PAH phenylalanine hydroxylase

Canonical transcript: NM_000277

798 unique variant annotations were identified in 261 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-103232766-C-T c.*187G>A - 3-UTRSNV 13/13 - 1
12-103232972-G-T c.1340C>A p.Ala447Asp Missense 13/13 - 1
12-103232974-ACT-TGA c.1336_1338delinsTCA p.Ser446Ser Nonsense 13/13 - 1
12-103232981-A-G c.1331T>C p.Leu444Pro Missense 13/13 - 4
12-103232982-G-A c.1330C>T p.Leu444Phe Missense 13/13 - 1
12-103232996-C-T c.1316G>A p.Ser439Asn Missense 13/13 - 1
12-103232997-C-T c.1316-1G>A - IntronicSNV - 12/12 1
12-103232998-T-G c.1316-2A>C - IntronicSNV - 12/12 1
12-103233031-G-A c.1316-35C>T - IntronicSNV - 12/12 1
12-103234172-A-T c.1315+6T>A - IntronicSNV - 12/12 2
12-103234173-C-T c.1315+5G>A - IntronicSNV - 12/12 1
12-103234176-A-G c.1315+2T>C - IntronicSNV - 12/12 1
12-103234177-C-A c.1315+1G>T - IntronicSNV - 12/12 1
12-103234177-C-T c.1315+1G>A - IntronicSNV - 12/12 24
12-103234189-T-A c.1304A>T p.Asp435Val Missense 12/13 - 1
12-103234192-G-T c.1301C>A p.Ala434Asp Missense 12/13 - 12
12-103234204-A-G c.1289T>C p.Leu430Pro Missense 12/13 - 4
12-103234208-G-T c.1285C>A p.Gln429Lys Missense 12/13 - 1
12-103234215-A-G c.1278T>C p.Asn426Asn Synonymous 12/13 - 3
12-103234222-A-G c.1271T>C p.Leu424Ser Missense 12/13 - 1
12-103234229-C-T c.1264G>A p.Glu422Lys Missense 12/13 - 2
12-103234231-A-G c.1262T>C p.Ile421Thr Missense 12/13 - 3
12-103234237-T-C c.1256A>G p.Gln419Arg Missense 12/13 - 6
12-103234241-T-G c.1252A>C p.Thr418Pro Missense 12/13 - 6
12-103234244-A-G c.1249T>C p.Tyr417His Missense 12/13 - 2
12-103234244-A-T c.1249T>A p.Tyr417Asn Missense 12/13 - 2
12-103234246-G-T c.1247C>A p.Pro416Gln Missense 12/13 - 3
12-103234250-C-A c.1243G>T p.Asp415Tyr Missense 12/13 - 2
12-103234250-C-T c.1243G>A p.Asp415Asn Missense 12/13 - 11
12-103234251-G-A c.1242C>T p.Tyr414Tyr Synonymous 12/13 - 4
12-103234251-G-T c.1242C>A p.Tyr414* Nonsense 12/13 - 1
12-103234252-T-C c.1241A>G p.Tyr414Cys Missense 12/13 - 32
12-103234255-C-G c.1238G>C p.Arg413Pro Missense 12/13 - 29
12-103234255-C-T c.1238G>A p.Arg413His Missense 12/13 - 1
12-103234256-G-T c.1237C>A p.Arg413Ser Missense 12/13 - 1
12-103234264-A-C c.1229T>G p.Phe410Cys Missense 12/13 - 1
12-103234264-A-G c.1229T>C p.Phe410Ser Missense 12/13 - 2
12-103234270-C-A c.1223G>T p.Arg408Leu Missense 12/13 - 1
12-103234270-C-T c.1223G>A p.Arg408Gln Missense 12/13 - 24
12-103234271-G-A c.1222C>T p.Arg408Trp Missense 12/13 - 76
12-103234273-G-A c.1220C>T p.Pro407Leu Missense 12/13 - 1
12-103234274-G-A c.1219C>T p.Pro407Ser Missense 12/13 - 2
12-103234275-T-C c.1218A>G p.Ile406Met Missense 12/13 - 3
12-103234276-A-G c.1217T>C p.Ile406Thr Missense 12/13 - 2
12-103234276-TATTGT-T c.1215_1219del p.Ile406Serfs*15 Frameshift 12/13 - 1
12-103234277-T-C c.1216A>G p.Ile406Val Missense 12/13 - 1
12-103234285-G-A c.1208C>T p.Ala403Val Missense 12/13 - 24
12-103234287-A-C c.1206T>G p.Phe402Leu Missense 12/13 - 1
12-103234287-A-T c.1206T>A p.Phe402Leu Missense 12/13 - 1
12-103234289-A-G c.1204T>C p.Phe402Leu Missense 12/13 - 1
12-103234290-AG-A c.1203del p.Phe402Leufs*50 Frameshift 12/13 - 1
12-103234294-C-G c.1200-1G>C - IntronicSNV - 11/12 1
12-103234294-C-T c.1200-1G>A - IntronicSNV - 11/12 1
12-103234295-T-G c.1200-2A>C - IntronicSNV - 11/12 1
12-103234301-C-T c.1200-8G>A - IntronicSNV - 11/12 1
12-103234544-G-A c.1200-251C>T - IntronicSNV - 11/12 2
12-103237160-C-T c.1199+264G>A - IntronicSNV - 11/12 1
12-103237400-TGGCTC-T c.1199+20_1199+24del - IntronicDeletion - 11/12 1
12-103237402-GCTCACC-G c.1199+17_1199+22del - IntronicDeletion - 11/12 1
12-103237404-C-G c.1199+20G>C - IntronicSNV - 11/12 1
12-103237404-TC-T c.1199+20del - IntronicDeletion - 11/12 1
12-103237405-CACCTTTG-C c.1199+13_1199+19del - IntronicDeletion - 11/12 1
12-103237406-C-G c.1199+18G>C - IntronicSNV - 11/12 1
12-103237407-CC-C c.1199+18del - IntronicDeletion - 11/12 1
12-103237407-C-G c.1199+17G>C - IntronicSNV - 11/12 1
12-103237407-C-T c.1199+17G>A - IntronicSNV - 11/12 3
12-103237409-T-G c.1199+15A>C - IntronicSNV - 11/12 1
12-103237411-TG-T c.1199+13del - IntronicDeletion - 11/12 1
12-103237421-C-T c.1199+3G>A - IntronicSNV - 11/12 1
12-103237423-C-G c.1199+1G>C - IntronicSNV - 11/12 4
12-103237424-C-G c.1199G>C p.Arg400Thr Missense 11/13 - 4
12-103237424-C-T c.1199G>A p.Arg400Lys Missense 11/13 - 8
12-103237426-T-A c.1197A>T p.Val399Val Synonymous 11/13 - 18
12-103237427-AC-TA c.1195_1196delinsTA p.Val399* Nonsense 11/13 - 1
12-103237427-A-G c.1196T>C p.Val399Ala Missense 11/13 - 1
12-103237429-T-C c.1194A>G p.Lys398Lys Synonymous 11/13 - 1
12-103237439-G-C c.1184C>G p.Ala395Gly Missense 11/13 - 1
12-103237439-G-T c.1184C>A p.Ala395Asp Missense 11/13 - 1
12-103237440-C-G c.1183G>C p.Ala395Pro Missense 11/13 - 4
12-103237443-C-A c.1180G>T p.Asp394Tyr Missense 11/13 - 1
12-103237443-C-G c.1180G>C p.Asp394His Missense 11/13 - 2
12-103237447-A-C c.1176T>G p.Phe392Leu Missense 11/13 - 1
12-103237447-A-T c.1176T>A p.Phe392Leu Missense 11/13 - 1
12-103237449-A-G c.1174T>C p.Phe392Leu Missense 11/13 - 1
12-103237449-A-T c.1174T>A p.Phe392Ile Missense 11/13 - 5
12-103237451-C-A c.1172G>T p.Ser391Ile Missense 11/13 - 1
12-103237452-T-C c.1171A>G p.Ser391Gly Missense 11/13 - 1
12-103237454-T-C c.1169A>G p.Glu390Gly Missense 11/13 - 20
12-103237460-A-G c.1163T>C p.Val388Ala Missense 11/13 - 1
12-103237461-C-G c.1162G>C p.Val388Leu Missense 11/13 - 2
12-103237461-C-T c.1162G>A p.Val388Met Missense 11/13 - 19
12-103237464-A-C c.1159T>G p.Tyr387Asp Missense 11/13 - 1
12-103237464-A-G c.1159T>C p.Tyr387His Missense 11/13 - 2
12-103237466-T-C c.1157A>G p.Tyr386Cys Missense 11/13 - 5
12-103237467-A-C c.1156T>G p.Tyr386Asp Missense 11/13 - 1
12-103237468-G-A c.1155C>T p.Leu385Leu Synonymous 11/13 - 6
