KRAS

KRAS KRAS proto-oncogene, GTPase

Annotation transcript: NM_004985.5

2045 unique variant annotations were identified in 4480 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-25358418-T-C c.*4311A>G - 3-UTRSNV 5/5 - 3
12-25358422-C-CAA c.*4305_*4306dup - 3-UTRInsertion 5/5 - 1
12-25358650-A-T c.*4079T>A - 3-UTRSNV 5/5 - 13
12-25358828-T-G c.*3901A>C - 3-UTRSNV 5/5 - 21
12-25358943-T-C c.*3786A>G - 3-UTRSNV 5/5 - 14
12-25358969-T-G c.*3760A>C - 3-UTRSNV 5/5 - 14
12-25359227-A-T c.*3502T>A - 3-UTRSNV 5/5 - 2
12-25359328-A-T c.*3401T>A - 3-UTRSNV 5/5 - 10
12-25359352-G-A c.*3377C>T - 3-UTRSNV 5/5 - 13
12-25359577-C-T c.*3152G>A - 3-UTRSNV 5/5 - 2
12-25359841-T-A c.*2888A>T - 3-UTRSNV 5/5 - 18
12-25359841-T-C c.*2888A>G - 3-UTRSNV 5/5 - 18
12-25359898-A-G c.*2831T>C - 3-UTRSNV 5/5 - 1
12-25359898-A-T c.*2831T>A - 3-UTRSNV 5/5 - 1
12-25359919-A-G c.*2810T>C - 3-UTRSNV 5/5 - 1
12-25360138-T-C c.*2591A>G - 3-UTRSNV 5/5 - 8
12-25360224-A-C c.*2505T>G - 3-UTRSNV 5/5 - 106
12-25360545-T-C c.*2184A>G - 3-UTRSNV 5/5 - 2
12-25360964-A-G c.*1765T>C - 3-UTRSNV 5/5 - 1
12-25361074-G-A c.*1655C>T - 3-UTRSNV 5/5 - 5
12-25361091-T-A c.*1638A>T - 3-UTRSNV 5/5 - 11
12-25361091-T-C c.*1638A>G - 3-UTRSNV 5/5 - 11
12-25361142-A-G c.*1587T>C - 3-UTRSNV 5/5 - 13
12-25361646-T-C c.*1083A>G - 3-UTRSNV 5/5 - 10
12-25361667-C-T c.*1062G>A - 3-UTRSNV 5/5 - 1
12-25361756-C-A c.*973G>T - 3-UTRSNV 5/5 - 4
12-25361905-A-G c.*824T>C - 3-UTRSNV 5/5 - 2
12-25362126-T-C c.*603A>G - 3-UTRSNV 5/5 - 1
12-25362217-A-G c.*512T>C - 3-UTRSNV 5/5 - 32
12-25362465-G-A c.*264C>T - 3-UTRSNV 5/5 - 14
12-25362465-G-C c.*264C>G - 3-UTRSNV 5/5 - 14
12-25362552-A-C c.*177T>G - 3-UTRSNV 5/5 - 68
12-25362557-A-G c.*172T>C - 3-UTRSNV 5/5 - 1
12-25362732-C-T c.564G>A p.M188I Missense 5/5 - 2
12-25362732-CAT-C c.562_563del p.M188Vfs*23 Frameshift 5/5 - 1
12-25362734-T-C c.562A>G p.M188V Missense 5/5 - 2
12-25362735-A-C c.561T>G p.I187M Missense 5/5 - 1
12-25362735-A-G c.561T>C p.I187= Synonymous 5/5 - 1
12-25362735-A-T c.561T>A p.I187= Synonymous 5/5 - 1
12-25362736-A-G c.560T>C p.I187T Missense 5/5 - 3
12-25362736-A-T c.560T>A p.I187N Missense 5/5 - 2
12-25362736-AT-GC c.559_560delinsGC p.I187A Missense 5/5 - 1
12-25362737-T-C c.559A>G p.I187V Missense 5/5 - 12
12-25362739-A-G c.557T>C p.V186A Missense 5/5 - 1
12-25362739-A-T c.557T>A p.V186E Missense 5/5 - 1
12-25362740-C-A c.556G>T p.V186L Missense 5/5 - 1
12-25362740-C-G c.556G>C p.V186L Missense 5/5 - 1
12-25362740-C-T c.556G>A p.V186I Missense 5/5 - 2
12-25362741-A-T c.555T>A p.C185* Nonsense 5/5 - 1
12-25362741-CA-C c.555del p.C185Wfs*2 Frameshift 5/5 - 1
12-25362742-C-A c.554G>T p.C185F Missense 5/5 - 1
12-25362742-CA-GC c.553_554delinsGC p.C185A Missense 5/5 - 5
12-25362742-C-T c.554G>A p.C185Y Missense 5/5 - 1
12-25362742-C-G c.554G>C p.C185S Missense 5/5 - 17
12-25362743-A-T c.553T>A p.C185S Missense 5/5 - 17
12-25362744-ACTT-A c.550_552del p.K184del InFrameDeletion 5/5 - 1
12-25362744-C-A c.552G>T p.K184N Missense 5/5 - 2
12-25362744-C-G c.552G>C p.K184N Missense 5/5 - 2
12-25362744-CT-GA c.551_552delinsTC p.K184I Missense 5/5 - 1
12-25362745-T-A c.551A>T p.K184M Missense 5/5 - 1
12-25362745-T-C c.551A>G p.K184R Missense 5/5 - 1
12-25362745-T-G c.551A>C p.K184T Missense 5/5 - 2
12-25362745-TT-GC c.550_551delinsGC p.K184A Missense 5/5 - 1
12-25362745-TT-GG c.550_551delinsCC p.K184P Missense 5/5 - 1
12-25362746-T-A c.550A>T p.K184* Nonsense 5/5 - 1
12-25362746-T-C c.550A>G p.K184E Missense 5/5 - 2
12-25362745-TTTG-T c.548_550del p.T183del InFrameDeletion 5/5 - 1
12-25362747-TGT-ACA c.547_549inv p.T183C Missense 5/5 - 1
12-25362748-G-C c.548C>G p.T183R Missense 5/5 - 2
12-25362748-GT-TA c.547_548delinsTA p.T183* Nonsense 5/5 - 1
12-25362743-ACTTTGT-A c.547_552del p.T183_K184del InFrameDeletion 5/5 - 2
12-25362749-T-A c.547A>T p.T183S Missense 5/5 - 1
12-25362749-T-C c.547A>G p.T183A Missense 5/5 - 6
12-25362749-T-G c.547A>C p.T183P Missense 5/5 - 1
12-25362750-C-A c.546G>T p.K182N Missense 5/5 - 5
12-25362750-C-G c.546G>C p.K182N Missense 5/5 - 4
12-25362750-CT-GC c.545_546delinsGC p.K182S Missense 5/5 - 1
12-25362751-T-A c.545A>T p.K182M Missense 5/5 - 2
12-25362751-T-C c.545A>G p.K182R Missense 5/5 - 4
12-25362751-T-G c.545A>C p.K182T Missense 5/5 - 1
12-25362751-TT-AC c.544_545delinsGT p.K182V Missense 5/5 - 1
12-25362751-TT-GC c.544_545delinsGC p.K182A Missense 5/5 - 4
12-25362752-T-C c.544A>G p.K182E Missense 5/5 - 4
12-25362753-TG-AC c.542_543delinsGT p.S181C Missense 5/5 - 1
12-25362753-TGA-GTC c.541_543delinsGAC p.S181D Missense 5/5 - 9
12-25362754-G-A c.542C>T p.S181L Missense 5/5 - 2
12-25362754-GA-AT c.541_542delinsAT p.S181I Missense 5/5 - 1
12-25362754-GA-TC c.541_542inv p.S181E Missense 5/5 - 6
12-25362755-A-C c.541T>G p.S181A Missense 5/5 - 8
12-25362755-A-G c.541T>C p.S181P Missense 5/5 - 2
12-25362756-C-A c.540G>T p.K180N Missense 5/5 - 1
12-25362756-C-G c.540G>C p.K180N Missense 5/5 - 1
12-25362756-CT-GA c.539_540delinsTC p.K180I Missense 5/5 - 1
12-25362757-T-C c.539A>G p.K180R Missense 5/5 - 1
12-25362757-TT-GC c.538_539delinsGC p.K180A Missense 5/5 - 3
12-25362758-T-G c.538A>C p.K180Q Missense 5/5 - 2
12-25362755-ACTT-A c.538_540del p.K180del InFrameDeletion 5/5 - 2
12-25362759-C-A c.537G>T p.K179N Missense 5/5 - 1
12-25362759-C-G c.537G>C p.K179N Missense 5/5 - 1
12-25362759-C-T c.537G>A p.K179= Synonymous 5/5 - 2
12-25362760-T-A c.536A>T p.K179M Missense 5/5 - 2
12-25362760-T-C c.536A>G p.K179R Missense 5/5 - 8
12-25362760-TT-GC c.535_536delinsGC p.K179A Missense 5/5 - 2
12-25362761-T-G c.535A>C p.K179Q Missense 5/5 - 1
12-25362762-T-A c.534A>T p.K178N Missense 5/5 - 2
12-25362762-T-C c.534A>G p.K178= Synonymous 5/5 - 1
12-25362762-T-G c.534A>C p.K178N Missense 5/5 - 3
12-25362762-TTT-ACA c.532_534delinsTGT p.K178C Missense 5/5 - 1
12-25362763-T-C c.533A>G p.K178R Missense 5/5 - 2
12-25362764-T-G c.532A>C p.K178Q Missense 5/5 - 3
12-25362765-C-A c.531G>T p.K177N Missense 5/5 - 3
12-25362765-C-G c.531G>C p.K177N Missense 5/5 - 3
12-25362766-T-G c.530A>C p.K177T Missense 5/5 - 1
12-25362767-T-A c.529A>T p.K177* Nonsense 5/5 - 1
12-25362767-T-G c.529A>C p.K177Q Missense 5/5 - 3
12-25362762-TTTC-T c.531_533del p.K180del InFrameDeletion 5/5 - 16
12-25362768-C-A c.528G>T p.K176N Missense 5/5 - 1
12-25362768-C-G c.528G>C p.K176N Missense 5/5 - 1
12-25362769-T-A c.527A>T p.K176M Missense 5/5 - 1
12-25362769-T-C c.527A>G p.K176R Missense 5/5 - 4
12-25362769-T-G c.527A>C p.K176T Missense 5/5 - 1
12-25362770-T-C c.526A>G p.K176E Missense 5/5 - 1
12-25362770-T-G c.526A>C p.K176Q Missense 5/5 - 7
12-25362772-TT-GC c.523_524delinsGC p.K175A Missense 5/5 - 1
12-25362768-CT-C c.527del p.K176Rfs*11 Frameshift 5/5 - 1
12-25362773-T-A c.523A>T p.K175* Nonsense 5/5 - 1
12-25362773-T-G c.523A>C p.K175Q Missense 5/5 - 2
12-25362774-A-G c.522T>C p.G174= Synonymous 5/5 - 1
12-25362775-C-A c.521G>T p.G174V Missense 5/5 - 3
12-25362775-C-T c.521G>A p.G174D Missense 5/5 - 2
12-25362776-C-A c.520G>T p.G174C Missense 5/5 - 1
12-25362776-C-G c.520G>C p.G174R Missense 5/5 - 1
12-25362776-C-T c.520G>A p.G174S Missense 5/5 - 2
12-25362775-C-CCAAG c.520_521insCTTG p.G174Afs*3 Frameshift 5/5 - 1
12-25362777-A-G c.519T>C p.D173= Synonymous 5/5 - 54
12-25362777-A-T c.519T>A p.D173E Missense 5/5 - 22
12-25362777-CA-C c.519del p.D173Efs*14 Frameshift 5/5 - 1
12-25362778-T-C c.518A>G p.D173G Missense 5/5 - 1
12-25362778-TC-GG c.517_518delinsCC p.D173P Missense 5/5 - 2
12-25362778-T-G c.518A>C p.D173A Missense 5/5 - 1
12-25362779-C-A c.517G>T p.D173Y Missense 5/5 - 1
12-25362779-C-T c.517G>A p.D173N Missense 5/5 - 2
12-25362780-T-A c.516A>T p.K172N Missense 5/5 - 1
12-25362780-T-C c.516A>G p.K172= Synonymous 5/5 - 2
12-25362780-T-G c.516A>C p.K172N Missense 5/5 - 1
12-25362781-TT-CC c.514_515delinsGG p.K172G Missense 5/5 - 1
12-25362782-T-C c.514A>G p.K172E Missense 5/5 - 1
12-25362783-G-A c.513C>T p.S171= Synonymous 5/5 - 2
12-25362783-G-T c.513C>A p.S171R Missense 5/5 - 1
12-25362784-C-A c.512G>T p.S171I Missense 5/5 - 2
12-25362784-CT-AA c.511_512delinsTT p.S171F Missense 5/5 - 2
12-25362784-CT-GC c.511_512delinsGC p.S171A Missense 5/5 - 2
12-25362784-GC-G c.512del p.S171Tfs*16 Frameshift 5/5 - 1
12-25362784-C-CT c.511dup p.S171Kfs*5 Frameshift 5/5 - 2
12-25362785-CT-C c.511del p.S171Afs*16 Frameshift 5/5 - 1
12-25362785-T-A c.511A>T p.S171C Missense 5/5 - 2
12-25362785-T-C c.511A>G p.S171G Missense 5/5 - 2
12-25362786-C-A c.510G>T p.M170I Missense 5/5 - 2
12-25362786-C-G c.510G>C p.M170I Missense 5/5 - 2
12-25362786-C-T c.510G>A p.M170I Missense 5/5 - 2
12-25362787-AT-CC c.508_509delinsGG p.M170G Missense 5/5 - 1
12-25362788-T-A c.508A>T p.M170L Missense 5/5 - 2
12-25362789-C-A c.507G>T p.K169N Missense 5/5 - 2
12-25362789-C-G c.507G>C p.K169N Missense 5/5 - 2
12-25362789-CTT-ACA c.505_507delinsTGT p.K169C Missense 5/5 - 1
12-25362790-T-C c.506A>G p.K169R Missense 5/5 - 1
12-25362791-T-C c.505A>G p.K169E Missense 5/5 - 1
12-25362792-T-A c.504A>T p.E168D Missense 5/5 - 3
12-25362792-T-G c.504A>C p.E168D Missense 5/5 - 3
12-25362787-ATCTTT-A c.504_508del p.E168Dfs*6 Frameshift 5/5 - 1
12-25362793-T-C c.503A>G p.E168G Missense 5/5 - 2
12-25362793-TC-CT c.502_503delinsAG p.E168R Missense 5/5 - 3
12-25362794-C-A c.502G>T p.E168* Nonsense 5/5 - 2
12-25362794-C-T c.502G>A p.E168K Missense 5/5 - 2
12-25362795-T-C c.501A>G p.K167= Synonymous 5/5 - 1
12-25362795-TT-CA c.500_501delinsTG p.K167M Missense 5/5 - 1
12-25362796-T-C c.500A>G p.K167R Missense 5/5 - 1
12-25362796-T-G c.500A>C p.K167T Missense 5/5 - 1
12-25362797-T-A c.499A>T p.K167* Nonsense 5/5 - 1
12-25362797-T-C c.499A>G p.K167E Missense 5/5 - 1
12-25362796-TTA-T c.498_499del p.H166Qfs*9 Frameshift 5/5 - 1
12-25362799-T-A c.497A>T p.H166L Missense 5/5 - 1
12-25362800-G-A c.496C>T p.H166Y Missense 5/5 - 1
12-25362800-G-T c.496C>A p.H166N Missense 5/5 - 1
12-25362800-TG-T c.496del p.H166Ifs*5 Frameshift 5/5 - 1
12-25362801-T-C c.495A>G p.K165= Synonymous 5/5 - 2
12-25362802-T-C c.494A>G p.K165R Missense 5/5 - 1
12-25362802-TT-GC c.493_494delinsGC p.K165A Missense 5/5 - 2
12-25362803-T-C c.493A>G p.K165E Missense 5/5 - 3
12-25362803-T-G c.493A>C p.K165Q Missense 5/5 - 5
12-25362804-TC-AT c.491_492delinsAT p.R164H Missense 5/5 - 1
12-25362804-TCG-ACA c.490_492delinsTGT p.R164C Missense 5/5 - 1
12-25362804-TCG-CCA c.490_492delinsTGG p.R164W Missense 5/5 - 1
12-25362805-C-A c.491G>T p.R164L Missense 5/5 - 2
12-25362805-C-T c.491G>A p.R164Q Missense 5/5 - 32
12-25362806-G-A c.490C>T p.R164* Nonsense 5/5 - 11
12-25362806-G-C c.490C>G p.R164G Missense 5/5 - 1
12-25362806-G-T c.490C>A p.R164= Synonymous 5/5 - 1
12-25362807-A-G c.489T>C p.I163= Synonymous 5/5 - 2
12-25362807-A-T c.489T>A p.I163= Synonymous 5/5 - 2
12-25362807-GAAT-G c.487_489del p.I163del InFrameDeletion 5/5 - 1
12-25362808-A-C c.488T>G p.I163S Missense 5/5 - 1
12-25362808-A-G c.488T>C p.I163T Missense 5/5 - 2
12-25362809-T-C c.487A>G p.I163V Missense 5/5 - 2
12-25362810-T-A c.486A>T p.E162D Missense 5/5 - 1
12-25362810-T-G c.486A>C p.E162D Missense 5/5 - 1
12-25362811-T-A c.485A>T p.E162V Missense 5/5 - 1
12-25362812-C-A c.484G>T p.E162* Nonsense 5/5 - 5
12-25362812-C-G c.484G>C p.E162Q Missense 5/5 - 3
12-25362812-C-T c.484G>A p.E162K Missense 5/5 - 1
12-25362813-TC-AT c.482_483delinsAT p.R161H Missense 5/5 - 2
12-25362813-TCG-CAT c.481_483delinsATG p.R161M Missense 5/5 - 1
12-25362813-TCG-CCA c.481_483delinsTGG p.R161W Missense 5/5 - 2
12-25362813-TCG-GTC c.481_483delinsGAC p.R161D Missense 5/5 - 1
12-25362814-C-A c.482G>T p.R161L Missense 5/5 - 2
12-25362814-C-G c.482G>C p.R161P Missense 5/5 - 1
12-25362814-CG-AT c.481_482delinsAT p.R161I Missense 5/5 - 2
12-25362814-CG-GC c.481_482delinsGC p.R161A Missense 5/5 - 1
12-25362814-CG-TC c.481_482delinsGA p.R161E Missense 5/5 - 6
12-25362814-C-T c.482G>A p.R161Q Missense 5/5 - 2
12-25362813-T-A c.483A>T p.R161= Synonymous 5/5 - 28
12-25362813-T-C c.483A>G p.R161= Synonymous 5/5 - 28
12-25362813-T-G c.483A>C p.R161= Synonymous 5/5 - 28
12-25362815-G-A c.481C>T p.R161* Nonsense 5/5 - 7
12-25362815-G-C c.481C>G p.R161G Missense 5/5 - 3
12-25362815-G-T c.481C>A p.R161= Synonymous 5/5 - 28
12-25362816-AAC-CAT c.478_480delinsATG p.V160M Missense 5/5 - 5
12-25362816-A-C c.480T>G p.V160= Synonymous 5/5 - 1
12-25362816-A-G c.480T>C p.V160= Synonymous 5/5 - 1
12-25362816-A-T c.480T>A p.V160= Synonymous 5/5 - 1
12-25362817-A-G c.479T>C p.V160A Missense 5/5 - 5
12-25362818-C-A c.478G>T p.V160F Missense 5/5 - 1
12-25362818-C-G c.478G>C p.V160L Missense 5/5 - 1
12-25362818-C-T c.478G>A p.V160I Missense 5/5 - 4
12-25362818-C-CT c.477dup p.V160Sfs*8 Frameshift 5/5 - 1
12-25362819-T-A c.477A>T p.L159F Missense 5/5 - 1
12-25362819-T-G c.477A>C p.L159F Missense 5/5 - 1
12-25362820-A-G c.476T>C p.L159S Missense 5/5 - 2
12-25362821-A-G c.475T>C p.L159= Synonymous 5/5 - 1
12-25362822-TG-CA c.473_474inv p.T158M Missense 5/5 - 1
12-25362823-G-A c.473C>T p.T158I Missense 5/5 - 3
12-25362823-G-C c.473C>G p.T158R Missense 5/5 - 1
12-25362823-G-T c.473C>A p.T158K Missense 5/5 - 2
12-25362824-T-A c.472A>T p.T158S Missense 5/5 - 2
12-25362824-T-C c.472A>G p.T158A Missense 5/5 - 6
12-25362824-T-G c.472A>C p.T158P Missense 5/5 - 1
12-25362825-A-G c.471T>C p.Y157= Synonymous 5/5 - 2
12-25362826-TA-GC c.469_470delinsGC p.Y157A Missense 5/5 - 3
12-25362826-T-C c.470A>G p.Y157C Missense 5/5 - 4
12-25362826-T-G c.470A>C p.Y157S Missense 5/5 - 2
12-25362827-A-G c.469T>C p.Y157H Missense 5/5 - 1
12-25362829-A-G c.467T>C p.F156S Missense 5/5 - 1
12-25362829-A-T c.467T>A p.F156Y Missense 5/5 - 1
12-25362828-G-C c.468C>G p.F156L Missense 5/5 - 42
