KRAS KRAS proto-oncogene, GTPase

Annotation transcript: NM_004985.5

967 unique variant annotations were identified in 2631 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-25358418-T-C c.*4311A>G - 3-UTRSNV 5/5 - 1
12-25358650-A-T c.*4079T>A - 3-UTRSNV 5/5 - 4
12-25358828-T-G c.*3901A>C - 3-UTRSNV 5/5 - 9
12-25358943-T-C c.*3786A>G - 3-UTRSNV 5/5 - 3
12-25358969-T-G c.*3760A>C - 3-UTRSNV 5/5 - 3
12-25359328-A-T c.*3401T>A - 3-UTRSNV 5/5 - 2
12-25359352-G-A c.*3377C>T - 3-UTRSNV 5/5 - 5
12-25359577-C-T c.*3152G>A - 3-UTRSNV 5/5 - 1
12-25359841-T-A c.*2888A>T - 3-UTRSNV 5/5 - 6
12-25359841-T-C c.*2888A>G - 3-UTRSNV 5/5 - 6
12-25359898-A-G c.*2831T>C - 3-UTRSNV 5/5 - 1
12-25359898-A-T c.*2831T>A - 3-UTRSNV 5/5 - 1
12-25360138-T-C c.*2591A>G - 3-UTRSNV 5/5 - 1
12-25360224-A-C c.*2505T>G - 3-UTRSNV 5/5 - 98
12-25361074-G-A c.*1655C>T - 3-UTRSNV 5/5 - 1
12-25361091-T-A c.*1638A>T - 3-UTRSNV 5/5 - 2
12-25361091-T-C c.*1638A>G - 3-UTRSNV 5/5 - 2
12-25361142-A-G c.*1587T>C - 3-UTRSNV 5/5 - 9
12-25361646-T-C c.*1083A>G - 3-UTRSNV 5/5 - 5
12-25361756-C-A c.*973G>T - 3-UTRSNV 5/5 - 1
12-25361905-A-G c.*824T>C - 3-UTRSNV 5/5 - 1
12-25361966-G-T c.*763C>A - 3-UTRSNV 5/5 - 1
12-25362126-T-C c.*603A>G - 3-UTRSNV 5/5 - 1
12-25362217-A-G c.*512T>C - 3-UTRSNV 5/5 - 13
12-25362465-G-A c.*264C>T - 3-UTRSNV 5/5 - 2
12-25362465-G-C c.*264C>G - 3-UTRSNV 5/5 - 2
12-25362552-A-C c.*177T>G - 3-UTRSNV 5/5 - 53
12-25362732-C-T c.564G>A p.M188I Missense 5/5 - 1
12-25362732-CAT-C c.562_563del p.M188Vfs*23 Frameshift 5/5 - 1
12-25362736-A-G c.560T>C p.I187T Missense 5/5 - 2
12-25362736-A-T c.560T>A p.I187N Missense 5/5 - 1
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 - 4
12-25362739-A-G c.557T>C p.V186A Missense 5/5 - 1
12-25362740-C-T c.556G>A p.V186I Missense 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-G c.554G>C p.C185S Missense 5/5 - 14
12-25362743-A-T c.553T>A p.C185S Missense 5/5 - 14
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-C c.550A>G p.K184E Missense 5/5 - 1
12-25362747-TGT-ACA c.547_549inv p.T183C Missense 5/5 - 1
12-25362743-ACTTTGT-A c.547_552del p.T183_K184del InFrameDeletion 5/5 - 1
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 - 2
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 - 1
12-25362751-T-C c.545A>G p.K182R Missense 5/5 - 3
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 - 2
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 - 8
12-25362754-G-A c.542C>T p.S181L Missense 5/5 - 1
12-25362754-GA-TC c.541_542inv p.S181E Missense 5/5 - 5
12-25362755-A-C c.541T>G p.S181A Missense 5/5 - 7
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
12-25362759-C-A c.537G>T p.K179N Missense 5/5 - 1
12-25362759-C-G c.537G>C p.K179N Missense 5/5 - 1
12-25362760-T-C c.536A>G p.K179R Missense 5/5 - 1
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
12-25362759-CTTT-C c.534_536del p.K180del InFrameDeletion 5/5 - 1
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 - 1
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 - 2
12-25362765-C-G c.531G>C p.K177N Missense 5/5 - 2
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 - 4
12-25362769-T-C c.527A>G p.K176R Missense 5/5 - 1
12-25362770-T-G c.526A>C p.K176Q Missense 5/5 - 3
12-25362772-TT-GC c.523_524delinsGC p.K175A Missense 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
12-25362776-C-T c.520G>A p.G174S Missense 5/5 - 1
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 - 16
12-25362777-A-T c.519T>A p.D173E Missense 5/5 - 13
12-25362778-T-C c.518A>G p.D173G Missense 5/5 - 3
12-25362778-TC-GG c.517_518delinsCC p.D173P Missense 5/5 - 2
12-25362779-C-T c.517G>A p.D173N Missense 5/5 - 1
12-25362780-T-C c.516A>G p.K172= Synonymous 5/5 - 1
12-25362781-TT-CC c.514_515delinsGG p.K172G Missense 5/5 - 1
12-25362782-T-A c.514A>T p.K172* Nonsense 5/5 - 1
12-25362784-CT-AA c.511_512delinsTT p.S171F Missense 5/5 - 1
12-25362784-CT-GC c.511_512delinsGC p.S171A Missense 5/5 - 2
12-25362785-T-C c.511A>G p.S171G Missense 5/5 - 1
12-25362787-AT-CC c.508_509delinsGG p.M170G Missense 5/5 - 1
12-25362789-C-A c.507G>T p.K169N Missense 5/5 - 1
12-25362789-C-G c.507G>C p.K169N Missense 5/5 - 1
12-25362789-CTT-ACA c.505_507delinsTGT p.K169C Missense 5/5 - 1
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 - 1
12-25362793-TC-CT c.502_503delinsAG p.E168R Missense 5/5 - 3
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
12-25362800-G-A c.496C>T p.H166Y Missense 5/5 - 1
12-25362802-TT-GC c.493_494delinsGC p.K165A Missense 5/5 - 1
12-25362803-T-C c.493A>G p.K165E Missense 5/5 - 2
12-25362803-T-G c.493A>C p.K165Q Missense 5/5 - 2
12-25362805-C-T c.491G>A p.R164Q Missense 5/5 - 14
12-25362806-G-C c.490C>G p.R164G Missense 5/5 - 1
12-25362809-T-C c.487A>G p.I163V Missense 5/5 - 1
12-25362814-CG-AT c.481_482delinsAT p.R161I Missense 5/5 - 1
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 - 5
12-25362813-T-A c.483A>T p.R161= Synonymous 5/5 - 2
12-25362813-T-C c.483A>G p.R161= Synonymous 5/5 - 2
12-25362813-T-G c.483A>C p.R161= Synonymous 5/5 - 2
12-25362815-G-A c.481C>T p.R161* Nonsense 5/5 - 2
12-25362815-G-T c.481C>A p.R161= Synonymous 5/5 - 2
12-25362816-AAC-CAT c.478_480delinsATG p.V160M Missense 5/5 - 2
12-25362817-A-G c.479T>C p.V160A Missense 5/5 - 1
12-25362818-C-T c.478G>A p.V160I Missense 5/5 - 1
12-25362823-G-A c.473C>T p.T158I Missense 5/5 - 2
12-25362824-T-A c.472A>T p.T158S Missense 5/5 - 1
12-25362824-T-G c.472A>C p.T158P Missense 5/5 - 1
