PCDH9

PCDH9 protocadherin 9

Annotation transcript: NM_203487.3

2024 unique variant annotations were identified in 491 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
13-66877915-G-C c.*872C>G - 3-UTRSNV 5/5 - 1
13-66878534-A-G c.*253T>C - 3-UTRSNV 5/5 - 1
13-66878790-G-A c.3711C>T p.L1237= Synonymous 5/5 - 1
13-66878791-A-T c.3710T>A p.L1237H Missense 5/5 - 2
13-66878792-G-C c.3709C>G p.L1237V Missense 5/5 - 1
13-66878794-T-C c.3707A>G p.Q1236R Missense 5/5 - 1
13-66878797-T-C c.3704A>G p.H1235R Missense 5/5 - 1
13-66878799-C-T c.3702G>A p.E1234= Synonymous 5/5 - 1
13-66878801-C-T c.3700G>A p.E1234K Missense 5/5 - 1
13-66878805-A-C c.3696T>G p.P1232= Synonymous 5/5 - 1
13-66878805-A-G c.3696T>C p.P1232= Synonymous 5/5 - 2
13-66878805-A-T c.3696T>A p.P1232= Synonymous 5/5 - 1
13-66878806-G-A c.3695C>T p.P1232L Missense 5/5 - 1
13-66878807-G-T c.3694C>A p.P1232T Missense 5/5 - 6
13-66878809-C-T c.3692G>A p.S1231N Missense 5/5 - 2
13-66878811-C-A c.3690G>T p.E1230D Missense 5/5 - 3
13-66878811-C-G c.3690G>C p.E1230D Missense 5/5 - 1
13-66878813-C-T c.3688G>A p.E1230K Missense 5/5 - 3
13-66878814-A-C c.3687T>G p.T1229= Synonymous 5/5 - 3
13-66878816-T-C c.3685A>G p.T1229A Missense 5/5 - 2
13-66878818-G-T c.3683C>A p.A1228D Missense 5/5 - 2
13-66878822-C-A c.3679G>T p.G1227C Missense 5/5 - 4
13-66878822-C-G c.3679G>C p.G1227R Missense 5/5 - 1
13-66878824-C-T c.3677G>A p.G1226E Missense 5/5 - 2
13-66878826-T-C c.3675A>G p.A1225= Synonymous 5/5 - 3
13-66878826-T-G c.3675A>C p.A1225= Synonymous 5/5 - 1
13-66878827-G-A c.3674C>T p.A1225V Missense 5/5 - 2
13-66878827-G-T c.3674C>A p.A1225E Missense 5/5 - 2
13-66878829-T-A c.3672A>T p.Q1224H Missense 5/5 - 4
13-66878829-T-C c.3672A>G p.Q1224= Synonymous 5/5 - 2
13-66878829-T-G c.3672A>C p.Q1224H Missense 5/5 - 3
13-66878831-G-T c.3670C>A p.Q1224K Missense 5/5 - 1
13-66878834-T-C c.3667A>G p.K1223E Missense 5/5 - 1
13-66878835-A-C c.3666T>G p.Y1222* Nonsense 5/5 - 1
13-66878836-T-C c.3665A>G p.Y1222C Missense 5/5 - 3
13-66878836-T-G c.3665A>C p.Y1222S Missense 5/5 - 3
13-66878838-A-G c.3663T>C p.S1221= Synonymous 5/5 - 1
13-66878839-G-T c.3662C>A p.S1221Y Missense 5/5 - 3
13-66878841-C-T c.3660G>A p.K1220= Synonymous 5/5 - 2
13-66878844-C-T c.3657G>A p.L1219= Synonymous 5/5 - 3
13-66878845-A-C c.3656T>G p.L1219R Missense 5/5 - 1
13-66878845-A-G c.3656T>C p.L1219P Missense 5/5 - 1
13-66878846-G-T c.3655C>A p.L1219M Missense 5/5 - 2
13-66878849-T-A c.3652A>T p.N1218Y Missense 5/5 - 2
13-66878854-A-G c.3647T>C p.L1216P Missense 5/5 - 1
13-66878857-G-C c.3644C>G p.P1215R Missense 5/5 - 2
13-66878860-A-T c.3641T>A p.I1214N Missense 5/5 - 1
13-66878862-G-A c.3639C>T p.D1213= Synonymous 5/5 - 1
13-66878865-T-A c.3636A>T p.T1212= Synonymous 5/5 - 1
13-66878865-T-C c.3636A>G p.T1212= Synonymous 5/5 - 1
13-66878865-T-G c.3636A>C p.T1212= Synonymous 5/5 - 1
13-66878867-T-C c.3634A>G p.T1212A Missense 5/5 - 1
13-66878868-C-T c.3633G>A p.M1211I Missense 5/5 - 1
13-66878874-G-A c.3627C>T p.S1209= Synonymous 5/5 - 1
13-66878874-G-C c.3627C>G p.S1209R Missense 5/5 - 3
13-66878874-G-T c.3627C>A p.S1209R Missense 5/5 - 3
13-66878876-T-G c.3625A>C p.S1209R Missense 5/5 - 2
13-66878875-C-T c.3626G>A p.S1209N Missense 5/5 - 4
13-66878878-C-T c.3623G>A p.G1208D Missense 5/5 - 1
13-66878891-G-A c.3610C>T p.H1204Y Missense 5/5 - 3
13-66878892-G-A c.3609C>T p.G1203= Synonymous 5/5 - 1
13-66878894-C-G c.3607G>C p.G1203R Missense 5/5 - 1
13-66878895-T-A c.3606A>T p.E1202D Missense 5/5 - 1
13-66878897-C-A c.3604G>T p.E1202* Nonsense 5/5 - 4
13-66878897-C-T c.3604G>A p.E1202K Missense 5/5 - 1
13-66878904-G-A c.3597C>T p.G1199= Synonymous 5/5 - 2
13-66878904-G-C c.3597C>G p.G1199= Synonymous 5/5 - 1
13-66878904-G-T c.3597C>A p.G1199= Synonymous 5/5 - 1
13-66878905-C-T c.3596G>A p.G1199D Missense 5/5 - 2
13-66878906-C-A c.3595G>T p.G1199C Missense 5/5 - 1
13-66878911-T-A c.3590A>T p.Q1197L Missense 5/5 - 2
13-66878912-G-A c.3589C>T p.Q1197* Nonsense 5/5 - 3
13-66878913-C-A c.3588G>T p.K1196N Missense 5/5 - 1
13-66878917-C-T c.3584G>A p.R1195H Missense 5/5 - 2
13-66878918-G-T c.3583C>A p.R1195S Missense 5/5 - 1
13-66878921-C-T c.3580G>A p.D1194N Missense 5/5 - 1
13-66878923-T-C c.3578A>G p.N1193S Missense 5/5 - 1
13-66878924-T-A c.3577A>T p.N1193Y Missense 5/5 - 1
13-66878931-G-C c.3570C>G p.N1190K Missense 5/5 - 1
13-66878931-G-T c.3570C>A p.N1190K Missense 5/5 - 1
13-66878940-G-A c.3561C>T p.S1187= Synonymous 5/5 - 1
13-66878940-G-C c.3561C>G p.S1187R Missense 5/5 - 1
13-66878940-G-T c.3561C>A p.S1187R Missense 5/5 - 1
13-66878942-T-G c.3559A>C p.S1187R Missense 5/5 - 1
13-66878941-C-G c.3560G>C p.S1187T Missense 5/5 - 1
13-66878941-C-T c.3560G>A p.S1187N Missense 5/5 - 1
13-66878942-T-A c.3559A>T p.S1187C Missense 5/5 - 1
13-66878948-C-G c.3553G>C p.E1185Q Missense 5/5 - 1
13-66878948-C-T c.3553G>A p.E1185K Missense 5/5 - 2
13-66878952-C-A c.3549G>T p.W1183C Missense 5/5 - 1
13-66878952-C-G c.3549G>C p.W1183C Missense 5/5 - 1
13-66878952-C-T c.3549G>A p.W1183* Nonsense 5/5 - 4
13-66878956-G-A c.3545C>T p.A1182V Missense 5/5 - 1
13-66878975-C-T c.3526G>A p.G1176R Missense 5/5 - 4
13-66878979-C-A c.3522G>T p.V1174= Synonymous 5/5 - 1
13-66878979-C-T c.3522G>A p.V1174= Synonymous 5/5 - 3
13-66878980-AC-TA c.3520_3521delinsTA p.V1174* Nonsense 5/5 - 3
13-66878981-C-A c.3520G>T p.V1174L Missense 5/5 - 1
13-66878981-C-G c.3520G>C p.V1174L Missense 5/5 - 1
13-66878981-CA-C c.3519del p.V1174* Frameshift 5/5 - 1
13-66878986-T-C c.3515A>G p.K1172R Missense 5/5 - 1
13-66878987-T-C c.3514A>G p.K1172E Missense 5/5 - 1
13-66878990-C-T c.3511G>A p.D1171N Missense 5/5 - 6
13-66878991-C-T c.3510G>A p.K1170= Synonymous 5/5 - 1
13-66879005-C-A c.3496G>T p.E1166* Nonsense 5/5 - 4
13-66879012-G-A c.3489C>T p.P1163= Synonymous 5/5 - 1
13-66879012-G-C c.3489C>G p.P1163= Synonymous 5/5 - 1
13-66879012-G-T c.3489C>A p.P1163= Synonymous 5/5 - 1
13-66879013-G-T c.3488C>A p.P1163H Missense 5/5 - 1
13-66879014-G-A c.3487C>T p.P1163S Missense 5/5 - 1
13-66879019-A-C c.3482T>G p.F1161C Missense 5/5 - 1
13-66879022-G-A c.3479C>T p.T1160I Missense 5/5 - 3
13-66879022-G-T c.3479C>A p.T1160N Missense 5/5 - 1
13-66879024-TG-AT c.3476_3477delinsAT p.S1159Y Missense 5/5 - 1
13-66879029-G-T c.3472C>A p.L1158I Missense 5/5 - 1
13-66879031-G-A c.3470C>T p.P1157L Missense 5/5 - 2
13-66879032-G-T c.3469C>A p.P1157T Missense 5/5 - 1
13-66879034-G-A c.3467C>T p.S1156F Missense 5/5 - 1
13-66879034-G-T c.3467C>A p.S1156Y Missense 5/5 - 3
13-66879035-A-G c.3466T>C p.S1156P Missense 5/5 - 1
13-66879038-T-G c.3463A>C p.K1155Q Missense 5/5 - 1
13-66879042-G-C c.3459C>G p.H1153Q Missense 5/5 - 1
13-66879042-G-T c.3459C>A p.H1153Q Missense 5/5 - 2
13-66879043-T-A c.3458A>T p.H1153L Missense 5/5 - 1
13-66879044-G-A c.3457C>T p.H1153Y Missense 5/5 - 1
13-66879047-G-A c.3454C>T p.Q1152* Nonsense 5/5 - 2
13-66879047-G-T c.3454C>A p.Q1152K Missense 5/5 - 1
13-66879051-T-A c.3450A>T p.P1150= Synonymous 5/5 - 2
13-66879051-TG-AT c.3449_3450delinsAT p.P1150H Missense 5/5 - 1
13-66879052-G-A c.3449C>T p.P1150L Missense 5/5 - 1
13-66879055-C-T c.3446G>A p.G1149D Missense 5/5 - 2
13-66879056-C-T c.3445G>A p.G1149S Missense 5/5 - 1
13-66879057-C-T c.3444G>A p.L1148= Synonymous 5/5 - 1
13-66879059-A-G c.3442T>C p.L1148= Synonymous 5/5 - 2
13-66879061-C-A c.3440G>T p.G1147V Missense 5/5 - 1
13-66879062-C-A c.3439G>T p.G1147C Missense 5/5 - 1
13-66879068-G-A c.3433C>T p.P1145S Missense 5/5 - 6
13-66879075-G-A c.3426C>T p.C1142= Synonymous 5/5 - 1
13-66879077-A-G c.3424T>C p.C1142R Missense 5/5 - 2
13-66879084-AG-CC c.3416_3417delinsGG p.S1139W Missense 5/5 - 1
13-66879084-CA-C c.3417del p.D1140Ifs*29 Frameshift 5/5 - 1
13-66879085-G-C c.3416C>G p.S1139C Missense 5/5 - 1
13-66879088-T-G c.3413A>C p.H1138P Missense 5/5 - 3
13-66879093-C-A c.3408G>T p.L1136F Missense 5/5 - 2
13-66879093-C-G c.3408G>C p.L1136F Missense 5/5 - 3
13-66879095-A-C c.3406T>G p.L1136V Missense 5/5 - 1
13-66879099-C-A c.3402G>T p.L1134F Missense 5/5 - 1
13-66879105-C-A c.3396G>T p.E1132D Missense 5/5 - 2
13-66879105-C-G c.3396G>C p.E1132D Missense 5/5 - 1
13-66879110-G-C c.3391C>G p.Q1131E Missense 5/5 - 1
13-66879112-G-T c.3389C>A p.T1130N Missense 5/5 - 1
13-66879116-A-T c.3385T>A p.C1129S Missense 5/5 - 1
13-66879119-T-A c.3382A>T p.M1128L Missense 5/5 - 1
13-66879119-T-G c.3382A>C p.M1128L Missense 5/5 - 1
13-66879124-G-A c.3377C>T p.T1126I Missense 5/5 - 1
13-66879128-C-A c.3373G>T p.A1125S Missense 5/5 - 1
13-66879131-C-T c.3370G>A p.E1124K Missense 5/5 - 1
13-66879133-G-A c.3368C>T p.A1123V Missense 5/5 - 3
13-66879136-A-C c.3365T>G p.L1122* Nonsense 5/5 - 1
13-66879138-T-A c.3363A>T p.G1121= Synonymous 5/5 - 1
13-66879138-T-C c.3363A>G p.G1121= Synonymous 5/5 - 1
13-66879138-T-G c.3363A>C p.G1121= Synonymous 5/5 - 1
13-66879139-C-A c.3362G>T p.G1121V Missense 5/5 - 1
13-66879139-C-T c.3362G>A p.G1121E Missense 5/5 - 5
13-66879140-C-A c.3361G>T p.G1121* Nonsense 5/5 - 1
13-66879140-C-T c.3361G>A p.G1121R Missense 5/5 - 1
13-66879143-G-A c.3358C>T p.R1120* Nonsense 5/5 - 1
13-66879146-G-A c.3355C>T p.P1119S Missense 5/5 - 1
13-66879148-C-A c.3353G>T p.G1118V Missense 5/5 - 2
13-66879149-C-T c.3352G>A p.G1118S Missense 5/5 - 2
13-66879152-A-G c.3349T>C p.L1117= Synonymous 5/5 - 1
13-66879152-A-T c.3349T>A p.L1117M Missense 5/5 - 1
13-66879154-G-A c.3347C>T p.P1116L Missense 5/5 - 1
13-66879156-C-A c.3345G>T p.G1115= Synonymous 5/5 - 1
13-66879156-C-G c.3345G>C p.G1115= Synonymous 5/5 - 1
13-66879156-C-T c.3345G>A p.G1115= Synonymous 5/5 - 1
13-66879158-C-A c.3343G>T p.G1115W Missense 5/5 - 1
13-66879171-C-A c.3341-11G>T - IntronicSNV - 4/4 1
13-66879171-C-T c.3341-11G>A - IntronicSNV - 4/4 1
13-66881125-G-A c.3341-1965C>T - IntronicSNV - 4/4 1
13-66890310-T-C c.3341-11150A>G - IntronicSNV - 4/4 1
13-66900202-C-A c.3341-21042G>T - IntronicSNV - 4/4 1
13-66900202-C-G c.3341-21042G>C - IntronicSNV - 4/4 1
13-66908399-G-A c.3341-29239C>T - IntronicSNV - 4/4 1
13-66908399-G-C c.3341-29239C>G - IntronicSNV - 4/4 1
13-66915901-A-T c.3341-36741T>A - IntronicSNV - 4/4 1
13-66919213-A-T c.3341-40053T>A - IntronicSNV - 4/4 1
13-66921954-A-T c.3341-42794T>A - IntronicSNV - 4/4 1
13-66922705-A-G c.3341-43545T>C - IntronicSNV - 4/4 2
13-66936133-T-C c.3341-56973A>G - IntronicSNV - 4/4 1
13-66939588-T-C c.3341-60428A>G - IntronicSNV - 4/4 1
13-66939722-C-A c.3341-60562G>T - IntronicSNV - 4/4 1
13-66941792-A-G c.3341-62632T>C - IntronicSNV - 4/4 4
13-66944131-C-T c.3341-64971G>A - IntronicSNV - 4/4 1
13-66944321-A-C c.3341-65161T>G - IntronicSNV - 4/4 1
13-66946304-T-A c.3341-67144A>T - IntronicSNV - 4/4 1
13-66946304-T-C c.3341-67144A>G - IntronicSNV - 4/4 1
13-66947124-A-T c.3341-67964T>A - IntronicSNV - 4/4 2
13-66949370-C-T c.3341-70210G>A - IntronicSNV - 4/4 3
13-66951829-G-A c.3341-72669C>T - IntronicSNV - 4/4 1
13-66956841-A-C c.3341-77681T>G - IntronicSNV - 4/4 1
13-66957533-G-A c.3341-78373C>T - IntronicSNV - 4/4 1
13-66957533-G-C c.3341-78373C>G - IntronicSNV - 4/4 1
13-66960129-A-G c.3341-80969T>C - IntronicSNV - 4/4 1
13-66965411-G-A c.3341-86251C>T - IntronicSNV - 4/4 2
13-66965826-A-G c.3341-86666T>C - IntronicSNV - 4/4 2
13-66967622-A-G c.3341-88462T>C - IntronicSNV - 4/4 2
13-66971491-C-T c.3341-92331G>A - IntronicSNV - 4/4 1
13-66974706-T-C c.3341-95546A>G - IntronicSNV - 4/4 1
13-66987131-T-C c.3341-107971A>G - IntronicSNV - 4/4 2
13-66994715-C-G c.3341-115555G>C - IntronicSNV - 4/4 1
13-66994715-C-T c.3341-115555G>A - IntronicSNV - 4/4 1
13-67005642-T-A c.3341-126482A>T - IntronicSNV - 4/4 1
13-67010818-C-T c.3341-131658G>A - IntronicSNV - 4/4 3
13-67029772-C-G c.3341-150612G>C - IntronicSNV - 4/4 1
13-67029772-C-T c.3341-150612G>A - IntronicSNV - 4/4 1
13-67044153-T-C c.3340+161189A>G - IntronicSNV - 4/4 1
13-67044169-G-A c.3340+161173C>T - IntronicSNV - 4/4 1
13-67045181-T-A c.3340+160161A>T - IntronicSNV - 4/4 1
13-67045184-G-T c.3340+160158C>A - IntronicSNV - 4/4 1
13-67045268-A-G c.3340+160074T>C - IntronicSNV - 4/4 1
13-67046360-G-A c.3340+158982C>T - IntronicSNV - 4/4 1
13-67046360-G-T c.3340+158982C>A - IntronicSNV - 4/4 1
13-67054045-G-A c.3340+151297C>T - IntronicSNV - 4/4 1
13-67057390-AT-A c.3340+147951del - IntronicDeletion - 4/4 1
13-67064826-C-T c.3340+140516G>A - IntronicSNV - 4/4 1
13-67065551-A-G c.3340+139791T>C - IntronicSNV - 4/4 1
13-67068121-T-A c.3340+137221A>T - IntronicSNV - 4/4 1
13-67068121-T-C c.3340+137221A>G - IntronicSNV - 4/4 1
13-67068385-A-T c.3340+136957T>A - IntronicSNV - 4/4 1
13-67071300-G-T c.3340+134042C>A - IntronicSNV - 4/4 1
13-67071311-T-C c.3340+134031A>G - IntronicSNV - 4/4 1
13-67072153-T-C c.3340+133189A>G - IntronicSNV - 4/4 1
13-67072306-C-T c.3340+133036G>A - IntronicSNV - 4/4 1
13-67072770-A-T c.3340+132572T>A - IntronicSNV - 4/4 1
13-67073075-G-A c.3340+132267C>T - IntronicSNV - 4/4 1
13-67073577-T-C c.3340+131765A>G - IntronicSNV - 4/4 1
13-67073653-A-G c.3340+131689T>C - IntronicSNV - 4/4 1
13-67074209-C-T c.3340+131133G>A - IntronicSNV - 4/4 1
13-67074434-G-A c.3340+130908C>T - IntronicSNV - 4/4 1
13-67075247-C-T c.3340+130095G>A - IntronicSNV - 4/4 1
13-67075365-C-T c.3340+129977G>A - IntronicSNV - 4/4 1
13-67076643-TA-T c.3340+128698del - IntronicDeletion - 4/4 1
13-67076895-T-C c.3340+128447A>G - IntronicSNV - 4/4 1
13-67077040-G-A c.3340+128302C>T - IntronicSNV - 4/4 1
13-67077578-T-C c.3340+127764A>G - IntronicSNV - 4/4 1
13-67080930-G-A c.3340+124412C>T - IntronicSNV - 4/4 1
