PAH phenylalanine hydroxylase

Canonical transcript: NM_000277

1158 unique variant annotations were identified in 396 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
12-103232766-C-T c.*187G>A - 3-UTRSNV 13/13 - 3
12-103232955-TA-T c.1357del p.*453Lysfs*32 CdsStopDeletion 13/13 - 1
12-103232967-G-A c.1345C>T p.Gln449* Nonsense 13/13 - 1
12-103232968-G-A c.1344C>T p.Leu448Leu Synonymous 13/13 - 1
12-103232968-G-C c.1344C>G p.Leu448Leu Synonymous 13/13 - 1
12-103232968-G-T c.1344C>A p.Leu448Leu Synonymous 13/13 - 1
12-103232969-A-T c.1343T>A p.Leu448His Missense 13/13 - 1
12-103232972-G-T c.1340C>A p.Ala447Asp Missense 13/13 - 1
12-103232973-C-G c.1339G>C p.Ala447Pro 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 - 3
12-103232982-G-A c.1330C>T p.Leu444Phe Missense 13/13 - 1
12-103232990-A-G c.1322T>C p.Ile441Thr Missense 13/13 - 1
12-103232991-T-C c.1321A>G p.Ile441Val Missense 13/13 - 1
12-103232994-C-A c.1318G>T p.Glu440* Nonsense 13/13 - 1
12-103232996-C-T c.1316G>A p.Ser439Asn Missense 13/13 - 2
12-103232997-C-T c.1316-1G>A - IntronicSNV - 12/12 2
12-103232998-T-G c.1316-2A>C - IntronicSNV - 12/12 3
12-103233031-G-A c.1316-35C>T - IntronicSNV - 12/12 3
12-103233119-C-T c.1316-123G>A - IntronicSNV - 12/12 1
12-103234172-A-T c.1315+6T>A - IntronicSNV - 12/12 6
12-103234173-C-T c.1315+5G>A - IntronicSNV - 12/12 1
12-103234174-T-C c.1315+4A>G - IntronicSNV - 12/12 2
12-103234176-A-G c.1315+2T>C - IntronicSNV - 12/12 2
12-103234177-C-A c.1315+1G>T - IntronicSNV - 12/12 2
12-103234177-C-T c.1315+1G>A - IntronicSNV - 12/12 29
12-103234188-AA-A c.1306del p.Ser436Profs*16 Frameshift 12/13 - 1
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 - 13
12-103234194-C-T c.1299G>A p.Leu433Leu Synonymous 12/13 - 1
12-103234196-A-G c.1297T>C p.Leu433Leu Synonymous 12/13 - 1
12-103234204-A-G c.1289T>C p.Leu430Pro Missense 12/13 - 5
12-103234208-G-T c.1285C>A p.Gln429Lys Missense 12/13 - 2
12-103234213-GG-G c.1282del p.Gln428Serfs*24 Frameshift 12/13 - 1
12-103234215-A-G c.1278T>C p.Asn426Asn Synonymous 12/13 - 6
12-103234222-A-G c.1271T>C p.Leu424Ser Missense 12/13 - 2
12-103234221-C-T c.1272G>A p.Leu424Leu Synonymous 12/13 - 1
12-103234223-A-G c.1270T>C p.Leu424Leu Synonymous 12/13 - 1
12-103234224-AG-A c.1269del p.Leu424Trpfs*28 Frameshift 12/13 - 1
12-103234225-A-G c.1268T>C p.Val423Ala Missense 12/13 - 1
12-103234226-C-T c.1267G>A p.Val423Ile 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 - 5
12-103234234-C-A c.1259G>T p.Arg420Met Missense 12/13 - 1
12-103234234-C-G c.1259G>C p.Arg420Thr Missense 12/13 - 1
12-103234237-T-C c.1256A>G p.Gln419Arg Missense 12/13 - 9
12-103234237-T-G c.1256A>C p.Gln419Pro Missense 12/13 - 1
12-103234239-G-A c.1254C>T p.Thr418Thr Synonymous 12/13 - 1
12-103234239-G-T c.1254C>A p.Thr418Thr Synonymous 12/13 - 1
12-103234241-T-G c.1252A>C p.Thr418Pro Missense 12/13 - 7
12-103234243-T-C c.1250A>G p.Tyr417Cys Missense 12/13 - 1
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
12-103234248-G-A c.1245C>T p.Asp415Asp Synonymous 12/13 - 1
12-103234250-C-A c.1243G>T p.Asp415Tyr Missense 12/13 - 4
12-103234250-C-T c.1243G>A p.Asp415Asn Missense 12/13 - 17
12-103234251-G-A c.1242C>T p.Tyr414Tyr Synonymous 12/13 - 8
12-103234251-G-T c.1242C>A p.Tyr414* Nonsense 12/13 - 5
12-103234252-T-C c.1241A>G p.Tyr414Cys Missense 12/13 - 38
12-103234254-G-A c.1239C>T p.Arg413Arg Synonymous 12/13 - 1