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 - 1
12-25362826-T-G c.470A>C p.Y157S 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 - 23
12-25362828-G-T c.468C>A p.F156L Missense 5/5 - 10
12-25362830-A-C c.466T>G p.F156V Missense 5/5 - 3
12-25362830-A-G c.466T>C p.F156L Missense 5/5 - 20
12-25362830-A-T c.466T>A p.F156I Missense 5/5 - 8
12-25362832-G-A c.464C>T p.A155V Missense 5/5 - 1
12-25362832-G-C c.464C>G p.A155G Missense 5/5 - 1
12-25362834-ATC-TTG c.460_462delinsCAA p.D154Q Missense 5/5 - 14
12-25362835-T-C c.461A>G p.D154G Missense 5/5 - 2
12-25362836-C-A c.460G>T p.D154Y Missense 5/5 - 1
12-25362836-C-T c.460G>A p.D154N Missense 5/5 - 1
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 - 1
12-25362838-T-A c.458A>T p.D153V Missense 5/5 - 27
12-25362838-T-C c.458A>G p.D153G Missense 5/5 - 1
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
12-25362838-TCAA-T c.455_457del p.V152del InFrameDeletion 5/5 - 1
12-25362841-A-C c.455T>G p.V152G Missense 5/5 - 10
12-25362841-A-G c.455T>C p.V152A Missense 5/5 - 1
12-25362842-C-A c.454G>T p.V152F 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 - 1
12-25362854-C-T c.451-9G>A - IntronicSNV - 4/4 5
12-25365112-C-G c.451-2267G>C - IntronicSNV - 4/4 1
12-25365223-A-G c.451-2378T>C - IntronicSNV - 4/4 2
12-25366805-G-A c.451-3960C>T - IntronicSNV - 4/4 3
12-25367611-C-T c.451-4766G>A - IntronicSNV - 4/4 1
12-25367669-G-A c.451-4824C>T - IntronicSNV - 4/4 1
12-25368084-T-A c.451-5239A>T - IntronicSNV - 4/4 1
12-25368084-T-C c.451-5239A>G - IntronicSNV - 4/4 1
12-25368380-T-G c.451-5535A>C - IntronicSNV - 4/4 1
12-25368383-T-C c.451-5538A>G - IntronicSNV - 4/4 1
12-25368386-T-C c.451-5541A>G - 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 1
12-25368401-T-C c.451-5556A>G - IntronicSNV - 4/4 1
12-25368410-C-T c.451-5565G>A - IntronicSNV - 4/4 1
12-25368413-G-A c.451-5568C>T - IntronicSNV - 4/4 1
12-25368425-C-T c.451-5580G>A - IntronicSNV - 4/4 2
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 1
12-25368449-A-T c.451-5604T>A - IntronicSNV - 4/4 1
12-25368451-T-C c.451-5606A>G - IntronicSNV - 4/4 1
12-25368462-C-T c.451-5617G>A - IntronicSNV - 4/4 6
12-25368466-A-G c.451-5621T>C - IntronicSNV - 4/4 1
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
12-25369617-A-G c.451-6772T>C - IntronicSNV - 4/4 1
12-25371462-C-T c.450+7086G>A - IntronicSNV - 4/4 1
12-25375799-C-A c.450+2749G>T - IntronicSNV - 4/4 3
12-25375799-C-T c.450+2749G>A - IntronicSNV - 4/4 3
12-25376329-A-G c.450+2219T>C - IntronicSNV - 4/4 1
12-25378456-T-C c.450+92A>G - IntronicSNV - 4/4 1
12-25378464-T-C c.450+84A>G - IntronicSNV - 4/4 1
12-25378482-T-C c.450+66A>G - IntronicSNV - 4/4 1
12-25378549-T-C c.449A>G p.Q150R Missense 4/5 - 1
12-25378550-G-A c.448C>T p.Q150* Nonsense 4/5 - 1
12-25378551-TCT-CCA c.445_447delinsTGG p.R149W Missense 4/5 - 1
12-25378551-TCT-GTC c.445_447delinsGAC p.R149D Missense 4/5 - 1
12-25378552-C-A c.446G>T p.R149I Missense 4/5 - 1
12-25378552-C-T c.446G>A p.R149K Missense 4/5 - 1
12-25378553-T-C c.445A>G p.R149G Missense 4/5 - 5
12-25378554-T-C c.444A>G p.T148= Synonymous 4/5 - 1
12-25378555-GT-TC c.442_443delinsGA p.T148E Missense 4/5 - 1
12-25378556-T-C c.442A>G p.T148A Missense 4/5 - 2
12-25378557-C-A c.441G>T p.K147N Missense 4/5 - 1
12-25378557-C-G c.441G>C p.K147N Missense 4/5 - 1
12-25378557-C-T c.441G>A p.K147= Synonymous 4/5 - 1
12-25378557-CTT-GTC c.439_441delinsGAC p.K147D Missense 4/5 - 1
12-25378558-T-C c.440A>G p.K147R Missense 4/5 - 4
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 - 1
12-25378559-T-C c.439A>G p.K147E Missense 4/5 - 11
12-25378559-T-G c.439A>C p.K147Q Missense 4/5 - 1
12-25378560-T-A c.438A>T p.A146= Synonymous 4/5 - 1
12-25378560-T-C c.438A>G p.A146= Synonymous 4/5 - 2
12-25378560-T-G c.438A>C p.A146= Synonymous 4/5 - 2
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 - 1
12-25378561-G-A c.437C>T p.A146V Missense 4/5 - 163
12-25378561-G-C c.437C>G p.A146G Missense 4/5 - 6
12-25378561-GC-TA c.436_437delinsTA p.A146* Nonsense 4/5 - 6
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 - 5
12-25378562-C-A c.436G>T p.A146S Missense 4/5 - 14
12-25378562-C-G c.436G>C p.A146P Missense 4/5 - 80
12-25378562-C-T c.436G>A p.A146T Missense 4/5 - 402
12-25378562-C-CT c.435dup p.A146Sfs*8 Frameshift 4/5 - 1
12-25378564-G-A c.434C>T p.S145L Missense 4/5 - 1
12-25378565-A-C c.433T>G p.S145A Missense 4/5 - 2
12-25378566-T-G c.432A>C p.T144= Synonymous 4/5 - 1
12-25378566-TG-GT c.431_432delinsAC p.T144N Missense 4/5 - 1
12-25378567-G-A c.431C>T p.T144I 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 - 1
12-25378569-T-C c.429A>G p.E143= Synonymous 4/5 - 1
12-25378571-C-T c.427G>A p.E143K Missense 4/5 - 2
12-25378573-A-G c.425T>C p.I142T Missense 4/5 - 1
12-25378575-A-G c.423T>C p.F141= Synonymous 4/5 - 1
12-25378576-AA-GC c.421_422delinsGC p.F141A Missense 4/5 - 1
12-25378575-A-T c.423T>A p.F141L Missense 4/5 - 3
12-25378578-A-T c.420T>A p.P140= Synonymous 4/5 - 1
12-25378579-G-A c.419C>T p.P140L Missense 4/5 - 1
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 - 3
12-25378580-G-A c.418C>T p.P140S Missense 4/5 - 1
12-25378582-A-T c.416T>A p.I139N Missense 4/5 - 1
12-25378584-T-A c.414A>T p.G138= Synonymous 4/5 - 1
12-25378584-T-C c.414A>G p.G138= Synonymous 4/5 - 2
12-25378584-T-G c.414A>C p.G138= Synonymous 4/5 - 1
12-25378585-C-G c.413G>C p.G138A Missense 4/5 - 1
