CDAN1

CDAN1 codanin 1

Annotation transcript: NM_138477.4

1252 unique variant annotations were identified in 518 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
15-43016475-A-G c.*214T>C - 3-UTRSNV 28/28 - 6
15-43016547-T-C c.*142A>G - 3-UTRSNV 28/28 - 4
15-43016708-GT-CA c.3664_3665delinsTG p.T1222C Missense 28/28 - 1
15-43016712-C-A c.3661G>T p.G1221C Missense 28/28 - 1
15-43016715-G-A c.3658C>T p.R1220W Missense 28/28 - 1
15-43016720-G-A c.3653C>T p.P1218L Missense 28/28 - 4
15-43016723-T-C c.3650A>G p.Q1217R Missense 28/28 - 1
15-43016731-C-A c.3642G>T p.E1214D Missense 28/28 - 1
15-43016733-C-T c.3640G>A p.E1214K Missense 28/28 - 1
15-43016737-G-A c.3636C>T p.A1212= Synonymous 28/28 - 1
15-43016737-G-C c.3636C>G p.A1212= Synonymous 28/28 - 1
15-43016737-G-T c.3636C>A p.A1212= Synonymous 28/28 - 1
15-43016740-TCT-ATG c.3631_3633delinsCAT p.R1211H Missense 28/28 - 1
15-43016744-A-C c.3629T>G p.L1210R Missense 28/28 - 1
15-43016750-G-C c.3623C>G p.P1208R Missense 28/28 - 1
15-43016751-G-A c.3622C>T p.P1208S Missense 28/28 - 1
15-43016756-G-C c.3617C>G p.P1206R Missense 28/28 - 1
15-43016769-C-T c.3604G>A p.E1202K Missense 28/28 - 2
15-43016771-G-T c.3602C>A p.A1201D Missense 28/28 - 1
15-43016775-G-T c.3598C>A p.L1200I Missense 28/28 - 1
15-43016796-C-G c.3577G>C p.A1193P Missense 28/28 - 1
15-43016798-A-C c.3575T>G p.L1192* Nonsense 28/28 - 1
15-43016798-A-G c.3575T>C p.L1192S Missense 28/28 - 1
15-43016798-A-T c.3575T>A p.L1192* Nonsense 28/28 - 1
15-43016802-C-A c.3571G>T p.E1191* Nonsense 28/28 - 1
15-43016807-G-T c.3566C>A p.A1189D Missense 28/28 - 1
15-43016883-T-TAAAG c.3559-73_3559-70dup - IntronicInsertion - 27/27 2
15-43017081-G-A c.3558+261C>T - IntronicSNV - 27/27 3
15-43017153-C-T c.3558+189G>A - IntronicSNV - 27/27 1
15-43017348-C-G c.3552G>C p.W1184C Missense 27/28 - 1
15-43017349-C-A c.3551G>T p.W1184L Missense 27/28 - 1
15-43017355-G-A c.3545C>T p.A1182V Missense 27/28 - 4
15-43017368-T-C c.3532A>G p.S1178G Missense 27/28 - 1
15-43017376-CA-GT c.3523_3524delinsAC p.C1175T Missense 27/28 - 1
15-43017376-C-T c.3524G>A p.C1175Y Missense 27/28 - 1
15-43017381-C-A c.3519G>T p.E1173D Missense 27/28 - 2
15-43017381-C-G c.3519G>C p.E1173D Missense 27/28 - 5
15-43017383-C-T c.3517G>A p.E1173K Missense 27/28 - 2
15-43017385-A-G c.3515T>C p.I1172T Missense 27/28 - 1
15-43017386-T-G c.3514A>C p.I1172L Missense 27/28 - 1
15-43017391-A-G c.3509T>C p.M1170T Missense 27/28 - 1
15-43017394-C-G c.3506G>C p.R1169P Missense 27/28 - 1
15-43017395-G-A c.3505C>T p.R1169W Missense 27/28 - 2
15-43017395-G-C c.3505C>G p.R1169G Missense 27/28 - 1
15-43017395-G-T c.3505C>A p.R1169= Synonymous 27/28 - 1
15-43017403-A-G c.3497T>C p.L1166P Missense 27/28 - 1
15-43017404-G-A c.3496C>T p.L1166= Synonymous 27/28 - 1
15-43017413-C-G c.3487G>C p.E1163Q Missense 27/28 - 3
15-43017419-G-C c.3481C>G p.L1161V Missense 27/28 - 1
15-43017419-G-T c.3481C>A p.L1161M Missense 27/28 - 1
15-43017422-C-T c.3478G>A p.E1160K Missense 27/28 - 1
15-43017425-G-A c.3475C>T p.R1159W Missense 27/28 - 2
15-43017426-T-A c.3474A>T p.L1158= Synonymous 27/28 - 19
15-43017426-T-C c.3474A>G p.L1158= Synonymous 27/28 - 20
15-43017426-T-G c.3474A>C p.L1158= Synonymous 27/28 - 22
15-43017428-G-A c.3472C>T p.L1158= Synonymous 27/28 - 1
15-43017427-A-G c.3473T>C p.L1158P Missense 27/28 - 1
15-43017432-G-C c.3468C>G p.F1156L Missense 27/28 - 1
15-43017432-G-T c.3468C>A p.F1156L Missense 27/28 - 1
15-43017438-C-T c.3462G>A p.L1154= Synonymous 27/28 - 1
15-43017448-C-T c.3452G>A p.W1151* Nonsense 27/28 - 1
15-43017676-G-A c.3450+11C>T - IntronicSNV - 26/27 3
15-43017687-C-G c.3450G>C p.E1150D Missense 26/28 - 1
15-43017689-C-A c.3448G>T p.E1150* Nonsense 26/28 - 1
15-43017689-C-T c.3448G>A p.E1150K Missense 26/28 - 1
15-43017696-CCT-ATG c.3439_3441delinsCAT p.R1147H Missense 26/28 - 1
15-43017700-G-GT c.3436dup p.T1146Nfs*45 Frameshift 26/28 - 1
15-43017702-G-A c.3435C>T p.D1145= Synonymous 26/28 - 1
15-43017718-A-G c.3419T>C p.V1140A Missense 26/28 - 3
15-43017723-T-A c.3414A>T p.R1138S Missense 26/28 - 1
15-43017723-T-G c.3414A>C p.R1138S Missense 26/28 - 1
15-43017724-C-G c.3413G>C p.R1138T Missense 26/28 - 1
15-43017728-G-A c.3409C>T p.P1137S Missense 26/28 - 1
15-43017731-T-A c.3406A>T p.S1136C Missense 26/28 - 1
15-43017731-T-G c.3406A>C p.S1136R Missense 26/28 - 1
15-43017735-C-T c.3402G>A p.L1134= Synonymous 26/28 - 1
15-43017739-A-G c.3398T>C p.L1133P Missense 26/28 - 1
15-43017747-C-A c.3390G>T p.P1130= Synonymous 26/28 - 1
15-43017747-C-G c.3390G>C p.P1130= Synonymous 26/28 - 1
15-43017747-C-T c.3390G>A p.P1130= Synonymous 26/28 - 3
15-43017748-G-A c.3389C>T p.P1130L Missense 26/28 - 9
15-43017749-G-A c.3388C>T p.P1130S Missense 26/28 - 1
15-43017752-C-T c.3385G>A p.V1129I Missense 26/28 - 3
15-43017754-G-A c.3383C>T p.P1128L Missense 26/28 - 4
15-43017755-G-A c.3382C>T p.P1128S Missense 26/28 - 4
15-43017765-G-A c.3372C>T p.D1124= Synonymous 26/28 - 1
15-43017772-T-G c.3365A>C p.K1122T Missense 26/28 - 1
15-43017773-T-C c.3364A>G p.K1122E Missense 26/28 - 1
15-43017789-C-T c.3348G>A p.M1116I Missense 26/28 - 1
15-43017799-A-G c.3338T>C p.L1113P Missense 26/28 - 1
15-43017805-C-T c.3332G>A p.R1111Q Missense 26/28 - 2
15-43017809-C-T c.3328G>A p.A1110T Missense 26/28 - 1
15-43017815-C-T c.3322G>A p.G1108R Missense 26/28 - 1
15-43017817-C-T c.3320G>A p.R1107K Missense 26/28 - 1
15-43017821-C-A c.3316G>T p.E1106* Nonsense 26/28 - 1
15-43017826-C-T c.3311G>A p.R1104K Missense 26/28 - 1
15-43017832-T-C c.3305A>G p.Q1102R Missense 26/28 - 2
15-43017838-G-A c.3299C>T p.P1100L Missense 26/28 - 3
15-43017841-G-A c.3296C>T p.P1099L Missense 26/28 - 1
15-43017841-G-T c.3296C>A p.P1099H Missense 26/28 - 1
15-43017843-C-A c.3294G>T p.G1098= Synonymous 26/28 - 1
15-43017843-C-G c.3294G>C p.G1098= Synonymous 26/28 - 1
15-43017843-C-T c.3294G>A p.G1098= Synonymous 26/28 - 1
15-43017849-G-A c.3288C>T p.I1096= Synonymous 26/28 - 1
15-43017851-T-C c.3286A>G p.I1096V Missense 26/28 - 1
15-43017853-G-A c.3284C>T p.P1095L Missense 26/28 - 1
15-43017912-C-T c.3269-44G>A - IntronicSNV - 25/27 1
15-43017919-G-A c.3269-51C>T - IntronicSNV - 25/27 5
15-43018173-CAAAA-C c.3268+118_3268+121del - IntronicDeletion - 25/27 1
15-43018173-CAAA-C c.3268+119_3268+121del - IntronicDeletion - 25/27 1
15-43018295-C-G c.3268G>C p.V1090L Missense 25/28 - 1
15-43018295-C-T c.3268G>A p.V1090I Missense 25/28 - 5
15-43018316-C-A c.3247G>T p.V1083L Missense 25/28 - 1
15-43018316-C-G c.3247G>C p.V1083L Missense 25/28 - 1
15-43018324-T-A c.3239A>T p.K1080M Missense 25/28 - 1
15-43018325-T-C c.3238A>G p.K1080E Missense 25/28 - 1
15-43018327-G-A c.3236C>T p.A1079V Missense 25/28 - 1
15-43018334-G-A c.3229C>T p.H1077Y Missense 25/28 - 1
15-43018336-T-G c.3227A>C p.Q1076P Missense 25/28 - 1
15-43018339-T-G c.3224A>C p.E1075A Missense 25/28 - 1
15-43018340-C-A c.3223G>T p.E1075* Nonsense 25/28 - 1
15-43018340-C-T c.3223G>A p.E1075K Missense 25/28 - 1
15-43018345-G-T c.3218C>A p.P1073H Missense 25/28 - 1
15-43018346-G-A c.3217C>T p.P1073S Missense 25/28 - 2
15-43018347-T-A c.3216A>T p.P1072= Synonymous 25/28 - 1
15-43018347-T-C c.3216A>G p.P1072= Synonymous 25/28 - 1
15-43018347-T-G c.3216A>C p.P1072= Synonymous 25/28 - 1
15-43018349-G-T c.3214C>A p.P1072T Missense 25/28 - 1
15-43018353-C-A c.3210G>T p.L1070= Synonymous 25/28 - 1
15-43018470-C-T c.3204+38G>A - IntronicSNV - 24/27 1
15-43018486-G-A c.3204+22C>T - IntronicSNV - 24/27 7
15-43018503-C-T c.3204+5G>A - IntronicSNV - 24/27 1
15-43018505-C-CA c.3204+2dup - SpliceDonorInsertion - 24/27 1
15-43018511-G-A c.3201C>T p.R1067= Synonymous 24/28 - 3
15-43018512-C-T c.3200G>A p.R1067H Missense 24/28 - 1
15-43018513-G-A c.3199C>T p.R1067C Missense 24/28 - 1
15-43018518-C-T c.3194G>A p.R1065Q Missense 24/28 - 10
15-43018519-G-A c.3193C>T p.R1065W Missense 24/28 - 1
15-43018526-C-T c.3186G>A p.Q1062= Synonymous 24/28 - 1
15-43018530-C-A c.3182G>T p.G1061V Missense 24/28 - 1
15-43018530-C-T c.3182G>A p.G1061D Missense 24/28 - 1
15-43018535-C-T c.3177G>A p.Q1059= Synonymous 24/28 - 1
15-43018541-T-A c.3171A>T p.L1057= Synonymous 24/28 - 1
15-43018541-T-C c.3171A>G p.L1057= Synonymous 24/28 - 1
15-43018541-T-G c.3171A>C p.L1057= Synonymous 24/28 - 1
15-43018543-G-A c.3169C>T p.L1057= Synonymous 24/28 - 2
15-43018546-G-A c.3166C>T p.L1056F Missense 24/28 - 1
15-43018558-G-A c.3154C>T p.H1052Y Missense 24/28 - 3
15-43018559-C-A c.3153G>T p.E1051D Missense 24/28 - 1
15-43018559-C-T c.3153G>A p.E1051= Synonymous 24/28 - 4
