PALB2 partner and localizer of BRCA2

Canonical transcript: NM_024675

630 unique variant annotations were identified in 326 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-23614780-CTTATGAATAGTGGTATACAAATATATTTCCATCTTTTTGTCCAGCCAGCAAATGAGAGT-C c.3503_3561del p.Asp1168Glyfs*2 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStopDeletion 13/13 - 1
16-23614792-G-C c.3549C>G p.Tyr1183* Nonsense 13/13 - 25
16-23614792-G-T c.3549C>A p.Tyr1183* Nonsense 13/13 - 19
16-23614802-A-G c.3539T>C p.Ile1180Thr Missense 13/13 - 2
16-23614809-C-G c.3532G>C p.Gly1178Arg Missense 13/13 - 1
16-23614809-C-T c.3532G>A p.Gly1178Arg Missense 13/13 - 1
16-23614821-C-T c.3520G>A p.Gly1174Arg Missense 13/13 - 1
16-23614826-A-G c.3515T>C p.Leu1172Pro Missense 13/13 - 2
16-23614828-C-G c.3513G>C p.Leu1171Phe Missense 13/13 - 1
16-23614833-G-A c.3508C>T p.His1170Tyr Missense 13/13 - 4
16-23614836-GAG-G c.3507_3508del p.His1170Phefs*19 Frameshift 13/13 - 4
16-23614841-G-A c.3500C>T p.Thr1167Ile Missense 13/13 - 1
16-23614844-C-A c.3497G>T p.Gly1166Val Missense 13/13 - 1
16-23614846-C-T c.3495G>A p.Ser1165Ser Synonymous 13/13 - 7
16-23614846-C-G c.3495G>C p.Ser1165Ser Synonymous 13/13 - 5
16-23614846-CC-C c.3497del p.Gly1166Valfs*25 Frameshift 13/13 - 3
16-23614847-G-A c.3494C>T p.Ser1165Leu Missense 13/13 - 1
16-23614849-C-A c.3492G>T p.Trp1164Cys Missense 13/13 - 2
16-23614871-T-C c.3470A>G p.Gln1157Arg Missense 13/13 - 1
16-23614877-G-C c.3464C>G p.Ser1155Cys Missense 13/13 - 1
16-23614892-A-C c.3449T>G p.Leu1150Arg Missense 13/13 - 2
16-23614893-G-A c.3448C>T p.Leu1150Phe Missense 13/13 - 1
16-23614908-C-G c.3433G>C p.Gly1145Arg Missense 13/13 - 2
16-23614913-A-G c.3428T>C p.Leu1143Pro Missense 13/13 - 11
16-23614913-A-T c.3428T>A p.Leu1143His Missense 13/13 - 1
16-23614915-T-TT c.3426dup p.Leu1143Thrfs*14 Frameshift 13/13 - 1
16-23614923-A-G c.3418T>C p.Trp1140Arg Missense 13/13 - 2
16-23614923-A-C c.3418T>G p.Trp1140Gly Missense 13/13 - 4
16-23614937-C-T c.3404G>A p.Gly1135Glu Missense 13/13 - 1
16-23614962-A-G c.3379T>C p.Cys1127Arg Missense 13/13 - 1
16-23614974-C-T c.3367G>A p.Val1123Met Missense 13/13 - 2
16-23614975-G-T c.3366C>A p.Asp1122Glu Missense 13/13 - 1
16-23614979-C-A c.3362G>T p.Gly1121Val Missense 13/13 - 1
16-23614980-CC-C c.3362del p.Gly1121Valfs*3 Frameshift 13/13 - 6
16-23614985-A-G c.3356T>C p.Leu1119Pro Missense 13/13 - 3
16-23614991-C-G c.3351-1G>C - IntronicSNV - 12/12 1
16-23619169-A-C c.3350+16T>G - IntronicSNV - 12/12 1
16-23619180-C-T c.3350+5G>A - IntronicSNV - 12/12 3
16-23619181-T-C c.3350+4A>G - IntronicSNV - 12/12 1
16-23619181-T-G c.3350+4A>C - IntronicSNV - 12/12 1
16-23619184-C-T c.3350+1G>A - IntronicSNV - 12/12 1
16-23619193-C-G c.3342G>C p.Gln1114His Missense 12/13 - 1
16-23619212-T-G c.3323A>C p.Tyr1108Ser Missense 12/13 - 1
16-23619212-GT-G c.3323del p.Tyr1108Serfs*16 Frameshift 12/13 - 4
16-23619214-C-T c.3321G>A p.Leu1107Leu Synonymous 12/13 - 1
16-23619215-A-G c.3320T>C p.Leu1107Pro Missense 12/13 - 1
16-23619228-C-T c.3307G>A p.Val1103Met Missense 12/13 - 2
16-23619228-C-G c.3307G>C p.Val1103Leu Missense 12/13 - 1
16-23619229-G-C c.3306C>G p.Ser1102Arg Missense 12/13 - 2
16-23619231-T-A c.3304A>T p.Ser1102Cys Missense 12/13 - 1
16-23619235-A-C c.3300T>G p.Thr1100Thr Synonymous 12/13 - 17
16-23619235-A-T c.3300T>A p.Thr1100Thr Synonymous 12/13 - 15
16-23619239-G-C c.3296C>G p.Thr1099Arg Missense 12/13 - 2
16-23619241-C-T c.3294G>A p.Lys1098Lys Synonymous 12/13 - 1
16-23619248-T-C c.3287A>G p.Asn1096Ser Missense 12/13 - 1
16-23619257-A-G c.3278T>C p.Ile1093Thr Missense 12/13 - 3
16-23619270-ACA-A c.3267_3268del p.Phe1090Serfs*6 Frameshift 12/13 - 1
16-23619273-G-A c.3262C>T p.Pro1088Ser Missense 12/13 - 4
16-23619279-G-A c.3256C>T p.Arg1086* Nonsense 12/13 - 10
16-23619279-G-C c.3256C>G p.Arg1086Gly Missense 12/13 - 1
16-23619283-C-G c.3252G>C p.Ser1084Ser Synonymous 12/13 - 1
16-23619283-C-T c.3252G>A p.Ser1084Ser Synonymous 12/13 - 2
16-23619286-C-G c.3249G>C p.Glu1083Asp Missense 12/13 - 1
16-23619296-T-C c.3239A>G p.Lys1080Arg Missense 12/13 - 1
16-23619296-TTT-T c.3239_3240del p.Lys1080Argfs*3 Frameshift 12/13 - 1
16-23619306-GG-G c.3231del p.Cys1078Valfs*17 Frameshift 12/13 - 1
16-23619309-G-A c.3226C>T p.His1076Tyr Missense 12/13 - 1
16-23619324-A-G c.3211T>C p.Phe1071Leu Missense 12/13 - 1
16-23619326-A-G c.3209T>C p.Leu1070Pro Missense 12/13 - 3
16-23624777-C-A c.3201+548G>T - IntronicSNV - 11/12 1
16-23625210-A-G c.3201+115T>C - IntronicSNV - 11/12 1
16-23625213-T-C c.3201+112A>G - IntronicSNV - 11/12 1
16-23625224-T-C c.3201+101A>G - IntronicSNV - 11/12 2
16-23625229-C-T c.3201+96G>A - IntronicSNV - 11/12 1
