
10-70432654-G-C c.4676G>C p.R1559P Missense 8/12 - 2
10-70432659-T-C c.4681T>C p.C1561R Missense 8/12 - 1
10-70432668-C-G c.4690C>G p.Q1564E Missense 8/12 - 1
10-70432668-C-T c.4690C>T p.Q1564* Nonsense 8/12 - 2
10-70432671-G-T c.4693G>T p.G1565* Nonsense 8/12 - 1
10-70432672-G-C c.4694G>C p.G1565A Missense 8/12 - 1
10-70432676-T-A c.4698T>A p.I1566= Synonymous 8/12 - 1
10-70432676-T-C c.4698T>C p.I1566= Synonymous 8/12 - 2
10-70432677-G-T c.4699G>T p.D1567Y Missense 8/12 - 1
10-70432682-A-G c.4704A>G p.P1568= Synonymous 8/12 - 1
10-70432683-G-C c.4705G>C p.E1569Q Missense 8/12 - 1
10-70432684-A-G c.4706A>G p.E1569G Missense 8/12 - 1
10-70432686-A-T c.4708A>T p.T1570S Missense 8/12 - 1
10-70432687-C-G c.4709C>G p.T1570S Missense 8/12 - 1
10-70432693-G-C c.4715G>C p.G1572A Missense 8/12 - 1
10-70432699-C-T c.4721C>T p.S1574L Missense 8/12 - 1
10-70432703-C-A c.4725C>A p.F1575L Missense 8/12 - 1
10-70432703-C-T c.4725C>T p.F1575= Synonymous 8/12 - 1
10-70432714-G-A c.4736G>A p.C1579Y Missense 8/12 - 2
10-70432720-G-A c.4742G>A p.W1581* Nonsense 8/12 - 3
10-70432721-G-A c.4743G>A p.W1581* Nonsense 8/12 - 1
10-70432722-A-T c.4744A>T p.S1582C Missense 8/12 - 1
10-70432741-G-A c.4763G>A p.C1588Y Missense 8/12 - 1
10-70432744-A-C c.4766A>C p.K1589T Missense 8/12 - 1
10-70432744-A-T c.4766A>T p.K1589M Missense 8/12 - 1
10-70432753-G-A c.4775G>A p.R1592K Missense 8/12 - 2
10-70432753-G-T c.4775G>T p.R1592I Missense 8/12 - 2
10-70432756-G-A c.4778G>A p.S1593N Missense 8/12 - 2
10-70432758-C-T c.4780C>T p.P1594S Missense 8/12 - 3
10-70432762-G-A c.4784G>A p.S1595N Missense 8/12 - 2
10-70432764-C-T c.4786C>T p.P1596S Missense 8/12 - 2
10-70432765-C-T c.4787C>T p.P1596L Missense 8/12 - 1
10-70432768-G-T c.4790G>T p.R1597I Missense 8/12 - 1
10-70432770-A-T c.4792A>T p.R1598* Nonsense 8/12 - 1
10-70432771-G-T c.4793G>T p.R1598I Missense 8/12 - 1
10-70432774-T-G c.4796T>G p.F1599C Missense 8/12 - 1
10-70432777-G-C c.4799G>C p.R1600T Missense 8/12 - 1
10-70432785-C-T c.4807C>T p.P1603S Missense 8/12 - 5
10-70432789-G-A c.4811G>A p.S1604N Missense 8/12 - 1
10-70432792-C-T c.4814C>T p.S1605F Missense 8/12 - 1
10-70432794-CC-TT c.4816_4817delinsTT p.P1606F Missense 8/12 - 1
10-70432795-C-A c.4817C>A p.P1606H Missense 8/12 - 2
10-70432795-C-T c.4817C>T p.P1606L Missense 8/12 - 1
10-70432796-C-A c.4818C>A p.P1606= Synonymous 8/12 - 3
10-70432796-C-G c.4818C>G p.P1606= Synonymous 8/12 - 2
10-70432796-C-T c.4818C>T p.P1606= Synonymous 8/12 - 2
10-70432800-C-T c.4822C>T p.H1608Y Missense 8/12 - 1
10-70432801-A-AT c.4824dup p.E1609* SpliceDonorInsertion - - 1
10-70433184-A-T c.4824+382A>T - IntronicSNV - 8/11 1
10-70433329-G-T c.4824+527G>T - IntronicSNV - 8/11 1
10-70433350-A-T c.4824+548A>T - IntronicSNV - 8/11 1
10-70433354-C-G c.4824+552C>G - IntronicSNV - 8/11 1
10-70433365-A-T c.4824+563A>T - IntronicSNV - 8/11 1
10-70433369-A-T c.4824+567A>T - IntronicSNV - 8/11 1
10-70433375-A-T c.4824+573A>T - IntronicSNV - 8/11 1
10-70433711-C-T c.4824+909C>T - IntronicSNV - 8/11 1
10-70434677-C-T c.4824+1875C>T - IntronicSNV - 8/11 2
10-70438623-G-A c.4825-2533G>A - IntronicSNV - 8/11 1
10-70441154-A-AG c.4825dup p.E1609Gfs*5 SpliceAcceptorInsertion 9/12 - 1
10-70441156-G-T c.4825G>T p.E1609* Nonsense 9/12 - 1
10-70441157-A-G c.4826A>G p.E1609G Missense 9/12 - 1
10-70441158-A-C c.4827A>C p.E1609D Missense 9/12 - 1
10-70441158-A-T c.4827A>T p.E1609D Missense 9/12 - 1
10-70441160-A-G c.4829A>G p.K1610R Missense 9/12 - 1
10-70441156-GA-G c.4832del p.N1611Tfs*13 Frameshift 9/12 - 5
10-70441156-G-GA c.4832dup p.N1611Kfs*3 SpliceAcceptorInsertion 9/12 - 1
10-70441163-A-C c.4832A>C p.N1611T Missense 9/12 - 2
10-70441163-A-G c.4832A>G p.N1611S Missense 9/12 - 1
10-70441171-G-A c.4840G>A p.D1614N Missense 9/12 - 1
10-70441174-A-C c.4843A>C p.N1615H Missense 9/12 - 1
10-70441174-A-T c.4843A>T p.N1615Y Missense 9/12 - 1
10-70441177-T-G c.4846T>G p.L1616V Missense 9/12 - 1
10-70441195-C-T c.4864C>T p.R1622* Nonsense 9/12 - 3
10-70441196-G-A c.4865G>A p.R1622Q Missense 9/12 - 2
10-70441204-C-T c.4873C>T p.P1625S Missense 9/12 - 1
10-70441220-A-G c.4889A>G p.Y1630C Missense 9/12 - 1
10-70441223-C-T c.4892C>T p.A1631V Missense 9/12 - 1
10-70441225-C-T c.4894C>T p.P1632S Missense 9/12 - 6
10-70441228-G-A c.4897G>A p.V1633I Missense 9/12 - 1
10-70441231-G-A c.4900G>A p.A1634T Missense 9/12 - 1
10-70441233-T-C c.4902T>C p.A1634= Synonymous 9/12 - 4
10-70441232-CT-C c.4903del p.Y1635Tfs*44 Frameshift 9/12 - 1
10-70441237-C-A c.4906C>A p.Q1636K Missense 9/12 - 5
10-70441243-C-G c.4912C>G p.Q1638E Missense 9/12 - 1
10-70441243-C-T c.4912C>T p.Q1638* Nonsense 9/12 - 3
10-70441244-A-C c.4913A>C p.Q1638P Missense 9/12 - 3
10-70441244-A-G c.4913A>G p.Q1638R Missense 9/12 - 1
10-70441245-G-C c.4914G>C p.Q1638H Missense 9/12 - 3
10-70441245-G-T c.4914G>T p.Q1638H Missense 9/12 - 3
10-70441247-T-G c.4914+2T>G - IntronicSNV - 9/11 2
10-70442598-A-C c.4920A>C p.E1640D Missense 10/12 - 1