15-43018563-G-A c.3149C>T p.P1050L Missense 24/28 - 1
15-43018564-G-T c.3148C>A p.P1050T Missense 24/28 - 1
15-43018566-G-A c.3146C>T p.S1049F Missense 24/28 - 1
15-43018571-T-A c.3141A>T p.G1047= Synonymous 24/28 - 1
15-43018571-T-C c.3141A>G p.G1047= Synonymous 24/28 - 1
15-43018571-T-G c.3141A>C p.G1047= Synonymous 24/28 - 1
15-43018584-T-A c.3128A>T p.D1043V Missense 24/28 - 4
15-43018584-T-G c.3128A>C p.D1043A Missense 24/28 - 1
15-43018585-C-A c.3127G>T p.D1043Y Missense 24/28 - 1
15-43018586-C-T c.3126G>A p.R1042= Synonymous 24/28 - 3
15-43018587-C-T c.3125G>A p.R1042Q Missense 24/28 - 1
15-43018586-C-A c.3126G>T p.R1042= Synonymous 24/28 - 2
15-43018586-C-G c.3126G>C p.R1042= Synonymous 24/28 - 2
15-43018588-G-A c.3124C>T p.R1042W Missense 24/28 - 14
15-43018588-G-T c.3124C>A p.R1042= Synonymous 24/28 - 2
15-43018593-C-T c.3119G>A p.G1040E Missense 24/28 - 1
15-43018597-C-A c.3115G>T p.V1039L Missense 24/28 - 1
15-43018602-A-C c.3110T>G p.L1037W Missense 24/28 - 1
15-43018605-G-A c.3107C>T p.S1036F Missense 24/28 - 1
15-43018605-G-C c.3107C>G p.S1036C Missense 24/28 - 1
15-43018606-A-G c.3106T>C p.S1036P Missense 24/28 - 1
15-43018607-G-A c.3105C>T p.L1035= Synonymous 24/28 - 1
15-43018607-G-C c.3105C>G p.L1035= Synonymous 24/28 - 1
15-43018607-G-T c.3105C>A p.L1035= Synonymous 24/28 - 1
15-43018691-T-G c.3097-76A>C - IntronicSNV - 23/27 5
15-43019838-T-G c.3077A>C p.H1026P Missense 23/28 - 1
15-43019839-G-A c.3076C>T p.H1026Y Missense 23/28 - 1
15-43019841-G-C c.3074C>G p.S1025C Missense 23/28 - 2
15-43019843-G-A c.3072C>T p.P1024= Synonymous 23/28 - 1
15-43019844-G-A c.3071C>T p.P1024L Missense 23/28 - 1
15-43019844-G-T c.3071C>A p.P1024H Missense 23/28 - 1
15-43019845-G-A c.3070C>T p.P1024S Missense 23/28 - 1
15-43019865-CA-GT c.3049_3050delinsAC p.C1017T Missense 23/28 - 1
15-43019869-C-CG c.3045dup p.A1016Rfs*3 Frameshift 23/28 - 1
15-43019870-G-A c.3045C>T p.R1015= Synonymous 23/28 - 3
15-43019870-G-T c.3045C>A p.R1015= Synonymous 23/28 - 1
15-43019886-C-T c.3029G>A p.R1010Q Missense 23/28 - 1
15-43019887-G-A c.3028C>T p.R1010W Missense 23/28 - 1
15-43019887-G-C c.3028C>G p.R1010G Missense 23/28 - 1
15-43019887-G-GC c.3027dup p.R1010Afs*9 Frameshift 23/28 - 1
15-43019889-T-A c.3026A>T p.E1009V Missense 23/28 - 1
15-43019890-C-CAA c.3024_3025insTT p.E1009Lfs*24 Frameshift 23/28 - 1
15-43019893-C-A c.3022G>T p.G1008W Missense 23/28 - 3
15-43019889-TC-T c.3025del p.E1009Sfs*23 Frameshift 23/28 - 1
15-43019889-T-TC c.3025dup p.E1009Gfs*10 Frameshift 23/28 - 1
15-43019895-C-T c.3020G>A p.R1007Q Missense 23/28 - 2
15-43019896-G-A c.3019C>T p.R1007W Missense 23/28 - 2
15-43019906-T-C c.3009A>G p.E1003= Synonymous 23/28 - 1
15-43019913-C-A c.3002G>T p.G1001V Missense 23/28 - 1
15-43019913-C-T c.3002G>A p.G1001D Missense 23/28 - 1
15-43019920-C-T c.2995G>A p.A999T Missense 23/28 - 1
15-43019922-C-G c.2993G>C p.R998P Missense 23/28 - 1
15-43019922-C-T c.2993G>A p.R998Q Missense 23/28 - 1
15-43019923-G-A c.2992C>T p.R998* Nonsense 23/28 - 3
15-43019930-GC-TT c.2984_2985delinsAA p.R995Q Missense 23/28 - 1
15-43019931-C-A c.2984G>T p.R995L Missense 23/28 - 1
15-43019931-C-G c.2984G>C p.R995P Missense 23/28 - 2
15-43019931-C-T c.2984G>A p.R995H Missense 23/28 - 8
15-43019933-A-T c.2982T>A p.S994R Missense 23/28 - 1
15-43019946-T-C c.2969A>G p.K990R Missense 23/28 - 1
15-43019948-C-G c.2967G>C p.V989= Synonymous 23/28 - 1
15-43019958-C-A c.2957G>T p.R986M Missense 23/28 - 1
15-43019963-C-A c.2952G>T p.L984= Synonymous 23/28 - 1
15-43019963-C-G c.2952G>C p.L984= Synonymous 23/28 - 1
15-43019963-C-T c.2952G>A p.L984= Synonymous 23/28 - 1
15-43019965-G-A c.2950C>T p.L984= Synonymous 23/28 - 1
15-43019967-G-A c.2948C>T p.A983V Missense 23/28 - 1
15-43019980-G-A c.2948-13C>T - IntronicSNV - 22/27 1
15-43020159-T-C c.2941A>G p.I981V Missense 22/28 - 2
15-43020165-C-A c.2935G>T p.A979S Missense 22/28 - 1
15-43020167-G-A c.2933C>T p.S978L Missense 22/28 - 1
15-43020171-G-A c.2929C>T p.L977= Synonymous 22/28 - 1
15-43020176-G-A c.2924C>T p.A975V Missense 22/28 - 1
15-43020179-C-G c.2921G>C p.C974S Missense 22/28 - 1
15-43020180-A-T c.2920T>A p.C974S Missense 22/28 - 1
15-43020183-C-A c.2917G>T p.A973S Missense 22/28 - 1
15-43020185-T-G c.2915A>C p.K972T Missense 22/28 - 1
15-43020189-C-T c.2911G>A p.E971K Missense 22/28 - 2
15-43020192-T-C c.2908A>G p.T970A Missense 22/28 - 2
15-43020194-G-C c.2906C>G p.A969G Missense 22/28 - 1
15-43020195-C-T c.2905G>A p.A969T Missense 22/28 - 1
15-43020200-C-T c.2900G>A p.G967E Missense 22/28 - 1
15-43020202-C-A c.2898G>T p.V966= Synonymous 22/28 - 1
15-43020202-C-G c.2898G>C p.V966= Synonymous 22/28 - 1
15-43020202-C-T c.2898G>A p.V966= Synonymous 22/28 - 1
15-43020204-C-T c.2896G>A p.V966M Missense 22/28 - 2
15-43020207-C-T c.2893G>A p.A965T Missense 22/28 - 1
15-43020212-T-C c.2888A>G p.N963S Missense 22/28 - 2
15-43020218-G-A c.2882C>T p.A961V Missense 22/28 - 1
15-43020226-C-T c.2874G>A p.L958= Synonymous 22/28 - 1
15-43020231-C-T c.2869G>A p.V957I Missense 22/28 - 1
15-43020236-G-A c.2869-5C>T - IntronicSNV - 21/27 1
15-43020365-G-A c.2868+37C>T - IntronicSNV - 21/27 1
15-43020389-C-A c.2868+13G>T - IntronicSNV - 21/27 1
15-43020395-CACGT-C c.2868+3_2868+6del - IntronicDeletion 21/28 21/27 3
15-43020406-G-A c.2864C>T p.A955V Missense 21/28 - 1
15-43020407-C-G c.2863G>C p.A955P Missense 21/28 - 1
15-43020408-C-T c.2862G>A p.P954= Synonymous 21/28 - 1
15-43020409-G-A c.2861C>T p.P954L Missense 21/28 - 2
15-43020410-G-A c.2860C>T p.P954S Missense 21/28 - 1
15-43020412-G-C c.2858C>G p.T953S Missense 21/28 - 1
15-43020419-C-A c.2851G>T p.E951* Nonsense 21/28 - 1
15-43020421-G-A c.2849C>T p.P950L Missense 21/28 - 1
15-43020431-C-G c.2839G>C p.A947P Missense 21/28 - 1
15-43020433-CG-AT c.2836_2837delinsAT p.R946M Missense 21/28 - 1
15-43020433-C-T c.2837G>A p.R946Q Missense 21/28 - 1
15-43020434-G-A c.2836C>T p.R946W Missense 21/28 - 7
15-43020437-C-T c.2833G>A p.V945M Missense 21/28 - 1
15-43020439-G-C c.2831C>G p.A944G Missense 21/28 - 2
15-43020440-C-A c.2830G>T p.A944S Missense 21/28 - 2
15-43020443-C-G c.2827G>C p.G943R Missense 21/28 - 1
15-43020443-C-T c.2827G>A p.G943R Missense 21/28 - 1
15-43020446-G-A c.2824C>T p.P942S Missense 21/28 - 1
15-43020454-C-A c.2816G>T p.R939M Missense 21/28 - 1
15-43020459-A-G c.2811T>C p.C937= Synonymous 21/28 - 1
15-43020594-C-T c.2805-129G>A - IntronicSNV - 20/27 2
15-43020850-T-C c.2804A>G p.E935G Missense 20/28 - 2
15-43020851-C-G c.2803G>C p.E935Q Missense 20/28 - 1
15-43020852-C-T c.2802G>A p.R934= Synonymous 20/28 - 1
15-43020853-C-T c.2801G>A p.R934Q Missense 20/28 - 1
15-43020854-G-A c.2800C>T p.R934W Missense 20/28 - 2
15-43020858-CAG-GAT c.2794_2796delinsATC p.L932I Missense 20/28 - 1
15-43020859-A-C c.2795T>G p.L932R Missense 20/28 - 1
15-43020862-G-A c.2792C>T p.A931V Missense 20/28 - 1
15-43020871-CT-C c.2783del p.Q928Rfs*31 Frameshift 20/28 - 2
15-43020875-C-G c.2779G>C p.A927P Missense 20/28 - 1
15-43020877-C-T c.2777G>A p.G926E Missense 20/28 - 2
15-43020878-C-G c.2776G>C p.G926R Missense 20/28 - 3
15-43020878-C-T c.2776G>A p.G926R Missense 20/28 - 4
15-43020879-G-A c.2775C>T p.H925= Synonymous 20/28 - 3
15-43020879-G-C c.2775C>G p.H925Q Missense 20/28 - 1
15-43020881-G-A c.2773C>T p.H925Y Missense 20/28 - 1
15-43020883-G-C c.2771C>G p.P924R Missense 20/28 - 1
15-43020883-G-T c.2771C>A p.P924H Missense 20/28 - 1
15-43020884-G-A c.2770C>T p.P924S Missense 20/28 - 1
15-43020890-G-T c.2764C>A p.L922M Missense 20/28 - 1
15-43020891-C-A c.2763G>T p.Q921H Missense 20/28 - 1
15-43020891-C-G c.2763G>C p.Q921H Missense 20/28 - 1
15-43020894-G-A c.2760C>T p.S920= Synonymous 20/28 - 1
15-43020899-A-G c.2755T>C p.C919R Missense 20/28 - 1
15-43020903-G-A c.2751C>T p.I917= Synonymous 20/28 - 1
15-43020903-G-T c.2751C>A p.I917= Synonymous 20/28 - 1
15-43020904-A-C c.2750T>G p.I917S Missense 20/28 - 1
15-43020908-C-T c.2746G>A p.E916K Missense 20/28 - 1
15-43020907-TC-T c.2746del p.E916Rfs*43 Frameshift 20/28 - 1
15-43020920-C-A c.2734G>T p.A912S Missense 20/28 - 1
15-43020923-G-C c.2731C>G p.P911A Missense 20/28 - 3
15-43020925-T-C c.2729A>G p.D910G Missense 20/28 - 1
15-43020929-C-G c.2725G>C p.G909R Missense 20/28 - 1
15-43020929-C-T c.2725G>A p.G909R Missense 20/28 - 3
15-43020931-C-T c.2723G>A p.G908E Missense 20/28 - 1
15-43020932-C-G c.2722G>C p.G908R Missense 20/28 - 16
15-43020932-C-T c.2722G>A p.G908R Missense 20/28 - 16
15-43020943-T-G c.2711A>C p.Q904P Missense 20/28 - 1
