RUNX2 RUNX family transcription factor 2

Annotation transcript: NM_001024630.4

1444 unique variant annotations were identified in 2282 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-45296144-T-C c.-120T>C - 5_prime_UTR_variant 1/9 - 1
6-45296465-T-C c.2T>C p.M1? Missense 2/9 - 1
6-45296466-G-C c.3G>C p.M1? Missense 2/9 - 1
6-45296469-A-C c.6A>C p.A2= Synonymous 2/9 - 8
6-45296469-A-G c.6A>G p.A2= Synonymous 2/9 - 8
6-45296469-A-T c.6A>T p.A2= Synonymous 2/9 - 8
6-45296472-A-C c.9A>C p.S3= Synonymous 2/9 - 3
6-45296472-A-G c.9A>G p.S3= Synonymous 2/9 - 3
6-45296472-A-T c.9A>T p.S3= Synonymous 2/9 - 3
6-45296475-C-T c.12C>T p.N4= Synonymous 2/9 - 9
6-45296478-C-T c.15C>T p.S5= Synonymous 2/9 - 2
6-45296484-C-T c.21C>T p.F7= Synonymous 2/9 - 1
6-45296487-C-T c.24C>T p.S8= Synonymous 2/9 - 1
6-45296490-A-C c.27A>C p.T9= Synonymous 2/9 - 1
6-45296490-A-G c.27A>G p.T9= Synonymous 2/9 - 1
6-45296490-A-T c.27A>T p.T9= Synonymous 2/9 - 1
6-45296491-GTG-ATC c.28_30delinsATC p.V10I Missense 2/9 - 6
6-45296491-GTG-CAT c.28_30delinsCAT p.V10H Missense 2/9 - 1
6-45296491-GTG-TTT c.28_30delinsTTT p.V10F Missense 2/9 - 1
6-45296492-T-A c.29T>A p.V10E Missense 2/9 - 59
6-45296492-T-C c.29T>C p.V10A Missense 2/9 - 2
6-45296493-G-A c.30G>A p.V10= Synonymous 2/9 - 1
6-45296493-G-C c.30G>C p.V10= Synonymous 2/9 - 1
6-45296493-G-T c.30G>T p.V10= Synonymous 2/9 - 1
6-45296494-ACA-TGT c.31_33inv p.T11C Missense 2/9 - 1
6-45296494-AC-CA c.31_32delinsCA p.T11Q Missense 2/9 - 1
6-45296494-AC-TA c.31_32delinsTA p.T11* Nonsense 2/9 - 2
6-45296494-A-G c.31A>G p.T11A Missense 2/9 - 4
6-45296494-A-T c.31A>T p.T11S Missense 2/9 - 1
6-45296495-CA-TG c.32_33inv p.T11M Missense 2/9 - 1
6-45296495-C-T c.32C>T p.T11I Missense 2/9 - 1
6-45296496-A-C c.33A>C p.T11= Synonymous 2/9 - 2
6-45296496-A-G c.33A>G p.T11= Synonymous 2/9 - 2
6-45296496-A-T c.33A>T p.T11= Synonymous 2/9 - 2
6-45296497-CC-AT c.34_35delinsAT p.P12I Missense 2/9 - 2
6-45296497-CCA-TGG c.34_36inv p.P12W Missense 2/9 - 1
6-45296497-CC-GG c.34_35inv p.P12G Missense 2/9 - 6
6-45296497-C-G c.34C>G p.P12A Missense 2/9 - 7
6-45296497-C-T c.34C>T p.P12S Missense 2/9 - 1
6-45296499-A-C c.36A>C p.P12= Synonymous 2/9 - 1
6-45296499-A-G c.36A>G p.P12= Synonymous 2/9 - 1
6-45296499-A-T c.36A>T p.P12= Synonymous 2/9 - 1
6-45296500-T-A c.37T>A p.C13S Missense 2/9 - 5
6-45296500-T-G c.37T>G p.C13G Missense 2/9 - 2
6-45296500-TG-AT c.37_38delinsAT p.C13I Missense 2/9 - 5
6-45296500-TG-CA c.37_38inv p.C13H Missense 2/9 - 7
6-45296500-TG-CC c.37_38delinsCC p.C13P Missense 2/9 - 1
6-45296500-TG-CT c.37_38delinsCT p.C13L Missense 2/9 - 1
6-45296500-TG-GA c.37_38delinsGA p.C13D Missense 2/9 - 29
6-45296500-TG-GC c.37_38delinsGC p.C13A Missense 2/9 - 488
6-45296500-TG-GT c.37_38delinsGT p.C13V Missense 2/9 - 1
6-45296500-TGT-ATG c.37_39delinsATG p.C13M Missense 2/9 - 4
6-45296500-TGT-GAG c.37_39delinsGAG p.C13E Missense 2/9 - 4
6-45296501-G-C c.38G>C p.C13S Missense 2/9 - 5
6-45296501-G-A c.38G>A p.C13Y Missense 2/9 - 3
6-45296501-G-T c.38G>T p.C13F Missense 2/9 - 3
6-45296502-T-A c.39T>A p.C13* Nonsense 2/9 - 27
6-45296502-T-C c.39T>C p.C13= Synonymous 2/9 - 73
6-45296506-CAA-AAC c.43_45delinsAAC p.Q15N Missense 2/9 - 1
6-45296509-AA-GC c.46_47delinsGC p.N16A Missense 2/9 - 5
6-45296509-AA-TG c.46_47delinsTG p.N16C Missense 2/9 - 1
6-45296509-A-C c.46A>C p.N16H Missense 2/9 - 1
6-45296510-AACT-A c.47_49del p.N16_F17delinsI MultiAAMissense 2/9 - 1
6-45296510-A-G c.47A>G p.N16S Missense 2/9 - 1
6-45296512-TTC-AAG c.49_51delinsAAG p.F17K Missense 2/9 - 1
6-45296512-TT-CG c.49_50delinsCG p.F17R Missense 2/9 - 1
6-45296512-TT-GA c.49_50delinsGA p.F17D Missense 2/9 - 3
6-45296512-TT-GC c.49_50delinsGC p.F17A Missense 2/9 - 7
6-45296512-TT-GG c.49_50delinsGG p.F17G Missense 2/9 - 1
6-45296513-T-A c.50T>A p.F17Y Missense 2/9 - 1
6-45296513-TC-AA c.50_51delinsAA p.F17* Nonsense 2/9 - 1
6-45296513-TC-GG c.50_51delinsGG p.F17W Missense 2/9 - 3
6-45296513-T-G c.50T>G p.F17C Missense 2/9 - 2
6-45296514-C-T c.51C>T p.F17= Synonymous 2/9 - 1
6-45296515-TT-GC c.52_53delinsGC p.F18A Missense 2/9 - 8
6-45296516-T-A c.53T>A p.F18Y Missense 2/9 - 1
6-45296516-T-C c.53T>C p.F18S Missense 2/9 - 1
6-45296516-T-G c.53T>G p.F18C Missense 2/9 - 1
6-45296516-TT-AA c.53_54inv p.F18* Nonsense 2/9 - 1
6-45296521-G-A c.58G>A p.D20N Missense 2/9 - 1
6-45306471-C-T c.58+9950C>T - IntronicSNV - 2/8 2
6-45309183-C-A c.58+12662C>A - IntronicSNV - 2/8 1
6-45309744-A-C c.58+13223A>C - IntronicSNV - 2/8 1
6-45329656-C-T c.58+33135C>T - IntronicSNV - 2/8 5
6-45339851-T-C c.58+43330T>C - IntronicSNV - 2/8 2
6-45345248-A-C c.59-45082A>C - IntronicSNV - 2/8 2
6-45347644-G-A c.59-42686G>A - IntronicSNV - 2/8 1
6-45349497-G-A c.59-40833G>A - IntronicSNV - 2/8 1
6-45356983-A-G c.59-33347A>G - IntronicSNV - 2/8 1
6-45357699-A-C c.59-32631A>C - IntronicSNV - 2/8 2
6-45358107-G-A c.59-32223G>A - IntronicSNV - 2/8 2
6-45358323-G-T c.59-32007G>T - IntronicSNV - 2/8 1
6-45368797-G-A c.59-21533G>A - IntronicSNV - 2/8 2
6-45374014-A-G c.59-16316A>G - IntronicSNV - 2/8 1
6-45374183-A-G c.59-16147A>G - IntronicSNV - 2/8 1
6-45374608-T-A c.59-15722T>A - IntronicSNV - 2/8 1
6-45376221-G-A c.59-14109G>A - IntronicSNV - 2/8 3
6-45376856-G-C c.59-13474G>C - IntronicSNV - 2/8 1
6-45379641-T-C c.59-10689T>C - IntronicSNV - 2/8 1
6-45380124-A-C c.59-10206A>C - IntronicSNV - 2/8 1
6-45381584-G-A c.59-8746G>A - IntronicSNV - 2/8 1
6-45381584-G-T c.59-8746G>T - IntronicSNV - 2/8 1
6-45384018-T-C c.59-6312T>C - IntronicSNV - 2/8 1
6-45389234-A-G c.59-1096A>G - IntronicSNV - 2/8 3
6-45389289-T-C c.59-1041T>C - IntronicSNV - 2/8 5
6-45390330-A-C c.59A>C p.D20A Missense 3/9 - 7
6-45390330-A-G c.59A>G p.D20G Missense 3/9 - 1
6-45390331-T-A c.60T>A p.D20E Missense 3/9 - 1
6-45390331-T-C c.60T>C p.D20= Synonymous 3/9 - 2
6-45390331-T-G c.60T>G p.D20E Missense 3/9 - 1
6-45390332-CCG-AAC c.61_63delinsAAC p.P21N Missense 3/9 - 1
6-45390332-CCG-ATC c.61_63delinsATC p.P21I Missense 3/9 - 2
6-45390332-CC-GG c.61_62inv p.P21G Missense 3/9 - 1
6-45390332-C-G c.61C>G p.P21A Missense 3/9 - 3
6-45390332-C-T c.61C>T p.P21S Missense 3/9 - 1
6-45390333-CG-AT c.62_63delinsAT p.P21H Missense 3/9 - 1
6-45390335-AG-CA c.64_65delinsCA p.S22H Missense 3/9 - 1
6-45390335-AGC-GAG c.64_66delinsGAG p.S22E Missense 3/9 - 1
6-45390335-AG-CT c.64_65inv p.S22L Missense 3/9 - 1
6-45390335-AG-GA c.64_65delinsGA p.S22D Missense 3/9 - 3
6-45390335-AG-GC c.64_65delinsGC p.S22A Missense 3/9 - 14
6-45390335-A-T c.64A>T p.S22C Missense 3/9 - 4
6-45390336-G-A c.65G>A p.S22N Missense 3/9 - 8
6-45390335-A-C c.64A>C p.S22R Missense 3/9 - 4
6-45390337-C-A c.66C>A p.S22R Missense 3/9 - 4
6-45390337-C-G c.66C>G p.S22R Missense 3/9 - 4
6-45390338-AC-GA c.67_68delinsGA p.T23D Missense 3/9 - 1
6-45390338-A-G c.67A>G p.T23A Missense 3/9 - 1
6-45390339-C-A c.68C>A p.T23N Missense 3/9 - 7
6-45390339-C-T c.68C>T p.T23I Missense 3/9 - 1
6-45390341-AG-CA c.70_71delinsCA p.S24H Missense 3/9 - 1
6-45390341-AGC-GAG c.70_72delinsGAG p.S24E Missense 3/9 - 3
6-45390341-AG-GA c.70_71delinsGA p.S24D Missense 3/9 - 5
6-45390341-AG-GC c.70_71delinsGC p.S24A Missense 3/9 - 12
6-45390341-A-T c.70A>T p.S24C Missense 3/9 - 1
6-45390342-G-A c.71G>A p.S24N Missense 3/9 - 1
6-45390344-C-G c.73C>G p.R25G Missense 3/9 - 1
6-45390344-CG-AA c.73_74delinsAA p.R25K Missense 3/9 - 1
6-45390344-CG-AC c.73_74delinsAC p.R25T Missense 3/9 - 4
6-45390344-CG-GA c.73_74delinsGA p.R25E Missense 3/9 - 1
6-45390344-CG-GC c.73_74delinsGC p.R25A Missense 3/9 - 3
6-45390344-CGG-TGT c.73_75delinsTGT p.R25C Missense 3/9 - 2
6-45390344-C-T c.73C>T p.R25W Missense 3/9 - 1
6-45390345-G-A c.74G>A p.R25Q Missense 3/9 - 2
6-45390347-CGC-AAG c.76_78delinsAAG p.R26K Missense 3/9 - 1
6-45390347-CGC-GAG c.76_78delinsGAG p.R26E Missense 3/9 - 1
6-45390347-CG-GC c.76_77delinsGC p.R26A Missense 3/9 - 4
6-45390347-CG-TA c.76_77delinsTA p.R26Y Missense 3/9 - 1
6-45390347-CG-TT c.76_77delinsTT p.R26F Missense 3/9 - 1
6-45390347-C-T c.76C>T p.R26C Missense 3/9 - 1
6-45390348-G-C c.77G>C p.R26P Missense 3/9 - 1
6-45390348-GC-AA c.77_78delinsAA p.R26Q Missense 3/9 - 1
6-45390349-C-A c.78C>A p.R26= Synonymous 3/9 - 116
6-45390349-C-G c.78C>G p.R26= Synonymous 3/9 - 116
6-45390349-C-T c.78C>T p.R26= Synonymous 3/9 - 116
6-45390350-TT-GA c.79_80delinsGA p.F27D Missense 3/9 - 1
6-45390350-TT-GC c.79_80delinsGC p.F27A Missense 3/9 - 3
6-45390351-T-C c.80T>C p.F27S Missense 3/9 - 2
6-45390351-T-G c.80T>G p.F27C Missense 3/9 - 2
6-45390353-A-G c.82A>G p.S28G Missense 3/9 - 1
6-45390353-AG-CA c.82_83delinsCA p.S28H Missense 3/9 - 1
6-45390353-AG-CC c.82_83delinsCC p.S28P Missense 3/9 - 1
6-45390353-AGC-GAG c.82_84delinsGAG p.S28E Missense 3/9 - 3
6-45390353-AGC-TGA c.82_84delinsTGA p.S28* Nonsense 3/9 - 1
6-45390353-AG-GA c.82_83delinsGA p.S28D Missense 3/9 - 4
6-45390353-AG-GC c.82_83delinsGC p.S28A Missense 3/9 - 6
6-45390353-AG-TT c.82_83delinsTT p.S28F Missense 3/9 - 1
6-45390353-A-T c.82A>T p.S28C Missense 3/9 - 4
6-45390354-G-A c.83G>A p.S28N Missense 3/9 - 2
6-45390354-G-C c.83G>C p.S28T Missense 3/9 - 1
6-45390356-C-T c.85C>T p.P29S Missense 3/9 - 1
6-45390359-CCC-AAG c.88_90delinsAAG p.P30K Missense 3/9 - 1
6-45390359-C-G c.88C>G p.P30A Missense 3/9 - 2
6-45390359-C-T c.88C>T p.P30S Missense 3/9 - 1
6-45390360-C-A c.89C>A p.P30H Missense 3/9 - 2
6-45390354-G-GC c.90dup p.S31Lfs*130 Frameshift 3/9 - 1
6-45390361-C-A c.90C>A p.P30= Synonymous 3/9 - 1
6-45390361-C-G c.90C>G p.P30= Synonymous 3/9 - 1
6-45390361-C-T c.90C>T p.P30= Synonymous 3/9 - 1
6-45390362-CT-C c.91del p.S31Pfs*9 Frameshift 3/9 - 1
6-45390362-T-A c.91T>A p.S31T Missense 3/9 - 1
6-45390362-T-C c.91T>C p.S31P Missense 3/9 - 1
6-45390362-TC-AA c.91_92delinsAA p.S31N Missense 3/9 - 3
6-45390362-TCC-AAG c.91_93delinsAAG p.S31K Missense 3/9 - 1
