18-9137618-T-G |
c.-52+655T>G |
- |
intron_variant |
- |
1/12 |
1 |
18-9137806-A-G |
c.-52+843A>G |
- |
intron_variant |
- |
1/12 |
1 |
18-9137856-A-G |
c.-52+893A>G |
- |
intron_variant |
- |
1/12 |
1 |
18-9144667-C-T |
c.-52+7704C>T |
- |
intron_variant |
- |
1/12 |
1 |
18-9149437-A-T |
c.-52+12474A>T |
- |
intron_variant |
- |
1/12 |
1 |
18-9149800-T-A |
c.-52+12837T>A |
- |
intron_variant |
- |
1/12 |
1 |
18-9157581-G-A |
c.-52+20618G>A |
- |
intron_variant |
- |
1/12 |
1 |
18-9161764-A-T |
c.-51-20616A>T |
- |
IntronicSNV |
- |
1/12 |
1 |
18-9174885-G-A |
c.-51-7495G>A |
- |
IntronicSNV |
- |
1/12 |
1 |
18-9174885-G-C |
c.-51-7495G>C |
- |
IntronicSNV |
- |
1/12 |
1 |
18-9176047-A-G |
c.-51-6333A>G |
- |
IntronicSNV |
- |
1/12 |
1 |
18-9177894-T-C |
c.-51-4486T>C |
- |
IntronicSNV |
- |
1/12 |
1 |
18-9182329-T-TA |
c.-51-49dup |
- |
IntronicInsertion |
- |
1/12 |
1 |
18-9182331-A-AACTT |
c.-51-49_-51-48insACTT |
- |
IntronicInsertion |
- |
1/12 |
2 |
18-9182331-A-AACTTCAGGTAGGT |
c.-51-49_-51-48insACTTCAGGTAGGT |
- |
IntronicInsertion |
- |
1/12 |
2 |
18-9182331-A-AACTTCAGGTAGGTT |
c.-51-49_-51-48insACTTCAGGTAGGTT |
- |
IntronicInsertion |
- |
1/12 |
2 |
18-9182332-C-A |
c.-51-48C>A |
- |
IntronicSNV |
- |
1/12 |
2 |
18-9182332-C-CAGGTAGGTT |
c.-51-48_-51-47insAGGTAGGTT |
- |
IntronicInsertion |
- |
1/12 |
1 |
18-9182332-C-CTTCAGGTAGGTT |
c.-51-48_-51-47insTTCAGGTAGGTT |
- |
IntronicInsertion |
- |
1/12 |
1 |
18-9182332-C-CTTCAGGTAGTTT |
c.-51-48_-51-47insTTCAGGTAGTTT |
- |
IntronicInsertion |
- |
1/12 |
1 |
18-9182332-C-T |
c.-51-48C>T |
- |
IntronicSNV |
- |
1/12 |
2 |
18-9182379-G-C |
c.-51-1G>C |
- |
IntronicSNV |
- |
1/12 |
1 |
18-9182427-T-TA |
c.1dup |
p.M1? |
CdsStartInsertion |
2/13 |
- |
1 |
18-9182441-C-G |
c.11C>G |
p.S4C |
Missense |
2/13 |
- |
1 |
18-9182454-AC-A |
c.26del |
p.P9Qfs*14 |
Frameshift |
2/13 |
- |
1 |
18-9182460-T-G |
c.30T>G |
p.I10M |
Missense |
2/13 |
- |
1 |
18-9182464-A-G |
c.34A>G |
p.S12G |
Missense |
2/13 |
- |
1 |
18-9182464-AG-CC |
c.34_35delinsCC |
p.S12P |
Missense |
2/13 |
- |
1 |
18-9182465-G-T |
c.35G>T |
p.S12I |
Missense |
2/13 |
- |
1 |
18-9182471-A-G |
c.41A>G |
p.N14S |
Missense |
2/13 |
- |
1 |
18-9182473-TC-CG |
c.43_44delinsCG |
p.S15R |
Missense |
2/13 |
- |
1 |
18-9182474-C-A |
c.44C>A |
p.S15Y |
Missense |
2/13 |
- |
1 |
18-9182474-C-T |
c.44C>T |
p.S15F |
Missense |
2/13 |
- |
1 |
18-9182475-T-A |
c.45T>A |
p.S15= |
Synonymous |
2/13 |
- |
1 |
18-9182475-T-C |
c.45T>C |
p.S15= |
Synonymous |
2/13 |
- |
1 |
18-9182475-T-G |
c.45T>G |
p.S15= |
Synonymous |
2/13 |
- |
1 |
18-9182480-G-A |
c.50G>A |
p.S17N |
Missense |
2/13 |
- |
1 |
18-9182482-G-T |
c.52G>T |
p.D18Y |
Missense |
2/13 |
- |
1 |
18-9182483-A-C |
c.53A>C |
p.D18A |
Missense |
2/13 |
- |
1 |
18-9182485-AG-CT |
c.55_56inv |
p.S19L |
Missense |
2/13 |
- |
1 |
18-9182486-G-A |
c.56G>A |
p.S19N |
Missense |
2/13 |
- |
1 |
18-9182489-A-G |
c.59A>G |
p.N20S |
Missense |
2/13 |
- |
2 |
18-9182491-A-G |
c.61A>G |
p.M21V |
Missense |
2/13 |
- |
1 |
18-9182497-G-A |
c.67G>A |
p.E23K |
Missense |
2/13 |
- |
1 |
18-9182498-A-T |
c.68A>T |
p.E23V |
Missense |
2/13 |
- |
1 |
18-9182501-A-G |
c.71A>G |
p.K24R |
Missense |
2/13 |
- |
1 |
18-9182503-C-T |
c.73C>T |
p.P25S |
Missense |
2/13 |
- |
1 |
18-9182507-A-G |
c.77A>G |
p.Y26C |
Missense |
2/13 |
- |
1 |
18-9182508-T-A |
c.78T>A |
p.Y26* |
Nonsense |
2/13 |
- |
1 |
18-9182508-T-G |
c.78T>G |
p.Y26* |
Nonsense |
2/13 |
- |
1 |
18-9182509-GGA-AGC |
c.79_81delinsAGC |
p.G27S |
Missense |
2/13 |
- |
1 |
18-9182510-G-A |
c.80G>A |
p.G27E |
Missense |
2/13 |
- |
2 |
18-9182516-A-C |
c.86A>C |
p.K29T |
Missense |
2/13 |
- |
1 |
18-9187054-T-C |
c.87+4537T>C |
- |
IntronicSNV |
- |
2/12 |
1 |
18-9187416-AT-A |
c.87+4908del |
- |
IntronicDeletion |
- |
2/12 |
1 |
18-9195548-G-GA |
c.88dup |
p.S30Kfs*2 |
SpliceAcceptorInsertion |
3/13 |
- |
1 |
18-9195550-G-T |
c.89G>T |
p.S30I |
Missense |
3/13 |
- |
1 |
18-9195551-GT-G |
c.90del |
p.S30Rfs*19 |
Frameshift |
3/13 |
- |
1 |
18-9195555-G-T |
c.94G>T |
p.D32Y |
Missense |
3/13 |
- |
5 |
18-9195558-A-G |
c.97A>G |
p.K33E |
Missense |
3/13 |
- |
1 |
18-9195564-G-A |
c.103G>A |
p.A35T |
Missense |
3/13 |
- |
1 |
18-9195565-C-A |
c.104C>A |
p.A35E |
Missense |
3/13 |
- |
1 |
18-9195568-C-T |
c.107C>T |
p.S36F |
Missense |
3/13 |
- |
1 |
18-9195571-A-G |
c.110A>G |
p.Y37C |
Missense |
3/13 |
- |
1 |
18-9195571-A-T |
c.110A>T |
p.Y37F |
Missense |
3/13 |
- |
2 |
18-9195572-C-A |
c.111C>A |
p.Y37* |
Nonsense |
3/13 |
- |
1 |
18-9195575-C-T |
c.114C>T |
p.S38= |
Synonymous |
3/13 |
- |
1 |
18-9195579-A-C |
c.118A>C |
p.T40P |
Missense |
3/13 |
- |
2 |
18-9195585-A-C |
c.124A>C |
p.K42Q |
Missense |
3/13 |
- |
1 |
18-9195586-A-C |
c.125A>C |
p.K42T |
Missense |
3/13 |
- |
1 |
18-9195588-A-G |
c.127A>G |
p.I43V |
Missense |
3/13 |
- |
4 |
18-9195594-C-T |
c.133C>T |
p.R45* |
Nonsense |
3/13 |
- |
3 |
18-9195595-G-A |
c.134G>A |
p.R45Q |
Missense |
3/13 |
- |
3 |
18-9195598-G-C |
c.137G>C |
p.S46T |
Missense |
3/13 |
- |
3 |
18-9195598-G-T |
c.137G>T |
p.S46I |
Missense |
3/13 |
- |
1 |
18-9195607-G-T |
c.146G>T |
p.S49I |
Missense |
3/13 |
- |
3 |
18-9195609-A-G |
c.148A>G |
p.K50E |
Missense |
3/13 |
- |
1 |
18-9195609-AAGG-A |
c.151_153del |
p.E51del |
InFrameDeletion |
3/13 |
- |
1 |
18-9195612-G-A |
c.151G>A |
p.E51K |
Missense |
3/13 |
- |
2 |
18-9195612-G-C |
c.151G>C |
p.E51Q |
Missense |
3/13 |
- |
1 |
18-9195612-G-T |
c.151G>T |
p.E51* |
Nonsense |
3/13 |
- |
1 |
18-9195613-A-T |
c.152A>T |
p.E51V |
Missense |
3/13 |
- |
1 |
18-9195616-T-C |
c.155T>C |
p.M52T |
Missense |
3/13 |
- |
1 |
18-9195618-A-G |
c.157A>G |
p.K53E |
Missense |
3/13 |
- |
1 |
18-9195622-A-G |
c.161A>G |
p.E54G |
Missense |
3/13 |
- |
1 |
18-9195623-G-C |
c.162G>C |
p.E54D |
Missense |
3/13 |
- |
3 |
18-9195623-G-T |
c.162G>T |
p.E54D |
Missense |
3/13 |
- |
4 |
18-9195627-T-C |
c.166T>C |
p.S56P |
Missense |
3/13 |
- |
1 |
18-9195627-TCA-AAC |
c.166_168delinsAAC |
p.S56N |
Missense |
3/13 |
- |
1 |
18-9195635-G-C |
c.174G>C |
p.M58I |
Missense |
3/13 |
- |
1 |
18-9195639-C-T |
c.178C>T |
p.R60C |
Missense |
3/13 |
- |
2 |
18-9195640-G-A |
c.179G>A |
p.R60H |
Missense |
3/13 |
- |
2 |
18-9195641-TA-T |
c.183del |
p.K61Nfs*83 |
Frameshift |
3/13 |
- |
1 |
18-9195648-C-A |
c.187C>A |
p.P63T |
Missense |
3/13 |
- |
1 |
18-9195648-CC-TT |
c.187_188delinsTT |
p.P63F |
Missense |
3/13 |
- |
2 |
18-9195648-C-T |
c.187C>T |
p.P63S |
Missense |
3/13 |
- |
2 |
18-9195653-T-C |
c.192T>C |
p.F64= |
Synonymous |
3/13 |
- |
1 |
18-9195662-C-T |
c.201C>T |
p.S67= |
Synonymous |
3/13 |
- |
1 |
18-9195663-C-T |
c.202C>T |
p.P68S |
Missense |
3/13 |
- |
3 |
18-9195666-TC-GG |
c.205_206delinsGG |
p.S69G |
Missense |
3/13 |
- |
1 |
18-9195667-C-T |
c.206C>T |
p.S69L |
Missense |
3/13 |
- |
1 |
18-9195672-A-G |
c.211A>G |
p.N71D |
Missense |
3/13 |
- |
1 |
18-9195681-C-T |
c.220C>T |
p.R74* |
Nonsense |
3/13 |
- |
1 |
18-9195682-G-A |
c.221G>A |
p.R74Q |
Missense |
3/13 |
- |
1 |
18-9195688-C-T |
c.227C>T |
p.S76L |
Missense |
3/13 |
- |
4 |
18-9195691-A-G |
c.230A>G |
p.D77G |
Missense |
3/13 |
- |
6 |
18-9195696-G-A |
c.235G>A |
p.D79N |
Missense |
3/13 |
- |
1 |
18-9195696-G-C |
c.235G>C |
p.D79H |
Missense |
3/13 |
- |
1 |
18-9195698-T-A |
c.235+2T>A |
- |
IntronicSNV |
- |
3/12 |
1 |
18-9195776-T-G |
c.235+80T>G |
- |
IntronicSNV |
- |
3/12 |
1 |
18-9204228-A-G |
c.236-246A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
18-9204482-C-T |
c.244C>T |
p.P82S |
Missense |
4/13 |
- |
3 |
18-9204483-C-G |
c.245C>G |
p.P82R |
Missense |
4/13 |
- |
1 |
18-9204492-C-G |
c.254C>G |
p.T85R |
Missense |
4/13 |
- |
1 |
18-9204495-G-T |
c.257G>T |
p.S86I |
Missense |
4/13 |
- |
2 |
18-9204496-GT-G |
c.258del |
p.S86Rfs*58 |
Frameshift |
4/13 |
- |
1 |
18-9204502-T-G |
c.264T>G |
p.N88K |
Missense |
4/13 |
- |
1 |
18-9204501-A-AT |
c.265dup |
p.W89Lfs*30 |
Frameshift |
4/13 |
- |
1 |
18-9204505-G-A |
c.267G>A |
p.W89* |
Nonsense |
4/13 |
- |
1 |
18-9204505-G-T |
c.267G>T |
p.W89C |
Missense |
4/13 |
- |
1 |
18-9204508-G-A |
c.270G>A |
p.G90= |
Synonymous |
4/13 |
- |
2 |
18-9204515-C-G |
c.277C>G |
p.L93V |
Missense |
4/13 |
- |
1 |
18-9204517-T-TA |
c.280dup |
p.I94Nfs*25 |
Frameshift |
4/13 |
- |
2 |
18-9204522-C-G |
c.284C>G |
p.S95C |
Missense |
4/13 |
- |
3 |
18-9204526-T-G |
c.288T>G |
p.S96= |
Synonymous |
4/13 |
- |
1 |
18-9204527-T-C |
c.289T>C |
p.Y97H |
Missense |
4/13 |
- |
1 |
18-9204529-C-A |
c.291C>A |
p.Y97* |
Nonsense |
4/13 |
- |
1 |
18-9204534-C-T |
c.296C>T |
p.T99I |
Missense |
4/13 |
- |
1 |
18-9204535-A-G |
c.297A>G |
p.T99= |
Synonymous |
4/13 |
- |
1 |
18-9204537-A-C |
c.299A>C |
p.Y100S |
Missense |
4/13 |
- |
1 |
18-9204540-C-A |
c.302C>A |
p.S101* |
Nonsense |
4/13 |
- |
1 |
18-9204540-CA-GT |
c.302_303delinsGT |
p.S101C |
Missense |
4/13 |
- |
1 |
18-9204540-C-G |
c.302C>G |
p.S101* |
Nonsense |
4/13 |
- |
1 |
18-9204541-CA-C |
c.303del |
p.E102Rfs*42 |
Frameshift |
4/13 |
- |
1 |
18-9204542-G-C |
c.304G>C |
p.E102Q |
Missense |
4/13 |
- |
1 |
18-9204543-G-A |
c.304+1G>A |
- |
IntronicSNV |
- |
4/12 |
1 |
18-9204556-C-G |
c.304+14C>G |
- |
IntronicSNV |
- |
4/12 |
1 |
18-9208664-G-A |
c.314G>A |
p.G105D |
Missense |
5/13 |
- |
1 |
18-9208665-T-C |
c.315T>C |
p.G105= |
Synonymous |
5/13 |
- |
1 |
18-9208666-C-A |
c.316C>A |
p.P106T |
Missense |
5/13 |
- |
1 |
18-9208665-TC-T |
c.317del |
p.P106Qfs*38 |
Frameshift |
5/13 |
- |
1 |
18-9208667-C-T |
c.317C>T |
p.P106L |
Missense |
5/13 |
- |
1 |
18-9208669-G-A |
c.319G>A |
p.E107K |
Missense |
5/13 |
- |
1 |
18-9208682-CAAAA-C |
c.335_338del |
p.K112Rfs*31 |
Frameshift |
5/13 |
- |
1 |
18-9208685-A-G |
c.335A>G |
p.K112R |
Missense |
5/13 |
- |
1 |
18-9208689-G-C |
c.339G>C |
p.K113N |
Missense |
5/13 |
- |
1 |
18-9208692-A-C |
c.342A>C |
p.E114D |
Missense |
5/13 |
- |
1 |
18-9208692-A-T |
c.342A>T |
p.E114D |
Missense |
5/13 |
- |
2 |
18-9208695-T-A |
c.345T>A |
p.A115= |
Synonymous |
5/13 |
- |
1 |
18-9208695-T-C |
c.345T>C |
p.A115= |
Synonymous |
5/13 |
- |
1 |
18-9208695-T-G |
c.345T>G |
p.A115= |
Synonymous |
5/13 |
- |
1 |
18-9208700-A-C |
c.350A>C |
p.N117T |
Missense |
5/13 |
- |
1 |
18-9208705-A-G |
c.355A>G |
p.K119E |
Missense |
5/13 |
- |
1 |
18-9208706-A-G |
c.356A>G |
p.K119R |
Missense |
5/13 |
- |
1 |
18-9208708-TC-AA |
c.358_359delinsAA |
p.S120N |
Missense |
5/13 |
- |
1 |
18-9208708-TC-CT |
c.358_359delinsCT |
p.S120L |
Missense |
5/13 |
- |
1 |
18-9208709-C-T |
c.359C>T |
p.S120F |
Missense |
5/13 |
- |
2 |
18-9208710-C-T |
c.360C>T |
p.S120= |
Synonymous |
5/13 |
- |
4 |
18-9208711-A-G |
c.361A>G |
p.T121A |
Missense |
5/13 |
- |
1 |
18-9208717-G-A |
c.367G>A |
p.V123I |
Missense |
5/13 |
- |
1 |
18-9208723-A-AT |
c.375dup |
p.L126Sfs*8 |
Frameshift |
5/13 |
- |
1 |
18-9208726-C-T |
c.376C>T |
p.L126F |
Missense |
5/13 |
- |
1 |
18-9208736-A-G |
c.386A>G |
p.Y129C |
Missense |
5/13 |
- |
2 |
18-9208737-T-C |
c.387T>C |
p.Y129= |
Synonymous |
5/13 |
- |
1 |
18-9208738-C-T |
c.388C>T |
p.P130S |
Missense |
5/13 |
- |
2 |
18-9208744-T-TAA |
c.394_395insAA |
p.S132* |
Nonsense |
5/13 |
- |
1 |
18-9208740-ACT-A |
c.395_396del |
p.S132* |
Frameshift |
5/13 |
- |
1 |
18-9208745-C-CT |
c.396dup |
p.E133* |
Nonsense |
5/13 |
- |
1 |
18-9208751-G-A |
c.401G>A |
p.R134Q |
Missense |
5/13 |
- |
1 |
18-9208757-A-T |
c.407A>T |
p.Q136L |
Missense |
5/13 |
- |
1 |
18-9208758-G-C |
c.408G>C |
p.Q136H |
Missense |
5/13 |
- |
2 |
18-9208758-G-T |
c.408G>T |
p.Q136H |
Missense |
5/13 |
- |
1 |
18-9208760-T-C |
c.410T>C |
p.M137T |
Missense |
5/13 |
- |
1 |
18-9208761-G-A |
c.411G>A |
p.M137I |
Missense |
5/13 |
- |
1 |
18-9208762-G-A |
c.412G>A |
p.A138T |
Missense |
5/13 |
- |
5 |
18-9208763-C-A |
c.413C>A |
p.A138E |
Missense |
5/13 |
- |
1 |
18-9208763-C-T |
c.413C>T |
p.A138V |
Missense |
5/13 |
- |
1 |
18-9208765-C-T |
c.415C>T |
p.L139F |
Missense |
5/13 |
- |
2 |
18-9208770-T-A |
c.420T>A |
p.L140= |
Synonymous |
5/13 |
- |
1 |
18-9208770-T-C |
c.420T>C |
p.L140= |
Synonymous |
5/13 |
- |
1 |
18-9208770-T-G |
c.420T>G |
p.L140= |
Synonymous |
5/13 |
- |
1 |
18-9208782-A-C |
c.432A>C |
p.T144= |
Synonymous |
5/13 |
- |
1 |
18-9208782-A-G |
c.432A>G |
p.T144= |
Synonymous |
5/13 |
- |
1 |
18-9208782-A-T |
c.432A>T |
p.T144= |
Synonymous |
5/13 |
- |
1 |
18-9208783-G-A |
c.433G>A |
p.A145T |
Missense |
5/13 |
- |
1 |
18-9208786-AGA-CAT |
c.436_438delinsCAT |
p.R146H |
Missense |
5/13 |
- |
1 |
18-9208786-AG-CA |
c.436_437delinsCA |
p.R146Q |
Missense |
5/13 |
- |
2 |
18-9208794-C-T |
c.444C>T |
p.N148= |
Synonymous |
5/13 |
- |
1 |
18-9208797-T-C |
c.447T>C |
p.S149= |
Synonymous |
5/13 |
- |
1 |
18-9208798-C-T |
c.448C>T |
p.P150S |
Missense |
5/13 |
- |
3 |
18-9208801-G-A |
c.451G>A |
p.D151N |
Missense |
5/13 |
- |
1 |
18-9208972-A-G |
c.451+171A>G |
- |
IntronicSNV |
- |
5/12 |
3 |
18-9211269-A-G |
c.452-313A>G |
- |
IntronicSNV |
- |
5/12 |
1 |
18-9211269-A-T |
c.452-313A>T |
- |
IntronicSNV |
- |
5/12 |
1 |
18-9211404-A-AG |
c.452-175dup |
- |
IntronicInsertion |
- |
5/12 |
1 |
18-9211585-C-T |
c.455C>T |
p.S152F |
Missense |
6/13 |
- |
1 |
18-9211588-CA-TG |
c.458_459inv |
p.T153M |
Missense |
6/13 |
- |
1 |
18-9211590-C-T |
c.460C>T |
p.P154S |
Missense |
6/13 |
- |
1 |
18-9211591-C-T |
c.461C>T |
p.P154L |
Missense |
6/13 |
- |
1 |
18-9211594-A-G |
c.464A>G |
p.N155S |
Missense |
6/13 |
- |
1 |
18-9211598-T-C |
c.468T>C |
p.H156= |
Synonymous |
6/13 |
- |
2 |
18-9211606-A-G |
c.476A>G |
p.Q159R |
Missense |
6/13 |
- |
1 |
18-9211603-CACAA-C |
c.478_481del |
p.T160Rfs*38 |
Frameshift |
6/13 |
- |
1 |
18-9211608-A-G |
c.478A>G |
p.T160A |
Missense |
6/13 |
- |
1 |
18-9211611-A-G |
c.481A>G |
p.T161A |
Missense |
6/13 |
- |
1 |
18-9211612-C-T |
c.482C>T |
p.T161M |
Missense |
6/13 |
- |
6 |
18-9211613-G-A |
c.483G>A |
p.T161= |
Synonymous |
6/13 |
- |
2 |
18-9211613-G-C |
c.483G>C |
p.T161= |
Synonymous |
6/13 |
- |
2 |
18-9211613-G-T |
c.483G>T |
p.T161= |
Synonymous |
6/13 |
- |
1 |
18-9211614-C-T |
c.484C>T |
p.P162S |
Missense |
6/13 |
- |
1 |
18-9211619-C-T |
c.489C>T |
p.A163= |
Synonymous |
6/13 |
- |
1 |
18-9211624-A-G |
c.494A>G |
p.K165R |
Missense |
6/13 |
- |
1 |
18-9211632-C-G |
c.502C>G |
p.P168A |
Missense |
6/13 |
- |
1 |
18-9211638-TC-CT |
c.508_509delinsCT |
p.S170L |
Missense |
6/13 |
- |
2 |
18-9211639-C-T |
c.509C>T |
p.S170F |
Missense |
6/13 |
- |
1 |
18-9211642-C-T |
c.512C>T |
p.S171L |
Missense |
6/13 |
- |
1 |
18-9211645-C-G |
c.515C>G |
p.S172C |
Missense |
6/13 |
- |
1 |
18-9211648-G-A |
c.518G>A |
p.R173Q |
Missense |
6/13 |
- |
1 |
18-9211649-A-C |
c.519A>C |
p.R173= |
Synonymous |
6/13 |
- |
1 |
18-9211654-A-T |
c.524A>T |
p.K175I |
Missense |
6/13 |
- |
2 |
18-9211656-G-C |
c.526G>C |
p.D176H |
Missense |
6/13 |
- |
1 |
18-9211657-A-T |
c.527A>T |
p.D176V |
Missense |
6/13 |
- |
1 |
18-9211659-A-G |
c.529A>G |
p.K177E |
Missense |
6/13 |
- |
1 |
18-9211662-G-A |
c.532G>A |
p.V178I |
Missense |
6/13 |
- |
2 |
18-9211666-A-G |
c.536A>G |
p.N179S |
Missense |
6/13 |
- |
1 |
18-9211671-AGA-CAT |
c.541_543delinsCAT |
p.R181H |
Missense |
6/13 |
- |
1 |
18-9211675-A-G |
c.545A>G |
p.N182S |
Missense |
6/13 |
- |
1 |
18-9211676-T-C |
c.546T>C |
p.N182= |
Synonymous |
6/13 |
- |
1 |
18-9211677-G-A |
c.547G>A |
p.E183K |
Missense |
6/13 |
- |
2 |
18-9211680-C-T |
c.550C>T |
p.R184C |
Missense |
6/13 |
- |
1 |
18-9211681-G-C |
c.551G>C |
p.R184P |
Missense |
6/13 |
- |
1 |
18-9211686-G-A |
c.556G>A |
p.E186K |
Missense |
6/13 |
- |
1 |
18-9211692-C-A |
c.562C>A |
p.P188T |
Missense |
6/13 |
- |
1 |
18-9211692-C-T |
c.562C>T |
p.P188S |
Missense |
6/13 |
- |
1 |
18-9211693-C-T |
c.563C>T |
p.P188L |
Missense |
6/13 |
- |
1 |
18-9211696-T-C |
c.566T>C |
p.L189S |
Missense |
6/13 |
- |
1 |
18-9211698-C-A |
c.568C>A |
p.H190N |
Missense |
6/13 |
- |
1 |
18-9211696-TAC-T |
c.570_571del |
p.M191Gfs*11 |
Frameshift |
6/13 |
- |
1 |
18-9211705-C-T |
c.575C>T |
p.A192V |
Missense |
6/13 |
- |
1 |
18-9211708-C-A |
c.578C>A |
p.A193D |
Missense |
6/13 |
- |
1 |
18-9211708-C-T |
c.578C>T |
p.A193V |
Missense |
6/13 |
- |
2 |
18-9211709-CT-C |
c.579del |
p.I194Ffs*5 |
Frameshift |
6/13 |
- |
1 |
18-9211713-C-G |
c.583C>G |
p.R195G |
Missense |
6/13 |
- |
1 |
18-9211713-CGA-TGT |
c.583_585delinsTGT |
p.R195C |
Missense |
6/13 |
- |
1 |
18-9211713-C-T |
c.583C>T |
p.R195* |
Nonsense |
6/13 |
- |
2 |
18-9211714-G-T |