15-43020950-C-A c.2704G>T p.V902L Missense 20/28 - 4
15-43020950-C-G c.2704G>C p.V902L Missense 20/28 - 2
15-43020968-G-A c.2686C>T p.L896F Missense 20/28 - 1
15-43020977-C-T c.2677G>A p.A893T Missense 20/28 - 1
15-43020982-C-A c.2672G>T p.R891L Missense 20/28 - 1
15-43020982-C-T c.2672G>A p.R891H Missense 20/28 - 2
15-43020983-G-A c.2671C>T p.R891C Missense 20/28 - 35
15-43020987-C-A c.2667G>T p.L889= Synonymous 20/28 - 1
15-43020987-CAG-GAT c.2665_2667delinsATC p.L889I Missense 20/28 - 1
15-43020988-A-C c.2666T>G p.L889R Missense 20/28 - 1
15-43020990-A-C c.2664T>G p.D888E Missense 20/28 - 2
15-43020990-A-T c.2664T>A p.D888E Missense 20/28 - 1
15-43020992-C-G c.2662G>C p.D888H Missense 20/28 - 1
15-43020994-G-A c.2660C>T p.A887V Missense 20/28 - 1
15-43020998-C-T c.2656G>A p.V886M Missense 20/28 - 1
15-43021004-T-C c.2650A>G p.T884A Missense 20/28 - 1
15-43021004-T-G c.2650A>C p.T884P Missense 20/28 - 1
15-43021058-G-A c.2646-50C>T - IntronicSNV - 19/27 2
15-43021218-T-TA c.2645+2dup - SpliceDonorInsertion - 19/27 1
15-43021222-T-G c.2644A>C p.K882Q Missense 19/28 - 1
15-43021228-G-A c.2638C>T p.H880Y Missense 19/28 - 2
15-43021230-T-G c.2636A>C p.K879T Missense 19/28 - 1
15-43021241-T-A c.2625A>T p.S875= Synonymous 19/28 - 1
15-43021241-T-C c.2625A>G p.S875= Synonymous 19/28 - 1
15-43021241-T-G c.2625A>C p.S875= Synonymous 19/28 - 1
15-43021246-C-G c.2620G>C p.G874R Missense 19/28 - 1
15-43021246-C-T c.2620G>A p.G874R Missense 19/28 - 1
15-43021249-T-G c.2617A>C p.I873L Missense 19/28 - 2
15-43021251-C-A c.2615G>T p.R872I Missense 19/28 - 2
15-43021257-G-A c.2609C>T p.A870V Missense 19/28 - 2
15-43021258-C-A c.2608G>T p.A870S Missense 19/28 - 1
15-43021258-C-T c.2608G>A p.A870T Missense 19/28 - 1
15-43021261-C-T c.2605G>A p.V869M Missense 19/28 - 4
15-43021262-G-A c.2604C>T p.F868= Synonymous 19/28 - 6
15-43021264-A-T c.2602T>A p.F868I Missense 19/28 - 2
15-43021270-C-T c.2596G>A p.V866I Missense 19/28 - 4
15-43021270-C-CG c.2595dup p.V866Rfs*138 Frameshift 19/28 - 1
15-43021275-C-A c.2591G>T p.R864L Missense 19/28 - 2
15-43021275-C-T c.2591G>A p.R864Q Missense 19/28 - 1
15-43021278-C-A c.2588G>T p.R863L Missense 19/28 - 1
15-43021278-C-T c.2588G>A p.R863H Missense 19/28 - 1
15-43021279-G-A c.2587C>T p.R863C Missense 19/28 - 4
15-43021281-A-G c.2585T>C p.L862S Missense 19/28 - 1
15-43021284-G-A c.2582C>T p.S861F Missense 19/28 - 1
15-43021288-G-T c.2578C>A p.P860T Missense 19/28 - 2
15-43021289-C-T c.2577G>A p.P859= Synonymous 19/28 - 1
15-43021290-G-A c.2576C>T p.P859L Missense 19/28 - 1
15-43021289-CG-C c.2576del p.P859Rfs*8 Frameshift 19/28 - 1
15-43021296-T-C c.2570A>G p.N857S Missense 19/28 - 2
15-43021302-A-G c.2564T>C p.F855S Missense 19/28 - 1
15-43021301-GA-G c.2564del p.F855Sfs*12 Frameshift 19/28 - 1
15-43021308-G-A c.2558C>T p.A853V Missense 19/28 - 2
15-43021312-G-A c.2554C>T p.Q852* Nonsense 19/28 - 1
15-43021314-G-A c.2552C>T p.A851V Missense 19/28 - 1
15-43021315-C-T c.2551G>A p.A851T Missense 19/28 - 1
15-43021376-G-C c.2541+51C>G - IntronicSNV - 18/27 1
15-43021382-A-C c.2541+45T>G - IntronicSNV - 18/27 1
15-43021383-A-C c.2541+44T>G - IntronicSNV - 18/27 1
15-43021391-T-C c.2541+36A>G - IntronicSNV - 18/27 2
15-43021394-T-A c.2541+33A>T - IntronicSNV - 18/27 1
15-43021429-G-A c.2539C>T p.Q847* Nonsense 18/28 - 2
15-43021434-C-G c.2534G>C p.G845A Missense 18/28 - 1
15-43021434-C-T c.2534G>A p.G845E Missense 18/28 - 1
15-43021435-C-G c.2533G>C p.G845R Missense 18/28 - 1
15-43021435-C-T c.2533G>A p.G845R Missense 18/28 - 1
15-43021437-T-C c.2531A>G p.Q844R Missense 18/28 - 2
15-43021439-G-C c.2529C>G p.S843R Missense 18/28 - 1
15-43021439-G-T c.2529C>A p.S843R Missense 18/28 - 1
15-43021441-T-G c.2527A>C p.S843R Missense 18/28 - 1
15-43021442-G-A c.2526C>T p.T842= Synonymous 18/28 - 1
15-43021443-G-A c.2525C>T p.T842I Missense 18/28 - 1
15-43021444-T-C c.2524A>G p.T842A Missense 18/28 - 1
15-43021446-T-A c.2522A>T p.Q841L Missense 18/28 - 1
15-43021458-G-A c.2510C>T p.A837V Missense 18/28 - 1
15-43021458-G-T c.2510C>A p.A837D Missense 18/28 - 1
15-43021465-G-A c.2503C>T p.L835= Synonymous 18/28 - 1
15-43021472-G-A c.2496C>T p.T832= Synonymous 18/28 - 1
15-43021473-G-A c.2495C>T p.T832I Missense 18/28 - 2
15-43021476-GT-CA c.2491_2492delinsTG p.T831C Missense 18/28 - 1
15-43021486-T-G c.2482A>C p.T828P Missense 18/28 - 3
15-43021505-C-A c.2463G>T p.G821= Synonymous 18/28 - 1
15-43021505-C-G c.2463G>C p.G821= Synonymous 18/28 - 1
15-43021505-C-T c.2463G>A p.G821= Synonymous 18/28 - 2
15-43021512-C-T c.2456G>A p.R819Q Missense 18/28 - 1
15-43021518-CT-AA c.2449_2450delinsTT p.S817F Missense 18/28 - 1
15-43021520-A-G c.2448T>C p.S816= Synonymous 18/28 - 1
15-43021527-G-A c.2441C>T p.S814L Missense 18/28 - 1
15-43021535-C-G c.2433G>C p.S811= Synonymous 18/28 - 1
15-43021535-C-T c.2433G>A p.S811= Synonymous 18/28 - 3
15-43021536-G-A c.2432C>T p.S811L Missense 18/28 - 5
15-43021540-C-G c.2428G>C p.A810P Missense 18/28 - 1
15-43021540-C-T c.2428G>A p.A810T Missense 18/28 - 1
15-43021546-G-A c.2422C>T p.L808= Synonymous 18/28 - 1
15-43021550-C-T c.2418G>A p.R806= Synonymous 18/28 - 1
15-43021551-C-T c.2417G>A p.R806Q Missense 18/28 - 2
15-43021552-G-A c.2416C>T p.R806W Missense 18/28 - 2
15-43021552-G-T c.2416C>A p.R806= Synonymous 18/28 - 2
15-43021553-G-A c.2415C>T p.L805= Synonymous 18/28 - 1
15-43021563-G-A c.2408-3C>T - IntronicSNV - 17/27 14
15-43021563-G-T c.2408-3C>A - IntronicSNV - 17/27 14
15-43021628-C-T c.2408-68G>A - IntronicSNV - 17/27 8
15-43021764-AC-A c.2407+1del - Frameshift 17/28 - 1
15-43021766-C-A c.2407G>T p.G803* Nonsense 17/28 - 1
15-43021776-G-A c.2397C>T p.C799= Synonymous 17/28 - 1
15-43021780-C-A c.2393G>T p.C798F Missense 17/28 - 1
15-43021785-G-A c.2388C>T p.Y796= Synonymous 17/28 - 1
15-43021788-G-A c.2385C>T p.L795= Synonymous 17/28 - 1
15-43021788-G-C c.2385C>G p.L795= Synonymous 17/28 - 1
15-43021788-G-T c.2385C>A p.L795= Synonymous 17/28 - 1
15-43021811-G-A c.2362C>T p.P788S Missense 17/28 - 3
15-43021813-G-A c.2360C>T p.A787V Missense 17/28 - 4
15-43021816-T-C c.2357A>G p.N786S Missense 17/28 - 1
15-43021908-C-T c.2352+86G>A - IntronicSNV - 16/27 2
15-43021986-G-A c.2352+8C>T - IntronicSNV - 16/27 13
15-43021986-G-C c.2352+8C>G - IntronicSNV - 16/27 6
15-43022001-T-C c.2345A>G p.H782R Missense 16/28 - 1
15-43022005-C-G c.2341G>C p.E781Q Missense 16/28 - 1
15-43022008-G-A c.2338C>T p.P780S Missense 16/28 - 1
15-43022011-C-T c.2335G>A p.A779T Missense 16/28 - 1
15-43022017-T-C c.2329A>G p.T777A Missense 16/28 - 1
15-43022019-T-C c.2327A>G p.D776G Missense 16/28 - 1
15-43022029-A-G c.2317T>C p.F773L Missense 16/28 - 1
15-43022040-G-A c.2306C>T p.P769L Missense 16/28 - 1
15-43022043-C-T c.2303G>A p.G768D Missense 16/28 - 1
15-43022044-C-T c.2302G>A p.G768S Missense 16/28 - 1
15-43022047-C-T c.2299G>A p.E767K Missense 16/28 - 1
15-43022054-A-G c.2292T>C p.F764= Synonymous 16/28 - 1
15-43022057-G-C c.2289C>G p.F763L Missense 16/28 - 1
15-43022057-G-T c.2289C>A p.F763L Missense 16/28 - 1
15-43022059-A-G c.2287T>C p.F763L Missense 16/28 - 1
15-43022061-A-G c.2285T>C p.L762S Missense 16/28 - 1
15-43022062-A-C c.2284T>G p.L762V Missense 16/28 - 1
15-43022064-T-C c.2282A>G p.D761G Missense 16/28 - 1
15-43022068-C-T c.2278G>A p.E760K Missense 16/28 - 2
15-43022071-G-A c.2275C>T p.P759S Missense 16/28 - 1
15-43022072-G-A c.2274C>T p.V758= Synonymous 16/28 - 1
15-43022080-G-T c.2266C>A p.P756T Missense 16/28 - 1
15-43022126-A-C c.2263-43T>G - IntronicSNV - 15/27 1
15-43022252-G-A c.2262+74C>T - IntronicSNV - 15/27 1
15-43022310-C-A c.2262+16G>T - IntronicSNV - 15/27 1
15-43022310-C-T c.2262+16G>A - IntronicSNV - 15/27 1
15-43022340-C-A c.2248G>T p.G750C Missense 15/28 - 1
15-43022340-C-T c.2248G>A p.G750S Missense 15/28 - 1
15-43022366-T-C c.2222A>G p.N741S Missense 15/28 - 1
15-43022371-G-A c.2217C>T p.F739= Synonymous 15/28 - 1
15-43022383-C-G c.2205G>C p.G735= Synonymous 15/28 - 1
15-43022384-C-G c.2204G>C p.G735A Missense 15/28 - 1
15-43022388-C-A c.2200G>T p.E734* Nonsense 15/28 - 1
15-43022392-C-G c.2196G>C p.E732D Missense 15/28 - 1
15-43022394-C-T c.2194G>A p.E732K Missense 15/28 - 1
15-43022399-G-A c.2189C>T p.S730L Missense 15/28 - 1
15-43022403-A-C c.2185T>G p.L729V Missense 15/28 - 1
15-43022407-C-A c.2181G>T p.L727F Missense 15/28 - 1
15-43022529-T-C c.2175-116A>G - IntronicSNV - 14/27 2
15-43022690-C-A c.2174+106G>T - IntronicSNV - 14/27 5
15-43022690-C-G c.2174+106G>C - IntronicSNV - 14/27 3