12-25362828-G-T c.468C>A p.F156L Missense 5/5 - 24
12-25362830-A-C c.466T>G p.F156V Missense 5/5 - 5
12-25362830-A-G c.466T>C p.F156L Missense 5/5 - 31
12-25362830-A-T c.466T>A p.F156I Missense 5/5 - 15
12-25362831-G-C c.465C>G p.A155= Synonymous 5/5 - 1
12-25362832-G-A c.464C>T p.A155V Missense 5/5 - 5
12-25362832-G-C c.464C>G p.A155G Missense 5/5 - 2
12-25362832-G-T c.464C>A p.A155D Missense 5/5 - 6
12-25362833-C-A c.463G>T p.A155S Missense 5/5 - 1
12-25362833-C-T c.463G>A p.A155T Missense 5/5 - 1
12-25362834-ATC-TTG c.460_462delinsCAA p.D154Q Missense 5/5 - 17
12-25362835-T-A c.461A>T p.D154V Missense 5/5 - 2
12-25362835-T-C c.461A>G p.D154G Missense 5/5 - 5
12-25362836-C-A c.460G>T p.D154Y Missense 5/5 - 5
12-25362836-C-T c.460G>A p.D154N Missense 5/5 - 8
12-25362837-A-C c.459T>G p.D153E Missense 5/5 - 2
12-25362837-A-T c.459T>A p.D153E Missense 5/5 - 2
12-25362837-ATC-CAT c.457_459delinsATG p.D153M Missense 5/5 - 1
12-25362832-GCAT-G c.461_463del p.D154del InFrameDeletion 5/5 - 7
12-25362837-A-AT c.458dup p.D153Efs*2 Frameshift 5/5 - 1
12-25362838-T-A c.458A>T p.D153V Missense 5/5 - 47
12-25362838-T-C c.458A>G p.D153G Missense 5/5 - 4
12-25362838-TC-CT c.457_458delinsAG p.D153S Missense 5/5 - 1
12-25362838-T-G c.458A>C p.D153A Missense 5/5 - 2
12-25362839-C-A c.457G>T p.D153Y Missense 5/5 - 2
12-25362839-C-T c.457G>A p.D153N Missense 5/5 - 9
12-25362840-A-C c.456T>G p.V152= Synonymous 5/5 - 1
12-25362840-A-G c.456T>C p.V152= Synonymous 5/5 - 1
12-25362840-A-T c.456T>A p.V152= Synonymous 5/5 - 1
12-25362838-TCAA-T c.455_457del p.V152del InFrameDeletion 5/5 - 1
12-25362841-A-C c.455T>G p.V152G Missense 5/5 - 14
12-25362841-A-G c.455T>C p.V152A Missense 5/5 - 3
12-25362842-AC-A c.454del p.V152Lfs*8 Frameshift 5/5 - 1
12-25362842-C-A c.454G>T p.V152F Missense 5/5 - 7
12-25362842-C-T c.454G>A p.V152I Missense 5/5 - 3
12-25362843-A-C c.453T>G p.G151= Synonymous 5/5 - 1
12-25362843-A-G c.453T>C p.G151= Synonymous 5/5 - 1
12-25362843-A-T c.453T>A p.G151= Synonymous 5/5 - 1
12-25362844-C-A c.452G>T p.G151V Missense 5/5 - 2
12-25362844-C-G c.452G>C p.G151A Missense 5/5 - 1
12-25362844-C-T c.452G>A p.G151D Missense 5/5 - 3
12-25362845-C-A c.451G>T p.G151C Missense 5/5 - 1
12-25362845-C-G c.451G>C p.G151R Missense 5/5 - 2
12-25362845-C-T c.451G>A p.G151S Missense 5/5 - 2
12-25362854-C-T c.451-9G>A - IntronicSNV - 4/4 15
12-25362856-T-C c.451-11A>G - IntronicSNV - 4/4 1
12-25363085-C-T c.451-240G>A - IntronicSNV - 4/4 2
12-25363263-A-G c.451-418T>C - IntronicSNV - 4/4 1
12-25363389-T-A c.451-544A>T - IntronicSNV - 4/4 1
12-25364863-C-T c.451-2018G>A - IntronicSNV - 4/4 1
12-25364978-T-C c.451-2133A>G - IntronicSNV - 4/4 3
12-25365112-C-G c.451-2267G>C - IntronicSNV - 4/4 1
12-25365195-T-C c.451-2350A>G - IntronicSNV - 4/4 1
12-25365223-A-G c.451-2378T>C - IntronicSNV - 4/4 3
12-25365450-G-A c.451-2605C>T - IntronicSNV - 4/4 1
12-25365675-G-C c.451-2830C>G - IntronicSNV - 4/4 1
12-25365675-G-T c.451-2830C>A - IntronicSNV - 4/4 1
12-25365751-G-A c.451-2906C>T - IntronicSNV - 4/4 1
12-25365761-G-A c.451-2916C>T - IntronicSNV - 4/4 1
12-25365768-C-T c.451-2923G>A - IntronicSNV - 4/4 1
12-25366021-T-C c.451-3176A>G - IntronicSNV - 4/4 1
12-25366300-T-C c.451-3455A>G - IntronicSNV - 4/4 1
12-25366660-T-C c.451-3815A>G - IntronicSNV - 4/4 1
12-25366805-G-A c.451-3960C>T - IntronicSNV - 4/4 4
12-25366902-T-C c.451-4057A>G - IntronicSNV - 4/4 1
12-25367611-C-T c.451-4766G>A - IntronicSNV - 4/4 1
12-25367624-A-C c.451-4779T>G - IntronicSNV - 4/4 1
12-25367653-C-T c.451-4808G>A - IntronicSNV - 4/4 1
12-25367669-G-A c.451-4824C>T - IntronicSNV - 4/4 3
12-25367838-A-C c.451-4993T>G - IntronicSNV - 4/4 1
12-25367966-C-G c.451-5121G>C - IntronicSNV - 4/4 1
12-25368084-T-A c.451-5239A>T - IntronicSNV - 4/4 3
12-25368084-T-C c.451-5239A>G - IntronicSNV - 4/4 3
12-25368366-C-T c.451-5521G>A - IntronicSNV - 4/4 2
12-25368380-T-G c.451-5535A>C - IntronicSNV - 4/4 3
12-25368383-T-C c.451-5538A>G - IntronicSNV - 4/4 1
12-25368386-T-C c.451-5541A>G - IntronicSNV - 4/4 2
12-25368387-G-A c.451-5542C>T - IntronicSNV - 4/4 1
12-25368389-A-AT c.451-5545dup - IntronicInsertion - 4/4 1
12-25368398-T-C c.451-5553A>G - IntronicSNV - 4/4 2
12-25368401-T-C c.451-5556A>G - IntronicSNV - 4/4 1
12-25368405-A-T c.451-5560T>A - IntronicSNV - 4/4 4
12-25368410-C-T c.451-5565G>A - IntronicSNV - 4/4 4
12-25368413-G-A c.451-5568C>T - IntronicSNV - 4/4 2
12-25368425-C-T c.451-5580G>A - IntronicSNV - 4/4 3
12-25368431-T-A c.451-5586A>T - IntronicSNV - 4/4 1
12-25368432-G-A c.451-5587C>T - IntronicSNV - 4/4 1
12-25368432-G-C c.451-5587C>G - IntronicSNV - 4/4 1
12-25368433-A-G c.451-5588T>C - IntronicSNV - 4/4 1
12-25368437-T-C c.451-5592A>G - IntronicSNV - 4/4 1
12-25368449-A-G c.451-5604T>C - IntronicSNV - 4/4 2
12-25368449-A-T c.451-5604T>A - IntronicSNV - 4/4 2
12-25368451-T-C c.451-5606A>G - IntronicSNV - 4/4 1
12-25368455-G-A c.451-5610C>T - IntronicSNV - 4/4 2
12-25368462-C-T c.451-5617G>A - IntronicSNV - 4/4 44
12-25368466-A-G c.451-5621T>C - IntronicSNV - 4/4 2
12-25368467-C-T c.451-5622G>A - IntronicSNV - 4/4 1
12-25368472-G-A c.451-5627C>T - IntronicSNV - 4/4 1
12-25368473-T-G c.451-5628A>C - IntronicSNV - 4/4 1
12-25368484-T-C c.451-5639A>G - IntronicSNV - 4/4 1
12-25368774-G-A c.451-5929C>T - IntronicSNV - 4/4 1
12-25369027-C-T c.451-6182G>A - IntronicSNV - 4/4 1
12-25369166-G-T c.451-6321C>A - IntronicSNV - 4/4 1
12-25369234-G-A c.451-6389C>T - IntronicSNV - 4/4 1
12-25369609-T-G c.451-6764A>C - IntronicSNV - 4/4 1
12-25369617-A-G c.451-6772T>C - IntronicSNV - 4/4 2
12-25369703-T-C c.451-6858A>G - IntronicSNV - 4/4 3
12-25370249-T-G c.451-7404A>C - IntronicSNV - 4/4 2
12-25370426-C-T c.451-7581G>A - IntronicSNV - 4/4 1
12-25371340-T-A c.450+7208A>T - IntronicSNV - 4/4 1
12-25371462-C-T c.450+7086G>A - IntronicSNV - 4/4 2
12-25371855-T-TG c.450+6692_450+6693insC - IntronicInsertion - 4/4 1
12-25371904-C-T c.450+6644G>A - IntronicSNV - 4/4 1
12-25371956-C-T c.450+6592G>A - IntronicSNV - 4/4 1
12-25372109-A-T c.450+6439T>A - IntronicSNV - 4/4 1
12-25372195-T-C c.450+6353A>G - IntronicSNV - 4/4 1
12-25372593-T-C c.450+5955A>G - IntronicSNV - 4/4 1
12-25372834-T-C c.450+5714A>G - IntronicSNV - 4/4 1
12-25373126-T-C c.450+5422A>G - IntronicSNV - 4/4 1
12-25373142-G-C c.450+5406C>G - IntronicSNV - 4/4 1
12-25373194-A-C c.450+5354T>G - IntronicSNV - 4/4 1
12-25373194-A-G c.450+5354T>C - IntronicSNV - 4/4 1
12-25373194-A-T c.450+5354T>A - IntronicSNV - 4/4 1
12-25373400-C-G c.450+5148G>C - IntronicSNV - 4/4 1
12-25373400-C-T c.450+5148G>A - IntronicSNV - 4/4 1
12-25373630-C-T c.450+4918G>A - IntronicSNV - 4/4 1
12-25373725-C-G c.450+4823G>C - IntronicSNV - 4/4 1
12-25374176-T-C c.450+4372A>G - IntronicSNV - 4/4 3
12-25374180-T-G c.450+4368A>C - IntronicSNV - 4/4 1
12-25374185-G-T c.450+4363C>A - IntronicSNV - 4/4 1
12-25374188-A-G c.450+4360T>C - IntronicSNV - 4/4 1
12-25374189-C-T c.450+4359G>A - IntronicSNV - 4/4 1
12-25374190-A-G c.450+4358T>C - IntronicSNV - 4/4 1
12-25374192-A-G c.450+4356T>C - IntronicSNV - 4/4 1
12-25374195-C-T c.450+4353G>A - IntronicSNV - 4/4 1
12-25374197-C-T c.450+4351G>A - IntronicSNV - 4/4 3
12-25374198-G-A c.450+4350C>T - IntronicSNV - 4/4 1
12-25374201-C-T c.450+4347G>A - IntronicSNV - 4/4 1
12-25374202-CGGTCGT-C c.450+4341_450+4346del - IntronicDeletion - 4/4 1
12-25374202-G-T c.450+4346C>A - IntronicSNV - 4/4 1
12-25374205-C-T c.450+4343G>A - IntronicSNV - 4/4 1
12-25374206-CGT-C c.450+4341_450+4342del - IntronicDeletion - 4/4 1
12-25374207-T-C c.450+4341A>G - IntronicSNV - 4/4 1
12-25374217-T-A c.450+4331A>T - IntronicSNV - 4/4 1
12-25374223-C-A c.450+4325G>T - IntronicSNV - 4/4 1
12-25374223-C-G c.450+4325G>C - IntronicSNV - 4/4 1
12-25374228-T-A c.450+4320A>T - IntronicSNV - 4/4 1
12-25374228-T-G c.450+4320A>C - IntronicSNV - 4/4 1
12-25374229-T-C c.450+4319A>G - IntronicSNV - 4/4 1
12-25374235-G-C c.450+4313C>G - IntronicSNV - 4/4 1
12-25374244-A-G c.450+4304T>C - IntronicSNV - 4/4 1
12-25374247-G-A c.450+4301C>T - IntronicSNV - 4/4 1
12-25374812-C-A c.450+3736G>T - IntronicSNV - 4/4 1
12-25374812-C-T c.450+3736G>A - IntronicSNV - 4/4 1
12-25374917-A-G c.450+3631T>C - IntronicSNV - 4/4 1
12-25374933-T-A c.450+3615A>T - IntronicSNV - 4/4 1
12-25375061-C-T c.450+3487G>A - IntronicSNV - 4/4 1
12-25375522-T-C c.450+3026A>G - IntronicSNV - 4/4 1
12-25375799-C-A c.450+2749G>T - IntronicSNV - 4/4 4
12-25375799-C-T c.450+2749G>A - IntronicSNV - 4/4 4
12-25375946-G-C c.450+2602C>G - IntronicSNV - 4/4 1
12-25376000-G-A c.450+2548C>T - IntronicSNV - 4/4 1
12-25376216-C-T c.450+2332G>A - IntronicSNV - 4/4 1
12-25376229-T-A c.450+2319A>T - IntronicSNV - 4/4 1
12-25376329-A-G c.450+2219T>C - IntronicSNV - 4/4 2
12-25376475-T-C c.450+2073A>G - IntronicSNV - 4/4 1
12-25377127-A-C c.450+1421T>G - IntronicSNV - 4/4 1
12-25377127-A-G c.450+1421T>C - IntronicSNV - 4/4 1
12-25377129-A-C c.450+1419T>G - IntronicSNV - 4/4 1
12-25377131-A-C c.450+1417T>G - IntronicSNV - 4/4 1
12-25377692-C-T c.450+856G>A - IntronicSNV - 4/4 1
12-25378026-G-A c.450+522C>T - IntronicSNV - 4/4 1
12-25378280-GA-G c.450+267del - IntronicDeletion - 4/4 1
12-25378290-TCCCCA-T c.450+253_450+257del - IntronicDeletion - 4/4 1
12-25378456-T-C c.450+92A>G - IntronicSNV - 4/4 5
12-25378464-T-C c.450+84A>G - IntronicSNV - 4/4 1
12-25378482-T-C c.450+66A>G - IntronicSNV - 4/4 1
12-25378517-A-G c.450+31T>C - IntronicSNV - 4/4 1
12-25378547-C-A c.450+1G>T - IntronicSNV - 4/4 1
12-25378547-C-T c.450+1G>A - IntronicSNV - 4/4 1
12-25378548-C-A c.450G>T p.Q150H Missense 4/5 - 1
12-25378548-C-T c.450G>A p.Q150= Synonymous 4/5 - 2
12-25378549-T-C c.449A>G p.Q150R Missense 4/5 - 2
12-25378549-TG-GA c.448_449delinsTC p.Q150S Missense 4/5 - 1
12-25378550-G-A c.448C>T p.Q150* Nonsense 4/5 - 3
12-25378551-T-C c.447A>G p.R149= Synonymous 4/5 - 1
12-25378551-TCT-ACA c.445_447delinsTGT p.R149C Missense 4/5 - 1
12-25378551-TCT-ATG c.445_447delinsCAT p.R149H Missense 4/5 - 2
12-25378551-TCT-CCA c.445_447delinsTGG p.R149W Missense 4/5 - 3
12-25378551-TCT-GTC c.445_447delinsGAC p.R149D Missense 4/5 - 1
12-25378553-T-G c.445A>C p.R149= Synonymous 4/5 - 1
12-25378552-C-A c.446G>T p.R149I Missense 4/5 - 4
12-25378552-C-T c.446G>A p.R149K Missense 4/5 - 4
12-25378553-T-C c.445A>G p.R149G Missense 4/5 - 7
12-25378554-T-A c.444A>T p.T148= Synonymous 4/5 - 1
12-25378554-T-C c.444A>G p.T148= Synonymous 4/5 - 3
12-25378554-T-G c.444A>C p.T148= Synonymous 4/5 - 1
12-25378555-G-A c.443C>T p.T148I Missense 4/5 - 2
12-25378555-G-C c.443C>G p.T148R Missense 4/5 - 1
12-25378555-GT-TC c.442_443delinsGA p.T148E Missense 4/5 - 1
12-25378556-T-A c.442A>T p.T148S Missense 4/5 - 2
12-25378556-T-C c.442A>G p.T148A Missense 4/5 - 5
12-25378556-T-G c.442A>C p.T148P Missense 4/5 - 1
12-25378557-C-A c.441G>T p.K147N Missense 4/5 - 9
12-25378557-C-G c.441G>C p.K147N Missense 4/5 - 9
12-25378557-C-T c.441G>A p.K147= Synonymous 4/5 - 2
12-25378557-CTT-ACA c.439_441delinsTGT p.K147C Missense 4/5 - 1
12-25378557-CTT-GTC c.439_441delinsGAC p.K147D Missense 4/5 - 2
12-25378558-T-C c.440A>G p.K147R Missense 4/5 - 12
12-25378558-T-G c.440A>C p.K147T Missense 4/5 - 1
12-25378558-TT-AG c.439_440delinsCT p.K147L Missense 4/5 - 3
12-25378558-TT-GC c.439_440delinsGC p.K147A Missense 4/5 - 2
12-25378559-T-C c.439A>G p.K147E Missense 4/5 - 24
12-25378559-T-G c.439A>C p.K147Q Missense 4/5 - 4
12-25378560-T-A c.438A>T p.A146= Synonymous 4/5 - 3
12-25378560-T-C c.438A>G p.A146= Synonymous 4/5 - 4
12-25378560-T-G c.438A>C p.A146= Synonymous 4/5 - 7
12-25378560-TGC-GTT c.436_438delinsAAC p.A146N Missense 4/5 - 1
12-25378560-TG-GT c.437_438delinsAC p.A146D Missense 4/5 - 2
12-25378561-G-A c.437C>T p.A146V Missense 4/5 - 293
12-25378561-G-C c.437C>G p.A146G Missense 4/5 - 8
12-25378561-GC-TA c.436_437delinsTA p.A146* Nonsense 4/5 - 8
12-25378561-GC-TT c.436_437delinsAA p.A146K Missense 4/5 - 1
12-25378561-G-T c.437C>A p.A146E Missense 4/5 - 7
12-25378562-C-A c.436G>T p.A146S Missense 4/5 - 28
12-25378562-C-G c.436G>C p.A146P Missense 4/5 - 164
12-25378562-C-T c.436G>A p.A146T Missense 4/5 - 587
12-25378562-GC-G c.436del p.A146Qfs*14 Frameshift 4/5 - 1
12-25378562-C-CT c.435dup p.A146Sfs*8 Frameshift 4/5 - 1
12-25378563-T-A c.435A>T p.S145= Synonymous 4/5 - 1
12-25378563-T-C c.435A>G p.S145= Synonymous 4/5 - 2
12-25378563-T-G c.435A>C p.S145= Synonymous 4/5 - 1
12-25378564-G-A c.434C>T p.S145L Missense 4/5 - 5
12-25378564-G-T c.434C>A p.S145* Nonsense 4/5 - 1
12-25378565-A-C c.433T>G p.S145A Missense 4/5 - 3
12-25378565-A-G c.433T>C p.S145P Missense 4/5 - 1
12-25378565-A-T c.433T>A p.S145T Missense 4/5 - 2
12-25378566-T-A c.432A>T p.T144= Synonymous 4/5 - 2
12-25378566-T-C c.432A>G p.T144= Synonymous 4/5 - 2
12-25378566-T-G c.432A>C p.T144= Synonymous 4/5 - 3
12-25378566-TG-GT c.431_432delinsAC p.T144N Missense 4/5 - 1
12-25378566-T-TG c.431dup p.S145Ifs*9 Frameshift 4/5 - 1
12-25378567-G-A c.431C>T p.T144I Missense 4/5 - 6
12-25378567-G-C c.431C>G p.T144R Missense 4/5 - 1
12-25378567-GT-TC c.430_431delinsGA p.T144E Missense 4/5 - 1
12-25378568-T-A c.430A>T p.T144S Missense 4/5 - 1
12-25378568-T-C c.430A>G p.T144A Missense 4/5 - 5
12-25378568-T-G c.430A>C p.T144P Missense 4/5 - 1
12-25378569-T-C c.429A>G p.E143= Synonymous 4/5 - 3
12-25378567-GT-G c.430del p.T144Hfs*16 Frameshift 4/5 - 2
12-25378570-T-C c.428A>G p.E143G Missense 4/5 - 3
12-25378571-C-A c.427G>T p.E143* Nonsense 4/5 - 1
12-25378571-C-T c.427G>A p.E143K Missense 4/5 - 5
12-25378572-A-G c.426T>C p.I142= Synonymous 4/5 - 1
12-25378572-A-T c.426T>A p.I142= Synonymous 4/5 - 1
12-25378573-A-G c.425T>C p.I142T Missense 4/5 - 2
12-25378573-A-T c.425T>A p.I142N Missense 4/5 - 1