12-103234254-G-C c.1239C>G p.Arg413Arg Synonymous 12/13 - 1
12-103234254-G-T c.1239C>A p.Arg413Arg Synonymous 12/13 - 1
12-103234255-C-G c.1238G>C p.Arg413Pro Missense 12/13 - 32
12-103234255-C-T c.1238G>A p.Arg413His Missense 12/13 - 3
12-103234256-G-A c.1237C>T p.Arg413Cys Missense 12/13 - 1
12-103234256-G-T c.1237C>A p.Arg413Ser Missense 12/13 - 1
12-103234261-G-C c.1232C>G p.Ser411* Nonsense 12/13 - 2
12-103234261-G-T c.1232C>A p.Ser411* Nonsense 12/13 - 2
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
12-103234269-CC-AT c.1223_1224delinsAT p.Arg408His Missense 12/13 - 1
12-103234269-CCG-TGT c.1222_1224delinsACA p.Arg408Thr Missense 12/13 - 1
12-103234270-C-A c.1223G>T p.Arg408Leu Missense 12/13 - 1
12-103234270-C-G c.1223G>C p.Arg408Pro Missense 12/13 - 1
12-103234270-C-T c.1223G>A p.Arg408Gln Missense 12/13 - 29
12-103234271-CG-C c.1222del p.Arg408Glyfs*44 Frameshift 12/13 - 1
12-103234271-G-A c.1222C>T p.Arg408Trp Missense 12/13 - 85
12-103234271-G-C c.1222C>G p.Arg408Gly Missense 12/13 - 1
12-103234272-A-C c.1221T>G p.Pro407Pro Synonymous 12/13 - 1
12-103234273-G-A c.1220C>T p.Pro407Leu Missense 12/13 - 2
12-103234274-G-A c.1219C>T p.Pro407Ser Missense 12/13 - 2
12-103234274-GG-G c.1220del p.Pro407Leufs*45 Frameshift 12/13 - 1
12-103234275-T-C c.1218A>G p.Ile406Met Missense 12/13 - 3
12-103234276-A-C c.1217T>G p.Ile406Arg Missense 12/13 - 1
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 - 3
12-103234277-T-C c.1216A>G p.Ile406Val Missense 12/13 - 3
12-103234278-T-G c.1215A>C p.Thr405Thr Synonymous 12/13 - 1
12-103234284-AGC-ATG c.1207_1208delinsCA p.Ala403His Missense 12/13 - 1
12-103234285-G-A c.1208C>T p.Ala403Val Missense 12/13 - 32
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
12-103234293-C-A c.1200G>T p.Arg400Ser Missense 12/13 - 1
12-103234293-C-G c.1200G>C p.Arg400Ser Missense 12/13 - 1
12-103237425-T-G c.1198A>C p.Arg400Arg Synonymous 11/13 - 1
12-103234294-C-G c.1200-1G>C - IntronicSNV - 11/12 3
12-103234294-C-T c.1200-1G>A - IntronicSNV - 11/12 2
12-103234295-T-G c.1200-2A>C - IntronicSNV - 11/12 1
12-103234296-A-C c.1200-3T>G - 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 2
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 4
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
12-103237422-A-G c.1199+2T>C - IntronicSNV - 11/12 1
12-103237423-C-G c.1199+1G>C - IntronicSNV - 11/12 9
12-103237423-C-T c.1199+1G>A - IntronicSNV - 11/12 1
12-103237424-C-G c.1199G>C p.Arg400Thr Missense 11/13 - 6
12-103237424-C-T c.1199G>A p.Arg400Lys Missense 11/13 - 9
12-103237426-T-A c.1197A>T p.Val399Val Synonymous 11/13 - 21
12-103237426-TT-T c.1198del p.Arg400Glyfs*52 Frameshift 11/13 - 1
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
12-103237427-TACTT-T c.1196_1199del p.Val399Glyfs*52 SpliceDonorDeletion 11/13 - 1
12-103237429-T-C c.1194A>G p.Lys398Lys Synonymous 11/13 - 2
12-103237437-T-C c.1186A>G p.Lys396Glu Missense 11/13 - 1
12-103237438-G-C c.1185C>G p.Ala395Ala Synonymous 11/13 - 1
12-103237439-G-C c.1184C>G p.Ala395Gly Missense 11/13 - 4
12-103237439-G-T c.1184C>A p.Ala395Asp Missense 11/13 - 2
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
12-103237445-T-C c.1178A>G p.Asn393Ser Missense 11/13 - 1
12-103237445-T-TA c.1177_1178insT p.Asn393Ilefs*2 Frameshift 11/13 - 1
12-103237446-T-G c.1177A>C p.Asn393His Missense 11/13 - 1
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 - 7