10-70442598-A-T c.4920A>T p.E1640D Missense 10/12 - 1
10-70442602-G-C c.4924G>C p.E1642Q Missense 10/12 - 1
10-70442604-A-G c.4926A>G p.E1642= Synonymous 10/12 - 1
10-70442605-A-G c.4927A>G p.N1643D Missense 10/12 - 1
10-70442612-C-T c.4934C>T p.A1645V Missense 10/12 - 1
10-70442614-C-T c.4936C>T p.R1646* Nonsense 10/12 - 3
10-70442615-G-A c.4937G>A p.R1646Q Missense 10/12 - 1
10-70442623-C-T c.4945C>T p.R1649W Missense 10/12 - 2
10-70442624-G-A c.4946G>A p.R1649Q Missense 10/12 - 1
10-70442625-G-A c.4947G>A p.R1649= Synonymous 10/12 - 1
10-70442634-C-T c.4956C>T p.S1652= Synonymous 10/12 - 1
10-70442637-G-A c.4959G>A p.K1653= Synonymous 10/12 - 1
10-70442643-T-C c.4965T>C p.G1655= Synonymous 10/12 - 1
10-70442644-C-T c.4966C>T p.R1656C Missense 10/12 - 2
10-70442645-G-A c.4967G>A p.R1656H Missense 10/12 - 2
10-70442648-C-T c.4970C>T p.P1657L Missense 10/12 - 1
10-70442651-T-G c.4973T>G p.F1658C Missense 10/12 - 1
10-70442654-C-G c.4976C>G p.S1659C Missense 10/12 - 1
10-70442656-GG-AA c.4978_4979delinsAA p.G1660K Missense 10/12 - 1
10-70442659-G-C c.4981G>C p.V1661L Missense 10/12 - 1
10-70442661-C-A c.4983C>A p.V1661= Synonymous 10/12 - 1
10-70442661-C-G c.4983C>G p.V1661= Synonymous 10/12 - 1
10-70442661-C-T c.4983C>T p.V1661= Synonymous 10/12 - 1
10-70442663-C-T c.4985C>T p.T1662I Missense 10/12 - 1
10-70442666-C-A c.4988C>A p.A1663D Missense 10/12 - 1
10-70442676-C-T c.4998C>T p.D1666= Synonymous 10/12 - 1
10-70442684-C-T c.5006C>T p.A1669V Missense 10/12 - 1
10-70442691-C-T c.5013C>T p.P1671= Synonymous 10/12 - 2
10-70442692-CA-GC c.5014_5015delinsGC p.H1672A Missense 10/12 - 1
10-70442692-C-T c.5014C>T p.H1672Y Missense 10/12 - 11
10-70442695-AG-CC c.5017_5018delinsCC p.R1673P Missense 10/12 - 1
10-70442699-A-C c.5021A>C p.D1674A Missense 10/12 - 8
10-70442704-C-T c.5026C>T p.H1676Y Missense 10/12 - 1
10-70442719-G-A c.5041G>A p.G1681R Missense 10/12 - 5
10-70442719-G-C c.5041G>C p.G1681R Missense 10/12 - 1
10-70442720-G-A c.5042G>A p.G1681E Missense 10/12 - 1
10-70442721-A-G c.5043A>G p.G1681= Synonymous 10/12 - 1
10-70442723-G-A c.5045G>A p.S1682N Missense 10/12 - 1
10-70442723-G-T c.5045G>T p.S1682I Missense 10/12 - 1
10-70442722-A-C c.5044A>C p.S1682R Missense 10/12 - 1
10-70442724-C-A c.5046C>A p.S1682R Missense 10/12 - 1
10-70442724-C-G c.5046C>G p.S1682R Missense 10/12 - 1
10-70442725-A-T c.5047A>T p.T1683S Missense 10/12 - 1
10-70442726-C-G c.5048C>G p.T1683S Missense 10/12 - 1
10-70442868-GA-G c.5052+146del - IntronicDeletion - 10/11 1
10-70442876-A-G c.5052+146A>G - IntronicSNV - 10/11 1
10-70442877-G-A c.5052+147G>A - IntronicSNV - 10/11 1
10-70444094-C-T c.5052+1364C>T - IntronicSNV - 10/11 1
10-70444319-T-C c.5052+1589T>C - IntronicSNV - 10/11 1
10-70446114-T-G c.5054T>G p.V1685G Missense 11/12 - 1
10-70446113-GT-G c.5056del p.C1686Vfs*3 Frameshift 11/12 - 1
10-70446116-TG-AC c.5056_5057delinsAC p.C1686T Missense 11/12 - 1
10-70446123-T-C c.5063T>C p.L1688S Missense 11/12 - 1
10-70446125-A-G c.5065A>G p.T1689A Missense 11/12 - 1
10-70446129-G-A c.5069G>A p.R1690Q Missense 11/12 - 1
10-70446140-C-T c.5080C>T p.R1694C Missense 11/12 - 4
10-70446141-G-A c.5081G>A p.R1694H Missense 11/12 - 3
10-70446150-G-A c.5090G>A p.G1697D Missense 11/12 - 1
10-70446152-G-A c.5092G>A p.V1698I Missense 11/12 - 8
10-70446152-G-T c.5092G>T p.V1698F Missense 11/12 - 2
10-70446156-T-C c.5096T>C p.I1699T Missense 11/12 - 1
10-70446158-C-T c.5098C>T p.P1700S Missense 11/12 - 2
10-70446167-G-A c.5107G>A p.E1703K Missense 11/12 - 4
10-70446169-G-T c.5109G>T p.E1703D Missense 11/12 - 2
10-70446170-C-T c.5110C>T p.Q1704* Nonsense 11/12 - 2
10-70446173-C-A c.5113C>A p.L1705I Missense 11/12 - 1
10-70446175-C-T c.5115C>T p.L1705= Synonymous 11/12 - 4
10-70446176-C-A c.5116C>A p.H1706N Missense 11/12 - 1
10-70446176-C-T c.5116C>T p.H1706Y Missense 11/12 - 1
10-70446178-T-A c.5118T>A p.H1706Q Missense 11/12 - 8
10-70446178-T-G c.5118T>G p.H1706Q Missense 11/12 - 3
10-70446185-C-G c.5125C>G p.P1709A Missense 11/12 - 1
10-70446186-C-A c.5126C>A p.P1709H Missense 11/12 - 3
10-70446188-C-A c.5128C>A p.L1710I Missense 11/12 - 1
10-70446192-A-G c.5132A>G p.Y1711C Missense 11/12 - 3
10-70446203-G-A c.5143G>A p.D1715N Missense 11/12 - 1
10-70446203-G-T c.5143G>T p.D1715Y Missense 11/12 - 1
10-70446205-C-T c.5145C>T p.D1715= Synonymous 11/12 - 1
10-70446209-G-A c.5149G>A p.D1717N Missense 11/12 - 1
10-70446212-G-A c.5152G>A p.E1718K Missense 11/12 - 1
10-70446214-G-T c.5154G>T p.E1718D Missense 11/12 - 1
10-70446218-G-A c.5158G>A p.G1720S Missense 11/12 - 1
10-70446219-G-C c.5159G>C p.G1720A Missense 11/12 - 1
10-70446220-C-A c.5160C>A p.G1720= Synonymous 11/12 - 1
10-70446220-C-G c.5160C>G p.G1720= Synonymous 11/12 - 1
10-70446220-C-T c.5160C>T p.G1720= Synonymous 11/12 - 1
10-70446222-C-T c.5162C>T p.S1721F Missense 11/12 - 1
10-70446223-C-T c.5163C>T p.S1721= Synonymous 11/12 - 2
10-70446224-A-G c.5164A>G p.K1722E Missense 11/12 - 1
10-70446225-A-G c.5165A>G p.K1722R Missense 11/12 - 1