12-103237468-G-C c.1155C>G p.Leu385Leu Synonymous 11/13 - 8
12-103237468-G-T c.1155C>A p.Leu385Leu Synonymous 11/13 - 7
12-103237469-A-G c.1154T>C p.Leu385Pro Missense 11/13 - 1
12-103237479-A-T c.1144T>A p.Phe382Ile Missense 11/13 - 1
12-103237482-C-A c.1141G>T p.Glu381* Nonsense 11/13 - 1
12-103237484-G-A c.1139C>T p.Thr380Met Missense 11/13 - 8
12-103237487-A-G c.1136T>C p.Val379Ala Missense 11/13 - 1
12-103237488-C-A c.1135G>T p.Val379Phe Missense 11/13 - 1
12-103237491-T-A c.1132A>T p.Thr378Ser Missense 11/13 - 1
12-103237493-T-A c.1130A>T p.Tyr377Phe Missense 11/13 - 1
12-103237493-T-C c.1130A>G p.Tyr377Cys Missense 11/13 - 1
12-103237500-G-C c.1123C>G p.Gln375Glu Missense 11/13 - 2
12-103237506-C-G c.1117G>C p.Ala373Pro Missense 11/13 - 1
12-103237506-C-T c.1117G>A p.Ala373Thr Missense 11/13 - 3
12-103237508-G-C c.1115C>G p.Thr372Arg Missense 11/13 - 2
12-103237509-T-A c.1114A>T p.Thr372Ser Missense 11/13 - 3
12-103237511-T-C c.1112A>G p.Lys371Arg Missense 11/13 - 1
12-103237514-T-C c.1109A>G p.Glu370Gly Missense 11/13 - 1
12-103237516-C-A c.1107G>T p.Leu369Leu Synonymous 11/13 - 1
12-103237516-C-G c.1107G>C p.Leu369Leu Synonymous 11/13 - 1
12-103237516-C-T c.1107G>A p.Leu369Leu Synonymous 11/13 - 1
12-103237518-G-A c.1105C>T p.Leu369Leu Synonymous 11/13 - 1
12-103237521-C-CA c.1101_1102insT p.Glu368* Nonsense 11/13 - 1
12-103237521-C-T c.1102G>A p.Glu368Lys Missense 11/13 - 1
12-103237523-A-G c.1100T>C p.Leu367Pro Missense 11/13 - 1
12-103237524-G-C c.1099C>G p.Leu367Val Missense 11/13 - 1
12-103237526-G-T c.1097C>A p.Pro366His Missense 11/13 - 4
12-103237527-G-C c.1096C>G p.Pro366Ala Missense 11/13 - 1
12-103237531-GAAG-G c.1092_1094del p.Leu365del InFrameDeletion 11/13 - 1
12-103237534-C-A c.1089G>T p.Lys363Asn Missense 11/13 - 1
12-103237534-C-G c.1089G>C p.Lys363Asn Missense 11/13 - 1
12-103237534-GC-G c.1089del p.Lys363Asnfs*37 Frameshift 11/13 - 3
12-103237538-G-A c.1085C>T p.Pro362Leu Missense 11/13 - 1
12-103237539-G-A c.1084C>T p.Pro362Ser Missense 11/13 - 1
12-103237539-G-T c.1084C>A p.Pro362Thr Missense 11/13 - 2
12-103237547-G-A c.1076C>T p.Ser359Leu Missense 11/13 - 2
12-103237548-A-C c.1075T>G p.Ser359Ala Missense 11/13 - 3
12-103237552-G-T c.1071C>A p.Cys357* Nonsense 11/13 - 1
12-103237553-C-T c.1070G>A p.Cys357Tyr Missense 11/13 - 2
12-103237554-A-C c.1069T>G p.Cys357Gly Missense 11/13 - 1
12-103237555-G-C c.1068C>G p.Tyr356* Nonsense 11/13 - 17
12-103237555-G-T c.1068C>A p.Tyr356* Nonsense 11/13 - 24
12-103237557-A-C c.1066T>G p.Tyr356Asp Missense 11/13 - 1
12-103237557-A-G c.1066T>C p.Tyr356His Missense 11/13 - 1
12-103237557-A-T c.1066T>A p.Tyr356Asn Missense 11/13 - 1
12-103237558-C-A c.1066-1G>T - IntronicSNV - 10/12 1
12-103237558-C-G c.1066-1G>C - IntronicSNV - 10/12 1
12-103237558-C-T c.1066-1G>A - IntronicSNV - 10/12 1
12-103237560-G-A c.1066-3C>T - IntronicSNV - 10/12 7
12-103237568-C-T c.1066-11G>A - IntronicSNV - 10/12 32
12-103237570-AA-A c.1066-12del - IntronicDeletion - 10/12 2
12-103237570-A-C c.1066-13T>G - IntronicSNV - 10/12 1
12-103237572-T-G c.1066-15A>C - IntronicSNV - 10/12 1
12-103238017-C-T c.1065+97G>A - IntronicSNV - 10/12 1
12-103238113-C-T c.1065+1G>A - IntronicSNV - 10/12 2
12-103238119-AA-A c.1061del p.Leu354Tyrfs*46 Frameshift 10/13 - 1
12-103238125-C-A c.1054G>T p.Gly352Cys Missense 10/13 - 2
12-103238125-CC-C c.1055del p.Gly352Valfs*48 Frameshift 10/13 - 6
12-103238125-C-G c.1054G>C p.Gly352Arg Missense 10/13 - 3
12-103238130-G-T c.1049C>A p.Ser350Tyr Missense 10/13 - 2
12-103238131-A-T c.1048T>A p.Ser350Thr Missense 10/13 - 1
12-103238133-G-A c.1046C>T p.Ser349Leu Missense 10/13 - 2
12-103238133-TG-T c.1046del p.Ser349Tyrfs*51 Frameshift 10/13 - 1
12-103238134-A-C c.1045T>G p.Ser349Ala Missense 10/13 - 10
12-103238134-A-G c.1045T>C p.Ser349Pro Missense 10/13 - 16
12-103238137-G-C c.1042C>G p.Leu348Val Missense 10/13 - 18
12-103238139-AG-GC c.1039_1040delinsGC p.Leu347Ala Missense 10/13 - 1
12-103238139-A-T c.1040T>A p.Leu347His Missense 10/13 - 1
12-103238140-G-A c.1039C>T p.Leu347Phe Missense 10/13 - 1
12-103238143-C-G c.1036G>C p.Gly346Arg Missense 10/13 - 1
12-103238143-C-T c.1036G>A p.Gly346Arg Missense 10/13 - 1
12-103238146-C-A c.1033G>T p.Ala345Ser Missense 10/13 - 2
12-103238146-C-T c.1033G>A p.Ala345Thr Missense 10/13 - 4
12-103238148-C-T c.1031G>A p.Gly344Asp Missense 10/13 - 2
12-103238149-C-G c.1030G>C p.Gly344Arg Missense 10/13 - 2
12-103238149-C-T c.1030G>A p.Gly344Ser Missense 10/13 - 2
12-103238150-A-T c.1029T>A p.Tyr343* Nonsense 10/13 - 1
12-103238151-T-C c.1028A>G p.Tyr343Cys Missense 10/13 - 2
12-103238155-C-G c.1024G>C p.Ala342Pro Missense 10/13 - 3
12-103238155-C-T c.1024G>A p.Ala342Thr Missense 10/13 - 3
12-103238156-C-A c.1023G>T p.Lys341Asn Missense 10/13 - 1
12-103238156-CC-C c.1024del p.Ala342Hisfs*58 Frameshift 10/13 - 1
12-103238156-C-G c.1023G>C p.Lys341Asn Missense 10/13 - 1
12-103238157-T-C c.1022A>G p.Lys341Arg Missense 10/13 - 1
12-103238157-T-G c.1022A>C p.Lys341Thr Missense 10/13 - 1
12-103238160-A-G c.1019T>C p.Ile340Thr Missense 10/13 - 1
12-103238163-G-A c.1016C>T p.Ser339Phe Missense 10/13 - 1
12-103238163-G-GG c.1017dup p.Ile340Hisfs*14 Frameshift 10/13 - 1
12-103238167-C-A c.1012G>T p.Asp338Tyr Missense 10/13 - 3
12-103238173-G-A c.1006C>T p.Gln336* Nonsense 10/13 - 2
12-103238176-T-C c.1003A>G p.Lys335Glu Missense 10/13 - 1
12-103238179-A-T c.1000T>A p.Cys334Ser Missense 10/13 - 1
12-103238182-G-A c.997C>T p.Leu333Phe Missense 10/13 - 2
12-103238185-C-T c.994G>A p.Gly332Arg Missense 10/13 - 2
12-103238187-A-C c.992T>G p.Phe331Cys Missense 10/13 - 1
12-103238187-A-G c.992T>C p.Phe331Ser Missense 10/13 - 8
12-103238186-A-C c.993T>G p.Phe331Leu Missense 10/13 - 1
12-103238186-A-T c.993T>A p.Phe331Leu Missense 10/13 - 1
12-103238188-A-G c.991T>C p.Phe331Leu Missense 10/13 - 1