15-43022729-A-G c.2174+67T>C - IntronicSNV - 14/27 1
15-43022790-CA-C c.2174+6del - IntronicDeletion - 14/27 1
15-43022796-C-T c.2174G>A p.R725Q Missense 14/28 - 2
15-43022797-G-A c.2173C>T p.R725W Missense 14/28 - 3
15-43022806-G-A c.2164C>T p.R722C Missense 14/28 - 6
15-43022811-A-G c.2159T>C p.L720P Missense 14/28 - 2
15-43022815-G-T c.2155C>A p.L719I Missense 14/28 - 1
15-43022827-C-T c.2143G>A p.D715N Missense 14/28 - 3
15-43022829-C-T c.2141G>A p.R714Q Missense 14/28 - 3
15-43022830-G-A c.2140C>T p.R714W Missense 14/28 - 11
15-43022832-T-G c.2138A>C p.Y713S Missense 14/28 - 1
15-43022839-C-T c.2131G>A p.E711K Missense 14/28 - 1
15-43022843-GCAA-G c.2125_2127del p.L710del InFrameDeletion 14/28 - 1
15-43022854-C-T c.2116G>A p.V706I Missense 14/28 - 1
15-43022862-G-A c.2108C>T p.A703V Missense 14/28 - 2
15-43022867-G-A c.2103C>T p.S701= Synonymous 14/28 - 2
15-43022867-G-C c.2103C>G p.S701= Synonymous 14/28 - 2
15-43022867-G-T c.2103C>A p.S701= Synonymous 14/28 - 2
15-43022874-A-C c.2096T>G p.F699C Missense 14/28 - 3
15-43022877-T-A c.2093A>T p.E698V Missense 14/28 - 1
15-43022878-C-T c.2092G>A p.E698K Missense 14/28 - 2
15-43022880-A-C c.2090T>G p.V697G Missense 14/28 - 2
15-43022882-C-T c.2088G>A p.L696= Synonymous 14/28 - 1
15-43022883-A-G c.2087T>C p.L696P Missense 14/28 - 1
15-43022884-G-A c.2086C>T p.L696= Synonymous 14/28 - 1
15-43022889-G-A c.2081C>T p.P694L Missense 14/28 - 1
15-43022892-A-G c.2078T>C p.V693A Missense 14/28 - 1
15-43022894-G-A c.2076C>T p.T692= Synonymous 14/28 - 3
15-43022894-G-C c.2076C>G p.T692= Synonymous 14/28 - 1
15-43022894-G-T c.2076C>A p.T692= Synonymous 14/28 - 1
15-43022897-G-GA c.2072dup p.T692Hfs*13 Frameshift 14/28 - 1
15-43022904-G-A c.2066C>T p.A689V Missense 14/28 - 1
15-43022904-G-T c.2066C>A p.A689E Missense 14/28 - 1
15-43022905-C-T c.2065G>A p.A689T Missense 14/28 - 1
15-43022906-CCG-ACA c.2062_2064delinsTGT p.R688C Missense 14/28 - 1
15-43022907-C-T c.2063G>A p.R688Q Missense 14/28 - 1
15-43022908-G-A c.2062C>T p.R688W Missense 14/28 - 3
15-43022911-G-A c.2059C>T p.R687C Missense 14/28 - 4
15-43022914-C-A c.2056G>T p.A686S Missense 14/28 - 1
15-43022914-C-T c.2056G>A p.A686T Missense 14/28 - 1
15-43022916-T-A c.2054A>T p.Q685L Missense 14/28 - 1
15-43022920-G-C c.2050C>G p.L684V Missense 14/28 - 1
15-43022921-C-T c.2049G>A p.G683= Synonymous 14/28 - 1
15-43022922-C-G c.2048G>C p.G683A Missense 14/28 - 1
15-43022925-C-T c.2045G>A p.R682Q Missense 14/28 - 5
15-43022926-G-A c.2044C>T p.R682* Nonsense 14/28 - 1
15-43022932-G-A c.2038C>T p.L680= Synonymous 14/28 - 1
15-43022933-C-A c.2037G>T p.L679= Synonymous 14/28 - 2
15-43022933-C-G c.2037G>C p.L679= Synonymous 14/28 - 2
15-43022933-C-T c.2037G>A p.L679= Synonymous 14/28 - 3
15-43022935-G-A c.2035C>T p.L679= Synonymous 14/28 - 2
15-43022935-G-C c.2035C>G p.L679V Missense 14/28 - 1
15-43022940-C-T c.2030G>A p.R677Q Missense 14/28 - 7
15-43022941-G-A c.2029C>T p.R677W Missense 14/28 - 1
15-43022951-G-A c.2019C>T p.V673= Synonymous 14/28 - 1
15-43022954-C-A c.2016G>T p.P672= Synonymous 14/28 - 1
15-43022954-C-G c.2016G>C p.P672= Synonymous 14/28 - 1
15-43022954-C-T c.2016G>A p.P672= Synonymous 14/28 - 1
15-43022955-G-A c.2015C>T p.P672L Missense 14/28 - 8
15-43022956-G-A c.2014C>T p.P672S Missense 14/28 - 1
15-43022958-G-A c.2012C>T p.P671L Missense 14/28 - 2
15-43022959-G-A c.2011C>T p.P671S Missense 14/28 - 1
15-43023121-A-G c.2007+2T>C - IntronicSNV - 13/27 1
15-43023123-C-A c.2007G>T p.Q669H Missense 13/28 - 1
15-43023123-C-G c.2007G>C p.Q669H Missense 13/28 - 1
15-43023129-C-T c.2001G>A p.R667= Synonymous 13/28 - 1
15-43023130-CT-AG c.1999_2000inv p.R667L Missense 13/28 - 1
15-43023132-G-A c.1998C>T p.L666= Synonymous 13/28 - 1
15-43023132-G-C c.1998C>G p.L666= Synonymous 13/28 - 1
15-43023132-G-T c.1998C>A p.L666= Synonymous 13/28 - 1
15-43023135-G-A c.1995C>T p.A665= Synonymous 13/28 - 2
15-43023135-G-C c.1995C>G p.A665= Synonymous 13/28 - 1
15-43023135-G-T c.1995C>A p.A665= Synonymous 13/28 - 1
15-43023136-G-T c.1994C>A p.A665D Missense 13/28 - 1
15-43023142-A-T c.1988T>A p.I663N Missense 13/28 - 1
15-43023149-C-A c.1981G>T p.D661Y Missense 13/28 - 1
15-43023151-T-C c.1979A>G p.Q660R Missense 13/28 - 2
15-43023155-G-A c.1975C>T p.L659F Missense 13/28 - 5
15-43023161-C-A c.1969G>T p.G657C Missense 13/28 - 1
15-43023161-C-T c.1969G>A p.G657S Missense 13/28 - 5
15-43023163-G-C c.1967C>G p.T656S Missense 13/28 - 6
15-43023164-T-A c.1966A>T p.T656S Missense 13/28 - 2
15-43023166-G-A c.1964C>T p.P655L Missense 13/28 - 1
15-43023168-G-A c.1962C>T p.P654= Synonymous 13/28 - 1
15-43023168-G-C c.1962C>G p.P654= Synonymous 13/28 - 1
15-43023168-G-T c.1962C>A p.P654= Synonymous 13/28 - 1
15-43023171-A-C c.1959T>G p.P653= Synonymous 13/28 - 1
15-43023171-A-G c.1959T>C p.P653= Synonymous 13/28 - 1
15-43023171-A-T c.1959T>A p.P653= Synonymous 13/28 - 1
15-43023181-C-G c.1949G>C p.G650A Missense 13/28 - 1
15-43023182-C-A c.1948G>T p.G650W Missense 13/28 - 1
15-43023185-G-A c.1945C>T p.R649W Missense 13/28 - 4
15-43023191-G-A c.1939C>T p.P647S Missense 13/28 - 1
15-43023192-C-A c.1938G>T p.L646= Synonymous 13/28 - 1
15-43023192-C-G c.1938G>C p.L646= Synonymous 13/28 - 1
15-43023192-C-T c.1938G>A p.L646= Synonymous 13/28 - 1
15-43023194-G-A c.1936C>T p.L646= Synonymous 13/28 - 1
15-43023193-A-AG c.1936dup p.L646Pfs*7 Frameshift 13/28 - 2
15-43023195-G-A c.1935C>T p.F645= Synonymous 13/28 - 1
15-43023196-A-G c.1934T>C p.F645S Missense 13/28 - 1
15-43023204-A-C c.1926T>G p.F642L Missense 13/28 - 1
15-43023204-A-T c.1926T>A p.F642L Missense 13/28 - 1
15-43023206-A-G c.1924T>C p.F642L Missense 13/28 - 1
15-43023208-C-T c.1922G>A p.G641D Missense 13/28 - 1
15-43023212-G-C c.1918C>G p.L640V Missense 13/28 - 1
15-43023221-C-T c.1909G>A p.A637T Missense 13/28 - 1
15-43023229-C-T c.1901G>A p.R634K Missense 13/28 - 1
15-43023229-CT-TG c.1900_1901delinsCA p.R634Q Missense 13/28 - 1
15-43023242-G-A c.1888C>T p.L630F Missense 13/28 - 2
15-43023242-G-C c.1888C>G p.L630V Missense 13/28 - 1
15-43023247-A-C c.1883T>G p.V628G Missense 13/28 - 3
15-43023250-G-A c.1880C>T p.A627V Missense 13/28 - 1
15-43023262-C-T c.1868G>A p.R623Q Missense 13/28 - 1
15-43023263-G-A c.1867C>T p.R623W Missense 13/28 - 1
15-43023268-C-T c.1862G>A p.G621D Missense 13/28 - 1
15-43023269-C-A c.1861G>T p.G621C Missense 13/28 - 1
15-43023269-C-T c.1861G>A p.G621S Missense 13/28 - 2
15-43023304-A-C c.1861-35T>G - IntronicSNV - 12/27 6
15-43023304-A-G c.1861-35T>C - IntronicSNV - 12/27 6
15-43023404-C-T c.1860+5G>A - IntronicSNV - 12/27 2
15-43023407-A-C c.1860+2T>G - IntronicSNV - 12/27 1
15-43023418-TAC-AAA c.1849_1851delinsTTT p.V617F Missense 12/28 - 2
15-43023420-C-A c.1849G>T p.V617L Missense 12/28 - 1
15-43023420-C-T c.1849G>A p.V617I Missense 12/28 - 1
15-43023430-C-A c.1839G>T p.G613= Synonymous 12/28 - 1
15-43023432-C-A c.1837G>T p.G613W Missense 12/28 - 1
15-43023433-G-A c.1836C>T p.D612= Synonymous 12/28 - 1
15-43023436-T-G c.1833A>C p.E611D Missense 12/28 - 1
15-43023439-A-G c.1830T>C p.D610= Synonymous 12/28 - 1
15-43023439-A-T c.1830T>A p.D610E Missense 12/28 - 1
15-43023443-T-C c.1826A>G p.N609S Missense 12/28 - 3
15-43023450-C-T c.1819G>A p.E607K Missense 12/28 - 1
15-43023454-C-T c.1815G>A p.Q605= Synonymous 12/28 - 2
15-43023455-T-C c.1814A>G p.Q605R Missense 12/28 - 2
15-43023458-G-A c.1811C>T p.P604L Missense 12/28 - 1
15-43023460-C-A c.1809G>T p.L603= Synonymous 12/28 - 1
15-43023460-C-G c.1809G>C p.L603= Synonymous 12/28 - 1
15-43023460-C-T c.1809G>A p.L603= Synonymous 12/28 - 1
15-43023462-G-A c.1807C>T p.L603= Synonymous 12/28 - 1
15-43023463-G-A c.1806C>T p.A602= Synonymous 12/28 - 1
15-43023464-G-T c.1805C>A p.A602D Missense 12/28 - 1
15-43023473-T-C c.1796A>G p.N599S Missense 12/28 - 6
15-43023479-T-G c.1790A>C p.E597A Missense 12/28 - 1
15-43023480-C-T c.1789G>A p.E597K Missense 12/28 - 1
15-43023481-C-A c.1788G>T p.Q596H Missense 12/28 - 1
15-43023481-C-G c.1788G>C p.Q596H Missense 12/28 - 1
15-43023481-C-T c.1788G>A p.Q596= Synonymous 12/28 - 1
15-43023482-T-A c.1787A>T p.Q596L Missense 12/28 - 1
15-43023482-T-C c.1787A>G p.Q596R Missense 12/28 - 39
15-43023487-C-T c.1782G>A p.K594= Synonymous 12/28 - 1
15-43023498-G-A c.1771C>T p.L591= Synonymous 12/28 - 1
15-43023504-C-T c.1765G>A p.D589N Missense 12/28 - 1
15-43023506-A-G c.1763T>C p.M588T Missense 12/28 - 1
15-43023510-G-A c.1759C>T p.L587F Missense 12/28 - 1
15-43023512-T-C c.1757A>G p.H586R Missense 12/28 - 1