10-70446226-G-A c.5166G>A p.K1722= Synonymous 11/12 - 1
10-70446226-G-C c.5166G>C p.K1722N Missense 11/12 - 1
10-70446226-G-T c.5166G>T p.K1722N Missense 11/12 - 2
10-70446227-G-A c.5167G>A p.E1723K Missense 11/12 - 2
10-70446227-G-GA c.5169dup p.G1724Rfs*46 Frameshift 11/12 - 2
10-70446230-G-A c.5170G>A p.G1724R Missense 11/12 - 7
10-70446230-G-C c.5170G>C p.G1724R Missense 11/12 - 2
10-70446235-G-A c.5175G>A p.M1725I Missense 11/12 - 1
10-70446235-G-C c.5175G>C p.M1725I Missense 11/12 - 1
10-70446235-G-T c.5175G>T p.M1725I Missense 11/12 - 1
10-70446250-A-G c.5190A>G p.K1730= Synonymous 11/12 - 1
10-70446252-C-A c.5192C>A p.S1731Y Missense 11/12 - 1
10-70446259-C-T c.5199C>T p.A1733= Synonymous 11/12 - 1
10-70446262-C-A c.5202C>A p.I1734= Synonymous 11/12 - 1
10-70446262-C-T c.5202C>T p.I1734= Synonymous 11/12 - 1
10-70446263-G-A c.5203G>A p.E1735K Missense 11/12 - 2
10-70446267-T-C c.5207T>C p.V1736A Missense 11/12 - 1
10-70446267-TC-AG c.5207_5208delinsAG p.V1736E Missense 11/12 - 1
10-70446268-C-A c.5208C>A p.V1736= Synonymous 11/12 - 1
10-70446268-C-G c.5208C>G p.V1736= Synonymous 11/12 - 1
10-70446268-C-T c.5208C>T p.V1736= Synonymous 11/12 - 2
10-70446272-G-T c.5212G>T p.A1738S Missense 11/12 - 1
10-70446274-A-C c.5214A>C p.A1738= Synonymous 11/12 - 1
10-70446276-C-A c.5216C>A p.P1739H Missense 11/12 - 1
10-70446278-C-T c.5218C>T p.R1740C Missense 11/12 - 2
10-70446279-G-A c.5219G>A p.R1740H Missense 11/12 - 2
10-70446274-ACCCCGCCGCAAAAAAAGAACGTGTTTCACTCAGCCTGTT-A c.5220_5258del p.R1741_R1753del InFrameDeletion 11/12 - 1
10-70446282-G-A c.5222G>A p.R1741H Missense 11/12 - 11
10-70446282-G-C c.5222G>C p.R1741P Missense 11/12 - 1
10-70446282-G-T c.5222G>T p.R1741L Missense 11/12 - 1
10-70446285-A-G c.5225A>G p.K1742R Missense 11/12 - 1
10-70446283-C-CA c.5230dup p.R1744Kfs*26 Frameshift 11/12 - 2
10-70446291-G-A c.5231G>A p.R1744K Missense 11/12 - 1
10-70446291-G-C c.5231G>C p.R1744T Missense 11/12 - 4
10-70446291-G-T c.5231G>T p.R1744I Missense 11/12 - 1
10-70446294-C-T c.5234C>T p.T1745M Missense 11/12 - 3
10-70446301-C-A c.5241C>A p.F1747L Missense 11/12 - 1
10-70446307-AG-A c.5247del p.Q1749Hfs*13 Frameshift 11/12 - 1
10-70446309-C-G c.5249C>G p.P1750R Missense 11/12 - 1
10-70446311-G-A c.5251G>A p.V1751I Missense 11/12 - 1
10-70446314-C-G c.5254C>G p.P1752A Missense 11/12 - 1
10-70446314-C-T c.5254C>T p.P1752S Missense 11/12 - 3
10-70446315-C-A c.5255C>A p.P1752H Missense 11/12 - 1
10-70446316-C-T c.5256C>T p.P1752= Synonymous 11/12 - 9
10-70446317-C-T c.5257C>T p.R1753C Missense 11/12 - 5
10-70446318-G-A c.5258G>A p.R1753H Missense 11/12 - 4
10-70446324-G-C c.5264G>C p.G1755A Missense 11/12 - 1
10-70446325-A-C c.5265A>C p.G1755= Synonymous 11/12 - 1
10-70446325-A-G c.5265A>G p.G1755= Synonymous 11/12 - 1
10-70446325-A-T c.5265A>T p.G1755= Synonymous 11/12 - 1
10-70446328-G-C c.5268G>C p.K1756N Missense 11/12 - 1
10-70446328-G-T c.5268G>T p.K1756N Missense 11/12 - 1
10-70446338-G-A c.5278G>A p.A1760T Missense 11/12 - 4
10-70446338-TGCG-T c.5278_5280del p.A1760del InFrameDeletion 11/12 - 1
10-70446339-C-T c.5279C>T p.A1760V Missense 11/12 - 1
10-70446340-G-A c.5280G>A p.A1760= Synonymous 11/12 - 2
10-70446340-G-C c.5280G>C p.A1760= Synonymous 11/12 - 1
10-70446340-G-T c.5280G>T p.A1760= Synonymous 11/12 - 1
10-70446343-G-A c.5283G>A p.M1761I Missense 11/12 - 1
10-70446346-G-A c.5286G>A p.M1762I Missense 11/12 - 1
10-70446346-G-C c.5286G>C p.M1762I Missense 11/12 - 1
10-70446346-G-T c.5286G>T p.M1762I Missense 11/12 - 1
10-70446350-G-A c.5290G>A p.E1764K Missense 11/12 - 5
10-70446351-A-T c.5291A>T p.E1764V Missense 11/12 - 1
10-70446357-T-C c.5297T>C p.L1766P Missense 11/12 - 2
10-70446359-G-T c.5299G>T p.A1767S Missense 11/12 - 1
10-70446360-C-T c.5300C>T p.A1767V Missense 11/12 - 2
10-70446363-A-G c.5303A>G p.H1768R Missense 11/12 - 5
10-70446372-GGGCAGTGGAAAA-G c.5314_5325del p.A1772_K1775del InFrameDeletion 11/12 - 1
10-70446379-G-A c.5319G>A p.V1773= Synonymous 11/12 - 1
10-70446379-G-T c.5319G>T p.V1773= Synonymous 11/12 - 1
10-70446380-G-A c.5320G>A p.E1774K Missense 11/12 - 1
10-70446380-G-T c.5320G>T p.E1774* Nonsense 11/12 - 1
10-70446385-G-A c.5325G>A p.K1775= Synonymous 11/12 - 1
10-70446386-A-T c.5326A>T p.K1776* Nonsense 11/12 - 4
10-70446389-C-G c.5329C>G p.P1777A Missense 11/12 - 1
10-70446390-C-A c.5330C>A p.P1777H Missense 11/12 - 2
10-70446390-C-T c.5330C>T p.P1777L Missense 11/12 - 1
10-70446392-A-C c.5332A>C p.I1778L Missense 11/12 - 1
10-70446393-T-G c.5333T>G p.I1778S Missense 11/12 - 3
10-70446395-C-T c.5335C>T p.P1779S Missense 11/12 - 6
10-70446398-C-T c.5338C>T p.R1780* Nonsense 11/12 - 1
10-70446399-G-A c.5339G>A p.R1780Q Missense 11/12 - 5
10-70446399-GA-AT c.5339_5340delinsAT p.R1780H Missense 11/12 - 1
10-70446404-A-T c.5344A>T p.K1782* Nonsense 11/12 - 1
10-70446403-CA-C c.5345del p.K1782Sfs*20 Frameshift 11/12 - 1
10-70446407-C-A c.5347C>A p.R1783= Synonymous 11/12 - 1