12-103237451-C-A c.1172G>T p.Ser391Ile Missense 11/13 - 2
12-103237451-C-G c.1172G>C p.Ser391Thr 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 - 26
12-103237455-TCT-T c.1171_1172del p.Ser391Phefs*2 Frameshift 11/13 - 1
12-103237457-TG-T c.1166del p.Ala389Glufs*11 Frameshift 11/13 - 1
12-103237460-A-G c.1163T>C p.Val388Ala Missense 11/13 - 1
12-103237460-CAC-C c.1163_1164del p.Val388Glyfs*5 Frameshift 11/13 - 1
12-103237461-C-G c.1162G>C p.Val388Leu Missense 11/13 - 3
12-103237461-C-T c.1162G>A p.Val388Met Missense 11/13 - 24
12-103237462-G-A c.1161C>T p.Tyr387Tyr Synonymous 11/13 - 2
12-103237462-G-T c.1161C>A p.Tyr387* Nonsense 11/13 - 1
12-103237464-A-C c.1159T>G p.Tyr387Asp Missense 11/13 - 2
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 - 6
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 - 7
12-103237468-GAG-ATG c.1154_1155delinsAT p.Leu385His Missense 11/13 - 1
12-103237468-G-C c.1155C>G p.Leu385Leu Synonymous 11/13 - 9
12-103237468-G-T c.1155C>A p.Leu385Leu Synonymous 11/13 - 8
12-103237469-A-G c.1154T>C p.Leu385Pro Missense 11/13 - 1
12-103237476-G-A c.1147C>T p.Gln383* Nonsense 11/13 - 1
12-103237477-G-A c.1146C>T p.Phe382Phe Synonymous 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
12-103237483-C-A c.1140G>T p.Thr380Thr Synonymous 11/13 - 2
12-103237483-C-T c.1140G>A p.Thr380Thr Synonymous 11/13 - 2
12-103237484-G-A c.1139C>T p.Thr380Met Missense 11/13 - 17
12-103237487-A-G c.1136T>C p.Val379Ala Missense 11/13 - 1
12-103237488-AC-A c.1135del p.Val379Serfs*21 Frameshift 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
12-103237495-AA-A c.1129del p.Tyr377Thrfs*23 Frameshift 11/13 - 1
12-103237498-T-G c.1125A>C p.Gln375His Missense 11/13 - 1
12-103237499-TT-T c.1127del p.Asn376Ilefs*24 Frameshift 11/13 - 1
12-103237500-G-C c.1123C>G p.Gln375Glu Missense 11/13 - 6
12-103237505-GGC-G c.1117_1118del p.Ala373Hisfs*20 Frameshift 11/13 - 1
12-103237505-G-T c.1118C>A p.Ala373Asp Missense 11/13 - 1
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 - 5
12-103237508-G-C c.1115C>G p.Thr372Arg Missense 11/13 - 3
12-103237509-T-A c.1114A>T p.Thr372Ser Missense 11/13 - 5
12-103237511-T-C c.1112A>G p.Lys371Arg Missense 11/13 - 1
12-103237512-T-C c.1111A>G p.Lys371Glu Missense 11/13 - 1
12-103237514-T-C c.1109A>G p.Glu370Gly Missense 11/13 - 1
12-103237518-G-A c.1105C>T p.Leu369Leu Synonymous 11/13 - 2
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-C c.1100T>G p.Leu367Arg 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 - 2
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
12-103237528-G-GG c.1099dup p.Leu367Profs*27 Frameshift 11/13 - 1
12-103237528-GG-G c.1099del p.Leu367Trpfs*33 Frameshift 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 - 2
12-103237534-GC-G c.1089del p.Lys363Asnfs*37 Frameshift 11/13 - 7
12-103237536-TTT-T c.1087_1088del p.Lys363Alafs*30 Frameshift 11/13 - 1
12-103237538-G-A c.1085C>T p.Pro362Leu Missense 11/13 - 2
12-103237539-G-A c.1084C>T p.Pro362Ser Missense 11/13 - 2
12-103237539-G-T c.1084C>A p.Pro362Thr Missense 11/13 - 4
12-103237545-C-A c.1078G>T p.Glu360* Nonsense 11/13 - 1
12-103237547-G-A c.1076C>T p.Ser359Leu Missense 11/13 - 2
12-103237547-G-C c.1076C>G p.Ser359* Nonsense 11/13 - 2
12-103237548-A-C c.1075T>G p.Ser359Ala Missense 11/13 - 3
12-103237549-T-A c.1074A>T p.Leu358Phe Missense 11/13 - 1
12-103237549-T-G c.1074A>C p.Leu358Phe Missense 11/13 - 1
12-103237552-G-T c.1071C>A p.Cys357* Nonsense 11/13 - 4