13-67080934-T-A c.3340+124408A>T - IntronicSNV - 4/4 1
13-67080944-C-T c.3340+124398G>A - IntronicSNV - 4/4 1
13-67080968-A-G c.3340+124374T>C - IntronicSNV - 4/4 1
13-67081096-T-C c.3340+124246A>G - IntronicSNV - 4/4 1
13-67081136-T-G c.3340+124206A>C - IntronicSNV - 4/4 1
13-67081205-T-G c.3340+124137A>C - IntronicSNV - 4/4 1
13-67081218-T-C c.3340+124124A>G - IntronicSNV - 4/4 1
13-67081327-A-C c.3340+124015T>G - IntronicSNV - 4/4 1
13-67087405-AT-A c.3340+117936del - IntronicDeletion - 4/4 1
13-67087646-G-T c.3340+117696C>A - IntronicSNV - 4/4 1
13-67087679-A-G c.3340+117663T>C - IntronicSNV - 4/4 1
13-67089067-A-G c.3340+116275T>C - IntronicSNV - 4/4 1
13-67091859-G-A c.3340+113483C>T - IntronicSNV - 4/4 1
13-67095139-C-G c.3340+110203G>C - IntronicSNV - 4/4 1
13-67095286-G-A c.3340+110056C>T - IntronicSNV - 4/4 1
13-67095343-A-G c.3340+109999T>C - IntronicSNV - 4/4 1
13-67095353-T-A c.3340+109989A>T - IntronicSNV - 4/4 1
13-67095387-A-T c.3340+109955T>A - IntronicSNV - 4/4 1
13-67095392-T-C c.3340+109950A>G - IntronicSNV - 4/4 1
13-67095436-C-T c.3340+109906G>A - IntronicSNV - 4/4 1
13-67095497-T-C c.3340+109845A>G - IntronicSNV - 4/4 1
13-67095501-T-C c.3340+109841A>G - IntronicSNV - 4/4 1
13-67096139-CA-C c.3340+109202del - IntronicDeletion - 4/4 1
13-67099975-C-T c.3340+105367G>A - IntronicSNV - 4/4 1
13-67100443-C-T c.3340+104899G>A - IntronicSNV - 4/4 1
13-67104040-GA-G c.3340+101301del - IntronicDeletion - 4/4 1
13-67104862-TA-T c.3340+100479del - IntronicDeletion - 4/4 1
13-67106300-T-G c.3340+99042A>C - IntronicSNV - 4/4 1
13-67109120-C-A c.3340+96222G>T - IntronicSNV - 4/4 1
13-67109815-A-C c.3340+95527T>G - IntronicSNV - 4/4 1
13-67110127-G-T c.3340+95215C>A - IntronicSNV - 4/4 1
13-67110803-G-C c.3340+94539C>G - IntronicSNV - 4/4 1
13-67112330-G-A c.3340+93012C>T - IntronicSNV - 4/4 1
13-67120306-A-T c.3340+85036T>A - IntronicSNV - 4/4 1
13-67130436-C-T c.3340+74906G>A - IntronicSNV - 4/4 1
13-67131386-A-C c.3340+73956T>G - IntronicSNV - 4/4 1
13-67133021-G-A c.3340+72321C>T - IntronicSNV - 4/4 1
13-67135539-A-G c.3340+69803T>C - IntronicSNV - 4/4 1
13-67135539-A-T c.3340+69803T>A - IntronicSNV - 4/4 1
13-67137423-C-T c.3340+67919G>A - IntronicSNV - 4/4 1
13-67138304-AT-A c.3340+67037del - IntronicDeletion - 4/4 1
13-67140459-C-T c.3340+64883G>A - IntronicSNV - 4/4 1
13-67143387-T-C c.3340+61955A>G - IntronicSNV - 4/4 1
13-67143454-G-A c.3340+61888C>T - IntronicSNV - 4/4 1
13-67145654-T-C c.3340+59688A>G - IntronicSNV - 4/4 1
13-67145653-CT-C c.3340+59688del - IntronicDeletion - 4/4 1
13-67148919-G-T c.3340+56423C>A - IntronicSNV - 4/4 1
13-67149305-CA-C c.3340+56036del - IntronicDeletion - 4/4 1
13-67151182-T-C c.3340+54160A>G - IntronicSNV - 4/4 1
13-67152075-G-A c.3340+53267C>T - IntronicSNV - 4/4 1
13-67152075-G-C c.3340+53267C>G - IntronicSNV - 4/4 1
13-67152512-T-A c.3340+52830A>T - IntronicSNV - 4/4 1
13-67152511-AT-A c.3340+52830del - IntronicDeletion - 4/4 1
13-67153963-G-A c.3340+51379C>T - IntronicSNV - 4/4 1
13-67162467-A-C c.3340+42875T>G - IntronicSNV - 4/4 1
13-67162518-A-G c.3340+42824T>C - IntronicSNV - 4/4 1
13-67162520-C-T c.3340+42822G>A - IntronicSNV - 4/4 1
13-67162523-T-C c.3340+42819A>G - IntronicSNV - 4/4 1
13-67165650-C-G c.3340+39692G>C - IntronicSNV - 4/4 1
13-67168094-G-GT c.3340+37247dup - IntronicInsertion - 4/4 1
13-67168184-C-A c.3340+37158G>T - IntronicSNV - 4/4 1
13-67173215-T-A c.3340+32127A>T - IntronicSNV - 4/4 1
13-67174182-C-G c.3340+31160G>C - IntronicSNV - 4/4 1
13-67180045-T-C c.3340+25297A>G - IntronicSNV - 4/4 1
13-67186958-CT-C c.3340+18383del - IntronicDeletion - 4/4 1
13-67187781-G-T c.3340+17561C>A - IntronicSNV - 4/4 1
13-67188196-C-CAATT c.3340+17145_3340+17146insAATT - IntronicInsertion - 4/4 1
13-67189109-C-A c.3340+16233G>T - IntronicSNV - 4/4 1
13-67189236-C-T c.3340+16106G>A - IntronicSNV - 4/4 1
13-67191043-G-A c.3340+14299C>T - IntronicSNV - 4/4 1
13-67191857-T-G c.3340+13485A>C - IntronicSNV - 4/4 2
13-67191869-C-A c.3340+13473G>T - IntronicSNV - 4/4 2
13-67191869-C-G c.3340+13473G>C - IntronicSNV - 4/4 2
13-67194827-CT-C c.3340+10514del - IntronicDeletion - 4/4 1
13-67196201-G-T c.3340+9141C>A - IntronicSNV - 4/4 1
13-67196927-G-C c.3340+8415C>G - IntronicSNV - 4/4 1
13-67198443-C-T c.3340+6899G>A - IntronicSNV - 4/4 1
13-67201959-G-T c.3340+3383C>A - IntronicSNV - 4/4 1
13-67202857-G-C c.3340+2485C>G - IntronicSNV - 4/4 1
13-67203374-C-A c.3340+1968G>T - IntronicSNV - 4/4 1
13-67204131-C-T c.3340+1211G>A - IntronicSNV - 4/4 1
13-67204316-C-A c.3340+1026G>T - IntronicSNV - 4/4 1
13-67205239-T-C c.3340+103A>G - IntronicSNV - 4/4 1
13-67205272-T-C c.3340+70A>G - IntronicSNV - 4/4 1
13-67205277-G-C c.3340+65C>G - IntronicSNV - 4/4 1
13-67205337-C-T c.3340+5G>A - IntronicSNV - 4/4 1
13-67205341-C-G c.3340+1G>C - IntronicSNV - 4/4 1
13-67205343-A-C c.3339T>G p.S1113= Synonymous 4/5 - 1
13-67205343-A-G c.3339T>C p.S1113= Synonymous 4/5 - 1
13-67205343-A-T c.3339T>A p.S1113= Synonymous 4/5 - 1
13-67205346-GT-G c.3335del p.N1112Tfs*11 Frameshift 4/5 - 1
13-67205348-T-C c.3334A>G p.N1112D Missense 4/5 - 2
13-67205351-G-T c.3331C>A p.P1111T Missense 4/5 - 3
13-67205358-G-C c.3324C>G p.N1108K Missense 4/5 - 4
13-67205358-G-T c.3324C>A p.N1108K Missense 4/5 - 6
13-67205362-C-A c.3320G>T p.G1107V Missense 4/5 - 1
13-67205362-C-T c.3320G>A p.G1107D Missense 4/5 - 2
13-67205364-A-G c.3318T>C p.D1106= Synonymous 4/5 - 2
13-67205366-C-A c.3316G>T p.D1106Y Missense 4/5 - 2
13-67205366-C-T c.3316G>A p.D1106N Missense 4/5 - 1
13-67205371-T-G c.3311A>C p.E1104A Missense 4/5 - 1
13-67205372-C-G c.3310G>C p.E1104Q Missense 4/5 - 1
13-67205372-C-T c.3310G>A p.E1104K Missense 4/5 - 1
13-67205373-A-C c.3309T>G p.T1103= Synonymous 4/5 - 1
13-67205374-G-A c.3308C>T p.T1103I Missense 4/5 - 1
13-67205374-G-T c.3308C>A p.T1103N Missense 4/5 - 1
13-67205376-C-T c.3306G>A p.R1102= Synonymous 4/5 - 1
13-67205378-T-G c.3304A>C p.R1102= Synonymous 4/5 - 1
13-67205377-C-A c.3305G>T p.R1102M Missense 4/5 - 3
13-67205379-C-T c.3303G>A p.K1101= Synonymous 4/5 - 2
13-67205380-T-C c.3302A>G p.K1101R Missense 4/5 - 4
13-67205382-G-T c.3300C>A p.D1100E Missense 4/5 - 1
13-67205385-C-A c.3297G>T p.P1099= Synonymous 4/5 - 1
13-67205385-C-G c.3297G>C p.P1099= Synonymous 4/5 - 1
13-67205385-C-T c.3297G>A p.P1099= Synonymous 4/5 - 3
13-67205386-G-A c.3296C>T p.P1099L Missense 4/5 - 1
13-67205387-G-C c.3295C>G p.P1099A Missense 4/5 - 1
13-67205388-A-G c.3294T>C p.S1098= Synonymous 4/5 - 1
13-67205389-G-A c.3293C>T p.S1098F Missense 4/5 - 3
13-67205389-G-T c.3293C>A p.S1098Y Missense 4/5 - 1
13-67205393-C-A c.3289G>T p.A1097S Missense 4/5 - 1
13-67205393-C-T c.3289G>A p.A1097T Missense 4/5 - 1
13-67205395-T-C c.3287A>G p.Q1096R Missense 4/5 - 1
13-67205396-G-A c.3286C>T p.Q1096* Nonsense 4/5 - 1
13-67205398-T-C c.3284A>G p.D1095G Missense 4/5 - 1
13-67205401-T-C c.3281A>G p.Y1094C Missense 4/5 - 1
13-67205403-G-C c.3279C>G p.F1093L Missense 4/5 - 2
13-67205404-A-C c.3278T>G p.F1093C Missense 4/5 - 1
13-67205403-G-T c.3279C>A p.F1093L Missense 4/5 - 1
13-67205405-A-G c.3277T>C p.F1093L Missense 4/5 - 1
13-67205408-C-T c.3274G>A p.E1092K Missense 4/5 - 13
13-67205409-G-A c.3273C>T p.D1091= Synonymous 4/5 - 3
13-67205409-G-T c.3273C>A p.D1091E Missense 4/5 - 1
13-67205411-C-A c.3271G>T p.D1091Y Missense 4/5 - 1
13-67205411-C-T c.3271G>A p.D1091N Missense 4/5 - 3
13-67205423-C-T c.3259G>A p.V1087I Missense 4/5 - 1
13-67205427-A-C c.3255T>G p.P1085= Synonymous 4/5 - 1
13-67205427-A-G c.3255T>C p.P1085= Synonymous 4/5 - 1
13-67205427-A-T c.3255T>A p.P1085= Synonymous 4/5 - 1
13-67205428-G-A c.3254C>T p.P1085L Missense 4/5 - 8
13-67205428-G-T c.3254C>A p.P1085H Missense 4/5 - 1
13-67205429-G-A c.3253C>T p.P1085S Missense 4/5 - 3
13-67205431-A-G c.3251T>C p.L1084P Missense 4/5 - 2
13-67205434-G-C c.3248C>G p.P1083R Missense 4/5 - 1
13-67205435-G-A c.3247C>T p.P1083S Missense 4/5 - 1
13-67205436-G-A c.3246C>T p.H1082= Synonymous 4/5 - 2
13-67205440-G-A c.3242C>T p.S1081L Missense 4/5 - 1
13-67205441-A-G c.3241T>C p.S1081P Missense 4/5 - 1
13-67205442-G-T c.3240C>A p.I1080= Synonymous 4/5 - 2
13-67205447-G-A c.3235C>T p.L1079= Synonymous 4/5 - 1
13-67205449-G-T c.3233C>A p.T1078N Missense 4/5 - 1
13-67205450-T-C c.3232A>G p.T1078A Missense 4/5 - 1
13-67205452-C-T c.3230G>A p.G1077E Missense 4/5 - 5
13-67205453-C-A c.3229G>T p.G1077* Nonsense 4/5 - 1
13-67205458-C-T c.3224G>A p.G1075D Missense 4/5 - 6
13-67205459-C-A c.3223G>T p.G1075C Missense 4/5 - 1
13-67205461-A-T c.3221T>A p.V1074E Missense 4/5 - 3
13-67205463-C-A c.3219G>T p.P1073= Synonymous 4/5 - 1
13-67205463-C-T c.3219G>A p.P1073= Synonymous 4/5 - 2
13-67205464-G-A c.3218C>T p.P1073L Missense 4/5 - 7
13-67205467-T-C c.3215A>G p.E1072G Missense 4/5 - 1
13-67205470-T-A c.3212A>T p.H1071L Missense 4/5 - 1
13-67205471-G-A c.3211C>T p.H1071Y Missense 4/5 - 1
13-67205471-G-T c.3211C>A p.H1071N Missense 4/5 - 1
13-67205472-G-C c.3210C>G p.D1070E Missense 4/5 - 1
13-67205472-G-T c.3210C>A p.D1070E Missense 4/5 - 2
13-67205475-T-A c.3207A>T p.G1069= Synonymous 4/5 - 1
13-67205475-T-C c.3207A>G p.G1069= Synonymous 4/5 - 1
13-67205475-T-G c.3207A>C p.G1069= Synonymous 4/5 - 1
13-67205476-C-T c.3206G>A p.G1069E Missense 4/5 - 1
13-67205477-C-A c.3205G>T p.G1069* Nonsense 4/5 - 1
13-67205483-C-A c.3199G>T p.G1067C Missense 4/5 - 1
13-67205483-C-T c.3199G>A p.G1067S Missense 4/5 - 6
13-67205487-G-T c.3195C>A p.D1065E Missense 4/5 - 1
13-67205489-C-T c.3193G>A p.D1065N Missense 4/5 - 1
13-67205491-C-T c.3191G>A p.S1064N Missense 4/5 - 1
13-67205491-CT-TA c.3190_3191delinsTA p.S1064Y Missense 4/5 - 1
13-67205494-C-T c.3188G>A p.C1063Y Missense 4/5 - 1
13-67205496-G-A c.3186C>T p.S1062= Synonymous 4/5 - 1
13-67205497-C-T c.3185G>A p.S1062N Missense 4/5 - 1
13-67205501-C-T c.3181G>A p.E1061K Missense 4/5 - 3
13-67205505-G-A c.3177C>T p.S1059= Synonymous 4/5 - 1
13-67205506-G-A c.3176C>T p.S1059F Missense 4/5 - 2
13-67205515-G-A c.3167C>T p.P1056L Missense 4/5 - 1
13-67205515-G-T c.3167C>A p.P1056H Missense 4/5 - 1
13-67205516-G-T c.3166C>A p.P1056T Missense 4/5 - 3
13-67205518-A-C c.3164T>G p.L1055R Missense 4/5 - 1
13-67205519-G-A c.3163C>T p.L1055F Missense 4/5 - 3
13-67205520-A-G c.3162T>C p.H1054= Synonymous 4/5 - 6
13-67205524-A-C c.3158T>G p.F1053C Missense 4/5 - 2
13-67205527-G-A c.3155C>T p.T1052M Missense 4/5 - 3
13-67205529-A-C c.3153T>G p.V1051= Synonymous 4/5 - 2
13-67205529-A-G c.3153T>C p.V1051= Synonymous 4/5 - 2
13-67205529-A-T c.3153T>A p.V1051= Synonymous 4/5 - 3
13-67205531-C-A c.3151G>T p.V1051F Missense 4/5 - 3
13-67205533-C-T c.3149G>A p.R1050H Missense 4/5 - 3
13-67205534-G-A c.3148C>T p.R1050C Missense 4/5 - 4
13-67205534-G-T c.3148C>A p.R1050S Missense 4/5 - 1
13-67205535-GCG-CTT c.3145_3147delinsAAG p.R1049K Missense 4/5 - 1
13-67205537-G-A c.3145C>T p.R1049C Missense 4/5 - 8
13-67205539-T-C c.3143A>G p.Q1048R Missense 4/5 - 2
13-67205540-G-T c.3142C>A p.Q1048K Missense 4/5 - 3
13-67205541-C-A c.3141G>T p.S1047= Synonymous 4/5 - 2
13-67205541-C-G c.3141G>C p.S1047= Synonymous 4/5 - 2
13-67205541-C-T c.3141G>A p.S1047= Synonymous 4/5 - 4
13-67205542-G-A c.3140C>T p.S1047L Missense 4/5 - 2
13-67205559-C-G c.3139-16G>C - IntronicSNV - 3/4 1
13-67205559-C-T c.3139-16G>A - IntronicSNV - 3/4 1
13-67209844-G-T c.3139-4301C>A - IntronicSNV - 3/4 1
13-67212557-T-G c.3139-7014A>C - IntronicSNV - 3/4 1
13-67226715-T-A c.3139-21172A>T - IntronicSNV - 3/4 1
13-67226715-T-C c.3139-21172A>G - IntronicSNV - 3/4 1
13-67226971-A-G c.3139-21428T>C - IntronicSNV - 3/4 1
13-67230159-A-G c.3139-24616T>C - IntronicSNV - 3/4 1
13-67238760-C-A c.3139-33217G>T - IntronicSNV - 3/4 2
13-67240678-A-G c.3139-35135T>C - IntronicSNV - 3/4 1
13-67240678-A-T c.3139-35135T>A - IntronicSNV - 3/4 1
13-67259505-C-T c.3139-53962G>A - IntronicSNV - 3/4 1
13-67261357-A-G c.3139-55814T>C - IntronicSNV - 3/4 1
13-67282535-G-T c.3139-76992C>A - IntronicSNV - 3/4 1
13-67296412-A-G c.3139-90869T>C - IntronicSNV - 3/4 1
13-67318849-G-A c.3139-113306C>T - IntronicSNV - 3/4 1
13-67326194-G-C c.3139-120651C>G - IntronicSNV - 3/4 1
13-67331062-G-A c.3139-125519C>T - IntronicSNV - 3/4 1
13-67331062-G-T c.3139-125519C>A - IntronicSNV - 3/4 1
13-67331341-A-G c.3139-125798T>C - IntronicSNV - 3/4 1
13-67332812-C-G c.3139-127269G>C - IntronicSNV - 3/4 1
13-67332812-C-T c.3139-127269G>A - IntronicSNV - 3/4 1
13-67336339-T-G c.3139-130796A>C - IntronicSNV - 3/4 1
13-67341737-A-T c.3138+135899T>A - IntronicSNV - 3/4 1
13-67343266-T-A c.3138+134370A>T - IntronicSNV - 3/4 1
13-67343266-T-C c.3138+134370A>G - IntronicSNV - 3/4 1
13-67344544-T-C c.3138+133092A>G - IntronicSNV - 3/4 1
13-67344644-C-T c.3138+132992G>A - IntronicSNV - 3/4 1
13-67349910-TG-T c.3138+127725del - IntronicDeletion - 3/4 1
13-67353979-C-A c.3138+123657G>T - IntronicSNV - 3/4 1
13-67355900-G-A c.3138+121736C>T - IntronicSNV - 3/4 1
13-67359348-G-C c.3138+118288C>G - IntronicSNV - 3/4 1
13-67365777-A-G c.3138+111859T>C - IntronicSNV - 3/4 1
13-67366600-G-T c.3138+111036C>A - IntronicSNV - 3/4 1
13-67368259-CAAGA-C c.3138+109373_3138+109376del - IntronicDeletion - 3/4 1
13-67370250-T-A c.3138+107386A>T - IntronicSNV - 3/4 1
13-67372227-C-A c.3138+105409G>T - IntronicSNV - 3/4 1
13-67375527-C-A c.3138+102109G>T - IntronicSNV - 3/4 1
13-67375527-C-T c.3138+102109G>A - IntronicSNV - 3/4 1
13-67380168-G-A c.3138+97468C>T - IntronicSNV - 3/4 1