16-23625295-A-G c.3201+30T>C - IntronicSNV - 11/12 1
16-23625322-TT-T c.3201+4del - IntronicDeletion - 11/12 1
16-23625324-C-A c.3201+1G>T - IntronicSNV - 11/12 2
16-23625335-T-C c.3191A>G p.Tyr1064Cys Missense 11/13 - 1
16-23625347-C-G c.3179G>C p.Cys1060Ser Missense 11/13 - 1
16-23625354-A-G c.3172T>C p.Ser1058Pro Missense 11/13 - 1
16-23625360-G-A c.3166C>T p.Gln1056* Nonsense 11/13 - 1
16-23625361-G-T c.3165C>A p.Tyr1055* Nonsense 11/13 - 1
16-23625380-A-G c.3146T>C p.Met1049Thr Missense 11/13 - 1
16-23625387-TT-T c.3143del p.Lys1048Argfs*27 Frameshift 11/13 - 1
16-23625393-G-A c.3133C>T p.Leu1045Phe Missense 11/13 - 1
16-23625394-T-G c.3132A>C p.Gln1044His Missense 11/13 - 1
16-23625397-A-C c.3129T>G p.Gly1043Gly Synonymous 11/13 - 1
16-23625397-A-G c.3129T>C p.Gly1043Gly Synonymous 11/13 - 1
16-23625397-A-T c.3129T>A p.Gly1043Gly Synonymous 11/13 - 1
16-23625398-C-T c.3128G>A p.Gly1043Asp Missense 11/13 - 2
16-23625398-C-G c.3128G>C p.Gly1043Ala Missense 11/13 - 3
16-23625411-TT-T c.3116del p.Asn1039Ilefs*2 Frameshift 11/13 - 9
16-23625463-A-T c.3114-51T>A - IntronicSNV - 10/12 1
16-23630071-C-T c.3113+2612G>A - IntronicSNV - 10/12 2
16-23632552-C-A c.3113+131G>T - IntronicSNV - 10/12 1
16-23632678-C-T c.3113+5G>A - IntronicSNV - 10/12 1
16-23632683-C-T c.3113G>A p.Trp1038* Nonsense 10/13 - 46
16-23632686-A-G c.3110T>C p.Ile1037Thr Missense 10/13 - 2
16-23632690-C-G c.3106G>C p.Val1036Leu Missense 10/13 - 1
16-23632704-AATAGTAG-A c.3086_3092del p.Thr1029Ilefs*2 Frameshift 10/13 - 1
16-23632707-AGTAGTAC-A c.3083_3089del p.Gly1028Valfs*3 Frameshift 10/13 - 1
16-23632707-G-A c.3089C>T p.Thr1030Ile Missense 10/13 - 10
16-23632722-GC-CG c.3073_3074delinsCG p.Ala1025Arg Missense 10/13 - 12
16-23632723-C-T c.3073G>A p.Ala1025Thr Missense 10/13 - 2
16-23632731-AT-GC c.3064_3065delinsGC p.Met1022Ala Missense 10/13 - 1
16-23632735-C-T c.3061G>A p.Gly1021Arg Missense 10/13 - 2
16-23632740-A-G c.3056T>C p.Val1019Ala Missense 10/13 - 2
16-23632742-C-A c.3054G>T p.Glu1018Asp Missense 10/13 - 4
16-23632742-C-G c.3054G>C p.Glu1018Asp Missense 10/13 - 10
16-23632747-C-T c.3049G>A p.Ala1017Thr Missense 10/13 - 2
16-23632749-A-G c.3047T>C p.Phe1016Ser Missense 10/13 - 1
16-23632751-AA-A c.3048del p.Phe1016Leufs*17 Frameshift 10/13 - 2
16-23632759-T-C c.3037A>G p.Ile1013Val Missense 10/13 - 1
16-23632761-G-A c.3035C>T p.Thr1012Ile Missense 10/13 - 1
16-23632769-CA-C c.3027del p.Glu1010Argfs*5 Frameshift 10/13 - 1
16-23632771-G-A c.3025C>T p.Pro1009Ser Missense 10/13 - 1
16-23632774-GG-G c.3026del p.Pro1009Leufs*6 Frameshift 10/13 - 3
16-23632779-A-T c.3017T>A p.Leu1006* Nonsense 10/13 - 1
16-23632786-G-A c.3010C>T p.Gln1004* Nonsense 10/13 - 1
16-23632796-TGCC-T c.2998_3000del p.Gly1000del InFrameDeletion 10/13 - 1
16-23632801-T-G c.2997-2A>C - IntronicSNV - 9/12 1
16-23633423-C-G c.2997-624G>C - IntronicSNV - 9/12 3
16-23634026-A-C c.2996+264T>G - IntronicSNV - 9/12 29
16-23634026-A-G c.2996+264T>C - IntronicSNV - 9/12 29
16-23634107-CT-C c.2996+183del - IntronicDeletion - 9/12 1
16-23634166-G-A c.2996+124C>T - IntronicSNV - 9/12 1
16-23634232-A-G c.2996+58T>C - IntronicSNV - 9/12 1
16-23634292-T-C c.2994A>G p.Gly998Gly Synonymous 9/13 - 1
16-23634292-T-A c.2994A>T p.Gly998Gly Synonymous 9/13 - 1
16-23634292-T-G c.2994A>C p.Gly998Gly Synonymous 9/13 - 1
16-23634293-C-G c.2993G>C p.Gly998Ala Missense 9/13 - 7
16-23634293-C-T c.2993G>A p.Gly998Glu Missense 9/13 - 33
16-23634293-CC-CA c.2992delinsT p.Gly998* Missense 9/13 - 1
16-23634306-A-AA c.2982dup p.Ala995Cysfs*16 Frameshift 9/13 - 7
16-23634318-C-A c.2968G>T p.Glu990* Nonsense 9/13 - 1
16-23634323-TT-T c.2964del p.Val989* Frameshift 9/13 - 2
16-23634324-G-A c.2962C>T p.Gln988* Nonsense 9/13 - 4
16-23634326-T-A c.2960A>T p.Gln987Leu Missense 9/13 - 1
16-23634353-A-T c.2933T>A p.Val978Asp Missense 9/13 - 1
16-23634366-TTT-T c.2920_2921del p.Lys974Glufs*5 Frameshift 9/13 - 1
16-23634371-A-T c.2915T>A p.Leu972Gln Missense 9/13 - 2
16-23634389-A-G c.2897T>C p.Ile966Thr Missense 9/13 - 2
16-23634390-T-C c.2896A>G p.Ile966Val Missense 9/13 - 1
16-23634404-A-G c.2882T>C p.Leu961Pro Missense 9/13 - 2
16-23634413-T-G c.2873A>C p.Gln958Pro Missense 9/13 - 1
16-23634417-T-G c.2869A>C p.Lys957Gln Missense 9/13 - 1
16-23634417-T-C c.2869A>G p.Lys957Glu Missense 9/13 - 1
16-23634424-TTTCATCATCAGAGGAACAAAACAATGC-T c.2836_2862del p.Ala946_Glu954del InFrameDeletion 9/13 - 1
16-23634434-G-A c.2852C>T p.Ser951Phe Missense 9/13 - 1
16-23634435-A-G c.2851T>C p.Ser951Pro Missense 9/13 - 1
16-23634441-A-G c.2845T>C p.Cys949Arg Missense 9/13 - 2
16-23634445-C-A c.2841G>T p.Leu947Phe Missense 9/13 - 3
