BMPR2

BMPR2 bone morphogenetic protein receptor type 2

Annotation transcript: NM_001204.7

8417 unique variant annotations were identified in 884 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-203241529-G-A c.-669G>A - 5-UTRSNV 1/13 - 5
2-203241623-A-T c.-575A>T - 5-UTRSNV 1/13 - 1
2-203241897-G-A c.-301G>A - 5-UTRSNV 1/13 - 2
2-203242199-T-C c.2T>C p.M1? Missense 1/13 - 1
2-203242205-C-T c.8C>T p.S3F Missense 1/13 - 1
2-203242204-T-TC c.9dup p.S4Lfs*34 Frameshift 1/13 - 2
2-203242208-C-T c.11C>T p.S4L Missense 1/13 - 2
2-203242209-G-T c.12G>T p.S4= Synonymous 1/13 - 1
2-203242211-TGCAGC-T c.16_20del p.Q6Afs*30 Frameshift 1/13 - 1
2-203242213-C-T c.16C>T p.Q6* Nonsense 1/13 - 11
2-203242216-CGG-TGT c.19_21delinsTGT p.R7C Missense 1/13 - 1
2-203242216-GC-G c.19del p.R7Gfs*40 Frameshift 1/13 - 1
2-203242216-CG-C c.21del p.W9Gfs*38 Frameshift 1/13 - 1
2-203242219-CC-TT c.22_23delinsTT p.P8F Missense 1/13 - 1
2-203242220-CCCTGGCGG-C c.23_30del p.P8Rfs*27 Frameshift 1/13 - 1
2-203242220-C-T c.23C>T p.P8L Missense 1/13 - 3
2-203242220-CCTGGCGGGTGCCCTGG-C c.26_41del p.W9Yfs*33 Frameshift 1/13 - 2
2-203242223-G-A c.26G>A p.W9* Nonsense 1/13 - 4
2-203242224-G-A c.27G>A p.W9* Nonsense 1/13 - 9
2-203242225-C-T c.28C>T p.R10W Missense 1/13 - 2
2-203242231-C-G c.34C>G p.P12A Missense 1/13 - 1
2-203242231-C-T c.34C>T p.P12S Missense 1/13 - 1
2-203242232-C-T c.35C>T p.P12L Missense 1/13 - 1
2-203242230-GC-G c.36del p.W13Gfs*34 Frameshift 1/13 - 2
2-203242233-C-A c.36C>A p.P12= Synonymous 1/13 - 1
2-203242233-C-G c.36C>G p.P12= Synonymous 1/13 - 1
2-203242233-C-T c.36C>T p.P12= Synonymous 1/13 - 1
2-203242235-G-A c.38G>A p.W13* Nonsense 1/13 - 7
2-203242236-G-A c.39G>A p.W13* Nonsense 1/13 - 6
2-203242236-G-C c.39G>C p.W13C Missense 1/13 - 1
2-203242236-G-T c.39G>T p.W13C Missense 1/13 - 1
2-203242240-C-G c.43C>G p.P15A Missense 1/13 - 1
2-203242239-AC-A c.44del p.P15Hfs*32 Frameshift 1/13 - 2
2-203242242-A-C c.45A>C p.P15= Synonymous 1/13 - 1
2-203242242-A-G c.45A>G p.P15= Synonymous 1/13 - 3
2-203242242-A-T c.45A>T p.P15= Synonymous 1/13 - 1
2-203242244-G-A c.47G>A p.W16* Nonsense 1/13 - 7
2-203242245-G-A c.48G>A p.W16* Nonsense 1/13 - 10
2-203242245-G-C c.48G>C p.W16C Missense 1/13 - 1
2-203242246-A-G c.49A>G p.T17A Missense 1/13 - 1
2-203242246-A-T c.49A>T p.T17S Missense 1/13 - 1
2-203242247-C-G c.50C>G p.T17S Missense 1/13 - 1
2-203242249-A-C c.52A>C p.I18L Missense 1/13 - 1
2-203242250-T-C c.53T>C p.I18T Missense 1/13 - 1
2-203242250-TC-AG c.53_54delinsAG p.I18K Missense 1/13 - 1
2-203242251-C-T c.54C>T p.I18= Synonymous 1/13 - 1
2-203242250-T-TC c.55dup p.L19Pfs*19 Frameshift 1/13 - 1
2-203242252-C-A c.55C>A p.L19M Missense 1/13 - 2
2-203242252-C-T c.55C>T p.L19= Synonymous 1/13 - 1
2-203242254-G-A c.57G>A p.L19= Synonymous 1/13 - 1
2-203242254-G-C c.57G>C p.L19= Synonymous 1/13 - 1
2-203242254-G-T c.57G>T p.L19= Synonymous 1/13 - 1
2-203242256-T-C c.59T>C p.L20P Missense 1/13 - 1
2-203242258-G-C c.61G>C p.V21L Missense 1/13 - 2
2-203242260-C-CT c.63_64insT p.S22* Nonsense 1/13 - 1
2-203242263-C-T c.66C>T p.S22= Synonymous 1/13 - 2
2-203242264-A-G c.67A>G p.T23A Missense 1/13 - 3
2-203242265-C-A c.68C>A p.T23N Missense 1/13 - 1
2-203242267-G-C c.70G>C p.A24P Missense 1/13 - 1
2-203242267-GC-CA c.70_71delinsCA p.A24Q Missense 1/13 - 1
2-203242267-GCG-CAT c.70_72delinsCAT p.A24H Missense 1/13 - 1
2-203242267-GC-TG c.70_71delinsTG p.A24W Missense 1/13 - 1
2-203242267-G-T c.70G>T p.A24S Missense 1/13 - 1
2-203242264-ACTGCGG-A c.71_76del p.A25_A26del SpliceDonorDeletion 1/13 - 1
2-203242268-C-A c.71C>A p.A24E Missense 1/13 - 4
2-203242268-C-T c.71C>T p.A24V Missense 1/13 - 2
2-203242268-GC-G c.71del p.A24Gfs*23 Frameshift 1/13 - 1
2-203242271-C-A c.74C>A p.A25D Missense 1/13 - 3
2-203242274-G-A c.76+1G>A - IntronicSNV - 1/12 2
2-203242274-G-T c.76+1G>T - IntronicSNV - 1/12 2
2-203242275-T-C c.76+2T>C - IntronicSNV - 1/12 3
2-203242275-T-G c.76+2T>G - IntronicSNV - 1/12 2
2-203242278-G-A c.76+5G>A - IntronicSNV - 1/12 2
2-203242482-C-A c.76+209C>A - IntronicSNV - 1/12 1
2-203242594-C-T c.76+321C>T - IntronicSNV - 1/12 1
2-203242615-A-G c.76+342A>G - IntronicSNV - 1/12 1
2-203244920-A-C c.76+2647A>C - IntronicSNV - 1/12 1
2-203244920-A-G c.76+2647A>G - IntronicSNV - 1/12 1
2-203246304-G-A c.76+4031G>A - IntronicSNV - 1/12 2
2-203246340-T-A c.76+4067T>A - IntronicSNV - 1/12 3
2-203246411-G-A c.76+4138G>A - IntronicSNV - 1/12 2
2-203246615-CAAAA-C c.76+4344_76+4347del - IntronicDeletion - 1/12 1
2-203247699-C-G c.76+5426C>G - IntronicSNV - 1/12 1
2-203247699-C-T c.76+5426C>T - IntronicSNV - 1/12 1
2-203247746-T-G c.76+5473T>G - IntronicSNV - 1/12 1
2-203248349-G-T c.76+6076G>T - IntronicSNV - 1/12 1
2-203251109-G-T c.76+8836G>T - IntronicSNV - 1/12 1
2-203255274-C-T c.76+13001C>T - IntronicSNV - 1/12 1
2-203255485-A-C c.76+13212A>C - IntronicSNV - 1/12 2
2-203258195-T-A c.76+15922T>A - IntronicSNV - 1/12 1
2-203258658-ATT-A c.76+16385_76+16386del - IntronicDeletion - 1/12 1
2-203260683-CA-C c.76+18420del - IntronicDeletion - 1/12 1
2-203266610-G-A c.76+24337G>A - IntronicSNV - 1/12 1
2-203272129-T-A c.76+29856T>A - IntronicSNV - 1/12 1
2-203272129-T-C c.76+29856T>C - IntronicSNV - 1/12 1
2-203273505-C-T c.76+31232C>T - IntronicSNV - 1/12 1
2-203273559-A-G c.76+31286A>G - IntronicSNV - 1/12 1
2-203273885-C-T c.76+31612C>T - IntronicSNV - 1/12 1
2-203278734-T-G c.76+36461T>G - IntronicSNV - 1/12 1
2-203285157-T-G c.76+42884T>G - IntronicSNV - 1/12 2
2-203297068-T-G c.77-32464T>G - IntronicSNV - 1/12 1
2-203300099-C-A c.77-29433C>A - IntronicSNV - 1/12 1
2-203300099-C-T c.77-29433C>T - IntronicSNV - 1/12 1
2-203300131-T-TATATATATAC c.77-29401_77-29400insATATATATAC - IntronicInsertion - 1/12 1
2-203302627-G-A c.77-26905G>A - IntronicSNV - 1/12 1
2-203307729-T-C c.77-21803T>C - IntronicSNV - 1/12 1
2-203309066-G-A c.77-20466G>A - IntronicSNV - 1/12 2
2-203309066-G-T c.77-20466G>T - IntronicSNV - 1/12 2
2-203311122-A-C c.77-18410A>C - IntronicSNV - 1/12 1
2-203313638-T-A c.77-15894T>A - IntronicSNV - 1/12 1
2-203313638-T-C c.77-15894T>C - IntronicSNV - 1/12 1
2-203315612-T-C c.77-13920T>C - IntronicSNV - 1/12 1
2-203322284-T-G c.77-7248T>G - IntronicSNV - 1/12 1
2-203323200-A-C c.77-6332A>C - IntronicSNV - 1/12 1
2-203323200-A-T c.77-6332A>T - IntronicSNV - 1/12 1
2-203323201-T-A c.77-6331T>A - IntronicSNV - 1/12 1
2-203328933-T-A c.77-599T>A - IntronicSNV - 1/12 1
2-203328933-T-C c.77-599T>C - IntronicSNV - 1/12 1
2-203329532-C-A c.77C>A p.A26D Missense 2/13 - 1
2-203329535-CG-GT c.80_81delinsGT p.S27C Missense 2/13 - 1
2-203329535-CG-TT c.80_81delinsTT p.S27F Missense 2/13 - 1
2-203329535-C-T c.80C>T p.S27L Missense 2/13 - 7
2-203329536-G-A c.81G>A p.S27= Synonymous 2/13 - 2
2-203329537-C-T c.82C>T p.Q28* Nonsense 2/13 - 3
2-203329540-AAT-CAA c.85_87delinsCAA p.N29Q Missense 2/13 - 1
2-203329540-GAAT-G c.85_87del p.N29del InFrameDeletion 2/13 - 1
2-203329541-AAT-A c.86_87del p.N29Tfs*8 Frameshift 2/13 - 1
2-203329541-A-G c.86A>G p.N29S Missense 2/13 - 3
2-203329543-C-A c.88C>A p.Q30K Missense 2/13 - 1
2-203329543-C-G c.88C>G p.Q30E Missense 2/13 - 1
2-203329543-C-T c.88C>T p.Q30* Nonsense 2/13 - 2
2-203329546-G-T c.91G>T p.E31* Nonsense 2/13 - 2
2-203329548-A-AT c.93_94insT p.R32Sfs*6 Frameshift 2/13 - 1
2-203329549-C-T c.94C>T p.R32W Missense 2/13 - 2
2-203329550-G-A c.95G>A p.R32Q Missense 2/13 - 2
2-203329550-G-C c.95G>C p.R32P Missense 2/13 - 1
2-203329550-G-T c.95G>T p.R32L Missense 2/13 - 1
2-203329555-T-C c.100T>C p.C34R Missense 2/13 - 5
2-203329558-TG-T c.103del p.A35Rfs*12 Frameshift 2/13 - 1
2-203329559-C-T c.104C>T p.A35V Missense 2/13 - 10
2-203329560-G-A c.105G>A p.A35= Synonymous 2/13 - 2
2-203329560-G-C c.105G>C p.A35= Synonymous 2/13 - 2
2-203329560-G-T c.105G>T p.A35= Synonymous 2/13 - 2
2-203329561-T-G c.106T>G p.F36V Missense 2/13 - 1
2-203329564-AA-GC c.109_110delinsGC p.K37A Missense 2/13 - 1
2-203329565-A-G c.110A>G p.K37R Missense 2/13 - 1
2-203329567-G-T c.112G>T p.D38Y Missense 2/13 - 2
2-203329570-C-T c.115C>T p.P39S Missense 2/13 - 7
2-203329569-TC-T c.116del p.P39Rfs*8 Frameshift 2/13 - 1
2-203329571-C-G c.116C>G p.P39R Missense 2/13 - 1
2-203329571-C-T c.116C>T p.P39L Missense 2/13 - 5
2-203329572-G-A c.117G>A p.P39= Synonymous 2/13 - 1
2-203329573-TA-CC c.118_119delinsCC p.Y40P Missense 2/13 - 1
2-203329573-TA-CG c.118_119delinsCG p.Y40R Missense 2/13 - 1
2-203329573-TA-GG c.118_119delinsGG p.Y40G Missense 2/13 - 1
2-203329573-TAT-CAA c.118_120delinsCAA p.Y40Q Missense 2/13 - 1
2-203329575-T-A c.120T>A p.Y40* Nonsense 2/13 - 1
2-203329575-T-G c.120T>G p.Y40* Nonsense 2/13 - 2
2-203329576-C-T c.121C>T p.Q41* Nonsense 2/13 - 5
2-203329579-C-T c.124C>T p.Q42* Nonsense 2/13 - 2
2-203329580-A-G c.125A>G p.Q42R Missense 2/13 - 4
2-203329582-G-T c.127G>T p.D43Y Missense 2/13 - 1
2-203329585-C-T c.130C>T p.L44F Missense 2/13 - 1
2-203329587-T-A c.132T>A p.L44= Synonymous 2/13 - 1
2-203329587-T-C c.132T>C p.L44= Synonymous 2/13 - 1
2-203329587-T-G c.132T>G p.L44= Synonymous 2/13 - 1
2-203329589-G-C c.134G>C p.G45A Missense 2/13 - 2
2-203329589-GG-AC c.134_135delinsAC p.G45D Missense 2/13 - 1
2-203329591-A-C c.136A>C p.I46L Missense 2/13 - 1
2-203329591-A-T c.136A>T p.I46L Missense 2/13 - 2
2-203329592-T-A c.137T>A p.I46K Missense 2/13 - 1
2-203329593-A-C c.138A>C p.I46= Synonymous 2/13 - 2
2-203329593-A-G c.138A>G p.I46M Missense 2/13 - 1
2-203329593-A-T c.138A>T p.I46= Synonymous 2/13 - 1
2-203329594-GG-AA c.139_140delinsAA p.G47N Missense 2/13 - 1
2-203329595-G-A c.140G>A p.G47D Missense 2/13 - 3
2-203329599-G-C c.144G>C p.E48D Missense 2/13 - 1
2-203329599-G-T c.144G>T p.E48D Missense 2/13 - 2
2-203329600-A-G c.145A>G p.S49G Missense 2/13 - 1
2-203329600-A-C c.145A>C p.S49R Missense 2/13 - 1
2-203329602-T-A c.147T>A p.S49R Missense 2/13 - 1
2-203329602-T-C c.147T>C p.S49= Synonymous 2/13 - 1
2-203329602-T-G c.147T>G p.S49R Missense 2/13 - 2
2-203329603-A-G c.148A>G p.R50G Missense 2/13 - 1
2-203329603-AGA-TGG c.148_150delinsTGG p.R50W Missense 2/13 - 1
2-203329603-AG-CT c.148_149inv p.R50L Missense 2/13 - 1
2-203329605-A-C c.150A>C p.R50S Missense 2/13 - 1
2-203329605-A-T c.150A>T p.R50S Missense 2/13 - 1
2-203329606-A-G c.151A>G p.I51V Missense 2/13 - 1
2-203329610-TC-T c.155del p.S52Ffs*26 Frameshift 2/13 - 1
2-203329606-ATC-A c.156_157del p.H53* Frameshift 2/13 - 3
2-203329611-T-TTAA c.156_157insTAA p.S52_H53ins* InFrameInsertion 2/13 - 1
2-203329612-C-T c.157C>T p.H53Y Missense 2/13 - 1
2-203329613-A-G c.158A>G p.H53R Missense 2/13 - 3
2-203329615-G-T c.160G>T p.E54* Nonsense 2/13 - 1
2-203329618-AA-CC c.163_164delinsCC p.N55P Missense 2/13 - 1
2-203329618-AA-CT c.163_164delinsCT p.N55L Missense 2/13 - 1
2-203329618-AA-GC c.163_164delinsGC p.N55A Missense 2/13 - 1
2-203329618-AA-GG c.163_164delinsGG p.N55G Missense 2/13 - 1
2-203329618-AA-GT c.163_164delinsGT p.N55V Missense 2/13 - 1
2-203329618-AAT-CAA c.163_165delinsCAA p.N55Q Missense 2/13 - 2
2-203329618-AA-TG c.163_164delinsTG p.N55C Missense 2/13 - 1
2-203329618-AAT-GAG c.163_165delinsGAG p.N55E Missense 2/13 - 1
2-203329618-AA-TT c.163_164inv p.N55F Missense 2/13 - 1
2-203329618-AAT-TGG c.163_165delinsTGG p.N55W Missense 2/13 - 1
2-203329618-A-C c.163A>C p.N55H Missense 2/13 - 1
2-203329618-A-G c.163A>G p.N55D Missense 2/13 - 1
2-203329618-A-T c.163A>T p.N55Y Missense 2/13 - 1
2-203329619-A-C c.164A>C p.N55T Missense 2/13 - 1
2-203329619-A-G c.164A>G p.N55S Missense 2/13 - 1
2-203329619-A-T c.164A>T p.N55I Missense 2/13 - 1
2-203329619-AT-GG c.164_165delinsGG p.N55R Missense 2/13 - 1
2-203329619-AT-TG c.164_165delinsTG p.N55M Missense 2/13 - 1
2-203329620-T-A c.165T>A p.N55K Missense 2/13 - 1
2-203329620-T-G c.165T>G p.N55K Missense 2/13 - 1
2-203329621-G-A c.166G>A p.G56R Missense 2/13 - 2
2-203329621-G-C c.166G>C p.G56R Missense 2/13 - 1
2-203329621-GG-AA c.166_167delinsAA p.G56K Missense 2/13 - 1
2-203329621-GG-AC c.166_167delinsAC p.G56T Missense 2/13 - 1
2-203329621-GG-AT c.166_167delinsAT p.G56M Missense 2/13 - 1
2-203329621-GG-CA c.166_167delinsCA p.G56Q Missense 2/13 - 1
2-203329621-GG-CC c.166_167inv p.G56P Missense 2/13 - 1
2-203329621-GG-CT c.166_167delinsCT p.G56L Missense 2/13 - 1
2-203329621-GGG-AAC c.166_168delinsAAC p.G56N Missense 2/13 - 1
2-203329621-GGG-AGC c.166_168delinsAGC p.G56S Missense 2/13 - 1
2-203329621-GGG-ATC c.166_168delinsATC p.G56I Missense 2/13 - 1
2-203329621-GGG-CAT c.166_168delinsCAT p.G56H Missense 2/13 - 1
2-203329621-GGG-TAT c.166_168delinsTAT p.G56Y Missense 2/13 - 1
2-203329621-GGG-TGT c.166_168delinsTGT p.G56C Missense 2/13 - 1
2-203329621-GGG-TTT c.166_168delinsTTT p.G56F Missense 2/13 - 1
2-203329621-G-T c.166G>T p.G56W Missense 2/13 - 1
2-203329622-G-A c.167G>A p.G56E Missense 2/13 - 1
2-203329622-G-C c.167G>C p.G56A Missense 2/13 - 1
2-203329622-GG-AC c.167_168delinsAC p.G56D Missense 2/13 - 1
2-203329622-G-T c.167G>T p.G56V Missense 2/13 - 1
2-203329620-TG-T c.168del p.T57Qfs*21 Frameshift 2/13 - 1
2-203329624-A-C c.169A>C p.T57P Missense 2/13 - 1
2-203329624-ACA-CAT c.169_171delinsCAT p.T57H Missense 2/13 - 1
2-203329624-ACA-GAC c.169_171delinsGAC p.T57D Missense 2/13 - 1
2-203329624-ACA-TAT c.169_171delinsTAT p.T57Y Missense 2/13 - 1
2-203329624-ACA-TGG c.169_171delinsTGG p.T57W Missense 2/13 - 1
2-203329624-ACA-TGT c.169_171inv p.T57C Missense 2/13 - 1
2-203329624-ACA-TTT c.169_171delinsTTT p.T57F Missense 2/13 - 1
2-203329624-AC-CA c.169_170delinsCA p.T57Q Missense 2/13 - 1
2-203329624-AC-CT c.169_170delinsCT p.T57L Missense 2/13 - 1
2-203329624-AC-GA c.169_170delinsGA p.T57E Missense 2/13 - 1
2-203329624-AC-GG c.169_170delinsGG p.T57G Missense 2/13 - 1
2-203329624-AC-GT c.169_170inv p.T57V Missense 2/13 - 1
2-203329624-A-G c.169A>G p.T57A Missense 2/13 - 1
2-203329624-A-T c.169A>T p.T57S Missense 2/13 - 2
2-203329625-C-A c.170C>A p.T57K Missense 2/13 - 1
2-203329625-CA-AC c.170_171delinsAC p.T57N Missense 2/13 - 1
2-203329625-CA-TG c.170_171inv p.T57M Missense 2/13 - 1
2-203329625-C-G c.170C>G p.T57R Missense 2/13 - 1
2-203329625-C-T c.170C>T p.T57I Missense 2/13 - 2
2-203329627-A-C c.172A>C p.I58L Missense 2/13 - 2
2-203329627-A-G c.172A>G p.I58V Missense 2/13 - 2
2-203329627-A-T c.172A>T p.I58L Missense 2/13 - 2
2-203329627-ATA-CAT c.172_174delinsCAT p.I58H Missense 2/13 - 1
2-203329627-ATA-GAC c.172_174delinsGAC p.I58D Missense 2/13 - 1
2-203329627-ATA-TAT c.172_174inv p.I58Y Missense 2/13 - 1
2-203329627-ATA-TGG c.172_174delinsTGG p.I58W Missense 2/13 - 1
2-203329627-ATA-TGT c.172_174delinsTGT p.I58C Missense 2/13 - 1
2-203329627-ATA-TTT c.172_174delinsTTT p.I58F Missense 2/13 - 1
2-203329627-AT-CA c.172_173delinsCA p.I58Q Missense 2/13 - 1
2-203329627-AT-CC c.172_173delinsCC p.I58P Missense 2/13 - 1
2-203329627-AT-GA c.172_173delinsGA p.I58E Missense 2/13 - 1
2-203329627-AT-GC c.172_173delinsGC p.I58A Missense 2/13 - 1
2-203329627-AT-GG c.172_173delinsGG p.I58G Missense 2/13 - 1
2-203329628-T-A c.173T>A p.I58K Missense 2/13 - 1
2-203329628-TA-AC c.173_174delinsAC p.I58N Missense 2/13 - 1
2-203329628-TA-GC c.173_174delinsGC p.I58S Missense 2/13 - 1
2-203329628-T-C c.173T>C p.I58T Missense 2/13 - 1
2-203329628-T-G c.173T>G p.I58R Missense 2/13 - 1
2-203329629-A-G c.174A>G p.I58M Missense 2/13 - 3
2-203329630-T-A c.175T>A p.L59I Missense 2/13 - 1
2-203329630-T-G c.175T>G p.L59V Missense 2/13 - 1
2-203329630-TT-AA c.175_176inv p.L59K Missense 2/13 - 1
2-203329630-TTA-AAC c.175_177delinsAAC p.L59N Missense 2/13 - 1
2-203329630-TTA-ATG c.175_177delinsATG p.L59M Missense 2/13 - 1
2-203329630-TT-AC c.175_176delinsAC p.L59T Missense 2/13 - 1
2-203329630-TTA-CAT c.175_177delinsCAT p.L59H Missense 2/13 - 1
2-203329630-TT-AG c.175_176delinsAG p.L59R Missense 2/13 - 1
2-203329630-TTA-GAC c.175_177delinsGAC p.L59D Missense 2/13 - 1
2-203329630-TT-CA c.175_176delinsCA p.L59Q Missense 2/13 - 1
2-203329630-TT-CC c.175_176delinsCC p.L59P Missense 2/13 - 1
2-203329630-TT-GA c.175_176delinsGA p.L59E Missense 2/13 - 1
2-203329630-TT-GC c.175_176delinsGC p.L59A Missense 2/13 - 1
2-203329630-TT-GG c.175_176delinsGG p.L59G Missense 2/13 - 1
2-203329631-TA-AT c.176_177delinsAT p.L59Y Missense 2/13 - 2
2-203329631-TA-GG c.176_177delinsGG p.L59W Missense 2/13 - 1
2-203329631-TA-GT c.176_177delinsGT p.L59C Missense 2/13 - 1
2-203329631-T-C c.176T>C p.L59S Missense 2/13 - 1
2-203329632-A-C c.177A>C p.L59F Missense 2/13 - 1
2-203329632-A-T c.177A>T p.L59F Missense 2/13 - 1
2-203329633-T-A c.178T>A p.C60S Missense 2/13 - 2
2-203329633-T-C c.178T>C p.C60R Missense 2/13 - 7
2-203329633-T-G c.178T>G p.C60G Missense 2/13 - 4
2-203329633-TG-AA c.178_179delinsAA p.C60N Missense 2/13 - 1
2-203329633-TG-AC c.178_179delinsAC p.C60T Missense 2/13 - 1
2-203329633-TG-AT c.178_179delinsAT p.C60I Missense 2/13 - 1
2-203329633-TG-CA c.178_179inv p.C60H Missense 2/13 - 1
2-203329633-TGC-AAG c.178_180delinsAAG p.C60K Missense 2/13 - 1
2-203329633-TGC-ATG c.178_180delinsATG p.C60M Missense 2/13 - 1
2-203329633-TG-CC c.178_179delinsCC p.C60P Missense 2/13 - 1
2-203329633-TGC-CAA c.178_180delinsCAA p.C60Q Missense 2/13 - 1
2-203329633-TGC-GAG c.178_180delinsGAG p.C60E Missense 2/13 - 1
2-203329633-TG-CT c.178_179delinsCT p.C60L Missense 2/13 - 1
2-203329633-TG-GA c.178_179delinsGA p.C60D Missense 2/13 - 1
2-203329633-TG-GC c.178_179delinsGC p.C60A Missense 2/13 - 1
2-203329633-TG-GT c.178_179delinsGT p.C60V Missense 2/13 - 1
2-203329634-G-C c.179G>C p.C60S Missense 2/13 - 2
2-203329634-G-A c.179G>A p.C60Y Missense 2/13 - 9
2-203329634-G-T c.179G>T p.C60F Missense 2/13 - 1
2-203329635-C-A c.180C>A p.C60* Nonsense 2/13 - 1
2-203329635-C-G c.180C>G p.C60W Missense 2/13 - 1
2-203329636-T-A c.181T>A p.S61T Missense 2/13 - 3
2-203329636-T-C c.181T>C p.S61P Missense 2/13 - 1
2-203329636-TC-AA c.181_182delinsAA p.S61K Missense 2/13 - 1
2-203329636-TC-AG c.181_182delinsAG p.S61R Missense 2/13 - 1
2-203329636-TC-AT c.181_182delinsAT p.S61M Missense 2/13 - 1
2-203329636-TC-CA c.181_182delinsCA p.S61Q Missense 2/13 - 1
2-203329636-TC-GA c.181_182inv p.S61E Missense 2/13 - 1
2-203329636-TCG-AAC c.181_183delinsAAC p.S61N Missense 2/13 - 1
2-203329636-TCG-ATC c.181_183delinsATC p.S61I Missense 2/13 - 1
2-203329636-TCG-CAT c.181_183delinsCAT p.S61H Missense 2/13 - 1
2-203329636-TC-GG c.181_182delinsGG p.S61G Missense 2/13 - 1
2-203329636-TCG-GAC c.181_183delinsGAC p.S61D Missense 2/13 - 1
2-203329636-TC-GT c.181_182delinsGT p.S61V Missense 2/13 - 1
2-203329636-T-G c.181T>G p.S61A Missense 2/13 - 1
2-203329637-C-G c.182C>G p.S61W Missense 2/13 - 1
2-203329637-CG-AT c.182_183delinsAT p.S61Y Missense 2/13 - 1
2-203329637-CG-GT c.182_183delinsGT p.S61C Missense 2/13 - 1
2-203329637-CG-TT c.182_183delinsTT p.S61F Missense 2/13 - 1
2-203329637-C-T c.182C>T p.S61L Missense 2/13 - 4
2-203329638-G-A c.183G>A p.S61= Synonymous 2/13 - 1
2-203329638-G-C c.183G>C p.S61= Synonymous 2/13 - 1
2-203329638-G-T c.183G>T p.S61= Synonymous 2/13 - 1
2-203329639-AAA-CAT c.184_186delinsCAT p.K62H Missense 2/13 - 1
2-203329639-AAA-GAC c.184_186delinsGAC p.K62D Missense 2/13 - 1
2-203329639-AAA-TAT c.184_186delinsTAT p.K62Y Missense 2/13 - 1
2-203329639-AAA-TGG c.184_186delinsTGG p.K62W Missense 2/13 - 1
2-203329639-AAA-TGT c.184_186delinsTGT p.K62C Missense 2/13 - 1
2-203329639-AAA-TTT c.184_186inv p.K62F Missense 2/13 - 1
2-203329639-AA-CC c.184_185delinsCC p.K62P Missense 2/13 - 1
2-203329639-AA-CT c.184_185delinsCT p.K62L Missense 2/13 - 1
2-203329639-AA-GC c.184_185delinsGC p.K62A Missense 2/13 - 1
2-203329639-AA-GG c.184_185delinsGG p.K62G Missense 2/13 - 1
2-203329639-AA-GT c.184_185delinsGT p.K62V Missense 2/13 - 1
2-203329639-A-C c.184A>C p.K62Q Missense 2/13 - 1
2-203329639-A-G c.184A>G p.K62E Missense 2/13 - 2
2-203329640-AA-GC c.185_186delinsGC p.K62S Missense 2/13 - 1
2-203329640-AA-TG c.185_186delinsTG p.K62M Missense 2/13 - 1
2-203329640-A-C c.185A>C p.K62T Missense 2/13 - 1
2-203329640-A-G c.185A>G p.K62R Missense 2/13 - 1
2-203329640-A-T c.185A>T p.K62I Missense 2/13 - 1
2-203329638-G-GA c.186dup p.G63Rfs*2 Frameshift 2/13 - 1
2-203329640-A-AAT c.186_187insTA p.G63* Nonsense 2/13 - 1
2-203329641-A-ATACC c.186_187insTACC p.G63Yfs*3 Frameshift 2/13 - 1
2-203329641-A-C c.186A>C p.K62N Missense 2/13 - 1
2-203329641-A-T c.186A>T p.K62N Missense 2/13 - 1
2-203329642-AGG-A c.187_188del p.G63* Frameshift 2/13 - 1
2-203329642-G-A c.187G>A p.G63S Missense 2/13 - 2
2-203329642-G-C c.187G>C p.G63R Missense 2/13 - 2
2-203329642-GG-AA c.187_188delinsAA p.G63N Missense 2/13 - 1
2-203329642-GG-AC c.187_188delinsAC p.G63T Missense 2/13 - 1
2-203329642-GG-AT c.187_188delinsAT p.G63I Missense 2/13 - 1
2-203329642-GG-CA c.187_188delinsCA p.G63H Missense 2/13 - 1
2-203329642-GG-CC c.187_188inv p.G63P Missense 2/13 - 1
2-203329642-GG-CT c.187_188delinsCT p.G63L Missense 2/13 - 1
2-203329642-GG-TA c.187_188delinsTA p.G63Y Missense 2/13 - 1
2-203329642-GGT-AAG c.187_189delinsAAG p.G63K Missense 2/13 - 1
2-203329642-GGT-ATG c.187_189delinsATG p.G63M Missense 2/13 - 1
2-203329642-GGT-CAA c.187_189delinsCAA p.G63Q Missense 2/13 - 1
2-203329642-GG-TT c.187_188delinsTT p.G63F Missense 2/13 - 1
2-203329642-GGT-TGG c.187_189delinsTGG p.G63W Missense 2/13 - 1
2-203329642-G-T c.187G>T p.G63C Missense 2/13 - 1
2-203329643-G-A c.188G>A p.G63D Missense 2/13 - 2
2-203329643-G-C c.188G>C p.G63A Missense 2/13 - 1