12-103238189-C-A c.990G>T p.Glu330Asp Missense 10/13 - 2
12-103238189-C-G c.990G>C p.Glu330Asp Missense 10/13 - 2
12-103238191-C-T c.988G>A p.Glu330Lys Missense 10/13 - 1
12-103238194-ACA-A c.986_987del p.Val329Glyfs*24 Frameshift 10/13 - 1
12-103238196-G-T c.983C>A p.Thr328Asn Missense 10/13 - 1
12-103238197-T-C c.982A>G p.Thr328Ala Missense 10/13 - 1
12-103238198-A-G c.981T>C p.Phe327Phe Synonymous 10/13 - 2
12-103238198-A-C c.981T>G p.Phe327Leu Missense 10/13 - 1
12-103238198-A-T c.981T>A p.Phe327Leu Missense 10/13 - 1
12-103238200-A-G c.979T>C p.Phe327Leu Missense 10/13 - 1
12-103238202-C-T c.977G>A p.Trp326* Nonsense 10/13 - 5
12-103238204-G-C c.975C>G p.Tyr325* Nonsense 10/13 - 4
12-103238205-T-C c.974A>G p.Tyr325Cys Missense 10/13 - 1
12-103238208-A-T c.971T>A p.Ile324Asn Missense 10/13 - 5
12-103238210-C-A c.970-1G>T - IntronicSNV - 9/12 1
12-103238211-T-C c.970-2A>G - IntronicSNV - 9/12 2
12-103238404-C-T c.970-195G>A - IntronicSNV - 9/12 1
12-103240067-C-T c.969+606G>A - IntronicSNV - 9/12 1
12-103240630-C-A c.969+43G>T - IntronicSNV - 9/12 1
12-103240668-C-T c.969+5G>A - IntronicSNV - 9/12 2
12-103240673-CTGT-C c.967_969del p.Thr323del SpliceDonorDeletion 9/13 - 5
12-103240677-G-C c.965C>G p.Ala322Gly Missense 9/13 - 3
12-103240677-G-T c.965C>A p.Ala322Asp Missense 9/13 - 1
12-103240678-C-T c.964G>A p.Ala322Thr Missense 9/13 - 3
12-103240679-G-A c.963C>T p.Leu321Leu Synonymous 9/13 - 2
12-103240681-G-A c.961C>T p.Leu321Phe Missense 9/13 - 2
12-103240681-G-T c.961C>A p.Leu321Ile Missense 9/13 - 1
12-103240682-C-A c.960G>T p.Lys320Asn Missense 9/13 - 2
12-103240682-C-G c.960G>C p.Lys320Asn Missense 9/13 - 2
12-103240689-A-G c.953T>C p.Ile318Thr Missense 9/13 - 1
12-103240699-C-A c.943G>T p.Asp315Tyr Missense 9/13 - 1
12-103240701-G-A c.941C>T p.Pro314Leu Missense 9/13 - 1
12-103240701-G-T c.941C>A p.Pro314His Missense 9/13 - 3
12-103240702-G-A c.940C>T p.Pro314Ser Missense 9/13 - 2
12-103240702-G-T c.940C>A p.Pro314Thr Missense 9/13 - 3
12-103240704-G-A c.938C>T p.Ala313Val Missense 9/13 - 1
12-103240705-C-A c.937G>T p.Ala313Ser Missense 9/13 - 1
12-103240705-C-T c.937G>A p.Ala313Thr Missense 9/13 - 4
12-103240707-C-A c.935G>T p.Gly312Val Missense 9/13 - 3
12-103240707-C-T c.935G>A p.Gly312Asp Missense 9/13 - 1
12-103240708-C-A c.934G>T p.Gly312Cys Missense 9/13 - 2
12-103240708-C-G c.934G>C p.Gly312Arg Missense 9/13 - 1
12-103240708-C-T c.934G>A p.Gly312Ser Missense 9/13 - 1
12-103240710-A-G c.932T>C p.Leu311Pro Missense 9/13 - 7
12-103240710-AG-TC c.931_932delinsGA p.Leu311Glu Missense 9/13 - 1
12-103240713-G-A c.929C>T p.Ser310Phe Missense 9/13 - 6
12-103240713-G-C c.929C>G p.Ser310Cys Missense 9/13 - 1
12-103240713-G-T c.929C>A p.Ser310Tyr Missense 9/13 - 2
12-103240714-GAG-G c.931_932del p.Leu311Glyfs*4 Frameshift 9/13 - 1
12-103240716-G-A c.926C>T p.Ala309Val Missense 9/13 - 6
12-103240716-G-T c.926C>A p.Ala309Asp Missense 9/13 - 2
12-103240720-G-A c.922C>T p.Leu308Phe Missense 9/13 - 3
12-103240720-G-C c.922C>G p.Leu308Val Missense 9/13 - 1
12-103240722-C-G c.920G>C p.Gly307Ala Missense 9/13 - 1
12-103240722-C-T c.920G>A p.Gly307Asp Missense 9/13 - 1
12-103240723-CC-C c.920del p.Gly307Alafs*34 Frameshift 9/13 - 1
12-103240726-T-C c.916A>G p.Ile306Val Missense 9/13 - 10
12-103240728-TT-T c.916del p.Ile306Leufs*35 Frameshift 9/13 - 1
12-103240731-T-C c.913-2A>G - IntronicSNV - 8/12 1
12-103240736-T-C c.913-7A>G - IntronicSNV - 8/12 5
12-103241070-T-C c.913-341A>G - IntronicSNV - 8/12 2
12-103241188-A-G c.913-459T>C - IntronicSNV - 8/12 1
12-103244013-G-A c.912+1452C>T - IntronicSNV - 8/12 1
12-103244013-G-T c.912+1452C>A - IntronicSNV - 8/12 1
12-103245464-C-T c.912+1G>A - IntronicSNV - 8/12 2
12-103245465-C-T c.912G>A p.Gln304Gln Synonymous 8/13 - 1
12-103245466-T-C c.911A>G p.Gln304Arg Missense 8/13 - 2
12-103245467-G-T c.910C>A p.Gln304Lys Missense 8/13 - 2
12-103245470-A-C c.907T>G p.Ser303Ala Missense 8/13 - 2
12-103245470-A-G c.907T>C p.Ser303Pro Missense 8/13 - 2
12-103245473-AA-A c.907del p.Ser303Profs*38 Frameshift 8/13 - 1
12-103245473-A-C c.904T>G p.Phe302Val Missense 8/13 - 1
12-103245478-G-A c.899C>T p.Ala300Val Missense 8/13 - 2
12-103245479-C-A c.898G>T p.Ala300Ser Missense 8/13 - 21
12-103245481-A-C c.896T>G p.Phe299Cys Missense 8/13 - 8
12-103245484-C-T c.893G>A p.Ser298Asn Missense 8/13 - 2
12-103245487-C-T c.890G>A p.Arg297His Missense 8/13 - 2
12-103245488-G-A c.889C>T p.Arg297Cys Missense 8/13 - 1
12-103245490-T-C c.887A>G p.Asp296Gly Missense 8/13 - 2
12-103245491-C-G c.886G>C p.Asp296His Missense 8/13 - 1
12-103245502-G-A c.875C>T p.Pro292Leu Missense 8/13 - 3
12-103245503-G-A c.874C>T p.Pro292Ser Missense 8/13 - 1
12-103245506-C-A c.871G>T p.Val291Leu Missense 8/13 - 1
12-103245506-C-T c.871G>A p.Val291Met Missense 8/13 - 1
12-103245508-T-A c.869A>T p.His290Leu Missense 8/13 - 1
12-103245513-C-A c.864G>T p.Leu288Phe Missense 8/13 - 1
12-103245513-C-G c.864G>C p.Leu288Phe Missense 8/13 - 1
12-103245521-C-T c.856G>A p.Glu286Lys Missense 8/13 - 2
12-103245523-TG-AG c.854delinsT p.His285Leu Missense 8/13 - 1
12-103245523-TG-GC c.853_854delinsGC p.His285Ala Missense 8/13 - 1
12-103245523-TG-TT c.853delinsA p.His285Asn Missense 8/13 - 1
12-103245524-G-A c.853C>T p.His285Tyr Missense 8/13 - 3
12-103245529-A-T c.848T>A p.Ile283Asn Missense 8/13 - 1
12-103245530-T-A c.847A>T p.Ile283Phe Missense 8/13 - 4
12-103245532-T-C c.845A>G p.Asp282Gly Missense 8/13 - 2
12-103245533-C-T c.844G>A p.Asp282Asn Missense 8/13 - 4
12-103245546-GAAAG-G c.843-13_843-10del - IntronicDeletion - 7/12 1
12-103245802-A-G c.843-268T>C - IntronicSNV - 7/12 1
12-103246588-C-T c.842+5G>A - IntronicSNV - 7/12 2
12-103246589-T-C c.842+4A>G - IntronicSNV - 7/12 1
12-103246590-C-G c.842+3G>C - IntronicSNV - 7/12 4
12-103246591-A-T c.842+2T>A - IntronicSNV - 7/12 2