12-25378585-C-T c.413G>A p.G138E Missense 4/5 - 4
12-25378586-C-G c.412G>C p.G138R Missense 4/5 - 2
12-25378586-C-T c.412G>A p.G138R Missense 4/5 - 1
12-25378588-T-C c.410A>G p.Y137C Missense 4/5 - 1
12-25378589-A-G c.409T>C p.Y137H Missense 4/5 - 1
12-25378591-ACTTCTTGCTAAGTCCT-A c.392_407del p.Q131Lfs*24 Frameshift 4/5 - 1
12-25378591-C-T c.407G>A p.S136N Missense 4/5 - 2
12-25378593-T-C c.405A>G p.R135= Synonymous 4/5 - 1
12-25378594-C-A c.404G>T p.R135I Missense 4/5 - 2
12-25378594-C-G c.404G>C p.R135T Missense 4/5 - 2
12-25378594-C-T c.404G>A p.R135K Missense 4/5 - 4
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 - 3
12-25378595-T-C c.403A>G p.R135G Missense 4/5 - 1
12-25378597-G-A c.401C>T p.A134V Missense 4/5 - 2
12-25378597-G-C c.401C>G p.A134G Missense 4/5 - 1
12-25378598-C-A c.400G>T p.A134S Missense 4/5 - 1
12-25378598-C-T c.400G>A p.A134T Missense 4/5 - 4
12-25378600-AA-TG c.397_398delinsCA p.L133Q Missense 4/5 - 1
12-25378602-G-C c.396C>G p.D132E Missense 4/5 - 4
12-25378602-G-T c.396C>A p.D132E Missense 4/5 - 3
12-25378603-T-C c.395A>G p.D132G Missense 4/5 - 2
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-T c.394G>A p.D132N Missense 4/5 - 2
12-25378605-C-A c.393G>T p.Q131H Missense 4/5 - 2
12-25378605-C-G c.393G>C p.Q131H Missense 4/5 - 2
12-25378605-C-T c.393G>A p.Q131= Synonymous 4/5 - 1
12-25378606-T-C c.392A>G p.Q131R Missense 4/5 - 1
12-25378609-G-A c.389C>T p.A130V Missense 4/5 - 3
12-25378610-C-A c.388G>T p.A130S Missense 4/5 - 1
12-25378610-C-T c.388G>A p.A130T Missense 4/5 - 2
12-25378611-C-T c.387G>A p.Q129= Synonymous 4/5 - 1
12-25378612-T-A c.386A>T p.Q129L Missense 4/5 - 1
12-25378614-TTT-GTC c.382_384delinsGAC p.K128D Missense 4/5 - 1
12-25378613-GTTT-G c.382_384del p.K128del InFrameDeletion 4/5 - 1
12-25378615-T-C c.383A>G p.K128R Missense 4/5 - 3
12-25378616-T-C c.382A>G p.K128E Missense 4/5 - 2
12-25378613-G-GT c.384dup p.Q129Tfs*15 Frameshift 4/5 - 1
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 - 1
12-25378618-G-C c.380C>G p.T127R Missense 4/5 - 1
12-25378620-G-C c.378C>G p.D126E Missense 4/5 - 2
12-25378620-G-T c.378C>A p.D126E Missense 4/5 - 2
12-25378622-C-G c.376G>C p.D126H Missense 4/5 - 1
12-25378622-C-T c.376G>A p.D126N Missense 4/5 - 2
12-25378624-A-G c.374T>C p.V125A Missense 4/5 - 1
12-25378625-C-T c.373G>A p.V125I Missense 4/5 - 1
12-25378627-G-A c.371C>T p.T124I Missense 4/5 - 1
12-25378628-T-A c.370A>T p.T124S Missense 4/5 - 1
12-25378628-T-C c.370A>G p.T124A Missense 4/5 - 2
12-25378629-T-A c.369A>T p.R123S Missense 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 - 1
12-25378629-TCT-CCA c.367_369delinsTGG p.R123W Missense 4/5 - 1
12-25378629-T-G c.369A>C p.R123S Missense 4/5 - 1
12-25378630-C-A c.368G>T p.R123I Missense 4/5 - 1
12-25378630-C-T c.368G>A p.R123K Missense 4/5 - 1
12-25378631-T-C c.367A>G p.R123G Missense 4/5 - 1
12-25378634-A-C c.364T>G p.S122A Missense 4/5 - 2
12-25378635-A-G c.363T>C p.P121= Synonymous 4/5 - 1
12-25378636-G-T c.362C>A p.P121H Missense 4/5 - 9
12-25378637-G-A c.361C>T p.P121S Missense 4/5 - 1
12-25378637-G-C c.361C>G p.P121A Missense 4/5 - 1
12-25378638-CA-AC c.359_360delinsGT p.L120C Missense 4/5 - 3
12-25378639-A-G c.359T>C p.L120S Missense 4/5 - 1
12-25378640-A-T c.358T>A p.L120M Missense 4/5 - 1
12-25378641-A-G c.357T>C p.D119= Synonymous 4/5 - 1
12-25378642-T-C c.356A>G p.D119G Missense 4/5 - 2
12-25378642-T-G c.356A>C p.D119A Missense 4/5 - 1
12-25378643-C-A c.355G>T p.D119Y Missense 4/5 - 1
12-25378643-C-G c.355G>C p.D119H Missense 4/5 - 3
12-25378643-C-T c.355G>A p.D119N Missense 4/5 - 11
12-25378644-A-G c.354T>C p.C118= Synonymous 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 - 7
12-25378645-C-T c.353G>A p.C118Y Missense 4/5 - 2
12-25378645-C-G c.353G>C p.C118S Missense 4/5 - 34
12-25378646-A-T c.352T>A p.C118S Missense 4/5 - 33
12-25378647-T-A c.351A>T p.K117N Missense 4/5 - 127
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 - 138
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-C c.350A>G p.K117R Missense 4/5 - 19
12-25378648-T-G c.350A>C p.K117T Missense 4/5 - 1
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 - 2
12-25378649-T-C c.349A>G p.K117E Missense 4/5 - 5
12-25378649-T-G c.349A>C p.K117Q Missense 4/5 - 1
12-25378651-T-C c.347A>G p.N116S Missense 4/5 - 4
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-G c.346A>C p.N116H Missense 4/5 - 9
12-25378653-T-C c.345A>G p.G115= Synonymous 4/5 - 1
12-25378654-C-A c.344G>T p.G115V Missense 4/5 - 2
12-25378654-C-T c.344G>A p.G115E Missense 4/5 - 3
12-25378655-C-A c.343G>T p.G115* Nonsense 4/5 - 1
12-25378655-C-G c.343G>C p.G115R Missense 4/5 - 1
12-25378655-C-T c.343G>A p.G115R Missense 4/5 - 1
12-25378657-A-G c.341T>C p.V114A Missense 4/5 - 1
12-25378658-C-A c.340G>T p.V114L Missense 4/5 - 1
12-25378658-C-G c.340G>C p.V114L Missense 4/5 - 1
12-25378659-TAG-GTC c.337_339delinsGAC p.L113D Missense 4/5 - 1
12-25378662-G-A c.336C>T p.V112= Synonymous 4/5 - 1
12-25378664-C-T c.334G>A p.V112I Missense 4/5 - 1
12-25378668-A-C c.330T>G p.P110= Synonymous 4/5 - 1
12-25378668-A-G c.330T>C p.P110= Synonymous 4/5 - 1
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 - 1
12-25378669-GG-CC c.328_329inv p.P110G Missense 4/5 - 2
12-25378669-GG-TC c.328_329delinsGA p.P110D Missense 4/5 - 2
12-25378669-G-T c.329C>A p.P110H Missense 4/5 - 2
12-25378670-G-A c.328C>T p.P110S Missense 4/5 - 4
12-25378670-G-C c.328C>G p.P110A Missense 4/5 - 44