16-23634446-A-G c.2840T>C p.Leu947Ser Missense 9/13 - 5
16-23634449-G-C c.2837C>G p.Ala946Gly Missense 9/13 - 1
16-23634452-C-G c.2835-1G>C - IntronicSNV - 8/12 2
16-23635318-G-A c.2834+12C>T - IntronicSNV - 8/12 1
16-23635328-A-G c.2834+2T>C - IntronicSNV - 8/12 1
16-23635333-A-T c.2831T>A p.Ile944Asn Missense 8/13 - 3
16-23635336-CT-C c.2828del p.Glu943Glyfs*19 Frameshift 8/13 - 1
16-23635341-G-T c.2823C>A p.Ile941Ile Synonymous 8/13 - 1
16-23635348-A-C c.2816T>G p.Leu939Trp Missense 8/13 - 29
16-23635349-A-G c.2815T>C p.Leu939Leu Synonymous 8/13 - 1
16-23635347-C-T c.2817G>A p.Leu939Leu Synonymous 8/13 - 1
16-23635354-C-T c.2810G>A p.Gly937Glu Missense 8/13 - 1
16-23635355-C-G c.2809G>C p.Gly937Arg Missense 8/13 - 2
16-23635355-C-T c.2809G>A p.Gly937Arg Missense 8/13 - 2
16-23635357-A-G c.2807T>C p.Leu936Ser Missense 8/13 - 1
16-23635361-C-T c.2803G>A p.Ala935Thr Missense 8/13 - 1
16-23635366-C-T c.2798G>A p.Cys933Tyr Missense 8/13 - 1
16-23635368-C-G c.2796G>C p.Val932Val Synonymous 8/13 - 1
16-23635368-C-A c.2796G>T p.Val932Val Synonymous 8/13 - 1
16-23635368-C-T c.2796G>A p.Val932Val Synonymous 8/13 - 1
16-23635370-C-T c.2794G>A p.Val932Met Missense 8/13 - 15
16-23635372-A-G c.2792T>C p.Leu931Pro Missense 8/13 - 1
16-23635372-A-C c.2792T>G p.Leu931Arg Missense 8/13 - 4
16-23635391-C-G c.2773G>C p.Val925Leu Missense 8/13 - 2
16-23635401-C-A c.2763G>T p.Gln921His Missense 8/13 - 1
16-23635401-C-G c.2763G>C p.Gln921His Missense 8/13 - 1
16-23635403-G-A c.2761C>T p.Gln921* Nonsense 8/13 - 1
16-23635409-C-T c.2755G>A p.Val919Ile Missense 8/13 - 2
16-23635411-G-T c.2753C>A p.Pro918Gln Missense 8/13 - 2
16-23635530-A-T c.2749-115T>A - IntronicSNV - 7/12 1
16-23637436-A-G c.2748+121T>C - IntronicSNV - 7/12 1
16-23637555-A-C c.2748+2T>G - IntronicSNV - 7/12 1
16-23637563-G-A c.2742C>T p.Phe914Phe Synonymous 7/13 - 1
16-23637571-A-C c.2734T>G p.Trp912Gly Missense 7/13 - 2
16-23637573-G-A c.2732C>T p.Thr911Ile Missense 7/13 - 1
16-23637578-AAA-A c.2727_2728del p.Thr911Leufs*16 Frameshift 7/13 - 1
16-23637585-T-C c.2720A>G p.Glu907Gly Missense 7/13 - 1
16-23637587-C-T c.2718G>A p.Trp906* Nonsense 7/13 - 4
16-23637606-G-A c.2699C>T p.Ala900Val Missense 7/13 - 1
16-23637621-A-AA c.2686dup p.Ser896Phefs*32 Frameshift 7/13 - 1
16-23637625-C-T c.2680G>A p.Val894Ile Missense 7/13 - 1
16-23637631-C-T c.2674G>A p.Glu892Lys Missense 7/13 - 4
16-23637645-A-C c.2660T>G p.Ile887Ser Missense 7/13 - 1
16-23637664-C-T c.2641G>A p.Gly881Ser Missense 7/13 - 1
16-23637673-C-A c.2632G>T p.Glu878* Nonsense 7/13 - 1
16-23637676-A-G c.2629T>C p.Trp877Arg Missense 7/13 - 1
16-23637677-A-T c.2628T>A p.Phe876Leu Missense 7/13 - 1
16-23637677-A-C c.2628T>G p.Phe876Leu Missense 7/13 - 1
16-23637679-A-G c.2626T>C p.Phe876Leu Missense 7/13 - 1
16-23637693-T-C c.2612A>G p.Asp871Gly Missense 7/13 - 2
16-23637699-GG-G c.2607del p.Val870* Frameshift 7/13 - 2
16-23637699-G-C c.2606C>G p.Ser869Cys Missense 7/13 - 1
16-23637708-C-A c.2597G>T p.Gly866Val Missense 7/13 - 1
16-23637713-A-C c.2592T>G p.Pro864Pro Synonymous 7/13 - 1
16-23637713-A-T c.2592T>A p.Pro864Pro Synonymous 7/13 - 1
16-23637713-A-G c.2592T>C p.Pro864Pro Synonymous 7/13 - 1
16-23637715-G-A c.2590C>T p.Pro864Ser Missense 7/13 - 15
16-23637717-ATT-A c.2587_2588del p.Asn863Serfs*20 SpliceAcceptorDeletion 7/13 - 1
16-23637720-T-G c.2587-2A>C - IntronicSNV - 6/12 1
16-23637756-G-C c.2587-38C>G - IntronicSNV - 6/12 1
16-23637777-A-G c.2587-59T>C - IntronicSNV - 6/12 1
16-23640467-G-A c.2586+58C>T - IntronicSNV - 6/12 9
16-23640524-C-T c.2586+1G>A - IntronicSNV - 6/12 1
16-23640525-CCTT-C c.2584_2586del p.Lys862del InFrameDeletion 6/13 - 1
16-23640527-TTTAACTCTGAAACCAATTGTAGGTTGCCTGGGTTTATGCTATCAGAAGCAGGAAGCTCT-T c.2528_2586del p.Leu844Serfs*20 InFrameDeletion 6/13 - 1
16-23640533-C-T c.2578G>A p.Glu860Lys Missense 6/13 - 1
16-23640537-A-G c.2574T>C p.Val858Val Synonymous 6/13 - 1
16-23640544-TTGTAGGTTGCCTG-T c.2555_2567del p.Pro852Hisfs*6 Frameshift 6/13 - 1
16-23640552-G-T c.2559C>A p.Gly853Gly Synonymous 6/13 - 1
16-23640552-G-A c.2559C>T p.Gly853Gly Synonymous 6/13 - 3
16-23640552-G-C c.2559C>G p.Gly853Gly Synonymous 6/13 - 1
16-23640592-TT-T c.2521del p.Thr841Glnfs*10 Frameshift 6/13 - 1
16-23640966-C-T c.2509G>A p.Glu837Lys Missense 5/13 - 3
16-23640966-C-A c.2509G>T p.Glu837* Nonsense 5/13 - 1
16-23640969-C-T c.2506G>A p.Val836Ile Missense 5/13 - 1
16-23640988-CC-C c.2488del p.Glu830Serfs*21 Frameshift 5/13 - 1
16-23640991-G-A c.2484C>T p.Cys828Cys Synonymous 5/13 - 1
16-23640997-G-A c.2478C>T p.Asn826Asn Synonymous 5/13 - 1
16-23640997-TGT-T c.2480_2481del p.Thr827Metfs*6 Frameshift 5/13 - 1