c.584G>T |
p.R195L |
Missense |
6/13 |
- |
1 |
18-9211716-G-A |
c.586G>A |
p.G196R |
Missense |
6/13 |
- |
1 |
18-9211716-G-C |
c.586G>C |
p.G196R |
Missense |
6/13 |
- |
1 |
18-9211730-A-G |
c.600A>G |
p.Q200= |
Synonymous |
6/13 |
- |
3 |
18-9211733-T-A |
c.603T>A |
p.V201= |
Synonymous |
6/13 |
- |
1 |
18-9211733-T-C |
c.603T>C |
p.V201= |
Synonymous |
6/13 |
- |
1 |
18-9211733-T-G |
c.603T>G |
p.V201= |
Synonymous |
6/13 |
- |
1 |
18-9211737-G-A |
c.607G>A |
p.E203K |
Missense |
6/13 |
- |
4 |
18-9211755-G-T |
c.625G>T |
p.A209S |
Missense |
6/13 |
- |
1 |
18-9211759-A-G |
c.629A>G |
p.N210S |
Missense |
6/13 |
- |
2 |
18-9211762-T-G |
c.632T>G |
p.V211G |
Missense |
6/13 |
- |
1 |
18-9211769-G-A |
c.639G>A |
p.V213= |
Synonymous |
6/13 |
- |
1 |
18-9211769-G-C |
c.639G>C |
p.V213= |
Synonymous |
6/13 |
- |
1 |
18-9211769-G-T |
c.639G>T |
p.V213= |
Synonymous |
6/13 |
- |
1 |
18-9211770-A-G |
c.640A>G |
p.K214E |
Missense |
6/13 |
- |
1 |
18-9211774-AT-A |
c.648del |
p.F216Lfs*23 |
Frameshift |
6/13 |
- |
1 |
18-9211778-T-C |
c.648T>C |
p.F216= |
Synonymous |
6/13 |
- |
1 |
18-9211779-G-A |
c.649G>A |
p.A217T |
Missense |
6/13 |
- |
1 |
18-9216756-G-A |
c.653G>A |
p.G218D |
Missense |
7/13 |
- |
2 |
18-9216756-G-C |
c.653G>C |
p.G218A |
Missense |
7/13 |
- |
1 |
18-9216759-G-C |
c.656G>C |
p.W219S |
Missense |
7/13 |
- |
1 |
18-9216762-C-T |
c.659C>T |
p.T220I |
Missense |
7/13 |
- |
1 |
18-9216765-C-T |
c.662C>T |
p.P221L |
Missense |
7/13 |
- |
1 |
18-9216771-A-T |
c.668A>T |
p.H223L |
Missense |
7/13 |
- |
1 |
18-9216773-G-T |
c.670G>T |
p.E224* |
Nonsense |
7/13 |
- |
1 |
18-9216776-G-C |
c.673G>C |
p.A225P |
Missense |
7/13 |
- |
3 |
18-9216777-C-T |
c.674C>T |
p.A225V |
Missense |
7/13 |
- |
2 |
18-9216778-T-A |
c.675T>A |
p.A225= |
Synonymous |
7/13 |
- |
2 |
18-9216778-T-C |
c.675T>C |
p.A225= |
Synonymous |
7/13 |
- |
2 |
18-9216778-T-G |
c.675T>G |
p.A225= |
Synonymous |
7/13 |
- |
2 |
18-9216780-G-A |
c.677G>A |
p.C226Y |
Missense |
7/13 |
- |
1 |
18-9216785-G-C |
c.682G>C |
p.V228L |
Missense |
7/13 |
- |
1 |
18-9216786-T-C |
c.683T>C |
p.V228A |
Missense |
7/13 |
- |
1 |
18-9216788-G-A |
c.685G>A |
p.G229R |
Missense |
7/13 |
- |
1 |
18-9216794-T-TA |
c.692dup |
p.Y231* |
Nonsense |
7/13 |
- |
1 |
18-9216796-AC-A |
c.693del |
p.Y231* |
Frameshift |
7/13 |
- |
1 |
18-9216796-C-G |
c.693C>G |
p.Y231* |
Nonsense |
7/13 |
- |
1 |
18-9216797-G-A |
c.694G>A |
p.D232N |
Missense |
7/13 |
- |
2 |
18-9216798-A-G |
c.695A>G |
p.D232G |
Missense |
7/13 |
- |
1 |
18-9216799-T-C |
c.696T>C |
p.D232= |
Synonymous |
7/13 |
- |
1 |
18-9216806-A-G |
c.703A>G |
p.K235E |
Missense |
7/13 |
- |
1 |
18-9216808-G-C |
c.705G>C |
p.K235N |
Missense |
7/13 |
- |
1 |
18-9216812-C-T |
c.709C>T |
p.L237F |
Missense |
7/13 |
- |
1 |
18-9216817-A-G |
c.714A>G |
p.I238M |
Missense |
7/13 |
- |
1 |
18-9216818-G-A |
c.715G>A |
p.A239T |
Missense |
7/13 |
- |
2 |
18-9216819-C-T |
c.716C>T |
p.A239V |
Missense |
7/13 |
- |
1 |
18-9216820-A-C |
c.717A>C |
p.A239= |
Synonymous |
7/13 |
- |
1 |
18-9216820-A-G |
c.717A>G |
p.A239= |
Synonymous |
7/13 |
- |
1 |
18-9216820-A-T |
c.717A>T |
p.A239= |
Synonymous |
7/13 |
- |
1 |
18-9216821-G-C |
c.718G>C |
p.A240P |
Missense |
7/13 |
- |
1 |
18-9216822-C-T |
c.719C>T |
p.A240V |
Missense |
7/13 |
- |
1 |
18-9216824-G-A |
c.721G>A |
p.G241R |
Missense |
7/13 |
- |
1 |
18-9216824-G-C |
c.721G>C |
p.G241R |
Missense |
7/13 |
- |
1 |
18-9216825-G-C |
c.722G>C |
p.G241A |
Missense |
7/13 |
- |
4 |
18-9216828-C-A |
c.725C>A |
p.A242E |
Missense |
7/13 |
- |
1 |
18-9216833-G-A |
c.730G>A |
p.V244I |
Missense |
7/13 |
- |
1 |
18-9216836-A-C |
c.733A>C |
p.N245H |
Missense |
7/13 |
- |
1 |
18-9216839-A-G |
c.736A>G |
p.T246A |
Missense |
7/13 |
- |
1 |
18-9216842-C-T |
c.739C>T |
p.Q247* |
Nonsense |
7/13 |
- |
1 |
18-9216848-TT-CA |
c.745_746delinsCA |
p.L249Q |
Missense |
7/13 |
- |
1 |
18-9216853-T-C |
c.750T>C |
p.D250= |
Synonymous |
7/13 |
- |
1 |
18-9216863-C-G |
c.760C>G |
p.P254A |
Missense |
7/13 |
- |
8 |
18-9216864-C-G |
c.761C>G |
p.P254R |
Missense |
7/13 |
- |
1 |
18-9216858-ACACTC-A |
c.763_767del |
p.L255* |
Frameshift |
7/13 |
- |
1 |
18-9216866-AC-A |
c.763del |
p.L255Sfs*12 |
Frameshift |
7/13 |
- |
1 |
18-9216866-C-A |
c.763C>A |
p.L255I |
Missense |
7/13 |
- |
1 |
18-9216866-CTC-ATG |
c.763_765delinsATG |
p.L255M |
Missense |
7/13 |
- |
1 |
18-9216883-T-G |
c.780T>G |
p.S260R |
Missense |
7/13 |
- |
1 |
18-9216885-G-A |
c.782G>A |
p.S261N |
Missense |
7/13 |
- |
1 |
18-9216890-C-T |
c.787C>T |
p.H263Y |
Missense |
7/13 |
- |
1 |
18-9216893-A-G |
c.790A>G |
p.R264G |
Missense |
7/13 |
- |
1 |
18-9216893-AGA-TGT |
c.790_792delinsTGT |
p.R264C |
Missense |
7/13 |
- |
1 |
18-9216894-G-C |
c.791G>C |
p.R264T |
Missense |
7/13 |
- |
1 |
18-9216896-G-T |
c.793G>T |
p.D265Y |
Missense |
7/13 |
- |
1 |
18-9216897-A-C |
c.794A>C |
p.D265A |
Missense |
7/13 |
- |
1 |
18-9216899-G-A |
c.795+1G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
18-9221840-A-G |
c.796-10A>G |
- |
IntronicSNV |
- |
7/12 |
3 |
18-9221852-A-G |
c.798A>G |
p.I266M |
Missense |
8/13 |
- |
1 |
18-9221854-T-G |
c.800T>G |
p.V267G |
Missense |
8/13 |
- |
3 |
18-9221859-C-T |
c.805C>T |
p.L269= |
Synonymous |
8/13 |
- |
1 |
18-9221865-AC-A |
c.811del |
p.L271Ffs*20 |
Frameshift |
8/13 |
- |
1 |
18-9221868-C-A |
c.814C>A |
p.R272S |
Missense |
8/13 |
- |
2 |
18-9221868-C-T |
c.814C>T |
p.R272C |
Missense |
8/13 |
- |
2 |
18-9221874-G-T |
c.820G>T |
p.G274C |
Missense |
8/13 |
- |
1 |
18-9221881-A-G |
c.827A>G |
p.N276S |
Missense |
8/13 |
- |
1 |
18-9221883-C-G |
c.829C>G |
p.P277A |
Missense |
8/13 |
- |
14 |
18-9221883-C-T |
c.829C>T |
p.P277S |
Missense |
8/13 |
- |
1 |
18-9221885-A-C |
c.831A>C |
p.P277= |
Synonymous |
8/13 |
- |
1 |
18-9221885-A-G |
c.831A>G |
p.P277= |
Synonymous |
8/13 |
- |
1 |
18-9221885-A-T |
c.831A>T |
p.P277= |
Synonymous |
8/13 |
- |
1 |
18-9221890-A-G |
c.836A>G |
p.Q279R |
Missense |
8/13 |
- |
1 |
18-9221897-T-C |
c.843T>C |
p.N281= |
Synonymous |
8/13 |
- |
1 |
18-9221902-A-C |
c.848A>C |
p.H283P |
Missense |
8/13 |
- |
1 |
18-9221902-A-T |
c.848A>T |
p.H283L |
Missense |
8/13 |
- |
1 |
18-9221906-G-A |
c.852G>A |
p.G284= |
Synonymous |
8/13 |
- |
1 |
18-9221905-GGGA-G |
c.853_855del |
p.E285del |
InFrameDeletion |
8/13 |
- |
1 |
18-9221907-G-C |
c.853G>C |
p.E285Q |
Missense |
8/13 |
- |
2 |
18-9221907-G-T |
c.853G>T |
p.E285* |
Nonsense |
8/13 |
- |
1 |
18-9221910-C-T |
c.856C>T |
p.R286C |
Missense |
8/13 |
- |
3 |
18-9221917-T-C |
c.863T>C |
p.V288A |
Missense |
8/13 |
- |
1 |
18-9221925-G-C |
c.871G>C |
p.A291P |
Missense |
8/13 |
- |
1 |
18-9221928-G-T |
c.874G>T |
p.E292* |
Nonsense |
8/13 |
- |
1 |
18-9221934-G-A |
c.880G>A |
p.E294K |
Missense |
8/13 |
- |
1 |
18-9221934-G-T |
c.880G>T |
p.E294* |
Nonsense |
8/13 |
- |
1 |
18-9221936-G-A |
c.882G>A |
p.E294= |
Synonymous |
8/13 |
- |
1 |
18-9221940-TT-CC |
c.886_887delinsCC |
p.L296P |
Missense |
8/13 |
- |
1 |
18-9221941-T-C |
c.887T>C |
p.L296S |
Missense |
8/13 |
- |
1 |
18-9221949-CTA-TGG |
c.895_897delinsTGG |
p.L299W |
Missense |
8/13 |
- |
1 |
18-9221959-G-A |
c.905G>A |
p.R302K |
Missense |
8/13 |
- |
1 |
18-9221965-T-C |
c.911T>C |
p.V304A |
Missense |
8/13 |
- |
1 |
18-9221967-C-T |
c.913C>T |
p.P305S |
Missense |
8/13 |
- |
1 |
18-9221974-C-G |
c.920C>G |
p.S307C |
Missense |
8/13 |
- |
1 |
18-9221976-G-A |
c.922G>A |
p.D308N |
Missense |
8/13 |
- |
1 |
18-9221974-CTGA-C |
c.930_932del |
p.D310del |
InFrameDeletion |
8/13 |
- |
2 |
18-9221984-T-A |
c.930T>A |
p.D310E |
Missense |
8/13 |
- |
1 |
18-9221987-A-G |
c.933A>G |
p.E311= |
Synonymous |
8/13 |
- |
1 |
18-9221988-AG-CT |
c.934_935inv |
p.S312L |
Missense |
8/13 |
- |
1 |
18-9221991-T-C |
c.937T>C |
p.Y313H |
Missense |
8/13 |
- |
1 |
18-9221991-T-TA |
c.938dup |
p.Y313* |
Nonsense |
8/13 |
- |
1 |
18-9221993-C-A |
c.939C>A |
p.Y313* |
Nonsense |
8/13 |
- |
3 |
18-9221993-C-G |
c.939C>G |
p.Y313* |
Nonsense |
8/13 |
- |
2 |
18-9221994-A-G |
c.940A>G |
p.T314A |
Missense |
8/13 |
- |
2 |
18-9221995-C-A |
c.941C>A |
p.T314K |
Missense |
8/13 |
- |
1 |
18-9222488-AT-A |
c.943+500del |
- |
IntronicDeletion |
- |
8/12 |
1 |
18-9224199-T-A |
c.943+2202T>A |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9224406-CT-C |
c.943+2419del |
- |
IntronicDeletion |
- |
8/12 |
1 |
18-9227252-G-A |
c.943+5255G>A |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9232997-A-G |
c.943+11000A>G |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9234774-A-G |
c.943+12777A>G |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9234794-A-G |
c.943+12797A>G |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9235675-G-A |
c.943+13678G>A |
- |
IntronicSNV |
- |
8/12 |
2 |
18-9235675-G-C |
c.943+13678G>C |
- |
IntronicSNV |
- |
8/12 |
2 |
18-9246324-T-A |
c.944-7885T>A |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9246324-T-C |
c.944-7885T>C |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9246378-C-A |
c.944-7831C>A |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9246378-C-T |
c.944-7831C>T |
- |
IntronicSNV |
- |
8/12 |
1 |
18-9254212-C-G |
c.947C>G |
p.S316C |
Missense |
9/13 |
- |
1 |
18-9254212-C-T |
c.947C>T |
p.S316F |
Missense |
9/13 |
- |
1 |
18-9254213-C-A |
c.948C>A |
p.S316= |
Synonymous |
9/13 |
- |
1 |
18-9254213-C-T |
c.948C>T |
p.S316= |
Synonymous |
9/13 |
- |
1 |
18-9254214-G-A |
c.949G>A |
p.E317K |
Missense |
9/13 |
- |
1 |
18-9254223-C-T |
c.958C>T |
p.Q320* |
Nonsense |
9/13 |
- |
2 |
18-9254226-ATCTGTAAATCCTTCTAGT-A |
c.961_978del |
p.S321_S326del |
InFrameDeletion |
9/13 |
- |
1 |
18-9254229-G-A |
c.964G>A |
p.V322I |
Missense |
9/13 |
- |
1 |
18-9254231-A-T |
c.966A>T |
p.V322= |
Synonymous |
9/13 |
- |
1 |
18-9254235-C-T |
c.970C>T |
p.P324S |
Missense |
9/13 |
- |
2 |
18-9254236-C-G |
c.971C>G |
p.P324R |
Missense |
9/13 |
- |
1 |
18-9254248-A-G |
c.983A>G |
p.D328G |
Missense |
9/13 |
- |
1 |
18-9254250-G-C |
c.985G>C |
p.E329Q |
Missense |
9/13 |
- |
2 |
18-9254250-G-T |
c.985G>T |
p.E329* |
Nonsense |
9/13 |
- |
2 |
18-9254252-A-G |
c.987A>G |
p.E329= |
Synonymous |
9/13 |
- |
1 |
18-9254256-A-G |
c.991A>G |
p.I331V |
Missense |
9/13 |
- |
1 |
18-9254261-C-T |
c.996C>T |
p.D332= |
Synonymous |
9/13 |
- |
1 |
18-9254264-T-C |
c.999T>C |
p.S333= |
Synonymous |
9/13 |
- |
1 |
18-9254265-G-C |
c.1000G>C |
p.E334Q |
Missense |
9/13 |
- |
1 |
18-9254269-C-A |
c.1004C>A |
p.T335K |
Missense |
9/13 |
- |
1 |
18-9254272-A-T |
c.1007A>T |
p.E336V |
Missense |
9/13 |
- |
1 |
18-9254273-G-C |
c.1008G>C |
p.E336D |
Missense |
9/13 |
- |
2 |
18-9254283-C-A |
c.1018C>A |
p.L340I |
Missense |
9/13 |
- |
1 |
18-9254283-C-T |
c.1018C>T |
p.L340F |
Missense |
9/13 |
- |
1 |
18-9254290-G-A |
c.1025G>A |
p.C342Y |
Missense |
9/13 |
- |
1 |
18-9254290-G-T |
c.1025G>T |
p.C342F |
Missense |
9/13 |
- |
1 |
18-9254292-G-A |
c.1027G>A |
p.E343K |
Missense |
9/13 |
- |
1 |
18-9254295-AG-CT |
c.1030_1031inv |
p.S344L |
Missense |
9/13 |
- |
1 |
18-9254296-G-A |
c.1031G>A |
p.S344N |
Missense |
9/13 |
- |
2 |
18-9254298-A-C |
c.1033A>C |
p.K345Q |
Missense |
9/13 |
- |
1 |
18-9254299-A-T |
c.1034A>T |
p.K345I |
Missense |
9/13 |
- |
1 |
18-9254294-AAGTAAACAGATACTTCCC-A |
c.1036_1053del |
p.Q346_K351del |
InFrameDeletion |
9/13 |
- |
1 |
18-9254301-C-T |
c.1036C>T |
p.Q346* |
Nonsense |
9/13 |
- |
1 |
18-9254323-C-T |
c.1058C>T |
p.P353L |
Missense |
9/13 |
- |
1 |
18-9254325-C-T |
c.1060C>T |
p.L354F |
Missense |
9/13 |
- |
1 |
18-9254329-C-T |
c.1064C>T |
p.P355L |
Missense |
9/13 |
- |
2 |
18-9254340-G-A |
c.1075G>A |
p.D359N |
Missense |
9/13 |
- |
2 |
18-9254351-G-C |
c.1086G>C |
p.E362D |
Missense |
9/13 |
- |
1 |
18-9254355-A-C |
c.1090A>C |
p.K364Q |
Missense |
9/13 |
- |
1 |
18-9254358-G-C |
c.1093G>C |
p.D365H |
Missense |
9/13 |
- |
1 |
18-9254358-G-T |
c.1093G>T |
p.D365Y |
Missense |
9/13 |
- |
3 |
18-9254361-G-A |
c.1096G>A |
p.D366N |
Missense |
9/13 |
- |
1 |
18-9254357-AGAT-A |
c.1104_1106del |
p.D368del |
InFrameDeletion |
9/13 |
- |
1 |
18-9254369-T-A |
c.1104T>A |
p.D368E |
Missense |
9/13 |
- |
2 |
18-9254369-T-G |
c.1104T>G |
p.D368E |
Missense |
9/13 |
- |
1 |
18-9254372-A-C |
c.1107A>C |
p.E369D |
Missense |
9/13 |
- |
1 |
18-9254372-A-T |
c.1107A>T |
p.E369D |
Missense |
9/13 |
- |
1 |
18-9254373-G-A |
c.1108G>A |
p.E370K |
Missense |
9/13 |
- |
2 |
18-9254383-A-G |
c.1118A>G |
p.K373R |
Missense |
9/13 |
- |
2 |
18-9254387-G-C |
c.1122G>C |
p.M374I |
Missense |
9/13 |
- |
1 |
18-9254394-G-A |
c.1129G>A |
p.D377N |
Missense |
9/13 |
- |
1 |
18-9254399-G-A |
c.1134G>A |
p.R378= |
Synonymous |
9/13 |
- |
1 |
18-9254400-C-A |
c.1135C>A |
p.H379N |
Missense |
9/13 |
- |
1 |
18-9254400-C-G |
c.1135C>G |
p.H379D |
Missense |
9/13 |
- |
1 |
18-9254404-T-C |
c.1139T>C |
p.I380T |
Missense |
9/13 |
- |
1 |
18-9254410-G-A |
c.1145G>A |
p.R382K |
Missense |
9/13 |
- |
1 |
18-9254418-C-T |
c.1153C>T |
p.Q385* |
Nonsense |
9/13 |
- |
1 |
18-9254421-C-T |
c.1156C>T |
p.R386* |
Nonsense |
9/13 |
- |
1 |
18-9254422-G-A |
c.1157G>A |
p.R386Q |
Missense |
9/13 |
- |
3 |
18-9254422-GA-G |
c.1161del |
p.E388Kfs*74 |
Frameshift |
9/13 |
- |
1 |
18-9254426-A-AT |
c.1161_1162insT |
p.E388* |
Nonsense |
9/13 |
- |
1 |
18-9254427-AG-A |
c.1162del |
p.E388Kfs*74 |
Frameshift |
9/13 |
- |
1 |
18-9254427-G-T |
c.1162G>T |
p.E388* |
Nonsense |
9/13 |
- |
3 |
18-9254429-AAATG-A |
c.1167_1170del |
p.E390Lfs*71 |
Frameshift |
9/13 |
- |
1 |
18-9254435-A-C |
c.1170A>C |
p.E390D |
Missense |
9/13 |
- |
1 |
18-9254435-A-G |
c.1170A>G |
p.E390= |
Synonymous |
9/13 |
- |
1 |
18-9254436-ACCT-A |
c.1171_1173del |
p.P391del |
InFrameDeletion |
9/13 |
- |
1 |
18-9254436-C-T |
c.1171C>T |
p.P391S |
Missense |
9/13 |
- |
2 |
18-9254439-G-C |
c.1174G>C |
p.E392Q |
Missense |
9/13 |
- |
1 |
18-9254441-A-C |
c.1176A>C |
p.E392D |
Missense |
9/13 |
- |
1 |
18-9254441-A-T |
c.1176A>T |
p.E392D |
Missense |
9/13 |
- |
1 |
18-9254445-G-A |
c.1180G>A |
p.E394K |
Missense |
9/13 |
- |
2 |
18-9254447-A-C |
c.1182A>C |
p.E394D |
Missense |
9/13 |
- |
1 |
18-9254450-A-C |
c.1185A>C |
p.K395N |
Missense |
9/13 |
- |
1 |
18-9254450-A-T |
c.1185A>T |
p.K395N |
Missense |
9/13 |
- |
1 |
18-9254451-A-G |
c.1186A>G |
p.T396A |
Missense |
9/13 |
- |
1 |
18-9254452-C-T |
c.1187C>T |
p.T396I |
Missense |
9/13 |
- |
1 |
18-9254457-T-G |
c.1192T>G |
p.L398V |
Missense |
9/13 |
- |
1 |
18-9254458-T-A |
c.1193T>A |
p.L398* |
Nonsense |
9/13 |
- |
1 |
18-9254462-T-C |
c.1197T>C |
p.F399= |
Synonymous |
9/13 |
- |
1 |
18-9254463-G-A |
c.1198G>A |
p.A400T |
Missense |
9/13 |
- |
1 |
18-9254463-G-C |
c.1198G>C |
p.A400P |
Missense |
9/13 |
- |
2 |
18-9254472-G-A |
c.1207G>A |
p.E403K |
Missense |
9/13 |
- |
1 |
18-9254473-A-T |
c.1208A>T |
p.E403V |
Missense |
9/13 |
- |
1 |
18-9254480-C-A |
c.1215C>A |
p.A405= |
Synonymous |
9/13 |
- |
1 |
18-9254480-C-G |
c.1215C>G |
p.A405= |
Synonymous |
9/13 |
- |
1 |
18-9254480-C-T |
c.1215C>T |
p.A405= |
Synonymous |
9/13 |
- |
1 |
18-9254483-C-T |
c.1218C>T |
p.F406= |
Synonymous |
9/13 |
- |
1 |
18-9254486-T-C |
c.1221T>C |
p.Y407= |
Synonymous |
9/13 |
- |
1 |
18-9254494-C-T |
c.1229C>T |
p.S410L |
Missense |
9/13 |
- |
9 |
18-9254503-G-A |
c.1238G>A |
p.S413N |
Missense |
9/13 |
- |
1 |
18-9254503-G-GT |
c.1239dup |
p.K414* |
Nonsense |
9/13 |
- |
1 |
18-9254507-A-G |
c.1242A>G |
p.K414= |
Synonymous |
9/13 |
- |
1 |
18-9254509-A-C |
c.1244A>C |
p.K415T |
Missense |
9/13 |
- |
1 |
18-9254510-A-C |
c.1245A>C |
p.K415N |
Missense |
9/13 |
- |
1 |
18-9254510-A-T |
c.1245A>T |
p.K415N |
Missense |
9/13 |
- |
1 |
18-9254507-AAAAC-A |
c.1246_1249del |
p.Q416Sfs*45 |
Frameshift |
9/13 |
- |
1 |
18-9254511-C-A |
c.1246C>A |
p.Q416K |
Missense |
9/13 |
- |
2 |
18-9254517-C-T |
c.1252C>T |
p.P418S |
Missense |
9/13 |
- |
1 |
18-9254521-C-G |
c.1256C>G |
p.S419C |
Missense |
9/13 |
- |
1 |
18-9254523-AG-CA |
c.1258_1259delinsCA |
p.R420Q |
Missense |
9/13 |
- |
1 |
18-9254527-T-A |
c.1262T>A |
p.V421D |
Missense |
9/13 |
- |
1 |
18-9254528-C-A |
c.1263C>A |
p.V421= |
Synonymous |
9/13 |
- |
3 |
18-9254528-C-G |
c.1263C>G |
p.V421= |
Synonymous |
9/13 |
- |
3 |
18-9254528-C-T |
c.1263C>T |
p.V421= |
Synonymous |
9/13 |
- |
2 |
18-9254532-T-A |
c.1267T>A |
p.Y423N |
Missense |
9/13 |
- |
1 |
18-9254532-T-C |
c.1267T>C |
p.Y423H |
Missense |
9/13 |
- |
1 |
18-9254535-TCA-AAC |
c.1270_1272delinsAAC |
p.S424N |