12-25378671-TAC-ACA c.325_327delinsTGT p.V109C Missense 4/5 - 8
12-25378671-T-C c.327A>G p.V109= Synonymous 4/5 - 1
12-25378672-A-C c.326T>G p.V109G Missense 4/5 - 2
12-25378672-A-T c.326T>A p.V109E Missense 4/5 - 1
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 - 1
12-25378676-C-T c.322G>A p.D108N Missense 4/5 - 1
12-25378677-T-A c.321A>T p.E107D Missense 4/5 - 2
12-25378677-T-G c.321A>C p.E107D Missense 4/5 - 1
12-25378678-T-G c.320A>C p.E107A Missense 4/5 - 1
12-25378679-C-T c.319G>A p.E107K Missense 4/5 - 6
12-25378681-G-C c.317C>G p.S106C Missense 4/5 - 2
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
12-25378686-C-A c.312G>T p.K104N Missense 4/5 - 1
12-25378686-C-G c.312G>C p.K104N Missense 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 - 1
12-25378687-T-C c.311A>G p.K104R Missense 4/5 - 2
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 - 1
12-25378688-T-C c.310A>G p.K104E Missense 4/5 - 1
12-25378688-T-G c.310A>C p.K104Q Missense 4/5 - 9
12-25378689-A-C c.309T>G p.V103= Synonymous 4/5 - 2
12-25378689-A-T c.309T>A p.V103= Synonymous 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 - 1
12-25378691-C-T c.307G>A p.V103I Missense 4/5 - 1
12-25378692-T-A c.306A>T p.R102S Missense 4/5 - 1
12-25378692-TCT-ACA c.304_306delinsTGT p.R102C Missense 4/5 - 1
12-25378692-T-G c.306A>C p.R102S 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 - 1
12-25378693-CT-AG c.304_305inv p.R102L Missense 4/5 - 1
12-25378693-CT-TC c.304_305delinsGA p.R102E Missense 4/5 - 1
12-25378694-T-A c.304A>T p.R102* Nonsense 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-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
12-25378700-T-A c.298A>T p.I100F Missense 4/5 - 1
12-25378701-TTG-AAA c.295_297delinsTTT p.Q99F Missense 4/5 - 1
12-25378701-TTG-CCA c.295_297delinsTGG p.Q99W Missense 4/5 - 1
12-25378702-T-A c.296A>T p.Q99L Missense 4/5 - 8
12-25378702-T-C c.296A>G p.Q99R Missense 4/5 - 1
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 - 1
12-25378703-G-T c.295C>A p.Q99K Missense 4/5 - 1
12-25378706-C-T c.292G>A p.E98K Missense 4/5 - 2
12-25380071-T-A c.290+97A>T - IntronicSNV - 3/4 1
12-25380071-T-G c.290+97A>C - IntronicSNV - 3/4 1
12-25380094-A-C c.290+74T>G - IntronicSNV - 3/4 1
12-25380097-A-G c.290+71T>C - IntronicSNV - 3/4 1
12-25380168-C-T c.290G>A p.R97K Missense 3/5 - 2
12-25380169-T-C c.289A>G p.R97G Missense 3/5 - 1
12-25380170-A-C c.288T>G p.Y96* Nonsense 3/5 - 1
12-25380170-A-T c.288T>A p.Y96* Nonsense 3/5 - 1
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 - 20
12-25380171-T-G c.287A>C p.Y96S Missense 3/5 - 5
12-25380172-A-C c.286T>G p.Y96D Missense 3/5 - 20
12-25380172-A-G c.286T>C p.Y96H Missense 3/5 - 2
12-25380172-A-T c.286T>A p.Y96N Missense 3/5 - 1
12-25380173-A-C c.285T>G p.H95Q Missense 3/5 - 8
12-25380173-A-T c.285T>A p.H95Q Missense 3/5 - 8
12-25380173-ATG-CTT c.283_285delinsAAG p.H95K Missense 3/5 - 1
12-25380174-T-A c.284A>T p.H95L Missense 3/5 - 3
12-25380174-T-C c.284A>G p.H95R Missense 3/5 - 9
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-C c.283C>G p.H95D Missense 3/5 - 22
12-25380175-G-T c.283C>A p.H95N Missense 3/5 - 3
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
12-25380179-A-C c.279T>G p.I93M 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 - 1
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 - 1
12-25380184-C-G c.274G>C p.D92H Missense 3/5 - 2
12-25380184-C-T c.274G>A p.D92N Missense 3/5 - 1
12-25380186-T-C c.272A>G p.E91G Missense 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
12-25380192-G-A c.266C>T p.S89L Missense 3/5 - 2
12-25380193-A-C c.265T>G p.S89A Missense 3/5 - 5
12-25380193-A-G c.265T>C p.S89P Missense 3/5 - 1
12-25380194-T-G c.264A>C p.K88N Missense 3/5 - 1
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
12-25380196-T-C c.262A>G p.K88E Missense 3/5 - 2
12-25380200-ATT-CTC c.256_258delinsGAG p.N86E 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
12-25380204-T-C c.254A>G p.N85S Missense 3/5 - 2
12-25380205-T-G c.253A>C p.N85H Missense 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 - 1
12-25380211-C-G c.247G>C p.A83P Missense 3/5 - 1
12-25380212-A-G c.246T>C p.F82= Synonymous 3/5 - 1
12-25380212-A-C c.246T>G p.F82L Missense 3/5 - 1
12-25380212-A-T c.246T>A p.F82L Missense 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 - 1
12-25380219-C-A c.239G>T p.C80F Missense 3/5 - 1
12-25380219-CA-AG c.238_239delinsCT p.C80L Missense 3/5 - 4
12-25380219-CA-GC c.238_239delinsGC p.C80A Missense 3/5 - 1
12-25380219-CA-TC c.238_239delinsGA p.C80D Missense 3/5 - 1
12-25380220-A-G c.238T>C p.C80R Missense 3/5 - 1
12-25380222-A-G c.236T>C p.L79P Missense 3/5 - 1
12-25380224-A-G c.234T>C p.F78= Synonymous 3/5 - 1
12-25380225-AA-TC c.232_233delinsGA p.F78D Missense 3/5 - 1
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
12-25380227-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 - 1
12-25380228-C-G c.230G>C p.G77A Missense 3/5 - 1
12-25380229-C-A c.229G>T p.G77C Missense 3/5 - 1
12-25380229-C-G c.229G>C p.G77R Missense 3/5 - 2
12-25380230-C-A c.228G>T p.E76D Missense 3/5 - 1
12-25380230-C-G c.228G>C p.E76D Missense 3/5 - 2
12-25380231-T-C c.227A>G p.E76G Missense 3/5 - 2
12-25380231-T-G c.227A>C p.E76A Missense 3/5 - 1
12-25380232-C-T c.226G>A p.E76K Missense 3/5 - 3
12-25380234-C-G c.224G>C p.G75A Missense 3/5 - 1
12-25380235-C-T c.223G>A p.G75R Missense 3/5 - 1
12-25380237-AG-A c.221del p.T74Mfs*11 Frameshift 3/5 - 1