6-45390362-TC-CG c.91_92delinsCG p.S31R Missense 3/9 - 1
6-45390362-TCC-GAG c.91_93delinsGAG p.S31E Missense 3/9 - 2
6-45390362-TC-CT c.91_92delinsCT p.S31L Missense 3/9 - 1
6-45390362-TC-GA c.91_92inv p.S31D Missense 3/9 - 3
6-45390362-TC-GG c.91_92delinsGG p.S31G Missense 3/9 - 2
6-45390362-T-G c.91T>G p.S31A Missense 3/9 - 7
6-45390363-C-G c.92C>G p.S31C Missense 3/9 - 2
6-45390363-C-T c.92C>T p.S31F Missense 3/9 - 1
6-45390365-A-G c.94A>G p.S32G Missense 3/9 - 2
6-45390365-AGC-GAG c.94_96delinsGAG p.S32E Missense 3/9 - 1
6-45390365-AG-GA c.94_95delinsGA p.S32D Missense 3/9 - 2
6-45390365-AG-GC c.94_95delinsGC p.S32A Missense 3/9 - 6
6-45390365-AG-TT c.94_95delinsTT p.S32F Missense 3/9 - 1
6-45390365-A-T c.94A>T p.S32C Missense 3/9 - 1
6-45390368-AG-GC c.97_98delinsGC p.S33A Missense 3/9 - 5
6-45390368-AG-TA c.97_98delinsTA p.S33Y Missense 3/9 - 10
6-45390368-A-T c.97A>T p.S33C Missense 3/9 - 1
6-45390371-CT-GA c.100_101delinsGA p.L34E Missense 3/9 - 2
6-45390371-CTG-TTT c.100_102delinsTTT p.L34F Missense 3/9 - 1
6-45390372-T-A c.101T>A p.L34Q Missense 3/9 - 1
6-45390374-CA-GC c.103_104delinsGC p.Q35A Missense 3/9 - 1
6-45390374-CA-TC c.103_104delinsTC p.Q35S Missense 3/9 - 1
6-45390374-C-T c.103C>T p.Q35* Nonsense 3/9 - 1
6-45390377-C-A c.106C>A p.P36T Missense 3/9 - 1
6-45390377-CC-GA c.106_107delinsGA p.P36D Missense 3/9 - 1
6-45390377-CC-GG c.106_107inv p.P36G Missense 3/9 - 2
6-45390377-C-G c.106C>G p.P36A Missense 3/9 - 1
6-45390377-C-T c.106C>T p.P36S Missense 3/9 - 1
6-45390380-G-A c.109G>A p.G37S Missense 3/9 - 3
6-45390380-G-C c.109G>C p.G37R Missense 3/9 - 18
6-45390380-GG-CT c.109_110delinsCT p.G37L Missense 3/9 - 1
6-45390380-G-T c.109G>T p.G37C Missense 3/9 - 1
6-45390381-G-C c.110G>C p.G37A Missense 3/9 - 2
6-45390383-AA-GC c.112_113delinsGC p.K38A Missense 3/9 - 28
6-45390383-A-C c.112A>C p.K38Q Missense 3/9 - 1
6-45390383-A-G c.112A>G p.K38E Missense 3/9 - 1
6-45390384-A-G c.113A>G p.K38R Missense 3/9 - 5
6-45390386-AT-TA c.115_116delinsTA p.M39* Nonsense 3/9 - 1
6-45390389-AG-CA c.118_119delinsCA p.S40H Missense 3/9 - 2
6-45390389-AG-GA c.118_119delinsGA p.S40D Missense 3/9 - 1
6-45390389-A-T c.118A>T p.S40C Missense 3/9 - 1
6-45390389-A-C c.118A>C p.S40R Missense 3/9 - 1
6-45390391-C-A c.120C>A p.S40R Missense 3/9 - 1
6-45390391-C-G c.120C>G p.S40R Missense 3/9 - 1
6-45390392-G-A c.121G>A p.D41N Missense 3/9 - 1
6-45390392-GA-TG c.121_122delinsTG p.D41C Missense 3/9 - 1
6-45390392-GA-TT c.121_122delinsTT p.D41F Missense 3/9 - 1
6-45390393-A-C c.122A>C p.D41A Missense 3/9 - 1
6-45390394-C-A c.123C>A p.D41E Missense 3/9 - 1
6-45390394-C-G c.123C>G p.D41E Missense 3/9 - 1
6-45390395-GTG-ATC c.124_126delinsATC p.V42I Missense 3/9 - 1
6-45390398-A-G c.127A>G p.S43G Missense 3/9 - 1
6-45390398-AG-GC c.127_128delinsGC p.S43A Missense 3/9 - 1
6-45390398-A-T c.127A>T p.S43C Missense 3/9 - 2
6-45390398-A-C c.127A>C p.S43R Missense 3/9 - 1
6-45390400-C-A c.129C>A p.S43R Missense 3/9 - 1
6-45390400-C-G c.129C>G p.S43R Missense 3/9 - 1
6-45390400-C-T c.129C>T p.S43= Synonymous 3/9 - 1
6-45390401-C-A c.130C>A p.P44T Missense 3/9 - 1
6-45390401-CC-AA c.130_131delinsAA p.P44K Missense 3/9 - 1
6-45390401-CCG-AAC c.130_132delinsAAC p.P44N Missense 3/9 - 1
6-45390401-CC-GG c.130_131inv p.P44G Missense 3/9 - 1
6-45390401-CCG-GAC c.130_132delinsGAC p.P44D Missense 3/9 - 1
6-45390401-CCG-TTT c.130_132delinsTTT p.P44F Missense 3/9 - 1
6-45390401-C-G c.130C>G p.P44A Missense 3/9 - 2
6-45390402-C-A c.131C>A p.P44Q Missense 3/9 - 1
6-45390404-GTG-ATC c.133_135delinsATC p.V45I Missense 3/9 - 1
6-45390404-GTG-TAT c.133_135delinsTAT p.V45Y Missense 3/9 - 1
6-45390404-GTG-TGT c.133_135delinsTGT p.V45C Missense 3/9 - 1
6-45390405-T-A c.134T>A p.V45E Missense 3/9 - 1
6-45390410-G-A c.139G>A p.A47T Missense 3/9 - 1
6-45390410-GCT-CAA c.139_141delinsCAA p.A47Q Missense 3/9 - 1
6-45390410-GC-TG c.139_140delinsTG p.A47C Missense 3/9 - 1
6-45390410-G-T c.139G>T p.A47S Missense 3/9 - 1
6-45390411-C-A c.140C>A p.A47D Missense 3/9 - 2
6-45390411-C-T c.140C>T p.A47V Missense 3/9 - 1
6-45390411-CT-AG c.140_141inv p.A47E Missense 3/9 - 1
6-45390412-T-A c.141T>A p.A47= Synonymous 3/9 - 1
6-45390412-T-C c.141T>C p.A47= Synonymous 3/9 - 1
6-45390412-T-G c.141T>G p.A47= Synonymous 3/9 - 1
6-45390413-GC-CA c.142_143delinsCA p.A48Q Missense 3/9 - 1
6-45390413-GCG-TGT c.142_144delinsTGT p.A48C Missense 3/9 - 4
6-45390413-GCG-TTT c.142_144delinsTTT p.A48F Missense 3/9 - 1
6-45390413-GC-TG c.142_143delinsTG p.A48W Missense 3/9 - 3
6-45390414-C-A c.143C>A p.A48E Missense 3/9 - 2
6-45390414-C-G c.143C>G p.A48G Missense 3/9 - 2
6-45390414-CG-AC c.143_144delinsAC p.A48D Missense 3/9 - 3
6-45390415-G-A c.144G>A p.A48= Synonymous 3/9 - 3
6-45390415-G-C c.144G>C p.A48= Synonymous 3/9 - 3
6-45390415-G-T c.144G>T p.A48= Synonymous 3/9 - 3
6-45390416-CAA-TGT c.145_147delinsTGT p.Q49C Missense 3/9 - 1
6-45390417-A-T c.146A>T p.Q49L Missense 3/9 - 1
6-45390414-CGCAACAGCAGCAGCAACA-C c.147_164del p.Q66_Q71del InFrameDeletion 3/9 - 1
6-45390418-A-AT c.147_148insT p.Q50Sfs*111 Frameshift 3/9 - 1
6-45390419-C-A c.148C>A p.Q50K Missense 3/9 - 1
6-45390419-CA-GC c.148_149delinsGC p.Q50A Missense 3/9 - 1
6-45390419-CAG-TGT c.148_150delinsTGT p.Q50C Missense 3/9 - 1
6-45390422-CA-GC c.151_152delinsGC p.Q51A Missense 3/9 - 3
6-45390422-C-T c.151C>T p.Q51* Nonsense 3/9 - 1
6-45390423-A-G c.152A>G p.Q51R Missense 3/9 - 1
6-45390425-C-A c.154C>A p.Q52K Missense 3/9 - 1
6-45390425-C-T c.154C>T p.Q52* Nonsense 3/9 - 1
6-45390428-C-G c.157C>G p.Q53E Missense 3/9 - 1
6-45390429-A-T c.158A>T p.Q53L Missense 3/9 - 1
6-45390431-CA-GG c.160_161delinsGG p.Q54G Missense 3/9 - 1
6-45390431-CAG-TGT c.160_162delinsTGT p.Q54C Missense 3/9 - 1
6-45390432-A-G c.161A>G p.Q54R Missense 3/9 - 1
6-45390434-C-A c.163C>A p.Q55K Missense 3/9 - 1
6-45390435-A-G c.164A>G p.Q55R Missense 3/9 - 1
6-45390437-C-G c.166C>G p.Q56E Missense 3/9 - 1
6-45390437-C-T c.166C>T p.Q56* Nonsense 3/9 - 1
6-45390439-G-C c.168G>C p.Q56H Missense 3/9 - 1
6-45390439-G-T c.168G>T p.Q56H Missense 3/9 - 1
6-45390440-C-T c.169C>T p.Q57* Nonsense 3/9 - 1
6-45390441-A-G c.170A>G p.Q57R Missense 3/9 - 1
6-45390442-G-C c.171G>C p.Q57H Missense 3/9 - 1
6-45390442-G-T c.171G>T p.Q57H Missense 3/9 - 1
6-45390443-CAA-TGT c.172_174delinsTGT p.Q58C Missense 3/9 - 1
6-45390443-C-G c.172C>G p.Q58E Missense 3/9 - 1
6-45390446-C-A c.175C>A p.Q59K Missense 3/9 - 1
6-45390447-A-G c.176A>G p.Q59R Missense 3/9 - 1
6-45390449-C-G c.178C>G p.Q60E Missense 3/9 - 2
6-45390452-C-A c.181C>A p.Q61K Missense 3/9 - 5
6-45390452-CAG-ATC c.181_183delinsATC p.Q61I Missense 3/9 - 1
6-45390452-CA-GC c.181_182delinsGC p.Q61A Missense 3/9 - 2
6-45390452-CA-GG c.181_182delinsGG p.Q61G Missense 3/9 - 2
6-45390452-CA-GT c.181_182delinsGT p.Q61V Missense 3/9 - 1
6-45390452-CA-TC c.181_182delinsTC p.Q61S Missense 3/9 - 1
6-45390452-C-G c.181C>G p.Q61E Missense 3/9 - 1
6-45390453-A-G c.182A>G p.Q61R Missense 3/9 - 1
6-45390453-A-T c.182A>T p.Q61L Missense 3/9 - 75
6-45390455-GC-G c.184del p.Q62Sfs*82 Frameshift 3/9 - 1
6-45390458-CA-GC c.187_188delinsGC p.Q63A Missense 3/9 - 1
6-45390458-C-G c.187C>G p.Q63E Missense 3/9 - 3
6-45390458-C-T c.187C>T p.Q63* Nonsense 3/9 - 2
6-45390459-A-T c.188A>T p.Q63L Missense 3/9 - 26
6-45390461-CAG-AAC c.190_192delinsAAC p.Q64N Missense 3/9 - 1
6-45390461-CA-GC c.190_191delinsGC p.Q64A Missense 3/9 - 1
6-45390462-A-T c.191A>T p.Q64L Missense 3/9 - 5
6-45390445-ACAG-A c.192_194del p.Q71del InFrameDeletion 3/9 - 2
6-45390464-CA-GC c.193_194delinsGC p.Q65A Missense 3/9 - 3
6-45390465-A-T c.194A>T p.Q65L Missense 3/9 - 2
6-45390466-A-C c.195A>C p.Q65H Missense 3/9 - 2
6-45390466-A-T c.195A>T p.Q65H Missense 3/9 - 2
6-45390467-C-A c.196C>A p.Q66K Missense 3/9 - 1
6-45390467-CA-AC c.196_197delinsAC p.Q66T Missense 3/9 - 3
6-45390467-CA-AT c.196_197delinsAT p.Q66M Missense 3/9 - 1
6-45390468-A-T c.197A>T p.Q66L Missense 3/9 - 3
6-45390470-C-A c.199C>A p.Q67K Missense 3/9 - 2
6-45390470-CAG-AAC c.199_201delinsAAC p.Q67N Missense 3/9 - 1
6-45390470-CA-GC c.199_200delinsGC p.Q67A Missense 3/9 - 2
6-45390470-CAG-TGT c.199_201delinsTGT p.Q67C Missense 3/9 - 1
6-45390470-C-G c.199C>G p.Q67E Missense 3/9 - 1
6-45390470-C-T c.199C>T p.Q67* Nonsense 3/9 - 2
6-45390471-A-T c.200A>T p.Q67L Missense 3/9 - 35
6-45390472-G-A c.201G>A p.Q67= Synonymous 3/9 - 1
6-45390472-G-C c.201G>C p.Q67H Missense 3/9 - 1
6-45390472-G-T c.201G>T p.Q67H Missense 3/9 - 1
6-45390473-CA-GC c.202_203delinsGC p.Q68A Missense 3/9 - 1
6-45390474-A-G c.203A>G p.Q68R Missense 3/9 - 1
6-45390474-A-T c.203A>T p.Q68L Missense 3/9 - 11
6-45390476-C-A c.205C>A p.Q69K Missense 3/9 - 3
6-45390476-CA-AT c.205_206delinsAT p.Q69M Missense 3/9 - 7
6-45390476-CA-GC c.205_206delinsGC p.Q69A Missense 3/9 - 1
6-45390476-C-G c.205C>G p.Q69E Missense 3/9 - 1
6-45390477-A-T c.206A>T p.Q69L Missense 3/9 - 17
6-45390479-CA-AT c.208_209delinsAT p.Q70M Missense 3/9 - 1
6-45390479-CAG-TGT c.208_210delinsTGT p.Q70C Missense 3/9 - 1
6-45390479-C-T c.208C>T p.Q70* Nonsense 3/9 - 1
6-45390480-A-G c.209A>G p.Q70R Missense 3/9 - 1
6-45390480-A-T c.209A>T p.Q70L Missense 3/9 - 15
6-45390466-ACAG-A c.211_213del p.Q71del InFrameDeletion 3/9 - 1
6-45390482-CA-GC c.211_212delinsGC p.Q71A Missense 3/9 - 2
6-45390483-A-T c.212A>T p.Q71L Missense 3/9 - 11
6-45390484-G-GCAACAACAACAA c.213_214insCAACAACAACAA p.Q68_Q71dup InFrameInsertion 3/9 - 1
6-45390485-G-A c.214G>A p.E72K Missense 3/9 - 1
6-45390485-GAG-TGT c.214_216delinsTGT p.E72C Missense 3/9 - 1
6-45390485-G-C c.214G>C p.E72Q Missense 3/9 - 1
6-45390483-AGGAGGC-A c.215_220del p.E72_A73del InFrameDeletion 3/9 - 1
6-45390487-G-A c.216G>A p.E72= Synonymous 3/9 - 1
6-45390487-G-C c.216G>C p.E72D Missense 3/9 - 1
6-45390487-G-T c.216G>T p.E72D Missense 3/9 - 1
6-45390488-GCG-TGT c.217_219delinsTGT p.A73C Missense 3/9 - 2