Missense |
9/13 |
- |
1 |
18-9254553-G-C |
c.1288G>C |
p.D430H |
Missense |
9/13 |
- |
2 |
18-9254567-T-A |
c.1302T>A |
p.L434= |
Synonymous |
9/13 |
- |
1 |
18-9254567-T-C |
c.1302T>C |
p.L434= |
Synonymous |
9/13 |
- |
1 |
18-9254567-T-G |
c.1302T>G |
p.L434= |
Synonymous |
9/13 |
- |
1 |
18-9254568-C-T |
c.1303C>T |
p.Q435* |
Nonsense |
9/13 |
- |
1 |
18-9254573-TA-T |
c.1313del |
p.K438Rfs*24 |
Frameshift |
9/13 |
- |
1 |
18-9254578-A-C |
c.1313A>C |
p.K438T |
Missense |
9/13 |
- |
1 |
18-9254579-G-C |
c.1314G>C |
p.K438N |
Missense |
9/13 |
- |
2 |
18-9254579-G-T |
c.1314G>T |
p.K438N |
Missense |
9/13 |
- |
3 |
18-9254580-A-G |
c.1315A>G |
p.I439V |
Missense |
9/13 |
- |
1 |
18-9254580-A-T |
c.1315A>T |
p.I439F |
Missense |
9/13 |
- |
1 |
18-9254582-T-A |
c.1317T>A |
p.I439= |
Synonymous |
9/13 |
- |
1 |
18-9254582-T-C |
c.1317T>C |
p.I439= |
Synonymous |
9/13 |
- |
1 |
18-9254583-TC-CT |
c.1318_1319delinsCT |
p.S440L |
Missense |
9/13 |
- |
2 |
18-9254584-C-G |
c.1319C>G |
p.S440C |
Missense |
9/13 |
- |
1 |
18-9254588-T-A |
c.1323T>A |
p.T441= |
Synonymous |
9/13 |
- |
1 |
18-9254588-T-C |
c.1323T>C |
p.T441= |
Synonymous |
9/13 |
- |
1 |
18-9254588-T-G |
c.1323T>G |
p.T441= |
Synonymous |
9/13 |
- |
1 |
18-9254596-C-A |
c.1331C>A |
p.S444Y |
Missense |
9/13 |
- |
1 |
18-9254596-C-T |
c.1331C>T |
p.S444F |
Missense |
9/13 |
- |
1 |
18-9254598-G-A |
c.1333G>A |
p.V445I |
Missense |
9/13 |
- |
2 |
18-9254614-C-A |
c.1349C>A |
p.S450* |
Nonsense |
9/13 |
- |
1 |
18-9254619-TC-AA |
c.1354_1355delinsAA |
p.S452N |
Missense |
9/13 |
- |
1 |
18-9254627-G-A |
c.1362G>A |
p.M454I |
Missense |
9/13 |
- |
1 |
18-9254627-G-C |
c.1362G>C |
p.M454I |
Missense |
9/13 |
- |
1 |
18-9254627-G-T |
c.1362G>T |
p.M454I |
Missense |
9/13 |
- |
2 |
18-9254628-C-G |
c.1363C>G |
p.Q455E |
Missense |
9/13 |
- |
2 |
18-9254632-C-T |
c.1367C>T |
p.T456I |
Missense |
9/13 |
- |
1 |
18-9254637-A-C |
c.1372A>C |
p.K458Q |
Missense |
9/13 |
- |
1 |
18-9254638-A-AG |
c.1375dup |
p.E459Gfs*7 |
Frameshift |
9/13 |
- |
1 |
18-9254646-G-GT |
c.1382dup |
p.V462Sfs*4 |
Frameshift |
9/13 |
- |
1 |
18-9254647-T-A |
c.1382T>A |
p.V461E |
Missense |
9/13 |
- |
2 |
18-9254649-G-A |
c.1384G>A |
p.V462I |
Missense |
9/13 |
- |
1 |
18-9254653-C-T |
c.1388C>T |
p.S463L |
Missense |
9/13 |
- |
4 |
18-9254655-G-C |
c.1390G>C |
p.G464R |
Missense |
9/13 |
- |
1 |
18-9254658-G-A |
c.1393G>A |
p.E465K |
Missense |
9/13 |
- |
1 |
18-9254661-C-T |
c.1396C>T |
p.H466Y |
Missense |
9/13 |
- |
1 |
18-9254666-A-C |
c.1401A>C |
p.K467N |
Missense |
9/13 |
- |
2 |
18-9254666-A-T |
c.1401A>T |
p.K467N |
Missense |
9/13 |
- |
1 |
18-9254672-A-G |
c.1407A>G |
p.K469= |
Synonymous |
9/13 |
- |
1 |
18-9254685-AGA-CAT |
c.1420_1422delinsCAT |
p.R474H |
Missense |
9/13 |
- |
1 |
18-9254685-AGA-TGT |
c.1420_1422delinsTGT |
p.R474C |
Missense |
9/13 |
- |
1 |
18-9254685-A-C |
c.1420A>C |
p.R474= |
Synonymous |
9/13 |
- |
1 |
18-9254687-A-G |
c.1422A>G |
p.R474= |
Synonymous |
9/13 |
- |
3 |
18-9254691-T-A |
c.1426T>A |
p.L476M |
Missense |
9/13 |
- |
1 |
18-9254691-T-C |
c.1426T>C |
p.L476= |
Synonymous |
9/13 |
- |
1 |
18-9254692-T-G |
c.1427T>G |
p.L476W |
Missense |
9/13 |
- |
2 |
18-9254693-G-A |
c.1428G>A |
p.L476= |
Synonymous |
9/13 |
- |
2 |
18-9254693-G-C |
c.1428G>C |
p.L476F |
Missense |
9/13 |
- |
1 |
18-9254696-A-C |
c.1431A>C |
p.K477N |
Missense |
9/13 |
- |
1 |
18-9254706-A-C |
c.1441A>C |
p.K481Q |
Missense |
9/13 |
- |
1 |
18-9254702-GAATAAA-G |
c.1444_1449del |
p.N482_K483del |
InFrameDeletion |
9/13 |
- |
1 |
18-9254712-A-G |
c.1447A>G |
p.K483E |
Missense |
9/13 |
- |
1 |
18-9254713-A-T |
c.1448A>T |
p.K483I |
Missense |
9/13 |
- |
1 |
18-9254714-A-G |
c.1449A>G |
p.K483= |
Synonymous |
9/13 |
- |
1 |
18-9254715-G-A |
c.1450G>A |
p.E484K |
Missense |
9/13 |
- |
1 |
18-9254720-C-T |
c.1455C>T |
p.N485= |
Synonymous |
9/13 |
- |
1 |
18-9254721-C-G |
c.1456C>G |
p.Q486E |
Missense |
9/13 |
- |
1 |
18-9254721-C-T |
c.1456C>T |
p.Q486* |
Nonsense |
9/13 |
- |
1 |
18-9254724-G-GAC |
c.1460_1461insCA |
p.E487Dfs*3 |
Frameshift |
9/13 |
- |
1 |
18-9254729-A-G |
c.1464A>G |
p.L488= |
Synonymous |
9/13 |
- |
1 |
18-9254732-G-T |
c.1467G>T |
p.K489N |
Missense |
9/13 |
- |
1 |
18-9254740-A-C |
c.1475A>C |
p.K492T |
Missense |
9/13 |
- |
1 |
18-9254742-G-T |
c.1477G>T |
p.E493* |
Nonsense |
9/13 |
- |
1 |
18-9254746-G-T |
c.1481G>T |
p.G494V |
Missense |
9/13 |
- |
2 |
18-9254751-G-A |
c.1486G>A |
p.E496K |
Missense |
9/13 |
- |
2 |
18-9254757-A-T |
c.1492A>T |
p.T498S |
Missense |
9/13 |
- |
1 |
18-9254766-A-G |
c.1501A>G |
p.T501A |
Missense |
9/13 |
- |
1 |
18-9254768-A-G |
c.1503A>G |
p.T501= |
Synonymous |
9/13 |
- |
1 |
18-9254771-C-CT |
c.1508dup |
p.L503Ffs*20 |
Frameshift |
9/13 |
- |
1 |
18-9254776-C-T |
c.1511C>T |
p.T504I |
Missense |
9/13 |
- |
1 |
18-9254778-G-A |
c.1513G>A |
p.V505I |
Missense |
9/13 |
- |
2 |
18-9254778-G-C |
c.1513G>C |
p.V505L |
Missense |
9/13 |
- |
1 |
18-9254778-G-T |
c.1513G>T |
p.V505L |
Missense |
9/13 |
- |
1 |
18-9254778-GTA-ATG |
c.1513_1515delinsATG |
p.V505M |
Missense |
9/13 |
- |
1 |
18-9254779-T-C |
c.1514T>C |
p.V505A |
Missense |
9/13 |
- |
1 |
18-9254785-C-T |
c.1520C>T |
p.T507I |
Missense |
9/13 |
- |
10 |
18-9254787-G-A |
c.1522G>A |
p.G508R |
Missense |
9/13 |
- |
1 |
18-9254788-G-C |
c.1523G>C |
p.G508A |
Missense |
9/13 |
- |
1 |
18-9254794-A-G |
c.1529A>G |
p.D510G |
Missense |
9/13 |
- |
1 |
18-9254800-C-T |
c.1535C>T |
p.S512L |
Missense |
9/13 |
- |
1 |
18-9254801-A-C |
c.1536A>C |
p.S512= |
Synonymous |
9/13 |
- |
1 |
18-9254801-A-G |
c.1536A>G |
p.S512= |
Synonymous |
9/13 |
- |
1 |
18-9254801-A-T |
c.1536A>T |
p.S512= |
Synonymous |
9/13 |
- |
1 |
18-9254806-A-G |
c.1541A>G |
p.K514R |
Missense |
9/13 |
- |
1 |
18-9254807-G-T |
c.1542G>T |
p.K514N |
Missense |
9/13 |
- |
1 |
18-9254809-C-T |
c.1544C>T |
p.T515I |
Missense |
9/13 |
- |
1 |
18-9254812-G-A |
c.1547G>A |
p.R516K |
Missense |
9/13 |
- |
3 |
18-9254818-A-G |
c.1553A>G |
p.E518G |
Missense |
9/13 |
- |
1 |
18-9254818-A-T |
c.1553A>T |
p.E518V |
Missense |
9/13 |
- |
1 |
18-9254822-G-GT |
c.1557_1558insT |
p.N520* |
Nonsense |
9/13 |
- |
1 |
18-9254829-AG-CA |
c.1564_1565delinsCA |
p.R522Q |
Missense |
9/13 |
- |
1 |
18-9254829-AGG-CAT |
c.1564_1566delinsCAT |
p.R522H |
Missense |
9/13 |
- |
1 |
18-9254829-A-T |
c.1564A>T |
p.R522W |
Missense |
9/13 |
- |
1 |
18-9254830-G-A |
c.1565G>A |
p.R522K |
Missense |
9/13 |
- |
1 |
18-9254831-G-C |
c.1566G>C |
p.R522S |
Missense |
9/13 |
- |
1 |
18-9254831-G-T |
c.1566G>T |
p.R522S |
Missense |
9/13 |
- |
1 |
18-9254833-A-G |
c.1568A>G |
p.K523R |
Missense |
9/13 |
- |
1 |
18-9254836-C-A |
c.1571C>A |
p.S524Y |
Missense |
9/13 |
- |
1 |
18-9254836-C-G |
c.1571C>G |
p.S524C |
Missense |
9/13 |
- |
1 |
18-9254836-C-T |
c.1571C>T |
p.S524F |
Missense |
9/13 |
- |
2 |
18-9254838-T-C |
c.1573T>C |
p.F525L |
Missense |
9/13 |
- |
1 |
18-9254840-T-A |
c.1575T>A |
p.F525L |
Missense |
9/13 |
- |
1 |
18-9254840-T-G |
c.1575T>G |
p.F525L |
Missense |
9/13 |
- |
1 |
18-9254841-A-T |
c.1576A>T |
p.S526C |
Missense |
9/13 |
- |
1 |
18-9254843-C-A |
c.1578C>A |
p.S526R |
Missense |
9/13 |
- |
1 |
18-9254845-C-T |
c.1580C>T |
p.P527L |
Missense |
9/13 |
- |
1 |
18-9254850-G-A |
c.1585G>A |
p.D529N |
Missense |
9/13 |
- |
2 |
18-9254851-A-G |
c.1586A>G |
p.D529G |
Missense |
9/13 |
- |
1 |
18-9254856-A-G |
c.1591A>G |
p.T531A |
Missense |
9/13 |
- |
1 |
18-9254856-A-T |
c.1591A>T |
p.T531S |
Missense |
9/13 |
- |
3 |
18-9254857-C-G |
c.1592C>G |
p.T531S |
Missense |
9/13 |
- |
11 |
18-9254858-TTCA-T |
c.1595_1597del |
p.S532del |
InFrameDeletion |
9/13 |
- |
1 |
18-9254860-CA-GT |
c.1595_1596delinsGT |
p.S532C |
Missense |
9/13 |
- |
1 |
18-9254860-C-T |
c.1595C>T |
p.S532L |
Missense |
9/13 |
- |
1 |
18-9254867-T-C |
c.1602T>C |
p.H534= |
Synonymous |
9/13 |
- |
1 |
18-9254866-AT-A |
c.1604del |
p.L535Yfs*16 |
Frameshift |
9/13 |
- |
1 |
18-9254875-A-G |
c.1610A>G |
p.H537R |
Missense |
9/13 |
- |
6 |
18-9254876-T-C |
c.1611T>C |
p.H537= |
Synonymous |
9/13 |
- |
1 |
18-9254878-T-C |
c.1613T>C |
p.I538T |
Missense |
9/13 |
- |
1 |
18-9254883-A-T |
c.1618A>T |
p.T540S |
Missense |
9/13 |
- |
2 |
18-9254884-C-G |
c.1619C>G |
p.T540S |
Missense |
9/13 |
- |
1 |
18-9254890-A-T |
c.1625A>T |
p.K542I |
Missense |
9/13 |
- |
1 |
18-9254891-A-C |
c.1626A>C |
p.K542N |
Missense |
9/13 |
- |
1 |
18-9254891-A-T |
c.1626A>T |
p.K542N |
Missense |
9/13 |
- |
1 |
18-9254895-C-T |
c.1630C>T |
p.P544S |
Missense |
9/13 |
- |
3 |
18-9254901-C-G |
c.1636C>G |
p.H546D |
Missense |
9/13 |
- |
1 |
18-9254906-T-A |
c.1641T>A |
p.S547= |
Synonymous |
9/13 |
- |
1 |
18-9254906-T-C |
c.1641T>C |
p.S547= |
Synonymous |
9/13 |
- |
2 |
18-9254906-T-G |
c.1641T>G |
p.S547= |
Synonymous |
9/13 |
- |
1 |
18-9254910-GGA-AAC |
c.1645_1647delinsAAC |
p.G549N |
Missense |
9/13 |
- |
1 |
18-9254917-G-A |
c.1652G>A |
p.S551N |
Missense |
9/13 |
- |
1 |
18-9254919-G-A |
c.1654G>A |
p.E552K |
Missense |
9/13 |
- |
1 |
18-9254924-A-G |
c.1659A>G |
p.K553= |
Synonymous |
9/13 |
- |
1 |
18-9254928-GTCA-G |
c.1663_1665del |
p.S555del |
InFrameDeletion |
9/13 |
- |
1 |
18-9254935-CA-AT |
c.1670_1671delinsAT |
p.P557H |
Missense |
9/13 |
- |
1 |
18-9254937-C-G |
c.1672C>G |
p.L558V |
Missense |
9/13 |
- |
1 |
18-9254943-C-T |
c.1678C>T |
p.Q560* |
Nonsense |
9/13 |
- |
1 |
18-9254946-G-A |
c.1681G>A |
p.E561K |
Missense |
9/13 |
- |
2 |
18-9254952-A-G |
c.1687A>G |
p.T563A |
Missense |
9/13 |
- |
1 |
18-9254956-A-C |
c.1691A>C |
p.K564T |
Missense |
9/13 |
- |
1 |
18-9254958-A-G |
c.1693A>G |
p.T565A |
Missense |
9/13 |
- |
1 |
18-9254959-C-G |
c.1694C>G |
p.T565R |
Missense |
9/13 |
- |
1 |
18-9254960-A-C |
c.1695A>C |
p.T565= |
Synonymous |
9/13 |
- |
1 |
18-9254960-A-G |
c.1695A>G |
p.T565= |
Synonymous |
9/13 |
- |
1 |
18-9254960-A-T |
c.1695A>T |
p.T565= |
Synonymous |
9/13 |
- |
1 |
18-9254960-A-AT |
c.1696dup |
p.C566Lfs*8 |
Frameshift |
9/13 |
- |
1 |
18-9254964-T-A |
c.1699T>A |
p.L567I |
Missense |
9/13 |
- |
1 |
18-9254968-C-A |
c.1703C>A |
p.S568* |
Nonsense |
9/13 |
- |
1 |
18-9254968-C-G |
c.1703C>G |
p.S568* |
Nonsense |
9/13 |
- |
1 |
18-9254968-C-T |
c.1703C>T |
p.S568L |
Missense |
9/13 |
- |
3 |
18-9254974-G-A |
c.1709G>A |
p.G570E |
Missense |
9/13 |
- |
1 |
18-9254982-G-T |
c.1717G>T |
p.E573* |
Nonsense |
9/13 |
- |
1 |
18-9254983-A-G |
c.1718A>G |
p.E573G |
Missense |
9/13 |
- |
1 |
18-9254989-C-T |
c.1724C>T |
p.S575L |
Missense |
9/13 |
- |
1 |
18-9254997-C-T |
c.1732C>T |
p.P578S |
Missense |
9/13 |
- |
1 |
18-9255001-GA-G |
c.1736del |
p.D579Vfs*19 |
Frameshift |
9/13 |
- |
1 |
18-9255003-C-A |
c.1738C>A |
p.L580I |
Missense |
9/13 |
- |
1 |
18-9255003-C-G |
c.1738C>G |
p.L580V |
Missense |
9/13 |
- |
3 |
18-9255005-T-A |
c.1740T>A |
p.L580= |
Synonymous |
9/13 |
- |
1 |
18-9255005-T-C |
c.1740T>C |
p.L580= |
Synonymous |
9/13 |
- |
1 |
18-9255005-T-G |
c.1740T>G |
p.L580= |
Synonymous |
9/13 |
- |
1 |
18-9255006-GT-AC |
c.1741_1742inv |
p.V581T |
Missense |
9/13 |
- |
1 |
18-9255008-T-C |
c.1743T>C |
p.V581= |
Synonymous |
9/13 |
- |
2 |
18-9255009-C-G |
c.1744C>G |
p.R582G |
Missense |
9/13 |
- |
3 |
18-9255009-C-T |
c.1744C>T |
p.R582W |
Missense |
9/13 |
- |
5 |
18-9255010-G-A |
c.1745G>A |
p.R582Q |
Missense |
9/13 |
- |
1 |
18-9255011-G-A |
c.1746G>A |
p.R582= |
Synonymous |
9/13 |
- |
1 |
18-9255014-T-C |
c.1749T>C |
p.Y583= |
Synonymous |
9/13 |
- |
1 |
18-9255014-T-G |
c.1749T>G |
p.Y583* |
Nonsense |
9/13 |
- |
1 |
18-9255015-G-A |
c.1750G>A |
p.D584N |
Missense |
9/13 |
- |
1 |
18-9255015-G-T |
c.1750G>T |
p.D584Y |
Missense |
9/13 |
- |
1 |
18-9255021-A-C |
c.1756A>C |
p.T586P |
Missense |
9/13 |
- |
1 |
18-9255021-A-G |
c.1756A>G |
p.T586A |
Missense |
9/13 |
- |
1 |
18-9255024-G-A |
c.1759G>A |
p.E587K |
Missense |
9/13 |
- |
1 |
18-9255024-G-C |
c.1759G>C |
p.E587Q |
Missense |
9/13 |
- |
1 |
18-9255030-G-GT |
c.1765_1766insT |
p.E589Vfs*13 |
Frameshift |
9/13 |
- |
1 |
18-9255031-A-G |
c.1766A>G |
p.E589G |
Missense |
9/13 |
- |
1 |
18-9255033-T-G |
c.1768T>G |
p.F590V |
Missense |
9/13 |
- |
1 |
18-9255036-TTG-ATC |
c.1771_1773delinsATC |
p.L591I |
Missense |
9/13 |
- |
1 |
18-9255045-A-G |
c.1780A>G |
p.S594G |
Missense |
9/13 |
- |
1 |
18-9255050-A-AT |
c.1785_1786insT |
p.S596* |
Nonsense |
9/13 |
- |
1 |
18-9255050-CAA-C |
c.1785_1786del |
p.S596Cfs*5 |
Frameshift |
9/13 |
- |
2 |
18-9255051-AAG-A |
c.1786_1787del |
p.S596Cfs*5 |
Frameshift |
9/13 |
- |
2 |
18-9255051-A-T |
c.1786A>T |
p.S596C |
Missense |
9/13 |
- |
1 |
18-9255052-G-A |
c.1787G>A |
p.S596N |
Missense |
9/13 |
- |
1 |
18-9255064-G-A |
c.1799G>A |
p.C600Y |
Missense |
9/13 |
- |
1 |
18-9255064-G-GT |
c.1800dup |
p.K601* |
Nonsense |
9/13 |
- |
1 |
18-9255069-C-G |
c.1804C>G |
p.H602D |
Missense |
9/13 |
- |
1 |
18-9255069-C-CA |
c.1805dup |
p.H602Qfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9255070-CA-C |
c.1805del |
p.H602Lfs*13 |
Frameshift |
9/13 |
- |
1 |
18-9255072-A-G |
c.1807A>G |
p.K603E |
Missense |
9/13 |
- |
1 |
18-9255075-G-A |
c.1810G>A |
p.E604K |
Missense |
9/13 |
- |
1 |
18-9255081-A-G |
c.1816A>G |
p.S606G |
Missense |
9/13 |
- |
2 |
18-9255082-G-A |
c.1817G>A |
p.S606N |
Missense |
9/13 |
- |
1 |
18-9255082-G-T |
c.1817G>T |
p.S606I |
Missense |
9/13 |
- |
1 |
18-9255088-A-G |
c.1823A>G |
p.H608R |
Missense |
9/13 |
- |
1 |
18-9255089-T-A |
c.1824T>A |
p.H608Q |
Missense |
9/13 |
- |
1 |
18-9255089-T-G |
c.1824T>G |
p.H608Q |
Missense |
9/13 |
- |
1 |
18-9255091-A-C |
c.1826A>C |
p.Q609P |
Missense |
9/13 |
- |
1 |
18-9255092-G-C |
c.1827G>C |
p.Q609H |
Missense |
9/13 |
- |
3 |
18-9255092-G-T |
c.1827G>T |
p.Q609H |
Missense |
9/13 |
- |
2 |
18-9255095-A-AT |
c.1830_1831insT |
p.D611* |
Nonsense |
9/13 |
- |
1 |
18-9255101-C-T |
c.1836C>T |
p.F612= |
Synonymous |
9/13 |
- |
2 |
18-9255103-A-T |
c.1838A>T |
p.H613L |
Missense |
9/13 |
- |
3 |
18-9255105-T-A |
c.1840T>A |
p.L614I |
Missense |
9/13 |
- |
1 |
18-9255107-A-C |
c.1842A>C |
p.L614F |
Missense |
9/13 |
- |
1 |
18-9255107-A-T |
c.1842A>T |
p.L614F |
Missense |
9/13 |
- |
1 |
18-9255110-A-C |
c.1845A>C |
p.E615D |
Missense |
9/13 |
- |
1 |
18-9255110-A-G |
c.1845A>G |
p.E615= |
Synonymous |
9/13 |
- |
1 |
18-9255110-A-T |
c.1845A>T |
p.E615D |
Missense |
9/13 |
- |
1 |
18-9255119-A-C |
c.1854A>C |
p.E618D |
Missense |
9/13 |
- |
1 |
18-9255123-T-G |
c.1858T>G |
p.S620A |
Missense |
9/13 |
- |
1 |
18-9255124-C-T |
c.1859C>T |
p.S620L |
Missense |
9/13 |
- |
5 |
18-9255137-A-T |
c.1872A>T |
p.I624= |
Synonymous |
9/13 |
- |
1 |
18-9255136-T-TA |
c.1874dup |
p.D626Gfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9255140-G-A |
c.1875G>A |
p.K625= |
Synonymous |
9/13 |
- |
1 |
18-9255144-G-A |
c.1879G>A |
p.E627K |
Missense |
9/13 |
- |
6 |
18-9255150-C-T |
c.1885C>T |
p.H629Y |
Missense |
9/13 |
- |
5 |
18-9255150-TC-T |
c.1885del |
p.H629Ifs*12 |
Frameshift |
9/13 |
- |
1 |
18-9255152-T-C |
c.1887T>C |
p.H629= |
Synonymous |
9/13 |
- |
1 |
18-9255152-T-G |
c.1887T>G |
p.H629Q |
Missense |
9/13 |
- |
1 |
18-9255154-G-A |
c.1889G>A |
p.S630N |
Missense |
9/13 |
- |
1 |
18-9255155-T-C |
c.1890T>C |
p.S630= |
Synonymous |
9/13 |
- |
1 |
18-9255159-A-G |
c.1894A>G |
p.T632A |
Missense |
9/13 |
- |
1 |
18-9255172-C-A |
c.1907C>A |
p.S636* |
Nonsense |
9/13 |
- |
1 |
18-9255172-C-G |
c.1907C>G |
p.S636* |
Nonsense |
9/13 |
- |
1 |
18-9255172-C-T |
c.1907C>T |
p.S636L |
Missense |
9/13 |
- |
3 |
18-9255174-G-C |
c.1909G>C |
p.D637H |
Missense |
9/13 |
- |
1 |
18-9255178-G-T |
c.1913G>T |
p.C638F |
Missense |
9/13 |
- |
1 |
18-9255181-CACTG-C |
c.1918_1921del |
p.L640Kfs*10 |
Frameshift |
9/13 |
- |
1 |
18-9255184-T-A |
c.1919T>A |
p.L640Q |
Missense |
9/13 |
- |
1 |
18-9255186-A-T |
c.1921A>T |
p.K641* |
Nonsense |
9/13 |
- |
1 |
18-9255187-A-G |
c.1922A>G |
p.K641R |
Missense |
9/13 |
- |
1 |
18-9255190-A-C |
c.1925A>C |
p.K642T |
Missense |
9/13 |
- |
1 |
18-9255192-A-G |
c.1927A>G |
p.M643V |
Missense |
9/13 |
- |
1 |
18-9255193-AT-A |
c.1928del |
p.M643Rfs*8 |
Frameshift |
9/13 |
- |
1 |
18-9255194-G-A |
c.1929G>A |
p.M643I |
Missense |
9/13 |
- |
1 |
18-9255194-G-C |
c.1929G>C |
p.M643I |
Missense |
9/13 |
- |
1 |
18-9255194-G-T |
c.1929G>T |
p.M643I |
Missense |
9/13 |
- |
1 |
18-9255199-A-T |
c.1934A>T |
p.K645I |
Missense |
9/13 |
- |
1 |
18-9255205-G-A |
c.1940G>A |
p.G647D |
Missense |
9/13 |
- |
2 |