2-203329643-G-T c.188G>T p.G63V Missense 2/13 - 1
2-203329643-GT-AG c.188_189delinsAG p.G63E Missense 2/13 - 1
2-203329642-GGTAGCACCTGCTATGGCCTTT-G c.189_209del p.S64_W70del InFrameDeletion 2/13 - 1
2-203329643-G-GT c.189dup p.S64* Nonsense 2/13 - 1
2-203329645-A-C c.190A>C p.S64R Missense 2/13 - 3
2-203329645-A-G c.190A>G p.S64G Missense 2/13 - 3
2-203329645-AG-CA c.190_191delinsCA p.S64H Missense 2/13 - 1
2-203329645-AG-CC c.190_191delinsCC p.S64P Missense 2/13 - 1
2-203329645-AGC-CAA c.190_192delinsCAA p.S64Q Missense 2/13 - 1
2-203329645-AGC-GAG c.190_192delinsGAG p.S64E Missense 2/13 - 1
2-203329645-AG-CT c.190_191inv p.S64L Missense 2/13 - 1
2-203329645-AGC-TGG c.190_192delinsTGG p.S64W Missense 2/13 - 1
2-203329645-AG-GA c.190_191delinsGA p.S64D Missense 2/13 - 1
2-203329645-AG-GC c.190_191delinsGC p.S64A Missense 2/13 - 1
2-203329645-AG-GT c.190_191delinsGT p.S64V Missense 2/13 - 1
2-203329645-AG-TA c.190_191delinsTA p.S64Y Missense 2/13 - 1
2-203329645-AG-TT c.190_191delinsTT p.S64F Missense 2/13 - 1
2-203329645-A-T c.190A>T p.S64C Missense 2/13 - 1
2-203329645-TAGCACCTGCTATGGCCTTTGG-T c.190_210del p.S64_W70del InFrameDeletion 2/13 - 1
2-203329646-G-A c.191G>A p.S64N Missense 2/13 - 1
2-203329646-G-C c.191G>C p.S64T Missense 2/13 - 1
2-203329646-GC-AG c.191_192delinsAG p.S64K Missense 2/13 - 1
2-203329646-GC-TG c.191_192delinsTG p.S64M Missense 2/13 - 1
2-203329646-G-T c.191G>T p.S64I Missense 2/13 - 1
2-203329647-C-A c.192C>A p.S64R Missense 2/13 - 1
2-203329647-C-G c.192C>G p.S64R Missense 2/13 - 2
2-203329648-A-C c.193A>C p.T65P Missense 2/13 - 1
2-203329648-AC-CA c.193_194delinsCA p.T65H Missense 2/13 - 1
2-203329648-ACC-CAA c.193_195delinsCAA p.T65Q Missense 2/13 - 1
2-203329648-ACC-GAG c.193_195delinsGAG p.T65E Missense 2/13 - 1
2-203329648-AC-CT c.193_194delinsCT p.T65L Missense 2/13 - 1
2-203329648-ACC-TGG c.193_195delinsTGG p.T65W Missense 2/13 - 1
2-203329648-AC-GA c.193_194delinsGA p.T65D Missense 2/13 - 1
2-203329648-AC-GG c.193_194delinsGG p.T65G Missense 2/13 - 1
2-203329648-AC-GT c.193_194inv p.T65V Missense 2/13 - 1
2-203329648-AC-TA c.193_194delinsTA p.T65Y Missense 2/13 - 1
2-203329648-AC-TG c.193_194delinsTG p.T65C Missense 2/13 - 1
2-203329648-AC-TT c.193_194delinsTT p.T65F Missense 2/13 - 1
2-203329648-A-G c.193A>G p.T65A Missense 2/13 - 1
2-203329648-A-T c.193A>T p.T65S Missense 2/13 - 2
2-203329649-C-A c.194C>A p.T65N Missense 2/13 - 1
2-203329649-CC-AG c.194_195delinsAG p.T65K Missense 2/13 - 1
2-203329649-CC-GG c.194_195inv p.T65R Missense 2/13 - 1
2-203329649-CC-TG c.194_195delinsTG p.T65M Missense 2/13 - 1
2-203329649-C-G c.194C>G p.T65S Missense 2/13 - 3
2-203329649-C-T c.194C>T p.T65I Missense 2/13 - 1
2-203329650-C-T c.195C>T p.T65= Synonymous 2/13 - 1
2-203329651-T-A c.196T>A p.C66S Missense 2/13 - 1
2-203329651-T-C c.196T>C p.C66R Missense 2/13 - 5
2-203329651-T-G c.196T>G p.C66G Missense 2/13 - 4
2-203329651-TG-AA c.196_197delinsAA p.C66N Missense 2/13 - 1
2-203329651-TG-AC c.196_197delinsAC p.C66T Missense 2/13 - 1
2-203329651-TG-AT c.196_197delinsAT p.C66I Missense 2/13 - 1
2-203329651-TG-CA c.196_197inv p.C66H Missense 2/13 - 1
2-203329651-TGC-AAG c.196_198delinsAAG p.C66K Missense 2/13 - 1
2-203329651-TGC-ATG c.196_198delinsATG p.C66M Missense 2/13 - 1
2-203329651-TG-CC c.196_197delinsCC p.C66P Missense 2/13 - 1
2-203329651-TGC-CAA c.196_198delinsCAA p.C66Q Missense 2/13 - 1
2-203329651-TGC-GAG c.196_198delinsGAG p.C66E Missense 2/13 - 2
2-203329651-TG-CT c.196_197delinsCT p.C66L Missense 2/13 - 1
2-203329651-TG-GA c.196_197delinsGA p.C66D Missense 2/13 - 1
2-203329651-TG-GC c.196_197delinsGC p.C66A Missense 2/13 - 1
2-203329651-TG-GT c.196_197delinsGT p.C66V Missense 2/13 - 1
2-203329652-G-C c.197G>C p.C66S Missense 2/13 - 1
2-203329652-G-A c.197G>A p.C66Y Missense 2/13 - 3
2-203329652-G-T c.197G>T p.C66F Missense 2/13 - 2
2-203329653-C-G c.198C>G p.C66W Missense 2/13 - 1
2-203329654-T-A c.199T>A p.Y67N Missense 2/13 - 1
2-203329654-TA-AC c.199_200delinsAC p.Y67T Missense 2/13 - 1
2-203329654-TA-AT c.199_200delinsAT p.Y67I Missense 2/13 - 1
2-203329654-TA-CC c.199_200delinsCC p.Y67P Missense 2/13 - 1
2-203329654-TA-CG c.199_200delinsCG p.Y67R Missense 2/13 - 1
2-203329654-TA-CT c.199_200delinsCT p.Y67L Missense 2/13 - 1
2-203329654-TA-GC c.199_200delinsGC p.Y67A Missense 2/13 - 1
2-203329654-TA-GG c.199_200delinsGG p.Y67G Missense 2/13 - 1
2-203329654-TA-GT c.199_200delinsGT p.Y67V Missense 2/13 - 1
2-203329654-TAT-AAG c.199_201delinsAAG p.Y67K Missense 2/13 - 1
2-203329654-TAT-ATG c.199_201delinsATG p.Y67M Missense 2/13 - 1
2-203329654-TAT-CAA c.199_201delinsCAA p.Y67Q Missense 2/13 - 1
2-203329654-TAT-GAG c.199_201delinsGAG p.Y67E Missense 2/13 - 1
2-203329654-T-C c.199T>C p.Y67H Missense 2/13 - 2
2-203329654-T-G c.199T>G p.Y67D Missense 2/13 - 1
2-203329654-T-TA c.200dup p.Y67* Nonsense 2/13 - 1
2-203329655-A-C c.200A>C p.Y67S Missense 2/13 - 1
2-203329655-A-G c.200A>G p.Y67C Missense 2/13 - 10
2-203329655-A-T c.200A>T p.Y67F Missense 2/13 - 1
2-203329655-AT-GG c.200_201delinsGG p.Y67W Missense 2/13 - 1
2-203329656-T-A c.201T>A p.Y67* Nonsense 2/13 - 2
2-203329656-T-G c.201T>G p.Y67* Nonsense 2/13 - 1
2-203329657-G-A c.202G>A p.G68S Missense 2/13 - 3
2-203329657-G-C c.202G>C p.G68R Missense 2/13 - 1
2-203329657-GG-AA c.202_203delinsAA p.G68N Missense 2/13 - 1
2-203329657-GG-AC c.202_203delinsAC p.G68T Missense 2/13 - 1
2-203329657-GG-AT c.202_203delinsAT p.G68I Missense 2/13 - 1
2-203329657-GG-CA c.202_203delinsCA p.G68H Missense 2/13 - 1
2-203329657-GGC-AAG c.202_204delinsAAG p.G68K Missense 2/13 - 1
2-203329657-GGC-ATG c.202_204delinsATG p.G68M Missense 2/13 - 1
2-203329657-GG-CC c.202_203inv p.G68P Missense 2/13 - 1
2-203329657-GGC-CAA c.202_204delinsCAA p.G68Q Missense 2/13 - 1
2-203329657-GG-CT c.202_203delinsCT p.G68L Missense 2/13 - 1
2-203329657-GGC-TGG c.202_204delinsTGG p.G68W Missense 2/13 - 1
2-203329657-GG-TA c.202_203delinsTA p.G68Y Missense 2/13 - 1
2-203329657-GG-TT c.202_203delinsTT p.G68F Missense 2/13 - 1
2-203329657-G-T c.202G>T p.G68C Missense 2/13 - 1
2-203329658-G-A c.203G>A p.G68D Missense 2/13 - 7
2-203329658-G-C c.203G>C p.G68A Missense 2/13 - 1
2-203329658-GC-AG c.203_204delinsAG p.G68E Missense 2/13 - 1
2-203329658-G-T c.203G>T p.G68V Missense 2/13 - 1
2-203329660-C-A c.205C>A p.L69I Missense 2/13 - 4
2-203329660-C-G c.205C>G p.L69V Missense 2/13 - 1
2-203329660-C-T c.205C>T p.L69F Missense 2/13 - 1
2-203329660-CT-AA c.205_206delinsAA p.L69N Missense 2/13 - 1
2-203329660-CT-AC c.205_206delinsAC p.L69T Missense 2/13 - 1
2-203329660-CT-AG c.205_206inv p.L69S Missense 2/13 - 1
2-203329660-CT-GA c.205_206delinsGA p.L69D Missense 2/13 - 1
2-203329660-CT-GC c.205_206delinsGC p.L69A Missense 2/13 - 1
2-203329660-CT-GG c.205_206delinsGG p.L69G Missense 2/13 - 1
2-203329660-CT-TA c.205_206delinsTA p.L69Y Missense 2/13 - 1
2-203329660-CTT-AAG c.205_207inv p.L69K Missense 2/13 - 1
2-203329660-CTT-ATG c.205_207delinsATG p.L69M Missense 2/13 - 1
2-203329660-CT-TG c.205_206delinsTG p.L69C Missense 2/13 - 1
2-203329660-CTT-GAG c.205_207delinsGAG p.L69E Missense 2/13 - 1
2-203329660-CTT-TGG c.205_207delinsTGG p.L69W Missense 2/13 - 1
2-203329661-T-A c.206T>A p.L69H Missense 2/13 - 2
2-203329661-T-C c.206T>C p.L69P Missense 2/13 - 2
2-203329661-T-G c.206T>G p.L69R Missense 2/13 - 1
2-203329661-TT-AA c.206_207inv p.L69Q Missense 2/13 - 1
2-203329662-T-A c.207T>A p.L69= Synonymous 2/13 - 1
2-203329662-T-C c.207T>C p.L69= Synonymous 2/13 - 2
2-203329662-T-G c.207T>G p.L69= Synonymous 2/13 - 1
2-203329663-T-A c.208T>A p.W70R Missense 2/13 - 1
2-203329663-T-C c.208T>C p.W70R Missense 2/13 - 1
2-203329663-T-G c.208T>G p.W70G Missense 2/13 - 1
2-203329663-TG-AA c.208_209delinsAA p.W70K Missense 2/13 - 1
2-203329663-TG-AC c.208_209delinsAC p.W70T Missense 2/13 - 1
2-203329663-TG-AT c.208_209delinsAT p.W70M Missense 2/13 - 1
2-203329663-TG-CA c.208_209inv p.W70Q Missense 2/13 - 1
2-203329663-TG-CC c.208_209delinsCC p.W70P Missense 2/13 - 1
2-203329663-TG-GA c.208_209delinsGA p.W70E Missense 2/13 - 1
2-203329663-TGG-AAC c.208_210delinsAAC p.W70N Missense 2/13 - 1
2-203329663-TGG-ATC c.208_210delinsATC p.W70I Missense 2/13 - 1
2-203329663-TG-GC c.208_209delinsGC p.W70A Missense 2/13 - 1
2-203329663-TGG-CAT c.208_210delinsCAT p.W70H Missense 2/13 - 1
2-203329663-TGG-GAC c.208_210delinsGAC p.W70D Missense 2/13 - 1
2-203329663-TG-GT c.208_209delinsGT p.W70V Missense 2/13 - 1
2-203329664-G-C c.209G>C p.W70S Missense 2/13 - 1
2-203329664-GG-AT c.209_210delinsAT p.W70Y Missense 2/13 - 1
2-203329664-GG-TT c.209_210delinsTT p.W70F Missense 2/13 - 1
2-203329664-G-T c.209G>T p.W70L Missense 2/13 - 1
2-203329665-G-C c.210G>C p.W70C Missense 2/13 - 1
2-203329665-G-T c.210G>T p.W70C Missense 2/13 - 1
2-203329666-G-A c.211G>A p.E71K Missense 2/13 - 1
2-203329666-GA-AC c.211_212delinsAC p.E71T Missense 2/13 - 1
2-203329666-GA-AG c.211_212delinsAG p.E71R Missense 2/13 - 1
2-203329666-GA-AT c.211_212delinsAT p.E71M Missense 2/13 - 1
2-203329666-GA-CC c.211_212delinsCC p.E71P Missense 2/13 - 1
2-203329666-GA-CT c.211_212delinsCT p.E71L Missense 2/13 - 1
2-203329666-GAG-AAC c.211_213delinsAAC p.E71N Missense 2/13 - 1
2-203329666-GAG-ATC c.211_213delinsATC p.E71I Missense 2/13 - 1
2-203329666-GAG-CAT c.211_213delinsCAT p.E71H Missense 2/13 - 1
2-203329666-GAG-TAT c.211_213delinsTAT p.E71Y Missense 2/13 - 1
2-203329666-GAG-TGT c.211_213delinsTGT p.E71C Missense 2/13 - 1
2-203329666-GAG-TTT c.211_213delinsTTT p.E71F Missense 2/13 - 1
2-203329666-GA-TC c.211_212inv p.E71S Missense 2/13 - 1
2-203329666-GA-TG c.211_212delinsTG p.E71W Missense 2/13 - 1
2-203329666-G-C c.211G>C p.E71Q Missense 2/13 - 1
2-203329667-A-C c.212A>C p.E71A Missense 2/13 - 3
2-203329667-A-G c.212A>G p.E71G Missense 2/13 - 1
2-203329667-A-T c.212A>T p.E71V Missense 2/13 - 1
2-203329668-G-C c.213G>C p.E71D Missense 2/13 - 1
2-203329668-G-T c.213G>T p.E71D Missense 2/13 - 1
2-203329669-AAA-CAT c.214_216delinsCAT p.K72H Missense 2/13 - 1
2-203329669-AAA-GAC c.214_216delinsGAC p.K72D Missense 2/13 - 1
2-203329669-AAA-TAT c.214_216delinsTAT p.K72Y Missense 2/13 - 1
2-203329669-AAA-TGG c.214_216delinsTGG p.K72W Missense 2/13 - 1
2-203329669-AAA-TGT c.214_216delinsTGT p.K72C Missense 2/13 - 1
2-203329669-AAA-TTT c.214_216inv p.K72F Missense 2/13 - 1
2-203329669-AA-CC c.214_215delinsCC p.K72P Missense 2/13 - 1
2-203329669-AA-CT c.214_215delinsCT p.K72L Missense 2/13 - 1
2-203329669-AA-GC c.214_215delinsGC p.K72A Missense 2/13 - 1
2-203329669-AA-GG c.214_215delinsGG p.K72G Missense 2/13 - 1
2-203329669-AA-GT c.214_215delinsGT p.K72V Missense 2/13 - 1
2-203329669-A-C c.214A>C p.K72Q Missense 2/13 - 1
2-203329669-A-G c.214A>G p.K72E Missense 2/13 - 1
2-203329670-AA-GC c.215_216delinsGC p.K72S Missense 2/13 - 1
2-203329670-AA-TG c.215_216delinsTG p.K72M Missense 2/13 - 1
2-203329670-A-C c.215A>C p.K72T Missense 2/13 - 1
2-203329670-A-G c.215A>G p.K72R Missense 2/13 - 1
2-203329670-A-T c.215A>T p.K72I Missense 2/13 - 1
2-203329671-A-C c.216A>C p.K72N Missense 2/13 - 1
2-203329671-A-T c.216A>T p.K72N Missense 2/13 - 1
2-203329672-T-A c.217T>A p.S73T Missense 2/13 - 3
2-203329672-T-C c.217T>C p.S73P Missense 2/13 - 1
2-203329672-TC-AA c.217_218delinsAA p.S73K Missense 2/13 - 1
2-203329672-TCA-AAC c.217_219delinsAAC p.S73N Missense 2/13 - 1
2-203329672-TCA-ATG c.217_219delinsATG p.S73M Missense 2/13 - 1
2-203329672-TCA-CAT c.217_219delinsCAT p.S73H Missense 2/13 - 1
2-203329672-TC-AG c.217_218delinsAG p.S73R Missense 2/13 - 1
2-203329672-TCA-GAC c.217_219delinsGAC p.S73D Missense 2/13 - 1
2-203329672-TC-AT c.217_218delinsAT p.S73I Missense 2/13 - 1
2-203329672-TC-CA c.217_218delinsCA p.S73Q Missense 2/13 - 1
2-203329672-TC-GA c.217_218inv p.S73E Missense 2/13 - 1
2-203329672-TC-GG c.217_218delinsGG p.S73G Missense 2/13 - 1
2-203329672-TC-GT c.217_218delinsGT p.S73V Missense 2/13 - 1
2-203329672-T-G c.217T>G p.S73A Missense 2/13 - 1
2-203329673-CA-AT c.218_219delinsAT p.S73Y Missense 2/13 - 1
2-203329673-CA-GG c.218_219delinsGG p.S73W Missense 2/13 - 1
2-203329673-CA-GT c.218_219delinsGT p.S73C Missense 2/13 - 1
2-203329673-CA-TT c.218_219delinsTT p.S73F Missense 2/13 - 1
2-203329673-C-G c.218C>G p.S73* Nonsense 2/13 - 3
2-203329673-C-T c.218C>T p.S73L Missense 2/13 - 3
2-203329675-AAA-CAT c.220_222delinsCAT p.K74H Missense 2/13 - 1
2-203329675-AAA-GAC c.220_222delinsGAC p.K74D Missense 2/13 - 1
2-203329675-AAA-TAT c.220_222delinsTAT p.K74Y Missense 2/13 - 1
2-203329675-AAA-TGG c.220_222delinsTGG p.K74W Missense 2/13 - 1
2-203329675-AAA-TGT c.220_222delinsTGT p.K74C Missense 2/13 - 1
2-203329675-AAA-TTT c.220_222inv p.K74F Missense 2/13 - 1
2-203329675-AA-CC c.220_221delinsCC p.K74P Missense 2/13 - 1
2-203329675-AA-CT c.220_221delinsCT p.K74L Missense 2/13 - 1
2-203329675-AA-GC c.220_221delinsGC p.K74A Missense 2/13 - 1
2-203329675-AA-GG c.220_221delinsGG p.K74G Missense 2/13 - 1
2-203329675-AA-GT c.220_221delinsGT p.K74V Missense 2/13 - 1
2-203329675-A-C c.220A>C p.K74Q Missense 2/13 - 1
2-203329675-A-G c.220A>G p.K74E Missense 2/13 - 2
2-203329675-A-T c.220A>T p.K74* Nonsense 2/13 - 1
2-203329676-AA-GC c.221_222delinsGC p.K74S Missense 2/13 - 1
2-203329676-AA-TG c.221_222delinsTG p.K74M Missense 2/13 - 1
2-203329676-A-C c.221A>C p.K74T Missense 2/13 - 1
2-203329676-A-G c.221A>G p.K74R Missense 2/13 - 1
2-203329676-A-T c.221A>T p.K74I Missense 2/13 - 1
2-203329677-A-C c.222A>C p.K74N Missense 2/13 - 1
2-203329677-A-T c.222A>T p.K74N Missense 2/13 - 1
2-203329678-G-A c.223G>A p.G75R Missense 2/13 - 2
2-203329678-G-C c.223G>C p.G75R Missense 2/13 - 1
2-203329678-GG-AA c.223_224delinsAA p.G75K Missense 2/13 - 1
2-203329678-GG-AC c.223_224delinsAC p.G75T Missense 2/13 - 1
2-203329678-GG-AT c.223_224delinsAT p.G75M Missense 2/13 - 1
2-203329678-GG-CA c.223_224delinsCA p.G75Q Missense 2/13 - 1
2-203329678-GG-CC c.223_224inv p.G75P Missense 2/13 - 1
2-203329678-GG-CT c.223_224delinsCT p.G75L Missense 2/13 - 1
2-203329678-GGG-AAC c.223_225delinsAAC p.G75N Missense 2/13 - 1
2-203329678-GGG-AGC c.223_225delinsAGC p.G75S Missense 2/13 - 1
2-203329678-GGG-ATC c.223_225delinsATC p.G75I Missense 2/13 - 1
2-203329678-GGG-CAT c.223_225delinsCAT p.G75H Missense 2/13 - 1
2-203329678-GGG-TAT c.223_225delinsTAT p.G75Y Missense 2/13 - 1
2-203329678-GGG-TGT c.223_225delinsTGT p.G75C Missense 2/13 - 1
2-203329678-GGG-TTT c.223_225delinsTTT p.G75F Missense 2/13 - 1
2-203329678-G-T c.223G>T p.G75W Missense 2/13 - 1
2-203329679-G-A c.224G>A p.G75E Missense 2/13 - 3
2-203329679-G-C c.224G>C p.G75A Missense 2/13 - 3
2-203329679-GG-AC c.224_225delinsAC p.G75D Missense 2/13 - 2
2-203329679-G-T c.224G>T p.G75V Missense 2/13 - 1
2-203329680-G-GT c.225_226insT p.D76* Nonsense 2/13 - 1
2-203329681-G-A c.226G>A p.D76N Missense 2/13 - 1
2-203329681-GA-AC c.226_227delinsAC p.D76T Missense 2/13 - 1
2-203329681-GA-AG c.226_227delinsAG p.D76S Missense 2/13 - 1
2-203329681-GA-AT c.226_227delinsAT p.D76I Missense 2/13 - 1
2-203329681-GAC-AAG c.226_228delinsAAG p.D76K Missense 2/13 - 1
2-203329681-GAC-ATG c.226_228delinsATG p.D76M Missense 2/13 - 1
2-203329681-GA-CC c.226_227delinsCC p.D76P Missense 2/13 - 1
2-203329681-GAC-CAA c.226_228delinsCAA p.D76Q Missense 2/13 - 1
2-203329681-GA-CG c.226_227delinsCG p.D76R Missense 2/13 - 1
2-203329681-GA-CT c.226_227delinsCT p.D76L Missense 2/13 - 1
2-203329681-GAC-TGG c.226_228delinsTGG p.D76W Missense 2/13 - 1
2-203329681-GA-TG c.226_227delinsTG p.D76C Missense 2/13 - 1
2-203329681-GA-TT c.226_227delinsTT p.D76F Missense 2/13 - 1
2-203329681-G-C c.226G>C p.D76H Missense 2/13 - 1
2-203329681-G-T c.226G>T p.D76Y Missense 2/13 - 1
2-203329682-A-C c.227A>C p.D76A Missense 2/13 - 1
2-203329682-A-G c.227A>G p.D76G Missense 2/13 - 1
2-203329682-A-T c.227A>T p.D76V Missense 2/13 - 1
2-203329683-C-A c.228C>A p.D76E Missense 2/13 - 2
2-203329683-C-G c.228C>G p.D76E Missense 2/13 - 3
2-203329684-A-C c.229A>C p.I77L Missense 2/13 - 1
2-203329684-A-G c.229A>G p.I77V Missense 2/13 - 2
2-203329684-A-T c.229A>T p.I77L Missense 2/13 - 4
2-203329684-ATA-CAT c.229_231delinsCAT p.I77H Missense 2/13 - 1
2-203329684-ATA-GAC c.229_231delinsGAC p.I77D Missense 2/13 - 1
2-203329684-ATA-TAT c.229_231inv p.I77Y Missense 2/13 - 1
2-203329684-ATA-TGG c.229_231delinsTGG p.I77W Missense 2/13 - 1
2-203329684-ATA-TGT c.229_231delinsTGT p.I77C Missense 2/13 - 1
2-203329684-ATA-TTT c.229_231delinsTTT p.I77F Missense 2/13 - 1
2-203329684-AT-CA c.229_230delinsCA p.I77Q Missense 2/13 - 1
2-203329684-AT-CC c.229_230delinsCC p.I77P Missense 2/13 - 1
2-203329684-AT-GA c.229_230delinsGA p.I77E Missense 2/13 - 1
2-203329684-AT-GC c.229_230delinsGC p.I77A Missense 2/13 - 1
2-203329684-AT-GG c.229_230delinsGG p.I77G Missense 2/13 - 1
2-203329685-T-A c.230T>A p.I77K Missense 2/13 - 1
2-203329685-TA-AC c.230_231delinsAC p.I77N Missense 2/13 - 1
2-203329685-TA-GC c.230_231delinsGC p.I77S Missense 2/13 - 1
2-203329685-T-C c.230T>C p.I77T Missense 2/13 - 2
2-203329685-T-G c.230T>G p.I77R Missense 2/13 - 1
2-203329686-A-G c.231A>G p.I77M Missense 2/13 - 1
2-203329687-AA-CC c.232_233delinsCC p.N78P Missense 2/13 - 1
2-203329687-AA-CT c.232_233delinsCT p.N78L Missense 2/13 - 1
2-203329687-AA-GC c.232_233delinsGC p.N78A Missense 2/13 - 1
2-203329687-AA-GG c.232_233delinsGG p.N78G Missense 2/13 - 1
2-203329687-AA-GT c.232_233delinsGT p.N78V Missense 2/13 - 1
2-203329687-AAT-CAA c.232_234delinsCAA p.N78Q Missense 2/13 - 1
2-203329687-AA-TG c.232_233delinsTG p.N78C Missense 2/13 - 1
2-203329687-AAT-GAG c.232_234delinsGAG p.N78E Missense 2/13 - 1
2-203329687-AA-TT c.232_233inv p.N78F Missense 2/13 - 1
2-203329687-AAT-TGG c.232_234delinsTGG p.N78W Missense 2/13 - 1
2-203329687-A-C c.232A>C p.N78H Missense 2/13 - 1
2-203329687-A-G c.232A>G p.N78D Missense 2/13 - 1
2-203329687-A-T c.232A>T p.N78Y Missense 2/13 - 1
2-203329688-A-C c.233A>C p.N78T Missense 2/13 - 1
2-203329688-A-G c.233A>G p.N78S Missense 2/13 - 2
2-203329688-A-T c.233A>T p.N78I Missense 2/13 - 1
2-203329688-AT-GG c.233_234delinsGG p.N78R Missense 2/13 - 1
2-203329688-AT-TG c.233_234delinsTG p.N78M Missense 2/13 - 1
2-203329689-T-A c.234T>A p.N78K Missense 2/13 - 1
2-203329689-T-G c.234T>G p.N78K Missense 2/13 - 1
2-203329690-C-A c.235C>A p.L79I Missense 2/13 - 1
2-203329690-C-G c.235C>G p.L79V Missense 2/13 - 1
2-203329690-C-T c.235C>T p.L79F Missense 2/13 - 1
2-203329690-CT-AA c.235_236delinsAA p.L79N Missense 2/13 - 1
2-203329690-CT-AC c.235_236delinsAC p.L79T Missense 2/13 - 1
2-203329690-CT-AG c.235_236inv p.L79S Missense 2/13 - 1
2-203329690-CT-GA c.235_236delinsGA p.L79D Missense 2/13 - 1
2-203329690-CT-GC c.235_236delinsGC p.L79A Missense 2/13 - 1
2-203329690-CT-GG c.235_236delinsGG p.L79G Missense 2/13 - 1
2-203329690-CT-TA c.235_236delinsTA p.L79Y Missense 2/13 - 1
2-203329690-CTT-AAG c.235_237inv p.L79K Missense 2/13 - 1
2-203329690-CTT-ATG c.235_237delinsATG p.L79M Missense 2/13 - 1
2-203329690-CT-TG c.235_236delinsTG p.L79C Missense 2/13 - 1
2-203329690-CTT-GAG c.235_237delinsGAG p.L79E Missense 2/13 - 1
2-203329690-CTT-TGG c.235_237delinsTGG p.L79W Missense 2/13 - 1
2-203329691-T-A c.236T>A p.L79H Missense 2/13 - 1
2-203329691-T-C c.236T>C p.L79P Missense 2/13 - 1
2-203329691-T-G c.236T>G p.L79R Missense 2/13 - 1
2-203329691-TT-AA c.236_237inv p.L79Q Missense 2/13 - 1
2-203329691-TTG-AAAAGGGGACA c.236_238delinsAAAAGGGGACA p.L79Qfs*5 Frameshift 2/13 - 1
2-203329690-CT-C c.237del p.V80* Frameshift 2/13 - 1
2-203329692-T-TTAA c.237_238insTAA p.L79_V80ins* InFrameInsertion 2/13 - 1
2-203329693-G-A c.238G>A p.V80I Missense 2/13 - 1
2-203329693-G-C c.238G>C p.V80L Missense 2/13 - 1
2-203329693-G-T c.238G>T p.V80L Missense 2/13 - 1
2-203329693-GT-AA c.238_239delinsAA p.V80K Missense 2/13 - 1
2-203329693-GTA-AAC c.238_240delinsAAC p.V80N Missense 2/13 - 1
2-203329693-GTA-ATG c.238_240delinsATG p.V80M Missense 2/13 - 1
2-203329693-GT-AC c.238_239inv p.V80T Missense 2/13 - 1
2-203329693-GTA-CAT c.238_240delinsCAT p.V80H Missense 2/13 - 1
2-203329693-GT-AG c.238_239delinsAG p.V80R Missense 2/13 - 1
2-203329693-GTA-TAT c.238_240delinsTAT p.V80Y Missense 2/13 - 1
2-203329693-GTA-TGG c.238_240delinsTGG p.V80W Missense 2/13 - 1
2-203329693-GTA-TGT c.238_240delinsTGT p.V80C Missense 2/13 - 1
2-203329693-GTA-TTT c.238_240delinsTTT p.V80F Missense 2/13 - 1
2-203329693-GT-CA c.238_239delinsCA p.V80Q Missense 2/13 - 1
2-203329693-GT-CC c.238_239delinsCC p.V80P Missense 2/13 - 1
2-203329693-GT-TC c.238_239delinsTC p.V80S Missense 2/13 - 1
2-203329694-T-A c.239T>A p.V80E Missense 2/13 - 1
2-203329694-TA-AC c.239_240delinsAC p.V80D Missense 2/13 - 1
2-203329694-T-C c.239T>C p.V80A Missense 2/13 - 1
2-203329694-T-G c.239T>G p.V80G Missense 2/13 - 1
2-203329695-A-AT c.240_241insT p.K81* Nonsense 2/13 - 1
2-203329696-AAA-CAT c.241_243delinsCAT p.K81H Missense 2/13 - 1
2-203329696-AAA-GAC c.241_243delinsGAC p.K81D Missense 2/13 - 1
2-203329696-AAA-TAT c.241_243delinsTAT p.K81Y Missense 2/13 - 1
2-203329696-AAA-TGG c.241_243delinsTGG p.K81W Missense 2/13 - 1
2-203329696-AAA-TGT c.241_243delinsTGT p.K81C Missense 2/13 - 1
2-203329696-AAA-TTT c.241_243inv p.K81F Missense 2/13 - 1
2-203329696-AA-CC c.241_242delinsCC p.K81P Missense 2/13 - 1
2-203329696-AA-CT c.241_242delinsCT p.K81L Missense 2/13 - 1