13-67382924-G-T c.3138+94712C>A - IntronicSNV - 3/4 1
13-67383433-C-A c.3138+94203G>T - IntronicSNV - 3/4 1
13-67385568-G-A c.3138+92068C>T - IntronicSNV - 3/4 1
13-67386932-C-A c.3138+90704G>T - IntronicSNV - 3/4 1
13-67386932-C-T c.3138+90704G>A - IntronicSNV - 3/4 1
13-67390988-GT-G c.3138+86647del - IntronicDeletion - 3/4 1
13-67391965-G-T c.3138+85671C>A - IntronicSNV - 3/4 1
13-67392298-A-G c.3138+85338T>C - IntronicSNV - 3/4 1
13-67392298-A-T c.3138+85338T>A - IntronicSNV - 3/4 1
13-67397981-G-A c.3138+79655C>T - IntronicSNV - 3/4 1
13-67399320-A-T c.3138+78316T>A - IntronicSNV - 3/4 1
13-67401917-C-T c.3138+75719G>A - IntronicSNV - 3/4 1
13-67402983-TA-T c.3138+74652del - IntronicDeletion - 3/4 1
13-67403103-G-C c.3138+74533C>G - IntronicSNV - 3/4 1
13-67403879-T-A c.3138+73757A>T - IntronicSNV - 3/4 1
13-67408612-C-T c.3138+69024G>A - IntronicSNV - 3/4 1
13-67409625-A-C c.3138+68011T>G - IntronicSNV - 3/4 1
13-67415050-G-A c.3138+62586C>T - IntronicSNV - 3/4 1
13-67415082-G-A c.3138+62554C>T - IntronicSNV - 3/4 1
13-67418415-C-T c.3138+59221G>A - IntronicSNV - 3/4 1
13-67420257-GA-G c.3138+57378del - IntronicDeletion - 3/4 1
13-67420460-C-T c.3138+57176G>A - IntronicSNV - 3/4 1
13-67425521-CA-C c.3138+52114del - IntronicDeletion - 3/4 1
13-67434863-T-C c.3138+42773A>G - IntronicSNV - 3/4 1
13-67434878-T-A c.3138+42758A>T - IntronicSNV - 3/4 1
13-67434967-C-G c.3138+42669G>C - IntronicSNV - 3/4 1
13-67435174-A-G c.3138+42462T>C - IntronicSNV - 3/4 1
13-67441957-CT-C c.3138+35678del - IntronicDeletion - 3/4 1
13-67442669-GA-G c.3138+34966del - IntronicDeletion - 3/4 1
13-67449706-A-G c.3138+27930T>C - IntronicSNV - 3/4 1
13-67449723-A-G c.3138+27913T>C - IntronicSNV - 3/4 1
13-67449729-T-A c.3138+27907A>T - IntronicSNV - 3/4 1
13-67449755-C-G c.3138+27881G>C - IntronicSNV - 3/4 1
13-67449757-A-G c.3138+27879T>C - IntronicSNV - 3/4 1
13-67449764-A-G c.3138+27872T>C - IntronicSNV - 3/4 1
13-67451823-G-A c.3138+25813C>T - IntronicSNV - 3/4 1
13-67453820-CA-C c.3138+23815del - IntronicDeletion - 3/4 1
13-67460091-C-A c.3138+17545G>T - IntronicSNV - 3/4 1
13-67461567-A-G c.3138+16069T>C - IntronicSNV - 3/4 1
13-67465207-GT-G c.3138+12428del - IntronicDeletion - 3/4 1
13-67465843-T-TA c.3138+11792dup - IntronicInsertion - 3/4 1
13-67469893-G-A c.3138+7743C>T - IntronicSNV - 3/4 1
13-67472665-C-T c.3138+4971G>A - IntronicSNV - 3/4 1
13-67474630-G-C c.3138+3006C>G - IntronicSNV - 3/4 1
13-67475035-C-T c.3138+2601G>A - IntronicSNV - 3/4 1
13-67475245-T-TA c.3138+2390dup - IntronicInsertion - 3/4 1
13-67477570-T-A c.3138+66A>T - IntronicSNV - 3/4 1
13-67477643-T-A c.3131A>T p.H1044L Missense 3/5 - 1
13-67477651-T-A c.3123A>T p.E1041D Missense 3/5 - 1
13-67477651-T-G c.3123A>C p.E1041D Missense 3/5 - 3
13-67477653-C-T c.3121G>A p.E1041K Missense 3/5 - 2
13-67477654-A-C c.3120T>G p.N1040K Missense 3/5 - 1
13-67477654-A-T c.3120T>A p.N1040K Missense 3/5 - 1
13-67477657-C-A c.3117G>T p.E1039D Missense 3/5 - 2
13-67477657-C-G c.3117G>C p.E1039D Missense 3/5 - 1
13-67477657-C-T c.3117G>A p.E1039= Synonymous 3/5 - 1
13-67477660-C-A c.3114G>T p.Q1038H Missense 3/5 - 1
13-67477660-C-G c.3114G>C p.Q1038H Missense 3/5 - 1
13-67477660-C-T c.3114G>A p.Q1038= Synonymous 3/5 - 2
13-67477663-A-C c.3111T>G p.I1037M Missense 3/5 - 1
13-67477666-G-C c.3108C>G p.H1036Q Missense 3/5 - 1
13-67477666-G-T c.3108C>A p.H1036Q Missense 3/5 - 1
13-67477668-G-T c.3106C>A p.H1036N Missense 3/5 - 2
13-67477670-A-G c.3104T>C p.F1035S Missense 3/5 - 1
13-67477675-C-T c.3099G>A p.T1033= Synonymous 3/5 - 2
13-67477676-G-A c.3098C>T p.T1033M Missense 3/5 - 3
13-67477679-G-C c.3095C>G p.S1032C Missense 3/5 - 1
13-67477685-G-A c.3089C>T p.P1030L Missense 3/5 - 5
13-67477686-G-A c.3088C>T p.P1030S Missense 3/5 - 1
13-67477693-C-A c.3081G>T p.Q1027H Missense 3/5 - 1
13-67477695-G-A c.3079C>T p.Q1027* Nonsense 3/5 - 1
13-67477700-G-T c.3074C>A p.T1025N Missense 3/5 - 1
13-67477704-C-T c.3070G>A p.V1024I Missense 3/5 - 1
13-67477705-A-C c.3069T>G p.P1023= Synonymous 3/5 - 1
13-67477705-A-G c.3069T>C p.P1023= Synonymous 3/5 - 2
13-67477705-A-T c.3069T>A p.P1023= Synonymous 3/5 - 1
13-67477706-G-A c.3068C>T p.P1023L Missense 3/5 - 2
13-67477707-G-A c.3067C>T p.P1023S Missense 3/5 - 4
13-67477709-A-G c.3065T>C p.I1022T Missense 3/5 - 1
13-67477713-T-C c.3061A>G p.N1021D Missense 3/5 - 1
13-67477714-G-C c.3060C>G p.D1020E Missense 3/5 - 1
13-67477714-G-T c.3060C>A p.D1020E Missense 3/5 - 1
13-67477719-T-TA c.3054_3055insT p.S1019* Nonsense 3/5 - 1
13-67477721-T-G c.3053A>C p.K1018T Missense 3/5 - 3
13-67477723-G-A c.3051C>T p.S1017= Synonymous 3/5 - 1
13-67477723-G-C c.3051C>G p.S1017R Missense 3/5 - 3
13-67477723-G-T c.3051C>A p.S1017R Missense 3/5 - 5
13-67477725-T-G c.3049A>C p.S1017R Missense 3/5 - 3
13-67477724-C-G c.3050G>C p.S1017T Missense 3/5 - 1
13-67477724-C-T c.3050G>A p.S1017N Missense 3/5 - 1
13-67477727-T-C c.3047A>G p.H1016R Missense 3/5 - 1
13-67477728-G-A c.3046C>T p.H1016Y Missense 3/5 - 1
13-67477733-T-C c.3041A>G p.N1014S Missense 3/5 - 5
13-67477735-A-G c.3039T>C p.C1013= Synonymous 3/5 - 2
13-67498549-G-A c.3037-20812C>T - IntronicSNV - 2/4 1
13-67499094-G-A c.3037-21357C>T - IntronicSNV - 2/4 1
13-67502603-A-G c.3037-24866T>C - IntronicSNV - 2/4 1
13-67503594-T-A c.3037-25857A>T - IntronicSNV - 2/4 1
13-67506815-C-T c.3037-29078G>A - IntronicSNV - 2/4 1
13-67511430-G-A c.3037-33693C>T - IntronicSNV - 2/4 1
13-67525584-G-A c.3037-47847C>T - IntronicSNV - 2/4 1
13-67525585-C-T c.3037-47848G>A - IntronicSNV - 2/4 1
13-67527244-T-A c.3037-49507A>T - IntronicSNV - 2/4 1
13-67527244-T-C c.3037-49507A>G - IntronicSNV - 2/4 1
13-67536107-C-T c.3037-58370G>A - IntronicSNV - 2/4 1
13-67537493-C-A c.3037-59756G>T - IntronicSNV - 2/4 1
13-67537493-C-T c.3037-59756G>A - IntronicSNV - 2/4 1
13-67550996-C-T c.3037-73259G>A - IntronicSNV - 2/4 1
13-67559712-T-C c.3037-81975A>G - IntronicSNV - 2/4 1
13-67559712-T-G c.3037-81975A>C - IntronicSNV - 2/4 1
13-67559729-C-T c.3037-81992G>A - IntronicSNV - 2/4 1
13-67560612-T-C c.3037-82875A>G - IntronicSNV - 2/4 1
13-67564191-G-GA c.3037-86455dup - IntronicInsertion - 2/4 1
13-67587970-G-A c.3037-110233C>T - IntronicSNV - 2/4 1
13-67621779-G-A c.3037-144042C>T - IntronicSNV - 2/4 1
13-67624447-A-G c.3037-146710T>C - IntronicSNV - 2/4 1
13-67630845-G-A c.3037-153108C>T - IntronicSNV - 2/4 1
13-67636769-G-T c.3037-159032C>A - IntronicSNV - 2/4 1
13-67638641-C-A c.3036+160896G>T - IntronicSNV - 2/4 1
13-67638685-G-A c.3036+160852C>T - IntronicSNV - 2/4 1
13-67638752-G-A c.3036+160785C>T - IntronicSNV - 2/4 1
13-67638753-A-G c.3036+160784T>C - IntronicSNV - 2/4 1
13-67638771-A-T c.3036+160766T>A - IntronicSNV - 2/4 1
13-67640645-A-C c.3036+158892T>G - IntronicSNV - 2/4 1
13-67640645-A-T c.3036+158892T>A - IntronicSNV - 2/4 1
13-67641081-A-G c.3036+158456T>C - IntronicSNV - 2/4 1
13-67641751-T-A c.3036+157786A>T - IntronicSNV - 2/4 1
13-67641751-T-C c.3036+157786A>G - IntronicSNV - 2/4 1
13-67641911-TG-T c.3036+157625del - IntronicDeletion - 2/4 1
13-67646563-C-T c.3036+152974G>A - IntronicSNV - 2/4 1
13-67649872-C-T c.3036+149665G>A - IntronicSNV - 2/4 1
13-67651884-A-C c.3036+147653T>G - IntronicSNV - 2/4 1
13-67652978-C-G c.3036+146559G>C - IntronicSNV - 2/4 1
13-67662116-C-T c.3036+137421G>A - IntronicSNV - 2/4 1
13-67664717-G-GA c.3036+134819dup - IntronicInsertion - 2/4 1
13-67664814-G-GA c.3036+134722dup - IntronicInsertion - 2/4 1
13-67667093-GA-G c.3036+132443del - IntronicDeletion - 2/4 1
13-67667980-C-A c.3036+131557G>T - IntronicSNV - 2/4 1
13-67668171-TA-T c.3036+131365del - IntronicDeletion - 2/4 1
13-67673039-G-C c.3036+126498C>G - IntronicSNV - 2/4 1
13-67674147-G-A c.3036+125390C>T - IntronicSNV - 2/4 1
13-67676040-T-C c.3036+123497A>G - IntronicSNV - 2/4 1
13-67679699-G-GA c.3036+119837dup - IntronicInsertion - 2/4 1
13-67682628-T-C c.3036+116909A>G - IntronicSNV - 2/4 1
13-67684668-G-A c.3036+114869C>T - IntronicSNV - 2/4 1
13-67685156-T-C c.3036+114381A>G - IntronicSNV - 2/4 1
13-67689841-C-T c.3036+109696G>A - IntronicSNV - 2/4 1
13-67691355-C-T c.3036+108182G>A - IntronicSNV - 2/4 1
13-67691464-A-G c.3036+108073T>C - IntronicSNV - 2/4 1
13-67693102-G-A c.3036+106435C>T - IntronicSNV - 2/4 1
13-67693182-T-C c.3036+106355A>G - IntronicSNV - 2/4 2
13-67693462-T-C c.3036+106075A>G - IntronicSNV - 2/4 1
13-67694714-C-T c.3036+104823G>A - IntronicSNV - 2/4 1
13-67696028-T-A c.3036+103509A>T - IntronicSNV - 2/4 1
13-67696145-G-A c.3036+103392C>T - IntronicSNV - 2/4 2
13-67696145-G-C c.3036+103392C>G - IntronicSNV - 2/4 2
13-67699958-T-C c.3036+99579A>G - IntronicSNV - 2/4 1
13-67701341-T-C c.3036+98196A>G - IntronicSNV - 2/4 1
13-67702762-T-C c.3036+96775A>G - IntronicSNV - 2/4 1
13-67702974-C-T c.3036+96563G>A - IntronicSNV - 2/4 1
13-67705738-C-T c.3036+93799G>A - IntronicSNV - 2/4 1
13-67706142-A-G c.3036+93395T>C - IntronicSNV - 2/4 1
13-67709712-A-T c.3036+89825T>A - IntronicSNV - 2/4 1
13-67710941-T-C c.3036+88596A>G - IntronicSNV - 2/4 1
13-67711667-T-C c.3036+87870A>G - IntronicSNV - 2/4 1
13-67713535-T-A c.3036+86002A>T - IntronicSNV - 2/4 1
13-67713538-C-T c.3036+85999G>A - IntronicSNV - 2/4 1
13-67713570-T-G c.3036+85967A>C - IntronicSNV - 2/4 1
13-67713576-T-C c.3036+85961A>G - IntronicSNV - 2/4 1
13-67713633-C-T c.3036+85904G>A - IntronicSNV - 2/4 1
13-67713770-T-G c.3036+85767A>C - IntronicSNV - 2/4 1
13-67713902-C-T c.3036+85635G>A - IntronicSNV - 2/4 1
13-67713909-T-G c.3036+85628A>C - IntronicSNV - 2/4 1
13-67714231-G-T c.3036+85306C>A - IntronicSNV - 2/4 1
13-67717140-C-CA c.3036+82396dup - IntronicInsertion - 2/4 1
13-67717140-C-CAAAAAAAAAGAAAGAAAAAAT c.3036+82396_3036+82397insATTTTTTCTTTCTTTTTTTTT - IntronicInsertion - 2/4 1
13-67720244-T-C c.3036+79293A>G - IntronicSNV - 2/4 1
13-67720253-T-A c.3036+79284A>T - IntronicSNV - 2/4 1
13-67720260-A-G c.3036+79277T>C - IntronicSNV - 2/4 1
13-67722205-A-G c.3036+77332T>C - IntronicSNV - 2/4 2
13-67722231-A-C c.3036+77306T>G - IntronicSNV - 2/4 1
13-67722255-A-C c.3036+77282T>G - IntronicSNV - 2/4 1
13-67722267-T-G c.3036+77270A>C - IntronicSNV - 2/4 1
13-67722551-T-A c.3036+76986A>T - IntronicSNV - 2/4 1
13-67722553-A-C c.3036+76984T>G - IntronicSNV - 2/4 1
13-67722723-T-A c.3036+76814A>T - IntronicSNV - 2/4 1
13-67725216-A-C c.3036+74321T>G - IntronicSNV - 2/4 1
13-67725964-C-G c.3036+73573G>C - IntronicSNV - 2/4 1
13-67727316-T-C c.3036+72221A>G - IntronicSNV - 2/4 1
13-67728723-A-T c.3036+70814T>A - IntronicSNV - 2/4 1
13-67734521-CA-C c.3036+65015del - IntronicDeletion - 2/4 1
13-67735867-C-G c.3036+63670G>C - IntronicSNV - 2/4 1
13-67736171-T-C c.3036+63366A>G - IntronicSNV - 2/4 1
13-67736823-C-T c.3036+62714G>A - IntronicSNV - 2/4 1
13-67740920-G-A c.3036+58617C>T - IntronicSNV - 2/4 1
13-67745164-G-T c.3036+54373C>A - IntronicSNV - 2/4 1
13-67745198-G-A c.3036+54339C>T - IntronicSNV - 2/4 1
13-67748520-C-T c.3036+51017G>A - IntronicSNV - 2/4 1
13-67751568-C-G c.3036+47969G>C - IntronicSNV - 2/4 1
13-67753902-AGG-A c.3036+45634_3036+45635del - IntronicDeletion - 2/4 1
13-67754755-A-T c.3036+44782T>A - IntronicSNV - 2/4 1
13-67754758-C-A c.3036+44779G>T - IntronicSNV - 2/4 1
13-67754760-A-T c.3036+44777T>A - IntronicSNV - 2/4 1
13-67754887-G-A c.3036+44650C>T - IntronicSNV - 2/4 1
13-67754946-T-G c.3036+44591A>C - IntronicSNV - 2/4 1
13-67755007-T-C c.3036+44530A>G - IntronicSNV - 2/4 1
13-67755007-T-G c.3036+44530A>C - IntronicSNV - 2/4 1
13-67757700-T-C c.3036+41837A>G - IntronicSNV - 2/4 1
13-67759216-T-C c.3036+40321A>G - IntronicSNV - 2/4 1
13-67759535-A-G c.3036+40002T>C - IntronicSNV - 2/4 1
13-67762356-C-T c.3036+37181G>A - IntronicSNV - 2/4 1
13-67764168-C-T c.3036+35369G>A - IntronicSNV - 2/4 1
13-67775200-A-G c.3036+24337T>C - IntronicSNV - 2/4 1
13-67775234-T-G c.3036+24303A>C - IntronicSNV - 2/4 1
13-67775281-G-T c.3036+24256C>A - IntronicSNV - 2/4 1
13-67775288-G-A c.3036+24249C>T - IntronicSNV - 2/4 1
13-67775309-T-A c.3036+24228A>T - IntronicSNV - 2/4 1
13-67777750-C-T c.3036+21787G>A - IntronicSNV - 2/4 1
13-67778106-C-T c.3036+21431G>A - IntronicSNV - 2/4 1
13-67782637-A-C c.3036+16900T>G - IntronicSNV - 2/4 1
13-67785460-T-G c.3036+14077A>C - IntronicSNV - 2/4 1
13-67785476-A-G c.3036+14061T>C - IntronicSNV - 2/4 1
13-67785486-C-G c.3036+14051G>C - IntronicSNV - 2/4 1
13-67785512-T-A c.3036+14025A>T - IntronicSNV - 2/4 1
13-67785514-T-C c.3036+14023A>G - IntronicSNV - 2/4 1
13-67786076-T-A c.3036+13461A>T - IntronicSNV - 2/4 1
13-67786076-T-C c.3036+13461A>G - IntronicSNV - 2/4 1
13-67786076-T-G c.3036+13461A>C - IntronicSNV - 2/4 1
13-67786453-G-A c.3036+13084C>T - IntronicSNV - 2/4 1
13-67786487-AT-A c.3036+13049del - IntronicDeletion - 2/4 1
13-67787267-C-G c.3036+12270G>C - IntronicSNV - 2/4 1
13-67787267-C-T c.3036+12270G>A - IntronicSNV - 2/4 1
13-67787731-G-T c.3036+11806C>A - IntronicSNV - 2/4 1
13-67788779-A-C c.3036+10758T>G - IntronicSNV - 2/4 1
13-67792434-G-A c.3036+7103C>T - IntronicSNV - 2/4 1
13-67792455-A-G c.3036+7082T>C - IntronicSNV - 2/4 1
13-67792461-A-T c.3036+7076T>A - IntronicSNV - 2/4 1
13-67793179-C-T c.3036+6358G>A - IntronicSNV - 2/4 1
13-67794744-G-A c.3036+4793C>T - IntronicSNV - 2/4 1
13-67795614-G-GA c.3036+3922dup - IntronicInsertion - 2/4 1
13-67795930-A-G c.3036+3607T>C - IntronicSNV - 2/4 1
13-67796801-A-T c.3036+2736T>A - IntronicSNV - 2/4 1
13-67797836-G-C c.3036+1701C>G - IntronicSNV - 2/4 1