18-9255213-T-G |
c.1948T>G |
p.L650V |
Missense |
9/13 |
- |
1 |
18-9255216-A-G |
c.1951A>G |
p.K651E |
Missense |
9/13 |
- |
2 |
18-9255218-A-G |
c.1953A>G |
p.K651= |
Synonymous |
9/13 |
- |
1 |
18-9255219-A-G |
c.1954A>G |
p.K652E |
Missense |
9/13 |
- |
1 |
18-9255220-A-G |
c.1955A>G |
p.K652R |
Missense |
9/13 |
- |
2 |
18-9255214-TA-T |
c.1956del |
p.K652Nfs*4 |
Frameshift |
9/13 |
- |
2 |
18-9255214-T-TA |
c.1956dup |
p.H653Tfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9255222-C-A |
c.1957C>A |
p.H653N |
Missense |
9/13 |
- |
1 |
18-9255222-CAT-C |
c.1959_1960del |
p.H653Qfs*5 |
Frameshift |
9/13 |
- |
1 |
18-9255224-T-C |
c.1959T>C |
p.H653= |
Synonymous |
9/13 |
- |
1 |
18-9255233-G-T |
c.1968G>T |
p.K656N |
Missense |
9/13 |
- |
1 |
18-9255235-A-G |
c.1970A>G |
p.H657R |
Missense |
9/13 |
- |
1 |
18-9255236-TAAAG-T |
c.1973_1976del |
p.K658Rfs*53 |
Frameshift |
9/13 |
- |
1 |
18-9255240-G-A |
c.1975G>A |
p.E659K |
Missense |
9/13 |
- |
1 |
18-9255242-G-A |
c.1977G>A |
p.E659= |
Synonymous |
9/13 |
- |
2 |
18-9255238-AAG-A |
c.1978_1979del |
p.R660Gfs*6 |
Frameshift |
9/13 |
- |
1 |
18-9255245-G-C |
c.1980G>C |
p.R660S |
Missense |
9/13 |
- |
1 |
18-9255245-G-T |
c.1980G>T |
p.R660S |
Missense |
9/13 |
- |
1 |
18-9255251-A-AT |
c.1986_1987insT |
p.E663* |
Nonsense |
9/13 |
- |
1 |
18-9255248-AAAAG-A |
c.1987_1990del |
p.E663Sfs*48 |
Frameshift |
9/13 |
- |
1 |
18-9255252-G-A |
c.1987G>A |
p.E663K |
Missense |
9/13 |
- |
1 |
18-9255247-AAAAAG-A |
c.1988_1992del |
p.E663Afs*2 |
Frameshift |
9/13 |
- |
1 |
18-9255253-A-G |
c.1988A>G |
p.E663G |
Missense |
9/13 |
- |
1 |
18-9255256-A-G |
c.1991A>G |
p.K664R |
Missense |
9/13 |
- |
1 |
18-9255259-A-T |
c.1994A>T |
p.H665L |
Missense |
9/13 |
- |
1 |
18-9255261-A-G |
c.1996A>G |
p.K666E |
Missense |
9/13 |
- |
1 |
18-9255260-TA-T |
c.2001del |
p.E668Kfs*44 |
Frameshift |
9/13 |
- |
3 |
18-9255266-A-AT |
c.2001_2002insT |
p.E668* |
Nonsense |
9/13 |
- |
1 |
18-9255267-G-T |
c.2002G>T |
p.E668* |
Nonsense |
9/13 |
- |
1 |
18-9255270-A-G |
c.2005A>G |
p.I669V |
Missense |
9/13 |
- |
1 |
18-9255279-G-A |
c.2014G>A |
p.E672K |
Missense |
9/13 |
- |
2 |
18-9255281-A-G |
c.2016A>G |
p.E672= |
Synonymous |
9/13 |
- |
1 |
18-9255293-C-A |
c.2028C>A |
p.Y676* |
Nonsense |
9/13 |
- |
2 |
18-9255293-C-G |
c.2028C>G |
p.Y676* |
Nonsense |
9/13 |
- |
2 |
18-9255300-A-T |
c.2035A>T |
p.K679* |
Nonsense |
9/13 |
- |
1 |
18-9255302-G-A |
c.2037G>A |
p.K679= |
Synonymous |
9/13 |
- |
1 |
18-9255309-G-C |
c.2044G>C |
p.A682P |
Missense |
9/13 |
- |
1 |
18-9255315-G-A |
c.2050G>A |
p.E684K |
Missense |
9/13 |
- |
2 |
18-9255315-G-C |
c.2050G>C |
p.E684Q |
Missense |
9/13 |
- |
2 |
18-9255323-G-A |
c.2058G>A |
p.Q686= |
Synonymous |
9/13 |
- |
1 |
18-9255325-G-A |
c.2060G>A |
p.R687K |
Missense |
9/13 |
- |
2 |
18-9255326-G-A |
c.2061G>A |
p.R687= |
Synonymous |
9/13 |
- |
1 |
18-9255333-G-A |
c.2068G>A |
p.E690K |
Missense |
9/13 |
- |
4 |
18-9255339-G-A |
c.2074G>A |
p.D692N |
Missense |
9/13 |
- |
2 |
18-9255339-G-C |
c.2074G>C |
p.D692H |
Missense |
9/13 |
- |
2 |
18-9255343-G-A |
c.2078G>A |
p.R693K |
Missense |
9/13 |
- |
1 |
18-9255354-A-G |
c.2089A>G |
p.K697E |
Missense |
9/13 |
- |
1 |
18-9255357-G-A |
c.2092G>A |
p.E698K |
Missense |
9/13 |
- |
2 |
18-9255357-G-C |
c.2092G>C |
p.E698Q |
Missense |
9/13 |
- |
3 |
18-9255358-GA-G |
c.2093del |
p.E698Gfs*14 |
Frameshift |
9/13 |
- |
1 |
18-9255355-AAG-A |
c.2094_2095del |
p.N699Ffs*3 |
Frameshift |
9/13 |
- |
1 |
18-9255359-G-C |
c.2094G>C |
p.E698D |
Missense |
9/13 |
- |
1 |
18-9255359-G-GT |
c.2094_2095insT |
p.N699* |
Nonsense |
9/13 |
- |
1 |
18-9255359-G-T |
c.2094G>T |
p.E698D |
Missense |
9/13 |
- |
3 |
18-9255363-T-G |
c.2098T>G |
p.F700V |
Missense |
9/13 |
- |
1 |
18-9255365-T-C |
c.2100T>C |
p.F700= |
Synonymous |
9/13 |
- |
1 |
18-9255366-T-C |
c.2101T>C |
p.F701L |
Missense |
9/13 |
- |
1 |
18-9255366-T-G |
c.2101T>G |
p.F701V |
Missense |
9/13 |
- |
1 |
18-9255368-T-A |
c.2103T>A |
p.F701L |
Missense |
9/13 |
- |
1 |
18-9255368-T-G |
c.2103T>G |
p.F701L |
Missense |
9/13 |
- |
1 |
18-9255361-A-AT |
c.2103dup |
p.K702* |
Nonsense |
9/13 |
- |
1 |
18-9255369-A-T |
c.2104A>T |
p.K702* |
Nonsense |
9/13 |
- |
4 |
18-9255369-TAAAAG-T |
c.2104_2108del |
p.K702* |
Frameshift |
9/13 |
- |
1 |
18-9255378-G-C |
c.2113G>C |
p.E705Q |
Missense |
9/13 |
- |
1 |
18-9255384-G-A |
c.2119G>A |
p.E707K |
Missense |
9/13 |
- |
1 |
18-9255384-G-C |
c.2119G>C |
p.E707Q |
Missense |
9/13 |
- |
1 |
18-9255386-A-G |
c.2121A>G |
p.E707= |
Synonymous |
9/13 |
- |
1 |
18-9255387-G-A |
c.2122G>A |
p.D708N |
Missense |
9/13 |
- |
1 |
18-9255389-T-A |
c.2124T>A |
p.D708E |
Missense |
9/13 |
- |
1 |
18-9255389-T-G |
c.2124T>G |
p.D708E |
Missense |
9/13 |
- |
1 |
18-9255390-C-T |
c.2125C>T |
p.L709F |
Missense |
9/13 |
- |
2 |
18-9255392-CTT-C |
c.2131_2132del |
p.L711Kfs*5 |
Frameshift |
9/13 |
- |
4 |
18-9255402-A-G |
c.2137A>G |
p.M713V |
Missense |
9/13 |
- |
1 |
18-9255405-G-A |
c.2140G>A |
p.E714K |
Missense |
9/13 |
- |
2 |
18-9255410-T-C |
c.2145T>C |
p.H715= |
Synonymous |
9/13 |
- |
1 |
18-9255416-CT-C |
c.2153del |
p.L718* |
Frameshift |
9/13 |
- |
1 |
18-9255421-CA-TG |
c.2156_2157inv |
p.T719M |
Missense |
9/13 |
- |
1 |
18-9255422-A-C |
c.2157A>C |
p.T719= |
Synonymous |
9/13 |
- |
1 |
18-9255422-A-G |
c.2157A>G |
p.T719= |
Synonymous |
9/13 |
- |
1 |
18-9255422-A-T |
c.2157A>T |
p.T719= |
Synonymous |
9/13 |
- |
1 |
18-9255424-T-G |
c.2159T>G |
p.L720* |
Nonsense |
9/13 |
- |
1 |
18-9255425-A-ATTTT |
c.2160_2161insTTTT |
p.E721Ffs*2 |
Frameshift |
9/13 |
- |
1 |
18-9255426-G-A |
c.2161G>A |
p.E721K |
Missense |
9/13 |
- |
1 |
18-9255426-G-C |
c.2161G>C |
p.E721Q |
Missense |
9/13 |
- |
3 |
18-9255427-A-G |
c.2162A>G |
p.E721G |
Missense |
9/13 |
- |
1 |
18-9255428-A-G |
c.2163A>G |
p.E721= |
Synonymous |
9/13 |
- |
2 |
18-9255430-A-C |
c.2165A>C |
p.K722T |
Missense |
9/13 |
- |
1 |
18-9255426-GA-G |
c.2169del |
p.K723Nfs*45 |
Frameshift |
9/13 |
- |
8 |
18-9255426-G-GA |
c.2169dup |
p.S724Ifs*10 |
Frameshift |
9/13 |
- |
1 |
18-9255435-T-A |
c.2170T>A |
p.S724T |
Missense |
9/13 |
- |
1 |
18-9255436-C-T |
c.2171C>T |
p.S724L |
Missense |
9/13 |
- |
5 |
18-9255438-A-C |
c.2173A>C |
p.K725Q |
Missense |
9/13 |
- |
1 |
18-9255444-G-A |
c.2179G>A |
p.E727K |
Missense |
9/13 |
- |
1 |
18-9255445-A-G |
c.2180A>G |
p.E727G |
Missense |
9/13 |
- |
1 |
18-9255449-A-G |
c.2184A>G |
p.K728= |
Synonymous |
9/13 |
- |
3 |
18-9255449-A-T |
c.2184A>T |
p.K728N |
Missense |
9/13 |
- |
1 |
18-9255444-GA-G |
c.2186del |
p.N729Tfs*39 |
Frameshift |
9/13 |
- |
1 |
18-9255444-G-GA |
c.2186dup |
p.N729Kfs*5 |
Frameshift |
9/13 |
- |
2 |
18-9255451-A-G |
c.2186A>G |
p.N729S |
Missense |
9/13 |
- |
1 |
18-9255452-AC-A |
c.2187del |
p.N729Kfs*39 |
Frameshift |
9/13 |
- |
1 |
18-9255455-C-T |
c.2190C>T |
p.I730= |
Synonymous |
9/13 |
- |
1 |
18-9255459-G-T |
c.2194G>T |
p.D732Y |
Missense |
9/13 |
- |
2 |
18-9255462-G-A |
c.2197G>A |
p.D733N |
Missense |
9/13 |
- |
1 |
18-9255469-C-T |
c.2204C>T |
p.S735L |
Missense |
9/13 |
- |
2 |
18-9255470-A-C |
c.2205A>C |
p.S735= |
Synonymous |
9/13 |
- |
1 |
18-9255470-A-G |
c.2205A>G |
p.S735= |
Synonymous |
9/13 |
- |
1 |
18-9255470-A-T |
c.2205A>T |
p.S735= |
Synonymous |
9/13 |
- |
1 |
18-9255471-A-G |
c.2206A>G |
p.T736A |
Missense |
9/13 |
- |
10 |
18-9255468-TCAAC-T |
c.2207_2210del |
p.T736Rfs*31 |
Frameshift |
9/13 |
- |
1 |
18-9255476-G-C |
c.2211G>C |
p.K737N |
Missense |
9/13 |
- |
1 |
18-9255476-G-T |
c.2211G>T |
p.K737N |
Missense |
9/13 |
- |
1 |
18-9255477-G-A |
c.2212G>A |
p.E738K |
Missense |
9/13 |
- |
1 |
18-9255477-G-C |
c.2212G>C |
p.E738Q |
Missense |
9/13 |
- |
1 |
18-9255483-C-T |
c.2218C>T |
p.H740Y |
Missense |
9/13 |
- |
1 |
18-9255487-GT-G |
c.2222del |
p.V741Gfs*27 |
Frameshift |
9/13 |
- |
1 |
18-9255491-A-C |
c.2226A>C |
p.S742= |
Synonymous |
9/13 |
- |
1 |
18-9255491-A-G |
c.2226A>G |
p.S742= |
Synonymous |
9/13 |
- |
1 |
18-9255491-A-T |
c.2226A>T |
p.S742= |
Synonymous |
9/13 |
- |
1 |
18-9255494-A-ATTTT |
c.2229_2230insTTTT |
p.E744Ffs*2 |
Frameshift |
9/13 |
- |
1 |
18-9255500-G-A |
c.2235G>A |
p.R745= |
Synonymous |
9/13 |
- |
1 |
18-9255510-G-A |
c.2245G>A |
p.E749K |
Missense |
9/13 |
- |
1 |
18-9255513-G-C |
c.2248G>C |
p.E750Q |
Missense |
9/13 |
- |
1 |
18-9255516-C-G |
c.2251C>G |
p.R751G |
Missense |
9/13 |
- |
1 |
18-9255516-C-T |
c.2251C>T |
p.R751* |
Nonsense |
9/13 |
- |
4 |
18-9255517-G-A |
c.2252G>A |
p.R751Q |
Missense |
9/13 |
- |
1 |
18-9255516-CGA-C |
c.2254_2255del |
p.D752Qfs*3 |
Frameshift |
9/13 |
- |
1 |
18-9255522-CAA-C |
c.2257_2258del |
p.K753Dfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9255525-A-T |
c.2260A>T |
p.I754F |
Missense |
9/13 |
- |
1 |
18-9255534-G-C |
c.2269G>C |
p.E757Q |
Missense |
9/13 |
- |
1 |
18-9255539-C-G |
c.2274C>G |
p.S758R |
Missense |
9/13 |
- |
3 |
18-9255539-C-T |
c.2274C>T |
p.S758= |
Synonymous |
9/13 |
- |
4 |
18-9255540-G-A |
c.2275G>A |
p.E759K |
Missense |
9/13 |
- |
2 |
18-9255547-C-A |
c.2282C>A |
p.S761Y |
Missense |
9/13 |
- |
4 |
18-9255550-T-C |
c.2285T>C |
p.F762S |
Missense |
9/13 |
- |
1 |
18-9255553-G-T |
c.2288G>T |
p.R763M |
Missense |
9/13 |
- |
1 |
18-9255554-G-C |
c.2289G>C |
p.R763S |
Missense |
9/13 |
- |
1 |
18-9255554-G-T |
c.2289G>T |
p.R763S |
Missense |
9/13 |
- |
1 |
18-9255555-G-A |
c.2290G>A |
p.E764K |
Missense |
9/13 |
- |
1 |
18-9255558-G-A |
c.2293G>A |
p.E765K |
Missense |
9/13 |
- |
1 |
18-9255558-G-GA |
c.2299dup |
p.I767Nfs*15 |
Frameshift |
9/13 |
- |
1 |
18-9255565-T-G |
c.2300T>G |
p.I767R |
Missense |
9/13 |
- |
1 |
18-9255570-AG-A |
c.2305del |
p.D769Ifs*2 |
Frameshift |
9/13 |
- |
1 |
18-9255570-G-A |
c.2305G>A |
p.D769N |
Missense |
9/13 |
- |
1 |
18-9255570-G-GC |
c.2305_2306insC |
p.D769Afs*13 |
Frameshift |
9/13 |
- |
1 |
18-9255571-A-G |
c.2306A>G |
p.D769G |
Missense |
9/13 |
- |
1 |
18-9255572-T-C |
c.2307T>C |
p.D769= |
Synonymous |
9/13 |
- |
1 |
18-9255573-C-A |
c.2308C>A |
p.L770I |
Missense |
9/13 |
- |
1 |
18-9255574-T-G |
c.2309T>G |
p.L770R |
Missense |
9/13 |
- |
1 |
18-9255576-A-C |
c.2311A>C |
p.K771Q |
Missense |
9/13 |
- |
1 |
18-9255575-AAAAG-A |
c.2313_2316del |
p.E772Rfs*18 |
Frameshift |
9/13 |
- |
1 |
18-9255580-GAA-G |
c.2315_2316del |
p.E772Gfs*9 |
Frameshift |
9/13 |
- |
1 |
18-9255581-A-C |
c.2316A>C |
p.E772D |
Missense |
9/13 |
- |
1 |
18-9255581-A-T |
c.2316A>T |
p.E772D |
Missense |
9/13 |
- |
1 |
18-9255584-G-C |
c.2319G>C |
p.E773D |
Missense |
9/13 |
- |
4 |
18-9255584-G-T |
c.2319G>T |
p.E773D |
Missense |
9/13 |
- |
3 |
18-9255580-AAG-A |
c.2323_2324del |
p.E775Kfs*6 |
Frameshift |
9/13 |
- |
1 |
18-9255588-G-A |
c.2323G>A |
p.E775K |
Missense |
9/13 |
- |
1 |
18-9255588-G-C |
c.2323G>C |
p.E775Q |
Missense |
9/13 |
- |
1 |
18-9255609-G-A |
c.2344G>A |
p.D782N |
Missense |
9/13 |
- |
1 |
18-9255615-G-T |
c.2350G>T |
p.E784* |
Nonsense |
9/13 |
- |
1 |
18-9255625-C-A |
c.2360C>A |
p.S787Y |
Missense |
9/13 |
- |
2 |
18-9255629-G-C |
c.2364G>C |
p.L788F |
Missense |
9/13 |
- |
1 |
18-9255629-G-T |
c.2364G>T |
p.L788F |
Missense |
9/13 |
- |
1 |
18-9255639-G-A |
c.2374G>A |
p.A792T |
Missense |
9/13 |
- |
1 |
18-9255645-G-C |
c.2380G>C |
p.E794Q |
Missense |
9/13 |
- |
1 |
18-9255647-G-C |
c.2382G>C |
p.E794D |
Missense |
9/13 |
- |
1 |
18-9255647-G-T |
c.2382G>T |
p.E794D |
Missense |
9/13 |
- |
1 |
18-9255649-A-G |
c.2384A>G |
p.E795G |
Missense |
9/13 |
- |
1 |
18-9255651-T-C |
c.2386T>C |
p.S796P |
Missense |
9/13 |
- |
1 |
18-9255652-C-A |
c.2387C>A |
p.S796Y |
Missense |
9/13 |
- |
1 |
18-9255657-G-T |
c.2392G>T |
p.G798W |
Missense |
9/13 |
- |
2 |
18-9255664-AT-A |
c.2402del |
p.L801* |
Frameshift |
9/13 |
- |
1 |
18-9255670-T-C |
c.2405T>C |
p.V802A |
Missense |
9/13 |
- |
1 |
18-9255671-G-T |
c.2406G>T |
p.V802= |
Synonymous |
9/13 |
- |
1 |
18-9255675-A-G |
c.2410A>G |
p.K804E |
Missense |
9/13 |
- |
1 |
18-9255679-A-G |
c.2414A>G |
p.E805G |
Missense |
9/13 |
- |
1 |
18-9255679-A-T |
c.2414A>T |
p.E805V |
Missense |
9/13 |
- |
1 |
18-9255681-A-G |
c.2416A>G |
p.I806V |
Missense |
9/13 |
- |
1 |
18-9255684-G-A |
c.2419G>A |
p.D807N |
Missense |
9/13 |
- |
1 |
18-9255690-G-A |
c.2425G>A |
p.E809K |
Missense |
9/13 |
- |
1 |
18-9255690-G-T |
c.2425G>T |
p.E809* |
Nonsense |
9/13 |
- |
1 |
18-9255701-A-C |
c.2436A>C |
p.E812D |
Missense |
9/13 |
- |
2 |
18-9255701-A-T |
c.2436A>T |
p.E812D |
Missense |
9/13 |
- |
2 |
18-9255702-A-G |
c.2437A>G |
p.K813E |
Missense |
9/13 |
- |
1 |
18-9255707-T-A |
c.2442T>A |
p.H814Q |
Missense |
9/13 |
- |
1 |
18-9255707-T-G |
c.2442T>G |
p.H814Q |
Missense |
9/13 |
- |
1 |
18-9255708-A-G |
c.2443A>G |
p.I815V |
Missense |
9/13 |
- |
1 |
18-9255714-G-C |
c.2449G>C |
p.E817Q |
Missense |
9/13 |
- |
1 |
18-9255717-AG-GC |
c.2452_2453delinsGC |
p.S818A |
Missense |
9/13 |
- |
1 |
18-9255718-G-A |
c.2453G>A |
p.S818N |
Missense |
9/13 |
- |
14 |
18-9255718-G-C |
c.2453G>C |
p.S818T |
Missense |
9/13 |
- |
1 |
18-9255719-T-G |
c.2454T>G |
p.S818R |
Missense |
9/13 |
- |
1 |
18-9255720-A-C |
c.2455A>C |
p.K819Q |
Missense |
9/13 |
- |
1 |
18-9255736-A-G |
c.2471A>G |
p.K824R |
Missense |
9/13 |
- |
1 |
18-9255738-CG-AC |
c.2473_2474delinsAC |
p.R825T |
Missense |
9/13 |
- |
1 |
18-9255738-C-T |
c.2473C>T |
p.R825* |
Nonsense |
9/13 |
- |
1 |
18-9255739-G-A |
c.2474G>A |
p.R825Q |
Missense |
9/13 |
- |
4 |
18-9255745-A-G |
c.2480A>G |
p.Q827R |
Missense |
9/13 |
- |
1 |
18-9255746-A-T |
c.2481A>T |
p.Q827H |
Missense |
9/13 |
- |
1 |
18-9255744-CAAATT-C |
c.2483_2487del |
p.I828Rfs*5 |
Frameshift |
9/13 |
- |
1 |
18-9255753-G-A |
c.2488G>A |
p.E830K |
Missense |
9/13 |
- |
1 |
18-9255753-G-C |
c.2488G>C |
p.E830Q |
Missense |
9/13 |
- |
1 |
18-9255765-G-C |
c.2500G>C |
p.E834Q |
Missense |
9/13 |
- |
1 |
18-9255777-AG-CT |
c.2512_2513inv |
p.R838L |
Missense |
9/13 |
- |
1 |
18-9255778-G-T |
c.2513G>T |
p.R838I |
Missense |
9/13 |
- |
1 |
18-9255784-C-A |
c.2519C>A |
p.T840N |
Missense |
9/13 |
- |
11 |
18-9255784-C-T |
c.2519C>T |
p.T840I |
Missense |
9/13 |
- |
4 |
18-9255786-T-C |
c.2521T>C |
p.F841L |
Missense |
9/13 |
- |
1 |
18-9255788-T-A |
c.2523T>A |
p.F841L |
Missense |
9/13 |
- |
1 |
18-9255788-T-G |
c.2523T>G |
p.F841L |
Missense |
9/13 |
- |
1 |
18-9255794-A-G |
c.2529A>G |
p.K843= |
Synonymous |
9/13 |
- |
1 |
18-9255795-G-A |
c.2530G>A |
p.E844K |
Missense |
9/13 |
- |
1 |
18-9255790-AAAAAG-A |
c.2533_2537del |
p.K845Dfs*4 |
Frameshift |
9/13 |
- |
3 |
18-9255803-AGAT-A |
c.2538_2540del |
p.I847del |
InFrameDeletion |
9/13 |
- |
1 |
18-9255803-G-C |
c.2538G>C |
p.K846N |
Missense |
9/13 |
- |
1 |
18-9255804-A-G |
c.2539A>G |
p.I847V |
Missense |
9/13 |
- |
1 |
18-9255813-G-A |
c.2548G>A |
p.E850K |
Missense |
9/13 |
- |
1 |
18-9255829-AAG-A |
c.2566_2567del |
p.D856Qfs*5 |
Frameshift |
9/13 |
- |
1 |
18-9255831-G-C |
c.2566G>C |
p.D856H |
Missense |
9/13 |
- |
1 |
18-9255831-G-T |
c.2566G>T |
p.D856Y |
Missense |
9/13 |
- |
1 |
18-9255832-A-G |
c.2567A>G |
p.D856G |
Missense |
9/13 |
- |
1 |
18-9255834-A-G |
c.2569A>G |
p.K857E |
Missense |
9/13 |
- |
1 |
18-9255847-G-A |
c.2582G>A |
p.S861N |
Missense |
9/13 |
- |
2 |
18-9255849-G-T |
c.2584G>T |
p.E862* |
Nonsense |
9/13 |
- |
1 |
18-9255852-TG-AC |
c.2587_2588delinsAC |
p.C863T |
Missense |
9/13 |
- |
1 |
18-9255853-G-A |
c.2588G>A |
p.C863Y |
Missense |
9/13 |
- |
1 |
18-9255858-G-C |
c.2593G>C |
p.D865H |
Missense |
9/13 |
- |
1 |
18-9255858-G-T |
c.2593G>T |
p.D865Y |
Missense |
9/13 |
- |
1 |
18-9255858-GATAAA-G |
c.2600_2604del |
p.I867Rfs*15 |
Frameshift |
9/13 |
- |
3 |
18-9255866-TAAAA-T |
c.2601_2604del |
p.I867Mfs*55 |
Frameshift |
9/13 |
- |
1 |
18-9255865-TA-T |
c.2604del |
p.E869Kfs*54 |
Frameshift |
9/13 |
- |
1 |
18-9255869-A-AT |
c.2604_2605insT |
p.E869* |
Nonsense |
9/13 |
- |
1 |
18-9255866-AAAAG-A |
c.2605_2608del |
p.E869Rfs*53 |
Frameshift |
9/13 |
- |
1 |
18-9255870-G-C |
c.2605G>C |
p.E869Q |
Missense |
9/13 |
- |
1 |
18-9255865-TAAAAG-T |
c.2606_2610del |
p.E869Gfs*13 |
Frameshift |
9/13 |
- |
3 |
18-9255879-A-T |
c.2614A>T |
p.K872* |
Nonsense |
9/13 |
- |
1 |
18-9255878-CA-C |
c.2615del |
p.K872Sfs*51 |
Frameshift |
9/13 |
- |
1 |
18-9255882-C-T |
c.2617C>T |
p.L873= |
Synonymous |
9/13 |
- |
1 |
18-9255884-A-C |
c.2619A>C |
p.L873= |
Synonymous |
9/13 |
- |
1 |
18-9255884-A-G |
c.2619A>G |
p.L873= |
Synonymous |
9/13 |
- |
3 |
18-9255884-A-T |
