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 |