16-23641001-C-G c.2474G>C p.Arg825Thr Missense 5/13 - 1
16-23641006-G-T c.2469C>A p.Leu823Leu Synonymous 5/13 - 1
16-23641011-G-A c.2464C>T p.Gln822* Nonsense 5/13 - 1
16-23641012-GATTTTCTT-G c.2456_2463del p.Lys819Thrfs*4 Frameshift 5/13 - 1
16-23641014-T-A c.2461A>T p.Asn821Tyr Missense 5/13 - 1
16-23641020-TT-T c.2457del p.Glu820Lysfs*31 Frameshift 5/13 - 1
16-23641022-A-G c.2453T>C p.Phe818Ser Missense 5/13 - 1
16-23641033-C-T c.2442G>A p.Glu814Glu Synonymous 5/13 - 1
16-23641041-G-A c.2434C>T p.Pro812Ser Missense 5/13 - 1
16-23641058-G-A c.2417C>T p.Pro806Leu Missense 5/13 - 2
16-23641065-GAG-G c.2411_2412del p.Ser804Cysfs*10 Frameshift 5/13 - 2
16-23641085-TT-T c.2391del p.Gln797Hisfs*54 Frameshift 5/13 - 1
16-23641089-C-A c.2386G>T p.Gly796* Nonsense 5/13 - 10
16-23641096-G-A c.2379C>T p.Gly793Gly Synonymous 5/13 - 1
16-23641110-G-A c.2365C>T p.Leu789Leu Synonymous 5/13 - 1
16-23641115-G-A c.2360C>T p.Thr787Ile Missense 5/13 - 1
16-23641138-T-G c.2337A>C p.Ser779Ser Synonymous 5/13 - 1
16-23641146-C-T c.2329G>A p.Asp777Asn Missense 5/13 - 2
16-23641147-G-A c.2328C>T p.Phe776Phe Synonymous 5/13 - 1
16-23641151-T-TT c.2325dup p.Phe776Ilefs*26 Frameshift 5/13 - 3
16-23641152-G-A c.2323C>T p.Gln775* Nonsense 5/13 - 22
16-23641186-C-G c.2289G>C p.Leu763Phe Missense 5/13 - 3
16-23641200-G-T c.2275C>A p.Gln759Lys Missense 5/13 - 1
16-23641218-G-A c.2257C>T p.Arg753* Nonsense 5/13 - 11
16-23641219-T-C c.2256A>G p.Gly752Gly Synonymous 5/13 - 3
16-23641224-C-T c.2251G>A p.Ala751Thr Missense 5/13 - 1
16-23641231-T-C c.2244A>G p.Thr748Thr Synonymous 5/13 - 2
16-23641231-T-G c.2244A>C p.Thr748Thr Synonymous 5/13 - 1
16-23641231-T-A c.2244A>T p.Thr748Thr Synonymous 5/13 - 1
16-23641241-T-C c.2234A>G p.Lys745Arg Missense 5/13 - 1
16-23641242-T-C c.2233A>G p.Lys745Glu Missense 5/13 - 1
16-23641244-TT-T c.2235del p.Ala746Hisfs*18 Frameshift 5/13 - 1
16-23641245-C-T c.2230G>A p.Glu744Lys Missense 5/13 - 1
16-23641246-A-T c.2229T>A p.Tyr743* Nonsense 5/13 - 1
16-23641247-T-C c.2228A>G p.Tyr743Cys Missense 5/13 - 3
16-23641257-G-A c.2218C>T p.Gln740* Nonsense 5/13 - 1
16-23641270-T-C c.2205A>G p.Pro735Pro Synonymous 5/13 - 1
16-23641275-T-A c.2200A>T p.Thr734Ser Missense 5/13 - 3
16-23641307-CAT-C c.2167_2168del p.Met723Valfs*21 Frameshift 5/13 - 7
16-23641327-A-T c.2148T>A p.Asn716Lys Missense 5/13 - 1
16-23641330-A-T c.2145T>A p.Asp715Glu Missense 5/13 - 1
16-23641330-A-C c.2145T>G p.Asp715Glu Missense 5/13 - 1
16-23641340-G-A c.2135C>T p.Ala712Val Missense 5/13 - 5
16-23641355-G-A c.2120C>T p.Pro707Leu Missense 5/13 - 1
16-23641356-GG-G c.2120del p.Pro707Leufs*2 Frameshift 5/13 - 1
16-23641367-A-C c.2108T>G p.Leu703* Nonsense 5/13 - 1
16-23641369-T-C c.2106A>G p.Ile702Met Missense 5/13 - 1
16-23641379-G-C c.2096C>G p.Ser699Cys Missense 5/13 - 1
16-23641384-G-T c.2091C>A p.Gly697Gly Synonymous 5/13 - 1
16-23641388-G-A c.2087C>T p.Thr696Met Missense 5/13 - 1
16-23641393-T-C c.2082A>G p.Thr694Thr Synonymous 5/13 - 1
16-23641408-C-T c.2067G>A p.Ser689Ser Synonymous 5/13 - 2
16-23641459-T-C c.2016A>G p.Glu672Glu Synonymous 5/13 - 1
16-23641461-C-G c.2014G>C p.Glu672Gln Missense 5/13 - 22
16-23641461-C-T c.2014G>A p.Glu672Lys Missense 5/13 - 1
16-23641491-T-A c.1984A>T p.Lys662* Nonsense 5/13 - 1
16-23641503-C-A c.1972G>T p.Glu658* Nonsense 5/13 - 1
16-23641507-T-C c.1968A>G p.Pro656Pro Synonymous 5/13 - 1
16-23641520-C-T c.1955G>A p.Ser652Asn Missense 5/13 - 1
16-23641523-C-A c.1952G>T p.Gly651Val Missense 5/13 - 1
16-23641530-T-TT c.1947dup p.Glu650Argfs*13 Frameshift 5/13 - 6
16-23641540-C-T c.1935G>A p.Glu645Glu Synonymous 5/13 - 1
16-23641544-C-T c.1931G>A p.Gly644Glu Missense 5/13 - 1
16-23641545-C-T c.1930G>A p.Gly644Arg Missense 5/13 - 1
16-23641585-AGCAGGACTT-A c.1882_1890del p.Lys628_Cys630del InFrameDeletion 5/13 - 2
16-23641586-GCAG-G c.1889_1891del p.Cys630del InFrameDeletion 5/13 - 1
16-23641594-C-A c.1881G>T p.Val627Val Synonymous 5/13 - 2
16-23641594-C-T c.1881G>A p.Val627Val Synonymous 5/13 - 2
16-23641610-AG-GC c.1864_1865delinsGC p.Leu622Ala Missense 5/13 - 1
16-23641612-AGG-ATG c.1862delinsA p.Pro621His Missense 5/13 - 1
16-23641614-G-T c.1861C>A p.Pro621Thr Missense 5/13 - 3
16-23641619-AA-GC c.1855_1856delinsGC p.Phe619Ala Missense 5/13 - 1
16-23641620-AA-A c.1857del p.Phe619Leufs*9 Frameshift 5/13 - 1
16-23641628-T-C c.1847A>G p.Asp616Gly Missense 5/13 - 1
16-23641629-C-G c.1846G>C p.Asp616His Missense 5/13 - 3
16-23641634-AA-GC c.1840_1841delinsGC p.Leu614Ala Missense 5/13 - 1
16-23641638-G-A c.1837C>T p.Gln613* Nonsense 5/13 - 1
16-23641643-T-G c.1832A>C p.Asp611Ala Missense 5/13 - 1
16-23641665-G-A c.1810C>T p.Leu604Leu Synonymous 5/13 - 1