c.2619A>T |
p.L873= |
Synonymous |
9/13 |
- |
1 |
18-9255885-T-C |
c.2620T>C |
p.Y874H |
Missense |
9/13 |
- |
1 |
18-9255886-A-T |
c.2621A>T |
p.Y874F |
Missense |
9/13 |
- |
1 |
18-9255888-T-G |
c.2623T>G |
p.S875A |
Missense |
9/13 |
- |
1 |
18-9255889-C-G |
c.2624C>G |
p.S875W |
Missense |
9/13 |
- |
1 |
18-9255889-C-T |
c.2624C>T |
p.S875L |
Missense |
9/13 |
- |
1 |
18-9255890-G-A |
c.2625G>A |
p.S875= |
Synonymous |
9/13 |
- |
1 |
18-9255890-G-T |
c.2625G>T |
p.S875= |
Synonymous |
9/13 |
- |
1 |
18-9255894-C-T |
c.2629C>T |
p.H877Y |
Missense |
9/13 |
- |
1 |
18-9255897-A-T |
c.2632A>T |
p.T878S |
Missense |
9/13 |
- |
1 |
18-9255898-CAG-C |
c.2635_2636del |
p.E879Kfs*4 |
Frameshift |
9/13 |
- |
1 |
18-9255900-G-T |
c.2635G>T |
p.E879* |
Nonsense |
9/13 |
- |
1 |
18-9255900-G-GA |
c.2640dup |
p.C881Mfs*3 |
Frameshift |
9/13 |
- |
1 |
18-9255907-G-A |
c.2642G>A |
p.C881Y |
Missense |
9/13 |
- |
1 |
18-9255911-T-A |
c.2646T>A |
p.H882Q |
Missense |
9/13 |
- |
1 |
18-9255911-T-G |
c.2646T>G |
p.H882Q |
Missense |
9/13 |
- |
1 |
18-9255912-A-G |
c.2647A>G |
p.K883E |
Missense |
9/13 |
- |
1 |
18-9255913-A-G |
c.2648A>G |
p.K883R |
Missense |
9/13 |
- |
25 |
18-9255915-G-T |
c.2650G>T |
p.E884* |
Nonsense |
9/13 |
- |
1 |
18-9255918-G-C |
c.2653G>C |
p.G885R |
Missense |
9/13 |
- |
1 |
18-9255921-G-C |
c.2656G>C |
p.E886Q |
Missense |
9/13 |
- |
1 |
18-9255924-A-T |
c.2659A>T |
p.K887* |
Nonsense |
9/13 |
- |
1 |
18-9255924-GAA-G |
c.2659_2660del |
p.K887Efs*8 |
Frameshift |
9/13 |
- |
1 |
18-9255937-C-T |
c.2672C>T |
p.T891I |
Missense |
9/13 |
- |
1 |
18-9255940-C-A |
c.2675C>A |
p.A892D |
Missense |
9/13 |
- |
3 |
18-9255940-C-T |
c.2675C>T |
p.A892V |
Missense |
9/13 |
- |
1 |
18-9255948-A-T |
c.2683A>T |
p.K895* |
Nonsense |
9/13 |
- |
2 |
18-9255950-A-C |
c.2685A>C |
p.K895N |
Missense |
9/13 |
- |
1 |
18-9255950-A-G |
c.2685A>G |
p.K895= |
Synonymous |
9/13 |
- |
1 |
18-9255950-A-T |
c.2685A>T |
p.K895N |
Missense |
9/13 |
- |
1 |
18-9255947-TAAAA-T |
c.2686_2689del |
p.K896Lfs*26 |
Frameshift |
9/13 |
- |
1 |
18-9255951-A-C |
c.2686A>C |
p.K896Q |
Missense |
9/13 |
- |
1 |
18-9255953-A-C |
c.2688A>C |
p.K896N |
Missense |
9/13 |
- |
2 |
18-9255953-A-T |
c.2688A>T |
p.K896N |
Missense |
9/13 |
- |
1 |
18-9255947-TA-T |
c.2689del |
p.T897Lfs*26 |
Frameshift |
9/13 |
- |
1 |
18-9255955-AC-A |
c.2690del |
p.T897Mfs*26 |
Frameshift |
9/13 |
- |
1 |
18-9255953-AACTG-A |
c.2691_2694del |
p.D898Tfs*24 |
Frameshift |
9/13 |
- |
1 |
18-9255957-G-T |
c.2692G>T |
p.D898Y |
Missense |
9/13 |
- |
1 |
18-9255958-A-G |
c.2693A>G |
p.D898G |
Missense |
9/13 |
- |
1 |
18-9255959-C-T |
c.2694C>T |
p.D898= |
Synonymous |
9/13 |
- |
2 |
18-9255960-G-A |
c.2695G>A |
p.D899N |
Missense |
9/13 |
- |
1 |
18-9255960-G-T |
c.2695G>T |
p.D899Y |
Missense |
9/13 |
- |
1 |
18-9255962-C-CT |
c.2697_2698insT |
p.R900* |
Nonsense |
9/13 |
- |
1 |
18-9255962-CAGAG-C |
c.2701_2704del |
p.E901Kfs*21 |
Frameshift |
9/13 |
- |
1 |
18-9255962-CAG-C |
c.2703_2704del |
p.S903* |
Frameshift |
9/13 |
- |
1 |
18-9255971-A-AT |
c.2706_2707insT |
p.S903* |
Nonsense |
9/13 |
- |
1 |
18-9255982-A-G |
c.2717A>G |
p.K906R |
Missense |
9/13 |
- |
40 |
18-9255988-A-G |
c.2723A>G |
p.D908G |
Missense |
9/13 |
- |
1 |
18-9255991-G-T |
c.2726G>T |
p.R909M |
Missense |
9/13 |
- |
1 |
18-9255992-G-C |
c.2727G>C |
p.R909S |
Missense |
9/13 |
- |
1 |
18-9255993-A-T |
c.2728A>T |
p.K910* |
Nonsense |
9/13 |
- |
1 |
18-9255992-GA-G |
c.2730del |
p.K910Nfs*13 |
Frameshift |
9/13 |
- |
1 |
18-9255997-A-C |
c.2732A>C |
p.H911P |
Missense |
9/13 |
- |
4 |
18-9255999-G-GA |
c.2735dup |
p.D912Efs*6 |
Frameshift |
9/13 |
- |
1 |
18-9256001-CAAAG-C |
c.2740_2743del |
p.E914Sfs*8 |
Frameshift |
9/13 |
- |
1 |
18-9256001-CAAAGA-C |
c.2741_2745del |
p.E914Afs*2 |
Frameshift |
9/13 |
- |
1 |
18-9256011-C-G |
c.2746C>G |
p.P916A |
Missense |
9/13 |
- |
1 |
18-9256012-C-T |
c.2747C>T |
p.P916L |
Missense |
9/13 |
- |
1 |
18-9256013-T-G |
c.2748T>G |
p.P916= |
Synonymous |
9/13 |
- |
1 |
18-9256014-G-C |
c.2749G>C |
p.E917Q |
Missense |
9/13 |
- |
1 |
18-9256014-G-T |
c.2749G>T |
p.E917* |
Nonsense |
9/13 |
- |
1 |
18-9256014-GA-G |
c.2754del |
p.E919Rfs*4 |
Frameshift |
9/13 |
- |
1 |
18-9256019-A-AT |
c.2754_2755insT |
p.E919* |
Nonsense |
9/13 |
- |
1 |
18-9256019-A-G |
c.2754A>G |
p.K918= |
Synonymous |
9/13 |
- |
1 |
18-9256019-A-T |
c.2754A>T |
p.K918N |
Missense |
9/13 |
- |
1 |
18-9256018-AAGAG-A |
c.2756_2759del |
p.E919Gfs*3 |
Frameshift |
9/13 |
- |
1 |
18-9256022-AG-A |
c.2757del |
p.R920Gfs*3 |
Frameshift |
9/13 |
- |
1 |
18-9256018-AAG-A |
c.2758_2759del |
p.R920Afs*16 |
Frameshift |
9/13 |
- |
1 |
18-9256024-G-A |
c.2759G>A |
p.R920K |
Missense |
9/13 |
- |
1 |
18-9256025-G-A |
c.2760G>A |
p.R920= |
Synonymous |
9/13 |
- |
1 |
18-9256029-C-G |
c.2764C>G |
p.L922V |
Missense |
9/13 |
- |
1 |
18-9256040-C-CT |
c.2775_2776insT |
p.K926* |
Nonsense |
9/13 |
- |
1 |
18-9256040-CAA-C |
c.2777_2778del |
p.K926Rfs*10 |
Frameshift |
9/13 |
- |
2 |
18-9256044-G-C |
c.2779G>C |
p.E927Q |
Missense |
9/13 |
- |
1 |
18-9256046-A-C |
c.2781A>C |
p.E927D |
Missense |
9/13 |
- |
3 |
18-9256049-G-T |
c.2784G>T |
p.K928N |
Missense |
9/13 |
- |
1 |
18-9256057-T-C |
c.2792T>C |
p.M931T |
Missense |
9/13 |
- |
1 |
18-9256058-G-A |
c.2793G>A |
p.M931I |
Missense |
9/13 |
- |
1 |
18-9256058-G-C |
c.2793G>C |
p.M931I |
Missense |
9/13 |
- |
1 |
18-9256058-G-T |
c.2793G>T |
p.M931I |
Missense |
9/13 |
- |
1 |
18-9256061-G-GT |
c.2796_2797insT |
p.K933* |
Nonsense |
9/13 |
- |
1 |
18-9256061-G-T |
c.2796G>T |
p.E932D |
Missense |
9/13 |
- |
1 |
18-9256067-A-AT |
c.2802_2803insT |
p.N935* |
Nonsense |
9/13 |
- |
2 |
18-9256061-GA-G |
c.2804del |
p.N935Ifs*24 |
Frameshift |
9/13 |
- |
4 |
18-9256061-G-GA |
c.2804dup |
p.N935Kfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9256069-A-T |
c.2804A>T |
p.N935I |
Missense |
9/13 |
- |
1 |
18-9256069-A-AT |
c.2805dup |
p.K936* |
Nonsense |
9/13 |
- |
1 |
18-9256071-A-G |
c.2806A>G |
p.K936E |
Missense |
9/13 |
- |
1 |
18-9256070-TAAAC-T |
c.2808_2811del |
p.K936Nfs*22 |
Frameshift |
9/13 |
- |
4 |
18-9256077-T-C |
c.2812T>C |
p.S938P |
Missense |
9/13 |
- |
1 |
18-9256080-G-A |
c.2815G>A |
p.D939N |
Missense |
9/13 |
- |
4 |
18-9256082-T-A |
c.2817T>A |
p.D939E |
Missense |
9/13 |
- |
1 |
18-9256082-T-G |
c.2817T>G |
p.D939E |
Missense |
9/13 |
- |
1 |
18-9256098-AAATC-A |
c.2835_2838del |
p.S946Kfs*12 |
Frameshift |
9/13 |
- |
1 |
18-9256100-A-C |
c.2835A>C |
p.K945N |
Missense |
9/13 |
- |
2 |
18-9256100-A-T |
c.2835A>T |
p.K945N |
Missense |
9/13 |
- |
2 |
18-9256101-TCA-AAC |
c.2836_2838delinsAAC |
p.S946N |
Missense |
9/13 |
- |
1 |
18-9256110-GGC-TGG |
c.2845_2847delinsTGG |
p.G949W |
Missense |
9/13 |
- |
1 |
18-9256118-T-A |
c.2853T>A |
p.N951K |
Missense |
9/13 |
- |
1 |
18-9256118-T-G |
c.2853T>G |
p.N951K |
Missense |
9/13 |
- |
1 |
18-9256118-TAAAG-T |
c.2857_2860del |
p.E953Kfs*5 |
Frameshift |
9/13 |
- |
1 |
18-9256122-GAA-G |
c.2861_2862del |
p.K954Rfs*6 |
Frameshift |
9/13 |
- |
1 |
18-9256122-G-GA |
c.2862dup |
p.D955Rfs*6 |
Frameshift |
9/13 |
- |
1 |
18-9256126-AAGAC-A |
c.2864_2867del |
p.D955Gfs*3 |
Frameshift |
9/13 |
- |
1 |
18-9256131-CAG-C |
c.2866_2867del |
p.R956Gfs*4 |
Frameshift |
9/13 |
- |
1 |
18-9256132-G-C |
c.2867G>C |
p.R956T |
Missense |
9/13 |
- |
1 |
18-9256134-G-A |
c.2869G>A |
p.E957K |
Missense |
9/13 |
- |
1 |
18-9256140-G-A |
c.2875G>A |
p.D959N |
Missense |
9/13 |
- |
1 |
18-9256142-T-TA |
c.2882dup |
p.E962Gfs*4 |
Frameshift |
9/13 |
- |
1 |
18-9256158-A-T |
c.2893A>T |
p.R965* |
Nonsense |
9/13 |
- |
1 |
18-9256159-G-C |
c.2894G>C |
p.R965T |
Missense |
9/13 |
- |
1 |
18-9256161-G-A |
c.2896G>A |
p.D966N |
Missense |
9/13 |
- |
1 |
18-9256164-A-G |
c.2899A>G |
p.K967E |
Missense |
9/13 |
- |
1 |
18-9256165-A-T |
c.2900A>T |
p.K967I |
Missense |
9/13 |
- |
1 |
18-9256163-TAAAG-T |
c.2903_2906del |
p.E968Vfs*2 |
Frameshift |
9/13 |
- |
2 |
18-9256172-T-C |
c.2907T>C |
p.S969= |
Synonymous |
9/13 |
- |
1 |
18-9256182-A-T |
c.2917A>T |
p.T973S |
Missense |
9/13 |
- |
1 |
18-9256183-C-G |
c.2918C>G |
p.T973S |
Missense |
9/13 |
- |
1 |
18-9256196-C-T |
c.2931C>T |
p.H977= |
Synonymous |
9/13 |
- |
1 |
18-9256197-A-C |
c.2932A>C |
p.I978L |
Missense |
9/13 |
- |
1 |
18-9256197-A-G |
c.2932A>G |
p.I978V |
Missense |
9/13 |
- |
1 |
18-9256201-A-T |
c.2936A>T |
p.Q979L |
Missense |
9/13 |
- |
1 |
18-9256203-G-A |
c.2938G>A |
p.E980K |
Missense |
9/13 |
- |
1 |
18-9256206-G-C |
c.2941G>C |
p.E981Q |
Missense |
9/13 |
- |
1 |
18-9256206-GA-G |
c.2949del |
p.K983Nfs*4 |
Frameshift |
9/13 |
- |
7 |
18-9256206-G-GA |
c.2949dup |
p.S984Ifs*7 |
Frameshift |
9/13 |
- |
5 |
18-9256216-C-G |
c.2951C>G |
p.S984* |
Nonsense |
9/13 |
- |
1 |
18-9256216-C-T |
c.2951C>T |
p.S984L |
Missense |
9/13 |
- |
2 |
18-9256219-G-A |
c.2954G>A |
p.S985N |
Missense |
9/13 |
- |
1 |
18-9256222-T-C |
c.2957T>C |
p.I986T |
Missense |
9/13 |
- |
1 |
18-9256226-A-C |
c.2961A>C |
p.V987= |
Synonymous |
9/13 |
- |
1 |
18-9256230-G-T |
c.2965G>T |
p.G989C |
Missense |
9/13 |
- |
2 |
18-9256239-G-A |
c.2974G>A |
p.A992T |
Missense |
9/13 |
- |
1 |
18-9256239-G-C |
c.2974G>C |
p.A992P |
Missense |
9/13 |
- |
1 |
18-9256246-A-G |
c.2981A>G |
p.H994R |
Missense |
9/13 |
- |
1 |
18-9256248-G-A |
c.2983G>A |
p.E995K |
Missense |
9/13 |
- |
1 |
18-9256253-A-AT |
c.2988_2989insT |
p.P997Sfs*5 |
Frameshift |
9/13 |
- |
1 |
18-9256257-T-G |
c.2992T>G |
p.L998V |
Missense |
9/13 |
- |
1 |
18-9256258-T-C |
c.2993T>C |
p.L998S |
Missense |
9/13 |
- |
8 |
18-9256262-C-A |
c.2997C>A |
p.S999= |
Synonymous |
9/13 |
- |
1 |
18-9256262-C-G |
c.2997C>G |
p.S999= |
Synonymous |
9/13 |
- |
1 |
18-9256262-C-T |
c.2997C>T |
p.S999= |
Synonymous |
9/13 |
- |
2 |
18-9256263-C-A |
c.2998C>A |
p.L1000I |
Missense |
9/13 |
- |
1 |
18-9256263-C-T |
c.2998C>T |
p.L1000F |
Missense |
9/13 |
- |
3 |
18-9256266-A-T |
c.3001A>T |
p.K1001* |
Nonsense |
9/13 |
- |
1 |
18-9256269-G-A |
c.3004G>A |
p.E1002K |
Missense |
9/13 |
- |
2 |
18-9256270-A-T |
c.3005A>T |
p.E1002V |
Missense |
9/13 |
- |
3 |
18-9256271-A-T |
c.3006A>T |
p.E1002D |
Missense |
9/13 |
- |
1 |
18-9256265-TAAAGAAAAAACAAAAGATGAACCTTTGAAAACTCCAGATGGA-T |
c.3010_3051del |
p.T1004_K1017del |
InFrameDeletion |
9/13 |
- |
1 |
18-9256275-A-T |
c.3010A>T |
p.T1004S |
Missense |
9/13 |
- |
1 |
18-9256281-G-A |
c.3016G>A |
p.D1006N |
Missense |
9/13 |
- |
1 |
18-9256285-A-G |
c.3020A>G |
p.E1007G |
Missense |
9/13 |
- |
1 |
18-9256311-G-GA |
c.3051dup |
p.D1018Rfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9256318-A-T |
c.3053A>T |
p.D1018V |
Missense |
9/13 |
- |
1 |
18-9256322-A-AT |
c.3057_3058insT |
p.K1020* |
Nonsense |
9/13 |
- |
1 |
18-9256311-GAAAAAGATA-G |
c.3058_3066del |
p.K1020_K1022del |
InFrameDeletion |
9/13 |
- |
1 |
18-9256319-TA-T |
c.3060del |
p.D1021Ifs*4 |
Frameshift |
9/13 |
- |
1 |
18-9256319-T-TA |
c.3060dup |
p.D1021Rfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9256326-G-T |
c.3061G>T |
p.D1021Y |
Missense |
9/13 |
- |
1 |
18-9256333-A-T |
c.3068A>T |
p.D1023V |
Missense |
9/13 |
- |
1 |
18-9256333-A-AT |
c.3069dup |
p.I1024Yfs*3 |
Frameshift |
9/13 |
- |
1 |
18-9256335-A-AGG |
c.3070_3071insGG |
p.I1024Rfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9256336-T-C |
c.3071T>C |
p.I1024T |
Missense |
9/13 |
- |
1 |
18-9256334-TATAG-T |
c.3077_3080del |
p.R1026Tfs*13 |
Frameshift |
9/13 |
- |
1 |
18-9256346-C-A |
c.3081C>A |
p.Y1027* |
Nonsense |
9/13 |
- |
1 |
18-9256346-C-G |
c.3081C>G |
p.Y1027* |
Nonsense |
9/13 |
- |
1 |
18-9256350-G-A |
c.3085G>A |
p.E1029K |
Missense |
9/13 |
- |
1 |
18-9256353-C-T |
c.3088C>T |
p.R1030* |
Nonsense |
9/13 |
- |
1 |
18-9256354-G-A |
c.3089G>A |
p.R1030Q |
Missense |
9/13 |
- |
1 |
18-9256365-TAAAGA-T |
c.3100_3104del |
p.K1034* |
Frameshift |
9/13 |
- |
1 |
18-9256366-AA-TG |
c.3101_3102delinsTG |
p.K1034M |
Missense |
9/13 |
- |
1 |
18-9256367-A-AT |
c.3102_3103insT |
p.D1035* |
Nonsense |
9/13 |
- |
1 |
18-9256381-T-A |
c.3116T>A |
p.I1039K |
Missense |
9/13 |
- |
1 |
18-9256381-T-C |
c.3116T>C |
p.I1039T |
Missense |
9/13 |
- |
1 |
18-9256377-CAAAT-C |
c.3118_3121del |
p.N1040Afs*5 |
Frameshift |
9/13 |
- |
2 |
18-9256387-G-A |
c.3122G>A |
p.S1041N |
Missense |
9/13 |
- |
1 |
18-9256398-C-G |
c.3133C>G |
p.L1045V |
Missense |
9/13 |
- |
1 |
18-9256402-A-AT |
c.3137_3138insT |
p.K1046Nfs*3 |
Frameshift |
9/13 |
- |
1 |
18-9256402-A-T |
c.3137A>T |
p.K1046I |
Missense |
9/13 |
- |
2 |
18-9256405-C-A |
c.3140C>A |
p.S1047Y |
Missense |
9/13 |
- |
1 |
18-9256405-C-T |
c.3140C>T |
p.S1047F |
Missense |
9/13 |
- |
1 |
18-9256405-CT-AA |
c.3140_3141delinsAA |
p.S1047* |
Nonsense |
9/13 |
- |
1 |
18-9256429-A-G |
c.3164A>G |
p.K1055R |
Missense |
9/13 |
- |
3 |
18-9256432-C-T |
c.3167C>T |
p.S1056L |
Missense |
9/13 |
- |
2 |
18-9256435-C-G |
c.3170C>G |
p.S1057* |
Nonsense |
9/13 |
- |
1 |
18-9256440-G-A |
c.3175G>A |
p.A1059T |
Missense |
9/13 |
- |
1 |
18-9256442-A-C |
c.3177A>C |
p.A1059= |
Synonymous |
9/13 |
- |
1 |
18-9256442-A-G |
c.3177A>G |
p.A1059= |
Synonymous |
9/13 |
- |
1 |
18-9256442-A-T |
c.3177A>T |
p.A1059= |
Synonymous |
9/13 |
- |
1 |
18-9256444-C-A |
c.3179C>A |
p.S1060* |
Nonsense |
9/13 |
- |
2 |
18-9256444-C-G |
c.3179C>G |
p.S1060* |
Nonsense |
9/13 |
- |
3 |
18-9256444-CA-C |
c.3183del |
p.D1062Ifs*9 |
Frameshift |
9/13 |
- |
1 |
18-9256454-C-T |
c.3189C>T |
p.T1063= |
Synonymous |
9/13 |
- |
1 |
18-9256455-C-T |
c.3190C>T |
p.R1064* |
Nonsense |
9/13 |
- |
1 |
18-9256456-GA-AT |
c.3191_3192delinsAT |
p.R1064H |
Missense |
9/13 |
- |
1 |
18-9256464-G-A |
c.3199G>A |
p.E1067K |
Missense |
9/13 |
- |
4 |
18-9256469-G-A |
c.3204G>A |
p.K1068= |
Synonymous |
9/13 |
- |
1 |
18-9256469-G-C |
c.3204G>C |
p.K1068N |
Missense |
9/13 |
- |
1 |
18-9256469-G-T |
c.3204G>T |
p.K1068N |
Missense |
9/13 |
- |
1 |
18-9256478-G-A |
c.3213G>A |
p.V1071= |
Synonymous |
9/13 |
- |
1 |
18-9256481-T-TA |
c.3216_3217insA |
p.D1073Rfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9256482-G-A |
c.3217G>A |
p.D1073N |
Missense |
9/13 |
- |
1 |
18-9256484-T-C |
c.3219T>C |
p.D1073= |
Synonymous |
9/13 |
- |
1 |
18-9256489-T-G |
c.3224T>G |
p.L1075* |
Nonsense |
9/13 |
- |
1 |
18-9256493-G-C |
c.3228G>C |
p.M1076I |
Missense |
9/13 |
- |
1 |
18-9256500-A-C |
c.3235A>C |
p.S1079R |
Missense |
9/13 |
- |
1 |
18-9256504-T-G |
c.3239T>G |
p.F1080C |
Missense |
9/13 |
- |
1 |
18-9256509-C-T |
c.3244C>T |
p.R1082* |
Nonsense |
9/13 |
- |
2 |
18-9256510-G-A |
c.3245G>A |
p.R1082Q |
Missense |
9/13 |
- |
2 |
18-9256517-A-AAT |
c.3253_3254insTA |
p.S1085Ifs*6 |
Frameshift |
9/13 |
- |
1 |
18-9256518-A-G |
c.3253A>G |
p.S1085G |
Missense |
9/13 |
- |
2 |
18-9256519-G-A |
c.3254G>A |
p.S1085N |
Missense |
9/13 |
- |
3 |
18-9256521-C-T |
c.3256C>T |
p.L1086F |
Missense |
9/13 |
- |
1 |
18-9256522-T-A |
c.3257T>A |
p.L1086H |
Missense |
9/13 |
- |
1 |
18-9256529-C-T |
c.3264C>T |
p.D1088= |
Synonymous |
9/13 |
- |
1 |
18-9256530-C-A |
c.3265C>A |
p.L1089I |
Missense |
9/13 |
- |
1 |
18-9256534-A-G |
c.3269A>G |
p.E1090G |
Missense |
9/13 |
- |
1 |
18-9256539-G-T |
c.3274G>T |
p.E1092* |
Nonsense |
9/13 |
- |
2 |
18-9256542-C-A |
c.3277C>A |
p.Q1093K |
Missense |
9/13 |
- |
1 |
18-9256546-G-A |
c.3281G>A |
p.W1094* |
Nonsense |
9/13 |
- |
1 |
18-9256547-G-A |
c.3282G>A |
p.W1094* |
Nonsense |
9/13 |
- |
2 |
18-9256552-A-C |
c.3287A>C |
p.K1096T |
Missense |
9/13 |
- |
1 |
18-9256552-A-G |
c.3287A>G |
p.K1096R |
Missense |
9/13 |
- |
2 |
18-9256550-C-CA |
c.3291dup |
p.H1098Tfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9256560-A-G |
c.3295A>G |
p.K1099E |
Missense |
9/13 |
- |
1 |
18-9256571-TTAA-T |
c.3306_3308del |
p.I1102_K1103delinsM |
MultiAAMissense |
9/13 |
- |
1 |
18-9256572-A-T |
c.3307A>T |
p.K1103* |
Nonsense |
9/13 |
- |
1 |
18-9256571-T-TA |
c.3308dup |
p.Q1104Afs*16 |
Frameshift |
9/13 |
- |
1 |
18-9256582-A-G |
c.3317A>G |
p.E1106G |
Missense |
9/13 |
- |
1 |
18-9256586-G-GAT |
c.3321_3322insAT |
p.E1108Mfs*4 |
Frameshift |
9/13 |
- |
1 |
18-9256587-G-A |
c.3322G>A |
p.E1108K |
Missense |
9/13 |
- |
2 |
18-9256590-C-T |
c.3325C>T |
p.R1109W |
Missense |
9/13 |
- |
3 |
18-9256591-G-A |
c.3326G>A |
p.R1109Q |
Missense |
9/13 |
- |
1 |
18-9256596-A-T |
c.3331A>T |
p.R1111* |
Nonsense |
9/13 |
- |
1 |
18-9256597-AG-A |
c.3332del |
p.R1111Kfs*6 |
Frameshift |
9/13 |