13-67798585-T-C c.3036+952A>G - IntronicSNV - 2/4 1
13-67798635-C-A c.3036+902G>T - IntronicSNV - 2/4 1
13-67798635-C-G c.3036+902G>C - IntronicSNV - 2/4 1
13-67798635-C-T c.3036+902G>A - IntronicSNV - 2/4 1
13-67798636-G-A c.3036+901C>T - IntronicSNV - 2/4 1
13-67798928-C-T c.3036+609G>A - IntronicSNV - 2/4 2
13-67798956-T-C c.3036+581A>G - IntronicSNV - 2/4 1
13-67799143-G-T c.3036+394C>A - IntronicSNV - 2/4 1
13-67799145-T-C c.3036+392A>G - IntronicSNV - 2/4 1
13-67799176-G-T c.3036+361C>A - IntronicSNV - 2/4 1
13-67799183-G-A c.3036+354C>T - IntronicSNV - 2/4 1
13-67799268-T-C c.3036+269A>G - IntronicSNV - 2/4 1
13-67799289-T-C c.3036+248A>G - IntronicSNV - 2/4 1
13-67799329-G-A c.3036+208C>T - IntronicSNV - 2/4 7
13-67799460-G-A c.3036+77C>T - IntronicSNV - 2/4 1
13-67799460-G-C c.3036+77C>G - IntronicSNV - 2/4 1
13-67799464-T-C c.3036+73A>G - IntronicSNV - 2/4 1
13-67799482-G-C c.3036+55C>G - IntronicSNV - 2/4 1
13-67799503-C-A c.3036+34G>T - IntronicSNV - 2/4 1
13-67799512-T-C c.3036+25A>G - IntronicSNV - 2/4 2
13-67799537-C-T c.3036G>A p.Q1012= Synonymous 2/5 - 1
13-67799538-T-C c.3035A>G p.Q1012R Missense 2/5 - 1
13-67799549-T-A c.3024A>T p.L1008F Missense 2/5 - 1
13-67799555-G-A c.3018C>T p.G1006= Synonymous 2/5 - 1
13-67799556-C-T c.3017G>A p.G1006D Missense 2/5 - 1
13-67799558-C-A c.3015G>T p.K1005N Missense 2/5 - 2
13-67799558-C-G c.3015G>C p.K1005N Missense 2/5 - 1
13-67799564-C-T c.3009G>A p.K1003= Synonymous 2/5 - 1
13-67799571-C-A c.3002G>T p.G1001V Missense 2/5 - 4
13-67799571-C-T c.3002G>A p.G1001D Missense 2/5 - 3
13-67799573-T-A c.3000A>T p.G1000= Synonymous 2/5 - 1
13-67799573-T-C c.3000A>G p.G1000= Synonymous 2/5 - 1
13-67799573-T-G c.3000A>C p.G1000= Synonymous 2/5 - 1
13-67799575-C-A c.2998G>T p.G1000* Nonsense 2/5 - 2
13-67799576-T-A c.2997A>T p.Q999H Missense 2/5 - 1
13-67799576-T-G c.2997A>C p.Q999H Missense 2/5 - 1
13-67799592-G-A c.2981C>T p.S994L Missense 2/5 - 2
13-67799593-A-C c.2980T>G p.S994A Missense 2/5 - 1
13-67799592-GAGGCACTGA-G c.2972_2980del p.F991_A993del InFrameDeletion 2/5 - 1
13-67799595-G-A c.2978C>T p.A993V Missense 2/5 - 1
13-67799596-C-A c.2977G>T p.A993S Missense 2/5 - 1
13-67799607-T-G c.2966A>C p.D989A Missense 2/5 - 1
13-67799608-C-T c.2965G>A p.D989N Missense 2/5 - 1
13-67799610-G-C c.2963C>G p.S988* Nonsense 2/5 - 1
13-67799610-G-T c.2963C>A p.S988* Nonsense 2/5 - 1
13-67799612-A-C c.2961T>G p.S987R Missense 2/5 - 1
13-67799612-A-T c.2961T>A p.S987R Missense 2/5 - 1
13-67799614-T-G c.2959A>C p.S987R Missense 2/5 - 1
13-67799621-A-G c.2952T>C p.S984= Synonymous 2/5 - 1
13-67799623-A-C c.2950T>G p.S984A Missense 2/5 - 1
13-67799624-G-A c.2949C>T p.R983= Synonymous 2/5 - 1
13-67799624-G-C c.2949C>G p.R983= Synonymous 2/5 - 1
13-67799624-G-T c.2949C>A p.R983= Synonymous 2/5 - 1
13-67799628-T-A c.2945A>T p.K982I Missense 2/5 - 1
13-67799631-G-A c.2942C>T p.S981F Missense 2/5 - 1
13-67799635-G-A c.2938C>T p.L980F Missense 2/5 - 1
13-67799636-G-A c.2937C>T p.T979= Synonymous 2/5 - 1
13-67799636-G-C c.2937C>G p.T979= Synonymous 2/5 - 1
13-67799636-G-T c.2937C>A p.T979= Synonymous 2/5 - 2
13-67799637-G-A c.2936C>T p.T979I Missense 2/5 - 6
13-67799641-C-T c.2932G>A p.D978N Missense 2/5 - 1
13-67799642-A-G c.2931T>C p.C977= Synonymous 2/5 - 1
13-67799644-A-G c.2929T>C p.C977R Missense 2/5 - 1
13-67799645-A-G c.2928T>C p.G976= Synonymous 2/5 - 1
13-67799652-A-G c.2921T>C p.V974A Missense 2/5 - 1
13-67799653-C-A c.2920G>T p.V974F Missense 2/5 - 2
13-67799653-C-T c.2920G>A p.V974I Missense 2/5 - 3
13-67799656-A-C c.2917T>G p.F973V Missense 2/5 - 1
13-67799657-G-A c.2916C>T p.T972= Synonymous 2/5 - 1
13-67799657-G-C c.2916C>G p.T972= Synonymous 2/5 - 1
13-67799657-G-T c.2916C>A p.T972= Synonymous 2/5 - 2
13-67799663-G-C c.2910C>G p.D970E Missense 2/5 - 4
13-67799663-G-T c.2910C>A p.D970E Missense 2/5 - 6
13-67799664-T-C c.2909A>G p.D970G Missense 2/5 - 1
13-67799666-C-T c.2907G>A p.L969= Synonymous 2/5 - 2
13-67799668-A-G c.2905T>C p.L969= Synonymous 2/5 - 1
13-67799670-G-A c.2903C>T p.P968L Missense 2/5 - 3
13-67799670-GG-AA c.2902_2903delinsTT p.P968F Missense 2/5 - 2
13-67799670-GG-TT c.2902_2903delinsAA p.P968N Missense 2/5 - 1
13-67799671-G-A c.2902C>T p.P968S Missense 2/5 - 6
13-67799671-G-T c.2902C>A p.P968T Missense 2/5 - 2
13-67799672-G-A c.2901C>T p.L967= Synonymous 2/5 - 1
13-67799672-G-C c.2901C>G p.L967= Synonymous 2/5 - 1
13-67799672-G-T c.2901C>A p.L967= Synonymous 2/5 - 1
13-67799678-C-T c.2895G>A p.Q965= Synonymous 2/5 - 1
13-67799680-G-A c.2893C>T p.Q965* Nonsense 2/5 - 1
13-67799682-A-G c.2891T>C p.I964T Missense 2/5 - 1
13-67799687-G-C c.2886C>G p.H962Q Missense 2/5 - 5
13-67799687-G-T c.2886C>A p.H962Q Missense 2/5 - 2
13-67799693-CT-C c.2879del p.K960Sfs*4 Frameshift 2/5 - 1
13-67799716-C-T c.2857G>A p.D953N Missense 2/5 - 3
13-67799725-G-C c.2848C>G p.L950V Missense 2/5 - 1
13-67799727-T-C c.2846A>G p.H949R Missense 2/5 - 1
13-67799728-G-T c.2845C>A p.H949N Missense 2/5 - 1
13-67799729-A-G c.2844T>C p.F948= Synonymous 2/5 - 1
13-67799735-A-T c.2838T>A p.P946= Synonymous 2/5 - 2
13-67799736-G-T c.2837C>A p.P946H Missense 2/5 - 2
13-67799745-G-A c.2828C>T p.S943F Missense 2/5 - 5
13-67799746-A-G c.2827T>C p.S943P Missense 2/5 - 1
13-67799761-G-T c.2812C>A p.H938N Missense 2/5 - 1
13-67799762-C-A c.2811G>T p.K937N Missense 2/5 - 1
13-67799763-T-A c.2810A>T p.K937M Missense 2/5 - 1
13-67799767-C-A c.2806G>T p.A936S Missense 2/5 - 3
13-67799767-C-T c.2806G>A p.A936T Missense 2/5 - 1
13-67799770-G-T c.2803C>A p.L935M Missense 2/5 - 1
13-67799771-G-A c.2802C>T p.D934= Synonymous 2/5 - 3
13-67799776-G-C c.2797C>G p.P933A Missense 2/5 - 4
13-67799777-A-G c.2796T>C p.S932= Synonymous 2/5 - 1
13-67799780-G-C c.2793C>G p.N931K Missense 2/5 - 1
13-67799780-G-T c.2793C>A p.N931K Missense 2/5 - 2
13-67799784-G-A c.2789C>T p.P930L Missense 2/5 - 2
13-67799790-A-T c.2783T>A p.F928Y Missense 2/5 - 1
13-67799789-G-C c.2784C>G p.F928L Missense 2/5 - 1
13-67799789-G-T c.2784C>A p.F928L Missense 2/5 - 1
13-67799791-A-G c.2782T>C p.F928L Missense 2/5 - 1
13-67799799-G-T c.2774C>A p.P925Q Missense 2/5 - 1
13-67799800-G-A c.2773C>T p.P925S Missense 2/5 - 1
13-67799808-G-A c.2765C>T p.P922L Missense 2/5 - 2
13-67799809-G-A c.2764C>T p.P922S Missense 2/5 - 2
13-67799827-C-A c.2746G>T p.G916* Nonsense 2/5 - 1
13-67799837-C-T c.2736G>A p.E912= Synonymous 2/5 - 1
13-67799839-C-T c.2734G>A p.E912K Missense 2/5 - 1
13-67799840-C-A c.2733G>T p.E911D Missense 2/5 - 1
13-67799840-C-G c.2733G>C p.E911D Missense 2/5 - 1
13-67799840-C-T c.2733G>A p.E911= Synonymous 2/5 - 1
13-67799842-C-G c.2731G>C p.E911Q Missense 2/5 - 9
13-67799844-A-T c.2729T>A p.L910Q Missense 2/5 - 2
13-67799846-T-C c.2727A>G p.E909= Synonymous 2/5 - 1
13-67799852-C-A c.2721G>T p.P907= Synonymous 2/5 - 1
13-67799852-C-T c.2721G>A p.P907= Synonymous 2/5 - 1
13-67799853-G-A c.2720C>T p.P907L Missense 2/5 - 1
13-67799853-G-T c.2720C>A p.P907Q Missense 2/5 - 1
13-67799854-G-A c.2719C>T p.P907S Missense 2/5 - 1
13-67799854-G-C c.2719C>G p.P907A Missense 2/5 - 1
13-67799854-G-T c.2719C>A p.P907T Missense 2/5 - 1
13-67799857-G-A c.2716C>T p.L906= Synonymous 2/5 - 1
13-67799859-C-T c.2714G>A p.S905N Missense 2/5 - 1
13-67799860-T-C c.2713A>G p.S905G Missense 2/5 - 1
13-67799867-C-T c.2706G>A p.G902= Synonymous 2/5 - 2
13-67799870-A-G c.2703T>C p.N901= Synonymous 2/5 - 2
13-67799876-A-G c.2697T>C p.P899= Synonymous 2/5 - 1
13-67799877-G-C c.2696C>G p.P899R Missense 2/5 - 1
13-67799877-G-T c.2696C>A p.P899H Missense 2/5 - 1
13-67799878-G-T c.2695C>A p.P899T Missense 2/5 - 1
13-67799881-C-T c.2692G>A p.E898K Missense 2/5 - 3
13-67799888-T-G c.2685A>C p.A895= Synonymous 2/5 - 1
13-67799890-C-T c.2683G>A p.A895T Missense 2/5 - 3
13-67799894-A-G c.2679T>C p.D893= Synonymous 2/5 - 1
13-67799896-C-T c.2677G>A p.D893N Missense 2/5 - 2
13-67799904-G-T c.2669C>A p.S890Y Missense 2/5 - 1
13-67799911-C-T c.2662G>A p.E888K Missense 2/5 - 8
13-67799912-G-A c.2661C>T p.I887= Synonymous 2/5 - 3
13-67799912-G-T c.2661C>A p.I887= Synonymous 2/5 - 1
13-67799917-T-C c.2656A>G p.T886A Missense 2/5 - 2
13-67799923-A-C c.2650T>G p.F884V Missense 2/5 - 1
13-67799923-A-G c.2650T>C p.F884L Missense 2/5 - 2
13-67799924-G-A c.2649C>T p.N883= Synonymous 2/5 - 1
13-67799924-G-C c.2649C>G p.N883K Missense 2/5 - 1
13-67799924-G-T c.2649C>A p.N883K Missense 2/5 - 2
13-67799929-A-G c.2644T>C p.L882= Synonymous 2/5 - 1
13-67799934-G-A c.2639C>T p.S880F Missense 2/5 - 4
13-67799942-G-T c.2631C>A p.P877= Synonymous 2/5 - 1
13-67799944-G-A c.2629C>T p.P877S Missense 2/5 - 8
13-67799946-G-C c.2627C>G p.S876C Missense 2/5 - 1
13-67799951-C-A c.2622G>T p.R874S Missense 2/5 - 1
13-67799951-C-G c.2622G>C p.R874S Missense 2/5 - 1
13-67799953-T-A c.2620A>T p.R874W Missense 2/5 - 1
13-67799953-T-C c.2620A>G p.R874G Missense 2/5 - 2
13-67799954-T-A c.2619A>T p.K873N Missense 2/5 - 2
13-67799954-T-G c.2619A>C p.K873N Missense 2/5 - 1
13-67799957-C-T c.2616G>A p.K872= Synonymous 2/5 - 1
13-67799966-C-CT c.2606dup p.K870Efs*25 Frameshift 2/5 - 1
13-67799979-T-C c.2594A>G p.Q865R Missense 2/5 - 1
13-67799981-C-A c.2592G>T p.K864N Missense 2/5 - 2
13-67799981-C-G c.2592G>C p.K864N Missense 2/5 - 1
13-67799981-C-T c.2592G>A p.K864= Synonymous 2/5 - 1
13-67799984-G-A c.2589C>T p.N863= Synonymous 2/5 - 1
13-67799985-T-A c.2588A>T p.N863I Missense 2/5 - 2
13-67799987-C-T c.2586G>A p.E862= Synonymous 2/5 - 1
13-67799988-T-TC c.2584dup p.E862Gfs*33 Frameshift 2/5 - 1
13-67799998-G-A c.2575C>T p.P859S Missense 2/5 - 2
13-67799999-G-A c.2574C>T p.S858= Synonymous 2/5 - 1
13-67799999-G-T c.2574C>A p.S858= Synonymous 2/5 - 1
13-67799996-TG-T c.2576del p.P859Qfs*24 Frameshift 2/5 - 2
13-67800005-C-G c.2568G>C p.W856C Missense 2/5 - 1
13-67800009-T-A c.2564A>T p.E855V Missense 2/5 - 1
13-67800010-C-T c.2563G>A p.E855K Missense 2/5 - 3
13-67800011-G-A c.2562C>T p.A854= Synonymous 2/5 - 7
13-67800011-G-C c.2562C>G p.A854= Synonymous 2/5 - 5
13-67800011-G-T c.2562C>A p.A854= Synonymous 2/5 - 5
13-67800014-A-C c.2559T>G p.G853= Synonymous 2/5 - 1
13-67800014-A-G c.2559T>C p.G853= Synonymous 2/5 - 1
13-67800024-C-T c.2549G>A p.S850N Missense 2/5 - 1
13-67800029-C-A c.2544G>T p.Q848H Missense 2/5 - 1
13-67800029-C-G c.2544G>C p.Q848H Missense 2/5 - 1
13-67800033-G-A c.2540C>T p.A847V Missense 2/5 - 1
13-67800037-C-T c.2536G>A p.A846T Missense 2/5 - 3
13-67800056-G-C c.2517C>G p.R839= Synonymous 2/5 - 1
13-67800057-C-T c.2516G>A p.R839H Missense 2/5 - 2
13-67800060-C-A c.2513G>T p.C838F Missense 2/5 - 1
13-67800062-GCG-CTT c.2509_2511delinsAAG p.R837K Missense 2/5 - 1
13-67800063-C-T c.2510G>A p.R837H Missense 2/5 - 1
13-67800064-G-A c.2509C>T p.R837C Missense 2/5 - 6
13-67800065-C-A c.2508G>T p.V836= Synonymous 2/5 - 1
13-67800065-C-G c.2508G>C p.V836= Synonymous 2/5 - 1
13-67800065-C-T c.2508G>A p.V836= Synonymous 2/5 - 1
13-67800067-C-G c.2506G>C p.V836L Missense 2/5 - 1
13-67800073-C-G c.2500G>C p.V834L Missense 2/5 - 1
13-67800073-C-T c.2500G>A p.V834I Missense 2/5 - 6
13-67800079-C-T c.2494G>A p.V832I Missense 2/5 - 1
13-67800080-G-A c.2493C>T p.F831= Synonymous 2/5 - 4
13-67800080-G-C c.2493C>G p.F831L Missense 2/5 - 1
13-67800083-G-A c.2490C>T p.I830= Synonymous 2/5 - 1
13-67800086-C-A c.2487G>T p.V829= Synonymous 2/5 - 1
13-67800086-CAC-AAA c.2485_2487delinsTTT p.V829F Missense 2/5 - 1
13-67800086-C-G c.2487G>C p.V829= Synonymous 2/5 - 1
13-67800086-C-T c.2487G>A p.V829= Synonymous 2/5 - 1
13-67800089-AAC-CAT c.2482_2484delinsATG p.V828M Missense 2/5 - 1
13-67800090-A-G c.2483T>C p.V828A Missense 2/5 - 2
13-67800095-G-T c.2478C>A p.V826= Synonymous 2/5 - 1
13-67800097-C-T c.2476G>A p.V826I Missense 2/5 - 1
13-67800099-A-C c.2474T>G p.V825G Missense 2/5 - 1
13-67800099-A-T c.2474T>A p.V825E Missense 2/5 - 4
13-67800101-C-T c.2472G>A p.M824I Missense 2/5 - 1
13-67800108-C-T c.2465G>A p.G822D Missense 2/5 - 1
13-67800109-C-A c.2464G>T p.G822C Missense 2/5 - 3
13-67800109-C-T c.2464G>A p.G822S Missense 2/5 - 3
13-67800118-T-C c.2455A>G p.I819V Missense 2/5 - 6
13-67800120-G-A c.2453C>T p.A818V Missense 2/5 - 1
13-67800121-C-CA c.2451dup p.A818Cfs*77 Frameshift 2/5 - 2
13-67800124-T-A c.2449A>T p.I817F Missense 2/5 - 2
13-67800130-T-C c.2443A>G p.I815V Missense 2/5 - 1
13-67800131-G-A c.2442C>T p.T814= Synonymous 2/5 - 1
13-67800131-G-C c.2442C>G p.T814= Synonymous 2/5 - 1
13-67800131-G-T c.2442C>A p.T814= Synonymous 2/5 - 1
13-67800132-G-A c.2441C>T p.T814I Missense 2/5 - 4
13-67800136-G-C c.2437C>G p.L813V Missense 2/5 - 1
13-67800137-A-T c.2436T>A p.Y812* Nonsense 2/5 - 1
13-67800145-C-T c.2428G>A p.E810K Missense 2/5 - 3
13-67800151-G-A c.2422C>T p.Q808* Nonsense 2/5 - 1
13-67800151-G-T c.2422C>A p.Q808K Missense 2/5 - 1
13-67800158-T-C c.2415A>G p.Q805= Synonymous 2/5 - 2
13-67800162-C-T c.2411G>A p.S804N Missense 2/5 - 2
13-67800165-CT-AA c.2407_2408delinsTT p.S803F Missense 2/5 - 2
13-67800171-C-A c.2402G>T p.G801V Missense 2/5 - 1
13-67800180-C-T c.2393G>A p.R798K Missense 2/5 - 1
13-67800184-C-T c.2389G>A p.D797N Missense 2/5 - 2
13-67800185-CA-C c.2387del p.L796Wfs*5 Frameshift 2/5 - 1
13-67800189-G-A c.2384C>T p.P795L Missense 2/5 - 2
13-67800194-C-A c.2379G>T p.E793D Missense 2/5 - 2
13-67800194-C-G c.2379G>C p.E793D Missense 2/5 - 2
13-67800198-A-G c.2375T>C p.M792T Missense 2/5 - 1
13-67800200-A-C c.2373T>G p.T791= Synonymous 2/5 - 1
13-67800201-G-A c.2372C>T p.T791I Missense 2/5 - 4
13-67800201-G-T c.2372C>A p.T791N Missense 2/5 - 1