2-203329696-AA-GC c.241_242delinsGC p.K81A Missense 2/13 - 1
2-203329696-AA-GG c.241_242delinsGG p.K81G Missense 2/13 - 1
2-203329696-AA-GT c.241_242delinsGT p.K81V Missense 2/13 - 1
2-203329696-A-AT c.241_242insT p.K81Ifs*17 Frameshift 2/13 - 1
2-203329696-A-C c.241A>C p.K81Q Missense 2/13 - 1
2-203329696-A-G c.241A>G p.K81E Missense 2/13 - 1
2-203329697-AA-GC c.242_243delinsGC p.K81S Missense 2/13 - 1
2-203329697-AA-TG c.242_243delinsTG p.K81M Missense 2/13 - 1
2-203329697-A-C c.242A>C p.K81T Missense 2/13 - 1
2-203329697-A-G c.242A>G p.K81R Missense 2/13 - 1
2-203329697-A-T c.242A>T p.K81I Missense 2/13 - 1
2-203329694-TA-T c.243del p.K81Nfs*20 Frameshift 2/13 - 2
2-203329698-A-C c.243A>C p.K81N Missense 2/13 - 1
2-203329698-A-T c.243A>T p.K81N Missense 2/13 - 1
2-203329699-C-A c.244C>A p.Q82K Missense 2/13 - 2
2-203329699-CAA-AAC c.244_246delinsAAC p.Q82N Missense 2/13 - 1
2-203329699-CAA-ATG c.244_246delinsATG p.Q82M Missense 2/13 - 1
2-203329699-CA-AC c.244_245delinsAC p.Q82T Missense 2/13 - 1
2-203329699-CAA-GAC c.244_246delinsGAC p.Q82D Missense 2/13 - 1
2-203329699-CA-AT c.244_245delinsAT p.Q82I Missense 2/13 - 1
2-203329699-CAA-TAT c.244_246delinsTAT p.Q82Y Missense 2/13 - 1
2-203329699-CAA-TGG c.244_246delinsTGG p.Q82W Missense 2/13 - 1
2-203329699-CAA-TGT c.244_246delinsTGT p.Q82C Missense 2/13 - 1
2-203329699-CAA-TTT c.244_246delinsTTT p.Q82F Missense 2/13 - 1
2-203329699-CA-GC c.244_245delinsGC p.Q82A Missense 2/13 - 1
2-203329699-CA-GG c.244_245delinsGG p.Q82G Missense 2/13 - 1
2-203329699-CA-GT c.244_245delinsGT p.Q82V Missense 2/13 - 1
2-203329699-CA-TC c.244_245delinsTC p.Q82S Missense 2/13 - 1
2-203329699-C-G c.244C>G p.Q82E Missense 2/13 - 1
2-203329699-C-T c.244C>T p.Q82* Nonsense 2/13 - 4
2-203329700-A-C c.245A>C p.Q82P Missense 2/13 - 1
2-203329700-A-G c.245A>G p.Q82R Missense 2/13 - 1
2-203329700-A-T c.245A>T p.Q82L Missense 2/13 - 1
2-203329699-C-CA c.246dup p.G83Rfs*15 SpliceDonorInsertion 2/13 - 2
2-203329701-A-C c.246A>C p.Q82H Missense 2/13 - 6
2-203329701-A-G c.246A>G p.Q82= Synonymous 2/13 - 1
2-203329701-A-T c.246A>T p.Q82H Missense 2/13 - 5
2-203329702-G-A c.247G>A p.G83R Missense 2/13 - 7
2-203329702-G-C c.247G>C p.G83R Missense 2/13 - 5
2-203329701-AGGCAAGT-A c.247+1_247+7del - SpliceDonorDeletion - 2/12 1
2-203329703-G-A c.247+1G>A - IntronicSNV - 2/12 3
2-203329704-GC-G c.247+2del - IntronicDeletion - 2/12 1
2-203329708-T-G c.247+6T>G - IntronicSNV - 2/12 1
2-203329731-GACTGTGTTTTATACAATTGATATTTATCTAAAAAGGACATGGGAGTATGTTAAAATCCT-G c.247+29_247+87del - Unclassified - 2/12 1
2-203329836-TGGTGGCTCATGCCTGTAATTCCAGCACTTTTCGAGGCTGAGGTGGGCGGATCACTTGAG-T c.247+136_247+194del - Unclassified - 2/12 1
2-203329863-C-A c.247+161C>A - IntronicSNV - 2/12 1
2-203329863-C-G c.247+161C>G - IntronicSNV - 2/12 1
2-203329906-TTG-T c.247+204_247+205del - IntronicDeletion - 2/12 1
2-203332242-G-A c.248G>A p.G83E Missense 3/13 - 5
2-203332242-GA-AC c.248_249delinsAC p.G83D Missense 3/13 - 1
2-203332242-G-C c.248G>C p.G83A Missense 3/13 - 1
2-203332242-G-T c.248G>T p.G83V Missense 3/13 - 1
2-203332244-ATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTAC-A c.250_308del p.C84Hfs*16 InFrameDeletion 3/13 - 1
2-203332244-T-A c.250T>A p.C84S Missense 3/13 - 1
2-203332244-T-C c.250T>C p.C84R Missense 3/13 - 5
2-203332244-T-G c.250T>G p.C84G Missense 3/13 - 4
2-203332244-TG-AA c.250_251delinsAA p.C84N Missense 3/13 - 1
2-203332244-TG-AC c.250_251delinsAC p.C84T Missense 3/13 - 1
2-203332244-TG-AT c.250_251delinsAT p.C84I Missense 3/13 - 1
2-203332244-TG-CA c.250_251inv p.C84H Missense 3/13 - 1
2-203332244-TG-CC c.250_251delinsCC p.C84P Missense 3/13 - 1
2-203332244-TG-CT c.250_251delinsCT p.C84L Missense 3/13 - 1
2-203332244-TG-GA c.250_251delinsGA p.C84D Missense 3/13 - 1
2-203332244-TG-GC c.250_251delinsGC p.C84A Missense 3/13 - 1
2-203332244-TG-GT c.250_251delinsGT p.C84V Missense 3/13 - 1
2-203332244-TGT-AAG c.250_252delinsAAG p.C84K Missense 3/13 - 1
2-203332244-TGT-ATG c.250_252delinsATG p.C84M Missense 3/13 - 1
2-203332244-TGT-CAA c.250_252delinsCAA p.C84Q Missense 3/13 - 1
2-203332244-TGT-GAG c.250_252delinsGAG p.C84E Missense 3/13 - 1
2-203332245-G-C c.251G>C p.C84S Missense 3/13 - 1
2-203332245-G-A c.251G>A p.C84Y Missense 3/13 - 3
2-203332245-G-T c.251G>T p.C84F Missense 3/13 - 7
2-203332245-TGTTGG-T c.251_255del p.C84Ffs*12 Frameshift 3/13 - 1
2-203332246-T-G c.252T>G p.C84W Missense 3/13 - 1
2-203332247-T-A c.253T>A p.W85R Missense 3/13 - 1
2-203332247-T-C c.253T>C p.W85R Missense 3/13 - 1
2-203332247-T-G c.253T>G p.W85G Missense 3/13 - 1
2-203332247-TG-AA c.253_254delinsAA p.W85K Missense 3/13 - 1
2-203332247-TG-AC c.253_254delinsAC p.W85T Missense 3/13 - 1
2-203332247-TG-AT c.253_254delinsAT p.W85M Missense 3/13 - 1
2-203332247-TG-CA c.253_254inv p.W85Q Missense 3/13 - 1
2-203332247-TG-CC c.253_254delinsCC p.W85P Missense 3/13 - 1
2-203332247-TG-GA c.253_254delinsGA p.W85E Missense 3/13 - 1
2-203332247-TGG-AAC c.253_255delinsAAC p.W85N Missense 3/13 - 1
2-203332247-TGG-ATC c.253_255delinsATC p.W85I Missense 3/13 - 1
2-203332247-TG-GC c.253_254delinsGC p.W85A Missense 3/13 - 1
2-203332247-TGG-CAT c.253_255delinsCAT p.W85H Missense 3/13 - 1
2-203332247-TGG-GAC c.253_255delinsGAC p.W85D Missense 3/13 - 1
2-203332247-TG-GT c.253_254delinsGT p.W85V Missense 3/13 - 1
2-203332248-G-A c.254G>A p.W85* Nonsense 3/13 - 1
2-203332248-G-C c.254G>C p.W85S Missense 3/13 - 1
2-203332248-GG-AT c.254_255delinsAT p.W85Y Missense 3/13 - 1
2-203332248-GG-TT c.254_255delinsTT p.W85F Missense 3/13 - 1
2-203332248-G-T c.254G>T p.W85L Missense 3/13 - 3
2-203332249-G-A c.255G>A p.W85* Nonsense 3/13 - 2
2-203332249-G-C c.255G>C p.W85C Missense 3/13 - 2
2-203332249-G-T c.255G>T p.W85C Missense 3/13 - 2
2-203332250-T-A c.256T>A p.S86T Missense 3/13 - 1
2-203332250-T-C c.256T>C p.S86P Missense 3/13 - 1
2-203332250-TC-AA c.256_257delinsAA p.S86N Missense 3/13 - 1
2-203332250-TC-AT c.256_257delinsAT p.S86I Missense 3/13 - 1
2-203332250-TC-CA c.256_257delinsCA p.S86H Missense 3/13 - 1
2-203332250-TC-CG c.256_257delinsCG p.S86R Missense 3/13 - 1
2-203332250-TC-CT c.256_257delinsCT p.S86L Missense 3/13 - 1
2-203332250-TC-GA c.256_257inv p.S86D Missense 3/13 - 1
2-203332250-TC-GG c.256_257delinsGG p.S86G Missense 3/13 - 1
2-203332250-TC-GT c.256_257delinsGT p.S86V Missense 3/13 - 1
2-203332250-TCT-AAG c.256_258delinsAAG p.S86K Missense 3/13 - 1
2-203332250-TCT-ATG c.256_258delinsATG p.S86M Missense 3/13 - 1
2-203332250-TCT-CAA c.256_258delinsCAA p.S86Q Missense 3/13 - 1
2-203332250-TCT-GAG c.256_258delinsGAG p.S86E Missense 3/13 - 1
2-203332250-T-G c.256T>G p.S86A Missense 3/13 - 2
2-203332251-C-A c.257C>A p.S86Y Missense 3/13 - 1
2-203332251-C-G c.257C>G p.S86C Missense 3/13 - 2
2-203332251-C-T c.257C>T p.S86F Missense 3/13 - 1
2-203332251-CT-GG c.257_258delinsGG p.S86W Missense 3/13 - 1
2-203332253-C-A c.259C>A p.H87N Missense 3/13 - 1
2-203332253-CA-AC c.259_260delinsAC p.H87T Missense 3/13 - 1
2-203332253-CA-AG c.259_260delinsAG p.H87S Missense 3/13 - 1
2-203332253-CA-AT c.259_260delinsAT p.H87I Missense 3/13 - 1
2-203332253-CAC-AAG c.259_261delinsAAG p.H87K Missense 3/13 - 1
2-203332253-CAC-ATG c.259_261delinsATG p.H87M Missense 3/13 - 1
2-203332253-CAC-GAG c.259_261delinsGAG p.H87E Missense 3/13 - 1
2-203332253-CAC-TGG c.259_261delinsTGG p.H87W Missense 3/13 - 1
2-203332253-CA-GC c.259_260delinsGC p.H87A Missense 3/13 - 2
2-203332253-CA-GG c.259_260delinsGG p.H87G Missense 3/13 - 1
2-203332253-CA-GT c.259_260delinsGT p.H87V Missense 3/13 - 1
2-203332253-CA-TG c.259_260inv p.H87C Missense 3/13 - 1
2-203332253-CA-TT c.259_260delinsTT p.H87F Missense 3/13 - 1
2-203332253-C-G c.259C>G p.H87D Missense 3/13 - 2
2-203332253-C-T c.259C>T p.H87Y Missense 3/13 - 2
2-203332253-C-CA c.260dup p.H87Qfs*11 Frameshift 3/13 - 1
2-203332254-A-C c.260A>C p.H87P Missense 3/13 - 1
2-203332254-A-G c.260A>G p.H87R Missense 3/13 - 3
2-203332254-A-T c.260A>T p.H87L Missense 3/13 - 1
2-203332255-C-A c.261C>A p.H87Q Missense 3/13 - 1
2-203332255-C-G c.261C>G p.H87Q Missense 3/13 - 1
2-203332256-A-C c.262A>C p.I88L Missense 3/13 - 1
2-203332256-A-G c.262A>G p.I88V Missense 3/13 - 1
2-203332256-A-T c.262A>T p.I88F Missense 3/13 - 1
2-203332256-AT-CA c.262_263delinsCA p.I88H Missense 3/13 - 1
2-203332256-AT-CC c.262_263delinsCC p.I88P Missense 3/13 - 1
2-203332256-AT-GA c.262_263delinsGA p.I88D Missense 3/13 - 1
2-203332256-AT-GC c.262_263delinsGC p.I88A Missense 3/13 - 1
2-203332256-AT-GG c.262_263delinsGG p.I88G Missense 3/13 - 1
2-203332256-AT-TA c.262_263delinsTA p.I88Y Missense 3/13 - 1
2-203332256-ATT-CAA c.262_264delinsCAA p.I88Q Missense 3/13 - 1
2-203332256-AT-TG c.262_263delinsTG p.I88C Missense 3/13 - 1
2-203332256-ATT-GAG c.262_264delinsGAG p.I88E Missense 3/13 - 1
2-203332256-ATT-TGG c.262_264delinsTGG p.I88W Missense 3/13 - 1
2-203332257-T-A c.263T>A p.I88N Missense 3/13 - 1
2-203332257-T-C c.263T>C p.I88T Missense 3/13 - 3
2-203332257-T-G c.263T>G p.I88S Missense 3/13 - 1
2-203332257-TT-AG c.263_264delinsAG p.I88K Missense 3/13 - 1
2-203332257-TT-GG c.263_264delinsGG p.I88R Missense 3/13 - 1
2-203332256-A-AT c.264dup p.G89Wfs*9 Frameshift 3/13 - 1
2-203332258-T-G c.264T>G p.I88M Missense 3/13 - 1
2-203332259-GGA-TGG c.265_267delinsTGG p.G89W Missense 3/13 - 1
2-203332260-G-A c.266G>A p.G89E Missense 3/13 - 1
2-203332260-G-C c.266G>C p.G89A Missense 3/13 - 1
2-203332262-G-C c.268G>C p.D90H Missense 3/13 - 3
2-203332265-C-T c.271C>T p.P91S Missense 3/13 - 1
2-203332266-C-T c.272C>T p.P91L Missense 3/13 - 1
2-203332264-TC-T c.274del p.Q92Kfs*9 Frameshift 3/13 - 1
2-203332268-C-A c.274C>A p.Q92K Missense 3/13 - 1
2-203332268-CAA-AAC c.274_276delinsAAC p.Q92N Missense 3/13 - 1
2-203332268-CAA-ATG c.274_276delinsATG p.Q92M Missense 3/13 - 1
2-203332268-CA-AC c.274_275delinsAC p.Q92T Missense 3/13 - 1
2-203332268-CAA-GAC c.274_276delinsGAC p.Q92D Missense 3/13 - 1
2-203332268-CA-AT c.274_275delinsAT p.Q92I Missense 3/13 - 1
2-203332268-CAA-TAT c.274_276delinsTAT p.Q92Y Missense 3/13 - 1
2-203332268-CAA-TGG c.274_276delinsTGG p.Q92W Missense 3/13 - 1
2-203332268-CAA-TGT c.274_276delinsTGT p.Q92C Missense 3/13 - 1
2-203332268-CAA-TTT c.274_276delinsTTT p.Q92F Missense 3/13 - 1
2-203332268-CA-GC c.274_275delinsGC p.Q92A Missense 3/13 - 1
2-203332268-CA-GG c.274_275delinsGG p.Q92G Missense 3/13 - 1
2-203332268-CA-GT c.274_275delinsGT p.Q92V Missense 3/13 - 1
2-203332268-CA-TC c.274_275delinsTC p.Q92S Missense 3/13 - 1
2-203332268-C-G c.274C>G p.Q92E Missense 3/13 - 1
2-203332268-C-T c.274C>T p.Q92* Nonsense 3/13 - 2
2-203332269-A-C c.275A>C p.Q92P Missense 3/13 - 2
2-203332269-A-G c.275A>G p.Q92R Missense 3/13 - 1
2-203332269-A-T c.275A>T p.Q92L Missense 3/13 - 5
2-203332270-A-C c.276A>C p.Q92H Missense 3/13 - 10
2-203332270-A-G c.276A>G p.Q92= Synonymous 3/13 - 2
2-203332270-A-T c.276A>T p.Q92H Missense 3/13 - 4
2-203332270-A-AG c.277dup p.E93Gfs*5 Frameshift 3/13 - 1
2-203332271-G-A c.277G>A p.E93K Missense 3/13 - 1
2-203332271-GA-AC c.277_278delinsAC p.E93T Missense 3/13 - 1
2-203332271-GA-AG c.277_278delinsAG p.E93R Missense 3/13 - 1
2-203332271-GA-AT c.277_278delinsAT p.E93M Missense 3/13 - 1
2-203332271-GA-CC c.277_278delinsCC p.E93P Missense 3/13 - 1
2-203332271-GA-CT c.277_278delinsCT p.E93L Missense 3/13 - 1
2-203332271-GAG-AAC c.277_279delinsAAC p.E93N Missense 3/13 - 1
2-203332271-GAG-ATC c.277_279delinsATC p.E93I Missense 3/13 - 1
2-203332271-GAG-CAT c.277_279delinsCAT p.E93H Missense 3/13 - 1
2-203332271-GAG-TAT c.277_279delinsTAT p.E93Y Missense 3/13 - 1
2-203332271-GAG-TGT c.277_279delinsTGT p.E93C Missense 3/13 - 1
2-203332271-GAG-TTT c.277_279delinsTTT p.E93F Missense 3/13 - 1
2-203332271-GA-TC c.277_278inv p.E93S Missense 3/13 - 2
2-203332271-GA-TG c.277_278delinsTG p.E93W Missense 3/13 - 1
2-203332271-G-C c.277G>C p.E93Q Missense 3/13 - 1
2-203332271-G-T c.277G>T p.E93* Nonsense 3/13 - 1
2-203332272-A-C c.278A>C p.E93A Missense 3/13 - 1
2-203332272-A-G c.278A>G p.E93G Missense 3/13 - 1
2-203332272-A-T c.278A>T p.E93V Missense 3/13 - 2
2-203332273-G-C c.279G>C p.E93D Missense 3/13 - 1
2-203332273-G-T c.279G>T p.E93D Missense 3/13 - 1
2-203332274-T-A c.280T>A p.C94S Missense 3/13 - 1
2-203332274-T-C c.280T>C p.C94R Missense 3/13 - 5
2-203332274-T-G c.280T>G p.C94G Missense 3/13 - 5
2-203332274-TG-AA c.280_281delinsAA p.C94N Missense 3/13 - 1
2-203332274-TG-AC c.280_281delinsAC p.C94T Missense 3/13 - 1
2-203332274-TG-AT c.280_281delinsAT p.C94I Missense 3/13 - 1
2-203332274-TG-CA c.280_281inv p.C94H Missense 3/13 - 1
2-203332274-TG-CC c.280_281delinsCC p.C94P Missense 3/13 - 1
2-203332274-TG-CT c.280_281delinsCT p.C94L Missense 3/13 - 1
2-203332274-TG-GA c.280_281delinsGA p.C94D Missense 3/13 - 1
2-203332274-TG-GC c.280_281delinsGC p.C94A Missense 3/13 - 1
2-203332274-TG-GT c.280_281delinsGT p.C94V Missense 3/13 - 1
2-203332274-TGT-AAG c.280_282delinsAAG p.C94K Missense 3/13 - 1
2-203332274-TGT-ATG c.280_282delinsATG p.C94M Missense 3/13 - 1
2-203332274-TGT-CAA c.280_282delinsCAA p.C94Q Missense 3/13 - 1
2-203332274-TGT-GAG c.280_282delinsGAG p.C94E Missense 3/13 - 1
2-203332275-G-C c.281G>C p.C94S Missense 3/13 - 1
2-203332275-G-A c.281G>A p.C94Y Missense 3/13 - 1
2-203332275-G-T c.281G>T p.C94F Missense 3/13 - 2
2-203332276-T-G c.282T>G p.C94W Missense 3/13 - 1
2-203332277-C-A c.283C>A p.H95N Missense 3/13 - 1
2-203332277-CA-AC c.283_284delinsAC p.H95T Missense 3/13 - 1
2-203332277-CA-AG c.283_284delinsAG p.H95S Missense 3/13 - 1
2-203332277-CA-AT c.283_284delinsAT p.H95I Missense 3/13 - 1
2-203332277-CAC-AAG c.283_285delinsAAG p.H95K Missense 3/13 - 1
2-203332277-CAC-ATG c.283_285delinsATG p.H95M Missense 3/13 - 1
2-203332277-CAC-GAG c.283_285delinsGAG p.H95E Missense 3/13 - 1
2-203332277-CAC-TGG c.283_285delinsTGG p.H95W Missense 3/13 - 1
2-203332277-CA-GC c.283_284delinsGC p.H95A Missense 3/13 - 1
2-203332277-CA-GG c.283_284delinsGG p.H95G Missense 3/13 - 1
2-203332277-CA-GT c.283_284delinsGT p.H95V Missense 3/13 - 1
2-203332277-CA-TG c.283_284inv p.H95C Missense 3/13 - 1
2-203332277-CA-TT c.283_284delinsTT p.H95F Missense 3/13 - 1
2-203332277-C-G c.283C>G p.H95D Missense 3/13 - 1
2-203332277-C-T c.283C>T p.H95Y Missense 3/13 - 1
2-203332278-A-C c.284A>C p.H95P Missense 3/13 - 1
2-203332278-A-G c.284A>G p.H95R Missense 3/13 - 1
2-203332278-A-T c.284A>T p.H95L Missense 3/13 - 1
2-203332279-C-A c.285C>A p.H95Q Missense 3/13 - 1
2-203332279-C-G c.285C>G p.H95Q Missense 3/13 - 1
2-203332280-T-A c.286T>A p.Y96N Missense 3/13 - 1
2-203332280-TA-AC c.286_287delinsAC p.Y96T Missense 3/13 - 1
2-203332280-TA-AT c.286_287delinsAT p.Y96I Missense 3/13 - 1
2-203332280-TA-CC c.286_287delinsCC p.Y96P Missense 3/13 - 1
2-203332280-TA-CG c.286_287delinsCG p.Y96R Missense 3/13 - 1
2-203332280-TA-CT c.286_287delinsCT p.Y96L Missense 3/13 - 1
2-203332280-TA-GC c.286_287delinsGC p.Y96A Missense 3/13 - 1
2-203332280-TA-GG c.286_287delinsGG p.Y96G Missense 3/13 - 1
2-203332280-TA-GT c.286_287delinsGT p.Y96V Missense 3/13 - 1
2-203332280-TAT-AAG c.286_288delinsAAG p.Y96K Missense 3/13 - 1
2-203332280-TAT-ATG c.286_288delinsATG p.Y96M Missense 3/13 - 1
2-203332280-TAT-CAA c.286_288delinsCAA p.Y96Q Missense 3/13 - 1
2-203332280-TAT-GAG c.286_288delinsGAG p.Y96E Missense 3/13 - 1
2-203332280-T-C c.286T>C p.Y96H Missense 3/13 - 2
2-203332280-T-G c.286T>G p.Y96D Missense 3/13 - 1
2-203332281-A-C c.287A>C p.Y96S Missense 3/13 - 1
2-203332281-A-G c.287A>G p.Y96C Missense 3/13 - 1
2-203332281-A-T c.287A>T p.Y96F Missense 3/13 - 1
2-203332281-AT-GG c.287_288delinsGG p.Y96W Missense 3/13 - 1
2-203332282-T-G c.288T>G p.Y96* Nonsense 3/13 - 2
2-203332283-G-A c.289G>A p.E97K Missense 3/13 - 1
2-203332283-GAA-AAC c.289_291delinsAAC p.E97N Missense 3/13 - 1
2-203332283-GAA-ATG c.289_291delinsATG p.E97M Missense 3/13 - 1
2-203332283-GA-AC c.289_290delinsAC p.E97T Missense 3/13 - 1
2-203332283-GAA-CAT c.289_291delinsCAT p.E97H Missense 3/13 - 1
2-203332283-GA-AG c.289_290delinsAG p.E97R Missense 3/13 - 1
2-203332283-GA-AT c.289_290delinsAT p.E97I Missense 3/13 - 1
2-203332283-GAA-TAT c.289_291delinsTAT p.E97Y Missense 3/13 - 1
2-203332283-GAA-TGG c.289_291delinsTGG p.E97W Missense 3/13 - 1
2-203332283-GAA-TGT c.289_291delinsTGT p.E97C Missense 3/13 - 1
2-203332283-GAA-TTT c.289_291delinsTTT p.E97F Missense 3/13 - 1
2-203332283-GA-CC c.289_290delinsCC p.E97P Missense 3/13 - 1
2-203332283-GA-CT c.289_290delinsCT p.E97L Missense 3/13 - 1
2-203332283-GA-TC c.289_290inv p.E97S Missense 3/13 - 1
2-203332283-G-C c.289G>C p.E97Q Missense 3/13 - 1
2-203332284-A-C c.290A>C p.E97A Missense 3/13 - 1
2-203332284-A-G c.290A>G p.E97G Missense 3/13 - 1
2-203332284-A-T c.290A>T p.E97V Missense 3/13 - 1
2-203332285-A-C c.291A>C p.E97D Missense 3/13 - 2
2-203332285-A-T c.291A>T p.E97D Missense 3/13 - 1
2-203332286-G-A c.292G>A p.E98K Missense 3/13 - 4
2-203332286-GAA-AAC c.292_294delinsAAC p.E98N Missense 3/13 - 1
2-203332286-GAA-ATG c.292_294delinsATG p.E98M Missense 3/13 - 1
2-203332286-GA-AC c.292_293delinsAC p.E98T Missense 3/13 - 1
2-203332286-GAA-CAT c.292_294delinsCAT p.E98H Missense 3/13 - 1
2-203332286-GA-AG c.292_293delinsAG p.E98R Missense 3/13 - 1
2-203332286-GA-AT c.292_293delinsAT p.E98I Missense 3/13 - 1
2-203332286-GAA-TAT c.292_294delinsTAT p.E98Y Missense 3/13 - 1
2-203332286-GAA-TGG c.292_294delinsTGG p.E98W Missense 3/13 - 1
2-203332286-GAA-TGT c.292_294delinsTGT p.E98C Missense 3/13 - 1
2-203332286-GAA-TTT c.292_294delinsTTT p.E98F Missense 3/13 - 1
2-203332286-GA-CC c.292_293delinsCC p.E98P Missense 3/13 - 1
2-203332286-GA-CT c.292_293delinsCT p.E98L Missense 3/13 - 1
2-203332286-GA-TC c.292_293inv p.E98S Missense 3/13 - 1
2-203332286-G-C c.292G>C p.E98Q Missense 3/13 - 1
2-203332286-G-T c.292G>T p.E98* Nonsense 3/13 - 4
2-203332287-A-C c.293A>C p.E98A Missense 3/13 - 1
2-203332287-A-G c.293A>G p.E98G Missense 3/13 - 3
2-203332287-A-T c.293A>T p.E98V Missense 3/13 - 1
2-203332288-A-C c.294A>C p.E98D Missense 3/13 - 1
2-203332288-A-T c.294A>T p.E98D Missense 3/13 - 1
2-203332289-T-A c.295T>A p.C99S Missense 3/13 - 1
2-203332289-T-C c.295T>C p.C99R Missense 3/13 - 6
2-203332289-T-G c.295T>G p.C99G Missense 3/13 - 1
2-203332289-TG-AA c.295_296delinsAA p.C99N Missense 3/13 - 1
2-203332289-TG-AC c.295_296delinsAC p.C99T Missense 3/13 - 1
2-203332289-TG-AT c.295_296delinsAT p.C99I Missense 3/13 - 1
2-203332289-TG-CA c.295_296inv p.C99H Missense 3/13 - 1
2-203332289-TG-CC c.295_296delinsCC p.C99P Missense 3/13 - 1
2-203332289-TG-CT c.295_296delinsCT p.C99L Missense 3/13 - 1
2-203332289-TG-GA c.295_296delinsGA p.C99D Missense 3/13 - 2
2-203332289-TG-GC c.295_296delinsGC p.C99A Missense 3/13 - 1
2-203332289-TG-GT c.295_296delinsGT p.C99V Missense 3/13 - 1
2-203332289-TGT-AAG c.295_297delinsAAG p.C99K Missense 3/13 - 1
2-203332289-TGT-ATG c.295_297delinsATG p.C99M Missense 3/13 - 1
2-203332289-TGT-CAA c.295_297delinsCAA p.C99Q Missense 3/13 - 1
2-203332289-TGT-GAG c.295_297delinsGAG p.C99E Missense 3/13 - 1
2-203332290-G-C c.296G>C p.C99S Missense 3/13 - 1
2-203332290-G-A c.296G>A p.C99Y Missense 3/13 - 3
2-203332290-G-T c.296G>T p.C99F Missense 3/13 - 5
2-203332291-T-C c.297T>C p.C99= Synonymous 3/13 - 1
2-203332291-T-G c.297T>G p.C99W Missense 3/13 - 1
2-203332288-ATG-A c.298_299del p.V100Sfs*19 Frameshift 3/13 - 1
2-203332292-G-A c.298G>A p.V100I Missense 3/13 - 1
2-203332292-G-C c.298G>C p.V100L Missense 3/13 - 1
2-203332292-G-T c.298G>T p.V100L Missense 3/13 - 1
2-203332292-GT-AA c.298_299delinsAA p.V100K Missense 3/13 - 1
2-203332292-GTA-AAC c.298_300delinsAAC p.V100N Missense 3/13 - 1
2-203332292-GTA-ATG c.298_300delinsATG p.V100M Missense 3/13 - 1
2-203332292-GT-AC c.298_299inv p.V100T Missense 3/13 - 1
2-203332292-GTA-CAT c.298_300delinsCAT p.V100H Missense 3/13 - 1
2-203332292-GT-AG c.298_299delinsAG p.V100R Missense 3/13 - 1
2-203332292-GTA-TAT c.298_300delinsTAT p.V100Y Missense 3/13 - 1
2-203332292-GTA-TGG c.298_300delinsTGG p.V100W Missense 3/13 - 1
2-203332292-GTA-TGT c.298_300delinsTGT p.V100C Missense 3/13 - 1
2-203332292-GTA-TTT c.298_300delinsTTT p.V100F Missense 3/13 - 1
2-203332292-GT-CA c.298_299delinsCA p.V100Q Missense 3/13 - 1
2-203332292-GT-CC c.298_299delinsCC p.V100P Missense 3/13 - 1
2-203332292-GT-TC c.298_299delinsTC p.V100S Missense 3/13 - 1
2-203332293-T-A c.299T>A p.V100E Missense 3/13 - 1
2-203332293-TA-AC c.299_300delinsAC p.V100D Missense 3/13 - 1
2-203332293-T-C c.299T>C p.V100A Missense 3/13 - 1
2-203332293-T-G c.299T>G p.V100G Missense 3/13 - 1
2-203332294-A-C c.300A>C p.V100= Synonymous 3/13 - 1
2-203332294-A-G c.300A>G p.V100= Synonymous 3/13 - 1
2-203332294-A-T c.300A>T p.V100= Synonymous 3/13 - 1
2-203332295-G-A c.301G>A p.V101I Missense 3/13 - 1
2-203332295-G-C c.301G>C p.V101L Missense 3/13 - 1
2-203332295-G-T c.301G>T p.V101L Missense 3/13 - 1
2-203332295-GT-AA c.301_302delinsAA p.V101K Missense 3/13 - 1
2-203332295-GTA-AAC c.301_303delinsAAC p.V101N Missense 3/13 - 1
2-203332295-GTA-ATG c.301_303delinsATG p.V101M Missense 3/13 - 1
2-203332295-GT-AC c.301_302inv p.V101T Missense 3/13 - 1
2-203332295-GTA-CAT c.301_303delinsCAT p.V101H Missense 3/13 - 1
2-203332295-GT-AG c.301_302delinsAG p.V101R Missense 3/13 - 1
2-203332295-GTA-TAT c.301_303delinsTAT p.V101Y Missense 3/13 - 1
2-203332295-GTA-TGG c.301_303delinsTGG p.V101W Missense 3/13 - 1