15-43023515-T-C c.1754A>G p.Q585R Missense 12/28 - 1
15-43023524-T-C c.1745A>G p.Q582R Missense 12/28 - 2
15-43023525-G-A c.1744C>T p.Q582* Nonsense 12/28 - 1
15-43023820-G-C c.1737C>G p.S579R Missense 11/28 - 1
15-43023821-C-T c.1736G>A p.S579N Missense 11/28 - 1
15-43023824-G-A c.1733C>T p.A578V Missense 11/28 - 1
15-43023831-G-A c.1726C>T p.L576F Missense 11/28 - 1
15-43023833-A-C c.1724T>G p.I575S Missense 11/28 - 2
15-43023837-A-G c.1720T>C p.F574L Missense 11/28 - 1
15-43023839-T-A c.1718A>T p.D573V Missense 11/28 - 1
15-43023841-C-T c.1716G>A p.R572= Synonymous 11/28 - 1
15-43023842-C-G c.1715G>C p.R572T Missense 11/28 - 1
15-43023852-C-G c.1705G>C p.G569R Missense 11/28 - 3
15-43023854-T-C c.1703A>G p.Q568R Missense 11/28 - 1
15-43023860-C-A c.1697G>T p.G566V Missense 11/28 - 1
15-43023863-G-A c.1694C>T p.P565L Missense 11/28 - 1
15-43023867-A-AG c.1689dup p.F564Lfs*9 Frameshift 11/28 - 1
15-43023869-G-A c.1688C>T p.T563I Missense 11/28 - 3
15-43023870-GT-G c.1687del p.T563Pfs*29 Frameshift 11/28 - 2
15-43023870-T-C c.1687A>G p.T563A Missense 11/28 - 1
15-43023871-G-C c.1686C>G p.P562= Synonymous 11/28 - 1
15-43023871-G-T c.1686C>A p.P562= Synonymous 11/28 - 1
15-43023873-G-T c.1684C>A p.P562T Missense 11/28 - 2
15-43023870-TG-T c.1686del p.T563Pfs*29 Frameshift 11/28 - 2
15-43023876-G-A c.1681C>T p.P561S Missense 11/28 - 1
15-43023880-G-A c.1677C>T p.C559= Synonymous 11/28 - 1
15-43023884-G-A c.1673C>T p.P558L Missense 11/28 - 2
15-43023885-G-T c.1672C>A p.P558T Missense 11/28 - 1
15-43023887-C-T c.1670G>A p.G557E Missense 11/28 - 2
15-43023885-G-GC c.1671dup p.P558Afs*15 Frameshift 11/28 - 1
15-43023895-G-C c.1662C>G p.S554R Missense 11/28 - 1
15-43023895-G-T c.1662C>A p.S554R Missense 11/28 - 1
15-43023897-T-G c.1660A>C p.S554R Missense 11/28 - 1
15-43023908-A-G c.1649T>C p.M550T Missense 11/28 - 3
15-43023913-CC-AT c.1643_1644delinsAT p.R548H Missense 11/28 - 1
15-43023914-C-T c.1643G>A p.R548Q Missense 11/28 - 2
15-43023915-G-A c.1642C>T p.R548W Missense 11/28 - 1
15-43023921-G-A c.1636C>T p.Q546* Nonsense 11/28 - 2
15-43023923-A-G c.1634T>C p.L545P Missense 11/28 - 1
15-43023925-GCG-CCA c.1630_1632delinsTGG p.R544W Missense 11/28 - 1
15-43023927-G-A c.1630C>T p.R544C Missense 11/28 - 2
15-43023928-C-T c.1629G>A p.W543* Nonsense 11/28 - 1
15-43023929-C-T c.1628G>A p.W543* Nonsense 11/28 - 1
15-43023935-C-T c.1622G>A p.R541Q Missense 11/28 - 3
15-43023936-G-A c.1621C>T p.R541W Missense 11/28 - 3
15-43023950-G-C c.1607C>G p.A536G Missense 11/28 - 1
15-43023959-A-G c.1598T>C p.M533T Missense 11/28 - 1
15-43023960-T-C c.1597A>G p.M533V Missense 11/28 - 1
15-43023962-C-T c.1595G>A p.S532N Missense 11/28 - 1
15-43023966-ACACATCTGGGGCCTCGCCCAAGACGGTGCCCCCAG-A c.1556_1590del p.A519Vfs*7 Frameshift 11/28 - 1
15-43023972-C-A c.1585G>T p.D529Y Missense 11/28 - 1
15-43023972-C-G c.1585G>C p.D529H Missense 11/28 - 1
15-43023976-G-A c.1581C>T p.A527= Synonymous 11/28 - 1
15-43023977-G-A c.1580C>T p.A527V Missense 11/28 - 2
15-43023981-C-T c.1576G>A p.E526K Missense 11/28 - 3
15-43023983-C-T c.1574G>A p.G525D Missense 11/28 - 1
15-43023988-G-C c.1569C>G p.V523= Synonymous 11/28 - 1
15-43023991-G-A c.1566C>T p.T522= Synonymous 11/28 - 1
15-43023991-G-C c.1566C>G p.T522= Synonymous 11/28 - 1
15-43023991-G-T c.1566C>A p.T522= Synonymous 11/28 - 1
15-43023996-C-A c.1561G>T p.G521C Missense 11/28 - 1
15-43023999-C-A c.1558G>T p.G520W Missense 11/28 - 2
15-43024004-C-A c.1553G>T p.G518V Missense 11/28 - 1
15-43024004-C-T c.1553G>A p.G518D Missense 11/28 - 1
15-43024007-C-G c.1550G>C p.G517A Missense 11/28 - 1
15-43024007-C-T c.1550G>A p.G517D Missense 11/28 - 1
15-43024010-G-A c.1547C>T p.P516L Missense 11/28 - 1
15-43024016-T-C c.1541A>G p.Q514R Missense 11/28 - 1
15-43024018-A-C c.1539T>G p.C513W Missense 11/28 - 1
15-43024023-T-C c.1534A>G p.M512V Missense 11/28 - 1
15-43024063-C-A c.1534-40G>T - IntronicSNV - 10/27 6
15-43024063-C-G c.1534-40G>C - IntronicSNV - 10/27 6
15-43024063-C-T c.1534-40G>A - IntronicSNV - 10/27 6
15-43024068-G-A c.1534-45C>T - IntronicSNV - 10/27 1
15-43024535-A-C c.1529T>G p.L510R Missense 10/28 - 1
15-43024536-G-A c.1528C>T p.L510F Missense 10/28 - 2
15-43024540-T-C c.1524A>G p.Q508= Synonymous 10/28 - 2
15-43024541-T-C c.1523A>G p.Q508R Missense 10/28 - 1
15-43024548-G-A c.1516C>T p.Q506* Nonsense 10/28 - 1
15-43024549-G-A c.1515C>T p.F505= Synonymous 10/28 - 1
15-43024555-CC-AT c.1508_1509delinsAT p.R503H Missense 10/28 - 1
15-43024556-C-A c.1508G>T p.R503L Missense 10/28 - 1
15-43024556-C-T c.1508G>A p.R503Q Missense 10/28 - 2
15-43024557-G-A c.1507C>T p.R503W Missense 10/28 - 3
15-43024567-G-T c.1497C>A p.S499R Missense 10/28 - 1
15-43024571-T-G c.1493A>C p.H498P Missense 10/28 - 1
15-43024574-C-T c.1490G>A p.S497N Missense 10/28 - 1
15-43024584-C-T c.1480G>A p.A494T Missense 10/28 - 5
15-43024588-G-A c.1476C>T p.L492= Synonymous 10/28 - 1
15-43024588-G-C c.1476C>G p.L492= Synonymous 10/28 - 1
15-43024588-G-T c.1476C>A p.L492= Synonymous 10/28 - 1
15-43024600-C-A c.1464G>T p.M488I Missense 10/28 - 1
15-43024600-C-G c.1464G>C p.M488I Missense 10/28 - 1
15-43024600-C-T c.1464G>A p.M488I Missense 10/28 - 1
15-43024605-C-T c.1459G>A p.A487T Missense 10/28 - 1
15-43024606-C-A c.1458G>T p.R486S Missense 10/28 - 1
15-43024606-C-G c.1458G>C p.R486S Missense 10/28 - 1
15-43025174-T-A c.1457+121A>T - IntronicSNV - 9/27 5
15-43025174-T-C c.1457+121A>G - IntronicSNV - 9/27 3
15-43025209-A-AG c.1457+85_1457+86insC - IntronicInsertion - 9/27 5
15-43025209-A-G c.1457+86T>C - IntronicSNV - 9/27 1
15-43025297-G-A c.1455C>T p.I485= Synonymous 9/28 - 2
15-43025300-T-A c.1452A>T p.R484S Missense 9/28 - 1
15-43025301-C-T c.1451G>A p.R484K Missense 9/28 - 1
15-43025311-A-T c.1441T>A p.L481M Missense 9/28 - 1
15-43025316-T-C c.1436A>G p.K479R Missense 9/28 - 1
15-43025322-A-G c.1430T>C p.F477S Missense 9/28 - 1
15-43025327-C-T c.1425G>A p.W475* Nonsense 9/28 - 2
15-43025328-C-T c.1424G>A p.W475* Nonsense 9/28 - 4
15-43025345-G-A c.1407C>T p.H469= Synonymous 9/28 - 1
15-43025346-T-G c.1406A>C p.H469P Missense 9/28 - 1
15-43025349-T-C c.1403A>G p.D468G Missense 9/28 - 1
15-43025350-C-G c.1402G>C p.D468H Missense 9/28 - 1
15-43025351-T-G c.1401A>C p.E467D Missense 9/28 - 2
15-43025353-C-T c.1399G>A p.E467K Missense 9/28 - 1
15-43025355-C-T c.1397G>A p.W466* Nonsense 9/28 - 1
15-43025359-C-T c.1393G>A p.E465K Missense 9/28 - 1
15-43025361-C-T c.1391G>A p.R464Q Missense 9/28 - 1
15-43025362-G-A c.1390C>T p.R464* Nonsense 9/28 - 4
15-43025371-C-T c.1381G>A p.E461K Missense 9/28 - 1
15-43025373-T-C c.1379A>G p.Y460C Missense 9/28 - 1
15-43025378-CAC-AAA c.1372_1374delinsTTT p.V458F Missense 9/28 - 1
15-43025389-C-T c.1368-5G>A - IntronicSNV - 8/27 1
15-43025399-C-T c.1368-15G>A - IntronicSNV - 8/27 1
15-43025524-T-G c.1368-140A>C - IntronicSNV - 8/27 3
15-43026137-T-C c.1366A>G p.R456G Missense 8/28 - 1
15-43026140-G-C c.1363C>G p.Q455E Missense 8/28 - 2
15-43026154-T-C c.1349A>G p.H450R Missense 8/28 - 1
15-43026155-G-A c.1348C>T p.H450Y Missense 8/28 - 2
15-43026160-G-A c.1343C>T p.A448V Missense 8/28 - 2
15-43026161-C-T c.1342G>A p.A448T Missense 8/28 - 1
15-43026163-C-T c.1340G>A p.R447Q Missense 8/28 - 6
15-43026169-C-G c.1334G>C p.S445T Missense 8/28 - 1
15-43026175-A-G c.1328T>C p.F443S Missense 8/28 - 1
15-43026179-T-C c.1324A>G p.N442D Missense 8/28 - 1
15-43026182-C-T c.1321G>A p.A441T Missense 8/28 - 1
15-43026184-C-T c.1319G>A p.R440H Missense 8/28 - 1
15-43026186-A-C c.1317T>G p.N439K Missense 8/28 - 1
15-43026186-A-T c.1317T>A p.N439K Missense 8/28 - 1
15-43026195-C-A c.1308G>T p.E436D Missense 8/28 - 1
15-43026197-C-T c.1306G>A p.E436K Missense 8/28 - 1
15-43026214-G-A c.1289C>T p.A430V Missense 8/28 - 1
15-43026217-T-C c.1286A>G p.Q429R Missense 8/28 - 1
15-43026218-G-C c.1285C>G p.Q429E Missense 8/28 - 3
15-43026223-G-A c.1280C>T p.S427F Missense 8/28 - 2
15-43026223-G-C c.1280C>G p.S427C Missense 8/28 - 1
15-43026223-G-T c.1280C>A p.S427Y Missense 8/28 - 1
15-43026227-G-A c.1276C>T p.P426S Missense 8/28 - 1
15-43026228-A-C c.1275T>G p.P425= Synonymous 8/28 - 1
15-43026228-A-G c.1275T>C p.P425= Synonymous 8/28 - 2
15-43026228-A-T c.1275T>A p.P425= Synonymous 8/28 - 1
15-43026230-G-C c.1273C>G p.P425A Missense 8/28 - 1
15-43026234-C-G c.1269G>C p.V423= Synonymous 8/28 - 2
15-43026238-AG-TA c.1264_1265delinsTA p.L422* Nonsense 8/28 - 1
15-43026240-A-AG c.1262dup p.L422Sfs*17 Frameshift 8/28 - 1
15-43026237-CAG-C c.1264_1265del p.L422Gfs*16 Frameshift 8/28 - 1