13-67800204-C-A c.2369G>T p.R790M Missense 2/5 - 4
13-67800206-G-A c.2367C>T p.R789= Synonymous 2/5 - 1
13-67800207-C-G c.2366G>C p.R789P Missense 2/5 - 1
13-67800207-C-T c.2366G>A p.R789H Missense 2/5 - 1
13-67800208-G-A c.2365C>T p.R789C Missense 2/5 - 1
13-67800210-A-C c.2363T>G p.I788S Missense 2/5 - 1
13-67800213-A-T c.2360T>A p.L787* Nonsense 2/5 - 1
13-67800217-C-A c.2356G>T p.D786Y Missense 2/5 - 3
13-67800226-A-T c.2347T>A p.Y783N Missense 2/5 - 1
13-67800228-G-A c.2345C>T p.S782F Missense 2/5 - 3
13-67800230-G-A c.2343C>T p.A781= Synonymous 2/5 - 1
13-67800230-G-C c.2343C>G p.A781= Synonymous 2/5 - 1
13-67800230-G-T c.2343C>A p.A781= Synonymous 2/5 - 1
13-67800231-G-A c.2342C>T p.A781V Missense 2/5 - 3
13-67800231-G-T c.2342C>A p.A781D Missense 2/5 - 1
13-67800233-A-C c.2340T>G p.N780K Missense 2/5 - 4
13-67800238-C-A c.2335G>T p.G779* Nonsense 2/5 - 1
13-67800243-G-C c.2330C>G p.T777S Missense 2/5 - 1
13-67800244-T-A c.2329A>T p.T777S Missense 2/5 - 1
13-67800246-T-C c.2327A>G p.D776G Missense 2/5 - 1
13-67800246-T-G c.2327A>C p.D776A Missense 2/5 - 2
13-67800247-C-T c.2326G>A p.D776N Missense 2/5 - 2
13-67800248-G-A c.2325C>T p.N775= Synonymous 2/5 - 1
13-67800259-G-T c.2314C>A p.L772I Missense 2/5 - 1
13-67800263-T-C c.2310A>G p.V770= Synonymous 2/5 - 1
13-67800265-C-T c.2308G>A p.V770I Missense 2/5 - 2
13-67800274-G-T c.2299C>A p.L767I Missense 2/5 - 4
13-67800275-C-T c.2298G>A p.T766= Synonymous 2/5 - 1
13-67800276-G-A c.2297C>T p.T766M Missense 2/5 - 1
13-67800278-G-A c.2295C>T p.H765= Synonymous 2/5 - 1
13-67800284-A-C c.2289T>G p.S763= Synonymous 2/5 - 1
13-67800284-A-G c.2289T>C p.S763= Synonymous 2/5 - 1
13-67800284-A-T c.2289T>A p.S763= Synonymous 2/5 - 1
13-67800286-A-G c.2287T>C p.S763P Missense 2/5 - 2
13-67800287-ACTT-A c.2284_2286del p.K762del InFrameDeletion 2/5 - 1
13-67800287-C-T c.2286G>A p.K762= Synonymous 2/5 - 1
13-67800288-T-C c.2285A>G p.K762R Missense 2/5 - 1
13-67800292-G-T c.2281C>A p.P761T Missense 2/5 - 1
13-67800295-A-T c.2278T>A p.Y760N Missense 2/5 - 1
13-67800297-C-G c.2276G>C p.G759A Missense 2/5 - 2
13-67800324-C-A c.2249G>T p.R750L Missense 2/5 - 1
13-67800324-C-T c.2249G>A p.R750H Missense 2/5 - 4
13-67800326-A-G c.2247T>C p.H749= Synonymous 2/5 - 2
13-67800333-C-T c.2240G>A p.G747E Missense 2/5 - 2
13-67800337-C-T c.2236G>A p.V746M Missense 2/5 - 2
13-67800341-A-C c.2232T>G p.T744= Synonymous 2/5 - 1
13-67800341-A-G c.2232T>C p.T744= Synonymous 2/5 - 1
13-67800341-A-T c.2232T>A p.T744= Synonymous 2/5 - 1
13-67800342-G-A c.2231C>T p.T744I Missense 2/5 - 1
13-67800351-G-A c.2222C>T p.P741L Missense 2/5 - 7
13-67800352-G-A c.2221C>T p.P741S Missense 2/5 - 1
13-67800353-T-C c.2220A>G p.K740= Synonymous 2/5 - 1
13-67800353-T-G c.2220A>C p.K740N Missense 2/5 - 1
13-67800356-T-A c.2217A>T p.E739D Missense 2/5 - 1
13-67800356-T-G c.2217A>C p.E739D Missense 2/5 - 1
13-67800358-C-A c.2215G>T p.E739* Nonsense 2/5 - 1
13-67800362-C-A c.2211G>T p.L737= Synonymous 2/5 - 2
13-67800362-C-G c.2211G>C p.L737= Synonymous 2/5 - 2
13-67800362-C-T c.2211G>A p.L737= Synonymous 2/5 - 2
13-67800364-G-A c.2209C>T p.L737= Synonymous 2/5 - 3
13-67800385-G-A c.2188C>T p.P730S Missense 2/5 - 1
13-67800385-G-T c.2188C>A p.P730T Missense 2/5 - 1
13-67800388-C-A c.2185G>T p.D729Y Missense 2/5 - 1
13-67800388-C-G c.2185G>C p.D729H Missense 2/5 - 1
13-67800388-C-T c.2185G>A p.D729N Missense 2/5 - 1
13-67800389-A-G c.2184T>C p.I728= Synonymous 2/5 - 1
13-67800393-C-T c.2180G>A p.R727Q Missense 2/5 - 2
13-67800394-G-A c.2179C>T p.R727W Missense 2/5 - 1
13-67800394-G-T c.2179C>A p.R727= Synonymous 2/5 - 1
13-67800395-G-A c.2178C>T p.F726= Synonymous 2/5 - 6
13-67800402-C-T c.2171G>A p.G724D Missense 2/5 - 1
13-67800403-C-G c.2170G>C p.G724R Missense 2/5 - 1
13-67800411-T-C c.2162A>G p.N721S Missense 2/5 - 1
13-67800417-C-T c.2156G>A p.S719N Missense 2/5 - 1
13-67800418-T-A c.2155A>T p.S719C Missense 2/5 - 3
13-67800419-C-A c.2154G>T p.V718= Synonymous 2/5 - 1
13-67800419-C-G c.2154G>C p.V718= Synonymous 2/5 - 3
13-67800419-C-T c.2154G>A p.V718= Synonymous 2/5 - 1
13-67800420-A-T c.2153T>A p.V718E Missense 2/5 - 1
13-67800425-A-G c.2148T>C p.T716= Synonymous 2/5 - 1
13-67800425-A-T c.2148T>A p.T716= Synonymous 2/5 - 1
13-67800426-G-A c.2147C>T p.T716I Missense 2/5 - 4
13-67800426-G-T c.2147C>A p.T716N Missense 2/5 - 3
13-67800429-T-A c.2144A>T p.Y715F Missense 2/5 - 1
13-67800430-A-G c.2143T>C p.Y715H Missense 2/5 - 1
13-67800443-G-A c.2130C>T p.N710= Synonymous 2/5 - 2
13-67800446-C-A c.2127G>T p.M709I Missense 2/5 - 1
13-67800446-C-G c.2127G>C p.M709I Missense 2/5 - 1
13-67800446-C-T c.2127G>A p.M709I Missense 2/5 - 1
13-67800451-C-A c.2122G>T p.G708* Nonsense 2/5 - 2
13-67800451-C-T c.2122G>A p.G708R Missense 2/5 - 1
13-67800450-CCAGTGT-C c.2117_2122del p.D706_T707del InFrameDeletion 2/5 - 1
13-67800453-G-A c.2120C>T p.T707I Missense 2/5 - 1
13-67800469-C-T c.2104G>A p.A702T Missense 2/5 - 1
13-67800472-A-T c.2101T>A p.F701I Missense 2/5 - 1
13-67800469-C-CA c.2103dup p.A702Cfs*5 Frameshift 2/5 - 1
13-67800478-C-A c.2095G>T p.E699* Nonsense 2/5 - 1
13-67800478-C-T c.2095G>A p.E699K Missense 2/5 - 2
13-67800481-C-T c.2092G>A p.A698T Missense 2/5 - 1
13-67800487-C-T c.2086G>A p.V696M Missense 2/5 - 1
13-67800489-G-A c.2084C>T p.S695F Missense 2/5 - 6
13-67800492-C-T c.2081G>A p.G694D Missense 2/5 - 1
13-67800495-G-A c.2078C>T p.P693L Missense 2/5 - 1
13-67800496-G-A c.2077C>T p.P693S Missense 2/5 - 4
13-67800500-G-A c.2073C>T p.A691= Synonymous 2/5 - 1
13-67800500-G-C c.2073C>G p.A691= Synonymous 2/5 - 1
13-67800500-G-T c.2073C>A p.A691= Synonymous 2/5 - 1
13-67800502-C-A c.2071G>T p.A691S Missense 2/5 - 1
13-67800504-G-A c.2069C>T p.S690L Missense 2/5 - 1
13-67800507-A-T c.2066T>A p.L689H Missense 2/5 - 1
13-67800508-G-A c.2065C>T p.L689F Missense 2/5 - 1
13-67800509-G-A c.2064C>T p.P688= Synonymous 2/5 - 1
13-67800507-AG-A c.2065del p.L689Sfs*9 Frameshift 2/5 - 3
13-67800514-C-A c.2059G>T p.V687L Missense 2/5 - 1
13-67800514-C-G c.2059G>C p.V687L Missense 2/5 - 1
13-67800515-C-A c.2058G>T p.L686F Missense 2/5 - 1
13-67800515-C-G c.2058G>C p.L686F Missense 2/5 - 1
13-67800523-A-C c.2050T>G p.F684V Missense 2/5 - 1
13-67800523-A-T c.2050T>A p.F684I Missense 2/5 - 1
13-67800524-G-A c.2049C>T p.S683= Synonymous 2/5 - 3
13-67800524-G-C c.2049C>G p.S683= Synonymous 2/5 - 2
13-67800524-G-T c.2049C>A p.S683= Synonymous 2/5 - 2
13-67800525-G-A c.2048C>T p.S683F Missense 2/5 - 1
13-67800525-G-T c.2048C>A p.S683Y Missense 2/5 - 2
13-67800532-T-C c.2041A>G p.N681D Missense 2/5 - 1
13-67800536-C-A c.2037G>T p.P679= Synonymous 2/5 - 1
13-67800536-C-G c.2037G>C p.P679= Synonymous 2/5 - 1
13-67800536-C-T c.2037G>A p.P679= Synonymous 2/5 - 1
13-67800537-G-A c.2036C>T p.P679L Missense 2/5 - 2
13-67800537-G-T c.2036C>A p.P679Q Missense 2/5 - 1
13-67800538-G-A c.2035C>T p.P679S Missense 2/5 - 1
13-67800539-T-C c.2034A>G p.P678= Synonymous 2/5 - 1
13-67800540-G-T c.2033C>A p.P678Q Missense 2/5 - 1
13-67800541-G-A c.2032C>T p.P678S Missense 2/5 - 1
13-67800543-G-T c.2030C>A p.S677Y Missense 2/5 - 1
13-67800544-A-C c.2029T>G p.S677A Missense 2/5 - 1
13-67800544-A-G c.2029T>C p.S677P Missense 2/5 - 1
13-67800544-A-T c.2029T>A p.S677T Missense 2/5 - 1
13-67800554-TG-AT c.2018_2019delinsAT p.P673H Missense 2/5 - 1
13-67800557-G-A c.2016C>T p.S672= Synonymous 2/5 - 1
13-67800560-G-A c.2013C>T p.N671= Synonymous 2/5 - 1
13-67800570-A-G c.2003T>C p.V668A Missense 2/5 - 3
13-67800573-T-A c.2000A>T p.D667V Missense 2/5 - 1
13-67800580-C-A c.1993G>T p.V665F Missense 2/5 - 2
13-67800580-C-T c.1993G>A p.V665I Missense 2/5 - 3
13-67800581-G-A c.1992C>T p.N664= Synonymous 2/5 - 1
13-67800584-G-A c.1989C>T p.I663= Synonymous 2/5 - 1
13-67800584-G-T c.1989C>A p.I663= Synonymous 2/5 - 1
13-67800588-G-A c.1985C>T p.T662I Missense 2/5 - 1
13-67800589-T-G c.1984A>C p.T662P Missense 2/5 - 4
13-67800591-A-C c.1982T>G p.V661G Missense 2/5 - 1
13-67800592-AC-A c.1981del p.V661* Frameshift 2/5 - 1
13-67800592-C-CTA c.1980_1981insTA p.V661* Nonsense 2/5 - 1
13-67800594-T-G c.1979A>C p.K660T Missense 2/5 - 4
13-67800603-G-C c.1970C>G p.S657C Missense 2/5 - 2
13-67800609-C-G c.1964G>C p.R655P Missense 2/5 - 5
13-67800610-G-A c.1963C>T p.R655C Missense 2/5 - 2
13-67800610-G-T c.1963C>A p.R655S Missense 2/5 - 2
13-67800613-G-A c.1960C>T p.P654S Missense 2/5 - 2
13-67800617-T-C c.1956A>G p.Q652= Synonymous 2/5 - 1
13-67800619-G-T c.1954C>A p.Q652K Missense 2/5 - 3
13-67800623-T-C c.1950A>G p.G650= Synonymous 2/5 - 1
13-67800624-C-G c.1949G>C p.G650A Missense 2/5 - 1
13-67800624-C-T c.1949G>A p.G650E Missense 2/5 - 2
13-67800628-C-G c.1945G>C p.D649H Missense 2/5 - 2
13-67800637-T-G c.1936A>C p.K646Q Missense 2/5 - 3
13-67800640-C-T c.1933G>A p.V645I Missense 2/5 - 1
13-67800643-C-G c.1930G>C p.D644H Missense 2/5 - 1
13-67800644-A-G c.1929T>C p.F643= Synonymous 2/5 - 2
13-67800653-G-T c.1920C>A p.S640= Synonymous 2/5 - 1
13-67800654-G-A c.1919C>T p.S640F Missense 2/5 - 2
13-67800658-T-TA c.1914_1915insT p.S639* Nonsense 2/5 - 1
13-67800659-C-T c.1914G>A p.Q638= Synonymous 2/5 - 1
13-67800660-T-C c.1913A>G p.Q638R Missense 2/5 - 1
13-67800669-C-G c.1904G>C p.R635T Missense 2/5 - 1
13-67800674-A-C c.1899T>G p.F633L Missense 2/5 - 1
13-67800674-A-T c.1899T>A p.F633L Missense 2/5 - 1
13-67800676-A-G c.1897T>C p.F633L Missense 2/5 - 2
13-67800678-G-A c.1895C>T p.S632L Missense 2/5 - 1
13-67800678-G-T c.1895C>A p.S632* Nonsense 2/5 - 1
13-67800679-A-C c.1894T>G p.S632A Missense 2/5 - 1
13-67800686-T-A c.1887A>T p.S629= Synonymous 2/5 - 1
13-67800686-T-C c.1887A>G p.S629= Synonymous 2/5 - 1
13-67800686-T-G c.1887A>C p.S629= Synonymous 2/5 - 1
13-67800687-G-T c.1886C>A p.S629* Nonsense 2/5 - 1
13-67800689-C-A c.1884G>T p.K628N Missense 2/5 - 1
13-67800689-C-G c.1884G>C p.K628N Missense 2/5 - 1
13-67800690-T-G c.1883A>C p.K628T Missense 2/5 - 2
13-67800691-T-C c.1882A>G p.K628E Missense 2/5 - 1
13-67800697-C-G c.1876G>C p.V626L Missense 2/5 - 1
13-67800699-C-G c.1874G>C p.G625A Missense 2/5 - 1
13-67800709-G-A c.1864C>T p.P622S Missense 2/5 - 1
13-67800710-A-G c.1863T>C p.D621= Synonymous 2/5 - 1
13-67800719-A-T c.1854T>A p.F618L Missense 2/5 - 1
13-67800721-A-C c.1852T>G p.F618V Missense 2/5 - 1
13-67800725-A-T c.1848T>A p.D616E Missense 2/5 - 1
13-67800728-A-G c.1845T>C p.N615= Synonymous 2/5 - 1
13-67800731-G-T c.1842C>A p.D614E Missense 2/5 - 1
13-67800732-T-C c.1841A>G p.D614G Missense 2/5 - 1
13-67800737-T-C c.1836A>G p.L612= Synonymous 2/5 - 2
13-67800743-G-A c.1830C>T p.S610= Synonymous 2/5 - 3
13-67800747-A-G c.1826T>C p.L609P Missense 2/5 - 3
13-67800748-G-A c.1825C>T p.L609F Missense 2/5 - 2
13-67800756-G-A c.1817C>T p.A606V Missense 2/5 - 3
13-67800759-T-C c.1814A>G p.K605R Missense 2/5 - 1
13-67800764-C-A c.1809G>T p.E603D Missense 2/5 - 1
13-67800764-C-G c.1809G>C p.E603D Missense 2/5 - 1
13-67800764-C-T c.1809G>A p.E603= Synonymous 2/5 - 4
13-67800766-C-T c.1807G>A p.E603K Missense 2/5 - 2
13-67800769-C-T c.1804G>A p.G602R Missense 2/5 - 1
13-67800771-G-A c.1802C>T p.A601V Missense 2/5 - 1
13-67800772-C-T c.1801G>A p.A601T Missense 2/5 - 1
13-67800773-A-G c.1800T>C p.D600= Synonymous 2/5 - 1
13-67800776-T-G c.1797A>C p.A599= Synonymous 2/5 - 1
13-67800777-G-T c.1796C>A p.A599E Missense 2/5 - 3
13-67800780-T-G c.1793A>C p.D598A Missense 2/5 - 3
13-67800785-C-A c.1788G>T p.V596= Synonymous 2/5 - 2
13-67800785-C-T c.1788G>A p.V596= Synonymous 2/5 - 2
13-67800786-A-C c.1787T>G p.V596G Missense 2/5 - 1
13-67800794-T-TA c.1778dup p.I594Nfs*12 Frameshift 2/5 - 1
13-67800796-C-T c.1777G>A p.V593I Missense 2/5 - 1
13-67800798-C-T c.1775G>A p.G592E Missense 2/5 - 1
13-67800801-A-G c.1772T>C p.V591A Missense 2/5 - 1
13-67800802-C-T c.1771G>A p.V591M Missense 2/5 - 1
13-67800804-G-A c.1769C>T p.T590I Missense 2/5 - 2
13-67800804-G-T c.1769C>A p.T590N Missense 2/5 - 1
13-67800805-T-A c.1768A>T p.T590S Missense 2/5 - 3
13-67800807-CTA-C c.1764_1765del p.Y588* Frameshift 2/5 - 1
13-67800812-C-A c.1761G>T p.K587N Missense 2/5 - 1
13-67800812-C-G c.1761G>C p.K587N Missense 2/5 - 2
13-67800825-T-G c.1748A>C p.E583A Missense 2/5 - 1
13-67800826-C-A c.1747G>T p.E583* Nonsense 2/5 - 3
13-67800833-A-G c.1740T>C p.F580= Synonymous 2/5 - 1
13-67800833-A-C c.1740T>G p.F580L Missense 2/5 - 1
13-67800833-A-T c.1740T>A p.F580L Missense 2/5 - 1
13-67800835-A-C c.1738T>G p.F580V Missense 2/5 - 1
13-67800835-A-G c.1738T>C p.F580L Missense 2/5 - 1
13-67800832-CA-C c.1740del p.F580Lfs*14 Frameshift 2/5 - 4
13-67800839-T-A c.1734A>T p.Q578H Missense 2/5 - 4
13-67800839-T-C c.1734A>G p.Q578= Synonymous 2/5 - 1
13-67800839-T-G c.1734A>C p.Q578H Missense 2/5 - 3
13-67800846-T-C c.1727A>G p.H576R Missense 2/5 - 1
13-67800847-G-A c.1726C>T p.H576Y Missense 2/5 - 1
13-67800852-T-C c.1721A>G p.H574R Missense 2/5 - 1
13-67800854-A-C c.1719T>G p.T573= Synonymous 2/5 - 1
13-67800854-A-G c.1719T>C p.T573= Synonymous 2/5 - 1
13-67800854-A-T c.1719T>A p.T573= Synonymous 2/5 - 1
13-67800857-A-C c.1716T>G p.F572L Missense 2/5 - 1
13-67800857-A-T c.1716T>A p.F572L Missense 2/5 - 1
13-67800859-A-G c.1714T>C p.F572L Missense 2/5 - 1
13-67800861-T-C c.1712A>G p.K571R Missense 2/5 - 1
13-67800860-CT-C c.1712del p.K571Sfs*23 Frameshift 2/5 - 1
13-67800865-G-A c.1708C>T p.P570S Missense 2/5 - 1
13-67800867-C-A c.1706G>T p.S569I Missense 2/5 - 1
13-67800867-C-T c.1706G>A p.S569N Missense 2/5 - 2