2-203332295-GTA-TGT c.301_303delinsTGT p.V101C Missense 3/13 - 1
2-203332295-GTA-TTT c.301_303delinsTTT p.V101F Missense 3/13 - 1
2-203332295-GT-CA c.301_302delinsCA p.V101Q Missense 3/13 - 1
2-203332295-GT-CC c.301_302delinsCC p.V101P Missense 3/13 - 1
2-203332295-GT-TC c.301_302delinsTC p.V101S Missense 3/13 - 1
2-203332296-T-A c.302T>A p.V101E Missense 3/13 - 1
2-203332296-TA-AC c.302_303delinsAC p.V101D Missense 3/13 - 1
2-203332296-T-C c.302T>C p.V101A Missense 3/13 - 2
2-203332296-T-G c.302T>G p.V101G Missense 3/13 - 1
2-203332298-A-C c.304A>C p.T102P Missense 3/13 - 1
2-203332298-AC-CA c.304_305delinsCA p.T102H Missense 3/13 - 1
2-203332298-AC-CT c.304_305delinsCT p.T102L Missense 3/13 - 1
2-203332298-AC-GA c.304_305delinsGA p.T102D Missense 3/13 - 1
2-203332298-AC-GG c.304_305delinsGG p.T102G Missense 3/13 - 1
2-203332298-AC-GT c.304_305inv p.T102V Missense 3/13 - 1
2-203332298-AC-TA c.304_305delinsTA p.T102Y Missense 3/13 - 1
2-203332298-ACT-CAA c.304_306delinsCAA p.T102Q Missense 3/13 - 1
2-203332298-AC-TG c.304_305delinsTG p.T102C Missense 3/13 - 1
2-203332298-ACT-GAG c.304_306delinsGAG p.T102E Missense 3/13 - 1
2-203332298-AC-TT c.304_305delinsTT p.T102F Missense 3/13 - 1
2-203332298-ACT-TGG c.304_306delinsTGG p.T102W Missense 3/13 - 1
2-203332298-A-G c.304A>G p.T102A Missense 3/13 - 4
2-203332298-A-T c.304A>T p.T102S Missense 3/13 - 2
2-203332299-C-A c.305C>A p.T102N Missense 3/13 - 1
2-203332299-C-G c.305C>G p.T102S Missense 3/13 - 3
2-203332299-C-T c.305C>T p.T102I Missense 3/13 - 1
2-203332299-CT-AG c.305_306inv p.T102K Missense 3/13 - 1
2-203332299-CT-GG c.305_306delinsGG p.T102R Missense 3/13 - 1
2-203332299-CT-TG c.305_306delinsTG p.T102M Missense 3/13 - 1
2-203332301-A-C c.307A>C p.T103P Missense 3/13 - 1
2-203332301-AC-CA c.307_308delinsCA p.T103H Missense 3/13 - 1
2-203332301-ACC-CAA c.307_309delinsCAA p.T103Q Missense 3/13 - 1
2-203332301-ACC-GAG c.307_309delinsGAG p.T103E Missense 3/13 - 1
2-203332301-AC-CT c.307_308delinsCT p.T103L Missense 3/13 - 1
2-203332301-ACC-TGG c.307_309delinsTGG p.T103W Missense 3/13 - 1
2-203332301-AC-GA c.307_308delinsGA p.T103D Missense 3/13 - 1
2-203332301-AC-GG c.307_308delinsGG p.T103G Missense 3/13 - 1
2-203332301-AC-GT c.307_308inv p.T103V Missense 3/13 - 1
2-203332301-AC-TA c.307_308delinsTA p.T103Y Missense 3/13 - 1
2-203332301-AC-TG c.307_308delinsTG p.T103C Missense 3/13 - 1
2-203332301-AC-TT c.307_308delinsTT p.T103F Missense 3/13 - 1
2-203332301-A-G c.307A>G p.T103A Missense 3/13 - 2
2-203332301-A-T c.307A>T p.T103S Missense 3/13 - 1
2-203332302-C-A c.308C>A p.T103N Missense 3/13 - 2
2-203332302-CC-AG c.308_309delinsAG p.T103K Missense 3/13 - 1
2-203332302-CC-GG c.308_309inv p.T103R Missense 3/13 - 1
2-203332302-CC-TG c.308_309delinsTG p.T103M Missense 3/13 - 1
2-203332302-C-G c.308C>G p.T103S Missense 3/13 - 1
2-203332302-C-T c.308C>T p.T103I Missense 3/13 - 1
2-203332304-A-C c.310A>C p.T104P Missense 3/13 - 2
2-203332304-AC-CA c.310_311delinsCA p.T104H Missense 3/13 - 1
2-203332304-AC-CT c.310_311delinsCT p.T104L Missense 3/13 - 1
2-203332304-AC-GA c.310_311delinsGA p.T104D Missense 3/13 - 1
2-203332304-AC-GG c.310_311delinsGG p.T104G Missense 3/13 - 1
2-203332304-AC-GT c.310_311inv p.T104V Missense 3/13 - 1
2-203332304-AC-TA c.310_311delinsTA p.T104Y Missense 3/13 - 1
2-203332304-ACT-CAA c.310_312delinsCAA p.T104Q Missense 3/13 - 1
2-203332304-AC-TG c.310_311delinsTG p.T104C Missense 3/13 - 1
2-203332304-ACT-GAG c.310_312delinsGAG p.T104E Missense 3/13 - 1
2-203332304-AC-TT c.310_311delinsTT p.T104F Missense 3/13 - 1
2-203332304-ACT-TGG c.310_312delinsTGG p.T104W Missense 3/13 - 1
2-203332304-A-G c.310A>G p.T104A Missense 3/13 - 1
2-203332304-A-T c.310A>T p.T104S Missense 3/13 - 1
2-203332305-C-A c.311C>A p.T104N Missense 3/13 - 1
2-203332305-C-G c.311C>G p.T104S Missense 3/13 - 1
2-203332305-C-T c.311C>T p.T104I Missense 3/13 - 1
2-203332305-CT-AG c.311_312inv p.T104K Missense 3/13 - 1
2-203332305-CT-GG c.311_312delinsGG p.T104R Missense 3/13 - 1
2-203332305-CT-TG c.311_312delinsTG p.T104M Missense 3/13 - 1
2-203332307-C-G c.313C>G p.P105A Missense 3/13 - 1
2-203332306-TC-T c.314del p.P105Lfs*47 Frameshift 3/13 - 1
2-203332308-C-T c.314C>T p.P105L Missense 3/13 - 1
2-203332310-C-T c.316C>T p.P106S Missense 3/13 - 2
2-203332313-T-C c.319T>C p.S107P Missense 3/13 - 6
2-203332314-C-A c.320C>A p.S107* Nonsense 3/13 - 1
2-203332314-C-G c.320C>G p.S107* Nonsense 3/13 - 2
2-203332314-C-T c.320C>T p.S107L Missense 3/13 - 1
2-203332316-A-G c.322A>G p.I108V Missense 3/13 - 2
2-203332319-C-T c.325C>T p.Q109* Nonsense 3/13 - 4
2-203332320-A-G c.326A>G p.Q109R Missense 3/13 - 1
2-203332321-G-A c.327G>A p.Q109= Synonymous 3/13 - 2
2-203332321-G-C c.327G>C p.Q109H Missense 3/13 - 2
2-203332322-AA-CC c.328_329delinsCC p.N110P Missense 3/13 - 1
2-203332322-AA-CT c.328_329delinsCT p.N110L Missense 3/13 - 1
2-203332322-AA-GC c.328_329delinsGC p.N110A Missense 3/13 - 1
2-203332322-AA-GG c.328_329delinsGG p.N110G Missense 3/13 - 1
2-203332322-AA-GT c.328_329delinsGT p.N110V Missense 3/13 - 1
2-203332322-AAT-CAA c.328_330delinsCAA p.N110Q Missense 3/13 - 2
2-203332322-AA-TG c.328_329delinsTG p.N110C Missense 3/13 - 1
2-203332322-AAT-GAG c.328_330delinsGAG p.N110E Missense 3/13 - 1
2-203332322-AA-TT c.328_329inv p.N110F Missense 3/13 - 1
2-203332322-AAT-TGG c.328_330delinsTGG p.N110W Missense 3/13 - 1
2-203332322-A-C c.328A>C p.N110H Missense 3/13 - 1
2-203332322-A-G c.328A>G p.N110D Missense 3/13 - 1
2-203332322-A-T c.328A>T p.N110Y Missense 3/13 - 1
2-203332323-A-C c.329A>C p.N110T Missense 3/13 - 1
2-203332323-A-G c.329A>G p.N110S Missense 3/13 - 1
2-203332323-A-T c.329A>T p.N110I Missense 3/13 - 1
2-203332323-AT-GG c.329_330delinsGG p.N110R Missense 3/13 - 1
2-203332323-AT-TG c.329_330delinsTG p.N110M Missense 3/13 - 1
2-203332324-T-A c.330T>A p.N110K Missense 3/13 - 1
2-203332324-T-G c.330T>G p.N110K Missense 3/13 - 1
2-203332325-G-A c.331G>A p.G111R Missense 3/13 - 1
2-203332325-G-C c.331G>C p.G111R Missense 3/13 - 1
2-203332325-GG-AA c.331_332delinsAA p.G111K Missense 3/13 - 1
2-203332325-GGA-AAC c.331_333delinsAAC p.G111N Missense 3/13 - 1
2-203332325-GGA-AGC c.331_333delinsAGC p.G111S Missense 3/13 - 1
2-203332325-GGA-ATG c.331_333delinsATG p.G111M Missense 3/13 - 1
2-203332325-GG-AC c.331_332delinsAC p.G111T Missense 3/13 - 1
2-203332325-GGA-CAT c.331_333delinsCAT p.G111H Missense 3/13 - 1
2-203332325-GG-AT c.331_332delinsAT p.G111I Missense 3/13 - 1
2-203332325-GGA-TAT c.331_333delinsTAT p.G111Y Missense 3/13 - 1
2-203332325-GGA-TGG c.331_333delinsTGG p.G111W Missense 3/13 - 1
2-203332325-GGA-TGT c.331_333delinsTGT p.G111C Missense 3/13 - 1
2-203332325-GGA-TTT c.331_333delinsTTT p.G111F Missense 3/13 - 1
2-203332325-GG-CA c.331_332delinsCA p.G111Q Missense 3/13 - 1
2-203332325-GG-CC c.331_332inv p.G111P Missense 3/13 - 1
2-203332325-GG-CT c.331_332delinsCT p.G111L Missense 3/13 - 1
2-203332326-G-A c.332G>A p.G111E Missense 3/13 - 1
2-203332326-GA-AC c.332_333delinsAC p.G111D Missense 3/13 - 1
2-203332326-G-C c.332G>C p.G111A Missense 3/13 - 1
2-203332326-G-T c.332G>T p.G111V Missense 3/13 - 1
2-203332328-A-C c.334A>C p.T112P Missense 3/13 - 1
2-203332328-ACA-CAT c.334_336delinsCAT p.T112H Missense 3/13 - 1
2-203332328-ACA-GAC c.334_336delinsGAC p.T112D Missense 3/13 - 1
2-203332328-ACA-TAT c.334_336delinsTAT p.T112Y Missense 3/13 - 1
2-203332328-ACA-TGG c.334_336delinsTGG p.T112W Missense 3/13 - 1
2-203332328-ACA-TGT c.334_336inv p.T112C Missense 3/13 - 1
2-203332328-ACA-TTT c.334_336delinsTTT p.T112F Missense 3/13 - 1
2-203332328-AC-CA c.334_335delinsCA p.T112Q Missense 3/13 - 1
2-203332328-AC-CT c.334_335delinsCT p.T112L Missense 3/13 - 1
2-203332328-AC-GA c.334_335delinsGA p.T112E Missense 3/13 - 1
2-203332328-AC-GG c.334_335delinsGG p.T112G Missense 3/13 - 1
2-203332328-AC-GT c.334_335inv p.T112V Missense 3/13 - 1
2-203332328-A-G c.334A>G p.T112A Missense 3/13 - 1
2-203332328-A-T c.334A>T p.T112S Missense 3/13 - 2
2-203332329-C-A c.335C>A p.T112K Missense 3/13 - 2
2-203332329-CA-AC c.335_336delinsAC p.T112N Missense 3/13 - 1
2-203332329-CA-TG c.335_336inv p.T112M Missense 3/13 - 1
2-203332329-C-G c.335C>G p.T112R Missense 3/13 - 1
2-203332329-C-T c.335C>T p.T112I Missense 3/13 - 2
2-203332330-A-C c.336A>C p.T112= Synonymous 3/13 - 1
2-203332330-A-G c.336A>G p.T112= Synonymous 3/13 - 1
2-203332330-A-T c.336A>T p.T112= Synonymous 3/13 - 1
2-203332331-T-A c.337T>A p.Y113N Missense 3/13 - 1
2-203332331-TA-AC c.337_338delinsAC p.Y113T Missense 3/13 - 1
2-203332331-TA-AT c.337_338delinsAT p.Y113I Missense 3/13 - 1
2-203332331-TAC-AAG c.337_339delinsAAG p.Y113K Missense 3/13 - 1
2-203332331-TAC-ATG c.337_339delinsATG p.Y113M Missense 3/13 - 1
2-203332331-TA-CC c.337_338delinsCC p.Y113P Missense 3/13 - 1
2-203332331-TAC-CAA c.337_339delinsCAA p.Y113Q Missense 3/13 - 1
2-203332331-TA-CG c.337_338delinsCG p.Y113R Missense 3/13 - 1
2-203332331-TAC-GAG c.337_339delinsGAG p.Y113E Missense 3/13 - 1
2-203332331-TA-CT c.337_338delinsCT p.Y113L Missense 3/13 - 1
2-203332331-TA-GC c.337_338delinsGC p.Y113A Missense 3/13 - 1
2-203332331-TA-GG c.337_338delinsGG p.Y113G Missense 3/13 - 1
2-203332331-TA-GT c.337_338delinsGT p.Y113V Missense 3/13 - 1
2-203332331-T-C c.337T>C p.Y113H Missense 3/13 - 1
2-203332331-T-G c.337T>G p.Y113D Missense 3/13 - 1
2-203332331-T-TA c.338dup p.Y113* Nonsense 3/13 - 3
2-203332332-A-C c.338A>C p.Y113S Missense 3/13 - 1
2-203332332-AC-GG c.338_339delinsGG p.Y113W Missense 3/13 - 1
2-203332332-A-G c.338A>G p.Y113C Missense 3/13 - 5
2-203332332-A-T c.338A>T p.Y113F Missense 3/13 - 1
2-203332333-C-A c.339C>A p.Y113* Nonsense 3/13 - 2
2-203332333-C-CAA c.339_340insAA p.R114Nfs*39 Frameshift 3/13 - 2
2-203332333-C-G c.339C>G p.Y113* Nonsense 3/13 - 2
2-203332334-C-A c.340C>A p.R114S Missense 3/13 - 1
2-203332334-C-G c.340C>G p.R114G Missense 3/13 - 1
2-203332334-CG-AA c.340_341delinsAA p.R114N Missense 3/13 - 1
2-203332334-CG-AC c.340_341delinsAC p.R114T Missense 3/13 - 1
2-203332334-CG-AT c.340_341delinsAT p.R114I Missense 3/13 - 1
2-203332334-CG-GA c.340_341delinsGA p.R114D Missense 3/13 - 1
2-203332334-CG-GC c.340_341delinsGC p.R114A Missense 3/13 - 1
2-203332334-CG-GT c.340_341delinsGT p.R114V Missense 3/13 - 1
2-203332334-CG-TA c.340_341delinsTA p.R114Y Missense 3/13 - 1
2-203332334-CGT-AAG c.340_342delinsAAG p.R114K Missense 3/13 - 1
2-203332334-CGT-ATG c.340_342delinsATG p.R114M Missense 3/13 - 1
2-203332334-CGT-GAG c.340_342delinsGAG p.R114E Missense 3/13 - 1
2-203332334-CG-TT c.340_341delinsTT p.R114F Missense 3/13 - 1
2-203332334-CGT-TGG c.340_342delinsTGG p.R114W Missense 3/13 - 1
2-203332334-C-T c.340C>T p.R114C Missense 3/13 - 4
2-203332335-G-A c.341G>A p.R114H Missense 3/13 - 1
2-203332335-G-C c.341G>C p.R114P Missense 3/13 - 1
2-203332335-G-T c.341G>T p.R114L Missense 3/13 - 1
2-203332335-GT-AA c.341_342delinsAA p.R114Q Missense 3/13 - 1
2-203332337-T-A c.343T>A p.F115I Missense 3/13 - 1
2-203332337-T-C c.343T>C p.F115L Missense 3/13 - 1
2-203332337-T-G c.343T>G p.F115V Missense 3/13 - 1
2-203332337-TT-AA c.343_344inv p.F115N Missense 3/13 - 1
2-203332337-TT-AC c.343_344delinsAC p.F115T Missense 3/13 - 1
2-203332337-TT-CA c.343_344delinsCA p.F115H Missense 3/13 - 1
2-203332337-TTC-AAG c.343_345delinsAAG p.F115K Missense 3/13 - 1
2-203332337-TTC-ATG c.343_345delinsATG p.F115M Missense 3/13 - 1
2-203332337-TT-CC c.343_344delinsCC p.F115P Missense 3/13 - 1
2-203332337-TTC-CAA c.343_345delinsCAA p.F115Q Missense 3/13 - 1
2-203332337-TT-CG c.343_344delinsCG p.F115R Missense 3/13 - 1
2-203332337-TTC-GAG c.343_345delinsGAG p.F115E Missense 3/13 - 1
2-203332337-TT-GA c.343_344delinsGA p.F115D Missense 3/13 - 1
2-203332337-TT-GC c.343_344delinsGC p.F115A Missense 3/13 - 1
2-203332337-TT-GG c.343_344delinsGG p.F115G Missense 3/13 - 1
2-203332339-C-A c.345C>A p.F115L Missense 3/13 - 2
2-203332339-C-G c.345C>G p.F115L Missense 3/13 - 1
2-203332335-G-GT c.344dup p.C116Lfs*4 Frameshift 3/13 - 2
2-203332338-T-A c.344T>A p.F115Y Missense 3/13 - 1
2-203332338-T-C c.344T>C p.F115S Missense 3/13 - 1
2-203332338-TC-GG c.344_345delinsGG p.F115W Missense 3/13 - 1
2-203332338-T-G c.344T>G p.F115C Missense 3/13 - 1
2-203332337-TTC-T c.345_346del p.F115Lfs*4 Frameshift 3/13 - 2
2-203332340-T-A c.346T>A p.C116S Missense 3/13 - 2
2-203332340-T-C c.346T>C p.C116R Missense 3/13 - 3
2-203332340-T-G c.346T>G p.C116G Missense 3/13 - 1
2-203332340-TG-AA c.346_347delinsAA p.C116N Missense 3/13 - 1
2-203332340-TG-AC c.346_347delinsAC p.C116T Missense 3/13 - 2
2-203332340-TG-AT c.346_347delinsAT p.C116I Missense 3/13 - 1
2-203332340-TG-CA c.346_347inv p.C116H Missense 3/13 - 1
2-203332340-TGC-AAG c.346_348delinsAAG p.C116K Missense 3/13 - 1
2-203332340-TGC-ATG c.346_348delinsATG p.C116M Missense 3/13 - 1
2-203332340-TG-CC c.346_347delinsCC p.C116P Missense 3/13 - 1
2-203332340-TGC-CAA c.346_348delinsCAA p.C116Q Missense 3/13 - 1
2-203332340-TGC-GAG c.346_348delinsGAG p.C116E Missense 3/13 - 1
2-203332340-TG-CT c.346_347delinsCT p.C116L Missense 3/13 - 1
2-203332340-TG-GA c.346_347delinsGA p.C116D Missense 3/13 - 1
2-203332340-TG-GC c.346_347delinsGC p.C116A Missense 3/13 - 1
2-203332340-TG-GT c.346_347delinsGT p.C116V Missense 3/13 - 1
2-203332341-G-C c.347G>C p.C116S Missense 3/13 - 2
2-203332341-G-A c.347G>A p.C116Y Missense 3/13 - 2
2-203332341-G-T c.347G>T p.C116F Missense 3/13 - 2
2-203332342-C-G c.348C>G p.C116W Missense 3/13 - 2
2-203332343-T-A c.349T>A p.C117S Missense 3/13 - 2
2-203332343-T-C c.349T>C p.C117R Missense 3/13 - 5
2-203332343-T-G c.349T>G p.C117G Missense 3/13 - 3
2-203332343-TG-AA c.349_350delinsAA p.C117N Missense 3/13 - 1
2-203332343-TG-AC c.349_350delinsAC p.C117T Missense 3/13 - 1
2-203332343-TG-AT c.349_350delinsAT p.C117I Missense 3/13 - 1
2-203332343-TG-CA c.349_350inv p.C117H Missense 3/13 - 1
2-203332343-TG-CC c.349_350delinsCC p.C117P Missense 3/13 - 1
2-203332343-TG-CT c.349_350delinsCT p.C117L Missense 3/13 - 1
2-203332343-TG-GA c.349_350delinsGA p.C117D Missense 3/13 - 1
2-203332343-TG-GC c.349_350delinsGC p.C117A Missense 3/13 - 1
2-203332343-TG-GT c.349_350delinsGT p.C117V Missense 3/13 - 1
2-203332343-TGT-AAG c.349_351delinsAAG p.C117K Missense 3/13 - 1
2-203332343-TGT-ATG c.349_351delinsATG p.C117M Missense 3/13 - 1
2-203332343-TGT-CAA c.349_351delinsCAA p.C117Q Missense 3/13 - 1
2-203332343-TGT-GAG c.349_351delinsGAG p.C117E Missense 3/13 - 1
2-203332344-G-A c.350G>A p.C117Y Missense 3/13 - 9
2-203332344-G-C c.350G>C p.C117S Missense 3/13 - 4
2-203332344-G-T c.350G>T p.C117F Missense 3/13 - 1
2-203332345-T-G c.351T>G p.C117W Missense 3/13 - 2
2-203332346-T-A c.352T>A p.C118S Missense 3/13 - 2
2-203332346-T-C c.352T>C p.C118R Missense 3/13 - 1
2-203332346-T-G c.352T>G p.C118G Missense 3/13 - 1
2-203332346-TG-AA c.352_353delinsAA p.C118N Missense 3/13 - 1
2-203332346-TG-AC c.352_353delinsAC p.C118T Missense 3/13 - 1
2-203332346-TG-AT c.352_353delinsAT p.C118I Missense 3/13 - 1
2-203332346-TG-CA c.352_353inv p.C118H Missense 3/13 - 1
2-203332346-TG-CC c.352_353delinsCC p.C118P Missense 3/13 - 1
2-203332346-TG-CT c.352_353delinsCT p.C118L Missense 3/13 - 1
2-203332346-TG-GA c.352_353delinsGA p.C118D Missense 3/13 - 1
2-203332346-TG-GC c.352_353delinsGC p.C118A Missense 3/13 - 1
2-203332346-TG-GT c.352_353delinsGT p.C118V Missense 3/13 - 1
2-203332346-TGT-AAG c.352_354delinsAAG p.C118K Missense 3/13 - 1
2-203332346-TGT-ATG c.352_354delinsATG p.C118M Missense 3/13 - 1
2-203332346-TGT-CAA c.352_354delinsCAA p.C118Q Missense 3/13 - 1
2-203332346-TGT-GAG c.352_354delinsGAG p.C118E Missense 3/13 - 1
2-203332347-G-C c.353G>C p.C118S Missense 3/13 - 2
2-203332347-G-A c.353G>A p.C118Y Missense 3/13 - 5
2-203332347-G-T c.353G>T p.C118F Missense 3/13 - 1
2-203332347-TG-T c.353del p.C118Lfs*34 Frameshift 3/13 - 2
2-203332348-T-A c.354T>A p.C118* Nonsense 3/13 - 1
2-203332348-T-G c.354T>G p.C118W Missense 3/13 - 27
2-203332349-A-G c.355A>G p.S119G Missense 3/13 - 2
2-203332349-AG-CA c.355_356delinsCA p.S119H Missense 3/13 - 1
2-203332349-AG-CC c.355_356delinsCC p.S119P Missense 3/13 - 1
2-203332349-AGC-CAA c.355_357delinsCAA p.S119Q Missense 3/13 - 1
2-203332349-AGC-GAG c.355_357delinsGAG p.S119E Missense 3/13 - 1
2-203332349-AG-CT c.355_356inv p.S119L Missense 3/13 - 1
2-203332349-AGC-TGG c.355_357delinsTGG p.S119W Missense 3/13 - 1
2-203332349-AG-GA c.355_356delinsGA p.S119D Missense 3/13 - 1
2-203332349-AG-GC c.355_356delinsGC p.S119A Missense 3/13 - 1
2-203332349-AG-GT c.355_356delinsGT p.S119V Missense 3/13 - 1
2-203332349-AG-TA c.355_356delinsTA p.S119Y Missense 3/13 - 1
2-203332349-AG-TT c.355_356delinsTT p.S119F Missense 3/13 - 1
2-203332349-A-T c.355A>T p.S119C Missense 3/13 - 1
2-203332349-TA-T c.355del p.S119Afs*33 Frameshift 3/13 - 1
2-203332350-G-A c.356G>A p.S119N Missense 3/13 - 1
2-203332350-G-C c.356G>C p.S119T Missense 3/13 - 2
2-203332350-GC-AG c.356_357delinsAG p.S119K Missense 3/13 - 1
2-203332350-GC-TG c.356_357delinsTG p.S119M Missense 3/13 - 1
2-203332350-G-T c.356G>T p.S119I Missense 3/13 - 1
2-203332349-A-C c.355A>C p.S119R Missense 3/13 - 1
2-203332351-C-A c.357C>A p.S119R Missense 3/13 - 1
2-203332351-C-G c.357C>G p.S119R Missense 3/13 - 2
2-203332352-A-C c.358A>C p.T120P Missense 3/13 - 1
2-203332352-ACA-CAT c.358_360delinsCAT p.T120H Missense 3/13 - 1
2-203332352-ACA-GAC c.358_360delinsGAC p.T120D Missense 3/13 - 1
2-203332352-ACA-TAT c.358_360delinsTAT p.T120Y Missense 3/13 - 1
2-203332352-ACA-TGG c.358_360delinsTGG p.T120W Missense 3/13 - 1
2-203332352-ACA-TGT c.358_360inv p.T120C Missense 3/13 - 1
2-203332352-ACA-TTT c.358_360delinsTTT p.T120F Missense 3/13 - 1
2-203332352-AC-CA c.358_359delinsCA p.T120Q Missense 3/13 - 1
2-203332352-AC-CT c.358_359delinsCT p.T120L Missense 3/13 - 1
2-203332352-AC-GA c.358_359delinsGA p.T120E Missense 3/13 - 1
2-203332352-AC-GG c.358_359delinsGG p.T120G Missense 3/13 - 1
2-203332352-AC-GT c.358_359inv p.T120V Missense 3/13 - 1
2-203332352-A-G c.358A>G p.T120A Missense 3/13 - 1
2-203332352-A-T c.358A>T p.T120S Missense 3/13 - 1
2-203332350-GCA-G c.359_360del p.T120Rfs*4 Frameshift 3/13 - 1
2-203332353-C-A c.359C>A p.T120K Missense 3/13 - 1
2-203332353-CA-AC c.359_360delinsAC p.T120N Missense 3/13 - 1
2-203332353-CA-TG c.359_360inv p.T120M Missense 3/13 - 1
2-203332353-C-G c.359C>G p.T120R Missense 3/13 - 1
2-203332353-C-T c.359C>T p.T120I Missense 3/13 - 1
2-203332355-G-A c.361G>A p.D121N Missense 3/13 - 1
2-203332355-GA-AC c.361_362delinsAC p.D121T Missense 3/13 - 1
2-203332355-GA-AG c.361_362delinsAG p.D121S Missense 3/13 - 1
2-203332355-GA-AT c.361_362delinsAT p.D121I Missense 3/13 - 1
2-203332355-GA-CC c.361_362delinsCC p.D121P Missense 3/13 - 1
2-203332355-GA-CG c.361_362delinsCG p.D121R Missense 3/13 - 1
2-203332355-GA-CT c.361_362delinsCT p.D121L Missense 3/13 - 1
2-203332355-GAT-AAG c.361_363delinsAAG p.D121K Missense 3/13 - 1
2-203332355-GAT-ATG c.361_363delinsATG p.D121M Missense 3/13 - 1
2-203332355-GAT-CAA c.361_363delinsCAA p.D121Q Missense 3/13 - 1
2-203332355-GA-TG c.361_362delinsTG p.D121C Missense 3/13 - 1
2-203332355-GA-TT c.361_362delinsTT p.D121F Missense 3/13 - 1
2-203332355-GAT-TGG c.361_363delinsTGG p.D121W Missense 3/13 - 1
2-203332355-G-C c.361G>C p.D121H Missense 3/13 - 1
2-203332355-G-T c.361G>T p.D121Y Missense 3/13 - 2
2-203332356-A-C c.362A>C p.D121A Missense 3/13 - 1
2-203332356-A-G c.362A>G p.D121G Missense 3/13 - 1
2-203332356-A-T c.362A>T p.D121V Missense 3/13 - 1
2-203332357-T-A c.363T>A p.D121E Missense 3/13 - 1
2-203332357-T-G c.363T>G p.D121E Missense 3/13 - 1
2-203332358-T-A c.364T>A p.L122I Missense 3/13 - 1
2-203332358-T-G c.364T>G p.L122V Missense 3/13 - 1
2-203332358-TT-AA c.364_365inv p.L122K Missense 3/13 - 1
2-203332358-TTA-AAC c.364_366delinsAAC p.L122N Missense 3/13 - 1
2-203332358-TTA-ATG c.364_366delinsATG p.L122M Missense 3/13 - 1
2-203332358-TT-AC c.364_365delinsAC p.L122T Missense 3/13 - 1
2-203332358-TTA-CAT c.364_366delinsCAT p.L122H Missense 3/13 - 1
2-203332358-TT-AG c.364_365delinsAG p.L122R Missense 3/13 - 1
2-203332358-TTA-GAC c.364_366delinsGAC p.L122D Missense 3/13 - 1
2-203332358-TT-CA c.364_365delinsCA p.L122Q Missense 3/13 - 1
2-203332358-TT-CC c.364_365delinsCC p.L122P Missense 3/13 - 1
2-203332358-TT-GA c.364_365delinsGA p.L122E Missense 3/13 - 1
2-203332358-TT-GC c.364_365delinsGC p.L122A Missense 3/13 - 1
2-203332358-TT-GG c.364_365delinsGG p.L122G Missense 3/13 - 1
2-203332359-TA-AT c.365_366delinsAT p.L122Y Missense 3/13 - 1
2-203332359-TA-GG c.365_366delinsGG p.L122W Missense 3/13 - 1
2-203332359-TA-GT c.365_366delinsGT p.L122C Missense 3/13 - 1
2-203332359-T-C c.365T>C p.L122S Missense 3/13 - 6
2-203332360-A-C c.366A>C p.L122F Missense 3/13 - 1
2-203332360-A-T c.366A>T p.L122F Missense 3/13 - 1
2-203332361-T-A c.367T>A p.C123S Missense 3/13 - 8
2-203332361-T-C c.367T>C p.C123R Missense 3/13 - 11
2-203332361-T-G c.367T>G p.C123G Missense 3/13 - 1
2-203332361-TG-AA c.367_368delinsAA p.C123N Missense 3/13 - 1
2-203332361-TG-AC c.367_368delinsAC p.C123T Missense 3/13 - 1
2-203332361-TG-AT c.367_368delinsAT p.C123I Missense 3/13 - 1
2-203332361-TG-CA c.367_368inv p.C123H Missense 3/13 - 1
2-203332361-TG-CC c.367_368delinsCC p.C123P Missense 3/13 - 1
2-203332361-TG-CT c.367_368delinsCT p.C123L Missense 3/13 - 1