16-23641694-CC-C c.1783del p.Asp595Metfs*4 Frameshift 5/13 - 1
16-23641695-T-A c.1780A>T p.Arg594Trp Missense 5/13 - 1
16-23641732-T-C c.1743A>G p.Leu581Leu Synonymous 5/13 - 1
16-23641736-T-C c.1739A>G p.Tyr580Cys Missense 5/13 - 1
16-23641743-T-C c.1732A>G p.Ser578Gly Missense 5/13 - 2
16-23641776-G-A c.1699C>T p.His567Tyr Missense 5/13 - 1
16-23641787-T-C c.1688A>G p.Lys563Arg Missense 5/13 - 2
16-23641791-C-T c.1685-1G>A - IntronicSNV - 4/12 1
16-23641791-C-G c.1685-1G>C - IntronicSNV - 4/12 1
16-23641792-T-C c.1685-2A>G - IntronicSNV - 4/12 1
16-23644014-T-C c.1684+2169A>G - IntronicSNV - 4/12 2
16-23644014-T-G c.1684+2169A>C - IntronicSNV - 4/12 2
16-23644586-A-G c.1684+1597T>C - IntronicSNV - 4/12 4
16-23644586-A-T c.1684+1597T>A - IntronicSNV - 4/12 4
16-23644586-A-C c.1684+1597T>G - IntronicSNV - 4/12 4
16-23645348-C-T c.1684+835G>A - IntronicSNV - 4/12 2
16-23645348-C-A c.1684+835G>T - IntronicSNV - 4/12 2
16-23646182-C-T c.1684+1G>A - IntronicSNV - 4/12 1
16-23646185-TTTCACTTGAATAAATAATTTTTCGTGCTGATATTTGTGTGAGGTGACTTCTTCCTTGGA-T c.1624_1682del p.Ser542Argfs*16 InFrameDeletion 4/13 - 1
16-23646190-T-C c.1677A>G p.Gln559Gln Synonymous 4/13 - 1
16-23646191-T-C c.1676A>G p.Gln559Arg Missense 4/13 - 29
16-23646191-T-G c.1676A>C p.Gln559Pro Missense 4/13 - 1
16-23646191-T-A c.1676A>T p.Gln559Leu Missense 4/13 - 4
16-23646192-G-A c.1675C>T p.Gln559* Nonsense 4/13 - 1
16-23646194-A-AA c.1674dup p.Gln559Serfs*19 Frameshift 4/13 - 1
16-23646208-G-C c.1659C>G p.His553Gln Missense 4/13 - 1
16-23646208-G-T c.1659C>A p.His553Gln Missense 4/13 - 1
16-23646214-A-T c.1653T>A p.Tyr551* Nonsense 4/13 - 12
16-23646234-C-A c.1633G>T p.Glu545* Nonsense 4/13 - 2
16-23646234-C-T c.1633G>A p.Glu545Lys Missense 4/13 - 1
16-23646244-C-T c.1623G>A p.Arg541Arg Synonymous 4/13 - 1
16-23646257-G-A c.1610C>T p.Ser537Leu Missense 4/13 - 1
16-23646261-G-A c.1606C>T p.Leu536Leu Synonymous 4/13 - 2
16-23646264-T-A c.1603A>T p.Ser535Cys Missense 4/13 - 1
16-23646267-A-C c.1600T>G p.Ser534Ala Missense 4/13 - 1
16-23646278-AA-A c.1592del p.Leu531Cysfs*30 Frameshift 4/13 - 41
16-23646294-C-CA c.1572_1573insT p.Asp525* Nonsense 4/13 - 1
16-23646295-T-C c.1572A>G p.Ser524Ser Synonymous 4/13 - 14
16-23646296-G-C c.1571C>G p.Ser524* Nonsense 4/13 - 1
16-23646303-G-A c.1564C>T p.Pro522Ser Missense 4/13 - 1
16-23646323-T-C c.1544A>G p.Lys515Arg Missense 4/13 - 2
16-23646325-TT-T c.1546del p.Arg516Glufs*45 Frameshift 4/13 - 1
16-23646375-C-A c.1492G>T p.Asp498Tyr Missense 4/13 - 5
16-23646389-G-A c.1478C>T p.Pro493Leu Missense 4/13 - 1
16-23646390-GG-G c.1479del p.Thr494Leufs*67 Frameshift 4/13 - 1
16-23646392-C-A c.1475G>T p.Gly492Val Missense 4/13 - 1
16-23646397-G-A c.1470C>T p.Pro490Pro Synonymous 4/13 - 5
16-23646397-G-C c.1470C>G p.Pro490Pro Synonymous 4/13 - 4
16-23646406-G-A c.1461C>T p.Val487Val Synonymous 4/13 - 1
16-23646406-G-C c.1461C>G p.Val487Val Synonymous 4/13 - 1
16-23646406-G-T c.1461C>A p.Val487Val Synonymous 4/13 - 1
16-23646416-A-T c.1451T>A p.Leu484* Nonsense 4/13 - 1
16-23646416-A-C c.1451T>G p.Leu484* Nonsense 4/13 - 1
16-23646419-G-C c.1448C>G p.Ser483* Nonsense 4/13 - 1
16-23646429-T-A c.1438A>T p.Lys480* Nonsense 4/13 - 1
16-23646432-G-A c.1435C>T p.Gln479* Nonsense 4/13 - 1
16-23646436-G-A c.1431C>T p.Thr477Thr Synonymous 4/13 - 3
16-23646437-G-A c.1430C>T p.Thr477Ile Missense 4/13 - 1
16-23646446-C-T c.1421G>A p.Ser474Asn Missense 4/13 - 1
16-23646448-T-G c.1419A>C p.Pro473Pro Synonymous 4/13 - 2
16-23646459-GT-G c.1408del p.Thr470Glnfs*15 Frameshift 4/13 - 1
16-23646459-T-C c.1408A>G p.Thr470Ala Missense 4/13 - 2
16-23646482-T-C c.1385A>G p.Glu462Gly Missense 4/13 - 1
16-23646483-C-A c.1384G>T p.Glu462* Nonsense 4/13 - 1
16-23646488-T-C c.1379A>G p.Gln460Arg Missense 4/13 - 1
16-23646489-G-C c.1378C>G p.Gln460Glu Missense 4/13 - 1
16-23646504-T-TA c.1362_1363insT p.Asn455* Nonsense 4/13 - 1
16-23646552-CC-C c.1317del p.Phe440Leufs*12 Frameshift 4/13 - 2
16-23646556-T-C c.1311A>G p.Lys437Lys Synonymous 4/13 - 1
16-23646581-AT-CC c.1285_1286delinsGG p.Ile429Gly Missense 4/13 - 1
16-23646586-CAGCCTCCACGGCTAC-C c.1269_1283del p.Ala424_Val428del InFrameDeletion 4/13 - 1
16-23646586-A-G c.1281T>C p.Ala427Ala Synonymous 4/13 - 1
16-23646588-C-G c.1279G>C p.Ala427Pro Missense 4/13 - 2
16-23646594-C-T c.1273G>A p.Val425Met Missense 4/13 - 3
16-23646605-CT-GC c.1261_1262delinsGC p.Arg421Ala Missense 4/13 - 1
16-23646605-C-T c.1262G>A p.Arg421Lys Missense 4/13 - 1
16-23646611-CA-AT c.1255_1256delinsAT p.Cys419Ile Missense 4/13 - 1
16-23646611-CA-CC c.1255delinsG p.Cys419Gly Missense 4/13 - 2
16-23646612-A-C c.1255T>G p.Cys419Gly Missense 4/13 - 2