12-103246592-ACGG-A c.841_842+1del - SpliceDonorDeletion 7/13 7/12 1
12-103246592-C-T c.842+1G>A - IntronicSNV - 7/12 9
12-103246593-G-A c.842C>T p.Pro281Leu Missense 7/13 - 39
12-103246593-G-C c.842C>G p.Pro281Arg Missense 7/13 - 1
12-103246594-G-A c.841C>T p.Pro281Ser Missense 7/13 - 4
12-103246594-G-C c.841C>G p.Pro281Ala Missense 7/13 - 2
12-103246594-G-GA c.840_841insT p.Pro281Serfs*2 SpliceDonorInsertion 7/13 - 1
12-103246594-G-GC c.840_841insG p.Pro281Alafs*2 SpliceDonorInsertion 7/13 - 1
12-103246596-T-C c.839A>G p.Glu280Gly Missense 7/13 - 3
12-103246596-T-TT c.840dup p.Pro281Thrfs*2 SpliceDonorInsertion 7/13 - 1
12-103246597-C-A c.838G>T p.Glu280* Nonsense 7/13 - 1
12-103246597-C-G c.838G>C p.Glu280Gln Missense 7/13 - 1
12-103246597-C-T c.838G>A p.Glu280Lys Missense 7/13 - 31
12-103246602-G-A c.833C>T p.Thr278Ile Missense 7/13 - 5
12-103246602-GG-G c.837del p.Glu280Asnfs*61 Frameshift 7/13 - 1
12-103246602-G-T c.833C>A p.Thr278Asn Missense 7/13 - 6
12-103246603-T-C c.832A>G p.Thr278Ala Missense 7/13 - 2
12-103246604-TATACATGGGCT-T c.822_832del p.Lys274Asnfs*5 Frameshift 7/13 - 1
12-103246605-T-C c.830A>G p.Tyr277Cys Missense 7/13 - 2
12-103246606-A-C c.829T>G p.Tyr277Asp Missense 7/13 - 9
12-103246607-C-A c.828G>T p.Met276Ile Missense 7/13 - 1
12-103246607-C-G c.828G>C p.Met276Ile Missense 7/13 - 1
12-103246607-C-T c.828G>A p.Met276Ile Missense 7/13 - 1
12-103246608-A-C c.827T>G p.Met276Arg Missense 7/13 - 3
12-103246608-A-T c.827T>A p.Met276Lys Missense 7/13 - 5
12-103246609-T-C c.826A>G p.Met276Val Missense 7/13 - 1
12-103246611-G-A c.824C>T p.Pro275Leu Missense 7/13 - 2
12-103246611-G-C c.824C>G p.Pro275Arg Missense 7/13 - 1
12-103246612-G-A c.823C>T p.Pro275Ser Missense 7/13 - 3
12-103246612-G-C c.823C>G p.Pro275Ala Missense 7/13 - 1
12-103246612-G-T c.823C>A p.Pro275Thr Missense 7/13 - 1
12-103246615-T-C c.820A>G p.Lys274Glu Missense 7/13 - 3
12-103246617-G-A c.818C>T p.Ser273Phe Missense 7/13 - 2
12-103246621-C-A c.814G>T p.Gly272* Nonsense 7/13 - 8
12-103246623-T-A c.812A>T p.His271Leu Missense 7/13 - 2
12-103246623-T-C c.812A>G p.His271Arg Missense 7/13 - 2
12-103246625-T-A c.810A>T p.Arg270Ser Missense 7/13 - 2
12-103246625-TCT-CAT c.809_810delinsTG p.Arg270Met Missense 7/13 - 3
12-103246625-T-G c.810A>C p.Arg270Ser Missense 7/13 - 2
12-103246626-C-T c.809G>A p.Arg270Lys Missense 7/13 - 7
12-103246627-T-C c.808A>G p.Arg270Gly Missense 7/13 - 1
12-103246629-A-T c.806T>A p.Ile269Asn Missense 7/13 - 1
12-103246629-GA-G c.806del p.Ile269Thrfs*72 Frameshift 7/13 - 2
12-103246630-T-G c.805A>C p.Ile269Leu Missense 7/13 - 1
12-103246631-G-C c.804C>G p.Tyr268* Nonsense 7/13 - 1
12-103246631-G-T c.804C>A p.Tyr268* Nonsense 7/13 - 1
12-103246633-A-G c.802T>C p.Tyr268His Missense 7/13 - 1
12-103246635-T-A c.800A>T p.Gln267Leu Missense 7/13 - 3
12-103246636-G-A c.799C>T p.Gln267* Nonsense 7/13 - 1
12-103246636-G-C c.799C>G p.Gln267Glu Missense 7/13 - 1
12-103246638-G-A c.797C>T p.Thr266Ile Missense 7/13 - 1
12-103246638-GT-GA c.796delinsT p.Thr266Ser Missense 7/13 - 1
12-103246639-T-G c.796A>C p.Thr266Pro Missense 7/13 - 1
12-103246640-G-T c.795C>A p.Cys265* Nonsense 7/13 - 1
12-103246641-C-T c.794G>A p.Cys265Tyr Missense 7/13 - 1
12-103246642-A-C c.793T>G p.Cys265Gly Missense 7/13 - 1
12-103246644-T-A c.791A>T p.His264Leu Missense 7/13 - 1
12-103246647-A-G c.788T>C p.Phe263Ser Missense 7/13 - 13
12-103246646-G-C c.789C>G p.Phe263Leu Missense 7/13 - 1
12-103246648-A-G c.787T>C p.Phe263Leu Missense 7/13 - 1
12-103246650-A-C c.785T>G p.Val262Gly Missense 7/13 - 1
12-103246653-C-G c.782G>C p.Arg261Pro Missense 7/13 - 4
12-103246653-C-T c.782G>A p.Arg261Gln Missense 7/13 - 65
12-103246654-G-A c.781C>T p.Arg261* Nonsense 7/13 - 30
12-103246654-G-C c.781C>G p.Arg261Gly Missense 7/13 - 2
12-103246657-A-T c.778T>A p.Phe260Ile Missense 7/13 - 1
12-103246659-G-A c.776C>T p.Ala259Val Missense 7/13 - 6
12-103246660-C-T c.775G>A p.Ala259Thr Missense 7/13 - 4
12-103246665-C-A c.770G>T p.Gly257Val Missense 7/13 - 8
12-103246665-C-T c.770G>A p.Gly257Asp Missense 7/13 - 3
12-103246666-C-T c.769G>A p.Gly257Ser Missense 7/13 - 1
12-103246671-A-C c.764T>G p.Leu255Trp Missense 7/13 - 1
12-103246671-A-G c.764T>C p.Leu255Ser Missense 7/13 - 14
12-103246672-A-C c.763T>G p.Leu255Val Missense 7/13 - 3
12-103246675-A-T c.760T>A p.Phe254Ile Missense 7/13 - 1
12-103246680-C-G c.755G>C p.Arg252Pro Missense 7/13 - 1
12-103246680-C-T c.755G>A p.Arg252Gln Missense 7/13 - 14
12-103246681-G-A c.754C>T p.Arg252Trp Missense 7/13 - 27
12-103246681-G-C c.754C>G p.Arg252Gly Missense 7/13 - 4
12-103246686-G-A c.749C>T p.Ser250Phe Missense 7/13 - 1
12-103246690-AG-A c.745del p.Leu249Phefs*92 Frameshift 7/13 - 1
12-103246690-G-A c.745C>T p.Leu249Phe Missense 7/13 - 7
12-103246692-A-C c.743T>G p.Leu248Arg Missense 7/13 - 1
12-103246692-A-G c.743T>C p.Leu248Pro Missense 7/13 - 1
12-103246693-G-C c.742C>G p.Leu248Val Missense 7/13 - 1
12-103246695-C-A c.740G>T p.Gly247Val Missense 7/13 - 13
12-103246695-C-T c.740G>A p.Gly247Asp Missense 7/13 - 1
12-103246696-C-G c.739G>C p.Gly247Arg Missense 7/13 - 8
12-103246696-C-T c.739G>A p.Gly247Ser Missense 7/13 - 2
12-103246698-AG-A c.737del p.Ala246Valfs*95 Frameshift 7/13 - 1
12-103246698-G-A c.737C>T p.Ala246Val Missense 7/13 - 2
12-103246698-G-T c.737C>A p.Ala246Asp Missense 7/13 - 1
12-103246700-C-A c.735G>T p.Val245Val Synonymous 7/13 - 8
12-103246700-CAC-ATC c.734_735delinsAT p.Val245Asp Missense 7/13 - 3
12-103246700-C-G c.735G>C p.Val245Val Synonymous 7/13 - 12
12-103246700-C-T c.735G>A p.Val245Val Synonymous 7/13 - 14
12-103246701-A-G c.734T>C p.Val245Ala Missense 7/13 - 11
12-103246701-A-T c.734T>A p.Val245Glu Missense 7/13 - 3
12-103246702-C-G c.733G>C p.Val245Leu Missense 7/13 - 3
12-103246702-C-T c.733G>A p.Val245Met Missense 7/13 - 1