2-203332361-TG-GA c.367_368delinsGA p.C123D Missense 3/13 - 1
2-203332361-TG-GC c.367_368delinsGC p.C123A Missense 3/13 - 1
2-203332361-TG-GT c.367_368delinsGT p.C123V Missense 3/13 - 1
2-203332361-TGT-AAG c.367_369delinsAAG p.C123K Missense 3/13 - 1
2-203332361-TGT-ATG c.367_369delinsATG p.C123M Missense 3/13 - 1
2-203332361-TGT-CAA c.367_369delinsCAA p.C123Q Missense 3/13 - 1
2-203332361-TGT-GAG c.367_369delinsGAG p.C123E Missense 3/13 - 1
2-203332362-G-C c.368G>C p.C123S Missense 3/13 - 7
2-203332362-G-A c.368G>A p.C123Y Missense 3/13 - 2
2-203332362-G-T c.368G>T p.C123F Missense 3/13 - 1
2-203332363-T-G c.369T>G p.C123W Missense 3/13 - 1
2-203332364-AA-CC c.370_371delinsCC p.N124P Missense 3/13 - 1
2-203332364-AA-CT c.370_371delinsCT p.N124L Missense 3/13 - 1
2-203332364-AA-GC c.370_371delinsGC p.N124A Missense 3/13 - 1
2-203332364-AA-GG c.370_371delinsGG p.N124G Missense 3/13 - 1
2-203332364-AA-GT c.370_371delinsGT p.N124V Missense 3/13 - 1
2-203332364-AAT-CAA c.370_372delinsCAA p.N124Q Missense 3/13 - 1
2-203332364-AA-TG c.370_371delinsTG p.N124C Missense 3/13 - 1
2-203332364-AAT-GAG c.370_372delinsGAG p.N124E Missense 3/13 - 1
2-203332364-AA-TT c.370_371inv p.N124F Missense 3/13 - 1
2-203332364-AAT-TGG c.370_372delinsTGG p.N124W Missense 3/13 - 1
2-203332364-A-C c.370A>C p.N124H Missense 3/13 - 1
2-203332364-A-G c.370A>G p.N124D Missense 3/13 - 4
2-203332364-A-T c.370A>T p.N124Y Missense 3/13 - 1
2-203332363-T-TA c.371dup p.N124Kfs*6 Frameshift 3/13 - 1
2-203332365-A-C c.371A>C p.N124T Missense 3/13 - 1
2-203332365-A-G c.371A>G p.N124S Missense 3/13 - 2
2-203332365-A-T c.371A>T p.N124I Missense 3/13 - 1
2-203332365-AT-GG c.371_372delinsGG p.N124R Missense 3/13 - 1
2-203332365-AT-TG c.371_372delinsTG p.N124M Missense 3/13 - 1
2-203332366-T-A c.372T>A p.N124K Missense 3/13 - 1
2-203332366-T-G c.372T>G p.N124K Missense 3/13 - 1
2-203332367-G-A c.373G>A p.V125I Missense 3/13 - 2
2-203332367-G-C c.373G>C p.V125L Missense 3/13 - 1
2-203332367-G-T c.373G>T p.V125F Missense 3/13 - 1
2-203332367-GT-AA c.373_374delinsAA p.V125N Missense 3/13 - 1
2-203332367-GT-AC c.373_374inv p.V125T Missense 3/13 - 1
2-203332367-GT-AG c.373_374delinsAG p.V125S Missense 3/13 - 1
2-203332367-GT-CA c.373_374delinsCA p.V125H Missense 3/13 - 1
2-203332367-GTC-AAG c.373_375delinsAAG p.V125K Missense 3/13 - 1
2-203332367-GTC-ATG c.373_375delinsATG p.V125M Missense 3/13 - 2
2-203332367-GT-CC c.373_374delinsCC p.V125P Missense 3/13 - 1
2-203332367-GTC-CAA c.373_375delinsCAA p.V125Q Missense 3/13 - 1
2-203332367-GT-CG c.373_374delinsCG p.V125R Missense 3/13 - 1
2-203332367-GTC-TGG c.373_375delinsTGG p.V125W Missense 3/13 - 1
2-203332367-GT-TA c.373_374delinsTA p.V125Y Missense 3/13 - 1
2-203332367-GT-TG c.373_374delinsTG p.V125C Missense 3/13 - 1
2-203332368-T-A c.374T>A p.V125D Missense 3/13 - 1
2-203332368-T-C c.374T>C p.V125A Missense 3/13 - 1
2-203332368-TC-AG c.374_375delinsAG p.V125E Missense 3/13 - 1
2-203332368-T-G c.374T>G p.V125G Missense 3/13 - 1
2-203332370-AA-CC c.376_377delinsCC p.N126P Missense 3/13 - 1
2-203332370-AAC-CAA c.376_378delinsCAA p.N126Q Missense 3/13 - 2
2-203332370-AAC-GAG c.376_378delinsGAG p.N126E Missense 3/13 - 1
2-203332370-AA-CT c.376_377delinsCT p.N126L Missense 3/13 - 1
2-203332370-AAC-TGG c.376_378delinsTGG p.N126W Missense 3/13 - 1
2-203332370-AA-GC c.376_377delinsGC p.N126A Missense 3/13 - 1
2-203332370-AA-GG c.376_377delinsGG p.N126G Missense 3/13 - 1
2-203332370-AA-GT c.376_377delinsGT p.N126V Missense 3/13 - 1
2-203332370-AA-TG c.376_377delinsTG p.N126C Missense 3/13 - 1
2-203332370-AA-TT c.376_377inv p.N126F Missense 3/13 - 1
2-203332370-A-C c.376A>C p.N126H Missense 3/13 - 1
2-203332370-A-G c.376A>G p.N126D Missense 3/13 - 1
2-203332370-A-T c.376A>T p.N126Y Missense 3/13 - 1
2-203332371-A-C c.377A>C p.N126T Missense 3/13 - 1
2-203332371-AC-GG c.377_378delinsGG p.N126R Missense 3/13 - 1
2-203332371-AC-TG c.377_378delinsTG p.N126M Missense 3/13 - 1
2-203332371-A-G c.377A>G p.N126S Missense 3/13 - 14
2-203332371-A-T c.377A>T p.N126I Missense 3/13 - 1
2-203332372-C-A c.378C>A p.N126K Missense 3/13 - 1
2-203332372-C-G c.378C>G p.N126K Missense 3/13 - 1
2-203332373-T-A c.379T>A p.F127I Missense 3/13 - 1
2-203332373-T-C c.379T>C p.F127L Missense 3/13 - 1
2-203332373-T-G c.379T>G p.F127V Missense 3/13 - 1
2-203332373-TT-AA c.379_380inv p.F127N Missense 3/13 - 1
2-203332373-TT-AC c.379_380delinsAC p.F127T Missense 3/13 - 1
2-203332373-TT-CA c.379_380delinsCA p.F127H Missense 3/13 - 1
2-203332373-TT-CC c.379_380delinsCC p.F127P Missense 3/13 - 1
2-203332373-TT-CG c.379_380delinsCG p.F127R Missense 3/13 - 1
2-203332373-TT-GA c.379_380delinsGA p.F127D Missense 3/13 - 1
2-203332373-TT-GC c.379_380delinsGC p.F127A Missense 3/13 - 1
2-203332373-TT-GG c.379_380delinsGG p.F127G Missense 3/13 - 1
2-203332373-TTT-AAG c.379_381delinsAAG p.F127K Missense 3/13 - 1
2-203332373-TTT-ATG c.379_381delinsATG p.F127M Missense 3/13 - 1
2-203332373-TTT-CAA c.379_381delinsCAA p.F127Q Missense 3/13 - 1
2-203332373-TTT-GAG c.379_381delinsGAG p.F127E Missense 3/13 - 1
2-203332375-T-A c.381T>A p.F127L Missense 3/13 - 1
2-203332375-T-G c.381T>G p.F127L Missense 3/13 - 1
2-203332374-T-A c.380T>A p.F127Y Missense 3/13 - 1
2-203332374-T-C c.380T>C p.F127S Missense 3/13 - 1
2-203332374-T-G c.380T>G p.F127C Missense 3/13 - 1
2-203332374-TT-GG c.380_381delinsGG p.F127W Missense 3/13 - 1
2-203332376-A-C c.382A>C p.T128P Missense 3/13 - 1
2-203332376-AC-CA c.382_383delinsCA p.T128H Missense 3/13 - 1
2-203332376-AC-CT c.382_383delinsCT p.T128L Missense 3/13 - 1
2-203332376-AC-GA c.382_383delinsGA p.T128D Missense 3/13 - 1
2-203332376-AC-GG c.382_383delinsGG p.T128G Missense 3/13 - 1
2-203332376-AC-GT c.382_383inv p.T128V Missense 3/13 - 1
2-203332376-AC-TA c.382_383delinsTA p.T128Y Missense 3/13 - 1
2-203332376-ACT-CAA c.382_384delinsCAA p.T128Q Missense 3/13 - 1
2-203332376-AC-TG c.382_383delinsTG p.T128C Missense 3/13 - 1
2-203332376-ACT-GAG c.382_384delinsGAG p.T128E Missense 3/13 - 1
2-203332376-AC-TT c.382_383delinsTT p.T128F Missense 3/13 - 1
2-203332376-ACT-TGG c.382_384delinsTGG p.T128W Missense 3/13 - 1
2-203332376-A-G c.382A>G p.T128A Missense 3/13 - 1
2-203332376-A-T c.382A>T p.T128S Missense 3/13 - 1
2-203332377-C-A c.383C>A p.T128N Missense 3/13 - 1
2-203332377-C-G c.383C>G p.T128S Missense 3/13 - 1
2-203332377-C-T c.383C>T p.T128I Missense 3/13 - 1
2-203332377-CT-AG c.383_384inv p.T128K Missense 3/13 - 1
2-203332377-CT-GG c.383_384delinsGG p.T128R Missense 3/13 - 1
2-203332377-CT-TG c.383_384delinsTG p.T128M Missense 3/13 - 1
2-203332379-G-A c.385G>A p.E129K Missense 3/13 - 1
2-203332379-GA-AC c.385_386delinsAC p.E129T Missense 3/13 - 1
2-203332379-GA-AG c.385_386delinsAG p.E129R Missense 3/13 - 1
2-203332379-GA-AT c.385_386delinsAT p.E129M Missense 3/13 - 1
2-203332379-GA-CC c.385_386delinsCC p.E129P Missense 3/13 - 1
2-203332379-GA-CT c.385_386delinsCT p.E129L Missense 3/13 - 1
2-203332379-GAG-AAC c.385_387delinsAAC p.E129N Missense 3/13 - 1
2-203332379-GAG-ATC c.385_387delinsATC p.E129I Missense 3/13 - 1
2-203332379-GAG-CAT c.385_387delinsCAT p.E129H Missense 3/13 - 1
2-203332379-GAG-TAT c.385_387delinsTAT p.E129Y Missense 3/13 - 1
2-203332379-GAG-TGT c.385_387delinsTGT p.E129C Missense 3/13 - 1
2-203332379-GAG-TTT c.385_387delinsTTT p.E129F Missense 3/13 - 1
2-203332379-GA-TC c.385_386inv p.E129S Missense 3/13 - 1
2-203332379-GA-TG c.385_386delinsTG p.E129W Missense 3/13 - 1
2-203332379-G-C c.385G>C p.E129Q Missense 3/13 - 1
2-203332380-A-C c.386A>C p.E129A Missense 3/13 - 1
2-203332380-A-G c.386A>G p.E129G Missense 3/13 - 1
2-203332380-A-T c.386A>T p.E129V Missense 3/13 - 1
2-203332381-G-C c.387G>C p.E129D Missense 3/13 - 2
2-203332381-G-T c.387G>T p.E129D Missense 3/13 - 2
2-203332382-AA-CC c.388_389delinsCC p.N130P Missense 3/13 - 1
2-203332382-AA-CT c.388_389delinsCT p.N130L Missense 3/13 - 1
2-203332382-AA-GC c.388_389delinsGC p.N130A Missense 3/13 - 1
2-203332382-AA-GG c.388_389delinsGG p.N130G Missense 3/13 - 1
2-203332382-AA-GT c.388_389delinsGT p.N130V Missense 3/13 - 1
2-203332382-AAT-CAA c.388_390delinsCAA p.N130Q Missense 3/13 - 1
2-203332382-AA-TG c.388_389delinsTG p.N130C Missense 3/13 - 1
2-203332382-AAT-GAG c.388_390delinsGAG p.N130E Missense 3/13 - 1
2-203332382-AA-TT c.388_389inv p.N130F Missense 3/13 - 1
2-203332382-AAT-TGG c.388_390delinsTGG p.N130W Missense 3/13 - 1
2-203332382-A-C c.388A>C p.N130H Missense 3/13 - 1
2-203332382-A-G c.388A>G p.N130D Missense 3/13 - 1
2-203332382-A-T c.388A>T p.N130Y Missense 3/13 - 1
2-203332383-A-C c.389A>C p.N130T Missense 3/13 - 1
2-203332383-A-G c.389A>G p.N130S Missense 3/13 - 6
2-203332383-A-T c.389A>T p.N130I Missense 3/13 - 1
2-203332383-AT-GG c.389_390delinsGG p.N130R Missense 3/13 - 1
2-203332383-AT-TG c.389_390delinsTG p.N130M Missense 3/13 - 1
2-203332384-T-A c.390T>A p.N130K Missense 3/13 - 1
2-203332384-T-G c.390T>G p.N130K Missense 3/13 - 1
2-203332385-T-A c.391T>A p.F131I Missense 3/13 - 1
2-203332385-T-C c.391T>C p.F131L Missense 3/13 - 1
2-203332385-T-G c.391T>G p.F131V Missense 3/13 - 1
2-203332385-TT-AA c.391_392inv p.F131N Missense 3/13 - 1
2-203332385-TT-AC c.391_392delinsAC p.F131T Missense 3/13 - 1
2-203332385-TT-CA c.391_392delinsCA p.F131H Missense 3/13 - 1
2-203332385-TT-CC c.391_392delinsCC p.F131P Missense 3/13 - 1
2-203332385-TT-CG c.391_392delinsCG p.F131R Missense 3/13 - 1
2-203332385-TT-GA c.391_392delinsGA p.F131D Missense 3/13 - 1
2-203332385-TT-GC c.391_392delinsGC p.F131A Missense 3/13 - 1
2-203332385-TT-GG c.391_392delinsGG p.F131G Missense 3/13 - 1
2-203332385-TTT-AAG c.391_393delinsAAG p.F131K Missense 3/13 - 1
2-203332385-TTT-ATG c.391_393delinsATG p.F131M Missense 3/13 - 1
2-203332385-TTT-CAA c.391_393delinsCAA p.F131Q Missense 3/13 - 1
2-203332385-TTT-GAG c.391_393delinsGAG p.F131E Missense 3/13 - 1
2-203332387-T-A c.393T>A p.F131L Missense 3/13 - 1
2-203332387-T-G c.393T>G p.F131L Missense 3/13 - 1
2-203332386-T-A c.392T>A p.F131Y Missense 3/13 - 1
2-203332386-T-C c.392T>C p.F131S Missense 3/13 - 1
2-203332386-T-G c.392T>G p.F131C Missense 3/13 - 1
2-203332386-TT-GG c.392_393delinsGG p.F131W Missense 3/13 - 1
2-203332383-AT-A c.393del p.P132Hfs*20 Frameshift 3/13 - 1
2-203332388-C-G c.394C>G p.P132A Missense 3/13 - 1
2-203332389-C-T c.395C>T p.P132L Missense 3/13 - 1
2-203332391-C-T c.397C>T p.P133S Missense 3/13 - 1
2-203332393-CT-C c.399del p.P134Lfs*18 Frameshift 3/13 - 3
2-203332395-C-G c.401C>G p.P134R Missense 3/13 - 1
2-203332395-C-T c.401C>T p.P134L Missense 3/13 - 1
2-203332396-T-A c.402T>A p.P134= Synonymous 3/13 - 1
2-203332396-T-C c.402T>C p.P134= Synonymous 3/13 - 1
2-203332396-T-G c.402T>G p.P134= Synonymous 3/13 - 1
2-203332397-G-A c.403G>A p.D135N Missense 3/13 - 1
2-203332398-A-G c.404A>G p.D135G Missense 3/13 - 1
2-203332400-A-T c.406A>T p.T136S Missense 3/13 - 2
2-203332397-GACACA-G c.408_412del p.P138Qfs*7 Frameshift 3/13 - 2
2-203332403-A-C c.409A>C p.T137P Missense 3/13 - 1
2-203332405-A-C c.411A>C p.T137= Synonymous 3/13 - 1
2-203332405-A-G c.411A>G p.T137= Synonymous 3/13 - 1
2-203332405-A-T c.411A>T p.T137= Synonymous 3/13 - 1
2-203332406-C-G c.412C>G p.P138A Missense 3/13 - 2
2-203332406-C-T c.412C>T p.P138S Missense 3/13 - 2
2-203332407-C-T c.413C>T p.P138L Missense 3/13 - 1
2-203332408-A-C c.414A>C p.P138= Synonymous 3/13 - 1
2-203332408-A-G c.414A>G p.P138= Synonymous 3/13 - 1
2-203332408-A-T c.414A>T p.P138= Synonymous 3/13 - 1
2-203332409-CT-AG c.415_416inv p.L139S Missense 3/13 - 1
2-203332409-CTCAG-C c.417_418+2del - SpliceDonorDeletion 3/13 3/12 2
2-203332413-G-C c.418+1G>C - IntronicSNV - 3/12 2
2-203332413-G-T c.418+1G>T - IntronicSNV - 3/12 2
2-203332414-GTAA-G c.418+2_418+4del - IntronicDeletion - 3/12 1
2-203332414-T-C c.418+2T>C - IntronicSNV - 3/12 1
2-203332415-A-T c.418+3A>T - IntronicSNV - 3/12 2
2-203332411-CAGTA-C c.418+5_418+8del - IntronicDeletion - 3/12 1
2-203332417-G-A c.418+5G>A - IntronicSNV - 3/12 5
2-203332630-G-T c.418+218G>T - IntronicSNV - 3/12 1
2-203332768-GA-G c.418+366del - IntronicDeletion - 3/12 1
2-203333406-T-C c.418+994T>C - IntronicSNV - 3/12 1
2-203334572-A-G c.418+2160A>G - IntronicSNV - 3/12 5
2-203334571-GA-G c.418+2166del - IntronicDeletion - 3/12 1
2-203338174-TA-T c.418+5771del - IntronicDeletion - 3/12 1
2-203338245-G-A c.418+5833G>A - IntronicSNV - 3/12 2
2-203338245-G-T c.418+5833G>T - IntronicSNV - 3/12 2
2-203341496-GAGCGAGACTCAAAAAAAATAAATAAAATAAGTTAAATAATAGTTGAACAGACACAACTT-G c.418+9084_418+9142del - Unclassified - 3/12 1
2-203345150-C-T c.418+12738C>T - IntronicSNV - 3/12 1
2-203352937-A-G c.418+20525A>G - IntronicSNV - 3/12 2
2-203353182-C-CA c.418+20777dup - IntronicInsertion - 3/12 1
2-203355391-G-A c.418+22979G>A - IntronicSNV - 3/12 1
2-203358214-T-C c.419-20228T>C - IntronicSNV - 3/12 4
2-203378440-A-T c.419-2A>T - IntronicSNV - 3/12 1
2-203378442-G-T c.419G>T p.S140I Missense 4/13 - 1
2-203332412-A-C c.418A>C p.S140R Missense 3/13 - 1
2-203378443-T-A c.420T>A p.S140R Missense 4/13 - 1
2-203378443-T-G c.420T>G p.S140R Missense 4/13 - 1
2-203378443-T-TG c.420_421insG p.P141Afs*6 SpliceAcceptorInsertion 4/13 - 1
2-203378445-C-T c.422C>T p.P141L Missense 4/13 - 1
2-203378447-C-T c.424C>T p.P142S Missense 4/13 - 1
2-203378450-C-T c.427C>T p.H143Y Missense 4/13 - 1
2-203378454-C-T c.431C>T p.S144L Missense 4/13 - 1
2-203378455-AT-A c.435del p.F145Lfs*7 Frameshift 4/13 - 3
2-203378460-A-G c.437A>G p.N146S Missense 4/13 - 1
2-203378460-A-T c.437A>T p.N146I Missense 4/13 - 1
2-203378461-C-T c.438C>T p.N146= Synonymous 4/13 - 1
2-203378462-C-G c.439C>G p.R147G Missense 4/13 - 1
2-203378462-C-T c.439C>T p.R147* Nonsense 4/13 - 12
2-203378463-G-A c.440G>A p.R147Q Missense 4/13 - 7
2-203378463-GA-AT c.440_441delinsAT p.R147H Missense 4/13 - 1
2-203378465-G-A c.442G>A p.D148N Missense 4/13 - 1
2-203378465-G-T c.442G>T p.D148Y Missense 4/13 - 1
2-203378471-A-AC c.449dup p.I151Nfs*30 Frameshift 4/13 - 1
2-203378472-C-T c.449C>T p.T150I Missense 4/13 - 1
2-203378472-CA-C c.451del p.I151* Frameshift 4/13 - 1
2-203378474-A-G c.451A>G p.I151V Missense 4/13 - 1
2-203378475-T-C c.452T>C p.I151T Missense 4/13 - 1
2-203378477-A-G c.454A>G p.I152V Missense 4/13 - 1
2-203378478-T-G c.455T>G p.I152S Missense 4/13 - 1
2-203378480-AT-A c.459del p.I153Mfs*9 Frameshift 4/13 - 2
2-203378482-T-G c.459T>G p.I153M Missense 4/13 - 1
2-203378484-C-G c.461C>G p.A154G Missense 4/13 - 1
2-203378486-T-C c.463T>C p.L155= Synonymous 4/13 - 1
2-203378488-G-A c.465G>A p.L155= Synonymous 4/13 - 2
2-203378487-T-A c.464T>A p.L155* Nonsense 4/13 - 4
2-203378489-G-T c.466G>T p.A156S Missense 4/13 - 1
2-203378491-A-C c.468A>C p.A156= Synonymous 4/13 - 2
2-203378491-A-G c.468A>G p.A156= Synonymous 4/13 - 3
2-203378491-A-T c.468A>T p.A156= Synonymous 4/13 - 2
2-203378493-C-G c.470C>G p.S157* Nonsense 4/13 - 2
2-203378496-T-C c.473T>C p.V158A Missense 4/13 - 1
2-203378498-TC-CT c.475_476delinsCT p.S159L Missense 4/13 - 1
2-203378498-T-G c.475T>G p.S159A Missense 4/13 - 1
2-203378501-G-GT c.479dup p.L161Ifs*20 Frameshift 4/13 - 1
2-203378502-T-A c.479T>A p.V160E Missense 4/13 - 1
2-203378502-T-C c.479T>C p.V160A Missense 4/13 - 1
2-203378505-T-A c.482T>A p.L161* Nonsense 4/13 - 2
2-203378507-G-A c.484G>A p.A162T Missense 4/13 - 1
2-203378507-G-C c.484G>C p.A162P Missense 4/13 - 2
2-203378509-T-A c.486T>A p.A162= Synonymous 4/13 - 1
2-203378511-T-C c.488T>C p.V163A Missense 4/13 - 1
2-203378513-T-TAA c.490_491insAA p.L164* Nonsense 4/13 - 1
2-203378513-TTG-CAT c.490_492delinsCAT p.L164H Missense 4/13 - 1
2-203378510-GT-G c.491del p.L164* Frameshift 4/13 - 1
2-203378514-T-A c.491T>A p.L164* Nonsense 4/13 - 1
2-203378515-G-C c.492G>C p.L164F Missense 4/13 - 1
2-203378515-G-T c.492G>T p.L164F Missense 4/13 - 1
2-203378518-A-C c.495A>C p.I165= Synonymous 4/13 - 1
2-203378518-A-T c.495A>T p.I165= Synonymous 4/13 - 1
2-203378519-G-A c.496G>A p.V166I Missense 4/13 - 2
2-203378519-GTT-ATG c.496_498delinsATG p.V166M Missense 4/13 - 1
2-203378520-T-C c.497T>C p.V166A Missense 4/13 - 1
2-203378519-GT-G c.498del p.A167Pfs*9 Frameshift 4/13 - 1
2-203378523-C-T c.500C>T p.A167V Missense 4/13 - 1
2-203378525-T-G c.502T>G p.L168V Missense 4/13 - 1
2-203378524-C-CT c.503dup p.L168Ffs*13 Frameshift 4/13 - 1
2-203378527-A-AT c.505dup p.C169Lfs*12 Frameshift 4/13 - 1
2-203378528-TG-AC c.505_506delinsAC p.C169T Missense 4/13 - 1
2-203378530-C-A c.507C>A p.C169* Nonsense 4/13 - 3
2-203378530-C-T c.507C>T p.C169= Synonymous 4/13 - 1
2-203378530-CTTT-AAA c.507_510delinsAAA p.C169* Frameshift 4/13 - 1
2-203378534-G-A c.511G>A p.G171R Missense 4/13 - 2
2-203378534-G-C c.511G>C p.G171R Missense 4/13 - 2
2-203378534-G-T c.511G>T p.G171* Nonsense 4/13 - 1
2-203378538-A-G c.515A>G p.Y172C Missense 4/13 - 1
2-203378539-C-A c.516C>A p.Y172* Nonsense 4/13 - 3
2-203378539-C-G c.516C>G p.Y172* Nonsense 4/13 - 4
2-203378540-AGA-TGG c.517_519delinsTGG p.R173W Missense 4/13 - 1
2-203378540-CA-C c.517del p.R173Efs*3 Frameshift 4/13 - 1
2-203378546-T-G c.523T>G p.L175V Missense 4/13 - 1
2-203378548-G-C c.525G>C p.L175F Missense 4/13 - 1
2-203378548-G-T c.525G>T p.L175F Missense 4/13 - 1
2-203378550-C-T c.527C>T p.T176I Missense 4/13 - 1
2-203378551-CA-C c.528del p.G177Efs*10 Frameshift 4/13 - 2
2-203378553-G-A c.529+1G>A - IntronicSNV - 4/12 1
2-203378553-G-GT c.529+2dup - IntronicInsertion - 4/12 2
2-203378554-T-C c.529+2T>C - IntronicSNV - 4/12 2
2-203378555-A-G c.529+3A>G - IntronicSNV - 4/12 1
2-203378605-A-G c.529+53A>G - IntronicSNV - 4/12 1
2-203378616-C-G c.529+64C>G - IntronicSNV - 4/12 2
2-203378616-C-T c.529+64C>T - IntronicSNV - 4/12 2
2-203378691-A-T c.529+139A>T - IntronicSNV - 4/12 1
2-203379615-C-A c.534C>A p.D178E Missense 5/13 - 1
2-203379615-C-G c.534C>G p.D178E Missense 5/13 - 1
2-203379615-C-T c.534C>T p.D178= Synonymous 5/13 - 1
2-203379616-CGTAAACAAGGTC-ATG c.535_547delinsATG p.R179Mfs*5 Frameshift 5/13 - 1
2-203379616-CGT-AAG c.535_537delinsAAG p.R179K Missense 5/13 - 1
2-203379616-CGT-TGA c.535_537delinsTGA p.R179* Nonsense 5/13 - 2
2-203379616-C-T c.535C>T p.R179C Missense 5/13 - 4
2-203379617-G-A c.536G>A p.R179H Missense 5/13 - 2
2-203379620-A-G c.539A>G p.K180R Missense 5/13 - 1
2-203379620-A-T c.539A>T p.K180I Missense 5/13 - 1
2-203379621-A-C c.540A>C p.K180N Missense 5/13 - 1
2-203379621-A-T c.540A>T p.K180N Missense 5/13 - 1
2-203379622-C-T c.541C>T p.Q181* Nonsense 5/13 - 2
2-203379625-G-T c.544G>T p.G182C Missense 5/13 - 1
2-203379626-G-A c.545G>A p.G182D Missense 5/13 - 5
2-203379631-C-T c.550C>T p.H184Y Missense 5/13 - 1
2-203379631-C-CA c.551dup p.H184Qfs*16 Frameshift 5/13 - 1
2-203379632-A-T c.551A>T p.H184L Missense 5/13 - 1
2-203379632-CACAGTATGAACATGATGGAGGCA-C c.551_573del p.H184Rfs*8 Frameshift 5/13 - 1
2-203379633-C-T c.552C>T p.H184= Synonymous 5/13 - 1
2-203379634-AG-TT c.553_554delinsTT p.S185F Missense 5/13 - 1
2-203379634-AGT-TGA c.553_555delinsTGA p.S185* Nonsense 5/13 - 1
2-203379634-A-T c.553A>T p.S185C Missense 5/13 - 1
2-203379635-G-A c.554G>A p.S185N Missense 5/13 - 1
2-203379637-A-G c.556A>G p.M186V Missense 5/13 - 3
2-203379641-A-G c.560A>G p.N187S Missense 5/13 - 3
2-203379651-G-C c.570G>C p.E190D Missense 5/13 - 1
2-203379651-G-T c.570G>T p.E190D Missense 5/13 - 1
2-203379652-G-A c.571G>A p.A191T Missense 5/13 - 1
2-203379653-C-G c.572C>G p.A191G Missense 5/13 - 1
2-203379654-A-G c.573A>G p.A191= Synonymous 5/13 - 1
2-203379655-G-A c.574G>A p.A192T Missense 5/13 - 2
2-203379657-A-G c.576A>G p.A192= Synonymous 5/13 - 1
2-203379659-C-T c.578C>T p.A193V Missense 5/13 - 1
2-203379662-C-G c.581C>G p.S194C Missense 5/13 - 1
2-203379663-C-A c.582C>A p.S194= Synonymous 5/13 - 2
2-203379663-C-G c.582C>G p.S194= Synonymous 5/13 - 2
2-203379663-C-T c.582C>T p.S194= Synonymous 5/13 - 2
2-203379664-G-A c.583G>A p.E195K Missense 5/13 - 9
2-203379664-G-T c.583G>T p.E195* Nonsense 5/13 - 4
2-203379668-C-T c.587C>T p.P196L Missense 5/13 - 2
2-203379671-C-T c.590C>T p.S197F Missense 5/13 - 4
2-203379672-T-G c.591T>G p.S197= Synonymous 5/13 - 1
2-203379674-CTT-C c.593_594del p.L198Rfs*4 Frameshift 5/13 - 1
2-203379676-G-A c.595G>A p.D199N Missense 5/13 - 1
2-203379676-G-T c.595G>T p.D199Y Missense 5/13 - 1
2-203379677-A-T c.596A>T p.D199V Missense 5/13 - 1
2-203379679-C-A c.598C>A p.L200I Missense 5/13 - 1
2-203379679-C-G c.598C>G p.L200V Missense 5/13 - 1
2-203379679-CT-AA c.598_599delinsAA p.L200K Missense 5/13 - 1
2-203379679-CTA-AAC c.598_600delinsAAC p.L200N Missense 5/13 - 1
2-203379679-CTA-ATG c.598_600delinsATG p.L200M Missense 5/13 - 1
2-203379679-CT-AC c.598_599delinsAC p.L200T Missense 5/13 - 1
2-203379679-CTA-GAC c.598_600delinsGAC p.L200D Missense 5/13 - 1
2-203379679-CTA-TAT c.598_600delinsTAT p.L200Y Missense 5/13 - 1
2-203379679-CTA-TGG c.598_600delinsTGG p.L200W Missense 5/13 - 1
2-203379679-CTA-TGT c.598_600delinsTGT p.L200C Missense 5/13 - 1
2-203379679-CTA-TTT c.598_600delinsTTT p.L200F Missense 5/13 - 1
2-203379679-CT-GA c.598_599delinsGA p.L200E Missense 5/13 - 1
2-203379679-CT-GC c.598_599delinsGC p.L200A Missense 5/13 - 1
2-203379679-CT-GG c.598_599delinsGG p.L200G Missense 5/13 - 1
2-203379679-CT-TC c.598_599delinsTC p.L200S Missense 5/13 - 1
2-203379680-T-A c.599T>A p.L200Q Missense 5/13 - 1
2-203379680-TA-AT c.599_600delinsAT p.L200H Missense 5/13 - 1