15-43026359-C-T c.1257+65G>A - IntronicSNV - 7/27 1
15-43026426-T-A c.1255A>T p.K419* Nonsense 7/28 - 1
15-43026431-A-C c.1250T>G p.V417G Missense 7/28 - 3
15-43026432-C-T c.1249G>A p.V417I Missense 7/28 - 2
15-43026439-C-G c.1242G>C p.E414D Missense 7/28 - 1
15-43026441-C-T c.1240G>A p.E414K Missense 7/28 - 1
15-43026447-C-G c.1234G>C p.A412P Missense 7/28 - 1
15-43026449-G-C c.1232C>G p.A411G Missense 7/28 - 3
15-43026450-C-T c.1231G>A p.A411T Missense 7/28 - 1
15-43026451-TCG-ACA c.1228_1230delinsTGT p.R410C Missense 7/28 - 1
15-43026452-C-G c.1229G>C p.R410P Missense 7/28 - 1
15-43026452-CG-TT c.1228_1229delinsAA p.R410K Missense 7/28 - 1
15-43026452-C-T c.1229G>A p.R410Q Missense 7/28 - 3
15-43026456-G-T c.1225C>A p.L409I Missense 7/28 - 1
15-43026457-GC-TT c.1223_1224delinsAA p.R408Q Missense 7/28 - 1
15-43026468-G-C c.1213C>G p.L405V Missense 7/28 - 1
15-43026473-G-T c.1208C>A p.P403Q Missense 7/28 - 2
15-43026474-G-T c.1207C>A p.P403T Missense 7/28 - 2
15-43026479-A-C c.1202T>G p.F401C Missense 7/28 - 1
15-43026491-C-T c.1190G>A p.R397Q Missense 7/28 - 1
15-43026492-G-A c.1189C>T p.R397W Missense 7/28 - 7
15-43026495-C-T c.1186G>A p.E396K Missense 7/28 - 1
15-43026498-T-C c.1183A>G p.N395D Missense 7/28 - 1
15-43026507-G-A c.1174C>T p.L392= Synonymous 7/28 - 1
15-43026518-G-A c.1163C>T p.T388I Missense 7/28 - 2
15-43026521-C-T c.1160G>A p.G387E Missense 7/28 - 1
15-43026529-CA-AT c.1151_1152delinsAT p.L384H Missense 7/28 - 1
15-43026533-T-C c.1148A>G p.N383S Missense 7/28 - 1
15-43026537-A-G c.1144T>C p.S382P Missense 7/28 - 1
15-43026540-G-A c.1141C>T p.L381F Missense 7/28 - 1
15-43026540-G-T c.1141C>A p.L381I Missense 7/28 - 1
15-43026542-A-G c.1139T>C p.V380A Missense 7/28 - 1
15-43026544-C-T c.1137G>A p.Q379= Synonymous 7/28 - 1
15-43026625-T-A c.1137-81A>T - IntronicSNV - 6/27 2
15-43026628-C-CT c.1137-85dup - IntronicInsertion - 6/27 1
15-43026892-A-G c.1137-348T>C - IntronicSNV - 6/27 1
15-43027299-G-A c.1135C>T p.Q379* Nonsense 6/28 - 1
15-43027300-A-C c.1134T>G p.F378L Missense 6/28 - 1
15-43027307-CA-GT c.1126_1127delinsAC p.C376T Missense 6/28 - 1
15-43027307-C-T c.1127G>A p.C376Y Missense 6/28 - 1
15-43027311-C-T c.1123G>A p.E375K Missense 6/28 - 1
15-43027312-C-A c.1122G>T p.L374F Missense 6/28 - 1
15-43027312-C-G c.1122G>C p.L374F Missense 6/28 - 1
15-43027315-A-C c.1119T>G p.V373= Synonymous 6/28 - 1
15-43027316-AACC-A c.1116_1118del p.Q372_V373delinsH MultiAAMissense 6/28 - 1
15-43027318-C-A c.1116G>T p.Q372H Missense 6/28 - 1
15-43027318-C-G c.1116G>C p.Q372H Missense 6/28 - 1
15-43027318-C-T c.1116G>A p.Q372= Synonymous 6/28 - 1
15-43027322-A-G c.1112T>C p.V371A Missense 6/28 - 1
15-43027323-C-A c.1111G>T p.V371L Missense 6/28 - 1
15-43027323-C-G c.1111G>C p.V371L Missense 6/28 - 1
15-43027323-C-T c.1111G>A p.V371M Missense 6/28 - 1
15-43027330-G-C c.1104C>G p.F368L Missense 6/28 - 1
15-43027330-G-T c.1104C>A p.F368L Missense 6/28 - 1
15-43027332-A-G c.1102T>C p.F368L Missense 6/28 - 1
15-43027335-C-T c.1099G>A p.V367I Missense 6/28 - 1
15-43027342-G-A c.1092C>T p.H364= Synonymous 6/28 - 1
15-43027343-T-A c.1091A>T p.H364L Missense 6/28 - 1
15-43027349-C-T c.1085G>A p.S362N Missense 6/28 - 2
15-43027354-G-C c.1080C>G p.F360L Missense 6/28 - 1
15-43027354-G-T c.1080C>A p.F360L Missense 6/28 - 1
15-43027356-A-G c.1078T>C p.F360L Missense 6/28 - 2
15-43027356-A-T c.1078T>A p.F360I Missense 6/28 - 3
15-43027362-G-C c.1072C>G p.P358A Missense 6/28 - 1
15-43027367-T-C c.1067A>G p.E356G Missense 6/28 - 1
15-43027368-C-T c.1066G>A p.E356K Missense 6/28 - 6
15-43027370-A-T c.1064T>A p.L355Q Missense 6/28 - 1
15-43027370-AG-A c.1063del p.L355Wfs*35 Frameshift 6/28 - 1
15-43027375-A-C c.1059T>G p.D353E Missense 6/28 - 2
15-43027375-A-T c.1059T>A p.D353E Missense 6/28 - 2
15-43027467-G-A c.1049C>T p.A350V Missense 5/28 - 2
15-43027468-C-A c.1048G>T p.A350S Missense 5/28 - 1
15-43027470-GG-TA c.1045_1046delinsTA p.P349* Nonsense 5/28 - 1
15-43027471-G-GT c.1044_1045insA p.P349Tfs*46 Frameshift 5/28 - 1
15-43027472-A-T c.1044T>A p.S348R Missense 5/28 - 1
15-43027486-C-T c.1030G>A p.D344N Missense 5/28 - 1
15-43027493-C-T c.1023G>A p.K341= Synonymous 5/28 - 3
15-43027497-G-A c.1019C>T p.A340V Missense 5/28 - 1
15-43027500-G-A c.1016C>T p.T339I Missense 5/28 - 1
15-43027504-C-A c.1012G>T p.V338L Missense 5/28 - 1
15-43027504-C-G c.1012G>C p.V338L Missense 5/28 - 1
15-43027505-C-A c.1011G>T p.M337I Missense 5/28 - 1
15-43027505-C-G c.1011G>C p.M337I Missense 5/28 - 1
15-43027505-C-T c.1011G>A p.M337I Missense 5/28 - 1
15-43027511-C-A c.1005G>T p.R335= Synonymous 5/28 - 1
15-43027511-C-G c.1005G>C p.R335= Synonymous 5/28 - 1
15-43027511-C-T c.1005G>A p.R335= Synonymous 5/28 - 1
15-43027513-G-A c.1003C>T p.R335W Missense 5/28 - 2
15-43027513-G-T c.1003C>A p.R335= Synonymous 5/28 - 1
15-43027515-G-C c.1001C>G p.A334G Missense 5/28 - 1
15-43027522-G-A c.994C>T p.L332F Missense 5/28 - 1
15-43027526-C-A c.990G>T p.Q330H Missense 5/28 - 1
15-43027526-C-G c.990G>C p.Q330H Missense 5/28 - 1
15-43027529-A-C c.987T>G p.F329L Missense 5/28 - 1
15-43027529-A-T c.987T>A p.F329L Missense 5/28 - 1
15-43027531-A-G c.985T>C p.F329L Missense 5/28 - 2
15-43027534-C-T c.982G>A p.V328I Missense 5/28 - 2
15-43027535-G-A c.981C>T p.F327= Synonymous 5/28 - 2
15-43027544-C-A c.972G>T p.E324D Missense 5/28 - 1
15-43027544-C-G c.972G>C p.E324D Missense 5/28 - 1
15-43027546-C-T c.970G>A p.E324K Missense 5/28 - 1
15-43027545-TC-T c.970del p.E324Sfs*15 Frameshift 5/28 - 1
15-43027549-A-G c.967T>C p.L323= Synonymous 5/28 - 1
15-43027553-G-A c.963C>T p.L321= Synonymous 5/28 - 1
15-43027555-G-A c.961C>T p.L321F Missense 5/28 - 1
15-43027562-T-C c.954A>G p.V318= Synonymous 5/28 - 1
15-43027565-C-T c.951G>A p.L317= Synonymous 5/28 - 1
15-43027708-C-T c.943G>A p.E315K Missense 4/28 - 1
15-43027713-A-G c.938T>C p.I313T Missense 4/28 - 1
15-43027716-CA-GT c.934_935delinsAC p.C312T Missense 4/28 - 1
15-43027719-G-A c.932C>T p.S311L Missense 4/28 - 2
15-43027722-G-A c.929C>T p.S310F Missense 4/28 - 1
15-43027732-G-A c.919C>T p.L307F Missense 4/28 - 1
15-43027740-A-G c.911T>C p.L304P Missense 4/28 - 1
15-43027741-G-A c.910C>T p.L304F Missense 4/28 - 1
15-43027744-C-G c.907G>C p.E303Q Missense 4/28 - 1
15-43027745-C-T c.906G>A p.L302= Synonymous 4/28 - 1
15-43027747-G-C c.904C>G p.L302V Missense 4/28 - 2
15-43027748-GCG-CCA c.901_903delinsTGG p.R301W Missense 4/28 - 1
15-43027753-G-C c.898C>G p.Q300E Missense 4/28 - 1
15-43027754-GCG-CCA c.895_897delinsTGG p.R299W Missense 4/28 - 1
15-43027754-G-T c.897C>A p.R299= Synonymous 4/28 - 1
15-43027756-G-A c.895C>T p.R299C Missense 4/28 - 1
15-43027756-G-T c.895C>A p.R299S Missense 4/28 - 1
15-43027758-G-A c.893C>T p.S298F Missense 4/28 - 2
15-43027766-T-C c.885A>G p.R295= Synonymous 4/28 - 1
15-43027768-T-G c.883A>C p.R295= Synonymous 4/28 - 1
15-43027767-C-T c.884G>A p.R295K Missense 4/28 - 1
15-43027770-G-C c.881C>G p.A294G Missense 4/28 - 1
15-43027773-G-C c.878C>G p.P293R Missense 4/28 - 1
15-43027774-G-A c.877C>T p.P293S Missense 4/28 - 1
15-43027777-C-T c.874G>A p.D292N Missense 4/28 - 1
15-43027786-C-A c.865G>T p.E289* Nonsense 4/28 - 1
15-43027795-G-A c.856C>T p.L286F Missense 4/28 - 1
15-43027795-G-T c.856C>A p.L286I Missense 4/28 - 1
15-43027796-G-A c.855C>T p.S285= Synonymous 4/28 - 1
15-43027796-G-C c.855C>G p.S285R Missense 4/28 - 2
15-43027796-G-T c.855C>A p.S285R Missense 4/28 - 2
15-43027798-T-G c.853A>C p.S285R Missense 4/28 - 2
15-43027797-C-T c.854G>A p.S285N Missense 4/28 - 1
15-43027800-C-T c.851G>A p.G284E Missense 4/28 - 3
15-43027805-C-G c.846G>C p.R282= Synonymous 4/28 - 1
15-43027806-C-T c.845G>A p.R282Q Missense 4/28 - 1
15-43027807-G-A c.844C>T p.R282W Missense 4/28 - 4
15-43027808-G-T c.843C>A p.S281R Missense 4/28 - 1
15-43027818-G-A c.833C>T p.P278L Missense 4/28 - 1
15-43027819-G-A c.832C>T p.P278S Missense 4/28 - 1
15-43027820-C-A c.831G>T p.S277= Synonymous 4/28 - 1
15-43027820-C-G c.831G>C p.S277= Synonymous 4/28 - 1
15-43027820-C-T c.831G>A p.S277= Synonymous 4/28 - 3
15-43027821-G-A c.830C>T p.S277L Missense 4/28 - 2
15-43027824-C-T c.827G>A p.G276E Missense 4/28 - 1
15-43027827-A-G c.824T>C p.L275S Missense 4/28 - 1
15-43027831-C-A c.820G>T p.E274* Nonsense 4/28 - 1
15-43027835-G-A c.816C>T p.T272= Synonymous 4/28 - 1
15-43027835-G-C c.816C>G p.T272= Synonymous 4/28 - 1
15-43027835-G-T c.816C>A p.T272= Synonymous 4/28 - 8
15-43027837-TG-T c.813del p.T272Pfs*34 Frameshift 4/28 - 1