10-70446407-C-T c.5347C>T p.R1783W Missense 11/12 - 3
10-70446408-G-A c.5348G>A p.R1783Q Missense 11/12 - 3
10-70446408-G-T c.5348G>T p.R1783L Missense 11/12 - 1
10-70446412-G-C c.5352G>C p.K1784N Missense 11/12 - 3
10-70446412-G-T c.5352G>T p.K1784N Missense 11/12 - 4
10-70446417-A-G c.5357A>G p.N1786S Missense 11/12 - 2
10-70446418-C-T c.5358C>T p.N1786= Synonymous 11/12 - 1
10-70446420-C-A c.5360C>A p.S1787* Nonsense 11/12 - 1
10-70446420-C-G c.5360C>G p.S1787* Nonsense 11/12 - 1
10-70446423-C-A c.5363C>A p.T1788K Missense 11/12 - 1
10-70446431-A-T c.5371A>T p.N1791Y Missense 11/12 - 2
10-70446429-CA-C c.5372del p.N1791Tfs*11 Frameshift 11/12 - 1
10-70446432-A-G c.5372A>G p.N1791S Missense 11/12 - 2
10-70446434-A-T c.5374A>T p.N1792Y Missense 11/12 - 1
10-70446436-C-A c.5376C>A p.N1792K Missense 11/12 - 1
10-70446436-C-G c.5376C>G p.N1792K Missense 11/12 - 1
10-70446436-C-T c.5376C>T p.N1792= Synonymous 11/12 - 1
10-70446439-T-C c.5379T>C p.S1793= Synonymous 11/12 - 1
10-70446443-C-T c.5383C>T p.P1795S Missense 11/12 - 2
10-70446444-C-T c.5384C>T p.P1795L Missense 11/12 - 1
10-70446445-T-G c.5385T>G p.P1795= Synonymous 11/12 - 1
10-70446447-C-T c.5387C>T p.S1796L Missense 11/12 - 8
10-70446451-A-C c.5391A>C p.S1797= Synonymous 11/12 - 2
10-70446451-A-G c.5391A>G p.S1797= Synonymous 11/12 - 2
10-70446451-A-T c.5391A>T p.S1797= Synonymous 11/12 - 2
10-70446464-G-A c.5404G>A p.G1802R Missense 11/12 - 1
10-70446464-G-C c.5404G>C p.G1802R Missense 11/12 - 1
10-70446673-C-G c.5404+209C>G - IntronicSNV - 11/11 1
10-70450264-T-C c.5405-301T>C - IntronicSNV - 11/11 1
10-70450272-A-G c.5405-293A>G - IntronicSNV - 11/11 1
10-70450569-GTAAC-G c.5409_5412del p.S1803Rfs*9 Frameshift 12/12 - 1
10-70450569-T-A c.5409T>A p.S1803R Missense 12/12 - 1
10-70450571-A-G c.5411A>G p.N1804S Missense 12/12 - 2
10-70450578-G-A c.5418G>A p.E1806= Synonymous 12/12 - 1
10-70450582-G-A c.5422G>A p.V1808M Missense 12/12 - 9
10-70450589-C-G c.5429C>G p.P1810R Missense 12/12 - 9
10-70450593-A-G c.5433A>G p.E1811= Synonymous 12/12 - 2
10-70450597-A-G c.5437A>G p.K1813E Missense 12/12 - 1
10-70450603-G-A c.5443G>A p.E1815K Missense 12/12 - 1
10-70450603-G-C c.5443G>C p.E1815Q Missense 12/12 - 2
10-70450606-A-T c.5446A>T p.T1816S Missense 12/12 - 2
10-70450607-C-G c.5447C>G p.T1816S Missense 12/12 - 2
10-70450609-G-A c.5449G>A p.E1817K Missense 12/12 - 2
10-70450613-C-T c.5453C>T p.P1818L Missense 12/12 - 1
10-70450615-C-G c.5455C>G p.H1819D Missense 12/12 - 1
10-70450623-C-G c.5463C>G p.I1821M Missense 12/12 - 2
10-70450624-T-A c.5464T>A p.L1822I Missense 12/12 - 1
10-70450630-A-G c.5470A>G p.S1824G Missense 12/12 - 1
10-70450630-AG-TT c.5470_5471delinsTT p.S1824F Missense 12/12 - 1
10-70450631-G-C c.5471G>C p.S1824T Missense 12/12 - 1
10-70450631-G-T c.5471G>T p.S1824I Missense 12/12 - 4
10-70450630-A-C c.5470A>C p.S1824R Missense 12/12 - 1
10-70450632-T-A c.5472T>A p.S1824R Missense 12/12 - 1
10-70450632-T-G c.5472T>G p.S1824R Missense 12/12 - 1
10-70450634-C-A c.5474C>A p.S1825* Nonsense 12/12 - 1
10-70450634-C-G c.5474C>G p.S1825* Nonsense 12/12 - 2
10-70450635-A-C c.5475A>C p.S1825= Synonymous 12/12 - 1
10-70450635-A-G c.5475A>G p.S1825= Synonymous 12/12 - 4
10-70450635-A-T c.5475A>T p.S1825= Synonymous 12/12 - 1
10-70450642-A-T c.5482A>T p.T1828S Missense 12/12 - 1
10-70450643-C-G c.5483C>G p.T1828S Missense 12/12 - 1
10-70450645-A-G c.5485A>G p.K1829E Missense 12/12 - 1
10-70450649-C-T c.5489C>T p.T1830I Missense 12/12 - 4
10-70450650-T-C c.5490T>C p.T1830= Synonymous 12/12 - 1
10-70450650-T-G c.5490T>G p.T1830= Synonymous 12/12 - 2
10-70450655-C-T c.5495C>T p.S1832L Missense 12/12 - 6
10-70450656-G-A c.5496G>A p.S1832= Synonymous 12/12 - 1
10-70450657-C-G c.5497C>G p.L1833V Missense 12/12 - 1
10-70450661-T-A c.5501T>A p.M1834K Missense 12/12 - 1
10-70450663-C-T c.5503C>T p.P1835S Missense 12/12 - 2
10-70450664-C-T c.5504C>T p.P1835L Missense 12/12 - 6
10-70450668-C-A c.5508C>A p.S1836= Synonymous 12/12 - 2
10-70450668-C-G c.5508C>G p.S1836= Synonymous 12/12 - 2
10-70450668-C-T c.5508C>T p.S1836= Synonymous 12/12 - 2
10-70450669-G-A c.5509G>A p.A1837T Missense 12/12 - 4
10-70450669-G-T c.5509G>T p.A1837S Missense 12/12 - 3
10-70450676-A-C c.5516A>C p.H1839P Missense 12/12 - 1
10-70450681-G-A c.5521G>A p.V1841M Missense 12/12 - 1
10-70450683-G-A c.5523G>A p.V1841= Synonymous 12/12 - 1
10-70450683-G-C c.5523G>C p.V1841= Synonymous 12/12 - 1
10-70450683-G-T c.5523G>T p.V1841= Synonymous 12/12 - 1
10-70450687-G-A c.5527G>A p.E1843K Missense 12/12 - 1
10-70450689-G-A c.5529G>A p.E1843= Synonymous 12/12 - 1
10-70450689-G-C c.5529G>C p.E1843D Missense 12/12 - 1
10-70450689-G-T c.5529G>T p.E1843D Missense 12/12 - 1
10-70450691-C-T c.5531C>T p.A1844V Missense 12/12 - 1
10-70450696-C-T c.5536C>T p.P1846S Missense 12/12 - 3
10-70450697-C-T c.5537C>T p.P1846L Missense 12/12 - 6
10-70450700-G-C c.5540G>C p.G1847A Missense 12/12 - 1
10-70450700-G-T c.5540G>T p.G1847V Missense 12/12 - 1