2-203379680-T-C c.599T>C p.L200P Missense 5/13 - 1
2-203379680-T-G c.599T>G p.L200R Missense 5/13 - 1
2-203379679-C-T c.598C>T p.L200= Synonymous 5/13 - 2
2-203379681-A-C c.600A>C p.L200= Synonymous 5/13 - 6
2-203379681-A-G c.600A>G p.L200= Synonymous 5/13 - 1
2-203379681-A-T c.600A>T p.L200= Synonymous 5/13 - 1
2-203379682-G-A c.601G>A p.D201N Missense 5/13 - 1
2-203379682-GA-AC c.601_602delinsAC p.D201T Missense 5/13 - 1
2-203379682-GA-AG c.601_602delinsAG p.D201S Missense 5/13 - 1
2-203379682-GA-AT c.601_602delinsAT p.D201I Missense 5/13 - 1
2-203379682-GA-CC c.601_602delinsCC p.D201P Missense 5/13 - 1
2-203379682-GA-CG c.601_602delinsCG p.D201R Missense 5/13 - 1
2-203379682-GA-CT c.601_602delinsCT p.D201L Missense 5/13 - 1
2-203379682-GAT-AAG c.601_603delinsAAG p.D201K Missense 5/13 - 1
2-203379682-GAT-ATG c.601_603delinsATG p.D201M Missense 5/13 - 1
2-203379682-GAT-CAA c.601_603delinsCAA p.D201Q Missense 5/13 - 1
2-203379682-GA-TG c.601_602delinsTG p.D201C Missense 5/13 - 1
2-203379682-GA-TT c.601_602delinsTT p.D201F Missense 5/13 - 1
2-203379682-GAT-TGG c.601_603delinsTGG p.D201W Missense 5/13 - 1
2-203379682-G-C c.601G>C p.D201H Missense 5/13 - 2
2-203379682-G-T c.601G>T p.D201Y Missense 5/13 - 2
2-203379683-A-C c.602A>C p.D201A Missense 5/13 - 1
2-203379683-A-G c.602A>G p.D201G Missense 5/13 - 1
2-203379683-A-T c.602A>T p.D201V Missense 5/13 - 1
2-203379684-T-A c.603T>A p.D201E Missense 5/13 - 1
2-203379684-T-G c.603T>G p.D201E Missense 5/13 - 1
2-203379685-AA-CC c.604_605delinsCC p.N202P Missense 5/13 - 1
2-203379685-AA-CT c.604_605delinsCT p.N202L Missense 5/13 - 1
2-203379685-AA-GC c.604_605delinsGC p.N202A Missense 5/13 - 1
2-203379685-AA-GG c.604_605delinsGG p.N202G Missense 5/13 - 1
2-203379685-AA-GT c.604_605delinsGT p.N202V Missense 5/13 - 1
2-203379685-AAT-CAA c.604_606delinsCAA p.N202Q Missense 5/13 - 1
2-203379685-AA-TG c.604_605delinsTG p.N202C Missense 5/13 - 1
2-203379685-AAT-GAG c.604_606delinsGAG p.N202E Missense 5/13 - 1
2-203379685-AA-TT c.604_605inv p.N202F Missense 5/13 - 1
2-203379685-AAT-TGG c.604_606delinsTGG p.N202W Missense 5/13 - 1
2-203379685-A-C c.604A>C p.N202H Missense 5/13 - 1
2-203379685-A-G c.604A>G p.N202D Missense 5/13 - 1
2-203379685-A-T c.604A>T p.N202Y Missense 5/13 - 5
2-203379686-A-C c.605A>C p.N202T Missense 5/13 - 1
2-203379686-A-G c.605A>G p.N202S Missense 5/13 - 1
2-203379686-A-T c.605A>T p.N202I Missense 5/13 - 2
2-203379686-AT-GG c.605_606delinsGG p.N202R Missense 5/13 - 1
2-203379686-AT-TG c.605_606delinsTG p.N202M Missense 5/13 - 1
2-203379687-T-A c.606T>A p.N202K Missense 5/13 - 2
2-203379687-T-G c.606T>G p.N202K Missense 5/13 - 2
2-203379688-C-A c.607C>A p.L203M Missense 5/13 - 2
2-203379688-C-G c.607C>G p.L203V Missense 5/13 - 3
2-203379688-CT-AA c.607_608delinsAA p.L203K Missense 5/13 - 1
2-203379688-CT-AC c.607_608delinsAC p.L203T Missense 5/13 - 1
2-203379688-CT-GA c.607_608delinsGA p.L203E Missense 5/13 - 1
2-203379688-CTG-AAC c.607_609delinsAAC p.L203N Missense 5/13 - 1
2-203379688-CTG-ATC c.607_609delinsATC p.L203I Missense 5/13 - 1
2-203379688-CT-GC c.607_608delinsGC p.L203A Missense 5/13 - 1
2-203379688-CT-GG c.607_608delinsGG p.L203G Missense 5/13 - 1
2-203379688-CTG-GAC c.607_609delinsGAC p.L203D Missense 5/13 - 1
2-203379688-CTG-TAT c.607_609delinsTAT p.L203Y Missense 5/13 - 1
2-203379688-CTG-TGT c.607_609delinsTGT p.L203C Missense 5/13 - 1
2-203379688-CTG-TTT c.607_609delinsTTT p.L203F Missense 5/13 - 1
2-203379688-CT-TC c.607_608delinsTC p.L203S Missense 5/13 - 1
2-203379688-CT-TG c.607_608delinsTG p.L203W Missense 5/13 - 1
2-203379689-CTG-C c.608_609del p.L203Qfs*16 Frameshift 5/13 - 1
2-203379689-T-A c.608T>A p.L203Q Missense 5/13 - 1
2-203379689-T-C c.608T>C p.L203P Missense 5/13 - 1
2-203379689-T-G c.608T>G p.L203R Missense 5/13 - 1
2-203379689-TG-AT c.608_609delinsAT p.L203H Missense 5/13 - 1
2-203379691-AAA-CAT c.610_612delinsCAT p.K204H Missense 5/13 - 1
2-203379691-AAA-GAC c.610_612delinsGAC p.K204D Missense 5/13 - 1
2-203379691-AAA-TAT c.610_612delinsTAT p.K204Y Missense 5/13 - 1
2-203379691-AAA-TGG c.610_612delinsTGG p.K204W Missense 5/13 - 1
2-203379691-AAA-TGT c.610_612delinsTGT p.K204C Missense 5/13 - 1
2-203379691-AAA-TTT c.610_612inv p.K204F Missense 5/13 - 1
2-203379691-AA-CC c.610_611delinsCC p.K204P Missense 5/13 - 1
2-203379691-AA-CT c.610_611delinsCT p.K204L Missense 5/13 - 1
2-203379691-AA-GC c.610_611delinsGC p.K204A Missense 5/13 - 1
2-203379691-AA-GG c.610_611delinsGG p.K204G Missense 5/13 - 1
2-203379691-AA-GT c.610_611delinsGT p.K204V Missense 5/13 - 1
2-203379691-A-C c.610A>C p.K204Q Missense 5/13 - 1
2-203379691-A-G c.610A>G p.K204E Missense 5/13 - 1
2-203379692-AA-GC c.611_612delinsGC p.K204S Missense 5/13 - 1
2-203379692-AA-TG c.611_612delinsTG p.K204M Missense 5/13 - 1
2-203379692-A-C c.611A>C p.K204T Missense 5/13 - 1
2-203379692-A-G c.611A>G p.K204R Missense 5/13 - 1
2-203379692-A-T c.611A>T p.K204I Missense 5/13 - 1
2-203379690-GA-G c.612del p.K204Nfs*5 Frameshift 5/13 - 2
2-203379693-A-C c.612A>C p.K204N Missense 5/13 - 2
2-203379693-A-T c.612A>T p.K204N Missense 5/13 - 2
2-203379694-C-A c.613C>A p.L205M Missense 5/13 - 1
2-203379694-C-G c.613C>G p.L205V Missense 5/13 - 1
2-203379694-C-T c.613C>T p.L205= Synonymous 5/13 - 1
2-203379694-CT-AA c.613_614delinsAA p.L205K Missense 5/13 - 1
2-203379694-CT-AC c.613_614delinsAC p.L205T Missense 5/13 - 1
2-203379694-CT-GA c.613_614delinsGA p.L205E Missense 5/13 - 1
2-203379694-CTG-AAC c.613_615delinsAAC p.L205N Missense 5/13 - 1
2-203379694-CTG-ATC c.613_615delinsATC p.L205I Missense 5/13 - 1
2-203379694-CT-GC c.613_614delinsGC p.L205A Missense 5/13 - 1
2-203379694-CT-GG c.613_614delinsGG p.L205G Missense 5/13 - 1
2-203379694-CTG-GAC c.613_615delinsGAC p.L205D Missense 5/13 - 1
2-203379694-CTG-TAT c.613_615delinsTAT p.L205Y Missense 5/13 - 1
2-203379694-CTG-TGT c.613_615delinsTGT p.L205C Missense 5/13 - 1
2-203379694-CTG-TTT c.613_615delinsTTT p.L205F Missense 5/13 - 1
2-203379694-CT-TC c.613_614delinsTC p.L205S Missense 5/13 - 1
2-203379694-CT-TG c.613_614delinsTG p.L205W Missense 5/13 - 1
2-203379695-T-A c.614T>A p.L205Q Missense 5/13 - 1
2-203379695-T-C c.614T>C p.L205P Missense 5/13 - 2
2-203379695-T-G c.614T>G p.L205R Missense 5/13 - 1
2-203379695-TG-AT c.614_615delinsAT p.L205H Missense 5/13 - 1
2-203379697-T-A c.616T>A p.L206M Missense 5/13 - 1
2-203379697-T-G c.616T>G p.L206V Missense 5/13 - 1
2-203379697-TT-AA c.616_617inv p.L206K Missense 5/13 - 1
2-203379697-TT-AC c.616_617delinsAC p.L206T Missense 5/13 - 1
2-203379697-TT-AG c.616_617delinsAG p.L206R Missense 5/13 - 1
2-203379697-TT-CA c.616_617delinsCA p.L206Q Missense 5/13 - 1
2-203379697-TT-CC c.616_617delinsCC p.L206P Missense 5/13 - 1
2-203379697-TT-GA c.616_617delinsGA p.L206E Missense 5/13 - 1
2-203379697-TTG-AAC c.616_618delinsAAC p.L206N Missense 5/13 - 1
2-203379697-TTG-ATC c.616_618delinsATC p.L206I Missense 5/13 - 1
2-203379697-TT-GC c.616_617delinsGC p.L206A Missense 5/13 - 1
2-203379697-TTG-CAT c.616_618delinsCAT p.L206H Missense 5/13 - 1
2-203379697-TT-GG c.616_617delinsGG p.L206G Missense 5/13 - 1
2-203379697-TTG-GAC c.616_618delinsGAC p.L206D Missense 5/13 - 1
2-203379698-T-C c.617T>C p.L206S Missense 5/13 - 1
2-203379698-T-G c.617T>G p.L206W Missense 5/13 - 1
2-203379698-TG-AT c.617_618delinsAT p.L206Y Missense 5/13 - 1
2-203379698-TG-GT c.617_618delinsGT p.L206C Missense 5/13 - 1
2-203379699-G-C c.618G>C p.L206F Missense 5/13 - 1
2-203379699-G-T c.618G>T p.L206F Missense 5/13 - 1
2-203379698-T-TG c.619dup p.E207Gfs*13 SpliceDonorInsertion 5/13 - 2
2-203379700-G-A c.619G>A p.E207K Missense 5/13 - 1
2-203379700-GA-AC c.619_620delinsAC p.E207T Missense 5/13 - 1
2-203379700-GA-AG c.619_620delinsAG p.E207R Missense 5/13 - 1
2-203379700-GA-AT c.619_620delinsAT p.E207M Missense 5/13 - 1
2-203379700-GA-CC c.619_620delinsCC p.E207P Missense 5/13 - 1
2-203379700-GA-CT c.619_620delinsCT p.E207L Missense 5/13 - 1
2-203379700-GAG-AAC c.619_621delinsAAC p.E207N Missense 5/13 - 1
2-203379700-GAG-ATC c.619_621delinsATC p.E207I Missense 5/13 - 1
2-203379700-GAG-CAT c.619_621delinsCAT p.E207H Missense 5/13 - 1
2-203379700-GAG-TAT c.619_621delinsTAT p.E207Y Missense 5/13 - 1
2-203379700-GAG-TGT c.619_621delinsTGT p.E207C Missense 5/13 - 1
2-203379700-GAG-TTT c.619_621delinsTTT p.E207F Missense 5/13 - 1
2-203379700-GA-TC c.619_620inv p.E207S Missense 5/13 - 1
2-203379700-GA-TG c.619_620delinsTG p.E207W Missense 5/13 - 1
2-203379700-G-C c.619G>C p.E207Q Missense 5/13 - 1
2-203379701-A-C c.620A>C p.E207A Missense 5/13 - 1
2-203379701-A-G c.620A>G p.E207G Missense 5/13 - 1
2-203379701-A-T c.620A>T p.E207V Missense 5/13 - 1
2-203379702-G-C c.621G>C p.E207D Missense 5/13 - 2
2-203379702-G-T c.621G>T p.E207D Missense 5/13 - 2
2-203379703-G-A c.621+1G>A - IntronicSNV - 5/12 2
2-203379703-G-C c.621+1G>C - IntronicSNV - 5/12 2
2-203379703-G-T c.621+1G>T - IntronicSNV - 5/12 1
2-203379710-T-C c.621+8T>C - IntronicSNV - 5/12 2
2-203379714-G-A c.621+12G>A - IntronicSNV - 5/12 1
2-203379739-C-G c.621+37C>G - IntronicSNV - 5/12 1
2-203379805-C-G c.621+103C>G - IntronicSNV - 5/12 2
2-203381371-CA-C c.621+1679del - IntronicDeletion - 5/12 1
2-203383545-C-A c.622C>A p.L208M Missense 6/13 - 1
2-203383545-C-G c.622C>G p.L208V Missense 6/13 - 1
2-203383545-CT-AA c.622_623delinsAA p.L208K Missense 6/13 - 1
2-203383545-CT-AC c.622_623delinsAC p.L208T Missense 6/13 - 1
2-203383545-CT-GA c.622_623delinsGA p.L208E Missense 6/13 - 1
2-203383545-CTG-AAC c.622_624delinsAAC p.L208N Missense 6/13 - 1
2-203383545-CTG-ATC c.622_624delinsATC p.L208I Missense 6/13 - 1
2-203383545-CT-GC c.622_623delinsGC p.L208A Missense 6/13 - 1
2-203383545-CT-GG c.622_623delinsGG p.L208G Missense 6/13 - 1
2-203383545-CTG-GAC c.622_624delinsGAC p.L208D Missense 6/13 - 1
2-203383545-CTG-TAT c.622_624delinsTAT p.L208Y Missense 6/13 - 1
2-203383545-CTG-TGT c.622_624delinsTGT p.L208C Missense 6/13 - 1
2-203383545-CTG-TTT c.622_624delinsTTT p.L208F Missense 6/13 - 1
2-203383545-CT-TC c.622_623delinsTC p.L208S Missense 6/13 - 1
2-203383545-CT-TG c.622_623delinsTG p.L208W Missense 6/13 - 1
2-203383546-T-A c.623T>A p.L208Q Missense 6/13 - 1
2-203383546-T-C c.623T>C p.L208P Missense 6/13 - 1
2-203383546-T-G c.623T>G p.L208R Missense 6/13 - 1
2-203383546-TG-AT c.623_624delinsAT p.L208H Missense 6/13 - 1
2-203383545-C-T c.622C>T p.L208= Synonymous 6/13 - 1
2-203383547-G-A c.624G>A p.L208= Synonymous 6/13 - 1
2-203383547-G-C c.624G>C p.L208= Synonymous 6/13 - 1
2-203383547-G-T c.624G>T p.L208= Synonymous 6/13 - 1
2-203383548-A-C c.625A>C p.I209L Missense 6/13 - 1
2-203383548-A-G c.625A>G p.I209V Missense 6/13 - 1
2-203383548-A-T c.625A>T p.I209F Missense 6/13 - 1
2-203383548-AT-CA c.625_626delinsCA p.I209H Missense 6/13 - 1
2-203383548-AT-CC c.625_626delinsCC p.I209P Missense 6/13 - 1
2-203383548-AT-GA c.625_626delinsGA p.I209D Missense 6/13 - 1
2-203383548-AT-GC c.625_626delinsGC p.I209A Missense 6/13 - 1
2-203383548-AT-GG c.625_626delinsGG p.I209G Missense 6/13 - 1
2-203383548-AT-TA c.625_626delinsTA p.I209Y Missense 6/13 - 1
2-203383548-ATT-CAA c.625_627delinsCAA p.I209Q Missense 6/13 - 1
2-203383548-AT-TG c.625_626delinsTG p.I209C Missense 6/13 - 1
2-203383548-ATT-GAG c.625_627delinsGAG p.I209E Missense 6/13 - 1
2-203383548-ATT-TGG c.625_627delinsTGG p.I209W Missense 6/13 - 1
2-203383549-T-A c.626T>A p.I209N Missense 6/13 - 1
2-203383549-T-C c.626T>C p.I209T Missense 6/13 - 1
2-203383549-T-G c.626T>G p.I209S Missense 6/13 - 1
2-203383549-TT-AG c.626_627delinsAG p.I209K Missense 6/13 - 1
2-203383549-TT-GG c.626_627delinsGG p.I209R Missense 6/13 - 1
2-203383550-T-G c.627T>G p.I209M Missense 6/13 - 1
2-203383551-G-A c.628G>A p.G210S Missense 6/13 - 2
2-203383551-G-C c.628G>C p.G210R Missense 6/13 - 1
2-203383551-GG-AA c.628_629delinsAA p.G210N Missense 6/13 - 1
2-203383551-GG-AC c.628_629delinsAC p.G210T Missense 6/13 - 1
2-203383551-GG-AT c.628_629delinsAT p.G210I Missense 6/13 - 1
2-203383551-GG-CA c.628_629delinsCA p.G210H Missense 6/13 - 1
2-203383551-GGC-AAG c.628_630delinsAAG p.G210K Missense 6/13 - 1
2-203383551-GGC-ATG c.628_630delinsATG p.G210M Missense 6/13 - 1
2-203383551-GG-CC c.628_629inv p.G210P Missense 6/13 - 1
2-203383551-GGC-CAA c.628_630delinsCAA p.G210Q Missense 6/13 - 1
2-203383551-GG-CT c.628_629delinsCT p.G210L Missense 6/13 - 1
2-203383551-GGC-TGG c.628_630delinsTGG p.G210W Missense 6/13 - 1
2-203383551-GG-TA c.628_629delinsTA p.G210Y Missense 6/13 - 1
2-203383551-GG-TT c.628_629delinsTT p.G210F Missense 6/13 - 1
2-203383551-G-T c.628G>T p.G210C Missense 6/13 - 1
2-203383552-G-A c.629G>A p.G210D Missense 6/13 - 1
2-203383552-G-C c.629G>C p.G210A Missense 6/13 - 1
2-203383552-GC-AG c.629_630delinsAG p.G210E Missense 6/13 - 1
2-203383552-G-T c.629G>T p.G210V Missense 6/13 - 1
2-203383554-C-A c.631C>A p.R211= Synonymous 6/13 - 3
2-203383554-C-G c.631C>G p.R211G Missense 6/13 - 1
2-203383554-CG-AA c.631_632delinsAA p.R211K Missense 6/13 - 1
2-203383554-CGA-AAC c.631_633delinsAAC p.R211N Missense 6/13 - 1
2-203383554-CGA-AGC c.631_633delinsAGC p.R211S Missense 6/13 - 1
2-203383554-CGA-ATG c.631_633delinsATG p.R211M Missense 6/13 - 1
2-203383554-CG-AC c.631_632delinsAC p.R211T Missense 6/13 - 1
2-203383554-CGA-GAC c.631_633delinsGAC p.R211D Missense 6/13 - 1
2-203383554-CG-AT c.631_632delinsAT p.R211I Missense 6/13 - 1
2-203383554-CGA-TAT c.631_633delinsTAT p.R211Y Missense 6/13 - 1
2-203383554-CGA-TGG c.631_633delinsTGG p.R211W Missense 6/13 - 1
2-203383554-CGA-TGT c.631_633delinsTGT p.R211C Missense 6/13 - 1
2-203383554-CGA-TTT c.631_633delinsTTT p.R211F Missense 6/13 - 1
2-203383554-CG-GA c.631_632delinsGA p.R211E Missense 6/13 - 1
2-203383554-CG-GC c.631_632delinsGC p.R211A Missense 6/13 - 1
2-203383554-CG-GT c.631_632delinsGT p.R211V Missense 6/13 - 1
2-203383554-C-T c.631C>T p.R211* Nonsense 6/13 - 18
2-203383556-A-C c.633A>C p.R211= Synonymous 6/13 - 3
2-203383556-A-G c.633A>G p.R211= Synonymous 6/13 - 3
2-203383556-A-T c.633A>T p.R211= Synonymous 6/13 - 3
2-203383555-G-A c.632G>A p.R211Q Missense 6/13 - 4
2-203383555-GA-AT c.632_633delinsAT p.R211H Missense 6/13 - 1
2-203383555-G-C c.632G>C p.R211P Missense 6/13 - 1
2-203383555-G-T c.632G>T p.R211L Missense 6/13 - 1
2-203383557-G-A c.634G>A p.G212S Missense 6/13 - 1
2-203383557-G-C c.634G>C p.G212R Missense 6/13 - 1
2-203383557-GG-AA c.634_635delinsAA p.G212N Missense 6/13 - 1
2-203383557-GG-AC c.634_635delinsAC p.G212T Missense 6/13 - 1
2-203383557-GG-AT c.634_635delinsAT p.G212I Missense 6/13 - 1
2-203383557-GG-CA c.634_635delinsCA p.G212H Missense 6/13 - 1
2-203383557-GG-CC c.634_635inv p.G212P Missense 6/13 - 1
2-203383557-GG-CT c.634_635delinsCT p.G212L Missense 6/13 - 1
2-203383557-GG-TA c.634_635delinsTA p.G212Y Missense 6/13 - 1
2-203383557-GGT-AAG c.634_636delinsAAG p.G212K Missense 6/13 - 1
2-203383557-GGT-ATG c.634_636delinsATG p.G212M Missense 6/13 - 1
2-203383557-GGT-CAA c.634_636delinsCAA p.G212Q Missense 6/13 - 1
2-203383557-GG-TT c.634_635delinsTT p.G212F Missense 6/13 - 1
2-203383557-GGT-TGG c.634_636delinsTGG p.G212W Missense 6/13 - 1
2-203383557-G-T c.634G>T p.G212C Missense 6/13 - 1
2-203383558-G-A c.635G>A p.G212D Missense 6/13 - 4
2-203383558-G-C c.635G>C p.G212A Missense 6/13 - 1
2-203383558-G-T c.635G>T p.G212V Missense 6/13 - 1
2-203383558-GT-AG c.635_636delinsAG p.G212E Missense 6/13 - 1
2-203383560-C-A c.637C>A p.R213= Synonymous 6/13 - 3
2-203383560-C-G c.637C>G p.R213G Missense 6/13 - 3
2-203383560-CG-AA c.637_638delinsAA p.R213K Missense 6/13 - 1
2-203383560-CGA-AAC c.637_639delinsAAC p.R213N Missense 6/13 - 1
2-203383560-CGA-AGC c.637_639delinsAGC p.R213S Missense 6/13 - 1
2-203383560-CGA-ATG c.637_639delinsATG p.R213M Missense 6/13 - 1
2-203383560-CG-AC c.637_638delinsAC p.R213T Missense 6/13 - 1
2-203383560-CGA-GAC c.637_639delinsGAC p.R213D Missense 6/13 - 1
2-203383560-CG-AT c.637_638delinsAT p.R213I Missense 6/13 - 1
2-203383560-CGA-TAT c.637_639delinsTAT p.R213Y Missense 6/13 - 1
2-203383560-CGA-TGG c.637_639delinsTGG p.R213W Missense 6/13 - 1
2-203383560-CGA-TGT c.637_639delinsTGT p.R213C Missense 6/13 - 1
2-203383560-CGA-TTT c.637_639delinsTTT p.R213F Missense 6/13 - 1
2-203383560-CG-GA c.637_638delinsGA p.R213E Missense 6/13 - 1
2-203383560-CG-GC c.637_638delinsGC p.R213A Missense 6/13 - 1
2-203383560-CG-GT c.637_638delinsGT p.R213V Missense 6/13 - 1
2-203383560-C-T c.637C>T p.R213* Nonsense 6/13 - 11
2-203383562-A-C c.639A>C p.R213= Synonymous 6/13 - 2
2-203383562-A-G c.639A>G p.R213= Synonymous 6/13 - 2
2-203383562-A-T c.639A>T p.R213= Synonymous 6/13 - 2
2-203383561-G-A c.638G>A p.R213Q Missense 6/13 - 2
2-203383561-GA-AT c.638_639delinsAT p.R213H Missense 6/13 - 1
2-203383561-G-C c.638G>C p.R213P Missense 6/13 - 1
2-203383561-G-T c.638G>T p.R213L Missense 6/13 - 1
2-203383563-T-A c.640T>A p.Y214N Missense 6/13 - 1
2-203383563-TA-AC c.640_641delinsAC p.Y214T Missense 6/13 - 1
2-203383563-TA-AT c.640_641delinsAT p.Y214I Missense 6/13 - 1
2-203383563-TA-CC c.640_641delinsCC p.Y214P Missense 6/13 - 1
2-203383563-TA-CG c.640_641delinsCG p.Y214R Missense 6/13 - 1
2-203383563-TA-CT c.640_641delinsCT p.Y214L Missense 6/13 - 1
2-203383563-TA-GC c.640_641delinsGC p.Y214A Missense 6/13 - 1
2-203383563-TA-GG c.640_641delinsGG p.Y214G Missense 6/13 - 1
2-203383563-TA-GT c.640_641delinsGT p.Y214V Missense 6/13 - 1
2-203383563-TAT-AAG c.640_642delinsAAG p.Y214K Missense 6/13 - 1
2-203383563-TAT-ATG c.640_642delinsATG p.Y214M Missense 6/13 - 1
2-203383563-TAT-CAA c.640_642delinsCAA p.Y214Q Missense 6/13 - 1
2-203383563-TAT-GAG c.640_642delinsGAG p.Y214E Missense 6/13 - 1
2-203383563-T-C c.640T>C p.Y214H Missense 6/13 - 1
2-203383563-T-G c.640T>G p.Y214D Missense 6/13 - 1
2-203383564-A-C c.641A>C p.Y214S Missense 6/13 - 1
2-203383564-A-G c.641A>G p.Y214C Missense 6/13 - 1
2-203383564-A-T c.641A>T p.Y214F Missense 6/13 - 1
2-203383564-AT-GG c.641_642delinsGG p.Y214W Missense 6/13 - 1
2-203383565-T-A c.642T>A p.Y214* Nonsense 6/13 - 1
2-203383565-T-G c.642T>G p.Y214* Nonsense 6/13 - 4
2-203383566-G-A c.643G>A p.G215R Missense 6/13 - 1
2-203383566-G-C c.643G>C p.G215R Missense 6/13 - 1
2-203383566-GG-AA c.643_644delinsAA p.G215K Missense 6/13 - 1
2-203383566-GGA-AAC c.643_645delinsAAC p.G215N Missense 6/13 - 1
2-203383566-GGA-AGC c.643_645delinsAGC p.G215S Missense 6/13 - 1
2-203383566-GGA-ATG c.643_645delinsATG p.G215M Missense 6/13 - 1
2-203383566-GG-AC c.643_644delinsAC p.G215T Missense 6/13 - 1
2-203383566-GGA-CAT c.643_645delinsCAT p.G215H Missense 6/13 - 1
2-203383566-GG-AT c.643_644delinsAT p.G215I Missense 6/13 - 1
2-203383566-GGA-TAT c.643_645delinsTAT p.G215Y Missense 6/13 - 1
2-203383566-GGA-TGG c.643_645delinsTGG p.G215W Missense 6/13 - 1
2-203383566-GGA-TGT c.643_645delinsTGT p.G215C Missense 6/13 - 1
2-203383566-GGA-TTT c.643_645delinsTTT p.G215F Missense 6/13 - 1
2-203383566-GG-CA c.643_644delinsCA p.G215Q Missense 6/13 - 1
2-203383566-GG-CC c.643_644inv p.G215P Missense 6/13 - 1
2-203383566-GG-CT c.643_644delinsCT p.G215L Missense 6/13 - 1
2-203383567-G-A c.644G>A p.G215E Missense 6/13 - 1
2-203383567-GA-AC c.644_645delinsAC p.G215D Missense 6/13 - 1
2-203383567-G-C c.644G>C p.G215A Missense 6/13 - 1
2-203383567-G-T c.644G>T p.G215V Missense 6/13 - 1
2-203383569-G-A c.646G>A p.A216T Missense 6/13 - 1
2-203383569-G-C c.646G>C p.A216P Missense 6/13 - 2
2-203383569-GC-AA c.646_647delinsAA p.A216K Missense 6/13 - 1
2-203383569-GCA-AAC c.646_648delinsAAC p.A216N Missense 6/13 - 1
2-203383569-GCA-ATG c.646_648delinsATG p.A216M Missense 6/13 - 1
2-203383569-GCA-CAT c.646_648delinsCAT p.A216H Missense 6/13 - 1
2-203383569-GC-AG c.646_647delinsAG p.A216R Missense 6/13 - 1
2-203383569-GC-AT c.646_647delinsAT p.A216I Missense 6/13 - 1
2-203383569-GCA-TAT c.646_648delinsTAT p.A216Y Missense 6/13 - 1
2-203383569-GCA-TGG c.646_648delinsTGG p.A216W Missense 6/13 - 1
2-203383569-GCA-TGT c.646_648delinsTGT p.A216C Missense 6/13 - 1
2-203383569-GCA-TTT c.646_648delinsTTT p.A216F Missense 6/13 - 1
2-203383569-GC-CA c.646_647delinsCA p.A216Q Missense 6/13 - 1
2-203383569-GC-CT c.646_647delinsCT p.A216L Missense 6/13 - 1
2-203383569-G-T c.646G>T p.A216S Missense 6/13 - 1
2-203383569-G-GC c.647dup p.V217Sfs*3 Frameshift 6/13 - 1
2-203383570-C-A c.647C>A p.A216E Missense 6/13 - 1
2-203383570-CA-AC c.647_648delinsAC p.A216D Missense 6/13 - 1
2-203383570-C-G c.647C>G p.A216G Missense 6/13 - 1
2-203383570-C-T c.647C>T p.A216V Missense 6/13 - 1
2-203383571-A-C c.648A>C p.A216= Synonymous 6/13 - 1
2-203383571-A-G c.648A>G p.A216= Synonymous 6/13 - 1
2-203383571-A-T c.648A>T p.A216= Synonymous 6/13 - 1
2-203383572-G-A c.649G>A p.V217I Missense 6/13 - 1
2-203383572-G-C c.649G>C p.V217L Missense 6/13 - 1
2-203383572-G-T c.649G>T p.V217L Missense 6/13 - 1
2-203383572-GT-AA c.649_650delinsAA p.V217K Missense 6/13 - 1
2-203383572-GTA-AAC c.649_651delinsAAC p.V217N Missense 6/13 - 1
2-203383572-GTA-ATG c.649_651delinsATG p.V217M Missense 6/13 - 1
2-203383572-GT-AC c.649_650inv p.V217T Missense 6/13 - 1
2-203383572-GTA-CAT c.649_651delinsCAT p.V217H Missense 6/13 - 1
2-203383572-GT-AG c.649_650delinsAG p.V217R Missense 6/13 - 1
2-203383572-GTA-TAT c.649_651delinsTAT p.V217Y Missense 6/13 - 1
2-203383572-GTA-TGG c.649_651delinsTGG p.V217W Missense 6/13 - 1