12-25380237-G-C c.221C>G p.T74S Missense 3/5 - 1
12-25380238-T-C c.220A>G p.T74A Missense 3/5 - 1
12-25380238-T-G c.220A>C p.T74P Missense 3/5 - 6
12-25380239-C-T c.219G>A p.R73= Synonymous 3/5 - 2
12-25380241-T-G c.217A>C p.R73= Synonymous 3/5 - 1
12-25380240-C-A c.218G>T p.R73M Missense 3/5 - 1
12-25380240-C-T c.218G>A p.R73K Missense 3/5 - 2
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
12-25380242-C-A c.216G>T p.M72I Missense 3/5 - 3
12-25380242-CAT-ACA c.214_216delinsTGT p.M72C Missense 3/5 - 4
12-25380242-C-G c.216G>C p.M72I Missense 3/5 - 3
12-25380242-C-T c.216G>A p.M72I Missense 3/5 - 4
12-25380243-A-G c.215T>C p.M72T Missense 3/5 - 1
12-25380244-T-A c.214A>T p.M72L Missense 3/5 - 1
12-25380244-T-C c.214A>G p.M72V Missense 3/5 - 2
12-25380246-TA-GC c.211_212delinsGC p.Y71A Missense 3/5 - 1
12-25380247-A-C c.211T>G p.Y71D Missense 3/5 - 3
12-25380247-A-G c.211T>C p.Y71H Missense 3/5 - 4
12-25380248-C-T c.210G>A p.Q70= Synonymous 3/5 - 1
12-25380249-T-G c.209A>C p.Q70P Missense 3/5 - 1
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 - 1
12-25380253-C-A c.205G>T p.D69Y Missense 3/5 - 2
12-25380253-C-T c.205G>A p.D69N Missense 3/5 - 1
12-25380254-C-A c.204G>T p.R68S Missense 3/5 - 24
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 - 24
12-25380252-TC-T c.205del p.D69Tfs*4 Frameshift 3/5 - 1
12-25380255-C-A c.203G>T p.R68M Missense 3/5 - 11
12-25380255-CT-AG c.202_203inv p.R68L Missense 3/5 - 1
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
12-25380257-CAT-ACA c.199_201delinsTGT p.M67C Missense 3/5 - 1
12-25380257-C-T c.201G>A p.M67I Missense 3/5 - 1
12-25380259-T-A c.199A>T p.M67L Missense 3/5 - 1
12-25380259-T-G c.199A>C p.M67L Missense 3/5 - 1
12-25380260-T-A c.198A>T p.A66= Synonymous 3/5 - 3
12-25380260-T-C c.198A>G p.A66= Synonymous 3/5 - 4
12-25380260-T-G c.198A>C p.A66= Synonymous 3/5 - 3
12-25380260-TGC-AAA c.196_198delinsTTT p.A66F Missense 3/5 - 1
12-25380260-TGC-ACA c.196_198delinsTGT p.A66C Missense 3/5 - 4
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-C c.197C>G p.A66G Missense 3/5 - 1
12-25380261-GC-AT c.196_197delinsAT p.A66I Missense 3/5 - 1
12-25380261-G-T c.197C>A p.A66E Missense 3/5 - 1
12-25380262-C-G c.196G>C p.A66P Missense 3/5 - 1
12-25380262-C-T c.196G>A p.A66T Missense 3/5 - 1
12-25380263-ACT-CCA c.193_195delinsTGG p.S65W Missense 3/5 - 1
12-25380264-ACTGTACTCC-A c.186_194del p.E62_S65delinsD MultiAAMissense 3/5 - 1
12-25380264-C-A c.194G>T p.S65I Missense 3/5 - 4
12-25380264-C-T c.194G>A p.S65N Missense 3/5 - 5
12-25380264-CT-GC c.193_194delinsGC p.S65A Missense 3/5 - 1
12-25380265-T-C c.193A>G p.S65G Missense 3/5 - 1
12-25380265-T-G c.193A>C p.S65R Missense 3/5 - 1
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 - 2
12-25380267-TA-GC c.190_191delinsGC p.Y64A Missense 3/5 - 10
12-25380267-T-C c.191A>G p.Y64C Missense 3/5 - 1
12-25380268-A-C c.190T>G p.Y64D Missense 3/5 - 4
12-25380268-A-G c.190T>C p.Y64H Missense 3/5 - 4
12-25380268-A-T c.190T>A p.Y64N Missense 3/5 - 4
12-25380269-C-A c.189G>T p.E63D Missense 3/5 - 2
12-25380269-C-G c.189G>C p.E63D Missense 3/5 - 1
12-25380269-C-T c.189G>A p.E63= Synonymous 3/5 - 2
12-25380269-CTC-ATG c.187_189delinsCAT p.E63H Missense 3/5 - 1
12-25380270-T-C c.188A>G p.E63G Missense 3/5 - 2
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-T c.187G>A p.E63K Missense 3/5 - 29
12-25380268-ACTC-A c.187_189del p.E63del InFrameDeletion 3/5 - 2
12-25380272-C-A c.186G>T p.E62D Missense 3/5 - 2
12-25380272-C-G c.186G>C p.E62D Missense 3/5 - 1
12-25380272-C-T c.186G>A p.E62= Synonymous 3/5 - 3
12-25380272-CTC-ACA c.184_186delinsTGT p.E62C Missense 3/5 - 1
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 - 1
12-25380274-C-A c.184G>T p.E62* Nonsense 3/5 - 1
12-25380274-C-T c.184G>A p.E62K Missense 3/5 - 7
12-25380275-T-A c.183A>T p.Q61H Missense 3/5 - 698
12-25380275-T-G c.183A>C p.Q61H Missense 3/5 - 748
12-25380275-TTG-ACA c.181_183delinsTGT p.Q61C Missense 3/5 - 1
12-25380275-TTG-GTC c.181_183delinsGAC p.Q61D Missense 3/5 - 1
12-25380275-TTG-GTT c.181_183delinsAAC p.Q61N Missense 3/5 - 1
12-25380276-T-A c.182A>T p.Q61L Missense 3/5 - 336
12-25380276-T-C c.182A>G p.Q61R Missense 3/5 - 299
12-25380276-T-G c.182A>C p.Q61P Missense 3/5 - 34
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 - 3
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 - 25
12-25380277-G-C c.181C>G p.Q61E Missense 3/5 - 33
12-25380277-G-T c.181C>A p.Q61K Missense 3/5 - 207
12-25380278-A-C c.180T>G p.G60= Synonymous 3/5 - 2
12-25380278-A-G c.180T>C p.G60= Synonymous 3/5 - 2
12-25380278-A-T c.180T>A p.G60= Synonymous 3/5 - 4
12-25380279-C-A c.179G>T p.G60V Missense 3/5 - 16
12-25380279-C-G c.179G>C p.G60A Missense 3/5 - 4
12-25380279-C-T c.179G>A p.G60D Missense 3/5 - 18
12-25380280-C-G c.178G>C p.G60R Missense 3/5 - 21
12-25380280-C-T c.178G>A p.G60S Missense 3/5 - 8
12-25380280-C-CT c.177dup p.G60Rfs*27 Frameshift 3/5 - 1
12-25380281-TGC-AAA c.175_177delinsTTT p.A59F Missense 3/5 - 1
12-25380281-TGC-ACA c.175_177delinsTGT p.A59C Missense 3/5 - 1
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 - 4
12-25380282-G-A c.176C>T p.A59V Missense 3/5 - 6
12-25380282-G-C c.176C>G p.A59G Missense 3/5 - 52
12-25380282-GC-AT c.175_176delinsAT p.A59I Missense 3/5 - 1
12-25380282-GC-TA c.175_176delinsTA p.A59* Nonsense 3/5 - 2
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 - 1
12-25380282-G-T c.176C>A p.A59E Missense 3/5 - 40