12-25378575-A-G c.423T>C p.F141= Synonymous 4/5 - 2
12-25378575-A-T c.423T>A p.F141L Missense 4/5 - 7
12-25378576-AA-GC c.421_422delinsGC p.F141A Missense 4/5 - 1
12-25378576-A-G c.422T>C p.F141S Missense 4/5 - 2
12-25378576-A-T c.422T>A p.F141Y Missense 4/5 - 1
12-25378574-TAA-T c.422_423del p.F141Yfs*2 Frameshift 4/5 - 1
12-25378575-A-C c.423T>G p.F141L Missense 4/5 - 3
12-25378577-A-C c.421T>G p.F141V Missense 4/5 - 1
12-25378577-A-G c.421T>C p.F141L Missense 4/5 - 3
12-25378574-TA-T c.423del p.F141Lfs*19 Frameshift 4/5 - 1
12-25378578-A-C c.420T>G p.P140= Synonymous 4/5 - 2
12-25378578-A-G c.420T>C p.P140= Synonymous 4/5 - 2
12-25378578-A-T c.420T>A p.P140= Synonymous 4/5 - 2
12-25378579-G-A c.419C>T p.P140L Missense 4/5 - 2
12-25378579-G-C c.419C>G p.P140R Missense 4/5 - 1
12-25378579-G-T c.419C>A p.P140H Missense 4/5 - 7
12-25378580-G-A c.418C>T p.P140S Missense 4/5 - 6
12-25378580-G-T c.418C>A p.P140T Missense 4/5 - 1
12-25378581-A-C c.417T>G p.I139M Missense 4/5 - 1
12-25378581-A-G c.417T>C p.I139= Synonymous 4/5 - 1
12-25378581-A-T c.417T>A p.I139= Synonymous 4/5 - 1
12-25378582-A-C c.416T>G p.I139S Missense 4/5 - 1
12-25378582-A-G c.416T>C p.I139T Missense 4/5 - 1
12-25378582-A-T c.416T>A p.I139N Missense 4/5 - 1
12-25378583-T-A c.415A>T p.I139F Missense 4/5 - 1
12-25378583-T-C c.415A>G p.I139V Missense 4/5 - 2
12-25378584-T-A c.414A>T p.G138= Synonymous 4/5 - 2
12-25378584-T-C c.414A>G p.G138= Synonymous 4/5 - 3
12-25378584-T-G c.414A>C p.G138= Synonymous 4/5 - 2
12-25378585-C-A c.413G>T p.G138V Missense 4/5 - 5
12-25378585-C-G c.413G>C p.G138A Missense 4/5 - 2
12-25378585-C-T c.413G>A p.G138E Missense 4/5 - 9
12-25378586-C-A c.412G>T p.G138* Nonsense 4/5 - 1
12-25378586-C-CGG c.411_412insCC p.G138Pfs*23 Frameshift 4/5 - 1
12-25378586-C-G c.412G>C p.G138R Missense 4/5 - 8
12-25378586-C-T c.412G>A p.G138R Missense 4/5 - 6
12-25378586-C-CA c.411dup p.G138Wfs*6 Frameshift 4/5 - 1
12-25378587-A-C c.411T>G p.Y137* Nonsense 4/5 - 1
12-25378587-A-G c.411T>C p.Y137= Synonymous 4/5 - 3
12-25378587-A-T c.411T>A p.Y137* Nonsense 4/5 - 2
12-25378587-AT-CC c.410_411delinsGG p.Y137W Missense 4/5 - 1
12-25378588-AT-A c.410del p.Y137Lfs*23 Frameshift 4/5 - 1
12-25378588-T-C c.410A>G p.Y137C Missense 4/5 - 2
12-25378589-A-G c.409T>C p.Y137H Missense 4/5 - 1
12-25378590-AAC-A c.407_408del p.S136Ifs*7 Frameshift 4/5 - 1
12-25378590-A-G c.408T>C p.S136= Synonymous 4/5 - 1
12-25378591-ACTTCTTGCTAAGTCCT-A c.392_407del p.Q131Lfs*24 Frameshift 4/5 - 2
12-25378591-C-A c.407G>T p.S136I Missense 4/5 - 1
12-25378591-C-T c.407G>A p.S136N Missense 4/5 - 8
12-25378591-C-CTAA c.406_407insTTA p.R135_S136insI InFrameInsertion 4/5 - 1
12-25378592-T-C c.406A>G p.S136G Missense 4/5 - 3
12-25378592-T-G c.406A>C p.S136R Missense 4/5 - 1
12-25378593-T-C c.405A>G p.R135= Synonymous 4/5 - 2
12-25378593-TCT-ACA c.403_405delinsTGT p.R135C Missense 4/5 - 1
12-25378593-TCT-CCA c.403_405delinsTGG p.R135W Missense 4/5 - 1
12-25378595-T-G c.403A>C p.R135= Synonymous 4/5 - 1
12-25378594-C-A c.404G>T p.R135I Missense 4/5 - 3
12-25378594-C-G c.404G>C p.R135T Missense 4/5 - 8
12-25378594-C-T c.404G>A p.R135K Missense 4/5 - 11
12-25378594-CT-AG c.403_404inv p.R135L Missense 4/5 - 1
12-25378594-CT-GC c.403_404delinsGC p.R135A Missense 4/5 - 4
12-25378594-CT-TC c.403_404delinsGA p.R135E Missense 4/5 - 4
12-25378594-CT-TG c.403_404delinsCA p.R135Q Missense 4/5 - 1
12-25378595-T-A c.403A>T p.R135* Nonsense 4/5 - 2
12-25378595-T-C c.403A>G p.R135G Missense 4/5 - 7
12-25378595-T-TA c.402_403insT p.R135* Nonsense 4/5 - 1
12-25378596-T-A c.402A>T p.A134= Synonymous 4/5 - 1
12-25378596-T-C c.402A>G p.A134= Synonymous 4/5 - 1
12-25378596-T-G c.402A>C p.A134= Synonymous 4/5 - 1
12-25378597-G-A c.401C>T p.A134V Missense 4/5 - 7
12-25378597-G-C c.401C>G p.A134G Missense 4/5 - 2
12-25378598-C-A c.400G>T p.A134S Missense 4/5 - 3
12-25378598-C-G c.400G>C p.A134P Missense 4/5 - 1
12-25378598-C-T c.400G>A p.A134T Missense 4/5 - 8
12-25378599-T-A c.399A>T p.L133F Missense 4/5 - 2
12-25378599-T-C c.399A>G p.L133= Synonymous 4/5 - 2
12-25378600-AA-GT c.397_398delinsAC p.L133T Missense 4/5 - 1
12-25378600-AA-TG c.397_398delinsCA p.L133Q Missense 4/5 - 1
12-25378600-A-C c.398T>G p.L133* Nonsense 4/5 - 1
12-25378600-A-G c.398T>C p.L133S Missense 4/5 - 2
12-25378601-A-G c.397T>C p.L133= Synonymous 4/5 - 1
12-25378602-AG-A c.396del p.L133* Frameshift 4/5 - 1
12-25378602-G-A c.396C>T p.D132= Synonymous 4/5 - 1
12-25378602-G-C c.396C>G p.D132E Missense 4/5 - 3
12-25378602-G-T c.396C>A p.D132E Missense 4/5 - 5
12-25378602-G-GT c.395dup p.D132Efs*12 Frameshift 4/5 - 1
12-25378603-T-A c.395A>T p.D132V Missense 4/5 - 1
12-25378603-T-C c.395A>G p.D132G Missense 4/5 - 5
12-25378603-TC-AT c.394_395delinsAT p.D132I Missense 4/5 - 1
12-25378603-TC-CA c.394_395delinsTG p.D132C Missense 4/5 - 1
12-25378604-C-A c.394G>T p.D132Y Missense 4/5 - 2
12-25378604-C-G c.394G>C p.D132H Missense 4/5 - 1
12-25378604-C-T c.394G>A p.D132N Missense 4/5 - 2
12-25378605-C-A c.393G>T p.Q131H Missense 4/5 - 3
12-25378605-C-G c.393G>C p.Q131H Missense 4/5 - 3
12-25378605-C-T c.393G>A p.Q131= Synonymous 4/5 - 2
12-25378605-C-CT c.392dup p.D132Gfs*12 Frameshift 4/5 - 1
12-25378606-CT-C c.392del p.Q131Rfs*3 Frameshift 4/5 - 1
12-25378606-T-C c.392A>G p.Q131R Missense 4/5 - 3
12-25378606-T-G c.392A>C p.Q131P Missense 4/5 - 1
12-25378607-G-A c.391C>T p.Q131* Nonsense 4/5 - 2
12-25378607-G-C c.391C>G p.Q131E Missense 4/5 - 3
12-25378609-G-A c.389C>T p.A130V Missense 4/5 - 7
12-25378609-GC-AA c.388_389delinsTT p.A130F Missense 4/5 - 1
12-25378609-GC-AG c.388_389delinsCT p.A130L Missense 4/5 - 1
12-25378609-GC-AT c.388_389delinsAT p.A130I Missense 4/5 - 1
12-25378610-C-A c.388G>T p.A130S Missense 4/5 - 2
12-25378610-C-G c.388G>C p.A130P Missense 4/5 - 2
12-25378610-C-T c.388G>A p.A130T Missense 4/5 - 7
12-25378611-C-A c.387G>T p.Q129H Missense 4/5 - 1
12-25378611-C-T c.387G>A p.Q129= Synonymous 4/5 - 4
12-25378612-T-A c.386A>T p.Q129L Missense 4/5 - 1
12-25378612-T-C c.386A>G p.Q129R Missense 4/5 - 1
12-25378611-CTG-C c.385_386del p.Q129Gfs*14 Frameshift 4/5 - 1
12-25378613-G-A c.385C>T p.Q129* Nonsense 4/5 - 1
12-25378613-G-T c.385C>A p.Q129K Missense 4/5 - 1
12-25378614-T-C c.384A>G p.K128= Synonymous 4/5 - 2
12-25378615-T-C c.383A>G p.K128R Missense 4/5 - 5
12-25378615-T-G c.383A>C p.K128T Missense 4/5 - 1
12-25378616-T-C c.382A>G p.K128E Missense 4/5 - 4
12-25378613-G-GT c.384dup p.Q129Tfs*15 Frameshift 4/5 - 2
12-25378617-T-C c.381A>G p.T127= Synonymous 4/5 - 1
12-25378618-G-A c.380C>T p.T127I Missense 4/5 - 4
12-25378618-G-C c.380C>G p.T127R Missense 4/5 - 4
12-25378618-G-T c.380C>A p.T127K Missense 4/5 - 1
12-25378619-T-A c.379A>T p.T127S Missense 4/5 - 1
12-25378619-T-C c.379A>G p.T127A Missense 4/5 - 1
12-25378616-TTG-T c.380_381del p.T127Kfs*16 Frameshift 4/5 - 1
12-25378620-G-A c.378C>T p.D126= Synonymous 4/5 - 1
12-25378620-G-C c.378C>G p.D126E Missense 4/5 - 4
12-25378620-G-T c.378C>A p.D126E Missense 4/5 - 4
12-25378621-T-A c.377A>T p.D126V Missense 4/5 - 1
12-25378621-T-C c.377A>G p.D126G Missense 4/5 - 1
12-25378622-C-A c.376G>T p.D126Y Missense 4/5 - 2
12-25378622-C-G c.376G>C p.D126H Missense 4/5 - 4
12-25378622-C-T c.376G>A p.D126N Missense 4/5 - 4
12-25378623-TAC-CAT c.373_375delinsATG p.V125M Missense 4/5 - 1
12-25378623-T-C c.375A>G p.V125= Synonymous 4/5 - 1
12-25378624-A-C c.374T>G p.V125G Missense 4/5 - 1
12-25378624-A-G c.374T>C p.V125A Missense 4/5 - 2
12-25378625-AC-A c.373del p.V125* Frameshift 4/5 - 1
12-25378625-C-A c.373G>T p.V125L Missense 4/5 - 1
12-25378625-C-G c.373G>C p.V125L Missense 4/5 - 1
12-25378625-C-T c.373G>A p.V125I Missense 4/5 - 3
12-25378624-ACTGTTCTAGAAGG-A c.361_373del p.P121* Frameshift 4/5 - 1
12-25378627-G-A c.371C>T p.T124I Missense 4/5 - 2
12-25378627-G-C c.371C>G p.T124R Missense 4/5 - 1
12-25378627-G-T c.371C>A p.T124K Missense 4/5 - 1
12-25378628-T-A c.370A>T p.T124S Missense 4/5 - 2
12-25378628-T-C c.370A>G p.T124A Missense 4/5 - 3
12-25378628-T-G c.370A>C p.T124P Missense 4/5 - 1
12-25378629-T-A c.369A>T p.R123S Missense 4/5 - 1
12-25378629-T-C c.369A>G p.R123= Synonymous 4/5 - 1
12-25378629-TCT-ACA c.367_369delinsTGT p.R123C Missense 4/5 - 1
12-25378629-TCT-ATG c.367_369delinsCAT p.R123H Missense 4/5 - 4
12-25378629-TCT-CCA c.367_369delinsTGG p.R123W Missense 4/5 - 4
12-25378629-T-G c.369A>C p.R123S Missense 4/5 - 1
12-25378631-T-G c.367A>C p.R123= Synonymous 4/5 - 1
12-25378630-C-A c.368G>T p.R123I Missense 4/5 - 6
12-25378630-C-T c.368G>A p.R123K Missense 4/5 - 4
12-25378631-T-C c.367A>G p.R123G Missense 4/5 - 1
12-25378632-A-C c.366T>G p.S122= Synonymous 4/5 - 3
12-25378632-A-G c.366T>C p.S122= Synonymous 4/5 - 1
12-25378632-A-T c.366T>A p.S122= Synonymous 4/5 - 2
12-25378632-TA-T c.366del p.R123Efs*3 Frameshift 4/5 - 1
12-25378633-AG-A c.365del p.S122Lfs*4 Frameshift 4/5 - 1
12-25378633-G-A c.365C>T p.S122F Missense 4/5 - 3
12-25378633-GA-AG c.364_365delinsCT p.S122L Missense 4/5 - 1
12-25378633-GA-AT c.364_365delinsAT p.S122I Missense 4/5 - 1
12-25378633-GA-CC c.364_365delinsGG p.S122G Missense 4/5 - 1
12-25378633-GA-TT c.364_365delinsAA p.S122N Missense 4/5 - 2
12-25378633-G-C c.365C>G p.S122C Missense 4/5 - 1
12-25378633-G-T c.365C>A p.S122Y Missense 4/5 - 1
12-25378634-A-C c.364T>G p.S122A Missense 4/5 - 2
12-25378634-A-G c.364T>C p.S122P Missense 4/5 - 1
12-25378634-A-T c.364T>A p.S122T Missense 4/5 - 1
12-25378635-A-C c.363T>G p.P121= Synonymous 4/5 - 1
12-25378635-A-G c.363T>C p.P121= Synonymous 4/5 - 2
12-25378635-AG-T c.362_363delinsA p.P121Hfs*5 Frameshift 4/5 - 1
12-25378635-A-T c.363T>A p.P121= Synonymous 4/5 - 1
12-25378636-G-A c.362C>T p.P121L Missense 4/5 - 1
12-25378636-G-T c.362C>A p.P121H Missense 4/5 - 18
12-25378635-AG-A c.362del p.P121Lfs*5 Frameshift 4/5 - 1
12-25378637-G-A c.361C>T p.P121S Missense 4/5 - 4
12-25378637-G-C c.361C>G p.P121A Missense 4/5 - 1
12-25378637-G-GC c.360dup p.P121Afs*3 Frameshift 4/5 - 1
12-25378638-C-A c.360G>T p.L120F Missense 4/5 - 2
12-25378638-CA-AC c.359_360delinsGT p.L120C Missense 4/5 - 4
12-25378638-C-T c.360G>A p.L120= Synonymous 4/5 - 4
12-25378639-A-C c.359T>G p.L120W Missense 4/5 - 1
12-25378639-A-G c.359T>C p.L120S Missense 4/5 - 2
12-25378639-A-T c.359T>A p.L120* Nonsense 4/5 - 2
12-25378640-A-G c.358T>C p.L120= Synonymous 4/5 - 1
12-25378640-A-T c.358T>A p.L120M Missense 4/5 - 2
12-25378641-A-C c.357T>G p.D119E Missense 4/5 - 1
12-25378641-A-G c.357T>C p.D119= Synonymous 4/5 - 2
12-25378641-A-T c.357T>A p.D119E Missense 4/5 - 1
12-25378642-T-C c.356A>G p.D119G Missense 4/5 - 5
12-25378642-T-G c.356A>C p.D119A Missense 4/5 - 3
12-25378643-C-A c.355G>T p.D119Y Missense 4/5 - 5
12-25378643-C-G c.355G>C p.D119H Missense 4/5 - 6
12-25378643-C-T c.355G>A p.D119N Missense 4/5 - 29
12-25378644-A-G c.354T>C p.C118= Synonymous 4/5 - 3
12-25378644-A-T c.354T>A p.C118* Nonsense 4/5 - 2
12-25378645-AC-A c.353del p.C118Lfs*8 Frameshift 4/5 - 1
12-25378645-C-A c.353G>T p.C118F Missense 4/5 - 1
12-25378645-CA-GC c.352_353delinsGC p.C118A Missense 4/5 - 2
12-25378645-CA-GT c.352_353delinsAC p.C118T Missense 4/5 - 14
12-25378645-CA-TC c.352_353delinsGA p.C118D Missense 4/5 - 2
12-25378645-C-T c.353G>A p.C118Y Missense 4/5 - 8
12-25378645-C-G c.353G>C p.C118S Missense 4/5 - 51
12-25378646-A-G c.352T>C p.C118R Missense 4/5 - 1
12-25378646-A-T c.352T>A p.C118S Missense 4/5 - 50
12-25378647-T-A c.351A>T p.K117N Missense 4/5 - 246
12-25378647-T-C c.351A>G p.K117= Synonymous 4/5 - 2
12-25378647-T-G c.351A>C p.K117N Missense 4/5 - 250
12-25378647-TT-CA c.350_351delinsTG p.K117M Missense 4/5 - 1
12-25378647-TTT-ACA c.349_351delinsTGT p.K117C Missense 4/5 - 1
12-25378647-TTT-GTC c.349_351delinsGAC p.K117D Missense 4/5 - 4
12-25378648-T-A c.350A>T p.K117I Missense 4/5 - 1
12-25378648-T-C c.350A>G p.K117R Missense 4/5 - 41
12-25378648-T-G c.350A>C p.K117T Missense 4/5 - 2
12-25378648-TT-GC c.349_350delinsGC p.K117A Missense 4/5 - 2
12-25378649-T-A c.349A>T p.K117* Nonsense 4/5 - 4
12-25378649-T-C c.349A>G p.K117E Missense 4/5 - 17
12-25378649-T-G c.349A>C p.K117Q Missense 4/5 - 2
12-25378650-A-C c.348T>G p.N116K Missense 4/5 - 1
12-25378650-A-T c.348T>A p.N116K Missense 4/5 - 1
12-25378651-T-C c.347A>G p.N116S Missense 4/5 - 7
12-25378651-T-G c.347A>C p.N116T Missense 4/5 - 1
12-25378651-TT-GC c.346_347delinsGC p.N116A Missense 4/5 - 1
12-25378652-T-A c.346A>T p.N116Y Missense 4/5 - 1
12-25378652-T-C c.346A>G p.N116D Missense 4/5 - 1
12-25378652-T-G c.346A>C p.N116H Missense 4/5 - 17
12-25378650-A-AT c.347dup p.N116Kfs*2 Frameshift 4/5 - 1
12-25378653-T-A c.345A>T p.G115= Synonymous 4/5 - 1
12-25378653-T-C c.345A>G p.G115= Synonymous 4/5 - 2
12-25378653-T-G c.345A>C p.G115= Synonymous 4/5 - 1
12-25378654-C-A c.344G>T p.G115V Missense 4/5 - 4
12-25378654-C-T c.344G>A p.G115E Missense 4/5 - 10
12-25378653-TC-T c.344del p.G115Efs*11 Frameshift 4/5 - 1
12-25378655-C-A c.343G>T p.G115* Nonsense 4/5 - 3
12-25378655-C-G c.343G>C p.G115R Missense 4/5 - 3
12-25378655-C-T c.343G>A p.G115R Missense 4/5 - 3
12-25378656-T-A c.342A>T p.V114= Synonymous 4/5 - 1
12-25378656-T-C c.342A>G p.V114= Synonymous 4/5 - 1
12-25378656-T-G c.342A>C p.V114= Synonymous 4/5 - 1
12-25378657-A-G c.341T>C p.V114A Missense 4/5 - 3
12-25378658-C-A c.340G>T p.V114L Missense 4/5 - 2
12-25378658-C-G c.340G>C p.V114L Missense 4/5 - 2
12-25378658-C-T c.340G>A p.V114I Missense 4/5 - 7
12-25378658-C-CT c.339dup p.V114Sfs*4 Frameshift 4/5 - 1
12-25378659-CT-C c.339del p.V114* Frameshift 4/5 - 1
12-25378659-T-A c.339A>T p.L113= Synonymous 4/5 - 1
12-25378659-TAG-GTC c.337_339delinsGAC p.L113D Missense 4/5 - 1
12-25378659-T-C c.339A>G p.L113= Synonymous 4/5 - 1