2-203383572-GTA-TGT c.649_651delinsTGT p.V217C Missense 6/13 - 1
2-203383572-GTA-TTT c.649_651delinsTTT p.V217F Missense 6/13 - 1
2-203383572-GT-CA c.649_650delinsCA p.V217Q Missense 6/13 - 1
2-203383572-GT-CC c.649_650delinsCC p.V217P Missense 6/13 - 1
2-203383572-GT-TC c.649_650delinsTC p.V217S Missense 6/13 - 1
2-203383573-T-A c.650T>A p.V217E Missense 6/13 - 1
2-203383573-TA-AC c.650_651delinsAC p.V217D Missense 6/13 - 1
2-203383573-T-C c.650T>C p.V217A Missense 6/13 - 2
2-203383573-T-G c.650T>G p.V217G Missense 6/13 - 1
2-203383575-T-A c.652T>A p.Y218N Missense 6/13 - 1
2-203383575-TA-AC c.652_653delinsAC p.Y218T Missense 6/13 - 1
2-203383575-TA-AT c.652_653delinsAT p.Y218I Missense 6/13 - 1
2-203383575-TA-CC c.652_653delinsCC p.Y218P Missense 6/13 - 1
2-203383575-TA-CG c.652_653delinsCG p.Y218R Missense 6/13 - 1
2-203383575-TA-CT c.652_653delinsCT p.Y218L Missense 6/13 - 1
2-203383575-TA-GC c.652_653delinsGC p.Y218A Missense 6/13 - 1
2-203383575-TA-GG c.652_653delinsGG p.Y218G Missense 6/13 - 1
2-203383575-TA-GT c.652_653delinsGT p.Y218V Missense 6/13 - 1
2-203383575-TAT-AAG c.652_654delinsAAG p.Y218K Missense 6/13 - 1
2-203383575-TAT-ATG c.652_654delinsATG p.Y218M Missense 6/13 - 1
2-203383575-TAT-CAA c.652_654delinsCAA p.Y218Q Missense 6/13 - 1
2-203383575-TAT-GAG c.652_654delinsGAG p.Y218E Missense 6/13 - 1
2-203383575-T-C c.652T>C p.Y218H Missense 6/13 - 1
2-203383575-T-G c.652T>G p.Y218D Missense 6/13 - 1
2-203383576-A-C c.653A>C p.Y218S Missense 6/13 - 1
2-203383576-A-G c.653A>G p.Y218C Missense 6/13 - 1
2-203383576-A-T c.653A>T p.Y218F Missense 6/13 - 1
2-203383576-AT-GG c.653_654delinsGG p.Y218W Missense 6/13 - 1
2-203383577-T-A c.654T>A p.Y218* Nonsense 6/13 - 2
2-203383578-AAA-CAT c.655_657delinsCAT p.K219H Missense 6/13 - 1
2-203383578-AAA-GAC c.655_657delinsGAC p.K219D Missense 6/13 - 1
2-203383578-AAA-TAT c.655_657delinsTAT p.K219Y Missense 6/13 - 1
2-203383578-AAA-TGG c.655_657delinsTGG p.K219W Missense 6/13 - 1
2-203383578-AAA-TGT c.655_657delinsTGT p.K219C Missense 6/13 - 1
2-203383578-AAA-TTT c.655_657inv p.K219F Missense 6/13 - 1
2-203383578-AA-CC c.655_656delinsCC p.K219P Missense 6/13 - 1
2-203383578-AA-CT c.655_656delinsCT p.K219L Missense 6/13 - 1
2-203383578-AA-GC c.655_656delinsGC p.K219A Missense 6/13 - 1
2-203383578-AA-GG c.655_656delinsGG p.K219G Missense 6/13 - 1
2-203383578-AA-GT c.655_656delinsGT p.K219V Missense 6/13 - 1
2-203383578-A-C c.655A>C p.K219Q Missense 6/13 - 1
2-203383578-A-G c.655A>G p.K219E Missense 6/13 - 1
2-203383579-AA-GC c.656_657delinsGC p.K219S Missense 6/13 - 1
2-203383579-AA-TG c.656_657delinsTG p.K219M Missense 6/13 - 2
2-203383579-A-C c.656A>C p.K219T Missense 6/13 - 1
2-203383579-A-G c.656A>G p.K219R Missense 6/13 - 3
2-203383579-A-T c.656A>T p.K219I Missense 6/13 - 1
2-203383577-TA-T c.657del p.G220Afs*10 Frameshift 6/13 - 3
2-203383580-A-C c.657A>C p.K219N Missense 6/13 - 1
2-203383580-A-T c.657A>T p.K219N Missense 6/13 - 1
2-203383581-G-A c.658G>A p.G220S Missense 6/13 - 2
2-203383581-G-C c.658G>C p.G220R Missense 6/13 - 1
2-203383581-GG-AA c.658_659delinsAA p.G220N Missense 6/13 - 1
2-203383581-GG-AC c.658_659delinsAC p.G220T Missense 6/13 - 1
2-203383581-GG-AT c.658_659delinsAT p.G220I Missense 6/13 - 1
2-203383581-GG-CA c.658_659delinsCA p.G220H Missense 6/13 - 1
2-203383581-GGC-AAG c.658_660delinsAAG p.G220K Missense 6/13 - 1
2-203383581-GGC-ATG c.658_660delinsATG p.G220M Missense 6/13 - 1
2-203383581-GG-CC c.658_659inv p.G220P Missense 6/13 - 1
2-203383581-GGC-CAA c.658_660delinsCAA p.G220Q Missense 6/13 - 1
2-203383581-GG-CT c.658_659delinsCT p.G220L Missense 6/13 - 1
2-203383581-GGC-TGG c.658_660delinsTGG p.G220W Missense 6/13 - 1
2-203383581-GG-TA c.658_659delinsTA p.G220Y Missense 6/13 - 1
2-203383581-GG-TT c.658_659delinsTT p.G220F Missense 6/13 - 1
2-203383581-G-T c.658G>T p.G220C Missense 6/13 - 2
2-203383580-A-AG c.659dup p.S221Lfs*4 Frameshift 6/13 - 1
2-203383582-G-A c.659G>A p.G220D Missense 6/13 - 1
2-203383582-G-C c.659G>C p.G220A Missense 6/13 - 1
2-203383582-GC-AG c.659_660delinsAG p.G220E Missense 6/13 - 1
2-203383582-GGC-G c.659_660del p.G220Vfs*4 Frameshift 6/13 - 1
2-203383582-G-T c.659G>T p.G220V Missense 6/13 - 1
2-203383583-C-CG c.660_661insG p.S221Vfs*4 Frameshift 6/13 - 1
2-203383584-T-A c.661T>A p.S221T Missense 6/13 - 2
2-203383584-T-C c.661T>C p.S221P Missense 6/13 - 1
2-203383584-TC-AA c.661_662delinsAA p.S221N Missense 6/13 - 1
2-203383584-TC-AT c.661_662delinsAT p.S221I Missense 6/13 - 1
2-203383584-TC-CA c.661_662delinsCA p.S221H Missense 6/13 - 1
2-203383584-TCC-AAG c.661_663delinsAAG p.S221K Missense 6/13 - 1
2-203383584-TCC-ATG c.661_663delinsATG p.S221M Missense 6/13 - 1
2-203383584-TCC-CAA c.661_663delinsCAA p.S221Q Missense 6/13 - 1
2-203383584-TC-CG c.661_662delinsCG p.S221R Missense 6/13 - 1
2-203383584-TCC-GAG c.661_663delinsGAG p.S221E Missense 6/13 - 1
2-203383584-TC-CT c.661_662delinsCT p.S221L Missense 6/13 - 1
2-203383584-TC-GA c.661_662inv p.S221D Missense 6/13 - 1
2-203383584-TC-GG c.661_662delinsGG p.S221G Missense 6/13 - 1
2-203383584-TC-GT c.661_662delinsGT p.S221V Missense 6/13 - 1
2-203383584-T-G c.661T>G p.S221A Missense 6/13 - 1
2-203383585-C-A c.662C>A p.S221Y Missense 6/13 - 1
2-203383585-CC-GG c.662_663inv p.S221W Missense 6/13 - 1
2-203383585-C-G c.662C>G p.S221C Missense 6/13 - 2
2-203383585-C-T c.662C>T p.S221F Missense 6/13 - 3
2-203383586-C-T c.663C>T p.S221= Synonymous 6/13 - 1
2-203383587-T-A c.664T>A p.L222M Missense 6/13 - 1
2-203383587-T-G c.664T>G p.L222V Missense 6/13 - 1
2-203383587-TT-AA c.664_665inv p.L222K Missense 6/13 - 1
2-203383587-TT-AAGG c.664_665delinsAAGG p.L222Kfs*9 Frameshift 6/13 - 1
2-203383587-TT-AC c.664_665delinsAC p.L222T Missense 6/13 - 1
2-203383587-TT-AG c.664_665delinsAG p.L222R Missense 6/13 - 1
2-203383587-TT-CA c.664_665delinsCA p.L222Q Missense 6/13 - 1
2-203383587-TT-CC c.664_665delinsCC p.L222P Missense 6/13 - 1
2-203383587-TT-GA c.664_665delinsGA p.L222E Missense 6/13 - 1
2-203383587-TTG-AAC c.664_666delinsAAC p.L222N Missense 6/13 - 1
2-203383587-TTG-ATC c.664_666delinsATC p.L222I Missense 6/13 - 1
2-203383587-TT-GC c.664_665delinsGC p.L222A Missense 6/13 - 1
2-203383587-TTG-CAT c.664_666delinsCAT p.L222H Missense 6/13 - 1
2-203383587-TT-GG c.664_665delinsGG p.L222G Missense 6/13 - 1
2-203383587-TTG-GAC c.664_666delinsGAC p.L222D Missense 6/13 - 1
2-203383588-T-C c.665T>C p.L222S Missense 6/13 - 1
2-203383588-T-G c.665T>G p.L222W Missense 6/13 - 1
2-203383588-TG-AT c.665_666delinsAT p.L222Y Missense 6/13 - 1
2-203383588-TG-GT c.665_666delinsGT p.L222C Missense 6/13 - 1
2-203383589-G-C c.666G>C p.L222F Missense 6/13 - 2
2-203383589-G-T c.666G>T p.L222F Missense 6/13 - 2
2-203383590-G-A c.667G>A p.D223N Missense 6/13 - 1
2-203383590-GA-AC c.667_668delinsAC p.D223T Missense 6/13 - 1
2-203383590-GA-AG c.667_668delinsAG p.D223S Missense 6/13 - 1
2-203383590-GA-AT c.667_668delinsAT p.D223I Missense 6/13 - 1
2-203383590-GA-CC c.667_668delinsCC p.D223P Missense 6/13 - 1
2-203383590-GA-CG c.667_668delinsCG p.D223R Missense 6/13 - 1
2-203383590-GA-CT c.667_668delinsCT p.D223L Missense 6/13 - 1
2-203383590-GAT-AAG c.667_669delinsAAG p.D223K Missense 6/13 - 1
2-203383590-GAT-ATG c.667_669delinsATG p.D223M Missense 6/13 - 1
2-203383590-GAT-CAA c.667_669delinsCAA p.D223Q Missense 6/13 - 1
2-203383590-GA-TG c.667_668delinsTG p.D223C Missense 6/13 - 1
2-203383590-GA-TT c.667_668delinsTT p.D223F Missense 6/13 - 1
2-203383590-GAT-TGG c.667_669delinsTGG p.D223W Missense 6/13 - 1
2-203383590-G-C c.667G>C p.D223H Missense 6/13 - 2
2-203383590-G-T c.667G>T p.D223Y Missense 6/13 - 1
2-203383591-A-C c.668A>C p.D223A Missense 6/13 - 2
2-203383591-A-G c.668A>G p.D223G Missense 6/13 - 2
2-203383591-A-T c.668A>T p.D223V Missense 6/13 - 1
2-203383592-T-A c.669T>A p.D223E Missense 6/13 - 1
2-203383592-T-G c.669T>G p.D223E Missense 6/13 - 1
2-203383593-G-A c.670G>A p.E224K Missense 6/13 - 1
2-203383593-GA-AC c.670_671delinsAC p.E224T Missense 6/13 - 1
2-203383593-GA-AG c.670_671delinsAG p.E224R Missense 6/13 - 1
2-203383593-GA-AT c.670_671delinsAT p.E224M Missense 6/13 - 1
2-203383593-GA-CC c.670_671delinsCC p.E224P Missense 6/13 - 1
2-203383593-GA-CT c.670_671delinsCT p.E224L Missense 6/13 - 1
2-203383593-GAG-AAC c.670_672delinsAAC p.E224N Missense 6/13 - 1
2-203383593-GAG-ATC c.670_672delinsATC p.E224I Missense 6/13 - 1
2-203383593-GAG-CAT c.670_672delinsCAT p.E224H Missense 6/13 - 1
2-203383593-GAG-TAT c.670_672delinsTAT p.E224Y Missense 6/13 - 1
2-203383593-GAG-TGT c.670_672delinsTGT p.E224C Missense 6/13 - 1
2-203383593-GAG-TTT c.670_672delinsTTT p.E224F Missense 6/13 - 1
2-203383593-GA-TC c.670_671inv p.E224S Missense 6/13 - 1
2-203383593-GA-TG c.670_671delinsTG p.E224W Missense 6/13 - 1
2-203383593-G-C c.670G>C p.E224Q Missense 6/13 - 1
2-203383594-A-C c.671A>C p.E224A Missense 6/13 - 1
2-203383594-A-G c.671A>G p.E224G Missense 6/13 - 2
2-203383594-A-T c.671A>T p.E224V Missense 6/13 - 1
2-203383595-G-C c.672G>C p.E224D Missense 6/13 - 3
2-203383595-G-T c.672G>T p.E224D Missense 6/13 - 3
2-203383593-GAGCGTCC-G c.673_679del p.R225Lfs*3 Frameshift 6/13 - 1
2-203383596-C-A c.673C>A p.R225S Missense 6/13 - 1
2-203383596-C-G c.673C>G p.R225G Missense 6/13 - 1
2-203383596-CG-AA c.673_674delinsAA p.R225N Missense 6/13 - 1
2-203383596-CG-AC c.673_674delinsAC p.R225T Missense 6/13 - 1
2-203383596-CG-AT c.673_674delinsAT p.R225I Missense 6/13 - 1
2-203383596-CG-GA c.673_674delinsGA p.R225D Missense 6/13 - 1
2-203383596-CG-GC c.673_674delinsGC p.R225A Missense 6/13 - 1
2-203383596-CG-GT c.673_674delinsGT p.R225V Missense 6/13 - 1
2-203383596-CG-TA c.673_674delinsTA p.R225Y Missense 6/13 - 1
2-203383596-CGT-AAG c.673_675delinsAAG p.R225K Missense 6/13 - 1
2-203383596-CGT-ATG c.673_675delinsATG p.R225M Missense 6/13 - 1
2-203383596-CGT-GAG c.673_675delinsGAG p.R225E Missense 6/13 - 1
2-203383596-CG-TT c.673_674delinsTT p.R225F Missense 6/13 - 1
2-203383596-CGT-TGG c.673_675delinsTGG p.R225W Missense 6/13 - 1
2-203383596-C-T c.673C>T p.R225C Missense 6/13 - 2
2-203383597-G-A c.674G>A p.R225H Missense 6/13 - 4
2-203383597-G-C c.674G>C p.R225P Missense 6/13 - 1
2-203383597-G-T c.674G>T p.R225L Missense 6/13 - 1
2-203383597-GT-AA c.674_675delinsAA p.R225Q Missense 6/13 - 1
2-203383599-C-A c.676C>A p.P226T Missense 6/13 - 1
2-203383599-CC-AA c.676_677delinsAA p.P226K Missense 6/13 - 1
2-203383599-CCA-AAC c.676_678delinsAAC p.P226N Missense 6/13 - 1
2-203383599-CCA-ATG c.676_678delinsATG p.P226M Missense 6/13 - 1
2-203383599-CCA-GAC c.676_678delinsGAC p.P226D Missense 6/13 - 1
2-203383599-CC-AT c.676_677delinsAT p.P226I Missense 6/13 - 1
2-203383599-CCA-TAT c.676_678delinsTAT p.P226Y Missense 6/13 - 1
2-203383599-CCA-TGG c.676_678inv p.P226W Missense 6/13 - 1
2-203383599-CCA-TGT c.676_678delinsTGT p.P226C Missense 6/13 - 1
2-203383599-CCA-TTT c.676_678delinsTTT p.P226F Missense 6/13 - 1
2-203383599-CC-GA c.676_677delinsGA p.P226E Missense 6/13 - 1
2-203383599-CC-GG c.676_677inv p.P226G Missense 6/13 - 1
2-203383599-CC-GT c.676_677delinsGT p.P226V Missense 6/13 - 1
2-203383599-C-G c.676C>G p.P226A Missense 6/13 - 1
2-203383599-C-T c.676C>T p.P226S Missense 6/13 - 2
2-203383600-C-A c.677C>A p.P226Q Missense 6/13 - 1
2-203383600-CA-AT c.677_678delinsAT p.P226H Missense 6/13 - 1
2-203383600-C-G c.677C>G p.P226R Missense 6/13 - 2
2-203383600-C-T c.677C>T p.P226L Missense 6/13 - 1
2-203383601-A-C c.678A>C p.P226= Synonymous 6/13 - 1
2-203383601-A-G c.678A>G p.P226= Synonymous 6/13 - 1
2-203383601-A-T c.678A>T p.P226= Synonymous 6/13 - 1
2-203383602-G-A c.679G>A p.V227I Missense 6/13 - 1
2-203383602-G-C c.679G>C p.V227L Missense 6/13 - 1
2-203383602-G-T c.679G>T p.V227F Missense 6/13 - 1
2-203383602-GT-AA c.679_680delinsAA p.V227N Missense 6/13 - 1
2-203383602-GT-AC c.679_680inv p.V227T Missense 6/13 - 1
2-203383602-GT-AG c.679_680delinsAG p.V227S Missense 6/13 - 1
2-203383602-GT-CA c.679_680delinsCA p.V227H Missense 6/13 - 1
2-203383602-GT-CC c.679_680delinsCC p.V227P Missense 6/13 - 1
2-203383602-GT-CG c.679_680delinsCG p.V227R Missense 6/13 - 1
2-203383602-GT-TA c.679_680delinsTA p.V227Y Missense 6/13 - 1
2-203383602-GTT-AAG c.679_681delinsAAG p.V227K Missense 6/13 - 1
2-203383602-GTT-ATG c.679_681delinsATG p.V227M Missense 6/13 - 1
2-203383602-GTT-CAA c.679_681delinsCAA p.V227Q Missense 6/13 - 1
2-203383602-GT-TG c.679_680delinsTG p.V227C Missense 6/13 - 1
2-203383602-GTT-TGG c.679_681delinsTGG p.V227W Missense 6/13 - 1
2-203383603-T-A c.680T>A p.V227D Missense 6/13 - 1
2-203383603-T-C c.680T>C p.V227A Missense 6/13 - 2
2-203383603-T-G c.680T>G p.V227G Missense 6/13 - 1
2-203383603-TT-AG c.680_681delinsAG p.V227E Missense 6/13 - 1
2-203383605-G-A c.682G>A p.A228T Missense 6/13 - 1
2-203383605-G-C c.682G>C p.A228P Missense 6/13 - 1
2-203383605-GC-AA c.682_683delinsAA p.A228N Missense 6/13 - 1
2-203383605-GC-AT c.682_683delinsAT p.A228I Missense 6/13 - 1
2-203383605-GC-CA c.682_683delinsCA p.A228H Missense 6/13 - 1
2-203383605-GC-CG c.682_683delinsCG p.A228R Missense 6/13 - 1
2-203383605-GC-CT c.682_683delinsCT p.A228L Missense 6/13 - 1
2-203383605-GC-TA c.682_683delinsTA p.A228Y Missense 6/13 - 1
2-203383605-GCT-AAG c.682_684delinsAAG p.A228K Missense 6/13 - 1
2-203383605-GCT-ATG c.682_684delinsATG p.A228M Missense 6/13 - 1
2-203383605-GCT-CAA c.682_684delinsCAA p.A228Q Missense 6/13 - 1
2-203383605-GC-TG c.682_683delinsTG p.A228C Missense 6/13 - 1
2-203383605-GC-TT c.682_683delinsTT p.A228F Missense 6/13 - 1
2-203383605-GCT-TGG c.682_684delinsTGG p.A228W Missense 6/13 - 1
2-203383605-G-T c.682G>T p.A228S Missense 6/13 - 1
2-203383606-C-A c.683C>A p.A228D Missense 6/13 - 1
2-203383606-C-G c.683C>G p.A228G Missense 6/13 - 1
2-203383606-C-T c.683C>T p.A228V Missense 6/13 - 3
2-203383606-CT-AG c.683_684inv p.A228E Missense 6/13 - 1
2-203383606-GC-G c.683del p.A228Vfs*2 Frameshift 6/13 - 1
2-203383606-GCTGT-G c.683_686del p.A228Efs*23 Frameshift 6/13 - 1
2-203383608-G-A c.685G>A p.V229I Missense 6/13 - 1
2-203383608-G-C c.685G>C p.V229L Missense 6/13 - 1
2-203383608-G-T c.685G>T p.V229L Missense 6/13 - 1
2-203383608-GT-AA c.685_686delinsAA p.V229K Missense 6/13 - 1
2-203383608-GTA-AAC c.685_687delinsAAC p.V229N Missense 6/13 - 1
2-203383608-GTA-ATG c.685_687delinsATG p.V229M Missense 6/13 - 1
2-203383608-GT-AC c.685_686inv p.V229T Missense 6/13 - 1
2-203383608-GTA-CAT c.685_687delinsCAT p.V229H Missense 6/13 - 1
2-203383608-GT-AG c.685_686delinsAG p.V229R Missense 6/13 - 1
2-203383608-GTA-TAT c.685_687delinsTAT p.V229Y Missense 6/13 - 1
2-203383608-GTA-TGG c.685_687delinsTGG p.V229W Missense 6/13 - 1
2-203383608-GTA-TGT c.685_687delinsTGT p.V229C Missense 6/13 - 1
2-203383608-GTA-TTT c.685_687delinsTTT p.V229F Missense 6/13 - 1
2-203383608-GT-CA c.685_686delinsCA p.V229Q Missense 6/13 - 1
2-203383608-GT-CC c.685_686delinsCC p.V229P Missense 6/13 - 1
2-203383608-GT-TC c.685_686delinsTC p.V229S Missense 6/13 - 1
2-203383609-T-A c.686T>A p.V229E Missense 6/13 - 1
2-203383609-TA-AC c.686_687delinsAC p.V229D Missense 6/13 - 1
2-203383609-T-C c.686T>C p.V229A Missense 6/13 - 1
2-203383609-T-G c.686T>G p.V229G Missense 6/13 - 1
2-203383610-A-G c.687A>G p.V229= Synonymous 6/13 - 2
2-203383610-TAAAAGTG-T c.687_693del p.K230Ffs*20 Frameshift 6/13 - 2
2-203383611-AAA-CAT c.688_690delinsCAT p.K230H Missense 6/13 - 1
2-203383611-AAA-GAC c.688_690delinsGAC p.K230D Missense 6/13 - 1
2-203383611-AAA-TAT c.688_690delinsTAT p.K230Y Missense 6/13 - 1
2-203383611-AAA-TGG c.688_690delinsTGG p.K230W Missense 6/13 - 1
2-203383611-AAA-TGT c.688_690delinsTGT p.K230C Missense 6/13 - 1
2-203383611-AAA-TTT c.688_690inv p.K230F Missense 6/13 - 1
2-203383611-AA-CC c.688_689delinsCC p.K230P Missense 6/13 - 1
2-203383611-AA-CT c.688_689delinsCT p.K230L Missense 6/13 - 1
2-203383611-AA-GC c.688_689delinsGC p.K230A Missense 6/13 - 1
2-203383611-AA-GG c.688_689delinsGG p.K230G Missense 6/13 - 1
2-203383611-AA-GT c.688_689delinsGT p.K230V Missense 6/13 - 1
2-203383611-A-C c.688A>C p.K230Q Missense 6/13 - 1
2-203383611-A-G c.688A>G p.K230E Missense 6/13 - 1
2-203383609-TAA-T c.689_690del p.K230Sfs*25 Frameshift 6/13 - 1
2-203383612-AA-GC c.689_690delinsGC p.K230S Missense 6/13 - 1
2-203383612-AA-TG c.689_690delinsTG p.K230M Missense 6/13 - 1
2-203383612-A-C c.689A>C p.K230T Missense 6/13 - 1
2-203383612-A-G c.689A>G p.K230R Missense 6/13 - 5
2-203383612-A-T c.689A>T p.K230I Missense 6/13 - 1
2-203383609-TA-T c.690del p.V231Cfs*21 Frameshift 6/13 - 4
2-203383613-A-C c.690A>C p.K230N Missense 6/13 - 1
2-203383613-A-T c.690A>T p.K230N Missense 6/13 - 2
2-203383614-AG-A c.691del p.V231Cfs*21 Frameshift 6/13 - 2
2-203383614-G-A c.691G>A p.V231M Missense 6/13 - 1
2-203383614-G-C c.691G>C p.V231L Missense 6/13 - 1
2-203383614-G-T c.691G>T p.V231L Missense 6/13 - 2
2-203383614-GT-AA c.691_692delinsAA p.V231K Missense 6/13 - 1
2-203383614-GT-AC c.691_692inv p.V231T Missense 6/13 - 1
2-203383614-GT-AG c.691_692delinsAG p.V231R Missense 6/13 - 1
2-203383614-GT-CA c.691_692delinsCA p.V231Q Missense 6/13 - 1
2-203383614-GT-CC c.691_692delinsCC p.V231P Missense 6/13 - 1
2-203383614-GTG-AAC c.691_693delinsAAC p.V231N Missense 6/13 - 1
2-203383614-GTG-ATC c.691_693delinsATC p.V231I Missense 6/13 - 1
2-203383614-GTG-CAT c.691_693delinsCAT p.V231H Missense 6/13 - 1
2-203383614-GTG-TAT c.691_693delinsTAT p.V231Y Missense 6/13 - 1
2-203383614-GTG-TGT c.691_693delinsTGT p.V231C Missense 6/13 - 1
2-203383614-GTG-TTT c.691_693delinsTTT p.V231F Missense 6/13 - 1
2-203383614-GT-TC c.691_692delinsTC p.V231S Missense 6/13 - 1
2-203383614-GT-TG c.691_692delinsTG p.V231W Missense 6/13 - 1
2-203383615-T-A c.692T>A p.V231E Missense 6/13 - 1
2-203383615-T-C c.692T>C p.V231A Missense 6/13 - 1
2-203383615-T-G c.692T>G p.V231G Missense 6/13 - 1
2-203383615-TG-AC c.692_693delinsAC p.V231D Missense 6/13 - 1
2-203383617-T-A c.694T>A p.F232I Missense 6/13 - 1
2-203383617-T-C c.694T>C p.F232L Missense 6/13 - 1
2-203383617-T-G c.694T>G p.F232V Missense 6/13 - 1
2-203383617-TT-AA c.694_695inv p.F232N Missense 6/13 - 1
2-203383617-TT-AC c.694_695delinsAC p.F232T Missense 6/13 - 1
2-203383617-TT-CA c.694_695delinsCA p.F232H Missense 6/13 - 1
2-203383617-TT-CC c.694_695delinsCC p.F232P Missense 6/13 - 1
2-203383617-TT-CG c.694_695delinsCG p.F232R Missense 6/13 - 1
2-203383617-TT-GA c.694_695delinsGA p.F232D Missense 6/13 - 1
2-203383617-TT-GC c.694_695delinsGC p.F232A Missense 6/13 - 1
2-203383617-TT-GG c.694_695delinsGG p.F232G Missense 6/13 - 1
2-203383617-TTT-AAG c.694_696delinsAAG p.F232K Missense 6/13 - 1
2-203383617-TTT-ATG c.694_696delinsATG p.F232M Missense 6/13 - 1
2-203383617-TTT-CAA c.694_696delinsCAA p.F232Q Missense 6/13 - 1
2-203383617-TTT-GAG c.694_696delinsGAG p.F232E Missense 6/13 - 1
2-203383619-T-A c.696T>A p.F232L Missense 6/13 - 1
2-203383619-T-G c.696T>G p.F232L Missense 6/13 - 1
2-203383618-T-A c.695T>A p.F232Y Missense 6/13 - 1
2-203383618-T-C c.695T>C p.F232S Missense 6/13 - 1
2-203383618-T-G c.695T>G p.F232C Missense 6/13 - 1
2-203383618-TT-GG c.695_696delinsGG p.F232W Missense 6/13 - 1
2-203383620-T-A c.697T>A p.S233T Missense 6/13 - 2
2-203383620-T-C c.697T>C p.S233P Missense 6/13 - 1
2-203383620-TC-AA c.697_698delinsAA p.S233N Missense 6/13 - 1
2-203383620-TC-AT c.697_698delinsAT p.S233I Missense 6/13 - 1
2-203383620-TC-CA c.697_698delinsCA p.S233H Missense 6/13 - 1
2-203383620-TCC-AAG c.697_699delinsAAG p.S233K Missense 6/13 - 1
2-203383620-TCC-ATG c.697_699delinsATG p.S233M Missense 6/13 - 1
2-203383620-TCC-CAA c.697_699delinsCAA p.S233Q Missense 6/13 - 1
2-203383620-TC-CG c.697_698delinsCG p.S233R Missense 6/13 - 1
2-203383620-TCC-GAG c.697_699delinsGAG p.S233E Missense 6/13 - 1
2-203383620-TC-CT c.697_698delinsCT p.S233L Missense 6/13 - 1
2-203383620-TC-GA c.697_698inv p.S233D Missense 6/13 - 1
2-203383620-TC-GG c.697_698delinsGG p.S233G Missense 6/13 - 1
2-203383620-TC-GT c.697_698delinsGT p.S233V Missense 6/13 - 1
2-203383620-T-G c.697T>G p.S233A Missense 6/13 - 1
2-203383621-C-A c.698C>A p.S233Y Missense 6/13 - 1
2-203383621-CC-GG c.698_699inv p.S233W Missense 6/13 - 1
2-203383621-C-G c.698C>G p.S233C Missense 6/13 - 1
2-203383621-C-T c.698C>T p.S233F Missense 6/13 - 7
2-203383623-T-A c.700T>A p.F234I Missense 6/13 - 1
2-203383623-T-C c.700T>C p.F234L Missense 6/13 - 1
2-203383623-T-G c.700T>G p.F234V Missense 6/13 - 1
2-203383623-TT-AA c.700_701inv p.F234N Missense 6/13 - 1
2-203383623-TT-AC c.700_701delinsAC p.F234T Missense 6/13 - 1
2-203383623-TT-CA c.700_701delinsCA p.F234H Missense 6/13 - 1
2-203383623-TT-CC c.700_701delinsCC p.F234P Missense 6/13 - 1
2-203383623-TT-CG c.700_701delinsCG p.F234R Missense 6/13 - 1
2-203383623-TT-GA c.700_701delinsGA p.F234D Missense 6/13 - 1
2-203383623-TT-GC c.700_701delinsGC p.F234A Missense 6/13 - 1
2-203383623-TT-GG c.700_701delinsGG p.F234G Missense 6/13 - 1
2-203383623-TTT-AAG c.700_702delinsAAG p.F234K Missense 6/13 - 1
2-203383623-TTT-ATG c.700_702delinsATG p.F234M Missense 6/13 - 1
2-203383623-TTT-CAA c.700_702delinsCAA p.F234Q Missense 6/13 - 1
2-203383623-TTT-GAG c.700_702delinsGAG p.F234E Missense 6/13 - 1
2-203383625-T-A c.702T>A p.F234L Missense 6/13 - 1
2-203383625-T-G c.702T>G p.F234L Missense 6/13 - 1
2-203383624-T-A c.701T>A p.F234Y Missense 6/13 - 1
2-203383624-T-C c.701T>C p.F234S Missense 6/13 - 1