12-25380279-CCTG-C c.176_178del p.A59del InFrameDeletion 3/5 - 6
12-25380283-C-A c.175G>T p.A59S Missense 3/5 - 11
12-25380283-C-T c.175G>A p.A59T Missense 3/5 - 95
12-25380284-T-A c.174A>T p.T58= Synonymous 3/5 - 1
12-25380284-T-C c.174A>G p.T58= Synonymous 3/5 - 1
12-25380284-T-G c.174A>C p.T58= Synonymous 3/5 - 1
12-25380285-G-A c.173C>T p.T58I Missense 3/5 - 61
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-C c.172A>G p.T58A Missense 3/5 - 24
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 - 6
12-25380297-TC-CG c.160_161delinsCG p.D54R Missense 3/5 - 1
12-25380298-C-A c.160G>T p.D54Y Missense 3/5 - 4
12-25380298-C-T c.160G>A p.D54N Missense 3/5 - 1
12-25380299-C-A c.159G>T p.L53F Missense 3/5 - 1
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
12-25380301-A-G c.157T>C p.L53= Synonymous 3/5 - 1
12-25380302-GAG-TTA c.154_156delinsTAA p.L52* Nonsense 3/5 - 1
12-25380303-AG-GC c.154_155delinsGC p.L52A Missense 3/5 - 1
12-25380305-A-G c.153T>C p.C51= Synonymous 3/5 - 1
12-25380306-C-A c.152G>T p.C51F Missense 3/5 - 1
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 - 1
12-25380306-C-G c.152G>C p.C51S Missense 3/5 - 6
12-25380307-A-G c.151T>C p.C51R Missense 3/5 - 1
12-25380307-A-T c.151T>A p.C51S Missense 3/5 - 6
12-25380309-G-A c.149C>T p.T50I Missense 3/5 - 9
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 - 2
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 - 1
12-25380312-T-A c.146A>T p.E49V Missense 3/5 - 1
12-25380312-T-G c.146A>C p.E49A Missense 3/5 - 2
12-25380313-C-G c.145G>C p.E49Q Missense 3/5 - 1
12-25380313-C-T c.145G>A p.E49K Missense 3/5 - 8
12-25380315-C-G c.143G>C p.G48A Missense 3/5 - 1
12-25380315-C-T c.143G>A p.G48E Missense 3/5 - 1
12-25380316-C-G c.142G>C p.G48R Missense 3/5 - 1
12-25380316-C-T c.142G>A p.G48R Missense 3/5 - 1
12-25380317-A-C c.141T>G p.D47E Missense 3/5 - 1
12-25380317-A-T c.141T>A p.D47E Missense 3/5 - 1
12-25380317-ATC-CTT c.139_141delinsAAG p.D47K Missense 3/5 - 1
12-25380318-T-C c.140A>G p.D47G Missense 3/5 - 1
12-25380318-TC-AA c.139_140delinsTT p.D47F Missense 3/5 - 1
12-25380318-T-G c.140A>C p.D47A Missense 3/5 - 3
12-25380319-C-A c.139G>T p.D47Y Missense 3/5 - 1
12-25380319-C-T c.139G>A p.D47N Missense 3/5 - 1
12-25380320-A-C c.138T>G p.I46M Missense 3/5 - 1
12-25380320-A-G c.138T>C p.I46= Synonymous 3/5 - 1
12-25380320-A-T c.138T>A p.I46= Synonymous 3/5 - 1
12-25380321-A-G c.137T>C p.I46T Missense 3/5 - 1
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 - 1
12-25380324-A-T c.134T>A p.V45E Missense 3/5 - 4
12-25380326-TAC-CAT c.130_132delinsATG p.V44M Missense 3/5 - 1
12-25380328-C-T c.130G>A p.V44I 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 - 1
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 - 1
12-25380332-C-T c.126G>A p.K42= Synonymous 3/5 - 1
12-25380332-CT-GA c.125_126delinsTC p.K42I Missense 3/5 - 1
12-25380332-CTT-GTC c.124_126delinsGAC p.K42D Missense 3/5 - 1
12-25380333-TT-GC c.124_125delinsGC p.K42A Missense 3/5 - 1
12-25380335-CC-GA c.122_123delinsTC p.R41I Missense 3/5 - 1
12-25380336-C-A c.122G>T p.R41M Missense 3/5 - 1
12-25380336-CT-GC c.121_122delinsGC p.R41A Missense 3/5 - 1
12-25380336-CT-TC c.121_122delinsGA p.R41E Missense 3/5 - 1
12-25380336-CT-TG c.121_122delinsCA p.R41Q Missense 3/5 - 1
12-25380337-T-C c.121A>G p.R41G Missense 3/5 - 2
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 - 11
12-25380339-T-C c.119A>G p.Y40C Missense 3/5 - 12
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 - 1
12-25380341-G-C c.117C>G p.S39= Synonymous 3/5 - 1
12-25380341-G-T c.117C>A p.S39= Synonymous 3/5 - 1
12-25380342-G-A c.116C>T p.S39F Missense 3/5 - 1
12-25380342-G-C c.116C>G p.S39C Missense 3/5 - 1
12-25380342-G-T c.116C>A p.S39Y Missense 3/5 - 1
12-25380344-A-C c.114T>G p.D38E Missense 3/5 - 4
12-25380344-A-G c.114T>C p.D38= Synonymous 3/5 - 2
12-25380344-A-T c.114T>A p.D38E Missense 3/5 - 4
12-25380344-ATC-CTT c.112_114delinsAAG p.D38K Missense 3/5 - 1
12-25380345-T-C c.113A>G p.D38G Missense 3/5 - 1
12-25380345-T-G c.113A>C p.D38A Missense 3/5 - 4
12-25380346-C-A c.112G>T p.D38Y Missense 3/5 - 1
12-25380346-C-T c.112G>A p.D38N Missense 3/5 - 1
12-25382186-T-G c.112-1840A>C - IntronicSNV - 2/4 3
12-25383813-A-G c.112-3467T>C - 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 1
12-25385910-T-C c.112-5564A>G - IntronicSNV - 2/4 2
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 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 2
12-25393865-A-C c.111+4343T>G - IntronicSNV - 2/4 3
12-25394779-C-T c.111+3429G>A - IntronicSNV - 2/4 4
12-25396576-C-T c.111+1632G>A - IntronicSNV - 2/4 3
12-25398208-C-A c.111G>T p.E37D Missense 2/5 - 1
12-25398208-C-G c.111G>C p.E37D Missense 2/5 - 1
12-25398209-T-C c.110A>G p.E37G Missense 2/5 - 10
12-25398209-T-G c.110A>C p.E37A Missense 2/5 - 1
12-25398210-C-T c.109G>A p.E37K Missense 2/5 - 9
12-25398211-TA-GT c.107_108delinsAC p.I36N Missense 2/5 - 1
12-25398211-T-C c.108A>G p.I36M Missense 2/5 - 16
12-25398212-AT-GC c.106_107delinsGC p.I36A Missense 2/5 - 1
12-25398213-T-A c.106A>T p.I36L Missense 2/5 - 2
12-25398214-T-C c.105A>G p.T35= Synonymous 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 - 2
12-25398216-T-A c.103A>T p.T35S Missense 2/5 - 21
12-25398216-T-C c.103A>G p.T35A Missense 2/5 - 6
12-25398217-T-A c.102A>T p.P34= Synonymous 2/5 - 1
12-25398218-G-A c.101C>T p.P34L Missense 2/5 - 11
12-25398218-G-C c.101C>G p.P34R Missense 2/5 - 23