16-23646614-TT-GC c.1252_1253delinsGC p.Asn418Ala Missense 4/13 - 2
16-23646617-G-T c.1250C>A p.Ser417Tyr Missense 4/13 - 5
16-23646618-A-C c.1249T>G p.Ser417Ala Missense 4/13 - 1
16-23646625-T-G c.1242A>C p.Arg414Arg Synonymous 4/13 - 1
16-23646626-CG-GC c.1240_1241delinsGC p.Arg414Ala Missense 4/13 - 1
16-23646626-C-T c.1241G>A p.Arg414Gln Missense 4/13 - 2
16-23646626-CG-AA c.1240_1241delinsTT p.Arg414Leu Missense 4/13 - 1
16-23646627-G-A c.1240C>T p.Arg414* Nonsense 4/13 - 12
16-23646629-G-T c.1238C>A p.Thr413Lys Missense 4/13 - 1
16-23646630-T-G c.1237A>C p.Thr413Pro Missense 4/13 - 1
16-23646630-T-C c.1237A>G p.Thr413Ala Missense 4/13 - 1
16-23646630-T-A c.1237A>T p.Thr413Ser Missense 4/13 - 2
16-23646638-AC-CC c.1229delinsG p.Val410Gly Missense 4/13 - 2
16-23646638-A-G c.1229T>C p.Val410Ala Missense 4/13 - 1
16-23646638-A-C c.1229T>G p.Val410Gly Missense 4/13 - 1
16-23646639-ACATAA-A c.1227_1231del p.Tyr409* Frameshift 4/13 - 1
16-23646640-A-T c.1227T>A p.Tyr409* Nonsense 4/13 - 1
16-23646640-A-C c.1227T>G p.Tyr409* Nonsense 4/13 - 1
16-23646641-T-C c.1226A>G p.Tyr409Cys Missense 4/13 - 1
16-23646643-A-G c.1224T>C p.Tyr408Tyr Synonymous 4/13 - 1
16-23646644-TA-GC c.1222_1223delinsGC p.Tyr408Ala Missense 4/13 - 1
16-23646645-A-G c.1222T>C p.Tyr408His Missense 4/13 - 3
16-23646647-T-G c.1220A>C p.Glu407Ala Missense 4/13 - 1
16-23646654-G-C c.1213C>G p.Pro405Ala Missense 4/13 - 1
16-23646654-G-T c.1213C>A p.Pro405Thr Missense 4/13 - 1
16-23646656-AA-GC c.1210_1211delinsGC p.Phe404Ala Missense 4/13 - 1
16-23646655-A-C c.1212T>G p.Phe404Leu Missense 4/13 - 1
16-23646671-G-T c.1196C>A p.Pro399His Missense 4/13 - 1
16-23646673-C-T c.1194G>A p.Val398Val Synonymous 4/13 - 6
16-23646673-C-A c.1194G>T p.Val398Val Synonymous 4/13 - 5
16-23646677-G-A c.1190C>T p.Thr397Ile Missense 4/13 - 1
16-23646678-T-A c.1189A>T p.Thr397Ser Missense 4/13 - 3
16-23646679-G-A c.1188C>T p.Cys396Cys Synonymous 4/13 - 1
16-23646722-C-A c.1145G>T p.Ser382Ile Missense 4/13 - 2
16-23646729-CT-C c.1138del p.Ser380Valfs*44 Frameshift 4/13 - 1
16-23646730-C-A c.1137G>T p.Lys379Asn Missense 4/13 - 1
16-23646730-C-G c.1137G>C p.Lys379Asn Missense 4/13 - 1
16-23646738-G-C c.1129C>G p.Gln377Glu Missense 4/13 - 1
16-23646739-ACT-GAG c.1126_1128delinsCTC p.Ser376Leu Missense 4/13 - 1
16-23646740-CT-GC c.1126_1127delinsGC p.Ser376Ala Missense 4/13 - 3
16-23646740-CT-GA c.1126_1127delinsTC p.Ser376Ser Missense 4/13 - 2
16-23646744-G-A c.1123C>T p.Leu375Leu Synonymous 4/13 - 1
16-23646782-A-G c.1085T>C p.Leu362Pro Missense 4/13 - 1
16-23646807-GA-G c.1060del p.Ser354Leufs*2 Frameshift 4/13 - 1
16-23646810-TT-T c.1059del p.Lys353Asnfs*3 Frameshift 4/13 - 4
16-23646813-TCT-T c.1056_1057del p.Lys353Ilefs*7 Frameshift 4/13 - 1
16-23646813-C-G c.1054G>C p.Glu352Gln Missense 4/13 - 1
16-23646816-TT-AGA c.1050_1051delinsTCT p.Gln350Hisfs*11 Frameshift 4/13 - 3
16-23646816-GTTTG-G c.1050_1053del p.Thr351Argfs*4 Frameshift 4/13 - 1
16-23646825-G-A c.1042C>T p.Gln348* Nonsense 4/13 - 1
16-23646827-T-TT c.1041dup p.Gln348Thrfs*13 Frameshift 4/13 - 1
16-23646828-C-A c.1039G>T p.Glu347* Nonsense 4/13 - 1
16-23646828-TCTTTT-T c.1037_1041del p.Lys346Thrfs*13 Frameshift 4/13 - 3
16-23646834-A-C c.1033T>G p.Leu345Val Missense 4/13 - 1
16-23646840-G-A c.1027C>T p.Gln343* Nonsense 4/13 - 5
16-23646852-GCTGGT-G c.1011_1015del p.Leu337Phefs*3 Frameshift 4/13 - 1
16-23646857-A-G c.1010T>C p.Leu337Ser Missense 4/13 - 19
16-23646856-T-C c.1011A>G p.Leu337Leu Synonymous 4/13 - 1
16-23646858-A-G c.1009T>C p.Leu337Leu Synonymous 4/13 - 1
16-23646867-A-C c.1000T>G p.Tyr334Asp Missense 4/13 - 2
16-23646884-G-C c.983C>G p.Ser328Cys Missense 4/13 - 1
16-23646890-G-T c.977C>A p.Ser326* Nonsense 4/13 - 1
16-23646890-G-C c.977C>G p.Ser326* Nonsense 4/13 - 1
16-23646911-G-T c.956C>A p.Ser319Tyr Missense 4/13 - 3
16-23646917-G-A c.950C>T p.Thr317Ile Missense 4/13 - 1
16-23646918-T-G c.949A>C p.Thr317Pro Missense 4/13 - 2
16-23646942-T-C c.925A>G p.Ile309Val Missense 4/13 - 11
16-23646958-G-A c.909C>T p.Leu303Leu Synonymous 4/13 - 2
16-23646968-GT-CT c.899delinsG p.Thr300Arg Missense 4/13 - 1
16-23646968-GT-GG c.898delinsC p.Thr300Pro Missense 4/13 - 2
16-23646968-G-A c.899C>T p.Thr300Ile Missense 4/13 - 5
16-23646987-TT-T c.886del p.Met296* Frameshift 4/13 - 1
16-23646987-T-TT c.886dup p.Met296Asnfs*7 Frameshift 4/13 - 2
16-23647007-A-AA c.860dup p.Ser288Lysfs*15 Frameshift 4/13 - 2
16-23647013-G-A c.854C>T p.Ser285Leu Missense 4/13 - 1
16-23647029-T-TA c.837_838insT p.Asn280* Nonsense 4/13 - 1
16-23647033-TT-T c.839del p.Asn280Thrfs*8 Frameshift 4/13 - 1
16-23647046-G-A c.821C>T p.Thr274Ile Missense 4/13 - 1