10-70450701-C-A c.5541C>A p.G1847= Synonymous 12/12 - 1
10-70450701-C-G c.5541C>G p.G1847= Synonymous 12/12 - 1
10-70450701-C-T c.5541C>T p.G1847= Synonymous 12/12 - 1
10-70450704-C-T c.5544C>T p.F1848= Synonymous 12/12 - 2
10-70450706-C-T c.5546C>T p.S1849F Missense 12/12 - 3
10-70450713-C-A c.5553C>A p.S1851= Synonymous 12/12 - 1
10-70450713-C-G c.5553C>G p.S1851= Synonymous 12/12 - 1
10-70450713-C-T c.5553C>T p.S1851= Synonymous 12/12 - 2
10-70450714-C-T c.5554C>T p.P1852S Missense 12/12 - 1
10-70450715-C-A c.5555C>A p.P1852Q Missense 12/12 - 1
10-70450715-C-T c.5555C>T p.P1852L Missense 12/12 - 2
10-70450716-G-A c.5556G>A p.P1852= Synonymous 12/12 - 1
10-70450715-C-CGAT c.5557_5558insTGA p.P1852_K1853insM InFrameInsertion 12/12 - 1
10-70450717-A-G c.5557A>G p.K1853E Missense 12/12 - 1
10-70450720-A-G c.5560A>G p.T1854A Missense 12/12 - 2
10-70450722-T-A c.5562T>A p.T1854= Synonymous 12/12 - 2
10-70450722-T-C c.5562T>C p.T1854= Synonymous 12/12 - 2
10-70450722-T-G c.5562T>G p.T1854= Synonymous 12/12 - 2
10-70450727-C-T c.5567C>T p.S1856L Missense 12/12 - 2
10-70450728-A-G c.5568A>G p.S1856= Synonymous 12/12 - 1
10-70450734-A-T c.5574A>T p.T1858= Synonymous 12/12 - 1
10-70450735-C-G c.5575C>G p.P1859A Missense 12/12 - 1
10-70450738-G-C c.5578G>C p.A1860P Missense 12/12 - 4
10-70450742-C-T c.5582C>T p.P1861L Missense 12/12 - 1
10-70450755-C-T c.5595C>T p.D1865= Synonymous 12/12 - 3
10-70450756-G-A c.5596G>A p.A1866T Missense 12/12 - 2
10-70450756-G-T c.5596G>T p.A1866S Missense 12/12 - 2
10-70450757-C-T c.5597C>T p.A1866V Missense 12/12 - 1
10-70450766-C-T c.5606C>T p.S1869L Missense 12/12 - 1
10-70450767-A-C c.5607A>C p.S1869= Synonymous 12/12 - 1
10-70450767-A-G c.5607A>G p.S1869= Synonymous 12/12 - 1
10-70450767-A-T c.5607A>T p.S1869= Synonymous 12/12 - 1
10-70450771-G-T c.5611G>T p.G1871W Missense 12/12 - 2
10-70450774-T-G c.5614T>G p.F1872V Missense 12/12 - 5
10-70450785-A-C c.5625A>C p.R1875S Missense 12/12 - 1
10-70450785-A-T c.5625A>T p.R1875S Missense 12/12 - 1
10-70450787-G-T c.5627G>T p.S1876I Missense 12/12 - 1
10-70450789-AG-TT c.5629_5630delinsTT p.S1877F Missense 12/12 - 1
10-70450790-G-T c.5630G>T p.S1877I Missense 12/12 - 1
10-70450792-A-C c.5632A>C p.T1878P Missense 12/12 - 1
10-70450796-C-T c.5636C>T p.P1879L Missense 12/12 - 5
10-70450799-A-C c.5639A>C p.H1880P Missense 12/12 - 1
10-70450801-T-A c.5641T>A p.C1881S Missense 12/12 - 1
10-70450804-A-G c.5644A>G p.T1882A Missense 12/12 - 1
10-70450805-AC-A c.5645del p.T1882Rfs*36 Frameshift 12/12 - 1
10-70450805-C-T c.5645C>T p.T1882M Missense 12/12 - 4
10-70450806-G-A c.5646G>A p.T1882= Synonymous 12/12 - 3
10-70450806-G-C c.5646G>C p.T1882= Synonymous 12/12 - 2
10-70450806-G-T c.5646G>T p.T1882= Synonymous 12/12 - 2
10-70450810-C-T c.5650C>T p.P1884S Missense 12/12 - 3
10-70450814-C-T c.5654C>T p.S1885L Missense 12/12 - 4
10-70450815-G-A c.5655G>A p.S1885= Synonymous 12/12 - 1
10-70450815-G-T c.5655G>T p.S1885= Synonymous 12/12 - 1
10-70450816-G-A c.5656G>A p.G1886R Missense 12/12 - 1
10-70450816-G-C c.5656G>C p.G1886R Missense 12/12 - 2
10-70450816-G-T c.5656G>T p.G1886* Nonsense 12/12 - 2
10-70450818-A-G c.5658A>G p.G1886= Synonymous 12/12 - 1
10-70450818-GAA-G c.5658_5659del p.R1887Tfs*10 Frameshift 12/12 - 1
10-70450829-G-A c.5669G>A p.G1890D Missense 12/12 - 1
10-70450844-C-T c.5684C>T p.A1895V Missense 12/12 - 1
10-70450846-G-A c.5686G>A p.A1896T Missense 12/12 - 1
10-70450847-C-T c.5687C>T p.A1896V Missense 12/12 - 1
10-70450849-G-C c.5689G>C p.D1897H Missense 12/12 - 1
10-70450854-C-T c.5694C>T p.G1898= Synonymous 12/12 - 1
10-70450858-G-T c.5698G>T p.G1900C Missense 12/12 - 4
10-70450862-T-G c.5702T>G p.I1901S Missense 12/12 - 2
10-70450866-A-C c.5706A>C p.S1902= Synonymous 12/12 - 1
10-70450866-A-G c.5706A>G p.S1902= Synonymous 12/12 - 1
10-70450866-A-T c.5706A>T p.S1902= Synonymous 12/12 - 1
10-70450875-C-A c.5715C>A p.G1905= Synonymous 12/12 - 2
10-70450875-C-G c.5715C>G p.G1905= Synonymous 12/12 - 2
10-70450875-C-T c.5715C>T p.G1905= Synonymous 12/12 - 4
10-70450876-G-A c.5716G>A p.E1906K Missense 12/12 - 3
10-70450877-A-AAATAG c.5718_5719insATAGA p.V1907Ifs*13 Frameshift 12/12 - 1
10-70450882-G-T c.5722G>T p.A1908S Missense 12/12 - 1
10-70450885-C-T c.5725C>T p.P1909S Missense 12/12 - 1
10-70450886-C-T c.5726C>T p.P1909L Missense 12/12 - 3
10-70450888-C-T c.5728C>T p.L1910F Missense 12/12 - 3
10-70450890-C-A c.5730C>A p.L1910= Synonymous 12/12 - 1
10-70450890-C-T c.5730C>T p.L1910= Synonymous 12/12 - 2
10-70450894-A-C c.5734A>C p.T1912P Missense 12/12 - 2
10-70450895-C-T c.5735C>T p.T1912I Missense 12/12 - 1
10-70450896-C-T c.5736C>T p.T1912= Synonymous 12/12 - 1
10-70450901-C-T c.5741C>T p.S1914F Missense 12/12 - 1
10-70450906-C-G c.5746C>G p.P1916A Missense 12/12 - 1
10-70450909-GTG-ATC c.5749_5751delinsATC p.V1917I Missense 12/12 - 1
10-70450915-G-A c.5755G>A p.E1919K Missense 12/12 - 1
10-70450919-C-T c.5759C>T p.P1920L Missense 12/12 - 1