12-25398218-G-T c.101C>A p.P34Q Missense 2/5 - 5
12-25398219-G-A c.100C>T p.P34S Missense 2/5 - 4
12-25398219-G-C c.100C>G p.P34A Missense 2/5 - 1
12-25398220-A-C c.99T>G p.D33E Missense 2/5 - 25
12-25398220-A-G c.99T>C p.D33= Synonymous 2/5 - 2
12-25398220-A-T c.99T>A p.D33E Missense 2/5 - 26
12-25398221-T-C c.98A>G p.D33G Missense 2/5 - 1
12-25398222-C-G c.97G>C p.D33H Missense 2/5 - 1
12-25398222-C-T c.97G>A p.D33N Missense 2/5 - 3
12-25398224-T-A c.95A>T p.Y32F Missense 2/5 - 4
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 - 1
12-25398224-T-G c.95A>C p.Y32S Missense 2/5 - 2
12-25398226-T-A c.93A>T p.E31D Missense 2/5 - 4
12-25398226-T-C c.93A>G p.E31= Synonymous 2/5 - 1
12-25398226-T-G c.93A>C p.E31D Missense 2/5 - 3
12-25398227-TC-CT c.91_92delinsAG p.E31R Missense 2/5 - 1
12-25398228-C-G c.91G>C p.E31Q Missense 2/5 - 1
12-25398228-C-T c.91G>A p.E31K Missense 2/5 - 8
12-25398229-G-A c.90C>T p.D30= Synonymous 2/5 - 3
12-25398229-G-C c.90C>G p.D30E Missense 2/5 - 1
12-25398229-G-T c.90C>A p.D30E Missense 2/5 - 1
12-25398230-TC-CA c.88_89delinsTG p.D30C Missense 2/5 - 1
12-25398230-TC-CG c.88_89delinsCG p.D30R Missense 2/5 - 1
12-25398231-C-A c.88G>T p.D30Y Missense 2/5 - 1
12-25398231-C-T c.88G>A p.D30N Missense 2/5 - 2
12-25398233-A-C c.86T>G p.V29G Missense 2/5 - 1
12-25398233-A-G c.86T>C p.V29A Missense 2/5 - 1
12-25398234-C-T c.85G>A p.V29M Missense 2/5 - 2
12-25398236-AA-TC c.82_83delinsGA p.F28D Missense 2/5 - 1
12-25398236-A-G c.83T>C p.F28S Missense 2/5 - 1
12-25398235-A-C c.84T>G p.F28L Missense 2/5 - 6
12-25398235-A-T c.84T>A p.F28L Missense 2/5 - 6
12-25398237-A-G c.82T>C p.F28L Missense 2/5 - 6
12-25398238-A-G c.81T>C p.H27= Synonymous 2/5 - 2
12-25398239-T-A c.80A>T p.H27L Missense 2/5 - 1
12-25398239-T-C c.80A>G p.H27R 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
12-25398242-T-A c.77A>T p.N26I Missense 2/5 - 2
12-25398242-T-C c.77A>G p.N26S Missense 2/5 - 1
12-25398242-TT-CC c.76_77delinsGG p.N26G Missense 2/5 - 2
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 - 3
12-25398244-C-A c.75G>T p.Q25H Missense 2/5 - 4
12-25398244-C-G c.75G>C p.Q25H Missense 2/5 - 4
12-25398245-T-G c.74A>C p.Q25P Missense 2/5 - 1
12-25398245-TG-GC c.73_74delinsGC p.Q25A Missense 2/5 - 2
12-25398246-G-A c.73C>T p.Q25* Nonsense 2/5 - 1
12-25398248-A-T c.71T>A p.I24N Missense 2/5 - 5
12-25398249-T-A c.70A>T p.I24F Missense 2/5 - 1
12-25398249-T-G c.70A>C p.I24L Missense 2/5 - 1
12-25398251-A-C c.68T>G p.L23R Missense 2/5 - 7
12-25398251-AG-GC c.67_68delinsGC p.L23A Missense 2/5 - 2
12-25398254-T-A c.65A>T p.Q22L Missense 2/5 - 2
12-25398254-T-C c.65A>G p.Q22R Missense 2/5 - 16
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 - 2
12-25398255-G-C c.64C>G p.Q22E Missense 2/5 - 10
12-25398255-G-T c.64C>A p.Q22K Missense 2/5 - 55
12-25398256-TA-GC c.62_63delinsGC p.I21S Missense 2/5 - 1
12-25398256-T-C c.63A>G p.I21M Missense 2/5 - 1
12-25398257-A-C c.62T>G p.I21R Missense 2/5 - 1
12-25398257-AT-GC c.61_62delinsGC p.I21A Missense 2/5 - 1
12-25398260-G-A c.59C>T p.T20M Missense 2/5 - 8
12-25398260-G-C c.59C>G p.T20R Missense 2/5 - 3
12-25398261-T-A c.58A>T p.T20S Missense 2/5 - 1
12-25398261-T-C c.58A>G p.T20A Missense 2/5 - 3
12-25398262-C-A c.57G>T p.L19F Missense 2/5 - 58
12-25398262-C-G c.57G>C p.L19F Missense 2/5 - 58
12-25398263-AA-GC c.55_56delinsGC p.L19A Missense 2/5 - 1
12-25398262-C-CA c.56dup p.L19Ffs*15 Frameshift 2/5 - 1
12-25398265-G-A c.54C>T p.A18= Synonymous 2/5 - 1
12-25398265-G-C c.54C>G p.A18= Synonymous 2/5 - 1
12-25398265-GG-CT c.53_54delinsAG p.A18E Missense 2/5 - 1
12-25398265-G-T c.54C>A p.A18= Synonymous 2/5 - 1
12-25398266-G-A c.53C>T p.A18V Missense 2/5 - 1
12-25398266-G-C c.53C>G p.A18G Missense 2/5 - 2
12-25398266-GC-AA c.52_53delinsTT p.A18F Missense 2/5 - 1
12-25398266-GC-TA c.52_53delinsTA p.A18Y Missense 2/5 - 1
12-25398266-G-T c.53C>A p.A18D Missense 2/5 - 35
12-25398267-C-T c.52G>A p.A18T Missense 2/5 - 5
12-25398268-A-C c.51T>G p.S17R Missense 2/5 - 1
12-25398268-ACT-CTC c.49_51delinsGAG p.S17E Missense 2/5 - 3
12-25398268-A-T c.51T>A p.S17R Missense 2/5 - 1
12-25398270-T-G c.49A>C p.S17R Missense 2/5 - 1
12-25398269-C-A c.50G>T p.S17I Missense 2/5 - 1
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 - 2
12-25398269-C-T c.50G>A p.S17N Missense 2/5 - 28
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 - 24
12-25398269-CT-TC c.49_50delinsGA p.S17D Missense 2/5 - 1
12-25398270-T-A c.49A>T p.S17C Missense 2/5 - 7
12-25398270-T-C c.49A>G p.S17G Missense 2/5 - 1
12-25398271-C-A c.48G>T p.K16N Missense 2/5 - 2
12-25398271-C-G c.48G>C p.K16N Missense 2/5 - 2
12-25398272-T-C c.47A>G p.K16R Missense 2/5 - 3
12-25398272-T-G c.47A>C p.K16T Missense 2/5 - 1
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 - 1
12-25398274-G-A c.45C>T p.G15= Synonymous 2/5 - 1
12-25398274-G-C c.45C>G p.G15= Synonymous 2/5 - 1
12-25398274-G-T c.45C>A p.G15= Synonymous 2/5 - 1
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 - 3
12-25398275-C-T c.44G>A p.G15D Missense 2/5 - 1
12-25398276-C-A c.43G>T p.G15C Missense 2/5 - 2
12-25398276-C-G c.43G>C p.G15R Missense 2/5 - 1
12-25398276-C-T c.43G>A p.G15S Missense 2/5 - 8
12-25398277-T-A c.42A>T p.V14= Synonymous 2/5 - 1
12-25398277-T-C c.42A>G p.V14= Synonymous 2/5 - 1
12-25398277-T-G c.42A>C p.V14= Synonymous 2/5 - 1
12-25398278-A-C c.41T>G p.V14G Missense 2/5 - 2
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 - 6