16-23647047-T-TT c.820dup p.Thr274Asnfs*9 Frameshift 4/13 - 1
16-23647053-C-T c.814G>A p.Glu272Lys Missense 4/13 - 1
16-23647058-C-T c.809G>A p.Ser270Asn Missense 4/13 - 1
16-23647060-A-C c.807T>G p.Gly269Gly Synonymous 4/13 - 1
16-23647060-A-T c.807T>A p.Gly269Gly Synonymous 4/13 - 1
16-23647060-A-G c.807T>C p.Gly269Gly Synonymous 4/13 - 1
16-23647099-G-A c.768C>T p.Ser256Ser Synonymous 4/13 - 3
16-23647104-C-T c.763G>A p.Asp255Asn Missense 4/13 - 1
16-23647106-G-C c.761C>G p.Ser254* Nonsense 4/13 - 1
16-23647106-G-T c.761C>A p.Ser254* Nonsense 4/13 - 1
16-23647109-A-AA c.758dup p.Ser254Ilefs*3 Frameshift 4/13 - 4
16-23647111-GAG-G c.757_758del p.Leu253Ilefs*3 Frameshift 4/13 - 2
16-23647116-G-A c.751C>T p.Gln251* Nonsense 4/13 - 8
16-23647121-G-A c.746C>T p.Pro249Leu Missense 4/13 - 1
16-23647127-G-C c.740C>G p.Thr247Arg Missense 4/13 - 1
16-23647143-A-C c.724T>G p.Phe242Val Missense 4/13 - 1
16-23647146-T-C c.721A>G p.Asn241Asp Missense 4/13 - 3
16-23647153-TCT-TGG c.712_713delinsCC p.Arg238Pro Missense 4/13 - 1
16-23647161-A-AA c.707dup p.Leu237Profs*5 Frameshift 4/13 - 1
16-23647170-AC-A c.697del p.Val233Leufs*5 Frameshift 4/13 - 3
16-23647171-A-AA c.696dup p.Val233Cysfs*2 Frameshift 4/13 - 1
16-23647176-T-C c.691A>G p.Lys231Glu Missense 4/13 - 1
16-23647178-T-TT c.693dup p.Gly232Argfs*3 Frameshift 4/13 - 1
16-23647179-C-A c.688G>T p.Glu230* Nonsense 4/13 - 1
16-23647205-AC-TA c.661_662delinsTA p.Val221* Missense 4/13 - 2
16-23647211-T-C c.656A>G p.Asp219Gly Missense 4/13 - 5
16-23647214-TT-T c.654del p.Asp219Thrfs*4 Frameshift 4/13 - 1
16-23647216-A-AA c.651dup p.Glu218* Nonsense 4/13 - 1
16-23647224-C-A c.643G>T p.Glu215* Nonsense 4/13 - 1
16-23647233-G-A c.634C>T p.Pro212Ser Missense 4/13 - 1
16-23647238-G-A c.629C>T p.Pro210Leu Missense 4/13 - 6
16-23647249-A-C c.618T>G p.Leu206Leu Synonymous 4/13 - 1
16-23647252-T-C c.615A>G p.Glu205Glu Synonymous 4/13 - 1
16-23647257-A-T c.610T>A p.Ser204Thr Missense 4/13 - 1
16-23647271-AA-A c.599del p.Leu200* Frameshift 4/13 - 1
16-23647275-G-C c.592C>G p.His198Asp Missense 4/13 - 1
16-23647291-T-TT c.577dup p.Thr193Asnfs*2 Frameshift 4/13 - 1
16-23647296-G-C c.571C>G p.Pro191Ala Missense 4/13 - 1
16-23647308-G-A c.559C>T p.Pro187Ser Missense 4/13 - 1
16-23647310-T-A c.557A>T p.Asn186Ile Missense 4/13 - 1
16-23647332-G-A c.535C>T p.Gln179* Nonsense 4/13 - 1
16-23647337-T-C c.530A>G p.Lys177Arg Missense 4/13 - 1
16-23647343-CT-GC c.523_524delinsGC p.Arg175Ala Missense 4/13 - 1
16-23647346-TTT-T c.522_523del p.Arg175Thrfs*9 Frameshift 4/13 - 1
16-23647358-CT-GC c.508_509delinsGC p.Arg170Ala Missense 4/13 - 1
16-23647358-TCT-T c.509_510del p.Arg170Ilefs*14 Frameshift 4/13 - 22
16-23647358-C-A c.509G>T p.Arg170Ile Missense 4/13 - 1
16-23647359-T-C c.508A>G p.Arg170Gly Missense 4/13 - 1
16-23647359-T-A c.508A>T p.Arg170* Nonsense 4/13 - 1
16-23647359-T-TA c.507_508insT p.Arg170* Nonsense 4/13 - 1
16-23647362-G-T c.505C>A p.Leu169Ile Missense 4/13 - 3
16-23647373-C-T c.494G>A p.Gly165Asp Missense 4/13 - 1
16-23647382-ACA-A c.487_488del p.Val163Leufs*4 Frameshift 4/13 - 1
16-23647384-G-C c.483C>G p.Asp161Glu Missense 4/13 - 1
16-23647396-TGA-GAC c.469_471delinsGTC p.Ser157Val Missense 4/13 - 1
16-23647398-A-C c.469T>G p.Ser157Ala Missense 4/13 - 3
16-23647399-A-C c.468T>G p.Ile156Met Missense 4/13 - 1
16-23647411-C-G c.456G>C p.Lys152Asn Missense 4/13 - 1
16-23647411-C-A c.456G>T p.Lys152Asn Missense 4/13 - 1
16-23647416-G-A c.451C>T p.Gln151* Nonsense 4/13 - 2
16-23647437-G-A c.430C>T p.Pro144Ser Missense 4/13 - 1
16-23647443-T-A c.424A>T p.Lys142* Nonsense 4/13 - 1
16-23647451-TT-T c.419del p.Lys140Serfs*37 Frameshift 4/13 - 1
16-23647467-C-T c.400G>A p.Asp134Asn Missense 4/13 - 5
16-23647469-C-G c.398G>C p.Ser133Thr Missense 4/13 - 1
16-23647502-T-C c.365A>G p.Asp122Gly Missense 4/13 - 1
16-23647514-A-G c.353T>C p.Ile118Thr Missense 4/13 - 1
16-23647521-A-AA c.347dup p.Leu116Phefs*8 Frameshift 4/13 - 1
16-23647523-C-A c.344G>T p.Gly115Val Missense 4/13 - 2
16-23647553-T-G c.314A>C p.Glu105Ala Missense 4/13 - 1
16-23647556-G-A c.311C>T p.Pro104Leu Missense 4/13 - 1
16-23647567-A-C c.300T>G p.Leu100Leu Synonymous 4/13 - 1
16-23647569-G-A c.298C>T p.Leu100Phe Missense 4/13 - 2
16-23647587-C-T c.280G>A p.Glu94Lys Missense 4/13 - 1
16-23647589-C-T c.278G>A p.Gly93Glu Missense 4/13 - 1
16-23647589-C-G c.278G>C p.Gly93Ala Missense 4/13 - 1
16-23647590-C-T c.277G>A p.Gly93Arg Missense 4/13 - 1
16-23647590-C-G c.277G>C p.Gly93Arg Missense 4/13 - 1
16-23647591-AGT-GAG c.274_276delinsCTC p.Thr92Leu Missense 4/13 - 2
16-23647595-TC-AG c.271_272delinsCT p.Glu91Leu Missense 4/13 - 1
16-23647605-G-A c.262C>T p.Leu88Phe Missense 4/13 - 1