6-45390488-GCG-TTT c.217_219delinsTTT p.A73F Missense 3/9 - 2
6-45390488-GC-TA c.217_218delinsTA p.A73* Nonsense 3/9 - 1
6-45390488-G-T c.217G>T p.A73S Missense 3/9 - 1
6-45390489-C-A c.218C>A p.A73E Missense 3/9 - 2
6-45390489-CG-AC c.218_219delinsAC p.A73D Missense 3/9 - 3
6-45390489-C-T c.218C>T p.A73V Missense 3/9 - 1
6-45390490-G-A c.219G>A p.A73= Synonymous 3/9 - 1
6-45390490-G-C c.219G>C p.A73= Synonymous 3/9 - 1
6-45390490-G-T c.219G>T p.A73= Synonymous 3/9 - 1
6-45390491-G-C c.220G>C p.A74P Missense 3/9 - 1
6-45390491-GCG-TGT c.220_222delinsTGT p.A74C Missense 3/9 - 4
6-45390491-GCG-TTT c.220_222delinsTTT p.A74F Missense 3/9 - 2
6-45390491-G-T c.220G>T p.A74S Missense 3/9 - 1
6-45390492-C-A c.221C>A p.A74E Missense 3/9 - 2
6-45390492-CG-AC c.221_222delinsAC p.A74D Missense 3/9 - 1
6-45390494-G-C c.223G>C p.A75P Missense 3/9 - 1
6-45390494-GC-AA c.223_224delinsAA p.A75K Missense 3/9 - 1
6-45390494-GC-AG c.223_224delinsAG p.A75R Missense 3/9 - 2
6-45390494-GC-CA c.223_224delinsCA p.A75Q Missense 3/9 - 1
6-45390494-GCG-AAC c.223_225delinsAAC p.A75N Missense 3/9 - 1
6-45390494-GCG-TGT c.223_225delinsTGT p.A75C Missense 3/9 - 4
6-45390494-GCG-TTT c.223_225delinsTTT p.A75F Missense 3/9 - 1
6-45390494-G-T c.223G>T p.A75S Missense 3/9 - 1
6-45390495-C-A c.224C>A p.A75E Missense 3/9 - 1
6-45390495-C-G c.224C>G p.A75G Missense 3/9 - 3
6-45390495-CG-AC c.224_225delinsAC p.A75D Missense 3/9 - 3
6-45390497-G-A c.226G>A p.A76T Missense 3/9 - 1
6-45390497-G-C c.226G>C p.A76P Missense 3/9 - 1
6-45390497-GCG-TGT c.226_228delinsTGT p.A76C Missense 3/9 - 2
6-45390497-G-T c.226G>T p.A76S Missense 3/9 - 1
6-45390498-C-A c.227C>A p.A76E Missense 3/9 - 4
6-45390498-CG-AC c.227_228delinsAC p.A76D Missense 3/9 - 3
6-45390486-AGGC-A c.228_230del p.A89del InFrameDeletion 3/9 - 1
6-45390499-G-A c.228G>A p.A76= Synonymous 3/9 - 2
6-45390499-G-C c.228G>C p.A76= Synonymous 3/9 - 2
6-45390499-G-T c.228G>T p.A76= Synonymous 3/9 - 2
6-45390500-GC-TG c.229_230delinsTG p.A77C Missense 3/9 - 2
6-45390500-GC-TT c.229_230delinsTT p.A77F Missense 3/9 - 2
6-45390501-C-A c.230C>A p.A77D Missense 3/9 - 2
6-45390501-C-T c.230C>T p.A77V Missense 3/9 - 2
6-45390501-CT-AG c.230_231inv p.A77E Missense 3/9 - 2
6-45390502-CTG-C c.231_232del p.A78Gfs*82 Frameshift 3/9 - 1
6-45390502-T-A c.231T>A p.A77= Synonymous 3/9 - 1
6-45390502-T-C c.231T>C p.A77= Synonymous 3/9 - 1
6-45390502-T-G c.231T>G p.A77= Synonymous 3/9 - 1
6-45390503-G-A c.232G>A p.A78T Missense 3/9 - 1
6-45390503-GC-AT c.232_233delinsAT p.A78M Missense 3/9 - 1
6-45390503-GCG-TGT c.232_234delinsTGT p.A78C Missense 3/9 - 2
6-45390503-GCG-TTT c.232_234delinsTTT p.A78F Missense 3/9 - 2
6-45390504-C-A c.233C>A p.A78E Missense 3/9 - 2
6-45390504-CG-AC c.233_234delinsAC p.A78D Missense 3/9 - 3
6-45390505-G-A c.234G>A p.A78= Synonymous 3/9 - 1
6-45390505-G-C c.234G>C p.A78= Synonymous 3/9 - 1
6-45390505-G-T c.234G>T p.A78= Synonymous 3/9 - 1
6-45390506-GCG-TTT c.235_237delinsTTT p.A79F Missense 3/9 - 1
6-45390507-CG-AC c.236_237delinsAC p.A79D Missense 3/9 - 8
6-45390508-G-A c.237G>A p.A79= Synonymous 3/9 - 4
6-45390508-G-C c.237G>C p.A79= Synonymous 3/9 - 4
6-45390508-G-T c.237G>T p.A79= Synonymous 3/9 - 4
6-45390509-GC-AT c.238_239delinsAT p.A80M Missense 3/9 - 1
6-45390509-GCG-ATC c.238_240delinsATC p.A80I Missense 3/9 - 1
6-45390509-GCG-TGT c.238_240delinsTGT p.A80C Missense 3/9 - 4
6-45390509-GCG-TTT c.238_240delinsTTT p.A80F Missense 3/9 - 3
6-45390510-C-A c.239C>A p.A80E Missense 3/9 - 2
6-45390510-CG-AC c.239_240delinsAC p.A80D Missense 3/9 - 2
6-45390510-C-T c.239C>T p.A80V Missense 3/9 - 1
6-45390511-G-A c.240G>A p.A80= Synonymous 3/9 - 4
6-45390511-G-C c.240G>C p.A80= Synonymous 3/9 - 3
6-45390511-G-T c.240G>T p.A80= Synonymous 3/9 - 4
6-45390512-G-A c.241G>A p.A81T Missense 3/9 - 1
6-45390512-GCG-TGT c.241_243delinsTGT p.A81C Missense 3/9 - 1
6-45390512-GCG-TTT c.241_243delinsTTT p.A81F Missense 3/9 - 2
6-45390513-C-A c.242C>A p.A81E Missense 3/9 - 1
6-45390513-CG-AC c.242_243delinsAC p.A81D Missense 3/9 - 4
6-45390514-G-A c.243G>A p.A81= Synonymous 3/9 - 1
6-45390514-G-C c.243G>C p.A81= Synonymous 3/9 - 1
6-45390514-G-T c.243G>T p.A81= Synonymous 3/9 - 1
6-45390515-G-C c.244G>C p.A82P Missense 3/9 - 1
6-45390515-GC-AA c.244_245delinsAA p.A82K Missense 3/9 - 2
6-45390515-GCG-TGT c.244_246delinsTGT p.A82C Missense 3/9 - 1
6-45390515-GCG-TTT c.244_246delinsTTT p.A82F Missense 3/9 - 5
6-45390515-G-T c.244G>T p.A82S Missense 3/9 - 1
6-45390516-CG-AC c.245_246delinsAC p.A82D Missense 3/9 - 2
6-45390518-GC-TG c.247_248delinsTG p.A83C Missense 3/9 - 2
6-45390518-GC-TT c.247_248delinsTT p.A83F Missense 3/9 - 3
6-45390519-C-A c.248C>A p.A83D Missense 3/9 - 3
6-45390519-C-T c.248C>T p.A83V Missense 3/9 - 1
6-45390521-GCG-TGT c.250_252delinsTGT p.A84C Missense 3/9 - 1
6-45390521-GCG-TTT c.250_252delinsTTT p.A84F Missense 3/9 - 1
6-45390521-G-T c.250G>T p.A84S Missense 3/9 - 1
6-45390522-C-A c.251C>A p.A84E Missense 3/9 - 5
6-45390522-CG-AC c.251_252delinsAC p.A84D Missense 3/9 - 6
6-45390523-G-A c.252G>A p.A84= Synonymous 3/9 - 2
6-45390523-G-C c.252G>C p.A84= Synonymous 3/9 - 2
6-45390523-G-T c.252G>T p.A84= Synonymous 3/9 - 2
6-45390524-GCG-TGT c.253_255delinsTGT p.A85C Missense 3/9 - 4
6-45390524-GCG-TTT c.253_255delinsTTT p.A85F Missense 3/9 - 1
6-45390525-C-A c.254C>A p.A85E Missense 3/9 - 4
6-45390525-CG-AC c.254_255delinsAC p.A85D Missense 3/9 - 3
6-45390526-G-A c.255G>A p.A85= Synonymous 3/9 - 1
6-45390526-G-C c.255G>C p.A85= Synonymous 3/9 - 1
6-45390526-G-T c.255G>T p.A85= Synonymous 3/9 - 1
6-45390527-G-A c.256G>A p.A86T Missense 3/9 - 1
6-45390527-GC-CT c.256_257delinsCT p.A86L Missense 3/9 - 1
6-45390527-GCG-TGT c.256_258delinsTGT p.A86C Missense 3/9 - 1
6-45390528-C-A c.257C>A p.A86E Missense 3/9 - 4
6-45390528-CG-AC c.257_258delinsAC p.A86D Missense 3/9 - 1
6-45390528-C-T c.257C>T p.A86V Missense 3/9 - 1
6-45390529-G-A c.258G>A p.A86= Synonymous 3/9 - 4
6-45390529-G-C c.258G>C p.A86= Synonymous 3/9 - 4
6-45390529-G-T c.258G>T p.A86= Synonymous 3/9 - 4
6-45390530-G-A c.259G>A p.A87T Missense 3/9 - 2
6-45390530-GCA-TGT c.259_261delinsTGT p.A87C Missense 3/9 - 4
6-45390531-C-A c.260C>A p.A87E Missense 3/9 - 4
6-45390531-CA-AC c.260_261delinsAC p.A87D Missense 3/9 - 2
6-45390531-C-G c.260C>G p.A87G Missense 3/9 - 1
6-45390532-A-C c.261A>C p.A87= Synonymous 3/9 - 5
6-45390532-A-G c.261A>G p.A87= Synonymous 3/9 - 6
6-45390532-A-T c.261A>T p.A87= Synonymous 3/9 - 5
6-45390533-GC-TT c.262_263delinsTT p.A88F Missense 3/9 - 5
6-45390533-G-T c.262G>T p.A88S Missense 3/9 - 1
6-45390534-C-A c.263C>A p.A88D Missense 3/9 - 3
6-45390534-C-T c.263C>T p.A88V Missense 3/9 - 3
6-45390534-CT-AG c.263_264inv p.A88E Missense 3/9 - 1
6-45390536-GCA-TGT c.265_267delinsTGT p.A89C Missense 3/9 - 1
6-45390536-GCA-TTT c.265_267delinsTTT p.A89F Missense 3/9 - 2
6-45390536-GC-CT c.265_266delinsCT p.A89L Missense 3/9 - 2
6-45390537-C-A c.266C>A p.A89E Missense 3/9 - 3
6-45390537-CA-AC c.266_267delinsAC p.A89D Missense 3/9 - 4
6-45390537-C-G c.266C>G p.A89G Missense 3/9 - 1
6-45390538-A-C c.267A>C p.A89= Synonymous 3/9 - 1
6-45390538-A-G c.267A>G p.A89= Synonymous 3/9 - 1
6-45390538-A-T c.267A>T p.A89= Synonymous 3/9 - 1
6-45390539-GTG-ATC c.268_270delinsATC p.V90I Missense 3/9 - 1
6-45390545-CG-AA c.274_275delinsAA p.R92K Missense 3/9 - 2
6-45390545-CG-GC c.274_275delinsGC p.R92A Missense 3/9 - 2
6-45390545-C-T c.274C>T p.R92W Missense 3/9 - 1
6-45390546-G-A c.275G>A p.R92Q Missense 3/9 - 2
6-45390548-TT-AA c.277_278inv p.L93K Missense 3/9 - 1
6-45390548-TT-GC c.277_278delinsGC p.L93A Missense 3/9 - 2
6-45390551-C-G c.280C>G p.R94G Missense 3/9 - 1
6-45390551-CG-GC c.280_281delinsGC p.R94A Missense 3/9 - 1
6-45390551-CGG-TGT c.280_282delinsTGT p.R94C Missense 3/9 - 1
6-45390552-G-T c.281G>T p.R94L Missense 3/9 - 1
6-45390554-C-G c.283C>G p.P95A Missense 3/9 - 1
6-45390555-C-T c.284C>T p.P95L Missense 3/9 - 1
6-45390557-CC-GG c.286_287inv p.P96G Missense 3/9 - 3
6-45390557-CC-GT c.286_287delinsGT p.P96V Missense 3/9 - 1
6-45390557-C-G c.286C>G p.P96A Missense 3/9 - 2
6-45390557-C-T c.286C>T p.P96S Missense 3/9 - 1
6-45390558-CC-AA c.287_288delinsAA p.P96Q Missense 3/9 - 1
6-45390558-C-T c.287C>T p.P96L Missense 3/9 - 1
6-45390559-C-T c.288C>T p.P96= Synonymous 3/9 - 1
6-45390560-C-A c.289C>A p.H97N Missense 3/9 - 1
6-45390560-CAC-TGG c.289_291delinsTGG p.H97W Missense 3/9 - 1
6-45390560-CA-GC c.289_290delinsGC p.H97A Missense 3/9 - 7
6-45390560-CA-GT c.289_290delinsGT p.H97V Missense 3/9 - 1
6-45390560-CA-TG c.289_290inv p.H97C Missense 3/9 - 4
6-45390560-C-G c.289C>G p.H97D Missense 3/9 - 2
6-45390561-A-G c.290A>G p.H97R Missense 3/9 - 1
6-45390562-C-A c.291C>A p.H97Q Missense 3/9 - 1
6-45390562-C-G c.291C>G p.H97Q Missense 3/9 - 1
6-45390563-G-A c.292G>A p.D98N Missense 3/9 - 2
6-45390564-A-C c.293A>C p.D98A Missense 3/9 - 1
6-45390564-A-G c.293A>G p.D98G Missense 3/9 - 2
6-45390566-A-G c.295A>G p.N99D Missense 3/9 - 2
6-45390567-AC-GG c.296_297delinsGG p.N99R Missense 3/9 - 1
6-45390568-C-A c.297C>A p.N99K Missense 3/9 - 1
6-45390568-C-G c.297C>G p.N99K Missense 3/9 - 1
6-45390569-C-A c.298C>A p.R100S Missense 3/9 - 1
6-45390569-CGC-GAG c.298_300delinsGAG p.R100E Missense 3/9 - 1
6-45390569-CG-GC c.298_299delinsGC p.R100A Missense 3/9 - 2
6-45390570-GC-AA c.299_300delinsAA p.R100Q Missense 3/9 - 1
6-45390572-A-G c.301A>G p.T101A Missense 3/9 - 2
6-45390573-CC-TG c.302_303delinsTG p.T101M Missense 3/9 - 1
6-45390573-C-T c.302C>T p.T101I Missense 3/9 - 3
6-45390575-A-C c.304A>C p.M102L Missense 3/9 - 1
6-45390575-A-T c.304A>T p.M102L Missense 3/9 - 1
6-45390575-AT-CA c.304_305delinsCA p.M102Q Missense 3/9 - 1
6-45390577-G-A c.306G>A p.M102I Missense 3/9 - 1
6-45390577-G-C c.306G>C p.M102I Missense 3/9 - 1
6-45390577-G-T c.306G>T p.M102I Missense 3/9 - 1