2-203383624-T-G c.701T>G p.F234C Missense 6/13 - 1
2-203383624-TT-GG c.701_702delinsGG p.F234W Missense 6/13 - 1
2-203383626-G-A c.703G>A p.A235T Missense 6/13 - 1
2-203383626-G-C c.703G>C p.A235P Missense 6/13 - 1
2-203383626-GC-AA c.703_704delinsAA p.A235K Missense 6/13 - 1
2-203383626-GCA-AAC c.703_705delinsAAC p.A235N Missense 6/13 - 1
2-203383626-GCA-ATG c.703_705delinsATG p.A235M Missense 6/13 - 1
2-203383626-GCA-CAT c.703_705delinsCAT p.A235H Missense 6/13 - 1
2-203383626-GC-AG c.703_704delinsAG p.A235R Missense 6/13 - 1
2-203383626-GC-AT c.703_704delinsAT p.A235I Missense 6/13 - 1
2-203383626-GCA-TAT c.703_705delinsTAT p.A235Y Missense 6/13 - 1
2-203383626-GCA-TGG c.703_705delinsTGG p.A235W Missense 6/13 - 1
2-203383626-GCA-TGT c.703_705delinsTGT p.A235C Missense 6/13 - 1
2-203383626-GCA-TTT c.703_705delinsTTT p.A235F Missense 6/13 - 1
2-203383626-GC-CA c.703_704delinsCA p.A235Q Missense 6/13 - 1
2-203383626-GC-CT c.703_704delinsCT p.A235L Missense 6/13 - 1
2-203383626-G-T c.703G>T p.A235S Missense 6/13 - 1
2-203383627-C-A c.704C>A p.A235E Missense 6/13 - 1
2-203383627-CA-AC c.704_705delinsAC p.A235D Missense 6/13 - 1
2-203383627-C-G c.704C>G p.A235G Missense 6/13 - 1
2-203383627-C-T c.704C>T p.A235V Missense 6/13 - 5
2-203383629-AA-CC c.706_707delinsCC p.N236P Missense 6/13 - 1
2-203383629-AAC-CAA c.706_708delinsCAA p.N236Q Missense 6/13 - 1
2-203383629-AAC-GAG c.706_708delinsGAG p.N236E Missense 6/13 - 1
2-203383629-AA-CT c.706_707delinsCT p.N236L Missense 6/13 - 1
2-203383629-AAC-TGG c.706_708delinsTGG p.N236W Missense 6/13 - 1
2-203383629-AA-GC c.706_707delinsGC p.N236A Missense 6/13 - 1
2-203383629-AA-GG c.706_707delinsGG p.N236G Missense 6/13 - 1
2-203383629-AA-GT c.706_707delinsGT p.N236V Missense 6/13 - 1
2-203383629-AA-TG c.706_707delinsTG p.N236C Missense 6/13 - 1
2-203383629-AA-TT c.706_707inv p.N236F Missense 6/13 - 1
2-203383629-A-C c.706A>C p.N236H Missense 6/13 - 1
2-203383629-A-G c.706A>G p.N236D Missense 6/13 - 1
2-203383629-A-T c.706A>T p.N236Y Missense 6/13 - 1
2-203383627-CA-C c.707del p.N236Tfs*16 Frameshift 6/13 - 3
2-203383630-A-C c.707A>C p.N236T Missense 6/13 - 1
2-203383630-AC-GG c.707_708delinsGG p.N236R Missense 6/13 - 1
2-203383630-AC-TG c.707_708delinsTG p.N236M Missense 6/13 - 1
2-203383630-A-G c.707A>G p.N236S Missense 6/13 - 1
2-203383630-A-T c.707A>T p.N236I Missense 6/13 - 1
2-203383631-C-A c.708C>A p.N236K Missense 6/13 - 1
2-203383631-C-G c.708C>G p.N236K Missense 6/13 - 1
2-203383632-C-A c.709C>A p.R237S Missense 6/13 - 1
2-203383632-C-G c.709C>G p.R237G Missense 6/13 - 1
2-203383632-CG-AA c.709_710delinsAA p.R237N Missense 6/13 - 1
2-203383632-CG-AC c.709_710delinsAC p.R237T Missense 6/13 - 1
2-203383632-CG-AT c.709_710delinsAT p.R237I Missense 6/13 - 1
2-203383632-CG-GA c.709_710delinsGA p.R237D Missense 6/13 - 1
2-203383632-CG-GC c.709_710delinsGC p.R237A Missense 6/13 - 1
2-203383632-CG-GT c.709_710delinsGT p.R237V Missense 6/13 - 1
2-203383632-CG-TA c.709_710delinsTA p.R237Y Missense 6/13 - 1
2-203383632-CGT-AAG c.709_711delinsAAG p.R237K Missense 6/13 - 1
2-203383632-CGT-ATG c.709_711delinsATG p.R237M Missense 6/13 - 1
2-203383632-CGT-GAG c.709_711delinsGAG p.R237E Missense 6/13 - 1
2-203383632-CG-TT c.709_710delinsTT p.R237F Missense 6/13 - 1
2-203383632-CGT-TGG c.709_711delinsTGG p.R237W Missense 6/13 - 2
2-203383632-C-T c.709C>T p.R237C Missense 6/13 - 2
2-203383633-G-A c.710G>A p.R237H Missense 6/13 - 2
2-203383633-G-C c.710G>C p.R237P Missense 6/13 - 1
2-203383633-G-T c.710G>T p.R237L Missense 6/13 - 1
2-203383633-GT-AA c.710_711delinsAA p.R237Q Missense 6/13 - 1
2-203383635-C-A c.712C>A p.Q238K Missense 6/13 - 1
2-203383635-CA-AC c.712_713delinsAC p.Q238T Missense 6/13 - 1
2-203383635-CA-AT c.712_713delinsAT p.Q238M Missense 6/13 - 1
2-203383635-CAG-AAC c.712_714delinsAAC p.Q238N Missense 6/13 - 1
2-203383635-CAG-ATC c.712_714delinsATC p.Q238I Missense 6/13 - 1
2-203383635-CA-GC c.712_713delinsGC p.Q238A Missense 6/13 - 1
2-203383635-CA-GG c.712_713delinsGG p.Q238G Missense 6/13 - 1
2-203383635-CAG-GAC c.712_714delinsGAC p.Q238D Missense 6/13 - 1
2-203383635-CA-GT c.712_713delinsGT p.Q238V Missense 6/13 - 1
2-203383635-CAG-TAT c.712_714delinsTAT p.Q238Y Missense 6/13 - 1
2-203383635-CAG-TGT c.712_714delinsTGT p.Q238C Missense 6/13 - 1
2-203383635-CAG-TTT c.712_714delinsTTT p.Q238F Missense 6/13 - 1
2-203383635-CA-TC c.712_713delinsTC p.Q238S Missense 6/13 - 1
2-203383635-CA-TG c.712_713inv p.Q238W Missense 6/13 - 1
2-203383635-C-G c.712C>G p.Q238E Missense 6/13 - 1
2-203383635-C-T c.712C>T p.Q238* Nonsense 6/13 - 2
2-203383636-A-C c.713A>C p.Q238P Missense 6/13 - 1
2-203383636-A-G c.713A>G p.Q238R Missense 6/13 - 1
2-203383636-A-T c.713A>T p.Q238L Missense 6/13 - 1
2-203383635-CAG-C c.714_715del p.N239Ffs*16 Frameshift 6/13 - 1
2-203383637-G-A c.714G>A p.Q238= Synonymous 6/13 - 5
2-203383637-G-C c.714G>C p.Q238H Missense 6/13 - 1
2-203383637-G-T c.714G>T p.Q238H Missense 6/13 - 2
2-203383638-AA-CC c.715_716delinsCC p.N239P Missense 6/13 - 1
2-203383638-AA-CT c.715_716delinsCT p.N239L Missense 6/13 - 1
2-203383638-AA-GC c.715_716delinsGC p.N239A Missense 6/13 - 1
2-203383638-AA-GG c.715_716delinsGG p.N239G Missense 6/13 - 1
2-203383638-AA-GT c.715_716delinsGT p.N239V Missense 6/13 - 1
2-203383638-AAT-CAA c.715_717delinsCAA p.N239Q Missense 6/13 - 1
2-203383638-AA-TG c.715_716delinsTG p.N239C Missense 6/13 - 1
2-203383638-AAT-GAG c.715_717delinsGAG p.N239E Missense 6/13 - 1
2-203383638-AA-TT c.715_716inv p.N239F Missense 6/13 - 1
2-203383638-AAT-TGG c.715_717delinsTGG p.N239W Missense 6/13 - 1
2-203383638-A-C c.715A>C p.N239H Missense 6/13 - 1
2-203383638-A-G c.715A>G p.N239D Missense 6/13 - 1
2-203383638-A-T c.715A>T p.N239Y Missense 6/13 - 1
2-203383639-A-C c.716A>C p.N239T Missense 6/13 - 1
2-203383639-A-G c.716A>G p.N239S Missense 6/13 - 1
2-203383639-A-T c.716A>T p.N239I Missense 6/13 - 1
2-203383639-AT-GG c.716_717delinsGG p.N239R Missense 6/13 - 1
2-203383639-AT-TG c.716_717delinsTG p.N239M Missense 6/13 - 1
2-203383640-T-A c.717T>A p.N239K Missense 6/13 - 1
2-203383640-T-G c.717T>G p.N239K Missense 6/13 - 1
2-203383641-T-A c.718T>A p.F240I Missense 6/13 - 1
2-203383641-T-C c.718T>C p.F240L Missense 6/13 - 1
2-203383641-T-G c.718T>G p.F240V Missense 6/13 - 2
2-203383641-TT-AA c.718_719inv p.F240N Missense 6/13 - 1
2-203383641-TT-AC c.718_719delinsAC p.F240T Missense 6/13 - 1
2-203383641-TT-CA c.718_719delinsCA p.F240H Missense 6/13 - 1
2-203383641-TT-CC c.718_719delinsCC p.F240P Missense 6/13 - 1
2-203383641-TT-CG c.718_719delinsCG p.F240R Missense 6/13 - 1
2-203383641-TT-GA c.718_719delinsGA p.F240D Missense 6/13 - 1
2-203383641-TT-GC c.718_719delinsGC p.F240A Missense 6/13 - 1
2-203383641-TT-GG c.718_719delinsGG p.F240G Missense 6/13 - 1
2-203383641-TTT-AAG c.718_720delinsAAG p.F240K Missense 6/13 - 1
2-203383641-TTT-ATG c.718_720delinsATG p.F240M Missense 6/13 - 1
2-203383641-TTT-CAA c.718_720delinsCAA p.F240Q Missense 6/13 - 1
2-203383641-TTT-GAG c.718_720delinsGAG p.F240E Missense 6/13 - 1
2-203383643-T-A c.720T>A p.F240L Missense 6/13 - 1
2-203383643-T-G c.720T>G p.F240L Missense 6/13 - 1
2-203383642-T-A c.719T>A p.F240Y Missense 6/13 - 1
2-203383642-T-C c.719T>C p.F240S Missense 6/13 - 1
2-203383642-T-G c.719T>G p.F240C Missense 6/13 - 1
2-203383642-TT-GG c.719_720delinsGG p.F240W Missense 6/13 - 1
2-203383644-A-C c.721A>C p.I241L Missense 6/13 - 1
2-203383644-A-G c.721A>G p.I241V Missense 6/13 - 1
2-203383644-A-T c.721A>T p.I241F Missense 6/13 - 1
2-203383644-AT-CA c.721_722delinsCA p.I241H Missense 6/13 - 1
2-203383644-AT-CC c.721_722delinsCC p.I241P Missense 6/13 - 1
2-203383644-ATC-CAA c.721_723delinsCAA p.I241Q Missense 6/13 - 1
2-203383644-ATC-GAG c.721_723delinsGAG p.I241E Missense 6/13 - 2
2-203383644-ATC-TGG c.721_723delinsTGG p.I241W Missense 6/13 - 1
2-203383644-AT-GA c.721_722delinsGA p.I241D Missense 6/13 - 1
2-203383644-AT-GC c.721_722delinsGC p.I241A Missense 6/13 - 1
2-203383644-AT-GG c.721_722delinsGG p.I241G Missense 6/13 - 1
2-203383644-AT-TA c.721_722delinsTA p.I241Y Missense 6/13 - 1
2-203383644-AT-TG c.721_722delinsTG p.I241C Missense 6/13 - 1
2-203383645-T-A c.722T>A p.I241N Missense 6/13 - 1
2-203383645-T-C c.722T>C p.I241T Missense 6/13 - 1
2-203383645-TC-AG c.722_723delinsAG p.I241K Missense 6/13 - 1
2-203383645-TC-GG c.722_723delinsGG p.I241R Missense 6/13 - 1
2-203383645-T-G c.722T>G p.I241S Missense 6/13 - 1
2-203383646-C-G c.723C>G p.I241M Missense 6/13 - 2
2-203383647-AA-CC c.724_725delinsCC p.N242P Missense 6/13 - 1
2-203383647-AAC-CAA c.724_726delinsCAA p.N242Q Missense 6/13 - 1
2-203383647-AAC-GAG c.724_726delinsGAG p.N242E Missense 6/13 - 1
2-203383647-AA-CT c.724_725delinsCT p.N242L Missense 6/13 - 1
2-203383647-AAC-TGG c.724_726delinsTGG p.N242W Missense 6/13 - 1
2-203383647-AA-GC c.724_725delinsGC p.N242A Missense 6/13 - 1
2-203383647-AA-GG c.724_725delinsGG p.N242G Missense 6/13 - 1
2-203383647-AA-GT c.724_725delinsGT p.N242V Missense 6/13 - 1
2-203383647-AA-TG c.724_725delinsTG p.N242C Missense 6/13 - 1
2-203383647-AA-TT c.724_725inv p.N242F Missense 6/13 - 1
2-203383647-A-C c.724A>C p.N242H Missense 6/13 - 1
2-203383647-A-G c.724A>G p.N242D Missense 6/13 - 1
2-203383647-A-T c.724A>T p.N242Y Missense 6/13 - 1
2-203383648-A-C c.725A>C p.N242T Missense 6/13 - 1
2-203383648-AC-GG c.725_726delinsGG p.N242R Missense 6/13 - 1
2-203383648-AC-TG c.725_726delinsTG p.N242M Missense 6/13 - 1
2-203383648-A-G c.725A>G p.N242S Missense 6/13 - 2
2-203383648-A-T c.725A>T p.N242I Missense 6/13 - 1
2-203383649-C-A c.726C>A p.N242K Missense 6/13 - 1
2-203383649-C-G c.726C>G p.N242K Missense 6/13 - 1
2-203383649-C-T c.726C>T p.N242= Synonymous 6/13 - 1
2-203383650-G-A c.727G>A p.E243K Missense 6/13 - 7
2-203383650-GAA-AAC c.727_729delinsAAC p.E243N Missense 6/13 - 1
2-203383650-GAA-ATG c.727_729delinsATG p.E243M Missense 6/13 - 1
2-203383650-GA-AC c.727_728delinsAC p.E243T Missense 6/13 - 2
2-203383650-GAA-CAT c.727_729delinsCAT p.E243H Missense 6/13 - 1
2-203383650-GA-AG c.727_728delinsAG p.E243R Missense 6/13 - 1
2-203383650-GA-AT c.727_728delinsAT p.E243I Missense 6/13 - 1
2-203383650-GAA-TAT c.727_729delinsTAT p.E243Y Missense 6/13 - 1
2-203383650-GAA-TGG c.727_729delinsTGG p.E243W Missense 6/13 - 1
2-203383650-GAA-TGT c.727_729delinsTGT p.E243C Missense 6/13 - 1
2-203383650-GAA-TTT c.727_729delinsTTT p.E243F Missense 6/13 - 1
2-203383650-GA-CC c.727_728delinsCC p.E243P Missense 6/13 - 1
2-203383650-GA-CT c.727_728delinsCT p.E243L Missense 6/13 - 1
2-203383650-GA-TC c.727_728inv p.E243S Missense 6/13 - 1
2-203383650-G-C c.727G>C p.E243Q Missense 6/13 - 2
2-203383650-G-T c.727G>T p.E243* Nonsense 6/13 - 4
2-203383651-A-C c.728A>C p.E243A Missense 6/13 - 1
2-203383651-A-G c.728A>G p.E243G Missense 6/13 - 1
2-203383651-A-T c.728A>T p.E243V Missense 6/13 - 1
2-203383652-A-C c.729A>C p.E243D Missense 6/13 - 2
2-203383652-A-T c.729A>T p.E243D Missense 6/13 - 1
2-203383653-AA-CC c.730_731delinsCC p.K244P Missense 6/13 - 1
2-203383653-AA-CT c.730_731delinsCT p.K244L Missense 6/13 - 1
2-203383653-AA-GC c.730_731delinsGC p.K244A Missense 6/13 - 1
2-203383653-AAG-CAT c.730_732delinsCAT p.K244H Missense 6/13 - 1
2-203383653-AA-GG c.730_731delinsGG p.K244G Missense 6/13 - 1
2-203383653-AAG-GAC c.730_732delinsGAC p.K244D Missense 6/13 - 1
2-203383653-AA-GT c.730_731delinsGT p.K244V Missense 6/13 - 1
2-203383653-AAG-TAT c.730_732delinsTAT p.K244Y Missense 6/13 - 1
2-203383653-AAG-TGT c.730_732delinsTGT p.K244C Missense 6/13 - 1
2-203383653-AAG-TTT c.730_732delinsTTT p.K244F Missense 6/13 - 1
2-203383653-AA-TG c.730_731delinsTG p.K244W Missense 6/13 - 1
2-203383653-A-C c.730A>C p.K244Q Missense 6/13 - 1
2-203383653-A-G c.730A>G p.K244E Missense 6/13 - 1
2-203383654-A-C c.731A>C p.K244T Missense 6/13 - 2
2-203383654-A-G c.731A>G p.K244R Missense 6/13 - 1
2-203383654-AG-GC c.731_732delinsGC p.K244S Missense 6/13 - 1
2-203383654-AG-TC c.731_732delinsTC p.K244I Missense 6/13 - 1
2-203383654-A-T c.731A>T p.K244M Missense 6/13 - 1
2-203383655-G-A c.732G>A p.K244= Synonymous 6/13 - 1
2-203383655-G-C c.732G>C p.K244N Missense 6/13 - 2
2-203383655-G-T c.732G>T p.K244N Missense 6/13 - 2
2-203383656-AA-CC c.733_734delinsCC p.N245P Missense 6/13 - 1
2-203383656-AAC-CAA c.733_735delinsCAA p.N245Q Missense 6/13 - 1
2-203383656-AAC-GAG c.733_735delinsGAG p.N245E Missense 6/13 - 1
2-203383656-AA-CT c.733_734delinsCT p.N245L Missense 6/13 - 1
2-203383656-AAC-TGG c.733_735delinsTGG p.N245W Missense 6/13 - 1
2-203383656-AA-GC c.733_734delinsGC p.N245A Missense 6/13 - 1
2-203383656-AA-GG c.733_734delinsGG p.N245G Missense 6/13 - 1
2-203383656-AA-GT c.733_734delinsGT p.N245V Missense 6/13 - 1
2-203383656-AA-TG c.733_734delinsTG p.N245C Missense 6/13 - 1
2-203383656-AA-TT c.733_734inv p.N245F Missense 6/13 - 1
2-203383656-A-C c.733A>C p.N245H Missense 6/13 - 1
2-203383656-A-G c.733A>G p.N245D Missense 6/13 - 1
2-203383656-A-T c.733A>T p.N245Y Missense 6/13 - 1
2-203383657-A-C c.734A>C p.N245T Missense 6/13 - 1
2-203383657-AC-GG c.734_735delinsGG p.N245R Missense 6/13 - 1
2-203383657-AC-TG c.734_735delinsTG p.N245M Missense 6/13 - 1
2-203383657-A-G c.734A>G p.N245S Missense 6/13 - 1
2-203383657-A-T c.734A>T p.N245I Missense 6/13 - 1
2-203383658-C-A c.735C>A p.N245K Missense 6/13 - 1
2-203383658-C-G c.735C>G p.N245K Missense 6/13 - 1
2-203383659-A-C c.736A>C p.I246L Missense 6/13 - 1
2-203383659-A-G c.736A>G p.I246V Missense 6/13 - 1
2-203383659-A-T c.736A>T p.I246F Missense 6/13 - 1
2-203383659-AT-CA c.736_737delinsCA p.I246H Missense 6/13 - 1
2-203383659-AT-CC c.736_737delinsCC p.I246P Missense 6/13 - 1
2-203383659-AT-GA c.736_737delinsGA p.I246D Missense 6/13 - 1
2-203383659-AT-GC c.736_737delinsGC p.I246A Missense 6/13 - 1
2-203383659-AT-GG c.736_737delinsGG p.I246G Missense 6/13 - 1
2-203383659-AT-TA c.736_737delinsTA p.I246Y Missense 6/13 - 1
2-203383659-ATT-CAA c.736_738delinsCAA p.I246Q Missense 6/13 - 1
2-203383659-AT-TG c.736_737delinsTG p.I246C Missense 6/13 - 1
2-203383659-ATT-GAG c.736_738delinsGAG p.I246E Missense 6/13 - 1
2-203383659-ATT-TGG c.736_738delinsTGG p.I246W Missense 6/13 - 1
2-203383660-T-A c.737T>A p.I246N Missense 6/13 - 2
2-203383660-T-C c.737T>C p.I246T Missense 6/13 - 3
2-203383660-T-G c.737T>G p.I246S Missense 6/13 - 1
2-203383660-TT-AG c.737_738delinsAG p.I246K Missense 6/13 - 1
2-203383660-TT-GG c.737_738delinsGG p.I246R Missense 6/13 - 1
2-203383661-T-G c.738T>G p.I246M Missense 6/13 - 1
2-203383662-T-A c.739T>A p.Y247N Missense 6/13 - 1
2-203383662-TA-AC c.739_740delinsAC p.Y247T Missense 6/13 - 1
2-203383662-TA-AT c.739_740delinsAT p.Y247I Missense 6/13 - 1
2-203383662-TAC-AAG c.739_741delinsAAG p.Y247K Missense 6/13 - 1
2-203383662-TAC-ATG c.739_741delinsATG p.Y247M Missense 6/13 - 1
2-203383662-TA-CC c.739_740delinsCC p.Y247P Missense 6/13 - 1
2-203383662-TAC-CAA c.739_741delinsCAA p.Y247Q Missense 6/13 - 1
2-203383662-TA-CG c.739_740delinsCG p.Y247R Missense 6/13 - 1
2-203383662-TAC-GAG c.739_741delinsGAG p.Y247E Missense 6/13 - 1
2-203383662-TA-CT c.739_740delinsCT p.Y247L Missense 6/13 - 1
2-203383662-TA-GC c.739_740delinsGC p.Y247A Missense 6/13 - 1
2-203383662-TA-GG c.739_740delinsGG p.Y247G Missense 6/13 - 1
2-203383662-TA-GT c.739_740delinsGT p.Y247V Missense 6/13 - 1
2-203383662-T-C c.739T>C p.Y247H Missense 6/13 - 1
2-203383662-T-G c.739T>G p.Y247D Missense 6/13 - 1
2-203383663-A-C c.740A>C p.Y247S Missense 6/13 - 1
2-203383663-AC-GG c.740_741delinsGG p.Y247W Missense 6/13 - 1
2-203383663-A-G c.740A>G p.Y247C Missense 6/13 - 3
2-203383663-A-T c.740A>T p.Y247F Missense 6/13 - 1
2-203383664-C-A c.741C>A p.Y247* Nonsense 6/13 - 1
2-203383665-A-C c.742A>C p.R248= Synonymous 6/13 - 1
2-203383665-A-G c.742A>G p.R248G Missense 6/13 - 3
2-203383665-AGA-CAT c.742_744delinsCAT p.R248H Missense 6/13 - 1
2-203383665-AGA-GAC c.742_744delinsGAC p.R248D Missense 6/13 - 1
2-203383665-AGA-TAT c.742_744delinsTAT p.R248Y Missense 6/13 - 1
2-203383665-AGA-TGG c.742_744delinsTGG p.R248W Missense 6/13 - 2
2-203383665-AGA-TGT c.742_744delinsTGT p.R248C Missense 6/13 - 1
2-203383665-AGA-TTT c.742_744delinsTTT p.R248F Missense 6/13 - 1
2-203383665-AG-CA c.742_743delinsCA p.R248Q Missense 6/13 - 2
2-203383665-AG-CC c.742_743delinsCC p.R248P Missense 6/13 - 1
2-203383665-AG-CT c.742_743inv p.R248L Missense 6/13 - 1
2-203383665-AG-GA c.742_743delinsGA p.R248E Missense 6/13 - 1
2-203383665-AG-GC c.742_743delinsGC p.R248A Missense 6/13 - 1
2-203383665-AG-GT c.742_743delinsGT p.R248V Missense 6/13 - 1
2-203383666-G-A c.743G>A p.R248K Missense 6/13 - 1
2-203383666-GA-AC c.743_744delinsAC p.R248N Missense 6/13 - 1
2-203383666-GA-TG c.743_744delinsTG p.R248M Missense 6/13 - 1
2-203383666-G-C c.743G>C p.R248T Missense 6/13 - 2
2-203383666-G-T c.743G>T p.R248I Missense 6/13 - 1
2-203383667-A-C c.744A>C p.R248S Missense 6/13 - 1
2-203383667-A-T c.744A>T p.R248S Missense 6/13 - 1
2-203383668-G-A c.745G>A p.V249M Missense 6/13 - 2
2-203383668-G-C c.745G>C p.V249L Missense 6/13 - 1
2-203383668-G-T c.745G>T p.V249L Missense 6/13 - 1
2-203383668-GT-AA c.745_746delinsAA p.V249K Missense 6/13 - 1
2-203383668-GT-AC c.745_746inv p.V249T Missense 6/13 - 1
2-203383668-GT-AG c.745_746delinsAG p.V249R Missense 6/13 - 1
2-203383668-GT-CA c.745_746delinsCA p.V249Q Missense 6/13 - 1
2-203383668-GT-CC c.745_746delinsCC p.V249P Missense 6/13 - 1
2-203383668-GTG-AAC c.745_747delinsAAC p.V249N Missense 6/13 - 1
2-203383668-GTG-ATC c.745_747delinsATC p.V249I Missense 6/13 - 1
2-203383668-GTG-CAT c.745_747delinsCAT p.V249H Missense 6/13 - 1
2-203383668-GTG-TAT c.745_747delinsTAT p.V249Y Missense 6/13 - 1
2-203383668-GTG-TGT c.745_747delinsTGT p.V249C Missense 6/13 - 1
2-203383668-GTG-TTT c.745_747delinsTTT p.V249F Missense 6/13 - 1
2-203383668-GT-TC c.745_746delinsTC p.V249S Missense 6/13 - 1
2-203383668-GT-TG c.745_746delinsTG p.V249W Missense 6/13 - 1
2-203383669-T-A c.746T>A p.V249E Missense 6/13 - 1
2-203383669-T-C c.746T>C p.V249A Missense 6/13 - 1
2-203383669-T-G c.746T>G p.V249G Missense 6/13 - 1
2-203383669-TG-AC c.746_747delinsAC p.V249D Missense 6/13 - 1
2-203383670-G-A c.747G>A p.V249= Synonymous 6/13 - 2
2-203383670-G-C c.747G>C p.V249= Synonymous 6/13 - 2
2-203383670-G-T c.747G>T p.V249= Synonymous 6/13 - 1
2-203383671-C-A c.748C>A p.P250T Missense 6/13 - 1
2-203383671-CC-AA c.748_749delinsAA p.P250N Missense 6/13 - 1
2-203383671-CC-AT c.748_749delinsAT p.P250I Missense 6/13 - 1
2-203383671-CC-GA c.748_749delinsGA p.P250D Missense 6/13 - 1
2-203383671-CC-GG c.748_749inv p.P250G Missense 6/13 - 1
2-203383671-CC-GT c.748_749delinsGT p.P250V Missense 6/13 - 1
2-203383671-CC-TA c.748_749delinsTA p.P250Y Missense 6/13 - 1
2-203383671-CCT-AAG c.748_750delinsAAG p.P250K Missense 6/13 - 1
2-203383671-CCT-ATG c.748_750delinsATG p.P250M Missense 6/13 - 1
2-203383671-CC-TG c.748_749delinsTG p.P250C Missense 6/13 - 1
2-203383671-CCT-GAG c.748_750delinsGAG p.P250E Missense 6/13 - 1
2-203383671-CC-TT c.748_749delinsTT p.P250F Missense 6/13 - 1
2-203383671-CCT-TGG c.748_750delinsTGG p.P250W Missense 6/13 - 1
2-203383671-C-G c.748C>G p.P250A Missense 6/13 - 1
2-203383671-C-T c.748C>T p.P250S Missense 6/13 - 1
2-203383672-C-A c.749C>A p.P250H Missense 6/13 - 2
2-203383672-C-G c.749C>G p.P250R Missense 6/13 - 1
2-203383672-C-T c.749C>T p.P250L Missense 6/13 - 1
2-203383672-CT-AA c.749_750delinsAA p.P250Q Missense 6/13 - 1
2-203383674-T-A c.751T>A p.L251M Missense 6/13 - 1
2-203383674-T-G c.751T>G p.L251V Missense 6/13 - 1
2-203383674-TT-AA c.751_752inv p.L251K Missense 6/13 - 1
2-203383674-TT-AC c.751_752delinsAC p.L251T Missense 6/13 - 1
2-203383674-TT-AG c.751_752delinsAG p.L251R Missense 6/13 - 1
2-203383674-TT-CA c.751_752delinsCA p.L251Q Missense 6/13 - 1
2-203383674-TT-CC c.751_752delinsCC p.L251P Missense 6/13 - 1
2-203383674-TT-GA c.751_752delinsGA p.L251E Missense 6/13 - 1
2-203383674-TTG-AAC c.751_753delinsAAC p.L251N Missense 6/13 - 1
2-203383674-TTG-ATC c.751_753delinsATC p.L251I Missense 6/13 - 1
2-203383674-TT-GC c.751_752delinsGC p.L251A Missense 6/13 - 1
2-203383674-TTG-CAT c.751_753delinsCAT p.L251H Missense 6/13 - 1
2-203383674-TT-GG c.751_752delinsGG p.L251G Missense 6/13 - 1
2-203383674-TTG-GAC c.751_753delinsGAC p.L251D Missense 6/13 - 1
2-203383672-CT-C c.752del p.L251* Frameshift 6/13 - 1
2-203383675-T-C c.752T>C p.L251S Missense 6/13 - 1
2-203383675-T-G c.752T>G p.L251W Missense 6/13 - 1
2-203383675-TG-AT c.752_753delinsAT p.L251Y Missense 6/13 - 1
2-203383675-TG-GT c.752_753delinsGT p.L251C Missense 6/13 - 1
2-203383676-G-C c.753G>C p.L251F Missense 6/13 - 1
2-203383676-G-T c.753G>T p.L251F Missense 6/13 - 1
2-203383677-A-C c.754A>C p.M252L Missense 6/13 - 1
2-203383677-A-G c.754A>G p.M252V Missense 6/13 - 2
2-203383677-A-T c.754A>T p.M252L Missense 6/13 - 1
2-203383677-AT-CA c.754_755delinsCA p.M252Q Missense 6/13 - 1
2-203383677-AT-CC c.754_755delinsCC p.M252P Missense 6/13 - 1
2-203383677-AT-GA c.754_755delinsGA p.M252E Missense 6/13 - 1
2-203383677-AT-GC c.754_755delinsGC p.M252A Missense 6/13 - 1
2-203383677-ATG-CAT c.754_756inv p.M252H Missense 6/13 - 1
2-203383677-AT-GG c.754_755delinsGG p.M252G Missense 6/13 - 1
2-203383677-ATG-GAC c.754_756delinsGAC p.M252D Missense 6/13 - 1
2-203383677-ATG-TAT c.754_756delinsTAT p.M252Y Missense 6/13 - 1