15-43027843-A-C c.808T>G p.C270G Missense 4/28 - 1
15-43027843-A-G c.808T>C p.C270R Missense 4/28 - 2
15-43027844-G-A c.807C>T p.T269= Synonymous 4/28 - 2
15-43027848-G-C c.803C>G p.P268R Missense 4/28 - 1
15-43027849-G-A c.802C>T p.P268S Missense 4/28 - 1
15-43027850-G-A c.801C>T p.T267= Synonymous 4/28 - 1
15-43027850-G-C c.801C>G p.T267= Synonymous 4/28 - 1
15-43027850-G-T c.801C>A p.T267= Synonymous 4/28 - 1
15-43027852-T-A c.799A>T p.T267S Missense 4/28 - 1
15-43027859-C-A c.792G>T p.Q264H Missense 4/28 - 1
15-43027859-C-G c.792G>C p.Q264H Missense 4/28 - 1
15-43027860-T-C c.791A>G p.Q264R Missense 4/28 - 1
15-43027860-T-G c.791A>C p.Q264P Missense 4/28 - 1
15-43027864-G-C c.787C>G p.Q263E Missense 4/28 - 1
15-43027966-C-A c.774-89G>T - IntronicSNV - 3/27 1
15-43028074-G-A c.772C>T p.R258C Missense 3/28 - 1
15-43028084-G-A c.762C>T p.L254= Synonymous 3/28 - 1
15-43028085-A-G c.761T>C p.L254P Missense 3/28 - 1
15-43028088-ATC-A c.756_757del p.E252Dfs*8 Frameshift 3/28 - 1
15-43028094-C-T c.752G>A p.R251Q Missense 3/28 - 1
15-43028093-T-A c.753A>T p.R251= Synonymous 3/28 - 1
15-43028093-T-C c.753A>G p.R251= Synonymous 3/28 - 1
15-43028093-T-G c.753A>C p.R251= Synonymous 3/28 - 1
15-43028095-G-A c.751C>T p.R251* Nonsense 3/28 - 1
15-43028095-G-T c.751C>A p.R251= Synonymous 3/28 - 1
15-43028098-C-T c.748G>A p.E250K Missense 3/28 - 1
15-43028099-C-T c.747G>A p.E249= Synonymous 3/28 - 1
15-43028100-T-C c.746A>G p.E249G Missense 3/28 - 1
15-43028101-C-T c.745G>A p.E249K Missense 3/28 - 1
15-43028102-T-A c.744A>T p.Q248H Missense 3/28 - 1
15-43028102-T-G c.744A>C p.Q248H Missense 3/28 - 1
15-43028107-G-C c.739C>G p.L247V Missense 3/28 - 1
15-43028111-TCT-ACA c.733_735delinsTGT p.R245C Missense 3/28 - 1
15-43028115-CA-GT c.730_731delinsAC p.C244T Missense 3/28 - 1
15-43028115-C-T c.731G>A p.C244Y Missense 3/28 - 1
15-43028117-C-G c.729G>C p.G243= Synonymous 3/28 - 1
15-43028118-C-T c.728G>A p.G243E Missense 3/28 - 1
15-43028119-C-G c.727G>C p.G243R Missense 3/28 - 1
15-43028119-C-T c.727G>A p.G243R Missense 3/28 - 1
15-43028122-G-C c.724C>G p.P242A Missense 3/28 - 1
15-43028124-G-A c.722C>T p.P241L Missense 3/28 - 4
15-43028125-G-A c.721C>T p.P241S Missense 3/28 - 2
15-43028126-A-C c.720T>G p.L240= Synonymous 3/28 - 1
15-43028126-A-G c.720T>C p.L240= Synonymous 3/28 - 1
15-43028126-A-T c.720T>A p.L240= Synonymous 3/28 - 1
15-43028129-GC-CT c.716_717delinsAG p.G239E Missense 3/28 - 1
15-43028130-C-T c.716G>A p.G239D Missense 3/28 - 1
15-43028135-G-A c.711C>T p.G237= Synonymous 3/28 - 3
15-43028135-G-C c.711C>G p.G237= Synonymous 3/28 - 2
15-43028135-G-T c.711C>A p.G237= Synonymous 3/28 - 2
15-43028139-C-T c.707G>A p.W236* Nonsense 3/28 - 1
15-43028142-G-T c.704C>A p.P235H Missense 3/28 - 1
15-43028143-G-T c.703C>A p.P235T Missense 3/28 - 1
15-43028145-C-T c.701G>A p.S234N Missense 3/28 - 1
15-43028148-G-A c.698C>T p.T233I Missense 3/28 - 2
15-43028150-G-A c.696C>T p.D232= Synonymous 3/28 - 2
15-43028157-G-T c.689C>A p.A230D Missense 3/28 - 1
15-43028158-C-T c.688G>A p.A230T Missense 3/28 - 6
15-43028164-G-A c.682C>T p.P228S Missense 3/28 - 1
15-43028165-T-C c.681A>G p.Q227= Synonymous 3/28 - 1
15-43028169-G-A c.677C>T p.S226F Missense 3/28 - 1
15-43028173-T-C c.673A>G p.S225G Missense 3/28 - 1
15-43028180-A-G c.666T>C p.C222= Synonymous 3/28 - 1
15-43028181-CAGCTGATTGGGGGTGAGGTGA-C c.644_664del p.F215_S221del InFrameDeletion 3/28 - 1
15-43028186-G-A c.660C>T p.I220= Synonymous 3/28 - 2
15-43028186-G-T c.660C>A p.I220= Synonymous 3/28 - 1
15-43028188-T-C c.658A>G p.I220V Missense 3/28 - 1
15-43028191-G-A c.655C>T p.P219S Missense 3/28 - 1
15-43028191-G-C c.655C>G p.P219A Missense 3/28 - 1
15-43028192-G-A c.654C>T p.P218= Synonymous 3/28 - 1
15-43028192-G-C c.654C>G p.P218= Synonymous 3/28 - 1
15-43028192-G-T c.654C>A p.P218= Synonymous 3/28 - 1
15-43028194-G-A c.652C>T p.P218S Missense 3/28 - 1
15-43028199-G-C c.647C>G p.T216S Missense 3/28 - 1
15-43028200-T-A c.646A>T p.T216S Missense 3/28 - 1
15-43028205-C-T c.641G>A p.C214Y Missense 3/28 - 2
15-43028212-T-A c.634A>T p.K212* Nonsense 3/28 - 1
15-43028213-G-A c.633C>T p.P211= Synonymous 3/28 - 1
15-43028213-G-C c.633C>G p.P211= Synonymous 3/28 - 1
15-43028213-G-T c.633C>A p.P211= Synonymous 3/28 - 1
15-43028214-G-A c.632C>T p.P211L Missense 3/28 - 1
15-43028221-A-C c.625T>G p.S209A Missense 3/28 - 1
15-43028222-G-A c.624C>T p.L208= Synonymous 3/28 - 2
15-43028222-G-C c.624C>G p.L208= Synonymous 3/28 - 4
15-43028222-G-T c.624C>A p.L208= Synonymous 3/28 - 3
15-43028224-G-T c.622C>A p.L208I Missense 3/28 - 1
15-43028229-C-T c.617G>A p.R206Q Missense 3/28 - 1
15-43028230-G-A c.616C>T p.R206W Missense 3/28 - 3
15-43028231-C-G c.615G>C p.E205D Missense 3/28 - 1
15-43028233-C-T c.613G>A p.E205K Missense 3/28 - 3
15-43028241-A-G c.605T>C p.V202A Missense 3/28 - 1
15-43028242-C-T c.604G>A p.V202M Missense 3/28 - 1
15-43028247-G-C c.599C>G p.T200S Missense 3/28 - 1
15-43028248-T-A c.598A>T p.T200S Missense 3/28 - 1
15-43028256-A-G c.590T>C p.I197T Missense 3/28 - 1
15-43028258-C-T c.588G>A p.R196= Synonymous 3/28 - 1
15-43028260-T-G c.586A>C p.R196= Synonymous 3/28 - 1
15-43028259-C-A c.587G>T p.R196M Missense 3/28 - 2
15-43028260-T-C c.586A>G p.R196G Missense 3/28 - 1
15-43028261-G-T c.585C>A p.R195= Synonymous 3/28 - 1
15-43028262-C-T c.584G>A p.R195H Missense 3/28 - 1
15-43028265-G-A c.581C>T p.S194F Missense 3/28 - 2
15-43028266-A-G c.580T>C p.S194P Missense 3/28 - 2
15-43028268-G-A c.578C>T p.P193L Missense 3/28 - 1
15-43028273-C-T c.573G>A p.T191= Synonymous 3/28 - 1
15-43028274-G-A c.572C>T p.T191M Missense 3/28 - 1
15-43028500-C-T c.569G>A p.G190E Missense 2/28 - 2
15-43028502-T-C c.567A>G p.T189= Synonymous 2/28 - 1
15-43028509-C-T c.560G>A p.G187D Missense 2/28 - 2
15-43028510-C-T c.559G>A p.G187S Missense 2/28 - 2
15-43028511-G-C c.558C>G p.P186= Synonymous 2/28 - 4
15-43028512-G-A c.557C>T p.P186L Missense 2/28 - 1
15-43028512-G-C c.557C>G p.P186R Missense 2/28 - 1
15-43028512-G-T c.557C>A p.P186H Missense 2/28 - 1
15-43028515-G-A c.554C>T p.P185L Missense 2/28 - 3
15-43028515-G-T c.554C>A p.P185H Missense 2/28 - 2
15-43028510-C-CG c.558dup p.G187Rfs*48 Frameshift 2/28 - 1
15-43028518-A-T c.551T>A p.V184D Missense 2/28 - 1
15-43028520-C-A c.549G>T p.S183= Synonymous 2/28 - 1
15-43028520-C-G c.549G>C p.S183= Synonymous 2/28 - 1
15-43028520-C-T c.549G>A p.S183= Synonymous 2/28 - 1
15-43028521-G-A c.548C>T p.S183L Missense 2/28 - 1
15-43028529-G-A c.540C>T p.P180= Synonymous 2/28 - 1
15-43028529-G-C c.540C>G p.P180= Synonymous 2/28 - 1
15-43028530-G-A c.539C>T p.P180L Missense 2/28 - 2
15-43028533-G-A c.536C>T p.P179L Missense 2/28 - 3
15-43028534-G-A c.535C>T p.P179S Missense 2/28 - 1
15-43028535-G-A c.534C>T p.F178= Synonymous 2/28 - 3
15-43028536-A-T c.533T>A p.F178Y Missense 2/28 - 1
15-43028537-A-T c.532T>A p.F178I Missense 2/28 - 1
15-43028542-T-A c.527A>T p.E176V Missense 2/28 - 2
15-43028552-T-C c.517A>G p.S173G Missense 2/28 - 1
15-43028574-C-A c.495G>T p.T165= Synonymous 2/28 - 1
15-43028574-C-G c.495G>C p.T165= Synonymous 2/28 - 1
15-43028574-C-T c.495G>A p.T165= Synonymous 2/28 - 1
15-43028575-G-A c.494C>T p.T165M Missense 2/28 - 1
15-43028583-G-A c.486C>T p.P162= Synonymous 2/28 - 1
15-43028586-GC-TT c.482_483delinsAA p.R161Q Missense 2/28 - 1
15-43028587-C-A c.482G>T p.R161L Missense 2/28 - 1
15-43028588-G-A c.481C>T p.R161C Missense 2/28 - 1
15-43028589-G-A c.480C>T p.S160= Synonymous 2/28 - 1
15-43028592-G-A c.477C>T p.P159= Synonymous 2/28 - 13
15-43028592-G-C c.477C>G p.P159= Synonymous 2/28 - 1
15-43028592-G-T c.477C>A p.P159= Synonymous 2/28 - 1
15-43028595-G-A c.474C>T p.S158= Synonymous 2/28 - 1
15-43028592-G-GGGGCGGCTA c.476_477insTAGCCGCCC p.R161_S163dup InFrameInsertion 2/28 - 2
15-43028598-G-A c.471C>T p.G157= Synonymous 2/28 - 1
15-43028598-G-C c.471C>G p.G157= Synonymous 2/28 - 1
15-43028598-G-T c.471C>A p.G157= Synonymous 2/28 - 1
15-43028599-C-T c.470G>A p.G157D Missense 2/28 - 2
15-43028603-A-C c.466T>G p.S156A Missense 2/28 - 1
15-43028617-CG-AT c.451_452delinsAT p.R151M Missense 2/28 - 1
15-43028618-G-C c.451C>G p.R151G Missense 2/28 - 1
15-43028619-G-A c.450C>T p.G150= Synonymous 2/28 - 2
15-43028619-G-C c.450C>G p.G150= Synonymous 2/28 - 2
15-43028619-G-T c.450C>A p.G150= Synonymous 2/28 - 2
15-43028620-C-A c.449G>T p.G150V Missense 2/28 - 1
15-43028620-C-T c.449G>A p.G150D Missense 2/28 - 1
15-43028621-C-T c.448G>A p.G150S Missense 2/28 - 1
15-43028626-G-A c.443C>T p.A148V Missense 2/28 - 7