6-45390578-G-C c.307G>C p.V103L Missense 3/9 - 2
6-45390578-G-T c.307G>T p.V103L Missense 3/9 - 2
6-45390578-GTG-AAC c.307_309delinsAAC p.V103N Missense 3/9 - 1
6-45390578-GTG-ATC c.307_309delinsATC p.V103I Missense 3/9 - 2
6-45390578-GTG-TGT c.307_309delinsTGT p.V103C Missense 3/9 - 1
6-45390581-G-C c.310G>C p.E104Q Missense 3/9 - 6
6-45390582-A-C c.311A>C p.E104A Missense 3/9 - 2
6-45390584-AT-GC c.313_314delinsGC p.I105A Missense 3/9 - 2
6-45390584-AT-TG c.313_314delinsTG p.I105C Missense 3/9 - 1
6-45390585-T-A c.314T>A p.I105N Missense 3/9 - 2
6-45390587-A-G c.316A>G p.I106V Missense 3/9 - 1
6-45390587-AT-GG c.316_317delinsGG p.I106G Missense 3/9 - 1
6-45390588-TC-GG c.317_318delinsGG p.I106R Missense 3/9 - 1
6-45390589-C-G c.318C>G p.I106M Missense 3/9 - 1
6-45390590-G-A c.319G>A p.A107T Missense 3/9 - 2
6-45390590-G-C c.319G>C p.A107P Missense 3/9 - 2
6-45390590-GC-TG c.319_320delinsTG p.A107C Missense 3/9 - 1
6-45390593-GAC-AAG c.322_324delinsAAG p.D108K Missense 3/9 - 1
6-45390594-A-C c.323A>C p.D108A Missense 3/9 - 2
6-45390595-C-T c.324C>T p.D108= Synonymous 3/9 - 1
6-45390596-CA-GC c.325_326delinsGC p.H109A Missense 3/9 - 3
6-45390599-CC-TA c.328_329delinsTA p.P110* Nonsense 3/9 - 1
6-45390599-C-G c.328C>G p.P110A Missense 3/9 - 3
6-45390599-C-T c.328C>T p.P110S Missense 3/9 - 2
6-45390602-GC-TG c.331_332delinsTG p.A111C Missense 3/9 - 1
6-45390605-G-A c.334G>A p.E112K Missense 3/9 - 2
6-45390605-GA-AT c.334_335delinsAT p.E112I Missense 3/9 - 1
6-45390606-A-C c.335A>C p.E112A Missense 3/9 - 2
6-45390607-A-C c.336A>C p.E112D Missense 3/9 - 2
6-45390607-A-T c.336A>T p.E112D Missense 3/9 - 2
6-45390608-C-G c.337C>G p.L113V Missense 3/9 - 1
6-45390608-CT-GC c.337_338delinsGC p.L113A Missense 3/9 - 1
6-45390609-T-G c.338T>G p.L113R Missense 3/9 - 1
6-45390611-G-A c.340G>A p.V114I Missense 3/9 - 3
6-45390612-T-C c.341T>C p.V114A Missense 3/9 - 2
6-45390614-C-G c.343C>G p.R115G Missense 3/9 - 1
6-45390614-CG-GC c.343_344delinsGC p.R115A Missense 3/9 - 3
6-45390614-C-T c.343C>T p.R115C Missense 3/9 - 3
6-45390615-GC-AA c.344_345delinsAA p.R115Q Missense 3/9 - 1
6-45390615-G-T c.344G>T p.R115L Missense 3/9 - 1
6-45390617-AC-GT c.346_347inv p.T116V Missense 3/9 - 2
6-45390620-G-A c.349G>A p.D117N Missense 3/9 - 1
6-45390620-GA-AG c.349_350delinsAG p.D117S Missense 3/9 - 1
6-45390620-GAC-TAA c.349_351delinsTAA p.D117* Nonsense 3/9 - 1
6-45390621-A-C c.350A>C p.D117A Missense 3/9 - 2
6-45390621-A-G c.350A>G p.D117G Missense 3/9 - 1
6-45390622-C-A c.351C>A p.D117E Missense 3/9 - 1
6-45390622-C-G c.351C>G p.D117E Missense 3/9 - 1
6-45390623-A-G c.352A>G p.S118G Missense 3/9 - 1
6-45390623-AG-GA c.352_353delinsGA p.S118D Missense 3/9 - 1
6-45390623-AG-GC c.352_353delinsGC p.S118A Missense 3/9 - 2
6-45390623-AG-TT c.352_353delinsTT p.S118F Missense 3/9 - 1
6-45390623-A-C c.352A>C p.S118R Missense 3/9 - 1
6-45390625-C-A c.354C>A p.S118R Missense 3/9 - 1
6-45390625-C-G c.354C>G p.S118R Missense 3/9 - 1
6-45390629-AAC-GAG c.358_360delinsGAG p.N120E Missense 3/9 - 1
6-45390629-AA-GC c.358_359delinsGC p.N120A Missense 3/9 - 3
6-45390629-AA-TG c.358_359delinsTG p.N120C Missense 3/9 - 1
6-45390632-T-C c.361T>C p.F121L Missense 3/9 - 1
6-45390632-TT-CC c.361_362delinsCC p.F121P Missense 3/9 - 1
6-45390632-TT-GC c.361_362delinsGC p.F121A Missense 3/9 - 4
6-45390634-C-A c.363C>A p.F121L Missense 3/9 - 1
6-45390634-C-G c.363C>G p.F121L Missense 3/9 - 1
6-45390633-T-A c.362T>A p.F121Y Missense 3/9 - 14
6-45390633-T-C c.362T>C p.F121S Missense 3/9 - 1
6-45390635-CT-AA c.364_365delinsAA p.L122K Missense 3/9 - 1
6-45390636-T-A c.365T>A p.L122Q Missense 3/9 - 1
6-45390638-T-A c.367T>A p.C123S Missense 3/9 - 2
6-45390638-T-C c.367T>C p.C123R Missense 3/9 - 1
6-45390638-TGC-ATG c.367_369delinsATG p.C123M Missense 3/9 - 1
6-45390639-G-C c.368G>C p.C123S Missense 3/9 - 2
6-45390641-TCG-GAC c.370_372delinsGAC p.S124D Missense 3/9 - 3
6-45390641-T-G c.370T>G p.S124A Missense 3/9 - 3
6-45390642-C-G c.371C>G p.S124W Missense 3/9 - 1
6-45390642-CG-GT c.371_372delinsGT p.S124C Missense 3/9 - 1
6-45390644-GT-AG c.373_374delinsAG p.V125R Missense 3/9 - 1
6-45390645-T-C c.374T>C p.V125A Missense 3/9 - 1
6-45390645-TG-AC c.374_375delinsAC p.V125D Missense 3/9 - 1
6-45390650-CC-TG c.379_380delinsTG p.P127C Missense 3/9 - 1
6-45390650-C-T c.379C>T p.P127S Missense 3/9 - 1
6-45390653-T-A c.382T>A p.S128T Missense 3/9 - 1
6-45390653-T-G c.382T>G p.S128A Missense 3/9 - 4
6-45390656-C-A c.385C>A p.H129N Missense 3/9 - 1
6-45390656-CA-AG c.385_386delinsAG p.H129S Missense 3/9 - 1
6-45390656-CAC-GAG c.385_387delinsGAG p.H129E Missense 3/9 - 1
6-45390656-CA-GC c.385_386delinsGC p.H129A Missense 3/9 - 2
6-45390657-A-T c.386A>T p.H129L Missense 3/9 - 1
6-45390659-TGG-ATC c.388_390delinsATC p.W130I Missense 3/9 - 1
6-45390660-G-A c.389G>A p.W130* Nonsense 3/9 - 1
6-45390662-C-G c.391C>G p.R131G Missense 3/9 - 4
6-45390662-CG-GC c.391_392delinsGC p.R131A Missense 3/9 - 5
6-45390662-C-T c.391C>T p.R131C Missense 3/9 - 6
6-45390663-G-A c.392G>A p.R131H Missense 3/9 - 1
6-45390663-G-C c.392G>C p.R131P Missense 3/9 - 1
6-45390665-T-A c.394T>A p.C132S Missense 3/9 - 1
6-45390666-G-C c.395G>C p.C132S Missense 3/9 - 1
6-45390666-G-T c.395G>T p.C132F Missense 3/9 - 1
6-45390668-AAC-CAA c.397_399delinsCAA p.N133Q Missense 3/9 - 1
6-45390668-AA-GC c.397_398delinsGC p.N133A Missense 3/9 - 2
6-45390668-AA-TT c.397_398inv p.N133F Missense 3/9 - 1
6-45390668-A-T c.397A>T p.N133Y Missense 3/9 - 1
6-45390669-A-T c.398A>T p.N133I Missense 3/9 - 1
6-45390671-AA-GC c.400_401delinsGC p.K134A Missense 3/9 - 4
6-45390671-A-C c.400A>C p.K134Q Missense 3/9 - 1
6-45390672-AG-TC c.401_402delinsTC p.K134I Missense 3/9 - 1
6-45390674-AC-CT c.403_404delinsCT p.T135L Missense 3/9 - 1
6-45390674-A-G c.403A>G p.T135A Missense 3/9 - 2
6-45390677-CT-GC c.406_407delinsGC p.L136A Missense 3/9 - 2
6-45390678-T-C c.407T>C p.L136P Missense 3/9 - 2
6-45390678-T-G c.407T>G p.L136R Missense 3/9 - 1
6-45390680-CC-TG c.409_410delinsTG p.P137C Missense 3/9 - 2
6-45390684-T-C c.413T>C p.V138A Missense 3/9 - 1
6-45390686-GC-TG c.415_416delinsTG p.A139C Missense 3/9 - 1
6-45390689-TT-GC c.418_419delinsGC p.F140A Missense 3/9 - 1
6-45390692-AA-GC c.421_422delinsGC p.K141A Missense 3/9 - 1
6-45390692-A-C c.421A>C p.K141Q Missense 3/9 - 1
6-45390692-A-G c.421A>G p.K141E Missense 3/9 - 3
6-45391943-T-G c.423+1249T>G - IntronicSNV - 3/8 4
6-45393895-A-G c.423+3201A>G - IntronicSNV - 3/8 1
6-45395873-C-T c.424-3727C>T - IntronicSNV - 3/8 1
6-45398157-C-T c.424-1443C>T - IntronicSNV - 3/8 1
6-45399600-G-C c.424G>C p.V142L Missense 4/9 - 1
6-45399600-G-T c.424G>T p.V142L Missense 4/9 - 1
6-45399600-GT-CA c.424_425delinsCA p.V142Q Missense 4/9 - 1
6-45399603-G-A c.427G>A p.V143I Missense 4/9 - 2
6-45399603-G-C c.427G>C p.V143L Missense 4/9 - 1
6-45399603-GGTAGCC-G c.427_432del p.V143_A144del InFrameDeletion 4/9 - 1
6-45399603-G-T c.427G>T p.V143L Missense 4/9 - 1
6-45399603-GTA-AAC c.427_429delinsAAC p.V143N Missense 4/9 - 1
6-45399603-GT-AG c.427_428delinsAG p.V143R Missense 4/9 - 1
6-45399603-GTA-TAT c.427_429delinsTAT p.V143Y Missense 4/9 - 2
6-45399604-T-C c.428T>C p.V143A Missense 4/9 - 1
6-45399604-T-G c.428T>G p.V143G Missense 4/9 - 1
6-45399606-G-A c.430G>A p.A144T Missense 4/9 - 1
6-45399606-GC-TG c.430_431delinsTG p.A144C Missense 4/9 - 1
6-45399606-G-T c.430G>T p.A144S Missense 4/9 - 1
6-45399609-CT-AA c.433_434delinsAA p.L145N Missense 4/9 - 1
6-45399609-CTC-ATG c.433_435delinsATG p.L145M Missense 4/9 - 1
6-45399609-CTC-TAA c.433_435delinsTAA p.L145* Nonsense 4/9 - 1
6-45399609-CT-GA c.433_434delinsGA p.L145D Missense 4/9 - 2
6-45399609-CT-GG c.433_434delinsGG p.L145G Missense 4/9 - 1
6-45399610-T-C c.434T>C p.L145P Missense 4/9 - 2
6-45399612-GGA-AGC c.436_438delinsAGC p.G146S Missense 4/9 - 2
6-45399613-G-T c.437G>T p.G146V Missense 4/9 - 3
6-45399615-G-C c.439G>C p.E147Q Missense 4/9 - 1
6-45399616-A-C c.440A>C p.E147A Missense 4/9 - 2
6-45399618-GT-CC c.442_443delinsCC p.V148P Missense 4/9 - 1
6-45399625-A-C c.449A>C p.D150A Missense 4/9 - 1
6-45399628-GG-AC c.452_453delinsAC p.G151D Missense 4/9 - 1
6-45399630-AC-GG c.454_455delinsGG p.T152G Missense 4/9 - 1
6-45399631-C-T c.455C>T p.T152I Missense 4/9 - 1
6-45399631-CT-AG c.455_456inv p.T152K Missense 4/9 - 2
6-45399633-GTG-ATC c.457_459delinsATC p.V153I Missense 4/9 - 1
6-45399636-G-C c.460G>C p.V154L Missense 4/9 - 1
6-45399637-TT-AG c.461_462delinsAG p.V154E Missense 4/9 - 1
6-45399639-A-C c.463A>C p.T155P Missense 4/9 - 1
6-45399639-AC-GA c.463_464delinsGA p.T155D Missense 4/9 - 1
6-45399639-ACT-GAG c.463_465delinsGAG p.T155E Missense 4/9 - 1
6-45399639-A-G c.463A>G p.T155A Missense 4/9 - 1
6-45399642-G-C c.466G>C p.V156L Missense 4/9 - 1
6-45399642-GTC-AAG c.466_468delinsAAG p.V156K Missense 4/9 - 2
6-45399643-T-C c.467T>C p.V156A Missense 4/9 - 2
6-45399643-TC-AG c.467_468delinsAG p.V156E Missense 4/9 - 2
6-45399644-C-CA c.469dup p.M157Nfs*4 Frameshift 4/9 - 1
6-45399645-A-G c.469A>G p.M157V Missense 4/9 - 2
6-45399645-AT-GC c.469_470delinsGC p.M157A Missense 4/9 - 3
6-45399645-AT-GG c.469_470delinsGG p.M157G Missense 4/9 - 1
6-45399645-A-AT c.470dup p.M157Ifs*4 Frameshift 4/9 - 1
6-45399648-GCG-CAT c.472_474delinsCAT p.A158H Missense 4/9 - 1
6-45399649-C-A c.473C>A p.A158E Missense 4/9 - 3
6-45399649-C-G c.473C>G p.A158G Missense 4/9 - 1
6-45399649-CG-AC c.473_474delinsAC p.A158D Missense 4/9 - 1
6-45399651-G-C c.475G>C p.G159R Missense 4/9 - 1
6-45399651-GG-AC c.475_476delinsAC p.G159T Missense 4/9 - 1
6-45399652-G-A c.476G>A p.G159D Missense 4/9 - 3
6-45399652-G-T c.476G>T p.G159V Missense 4/9 - 1
6-45399654-AA-GC c.478_479delinsGC p.N160A Missense 4/9 - 2
6-45399654-A-T c.478A>T p.N160Y Missense 4/9 - 1
6-45399656-C-A c.480C>A p.N160K Missense 4/9 - 4
6-45399656-C-G c.480C>G p.N160K Missense 4/9 - 4