12-25378659-T-G c.339A>C p.L113= Synonymous 4/5 - 1
12-25378661-G-A c.337C>T p.L113= Synonymous 4/5 - 1
12-25378660-A-G c.338T>C p.L113P Missense 4/5 - 1
12-25378660-TA-T c.338del p.L113Qfs*2 Frameshift 4/5 - 1
12-25378660-AG-A c.337del p.L113* Frameshift 4/5 - 1
12-25378662-G-A c.336C>T p.V112= Synonymous 4/5 - 3
12-25378662-G-C c.336C>G p.V112= Synonymous 4/5 - 2
12-25378662-G-T c.336C>A p.V112= Synonymous 4/5 - 2
12-25378663-A-G c.335T>C p.V112A Missense 4/5 - 2
12-25378664-C-A c.334G>T p.V112F Missense 4/5 - 4
12-25378664-C-G c.334G>C p.V112L Missense 4/5 - 1
12-25378664-C-T c.334G>A p.V112I Missense 4/5 - 3
12-25378665-C-A c.333G>T p.M111I Missense 4/5 - 4
12-25378665-C-G c.333G>C p.M111I Missense 4/5 - 2
12-25378665-C-T c.333G>A p.M111I Missense 4/5 - 2
12-25378666-A-C c.332T>G p.M111R Missense 4/5 - 1
12-25378666-A-G c.332T>C p.M111T Missense 4/5 - 4
12-25378667-T-A c.331A>T p.M111L Missense 4/5 - 1
12-25378667-T-C c.331A>G p.M111V Missense 4/5 - 2
12-25378667-T-G c.331A>C p.M111L Missense 4/5 - 1
12-25378667-T-TA c.330dup p.M111Yfs*7 Frameshift 4/5 - 1
12-25378668-A-C c.330T>G p.P110= Synonymous 4/5 - 2
12-25378668-A-G c.330T>C p.P110= Synonymous 4/5 - 2
12-25378668-AGG-TTA c.328_330delinsTAA p.P110* Nonsense 4/5 - 6
12-25378668-A-T c.330T>A p.P110= Synonymous 4/5 - 2
12-25378668-TAGG-T c.328_330del p.P110del InFrameDeletion 4/5 - 1
12-25378669-G-A c.329C>T p.P110L Missense 4/5 - 2
12-25378669-G-C c.329C>G p.P110R Missense 4/5 - 1
12-25378669-GG-CA c.328_329delinsTG p.P110C Missense 4/5 - 3
12-25378669-GG-CC c.328_329inv p.P110G Missense 4/5 - 8
12-25378669-GG-TA c.328_329delinsTA p.P110Y Missense 4/5 - 1
12-25378669-GG-TC c.328_329delinsGA p.P110D Missense 4/5 - 14
12-25378669-G-T c.329C>A p.P110H Missense 4/5 - 5
12-25378670-G-A c.328C>T p.P110S Missense 4/5 - 15
12-25378670-G-C c.328C>G p.P110A Missense 4/5 - 63
12-25378670-G-T c.328C>A p.P110T Missense 4/5 - 1
12-25378671-T-A c.327A>T p.V109= Synonymous 4/5 - 4
12-25378671-TAC-ACA c.325_327delinsTGT p.V109C Missense 4/5 - 10
12-25378671-TA-GT c.326_327delinsAC p.V109D Missense 4/5 - 1
12-25378671-T-C c.327A>G p.V109= Synonymous 4/5 - 6
12-25378671-T-G c.327A>C p.V109= Synonymous 4/5 - 3
12-25378672-A-C c.326T>G p.V109G Missense 4/5 - 2
12-25378672-A-G c.326T>C p.V109A Missense 4/5 - 4
12-25378672-A-T c.326T>A p.V109E Missense 4/5 - 2
12-25378673-C-A c.325G>T p.V109L Missense 4/5 - 1
12-25378673-C-T c.325G>A p.V109I Missense 4/5 - 4
12-25378674-A-G c.324T>C p.D108= Synonymous 4/5 - 2
12-25378675-T-A c.323A>T p.D108V Missense 4/5 - 2
12-25378675-T-C c.323A>G p.D108G Missense 4/5 - 2
12-25378675-T-G c.323A>C p.D108A Missense 4/5 - 1
12-25378676-C-A c.322G>T p.D108Y Missense 4/5 - 7
12-25378676-C-G c.322G>C p.D108H Missense 4/5 - 1
12-25378676-C-T c.322G>A p.D108N Missense 4/5 - 5
12-25378677-T-A c.321A>T p.E107D Missense 4/5 - 4
12-25378677-T-C c.321A>G p.E107= Synonymous 4/5 - 1
12-25378677-T-G c.321A>C p.E107D Missense 4/5 - 3
12-25378678-T-C c.320A>G p.E107G Missense 4/5 - 3
12-25378678-T-G c.320A>C p.E107A Missense 4/5 - 1
12-25378679-C-A c.319G>T p.E107* Nonsense 4/5 - 1
12-25378679-C-T c.319G>A p.E107K Missense 4/5 - 10
12-25378680-A-C c.318T>G p.S106= Synonymous 4/5 - 1
12-25378680-A-G c.318T>C p.S106= Synonymous 4/5 - 2
12-25378680-A-T c.318T>A p.S106= Synonymous 4/5 - 1
12-25378681-G-A c.317C>T p.S106F Missense 4/5 - 2
12-25378681-GA-AG c.316_317delinsCT p.S106L Missense 4/5 - 1
12-25378681-GA-TT c.316_317delinsAA p.S106N Missense 4/5 - 1
12-25378681-G-C c.317C>G p.S106C Missense 4/5 - 2
12-25378681-G-GA c.316dup p.S106Ffs*2 Frameshift 4/5 - 1
12-25378682-A-G c.316T>C p.S106P Missense 4/5 - 2
12-25378683-G-A c.315C>T p.D105= Synonymous 4/5 - 1
12-25378683-G-C c.315C>G p.D105E Missense 4/5 - 1
12-25378683-G-T c.315C>A p.D105E Missense 4/5 - 1
12-25378684-T-A c.314A>T p.D105V Missense 4/5 - 1
12-25378684-T-C c.314A>G p.D105G Missense 4/5 - 2
12-25378685-C-A c.313G>T p.D105Y Missense 4/5 - 2
12-25378685-C-T c.313G>A p.D105N Missense 4/5 - 2
12-25378686-C-A c.312G>T p.K104N Missense 4/5 - 3
12-25378686-CCTT-C c.310_312del p.K104del InFrameDeletion 4/5 - 1
12-25378686-C-G c.312G>C p.K104N Missense 4/5 - 1
12-25378686-C-T c.312G>A p.K104= Synonymous 4/5 - 1
12-25378686-CTT-ACA c.310_312delinsTGT p.K104C Missense 4/5 - 2
12-25378687-T-A c.311A>T p.K104M Missense 4/5 - 2
12-25378687-T-C c.311A>G p.K104R Missense 4/5 - 3
12-25378687-TT-GC c.310_311delinsGC p.K104A Missense 4/5 - 3
12-25378686-CT-C c.311del p.K104Rfs*10 Frameshift 4/5 - 2
12-25378688-T-A c.310A>T p.K104* Nonsense 4/5 - 2
12-25378688-T-C c.310A>G p.K104E Missense 4/5 - 2
12-25378688-T-G c.310A>C p.K104Q Missense 4/5 - 18
12-25378689-AAC-CAT c.307_309delinsATG p.V103M Missense 4/5 - 1
12-25378689-A-C c.309T>G p.V103= Synonymous 4/5 - 3
12-25378689-A-G c.309T>C p.V103= Synonymous 4/5 - 1
12-25378689-A-T c.309T>A p.V103= Synonymous 4/5 - 2
12-25378689-TAAC-T c.307_309del p.V103del InFrameDeletion 4/5 - 1
12-25378690-AC-CA c.307_308delinsTG p.V103C Missense 4/5 - 1
12-25378690-A-G c.308T>C p.V103A Missense 4/5 - 2
12-25378691-C-A c.307G>T p.V103F Missense 4/5 - 2
12-25378691-C-T c.307G>A p.V103I Missense 4/5 - 2
12-25378692-T-A c.306A>T p.R102S Missense 4/5 - 2
12-25378692-T-C c.306A>G p.R102= Synonymous 4/5 - 3
12-25378692-TCT-ACA c.304_306delinsTGT p.R102C Missense 4/5 - 2
12-25378692-TCT-CCA c.304_306delinsTGG p.R102W Missense 4/5 - 1
12-25378692-T-G c.306A>C p.R102S Missense 4/5 - 1
12-25378694-T-G c.304A>C p.R102= Synonymous 4/5 - 3
12-25378693-C-A c.305G>T p.R102I Missense 4/5 - 1
12-25378693-C-G c.305G>C p.R102T Missense 4/5 - 1
12-25378693-C-T c.305G>A p.R102K Missense 4/5 - 3
12-25378693-CT-AG c.304_305inv p.R102L Missense 4/5 - 1
12-25378693-CT-GC c.304_305delinsGC p.R102A Missense 4/5 - 1
12-25378693-CT-TC c.304_305delinsGA p.R102E Missense 4/5 - 1
12-25378693-CT-TG c.304_305delinsCA p.R102Q Missense 4/5 - 2
12-25378694-T-A c.304A>T p.R102* Nonsense 4/5 - 1
12-25378694-T-C c.304A>G p.R102G Missense 4/5 - 2
12-25378695-T-C c.303A>G p.K101= Synonymous 4/5 - 1
12-25378695-TT-CA c.302_303delinsTG p.K101M Missense 4/5 - 1
12-25378695-TTT-ACA c.301_303delinsTGT p.K101C Missense 4/5 - 5
12-25378695-TTT-GTC c.301_303delinsGAC p.K101D Missense 4/5 - 1
12-25378696-T-C c.302A>G p.K101R Missense 4/5 - 1
12-25378696-TT-GC c.301_302delinsGC p.K101A Missense 4/5 - 1
12-25378697-T-C c.301A>G p.K101E Missense 4/5 - 5
12-25378697-T-G c.301A>C p.K101Q Missense 4/5 - 1
12-25378696-TTAA-T c.299_301del p.I100del InFrameDeletion 4/5 - 1
12-25378698-A-C c.300T>G p.I100M Missense 4/5 - 1
12-25378699-A-C c.299T>G p.I100S Missense 4/5 - 1
12-25378699-A-G c.299T>C p.I100T Missense 4/5 - 1
12-25378699-A-T c.299T>A p.I100N Missense 4/5 - 2
12-25378700-T-A c.298A>T p.I100F Missense 4/5 - 1
12-25378700-T-C c.298A>G p.I100V Missense 4/5 - 2
12-25378701-T-A c.297A>T p.Q99H Missense 4/5 - 2
12-25378701-T-C c.297A>G p.Q99= Synonymous 4/5 - 1
12-25378701-T-G c.297A>C p.Q99H Missense 4/5 - 2
12-25378701-TTG-AAA c.295_297delinsTTT p.Q99F Missense 4/5 - 2
12-25378701-TTG-CCA c.295_297delinsTGG p.Q99W Missense 4/5 - 1
12-25378699-AT-A c.298del p.I100Lfs*14 Frameshift 4/5 - 1
12-25378702-T-A c.296A>T p.Q99L Missense 4/5 - 18
12-25378702-T-C c.296A>G p.Q99R Missense 4/5 - 3
12-25378702-TG-GC c.295_296delinsGC p.Q99A Missense 4/5 - 2
12-25378703-G-A c.295C>T p.Q99* Nonsense 4/5 - 8
12-25378703-G-C c.295C>G p.Q99E Missense 4/5 - 1
12-25378703-G-T c.295C>A p.Q99K Missense 4/5 - 2
12-25378704-T-A c.294A>T p.E98D Missense 4/5 - 1
12-25378704-T-C c.294A>G p.E98= Synonymous 4/5 - 1
12-25378703-GT-G c.294del p.E98Dfs*16 Frameshift 4/5 - 1
12-25378705-T-C c.293A>G p.E98G Missense 4/5 - 1
12-25378706-C-A c.292G>T p.E98* Nonsense 4/5 - 10
12-25378706-C-G c.292G>C p.E98Q Missense 4/5 - 1
12-25378706-C-T c.292G>A p.E98K Missense 4/5 - 4
12-25378707-T-A c.291A>T p.R97S Missense 4/5 - 1
12-25378707-T-C c.291A>G p.R97= Synonymous 4/5 - 2
12-25378707-T-G c.291A>C p.R97S Missense 4/5 - 1
12-25380169-T-G c.289A>C p.R97= Synonymous 3/5 - 2
12-25378869-T-G c.291-162A>C - IntronicSNV - 3/4 1
12-25379033-T-G c.291-326A>C - IntronicSNV - 3/4 1
12-25379362-G-A c.291-655C>T - IntronicSNV - 3/4 1
12-25379368-G-A c.291-661C>T - IntronicSNV - 3/4 3
12-25379637-T-C c.290+531A>G - IntronicSNV - 3/4 1
12-25379639-T-C c.290+529A>G - IntronicSNV - 3/4 1
12-25379793-C-T c.290+375G>A - IntronicSNV - 3/4 3
12-25380071-T-A c.290+97A>T - IntronicSNV - 3/4 5
12-25380071-T-G c.290+97A>C - IntronicSNV - 3/4 10
12-25380094-A-C c.290+74T>G - IntronicSNV - 3/4 2
12-25380094-A-T c.290+74T>A - IntronicSNV - 3/4 1
12-25380097-A-G c.290+71T>C - IntronicSNV - 3/4 1
12-25380164-C-A c.290+4G>T - IntronicSNV - 3/4 1
12-25380165-C-A c.290+3G>T - IntronicSNV - 3/4 1
12-25380165-C-T c.290+3G>A - IntronicSNV - 3/4 1
12-25380166-A-G c.290+2T>C - IntronicSNV - 3/4 1
12-25380167-C-A c.290+1G>T - IntronicSNV - 3/4 1
12-25380168-C-A c.290G>T p.R97I Missense 3/5 - 8
12-25380168-C-T c.290G>A p.R97K Missense 3/5 - 6
12-25380168-CT-AG c.289_290inv p.R97L Missense 3/5 - 1
12-25380168-CT-TG c.289_290delinsCA p.R97Q Missense 3/5 - 1
12-25380169-T-A c.289A>T p.R97* Nonsense 3/5 - 2
12-25380169-T-C c.289A>G p.R97G Missense 3/5 - 1
12-25380169-T-TA c.288dup p.R97* Nonsense 3/5 - 1
12-25380170-A-C c.288T>G p.Y96* Nonsense 3/5 - 2
12-25380170-A-G c.288T>C p.Y96= Synonymous 3/5 - 1
12-25380170-A-T c.288T>A p.Y96* Nonsense 3/5 - 2
12-25380171-TA-GC c.286_287delinsGC p.Y96A Missense 3/5 - 1
12-25380171-T-C c.287A>G p.Y96C Missense 3/5 - 42
12-25380171-T-G c.287A>C p.Y96S Missense 3/5 - 12
12-25380172-A-C c.286T>G p.Y96D Missense 3/5 - 46
12-25380172-A-G c.286T>C p.Y96H Missense 3/5 - 4
12-25380172-A-T c.286T>A p.Y96N Missense 3/5 - 2
12-25380173-A-AC c.284_285insG p.H95Qfs*3 Frameshift 3/5 - 1
12-25380173-A-C c.285T>G p.H95Q Missense 3/5 - 16
12-25380173-A-T c.285T>A p.H95Q Missense 3/5 - 16
12-25380173-ATG-CTT c.283_285delinsAAG p.H95K Missense 3/5 - 1
12-25380173-ATG-TTA c.283_285delinsTAA p.H95* Nonsense 3/5 - 1
12-25380174-T-A c.284A>T p.H95L Missense 3/5 - 6
12-25380174-T-C c.284A>G p.H95R Missense 3/5 - 24
12-25380174-T-G c.284A>C p.H95P Missense 3/5 - 1
12-25380174-TG-AC c.283_284delinsGT p.H95V Missense 3/5 - 1
12-25380174-TG-GC c.283_284delinsGC p.H95A Missense 3/5 - 1
12-25380175-G-A c.283C>T p.H95Y Missense 3/5 - 2
12-25380175-G-C c.283C>G p.H95D Missense 3/5 - 36
12-25380175-G-T c.283C>A p.H95N Missense 3/5 - 6
12-25380174-TG-T c.283del p.H95Ifs*19 Frameshift 3/5 - 1
12-25380176-G-C c.282C>G p.H94Q Missense 3/5 - 1
12-25380176-G-T c.282C>A p.H94Q Missense 3/5 - 1
12-25380177-T-C c.281A>G p.H94R Missense 3/5 - 1
12-25380177-TG-GC c.280_281delinsGC p.H94A Missense 3/5 - 1
12-25380178-G-A c.280C>T p.H94Y Missense 3/5 - 1
12-25380178-G-T c.280C>A p.H94N Missense 3/5 - 2
12-25380179-A-C c.279T>G p.I93M Missense 3/5 - 2
12-25380179-A-G c.279T>C p.I93= Synonymous 3/5 - 1
12-25380179-A-T c.279T>A p.I93= Synonymous 3/5 - 1
12-25380180-A-G c.278T>C p.I93T Missense 3/5 - 1
12-25380180-A-T c.278T>A p.I93N Missense 3/5 - 1
12-25380181-T-A c.277A>T p.I93F Missense 3/5 - 1
12-25380181-T-C c.277A>G p.I93V Missense 3/5 - 1
12-25380182-A-G c.276T>C p.D92= Synonymous 3/5 - 1
12-25380183-T-A c.275A>T p.D92V Missense 3/5 - 3
12-25380183-T-C c.275A>G p.D92G Missense 3/5 - 2
12-25380183-TC-AA c.274_275delinsTT p.D92F Missense 3/5 - 1
12-25380183-TC-CG c.274_275delinsCG p.D92R Missense 3/5 - 2
12-25380184-C-A c.274G>T p.D92Y Missense 3/5 - 12
12-25380184-C-G c.274G>C p.D92H Missense 3/5 - 3
12-25380184-C-T c.274G>A p.D92N Missense 3/5 - 5
12-25380185-T-A c.273A>T p.E91D Missense 3/5 - 1
12-25380185-T-G c.273A>C p.E91D Missense 3/5 - 1
12-25380186-T-C c.272A>G p.E91G Missense 3/5 - 3
12-25380186-T-G c.272A>C p.E91A Missense 3/5 - 1
12-25380187-C-A c.271G>T p.E91* Nonsense 3/5 - 1
12-25380187-C-T c.271G>A p.E91K Missense 3/5 - 2
12-25380189-AA-TC c.268_269delinsGA p.F90D Missense 3/5 - 1
12-25380189-A-T c.269T>A p.F90Y Missense 3/5 - 1
12-25380187-CA-C c.270del p.F90Lfs*24 Frameshift 3/5 - 1
12-25380188-A-C c.270T>G p.F90L Missense 3/5 - 2
12-25380188-A-T c.270T>A p.F90L Missense 3/5 - 2
12-25380190-A-G c.268T>C p.F90L Missense 3/5 - 2
12-25380190-A-T c.268T>A p.F90I Missense 3/5 - 1
12-25380192-G-A c.266C>T p.S89L Missense 3/5 - 3
12-25380192-G-GA c.265dup p.S89Ffs*3 Frameshift 3/5 - 1
12-25380193-A-C c.265T>G p.S89A Missense 3/5 - 6
12-25380193-A-G c.265T>C p.S89P Missense 3/5 - 1
12-25380194-T-C c.264A>G p.K88= Synonymous 3/5 - 2
12-25380194-T-G c.264A>C p.K88N Missense 3/5 - 2
12-25380194-TTT-GTC c.262_264delinsGAC p.K88D Missense 3/5 - 1
12-25380195-T-A c.263A>T p.K88I Missense 3/5 - 1
12-25380195-T-C c.263A>G p.K88R Missense 3/5 - 3
12-25380193-AT-A c.264del p.K88Nfs*26 Frameshift 3/5 - 2
12-25380196-T-A c.262A>T p.K88* Nonsense 3/5 - 6
12-25380196-T-C c.262A>G p.K88E Missense 3/5 - 3
12-25380197-A-G c.261T>C p.T87= Synonymous 3/5 - 1
12-25380197-AGT-TTG c.259_261delinsCAA p.T87Q Missense 3/5 - 2
12-25380198-G-A c.260C>T p.T87I Missense 3/5 - 1
12-25380198-G-GT c.259dup p.T87Nfs*2 Frameshift 3/5 - 1
12-25380199-T-C c.259A>G p.T87A Missense 3/5 - 2
12-25380200-A-C c.258T>G p.N86K Missense 3/5 - 1
12-25380200-A-T c.258T>A p.N86K Missense 3/5 - 1
12-25380200-ATT-CTC c.256_258delinsGAG p.N86E Missense 3/5 - 1
12-25380201-T-A c.257A>T p.N86I Missense 3/5 - 1
12-25380201-T-C c.257A>G p.N86S Missense 3/5 - 3
12-25380201-T-G c.257A>C p.N86T Missense 3/5 - 1
12-25380201-TT-GC c.256_257delinsGC p.N86A Missense 3/5 - 1
12-25380202-T-C c.256A>G p.N86D Missense 3/5 - 1
12-25380202-T-G c.256A>C p.N86H Missense 3/5 - 2
12-25380203-A-T c.255T>A p.N85K Missense 3/5 - 1