12-25398278-A-ACAC c.40_41insGTG p.G13dup InFrameInsertion 2/5 - 2
12-25398279-C-A c.40G>T p.V14L Missense 2/5 - 7
12-25398279-C-G c.40G>C p.V14L Missense 2/5 - 7
12-25398279-C-T c.40G>A p.V14I Missense 2/5 - 90
12-25398280-G-A c.39C>T p.G13= Synonymous 2/5 - 11
12-25398280-G-C c.39C>G p.G13= Synonymous 2/5 - 10
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-GCC-CTT c.37_39delinsAAG p.G13K Missense 2/5 - 1
12-25398280-GC-CT c.38_39delinsAG p.G13E Missense 2/5 - 14
12-25398280-GCC-TCA c.37_39delinsTGA p.G13* Nonsense 2/5 - 29
12-25398280-G-T c.39C>A p.G13= Synonymous 2/5 - 13
12-25398280-G-TACA c.39delinsTGTA p.V14dup MultiAAMissense 2/5 - 1
12-25398281-C-A c.38G>T p.G13V Missense 2/5 - 128
12-25398281-CC-AA c.37_38delinsTT p.G13F Missense 2/5 - 3
12-25398281-CC-AT c.37_38delinsAT p.G13I Missense 2/5 - 2
12-25398281-CC-GG c.37_38inv p.G13P Missense 2/5 - 8
12-25398281-CC-TA c.37_38delinsTA p.G13Y Missense 2/5 - 5
12-25398281-CC-TG c.37_38delinsCA p.G13H Missense 2/5 - 1
12-25398281-CC-TT c.37_38delinsAA p.G13N Missense 2/5 - 7
12-25398281-C-G c.38G>C p.G13A Missense 2/5 - 68
12-25398281-C-T c.38G>A p.G13D Missense 2/5 - 2152
12-25398281-C-CCTG c.37_38insCAG p.G12_G13insA InFrameInsertion 2/5 - 2
12-25398282-C-A c.37G>T p.G13C Missense 2/5 - 409
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 - 114
12-25398282-C-T c.37G>A p.G13S Missense 2/5 - 98
12-25398283-A-C c.36T>G p.G12= Synonymous 2/5 - 8
12-25398283-ACC-CCA c.34_36delinsTGG p.G12W Missense 2/5 - 14
12-25398283-ACC-CTT c.34_36delinsAAG p.G12K Missense 2/5 - 2
12-25398283-AC-CT c.35_36delinsAG p.G12E Missense 2/5 - 9
12-25398283-ACC-TCA c.34_36delinsTGA p.G12* Nonsense 2/5 - 77
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 - 12
12-25398283-A-T c.36T>A p.G12= Synonymous 2/5 - 8
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 - 3391
12-25398284-CC-AA c.34_35delinsTT p.G12F Missense 2/5 - 114
12-25398284-CC-AG c.34_35delinsCT p.G12L Missense 2/5 - 26
12-25398284-CC-AT c.34_35delinsAT p.G12I Missense 2/5 - 16
12-25398284-CC-GG c.34_35inv p.G12P Missense 2/5 - 4
12-25398284-CC-GT c.34_35delinsAC p.G12T Missense 2/5 - 7
12-25398284-CC-TA c.34_35delinsTA p.G12Y Missense 2/5 - 9
12-25398284-CC-TG c.34_35delinsCA p.G12H Missense 2/5 - 5
12-25398284-CC-TT c.34_35delinsAA p.G12N Missense 2/5 - 12
12-25398284-C-G c.35G>C p.G12A Missense 2/5 - 1151
12-25398284-C-T c.35G>A p.G12D Missense 2/5 - 5584
12-25398281-C-CCACCTG c.37_38insCAGGTG p.A11_G12dup InFrameInsertion 2/5 - 7
12-25398283-AC-A c.35del p.G12Vfs*3 Frameshift 2/5 - 1
12-25398285-C-A c.34G>T p.G12C Missense 2/5 - 2855
12-25398285-C-G c.34G>C p.G12R Missense 2/5 - 981
12-25398285-C-T c.34G>A p.G12S Missense 2/5 - 1182
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 - 1
12-25398286-A-G c.33T>C p.A11= Synonymous 2/5 - 4
12-25398286-A-T c.33T>A p.A11= Synonymous 2/5 - 1
12-25398287-G-A c.32C>T p.A11V Missense 2/5 - 9
12-25398287-GC-AA c.31_32delinsTT p.A11F Missense 2/5 - 1
12-25398287-GC-CG c.31_32delinsCG p.A11R Missense 2/5 - 1
12-25398287-G-T c.32C>A p.A11D Missense 2/5 - 6
12-25398287-G-GCAC c.31_32insGTG p.G10dup InFrameInsertion 2/5 - 4
12-25398288-C-A c.31G>T p.A11S Missense 2/5 - 1
12-25398288-C-G c.31G>C p.A11P Missense 2/5 - 4
12-25398288-C-T c.31G>A p.A11T Missense 2/5 - 6
12-25398287-GCTC-G c.29_31del p.G10del InFrameDeletion 2/5 - 1
12-25398289-T-G c.30A>C p.G10= Synonymous 2/5 - 2
12-25398290-C-A c.29G>T p.G10V Missense 2/5 - 3
12-25398290-CC-AT c.28_29delinsAT p.G10I Missense 2/5 - 1
12-25398290-CC-GG c.28_29inv p.G10P Missense 2/5 - 1
12-25398290-C-G c.29G>C p.G10A Missense 2/5 - 2
12-25398290-C-T c.29G>A p.G10E Missense 2/5 - 3
12-25398289-TC-T c.29del p.G10Efs*5 Frameshift 2/5 - 1
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 - 1
12-25398291-C-G c.28G>C p.G10R Missense 2/5 - 4
12-25398291-C-T c.28G>A p.G10R Missense 2/5 - 4
12-25398292-A-G c.27T>C p.V9= Synonymous 2/5 - 1
12-25398294-C-T c.25G>A p.V9I Missense 2/5 - 1
12-25398295-T-A c.24A>T p.V8= Synonymous 2/5 - 1
12-25398295-TAC-CAT c.22_24delinsATG p.V8M Missense 2/5 - 1
12-25398295-T-C c.24A>G p.V8= Synonymous 2/5 - 6
12-25398295-T-G c.24A>C p.V8= Synonymous 2/5 - 1
12-25398297-C-A c.22G>T p.V8L Missense 2/5 - 1
12-25398297-C-T c.22G>A p.V8I Missense 2/5 - 4
12-25398298-C-A c.21G>T p.V7= Synonymous 2/5 - 1
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-T c.20T>A p.V7E Missense 2/5 - 1
12-25398302-A-G c.17T>C p.L6P 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 - 1
12-25398304-T-A c.15A>T p.K5N Missense 2/5 - 6
12-25398304-T-C c.15A>G p.K5= Synonymous 2/5 - 1
12-25398304-T-G c.15A>C p.K5N Missense 2/5 - 3
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
12-25398306-T-C c.13A>G p.K5E Missense 2/5 - 9
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 - 1
12-25398310-T-G c.9A>C p.E3D Missense 2/5 - 1
12-25398311-T-TA c.7_8insT p.E3Vfs*3 Frameshift 2/5 - 1
12-25398313-A-C c.6T>G p.T2= Synonymous 2/5 - 6
12-25398313-A-G c.6T>C p.T2= Synonymous 2/5 - 6
12-25398313-A-T c.6T>A p.T2= Synonymous 2/5 - 6
12-25398314-G-A c.5C>T p.T2I Missense 2/5 - 1
12-25398318-T-C c.1A>G p.M1? Missense 2/5 - 1
12-25398327-G-A c.-9C>T - 5-UTRSNV 2/5 - 1
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
12-25400531-T-A c.-11-2202A>T - IntronicSNV - 1/4 1
12-25400531-T-C c.-11-2202A>G - IntronicSNV - 1/4 1
12-25401701-T-C c.-12+1984A>G - intron_variant - 1/4 3
12-25403356-C-T c.-12+329G>A - intron_variant - 1/4 1