6-45399657-G-A c.481G>A p.D161N Missense 4/9 - 3
6-45399657-GA-CG c.481_482delinsCG p.D161R Missense 4/9 - 1
6-45399658-A-C c.482A>C p.D161A Missense 4/9 - 3
6-45399660-GA-AC c.484_485delinsAC p.E162T Missense 4/9 - 4
6-45399660-GAA-TGG c.484_486delinsTGG p.E162W Missense 4/9 - 1
6-45399660-GA-CC c.484_485delinsCC p.E162P Missense 4/9 - 1
6-45399660-G-C c.484G>C p.E162Q Missense 4/9 - 2
6-45399661-A-C c.485A>C p.E162A Missense 4/9 - 3
6-45399662-A-C c.486A>C p.E162D Missense 4/9 - 1
6-45399662-A-T c.486A>T p.E162D Missense 4/9 - 1
6-45399663-A-G c.487A>G p.N163D Missense 4/9 - 1
6-45399665-T-G c.489T>G p.N163K Missense 4/9 - 1
6-45399669-TC-AA c.493_494delinsAA p.S165N Missense 4/9 - 2
6-45399669-TC-GG c.493_494delinsGG p.S165G Missense 4/9 - 1
6-45399669-T-G c.493T>G p.S165A Missense 4/9 - 2
6-45399672-GC-AT c.496_497delinsAT p.A166I Missense 4/9 - 1
6-45399672-GCT-AAG c.496_498delinsAAG p.A166K Missense 4/9 - 1
6-45399672-GCT-ATG c.496_498delinsATG p.A166M Missense 4/9 - 1
6-45399673-C-T c.497C>T p.A166V Missense 4/9 - 1
6-45399673-CT-AG c.497_498inv p.A166E Missense 4/9 - 1
6-45399678-C-A c.502C>A p.L168I Missense 4/9 - 1
6-45399678-CT-GC c.502_503delinsGC p.L168A Missense 4/9 - 1
6-45399681-CG-GA c.505_506delinsGA p.R169E Missense 4/9 - 2
6-45399682-G-C c.506G>C p.R169P Missense 4/9 - 1
6-45399684-AA-GG c.508_509delinsGG p.N170G Missense 4/9 - 1
6-45399684-AA-TG c.508_509delinsTG p.N170C Missense 4/9 - 1
6-45399687-G-A c.511G>A p.A171T Missense 4/9 - 2
6-45399687-GC-TT c.511_512delinsTT p.A171F Missense 4/9 - 1
6-45399687-G-T c.511G>T p.A171S Missense 4/9 - 1
6-45399690-T-G c.514T>G p.S172A Missense 4/9 - 2
6-45399691-C-G c.515C>G p.S172C Missense 4/9 - 1
6-45399693-GC-TG c.517_518delinsTG p.A173C Missense 4/9 - 1
6-45399693-G-T c.517G>T p.A173S Missense 4/9 - 1
6-45399696-GTT-ATG c.520_522delinsATG p.V174M Missense 4/9 - 2
6-45399696-GTT-TGG c.520_522delinsTGG p.V174W Missense 4/9 - 1
6-45399697-T-C c.521T>C p.V174A Missense 4/9 - 1
6-45399699-AT-GA c.523_524delinsGA p.M175E Missense 4/9 - 1
6-45399699-AT-GG c.523_524delinsGG p.M175G Missense 4/9 - 1
6-45399700-T-A c.524T>A p.M175K Missense 4/9 - 1
6-45399700-T-G c.524T>G p.M175R Missense 4/9 - 1
6-45399702-AAA-CAT c.526_528delinsCAT p.K176H Missense 4/9 - 1
6-45399702-AA-GC c.526_527delinsGC p.K176A Missense 4/9 - 2
6-45399702-A-G c.526A>G p.K176E Missense 4/9 - 1
6-45399703-A-G c.527A>G p.K176R Missense 4/9 - 1
6-45399705-AA-GC c.529_530delinsGC p.N177A Missense 4/9 - 2
6-45399705-A-G c.529A>G p.N177D Missense 4/9 - 1
6-45399705-A-T c.529A>T p.N177Y Missense 4/9 - 1
6-45399706-A-G c.530A>G p.N177S Missense 4/9 - 1
6-45399706-AC-A c.532del p.Q178Kfs*2 Frameshift 4/9 - 1
6-45399708-CA-GC c.532_533delinsGC p.Q178A Missense 4/9 - 1
6-45399708-C-T c.532C>T p.Q178* Nonsense 4/9 - 1
6-45399711-G-A c.535G>A p.V179I Missense 4/9 - 1
6-45399711-GTA-TGT c.535_537delinsTGT p.V179C Missense 4/9 - 1
6-45399711-GTA-TTT c.535_537delinsTTT p.V179F Missense 4/9 - 1
6-45399712-TA-AC c.536_537delinsAC p.V179D Missense 4/9 - 1
6-45399717-AG-GC c.541_542delinsGC p.R181A Missense 4/9 - 2
6-45399718-G-T c.542G>T p.R181M Missense 4/9 - 1
6-45399720-T-G c.544T>G p.F182V Missense 4/9 - 1
6-45399721-T-C c.545T>C p.F182S Missense 4/9 - 1
6-45399723-AA-CT c.547_548delinsCT p.N183L Missense 4/9 - 1
6-45399723-AA-GC c.547_548delinsGC p.N183A Missense 4/9 - 1
6-45399723-AA-TG c.547_548delinsTG p.N183C Missense 4/9 - 1
6-45399725-C-A c.549C>A p.N183K Missense 4/9 - 1
6-45399725-C-G c.549C>G p.N183K Missense 4/9 - 1
6-45399726-G-A c.550G>A p.D184N Missense 4/9 - 2
6-45399726-GA-CG c.550_551delinsCG p.D184R Missense 4/9 - 1
6-45399729-C-A c.553C>A p.L185M Missense 4/9 - 1
6-45399729-C-G c.553C>G p.L185V Missense 4/9 - 1
6-45399729-CT-GA c.553_554delinsGA p.L185E Missense 4/9 - 1
6-45399729-CT-GC c.553_554delinsGC p.L185A Missense 4/9 - 3
6-45399729-CTG-TTT c.553_555delinsTTT p.L185F Missense 4/9 - 1
6-45399729-CT-TA c.553_554delinsTA p.L185* Nonsense 4/9 - 1
6-45399729-CT-TC c.553_554delinsTC p.L185S Missense 4/9 - 1
6-45399732-AGA-CAT c.556_558delinsCAT p.R186H Missense 4/9 - 1
6-45399732-AGA-TGG c.556_558delinsTGG p.R186W Missense 4/9 - 2
6-45399732-AG-CA c.556_557delinsCA p.R186Q Missense 4/9 - 2
6-45399732-AG-GC c.556_557delinsGC p.R186A Missense 4/9 - 1
6-45399733-G-A c.557G>A p.R186K Missense 4/9 - 1
6-45399733-GA-TG c.557_558delinsTG p.R186M Missense 4/9 - 1
6-45399733-G-C c.557G>C p.R186T Missense 4/9 - 1
6-45399736-T-C c.560T>C p.F187S Missense 4/9 - 1
6-45399738-G-A c.562G>A p.V188M Missense 4/9 - 1
6-45399739-T-A c.563T>A p.V188E Missense 4/9 - 1
6-45399742-GC-AG c.566_567delinsAG p.G189E Missense 4/9 - 2
6-45399744-CG-AA c.568_569delinsAA p.R190K Missense 4/9 - 1
6-45399744-CG-GA c.568_569delinsGA p.R190E Missense 4/9 - 1
6-45399744-CGG-AGC c.568_570delinsAGC p.R190S Missense 4/9 - 6
6-45399744-CG-GC c.568_569delinsGC p.R190A Missense 4/9 - 3
6-45399744-C-T c.568C>T p.R190W Missense 4/9 - 4
6-45399745-G-A c.569G>A p.R190Q Missense 4/9 - 4
6-45399745-G-C c.569G>C p.R190P Missense 4/9 - 2
6-45399747-AG-GC c.571_572delinsGC p.S191A Missense 4/9 - 1
6-45399747-AG-TT c.571_572delinsTT p.S191F Missense 4/9 - 1
6-45399748-G-A c.572G>A p.S191N Missense 4/9 - 1
6-45399751-G-A c.575G>A p.G192E Missense 4/9 - 1
6-45399753-C-A c.577C>A p.R193= Synonymous 4/9 - 1
6-45399753-C-G c.577C>G p.R193G Missense 4/9 - 2
6-45399753-CG-GC c.577_578delinsGC p.R193A Missense 4/9 - 3
6-45399753-C-T c.577C>T p.R193* Nonsense 4/9 - 3
6-45399754-G-A c.578G>A p.R193Q Missense 4/9 - 2
6-45399754-GA-AT c.578_579delinsAT p.R193H Missense 4/9 - 1
6-45399756-G-C c.580G>C p.G194R Missense 4/9 - 1
6-45400394-A-G c.580+638A>G - IntronicSNV - 4/8 1
6-45400940-T-A c.580+1184T>A - IntronicSNV - 4/8 2
6-45403774-C-T c.581-1910C>T - IntronicSNV - 4/8 2
6-45404230-C-T c.581-1454C>T - IntronicSNV - 4/8 1
6-45404528-A-G c.581-1156A>G - IntronicSNV - 4/8 3
6-45405684-G-A c.581G>A p.G194D Missense 5/9 - 1
6-45405686-AA-GC c.583_584delinsGC p.K195A Missense 5/9 - 1
6-45405686-AAG-GAC c.583_585delinsGAC p.K195D Missense 5/9 - 1
6-45405686-A-G c.583A>G p.K195E Missense 5/9 - 1
6-45405689-AG-GC c.586_587delinsGC p.S196A Missense 5/9 - 1
6-45405689-AGT-GAG c.586_588delinsGAG p.S196E Missense 5/9 - 1
6-45405689-A-T c.586A>T p.S196C Missense 5/9 - 1
6-45405690-G-C c.587G>C p.S196T Missense 5/9 - 1
6-45405692-TT-GG c.589_590delinsGG p.F197G Missense 5/9 - 1
6-45405695-AC-GG c.592_593delinsGG p.T198G Missense 5/9 - 1
6-45405693-TCACCTTGAC-T c.593_601del p.T198_T200del InFrameDeletion 5/9 - 1
6-45405698-TT-AA c.595_596inv p.L199K Missense 5/9 - 1
6-45405698-TT-AC c.595_596delinsAC p.L199T Missense 5/9 - 1
6-45405698-TT-CA c.595_596delinsCA p.L199Q Missense 5/9 - 1
6-45405698-TT-CC c.595_596delinsCC p.L199P Missense 5/9 - 2
6-45405698-TTG-ATC c.595_597delinsATC p.L199I Missense 5/9 - 1
6-45405698-TT-GC c.595_596delinsGC p.L199A Missense 5/9 - 1
6-45405699-T-C c.596T>C p.L199S Missense 5/9 - 1
6-45405699-TG-GT c.596_597delinsGT p.L199C Missense 5/9 - 2
6-45405701-AC-CA c.598_599delinsCA p.T200H Missense 5/9 - 3
6-45405701-AC-TT c.598_599delinsTT p.T200F Missense 5/9 - 1
6-45405701-A-G c.598A>G p.T200A Missense 5/9 - 4
6-45405701-A-T c.598A>T p.T200S Missense 5/9 - 2
6-45405702-C-G c.599C>G p.T200S Missense 5/9 - 2
6-45405704-A-G c.601A>G p.I201V Missense 5/9 - 2
6-45405704-ATA-GAC c.601_603delinsGAC p.I201D Missense 5/9 - 1
6-45405704-ATA-TGG c.601_603delinsTGG p.I201W Missense 5/9 - 3
6-45405706-A-G c.603A>G p.I201M Missense 5/9 - 1
6-45405707-AC-GA c.604_605delinsGA p.T202D Missense 5/9 - 1
6-45405707-AC-TA c.604_605delinsTA p.T202Y Missense 5/9 - 1
6-45405707-A-G c.604A>G p.T202A Missense 5/9 - 1
6-45405707-A-T c.604A>T p.T202S Missense 5/9 - 1
6-45405708-CC-GG c.605_606inv p.T202R Missense 5/9 - 1
6-45405708-C-G c.605C>G p.T202S Missense 5/9 - 1
6-45405710-G-A c.607G>A p.V203I Missense 5/9 - 1
6-45405710-GTC-TAA c.607_609delinsTAA p.V203* Nonsense 5/9 - 1
6-45405711-T-C c.608T>C p.V203A Missense 5/9 - 1
6-45405714-T-C c.611T>C p.F204S Missense 5/9 - 1
6-45405716-ACA-TAT c.613_615delinsTAT p.T205Y Missense 5/9 - 1
6-45405716-ACA-TTT c.613_615delinsTTT p.T205F Missense 5/9 - 1
6-45405716-AC-GA c.613_614delinsGA p.T205E Missense 5/9 - 2
6-45405716-AC-GT c.613_614inv p.T205V Missense 5/9 - 2
6-45405716-A-G c.613A>G p.T205A Missense 5/9 - 3
6-45405716-A-T c.613A>T p.T205S Missense 5/9 - 1
6-45405719-AA-GC c.616_617delinsGC p.N206A Missense 5/9 - 2
6-45405720-A-G c.617A>G p.N206S Missense 5/9 - 1
6-45405721-T-A c.618T>A p.N206K Missense 5/9 - 1
6-45405721-T-G c.618T>G p.N206K Missense 5/9 - 1
6-45405722-CC-TG c.619_620delinsTG p.P207C Missense 5/9 - 4
6-45405728-C-G c.625C>G p.Q209E Missense 5/9 - 3
6-45405729-A-G c.626A>G p.Q209R Missense 5/9 - 3
6-45405729-A-T c.626A>T p.Q209L Missense 5/9 - 8
6-45405731-GTA-TGT c.628_630delinsTGT p.V210C Missense 5/9 - 1
6-45405735-C-G c.632C>G p.A211G Missense 5/9 - 1
6-45405735-C-T c.632C>T p.A211V Missense 5/9 - 1
6-45405737-ACC-GAG c.634_636delinsGAG p.T212E Missense 5/9 - 1
6-45405737-ACC-TAA c.634_636delinsTAA p.T212* Nonsense 5/9 - 1
6-45405740-TA-GC c.637_638delinsGC p.Y213A Missense 5/9 - 1
6-45405741-A-C c.638A>C p.Y213S Missense 5/9 - 2
6-45405741-A-T c.638A>T p.Y213F Missense 5/9 - 2
6-45405743-CA-GC c.640_641delinsGC p.H214A Missense 5/9 - 4
6-45405743-C-G c.640C>G p.H214D Missense 5/9 - 1
6-45405744-A-T c.641A>T p.H214L Missense 5/9 - 1
6-45405745-C-A c.642C>A p.H214Q Missense 5/9 - 1
6-45405745-C-G c.642C>G p.H214Q Missense 5/9 - 1
6-45405746-AGA-TGT c.643_645delinsTGT p.R215C Missense 5/9 - 1
6-45405746-AG-GC c.643_644delinsGC p.R215A Missense 5/9 - 3
6-45405747-G-A c.644G>A p.R215K Missense 5/9 - 2
6-45405748-A-C c.645A>C p.R215S Missense 5/9 - 1
6-45405748-A-T c.645A>T p.R215S Missense 5/9 - 1
6-45405749-G-A c.646G>A p.A216T Missense 5/9 - 1