12-25380204-T-C c.254A>G p.N85S Missense 3/5 - 4
12-25380204-TT-GC c.253_254delinsGC p.N85A Missense 3/5 - 1
12-25380205-T-A c.253A>T p.N85Y Missense 3/5 - 1
12-25380205-T-C c.253A>G p.N85D Missense 3/5 - 3
12-25380205-T-G c.253A>C p.N85H Missense 3/5 - 1
12-25380206-T-A c.252A>T p.I84= Synonymous 3/5 - 1
12-25380206-T-C c.252A>G p.I84M Missense 3/5 - 2
12-25380206-T-G c.252A>C p.I84= Synonymous 3/5 - 1
12-25380207-A-G c.251T>C p.I84T Missense 3/5 - 1
12-25380207-A-T c.251T>A p.I84K Missense 3/5 - 3
12-25380208-T-C c.250A>G p.I84V Missense 3/5 - 3
12-25380209-G-T c.249C>A p.A83= Synonymous 3/5 - 1
12-25380209-TGGC-T c.247_249del p.A83del InFrameDeletion 3/5 - 1
12-25380208-TG-T c.249del p.I84* Frameshift 3/5 - 1
12-25380210-G-A c.248C>T p.A83V Missense 3/5 - 1
12-25380210-G-C c.248C>G p.A83G Missense 3/5 - 1
12-25380210-G-GA c.247_248insT p.A83Vfs*4 Frameshift 3/5 - 1
12-25380210-G-GT c.247_248insA p.A83Dfs*4 Frameshift 3/5 - 1
12-25380210-G-T c.248C>A p.A83D Missense 3/5 - 1
12-25380211-C-A c.247G>T p.A83S Missense 3/5 - 5
12-25380211-C-G c.247G>C p.A83P Missense 3/5 - 1
12-25380211-C-T c.247G>A p.A83T Missense 3/5 - 1
12-25380212-A-G c.246T>C p.F82= Synonymous 3/5 - 1
12-25380211-CA-C c.246del p.F82Lfs*3 Frameshift 3/5 - 1
12-25380212-A-C c.246T>G p.F82L Missense 3/5 - 5
12-25380212-A-T c.246T>A p.F82L Missense 3/5 - 2
12-25380213-A-AAC c.244_245insGT p.F82Cfs*4 Frameshift 3/5 - 1
12-25380214-A-C c.244T>G p.F82V Missense 3/5 - 1
12-25380214-A-G c.244T>C p.F82L Missense 3/5 - 2
12-25380215-T-A c.243A>T p.V81= Synonymous 3/5 - 1
12-25380215-T-C c.243A>G p.V81= Synonymous 3/5 - 1
12-25380215-T-G c.243A>C p.V81= Synonymous 3/5 - 1
12-25380216-A-C c.242T>G p.V81G Missense 3/5 - 1
12-25380216-A-AC c.241dup p.V81Gfs*6 Frameshift 3/5 - 1
12-25380217-C-A c.241G>T p.V81L Missense 3/5 - 2
12-25380217-C-G c.241G>C p.V81L Missense 3/5 - 1
12-25380217-C-T c.241G>A p.V81I Missense 3/5 - 2
12-25380217-CACA-C c.238_240del p.C80del InFrameDeletion 3/5 - 1
12-25380219-C-A c.239G>T p.C80F Missense 3/5 - 5
12-25380219-CA-AG c.238_239delinsCT p.C80L Missense 3/5 - 14
12-25380219-CA-GC c.238_239delinsGC p.C80A Missense 3/5 - 2
12-25380219-CA-TC c.238_239delinsGA p.C80D Missense 3/5 - 1
12-25380219-C-T c.239G>A p.C80Y Missense 3/5 - 5
12-25380220-A-G c.238T>C p.C80R Missense 3/5 - 2
12-25380220-A-T c.238T>A p.C80S Missense 3/5 - 3
12-25380221-AA-TT c.236_237inv p.L79Q Missense 3/5 - 2
12-25380219-CA-C c.238del p.C80Vfs*5 Frameshift 3/5 - 1
12-25380219-C-CA c.238dup p.C80Lfs*7 Frameshift 3/5 - 1
12-25380222-A-C c.236T>G p.L79R Missense 3/5 - 1
12-25380222-A-G c.236T>C p.L79P Missense 3/5 - 3
12-25380223-G-A c.235C>T p.L79F Missense 3/5 - 1
12-25380223-G-AGA c.235delinsTCT p.L79Sfs*7 Frameshift 3/5 - 1
12-25380223-G-C c.235C>G p.L79V Missense 3/5 - 1
12-25380223-G-T c.235C>A p.L79I Missense 3/5 - 3
12-25380224-A-G c.234T>C p.F78= Synonymous 3/5 - 2
12-25380225-AA-GC c.232_233delinsGC p.F78A Missense 3/5 - 1
12-25380225-AA-TC c.232_233delinsGA p.F78D Missense 3/5 - 2
12-25380225-A-C c.233T>G p.F78C Missense 3/5 - 1
12-25380225-A-G c.233T>C p.F78S Missense 3/5 - 1
12-25380223-G-GA c.234dup p.L79Sfs*8 Frameshift 3/5 - 1
12-25380224-A-C c.234T>G p.F78L Missense 3/5 - 2
12-25380224-A-T c.234T>A p.F78L Missense 3/5 - 2
12-25380226-A-G c.232T>C p.F78L Missense 3/5 - 3
12-25380227-G-A c.231C>T p.G77= Synonymous 3/5 - 1
12-25380227-G-C c.231C>G p.G77= Synonymous 3/5 - 1
12-25380227-G-T c.231C>A p.G77= Synonymous 3/5 - 2
12-25380228-C-A c.230G>T p.G77V Missense 3/5 - 2
12-25380228-C-G c.230G>C p.G77A Missense 3/5 - 5
12-25380228-C-T c.230G>A p.G77D Missense 3/5 - 1
12-25380229-C-A c.229G>T p.G77C Missense 3/5 - 3
12-25380227-GC-G c.230del p.G77Afs*8 Frameshift 3/5 - 1
12-25380227-G-GC c.230dup p.F78Lfs*9 Frameshift 3/5 - 2
12-25380227-G-GCCCC c.230_231insGGGG p.F78Gfs*10 Frameshift 3/5 - 1
12-25380230-C-A c.228G>T p.E76D Missense 3/5 - 3
12-25380230-C-G c.228G>C p.E76D Missense 3/5 - 3
12-25380230-C-T c.228G>A p.E76= Synonymous 3/5 - 3
12-25380231-T-A c.227A>T p.E76V Missense 3/5 - 3
12-25380231-T-C c.227A>G p.E76G Missense 3/5 - 9
12-25380231-T-G c.227A>C p.E76A Missense 3/5 - 4
12-25380232-C-G c.226G>C p.E76Q Missense 3/5 - 1
12-25380232-C-T c.226G>A p.E76K Missense 3/5 - 9
12-25380233-C-A c.225G>T p.G75= Synonymous 3/5 - 1
12-25380233-C-CAGGAG c.224_225insCTCCT p.E76Sfs*11 Frameshift 3/5 - 1
12-25380233-CC-GT c.224_225delinsAC p.G75D Missense 3/5 - 1
12-25380234-C-A c.224G>T p.G75V Missense 3/5 - 2
12-25380234-CC-AG c.223_224delinsCT p.G75L Missense 3/5 - 1
12-25380234-C-G c.224G>C p.G75A Missense 3/5 - 2
12-25380234-C-T c.224G>A p.G75E Missense 3/5 - 2
12-25380231-TC-T c.226del p.E76Rfs*9 Frameshift 3/5 - 1
12-25380231-T-TC c.226dup p.E76Gfs*11 Frameshift 3/5 - 1
12-25380235-C-A c.223G>T p.G75W Missense 3/5 - 1
12-25380235-C-T c.223G>A p.G75R Missense 3/5 - 1
12-25380236-A-C c.222T>G p.T74= Synonymous 3/5 - 5
12-25380236-A-G c.222T>C p.T74= Synonymous 3/5 - 4
12-25380236-AGT-CTC c.220_222delinsGAG p.T74E Missense 3/5 - 1
12-25380236-A-T c.222T>A p.T74= Synonymous 3/5 - 4
12-25380237-AG-A c.221del p.T74Mfs*11 Frameshift 3/5 - 1
12-25380237-G-A c.221C>T p.T74I Missense 3/5 - 2
12-25380237-G-C c.221C>G p.T74S Missense 3/5 - 1
12-25380237-GT-TC c.220_221delinsGA p.T74D Missense 3/5 - 1
12-25380238-T-C c.220A>G p.T74A Missense 3/5 - 3
12-25380238-T-G c.220A>C p.T74P Missense 3/5 - 19
12-25380239-C-A c.219G>T p.R73S Missense 3/5 - 2
12-25380239-CCT-ACA c.217_219delinsTGT p.R73C Missense 3/5 - 1
12-25380239-CCT-ATG c.217_219delinsCAT p.R73H Missense 3/5 - 3
12-25380239-C-T c.219G>A p.R73= Synonymous 3/5 - 15
12-25380241-T-G c.217A>C p.R73= Synonymous 3/5 - 4
12-25380238-T-TC c.219dup p.T74Dfs*13 Frameshift 3/5 - 1
12-25380240-C-A c.218G>T p.R73M Missense 3/5 - 5
12-25380240-C-T c.218G>A p.R73K Missense 3/5 - 3
12-25380240-CT-AG c.217_218inv p.R73L Missense 3/5 - 1
12-25380240-CT-GC c.217_218delinsGC p.R73A Missense 3/5 - 2
12-25380240-CT-TC c.217_218delinsGA p.R73E Missense 3/5 - 2
12-25380241-T-A c.217A>T p.R73W Missense 3/5 - 1
12-25380241-T-C c.217A>G p.R73G Missense 3/5 - 3
12-25380242-C-A c.216G>T p.M72I Missense 3/5 - 7
12-25380242-CAT-ACA c.214_216delinsTGT p.M72C Missense 3/5 - 7
12-25380242-C-G c.216G>C p.M72I Missense 3/5 - 7
12-25380242-C-T c.216G>A p.M72I Missense 3/5 - 12
12-25380243-A-G c.215T>C p.M72T Missense 3/5 - 3
12-25380244-T-A c.214A>T p.M72L Missense 3/5 - 7
12-25380244-T-C c.214A>G p.M72V Missense 3/5 - 6
12-25380244-T-G c.214A>C p.M72L Missense 3/5 - 4
12-25380238-TCCTCATGTACTGGTC-T c.205_219del p.D69_R73del InFrameDeletion 3/5 - 1
12-25380245-G-A c.213C>T p.Y71= Synonymous 3/5 - 2
12-25380245-TG-T c.213del p.Y71* Frameshift 3/5 - 1
12-25380246-GT-G c.212del p.Y71Sfs*2 Frameshift 3/5 - 1
12-25380246-TA-GC c.211_212delinsGC p.Y71A Missense 3/5 - 1
12-25380246-T-C c.212A>G p.Y71C Missense 3/5 - 7
12-25380247-A-C c.211T>G p.Y71D Missense 3/5 - 10
12-25380247-A-G c.211T>C p.Y71H Missense 3/5 - 19
12-25380247-A-T c.211T>A p.Y71N Missense 3/5 - 2
12-25380248-AC-A c.210del p.Q70Hfs*3 Frameshift 3/5 - 1
12-25380248-C-A c.210G>T p.Q70H Missense 3/5 - 2
12-25380248-C-T c.210G>A p.Q70= Synonymous 3/5 - 3
12-25380249-T-A c.209A>T p.Q70L Missense 3/5 - 2
12-25380249-T-C c.209A>G p.Q70R Missense 3/5 - 2
12-25380249-T-G c.209A>C p.Q70P Missense 3/5 - 3
12-25380250-G-A c.208C>T p.Q70* Nonsense 3/5 - 3
12-25380250-G-C c.208C>G p.Q70E Missense 3/5 - 1
12-25380249-TG-T c.208del p.Q70Sfs*3 Frameshift 3/5 - 1
12-25380251-G-A c.207C>T p.D69= Synonymous 3/5 - 2
12-25380251-G-T c.207C>A p.D69E Missense 3/5 - 1
12-25380252-T-C c.206A>G p.D69G Missense 3/5 - 4
12-25380252-TC-AA c.205_206delinsTT p.D69F Missense 3/5 - 1
12-25380252-TC-CA c.205_206delinsTG p.D69C Missense 3/5 - 2
12-25380252-TC-GG c.205_206delinsCC p.D69P Missense 3/5 - 2
12-25380253-C-A c.205G>T p.D69Y Missense 3/5 - 4
12-25380253-C-G c.205G>C p.D69H Missense 3/5 - 1
12-25380253-C-T c.205G>A p.D69N Missense 3/5 - 6
12-25380254-C-A c.204G>T p.R68S Missense 3/5 - 59
12-25380254-CCT-AAGTACTGTACAGTC c.202_204delinsGACTGTACAGTACTT p.R68delinsDCTVL MultiAAMissense 3/5 - 1
12-25380254-CCT-ACA c.202_204delinsTGT p.R68C Missense 3/5 - 1
12-25380254-CCTCATTG-AAGTACTGTACAGT c.197_204delinsACTGTACAGTACTT p.A66_R68delinsDCTVL MultiAAMissense 3/5 - 1
12-25380254-CCT-GTC c.202_204delinsGAC p.R68D Missense 3/5 - 1
12-25380254-C-G c.204G>C p.R68S Missense 3/5 - 57
12-25380254-C-T c.204G>A p.R68= Synonymous 3/5 - 2
12-25380256-T-G c.202A>C p.R68= Synonymous 3/5 - 2
12-25380252-TC-T c.205del p.D69Tfs*4 Frameshift 3/5 - 2
12-25380252-T-TC c.205dup p.D69Gfs*18 Frameshift 3/5 - 1
12-25380253-CCCT-C c.202_204del p.R68del InFrameDeletion 3/5 - 1
12-25380255-C-A c.203G>T p.R68M Missense 3/5 - 29
12-25380255-C-T c.203G>A p.R68K Missense 3/5 - 1
12-25380255-CT-AG c.202_203inv p.R68L Missense 3/5 - 2
12-25380255-CT-GC c.202_203delinsGC p.R68A Missense 3/5 - 1
12-25380255-CT-TA c.202_203delinsTA p.R68* Nonsense 3/5 - 1
12-25380255-CT-TC c.202_203delinsGA p.R68E Missense 3/5 - 1
12-25380254-CCTCATTG-C c.197_203del p.A66Gfs*5 Frameshift 3/5 - 1
12-25380256-T-A c.202A>T p.R68W Missense 3/5 - 4
12-25380256-T-C c.202A>G p.R68G Missense 3/5 - 6
12-25380257-C-A c.201G>T p.M67I Missense 3/5 - 3
12-25380257-CAT-ACA c.199_201delinsTGT p.M67C Missense 3/5 - 1
12-25380257-C-G c.201G>C p.M67I Missense 3/5 - 2
12-25380257-C-T c.201G>A p.M67I Missense 3/5 - 7
12-25380258-A-G c.200T>C p.M67T Missense 3/5 - 3
12-25380258-A-T c.200T>A p.M67K Missense 3/5 - 1
12-25380259-T-A c.199A>T p.M67L Missense 3/5 - 1
12-25380259-T-C c.199A>G p.M67V Missense 3/5 - 3
12-25380259-T-G c.199A>C p.M67L Missense 3/5 - 3
12-25380260-T-A c.198A>T p.A66= Synonymous 3/5 - 4
12-25380260-T-C c.198A>G p.A66= Synonymous 3/5 - 6
12-25380260-T-G c.198A>C p.A66= Synonymous 3/5 - 4
12-25380260-TGC-AAA c.196_198delinsTTT p.A66F Missense 3/5 - 3
12-25380260-TGC-ACA c.196_198delinsTGT p.A66C Missense 3/5 - 4
12-25380260-TGC-ATA c.196_198delinsTAT p.A66Y Missense 3/5 - 1
12-25380260-TGC-ATG c.196_198delinsCAT p.A66H Missense 3/5 - 2
12-25380260-TGC-GTT c.196_198delinsAAC p.A66N Missense 3/5 - 2
12-25380260-TG-GT c.197_198delinsAC p.A66D Missense 3/5 - 1
12-25380260-TTGC-T c.196_198del p.A66del InFrameDeletion 3/5 - 1
12-25380261-G-A c.197C>T p.A66V Missense 3/5 - 8
12-25380261-G-C c.197C>G p.A66G Missense 3/5 - 3
12-25380261-GC-AG c.196_197delinsCT p.A66L Missense 3/5 - 1
12-25380261-GC-AT c.196_197delinsAT p.A66I Missense 3/5 - 2
12-25380261-GC-TA c.196_197delinsTA p.A66* Nonsense 3/5 - 2
12-25380261-GC-TT c.196_197delinsAA p.A66K Missense 3/5 - 1
12-25380261-G-T c.197C>A p.A66E Missense 3/5 - 3
12-25380261-G-GCGCTGT c.196_197insACAGCG p.S65_A66insDS InFrameInsertion 3/5 - 1
12-25380262-C-A c.196G>T p.A66S Missense 3/5 - 4
12-25380262-C-G c.196G>C p.A66P Missense 3/5 - 4
12-25380262-C-T c.196G>A p.A66T Missense 3/5 - 3
12-25380263-ACT-CCA c.193_195delinsTGG p.S65W Missense 3/5 - 2
12-25380263-A-G c.195T>C p.S65= Synonymous 3/5 - 2
12-25380263-A-T c.195T>A p.S65R Missense 3/5 - 1
12-25380263-CACT-C c.193_195del p.S65del InFrameDeletion 3/5 - 1
12-25380264-C-A c.194G>T p.S65I Missense 3/5 - 12
12-25380264-C-G c.194G>C p.S65T Missense 3/5 - 2
12-25380264-C-T c.194G>A p.S65N Missense 3/5 - 11
12-25380264-CT-GC c.193_194delinsGC p.S65A Missense 3/5 - 1
12-25380265-T-A c.193A>T p.S65C Missense 3/5 - 1
12-25380265-T-C c.193A>G p.S65G Missense 3/5 - 3
12-25380265-T-TATACTCCTCTTGACCTGC c.192_193insGCAGGTCAAGAGGAGTAT p.A59_Y64dup InFrameInsertion 3/5 - 1
12-25380266-G-A c.192C>T p.Y64= Synonymous 3/5 - 3
12-25380266-G-C c.192C>G p.Y64* Nonsense 3/5 - 1
12-25380266-G-T c.192C>A p.Y64* Nonsense 3/5 - 2
12-25380267-T-A c.191A>T p.Y64F Missense 3/5 - 2
12-25380267-TA-CC c.190_191delinsGG p.Y64G Missense 3/5 - 3
12-25380267-TA-GC c.190_191delinsGC p.Y64A Missense 3/5 - 18
12-25380267-T-C c.191A>G p.Y64C Missense 3/5 - 5
12-25380260-T-TGCACTGTAGAGGCATGGG c.197_198insCCCATGCCTCTACAGTGC p.A66_M67insPCLYSA InFrameInsertion 3/5 - 1
12-25380268-A-C c.190T>G p.Y64D Missense 3/5 - 15
12-25380268-A-G c.190T>C p.Y64H Missense 3/5 - 8
12-25380268-A-T c.190T>A p.Y64N Missense 3/5 - 14
12-25380269-C-A c.189G>T p.E63D Missense 3/5 - 9
12-25380269-C-G c.189G>C p.E63D Missense 3/5 - 6
12-25380269-C-T c.189G>A p.E63= Synonymous 3/5 - 3
12-25380269-CTC-ACA c.187_189delinsTGT p.E63C Missense 3/5 - 2
12-25380269-CTC-ATG c.187_189delinsCAT p.E63H Missense 3/5 - 1
12-25380269-C-CTGG c.188_189insCCA p.E63delinsDQ MultiAAMissense 3/5 - 1
12-25380270-T-A c.188A>T p.E63V Missense 3/5 - 1
12-25380270-T-C c.188A>G p.E63G Missense 3/5 - 4
12-25380270-TC-GG c.187_188delinsCC p.E63P Missense 3/5 - 1
12-25380270-T-G c.188A>C p.E63A Missense 3/5 - 1
12-25380271-C-G c.187G>C p.E63Q Missense 3/5 - 2
12-25380271-C-T c.187G>A p.E63K Missense 3/5 - 57
12-25380271-TCC-T c.186_187del p.E63Vfs*23 Frameshift 3/5 - 1
12-25380268-ACTC-A c.187_189del p.E63del InFrameDeletion 3/5 - 6
12-25380271-C-CCCTCATTGCACTGTACTT c.186_187insAAGTACAGTGCAATGAGG p.E62_E63insKYSAMR InFrameInsertion 3/5 - 1
12-25380272-C-A c.186G>T p.E62D Missense 3/5 - 5
12-25380272-C-G c.186G>C p.E62D Missense 3/5 - 3
12-25380272-C-T c.186G>A p.E62= Synonymous 3/5 - 6
12-25380272-CTC-ACA c.184_186delinsTGT p.E62C Missense 3/5 - 1
12-25380273-T-C c.185A>G p.E62G Missense 3/5 - 3
12-25380273-TC-CT c.184_185delinsAG p.E62R Missense 3/5 - 1
12-25380273-T-G c.185A>C p.E62A Missense 3/5 - 2
12-25380273-T-TG c.184_185insC p.E62Afs*25 Frameshift 3/5 - 1
12-25380274-C-A c.184G>T p.E62* Nonsense 3/5 - 3
12-25380274-C-G c.184G>C p.E62Q Missense 3/5 - 1
12-25380274-C-T c.184G>A p.E62K Missense 3/5 - 24
12-25380275-T-A c.183A>T p.Q61H Missense 3/5 - 912