- |
1 |
18-9256597-G-A |
c.3332G>A |
p.R1111K |
Missense |
9/13 |
- |
1 |
18-9256597-G-T |
c.3332G>T |
p.R1111I |
Missense |
9/13 |
- |
1 |
18-9256600-A-G |
c.3335A>G |
p.N1112S |
Missense |
9/13 |
- |
1 |
18-9256601-C-T |
c.3336C>T |
p.N1112= |
Synonymous |
9/13 |
- |
1 |
18-9256600-A-AC |
c.3337dup |
p.R1113Pfs*7 |
Frameshift |
9/13 |
- |
1 |
18-9256602-C-T |
c.3337C>T |
p.R1113* |
Nonsense |
9/13 |
- |
2 |
18-9256603-G-A |
c.3338G>A |
p.R1113Q |
Missense |
9/13 |
- |
5 |
18-9256615-A-G |
c.3350A>G |
p.E1117G |
Missense |
9/13 |
- |
1 |
18-9256617-C-T |
c.3352C>T |
p.L1118F |
Missense |
9/13 |
- |
1 |
18-9256621-A-G |
c.3356A>G |
p.K1119R |
Missense |
9/13 |
- |
1 |
18-9256623-A-G |
c.3358A>G |
p.I1120V |
Missense |
9/13 |
- |
1 |
18-9256618-TTAAAA-T |
c.3359_3363del |
p.I1120Rfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9256624-T-C |
c.3359T>C |
p.I1120T |
Missense |
9/13 |
- |
4 |
18-9256629-G-A |
c.3364G>A |
p.D1122N |
Missense |
9/13 |
- |
1 |
18-9256631-T-C |
c.3366T>C |
p.D1122= |
Synonymous |
9/13 |
- |
1 |
18-9256634-A-AT |
c.3369_3370insT |
p.E1124* |
Nonsense |
9/13 |
- |
1 |
18-9256634-A-G |
c.3369A>G |
p.K1123= |
Synonymous |
9/13 |
- |
2 |
18-9256631-TAAAG-T |
c.3370_3373del |
p.E1124Kfs*22 |
Frameshift |
9/13 |
- |
1 |
18-9256635-G-A |
c.3370G>A |
p.E1124K |
Missense |
9/13 |
- |
1 |
18-9256638-A-C |
c.3373A>C |
p.K1125Q |
Missense |
9/13 |
- |
1 |
18-9256639-A-G |
c.3374A>G |
p.K1125R |
Missense |
9/13 |
- |
1 |
18-9256635-G-GA |
c.3376dup |
p.T1126Nfs*7 |
Frameshift |
9/13 |
- |
1 |
18-9256637-AAAAAC-A |
c.3376_3380del |
p.T1126Afs*5 |
Frameshift |
9/13 |
- |
1 |
18-9256638-AAAAC-A |
c.3377_3380del |
p.T1126Sfs*20 |
Frameshift |
9/13 |
- |
1 |
18-9256639-AAAC-A |
c.3377_3379del |
p.T1126del |
InFrameDeletion |
9/13 |
- |
1 |
18-9256647-C-T |
c.3382C>T |
p.H1128Y |
Missense |
9/13 |
- |
1 |
18-9256650-A-G |
c.3385A>G |
p.T1129A |
Missense |
9/13 |
- |
1 |
18-9256650-A-T |
c.3385A>T |
p.T1129S |
Missense |
9/13 |
- |
1 |
18-9256664-C-A |
c.3399C>A |
p.S1133= |
Synonymous |
9/13 |
- |
1 |
18-9256665-A-T |
c.3400A>T |
p.K1134* |
Nonsense |
9/13 |
- |
1 |
18-9256666-A-G |
c.3401A>G |
p.K1134R |
Missense |
9/13 |
- |
3 |
18-9256669-A-G |
c.3404A>G |
p.N1135S |
Missense |
9/13 |
- |
1 |
18-9256670-TAAAG-T |
c.3408_3411del |
p.K1136Nfs*10 |
Frameshift |
9/13 |
- |
1 |
18-9256674-G-A |
c.3409G>A |
p.E1137K |
Missense |
9/13 |
- |
1 |
18-9256674-G-T |
c.3409G>T |
p.E1137* |
Nonsense |
9/13 |
- |
2 |
18-9256683-AGG-TGT |
c.3418_3420delinsTGT |
p.R1140C |
Missense |
9/13 |
- |
1 |
18-9256684-G-T |
c.3419G>T |
p.R1140M |
Missense |
9/13 |
- |
1 |
18-9256687-C-A |
c.3422C>A |
p.S1141* |
Nonsense |
9/13 |
- |
1 |
18-9256687-C-G |
c.3422C>G |
p.S1141* |
Nonsense |
9/13 |
- |
1 |
18-9256691-G-C |
c.3426G>C |
p.K1142N |
Missense |
9/13 |
- |
1 |
18-9256691-G-T |
c.3426G>T |
p.K1142N |
Missense |
9/13 |
- |
1 |
18-9256698-G-A |
c.3433G>A |
p.E1145K |
Missense |
9/13 |
- |
1 |
18-9256708-A-G |
c.3443A>G |
p.D1148G |
Missense |
9/13 |
- |
1 |
18-9256721-G-C |
c.3456G>C |
p.K1152N |
Missense |
9/13 |
- |
1 |
18-9256721-G-T |
c.3456G>T |
p.K1152N |
Missense |
9/13 |
- |
1 |
18-9256723-A-T |
c.3458A>T |
p.E1153V |
Missense |
9/13 |
- |
1 |
18-9256726-A-C |
c.3461A>C |
p.K1154T |
Missense |
9/13 |
- |
1 |
18-9256728-C-T |
c.3463C>T |
p.Q1155* |
Nonsense |
9/13 |
- |
1 |
18-9256730-A-G |
c.3465A>G |
p.Q1155= |
Synonymous |
9/13 |
- |
3 |
18-9256731-C-CTACAT |
c.3466_3467insTACAT |
p.P1156Lfs*7 |
Frameshift |
9/13 |
- |
1 |
18-9256731-C-T |
c.3466C>T |
p.P1156S |
Missense |
9/13 |
- |
1 |
18-9256740-G-A |
c.3475G>A |
p.A1159T |
Missense |
9/13 |
- |
1 |
18-9256741-C-A |
c.3476C>A |
p.A1159D |
Missense |
9/13 |
- |
1 |
18-9256742-T-A |
c.3477T>A |
p.A1159= |
Synonymous |
9/13 |
- |
1 |
18-9256742-T-C |
c.3477T>C |
p.A1159= |
Synonymous |
9/13 |
- |
1 |
18-9256742-T-G |
c.3477T>G |
p.A1159= |
Synonymous |
9/13 |
- |
1 |
18-9256742-TGTAA-T |
c.3482_3485del |
p.S1161Tfs*11 |
Frameshift |
9/13 |
- |
1 |
18-9256752-AGA-TGT |
c.3487_3489delinsTGT |
p.R1163C |
Missense |
9/13 |
- |
1 |
18-9256753-G-T |
c.3488G>T |
p.R1163I |
Missense |
9/13 |
- |
1 |
18-9256756-C-T |
c.3491C>T |
p.S1164L |
Missense |
9/13 |
- |
1 |
18-9256765-T-G |
c.3500T>G |
p.V1167G |
Missense |
9/13 |
- |
2 |
18-9256772-C-CT |
c.3507_3508insT |
p.K1170* |
Nonsense |
9/13 |
- |
1 |
18-9256774-A-C |
c.3509A>C |
p.K1170T |
Missense |
9/13 |
- |
1 |
18-9256786-C-T |
c.3521C>T |
p.T1174I |
Missense |
9/13 |
- |
1 |
18-9256797-T-TCATTA |
c.3535_3536insTACAT |
p.S1179Lfs*10 |
Frameshift |
9/13 |
- |
1 |
18-9256801-C-A |
c.3536C>A |
p.S1179Y |
Missense |
9/13 |
- |
1 |
18-9256801-C-G |
c.3536C>G |
p.S1179C |
Missense |
9/13 |
- |
4 |
18-9256810-C-T |
c.3545C>T |
p.S1182L |
Missense |
9/13 |
- |
1 |
18-9256814-T-C |
c.3549T>C |
p.D1183= |
Synonymous |
9/13 |
- |
1 |
18-9256818-AG-TT |
c.3553_3554delinsTT |
p.S1185F |
Missense |
9/13 |
- |
1 |
18-9256827-A-G |
c.3562A>G |
p.R1188G |
Missense |
9/13 |
- |
1 |
18-9256837-G-A |
c.3572G>A |
p.R1191K |
Missense |
9/13 |
- |
9 |
18-9256839-T-C |
c.3574T>C |
p.S1192P |
Missense |
9/13 |
- |
1 |
18-9256849-A-C |
c.3584A>C |
p.E1195A |
Missense |
9/13 |
- |
1 |
18-9256855-C-T |
c.3590C>T |
p.P1197L |
Missense |
9/13 |
- |
1 |
18-9256857-G-A |
c.3592G>A |
p.G1198S |
Missense |
9/13 |
- |
1 |
18-9256862-C-A |
c.3597C>A |
p.L1199= |
Synonymous |
9/13 |
- |
1 |
18-9256862-C-G |
c.3597C>G |
p.L1199= |
Synonymous |
9/13 |
- |
1 |
18-9256862-C-T |
c.3597C>T |
p.L1199= |
Synonymous |
9/13 |
- |
1 |
18-9256880-C-A |
c.3615C>A |
p.S1205= |
Synonymous |
9/13 |
- |
1 |
18-9256880-C-G |
c.3615C>G |
p.S1205= |
Synonymous |
9/13 |
- |
1 |
18-9256880-C-T |
c.3615C>T |
p.S1205= |
Synonymous |
9/13 |
- |
2 |
18-9256905-G-A |
c.3640G>A |
p.D1214N |
Missense |
9/13 |
- |
2 |
18-9256908-T-C |
c.3643T>C |
p.S1215P |
Missense |
9/13 |
- |
1 |
18-9256909-C-T |
c.3644C>T |
p.S1215F |
Missense |
9/13 |
- |
2 |
18-9256914-C-T |
c.3649C>T |
p.H1217Y |
Missense |
9/13 |
- |
1 |
18-9256923-GTG-ATC |
c.3658_3660delinsATC |
p.V1220I |
Missense |
9/13 |
- |
1 |
18-9256930-C-A |
c.3665C>A |
p.T1222N |
Missense |
9/13 |
- |
1 |
18-9256930-C-T |
c.3665C>T |
p.T1222I |
Missense |
9/13 |
- |
1 |
18-9256931-C-A |
c.3666C>A |
p.T1222= |
Synonymous |
9/13 |
- |
2 |
18-9256931-C-T |
c.3666C>T |
p.T1222= |
Synonymous |
9/13 |
- |
2 |
18-9256938-C-T |
c.3673C>T |
p.P1225S |
Missense |
9/13 |
- |
1 |
18-9256947-G-A |
c.3682G>A |
p.E1228K |
Missense |
9/13 |
- |
1 |
18-9256959-G-C |
c.3694G>C |
p.D1232H |
Missense |
9/13 |
- |
1 |
18-9256965-A-C |
c.3700A>C |
p.M1234L |
Missense |
9/13 |
- |
1 |
18-9256965-A-T |
c.3700A>T |
p.M1234L |
Missense |
9/13 |
- |
1 |
18-9256971-G-T |
c.3706G>T |
p.E1236* |
Nonsense |
9/13 |
- |
1 |
18-9256969-TAG-T |
c.3709_3710del |
p.S1237Ffs*23 |
Frameshift |
9/13 |
- |
1 |
18-9256978-C-A |
c.3713C>A |
p.S1238* |
Nonsense |
9/13 |
- |
1 |
18-9256978-C-G |
c.3713C>G |
p.S1238* |
Nonsense |
9/13 |
- |
1 |
18-9256984-C-T |
c.3719C>T |
p.S1240F |
Missense |
9/13 |
- |
1 |
18-9256987-A-G |
c.3722A>G |
p.Q1241R |
Missense |
9/13 |
- |
1 |
18-9256994-C-T |
c.3729C>T |
p.S1243= |
Synonymous |
9/13 |
- |
1 |
18-9256999-C-T |
c.3734C>T |
p.S1245F |
Missense |
9/13 |
- |
3 |
18-9257010-T-C |
c.3745T>C |
p.F1249L |
Missense |
9/13 |
- |
1 |
18-9257015-TG-T |
c.3750del |
p.L1250Ffs*42 |
Frameshift |
9/13 |
- |
1 |
18-9257017-C-A |
c.3752C>A |
p.S1251* |
Nonsense |
9/13 |
- |
1 |
18-9257017-C-G |
c.3752C>G |
p.S1251* |
Nonsense |
9/13 |
- |
1 |
18-9257017-C-T |
c.3752C>T |
p.S1251L |
Missense |
9/13 |
- |
1 |
18-9257017-TC-T |
c.3752del |
p.S1251* |
Frameshift |
9/13 |
- |
1 |
18-9257019-A-G |
c.3754A>G |
p.I1252V |
Missense |
9/13 |
- |
2 |
18-9257022-G-A |
c.3757G>A |
p.A1253T |
Missense |
9/13 |
- |
1 |
18-9257023-C-A |
c.3758C>A |
p.A1253D |
Missense |
9/13 |
- |
1 |
18-9257029-C-A |
c.3764C>A |
p.S1255Y |
Missense |
9/13 |
- |
1 |
18-9257033-T-C |
c.3768T>C |
p.P1256= |
Synonymous |
9/13 |
- |
1 |
18-9257040-C-T |
c.3775C>T |
p.H1259Y |
Missense |
9/13 |
- |
1 |
18-9257048-G-A |
c.3783G>A |
p.R1261= |
Synonymous |
9/13 |
- |
1 |
18-9257054-G-C |
c.3789G>C |
p.L1263F |
Missense |
9/13 |
- |
1 |
18-9257054-G-T |
c.3789G>T |
p.L1263F |
Missense |
9/13 |
- |
1 |
18-9257058-AG-CT |
c.3793_3794inv |
p.S1265L |
Missense |
9/13 |
- |
1 |
18-9257065-C-A |
c.3800C>A |
p.A1267D |
Missense |
9/13 |
- |
1 |
18-9257075-G-A |
c.3810G>A |
p.P1270= |
Synonymous |
9/13 |
- |
4 |
18-9257079-C-T |
c.3814C>T |
p.R1272W |
Missense |
9/13 |
- |
1 |
18-9257080-G-A |
c.3815G>A |
p.R1272Q |
Missense |
9/13 |
- |
3 |
18-9257084-T-A |
c.3819T>A |
p.I1273= |
Synonymous |
9/13 |
- |
2 |
18-9257084-T-C |
c.3819T>C |
p.I1273= |
Synonymous |
9/13 |
- |
2 |
18-9257085-A-T |
c.3820A>T |
p.K1274* |
Nonsense |
9/13 |
- |
1 |
18-9257088-C-T |
c.3823C>T |
p.P1275S |
Missense |
9/13 |
- |
1 |
18-9257089-C-T |
c.3824C>T |
p.P1275L |
Missense |
9/13 |
- |
1 |
18-9257097-G-T |
c.3832G>T |
p.A1278S |
Missense |
9/13 |
- |
3 |
18-9257118-C-T |
c.3853C>T |
p.H1285Y |
Missense |
9/13 |
- |
1 |
18-9257124-A-T |
c.3859A>T |
p.R1287W |
Missense |
9/13 |
- |
1 |
18-9257125-G-C |
c.3860G>C |
p.R1287T |
Missense |
9/13 |
- |
1 |
18-9257128-C-G |
c.3863C>G |
p.S1288* |
Nonsense |
9/13 |
- |
2 |
18-9257128-C-T |
c.3863C>T |
p.S1288L |
Missense |
9/13 |
- |
1 |
18-9257129-A-C |
c.3864A>C |
p.S1288= |
Synonymous |
9/13 |
- |
1 |
18-9257129-A-G |
c.3864A>G |
p.S1288= |
Synonymous |
9/13 |
- |
1 |
18-9257129-A-T |
c.3864A>T |
p.S1288= |
Synonymous |
9/13 |
- |
1 |
18-9257136-G-A |
c.3871G>A |
p.V1291I |
Missense |
9/13 |
- |
1 |
18-9257139-G-A |
c.3874G>A |
p.E1292K |
Missense |
9/13 |
- |
1 |
18-9257149-A-T |
c.3884A>T |
p.K1295I |
Missense |
9/13 |
- |
1 |
18-9257151-C-T |
c.3886C>T |
p.L1296= |
Synonymous |
9/13 |
- |
1 |
18-9257163-G-C |
c.3898G>C |
p.E1300Q |
Missense |
9/13 |
- |
1 |
18-9257169-A-T |
c.3904A>T |
p.R1302* |
Nonsense |
9/13 |
- |
1 |
18-9257169-A-C |
c.3904A>C |
p.R1302= |
Synonymous |
9/13 |
- |
1 |
18-9257171-A-G |
c.3906A>G |
p.R1302= |
Synonymous |
9/13 |
- |
1 |
18-9257181-G-C |
c.3916G>C |
p.E1306Q |
Missense |
9/13 |
- |
1 |
18-9257181-G-T |
c.3916G>T |
p.E1306* |
Nonsense |
9/13 |
- |
2 |
18-9257184-G-T |
c.3919G>T |
p.V1307F |
Missense |
9/13 |
- |
1 |
18-9257187-C-T |
c.3922C>T |
p.R1308* |
Nonsense |
9/13 |
- |
8 |
18-9257188-G-A |
c.3923G>A |
p.R1308Q |
Missense |
9/13 |
- |
5 |
18-9257196-A-C |
c.3931A>C |
p.S1311R |
Missense |
9/13 |
- |
1 |
18-9257198-C-A |
c.3933C>A |
p.S1311R |
Missense |
9/13 |
- |
1 |
18-9257198-C-G |
c.3933C>G |
p.S1311R |
Missense |
9/13 |
- |
1 |
18-9257201-G-A |
c.3936G>A |
p.M1312I |
Missense |
9/13 |
- |
1 |
18-9257208-G-C |
c.3943G>C |
p.V1315L |
Missense |
9/13 |
- |
1 |
18-9257210-C-A |
c.3945C>A |
p.V1315= |
Synonymous |
9/13 |
- |
1 |
18-9257210-C-G |
c.3945C>G |
p.V1315= |
Synonymous |
9/13 |
- |
1 |
18-9257210-C-T |
c.3945C>T |
p.V1315= |
Synonymous |
9/13 |
- |
2 |
18-9257211-A-G |
c.3946A>G |
p.I1316V |
Missense |
9/13 |
- |
1 |
18-9257228-A-C |
c.3963A>C |
p.K1321N |
Missense |
9/13 |
- |
1 |
18-9257228-A-T |
c.3963A>T |
p.K1321N |
Missense |
9/13 |
- |
1 |
18-9257234-C-T |
c.3969C>T |
p.F1323= |
Synonymous |
9/13 |
- |
4 |
18-9257242-T-A |
c.3977T>A |
p.I1326K |
Missense |
9/13 |
- |
1 |
18-9257247-G-T |
c.3982G>T |
p.E1328* |
Nonsense |
9/13 |
- |
6 |
18-9257250-G-C |
c.3985G>C |
p.E1329Q |
Missense |
9/13 |
- |
1 |
18-9257254-G-A |
c.3989G>A |
p.S1330N |
Missense |
9/13 |
- |
1 |
18-9257265-AG-TA |
c.4000_4001delinsTA |
p.S1334Y |
Missense |
9/13 |
- |
1 |
18-9257275-C-G |
c.4010C>G |
p.T1337S |
Missense |
9/13 |
- |
1 |
18-9257277-G-C |
c.4012G>C |
p.V1338L |
Missense |
9/13 |
- |
1 |
18-9257277-G-T |
c.4012G>T |
p.V1338L |
Missense |
9/13 |
- |
1 |
18-9257290-C-A |
c.4025C>A |
p.T1342N |
Missense |
9/13 |
- |
1 |
18-9257291-T-A |
c.4026T>A |
p.T1342= |
Synonymous |
9/13 |
- |
1 |
18-9257291-T-C |
c.4026T>C |
p.T1342= |
Synonymous |
9/13 |
- |
2 |
18-9257291-T-G |
c.4026T>G |
p.T1342= |
Synonymous |
9/13 |
- |
1 |
18-9257299-C-G |
c.4034C>G |
p.S1345C |
Missense |
9/13 |
- |
3 |
18-9257303-C-A |
c.4038C>A |
p.P1346= |
Synonymous |
9/13 |
- |
1 |
18-9257325-G-C |
c.4060G>C |
p.V1354L |
Missense |
9/13 |
- |
1 |
18-9257325-G-T |
c.4060G>T |
p.V1354L |
Missense |
9/13 |
- |
1 |
18-9257325-GTG-ATC |
c.4060_4062delinsATC |
p.V1354I |
Missense |
9/13 |
- |
2 |
18-9257329-C-T |
c.4064C>T |
p.P1355L |
Missense |
9/13 |
- |
1 |
18-9257335-G-A |
c.4070G>A |
p.R1357K |
Missense |
9/13 |
- |
1 |
18-9257344-C-G |
c.4079C>G |
p.S1360* |
Nonsense |
9/13 |
- |
1 |
18-9257346-A-C |
c.4081A>C |
p.N1361H |
Missense |
9/13 |
- |
1 |
18-9257349-G-C |
c.4084G>C |
p.V1362L |
Missense |
9/13 |
- |
1 |
18-9257349-G-T |
c.4084G>T |
p.V1362L |
Missense |
9/13 |
- |
2 |
18-9257356-A-C |
c.4091A>C |
p.N1364T |
Missense |
9/13 |
- |
1 |
18-9257358-A-G |
c.4093A>G |
p.I1365V |
Missense |
9/13 |
- |
1 |
18-9257366-C-A |
c.4101C>A |
p.S1367= |
Synonymous |
9/13 |
- |
1 |
18-9257366-C-G |
c.4101C>G |
p.S1367= |
Synonymous |
9/13 |
- |
1 |
18-9257366-C-T |
c.4101C>T |
p.S1367= |
Synonymous |
9/13 |
- |
1 |
18-9257371-T-G |
c.4106T>G |
p.F1369C |
Missense |
9/13 |
- |
3 |
18-9257373-G-A |
c.4108G>A |
p.A1370T |
Missense |
9/13 |
- |
1 |
18-9257376-A-C |
c.4111A>C |
p.T1371P |
Missense |
9/13 |
- |
1 |
18-9257376-A-G |
c.4111A>G |
p.T1371A |
Missense |
9/13 |
- |
1 |
18-9257391-G-A |
c.4126G>A |
p.A1376T |
Missense |
9/13 |
- |
1 |
18-9257404-A-C |
c.4139A>C |
p.K1380T |
Missense |
9/13 |
- |
1 |
18-9257405-G-C |
c.4140G>C |
p.K1380N |
Missense |
9/13 |
- |
1 |
18-9257405-G-T |
c.4140G>T |
p.K1380N |
Missense |
9/13 |
- |
1 |
18-9257412-T-TC |
c.4148dup |
p.A1384Sfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9257413-C-G |
c.4148C>G |
p.S1383* |
Nonsense |
9/13 |
- |
1 |
18-9257413-C-T |
c.4148C>T |
p.S1383L |
Missense |
9/13 |
- |
1 |
18-9257413-TC-T |
c.4148del |
p.S1383* |
Frameshift |
9/13 |
- |
1 |
18-9257416-C-T |
c.4151C>T |
p.A1384V |
Missense |
9/13 |
- |
1 |
18-9257421-AG-CA |
c.4156_4157delinsCA |
p.R1386Q |
Missense |
9/13 |
- |
1 |
18-9257425-A-G |
c.4160A>G |
p.N1387S |
Missense |
9/13 |
- |
1 |
18-9257427-C-A |
c.4162C>A |
p.L1388I |
Missense |
9/13 |
- |
1 |
18-9257427-C-T |
c.4162C>T |
p.L1388F |
Missense |
9/13 |
- |
1 |
18-9257432-C-G |
c.4167C>G |
p.I1389M |
Missense |
9/13 |
- |
1 |
18-9257440-CT-TG |
c.4175_4176delinsTG |
p.T1392M |
Missense |
9/13 |
- |
1 |
18-9257446-C-T |
c.4181C>T |
p.P1394L |
Missense |
9/13 |
- |
2 |
18-9257447-A-C |
c.4182A>C |
p.P1394= |
Synonymous |
9/13 |
- |
1 |
18-9257447-A-G |
c.4182A>G |
p.P1394= |
Synonymous |
9/13 |
- |
2 |
18-9257447-A-T |
c.4182A>T |
p.P1394= |
Synonymous |
9/13 |
- |
1 |
18-9257455-C-T |
c.4190C>T |
p.T1397I |
Missense |
9/13 |
- |
1 |
18-9257455-CTG-C |
c.4192_4193del |
p.V1398Nfs*11 |
Frameshift |
9/13 |
- |
1 |
18-9257460-A-T |
c.4195A>T |
p.M1399L |
Missense |
9/13 |
- |
1 |
18-9257461-T-C |
c.4196T>C |
p.M1399T |
Missense |
9/13 |
- |
3 |
18-9257463-G-A |
c.4198G>A |
p.D1400N |
Missense |
9/13 |
- |
1 |
18-9257470-C-T |
c.4205C>T |
p.P1402L |
Missense |
9/13 |
- |
2 |
18-9257481-G-A |
c.4216G>A |
p.E1406K |
Missense |
9/13 |
- |
1 |
18-9257502-G-A |
c.4237G>A |
p.V1413M |
Missense |
9/13 |
- |
2 |
18-9257505-A-T |
c.4240A>T |
p.I1414F |
Missense |
9/13 |
- |
1 |
18-9257506-T-C |
c.4241T>C |
p.I1414T |
Missense |
9/13 |
- |
1 |
18-9257517-T-C |
c.4252T>C |
p.S1418P |
Missense |
9/13 |
- |
1 |
18-9257518-C-A |
c.4253C>A |
p.S1418* |
Nonsense |
9/13 |
- |
1 |
18-9257523-G-C |
c.4258G>C |
p.E1420Q |
Missense |
9/13 |
- |
1 |
18-9257530-C-G |
c.4265C>G |
p.P1422R |
Missense |
9/13 |
- |
1 |
18-9257535-G-C |
c.4270G>C |
p.D1424H |
Missense |
9/13 |
- |
1 |
18-9257541-C-T |
c.4276C>T |
p.L1426= |
Synonymous |
9/13 |
- |
1 |
18-9257546-G-T |
c.4281G>T |
p.E1427D |
Missense |
9/13 |
- |
1 |
18-9257549-AT-A |
c.4286del |
p.L1429* |
Frameshift |
9/13 |
- |
1 |
18-9257562-G-C |
c.4297G>C |
p.D1433H |
Missense |
9/13 |
- |
1 |
18-9257563-A-G |
c.4298A>G |
p.D1433G |
Missense |
9/13 |
- |
1 |
18-9257577-A-T |
c.4312A>T |
p.N1438Y |
Missense |
9/13 |
- |
1 |
18-9257578-A-G |
c.4313A>G |
p.N1438S |
Missense |
9/13 |
- |
1 |
18-9257589-C-T |
c.4324C>T |
p.P1442S |
Missense |
9/13 |
- |
4 |
18-9257598-G-T |
c.4333G>T |
p.E1445* |
Nonsense |
9/13 |
- |
1 |
18-9257610-C-T |
c.4345C>T |
p.Q1449* |
Nonsense |
9/13 |
- |
1 |
18-9257614-GT-G |