10-70450924-AT-A c.5766del p.N1923Ifs*8 Frameshift 12/12 - 1
10-70450928-A-T c.5768A>T p.N1923I Missense 12/12 - 1
10-70450932-T-C c.5772T>C p.S1924= Synonymous 12/12 - 1
10-70450936-C-T c.5776C>T p.P1926S Missense 12/12 - 3
10-70450939-T-G c.5779T>G p.S1927A Missense 12/12 - 1
10-70450941-C-A c.5781C>A p.S1927= Synonymous 12/12 - 1
10-70450941-C-G c.5781C>G p.S1927= Synonymous 12/12 - 1
10-70450941-C-T c.5781C>T p.S1927= Synonymous 12/12 - 1
10-70450942-A-T c.5782A>T p.T1928S Missense 12/12 - 1
10-70450943-C-G c.5783C>G p.T1928S Missense 12/12 - 1
10-70450943-C-T c.5783C>T p.T1928I Missense 12/12 - 3
10-70450945-G-T c.5785G>T p.G1929C Missense 12/12 - 1
10-70450950-G-T c.5790G>T p.V1930= Synonymous 12/12 - 1
10-70450952-C-T c.5792C>T p.T1931I Missense 12/12 - 1
10-70450954-G-A c.5794G>A p.E1932K Missense 12/12 - 2
10-70450954-G-C c.5794G>C p.E1932Q Missense 12/12 - 1
10-70450956-G-T c.5796G>T p.E1932D Missense 12/12 - 1
10-70450958-C-T c.5798C>T p.P1933L Missense 12/12 - 6
10-70450964-C-T c.5804C>T p.T1935M Missense 12/12 - 6
10-70450965-G-A c.5805G>A p.T1935= Synonymous 12/12 - 3
10-70450965-G-C c.5805G>C p.T1935= Synonymous 12/12 - 2
10-70450965-G-T c.5805G>T p.T1935= Synonymous 12/12 - 2
10-70450975-C-G c.5815C>G p.P1939A Missense 12/12 - 1
10-70450978-A-G c.5818A>G p.N1940D Missense 12/12 - 1
10-70450981-C-A c.5821C>A p.H1941N Missense 12/12 - 1
10-70450981-C-T c.5821C>T p.H1941Y Missense 12/12 - 1
10-70450988-C-T c.5828C>T p.P1943L Missense 12/12 - 1
10-70450989-C-A c.5829C>A p.P1943= Synonymous 12/12 - 5
10-70450989-C-G c.5829C>G p.P1943= Synonymous 12/12 - 4
10-70450989-C-T c.5829C>T p.P1943= Synonymous 12/12 - 4
10-70450995-C-T c.5835C>T p.F1945= Synonymous 12/12 - 1
10-70450998-C-A c.5838C>A p.L1946= Synonymous 12/12 - 3
10-70450998-C-G c.5838C>G p.L1946= Synonymous 12/12 - 3
10-70450998-C-T c.5838C>T p.L1946= Synonymous 12/12 - 3
10-70450999-A-C c.5839A>C p.T1947P Missense 12/12 - 1
10-70450999-A-G c.5839A>G p.T1947A Missense 12/12 - 1
10-70451003-C-T c.5843C>T p.S1948F Missense 12/12 - 1
10-70451004-T-A c.5844T>A p.S1948= Synonymous 12/12 - 1
10-70451004-T-C c.5844T>C p.S1948= Synonymous 12/12 - 1
10-70451004-T-G c.5844T>G p.S1948= Synonymous 12/12 - 1
10-70451005-C-T c.5845C>T p.P1949S Missense 12/12 - 2
10-70451006-C-A c.5846C>A p.P1949H Missense 12/12 - 1
10-70451006-C-T c.5846C>T p.P1949L Missense 12/12 - 1
10-70451008-C-A c.5848C>A p.Q1950K Missense 12/12 - 1
10-70451011-G-A c.5851G>A p.D1951N Missense 12/12 - 1
10-70451011-G-C c.5851G>C p.D1951H Missense 12/12 - 1
10-70451011-G-T c.5851G>T p.D1951Y Missense 12/12 - 1
10-70451013-C-T c.5853C>T p.D1951= Synonymous 12/12 - 1
10-70451027-C-T c.5867C>T p.P1956L Missense 12/12 - 1
10-70451032-G-A c.5872G>A p.E1958K Missense 12/12 - 1
10-70451031-GGAA-G c.5877_5879del p.E1959del InFrameDeletion 12/12 - 1
10-70451038-G-T c.5878G>T p.D1960Y Missense 12/12 - 2
10-70451039-A-G c.5879A>G p.D1960G Missense 12/12 - 1
10-70451046-G-C c.5886G>C p.Q1962H Missense 12/12 - 1
10-70451046-G-T c.5886G>T p.Q1962H Missense 12/12 - 1
10-70451051-C-T c.5891C>T p.S1964F Missense 12/12 - 3
10-70451058-A-C c.5898A>C p.A1966= Synonymous 12/12 - 1
10-70451058-A-G c.5898A>G p.A1966= Synonymous 12/12 - 1
10-70451058-A-T c.5898A>T p.A1966= Synonymous 12/12 - 1
10-70451059-G-A c.5899G>A p.D1967N Missense 12/12 - 5
10-70451060-A-G c.5900A>G p.D1967G Missense 12/12 - 1
10-70451064-G-A c.5904G>A p.E1968= Synonymous 12/12 - 5
10-70451067-T-C c.5907T>C p.P1969= Synonymous 12/12 - 1
10-70451068-C-T c.5908C>T p.P1970S Missense 12/12 - 1
10-70451076-C-T c.5916C>T p.D1972= Synonymous 12/12 - 1
10-70451077-G-A c.5917G>A p.E1973K Missense 12/12 - 1
10-70451078-A-G c.5918A>G p.E1973G Missense 12/12 - 2
10-70451080-C-T c.5920C>T p.P1974S Missense 12/12 - 2
10-70451085-A-T c.5925A>T p.L1975= Synonymous 12/12 - 1
10-70451090-A-G c.5930A>G p.D1977G Missense 12/12 - 1
10-70451093-A-G c.5933A>G p.D1978G Missense 12/12 - 2
10-70451095-C-T c.5935C>T p.P1979S Missense 12/12 - 2
10-70451098-C-A c.5938C>A p.L1980M Missense 12/12 - 1
10-70451107-G-A c.5947G>A p.A1983T Missense 12/12 - 1
10-70451110-G-A c.5950G>A p.E1984K Missense 12/12 - 3
10-70451110-G-C c.5950G>C p.E1984Q Missense 12/12 - 1
10-70451119-T-C c.5959T>C p.L1987= Synonymous 12/12 - 1
10-70451119-TT-CC c.5959_5960delinsCC p.L1987P Missense 12/12 - 1
10-70451121-G-A c.5961G>A p.L1987= Synonymous 12/12 - 1
10-70451120-T-C c.5960T>C p.L1987S Missense 12/12 - 8
10-70451122-C-T c.5962C>T p.P1988S Missense 12/12 - 1
10-70451123-C-T c.5963C>T p.P1988L Missense 12/12 - 4
10-70451077-G-GAACCCCTATCTGATGACCCCCTGTCACCTGCTGAGGAGAAATTGCCCCACATTGATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTTCAGCTCGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.5973_5974insTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTTCAGCTCGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAACCCCTATCTGATGACCCCCTGTCACCTGCTGAGGAGAAATTGCCCCACATTGAT p.E1992Ffs*15 Frameshift 12/12 - 1
10-70451133-T-A c.5973T>A p.D1991E Missense 12/12 - 3