6-45405751-A-C c.648A>C p.A216= Synonymous 5/9 - 1
6-45405751-A-G c.648A>G p.A216= Synonymous 5/9 - 1
6-45405751-A-T c.648A>T p.A216= Synonymous 5/9 - 1
6-45405752-AT-CC c.649_650delinsCC p.I217P Missense 5/9 - 1
6-45405753-T-C c.650T>C p.I217T Missense 5/9 - 1
6-45405755-AA-CT c.652_653delinsCT p.K218L Missense 5/9 - 1
6-45405755-AA-GC c.652_653delinsGC p.K218A Missense 5/9 - 2
6-45405755-A-C c.652A>C p.K218Q Missense 5/9 - 1
6-45405755-A-G c.652A>G p.K218E Missense 5/9 - 2
6-45405758-G-A c.655G>A p.V219I Missense 5/9 - 1
6-45405758-G-C c.655G>C p.V219L Missense 5/9 - 1
6-45405759-T-A c.656T>A p.V219D Missense 5/9 - 1
6-45405761-A-G c.658A>G p.T220A Missense 5/9 - 2
6-45405762-C-T c.659C>T p.T220I Missense 5/9 - 2
6-45405764-GT-AA c.661_662delinsAA p.V221K Missense 5/9 - 1
6-45405767-G-A c.664G>A p.D222N Missense 5/9 - 1
6-45405767-GAT-AAG c.664_666delinsAAG p.D222K Missense 5/9 - 1
6-45405768-A-C c.665A>C p.D222A Missense 5/9 - 11
6-45405769-T-A c.666T>A p.D222E Missense 5/9 - 1
6-45405769-T-G c.666T>G p.D222E Missense 5/9 - 1
6-45405770-GGA-AAC c.667_669delinsAAC p.G223N Missense 5/9 - 1
6-45405776-CG-GC c.673_674delinsGC p.R225A Missense 5/9 - 3
6-45405776-C-T c.673C>T p.R225W Missense 5/9 - 3
6-45405777-G-A c.674G>A p.R225Q Missense 5/9 - 10
6-45405779-G-A c.676G>A p.E226K Missense 5/9 - 1
6-45405779-GA-AT c.676_677delinsAT p.E226I Missense 5/9 - 2
6-45405779-G-C c.676G>C p.E226Q Missense 5/9 - 1
6-45405780-A-C c.677A>C p.E226A Missense 5/9 - 2
6-45405785-AGA-TGG c.682_684delinsTGG p.R228W Missense 5/9 - 1
6-45405785-AG-CA c.682_683delinsCA p.R228Q Missense 5/9 - 2
6-45405785-AG-GA c.682_683delinsGA p.R228E Missense 5/9 - 2
6-45405785-AG-GC c.682_683delinsGC p.R228A Missense 5/9 - 4
6-45405786-G-A c.683G>A p.R228K Missense 5/9 - 1
6-45408440-T-G c.685+2652T>G - IntronicSNV - 5/8 1
6-45410312-T-C c.685+4524T>C - IntronicSNV - 5/8 3
6-45412657-G-A c.685+6869G>A - IntronicSNV - 5/8 1
6-45412657-G-T c.685+6869G>T - IntronicSNV - 5/8 1
6-45417118-T-C c.685+11330T>C - IntronicSNV - 5/8 2
6-45419110-C-A c.685+13322C>A - IntronicSNV - 5/8 1
6-45419110-C-G c.685+13322C>G - IntronicSNV - 5/8 1
6-45419110-C-T c.685+13322C>T - IntronicSNV - 5/8 1
6-45420847-C-T c.685+15059C>T - IntronicSNV - 5/8 1
6-45421048-G-C c.685+15260G>C - IntronicSNV - 5/8 1
6-45421048-G-T c.685+15260G>T - IntronicSNV - 5/8 1
6-45421630-C-T c.685+15842C>T - IntronicSNV - 5/8 1
6-45424940-A-G c.685+19152A>G - IntronicSNV - 5/8 2
6-45424940-A-T c.685+19152A>T - IntronicSNV - 5/8 2
6-45432265-C-G c.685+26477C>G - IntronicSNV - 5/8 2
6-45432265-C-T c.685+26477C>T - IntronicSNV - 5/8 2
6-45434746-C-T c.686-24932C>T - IntronicSNV - 5/8 1
6-45437484-A-G c.686-22194A>G - IntronicSNV - 5/8 1
6-45442450-T-C c.686-17228T>C - IntronicSNV - 5/8 1
6-45443349-T-C c.686-16329T>C - IntronicSNV - 5/8 1
6-45447934-A-T c.686-11744A>T - IntronicSNV - 5/8 1
6-45451836-C-T c.686-7842C>T - IntronicSNV - 5/8 2
6-45453345-G-A c.686-6333G>A - IntronicSNV - 5/8 1
6-45456981-T-C c.686-2697T>C - IntronicSNV - 5/8 2
6-45459678-GG-AC c.686_687delinsAC p.R229N Missense 6/9 - 1
6-45459678-G-T c.686G>T p.R229M Missense 6/9 - 1
6-45459680-CA-GC c.688_689delinsGC p.H230A Missense 6/9 - 2
6-45459683-AGA-CAT c.691_693delinsCAT p.R231H Missense 6/9 - 3
6-45459683-AGA-TAT c.691_693delinsTAT p.R231Y Missense 6/9 - 1
6-45459683-AGA-TGT c.691_693delinsTGT p.R231C Missense 6/9 - 1
6-45459683-AG-CA c.691_692delinsCA p.R231Q Missense 6/9 - 1
6-45459683-AG-GA c.691_692delinsGA p.R231E Missense 6/9 - 2
6-45459683-AG-GC c.691_692delinsGC p.R231A Missense 6/9 - 1
6-45459684-G-A c.692G>A p.R231K Missense 6/9 - 1
6-45459685-A-C c.693A>C p.R231S Missense 6/9 - 1
6-45459685-A-T c.693A>T p.R231S Missense 6/9 - 1
6-45459686-CA-GC c.694_695delinsGC p.Q232A Missense 6/9 - 1
6-45459689-AA-GC c.697_698delinsGC p.K233A Missense 6/9 - 1
6-45459689-AA-TG c.697_698delinsTG p.K233W Missense 6/9 - 1
6-45459689-A-G c.697A>G p.K233E Missense 6/9 - 1
6-45459690-A-G c.698A>G p.K233R Missense 6/9 - 1
6-45459692-C-A c.700C>A p.L234I Missense 6/9 - 6
6-45459692-C-T c.700C>T p.L234F Missense 6/9 - 1
6-45459692-CT-GA c.700_701delinsGA p.L234D Missense 6/9 - 2
6-45459692-CT-GC c.700_701delinsGC p.L234A Missense 6/9 - 7
6-45459692-CT-GG c.700_701delinsGG p.L234G Missense 6/9 - 1
6-45459693-TT-AA c.701_702inv p.L234Q Missense 6/9 - 2
6-45459695-G-A c.703G>A p.D235N Missense 6/9 - 1
6-45459696-A-C c.704A>C p.D235A Missense 6/9 - 1
6-45459697-T-A c.705T>A p.D235E Missense 6/9 - 1
6-45459697-T-G c.705T>G p.D235E Missense 6/9 - 1
6-45459698-G-A c.706G>A p.D236N Missense 6/9 - 1
6-45459699-A-C c.707A>C p.D236A Missense 6/9 - 3
6-45459701-TC-GA c.709_710inv p.S237D Missense 6/9 - 1
6-45459701-T-G c.709T>G p.S237A Missense 6/9 - 1
6-45459702-CT-AA c.710_711delinsAA p.S237* Nonsense 6/9 - 1
6-45459704-AA-GC c.712_713delinsGC p.K238A Missense 6/9 - 3
6-45459706-A-C c.714A>C p.K238N Missense 6/9 - 1
6-45459706-A-T c.714A>T p.K238N Missense 6/9 - 1
6-45459710-AG-GA c.718_719delinsGA p.S240D Missense 6/9 - 1
6-45459713-T-A c.721T>A p.L241M Missense 6/9 - 1
6-45459713-TT-GC c.721_722delinsGC p.L241A Missense 6/9 - 5
6-45459710-AGTTT-A c.722_725del p.L241Sfs*8 Frameshift 6/9 - 2
6-45459714-T-C c.722T>C p.L241S Missense 6/9 - 2
6-45459716-TT-GC c.724_725delinsGC p.F242A Missense 6/9 - 2
6-45459717-T-C c.725T>C p.F242S Missense 6/9 - 1
6-45459719-TC-AA c.727_728delinsAA p.S243N Missense 6/9 - 1
6-45459725-CG-GC c.733_734delinsGC p.R245A Missense 6/9 - 3
6-45459728-C-A c.736C>A p.L246I Missense 6/9 - 1
6-45459728-CTC-ATG c.736_738delinsATG p.L246M Missense 6/9 - 1
6-45459731-AG-GA c.739_740delinsGA p.S247D Missense 6/9 - 1
6-45459731-AG-GC c.739_740delinsGC p.S247A Missense 6/9 - 2
6-45459734-G-A c.742G>A p.D248N Missense 6/9 - 1
6-45459735-A-C c.743A>C p.D248A Missense 6/9 - 4
6-45459740-GGG-AAC c.748_750delinsAAC p.G250N Missense 6/9 - 1
6-45459741-G-A c.749G>A p.G250E Missense 6/9 - 4
6-45459741-G-C c.749G>C p.G250A Missense 6/9 - 2
6-45459743-C-A c.751C>A p.R251S Missense 6/9 - 1
6-45459743-C-G c.751C>G p.R251G Missense 6/9 - 1
6-45459743-CGC-GAG c.751_753delinsGAG p.R251E Missense 6/9 - 1
6-45459743-CG-GC c.751_752delinsGC p.R251A Missense 6/9 - 1
6-45459743-C-T c.751C>T p.R251C Missense 6/9 - 3
6-45459746-AT-GC c.754_755delinsGC p.I252A Missense 6/9 - 1
6-45459746-AT-TG c.754_755delinsTG p.I252C Missense 6/9 - 2
6-45459746-ATT-GAG c.754_756delinsGAG p.I252E Missense 6/9 - 1
6-45459747-TT-GG c.755_756delinsGG p.I252R Missense 6/9 - 1
6-45459750-C-G c.758C>G p.P253R Missense 6/9 - 1
6-45459752-CA-GG c.760_761delinsGG p.H254G Missense 6/9 - 2
6-45459752-C-T c.760C>T p.H254Y Missense 6/9 - 1
6-45459754-T-A c.762T>A p.H254Q Missense 6/9 - 1
6-45459754-T-G c.762T>G p.H254Q Missense 6/9 - 1
6-45459755-CC-TG c.763_764delinsTG p.P255C Missense 6/9 - 1
6-45459758-A-G c.766A>G p.S256G Missense 6/9 - 1
6-45459758-AG-GC c.766_767delinsGC p.S256A Missense 6/9 - 1
6-45459759-G-C c.767G>C p.S256T Missense 6/9 - 1
6-45459764-AGA-TGG c.772_774delinsTGG p.R258W Missense 6/9 - 1
6-45459764-AG-GC c.772_773delinsGC p.R258A Missense 6/9 - 2
6-45459765-G-A c.773G>A p.R258K Missense 6/9 - 1
6-45459767-G-A c.775G>A p.V259I Missense 6/9 - 1
6-45459767-GT-TA c.775_776delinsTA p.V259* Nonsense 6/9 - 1
6-45459768-T-C c.776T>C p.V259A Missense 6/9 - 1
6-45459773-G-A c.781G>A p.V261I Missense 6/9 - 1
6-45459773-TG-T c.781del p.V261Sfs*10 Frameshift 6/9 - 1
6-45459774-T-A c.782T>A p.V261D Missense 6/9 - 1
6-45459774-T-C c.782T>C p.V261A Missense 6/9 - 1
6-45459780-C-T c.788C>T p.P263L Missense 6/9 - 1
6-45459786-AC-TG c.794_795delinsTG p.N265M Missense 6/9 - 1
6-45459791-CG-GA c.799_800delinsGA p.R267E Missense 6/9 - 1
6-45459791-CG-GC c.799_800delinsGC p.R267A Missense 6/9 - 3
6-45459794-CC-GA c.802_803delinsGA p.P268D Missense 6/9 - 1
6-45459797-TCC-GAG c.805_807delinsGAG p.S269E Missense 6/9 - 1
6-45459797-TC-GA c.805_806inv p.S269D Missense 6/9 - 1
6-45459797-T-G c.805T>G p.S269A Missense 6/9 - 3
6-45459798-C-T c.806C>T p.S269F Missense 6/9 - 2
6-45459800-CTG-GAC c.808_810delinsGAC p.L270D Missense 6/9 - 1
6-45459801-T-G c.809T>G p.L270R Missense 6/9 - 1
6-45459804-A-G c.812A>G p.N271S Missense 6/9 - 2
6-45459806-T-G c.814T>G p.S272A Missense 6/9 - 2
6-45459809-G-A c.817G>A p.A273T Missense 6/9 - 1
6-45459815-AG-CC c.823_824delinsCC p.S275P Missense 6/9 - 1
6-45459815-AG-CT c.823_824inv p.S275L Missense 6/9 - 1
6-45459815-AG-GC c.823_824delinsGC p.S275A Missense 6/9 - 1
6-45459815-AG-TT c.823_824delinsTT p.S275F Missense 6/9 - 2
6-45459818-C-T c.826C>T p.P276S Missense 6/9 - 1
6-45459819-C-T c.827C>T p.P276L Missense 6/9 - 1
6-45459829-A-T c.837A>T p.P279= Synonymous 6/9 - 1
6-45459830-CA-AT c.838_839delinsAT p.Q280I Missense 6/9 - 1
6-45459834-G-C c.842G>C p.G281A Missense 6/9 - 1
6-45459836-C-T c.844C>T p.Q282* Nonsense 6/9 - 1
6-45459838-G-C c.846G>C p.Q282H Missense 6/9 - 1
6-45459839-A-G c.847A>G p.S283G Missense 6/9 - 6
6-45459839-AG-CT c.847_848inv p.S283L Missense 6/9 - 1
6-45459839-AG-GA c.847_848delinsGA p.S283D Missense 6/9 - 1
6-45459839-AG-GC c.847_848delinsGC p.S283A Missense 6/9 - 4
6-45459839-AGT-GAG c.847_849delinsGAG p.S283E Missense 6/9 - 1
6-45459840-G-A c.848G>A p.S283N Missense 6/9 - 1
6-45459845-A-G c.853A>G p.I285V Missense 6/9 - 1
6-45459848-ACA-GAC c.856_858delinsGAC p.T286D Missense 6/9 - 4
6-45459848-A-G c.856A>G p.T286A Missense 6/9 - 9
6-45459849-C-T c.857C>T p.T286I Missense 6/9 - 1
6-45459851-G-A c.859G>A p.D287N Missense 6/9 - 1
6-45459847-TACAGGTAAG-T c.859+1_859+9del - SpliceDonorDeletion - 6/8 1
6-45459850-AG-A c.859+1del - Frameshift - 6/8 1
6-45464911-T-G c.859+5060T>G - IntronicSNV - 6/8 1
6-45465753-A-T c.859+5902A>T - IntronicSNV - 6/8 2
6-45469626-C-A c.859+9775C>A - IntronicSNV - 6/8 1
6-45472298-T-C c.860-7685T>C - IntronicSNV - 6/8 1