c.4354del |
p.C1452Vfs*8 |
Frameshift |
9/13 |
- |
1 |
18-9257626-C-T |
c.4361C>T |
p.S1454F |
Missense |
9/13 |
- |
1 |
18-9257653-C-T |
c.4388C>T |
p.A1463V |
Missense |
9/13 |
- |
3 |
18-9257656-A-T |
c.4391A>T |
p.D1464V |
Missense |
9/13 |
- |
1 |
18-9257656-A-AT |
c.4397dup |
p.L1466Ffs*7 |
Frameshift |
9/13 |
- |
1 |
18-9257665-C-T |
c.4400C>T |
p.S1467F |
Missense |
9/13 |
- |
2 |
18-9257666-C-T |
c.4401C>T |
p.S1467= |
Synonymous |
9/13 |
- |
4 |
18-9257667-C-A |
c.4402C>A |
p.L1468M |
Missense |
9/13 |
- |
1 |
18-9257670-C-T |
c.4405C>T |
p.R1469C |
Missense |
9/13 |
- |
1 |
18-9257671-GC-AA |
c.4406_4407delinsAA |
p.R1469Q |
Missense |
9/13 |
- |
1 |
18-9257679-G-T |
c.4414G>T |
p.E1472* |
Nonsense |
9/13 |
- |
4 |
18-9257684-G-C |
c.4419G>C |
p.L1473= |
Synonymous |
9/13 |
- |
1 |
18-9257689-G-A |
c.4424G>A |
p.G1475E |
Missense |
9/13 |
- |
1 |
18-9257695-C-G |
c.4430C>G |
p.S1477C |
Missense |
9/13 |
- |
2 |
18-9257695-C-T |
c.4430C>T |
p.S1477F |
Missense |
9/13 |
- |
2 |
18-9257697-T-A |
c.4432T>A |
p.C1478S |
Missense |
9/13 |
- |
1 |
18-9257703-C-G |
c.4438C>G |
p.Q1480E |
Missense |
9/13 |
- |
1 |
18-9257705-G-C |
c.4440G>C |
p.Q1480H |
Missense |
9/13 |
- |
1 |
18-9257705-G-T |
c.4440G>T |
p.Q1480H |
Missense |
9/13 |
- |
2 |
18-9257706-G-T |
c.4441G>T |
p.D1481Y |
Missense |
9/13 |
- |
2 |
18-9257709-C-A |
c.4444C>A |
p.P1482T |
Missense |
9/13 |
- |
1 |
18-9257732-G-C |
c.4467G>C |
p.Q1489H |
Missense |
9/13 |
- |
1 |
18-9257732-G-T |
c.4467G>T |
p.Q1489H |
Missense |
9/13 |
- |
1 |
18-9257736-C-T |
c.4471C>T |
p.P1491S |
Missense |
9/13 |
- |
1 |
18-9257750-C-A |
c.4485C>A |
p.P1495= |
Synonymous |
9/13 |
- |
1 |
18-9257750-C-G |
c.4485C>G |
p.P1495= |
Synonymous |
9/13 |
- |
1 |
18-9257750-C-T |
c.4485C>T |
p.P1495= |
Synonymous |
9/13 |
- |
1 |
18-9257761-T-G |
c.4496T>G |
p.L1499R |
Missense |
9/13 |
- |
1 |
18-9257763-TC-GG |
c.4498_4499delinsGG |
p.S1500G |
Missense |
9/13 |
- |
1 |
18-9257764-C-G |
c.4499C>G |
p.S1500* |
Nonsense |
9/13 |
- |
1 |
18-9257766-G-A |
c.4501G>A |
p.D1501N |
Missense |
9/13 |
- |
2 |
18-9257772-GA-G |
c.4509del |
p.E1503Dfs*33 |
Frameshift |
9/13 |
- |
1 |
18-9257772-G-GA |
c.4509dup |
p.S1504Ifs*4 |
Frameshift |
9/13 |
- |
1 |
18-9257777-G-A |
c.4512G>A |
p.S1504= |
Synonymous |
9/13 |
- |
1 |
18-9257777-G-C |
c.4512G>C |
p.S1504= |
Synonymous |
9/13 |
- |
1 |
18-9257777-G-T |
c.4512G>T |
p.S1504= |
Synonymous |
9/13 |
- |
1 |
18-9257778-A-AT |
c.4516dup |
p.S1506Ffs*2 |
Frameshift |
9/13 |
- |
1 |
18-9257794-C-A |
c.4529C>A |
p.S1510Y |
Missense |
9/13 |
- |
1 |
18-9257800-C-A |
c.4535C>A |
p.S1512* |
Nonsense |
9/13 |
- |
1 |
18-9257800-C-G |
c.4535C>G |
p.S1512* |
Nonsense |
9/13 |
- |
1 |
18-9257802-T-C |
c.4537T>C |
p.Y1513H |
Missense |
9/13 |
- |
2 |
18-9257815-A-G |
c.4550A>G |
p.Q1517R |
Missense |
9/13 |
- |
2 |
18-9257820-C-T |
c.4555C>T |
p.P1519S |
Missense |
9/13 |
- |
1 |
18-9257829-T-C |
c.4564T>C |
p.L1522= |
Synonymous |
9/13 |
- |
1 |
18-9257831-A-G |
c.4566A>G |
p.L1522= |
Synonymous |
9/13 |
- |
1 |
18-9257835-C-A |
c.4570C>A |
p.Q1524K |
Missense |
9/13 |
- |
3 |
18-9257835-C-G |
c.4570C>G |
p.Q1524E |
Missense |
9/13 |
- |
1 |
18-9257840-A-AT |
c.4575_4576insT |
p.N1526* |
Nonsense |
9/13 |
- |
1 |
18-9257835-CA-C |
c.4577del |
p.N1526Mfs*10 |
Frameshift |
9/13 |
- |
3 |
18-9257835-C-CA |
c.4577dup |
p.N1526Kfs*7 |
Frameshift |
9/13 |
- |
4 |
18-9257840-AAATGCAGTTCAGATTATTAGTTCTGCTTTAGAT-A |
c.4577_4609del |
p.N1526_D1536del |
InFrameDeletion |
9/13 |
- |
1 |
18-9257846-A-C |
c.4581A>C |
p.A1527= |
Synonymous |
9/13 |
- |
1 |
18-9257846-A-G |
c.4581A>G |
p.A1527= |
Synonymous |
9/13 |
- |
1 |
18-9257846-A-T |
c.4581A>T |
p.A1527= |
Synonymous |
9/13 |
- |
1 |
18-9257863-C-A |
c.4598C>A |
p.S1533Y |
Missense |
9/13 |
- |
1 |
18-9257865-G-A |
c.4600G>A |
p.A1534T |
Missense |
9/13 |
- |
1 |
18-9257871-G-T |
c.4606G>T |
p.D1536Y |
Missense |
9/13 |
- |
1 |
18-9257879-TAATG-T |
c.4618_4621del |
p.E1540Lfs*11 |
Frameshift |
9/13 |
- |
1 |
18-9257890-C-G |
c.4625C>G |
p.T1542R |
Missense |
9/13 |
- |
2 |
18-9257895-G-T |
c.4630G>T |
p.D1544Y |
Missense |
9/13 |
- |
1 |
18-9257898-A-G |
c.4633A>G |
p.T1545A |
Missense |
9/13 |
- |
3 |
18-9257913-G-T |
c.4648G>T |
p.V1550F |
Missense |
9/13 |
- |
1 |
18-9257921-A-C |
c.4656A>C |
p.G1552= |
Synonymous |
9/13 |
- |
1 |
18-9257921-A-G |
c.4656A>G |
p.G1552= |
Synonymous |
9/13 |
- |
1 |
18-9257921-A-T |
c.4656A>T |
p.G1552= |
Synonymous |
9/13 |
- |
1 |
18-9257925-G-A |
c.4660G>A |
p.V1554I |
Missense |
9/13 |
- |
1 |
18-9257925-G-C |
c.4660G>C |
p.V1554L |
Missense |
9/13 |
- |
2 |
18-9257928-C-A |
c.4663C>A |
p.Q1555K |
Missense |
9/13 |
- |
1 |
18-9257929-A-G |
c.4664A>G |
p.Q1555R |
Missense |
9/13 |
- |
1 |
18-9257928-C-CA |
c.4669dup |
p.T1557Nfs*10 |
Frameshift |
9/13 |
- |
1 |
18-9257934-A-C |
c.4669A>C |
p.T1557P |
Missense |
9/13 |
- |
1 |
18-9257937-G-C |
c.4672G>C |
p.D1558H |
Missense |
9/13 |
- |
1 |
18-9257940-G-A |
c.4675G>A |
p.A1559T |
Missense |
9/13 |
- |
1 |
18-9257941-C-T |
c.4676C>T |
p.A1559V |
Missense |
9/13 |
- |
1 |
18-9257940-G-GC |
c.4677dup |
p.F1560Lfs*7 |
Frameshift |
9/13 |
- |
1 |
18-9257949-C-G |
c.4684C>G |
p.P1562A |
Missense |
9/13 |
- |
1 |
18-9257950-C-T |
c.4685C>T |
p.P1562L |
Missense |
9/13 |
- |
1 |
18-9257952-G-A |
c.4687G>A |
p.V1563M |
Missense |
9/13 |
- |
1 |
18-9257955-T-A |
c.4690T>A |
p.Y1564N |
Missense |
9/13 |
- |
1 |
18-9257966-C-T |
c.4701C>T |
p.S1567= |
Synonymous |
9/13 |
- |
1 |
18-9257970-A-G |
c.4705A>G |
p.I1569V |
Missense |
9/13 |
- |
1 |
18-9257973-C-G |
c.4708C>G |
p.Q1570E |
Missense |
9/13 |
- |
1 |
18-9257979-G-T |
c.4714G>T |
p.A1572S |
Missense |
9/13 |
- |
1 |
18-9257981-A-G |
c.4716A>G |
p.A1572= |
Synonymous |
9/13 |
- |
1 |
18-9257983-C-T |
c.4718C>T |
p.S1573L |
Missense |
9/13 |
- |
1 |
18-9257994-G-C |
c.4729G>C |
p.E1577Q |
Missense |
9/13 |
- |
1 |
18-9258006-A-G |
c.4741A>G |
p.T1581A |
Missense |
9/13 |
- |
1 |
18-9258025-C-T |
c.4760C>T |
p.S1587L |
Missense |
9/13 |
- |
4 |
18-9258032-G-A |
c.4767G>A |
p.K1589= |
Synonymous |
9/13 |
- |
1 |
18-9258045-A-G |
c.4780A>G |
p.S1594G |
Missense |
9/13 |
- |
1 |
18-9258052-C-T |
c.4787C>T |
p.A1596V |
Missense |
9/13 |
- |
2 |
18-9258053-C-A |
c.4788C>A |
p.A1596= |
Synonymous |
9/13 |
- |
2 |
18-9258053-C-G |
c.4788C>G |
p.A1596= |
Synonymous |
9/13 |
- |
2 |
18-9258053-C-T |
c.4788C>T |
p.A1596= |
Synonymous |
9/13 |
- |
3 |
18-9258066-A-C |
c.4801A>C |
p.N1601H |
Missense |
9/13 |
- |
1 |
18-9258083-T-C |
c.4818T>C |
p.F1606= |
Synonymous |
9/13 |
- |
1 |
18-9258084-A-G |
c.4819A>G |
p.S1607G |
Missense |
9/13 |
- |
1 |
18-9258092-A-C |
c.4827A>C |
p.L1609= |
Synonymous |
9/13 |
- |
1 |
18-9258093-A-T |
c.4828A>T |
p.T1610S |
Missense |
9/13 |
- |
1 |
18-9258094-C-G |
c.4829C>G |
p.T1610S |
Missense |
9/13 |
- |
1 |
18-9258092-AACTT-A |
c.4830_4833del |
p.Y1611Sfs*31 |
Frameshift |
9/13 |
- |
1 |
18-9258095-T-A |
c.4830T>A |
p.T1610= |
Synonymous |
9/13 |
- |
1 |
18-9258103-C-T |
c.4838C>T |
p.S1613F |
Missense |
9/13 |
- |
1 |
18-9258105-TC-CT |
c.4840_4841delinsCT |
p.S1614L |
Missense |
9/13 |
- |
2 |
18-9258106-C-T |
c.4841C>T |
p.S1614F |
Missense |
9/13 |
- |
2 |
18-9258113-C-A |
c.4848C>A |
p.G1616= |
Synonymous |
9/13 |
- |
2 |
18-9258113-C-G |
c.4848C>G |
p.G1616= |
Synonymous |
9/13 |
- |
2 |
18-9258113-C-T |
c.4848C>T |
p.G1616= |
Synonymous |
9/13 |
- |
2 |
18-9258116-T-G |
c.4851T>G |
p.H1617Q |
Missense |
9/13 |
- |
2 |
18-9258117-G-A |
c.4852G>A |
p.E1618K |
Missense |
9/13 |
- |
1 |
18-9258117-G-T |
c.4852G>T |
p.E1618* |
Nonsense |
9/13 |
- |
1 |
18-9258120-G-A |
c.4855G>A |
p.V1619I |
Missense |
9/13 |
- |
1 |
18-9258129-AG-TT |
c.4864_4865delinsTT |
p.S1622F |
Missense |
9/13 |
- |
1 |
18-9258133-C-G |
c.4868C>G |
p.T1623R |
Missense |
9/13 |
- |
1 |
18-9258135-A-C |
c.4870A>C |
p.T1624P |
Missense |
9/13 |
- |
11 |
18-9258135-A-G |
c.4870A>G |
p.T1624A |
Missense |
9/13 |
- |
2 |
18-9258144-C-T |
c.4879C>T |
p.Q1627* |
Nonsense |
9/13 |
- |
1 |
18-9258161-AAAAG-A |
c.4900_4903del |
p.E1634Tfs*8 |
Frameshift |
9/13 |
- |
1 |
18-9258165-G-C |
c.4900G>C |
p.E1634Q |
Missense |
9/13 |
- |
2 |
18-9258165-G-T |
c.4900G>T |
p.E1634* |
Nonsense |
9/13 |
- |
1 |
18-9258173-A-C |
c.4908A>C |
p.K1636N |
Missense |
9/13 |
- |
1 |
18-9258173-A-T |
c.4908A>T |
p.K1636N |
Missense |
9/13 |
- |
1 |
18-9258175-T-G |
c.4910T>G |
p.L1637R |
Missense |
9/13 |
- |
1 |
18-9258182-T-C |
c.4917T>C |
p.S1639= |
Synonymous |
9/13 |
- |
1 |
18-9258186-G-T |
c.4921G>T |
p.V1641F |
Missense |
9/13 |
- |
3 |
18-9258189-T-G |
c.4924T>G |
p.L1642V |
Missense |
9/13 |
- |
1 |
18-9258195-C-T |
c.4930C>T |
p.H1644Y |
Missense |
9/13 |
- |
1 |
18-9258199-T-G |
c.4934T>G |
p.L1645W |
Missense |
9/13 |
- |
4 |
18-9258223-G-A |
c.4958G>A |
p.C1653Y |
Missense |
9/13 |
- |
1 |
18-9258223-G-GT |
c.4959dup |
p.E1654* |
Nonsense |
9/13 |
- |
1 |
18-9258230-G-A |
c.4965G>A |
p.M1655I |
Missense |
9/13 |
- |
2 |
18-9258230-G-C |
c.4965G>C |
p.M1655I |
Missense |
9/13 |
- |
2 |
18-9258230-G-T |
c.4965G>T |
p.M1655I |
Missense |
9/13 |
- |
2 |
18-9258240-A-G |
c.4975A>G |
p.M1659V |
Missense |
9/13 |
- |
1 |
18-9258243-C-T |
c.4978C>T |
p.P1660S |
Missense |
9/13 |
- |
2 |
18-9258259-A-C |
c.4994A>C |
p.N1665T |
Missense |
9/13 |
- |
1 |
18-9258264-C-T |
c.4999C>T |
p.Q1667* |
Nonsense |
9/13 |
- |
1 |
18-9258267-G-A |
c.5002G>A |
p.D1668N |
Missense |
9/13 |
- |
3 |
18-9258271-C-T |
c.5006C>T |
p.P1669L |
Missense |
9/13 |
- |
2 |
18-9258276-C-T |
c.5011C>T |
p.H1671Y |
Missense |
9/13 |
- |
1 |
18-9258289-G-T |
c.5024G>T |
p.S1675I |
Missense |
9/13 |
- |
1 |
18-9258291-GAA-G |
c.5029_5030del |
p.K1677Vfs*8 |
Frameshift |
9/13 |
- |
1 |
18-9258308-C-T |
c.5043C>T |
p.S1681= |
Synonymous |
9/13 |
- |
1 |
18-9258309-A-G |
c.5044A>G |
p.I1682V |
Missense |
9/13 |
- |
8 |
18-9258313-A-G |
c.5048A>G |
p.E1683G |
Missense |
9/13 |
- |
3 |
18-9258319-A-T |
c.5054A>T |
p.E1685V |
Missense |
9/13 |
- |
1 |
18-9258327-C-G |
c.5062C>G |
p.Q1688E |
Missense |
9/13 |
- |
1 |
18-9258332-A-G |
c.5067A>G |
p.Q1689= |
Synonymous |
9/13 |
- |
1 |
18-9258334-G-T |
c.5069G>T |
p.S1690I |
Missense |
9/13 |
- |
2 |
18-9258343-TC-T |
c.5078del |
p.S1693* |
Frameshift |
9/13 |
- |
1 |
18-9258365-GCAGT-G |
c.5103_5106del |
p.S1702Lfs*11 |
Frameshift |
9/13 |
- |
1 |
18-9258370-C-A |
c.5105C>A |
p.S1702* |
Nonsense |
9/13 |
- |
1 |
18-9258370-C-G |
c.5105C>G |
p.S1702* |
Nonsense |
9/13 |
- |
1 |
18-9258372-A-G |
c.5107A>G |
p.T1703A |
Missense |
9/13 |
- |
3 |
18-9258375-C-G |
c.5110C>G |
p.Q1704E |
Missense |
9/13 |
- |
3 |
18-9258375-C-T |
c.5110C>T |
p.Q1704* |
Nonsense |
9/13 |
- |
1 |
18-9258381-G-T |
c.5116G>T |
p.E1706* |
Nonsense |
9/13 |
- |
1 |
18-9258388-A-T |
c.5123A>T |
p.H1708L |
Missense |
9/13 |
- |
2 |
18-9258391-A-C |
c.5126A>C |
p.K1709T |
Missense |
9/13 |
- |
2 |
18-9258394-A-G |
c.5129A>G |
p.Y1710C |
Missense |
9/13 |
- |
5 |
18-9258396-G-A |
c.5131G>A |
p.G1711S |
Missense |
9/13 |
- |
1 |
18-9258396-G-C |
c.5131G>C |
p.G1711R |
Missense |
9/13 |
- |
1 |
18-9258399-CAGTT-C |
c.5140_5143del |
p.V1714Kfs*2 |
Frameshift |
9/13 |
- |
1 |
18-9258405-G-A |
c.5140G>A |
p.V1714I |
Missense |
9/13 |
- |
1 |
18-9258415-A-T |
c.5150A>T |
p.E1717V |
Missense |
9/13 |
- |
1 |
18-9258420-G-A |
c.5155G>A |
p.E1719K |
Missense |
9/13 |
- |
1 |
18-9258423-G-A |
c.5158G>A |
p.E1720K |
Missense |
9/13 |
- |
1 |
18-9258429-G-T |
c.5164G>T |
p.A1722S |
Missense |
9/13 |
- |
1 |
18-9258430-C-T |
c.5165C>T |
p.A1722V |
Missense |
9/13 |
- |
4 |
18-9258431-C-A |
c.5166C>A |
p.A1722= |
Synonymous |
9/13 |
- |
1 |
18-9258431-C-G |
c.5166C>G |
p.A1722= |
Synonymous |
9/13 |
- |
1 |
18-9258435-G-C |
c.5170G>C |
p.D1724H |
Missense |
9/13 |
- |
1 |
18-9258434-AGAT-A |
c.5173_5175del |
p.D1725del |
InFrameDeletion |
9/13 |
- |
1 |
18-9258441-A-G |
c.5176A>G |
p.K1726E |
Missense |
9/13 |
- |
2 |
18-9258451-A-T |
c.5186A>T |
p.N1729I |
Missense |
9/13 |
- |
1 |
18-9258455-A-G |
c.5190A>G |
p.Q1730= |
Synonymous |
9/13 |
- |
1 |
18-9258453-CA-C |
c.5191del |
p.I1731Sfs*5 |
Frameshift |
9/13 |
- |
1 |
18-9258457-T-C |
c.5192T>C |
p.I1731T |
Missense |
9/13 |
- |
1 |
18-9258458-C-T |
c.5193C>T |
p.I1731= |
Synonymous |
9/13 |
- |
1 |
18-9258459-C-A |
c.5194C>A |
p.P1732T |
Missense |
9/13 |
- |
3 |
18-9258459-C-T |
c.5194C>T |
p.P1732S |
Missense |
9/13 |
- |
5 |
18-9258457-TC-T |
c.5195del |
p.P1732Lfs*4 |
Frameshift |
9/13 |
- |
1 |
18-9258460-C-T |
c.5195C>T |
p.P1732L |
Missense |
9/13 |
- |
2 |
18-9258464-A-T |
c.5199A>T |
p.Q1733H |
Missense |
9/13 |
- |
1 |
18-9258466-G-C |
c.5201G>C |
p.R1734T |
Missense |
9/13 |
- |
1 |
18-9258475-G-C |
c.5210G>C |
p.R1737T |
Missense |
9/13 |
- |
2 |
18-9258489-A-G |
c.5224A>G |
p.T1742A |
Missense |
9/13 |
- |
1 |
18-9258502-A-T |
c.5237A>T |
p.Q1746L |
Missense |
9/13 |
- |
1 |
18-9258512-G-C |
c.5247G>C |
p.Q1749H |
Missense |
9/13 |
- |
1 |
18-9258512-G-T |
c.5247G>T |
p.Q1749H |
Missense |
9/13 |
- |
2 |
18-9258514-T-G |
c.5249T>G |
p.I1750S |
Missense |
9/13 |
- |
1 |
18-9258516-C-A |
c.5251C>A |
p.L1751I |
Missense |
9/13 |
- |
1 |
18-9258516-C-G |
c.5251C>G |
p.L1751V |
Missense |
9/13 |
- |
1 |
18-9258519-G-T |
c.5254G>T |
p.A1752S |
Missense |
9/13 |
- |
1 |
18-9258528-A-G |
c.5263A>G |
p.T1755A |
Missense |
9/13 |
- |
1 |
18-9258529-C-G |
c.5264C>G |
p.T1755R |
Missense |
9/13 |
- |
1 |
18-9258531-C-T |
c.5266C>T |
p.L1756= |
Synonymous |
9/13 |
- |
4 |
18-9258533-A-C |
c.5268A>C |
p.L1756= |
Synonymous |
9/13 |
- |
1 |
18-9258533-A-G |
c.5268A>G |
p.L1756= |
Synonymous |
9/13 |
- |
1 |
18-9258533-A-T |
c.5268A>T |
p.L1756= |
Synonymous |
9/13 |
- |
1 |
18-9258537-T-C |
c.5272T>C |
p.S1758P |
Missense |
9/13 |
- |
11 |
18-9258538-C-A |
c.5273C>A |
p.S1758* |
Nonsense |
9/13 |
- |
1 |
18-9258538-C-G |
c.5273C>G |
p.S1758* |
Nonsense |
9/13 |
- |
1 |
18-9258538-C-T |
c.5273C>T |
p.S1758L |
Missense |
9/13 |
- |
4 |
18-9258539-A-C |
c.5274A>C |
p.S1758= |
Synonymous |
9/13 |
- |
1 |
18-9258539-A-G |
c.5274A>G |
p.S1758= |
Synonymous |
9/13 |
- |
1 |
18-9258539-A-T |
c.5274A>T |
p.S1758= |
Synonymous |
9/13 |
- |
1 |
18-9258540-G-A |
c.5275G>A |
p.E1759K |
Missense |
9/13 |
- |
1 |
18-9258555-TC-AT |
c.5290_5291delinsAT |
p.S1764I |
Missense |
9/13 |
- |
1 |
18-9258556-C-T |
c.5291C>T |
p.S1764F |
Missense |
9/13 |
- |
3 |
18-9258557-C-A |
c.5292C>A |
p.S1764= |
Synonymous |
9/13 |
- |
1 |
18-9258557-C-G |
c.5292C>G |
p.S1764= |
Synonymous |
9/13 |
- |
2 |
18-9258557-C-T |
c.5292C>T |
p.S1764= |
Synonymous |
9/13 |
- |
2 |
18-9258565-C-G |
c.5300C>G |
p.P1767R |
Missense |
9/13 |
- |
1 |
18-9258565-C-T |
c.5300C>T |
p.P1767L |
Missense |
9/13 |
- |
1 |
18-9258568-G-C |
c.5303G>C |
p.R1768T |
Missense |
9/13 |
- |
2 |
18-9258570-G-T |
c.5305G>T |
p.G1769* |
Nonsense |
9/13 |
- |
1 |
18-9258573-AG-CA |
c.5308_5309delinsCA |
p.R1770Q |
Missense |
9/13 |
- |
1 |
18-9258574-G-A |
c.5309G>A |
p.R1770K |
Missense |
9/13 |
- |
2 |
18-9258574-G-T |
c.5309G>T |
p.R1770I |
Missense |
9/13 |
- |
1 |
18-9258580-G-T |
c.5315G>T |
p.R1772I |
Missense |
9/13 |
- |
1 |
18-9258583-T-G |
c.5318T>G |
p.L1773* |
Nonsense |
9/13 |
- |
1 |
18-9258585-A-G |
c.5320A>G |
p.T1774A |
Missense |
9/13 |
- |
2 |
18-9258585-A-T |
c.5320A>T |
p.T1774S |
Missense |
9/13 |
- |
1 |
18-9258586-C-G |
c.5321C>G |
p.T1774S |
Missense |
9/13 |
- |
1 |
18-9258588-G-T |
c.5323G>T |
p.E1775* |
Nonsense |
9/13 |
- |
1 |
18-9258592-A-G |
c.5327A>G |
p.D1776G |
Missense |
9/13 |
- |
3 |
18-9258593-T-C |
c.5328T>C |
p.D1776= |
Synonymous |
9/13 |
- |
2 |
18-9258596-C-T |
c.5331C>T |
p.D1777= |
Synonymous |
9/13 |
- |
2 |
18-9258597-G-A |
c.5332G>A |
p.D1778N |
Missense |
9/13 |
- |
1 |
18-9258600-C-T |
c.5335C>T |
p.P1779S |
Missense |
9/13 |
- |
1 |
18-9258599-TC-T |
c.5336del |
p.P1779Lfs*20 |
Frameshift |
9/13 |
- |
2 |
18-9258603-C-T |
c.5338C>T |
p.Q1780* |
Nonsense |
9/13 |
- |
1 |
18-9258618-C-T |
c.5353C>T |
p.R1785W |
Missense |
9/13 |
- |
2 |
18-9258619-G-A |
c.5354G>A |
p.R1785Q |
Missense |
9/13 |
- |
3 |
18-9258619-G-T |
c.5354G>T |
p.R1785L |
Missense |
9/13 |
- |
2 |
18-9258620-G-A |
c.5355G>A |
p.R1785= |
Synonymous |
9/13 |
- |
1 |
18-9258620-G-T |
c.5355G>T |
p.R1785= |
Synonymous |
9/13 |
- |
4 |
18-9258623-A-AT |
c.5358_5359insT |
p.R1787* |
Nonsense |
9/13 |
- |
1 |
18-9258620-GA-G |
c.5359del |
p.R1787Gfs*12 |
Frameshift |
9/13 |
- |
1 |