12-103246704-G-A c.731C>T p.Pro244Leu Missense 7/13 - 3
12-103246705-G-A c.730C>T p.Pro244Ser Missense 7/13 - 1
12-103246705-G-GAA c.729_730insTT p.Pro244Phefs*98 Frameshift 7/13 - 1
12-103246707-C-A c.728G>T p.Arg243Leu Missense 7/13 - 3
12-103246707-C-T c.728G>A p.Arg243Gln Missense 7/13 - 45
12-103246708-G-A c.727C>T p.Arg243* Nonsense 7/13 - 25
12-103246711-G-A c.724C>T p.Leu242Phe Missense 7/13 - 6
12-103246712-GC-AA c.722_723delinsTT p.Arg241Leu Missense 7/13 - 1
12-103246713-C-A c.722G>T p.Arg241Leu Missense 7/13 - 1
12-103246713-C-T c.722G>A p.Arg241His Missense 7/13 - 14
12-103246713-GC-G c.722del p.Arg241Profs*100 Frameshift 7/13 - 6
12-103246714-G-A c.721C>T p.Arg241Cys Missense 7/13 - 31
12-103246719-C-A c.716G>T p.Gly239Val Missense 7/13 - 2
12-103246719-C-G c.716G>C p.Gly239Ala Missense 7/13 - 4
12-103246719-C-T c.716G>A p.Gly239Asp Missense 7/13 - 5
12-103246723-T-C c.712A>G p.Thr238Ala Missense 7/13 - 2
12-103246723-T-G c.712A>C p.Thr238Pro Missense 7/13 - 1
12-103246727-AG-TG c.708delinsA p.Thr236Thr Missense 7/13 - 1
12-103246729-C-T c.707-1G>A - IntronicSNV - 6/12 3
12-103247564-T-A c.707-836A>T - IntronicSNV - 6/12 1
12-103247653-A-T c.707-925T>A - IntronicSNV - 6/12 1
12-103248779-AGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTT-A c.706+77_706+135del - SpliceDonorDeletion - 6/12 1
12-103248917-G-A c.703C>T p.Gln235* Nonsense 6/13 - 3
12-103248921-G-C c.699C>G p.Phe233Leu Missense 6/13 - 1
12-103248921-G-T c.699C>A p.Phe233Leu Missense 6/13 - 1
12-103248924-C-G c.696G>C p.Gln232His Missense 6/13 - 3
12-103248924-C-T c.696G>A p.Gln232Gln Synonymous 6/13 - 10
12-103248926-G-A c.694C>T p.Gln232* Nonsense 6/13 - 7
12-103248928-G-A c.692C>T p.Ser231Phe Missense 6/13 - 2
12-103248929-A-AC c.690_691insG p.Ser231Valfs*52 Frameshift 6/13 - 1
12-103248929-A-G c.691T>C p.Ser231Pro Missense 6/13 - 4
12-103248931-A-C c.689T>G p.Val230Gly Missense 6/13 - 1
12-103248932-C-T c.688G>A p.Val230Ile Missense 6/13 - 12
12-103248934-T-C c.686A>G p.Asp229Gly Missense 6/13 - 3
12-103248934-T-TT c.686dup p.Asp229Glufs*54 Frameshift 6/13 - 1
12-103248936-T-A c.684A>T p.Glu228Asp Missense 6/13 - 1
12-103248936-T-G c.684A>C p.Glu228Asp Missense 6/13 - 1
12-103248937-T-C c.683A>G p.Glu228Gly Missense 6/13 - 1
12-103248938-C-T c.682G>A p.Glu228Lys Missense 6/13 - 3
12-103248940-A-T c.680T>A p.Leu227Gln Missense 6/13 - 1
12-103248941-G-C c.679C>G p.Leu227Val Missense 6/13 - 1
12-103248942-C-A c.678G>T p.Gln226His Missense 6/13 - 2
12-103248942-C-G c.678G>C p.Gln226His Missense 6/13 - 2
12-103248943-T-A c.677A>T p.Gln226Leu Missense 6/13 - 1
12-103248944-G-T c.676C>A p.Gln226Lys Missense 6/13 - 1
12-103248947-G-T c.673C>A p.Pro225Thr Missense 6/13 - 2
12-103248949-A-G c.671T>C p.Ile224Thr Missense 6/13 - 1
12-103248951-TG-T c.669del p.Asn223Lysfs*118 Frameshift 6/13 - 1
12-103248952-T-A c.668A>T p.Asn223Ile Missense 6/13 - 1
12-103248954-ATC-TAA c.664_666delinsTTA p.Asp222Leu Nonsense 6/13 - 2
12-103248955-T-A c.665A>T p.Asp222Val Missense 6/13 - 1
12-103248955-T-C c.665A>G p.Asp222Gly Missense 6/13 - 4
12-103248956-TCT-T c.664_665del p.Asp222* Frameshift 6/13 - 6
12-103248958-T-C c.662A>G p.Glu221Gly Missense 6/13 - 1
12-103248961-T-G c.659A>C p.His220Pro Missense 6/13 - 2
12-103248967-C-A c.653G>T p.Gly218Val Missense 6/13 - 5
12-103248967-C-T c.653G>A p.Gly218Asp Missense 6/13 - 1
12-103248970-C-T c.650G>A p.Cys217Tyr Missense 6/13 - 2
12-103248972-G-C c.648C>G p.Tyr216* Nonsense 6/13 - 2
12-103248972-G-T c.648C>A p.Tyr216* Nonsense 6/13 - 2
12-103248982-A-G c.638T>C p.Leu213Pro Missense 6/13 - 4
12-103248982-AG-GC c.637_638delinsGC p.Leu213Ala Missense 6/13 - 1
12-103248983-G-T c.637C>A p.Leu213Ile Missense 6/13 - 2
12-103248985-A-G c.635T>C p.Leu212Pro Missense 6/13 - 3
12-103248985-AG-GC c.634_635delinsGC p.Leu212Ala Missense 6/13 - 1
12-103248987-T-C c.633A>G p.Pro211Pro Synonymous 6/13 - 2
12-103248988-G-A c.632C>T p.Pro211Leu Missense 6/13 - 2
12-103248989-G-A c.631C>T p.Pro211Ser Missense 6/13 - 1
12-103248989-GG-G c.632del p.Pro211Hisfs*130 Frameshift 6/13 - 2
12-103248989-G-T c.631C>A p.Pro211Thr Missense 6/13 - 9
12-103248991-AA-GC c.628_629delinsGC p.Phe210Ala Missense 6/13 - 1
12-103248992-A-G c.628T>C p.Phe210Leu Missense 6/13 - 1
12-103249001-T-C c.619A>G p.Asn207Asp Missense 6/13 - 1
12-103249002-G-C c.618C>G p.Tyr206* Nonsense 6/13 - 2
12-103249002-G-T c.618C>A p.Tyr206* Nonsense 6/13 - 1
12-103249003-T-C c.617A>G p.Tyr206Cys Missense 6/13 - 2
12-103249005-C-G c.615G>C p.Glu205Asp Missense 6/13 - 1
12-103249006-T-G c.614A>C p.Glu205Ala Missense 6/13 - 1
12-103249008-A-C c.612T>G p.Tyr204* Nonsense 6/13 - 1
12-103249008-A-T c.612T>A p.Tyr204* Nonsense 6/13 - 1
12-103249009-ATAGCAAGCATGGGTTTTATACA-A c.592_613del p.Tyr198Serfs*136 Frameshift 6/13 - 1
12-103249009-T-C c.611A>G p.Tyr204Cys Missense 6/13 - 19
12-103249011-G-C c.609C>G p.Cys203Trp Missense 6/13 - 1
12-103249012-C-T c.608G>A p.Cys203Tyr Missense 6/13 - 3
12-103249012-C-G c.608G>C p.Cys203Ser Missense 6/13 - 1
12-103249013-A-T c.607T>A p.Cys203Ser Missense 6/13 - 1
12-103249016-C-T c.604G>A p.Ala202Thr Missense 6/13 - 1
12-103249018-T-C c.602A>G p.His201Arg Missense 6/13 - 1
12-103249018-T-G c.602A>C p.His201Pro Missense 6/13 - 1
12-103249019-G-A c.601C>T p.His201Tyr Missense 6/13 - 1
12-103249021-G-T c.599C>A p.Thr200Asn Missense 6/13 - 3
12-103249025-T-TT c.598dup p.Thr200Asnfs*6 Frameshift 6/13 - 1
12-103249029-C-A c.591G>T p.Leu197Phe Missense 6/13 - 1
12-103249029-C-G c.591G>C p.Leu197Phe Missense 6/13 - 1
12-103249030-A-T c.590T>A p.Leu197* Nonsense 6/13 - 1
12-103249037-T-TT c.584dup p.Ser196Valfs*4 Frameshift 6/13 - 1
12-103249039-A-C c.581T>G p.Leu194Arg Missense 6/13 - 1
12-103249039-A-G c.581T>C p.Leu194Pro Missense 6/13 - 3
12-103249041-GAG-G c.580_581del p.Leu194Glufs*5 Frameshift 6/13 - 3