12-25380275-T-C c.183A>G p.Q61= Synonymous 3/5 - 3
12-25380275-T-G c.183A>C p.Q61H Missense 3/5 - 1005
12-25380275-TTG-ACA c.181_183delinsTGT p.Q61C Missense 3/5 - 2
12-25380275-TTG-CAT c.181_183delinsATG p.Q61M Missense 3/5 - 1
12-25380275-TTG-GTC c.181_183delinsGAC p.Q61D Missense 3/5 - 2
12-25380275-TTG-GTT c.181_183delinsAAC p.Q61N Missense 3/5 - 2
12-25380274-C-CT c.183dup p.E62Rfs*25 Frameshift 3/5 - 1
12-25380276-T-A c.182A>T p.Q61L Missense 3/5 - 501
12-25380276-T-C c.182A>G p.Q61R Missense 3/5 - 457
12-25380276-T-G c.182A>C p.Q61P Missense 3/5 - 104
12-25380276-TG-AC c.181_182delinsGT p.Q61V Missense 3/5 - 1
12-25380276-TG-CC c.181_182delinsGG p.Q61G Missense 3/5 - 1
12-25380276-TG-GA c.181_182delinsTC p.Q61S Missense 3/5 - 1
12-25380276-TG-GC c.181_182delinsGC p.Q61A Missense 3/5 - 8
12-25380276-T-TGTA c.181_182insTAC p.G60_Q61insL InFrameInsertion 3/5 - 1
12-25380277-G-A c.181C>T p.Q61* Nonsense 3/5 - 41
12-25380277-G-C c.181C>G p.Q61E Missense 3/5 - 86
12-25380277-G-T c.181C>A p.Q61K Missense 3/5 - 315
12-25380278-A-C c.180T>G p.G60= Synonymous 3/5 - 16
12-25380278-AC-CT c.179_180delinsAG p.G60E Missense 3/5 - 3
12-25380278-A-G c.180T>C p.G60= Synonymous 3/5 - 18
12-25380278-A-T c.180T>A p.G60= Synonymous 3/5 - 29
12-25380279-C-A c.179G>T p.G60V Missense 3/5 - 29
12-25380279-CCTG-GAGT c.176_179delinsACTC p.A59_G60delinsDS MultiAAMissense 3/5 - 1
12-25380279-C-G c.179G>C p.G60A Missense 3/5 - 13
12-25380279-C-T c.179G>A p.G60D Missense 3/5 - 54
12-25380278-AC-A c.179del p.G60Vfs*8 Frameshift 3/5 - 1
12-25380280-C-A c.178G>T p.G60C Missense 3/5 - 3
12-25380280-C-G c.178G>C p.G60R Missense 3/5 - 40
12-25380280-C-T c.178G>A p.G60S Missense 3/5 - 21
12-25380280-C-CT c.177dup p.G60Rfs*27 Frameshift 3/5 - 1
12-25380281-T-A c.177A>T p.A59= Synonymous 3/5 - 3
12-25380281-T-C c.177A>G p.A59= Synonymous 3/5 - 4
12-25380281-T-G c.177A>C p.A59= Synonymous 3/5 - 3
12-25380281-TGC-AAA c.175_177delinsTTT p.A59F Missense 3/5 - 2
12-25380281-TGC-ACA c.175_177delinsTGT p.A59C Missense 3/5 - 2
12-25380281-TGCTGT-CAG c.172_177delinsCTG p.T58_A59delinsL MultiAAMissense 3/5 - 1
12-25380281-TG-GT c.176_177delinsAC p.A59D Missense 3/5 - 6
12-25380282-G-A c.176C>T p.A59V Missense 3/5 - 20
12-25380282-G-C c.176C>G p.A59G Missense 3/5 - 108
12-25380282-GC-AG c.175_176delinsCT p.A59L Missense 3/5 - 1
12-25380282-GC-AT c.175_176delinsAT p.A59I Missense 3/5 - 1
12-25380282-GC-CT c.175_176delinsAG p.A59R Missense 3/5 - 1
12-25380282-GC-TA c.175_176delinsTA p.A59* Nonsense 3/5 - 4
12-25380282-GC-TG c.175_176delinsCA p.A59Q Missense 3/5 - 1
12-25380282-GC-TT c.175_176delinsAA p.A59K Missense 3/5 - 8
12-25380282-G-T c.176C>A p.A59E Missense 3/5 - 78
12-25380282-TG-T c.176del p.A59Efs*9 Frameshift 3/5 - 1
12-25380279-CCTG-C c.176_178del p.A59del InFrameDeletion 3/5 - 12
12-25380283-C-A c.175G>T p.A59S Missense 3/5 - 32
12-25380283-C-G c.175G>C p.A59P Missense 3/5 - 1
12-25380283-C-T c.175G>A p.A59T Missense 3/5 - 189
12-25380284-T-A c.174A>T p.T58= Synonymous 3/5 - 2
12-25380284-T-C c.174A>G p.T58= Synonymous 3/5 - 3
12-25380284-T-G c.174A>C p.T58= Synonymous 3/5 - 2
12-25380284-TG-CA c.173_174inv p.T58M Missense 3/5 - 1
12-25380284-TGT-ACA c.172_174inv p.T58C Missense 3/5 - 1
12-25380284-T-TG c.173dup p.A59Sfs*28 Frameshift 3/5 - 1
12-25380285-G-A c.173C>T p.T58I Missense 3/5 - 108
12-25380285-G-C c.173C>G p.T58R Missense 3/5 - 1
12-25380285-G-T c.173C>A p.T58K Missense 3/5 - 1
12-25380285-GT-TA c.172_173delinsTA p.T58* Nonsense 3/5 - 1
12-25380286-T-A c.172A>T p.T58S Missense 3/5 - 1
12-25380286-T-C c.172A>G p.T58A Missense 3/5 - 34
12-25380286-T-G c.172A>C p.T58P Missense 3/5 - 1
12-25380287-G-A c.171C>T p.D57= Synonymous 3/5 - 2
12-25380287-G-T c.171C>A p.D57E Missense 3/5 - 1
12-25380288-T-A c.170A>T p.D57V Missense 3/5 - 2
12-25380288-T-C c.170A>G p.D57G Missense 3/5 - 2
12-25380288-T-G c.170A>C p.D57A Missense 3/5 - 2
12-25380289-C-A c.169G>T p.D57Y Missense 3/5 - 2
12-25380289-C-G c.169G>C p.D57H Missense 3/5 - 1
12-25380289-C-T c.169G>A p.D57N Missense 3/5 - 20
12-25380290-CG-C c.168del p.D57Tfs*11 Frameshift 3/5 - 1
12-25380290-G-A c.168C>T p.L56= Synonymous 3/5 - 3
12-25380290-G-C c.168C>G p.L56= Synonymous 3/5 - 2
12-25380290-G-T c.168C>A p.L56= Synonymous 3/5 - 3
12-25380291-A-G c.167T>C p.L56P Missense 3/5 - 2
12-25380292-G-A c.166C>T p.L56F Missense 3/5 - 2
12-25380292-G-C c.166C>G p.L56V Missense 3/5 - 1
12-25380292-G-T c.166C>A p.L56I Missense 3/5 - 3
12-25380293-A-C c.165T>G p.I55M Missense 3/5 - 1
12-25380293-A-G c.165T>C p.I55= Synonymous 3/5 - 1
12-25380293-A-T c.165T>A p.I55= Synonymous 3/5 - 1
12-25380294-A-G c.164T>C p.I55T Missense 3/5 - 2
12-25380295-T-A c.163A>T p.I55F Missense 3/5 - 1
12-25380295-T-C c.163A>G p.I55V Missense 3/5 - 3
12-25380296-A-G c.162T>C p.D54= Synonymous 3/5 - 1
12-25380296-ATC-CTT c.160_162delinsAAG p.D54K Missense 3/5 - 1
12-25380296-TATC-T c.160_162del p.D54del InFrameDeletion 3/5 - 1
12-25380297-T-C c.161A>G p.D54G Missense 3/5 - 2
12-25380297-TC-CG c.160_161delinsCG p.D54R Missense 3/5 - 1
12-25380297-T-TA c.160_161insT p.D54Vfs*33 Frameshift 3/5 - 1
12-25380298-C-A c.160G>T p.D54Y Missense 3/5 - 7
12-25380298-C-T c.160G>A p.D54N Missense 3/5 - 6
12-25380297-TC-T c.160del p.D54Ifs*14 Frameshift 3/5 - 1
12-25380297-T-TC c.160dup p.D54Gfs*33 Frameshift 3/5 - 1
12-25380299-C-A c.159G>T p.L53F Missense 3/5 - 3
12-25380299-C-G c.159G>C p.L53F Missense 3/5 - 1
12-25380300-AA-CT c.157_158delinsAG p.L53R Missense 3/5 - 1
12-25380300-AA-TG c.157_158delinsCA p.L53Q Missense 3/5 - 1
12-25380300-A-C c.158T>G p.L53W Missense 3/5 - 1
12-25380300-A-G c.158T>C p.L53S Missense 3/5 - 1
12-25380300-A-T c.158T>A p.L53* Nonsense 3/5 - 1
12-25380299-C-T c.159G>A p.L53= Synonymous 3/5 - 2
12-25380301-A-C c.157T>G p.L53V Missense 3/5 - 1
12-25380301-A-G c.157T>C p.L53= Synonymous 3/5 - 4
12-25380302-G-A c.156C>T p.L52= Synonymous 3/5 - 4
12-25380302-GAG-TTA c.154_156delinsTAA p.L52* Nonsense 3/5 - 1
12-25380302-GA-TT c.155_156delinsAA p.L52Q Missense 3/5 - 1
12-25380302-G-C c.156C>G p.L52= Synonymous 3/5 - 3
12-25380302-G-T c.156C>A p.L52= Synonymous 3/5 - 3
12-25380303-A-G c.155T>C p.L52P Missense 3/5 - 2
12-25380303-AG-GC c.154_155delinsGC p.L52A Missense 3/5 - 1
12-25380304-G-A c.154C>T p.L52F Missense 3/5 - 5
12-25380305-A-C c.153T>G p.C51W Missense 3/5 - 1
12-25380305-A-G c.153T>C p.C51= Synonymous 3/5 - 3
12-25380306-C-A c.152G>T p.C51F Missense 3/5 - 3
12-25380306-CA-GT c.151_152delinsAC p.C51T Missense 3/5 - 2
12-25380306-C-T c.152G>A p.C51Y Missense 3/5 - 3
12-25380306-C-G c.152G>C p.C51S Missense 3/5 - 12
12-25380307-A-G c.151T>C p.C51R Missense 3/5 - 6
12-25380307-A-T c.151T>A p.C51S Missense 3/5 - 13
12-25380308-G-A c.150C>T p.T50= Synonymous 3/5 - 2
12-25380308-G-C c.150C>G p.T50= Synonymous 3/5 - 2
12-25380308-GG-CA c.149_150delinsTG p.T50M Missense 3/5 - 1
12-25380308-GG-CC c.149_150inv p.T50R Missense 3/5 - 1
12-25380308-GG-CT c.149_150delinsAG p.T50K Missense 3/5 - 2
12-25380308-G-T c.150C>A p.T50= Synonymous 3/5 - 3
12-25380307-AG-A c.150del p.C51Vfs*17 Frameshift 3/5 - 1
12-25380309-G-A c.149C>T p.T50I Missense 3/5 - 23
12-25380310-T-A c.148A>T p.T50S Missense 3/5 - 1
12-25380310-T-C c.148A>G p.T50A Missense 3/5 - 5
12-25380310-T-G c.148A>C p.T50P Missense 3/5 - 3
12-25380311-T-C c.147A>G p.E49= Synonymous 3/5 - 3
12-25380311-TTC-ACA c.145_147delinsTGT p.E49C Missense 3/5 - 1
12-25380311-TTC-CCA c.145_147delinsTGG p.E49W Missense 3/5 - 1
12-25380309-G-GT c.148dup p.T50Nfs*37 Frameshift 3/5 - 1
12-25380312-T-A c.146A>T p.E49V Missense 3/5 - 1
12-25380312-T-C c.146A>G p.E49G Missense 3/5 - 1
12-25380312-T-G c.146A>C p.E49A Missense 3/5 - 2
12-25380313-C-A c.145G>T p.E49* Nonsense 3/5 - 1
12-25380313-C-G c.145G>C p.E49Q Missense 3/5 - 2
12-25380313-C-T c.145G>A p.E49K Missense 3/5 - 15
12-25380314-CT-C c.144del p.E49Kfs*19 Frameshift 3/5 - 1
12-25380314-T-A c.144A>T p.G48= Synonymous 3/5 - 3
12-25380314-T-C c.144A>G p.G48= Synonymous 3/5 - 3
12-25380314-TCC-GCT c.142_144delinsAGC p.G48S Missense 3/5 - 1
12-25380314-T-G c.144A>C p.G48= Synonymous 3/5 - 2
12-25380315-C-A c.143G>T p.G48V Missense 3/5 - 1
12-25380315-C-G c.143G>C p.G48A Missense 3/5 - 3
12-25380315-C-T c.143G>A p.G48E Missense 3/5 - 4
12-25380314-TC-T c.143del p.G48Efs*20 Frameshift 3/5 - 1
12-25380316-C-A c.142G>T p.G48* Nonsense 3/5 - 1
12-25380316-C-G c.142G>C p.G48R Missense 3/5 - 4
12-25380316-C-T c.142G>A p.G48R Missense 3/5 - 5
12-25380317-A-C c.141T>G p.D47E Missense 3/5 - 2
12-25380317-A-G c.141T>C p.D47= Synonymous 3/5 - 2
12-25380317-A-T c.141T>A p.D47E Missense 3/5 - 2
12-25380317-ATC-CTT c.139_141delinsAAG p.D47K Missense 3/5 - 1
12-25380318-T-A c.140A>T p.D47V Missense 3/5 - 1
12-25380318-T-C c.140A>G p.D47G Missense 3/5 - 3
12-25380318-TC-AA c.139_140delinsTT p.D47F Missense 3/5 - 1
12-25380318-TC-GG c.139_140delinsCC p.D47P Missense 3/5 - 1
12-25380318-T-G c.140A>C p.D47A Missense 3/5 - 5
12-25380319-C-A c.139G>T p.D47Y Missense 3/5 - 5
12-25380319-C-G c.139G>C p.D47H Missense 3/5 - 2
12-25380319-C-T c.139G>A p.D47N Missense 3/5 - 4
12-25380320-A-C c.138T>G p.I46M Missense 3/5 - 2
12-25380320-A-G c.138T>C p.I46= Synonymous 3/5 - 3
12-25380320-A-T c.138T>A p.I46= Synonymous 3/5 - 2
12-25380321-A-G c.137T>C p.I46T Missense 3/5 - 1
12-25380322-T-A c.136A>T p.I46F Missense 3/5 - 1
12-25380322-T-C c.136A>G p.I46V Missense 3/5 - 3
12-25380321-AT-A c.136del p.I46Lfs*22 Frameshift 3/5 - 1
12-25380323-T-A c.135A>T p.V45= Synonymous 3/5 - 3
12-25380323-TAC-CAT c.133_135delinsATG p.V45M Missense 3/5 - 1
12-25380323-T-C c.135A>G p.V45= Synonymous 3/5 - 3
12-25380323-T-G c.135A>C p.V45= Synonymous 3/5 - 3
12-25380324-A-C c.134T>G p.V45G Missense 3/5 - 1
12-25380324-A-G c.134T>C p.V45A Missense 3/5 - 2
12-25380324-A-T c.134T>A p.V45E Missense 3/5 - 5
12-25380325-AC-A c.133del p.V45* Frameshift 3/5 - 1
12-25380325-C-A c.133G>T p.V45L Missense 3/5 - 2
12-25380325-C-G c.133G>C p.V45L Missense 3/5 - 1
12-25380325-C-T c.133G>A p.V45I Missense 3/5 - 7
12-25380326-T-A c.132A>T p.V44= Synonymous 3/5 - 1
12-25380326-TAC-AAA c.130_132delinsTTT p.V44F Missense 3/5 - 1
12-25380326-TAC-CAT c.130_132delinsATG p.V44M Missense 3/5 - 1
12-25380326-T-C c.132A>G p.V44= Synonymous 3/5 - 1
12-25380326-T-G c.132A>C p.V44= Synonymous 3/5 - 1
12-25380327-A-G c.131T>C p.V44A Missense 3/5 - 3
12-25380327-A-T c.131T>A p.V44E Missense 3/5 - 2
12-25380328-C-A c.130G>T p.V44L Missense 3/5 - 2
12-25380328-C-G c.130G>C p.V44L Missense 3/5 - 1
12-25380328-C-T c.130G>A p.V44I Missense 3/5 - 4
12-25380329-T-A c.129A>T p.Q43H Missense 3/5 - 1
12-25380329-T-C c.129A>G p.Q43= Synonymous 3/5 - 1
12-25380329-T-G c.129A>C p.Q43H Missense 3/5 - 1
12-25380329-TTG-ACA c.127_129delinsTGT p.Q43C Missense 3/5 - 1
12-25380330-T-C c.128A>G p.Q43R Missense 3/5 - 2
12-25380330-TG-GC c.127_128delinsGC p.Q43A Missense 3/5 - 2
12-25380331-G-A c.127C>T p.Q43* Nonsense 3/5 - 5
12-25380331-G-C c.127C>G p.Q43E Missense 3/5 - 1
12-25380332-C-A c.126G>T p.K42N Missense 3/5 - 1
12-25380332-C-T c.126G>A p.K42= Synonymous 3/5 - 11
12-25380332-CT-GA c.125_126delinsTC p.K42I Missense 3/5 - 2
12-25380332-CTT-GTC c.124_126delinsGAC p.K42D Missense 3/5 - 1
12-25380333-T-C c.125A>G p.K42R Missense 3/5 - 3
12-25380333-TT-GC c.124_125delinsGC p.K42A Missense 3/5 - 1
12-25380332-C-CT c.125dup p.Q43Afs*5 Frameshift 3/5 - 1
12-25380334-T-C c.124A>G p.K42E Missense 3/5 - 1
12-25380334-T-TGCA c.123_124insTGC p.R41_K42insC InFrameInsertion 3/5 - 1
12-25380333-TTCC-T c.122_124del p.R41del InFrameDeletion 3/5 - 1
12-25380335-C-A c.123G>T p.R41S Missense 3/5 - 4
12-25380335-CC-GA c.122_123delinsTC p.R41I Missense 3/5 - 1
12-25380335-C-G c.123G>C p.R41S Missense 3/5 - 1
12-25380335-C-T c.123G>A p.R41= Synonymous 3/5 - 2
12-25380337-T-G c.121A>C p.R41= Synonymous 3/5 - 2
12-25380336-C-A c.122G>T p.R41M Missense 3/5 - 2
12-25380336-C-T c.122G>A p.R41K Missense 3/5 - 5
12-25380336-CT-GC c.121_122delinsGC p.R41A Missense 3/5 - 2
12-25380336-CT-TC c.121_122delinsGA p.R41E Missense 3/5 - 2
12-25380336-CT-TG c.121_122delinsCA p.R41Q Missense 3/5 - 1
12-25380337-CT-C c.121del p.R41Gfs*4 Frameshift 3/5 - 1
12-25380337-T-A c.121A>T p.R41W Missense 3/5 - 1
12-25380337-T-C c.121A>G p.R41G Missense 3/5 - 6
12-25380338-G-A c.120C>T p.Y40= Synonymous 3/5 - 4
12-25380338-G-T c.120C>A p.Y40* Nonsense 3/5 - 1
12-25380339-GTAGGAATC-G c.112_119del p.D38Qfs*7 SpliceAcceptorDeletion 3/5 - 1
12-25380339-T-A c.119A>T p.Y40F Missense 3/5 - 2
12-25380339-TA-GC c.118_119delinsGC p.Y40A Missense 3/5 - 15
12-25380339-T-C c.119A>G p.Y40C Missense 3/5 - 18
12-25380339-T-G c.119A>C p.Y40S Missense 3/5 - 1
12-25380340-A-C c.118T>G p.Y40D Missense 3/5 - 1
12-25380340-A-G c.118T>C p.Y40H Missense 3/5 - 3
12-25380340-A-T c.118T>A p.Y40N Missense 3/5 - 1
12-25380341-G-A c.117C>T p.S39= Synonymous 3/5 - 3
12-25380341-G-C c.117C>G p.S39= Synonymous 3/5 - 2
12-25380341-GGA-CTT c.115_117delinsAAG p.S39K Missense 3/5 - 1
12-25380341-G-T c.117C>A p.S39= Synonymous 3/5 - 3
12-25380342-G-A c.116C>T p.S39F Missense 3/5 - 4
12-25380342-G-C c.116C>G p.S39C Missense 3/5 - 3
12-25380342-G-T c.116C>A p.S39Y Missense 3/5 - 3
12-25380343-A-G c.115T>C p.S39P Missense 3/5 - 1
12-25380342-GA-G c.115del p.S39Pfs*6 Frameshift 3/5 - 1
12-25380344-A-C c.114T>G p.D38E Missense 3/5 - 6
12-25380344-A-G c.114T>C p.D38= Synonymous 3/5 - 11
12-25380344-A-T c.114T>A p.D38E Missense 3/5 - 6
12-25380344-ATC-CTT c.112_114delinsAAG p.D38K Missense 3/5 - 1
12-25380345-T-A c.113A>T p.D38V Missense 3/5 - 1
12-25380345-T-C c.113A>G p.D38G Missense 3/5 - 3
12-25380345-T-G c.113A>C p.D38A Missense 3/5 - 6
12-25380346-C-A c.112G>T p.D38Y Missense 3/5 - 3