15-43028638-CT-AA c.430_431delinsTT p.S144F Missense 2/28 - 1
15-43028640-C-A c.429G>T p.E143D Missense 2/28 - 1
15-43028640-C-G c.429G>C p.E143D Missense 2/28 - 1
15-43028643-C-T c.426G>A p.G142= Synonymous 2/28 - 1
15-43028651-C-A c.418G>T p.V140F Missense 2/28 - 1
15-43028656-T-G c.413A>C p.E138A Missense 2/28 - 1
15-43028660-C-T c.409G>A p.E137K Missense 2/28 - 1
15-43028661-C-A c.408G>T p.L136= Synonymous 2/28 - 1
15-43028661-C-G c.408G>C p.L136= Synonymous 2/28 - 1
15-43028661-C-T c.408G>A p.L136= Synonymous 2/28 - 1
15-43028663-G-A c.406C>T p.L136= Synonymous 2/28 - 1
15-43028664-G-A c.405C>T p.G135= Synonymous 2/28 - 1
15-43028666-C-T c.403G>A p.G135S Missense 2/28 - 1
15-43028673-T-A c.396A>T p.G132= Synonymous 2/28 - 1
15-43028673-T-C c.396A>G p.G132= Synonymous 2/28 - 1
15-43028673-T-G c.396A>C p.G132= Synonymous 2/28 - 1
15-43028674-C-T c.395G>A p.G132E Missense 2/28 - 1
15-43028677-C-T c.392G>A p.R131H Missense 2/28 - 1
15-43028681-C-T c.388G>A p.E130K Missense 2/28 - 1
15-43028683-C-A c.386G>T p.R129L Missense 2/28 - 1
15-43028683-C-T c.386G>A p.R129H Missense 2/28 - 3
15-43028684-G-T c.385C>A p.R129S Missense 2/28 - 1
15-43028686-G-T c.383C>A p.A128D Missense 2/28 - 1
15-43028687-C-G c.382G>C p.A128P Missense 2/28 - 1
15-43028689-G-A c.380C>T p.P127L Missense 2/28 - 1
15-43028691-CCC-GCT c.376_378delinsAGC p.G126S Missense 2/28 - 1
15-43028697-G-C c.372C>G p.G124= Synonymous 2/28 - 1
15-43028700-CCG-ACA c.367_369delinsTGT p.R123C Missense 2/28 - 1
15-43028701-C-T c.368G>A p.R123Q Missense 2/28 - 1
15-43028710-C-T c.359G>A p.G120D Missense 2/28 - 1
15-43028711-C-T c.358G>A p.G120S Missense 2/28 - 1
15-43028719-C-T c.350G>A p.R117H Missense 2/28 - 1
15-43028722-G-A c.347C>T p.A116V Missense 2/28 - 2
15-43028730-G-A c.339C>T p.A113= Synonymous 2/28 - 1
15-43028730-G-C c.339C>G p.A113= Synonymous 2/28 - 1
15-43028730-G-T c.339C>A p.A113= Synonymous 2/28 - 1
15-43028743-G-A c.326C>T p.T109I Missense 2/28 - 1
15-43028749-T-A c.320A>T p.Q107L Missense 2/28 - 30
15-43028753-C-T c.316G>A p.A106T Missense 2/28 - 1
15-43028758-G-A c.311C>T p.T104I Missense 2/28 - 1
15-43028759-T-C c.310A>G p.T104A Missense 2/28 - 1
15-43028771-G-C c.298C>G p.L100V Missense 2/28 - 1
15-43028773-T-C c.296A>G p.Q99R Missense 2/28 - 1
15-43028776-CT-AA c.292_293delinsTT p.S98F Missense 2/28 - 1
15-43028780-G-A c.289C>T p.R97C Missense 2/28 - 1
15-43028780-G-C c.289C>G p.R97G Missense 2/28 - 1
15-43028782-G-A c.287C>T p.A96V Missense 2/28 - 1
15-43028791-C-T c.278G>A p.S93N Missense 2/28 - 1
15-43028796-C-A c.273G>T p.R91= Synonymous 2/28 - 1
15-43028796-C-G c.273G>C p.R91= Synonymous 2/28 - 1
15-43028796-C-T c.273G>A p.R91= Synonymous 2/28 - 1
15-43028798-G-A c.271C>T p.R91W Missense 2/28 - 1
15-43028798-G-T c.271C>A p.R91= Synonymous 2/28 - 1
15-43028803-G-A c.266C>T p.P89L Missense 2/28 - 1
15-43028809-C-T c.260G>A p.G87E Missense 2/28 - 1
15-43028813-G-A c.256C>T p.P86S Missense 2/28 - 3
15-43028814-C-T c.255G>A p.R85= Synonymous 2/28 - 1
15-43028816-T-G c.253A>C p.R85= Synonymous 2/28 - 1
15-43028819-C-G c.250G>C p.G84R Missense 2/28 - 1
15-43028819-C-T c.250G>A p.G84R Missense 2/28 - 1
15-43028825-AG-A c.243del p.L82Cfs*100 Frameshift 2/28 - 1
15-43028832-C-A c.237G>T p.S79= Synonymous 2/28 - 2
15-43028832-C-G c.237G>C p.S79= Synonymous 2/28 - 2
15-43028832-C-T c.237G>A p.S79= Synonymous 2/28 - 2
15-43028840-C-G c.229G>C p.G77R Missense 2/28 - 1
15-43028840-C-T c.229G>A p.G77S Missense 2/28 - 1
15-43028845-G-A c.224C>T p.T75I Missense 2/28 - 1
15-43028846-T-C c.223A>G p.T75A Missense 2/28 - 1
15-43028856-G-A c.213C>T p.T71= Synonymous 2/28 - 1
15-43028856-G-C c.213C>G p.T71= Synonymous 2/28 - 1
15-43028856-G-T c.213C>A p.T71= Synonymous 2/28 - 1
15-43028859-CG-C c.209del p.P70Rfs*112 Frameshift 2/28 - 1
15-43028868-C-A c.201G>T p.Q67H Missense 2/28 - 1
15-43028872-G-A c.197C>T p.P66L Missense 2/28 - 1
15-43028872-G-T c.197C>A p.P66Q Missense 2/28 - 1
15-43028873-G-T c.196C>A p.P66T Missense 2/28 - 1
15-43028875-A-G c.194T>C p.L65P Missense 2/28 - 1
15-43028880-GCG-CCA c.187_189delinsTGG p.R63W Missense 2/28 - 1
15-43028882-G-A c.187C>T p.R63C Missense 2/28 - 1
15-43028887-C-A c.182G>T p.S61I Missense 2/28 - 1
15-43028889-C-A c.180G>T p.Q60H Missense 2/28 - 1
15-43028894-C-A c.175G>T p.E59* Nonsense 2/28 - 1
15-43028895-C-T c.174G>A p.R58= Synonymous 2/28 - 1
15-43028896-C-T c.173G>A p.R58K Missense 2/28 - 1
15-43028899-A-G c.170T>C p.L57P Missense 2/28 - 1
15-43028902-A-C c.167T>G p.F56C Missense 2/28 - 1
15-43028906-T-C c.163A>G p.N55D Missense 2/28 - 1
15-43028909-A-C c.160T>G p.L54V Missense 2/28 - 1
15-43028912-G-A c.157C>T p.L53= Synonymous 2/28 - 2
15-43028913-G-A c.156C>T p.F52= Synonymous 2/28 - 1
15-43028913-G-C c.156C>G p.F52L Missense 2/28 - 4
15-43028913-G-T c.156C>A p.F52L Missense 2/28 - 1
15-43028915-A-G c.154T>C p.F52L Missense 2/28 - 1
15-43028917-G-A c.152C>T p.P51L Missense 2/28 - 2
15-43028927-C-A c.142G>T p.E48* Nonsense 2/28 - 1
15-43028938-GC-CG c.130_131delinsCG p.A44R Missense 2/28 - 1
15-43028939-C-G c.130G>C p.A44P Missense 2/28 - 1
15-43028939-C-T c.130G>A p.A44T Missense 2/28 - 2
15-43028941-C-T c.128G>A p.R43Q Missense 2/28 - 1
15-43028942-G-A c.127C>T p.R43W Missense 2/28 - 2
15-43028946-T-G c.123A>C p.S41= Synonymous 2/28 - 1
15-43028949-G-C c.120C>G p.S40R Missense 2/28 - 1
15-43028949-G-T c.120C>A p.S40R Missense 2/28 - 1
15-43028951-T-G c.118A>C p.S40R Missense 2/28 - 1
15-43028955-C-T c.114G>A p.A38= Synonymous 2/28 - 1
15-43028957-C-T c.112G>A p.A38T Missense 2/28 - 1
15-43028961-C-A c.108G>T p.A36= Synonymous 2/28 - 1
15-43028962-G-A c.107C>T p.A36V Missense 2/28 - 2
15-43028963-C-T c.106G>A p.A36T Missense 2/28 - 2
15-43028965-T-C c.104A>G p.E35G Missense 2/28 - 1
15-43028967-C-T c.102G>A p.G34= Synonymous 2/28 - 1
15-43028972-C-G c.97G>C p.A33P Missense 2/28 - 1
15-43028972-C-T c.97G>A p.A33T Missense 2/28 - 1
15-43028973-G-C c.96C>G p.N32K Missense 2/28 - 1
15-43028973-G-T c.96C>A p.N32K Missense 2/28 - 2
15-43028976-TA-T c.93del p.D31Efs*9 Frameshift 2/28 - 1
15-43029111-G-A c.90+100C>T - IntronicSNV - 1/27 1
15-43029213-C-G c.88G>C p.E30Q Missense 1/28 - 1
15-43029216-A-C c.85T>G p.S29A Missense 1/28 - 2
15-43029217-A-C c.84T>G p.G28= Synonymous 1/28 - 1
15-43029217-A-G c.84T>C p.G28= Synonymous 1/28 - 1
15-43029217-A-T c.84T>A p.G28= Synonymous 1/28 - 1
15-43029218-C-T c.83G>A p.G28D Missense 1/28 - 1
15-43029235-G-A c.66C>T p.I22= Synonymous 1/28 - 1
15-43029236-A-G c.65T>C p.I22T Missense 1/28 - 1
15-43029237-T-C c.64A>G p.I22V Missense 1/28 - 1
15-43029240-A-C c.61T>G p.W21G Missense 1/28 - 4
15-43029241-C-A c.60G>T p.R20= Synonymous 1/28 - 1
15-43029241-C-G c.60G>C p.R20= Synonymous 1/28 - 1
15-43029241-C-T c.60G>A p.R20= Synonymous 1/28 - 1
15-43029243-G-T c.58C>A p.R20= Synonymous 1/28 - 1
15-43029246-C-G c.55G>C p.V19L Missense 1/28 - 1
15-43029247-GAC-CAT c.52_54delinsATG p.V18M Missense 1/28 - 1
15-43029250-G-A c.51C>T p.A17= Synonymous 1/28 - 1
15-43029250-G-C c.51C>G p.A17= Synonymous 1/28 - 1
15-43029250-GGC-TTG c.49_51delinsCAA p.A17Q Missense 1/28 - 2
15-43029250-G-T c.51C>A p.A17= Synonymous 1/28 - 1
15-43029251-G-A c.50C>T p.A17V Missense 1/28 - 1
15-43029253-TGC-ATA c.46_48delinsTAT p.A16Y Missense 1/28 - 2
15-43029253-TG-GT c.47_48delinsAC p.A16D Missense 1/28 - 1
15-43029254-GC-TA c.46_47delinsTA p.A16* Nonsense 1/28 - 1
15-43029257-A-C c.44T>G p.V15G Missense 1/28 - 1
15-43029259-CG-AC c.41_42delinsGT p.S14C Missense 1/28 - 1
15-43029261-A-C c.40T>G p.S14A Missense 1/28 - 1
15-43029266-TC-CA c.34_35delinsTG p.E12W Missense 1/28 - 1
15-43029267-C-G c.34G>C p.E12Q Missense 1/28 - 1
15-43029267-C-T c.34G>A p.E12K Missense 1/28 - 1
15-43029271-TCG-GCT c.28_30delinsAGC p.R10S Missense 1/28 - 1
15-43029276-G-C c.25C>G p.L9V Missense 1/28 - 1
15-43029280-C-G c.21G>C p.S7= Synonymous 1/28 - 1
15-43029281-G-A c.20C>T p.S7L Missense 1/28 - 1
15-43029285-C-G c.16G>C p.E6Q Missense 1/28 - 1
15-43029289-A-C c.12T>G p.V4= Synonymous 1/28 - 1
15-43029289-A-G c.12T>C p.V4= Synonymous 1/28 - 1
15-43029289-A-T c.12T>A p.V4= Synonymous 1/28 - 1
15-43029290-A-C c.11T>G p.V4G Missense 1/28 - 2
15-43029290-A-G c.11T>C p.V4A Missense 1/28 - 1
15-43029290-A-T c.11T>A p.V4D Missense 1/28 - 1
15-43029292-G-A c.9C>T p.A3= Synonymous 1/28 - 1
15-43029292-G-C c.9C>G p.A3= Synonymous 1/28 - 1
15-43029292-G-T c.9C>A p.A3= Synonymous 1/28 - 1
15-43029293-G-A c.8C>T p.A3V Missense 1/28 - 1
15-43029314-C-T c.-14G>A - 5-UTRSNV 1/28 - 1