12-103249042-G-A c.578C>T p.Thr193Ile Missense 6/13 - 1
12-103249046-T-A c.574A>T p.Lys192* Nonsense 6/13 - 1
12-103249048-AA-GC c.571_572delinsGC p.Phe191Ala Missense 6/13 - 1
12-103249051-A-G c.569T>C p.Val190Ala Missense 6/13 - 7
12-103249057-C-A c.563G>T p.Gly188Val Missense 6/13 - 1
12-103249057-C-T c.563G>A p.Gly188Asp Missense 6/13 - 2
12-103249059-C-G c.561G>C p.Trp187Cys Missense 6/13 - 2
12-103249059-C-T c.561G>A p.Trp187* Nonsense 6/13 - 3
12-103249061-A-G c.559T>C p.Trp187Arg Missense 6/13 - 1
12-103249061-A-T c.559T>A p.Trp187Arg Missense 6/13 - 1
12-103249063-G-A c.557C>T p.Thr186Ile Missense 6/13 - 1
12-103249063-G-T c.557C>A p.Thr186Lys Missense 6/13 - 1
12-103249072-T-C c.548A>G p.Glu183Gly Missense 6/13 - 1
12-103249072-TC-CT c.547_548delinsAG p.Glu183Arg Missense 6/13 - 1
12-103249073-C-G c.547G>C p.Glu183Gln Missense 6/13 - 2
12-103249076-C-T c.544G>A p.Glu182Lys Missense 6/13 - 4
12-103249084-T-G c.536A>C p.Tyr179Ser Missense 6/13 - 1
12-103249085-A-G c.535T>C p.Tyr179His Missense 6/13 - 1
12-103249085-A-T c.535T>A p.Tyr179Asn Missense 6/13 - 2
12-103249087-T-C c.533A>G p.Glu178Gly Missense 6/13 - 4
12-103249088-C-T c.532G>A p.Glu178Lys Missense 6/13 - 1
12-103249090-A-G c.530T>C p.Val177Ala Missense 6/13 - 1
12-103249091-C-G c.529G>C p.Val177Leu Missense 6/13 - 6
12-103249091-C-T c.529G>A p.Val177Met Missense 6/13 - 4
12-103249093-C-A c.527G>T p.Arg176Leu Missense 6/13 - 6
12-103249093-C-G c.527G>C p.Arg176Pro Missense 6/13 - 1
12-103249093-C-T c.527G>A p.Arg176Gln Missense 6/13 - 3
12-103249094-G-A c.526C>T p.Arg176* Nonsense 6/13 - 17
12-103249097-G-A c.523C>T p.Pro175Ser Missense 6/13 - 1
12-103249097-G-C c.523C>G p.Pro175Ala Missense 6/13 - 1
12-103249099-A-G c.521T>C p.Ile174Thr Missense 6/13 - 3
12-103249099-A-T c.521T>A p.Ile174Asn Missense 6/13 - 1
12-103249100-T-C c.520A>G p.Ile174Val Missense 6/13 - 2
12-103249103-G-T c.517C>A p.Pro173Thr Missense 6/13 - 1
12-103249104-C-A c.516G>T p.Gln172His Missense 6/13 - 1
12-103249108-C-G c.512G>C p.Gly171Ala Missense 6/13 - 1
12-103249109-C-G c.511G>C p.Gly171Arg Missense 6/13 - 1
12-103249109-C-T c.511G>A p.Gly171Arg Missense 6/13 - 1
12-103249110-A-T c.510T>A p.His170Gln Missense 6/13 - 2
12-103249110-CACTAGAATACAGGCACAAAATAGGTGTCTCAAGCAGGGCAGGGGCACAGCAGAACGCAG-C c.510-58_510del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/13 5/12 1
12-103249111-C-T c.510-1G>A - IntronicSNV - 5/12 1
12-103249112-T-C c.510-2A>G - IntronicSNV - 5/12 1
12-103257308-T-C c.509+3066A>G - IntronicSNV - 5/12 1
12-103259201-TTACCCCATCAGAAAAATGAGAAGTTATTATTGAGGCTAAACAAAATGATATATACAAAG-T c.509+1115_509+1173del - Unclassified - 5/12 2
12-103260273-T-G c.509+101A>C - IntronicSNV - 5/12 1
12-103260374-T-C c.509A>G p.His170Arg Missense 5/13 - 2
12-103260374-T-G c.509A>C p.His170Pro Missense 5/13 - 1
12-103260375-G-C c.508C>G p.His170Asp Missense 5/13 - 2
12-103260377-C-T c.506G>A p.Arg169His Missense 5/13 - 5
12-103260378-G-A c.505C>T p.Arg169Cys Missense 5/13 - 1
12-103260378-G-C c.505C>G p.Arg169Gly Missense 5/13 - 1
12-103260378-G-T c.505C>A p.Arg169Ser Missense 5/13 - 3
12-103260379-G-C c.504C>G p.Tyr168* Nonsense 5/13 - 1
12-103260379-G-T c.504C>A p.Tyr168* Nonsense 5/13 - 1
12-103260380-GT-G c.503del p.Tyr168Serfs*27 Frameshift 5/13 - 4
12-103260383-T-A c.500A>T p.Asn167Ile Missense 5/13 - 5
12-103260384-T-A c.499A>T p.Asn167Tyr Missense 5/13 - 2
12-103260385-G-C c.498C>G p.Tyr166* Nonsense 5/13 - 10
12-103260385-G-T c.498C>A p.Tyr166* Nonsense 5/13 - 5
12-103260389-G-T c.494C>A p.Ala165Asp Missense 5/13 - 1
12-103260390-C-G c.493G>C p.Ala165Pro Missense 5/13 - 2
12-103260390-C-T c.493G>A p.Ala165Thr Missense 5/13 - 2
12-103260392-A-G c.491T>C p.Ile164Thr Missense 5/13 - 2
12-103260393-T-C c.490A>G p.Ile164Val Missense 5/13 - 2
12-103260397-A-C c.486T>G p.Ala162Ala Synonymous 5/13 - 1
12-103260397-A-G c.486T>C p.Ala162Ala Synonymous 5/13 - 1
12-103260397-A-T c.486T>A p.Ala162Ala Synonymous 5/13 - 1
12-103260399-C-G c.484G>C p.Ala162Pro Missense 5/13 - 1
12-103260401-A-G c.482T>C p.Phe161Ser Missense 5/13 - 10
12-103260404-T-G c.479A>C p.Gln160Pro Missense 5/13 - 2
12-103260405-G-A c.478C>T p.Gln160* Nonsense 5/13 - 1
12-103260410-C-A c.473G>T p.Arg158Leu Missense 5/13 - 2
12-103260410-C-T c.473G>A p.Arg158Gln Missense 5/13 - 38
12-103260411-G-A c.472C>T p.Arg158Trp Missense 5/13 - 6
12-103260412-TC-AC c.471delinsT p.Arg157Ser Missense 5/13 - 5
12-103260413-C-T c.470G>A p.Arg157Lys Missense 5/13 - 2
12-103260417-C-G c.466G>C p.Ala156Pro Missense 5/13 - 4
12-103260419-C-G c.464G>C p.Arg155Pro Missense 5/13 - 2
12-103260419-C-T c.464G>A p.Arg155His Missense 5/13 - 6
12-103260421-G-C c.462C>G p.Tyr154* Nonsense 5/13 - 1
12-103260421-GG-G c.463del p.Arg155Valfs*40 Frameshift 5/13 - 1
12-103260421-G-T c.462C>A p.Tyr154* Nonsense 5/13 - 1
12-103260422-T-A c.461A>T p.Tyr154Phe Missense 5/13 - 1
12-103260423-A-G c.460T>C p.Tyr154His Missense 5/13 - 2
12-103260423-A-T c.460T>A p.Tyr154Asn Missense 5/13 - 1
12-103260425-A-G c.458T>C p.Val153Ala Missense 5/13 - 1
12-103260430-A-C c.453T>G p.Asp151Glu Missense 5/13 - 1
12-103260430-A-T c.453T>A p.Asp151Glu Missense 5/13 - 1
12-103260431-T-C c.452A>G p.Asp151Gly Missense 5/13 - 1
12-103260432-C-G c.451G>C p.Asp151His Missense 5/13 - 1
12-103260440-C-A c.443G>T p.Gly148Val Missense 5/13 - 1
12-103260441-C-G c.442G>C p.Gly148Arg Missense 5/13 - 1
12-103260441-C-T c.442G>A p.Gly148Ser Missense 5/13 - 2
12-103260442-C-T c.442-1G>A - IntronicSNV - 4/12 12
12-103260446-G-C c.442-5C>G - IntronicSNV - 4/12 2
12-103260819-T-C c.442-378A>G - IntronicSNV - 4/12 1
12-103271193-G-A c.441+47C>T - IntronicSNV - 4/12 3
12-103271235-C-A c.441+5G>T - IntronicSNV - 4/12 11
12-103271238-A-C c.441+2T>G - IntronicSNV - 4/12 1