12-25380346-C-T c.112G>A p.D38N Missense 3/5 - 4
12-25380351-G-A c.112-5C>T - IntronicSNV - 2/4 1
12-25380351-G-C c.112-5C>G - IntronicSNV - 2/4 1
12-25380608-C-A c.112-262G>T - IntronicSNV - 2/4 1
12-25380608-C-G c.112-262G>C - IntronicSNV - 2/4 1
12-25380840-G-A c.112-494C>T - IntronicSNV - 2/4 1
12-25380927-C-G c.112-581G>C - IntronicSNV - 2/4 1
12-25380927-C-T c.112-581G>A - IntronicSNV - 2/4 1
12-25381346-G-C c.112-1000C>G - IntronicSNV - 2/4 1
12-25381353-C-A c.112-1007G>T - IntronicSNV - 2/4 1
12-25381353-C-G c.112-1007G>C - IntronicSNV - 2/4 1
12-25381447-A-C c.112-1101T>G - IntronicSNV - 2/4 1
12-25381819-C-A c.112-1473G>T - IntronicSNV - 2/4 1
12-25381819-C-T c.112-1473G>A - IntronicSNV - 2/4 1
12-25381823-T-A c.112-1477A>T - IntronicSNV - 2/4 1
12-25381849-C-T c.112-1503G>A - IntronicSNV - 2/4 1
12-25381862-G-A c.112-1516C>T - IntronicSNV - 2/4 1
12-25381862-G-T c.112-1516C>A - IntronicSNV - 2/4 1
12-25381987-G-A c.112-1641C>T - IntronicSNV - 2/4 1
12-25381999-C-G c.112-1653G>C - IntronicSNV - 2/4 1
12-25382023-A-T c.112-1677T>A - IntronicSNV - 2/4 1
12-25382070-A-T c.112-1724T>A - IntronicSNV - 2/4 1
12-25382186-T-G c.112-1840A>C - IntronicSNV - 2/4 5
12-25382542-C-T c.112-2196G>A - IntronicSNV - 2/4 1
12-25382853-C-A c.112-2507G>T - IntronicSNV - 2/4 1
12-25382864-G-A c.112-2518C>T - IntronicSNV - 2/4 1
12-25382880-G-GT c.112-2535dup - IntronicInsertion - 2/4 1
12-25383194-C-T c.112-2848G>A - IntronicSNV - 2/4 1
12-25383509-C-T c.112-3163G>A - IntronicSNV - 2/4 1
12-25383813-A-G c.112-3467T>C - IntronicSNV - 2/4 2
12-25384168-T-C c.112-3822A>G - IntronicSNV - 2/4 1
12-25384658-T-A c.112-4312A>T - IntronicSNV - 2/4 3
12-25384658-T-C c.112-4312A>G - IntronicSNV - 2/4 3
12-25385428-C-T c.112-5082G>A - IntronicSNV - 2/4 2
12-25385904-T-C c.112-5558A>G - IntronicSNV - 2/4 1
12-25385904-T-G c.112-5558A>C - IntronicSNV - 2/4 1
12-25385910-T-C c.112-5564A>G - IntronicSNV - 2/4 2
12-25386940-C-T c.112-6594G>A - IntronicSNV - 2/4 1
12-25388264-C-A c.112-7918G>T - IntronicSNV - 2/4 1
12-25388290-G-T c.112-7944C>A - IntronicSNV - 2/4 4
12-25388316-G-C c.112-7970C>G - IntronicSNV - 2/4 4
12-25388316-G-T c.112-7970C>A - IntronicSNV - 2/4 4
12-25388771-G-C c.112-8425C>G - IntronicSNV - 2/4 1
12-25389220-A-G c.112-8874T>C - IntronicSNV - 2/4 2
12-25389507-A-C c.111+8701T>G - IntronicSNV - 2/4 1
12-25389507-A-G c.111+8701T>C - IntronicSNV - 2/4 3
12-25389567-T-G c.111+8641A>C - IntronicSNV - 2/4 1
12-25389605-G-A c.111+8603C>T - IntronicSNV - 2/4 2
12-25391064-A-C c.111+7144T>G - IntronicSNV - 2/4 1
12-25391239-G-C c.111+6969C>G - IntronicSNV - 2/4 1
12-25391456-C-T c.111+6752G>A - IntronicSNV - 2/4 2
12-25392282-C-T c.111+5926G>A - IntronicSNV - 2/4 3
12-25392443-C-T c.111+5765G>A - IntronicSNV - 2/4 3
12-25393013-G-C c.111+5195C>G - IntronicSNV - 2/4 1
12-25393043-A-G c.111+5165T>C - IntronicSNV - 2/4 1
12-25393059-TAA-T c.111+5148_111+5149del - IntronicDeletion - 2/4 1
12-25393066-C-T c.111+5142G>A - IntronicSNV - 2/4 1
12-25393071-A-G c.111+5137T>C - IntronicSNV - 2/4 1
12-25393079-C-T c.111+5129G>A - IntronicSNV - 2/4 1
12-25393523-T-C c.111+4685A>G - IntronicSNV - 2/4 1
12-25393865-A-C c.111+4343T>G - IntronicSNV - 2/4 3
12-25394779-C-T c.111+3429G>A - IntronicSNV - 2/4 4
12-25396035-C-T c.111+2173G>A - IntronicSNV - 2/4 1
12-25396576-C-T c.111+1632G>A - IntronicSNV - 2/4 3
12-25396730-G-T c.111+1478C>A - IntronicSNV - 2/4 1
12-25397032-G-A c.111+1176C>T - IntronicSNV - 2/4 1
12-25397555-T-TA c.111+652dup - IntronicInsertion - 2/4 1
12-25397702-C-T c.111+506G>A - IntronicSNV - 2/4 1
12-25397964-CTGAAATACACTTCCAATCAAAATGCACAGAGAGTGAA-C c.111+208_111+244del - IntronicDeletion - 2/4 1
12-25398018-T-A c.111+190A>T - IntronicSNV - 2/4 2
12-25398018-T-C c.111+190A>G - IntronicSNV - 2/4 1
12-25398100-C-T c.111+108G>A - IntronicSNV - 2/4 1
12-25398207-C-A c.111+1G>T - IntronicSNV - 2/4 1
12-25398207-C-T c.111+1G>A - IntronicSNV - 2/4 2
12-25398208-C-A c.111G>T p.E37D Missense 2/5 - 4
12-25398208-C-G c.111G>C p.E37D Missense 2/5 - 3
12-25398208-C-T c.111G>A p.E37= Synonymous 2/5 - 2
12-25398209-T-C c.110A>G p.E37G Missense 2/5 - 14
12-25398209-TC-CA c.109_110delinsTG p.E37W Missense 2/5 - 1
12-25398209-T-G c.110A>C p.E37A Missense 2/5 - 2
12-25398210-C-A c.109G>T p.E37* Nonsense 2/5 - 2
12-25398210-C-G c.109G>C p.E37Q Missense 2/5 - 1
12-25398210-C-T c.109G>A p.E37K Missense 2/5 - 12
12-25398210-TC-T c.109del p.E37Rfs*8 Frameshift 2/5 - 1
12-25398211-TA-GT c.107_108delinsAC p.I36N Missense 2/5 - 1
12-25398211-TAT-AAA c.106_108delinsTTT p.I36F Missense 2/5 - 1
12-25398211-T-C c.108A>G p.I36M Missense 2/5 - 39
12-25398212-A-C c.107T>G p.I36R Missense 2/5 - 1
12-25398212-A-T c.107T>A p.I36K Missense 2/5 - 1
12-25398212-AT-GC c.106_107delinsGC p.I36A Missense 2/5 - 3
12-25398213-T-A c.106A>T p.I36L Missense 2/5 - 6
12-25398213-T-C c.106A>G p.I36V Missense 2/5 - 2
12-25398213-T-G c.106A>C p.I36L Missense 2/5 - 2
12-25398214-T-A c.105A>T p.T35= Synonymous 2/5 - 2
12-25398214-T-C c.105A>G p.T35= Synonymous 2/5 - 3
12-25398214-T-G c.105A>C p.T35= Synonymous 2/5 - 4
12-25398214-TG-CA c.104_105inv p.T35M Missense 2/5 - 1
12-25398214-TG-GT c.104_105delinsAC p.T35N Missense 2/5 - 1
12-25398215-G-A c.104C>T p.T35I Missense 2/5 - 11
12-25398215-G-T c.104C>A p.T35K Missense 2/5 - 1
12-25398215-GT-CC c.103_104delinsGG p.T35G Missense 2/5 - 1
12-25398215-TG-T c.104del p.T35Kfs*2 Frameshift 2/5 - 1
12-25398216-T-A c.103A>T p.T35S Missense 2/5 - 27
12-25398216-T-C c.103A>G p.T35A Missense 2/5 - 14
12-25398216-T-G c.103A>C p.T35P Missense 2/5 - 1
12-25398217-T-A c.102A>T p.P34= Synonymous 2/5 - 4
12-25398217-T-C c.102A>G p.P34= Synonymous 2/5 - 4
12-25398217-T-G c.102A>C p.P34= Synonymous 2/5 - 3
12-25398217-TG-AT c.101_102delinsAT p.P34H Missense 2/5 - 1
12-25398218-G-A c.101C>T p.P34L Missense 2/5 - 43
12-25398218-G-C c.101C>G p.P34R Missense 2/5 - 47
12-25398218-GG-CC c.100_101inv p.P34G Missense 2/5 - 1
12-25398218-G-T c.101C>A p.P34Q Missense 2/5 - 12
12-25398219-G-A c.100C>T p.P34S Missense 2/5 - 7
12-25398219-G-C c.100C>G p.P34A Missense 2/5 - 2
12-25398219-G-T c.100C>A p.P34T Missense 2/5 - 2
12-25398220-A-C c.99T>G p.D33E Missense 2/5 - 58
12-25398220-A-G c.99T>C p.D33= Synonymous 2/5 - 4
12-25398220-A-T c.99T>A p.D33E Missense 2/5 - 59
12-25398220-ATC-CTT c.97_99delinsAAG p.D33K Missense 2/5 - 1
12-25398221-T-C c.98A>G p.D33G Missense 2/5 - 5
12-25398221-TC-CA c.97_98delinsTG p.D33C Missense 2/5 - 1
12-25398221-T-G c.98A>C p.D33A Missense 2/5 - 2
12-25398222-C-A c.97G>T p.D33Y Missense 2/5 - 2
12-25398222-C-G c.97G>C p.D33H Missense 2/5 - 2
12-25398222-C-T c.97G>A p.D33N Missense 2/5 - 6
12-25398223-A-G c.96T>C p.Y32= Synonymous 2/5 - 1
12-25398223-AT-CC c.95_96delinsGG p.Y32W Missense 2/5 - 1
12-25398224-T-A c.95A>T p.Y32F Missense 2/5 - 8
12-25398224-TA-GC c.94_95delinsGC p.Y32A Missense 2/5 - 1
12-25398224-T-C c.95A>G p.Y32C Missense 2/5 - 3
12-25398224-T-G c.95A>C p.Y32S Missense 2/5 - 5
12-25398225-A-G c.94T>C p.Y32H Missense 2/5 - 2
12-25398226-T-A c.93A>T p.E31D Missense 2/5 - 6
12-25398226-T-C c.93A>G p.E31= Synonymous 2/5 - 4
12-25398226-T-G c.93A>C p.E31D Missense 2/5 - 5
12-25398226-TTC-ATA c.91_93delinsTAT p.E31Y Missense 2/5 - 1
12-25398226-TTC-CCA c.91_93delinsTGG p.E31W Missense 2/5 - 1
12-25398227-T-C c.92A>G p.E31G Missense 2/5 - 1
12-25398227-TC-CT c.91_92delinsAG p.E31R Missense 2/5 - 1
12-25398227-TC-GG c.91_92delinsCC p.E31P Missense 2/5 - 1
12-25398228-C-A c.91G>T p.E31* Nonsense 2/5 - 3
12-25398228-C-G c.91G>C p.E31Q Missense 2/5 - 9
12-25398228-C-T c.91G>A p.E31K Missense 2/5 - 23
12-25398229-G-A c.90C>T p.D30= Synonymous 2/5 - 8
12-25398229-G-C c.90C>G p.D30E Missense 2/5 - 2
12-25398229-G-T c.90C>A p.D30E Missense 2/5 - 3
12-25398230-T-C c.89A>G p.D30G Missense 2/5 - 2
12-25398230-TC-CA c.88_89delinsTG p.D30C Missense 2/5 - 2
12-25398230-TC-CG c.88_89delinsCG p.D30R Missense 2/5 - 1
12-25398230-T-G c.89A>C p.D30A Missense 2/5 - 3
12-25398231-C-A c.88G>T p.D30Y Missense 2/5 - 2
12-25398231-C-G c.88G>C p.D30H Missense 2/5 - 1
12-25398231-C-T c.88G>A p.D30N Missense 2/5 - 5
12-25398232-C-A c.87G>T p.V29= Synonymous 2/5 - 3
12-25398232-C-G c.87G>C p.V29= Synonymous 2/5 - 2
12-25398232-C-T c.87G>A p.V29= Synonymous 2/5 - 3
12-25398233-A-C c.86T>G p.V29G Missense 2/5 - 2
12-25398233-A-G c.86T>C p.V29A Missense 2/5 - 2
12-25398233-A-T c.86T>A p.V29E Missense 2/5 - 1
12-25398234-C-A c.85G>T p.V29L Missense 2/5 - 1
12-25398234-C-T c.85G>A p.V29M Missense 2/5 - 4
12-25398235-A-AC c.83_84insG p.F28Lfs*6 Frameshift 2/5 - 1
12-25398235-A-G c.84T>C p.F28= Synonymous 2/5 - 2
12-25398236-AA-TC c.82_83delinsGA p.F28D Missense 2/5 - 1
12-25398236-A-C c.83T>G p.F28C Missense 2/5 - 2
12-25398236-A-G c.83T>C p.F28S Missense 2/5 - 3
12-25398235-A-C c.84T>G p.F28L Missense 2/5 - 13
12-25398235-A-T c.84T>A p.F28L Missense 2/5 - 14
12-25398237-A-G c.82T>C p.F28L Missense 2/5 - 13
12-25398234-CA-C c.84del p.F28Lfs*9 Frameshift 2/5 - 1
12-25398234-C-CA c.84dup p.V29Cfs*5 Frameshift 2/5 - 1
12-25398238-A-C c.81T>G p.H27Q Missense 2/5 - 1
12-25398238-A-G c.81T>C p.H27= Synonymous 2/5 - 7
12-25398238-A-T c.81T>A p.H27Q Missense 2/5 - 1
12-25398239-T-A c.80A>T p.H27L Missense 2/5 - 2
12-25398239-T-C c.80A>G p.H27R Missense 2/5 - 2
12-25398239-T-G c.80A>C p.H27P Missense 2/5 - 1
12-25398239-TG-CC c.79_80delinsGG p.H27G Missense 2/5 - 1
12-25398239-TG-GC c.79_80delinsGC p.H27A Missense 2/5 - 1
12-25398240-G-A c.79C>T p.H27Y Missense 2/5 - 5
12-25398240-G-T c.79C>A p.H27N Missense 2/5 - 1
12-25398241-A-C c.78T>G p.N26K Missense 2/5 - 3
12-25398241-A-G c.78T>C p.N26= Synonymous 2/5 - 3
12-25398241-A-T c.78T>A p.N26K Missense 2/5 - 2
12-25398241-AT-GTTCC c.77_78delinsGGAAC p.Q25_N26insR MultiAAMissense 2/5 - 1
12-25398242-T-A c.77A>T p.N26I Missense 2/5 - 4
12-25398242-T-C c.77A>G p.N26S Missense 2/5 - 5
12-25398242-T-G c.77A>C p.N26T Missense 2/5 - 1
12-25398242-TT-CC c.76_77delinsGG p.N26G Missense 2/5 - 2
12-25398242-T-TGCC c.76_77insGGC p.N26delinsRH MultiAAMissense 2/5 - 1
12-25398241-AT-A c.77del p.N26Ifs*11 Frameshift 2/5 - 1
12-25398243-T-A c.76A>T p.N26Y Missense 2/5 - 4
12-25398243-T-C c.76A>G p.N26D Missense 2/5 - 3
12-25398244-C-A c.75G>T p.Q25H Missense 2/5 - 7
12-25398244-C-G c.75G>C p.Q25H Missense 2/5 - 6
12-25398244-C-T c.75G>A p.Q25= Synonymous 2/5 - 1
12-25398245-CT-C c.74del p.Q25Rfs*12 Frameshift 2/5 - 1
12-25398245-T-A c.74A>T p.Q25L Missense 2/5 - 1
12-25398245-T-C c.74A>G p.Q25R Missense 2/5 - 3
12-25398245-T-G c.74A>C p.Q25P Missense 2/5 - 2
12-25398245-TG-GC c.73_74delinsGC p.Q25A Missense 2/5 - 4
12-25398246-G-A c.73C>T p.Q25* Nonsense 2/5 - 5
12-25398246-G-T c.73C>A p.Q25K Missense 2/5 - 1
12-25398247-A-C c.72T>G p.I24M Missense 2/5 - 1
12-25398247-A-G c.72T>C p.I24= Synonymous 2/5 - 1
12-25398247-A-T c.72T>A p.I24= Synonymous 2/5 - 1
12-25398248-A-C c.71T>G p.I24S Missense 2/5 - 1
12-25398248-A-G c.71T>C p.I24T Missense 2/5 - 2
12-25398248-A-T c.71T>A p.I24N Missense 2/5 - 26
12-25398249-T-A c.70A>T p.I24F Missense 2/5 - 1
12-25398249-T-C c.70A>G p.I24V Missense 2/5 - 2
12-25398249-T-G c.70A>C p.I24L Missense 2/5 - 1
12-25398250-T-A c.69A>T p.L23= Synonymous 2/5 - 3
12-25398250-T-C c.69A>G p.L23= Synonymous 2/5 - 5
12-25398250-T-G c.69A>C p.L23= Synonymous 2/5 - 3
12-25398252-G-A c.67C>T p.L23= Synonymous 2/5 - 3
12-25398251-A-C c.68T>G p.L23R Missense 2/5 - 17
12-25398251-A-G c.68T>C p.L23P Missense 2/5 - 1
12-25398251-AG-GC c.67_68delinsGC p.L23A Missense 2/5 - 2
12-25398251-A-T c.68T>A p.L23Q Missense 2/5 - 1
12-25398252-G-C c.67C>G p.L23V Missense 2/5 - 1
12-25398252-G-T c.67C>A p.L23I Missense 2/5 - 2
12-25398253-C-A c.66G>T p.Q22H Missense 2/5 - 3
12-25398253-C-G c.66G>C p.Q22H Missense 2/5 - 2
12-25398253-C-T c.66G>A p.Q22= Synonymous 2/5 - 5
12-25398254-T-A c.65A>T p.Q22L Missense 2/5 - 7
12-25398254-T-C c.65A>G p.Q22R Missense 2/5 - 37
12-25398254-T-G c.65A>C p.Q22P Missense 2/5 - 1
12-25398254-TG-GC c.64_65delinsGC p.Q22A Missense 2/5 - 1
12-25398255-G-A c.64C>T p.Q22* Nonsense 2/5 - 8
12-25398255-G-C c.64C>G p.Q22E Missense 2/5 - 22
12-25398255-G-GA c.63_64insT p.Q22Sfs*12 Frameshift 2/5 - 1
12-25398255-G-T c.64C>A p.Q22K Missense 2/5 - 147
12-25398256-TA-GC c.62_63delinsGC p.I21S Missense 2/5 - 2
12-25398256-T-C c.63A>G p.I21M Missense 2/5 - 3
12-25398257-A-C c.62T>G p.I21R Missense 2/5 - 11
12-25398257-A-G c.62T>C p.I21T Missense 2/5 - 2
12-25398257-AT-GC c.61_62delinsGC p.I21A Missense 2/5 - 1
12-25398258-T-A c.61A>T p.I21L Missense 2/5 - 1
12-25398258-T-C c.61A>G p.I21V Missense 2/5 - 1
12-25398258-T-G c.61A>C p.I21L Missense 2/5 - 1
12-25398259-C-A c.60G>T p.T20= Synonymous 2/5 - 4
12-25398259-C-G c.60G>C p.T20= Synonymous 2/5 - 2
12-25398259-CGT-GCTAAA c.58_60delinsTTTAGC p.T20delinsFS MultiAAMissense 2/5 - 1
12-25398259-C-T c.60G>A p.T20= Synonymous 2/5 - 4
12-25398260-G-A c.59C>T p.T20M Missense 2/5 - 17
12-25398260-G-C c.59C>G p.T20R Missense 2/5 - 13
12-25398260-G-T c.59C>A p.T20K Missense 2/5 - 3
12-25398260-GT-AC c.58_59inv p.T20V Missense 2/5 - 1
12-25398261-T-A c.58A>T p.T20S Missense 2/5 - 2
12-25398261-T-C c.58A>G p.T20A Missense 2/5 - 10
12-25398262-C-A c.57G>T p.L19F Missense 2/5 - 136
12-25398262-C-G c.57G>C p.L19F Missense 2/5 - 137
12-25398263-AA-GC c.55_56delinsGC p.L19A Missense 2/5 - 1
12-25398263-AA-GG c.55_56delinsCC p.L19P Missense 2/5 - 1
12-25398263-A-G c.56T>C p.L19S Missense 2/5 - 3
12-25398262-C-CA c.56dup p.L19Ffs*15 Frameshift 2/5 - 1
12-25398262-C-T c.57G>A p.L19= Synonymous 2/5 - 2
12-25398264-A-G c.55T>C p.L19= Synonymous 2/5 - 2
12-25398265-AGGC-A c.52_54del p.A18del InFrameDeletion 2/5 - 1
12-25398265-G-A c.54C>T p.A18= Synonymous 2/5 - 3