18-9258632-G-A |
c.5367G>A |
p.V1789= |
Synonymous |
9/13 |
- |
2 |
18-9258632-G-C |
c.5367G>C |
p.V1789= |
Synonymous |
9/13 |
- |
2 |
18-9258632-G-T |
c.5367G>T |
p.V1789= |
Synonymous |
9/13 |
- |
5 |
18-9258636-C-T |
c.5371C>T |
p.R1791C |
Missense |
9/13 |
- |
2 |
18-9258637-G-A |
c.5372G>A |
p.R1791H |
Missense |
9/13 |
- |
4 |
18-9258639-G-A |
c.5374G>A |
p.V1792I |
Missense |
9/13 |
- |
2 |
18-9258639-G-T |
c.5374G>T |
p.V1792L |
Missense |
9/13 |
- |
1 |
18-9258643-C-G |
c.5378C>G |
p.P1793R |
Missense |
9/13 |
- |
1 |
18-9258657-G-GT |
c.5393dup |
p.S1799Efs*26 |
Frameshift |
9/13 |
- |
1 |
18-9258672-C-T |
c.5407C>T |
p.L1803= |
Synonymous |
9/13 |
- |
1 |
18-9258684-G-C |
c.5419G>C |
p.E1807Q |
Missense |
9/13 |
- |
2 |
18-9258682-AAG-A |
c.5421_5422del |
p.K1808Nfs*16 |
Frameshift |
9/13 |
- |
1 |
18-9258686-G-A |
c.5421G>A |
p.E1807= |
Synonymous |
9/13 |
- |
3 |
18-9258691-C-T |
c.5426C>T |
p.T1809I |
Missense |
9/13 |
- |
1 |
18-9258693-C-T |
c.5428C>T |
p.Q1810* |
Nonsense |
9/13 |
- |
1 |
18-9258699-TC-CT |
c.5434_5435delinsCT |
p.S1812L |
Missense |
9/13 |
- |
1 |
18-9258716-A-ATTT |
c.5451_5452insTTT |
p.V1817_D1818insF |
InFrameInsertion |
9/13 |
- |
2 |
18-9258715-TAG-T |
c.5452_5453del |
p.D1818Ffs*6 |
Frameshift |
9/13 |
- |
1 |
18-9258718-A-C |
c.5453A>C |
p.D1818A |
Missense |
9/13 |
- |
2 |
18-9258721-C-A |
c.5456C>A |
p.S1819Y |
Missense |
9/13 |
- |
2 |
18-9258721-C-T |
c.5456C>T |
p.S1819F |
Missense |
9/13 |
- |
1 |
18-9258723-C-T |
c.5458C>T |
p.L1820= |
Synonymous |
9/13 |
- |
1 |
18-9258727-A-AT |
c.5462_5463insT |
p.K1821Nfs*4 |
Frameshift |
9/13 |
- |
1 |
18-9258732-G-C |
c.5467G>C |
p.D1823H |
Missense |
9/13 |
- |
3 |
18-9258734-T-A |
c.5469T>A |
p.D1823E |
Missense |
9/13 |
- |
1 |
18-9258734-T-G |
c.5469T>G |
p.D1823E |
Missense |
9/13 |
- |
1 |
18-9258741-C-G |
c.5476C>G |
p.Q1826E |
Missense |
9/13 |
- |
1 |
18-9258741-C-T |
c.5476C>T |
p.Q1826* |
Nonsense |
9/13 |
- |
4 |
18-9258745-C-G |
c.5480C>G |
p.P1827R |
Missense |
9/13 |
- |
1 |
18-9258746-A-C |
c.5481A>C |
p.P1827= |
Synonymous |
9/13 |
- |
1 |
18-9258746-A-G |
c.5481A>G |
p.P1827= |
Synonymous |
9/13 |
- |
2 |
18-9258746-A-T |
c.5481A>T |
p.P1827= |
Synonymous |
9/13 |
- |
1 |
18-9258749-C-A |
c.5484C>A |
p.Y1828* |
Nonsense |
9/13 |
- |
1 |
18-9258751-G-T |
c.5486G>T |
p.S1829I |
Missense |
9/13 |
- |
1 |
18-9258752-T-G |
c.5487T>G |
p.S1829R |
Missense |
9/13 |
- |
1 |
18-9258753-TC-GG |
c.5488_5489delinsGG |
p.S1830G |
Missense |
9/13 |
- |
1 |
18-9258754-C-T |
c.5489C>T |
p.S1830L |
Missense |
9/13 |
- |
3 |
18-9258759-A-G |
c.5494A>G |
p.R1832G |
Missense |
9/13 |
- |
1 |
18-9258769-C-A |
c.5504C>A |
p.P1835Q |
Missense |
9/13 |
- |
1 |
18-9258771-T-C |
c.5506T>C |
p.Y1836H |
Missense |
9/13 |
- |
1 |
18-9258785-G-A |
c.5520G>A |
p.L1840= |
Synonymous |
9/13 |
- |
1 |
18-9258791-A-AT |
c.5526_5527insT |
p.R1843* |
Nonsense |
9/13 |
- |
1 |
18-9258795-A-G |
c.5530A>G |
p.K1844E |
Missense |
9/13 |
- |
1 |
18-9258795-A-T |
c.5530A>T |
p.K1844* |
Nonsense |
9/13 |
- |
1 |
18-9258797-A-AT |
c.5532_5533insT |
p.K1845* |
Nonsense |
9/13 |
- |
2 |
18-9258797-A-C |
c.5532A>C |
p.K1844N |
Missense |
9/13 |
- |
1 |
18-9258799-A-AAT |
c.5535_5536insTA |
p.I1846* |
Nonsense |
9/13 |
- |
1 |
18-9258794-GA-G |
c.5536del |
p.I1846* |
Frameshift |
9/13 |
- |
3 |
18-9258801-A-C |
c.5536A>C |
p.I1846L |
Missense |
9/13 |
- |
1 |
18-9258801-A-T |
c.5536A>T |
p.I1846L |
Missense |
9/13 |
- |
1 |
18-9258801-AT-TA |
c.5536_5537delinsTA |
p.I1846* |
Nonsense |
9/13 |
- |
1 |
18-9258814-G-A |
c.5549G>A |
p.R1850H |
Missense |
9/13 |
- |
4 |
18-9258814-G-T |
c.5549G>T |
p.R1850L |
Missense |
9/13 |
- |
1 |
18-9258817-A-G |
c.5552A>G |
p.K1851R |
Missense |
9/13 |
- |
1 |
18-9258820-T-C |
c.5555T>C |
p.L1852S |
Missense |
9/13 |
- |
1 |
18-9258821-A-G |
c.5556A>G |
p.L1852= |
Synonymous |
9/13 |
- |
2 |
18-9258828-A-G |
c.5563A>G |
p.S1855G |
Missense |
9/13 |
- |
1 |
18-9258831-GTGAT-G |
c.5568_5571del |
p.I1857Lfs*11 |
Frameshift |
9/13 |
- |
1 |
18-9258847-C-T |
c.5582C>T |
p.P1861L |
Missense |
9/13 |
- |
1 |
18-9258852-T-A |
c.5587T>A |
p.Y1863N |
Missense |
9/13 |
- |
1 |
18-9258860-C-T |
c.5595C>T |
p.D1865= |
Synonymous |
9/13 |
- |
4 |
18-9258861-G-A |
c.5596G>A |
p.E1866K |
Missense |
9/13 |
- |
1 |
18-9258861-G-GA |
c.5598dup |
p.Y1867Ifs*5 |
Frameshift |
9/13 |
- |
1 |
18-9258877-A-G |
c.5612A>G |
p.N1871S |
Missense |
9/13 |
- |
1 |
18-9258878-C-T |
c.5613C>T |
p.N1871= |
Synonymous |
9/13 |
- |
1 |
18-9258879-G-A |
c.5614G>A |
p.G1872R |
Missense |
9/13 |
- |
2 |
18-9258879-G-C |
c.5614G>C |
p.G1872R |
Missense |
9/13 |
- |
2 |
18-9258880-G-A |
c.5615G>A |
p.G1872E |
Missense |
9/13 |
- |
1 |
18-9258883-C-A |
c.5618C>A |
p.S1873* |
Nonsense |
9/13 |
- |
2 |
18-9258883-C-G |
c.5618C>G |
p.S1873* |
Nonsense |
9/13 |
- |
2 |
18-9258888-C-A |
c.5623C>A |
p.L1875I |
Missense |
9/13 |
- |
1 |
18-9258888-C-G |
c.5623C>G |
p.L1875V |
Missense |
9/13 |
- |
1 |
18-9258903-C-T |
c.5638C>T |
p.P1880S |
Missense |
9/13 |
- |
7 |
18-9258909-AG-CT |
c.5644_5645inv |
p.S1882L |
Missense |
9/13 |
- |
1 |
18-9258911-C-T |
c.5646C>T |
p.S1882= |
Synonymous |
9/13 |
- |
1 |
18-9258924-C-A |
c.5659C>A |
p.P1887T |
Missense |
9/13 |
- |
1 |
18-9258924-C-T |
c.5659C>T |
p.P1887S |
Missense |
9/13 |
- |
1 |
18-9258925-C-T |
c.5660C>T |
p.P1887L |
Missense |
9/13 |
- |
2 |
18-9258930-G-C |
c.5664+1G>C |
- |
IntronicSNV |
- |
9/12 |
1 |
18-9258928-CAGTA-C |
c.5664+5_5664+8del |
- |
SpliceDonorDeletion |
- |
9/12 |
1 |
18-9259170-G-A |
c.5664+241G>A |
- |
IntronicSNV |
- |
9/12 |
3 |
18-9259170-G-C |
c.5664+241G>C |
- |
IntronicSNV |
- |
9/12 |
3 |
18-9263787-G-GA |
c.5665dup |
p.I1889Nfs*12 |
SpliceAcceptorInsertion |
10/13 |
- |
1 |
18-9263791-A-T |
c.5668A>T |
p.T1890S |
Missense |
10/13 |
- |
1 |
18-9263793-A-C |
c.5670A>C |
p.T1890= |
Synonymous |
10/13 |
- |
2 |
18-9263793-A-G |
c.5670A>G |
p.T1890= |
Synonymous |
10/13 |
- |
2 |
18-9263793-A-T |
c.5670A>T |
p.T1890= |
Synonymous |
10/13 |
- |
2 |
18-9263795-C-G |
c.5672C>G |
p.P1891R |
Missense |
10/13 |
- |
1 |
18-9263795-C-T |
c.5672C>T |
p.P1891L |
Missense |
10/13 |
- |
1 |
18-9263804-C-T |
c.5681C>T |
p.S1894L |
Missense |
10/13 |
- |
4 |
18-9263810-C-A |
c.5687C>A |
p.S1896* |
Nonsense |
10/13 |
- |
2 |
18-9263810-C-G |
c.5687C>G |
p.S1896* |
Nonsense |
10/13 |
- |
1 |
18-9263815-C-T |
c.5692C>T |
p.P1898S |
Missense |
10/13 |
- |
6 |
18-9263816-C-T |
c.5693C>T |
p.P1898L |
Missense |
10/13 |
- |
1 |
18-9263824-G-C |
c.5701G>C |
p.E1901Q |
Missense |
10/13 |
- |
2 |
18-9263827-C-T |
c.5704C>T |
p.L1902F |
Missense |
10/13 |
- |
1 |
18-9263828-T-C |
c.5705T>C |
p.L1902P |
Missense |
10/13 |
- |
1 |
18-9263833-C-T |
c.5710C>T |
p.R1904* |
Nonsense |
10/13 |
- |
3 |
18-9263834-G-A |
c.5711G>A |
p.R1904Q |
Missense |
10/13 |
- |
1 |
18-9263834-G-T |
c.5711G>T |
p.R1904L |
Missense |
10/13 |
- |
1 |
18-9263846-T-C |
c.5723T>C |
p.V1908A |
Missense |
10/13 |
- |
3 |
18-9263854-A-G |
c.5731A>G |
p.M1911V |
Missense |
10/13 |
- |
2 |
18-9263858-A-C |
c.5735A>C |
p.K1912T |
Missense |
10/13 |
- |
1 |
18-9263860-C-A |
c.5737C>A |
p.L1913I |
Missense |
10/13 |
- |
1 |
18-9263860-C-T |
c.5737C>T |
p.L1913= |
Synonymous |
10/13 |
- |
1 |
18-9263861-T-C |
c.5738T>C |
p.L1913P |
Missense |
10/13 |
- |
4 |
18-9263864-G-A |
c.5741G>A |
p.R1914H |
Missense |
10/13 |
- |
3 |
18-9263869-C-T |
c.5746C>T |
p.Q1916* |
Nonsense |
10/13 |
- |
1 |
18-9263871-A-T |
c.5748A>T |
p.Q1916H |
Missense |
10/13 |
- |
1 |
18-9263874-C-T |
c.5751C>T |
p.H1917= |
Synonymous |
10/13 |
- |
1 |
18-9263876-G-A |
c.5753G>A |
p.S1918N |
Missense |
10/13 |
- |
1 |
18-9263881-G-A |
c.5758G>A |
p.E1920K |
Missense |
10/13 |
- |
1 |
18-9263888-T-A |
c.5763+2T>A |
- |
IntronicSNV |
- |
10/12 |
1 |
18-9275522-G-A |
c.5764G>A |
p.E1922K |
Missense |
11/13 |
- |
2 |
18-9275530-C-A |
c.5772C>A |
p.L1924= |
Synonymous |
11/13 |
- |
2 |
18-9275531-A-G |
c.5773A>G |
p.I1925V |
Missense |
11/13 |
- |
1 |
18-9275532-T-C |
c.5774T>C |
p.I1925T |
Missense |
11/13 |
- |
2 |
18-9275538-C-G |
c.5780C>G |
p.S1927C |
Missense |
11/13 |
- |
1 |
18-9275538-C-T |
c.5780C>T |
p.S1927F |
Missense |
11/13 |
- |
1 |
18-9275539-C-T |
c.5781C>T |
p.S1927= |
Synonymous |
11/13 |
- |
4 |
18-9275542-C-T |
c.5784C>T |
p.N1928= |
Synonymous |
11/13 |
- |
8 |
18-9275543-G-A |
c.5785G>A |
p.E1929K |
Missense |
11/13 |
- |
2 |
18-9275543-G-T |
c.5785G>T |
p.E1929* |
Nonsense |
11/13 |
- |
1 |
18-9275549-G-T |
c.5791G>T |
p.E1931* |
Nonsense |
11/13 |
- |
1 |
18-9275546-CAAG-C |
c.5792_5794del |
p.E1931del |
InFrameDeletion |
11/13 |
- |
1 |
18-9275558-C-T |
c.5800C>T |
p.R1934* |
Nonsense |
11/13 |
- |
2 |
18-9275559-G-A |
c.5801G>A |
p.R1934Q |
Missense |
11/13 |
- |
1 |
18-9275563-T-G |
c.5805T>G |
p.V1935= |
Synonymous |
11/13 |
- |
6 |
18-9275571-G-A |
c.5813G>A |
p.R1938K |
Missense |
11/13 |
- |
1 |
18-9275574-C-A |
c.5816C>A |
p.A1939D |
Missense |
11/13 |
- |
1 |
18-9275589-C-A |
c.5831C>A |
p.A1944E |
Missense |
11/13 |
- |
1 |
18-9275593-T-A |
c.5835T>A |
p.N1945K |
Missense |
11/13 |
- |
1 |
18-9275595-A-G |
c.5837A>G |
p.Q1946R |
Missense |
11/13 |
- |
1 |
18-9275599-A-G |
c.5841A>G |
p.T1947= |
Synonymous |
11/13 |
- |
1 |
18-9275604-C-T |
c.5846C>T |
p.P1949L |
Missense |
11/13 |
- |
1 |
18-9275610-G-A |
c.5852G>A |
p.S1951N |
Missense |
11/13 |
- |
1 |
18-9275616-G-A |
c.5858G>A |
p.C1953Y |
Missense |
11/13 |
- |
1 |
18-9275627-C-T |
c.5869C>T |
p.L1957= |
Synonymous |
11/13 |
- |
1 |
18-9275634-C-T |
c.5876C>T |
p.A1959V |
Missense |
11/13 |
- |
1 |
18-9275635-C-A |
c.5877C>A |
p.A1959= |
Synonymous |
11/13 |
- |
1 |
18-9275635-C-G |
c.5877C>G |
p.A1959= |
Synonymous |
11/13 |
- |
1 |
18-9275635-C-T |
c.5877C>T |
p.A1959= |
Synonymous |
11/13 |
- |
3 |
18-9275636-G-T |
c.5878G>T |
p.E1960* |
Nonsense |
11/13 |
- |
1 |
18-9275644-C-A |
c.5886C>A |
p.Y1962* |
Nonsense |
11/13 |
- |
1 |
18-9275648-G-GT |
c.5891dup |
p.P1965Tfs*7 |
Frameshift |
11/13 |
- |
1 |
18-9275652-C-T |
c.5894C>T |
p.P1965L |
Missense |
11/13 |
- |
4 |
18-9275657-G-A |
c.5899G>A |
p.D1967N |
Missense |
11/13 |
- |
1 |
18-9275664-A-G |
c.5906A>G |
p.Q1969R |
Missense |
11/13 |
- |
1 |
18-9275703-G-GA |
c.5907+44dup |
- |
IntronicInsertion |
- |
11/12 |
1 |
18-9275742-TAGAA-T |
c.5907+82_5907+85del |
- |
IntronicDeletion |
- |
11/12 |
1 |
18-9275844-A-G |
c.5907+179A>G |
- |
IntronicSNV |
- |
11/12 |
1 |
18-9276639-C-T |
c.5907+974C>T |
- |
IntronicSNV |
- |
11/12 |
1 |
18-9276710-CA-C |
c.5907+1054del |
- |
IntronicDeletion |
- |
11/12 |
1 |
18-9279524-T-C |
c.5908-23T>C |
- |
IntronicSNV |
- |
11/12 |
1 |
18-9279548-C-G |
c.5909C>G |
p.S1970C |
Missense |
12/13 |
- |
1 |
18-9279550-G-A |
c.5911G>A |
p.D1971N |
Missense |
12/13 |
- |
1 |
18-9279553-G-A |
c.5914G>A |
p.D1972N |
Missense |
12/13 |
- |
1 |
18-9279560-A-C |
c.5921A>C |
p.K1974T |
Missense |
12/13 |
- |
2 |
18-9279564-T-G |
c.5925T>G |
p.T1975= |
Synonymous |
12/13 |
- |
2 |
18-9279566-C-T |
c.5927C>T |
p.S1976F |
Missense |
12/13 |
- |
3 |
18-9279572-G-A |
c.5933G>A |
p.R1978K |
Missense |
12/13 |
- |
1 |
18-9279577-C-T |
c.5938C>T |
p.R1980C |
Missense |
12/13 |
- |
2 |
18-9279578-G-A |
c.5939G>A |
p.R1980H |
Missense |
12/13 |
- |
2 |
18-9279583-A-G |
c.5944A>G |
p.N1982D |
Missense |
12/13 |
- |
1 |
18-9279588-A-G |
c.5949A>G |
p.A1983= |
Synonymous |
12/13 |
- |
2 |
18-9279596-T-G |
c.5957T>G |
p.F1986C |
Missense |
12/13 |
- |
1 |
18-9279602-C-A |
c.5963C>A |
p.S1988Y |
Missense |
12/13 |
- |
2 |
18-9279606-G-C |
c.5967G>C |
p.W1989C |
Missense |
12/13 |
- |
1 |
18-9279606-G-T |
c.5967G>T |
p.W1989C |
Missense |
12/13 |
- |
1 |
18-9279618-G-A |
c.5979G>A |
p.V1993= |
Synonymous |
12/13 |
- |
2 |
18-9279618-G-C |
c.5979G>C |
p.V1993= |
Synonymous |
12/13 |
- |
2 |
18-9279618-G-T |
c.5979G>T |
p.V1993= |
Synonymous |
12/13 |
- |
2 |
18-9279627-A-C |
c.5988A>C |
p.K1996N |
Missense |
12/13 |
- |
1 |
18-9279632-A-T |
c.5993A>T |
p.D1998V |
Missense |
12/13 |
- |
1 |
18-9279636-A-G |
c.5997A>G |
p.K1999= |
Synonymous |
12/13 |
- |
1 |
18-9279633-CAAATT-C |
c.5998_6002del |
p.L2000Dfs*10 |
SpliceDonorDeletion |
12/13 |
- |
1 |
18-9279644-T-A |
c.6003+2T>A |
- |
IntronicSNV |
- |
12/12 |
1 |
18-9279663-G-T |
c.6003+21G>T |
- |
IntronicSNV |
- |
12/12 |
1 |
18-9280944-T-G |
c.6009T>G |
p.C2003W |
Missense |
13/13 |
- |
2 |
18-9280945-C-T |
c.6010C>T |
p.L2004F |
Missense |
13/13 |
- |
1 |
18-9280953-G-A |
c.6018G>A |
p.M2006I |
Missense |
13/13 |
- |
6 |
18-9280953-G-C |
c.6018G>C |
p.M2006I |
Missense |
13/13 |
- |
4 |
18-9280953-G-T |
c.6018G>T |
p.M2006I |
Missense |
13/13 |
- |
4 |
18-9280958-A-C |
c.6023A>C |
p.Q2008P |
Missense |
13/13 |
- |
1 |
18-9280960-C-T |
c.6025C>T |
p.Q2009* |
Nonsense |
13/13 |
- |
1 |
18-9280962-A-C |
c.6027A>C |
p.Q2009H |
Missense |
13/13 |
- |
6 |
18-9280962-A-T |
c.6027A>T |
p.Q2009H |
Missense |
13/13 |
- |
4 |
18-9280967-A-C |
c.6032A>C |
p.E2011A |
Missense |
13/13 |
- |
2 |
18-9280968-A-T |
c.6033A>T |
p.E2011D |
Missense |
13/13 |
- |
1 |
18-9280972-G-A |
c.6037G>A |
p.A2013T |
Missense |
13/13 |
- |
1 |
18-9280973-C-T |
c.6038C>T |
p.A2013V |
Missense |
13/13 |
- |
2 |
18-9280974-G-A |
c.6039G>A |
p.A2013= |
Synonymous |
13/13 |
- |
2 |
18-9280974-G-C |
c.6039G>C |
p.A2013= |
Synonymous |
13/13 |
- |
1 |
18-9280974-G-T |
c.6039G>T |
p.A2013= |
Synonymous |
13/13 |
- |
1 |
18-9280984-G-A |
c.6049G>A |
p.A2017T |
Missense |
13/13 |
- |
1 |
18-9280984-G-T |
c.6049G>T |
p.A2017S |
Missense |
13/13 |
- |
1 |
18-9280985-C-CT |
c.6051dup |
p.V2018Cfs*14 |
Frameshift |
13/13 |
- |
1 |
18-9280990-C-A |
c.6055C>A |
p.Q2019K |
Missense |
13/13 |
- |
1 |
18-9280990-C-T |
c.6055C>T |
p.Q2019* |
Nonsense |
13/13 |
- |
1 |
18-9280991-A-T |
c.6056A>T |
p.Q2019L |
Missense |
13/13 |
- |
1 |
18-9280994-G-A |
c.6059G>A |
p.R2020K |
Missense |
13/13 |
- |
1 |
18-9280999-G-T |
c.6064G>T |
p.E2022* |
Nonsense |
13/13 |
- |
1 |
18-9281003-G-T |
c.6068G>T |
p.W2023L |
Missense |
13/13 |
- |
1 |
18-9281010-C-T |
c.6075C>T |
p.L2025= |
Synonymous |
13/13 |
- |
1 |
18-9281014-C-T |
c.6079C>T |
p.L2027F |
Missense |
13/13 |
- |
2 |
18-9281015-T-C |
c.6080T>C |
p.L2027P |
Missense |
13/13 |
- |
1 |
18-9281017-C-T |
c.6082C>T |
p.Q2028* |
Nonsense |
13/13 |
- |
1 |
18-9281020-G-C |
c.6085G>C |
p.E2029Q |
Missense |
13/13 |
- |
1 |
18-9281026-G-T |
c.6091G>T |
p.D2031Y |
Missense |
13/13 |
- |
1 |
18-9281029-C-T |
c.6094C>T |
p.P2032S |
Missense |
13/13 |
- |
3 |
18-9281032-G-A |
c.6097G>A |
p.A2033T |
Missense |
13/13 |
- |
1 |
18-9281049-C-A |
c.6114C>A |
p.I2038= |
Synonymous |
13/13 |
- |
1 |
18-9281049-C-T |
c.6114C>T |
p.I2038= |
Synonymous |
13/13 |
- |
1 |
18-9281053-A-T |
c.6118A>T |
p.I2040F |
Missense |
13/13 |
- |
1 |
18-9281058-C-T |
c.6123C>T |
p.Y2041= |
Synonymous |
13/13 |
- |
1 |
18-9281059-G-A |
c.6124G>A |
p.E2042K |
Missense |
13/13 |
- |
4 |
18-9281064-C-T |
c.6129C>T |
p.I2043= |
Synonymous |
13/13 |
- |
2 |
18-9281065-C-T |
c.6130C>T |
p.Q2044* |
Nonsense |
13/13 |
- |
5 |
18-9281068-G-T |
c.6133G>T |
p.E2045* |
Nonsense |
13/13 |
- |
1 |
18-9281074-T-C |
c.6139T>C |
p.Y2047H |
Missense |
13/13 |
- |
3 |
18-9281080-C-T |
c.6145C>T |
p.P2049S |
Missense |
13/13 |
- |
1 |
18-9281083-C-T |
c.6148C>T |
p.L2050F |
Missense |
13/13 |
- |
6 |
18-9281086-G-A |
c.6151G>A |
p.V2051I |
Missense |
13/13 |
- |
5 |
18-9281087-T-C |
c.6152T>C |
p.V2051A |
Missense |
13/13 |
- |
1 |
18-9281097-C-T |
c.6162C>T |
p.N2054= |
Synonymous |
13/13 |
- |
1 |
18-9281098-G-A |
c.6163G>A |
p.D2055N |
Missense |
13/13 |
- |
1 |
18-9281100-C-T |
c.6165C>T |
p.D2055= |
Synonymous |
13/13 |
- |
1 |
18-9281101-G-A |
c.6166G>A |
p.D2056N |
Missense |
13/13 |
- |
2 |
18-9281102-A-G |
c.6167A>G |
p.D2056G |
Missense |
13/13 |
- |
1 |
18-9281107-G-A |
c.6172G>A |
p.E2058K |
Missense |
13/13 |
- |
1 |
18-9281116-C-G |
c.6181C>G |
p.P2061A |
Missense |
13/13 |
- |
2 |
18-9281117-C-A |
c.6182C>A |
p.P2061H |
Missense |
13/13 |
- |
1 |
18-9281122-T-A |
c.6187T>A |
p.*2063Kext*13 |
Missense |
13/13 |
- |
1 |
18-9281323-T-A |
c.*199T>A |
- |
3-UTRSNV |
13/13 |
- |
3 |
18-9281567-T-C |
c.*443T>C |
- |
3-UTRSNV |
13/13 |
- |
3 |
18-9284602-T-C |
c.*3478T>C |
- |
3-UTRSNV |
13/13 |
- |
2 |
18-9284827-A-G |
c.*3703A>G |
- |
3-UTRSNV |
13/13 |
- |
1 |
18-9285824-T-C |
c.*4700T>C |
- |
3-UTRSNV |
13/13 |
- |
1 |
18-9285892-T-G |
c.*4768T>G |
- |
3-UTRSNV |
13/13 |
- |
1 |