10-70451133-T-G c.5973T>G p.D1991E Missense 12/12 - 2
10-70451150-G-C c.5990G>C p.S1997T Missense 12/12 - 1
10-70451152-G-A c.5992G>A p.E1998K Missense 12/12 - 1
10-70451152-G-T c.5992G>T p.E1998* Nonsense 12/12 - 1
10-70451153-A-G c.5993A>G p.E1998G Missense 12/12 - 1
10-70451154-G-T c.5994G>T p.E1998D Missense 12/12 - 1
10-70451156-A-C c.5996A>C p.H1999P Missense 12/12 - 1
10-70451156-A-T c.5996A>T p.H1999L Missense 12/12 - 2
10-70451157-C-A c.5997C>A p.H1999Q Missense 12/12 - 1
10-70451157-C-G c.5997C>G p.H1999Q Missense 12/12 - 1
10-70451160-C-A c.6000C>A p.I2000= Synonymous 12/12 - 1
10-70451160-C-T c.6000C>T p.I2000= Synonymous 12/12 - 1
10-70451160-CT-C c.6005del p.L2002Wfs*18 Frameshift 12/12 - 1
10-70451167-G-T c.6007G>T p.D2003Y Missense 12/12 - 4
10-70451168-A-G c.6008A>G p.D2003G Missense 12/12 - 1
10-70451171-C-T c.6011C>T p.A2004V Missense 12/12 - 1
10-70451180-G-A c.6020G>A p.G2007D Missense 12/12 - 1
10-70451183-G-A c.6023G>A p.G2008E Missense 12/12 - 1
10-70451184-G-T c.6024G>T p.G2008= Synonymous 12/12 - 2
10-70451189-C-T c.6029C>T p.A2010V Missense 12/12 - 1
10-70451194-G-A c.6034G>A p.A2012T Missense 12/12 - 5
10-70451198-C-A c.6038C>A p.P2013H Missense 12/12 - 1
10-70451200-G-A c.6040G>A p.A2014T Missense 12/12 - 1
10-70451200-G-T c.6040G>T p.A2014S Missense 12/12 - 2
10-70451205-C-T c.6045C>T p.H2015= Synonymous 12/12 - 6
10-70451210-C-T c.6050C>T p.S2017L Missense 12/12 - 2
10-70451211-G-A c.6051G>A p.S2017= Synonymous 12/12 - 1
10-70451213-T-G c.6053T>G p.V2018G Missense 12/12 - 1
10-70451217-G-C c.6057G>C p.L2019F Missense 12/12 - 1
10-70451218-A-T c.6058A>T p.I2020F Missense 12/12 - 1
10-70451218-A-AT c.6060dup p.E2021* Nonsense 12/12 - 1
10-70451224-T-G c.6064T>G p.C2022G Missense 12/12 - 1
10-70451222-AGT-A c.6066_6067del p.A2023Pfs*11 Frameshift 12/12 - 4
10-70451227-G-A c.6067G>A p.A2023T Missense 12/12 - 4
10-70451228-C-T c.6068C>T p.A2023V Missense 12/12 - 1
10-70451230-C-A c.6070C>A p.R2024= Synonymous 12/12 - 2
10-70451230-C-T c.6070C>T p.R2024W Missense 12/12 - 1
10-70451232-G-A c.6072G>A p.R2024= Synonymous 12/12 - 2
10-70451232-G-C c.6072G>C p.R2024= Synonymous 12/12 - 2
10-70451232-G-T c.6072G>T p.R2024= Synonymous 12/12 - 2
10-70451231-G-A c.6071G>A p.R2024Q Missense 12/12 - 3
10-70451233-C-T c.6073C>T p.R2025* Nonsense 12/12 - 1
10-70451234-G-A c.6074G>A p.R2025Q Missense 12/12 - 2
10-70451244-C-T c.6084C>T p.H2028= Synonymous 12/12 - 5
10-70451245-G-A c.6085G>A p.A2029T Missense 12/12 - 4
10-70451245-G-C c.6085G>C p.A2029P Missense 12/12 - 1
10-70451248-A-G c.6088A>G p.T2030A Missense 12/12 - 1
10-70451249-C-A c.6089C>A p.T2030N Missense 12/12 - 1
10-70451249-C-T c.6089C>T p.T2030I Missense 12/12 - 1
10-70451251-A-C c.6091A>C p.T2031P Missense 12/12 - 1
10-70451257-G-T c.6097G>T p.V2033F Missense 12/12 - 1
10-70451258-T-C c.6098T>C p.V2033A Missense 12/12 - 1
10-70451260-G-C c.6100G>C p.E2034Q Missense 12/12 - 2
10-70451262-GCA-G c.6104_6105del p.H2035Pfs*4 Frameshift 12/12 - 2
10-70451264-A-C c.6104A>C p.H2035P Missense 12/12 - 2
10-70451265-C-T c.6105C>T p.H2035= Synonymous 12/12 - 4
10-70451264-AC-A c.6108del p.N2037Tfs*18 Frameshift 12/12 - 1
10-70451270-A-C c.6110A>C p.N2037T Missense 12/12 - 1
10-70451273-G-A c.6113G>A p.R2038H Missense 12/12 - 2
10-70451278-C-T c.6118C>T p.H2040Y Missense 12/12 - 4
10-70451282-C-T c.6122C>T p.P2041L Missense 12/12 - 1
10-70451284-A-C c.6124A>C p.T2042P Missense 12/12 - 1
10-70451287-C-T c.6127C>T p.R2043C Missense 12/12 - 6
10-70451288-G-A c.6128G>A p.R2043H Missense 12/12 - 3
10-70451288-G-T c.6128G>T p.R2043L Missense 12/12 - 1
10-70451292-C-A c.6132C>A p.L2044= Synonymous 12/12 - 2
10-70451292-C-G c.6132C>G p.L2044= Synonymous 12/12 - 3
10-70451292-C-T c.6132C>T p.L2044= Synonymous 12/12 - 2
10-70451295-C-T c.6135C>T p.S2045= Synonymous 12/12 - 1
10-70451301-C-T c.6141C>T p.V2047= Synonymous 12/12 - 1
10-70451302-T-A c.6142T>A p.F2048I Missense 12/12 - 1
10-70451302-T-C c.6142T>C p.F2048L Missense 12/12 - 6
10-70451304-T-A c.6144T>A p.F2048L Missense 12/12 - 1
10-70451304-T-G c.6144T>G p.F2048L Missense 12/12 - 1
10-70451303-T-A c.6143T>A p.F2048Y Missense 12/12 - 3
10-70451308-C-A c.6148C>A p.Q2050K Missense 12/12 - 1
10-70451313-C-A c.6153C>A p.H2051Q Missense 12/12 - 1
10-70451318-A-T c.6158A>T p.N2053I Missense 12/12 - 1
10-70451319-C-T c.6159C>T p.N2053= Synonymous 12/12 - 2
10-70451321-T-A c.6161T>A p.L2054Q Missense 12/12 - 2
10-70451332-C-A c.6172C>A p.Q2058K Missense 12/12 - 4
10-70451332-C-T c.6172C>T p.Q2058* Nonsense 12/12 - 2
10-70451333-A-G c.6173A>G p.Q2058R Missense 12/12 - 1
10-70451338-G-A c.6178G>A p.G2060S Missense 12/12 - 1
10-70451339-G-A c.6179G>A p.G2060D Missense 12/12 - 1
10-70451344-G-A c.6184G>A p.E2062K Missense 12/12 - 1
10-70451351-A-G c.6191A>G p.N2064S Missense 12/12 - 1
10-70451352-C-T c.6192C>T p.N2064= Synonymous 12/12 - 2
10-70451365-G-C c.6205G>C p.E2069Q Missense 12/12 - 1