13-67800868-T-C c.1705A>G p.S569G Missense 2/5 - 1
13-67800869-A-C c.1704T>G p.N568K Missense 2/5 - 1
13-67800869-A-T c.1704T>A p.N568K Missense 2/5 - 1
13-67800880-C-T c.1693G>A p.E565K Missense 2/5 - 3
13-67800883-C-A c.1690G>T p.D564Y Missense 2/5 - 3
13-67800888-A-C c.1685T>G p.V562G Missense 2/5 - 1
13-67800888-AC-CA c.1684_1685delinsTG p.V562C Missense 2/5 - 1
13-67800889-C-A c.1684G>T p.V562F Missense 2/5 - 2
13-67800891-G-A c.1682C>T p.T561I Missense 2/5 - 2
13-67800892-T-C c.1681A>G p.T561A Missense 2/5 - 1
13-67800898-T-A c.1675A>T p.I559F Missense 2/5 - 1
13-67800905-C-A c.1668G>T p.A556= Synonymous 2/5 - 2
13-67800905-C-G c.1668G>C p.A556= Synonymous 2/5 - 1
13-67800905-C-T c.1668G>A p.A556= Synonymous 2/5 - 1
13-67800906-G-A c.1667C>T p.A556V Missense 2/5 - 2
13-67800906-G-T c.1667C>A p.A556E Missense 2/5 - 3
13-67800907-C-A c.1666G>T p.A556S Missense 2/5 - 1
13-67800912-C-T c.1661G>A p.S554N Missense 2/5 - 1
13-67800914-T-A c.1659A>T p.Q553H Missense 2/5 - 1
13-67800914-T-G c.1659A>C p.Q553H Missense 2/5 - 1
13-67800919-G-A c.1654C>T p.L552F Missense 2/5 - 1
13-67800920-G-A c.1653C>T p.P551= Synonymous 2/5 - 3
13-67800920-G-C c.1653C>G p.P551= Synonymous 2/5 - 2
13-67800920-G-T c.1653C>A p.P551= Synonymous 2/5 - 2
13-67800921-G-A c.1652C>T p.P551L Missense 2/5 - 1
13-67800923-A-C c.1650T>G p.P550= Synonymous 2/5 - 2
13-67800923-A-G c.1650T>C p.P550= Synonymous 2/5 - 1
13-67800923-A-T c.1650T>A p.P550= Synonymous 2/5 - 1
13-67800925-G-A c.1648C>T p.P550S Missense 2/5 - 1
13-67800929-C-T c.1644G>A p.G548= Synonymous 2/5 - 1
13-67800932-A-G c.1641T>C p.N547= Synonymous 2/5 - 1
13-67800934-T-A c.1639A>T p.N547Y Missense 2/5 - 1
13-67800935-G-A c.1638C>T p.D546= Synonymous 2/5 - 25
13-67800937-C-T c.1636G>A p.D546N Missense 2/5 - 2
13-67800943-C-A c.1630G>T p.A544S Missense 2/5 - 3
13-67800949-C-T c.1624G>A p.V542I Missense 2/5 - 2
13-67800956-A-C c.1617T>G p.I539M Missense 2/5 - 1
13-67800956-A-G c.1617T>C p.I539= Synonymous 2/5 - 1
13-67800956-A-T c.1617T>A p.I539= Synonymous 2/5 - 1
13-67800963-C-T c.1610G>A p.R537Q Missense 2/5 - 4
13-67800964-G-A c.1609C>T p.R537* Nonsense 2/5 - 3
13-67800967-C-A c.1606G>T p.E536* Nonsense 2/5 - 1
13-67800973-C-T c.1600G>A p.E534K Missense 2/5 - 2
13-67800976-C-A c.1597G>T p.E533* Nonsense 2/5 - 2
13-67800976-C-T c.1597G>A p.E533K Missense 2/5 - 5
13-67800978-CT-TG c.1594_1595delinsCA p.R532Q Missense 2/5 - 1
13-67800981-T-A c.1592A>T p.D531V Missense 2/5 - 1
13-67800991-T-C c.1582A>G p.R528G Missense 2/5 - 2
13-67800993-G-A c.1580C>T p.S527F Missense 2/5 - 1
13-67800993-G-T c.1580C>A p.S527Y Missense 2/5 - 1
13-67800996-G-C c.1577C>G p.A526G Missense 2/5 - 3
13-67801001-C-CA c.1571dup p.L524Ffs*8 Frameshift 2/5 - 1
13-67801008-C-T c.1565G>A p.G522E Missense 2/5 - 3
13-67801010-T-A c.1563A>T p.T521= Synonymous 2/5 - 1
13-67801013-T-C c.1560A>G p.K520= Synonymous 2/5 - 1
13-67801015-T-A c.1558A>T p.K520* Nonsense 2/5 - 1
13-67801017-C-T c.1556G>A p.R519Q Missense 2/5 - 2
13-67801018-G-A c.1555C>T p.R519* Nonsense 2/5 - 10
13-67801018-G-T c.1555C>A p.R519= Synonymous 2/5 - 1
13-67801024-G-C c.1549C>G p.L517V Missense 2/5 - 1
13-67801027-C-T c.1546G>A p.D516N Missense 2/5 - 2
13-67801031-G-A c.1542C>T p.F514= Synonymous 2/5 - 1
13-67801032-AAGG-A c.1538_1540del p.S513del InFrameDeletion 2/5 - 1
13-67801037-G-A c.1536C>T p.A512= Synonymous 2/5 - 1
13-67801037-G-C c.1536C>G p.A512= Synonymous 2/5 - 1
13-67801037-G-T c.1536C>A p.A512= Synonymous 2/5 - 1
13-67801038-G-A c.1535C>T p.A512V Missense 2/5 - 2
13-67801043-C-A c.1530G>T p.P510= Synonymous 2/5 - 1
13-67801043-C-G c.1530G>C p.P510= Synonymous 2/5 - 1
13-67801043-C-T c.1530G>A p.P510= Synonymous 2/5 - 1
13-67801044-G-A c.1529C>T p.P510L Missense 2/5 - 1
13-67801047-CC-TT c.1525_1526delinsAA p.G509K Missense 2/5 - 1
13-67801047-C-T c.1526G>A p.G509E Missense 2/5 - 2
13-67801048-C-G c.1525G>C p.G509R Missense 2/5 - 2
13-67801048-C-T c.1525G>A p.G509R Missense 2/5 - 2
13-67801050-A-G c.1523T>C p.L508P Missense 2/5 - 2
13-67801053-T-G c.1520A>C p.Q507P Missense 2/5 - 1
13-67801059-A-G c.1514T>C p.V505A Missense 2/5 - 1
13-67801061-A-C c.1512T>G p.I504M Missense 2/5 - 1
13-67801061-A-T c.1512T>A p.I504= Synonymous 2/5 - 1
13-67801070-CA-C c.1503del p.N501Kfs*24 Frameshift 2/5 - 1
13-67801073-T-A c.1500A>T p.K500N Missense 2/5 - 1
13-67801073-T-G c.1500A>C p.K500N Missense 2/5 - 1
13-67801075-T-C c.1498A>G p.K500E Missense 2/5 - 1
13-67801077-C-G c.1496G>C p.G499A Missense 2/5 - 1
13-67801082-G-C c.1491C>G p.D497E Missense 2/5 - 1
13-67801082-G-T c.1491C>A p.D497E Missense 2/5 - 1
13-67801084-C-A c.1489G>T p.D497Y Missense 2/5 - 1
13-67801087-C-T c.1486G>A p.E496K Missense 2/5 - 1
13-67801088-A-C c.1485T>G p.D495E Missense 2/5 - 1
13-67801088-A-T c.1485T>A p.D495E Missense 2/5 - 1
13-67801090-C-T c.1483G>A p.D495N Missense 2/5 - 4
13-67801094-G-A c.1479C>T p.A493= Synonymous 2/5 - 3
13-67801094-G-C c.1479C>G p.A493= Synonymous 2/5 - 2
13-67801094-G-T c.1479C>A p.A493= Synonymous 2/5 - 2
13-67801103-A-C c.1470T>G p.T490= Synonymous 2/5 - 1
13-67801103-A-G c.1470T>C p.T490= Synonymous 2/5 - 1
13-67801103-A-T c.1470T>A p.T490= Synonymous 2/5 - 1
13-67801110-A-C c.1463T>G p.L488* Nonsense 2/5 - 1
13-67801110-A-G c.1463T>C p.L488S Missense 2/5 - 1
13-67801110-A-T c.1463T>A p.L488* Nonsense 2/5 - 2
13-67801112-G-A c.1461C>T p.Y487= Synonymous 2/5 - 1
13-67801115-T-G c.1458A>C p.L486F Missense 2/5 - 1
13-67801119-C-A c.1454G>T p.G485V Missense 2/5 - 1
13-67801120-C-A c.1453G>T p.G485W Missense 2/5 - 3
13-67801125-C-A c.1448G>T p.R483L Missense 2/5 - 1
13-67801125-C-T c.1448G>A p.R483Q Missense 2/5 - 1
13-67801131-T-C c.1442A>G p.N481S Missense 2/5 - 1
13-67801135-C-T c.1438G>A p.E480K Missense 2/5 - 1
13-67801143-G-A c.1430C>T p.S477L Missense 2/5 - 1
13-67801144-A-T c.1429T>A p.S477T Missense 2/5 - 1
13-67801151-A-G c.1422T>C p.I474= Synonymous 2/5 - 1
13-67801151-A-T c.1422T>A p.I474= Synonymous 2/5 - 1
13-67801154-TAC-CAT c.1417_1419delinsATG p.V473M Missense 2/5 - 1
13-67801161-T-C c.1412A>G p.Q471R Missense 2/5 - 1
13-67801165-T-G c.1408A>C p.N470H Missense 2/5 - 1
13-67801166-G-A c.1407C>T p.F469= Synonymous 2/5 - 3
13-67801167-A-C c.1406T>G p.F469C Missense 2/5 - 1
13-67801171-T-C c.1402A>G p.I468V Missense 2/5 - 2
13-67801172-T-A c.1401A>T p.P467= Synonymous 2/5 - 1
13-67801172-T-C c.1401A>G p.P467= Synonymous 2/5 - 1
13-67801172-T-G c.1401A>C p.P467= Synonymous 2/5 - 1
13-67801173-G-A c.1400C>T p.P467L Missense 2/5 - 1
13-67801176-G-A c.1397C>T p.P466L Missense 2/5 - 1
13-67801177-G-C c.1396C>G p.P466A Missense 2/5 - 1
13-67801183-C-A c.1390G>T p.D464Y Missense 2/5 - 1
13-67801189-C-T c.1384G>A p.E462K Missense 2/5 - 1
13-67801196-A-C c.1377T>G p.L459= Synonymous 2/5 - 1
13-67801196-A-G c.1377T>C p.L459= Synonymous 2/5 - 4
13-67801196-A-T c.1377T>A p.L459= Synonymous 2/5 - 1
13-67801201-T-C c.1372A>G p.K458E Missense 2/5 - 1
13-67801205-C-T c.1368G>A p.R456= Synonymous 2/5 - 1
13-67801207-T-G c.1366A>C p.R456= Synonymous 2/5 - 1
13-67801210-C-A c.1363G>T p.V455L Missense 2/5 - 1
13-67801210-C-G c.1363G>C p.V455L Missense 2/5 - 1
13-67801218-G-T c.1355C>A p.T452N Missense 2/5 - 1
13-67801223-A-T c.1350T>A p.N450K Missense 2/5 - 2
13-67801230-C-T c.1343G>A p.S448N Missense 2/5 - 3
13-67801233-G-T c.1340C>A p.P447H Missense 2/5 - 1
13-67801234-G-A c.1339C>T p.P447S Missense 2/5 - 1
13-67801238-C-A c.1335G>T p.G445= Synonymous 2/5 - 3
13-67801238-C-G c.1335G>C p.G445= Synonymous 2/5 - 3
13-67801238-C-T c.1335G>A p.G445= Synonymous 2/5 - 4
13-67801241-A-C c.1332T>G p.S444= Synonymous 2/5 - 1
13-67801248-GA-AG c.1324_1325delinsCT p.S442L Missense 2/5 - 1
13-67801250-G-A c.1323C>T p.A441= Synonymous 2/5 - 1
13-67801250-G-C c.1323C>G p.A441= Synonymous 2/5 - 1
13-67801250-G-T c.1323C>A p.A441= Synonymous 2/5 - 1
13-67801251-G-T c.1322C>A p.A441D Missense 2/5 - 1
13-67801256-A-G c.1317T>C p.I439= Synonymous 2/5 - 1
13-67801258-T-A c.1315A>T p.I439F Missense 2/5 - 1
13-67801260-T-C c.1313A>G p.K438R Missense 2/5 - 1
13-67801257-AT-A c.1315del p.I439Lfs*11 Frameshift 2/5 - 1
13-67801273-C-A c.1300G>T p.E434* Nonsense 2/5 - 3
13-67801275-T-C c.1298A>G p.K433R Missense 2/5 - 1
13-67801276-T-TA c.1296_1297insT p.K433* Nonsense 2/5 - 1
13-67801277-G-A c.1296C>T p.T432= Synonymous 2/5 - 1
13-67801277-G-C c.1296C>G p.T432= Synonymous 2/5 - 1
13-67801277-G-T c.1296C>A p.T432= Synonymous 2/5 - 2
13-67801278-G-A c.1295C>T p.T432I Missense 2/5 - 6
13-67801278-G-T c.1295C>A p.T432N Missense 2/5 - 3
13-67801282-C-A c.1291G>T p.G431C Missense 2/5 - 4
13-67801283-C-A c.1290G>T p.E430D Missense 2/5 - 1
13-67801285-C-T c.1288G>A p.E430K Missense 2/5 - 4
13-67801289-G-A c.1284C>T p.D428= Synonymous 2/5 - 1
13-67801294-A-G c.1279T>C p.L427= Synonymous 2/5 - 1
13-67801295-C-A c.1278G>T p.L426F Missense 2/5 - 1
13-67801295-C-G c.1278G>C p.L426F Missense 2/5 - 1
13-67801299-G-A c.1274C>T p.S425F Missense 2/5 - 1
13-67801299-GA-CC c.1273_1274delinsGG p.S425G Missense 2/5 - 1
13-67801299-G-T c.1274C>A p.S425Y Missense 2/5 - 2
13-67801305-G-C c.1268C>G p.T423S Missense 2/5 - 2
13-67801306-T-A c.1267A>T p.T423S Missense 2/5 - 2
13-67801307-C-A c.1266G>T p.E422D Missense 2/5 - 1
13-67801307-C-G c.1266G>C p.E422D Missense 2/5 - 1
13-67801317-T-G c.1256A>C p.Y419S Missense 2/5 - 1
13-67801319-T-A c.1254A>T p.Q418H Missense 2/5 - 1
13-67801319-T-G c.1254A>C p.Q418H Missense 2/5 - 1
13-67801321-G-T c.1252C>A p.Q418K Missense 2/5 - 3
13-67801322-G-A c.1251C>T p.N417= Synonymous 2/5 - 1
13-67801333-C-T c.1240G>A p.V414I Missense 2/5 - 1
13-67801334-C-A c.1239G>T p.A413= Synonymous 2/5 - 1
13-67801335-G-A c.1238C>T p.A413V Missense 2/5 - 4
13-67801345-G-A c.1228C>T p.H410Y Missense 2/5 - 5
13-67801350-G-A c.1223C>T p.P408L Missense 2/5 - 3
13-67801352-G-A c.1221C>T p.V407= Synonymous 2/5 - 1
13-67801352-G-C c.1221C>G p.V407= Synonymous 2/5 - 1
13-67801352-G-T c.1221C>A p.V407= Synonymous 2/5 - 1
13-67801363-C-A c.1210G>T p.E404* Nonsense 2/5 - 1
13-67801363-C-T c.1210G>A p.E404K Missense 2/5 - 3
13-67801366-T-C c.1207A>G p.I403V Missense 2/5 - 3
13-67801368-A-C c.1205T>G p.F402C Missense 2/5 - 2
13-67801376-C-A c.1197G>T p.V399= Synonymous 2/5 - 1
13-67801376-C-G c.1197G>C p.V399= Synonymous 2/5 - 1
13-67801376-C-T c.1197G>A p.V399= Synonymous 2/5 - 1
13-67801377-A-G c.1196T>C p.V399A Missense 2/5 - 1
13-67801381-T-C c.1192A>G p.K398E Missense 2/5 - 1
13-67801383-C-T c.1190G>A p.G397D Missense 2/5 - 1
13-67801384-C-A c.1189G>T p.G397C Missense 2/5 - 2
13-67801387-T-C c.1186A>G p.N396D Missense 2/5 - 1
13-67801390-C-T c.1183G>A p.V395M Missense 2/5 - 2
13-67801397-G-T c.1176C>A p.D392E Missense 2/5 - 1
13-67801398-T-C c.1175A>G p.D392G Missense 2/5 - 2
13-67801399-C-T c.1174G>A p.D392N Missense 2/5 - 1
13-67801400-C-A c.1173G>T p.K391N Missense 2/5 - 2
13-67801400-C-G c.1173G>C p.K391N Missense 2/5 - 1
13-67801400-C-T c.1173G>A p.K391= Synonymous 2/5 - 2
13-67801402-T-A c.1171A>T p.K391* Nonsense 2/5 - 2
13-67801412-T-G c.1161A>C p.T387= Synonymous 2/5 - 1
13-67801420-G-A c.1153C>T p.L385= Synonymous 2/5 - 1
13-67801422-G-A c.1151C>T p.A384V Missense 2/5 - 1
13-67801427-C-A c.1146G>T p.K382N Missense 2/5 - 1
13-67801427-C-G c.1146G>C p.K382N Missense 2/5 - 1
13-67801427-C-T c.1146G>A p.K382= Synonymous 2/5 - 1
13-67801429-T-G c.1144A>C p.K382Q Missense 2/5 - 1
13-67801437-A-G c.1136T>C p.V379A Missense 2/5 - 2
13-67801442-A-G c.1131T>C p.D377= Synonymous 2/5 - 1
13-67801444-C-A c.1129G>T p.D377Y Missense 2/5 - 1
13-67801460-C-A c.1113G>T p.V371= Synonymous 2/5 - 2
13-67801460-C-G c.1113G>C p.V371= Synonymous 2/5 - 2
13-67801460-C-T c.1113G>A p.V371= Synonymous 2/5 - 2
13-67801463-G-A c.1110C>T p.T370= Synonymous 2/5 - 1
13-67801463-G-C c.1110C>G p.T370= Synonymous 2/5 - 1
13-67801463-G-T c.1110C>A p.T370= Synonymous 2/5 - 1
13-67801466-G-A c.1107C>T p.G369= Synonymous 2/5 - 1
13-67801471-T-C c.1102A>G p.N368D Missense 2/5 - 1
13-67801473-A-G c.1100T>C p.I367T Missense 2/5 - 1
13-67801474-T-A c.1099A>T p.I367F Missense 2/5 - 1
13-67801477-G-C c.1096C>G p.P366A Missense 2/5 - 1
13-67801478-A-G c.1095T>C p.S365= Synonymous 2/5 - 1
13-67801479-C-A c.1094G>T p.S365I Missense 2/5 - 1
13-67801479-C-T c.1094G>A p.S365N Missense 2/5 - 2
13-67801483-T-C c.1090A>G p.I364V Missense 2/5 - 2
13-67801486-T-C c.1087A>G p.I363V Missense 2/5 - 1
13-67801488-GT-G c.1085del p.Y362Sfs*3 Frameshift 2/5 - 1
13-67801488-T-C c.1085A>G p.Y362C Missense 2/5 - 1
13-67801490-CCT-ACA c.1081_1083delinsTGT p.R361C Missense 2/5 - 1
13-67801490-C-T c.1083G>A p.R361= Synonymous 2/5 - 1
13-67801492-T-G c.1081A>C p.R361= Synonymous 2/5 - 1
13-67801491-C-T c.1082G>A p.R361K Missense 2/5 - 2
13-67801491-CT-TG c.1081_1082delinsCA p.R361Q Missense 2/5 - 1
13-67801493-G-A c.1080C>T p.L360= Synonymous 2/5 - 1
13-67801495-G-T c.1078C>A p.L360I Missense 2/5 - 1
13-67801497-T-C c.1076A>G p.D359G Missense 2/5 - 1
13-67801506-G-A c.1067C>T p.P356L Missense 2/5 - 2
13-67801507-G-A c.1066C>T p.P356S Missense 2/5 - 1
13-67801516-C-T c.1057G>A p.D353N Missense 2/5 - 7
13-67801521-A-G c.1052T>C p.V351A Missense 2/5 - 3
13-67801522-C-G c.1051G>C p.V351L Missense 2/5 - 1
13-67801523-A-G c.1050T>C p.D350= Synonymous 2/5 - 1
13-67801524-T-C c.1049A>G p.D350G Missense 2/5 - 1
13-67801525-C-T c.1048G>A p.D350N Missense 2/5 - 1
13-67801527-G-T c.1046C>A p.T349N Missense 2/5 - 1
13-67801528-T-C c.1045A>G p.T349A Missense 2/5 - 1
13-67801529-G-A c.1044C>T p.V348= Synonymous 2/5 - 1