12-103271239-AC-A c.441+1del - IntronicDeletion - 4/12 1
12-103271239-C-G c.441+1G>C - IntronicSNV - 4/12 1
12-103271239-C-T c.441+1G>A - IntronicSNV - 4/12 1
12-103271240-A-G c.441T>C p.Pro147Pro Synonymous 4/13 - 1
12-103271241-G-A c.440C>T p.Pro147Leu Missense 4/13 - 4
12-103271242-G-A c.439C>T p.Pro147Ser Missense 4/13 - 1
12-103271245-G-A c.436C>T p.His146Tyr Missense 4/13 - 1
12-103271247-T-A c.434A>T p.Asp145Val Missense 4/13 - 4
12-103271253-T-A c.428A>T p.Asp143Val Missense 4/13 - 1
12-103271253-T-C c.428A>G p.Asp143Gly Missense 4/13 - 2
12-103271256-AG-GC c.424_425delinsGC p.Leu142Ala Missense 4/13 - 1
12-103271267-A-C c.414T>G p.Tyr138* Nonsense 4/13 - 1
12-103271267-A-T c.414T>A p.Tyr138* Nonsense 4/13 - 1
12-103271267-ATA-AAG c.412_413delinsCT p.Tyr138Leu Missense 4/13 - 1
12-103271267-ATA-GAG c.412_414delinsCTC p.Tyr138Leu Missense 4/13 - 1
12-103271268-T-A c.413A>T p.Tyr138Phe Missense 4/13 - 2
12-103271268-TA-GC c.412_413delinsGC p.Tyr138Ala Missense 4/13 - 1
12-103271282-GATTG-G c.398_401del p.Asn133Argfs*61 Frameshift 4/13 - 1
12-103271292-C-T c.389G>A p.Arg130Lys Missense 4/13 - 1
12-103271295-T-C c.386A>G p.Asp129Gly Missense 4/13 - 3
12-103271301-T-C c.380A>G p.Glu127Gly Missense 4/13 - 1
12-103271302-C-T c.379G>A p.Glu127Lys Missense 4/13 - 1
12-103271304-T-C c.377A>G p.Gln126Arg Missense 4/13 - 1
12-103271308-T-A c.373A>T p.Ile125Phe Missense 4/13 - 1
12-103271310-G-A c.371C>T p.Thr124Ile Missense 4/13 - 1
12-103271311-T-C c.370A>G p.Thr124Ala Missense 4/13 - 1
12-103271317-G-A c.364C>T p.Pro122Ser Missense 4/13 - 1
12-103271320-A-C c.361T>G p.Phe121Val Missense 4/13 - 1
12-103271320-A-G c.361T>C p.Phe121Leu Missense 4/13 - 2
12-103271326-G-A c.355C>T p.Pro119Ser Missense 4/13 - 3
12-103271330-T-A c.353-2A>T - IntronicSNV - 3/12 1
12-103271330-T-C c.353-2A>G - IntronicSNV - 3/12 1
12-103271350-G-A c.353-22C>T - IntronicSNV - 3/12 4
12-103271350-G-T c.353-22C>A - IntronicSNV - 3/12 2
12-103278745-C-T c.353-7417G>A - IntronicSNV - 3/12 1
12-103280756-G-A c.352+7757C>T - IntronicSNV - 3/12 1
12-103280756-G-C c.352+7757C>G - IntronicSNV - 3/12 1
12-103282931-T-A c.352+5582A>T - IntronicSNV - 3/12 1
12-103282952-T-C c.352+5561A>G - IntronicSNV - 3/12 1
12-103283972-A-G c.352+4541T>C - IntronicSNV - 3/12 2
12-103285043-A-T c.352+3470T>A - IntronicSNV - 3/12 1
12-103288514-T-G c.351A>C p.Thr117Thr Synonymous 3/13 - 1
12-103288515-G-A c.350C>T p.Thr117Ile Missense 3/13 - 1
12-103288518-T-A c.347A>T p.Asp116Val Missense 3/13 - 1
12-103288530-AT-A c.335del p.Asp112Valfs*83 Frameshift 3/13 - 1
12-103288530-T-TT c.335dup p.Asp112Glufs*2 Frameshift 3/13 - 1
12-103288532-TC-AT c.332_333delinsAT p.Arg111His Missense 3/13 - 1
12-103288533-CG-AC c.331_332delinsGT p.Arg111Val Missense 3/13 - 1
12-103288534-G-A c.331C>T p.Arg111* Nonsense 3/13 - 27
12-103288536-G-A c.329C>T p.Ser110Leu Missense 3/13 - 1
12-103288545-T-C c.320A>G p.His107Arg Missense 3/13 - 3
12-103288548-A-G c.317T>C p.Val106Ala Missense 3/13 - 4
12-103288549-C-G c.316G>C p.Val106Leu Missense 3/13 - 1
12-103288554-G-T c.311C>A p.Ala104Asp Missense 3/13 - 13
12-103288555-C-A c.310G>T p.Ala104Ser Missense 3/13 - 1
12-103288557-C-T c.308G>A p.Gly103Asp Missense 3/13 - 2
12-103288558-C-A c.307G>T p.Gly103Cys Missense 3/13 - 1
12-103288558-C-T c.307G>A p.Gly103Ser Missense 3/13 - 1
12-103288559-A-G c.306T>C p.Ile102Ile Synonymous 3/13 - 1
12-103288560-A-G c.305T>C p.Ile102Thr Missense 3/13 - 1
12-103288562-TG-T c.303del p.Asp101Glufs*94 Frameshift 3/13 - 1
12-103288564-C-T c.301G>A p.Asp101Asn Missense 3/13 - 1
12-103288566-T-C c.299A>G p.His100Arg Missense 3/13 - 1
12-103288569-C-A c.296G>T p.Arg99Met Missense 3/13 - 1
12-103288569-C-T c.296G>A p.Arg99Lys Missense 3/13 - 1
12-103288572-A-G c.293T>C p.Leu98Ser Missense 3/13 - 1
12-103288573-A-C c.292T>G p.Leu98Val Missense 3/13 - 2
12-103288580-G-A c.285C>T p.Ile95Ile Synonymous 3/13 - 1
12-103288580-G-T c.285C>A p.Ile95Ile Synonymous 3/13 - 1
12-103288584-A-C c.281T>G p.Ile94Ser Missense 3/13 - 1
12-103288584-GATG-G c.284_286del p.Ile95del InFrameDeletion 3/13 - 9
12-103288585-T-C c.280A>G p.Ile94Val Missense 3/13 - 2
12-103288589-T-G c.276A>C p.Thr92Thr Synonymous 3/13 - 1
12-103288590-G-A c.275C>T p.Thr92Ile Missense 3/13 - 2
12-103288598-A-AC c.266_267insG p.Ala90Cysfs*12 Frameshift 3/13 - 1
12-103288600-G-A c.265C>T p.Pro89Ser Missense 3/13 - 1
12-103288600-G-GG c.266dup p.Ala90Cysfs*12 Frameshift 3/13 - 2
12-103288600-G-T c.265C>A p.Pro89Thr Missense 3/13 - 1
12-103288604-G-T c.261C>A p.Ser87Arg Missense 3/13 - 4
12-103288615-C-A c.250G>T p.Asp84Tyr Missense 3/13 - 5
12-103288624-T-G c.241A>C p.Thr81Pro Missense 3/13 - 2
12-103288632-T-A c.233A>T p.Glu78Val Missense 3/13 - 1
12-103288633-C-G c.232G>C p.Glu78Gln Missense 3/13 - 1
12-103288633-C-T c.232G>A p.Glu78Lys Missense 3/13 - 2
12-103288636-A-G c.229T>C p.Tyr77His Missense 3/13 - 2
12-103288638-T-C c.227A>G p.Glu76Gly Missense 3/13 - 2
12-103288638-T-G c.227A>C p.Glu76Ala Missense 3/13 - 2
12-103288639-C-T c.226G>A p.Glu76Lys Missense 3/13 - 1
12-103288641-T-A c.224A>T p.Asp75Val Missense 3/13 - 1
12-103288641-T-C c.224A>G p.Asp75Gly Missense 3/13 - 1
12-103288642-C-G c.223G>C p.Asp75His Missense 3/13 - 1
12-103288649-TA-GG c.215_216delinsCC p.Leu72Ser Missense 3/13 - 2
12-103288653-C-T c.212G>A p.Arg71His Missense 3/13 - 2
12-103288657-GAAG-G c.208_210del p.Ser70del InFrameDeletion 3/13 - 10
12-103288660-G-A c.205C>T p.Pro69Ser Missense 3/13 - 2
12-103288660-G-GG c.206dup p.Ser70Phefs*7 Frameshift 3/13 - 1
12-103288661-T-A c.204A>T p.Arg68Ser Missense 3/13 - 20
12-103288664-A-C c.201T>G p.Ser67Ser Synonymous 3/13 - 1
12-103288666-A-G c.199T>C p.Ser67Pro Missense 3/13 - 4
12-103288669-C-A c.196G>T p.Glu66* Nonsense 3/13 - 1
12-103288671-A-C c.194T>G p.Ile65Ser Missense 3/13 - 4