12-25398265-G-C c.54C>G p.A18= Synonymous 2/5 - 3
12-25398265-GGC-CAT c.52_54delinsATG p.A18M Missense 2/5 - 1
12-25398265-GG-CT c.53_54delinsAG p.A18E Missense 2/5 - 1
12-25398265-GGC-TTG c.52_54delinsCAA p.A18Q Missense 2/5 - 1
12-25398265-G-T c.54C>A p.A18= Synonymous 2/5 - 4
12-25398266-G-A c.53C>T p.A18V Missense 2/5 - 12
12-25398266-G-C c.53C>G p.A18G Missense 2/5 - 3
12-25398266-GC-AA c.52_53delinsTT p.A18F Missense 2/5 - 3
12-25398266-GC-AG c.52_53delinsCT p.A18L Missense 2/5 - 2
12-25398266-GC-CA c.52_53delinsTG p.A18C Missense 2/5 - 2
12-25398266-GC-CG c.52_53delinsCG p.A18R Missense 2/5 - 1
12-25398266-GC-TA c.52_53delinsTA p.A18Y Missense 2/5 - 4
12-25398266-GC-TT c.52_53delinsAA p.A18N Missense 2/5 - 1
12-25398266-G-T c.53C>A p.A18D Missense 2/5 - 70
12-25398267-C-A c.52G>T p.A18S Missense 2/5 - 5
12-25398267-C-G c.52G>C p.A18P Missense 2/5 - 4
12-25398267-C-T c.52G>A p.A18T Missense 2/5 - 12
12-25398268-A-C c.51T>G p.S17R Missense 2/5 - 2
12-25398268-ACT-CTC c.49_51delinsGAG p.S17E Missense 2/5 - 5
12-25398268-A-G c.51T>C p.S17= Synonymous 2/5 - 2
12-25398268-A-T c.51T>A p.S17R Missense 2/5 - 2
12-25398270-T-G c.49A>C p.S17R Missense 2/5 - 2
12-25398269-C-A c.50G>T p.S17I Missense 2/5 - 2
12-25398269-C-CCCA c.49_50insTGG p.S17delinsMG MultiAAMissense 2/5 - 1
12-25398269-C-G c.50G>C p.S17T Missense 2/5 - 5
12-25398269-C-T c.50G>A p.S17N Missense 2/5 - 48
12-25398269-CT-AA c.49_50delinsTT p.S17F Missense 2/5 - 1
12-25398269-CT-GC c.49_50delinsGC p.S17A Missense 2/5 - 36
12-25398269-CT-TC c.49_50delinsGA p.S17D Missense 2/5 - 3
12-25398270-T-A c.49A>T p.S17C Missense 2/5 - 13
12-25398270-T-C c.49A>G p.S17G Missense 2/5 - 10
12-25398270-T-TAAG c.48_49insCTT p.K16_S17insL InFrameInsertion 2/5 - 1
12-25398271-C-A c.48G>T p.K16N Missense 2/5 - 4
12-25398271-C-G c.48G>C p.K16N Missense 2/5 - 3
12-25398271-C-T c.48G>A p.K16= Synonymous 2/5 - 1
12-25398272-T-A c.47A>T p.K16M Missense 2/5 - 2
12-25398272-T-C c.47A>G p.K16R Missense 2/5 - 4
12-25398272-T-G c.47A>C p.K16T Missense 2/5 - 2
12-25398272-TT-GC c.46_47delinsGC p.K16A Missense 2/5 - 1
12-25398273-T-C c.46A>G p.K16E Missense 2/5 - 4
12-25398273-T-G c.46A>C p.K16Q Missense 2/5 - 1
12-25398273-T-TC c.45_46insG p.K16Efs*18 Frameshift 2/5 - 1
12-25398274-G-A c.45C>T p.G15= Synonymous 2/5 - 3
12-25398274-G-C c.45C>G p.G15= Synonymous 2/5 - 4
12-25398274-GC-CT c.44_45delinsAG p.G15E Missense 2/5 - 1
12-25398274-G-T c.45C>A p.G15= Synonymous 2/5 - 3
12-25398275-C-A c.44G>T p.G15V Missense 2/5 - 7
12-25398275-CC-GT c.43_44delinsAC p.G15T Missense 2/5 - 1
12-25398275-CC-TA c.43_44delinsTA p.G15Y Missense 2/5 - 1
12-25398275-C-G c.44G>C p.G15A Missense 2/5 - 4
12-25398275-C-T c.44G>A p.G15D Missense 2/5 - 6
12-25398275-GCCTACGCC-G c.37_44del p.G13Qfs*18 Frameshift 2/5 - 1
12-25398276-C-A c.43G>T p.G15C Missense 2/5 - 3
12-25398276-C-G c.43G>C p.G15R Missense 2/5 - 2
12-25398276-C-T c.43G>A p.G15S Missense 2/5 - 14
12-25398277-T-A c.42A>T p.V14= Synonymous 2/5 - 3
12-25398277-TAC-CAT c.40_42delinsATG p.V14M Missense 2/5 - 1
12-25398277-TA-GATGT c.41_42delinsACATC p.V14delinsDI MultiAAMissense 2/5 - 1
12-25398277-T-C c.42A>G p.V14= Synonymous 2/5 - 3
12-25398277-T-G c.42A>C p.V14= Synonymous 2/5 - 2
12-25398278-A-C c.41T>G p.V14G Missense 2/5 - 4
12-25398278-AC-TA c.40_41delinsTA p.V14* Nonsense 2/5 - 1
12-25398278-A-G c.41T>C p.V14A Missense 2/5 - 9
12-25398278-A-T c.41T>A p.V14E Missense 2/5 - 1
12-25398278-A-ACAC c.40_41insGTG p.G13dup InFrameInsertion 2/5 - 4
12-25398279-AC-A c.40del p.V14* Frameshift 2/5 - 1
12-25398279-C-A c.40G>T p.V14L Missense 2/5 - 17
12-25398279-C-G c.40G>C p.V14L Missense 2/5 - 13
12-25398279-C-T c.40G>A p.V14I Missense 2/5 - 172
12-25398280-G-A c.39C>T p.G13= Synonymous 2/5 - 34
12-25398280-G-C c.39C>G p.G13= Synonymous 2/5 - 25
12-25398280-GC-ACCACCTG c.38_39delinsCAGGTGGT p.A11_G12dup MultiAAMissense 2/5 - 1
12-25398280-GC-AT c.38_39delinsAT p.G13D Missense 2/5 - 2
12-25398280-GCC-CAT c.37_39delinsATG p.G13M Missense 2/5 - 1
12-25398280-GC-CT c.38_39delinsAG p.G13E Missense 2/5 - 24
12-25398280-GCC-TCA c.37_39delinsTGA p.G13* Nonsense 2/5 - 44
12-25398280-G-T c.39C>A p.G13= Synonymous 2/5 - 30
12-25398280-G-TACA c.39delinsTGTA p.V14dup MultiAAMissense 2/5 - 1
12-25398281-C-A c.38G>T p.G13V Missense 2/5 - 216
12-25398281-CC-AA c.37_38delinsTT p.G13F Missense 2/5 - 5
12-25398281-CC-AT c.37_38delinsAT p.G13I Missense 2/5 - 7
12-25398281-CC-GG c.37_38inv p.G13P Missense 2/5 - 11
12-25398281-CC-TA c.37_38delinsTA p.G13Y Missense 2/5 - 7
12-25398281-CC-TG c.37_38delinsCA p.G13H Missense 2/5 - 2
12-25398281-CC-TT c.37_38delinsAA p.G13N Missense 2/5 - 12
12-25398281-C-G c.38G>C p.G13A Missense 2/5 - 130
12-25398281-C-T c.38G>A p.G13D Missense 2/5 - 2424
12-25398281-C-CCTG c.37_38insCAG p.G12_G13insA InFrameInsertion 2/5 - 3
12-25398282-C-A c.37G>T p.G13C Missense 2/5 - 579
12-25398282-CA-G c.36_37delinsC p.G13Afs*2 Frameshift 2/5 - 1
12-25398282-C-G c.37G>C p.G13R Missense 2/5 - 198
12-25398282-C-T c.37G>A p.G13S Missense 2/5 - 155
12-25398283-A-ATCAGCT c.35_36insAGCTGA p.G12_G13insAD InFrameInsertion 2/5 - 1
12-25398283-A-C c.36T>G p.G12= Synonymous 2/5 - 23
12-25398283-ACC-CCA c.34_36delinsTGG p.G12W Missense 2/5 - 28
12-25398283-ACC-CTT c.34_36delinsAAG p.G12K Missense 2/5 - 3
12-25398283-AC-CT c.35_36delinsAG p.G12E Missense 2/5 - 20
12-25398283-ACC-TCA c.34_36delinsTGA p.G12* Nonsense 2/5 - 101
12-25398283-ACC-TTG c.34_36delinsCAA p.G12Q Missense 2/5 - 1
12-25398283-A-G c.36T>C p.G12= Synonymous 2/5 - 29
12-25398283-A-T c.36T>A p.G12= Synonymous 2/5 - 25
12-25398284-ACC-A c.34_35del p.G12Wfs*21 Frameshift 2/5 - 1
12-25398284-C-A c.35G>T p.G12V Missense 2/5 - 3645
12-25398284-CC-AA c.34_35delinsTT p.G12F Missense 2/5 - 169
12-25398284-CC-AG c.34_35delinsCT p.G12L Missense 2/5 - 51
12-25398284-CC-AT c.34_35delinsAT p.G12I Missense 2/5 - 32
12-25398284-CC-GG c.34_35inv p.G12P Missense 2/5 - 5
12-25398284-CC-GT c.34_35delinsAC p.G12T Missense 2/5 - 9
12-25398284-CC-TA c.34_35delinsTA p.G12Y Missense 2/5 - 24
12-25398284-CC-TG c.34_35delinsCA p.G12H Missense 2/5 - 6
12-25398284-CC-TT c.34_35delinsAA p.G12N Missense 2/5 - 23
12-25398284-C-G c.35G>C p.G12A Missense 2/5 - 1421
12-25398284-C-T c.35G>A p.G12D Missense 2/5 - 5760
12-25398281-C-CCACCTG c.37_38insCAGGTG p.A11_G12dup InFrameInsertion 2/5 - 12
12-25398283-AC-A c.35del p.G12Vfs*3 Frameshift 2/5 - 4
12-25398284-C-CCTA c.34_35insTAG p.A11_G12insV InFrameInsertion 2/5 - 1
12-25398285-C-A c.34G>T p.G12C Missense 2/5 - 2965
12-25398285-C-CT c.33_34insA p.G12Rfs*22 Frameshift 2/5 - 1
12-25398285-C-G c.34G>C p.G12R Missense 2/5 - 1215
12-25398285-C-T c.34G>A p.G12S Missense 2/5 - 1414
12-25398284-C-CCACCTG c.34_35insCAGGTG p.A11_G12insAG InFrameInsertion 2/5 - 1
12-25398286-A-C c.33T>G p.A11= Synonymous 2/5 - 11
12-25398286-A-G c.33T>C p.A11= Synonymous 2/5 - 15
12-25398286-AGC-CAT c.31_33delinsATG p.A11M Missense 2/5 - 3
12-25398286-AGC-CCA c.31_33delinsTGG p.A11W Missense 2/5 - 4
12-25398286-AG-CT c.32_33inv p.A11E Missense 2/5 - 4
12-25398286-AGC-TTG c.31_33delinsCAA p.A11Q Missense 2/5 - 1
12-25398286-A-T c.33T>A p.A11= Synonymous 2/5 - 13
12-25398287-G-A c.32C>T p.A11V Missense 2/5 - 19
12-25398287-G-C c.32C>G p.A11G Missense 2/5 - 3
12-25398287-GC-AA c.31_32delinsTT p.A11F Missense 2/5 - 1
12-25398287-GC-AG c.31_32delinsCT p.A11L Missense 2/5 - 2
12-25398287-GC-AT c.31_32delinsAT p.A11I Missense 2/5 - 1
12-25398287-GC-CA c.31_32delinsTG p.A11C Missense 2/5 - 2
12-25398287-GC-CG c.31_32delinsCG p.A11R Missense 2/5 - 1
12-25398287-GC-TG c.31_32delinsCA p.A11H Missense 2/5 - 1
12-25398287-GC-TT c.31_32delinsAA p.A11N Missense 2/5 - 4
12-25398287-G-T c.32C>A p.A11D Missense 2/5 - 10
12-25398287-G-GCAC c.31_32insGTG p.G10dup InFrameInsertion 2/5 - 6
12-25398288-C-A c.31G>T p.A11S Missense 2/5 - 3
12-25398288-C-G c.31G>C p.A11P Missense 2/5 - 8
12-25398288-C-T c.31G>A p.A11T Missense 2/5 - 14
12-25398287-GCTC-G c.29_31del p.G10del InFrameDeletion 2/5 - 1
12-25398289-T-A c.30A>T p.G10= Synonymous 2/5 - 2
12-25398289-T-C c.30A>G p.G10= Synonymous 2/5 - 2
12-25398289-TCC-ATG c.28_30delinsCAT p.G10H Missense 2/5 - 1
12-25398289-T-G c.30A>C p.G10= Synonymous 2/5 - 3
12-25398290-C-A c.29G>T p.G10V Missense 2/5 - 6
12-25398290-CC-AG c.28_29delinsCT p.G10L Missense 2/5 - 1
12-25398290-CC-AT c.28_29delinsAT p.G10I Missense 2/5 - 2
12-25398290-CC-GG c.28_29inv p.G10P Missense 2/5 - 2
12-25398290-CC-TT c.28_29delinsAA p.G10K Missense 2/5 - 1
12-25398290-C-G c.29G>C p.G10A Missense 2/5 - 1
12-25398290-C-T c.29G>A p.G10E Missense 2/5 - 5
12-25398290-C-CCTA c.28_29insTAG p.V9dup InFrameInsertion 2/5 - 1
12-25398291-C-A c.28G>T p.G10* Nonsense 2/5 - 4
12-25398291-C-G c.28G>C p.G10R Missense 2/5 - 8
12-25398291-C-T c.28G>A p.G10R Missense 2/5 - 9
12-25398292-A-C c.27T>G p.V9= Synonymous 2/5 - 1
12-25398292-A-G c.27T>C p.V9= Synonymous 2/5 - 2
12-25398292-A-T c.27T>A p.V9= Synonymous 2/5 - 1
12-25398293-A-C c.26T>G p.V9G Missense 2/5 - 1
12-25398293-A-G c.26T>C p.V9A Missense 2/5 - 1
12-25398293-A-T c.26T>A p.V9D Missense 2/5 - 1
12-25398294-C-A c.25G>T p.V9F Missense 2/5 - 1
12-25398294-C-T c.25G>A p.V9I Missense 2/5 - 4
12-25398295-T-A c.24A>T p.V8= Synonymous 2/5 - 4
12-25398295-TAC-CAT c.22_24delinsATG p.V8M Missense 2/5 - 2
12-25398295-T-C c.24A>G p.V8= Synonymous 2/5 - 15
12-25398295-T-G c.24A>C p.V8= Synonymous 2/5 - 4
12-25398296-A-G c.23T>C p.V8A Missense 2/5 - 2
12-25398297-C-A c.22G>T p.V8L Missense 2/5 - 4
12-25398297-C-G c.22G>C p.V8L Missense 2/5 - 2
12-25398297-C-T c.22G>A p.V8I Missense 2/5 - 5
12-25398296-AC-A c.22del p.V8* Frameshift 2/5 - 1
12-25398298-C-A c.21G>T p.V7= Synonymous 2/5 - 2
12-25398298-C-G c.21G>C p.V7= Synonymous 2/5 - 1
12-25398298-C-T c.21G>A p.V7= Synonymous 2/5 - 1
12-25398299-A-C c.20T>G p.V7G Missense 2/5 - 1
12-25398299-A-G c.20T>C p.V7A Missense 2/5 - 1
12-25398299-A-T c.20T>A p.V7E Missense 2/5 - 2
12-25398300-C-A c.19G>T p.V7L Missense 2/5 - 3
12-25398300-C-G c.19G>C p.V7L Missense 2/5 - 1
12-25398300-C-T c.19G>A p.V7M Missense 2/5 - 2
12-25398301-A-G c.18T>C p.L6= Synonymous 2/5 - 1
12-25398302-A-G c.17T>C p.L6P Missense 2/5 - 1
12-25398302-A-T c.17T>A p.L6H Missense 2/5 - 1
12-25398303-G-C c.16C>G p.L6V Missense 2/5 - 1
12-25398303-G-T c.16C>A p.L6I Missense 2/5 - 2
12-25398304-T-A c.15A>T p.K5N Missense 2/5 - 14
12-25398304-T-C c.15A>G p.K5= Synonymous 2/5 - 2
12-25398304-T-G c.15A>C p.K5N Missense 2/5 - 5
12-25398305-T-C c.14A>G p.K5R Missense 2/5 - 1
12-25398305-T-G c.14A>C p.K5T Missense 2/5 - 1
12-25398303-G-GT c.15dup p.L6Tfs*28 Frameshift 2/5 - 2
12-25398303-GT-G c.15del p.K5Nfs*4 Frameshift 2/5 - 1
12-25398306-T-A c.13A>T p.K5* Nonsense 2/5 - 1
12-25398306-T-C c.13A>G p.K5E Missense 2/5 - 27
12-25398307-A-C c.12T>G p.Y4* Nonsense 2/5 - 2
12-25398307-A-T c.12T>A p.Y4* Nonsense 2/5 - 2
12-25398307-TA-T c.12del p.Y4* Frameshift 2/5 - 1
12-25398308-T-A c.11A>T p.Y4F Missense 2/5 - 1
12-25398308-T-C c.11A>G p.Y4C Missense 2/5 - 1
12-25398309-A-G c.10T>C p.Y4H Missense 2/5 - 1
12-25398309-A-T c.10T>A p.Y4N Missense 2/5 - 1
12-25398310-T-A c.9A>T p.E3D Missense 2/5 - 1
12-25398310-T-C c.9A>G p.E3= Synonymous 2/5 - 3
12-25398310-T-G c.9A>C p.E3D Missense 2/5 - 1
12-25398311-T-A c.8A>T p.E3V Missense 2/5 - 1
12-25398311-T-C c.8A>G p.E3G Missense 2/5 - 1
12-25398311-T-TA c.7_8insT p.E3Vfs*3 Frameshift 2/5 - 1
12-25398312-C-A c.7G>T p.E3* Nonsense 2/5 - 3
12-25398312-C-T c.7G>A p.E3K Missense 2/5 - 2
12-25398313-A-C c.6T>G p.T2= Synonymous 2/5 - 10
12-25398313-A-G c.6T>C p.T2= Synonymous 2/5 - 10
12-25398313-A-T c.6T>A p.T2= Synonymous 2/5 - 10
12-25398313-CAGT-C c.4_6del p.T2del InFrameDeletion 2/5 - 1
12-25398314-G-A c.5C>T p.T2I Missense 2/5 - 3
12-25398314-G-C c.5C>G p.T2S Missense 2/5 - 2
12-25398314-G-T c.5C>A p.T2N Missense 2/5 - 1
12-25398315-T-A c.4A>T p.T2S Missense 2/5 - 1
12-25398315-T-C c.4A>G p.T2A Missense 2/5 - 2
12-25398316-C-A c.3G>T p.M1? Missense 2/5 - 2
12-25398316-C-G c.3G>C p.M1? Missense 2/5 - 1
12-25398316-C-T c.3G>A p.M1? Missense 2/5 - 4
12-25398318-T-C c.1A>G p.M1? Missense 2/5 - 1
12-25398327-G-A c.-9C>T - 5-UTRSNV 2/5 - 6
12-25398972-C-T c.-11-643G>A - IntronicSNV - 1/4 1
12-25398973-G-A c.-11-644C>T - IntronicSNV - 1/4 1
12-25398973-G-C c.-11-644C>G - IntronicSNV - 1/4 1
12-25399121-A-C c.-11-792T>G - IntronicSNV - 1/4 1
12-25400206-G-C c.-11-1877C>G - IntronicSNV - 1/4 1
12-25400206-G-T c.-11-1877C>A - IntronicSNV - 1/4 1
12-25400531-T-A c.-11-2202A>T - IntronicSNV - 1/4 1
12-25400531-T-C c.-11-2202A>G - IntronicSNV - 1/4 1
12-25400962-G-C c.-11-2633C>G - IntronicSNV - 1/4 2
12-25400962-G-T c.-11-2633C>A - IntronicSNV - 1/4 2
12-25400975-C-T c.-11-2646G>A - IntronicSNV - 1/4 1
12-25401032-C-T c.-12+2653G>A - intron_variant - 1/4 1
12-25401033-G-A c.-12+2652C>T - intron_variant - 1/4 1
12-25401041-C-T c.-12+2644G>A - intron_variant - 1/4 1
12-25401042-G-A c.-12+2643C>T - intron_variant - 1/4 1
12-25401701-T-C c.-12+1984A>G - intron_variant - 1/4 3
12-25401822-T-C c.-12+1863A>G - intron_variant - 1/4 1
12-25402253-T-A c.-12+1432A>T - intron_variant - 1/4 1
12-25402253-T-C c.-12+1432A>G - intron_variant - 1/4 1
12-25402255-C-G c.-12+1430G>C - intron_variant - 1/4 1
12-25402387-T-C c.-12+1298A>G - intron_variant - 1/4 1
12-25402598-T-C c.-12+1087A>G - intron_variant - 1/4 1
12-25402666-A-G c.-12+1019T>C - intron_variant - 1/4 1
12-25403356-C-T c.-12+329G>A - intron_variant - 1/4 2
12-25403523-C-A c.-12+162G>T - intron_variant - 1/4 1
12-25403523-C-G c.-12+162G>C - intron_variant - 1/4 1
12-25403523-C-T c.-12+162G>A - intron_variant - 1/4 1
12-25403667-G-A c.-12+18C>T - intron_variant - 1/4 1