6-45473256-T-C c.860-6727T>C - IntronicSNV - 6/8 1
6-45479983-A-C c.860A>C p.D287A Missense 7/9 - 2
6-45479986-C-G c.863C>G p.P288R Missense 7/9 - 1
6-45479988-AG-CT c.865_866inv p.R289L Missense 7/9 - 1
6-45479988-AG-GA c.865_866delinsGA p.R289E Missense 7/9 - 1
6-45479988-AG-GC c.865_866delinsGC p.R289A Missense 7/9 - 6
6-45479989-G-A c.866G>A p.R289K Missense 7/9 - 1
6-45479994-GCA-TTT c.871_873delinsTTT p.A291F Missense 7/9 - 1
6-45479997-C-A c.874C>A p.Q292K Missense 7/9 - 1
6-45480001-C-T c.878C>T p.S293F Missense 7/9 - 1
6-45480003-TCC-GAG c.880_882delinsGAG p.S294E Missense 7/9 - 1
6-45480003-T-G c.880T>G p.S294A Missense 7/9 - 2
6-45480004-C-G c.881C>G p.S294C Missense 7/9 - 1
6-45480006-C-T c.883C>T p.P295S Missense 7/9 - 1
6-45480011-G-C c.888G>C p.P296= Synonymous 7/9 - 1
6-45480015-TC-GA c.892_893inv p.S298D Missense 7/9 - 1
6-45480015-T-G c.892T>G p.S298A Missense 7/9 - 3
6-45480018-TA-GC c.895_896delinsGC p.Y299A Missense 7/9 - 2
6-45480019-A-T c.896A>T p.Y299F Missense 7/9 - 2
6-45480020-T-G c.897T>G p.Y299* Nonsense 7/9 - 2
6-45480021-GA-AG c.898_899delinsAG p.D300S Missense 7/9 - 3
6-45480021-G-C c.898G>C p.D300H Missense 7/9 - 1
6-45480022-A-G c.899A>G p.D300G Missense 7/9 - 1
6-45480023-C-A c.900C>A p.D300E Missense 7/9 - 6
6-45480023-C-G c.900C>G p.D300E Missense 7/9 - 6
6-45480024-CA-GC c.901_902delinsGC p.Q301A Missense 7/9 - 1
6-45480025-A-C c.902A>C p.Q301P Missense 7/9 - 1
6-45480027-TC-CG c.904_905delinsCG p.S302R Missense 7/9 - 1
6-45480027-T-G c.904T>G p.S302A Missense 7/9 - 1
6-45480028-C-G c.905C>G p.S302C Missense 7/9 - 4
6-45480036-TC-AA c.913_914delinsAA p.S305N Missense 7/9 - 2
6-45480036-TCC-GAG c.913_915delinsGAG p.S305E Missense 7/9 - 1
6-45480039-TA-GC c.916_917delinsGC p.Y306A Missense 7/9 - 3
6-45480040-A-T c.917A>T p.Y306F Missense 7/9 - 1
6-45480042-CTG-AAC c.919_921delinsAAC p.L307N Missense 7/9 - 1
6-45480042-CT-GC c.919_920delinsGC p.L307A Missense 7/9 - 2
6-45480042-CTG-TTT c.919_921delinsTTT p.L307F Missense 7/9 - 1
6-45480042-C-T c.919C>T p.L307= Synonymous 7/9 - 1
6-45480044-G-A c.921G>A p.L307= Synonymous 7/9 - 1
6-45480044-G-C c.921G>C p.L307= Synonymous 7/9 - 1
6-45480044-G-T c.921G>T p.L307= Synonymous 7/9 - 1
6-45480048-CAG-TAT c.925_927delinsTAT p.Q309Y Missense 7/9 - 1
6-45480051-A-G c.928A>G p.M310V Missense 7/9 - 1
6-45480053-G-A c.930G>A p.M310I Missense 7/9 - 1
6-45480053-G-C c.930G>C p.M310I Missense 7/9 - 1
6-45480053-G-T c.930G>T p.M310I Missense 7/9 - 1
6-45480057-TC-GA c.934_935inv p.S312D Missense 7/9 - 1
6-45480057-T-G c.934T>G p.S312A Missense 7/9 - 3
6-45480060-CC-TG c.937_938delinsTG p.P313W Missense 7/9 - 1
6-45480063-T-A c.940T>A p.S314T Missense 7/9 - 4
6-45480063-T-G c.940T>G p.S314A Missense 7/9 - 1
6-45480064-C-G c.941C>G p.S314C Missense 7/9 - 3
6-45480066-AT-GC c.943_944delinsGC p.I315A Missense 7/9 - 1
6-45480068-C-G c.945C>G p.I315M Missense 7/9 - 1
6-45480070-CA-C c.947del p.H316Pfs*168 Frameshift 7/9 - 1
6-45480072-T-G c.949T>G p.S317A Missense 7/9 - 2
6-45480072-TCTA-T c.951_953del p.T319del InFrameDeletion 7/9 - 1
6-45480075-AC-TA c.952_953delinsTA p.T318Y Missense 7/9 - 1
6-45480075-A-G c.952A>G p.T318A Missense 7/9 - 1
6-45480076-C-T c.953C>T p.T318I Missense 7/9 - 1
6-45480082-C-T c.959C>T p.P320L Missense 7/9 - 1
6-45480084-CTG-TTT c.961_963delinsTTT p.L321F Missense 7/9 - 1
6-45480087-TCT-GAG c.964_966delinsGAG p.S322E Missense 7/9 - 1
6-45480093-ACA-CAT c.970_972delinsCAT p.T324H Missense 7/9 - 1
6-45480093-AC-CT c.970_971delinsCT p.T324L Missense 7/9 - 1
6-45480096-C-T c.973C>T p.R325W Missense 7/9 - 1
6-45480099-G-A c.976G>A p.G326S Missense 7/9 - 1
6-45480100-GC-AG c.977_978delinsAG p.G326E Missense 7/9 - 1
6-45480105-GGG-AGC c.982_984delinsAGC p.G328S Missense 7/9 - 1
6-45480106-G-C c.983G>C p.G328A Missense 7/9 - 1
6-45480117-ATC-GAG c.994_996delinsGAG p.I332E Missense 7/9 - 1
6-45480120-A-C c.997A>C p.T333P Missense 7/9 - 4
6-45480120-AC-CA c.997_998delinsCA p.T333H Missense 7/9 - 2
6-45480120-A-T c.997A>T p.T333S Missense 7/9 - 1
6-45480121-ACCG-A c.998_1000del p.T333_D334delinsN MultiAAMissense 7/9 - 1
6-45480121-C-G c.998C>G p.T333S Missense 7/9 - 1
6-45480123-G-A c.1000G>A p.D334N Missense 7/9 - 1
6-45480123-G-C c.1000G>C p.D334H Missense 7/9 - 1
6-45480125-T-A c.1002T>A p.D334E Missense 7/9 - 1
6-45480125-T-G c.1002T>G p.D334E Missense 7/9 - 1
6-45480126-G-C c.1003G>C p.V335L Missense 7/9 - 1
6-45480126-G-T c.1003G>T p.V335L Missense 7/9 - 1
6-45480126-GTG-ATC c.1003_1005delinsATC p.V335I Missense 7/9 - 1
6-45480129-C-A c.1006C>A p.P336T Missense 7/9 - 1
6-45480130-C-T c.1007C>T p.P336L Missense 7/9 - 1
6-45480132-A-G c.1009A>G p.R337G Missense 7/9 - 1
6-45480132-AG-GA c.1009_1010delinsGA p.R337E Missense 7/9 - 1
6-45480132-AG-GC c.1009_1010delinsGC p.R337A Missense 7/9 - 2
6-45480133-G-A c.1010G>A p.R337K Missense 7/9 - 1
6-45480133-GG-AC c.1010_1011delinsAC p.R337N Missense 7/9 - 1
6-45480134-G-C c.1011G>C p.R337S Missense 7/9 - 1
6-45480134-G-T c.1011G>T p.R337S Missense 7/9 - 1
6-45480135-C-A c.1012C>A p.R338S Missense 7/9 - 1
6-45480135-C-G c.1012C>G p.R338G Missense 7/9 - 1
6-45480135-CGC-TGG c.1012_1014delinsTGG p.R338W Missense 7/9 - 1
6-45480135-CG-GC c.1012_1013delinsGC p.R338A Missense 7/9 - 2
6-45480136-GC-AA c.1013_1014delinsAA p.R338Q Missense 7/9 - 1
6-45480142-TC-T c.1019del p.S340* Frameshift 7/9 - 2
6-45480144-G-A c.1021G>A p.D341N Missense 7/9 - 1
6-45480145-G-T c.1021+1G>T - IntronicSNV - 7/8 1
6-45482458-A-G c.1021+2314A>G - IntronicSNV - 7/8 1
6-45482458-A-T c.1021+2314A>T - IntronicSNV - 7/8 1
6-45486207-C-G c.1021+6063C>G - IntronicSNV - 7/8 2
6-45488758-T-C c.1021+8614T>C - IntronicSNV - 7/8 1
6-45489192-T-A c.1021+9048T>A - IntronicSNV - 7/8 1
6-45493083-C-T c.1021+12939C>T - IntronicSNV - 7/8 2
6-45496456-C-T c.1021+16312C>T - IntronicSNV - 7/8 1
6-45499613-A-AT c.1022-13338dup - IntronicInsertion - 7/8 2
6-45501552-A-G c.1022-11402A>G - IntronicSNV - 7/8 2
6-45501552-A-T c.1022-11402A>T - IntronicSNV - 7/8 2
6-45501937-G-A c.1022-11017G>A - IntronicSNV - 7/8 1
6-45506122-A-G c.1022-6832A>G - IntronicSNV - 7/8 3
6-45507294-G-A c.1022-5660G>A - IntronicSNV - 7/8 2
6-45509824-A-G c.1022-3130A>G - IntronicSNV - 7/8 1
6-45511541-C-T c.1022-1413C>T - IntronicSNV - 7/8 3
6-45511945-G-A c.1022-1009G>A - IntronicSNV - 7/8 2
6-45512215-C-T c.1022-739C>T - IntronicSNV - 7/8 6
6-45512959-G-T c.1027G>T p.D343Y Missense 8/9 - 1
6-45512960-A-C c.1028A>C p.D343A Missense 8/9 - 1
6-45512962-A-G c.1030A>G p.T344A Missense 8/9 - 1
6-45512962-A-T c.1030A>T p.T344S Missense 8/9 - 1
6-45512963-C-G c.1031C>G p.T344S Missense 8/9 - 1
6-45512963-CT-GG c.1031_1032delinsGG p.T344R Missense 8/9 - 1
6-45512963-CT-TG c.1031_1032delinsTG p.T344M Missense 8/9 - 1
6-45512966-C-T c.1034C>T p.A345V Missense 8/9 - 1
6-45512968-AC-TG c.1036_1037delinsTG p.T346C Missense 8/9 - 2
6-45512968-A-G c.1036A>G p.T346A Missense 8/9 - 1
6-45512971-TC-GG c.1039_1040delinsGG p.S347G Missense 8/9 - 3
6-45512971-T-G c.1039T>G p.S347A Missense 8/9 - 3
6-45512972-C-G c.1040C>G p.S347C Missense 8/9 - 1
6-45512977-TT-AA c.1045_1046inv p.F349N Missense 8/9 - 1
6-45512977-TT-GC c.1045_1046delinsGC p.F349A Missense 8/9 - 1
6-45512978-T-G c.1046T>G p.F349C Missense 8/9 - 1
6-45512980-T-A c.1048T>A p.C350S Missense 8/9 - 3
6-45512980-TG-CC c.1048_1049delinsCC p.C350P Missense 8/9 - 2
6-45512980-TG-GC c.1048_1049delinsGC p.C350A Missense 8/9 - 1
6-45512981-G-C c.1049G>C p.C350S Missense 8/9 - 3
6-45512983-C-A c.1051C>A p.L351I Missense 8/9 - 1
6-45512983-C-T c.1051C>T p.L351F Missense 8/9 - 2
6-45512984-T-C c.1052T>C p.L351P Missense 8/9 - 1
6-45512992-T-G c.1060T>G p.S354A Missense 8/9 - 2
6-45512995-A-G c.1063A>G p.T355A Missense 8/9 - 2
6-45512999-T-G c.1067T>G p.L356R Missense 8/9 - 1
6-45513001-AG-CT c.1069_1070inv p.S357L Missense 8/9 - 1
6-45513001-AG-GC c.1069_1070delinsGC p.S357A Missense 8/9 - 1
6-45513004-AA-GC c.1072_1073delinsGC p.K358A Missense 8/9 - 1
6-45513004-AAG-TGT c.1072_1074delinsTGT p.K358C Missense 8/9 - 1
6-45513004-A-C c.1072A>C p.K358Q Missense 8/9 - 1
6-45513004-A-G c.1072A>G p.K358E Missense 8/9 - 1
6-45513004-A-T c.1072A>T p.K358* Nonsense 8/9 - 1
6-45513007-AA-GC c.1075_1076delinsGC p.K359A Missense 8/9 - 3
6-45513007-A-G c.1075A>G p.K359E Missense 8/9 - 1
6-45513008-A-G c.1076A>G p.K359R Missense 8/9 - 1
6-45513010-AG-GC c.1078_1079delinsGC p.S360A Missense 8/9 - 2
6-45513013-C-A c.1081C>A p.Q361K Missense 8/9 - 1
6-45513017-C-T c.1085C>T p.A362V Missense 8/9 - 1
6-45514568-T-A c.1092T>A p.A364= Synonymous 9/9 - 3
6-45514568-T-C c.1092T>C p.A364= Synonymous 9/9 - 3
6-45514568-T-G c.1092T>G p.A364= Synonymous 9/9 - 3
6-45514569-TCA-GAC c.1093_1095delinsGAC p.S365D Missense 9/9 - 3
6-45514569-TC-GA c.1093_1094inv p.S365E Missense 9/9 - 1
6-45514569-T-G c.1093T>G p.S365A Missense 9/9 - 5
6-45514572-GA-AG c.1096_1097delinsAG p.E366R Missense 9/9 - 1
6-45514575-CT-GA c.1099_1100delinsGA p.L367E Missense 9/9 - 1
6-45514578-GG-AA c.1102_1103delinsAA p.G368N Missense 9/9 - 1
6-45514581-C-G c.1105C>G p.P369A Missense 9/9 - 1
6-45514585-T-C c.1109T>C p.F370S Missense 9/9 - 1
6-45514587-T-G c.1111T>G p.S371A Missense 9/9 - 2
6-45514588-CA-GG c.1112_1113delinsGG p.S371W Missense 9/9 - 1
6-45514588-C-T c.1112C>T p.S371L Missense 9/9 - 3
6-45514590-GA-AG c.1114_1115delinsAG p.D372S Missense 9/9 - 1
6-45514590-G-T c.1114G>T p.D372Y Missense 9/9 - 1
6-45514593-C-G c.1117C>G p.P373A Missense 9/9 - 1
6-45514596-AG-GC c.1120_1121delinsGC p.R374A Missense 9/9 - 2
6-45514599-CA-GC c.1123_1124delinsGC p.Q375A Missense 9/9 - 1
6-45514602-TT-GC c.1126_1127delinsGC p.F376A Missense 9/9 - 2
6-45514603-T-C c.1127T>C p.F376S Missense 9/9 - 1
6-45514606-C-G c.1130C>G p.P377R Missense 9/9 - 1
6-45514606-C-T c.1130C>T p.P377L Missense 9/9 - 1
6-45514608-AG-GA c.1132_1133delinsGA p.S378D Missense 9/9 - 1