10-70451365-G-T c.6205G>T p.E2069* Nonsense 12/12 - 3
10-70451368-G-A c.6208G>A p.A2070T Missense 12/12 - 1
10-70451374-G-A c.6214G>A p.E2072K Missense 12/12 - 1
10-70451378-C-T c.6218C>T p.A2073V Missense 12/12 - 1
10-70451381-AG-TC c.6221_6222delinsTC p.K2074I Missense 12/12 - 1
10-70451379-TAAG-T c.6222_6224del p.K2074del InFrameDeletion 12/12 - 1
10-70451382-G-A c.6222G>A p.K2074= Synonymous 12/12 - 1
10-70451383-A-C c.6223A>C p.N2075H Missense 12/12 - 1
10-70451383-A-G c.6223A>G p.N2075D Missense 12/12 - 1
10-70451383-A-T c.6223A>T p.N2075Y Missense 12/12 - 3
10-70451393-T-C c.6233T>C p.M2078T Missense 12/12 - 1
10-70451394-G-A c.6234G>A p.M2078I Missense 12/12 - 2
10-70451394-G-C c.6234G>C p.M2078I Missense 12/12 - 1
10-70451394-G-T c.6234G>T p.M2078I Missense 12/12 - 1
10-70451395-A-G c.6235A>G p.K2079E Missense 12/12 - 1
10-70451397-G-C c.6237G>C p.K2079N Missense 12/12 - 3
10-70451397-G-T c.6237G>T p.K2079N Missense 12/12 - 5
10-70451399-C-T c.6239C>T p.A2080V Missense 12/12 - 1
10-70451404-G-A c.6244G>A p.E2082K Missense 12/12 - 1
10-70451407-CA-C c.6252del p.D2085Tfs*14 Frameshift 12/12 - 1
10-70451413-G-T c.6253G>T p.D2085Y Missense 12/12 - 1
10-70451415-CC-TT c.6255_6256delinsTT p.Q2086* Missense 12/12 - 1
10-70451415-C-T c.6255C>T p.D2085= Synonymous 12/12 - 1
10-70451414-AC-A c.6256del p.Q2086Rfs*13 Frameshift 12/12 - 1
10-70451416-C-T c.6256C>T p.Q2086* Nonsense 12/12 - 1
10-70451431-G-T c.6271G>T p.G2091C Missense 12/12 - 1
10-70451437-G-A c.6277G>A p.E2093K Missense 12/12 - 1
10-70451437-G-C c.6277G>C p.E2093Q Missense 12/12 - 1
10-70451438-A-G c.6278A>G p.E2093G Missense 12/12 - 1
10-70451439-A-G c.6279A>G p.E2093= Synonymous 12/12 - 2
10-70451444-C-T c.6284C>T p.S2095F Missense 12/12 - 1
10-70451447-C-G c.6287C>G p.S2096C Missense 12/12 - 1
10-70451450-A-G c.6290A>G p.E2097G Missense 12/12 - 1
10-70451388-G-GAAAATGAAGGCCTCAGAGCAAAAAGACCAGGCAGCTAATGAAGGTCCAGAACAGTCCTCTGAATTTTTTTTCAAGCAGAAGACGGCATACGAGATGATAGAGGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.6291_6292insTTTTTTTTCAAGCAGAAGACGGCATACGAGATGATAGAGGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAATGAAGGCCTCAGAGCAAAAAGACCAGGCAGCTAATGAAGGTCCAGAACAGTCCTCTGAA p.V2098Ffs*27 Frameshift 12/12 - 1
10-70451452-G-A c.6292G>A p.V2098I Missense 12/12 - 3
10-70451458-G-A c.6298G>A p.E2100K Missense 12/12 - 3
10-70451458-G-T c.6298G>T p.E2100* Nonsense 12/12 - 1
10-70451459-A-T c.6299A>T p.E2100V Missense 12/12 - 1
10-70451467-C-T c.6307C>T p.Q2103* Nonsense 12/12 - 1
10-70451473-C-A c.6313C>A p.P2105T Missense 12/12 - 5
10-70451473-C-T c.6313C>T p.P2105S Missense 12/12 - 4
10-70451474-C-T c.6314C>T p.P2105L Missense 12/12 - 1
10-70451477-C-A c.6317C>A p.S2106Y Missense 12/12 - 1
10-70451479-C-T c.6319C>T p.H2107Y Missense 12/12 - 1
10-70451483-A-T c.6323A>T p.K2108I Missense 12/12 - 2
10-70451486-C-T c.6326C>T p.A2109V Missense 12/12 - 5
10-70451494-T-G c.6334T>G p.L2112V Missense 12/12 - 2
10-70451499-C-A c.6339C>A p.T2113= Synonymous 12/12 - 3
10-70451499-C-G c.6339C>G p.T2113= Synonymous 12/12 - 1
10-70451499-C-T c.6339C>T p.T2113= Synonymous 12/12 - 2
10-70451501-A-T c.6341A>T p.H2114L Missense 12/12 - 1
10-70451505-C-A c.6345C>A p.D2115E Missense 12/12 - 2
10-70451505-C-G c.6345C>G p.D2115E Missense 12/12 - 3
10-70451506-A-G c.6346A>G p.N2116D Missense 12/12 - 3
10-70451507-A-G c.6347A>G p.N2116S Missense 12/12 - 1
10-70451508-T-G c.6348T>G p.N2116K Missense 12/12 - 1
10-70451512-G-A c.6352G>A p.V2118I Missense 12/12 - 2
10-70451515-A-G c.6355A>G p.T2119A Missense 12/12 - 1
10-70451516-C-T c.6356C>T p.T2119I Missense 12/12 - 1
10-70451517-C-T c.6357C>T p.T2119= Synonymous 12/12 - 1
10-70451518-G-A c.6358G>A p.V2120M Missense 12/12 - 5
10-70451518-G-C c.6358G>C p.V2120L Missense 12/12 - 1
10-70451518-G-T c.6358G>T p.V2120L Missense 12/12 - 3
10-70451522-C-T c.6362C>T p.S2121F Missense 12/12 - 2
10-70451525-C-T c.6365C>T p.P2122L Missense 12/12 - 2
10-70451531-C-T c.6371C>T p.A2124V Missense 12/12 - 2
10-70451533-C-G c.6373C>G p.L2125V Missense 12/12 - 1
10-70451537-C-T c.6377C>T p.T2126I Missense 12/12 - 4
10-70451539-C-T c.6379C>T p.H2127Y Missense 12/12 - 1
10-70451540-A-T c.6380A>T p.H2127L Missense 12/12 - 1
10-70451541-C-T c.6381C>T p.H2127= Synonymous 12/12 - 2
10-70451542-G-A c.6382G>A p.V2128I Missense 12/12 - 6
10-70451546-C-T c.6386C>T p.A2129V Missense 12/12 - 7
10-70451547-G-A c.6387G>A p.A2129= Synonymous 12/12 - 3
10-70451547-G-T c.6387G>T p.A2129= Synonymous 12/12 - 3
10-70451548-G-A c.6388G>A p.G2130R Missense 12/12 - 1
10-70451552-C-G c.6392C>G p.P2131R Missense 12/12 - 1
10-70451560-C-T c.6400C>T p.H2134Y Missense 12/12 - 1
10-70451564-G-A c.6404G>A p.W2135* Nonsense 12/12 - 1
10-70451567-T-C c.6407T>C p.V2136A Missense 12/12 - 2
10-70452260-A-G c.*689A>G - 3-UTRSNV 12/12 - 1
10-70452471-C-T c.*900C>T - 3-UTRSNV 12/12 - 6
10-70453150-G-A c.*1579G>A - 3-UTRSNV 12/12 - 1
10-70453734-A-C c.*2163A>C - 3-UTRSNV 12/12 - 2
10-70453734-A-T c.*2163A>T - 3-UTRSNV 12/12 - 2