16-23647635-C-T c.232G>A p.Val78Ile Missense 4/13 - 5
16-23647638-CA-C c.229del p.Cys77Valfs*100 Frameshift 4/13 - 2
16-23647641-T-C c.226A>G p.Ile76Val Missense 4/13 - 1
16-23647644-TT-T c.226del p.Ile76Tyrfs*101 Frameshift 4/13 - 1
16-23647656-C-T c.212-1G>A - IntronicSNV - 3/12 1
16-23647657-T-C c.212-2A>G - IntronicSNV - 3/12 1
16-23647676-T-C c.212-21A>G - IntronicSNV - 3/12 1
16-23647713-T-G c.212-58A>C - IntronicSNV - 3/12 4
16-23647835-A-C c.212-180T>G - IntronicSNV - 3/12 1
16-23649125-G-T c.211+46C>A - IntronicSNV - 3/12 1
16-23649186-G-A c.196C>T p.Gln66* Nonsense 3/13 - 9
16-23649188-G-A c.194C>T p.Pro65Leu Missense 3/13 - 2
16-23649192-A-C c.190T>G p.Ser64Ala Missense 3/13 - 1
16-23649192-A-G c.190T>C p.Ser64Pro Missense 3/13 - 1
16-23649192-A-AAGAATCAT c.189_190insATGATTCT p.Ser64Metfs*7 Frameshift 3/13 - 1
16-23649195-G-C c.187C>G p.Leu63Val Missense 3/13 - 1
16-23649200-T-C c.182A>G p.Gln61Arg Missense 3/13 - 1
16-23649201-G-A c.181C>T p.Gln61* Nonsense 3/13 - 2
16-23649201-G-T c.181C>A p.Gln61Lys Missense 3/13 - 1
16-23649205-AGA-GAG c.175_177delinsCTC p.Ser59Leu Missense 3/13 - 2
16-23649206-G-GGC c.175_176insGC p.Ser59Cysfs*10 Frameshift 3/13 - 1
16-23649207-A-C c.175T>G p.Ser59Ala Missense 3/13 - 4
16-23649208-AC-A c.174del p.Leu58Phefs*10 Frameshift 3/13 - 1
16-23649211-AACAA-A c.172_175del p.Gln60Argfs*7 Frameshift 3/13 - 17
16-23649215-T-G c.167A>C p.Asp56Ala Missense 3/13 - 1
16-23649246-G-A c.136C>T p.His46Tyr Missense 3/13 - 1
16-23649248-TT-GC c.133_134delinsGC p.Lys45Ala Missense 3/13 - 1
16-23649251-AT-GC c.130_131delinsGC p.Ile44Ala Missense 3/13 - 1
16-23649257-T-C c.125A>G p.Glu42Gly Missense 3/13 - 1
16-23649257-T-G c.125A>C p.Glu42Ala Missense 3/13 - 2
16-23649258-C-T c.124G>A p.Glu42Lys Missense 3/13 - 1
16-23649264-T-C c.118A>G p.Arg40Gly Missense 3/13 - 2
16-23649269-G-C c.113C>G p.Ala38Gly Missense 3/13 - 2
16-23649272-C-T c.110G>A p.Arg37His Missense 3/13 - 6
16-23649273-G-A c.109C>T p.Arg37Cys Missense 3/13 - 2
16-23649273-G-T c.109C>A p.Arg37Ser Missense 3/13 - 1
16-23649275-T-C c.109-2A>G - IntronicSNV - 2/12 1
16-23649395-AG-GC c.103_104delinsGC p.Leu35Ala Missense 2/13 - 5
16-23649395-A-G c.104T>C p.Leu35Pro Missense 2/13 - 13
16-23649398-C-T c.101G>A p.Arg34His Missense 2/13 - 1
16-23649399-G-A c.100C>T p.Arg34Cys Missense 2/13 - 1
16-23649400-G-A c.99C>T p.Ala33Ala Synonymous 2/13 - 1
16-23649400-G-C c.99C>G p.Ala33Ala Synonymous 2/13 - 1
16-23649400-G-T c.99C>A p.Ala33Ala Synonymous 2/13 - 1
16-23649405-G-C c.94C>G p.Leu32Val Missense 2/13 - 3
16-23649406-T-TT c.93dup p.Leu32Thrfs*11 Frameshift 2/13 - 3
16-23649409-C-A c.90G>T p.Lys30Asn Missense 2/13 - 3
16-23649416-TA-GC c.82_83delinsGC p.Tyr28Ala Missense 2/13 - 6
16-23649416-T-C c.83A>G p.Tyr28Cys Missense 2/13 - 7
16-23649418-T-C c.81A>G p.Glu27Glu Synonymous 2/13 - 1
16-23649420-C-A c.79G>T p.Glu27* Nonsense 2/13 - 1
16-23649426-T-A c.73A>T p.Lys25* Nonsense 2/13 - 1
16-23649427-TC-T c.72del p.Arg26Glyfs*7 Frameshift 2/13 - 2
16-23649428-A-G c.71T>C p.Leu24Ser Missense 2/13 - 3
16-23649428-AA-CC c.70_71delinsGG p.Leu24Gly Missense 2/13 - 3
16-23649428-AA-GC c.70_71delinsGC p.Leu24Ala Missense 2/13 - 1
16-23649429-AA-A c.71del p.Leu24* Frameshift 2/13 - 1
16-23649435-C-T c.64G>A p.Ala22Thr Missense 2/13 - 1
16-23649437-AA-CC c.61_62delinsGG p.Leu21Gly Missense 2/13 - 5
16-23649437-A-C c.62T>G p.Leu21* Nonsense 2/13 - 1
16-23649437-AA-GC c.61_62delinsGC p.Leu21Ala Missense 2/13 - 9
16-23649446-T-C c.53A>G p.Lys18Arg Missense 2/13 - 13
16-23649446-TT-GC c.52_53delinsGC p.Lys18Ala Missense 2/13 - 1
16-23649447-TTTAACT-T c.49_54del p.Leu17_Lys18del InFrameDeletion 2/13 1/12 1
16-23649451-C-T c.49-1G>A - IntronicSNV - 1/12 1
16-23649452-T-A c.49-2A>T - IntronicSNV - 1/12 1
16-23652431-C-T c.48G>A p.Lys16Lys Synonymous 1/13 - 2
16-23652435-TT-T c.47del p.Lys16Serfs*2 Frameshift 1/13 - 1
16-23652438-TT-GC c.40_41delinsGC p.Lys14Ala Missense 1/13 - 2
16-23652448-A-G c.31T>C p.Cys11Arg Missense 1/13 - 1
16-23652450-CT-GC c.28_29delinsGC p.Ser10Ala Missense 1/13 - 2
16-23652451-T-A c.28A>T p.Ser10Cys Missense 1/13 - 1
16-23652453-A-T c.26T>A p.Leu9His Missense 1/13 - 1
16-23652456-G-A c.23C>T p.Pro8Leu Missense 1/13 - 3
16-23652457-G-T c.22C>A p.Pro8Thr Missense 1/13 - 1
16-23652461-C-A c.18G>T p.Gly6Gly Synonymous 1/13 - 2
16-23652466-G-A c.13C>T p.Pro5Ser Missense 1/13 - 1
16-23652467-A-G c.12T>C p.Pro4Pro Synonymous 1/13 - 1
16-23652468-G-A c.11C>T p.Pro4Leu Missense 1/13 - 2
16-23652469-G-A c.10C>T p.Pro4Ser Missense 1/13 - 1
16-23652472-C-A c.7G>T p.Glu3* Nonsense 1/13 - 1
16-23652525-C-T c.-47G>A - 5-UTRSNV 1/13 - 7