6-45514608-AG-GC c.1132_1133delinsGC p.S378A Missense 9/9 - 1
6-45514608-A-T c.1132A>T p.S378C Missense 9/9 - 1
6-45514623-AC-TG c.1147_1148delinsTG p.T383C Missense 9/9 - 1
6-45514626-GA-AG c.1150_1151delinsAG p.E384R Missense 9/9 - 1
6-45514627-A-C c.1151A>C p.E384A Missense 9/9 - 3
6-45514629-AG-GC c.1153_1154delinsGC p.S385A Missense 9/9 - 2
6-45514632-CGC-TGG c.1156_1158delinsTGG p.R386W Missense 9/9 - 1
6-45514632-CG-TT c.1156_1157delinsTT p.R386F Missense 9/9 - 1
6-45514638-TC-GG c.1162_1163delinsGG p.S388G Missense 9/9 - 1
6-45514641-AAC-CAA c.1165_1167delinsCAA p.N389Q Missense 9/9 - 1
6-45514647-C-G c.1171C>G p.R391G Missense 9/9 - 1
6-45514647-CG-GC c.1171_1172delinsGC p.R391A Missense 9/9 - 2
6-45514647-C-T c.1171C>T p.R391* Nonsense 9/9 - 6
6-45514648-G-A c.1172G>A p.R391Q Missense 9/9 - 1
6-45514651-T-C c.1175T>C p.M392T Missense 9/9 - 1
6-45514657-A-G c.1181A>G p.Y394C Missense 9/9 - 3
6-45514657-A-T c.1181A>T p.Y394F Missense 9/9 - 2
6-45514659-CC-AA c.1183_1184delinsAA p.P395K Missense 9/9 - 1
6-45514668-TT-GC c.1192_1193delinsGC p.F398A Missense 9/9 - 2
6-45514671-ACT-GAG c.1195_1197delinsGAG p.T399E Missense 9/9 - 1
6-45514671-A-G c.1195A>G p.T399A Missense 9/9 - 1
6-45514677-A-G c.1201A>G p.T401A Missense 9/9 - 1
6-45514680-C-G c.1204C>G p.P402A Missense 9/9 - 3
6-45514677-A-AC c.1205dup p.P403Afs*87 Frameshift 9/9 - 1
6-45514683-CCA-TGT c.1207_1209delinsTGT p.P403C Missense 9/9 - 1
6-45514687-T-C c.1211T>C p.V404A Missense 9/9 - 1
6-45514689-A-C c.1213A>C p.T405P Missense 9/9 - 1
6-45514693-C-T c.1217C>T p.S406L Missense 9/9 - 1
6-45514696-G-C c.1220G>C p.G407A Missense 9/9 - 1
6-45514701-TCC-GAG c.1225_1227delinsGAG p.S409E Missense 9/9 - 1
6-45514701-T-G c.1225T>G p.S409A Missense 9/9 - 2
6-45514704-C-T c.1228C>T p.L410F Missense 9/9 - 1
6-45514704-CTC-GAG c.1228_1230inv p.L410E Missense 9/9 - 1
6-45514704-CTC-TAA c.1228_1230delinsTAA p.L410* Nonsense 9/9 - 1
6-45514707-G-A c.1231G>A p.G411S Missense 9/9 - 1
6-45514707-GG-CC c.1231_1232inv p.G411P Missense 9/9 - 1
6-45514708-G-C c.1232G>C p.G411A Missense 9/9 - 1
6-45514710-ATG-TGT c.1234_1236delinsTGT p.M412C Missense 9/9 - 1
6-45514711-T-A c.1235T>A p.M412K Missense 9/9 - 2
6-45514713-TCC-CAA c.1237_1239delinsCAA p.S413Q Missense 9/9 - 1
6-45514713-T-G c.1237T>G p.S413A Missense 9/9 - 2
6-45514714-C-G c.1238C>G p.S413C Missense 9/9 - 1
6-45514719-AC-GG c.1243_1244delinsGG p.T415G Missense 9/9 - 1
6-45514728-TA-CC c.1252_1253delinsCC p.Y418P Missense 9/9 - 1
6-45514728-TA-GC c.1252_1253delinsGC p.Y418A Missense 9/9 - 1
6-45514735-CC-AG c.1259_1260delinsAG p.T420K Missense 9/9 - 1
6-45514735-C-T c.1259C>T p.T420I Missense 9/9 - 3
6-45514737-T-A c.1261T>A p.Y421N Missense 9/9 - 1
6-45514737-TA-CT c.1261_1262delinsCT p.Y421L Missense 9/9 - 1
6-45514737-TA-GC c.1261_1262delinsGC p.Y421A Missense 9/9 - 1
6-45514737-T-C c.1261T>C p.Y421H Missense 9/9 - 1
6-45514738-AC-GG c.1262_1263delinsGG p.Y421W Missense 9/9 - 1
6-45514738-A-T c.1262A>T p.Y421F Missense 9/9 - 2
6-45514741-T-C c.1265T>C p.L422P Missense 9/9 - 1
6-45514752-TA-GC c.1276_1277delinsGC p.Y426A Missense 9/9 - 2
6-45514753-A-T c.1277A>T p.Y426F Missense 9/9 - 1
6-45514758-G-T c.1282G>T p.G428C Missense 9/9 - 1
6-45514761-T-A c.1285T>A p.S429T Missense 9/9 - 1
6-45514761-T-G c.1285T>G p.S429A Missense 9/9 - 2
6-45514762-C-G c.1286C>G p.S429C Missense 9/9 - 1
6-45514764-T-A c.1288T>A p.S430T Missense 9/9 - 1
6-45514764-T-G c.1288T>G p.S430A Missense 9/9 - 3
6-45514767-CA-GC c.1291_1292delinsGC p.Q431A Missense 9/9 - 1
6-45514768-A-G c.1292A>G p.Q431R Missense 9/9 - 1
6-45514770-A-T c.1294A>T p.S432C Missense 9/9 - 1
6-45514771-G-C c.1295G>C p.S432T Missense 9/9 - 1
6-45514776-AG-GC c.1300_1301delinsGC p.S434A Missense 9/9 - 1
6-45514782-C-G c.1306C>G p.P436A Missense 9/9 - 1
6-45514791-AC-GA c.1315_1316delinsGA p.T439D Missense 9/9 - 1
6-45514791-A-G c.1315A>G p.T439A Missense 9/9 - 1
6-45514794-A-G c.1318A>G p.S440G Missense 9/9 - 1
6-45514794-AG-TT c.1318_1319delinsTT p.S440F Missense 9/9 - 1
6-45514797-AGC-GAG c.1321_1323delinsGAG p.S441E Missense 9/9 - 1
6-45514797-AGC-TGG c.1321_1323delinsTGG p.S441W Missense 9/9 - 1
6-45514807-A-T c.1331A>T p.Y444F Missense 9/9 - 3
6-45514815-TA-GC c.1339_1340delinsGC p.Y447A Missense 9/9 - 1
6-45514819-G-T c.1343G>T p.G448V Missense 9/9 - 2
6-45514821-AC-TG c.1345_1346delinsTG p.T449C Missense 9/9 - 1
6-45514821-AC-TT c.1345_1346delinsTT p.T449F Missense 9/9 - 1
6-45514821-A-G c.1345A>G p.T449A Missense 9/9 - 2
6-45514827-TC-GA c.1351_1352inv p.S451E Missense 9/9 - 1
6-45514827-T-G c.1351T>G p.S451A Missense 9/9 - 3
6-45514828-CA-GT c.1352_1353delinsGT p.S451C Missense 9/9 - 1
6-45514830-GGA-TGT c.1354_1356delinsTGT p.G452C Missense 9/9 - 1
6-45514831-G-A c.1355G>A p.G452E Missense 9/9 - 1
6-45514833-T-C c.1357T>C p.S453P Missense 9/9 - 1
6-45514836-TA-GC c.1360_1361delinsGC p.Y454A Missense 9/9 - 1
6-45514837-A-G c.1361A>G p.Y454C Missense 9/9 - 1
6-45514837-A-T c.1361A>T p.Y454F Missense 9/9 - 1
6-45514842-T-C c.1366T>C p.F456L Missense 9/9 - 2
6-45514842-TT-AA c.1366_1367inv p.F456N Missense 9/9 - 1
6-45514842-TT-GC c.1366_1367delinsGC p.F456A Missense 9/9 - 2
6-45514844-T-A c.1368T>A p.F456L Missense 9/9 - 2
6-45514844-T-G c.1368T>G p.F456L Missense 9/9 - 2
6-45514843-TT-GG c.1367_1368delinsGG p.F456W Missense 9/9 - 1
6-45514845-C-A c.1369C>A p.P457T Missense 9/9 - 1
6-45514846-C-T c.1370C>T p.P457L Missense 9/9 - 1
6-45514851-G-A c.1375G>A p.V459M Missense 9/9 - 1
6-45514851-G-C c.1375G>C p.V459L Missense 9/9 - 1
6-45514851-G-T c.1375G>T p.V459L Missense 9/9 - 1
6-45514851-GT-AC c.1375_1376inv p.V459T Missense 9/9 - 1
6-45514851-GT-CC c.1375_1376delinsCC p.V459P Missense 9/9 - 1
6-45514851-GTG-ATC c.1375_1377delinsATC p.V459I Missense 9/9 - 1
6-45514851-GTG-TAT c.1375_1377delinsTAT p.V459Y Missense 9/9 - 1
6-45514851-GTG-TTT c.1375_1377delinsTTT p.V459F Missense 9/9 - 1
6-45514851-GT-TC c.1375_1376delinsTC p.V459S Missense 9/9 - 1
6-45514851-GT-TG c.1375_1376delinsTG p.V459W Missense 9/9 - 1
6-45514852-T-C c.1376T>C p.V459A Missense 9/9 - 1
6-45514852-T-G c.1376T>G p.V459G Missense 9/9 - 1
6-45514857-G-C c.1381G>C p.G461R Missense 9/9 - 2
6-45514860-G-A c.1384G>A p.G462R Missense 9/9 - 2
6-45514860-G-C c.1384G>C p.G462R Missense 9/9 - 1
6-45514860-G-T c.1384G>T p.G462* Nonsense 9/9 - 2
6-45514855-CG-C c.1385del p.G462Efs*22 Frameshift 9/9 - 1
6-45514861-GA-AC c.1385_1386delinsAC p.G462D Missense 9/9 - 1
6-45514863-GA-TG c.1387_1388delinsTG p.D463C Missense 9/9 - 1
6-45514864-A-C c.1388A>C p.D463A Missense 9/9 - 2
6-45514869-T-G c.1393T>G p.S465A Missense 9/9 - 2
6-45514875-T-G c.1399T>G p.S467A Missense 9/9 - 1
6-45514878-AGA-TGT c.1402_1404delinsTGT p.R468C Missense 9/9 - 1
6-45514884-CTT-ATG c.1408_1410delinsATG p.L470M Missense 9/9 - 1
6-45514896-AC-TG c.1420_1421delinsTG p.T474C Missense 9/9 - 1
6-45514899-A-C c.1423A>C p.T475P Missense 9/9 - 1
6-45514902-A-G c.1426A>G p.T476A Missense 9/9 - 1
6-45514905-T-C c.1429T>C p.S477P Missense 9/9 - 1
6-45514905-TC-AG c.1429_1430delinsAG p.S477R Missense 9/9 - 1
6-45514905-TCG-AAC c.1429_1431delinsAAC p.S477N Missense 9/9 - 7
6-45514905-TCG-ATC c.1429_1431delinsATC p.S477I Missense 9/9 - 1
6-45514905-TC-GG c.1429_1430delinsGG p.S477G Missense 9/9 - 1
6-45514917-A-T c.1441A>T p.T481S Missense 9/9 - 2
6-45514920-CT-TC c.1444_1445delinsTC p.L482S Missense 9/9 - 1
6-45514924-TA-AT c.1448_1449delinsAT p.L483Y Missense 9/9 - 3
6-45514926-A-T c.1450A>T p.N484Y Missense 9/9 - 1
6-45514928-T-A c.1452T>A p.N484K Missense 9/9 - 1
6-45514928-T-G c.1452T>G p.N484K Missense 9/9 - 1
6-45514929-C-A c.1453C>A p.P485T Missense 9/9 - 1
6-45514930-C-G c.1454C>G p.P485R Missense 9/9 - 1
6-45514938-C-T c.1462C>T p.P488S Missense 9/9 - 1
6-45514939-C-T c.1463C>T p.P488L Missense 9/9 - 1
6-45514950-GA-AG c.1474_1475delinsAG p.D492S Missense 9/9 - 1
6-45514950-GAT-ATG c.1474_1476delinsATG p.D492M Missense 9/9 - 1
6-45514960-A-C c.1484A>C p.D495A Missense 9/9 - 1
6-45514965-G-A c.1489G>A p.D497N Missense 9/9 - 1
6-45514968-GGA-CAT c.1492_1494delinsCAT p.G498H Missense 9/9 - 1
6-45514971-AG-GA c.1495_1496delinsGA p.S499D Missense 9/9 - 1
6-45514971-AG-GC c.1495_1496delinsGC p.S499A Missense 9/9 - 3
6-45514971-AG-TT c.1495_1496delinsTT p.S499F Missense 9/9 - 1
6-45514971-A-T c.1495A>T p.S499C Missense 9/9 - 2
6-45514980-A-T c.1504A>T p.S502C Missense 9/9 - 1
6-45514981-G-C c.1505G>C p.S502T Missense 9/9 - 1
6-45514983-TC-CG c.1507_1508delinsCG p.S503R Missense 9/9 - 1
6-45514986-C-A c.1510C>A p.P504T Missense 9/9 - 1
6-45514986-C-T c.1510C>T p.P504S Missense 9/9 - 2
6-45514992-G-C c.1516G>C p.V506L Missense 9/9 - 1
6-45514995-TT-CC c.1519_1520delinsCC p.L507P Missense 9/9 - 1
6-45515001-TC-GG c.1525_1526delinsGG p.S509G Missense 9/9 - 1
6-45515002-C-G c.1526C>G p.S509C Missense 9/9 - 2
6-45515005-AG-A c.1529del p.S510Mfs*69 Frameshift 9/9 - 1
6-45515007-G-A c.1531G>A p.G511S Missense 9/9 - 1
6-45515007-G-C c.1531G>C p.G511R Missense 9/9 - 1
6-45515007-G-T c.1531G>T p.G511C Missense 9/9 - 1
6-45515008-G-C c.1532G>C p.G511A Missense 9/9 - 1
6-45515010-AG-GA c.1534_1535delinsGA p.R512E Missense 9/9 - 1
6-45515010-AG-GC c.1534_1535delinsGC p.R512A Missense 9/9 - 1
6-45515015-G-A c.1539G>A p.M513I Missense 9/9 - 3
6-45515015-G-C c.1539G>C p.M513I Missense 9/9 - 3
6-45515015-G-T c.1539G>T p.M513I Missense 9/9 - 3
6-45515022-T-G c.1546T>G p.S516A Missense 9/9 - 2
6-45515025-GT-G c.1552del p.W518Gfs*61 Frameshift 9/9 - 1
6-45515028-TG-AA c.1552_1553delinsAA p.W518K Missense 9/9 - 2
6-45515089-C-T c.*47C>T - 3-UTRSNV 9/9 - 1
6-45516175-A-T c.*1133A>T - 3-UTRSNV 9/9 - 1
6-45516750-T-C c.*1708T>C - 3-UTRSNV 9/9 - 1
6-45518089-A-C c.*3047A>C - 3-UTRSNV 9/9 - 1
6-45518202-G-A c.*3160G>A - 3-UTRSNV 9/9 - 3
6-45518202-G-C c.*3160G>C - 3-UTRSNV 9/9 - 3
6-45518202-G-T c.*3160G>T - 3-UTRSNV 9/9 - 3