12-103288671-A-G c.194T>C p.Ile65Thr Missense 3/13 - 38
12-103288671-A-T c.194T>A p.Ile65Asn Missense 3/13 - 1
12-103288672-T-C c.193A>G p.Ile65Val Missense 3/13 - 2
12-103288673-G-C c.192C>G p.His64Gln Missense 3/13 - 1
12-103288673-G-T c.192C>A p.His64Gln Missense 3/13 - 1
12-103288673-GTG-TAA c.190_192delinsTTA p.His64Leu Nonsense 3/13 - 1
12-103288674-T-A c.191A>T p.His64Leu Missense 3/13 - 1
12-103288675-GGGT-TGGG c.187_190delinsCCCA p.Thr63_His64delinsProAsn MultiAAMissense 3/13 - 1
12-103288675-G-T c.190C>A p.His64Asn Missense 3/13 - 2
12-103288678-T-G c.187A>C p.Thr63Pro Missense 3/13 - 6
12-103288682-G-C c.183C>G p.Asn61Lys Missense 3/13 - 1
12-103288682-G-T c.183C>A p.Asn61Lys Missense 3/13 - 1
12-103288684-T-C c.181A>G p.Asn61Asp Missense 3/13 - 1
12-103288689-T-A c.176A>T p.Asp59Val Missense 3/13 - 2
12-103288690-C-A c.175G>T p.Asp59Tyr Missense 3/13 - 2
12-103288695-CTC-C c.171_172del p.Asn58* SpliceAcceptorDeletion 3/13 - 1
12-103288696-C-A c.169G>T p.Glu57* Nonsense 3/13 - 1
12-103288696-C-T c.169G>A p.Glu57Lys Missense 3/13 - 1
12-103288696-TCCT-T c.169_171del p.Glu57del InFrameDeletion 3/13 2/12 2
12-103288698-T-C c.169-2A>G - IntronicSNV - 2/12 1
12-103298371-T-A c.168+8198A>T - IntronicSNV - 2/12 1
12-103298517-A-C c.168+8052T>G - IntronicSNV - 2/12 1
12-103298517-A-G c.168+8052T>C - IntronicSNV - 2/12 1
12-103298517-A-T c.168+8052T>A - IntronicSNV - 2/12 1
12-103306564-C-G c.168+5G>C - IntronicSNV - 2/12 11
12-103306564-C-T c.168+5G>A - IntronicSNV - 2/12 2
12-103306568-C-A c.168+1G>T - IntronicSNV - 2/12 1
12-103306568-C-T c.168+1G>A - IntronicSNV - 2/12 2
12-103306569-C-A c.168G>T p.Glu56Asp Missense 2/13 - 5
12-103306569-C-T c.168G>A p.Glu56Glu Synonymous 2/13 - 1
12-103306571-C-T c.166G>A p.Glu56Lys Missense 2/13 - 1
12-103306572-CAAA-C c.163_165del p.Phe55del InFrameDeletion 2/13 - 1
12-103306573-A-G c.164T>C p.Phe55Ser Missense 2/13 - 1
12-103306572-A-C c.165T>G p.Phe55Leu Missense 2/13 - 4
12-103306572-A-T c.165T>A p.Phe55Leu Missense 2/13 - 4
12-103306574-AA-A c.165del p.Phe55Leufs*6 Frameshift 2/13 - 9
12-103306574-A-G c.163T>C p.Phe55Leu Missense 2/13 - 5
12-103306576-AA-GC c.160_161delinsGC p.Leu54Ala Missense 2/13 - 1
12-103306576-A-G c.161T>C p.Leu54Ser Missense 2/13 - 1
12-103306578-G-A c.159C>T p.Arg53Arg Synonymous 2/13 - 1
12-103306578-G-C c.159C>G p.Arg53Arg Synonymous 2/13 - 1
12-103306578-G-T c.159C>A p.Arg53Arg Synonymous 2/13 - 1
12-103306579-C-T c.158G>A p.Arg53His Missense 2/13 - 13
12-103306582-A-G c.155T>C p.Leu52Ser Missense 2/13 - 2
12-103306583-AA-A c.155del p.Leu52Cysfs*9 Frameshift 2/13 - 1
12-103306594-A-G c.143T>C p.Leu48Ser Missense 2/13 - 39
12-103306597-G-A c.140C>T p.Ala47Val Missense 2/13 - 3
12-103306597-G-T c.140C>A p.Ala47Glu Missense 2/13 - 2
12-103306598-C-T c.139G>A p.Ala47Thr Missense 2/13 - 1
12-103306601-C-T c.136G>A p.Gly46Ser Missense 2/13 - 15
12-103306603-A-G c.134T>C p.Val45Ala Missense 2/13 - 1
12-103306610-C-A c.127G>T p.Glu43* Nonsense 2/13 - 1
12-103306612-T-A c.125A>T p.Lys42Ile Missense 2/13 - 3
12-103306613-T-C c.124A>G p.Lys42Glu Missense 2/13 - 1
12-103306615-A-G c.122T>C p.Leu41Pro Missense 2/13 - 1
12-103306616-G-A c.121C>T p.Leu41Phe Missense 2/13 - 3
12-103306617-TGA-CAT c.118_120delinsATG p.Ser40Met Missense 2/13 - 2
12-103306618-G-A c.119C>T p.Ser40Leu Missense 2/13 - 2
12-103306621-A-C c.116T>G p.Phe39Cys Missense 2/13 - 1
12-103306620-G-C c.117C>G p.Phe39Leu Missense 2/13 - 14
12-103306622-AAGA-A c.116_118del p.Phe39del InFrameDeletion 2/13 - 11
12-103306624-AT-CC c.112_113delinsGG p.Ile38Gly Missense 2/13 - 1
12-103306630-G-T c.107C>A p.Ser36* Nonsense 2/13 - 1
12-103306631-A-T c.106T>A p.Ser36Thr Missense 2/13 - 1
12-103306635-G-A c.102C>T p.Ala34Ala Synonymous 2/13 - 1
12-103306635-G-C c.102C>G p.Ala34Ala Synonymous 2/13 - 1
12-103306635-G-T c.102C>A p.Ala34Ala Synonymous 2/13 - 1
12-103306651-CA-GA c.86delinsC p.Cys29Ser Missense 2/13 - 1
12-103306651-C-G c.86G>C p.Cys29Ser Missense 2/13 - 1
12-103306652-A-G c.85T>C p.Cys29Arg Missense 2/13 - 1
12-103306652-A-T c.85T>A p.Cys29Ser Missense 2/13 - 1
12-103306661-TCAATA-T c.72_76del p.Tyr24* Frameshift 2/13 - 1
12-103306669-CT-GC c.67_68delinsGC p.Ser23Ala Missense 2/13 - 2
12-103306671-T-C c.66A>G p.Thr22Thr Synonymous 2/13 - 1
12-103306672-G-T c.65C>A p.Thr22Lys Missense 2/13 - 1
12-103306672-GT-GG c.64delinsC p.Thr22Pro Missense 2/13 - 2
12-103306679-A-G c.61-3T>C - IntronicSNV - 1/12 1
12-103310715-T-C c.60+134A>G - IntronicSNV - 1/12 1
12-103310787-G-A c.60+62C>T - IntronicSNV - 1/12 2
12-103310787-G-C c.60+62C>G - IntronicSNV - 1/12 1
12-103310844-C-A c.60+5G>T - IntronicSNV - 1/12 7
12-103310849-C-G c.60G>C p.Gln20His Missense 1/13 - 3
12-103310850-T-A c.59A>T p.Gln20Leu Missense 1/13 - 1
12-103310850-T-G c.59A>C p.Gln20Pro Missense 1/13 - 2
12-103310851-G-A c.58C>T p.Gln20* Nonsense 1/13 - 2
12-103310856-AA-GC c.52_53delinsGC p.Phe18Ala Missense 1/13 - 3
12-103310859-TC-AG c.49_50delinsCT p.Asp17Leu Missense 1/13 - 1
12-103310861-AG-AA c.47delinsT p.Ser16Phe Nonsense 1/13 - 2
12-103310861-AGA-GAG c.46_48delinsCTC p.Ser16Leu Missense 1/13 - 1
12-103310863-A-C c.46T>G p.Ser16Ala Missense 1/13 - 1
12-103310863-A-G c.46T>C p.Ser16Pro Missense 1/13 - 3
12-103310865-GAG-G c.47_48del p.Ser16* Frameshift 1/13 - 8
12-103310874-C-T c.35G>A p.Gly12Asp Missense 1/13 - 3
12-103310875-C-A c.34G>T p.Gly12Cys Missense 1/13 - 1
12-103310877-A-T c.32T>A p.Leu11* Nonsense 1/13 - 1
12-103310879-G-C c.30C>G p.Gly10Gly Synonymous 1/13 - 1
12-103310879-G-GG c.30dup p.Arg13Glnfs*5 Frameshift 1/13 - 1
12-103310889-T-A c.20A>T p.Glu7Val Missense 1/13 - 1
12-103310897-CC-C c.13del p.Val5Serfs*33 Frameshift 1/13 - 1
12-103310899-C-T c.10G>A p.Ala4Thr Missense 1/13 - 1
12-103310906-C-T c.3G>A p.Met1? Missense 1/13 - 1
12-103310989-G-A c.-81C>T - 5-UTRSNV 1/13 - 1