13-67801529-GAC-CAT c.1042_1044delinsATG p.V348M Missense 2/5 - 1
13-67801529-G-C c.1044C>G p.V348= Synonymous 2/5 - 1
13-67801529-G-T c.1044C>A p.V348= Synonymous 2/5 - 1
13-67801530-A-C c.1043T>G p.V348G Missense 2/5 - 1
13-67801532-A-G c.1041T>C p.N347= Synonymous 2/5 - 4
13-67801543-C-T c.1030G>A p.V344I Missense 2/5 - 1
13-67801545-G-A c.1028C>T p.T343M Missense 2/5 - 4
13-67801548-G-C c.1025C>G p.A342G Missense 2/5 - 1
13-67801552-G-A c.1021C>T p.R341* Nonsense 2/5 - 1
13-67801558-G-A c.1015C>T p.P339S Missense 2/5 - 1
13-67801560-G-A c.1013C>T p.T338I Missense 2/5 - 1
13-67801563-G-A c.1010C>T p.S337F Missense 2/5 - 1
13-67801565-G-C c.1008C>G p.S336R Missense 2/5 - 1
13-67801565-G-T c.1008C>A p.S336R Missense 2/5 - 1
13-67801567-T-G c.1006A>C p.S336R Missense 2/5 - 1
13-67801570-C-A c.1003G>T p.G335C Missense 2/5 - 2
13-67801575-CT-AA c.997_998delinsTT p.S333F Missense 2/5 - 1
13-67801576-T-A c.997A>T p.S333C Missense 2/5 - 1
13-67801583-C-A c.990G>T p.V330= Synonymous 2/5 - 1
13-67801584-A-G c.989T>C p.V330A Missense 2/5 - 1
13-67801586-T-A c.987A>T p.T329= Synonymous 2/5 - 1
13-67801586-T-C c.987A>G p.T329= Synonymous 2/5 - 1
13-67801586-T-G c.987A>C p.T329= Synonymous 2/5 - 1
13-67801587-G-A c.986C>T p.T329I Missense 2/5 - 1
13-67801589-C-A c.984G>T p.V328= Synonymous 2/5 - 1
13-67801597-G-A c.976C>T p.H326Y Missense 2/5 - 4
13-67801600-T-A c.973A>T p.I325F Missense 2/5 - 2
13-67801602-G-A c.971C>T p.A324V Missense 2/5 - 3
13-67801603-C-A c.970G>T p.A324S Missense 2/5 - 1
13-67801609-C-T c.964G>A p.E322K Missense 2/5 - 1
13-67801610-C-T c.963G>A p.E321= Synonymous 2/5 - 1
13-67801613-T-C c.960A>G p.R320= Synonymous 2/5 - 2
13-67801615-T-G c.958A>C p.R320= Synonymous 2/5 - 1
13-67801614-C-G c.959G>C p.R320T Missense 2/5 - 1
13-67801616-A-G c.957T>C p.D319= Synonymous 2/5 - 1
13-67801617-T-C c.956A>G p.D319G Missense 2/5 - 1
13-67801619-T-A c.954A>T p.L318F Missense 2/5 - 2
13-67801619-T-G c.954A>C p.L318F Missense 2/5 - 3
13-67801621-A-C c.952T>G p.L318V Missense 2/5 - 1
13-67801621-A-T c.952T>A p.L318I Missense 2/5 - 1
13-67801622-G-A c.951C>T p.S317= Synonymous 2/5 - 1
13-67801630-G-T c.943C>A p.Q315K Missense 2/5 - 1
13-67801637-A-T c.936T>A p.I312= Synonymous 2/5 - 1
13-67801639-T-C c.934A>G p.I312V Missense 2/5 - 1
13-67801640-C-A c.933G>T p.L311= Synonymous 2/5 - 1
13-67801643-C-A c.930G>T p.G310= Synonymous 2/5 - 1
13-67801643-C-G c.930G>C p.G310= Synonymous 2/5 - 1
13-67801643-C-T c.930G>A p.G310= Synonymous 2/5 - 2
13-67801644-C-T c.929G>A p.G310E Missense 2/5 - 1
13-67801646-A-C c.927T>G p.T309= Synonymous 2/5 - 2
13-67801646-A-G c.927T>C p.T309= Synonymous 2/5 - 2
13-67801646-A-T c.927T>A p.T309= Synonymous 2/5 - 3
13-67801649-A-G c.924T>C p.T308= Synonymous 2/5 - 1
13-67801649-A-T c.924T>A p.T308= Synonymous 2/5 - 1
13-67801653-T-C c.920A>G p.N307S Missense 2/5 - 1
13-67801655-A-C c.918T>G p.N306K Missense 2/5 - 1
13-67801655-A-T c.918T>A p.N306K Missense 2/5 - 1
13-67801658-T-A c.915A>T p.L305F Missense 2/5 - 1
13-67801658-T-G c.915A>C p.L305F Missense 2/5 - 1
13-67801663-CAA-C c.908_909del p.F303Cfs*4 Frameshift 2/5 - 1
13-67801665-A-ATT c.907_908insAA p.F303* Nonsense 2/5 - 1
13-67801668-A-T c.905T>A p.L302H Missense 2/5 - 1
13-67801669-G-A c.904C>T p.L302F Missense 2/5 - 1
13-67801672-T-C c.901A>G p.R301G Missense 2/5 - 2
13-67801675-T-C c.898A>G p.K300E Missense 2/5 - 1
13-67801676-G-A c.897C>T p.T299= Synonymous 2/5 - 1
13-67801678-T-C c.895A>G p.T299A Missense 2/5 - 2
13-67801679-T-C c.894A>G p.A298= Synonymous 2/5 - 1
13-67801686-G-A c.887C>T p.A296V Missense 2/5 - 1
13-67801687-C-T c.886G>A p.A296T Missense 2/5 - 2
13-67801688-G-A c.885C>T p.V295= Synonymous 2/5 - 4
13-67801688-G-C c.885C>G p.V295= Synonymous 2/5 - 1
13-67801688-G-T c.885C>A p.V295= Synonymous 2/5 - 1
13-67801690-C-G c.883G>C p.V295L Missense 2/5 - 1
13-67801692-T-C c.881A>G p.Q294R Missense 2/5 - 1
13-67801695-G-T c.878C>A p.A293D Missense 2/5 - 1
13-67801696-C-T c.877G>A p.A293T Missense 2/5 - 2
13-67801702-A-C c.871T>G p.F291V Missense 2/5 - 1
13-67801699-CA-C c.873del p.F291Lfs*15 Frameshift 2/5 - 1
13-67801706-G-T c.867C>A p.Y289* Nonsense 2/5 - 1
13-67801707-T-A c.866A>T p.Y289F Missense 2/5 - 1
13-67801707-T-C c.866A>G p.Y289C Missense 2/5 - 1
13-67801710-C-T c.863G>A p.R288Q Missense 2/5 - 2
13-67801711-G-A c.862C>T p.R288W Missense 2/5 - 3
13-67801713-A-G c.860T>C p.I287T Missense 2/5 - 1
13-67801717-C-G c.856G>C p.E286Q Missense 2/5 - 1
13-67801717-C-T c.856G>A p.E286K Missense 2/5 - 1
13-67801721-A-G c.852T>C p.N284= Synonymous 2/5 - 2
13-67801725-C-A c.848G>T p.S283I Missense 2/5 - 1
13-67801734-T-C c.839A>G p.D280G Missense 2/5 - 1
13-67801735-C-G c.838G>C p.D280H Missense 2/5 - 1
13-67801737-G-A c.836C>T p.A279V Missense 2/5 - 1
13-67801741-C-T c.832G>A p.D278N Missense 2/5 - 1
13-67801761-A-G c.812T>C p.V271A Missense 2/5 - 1
13-67801764-G-A c.809C>T p.S270F Missense 2/5 - 3
13-67801764-G-C c.809C>G p.S270C Missense 2/5 - 1
13-67801768-T-C c.805A>G p.T269A Missense 2/5 - 1
13-67801769-A-C c.804T>G p.G268= Synonymous 2/5 - 1
13-67801769-A-G c.804T>C p.G268= Synonymous 2/5 - 1
13-67801769-A-T c.804T>A p.G268= Synonymous 2/5 - 1
13-67801770-C-T c.803G>A p.G268D Missense 2/5 - 1
13-67801769-AC-A c.803del p.G268Vfs*4 Frameshift 2/5 - 1
13-67801771-C-A c.802G>T p.G268C Missense 2/5 - 1
13-67801771-C-G c.802G>C p.G268R Missense 2/5 - 4
13-67801772-T-A c.801A>T p.V267= Synonymous 2/5 - 1
13-67801775-G-A c.798C>T p.P266= Synonymous 2/5 - 2
13-67801775-G-C c.798C>G p.P266= Synonymous 2/5 - 4
13-67801775-G-T c.798C>A p.P266= Synonymous 2/5 - 1
13-67801776-G-A c.797C>T p.P266L Missense 2/5 - 1
13-67801777-G-A c.796C>T p.P266S Missense 2/5 - 4
13-67801779-G-A c.794C>T p.A265V Missense 2/5 - 2
13-67801781-A-T c.792T>A p.N264K Missense 2/5 - 1
13-67801783-T-A c.790A>T p.N264Y Missense 2/5 - 1
13-67801784-C-A c.789G>T p.E263D Missense 2/5 - 1
13-67801784-C-G c.789G>C p.E263D Missense 2/5 - 1
13-67801788-G-A c.785C>T p.P262L Missense 2/5 - 1
13-67801793-A-G c.780T>C p.H260= Synonymous 2/5 - 1
13-67801795-G-T c.778C>A p.H260N Missense 2/5 - 1
13-67801795-TG-T c.778del p.H260Ifs*8 Frameshift 2/5 - 1
13-67801796-C-G c.777G>C p.V259= Synonymous 2/5 - 1
13-67801798-C-T c.775G>A p.V259M Missense 2/5 - 2
13-67801801-C-T c.772G>A p.E258K Missense 2/5 - 2
13-67801805-T-C c.768A>G p.Q256= Synonymous 2/5 - 2
13-67801805-T-G c.768A>C p.Q256H Missense 2/5 - 2
13-67801807-G-A c.766C>T p.Q256* Nonsense 2/5 - 3
13-67801808-A-G c.765T>C p.G255= Synonymous 2/5 - 1
13-67801811-C-A c.762G>T p.E254D Missense 2/5 - 1
13-67801818-A-T c.755T>A p.F252Y Missense 2/5 - 1
13-67801824-G-A c.749C>T p.P250L Missense 2/5 - 1
13-67801825-G-T c.748C>A p.P250T Missense 2/5 - 1
13-67801826-C-A c.747G>T p.R249S Missense 2/5 - 1
13-67801826-C-T c.747G>A p.R249= Synonymous 2/5 - 2
13-67801828-T-G c.745A>C p.R249= Synonymous 2/5 - 2
13-67801832-G-T c.741C>A p.D247E Missense 2/5 - 1
13-67801833-T-A c.740A>T p.D247V Missense 2/5 - 1
13-67801837-T-C c.736A>G p.N246D Missense 2/5 - 3
13-67801838-T-G c.735A>C p.V245= Synonymous 2/5 - 1
13-67801843-C-A c.730G>T p.D244Y Missense 2/5 - 3
13-67801847-TAC-CAT c.724_726delinsATG p.V242M Missense 2/5 - 1
13-67801848-A-C c.725T>G p.V242G Missense 2/5 - 1
13-67801868-C-A c.705G>T p.T235= Synonymous 2/5 - 1
13-67801868-C-G c.705G>C p.T235= Synonymous 2/5 - 1
13-67801868-C-T c.705G>A p.T235= Synonymous 2/5 - 2
13-67801869-G-A c.704C>T p.T235M Missense 2/5 - 1
13-67801872-C-A c.701G>T p.S234I Missense 2/5 - 1
13-67801872-CT-GG c.700_701delinsCC p.S234P Missense 2/5 - 2
13-67801875-G-T c.698C>A p.S233Y Missense 2/5 - 1
13-67801880-C-A c.693G>T p.Q231H Missense 2/5 - 6
13-67801880-C-G c.693G>C p.Q231H Missense 2/5 - 4
13-67801880-C-T c.693G>A p.Q231= Synonymous 2/5 - 2
13-67801881-T-A c.692A>T p.Q231L Missense 2/5 - 1
13-67801892-T-C c.681A>G p.G227= Synonymous 2/5 - 1
13-67801897-C-T c.676G>A p.D226N Missense 2/5 - 1
13-67801901-T-C c.672A>G p.V224= Synonymous 2/5 - 1
13-67801906-T-C c.667A>G p.K223E Missense 2/5 - 1
13-67801911-T-A c.662A>T p.K221I Missense 2/5 - 1
13-67801921-A-G c.652T>C p.Y218H Missense 2/5 - 4
13-67801923-G-T c.650C>A p.T217N Missense 2/5 - 4
13-67801927-C-A c.646G>T p.D216Y Missense 2/5 - 1
13-67801927-C-T c.646G>A p.D216N Missense 2/5 - 3
13-67801928-T-C c.645A>G p.K215= Synonymous 2/5 - 1
13-67801930-T-C c.643A>G p.K215E Missense 2/5 - 1
13-67801931-C-T c.642G>A p.Q214= Synonymous 2/5 - 1
13-67801933-G-C c.640C>G p.Q214E Missense 2/5 - 1
13-67801933-G-T c.640C>A p.Q214K Missense 2/5 - 1
13-67801934-T-A c.639A>T p.E213D Missense 2/5 - 1
13-67801934-T-G c.639A>C p.E213D Missense 2/5 - 1
13-67801937-TCT-ACA c.634_636delinsTGT p.R212C Missense 2/5 - 1
13-67801938-C-T c.635G>A p.R212K Missense 2/5 - 1
13-67801939-T-A c.634A>T p.R212* Nonsense 2/5 - 2
13-67801941-AT-A c.632del p.D211Vfs*9 Frameshift 2/5 - 1
13-67801942-C-T c.631G>A p.D211N Missense 2/5 - 2
13-67801945-A-G c.628T>C p.L210= Synonymous 2/5 - 1
13-67801948-T-C c.625A>G p.N209D Missense 2/5 - 3
13-67801948-T-G c.625A>C p.N209H Missense 2/5 - 1
13-67801954-G-A c.619C>T p.Q207* Nonsense 2/5 - 1
13-67801959-A-T c.614T>A p.I205N Missense 2/5 - 1
13-67801961-C-A c.612G>T p.L204= Synonymous 2/5 - 1
13-67801961-C-G c.612G>C p.L204= Synonymous 2/5 - 1
13-67801961-C-T c.612G>A p.L204= Synonymous 2/5 - 2
13-67801963-G-A c.610C>T p.L204= Synonymous 2/5 - 1
13-67801975-T-C c.598A>G p.K200E Missense 2/5 - 1
13-67801976-C-A c.597G>T p.E199D Missense 2/5 - 2
13-67801976-C-G c.597G>C p.E199D Missense 2/5 - 1
13-67801976-C-T c.597G>A p.E199= Synonymous 2/5 - 1
13-67801977-T-C c.596A>G p.E199G Missense 2/5 - 1
13-67801978-C-A c.595G>T p.E199* Nonsense 2/5 - 1
13-67801979-T-A c.594A>T p.G198= Synonymous 2/5 - 1
13-67801979-T-C c.594A>G p.G198= Synonymous 2/5 - 1
13-67801979-T-G c.594A>C p.G198= Synonymous 2/5 - 1
13-67801984-C-G c.589G>C p.E197Q Missense 2/5 - 1
13-67801985-T-A c.588A>T p.P196= Synonymous 2/5 - 1
13-67801985-T-C c.588A>G p.P196= Synonymous 2/5 - 2
13-67801985-T-G c.588A>C p.P196= Synonymous 2/5 - 1
13-67801986-G-A c.587C>T p.P196L Missense 2/5 - 1
13-67801988-A-G c.585T>C p.T195= Synonymous 2/5 - 1
13-67801990-T-C c.583A>G p.T195A Missense 2/5 - 1
13-67801990-T-G c.583A>C p.T195P Missense 2/5 - 2
13-67801993-C-T c.580G>A p.E194K Missense 2/5 - 1
13-67801994-CAC-GAT c.577_579delinsATC p.V193I Missense 2/5 - 1
13-67801996-C-G c.577G>C p.V193L Missense 2/5 - 1
13-67801997-G-A c.576C>T p.I192= Synonymous 2/5 - 6
13-67801997-G-T c.576C>A p.I192= Synonymous 2/5 - 2
13-67802002-C-T c.571G>A p.D191N Missense 2/5 - 1
13-67802003-C-G c.570G>C p.L190= Synonymous 2/5 - 1
13-67802004-A-T c.569T>A p.L190Q Missense 2/5 - 2
13-67802007-C-T c.566G>A p.G189E Missense 2/5 - 1
13-67802014-C-A c.559G>T p.V187F Missense 2/5 - 1
13-67802016-C-G c.557G>C p.S186T Missense 2/5 - 2
13-67802018-C-A c.555G>T p.Q185H Missense 2/5 - 2
13-67802018-C-G c.555G>C p.Q185H Missense 2/5 - 3
13-67802021-C-T c.552G>A p.G184= Synonymous 2/5 - 1
13-67802023-C-A c.550G>T p.G184W Missense 2/5 - 2
13-67802023-C-G c.550G>C p.G184R Missense 2/5 - 1
13-67802023-C-T c.550G>A p.G184R Missense 2/5 - 1
13-67802033-T-C c.540A>G p.E180= Synonymous 2/5 - 2
13-67802035-C-T c.538G>A p.E180K Missense 2/5 - 3
13-67802037-T-C c.536A>G p.Y179C Missense 2/5 - 1
13-67802046-A-G c.527T>C p.V176A Missense 2/5 - 1
13-67802047-C-A c.526G>T p.V176L Missense 2/5 - 6
13-67802047-C-G c.526G>C p.V176L Missense 2/5 - 4
13-67802051-A-G c.522T>C p.N174= Synonymous 2/5 - 1
13-67802052-T-G c.521A>C p.N174T Missense 2/5 - 1
13-67802055-A-T c.518T>A p.F173Y Missense 2/5 - 1
13-67802058-C-A c.515G>T p.G172V Missense 2/5 - 1
13-67802058-C-T c.515G>A p.G172D Missense 2/5 - 1
13-67802059-C-A c.514G>T p.G172C Missense 2/5 - 1
13-67802059-C-T c.514G>A p.G172S Missense 2/5 - 1
13-67802060-T-A c.513A>T p.T171= Synonymous 2/5 - 1
13-67802060-T-C c.513A>G p.T171= Synonymous 2/5 - 1
13-67802060-T-G c.513A>C p.T171= Synonymous 2/5 - 1
13-67802061-G-T c.512C>A p.T171K Missense 2/5 - 1
13-67802062-T-C c.511A>G p.T171A Missense 2/5 - 1
13-67802079-G-A c.494C>T p.S165L Missense 2/5 - 1
13-67802077-CTGA-C c.493_495del p.S165del InFrameDeletion 2/5 - 1
13-67802083-G-T c.490C>A p.P164T Missense 2/5 - 1
13-67802084-A-G c.489T>C p.I163= Synonymous 2/5 - 1
13-67802089-G-T c.484C>A p.P162T Missense 2/5 - 2
13-67802090-A-C c.483T>G p.F161L Missense 2/5 - 1
13-67802090-A-T c.483T>A p.F161L Missense 2/5 - 1
13-67802092-A-G c.481T>C p.F161L Missense 2/5 - 1
13-67802094-C-T c.479G>A p.R160H Missense 2/5 - 1
13-67802095-G-A c.478C>T p.R160C Missense 2/5 - 1
13-67802096-G-A c.477C>T p.S159= Synonymous 2/5 - 1
13-67802097-C-G c.476G>C p.S159T Missense 2/5 - 1
13-67802100-T-G c.473A>C p.N158T Missense 2/5 - 1
13-67802101-T-TA c.471_472insT p.N158* Nonsense 2/5 - 1
13-67802108-AG-CA c.464_465delinsTG p.T155M Missense 2/5 - 1
13-67802111-G-A c.462C>T p.N154= Synonymous 2/5 - 1
13-67802114-T-C c.459A>G p.E153= Synonymous 2/5 - 1
13-67802118-G-A c.455C>T p.P152L Missense 2/5 - 3
13-67802119-G-A c.454C>T p.P152S Missense 2/5 - 1
13-67802120-A-G c.453T>C p.I151= Synonymous 2/5 - 1
13-67802121-A-T c.452T>A p.I151N Missense 2/5 - 4
13-67802123-G-A c.450C>T p.S150= Synonymous 2/5 - 1
13-67802124-G-A c.449C>T p.S150F Missense 2/5 - 1
13-67802127-A-T c.446T>A p.I149N Missense 2/5 - 2
13-67802120-AATGGAAATATTGATGACAGGAG-A c.431_452del p.S144Ffs*6 Frameshift 2/5 - 1
13-67802132-G-A c.441C>T p.I147= Synonymous 2/5 - 1
13-67802132-G-T c.441C>A p.I147= Synonymous 2/5 - 1
13-67802137-C-T c.436G>A p.V146I Missense 2/5 - 1
13-67802142-G-A c.431C>T p.S144F Missense 2/5 - 4
13-67802144-T-A c.429A>T p.P143= Synonymous 2/5 - 1
13-67802144-T-C c.429A>G p.P143= Synonymous 2/5 - 2
13-67802144-T-G c.429A>C p.P143= Synonymous 2/5 - 1
13-67802145-G-T c.428C>A p.P143Q Missense 2/5 - 1
13-67802150-C-CTTTTTTT c.422_423insAAAAAAA p.M141Ifs*32 Frameshift 2/5 - 1
13-67802152-T-A c.421A>T p.M141L Missense 2/5 - 1
13-67802153-G-A c.420C>T p.P140= Synonymous 2/5 - 1
13-67802155-G-A c.418C>T p.P140S Missense 2/5 - 2
13-67802156-G-A c.417C>T p.A139= Synonymous 2/5 - 2
13-67802157-G-C c.416C>G p.A139G Missense 2/5 - 1
13-67802158-C-A c.415G>T p.A139S Missense 2/5 - 2
13-67802158-C-T c.415G>A p.A139T Missense 2/5 - 1
13-67802164-C-T c.409G>A p.D137N Missense 2/5 - 1
13-67802166-T-C c.407A>G p.N136S Missense 2/5 - 1
13-67802169-G-A c.404C>T p.T135I Missense 2/5 - 2
13-67802169-G-C c.404C>G p.T135S Missense 2/5 - 1
13-67802170-T-A c.403A>T p.T135S Missense 2/5 - 1
13-67802173-C-T c.400G>A p.D134N Missense 2/5 - 4
13-67802174-C-A c.399G>T p.K133N Missense 2/5 - 2
13-67802174-C-G c.399G>C p.K133N Missense 2/5 - 2
13-67802178-A-T c.395T>A p.V132D Missense 2/5 - 1
13-67802179-C-A c.394G>T p.V132F Missense 2/5 - 2
13-67802181-A-T c.392T>A p.I131N Missense 2/5 - 1
13-67802183-T-G c.390A>C p.I130= Synonymous 2/5 - 1
13-67802186-T-C c.387A>G p.K129= Synonymous 2/5 - 1
13-67802188-T-G c.385A>C p.K129Q Missense 2/5 - 1
13-67802189-T-C c.384A>G p.I128M Missense 2/5 - 2
13-67802197-T-C c.376A>G p.I126V Missense 2/5 - 1
13-67802197-T-G c.376A>C p.I126L Missense 2/5 - 1
13-67802198-C-A c.375G>T p.L125= Synonymous 2/5 - 2
13-67802198-C-G c.375G>C p.L125= Synonymous 2/5 - 2
13-67802198-C-T c.375G>A p.L125= Synonymous 2/5 - 2
13-67802199-A-T c.374T>A p.L125Q Missense 2/5 - 1
13-67802200-G-A c.373C>T p.L125= Synonymous 2/5 - 3
13-67802202-C-A c.371G>T p.R124M Missense 2/5 - 2
13-67802205-AA-GC c.367_368delinsGC p.F123A Missense 2/5 - 1
13-67802212-C-A c.361G>T p.D121Y Missense 2/5 - 2
13-67802213-A-G c.360T>C p.N120= Synonymous 2/5 - 1
13-67802216-G-A c.357C>T p.P119= Synonymous 2/5 - 2
13-67802216-G-C c.357C>G p.P119= Synonymous 2/5 - 1
13-67802216-G-T c.357C>A p.P119= Synonymous 2/5 - 1
13-67802221-G-A c.352C>T p.L118F Missense 2/5 - 1
13-67802222-G-T c.351C>A p.I117= Synonymous 2/5 - 1
13-67802225-C-A c.348G>T p.V116= Synonymous 2/5 - 1
13-67802225-C-G c.348G>C p.V116= Synonymous 2/5 - 1
13-67802225-C-T c.348G>A p.V116= Synonymous 2/5 - 1
13-67802227-ACCACCTC-A c.340_346del p.E114* Frameshift 2/5 - 1
13-67802228-C-A c.345G>T p.V115= Synonymous 2/5 - 2
13-67802228-CAC-GAT c.343_345delinsATC p.V115I Missense 2/5 - 1
13-67802228-C-G c.345G>C p.V115= Synonymous 2/5 - 2
13-67802228-C-T c.345G>A p.V115= Synonymous 2/5 - 2
13-67802229-A-C c.344T>G p.V115G Missense 2/5 - 1
13-67802229-AC-CT c.343_344delinsAG p.V115R Missense 2/5 - 1
13-67802230-C-A c.343G>T p.V115L Missense 2/5 - 2
13-67802230-C-G c.343G>C p.V115L Missense 2/5 - 2
13-67802231-C-T c.342G>A p.E114= Synonymous 2/5 - 1
13-67802233-C-G c.340G>C p.E114Q Missense 2/5 - 1
13-67802233-C-CA c.339dup p.E114* Nonsense 2/5 - 1
13-67802240-A-C c.333T>G p.F111L Missense 2/5 - 1
13-67802240-A-T c.333T>A p.F111L Missense 2/5 - 1
13-67802242-A-C c.331T>G p.F111V Missense 2/5 - 1
13-67802242-A-G c.331T>C p.F111L Missense 2/5 - 1
13-67802243-G-C c.330C>G p.F110L Missense 2/5 - 2
13-67802243-G-T c.330C>A p.F110L Missense 2/5 - 2
13-67802245-A-G c.328T>C p.F110L Missense 2/5 - 2
13-67802248-A-C c.325T>G p.C109G Missense 2/5 - 1
13-67802251-C-A c.322G>T p.E108* Nonsense 2/5 - 1
13-67802251-C-T c.322G>A p.E108K Missense 2/5 - 1
13-67802256-T-C c.317A>G p.E106G Missense 2/5 - 3
13-67802257-C-G c.316G>C p.E106Q Missense 2/5 - 2
13-67802257-C-T c.316G>A p.E106K Missense 2/5 - 1
13-67802265-T-C c.308A>G p.Y103C Missense 2/5 - 1
13-67802266-A-G c.307T>C p.Y103H Missense 2/5 - 1
13-67802269-A-G c.304T>C p.S102P Missense 2/5 - 3
13-67802272-C-A c.301G>T p.A101S Missense 2/5 - 1
13-67802273-G-A c.300C>T p.G100= Synonymous 2/5 - 2
13-67802273-G-C c.300C>G p.G100= Synonymous 2/5 - 1
13-67802273-G-T c.300C>A p.G100= Synonymous 2/5 - 1
13-67802274-C-A c.299G>T p.G100V Missense 2/5 - 1
13-67802275-C-A c.298G>T p.G100C Missense 2/5 - 1
13-67802277-G-T c.296C>A p.A99D Missense 2/5 - 1
13-67802277-GCA-G c.294_295del p.A99Wfs*6 Frameshift 2/5 - 1
13-67802280-C-A c.293G>T p.C98F Missense 2/5 - 2
13-67802282-G-C c.291C>G p.L97= Synonymous 2/5 - 1
13-67802288-T-C c.285A>G p.E95= Synonymous 2/5 - 3
13-67802290-C-T c.283G>A p.E95K Missense 2/5 - 3
13-67802292-C-T c.281G>A p.R94K Missense 2/5 - 1
13-67802294-G-T c.279C>A p.D93E Missense 2/5 - 1
13-67802301-CT-TG c.271_272delinsCA p.R91Q Missense 2/5 - 1
13-67802307-G-C c.266C>G p.S89C Missense 2/5 - 1
13-67802309-G-A c.264C>T p.T88= Synonymous 2/5 - 1
13-67802310-G-T c.263C>A p.T88N Missense 2/5 - 1
13-67802315-G-A c.258C>T p.F86= Synonymous 2/5 - 1
13-67802318-A-C c.255T>G p.I85M Missense 2/5 - 2
13-67802318-A-T c.255T>A p.I85= Synonymous 2/5 - 2
13-67802319-A-C c.254T>G p.I85S Missense 2/5 - 4
13-67802320-T-A c.253A>T p.I85F Missense 2/5 - 1
13-67802320-T-G c.253A>C p.I85L Missense 2/5 - 1
13-67802321-T-A c.252A>T p.E84D Missense 2/5 - 1
13-67802321-T-G c.252A>C p.E84D Missense 2/5 - 1
13-67802323-C-G c.250G>C p.E84Q Missense 2/5 - 1
13-67802323-C-T c.250G>A p.E84K Missense 2/5 - 1
13-67802324-C-T c.249G>A p.G83= Synonymous 2/5 - 2
13-67802327-A-C c.246T>G p.T82= Synonymous 2/5 - 1
13-67802327-A-G c.246T>C p.T82= Synonymous 2/5 - 1
13-67802327-A-T c.246T>A p.T82= Synonymous 2/5 - 1
13-67802330-G-C c.243C>G p.S81R Missense 2/5 - 1
13-67802330-G-T c.243C>A p.S81R Missense 2/5 - 1
13-67802332-T-G c.241A>C p.S81R Missense 2/5 - 1
13-67802334-C-G c.239G>C p.S80T Missense 2/5 - 1
13-67802336-G-A c.237C>T p.S79= Synonymous 2/5 - 3
13-67802336-G-C c.237C>G p.S79= Synonymous 2/5 - 2
13-67802336-G-T c.237C>A p.S79= Synonymous 2/5 - 2
13-67802337-G-A c.236C>T p.S79F Missense 2/5 - 2
13-67802339-A-C c.234T>G p.V78= Synonymous 2/5 - 1
13-67802339-A-G c.234T>C p.V78= Synonymous 2/5 - 1
13-67802339-A-T c.234T>A p.V78= Synonymous 2/5 - 26
13-67802337-GA-G c.235del p.S79Pfs*14 Frameshift 2/5 - 5
13-67802342-T-A c.231A>T p.K77N Missense 2/5 - 1
13-67802342-T-G c.231A>C p.K77N Missense 2/5 - 1
13-67802344-T-C c.229A>G p.K77E Missense 2/5 - 2
13-67802345-C-T c.228G>A p.V76= Synonymous 2/5 - 2
13-67802348-C-T c.225G>A p.L75= Synonymous 2/5 - 2
13-67802350-A-G c.223T>C p.L75= Synonymous 2/5 - 1
13-67802352-G-A c.221C>T p.P74L Missense 2/5 - 1
13-67802352-G-C c.221C>G p.P74R Missense 2/5 - 1
13-67802354-G-A c.219C>T p.A73= Synonymous 2/5 - 1
13-67802354-G-C c.219C>G p.A73= Synonymous 2/5 - 1
13-67802354-G-T c.219C>A p.A73= Synonymous 2/5 - 1
13-67802356-C-G c.217G>C p.A73P Missense 2/5 - 1
13-67802358-T-A c.215A>T p.D72V Missense 2/5 - 2
13-67802359-C-A c.214G>T p.D72Y Missense 2/5 - 1
13-67802360-C-A c.213G>T p.G71= Synonymous 2/5 - 2
13-67802360-C-G c.213G>C p.G71= Synonymous 2/5 - 1
13-67802360-C-T c.213G>A p.G71= Synonymous 2/5 - 1
13-67802361-C-A c.212G>T p.G71V Missense 2/5 - 1
13-67802367-T-C c.206A>G p.K69R Missense 2/5 - 1
13-67802373-A-C c.200T>G p.V67G Missense 2/5 - 1
13-67802374-C-G c.199G>C p.V67L Missense 2/5 - 1
13-67802376-A-C c.197T>G p.L66R Missense 2/5 - 1
13-67802379-C-T c.194G>A p.R65K Missense 2/5 - 2
13-67802380-T-A c.193A>T p.R65* Nonsense 2/5 - 1
13-67802380-T-G c.193A>C p.R65= Synonymous 2/5 - 1
13-67802384-G-A c.189C>T p.V63= Synonymous 2/5 - 1
13-67802384-G-C c.189C>G p.V63= Synonymous 2/5 - 1
13-67802384-G-T c.189C>A p.V63= Synonymous 2/5 - 1
13-67802392-T-G c.181A>C p.S61R Missense 2/5 - 1
13-67802393-G-A c.180C>T p.A60= Synonymous 2/5 - 1
13-67802394-G-A c.179C>T p.A60V Missense 2/5 - 4
13-67802395-C-T c.178G>A p.A60T Missense 2/5 - 1
13-67802399-G-A c.174C>T p.T58= Synonymous 2/5 - 1
13-67802399-G-C c.174C>G p.T58= Synonymous 2/5 - 2
13-67802399-G-T c.174C>A p.T58= Synonymous 2/5 - 1
13-67802402-C-A c.171G>T p.G57= Synonymous 2/5 - 1
13-67802402-C-G c.171G>C p.G57= Synonymous 2/5 - 1
13-67802402-C-T c.171G>A p.G57= Synonymous 2/5 - 3
13-67802403-C-G c.170G>C p.G57A Missense 2/5 - 1
13-67802403-C-T c.170G>A p.G57E Missense 2/5 - 1
13-67802409-G-T c.164C>A p.A55D Missense 2/5 - 1
13-67802410-C-T c.163G>A p.A55T Missense 2/5 - 3
13-67802412-G-A c.161C>T p.A54V Missense 2/5 - 4
13-67802415-T-C c.158A>G p.N53S Missense 2/5 - 2
13-67802417-G-T c.156C>A p.I52= Synonymous 2/5 - 1
13-67802422-G-T c.151C>A p.H51N Missense 2/5 - 3
13-67802424-G-A c.149C>T p.S50F Missense 2/5 - 1
13-67802424-G-T c.149C>A p.S50Y Missense 2/5 - 2
13-67802431-T-A c.142A>T p.N48Y Missense 2/5 - 1
13-67802435-A-G c.138T>C p.D46= Synonymous 2/5 - 2
13-67802442-G-T c.131C>A p.P44Q Missense 2/5 - 2
13-67802443-G-C c.130C>G p.P44A Missense 2/5 - 1
13-67802447-G-A c.126C>T p.N42= Synonymous 2/5 - 2
13-67802449-T-A c.124A>T p.N42Y Missense 2/5 - 1
13-67802450-T-A c.123A>T p.G41= Synonymous 2/5 - 1
13-67802452-C-A c.121G>T p.G41* Nonsense 2/5 - 1
13-67802454-A-G c.119T>C p.I40T Missense 2/5 - 1
13-67802455-T-G c.118A>C p.I40L Missense 2/5 - 1
13-67802457-G-A c.116C>T p.P39L Missense 2/5 - 1
13-67802459-C-A c.114G>T p.V38= Synonymous 2/5 - 2
13-67802459-C-G c.114G>C p.V38= Synonymous 2/5 - 1
13-67802459-C-T c.114G>A p.V38= Synonymous 2/5 - 1
13-67802461-C-A c.112G>T p.V38L Missense 2/5 - 1
13-67802461-C-G c.112G>C p.V38L Missense 2/5 - 1
13-67802463-T-C c.110A>G p.N37S Missense 2/5 - 1
13-67802465-T-A c.108A>T p.E36D Missense 2/5 - 1
13-67802465-T-G c.108A>C p.E36D Missense 2/5 - 1
13-67802470-G-C c.103C>G p.P35A Missense 2/5 - 6
13-67802470-G-T c.103C>A p.P35T Missense 2/5 - 1
13-67802471-C-A c.102G>T p.L34F Missense 2/5 - 1
13-67802471-C-T c.102G>A p.L34= Synonymous 2/5 - 1
13-67802474-T-A c.99A>T p.E33D Missense 2/5 - 1
13-67802474-T-G c.99A>C p.E33D Missense 2/5 - 1
13-67802476-C-T c.97G>A p.E33K Missense 2/5 - 1
13-67802477-C-T c.96G>A p.E32= Synonymous 2/5 - 1
13-67802478-T-A c.95A>T p.E32V Missense 2/5 - 1
13-67802478-T-C c.95A>G p.E32G Missense 2/5 - 1
13-67802480-T-A c.93A>T p.R31S Missense 2/5 - 1
13-67802486-A-C c.87T>G p.T29= Synonymous 2/5 - 1
13-67802486-A-G c.87T>C p.T29= Synonymous 2/5 - 1
13-67802486-A-T c.87T>A p.T29= Synonymous 2/5 - 1
13-67802487-G-C c.86C>G p.T29S Missense 2/5 - 1
13-67802488-T-A c.85A>T p.T29S Missense 2/5 - 1
13-67802490-T-C c.83A>G p.Y28C Missense 2/5 - 1
13-67802494-T-A c.79A>T p.I27F Missense 2/5 - 2
13-67802495-A-C c.78T>G p.L26= Synonymous 2/5 - 1
13-67802495-A-G c.78T>C p.L26= Synonymous 2/5 - 1
13-67802495-A-T c.78T>A p.L26= Synonymous 2/5 - 2
13-67802496-A-C c.77T>G p.L26R Missense 2/5 - 2
13-67802500-C-A c.73G>T p.E25* Nonsense 2/5 - 7
13-67802500-C-T c.73G>A p.E25K Missense 2/5 - 1
13-67802502-T-C c.71A>G p.Q24R Missense 2/5 - 1
13-67802505-G-T c.68C>A p.A23D Missense 2/5 - 1
13-67802506-C-A c.67G>T p.A23S Missense 2/5 - 2
13-67802507-T-C c.66A>G p.I22M Missense 2/5 - 1
13-67802510-T-A c.63A>T p.A21= Synonymous 2/5 - 1
13-67802510-T-C c.63A>G p.A21= Synonymous 2/5 - 1
13-67802510-T-G c.63A>C p.A21= Synonymous 2/5 - 1
13-67802512-C-T c.61G>A p.A21T Missense 2/5 - 11
13-67802513-G-A c.60C>T p.S20= Synonymous 2/5 - 2
13-67802513-G-C c.60C>G p.S20= Synonymous 2/5 - 1
13-67802513-G-T c.60C>A p.S20= Synonymous 2/5 - 1
13-67802514-G-T c.59C>A p.S20Y Missense 2/5 - 1
13-67802518-C-G c.55G>C p.D19H Missense 2/5 - 1
13-67802523-CT-TA c.49_50delinsTA p.R17* Nonsense 2/5 - 1
13-67802523-CT-TG c.49_50delinsCA p.R17Q Missense 2/5 - 1
13-67802529-C-T c.44G>A p.C15Y Missense 2/5 - 3
13-67802532-G-A c.41C>T p.A14V Missense 2/5 - 1
13-67802533-C-T c.40G>A p.A14T Missense 2/5 - 1
13-67802535-A-G c.38T>C p.I13T Missense 2/5 - 2
13-67802536-T-C c.37A>G p.I13V Missense 2/5 - 1
13-67802537-C-A c.36G>T p.L12= Synonymous 2/5 - 1
13-67802537-C-G c.36G>C p.L12= Synonymous 2/5 - 1
13-67802537-C-T c.36G>A p.L12= Synonymous 2/5 - 1
13-67802539-G-A c.34C>T p.L12= Synonymous 2/5 - 1
13-67802540-AG-CT c.32_33inv p.A11E Missense 2/5 - 1
13-67802541-G-C c.32C>G p.A11G Missense 2/5 - 2
13-67802541-GC-CG c.31_32delinsCG p.A11R Missense 2/5 - 2
13-67802541-GC-TT c.31_32delinsAA p.A11N Missense 2/5 - 1
13-67802543-A-C c.30T>G p.A10= Synonymous 2/5 - 1
13-67802543-A-G c.30T>C p.A10= Synonymous 2/5 - 2
13-67802543-A-T c.30T>A p.A10= Synonymous 2/5 - 1
13-67802544-G-C c.29C>G p.A10G Missense 2/5 - 3
13-67802545-C-A c.28G>T p.A10S Missense 2/5 - 1
13-67802557-A-T c.16T>A p.F6I Missense 2/5 - 1
13-67802560-C-T c.13G>A p.D5N Missense 2/5 - 2
13-67802561-C-A c.12G>T p.R4S Missense 2/5 - 1
13-67802561-C-G c.12G>C p.R4S Missense 2/5 - 2
13-67802564-C-A c.9G>T p.L3= Synonymous 2/5 - 1
13-67802564-C-G c.9G>C p.L3= Synonymous 2/5 - 1
13-67802564-C-T c.9G>A p.L3= Synonymous 2/5 - 1
13-67802566-G-A c.7C>T p.L3= Synonymous 2/5 - 1
13-67802567-G-C c.6C>G p.D2E Missense 2/5 - 1
13-67802567-G-T c.6C>A p.D2E Missense 2/5 - 2
13-67802569-C-T c.4G>A p.D2N Missense 2/5 - 1
13-67802570-C-A c.3G>T p.M1? Missense 2/5 - 1
13-67802570-C-G c.3G>C p.M1? Missense 2/5 - 1
13-67802570-C-T c.3G>A p.M1? Missense 2/5 - 2
13-67802571-A-G c.2T>C p.M1? Missense 2/5 - 1
13-67802571-A-T c.2T>A p.M1? Missense 2/5 - 1
13-67802645-C-A c.-73G>T - 5-UTRSNV 2/5 - 1
13-67804098-G-A c.-322C>T - 5_prime_UTR_variant 1/5 - 1
13-67804232-A-C c.-456T>G - 5_prime_UTR_variant 1/5 - 3