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
12-103237554-A-G c.1069T>C p.Cys357Arg Missense 11/13 - 1
12-103237555-G-A c.1068C>T p.Tyr356Tyr Synonymous 11/13 - 1
12-103237555-G-C c.1068C>G p.Tyr356* Nonsense 11/13 - 23
12-103237555-G-T c.1068C>A p.Tyr356* Nonsense 11/13 - 29
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 - 2
12-103237557-A-T c.1066T>A p.Tyr356Asn Missense 11/13 - 1
12-103237558-C-A c.1066-1G>T - IntronicSNV - 10/12 2
12-103237558-C-G c.1066-1G>C - IntronicSNV - 10/12 2
12-103237558-C-T c.1066-1G>A - IntronicSNV - 10/12 2
12-103237559-T-A c.1066-2A>T - IntronicSNV - 10/12 1
12-103237560-G-A c.1066-3C>T - IntronicSNV - 10/12 10
12-103237564-G-T c.1066-7C>A - IntronicSNV - 10/12 1
12-103237568-C-T c.1066-11G>A - IntronicSNV - 10/12 39
12-103237570-AA-A c.1066-12del - IntronicDeletion - 10/12 3
12-103237570-A-C c.1066-13T>G - IntronicSNV - 10/12 1
12-103237571-G-C c.1066-14C>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 3
12-103238107-G-T c.1065+7C>A - IntronicSNV - 10/12 1
12-103238113-C-A c.1065+1G>T - IntronicSNV - 10/12 1
12-103238113-C-T c.1065+1G>A - IntronicSNV - 10/12 2
12-103238116-G-A c.1063C>T p.Gln355* Nonsense 10/13 - 2
12-103238119-AA-A c.1061del p.Leu354Tyrfs*46 Frameshift 10/13 - 1
12-103238122-TC-T c.1057del p.Glu353Asnfs*47 Frameshift 10/13 - 1
12-103238123-CA-C c.1056del p.Glu353Asnfs*47 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 - 9
12-103238125-C-G c.1054G>C p.Gly352Arg Missense 10/13 - 4
12-103238126-CAAAGGATGACA-C c.1043_1053del p.Leu348Argfs*2 Frameshift 10/13 - 1
12-103238130-G-T c.1049C>A p.Ser350Tyr Missense 10/13 - 4
12-103238131-A-T c.1048T>A p.Ser350Thr Missense 10/13 - 1
12-103238132-T-A c.1047A>T p.Ser349Ser Synonymous 10/13 - 1
12-103238133-G-A c.1046C>T p.Ser349Leu Missense 10/13 - 2
12-103238133-G-T c.1046C>A p.Ser349* Nonsense 10/13 - 1
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 - 12
12-103238134-A-G c.1045T>C p.Ser349Pro Missense 10/13 - 19
12-103238136-A-G c.1043T>C p.Leu348Pro Missense 10/13 - 1
12-103238137-G-C c.1042C>G p.Leu348Val Missense 10/13 - 20
12-103238137-G-T c.1042C>A p.Leu348Met Missense 10/13 - 1
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-CC-C c.1038del p.Leu347Serfs*53 Frameshift 10/13 - 1
12-103238143-C-T c.1036G>A p.Gly346Arg Missense 10/13 - 2
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 - 7
12-103238147-A-C c.1032T>G p.Gly344Gly Synonymous 10/13 - 1
12-103238147-A-G c.1032T>C p.Gly344Gly Synonymous 10/13 - 1
12-103238147-A-T c.1032T>A p.Gly344Gly Synonymous 10/13 - 1
12-103238148-C-T c.1031G>A p.Gly344Asp Missense 10/13 - 4
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 - 5
12-103238150-A-T c.1029T>A p.Tyr343* Nonsense 10/13 - 2
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 - 2
12-103238155-C-T c.1024G>A p.Ala342Thr Missense 10/13 - 4
12-103238156-CC-C c.1024del p.Ala342Hisfs*58 Frameshift 10/13 - 7
12-103238156-C-G c.1023G>C p.Lys341Asn Missense 10/13 - 2
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
12-103238158-T-A c.1021A>T p.Lys341* Nonsense 10/13 - 1
12-103238160-A-G c.1019T>C p.Ile340Thr Missense 10/13 - 2
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 - 6
12-103238173-G-A c.1006C>T p.Gln336* Nonsense 10/13 - 3
12-103238173-G-C c.1006C>G p.Gln336Glu Missense 10/13 - 1
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
12-103238180-G-A c.999C>T p.Leu333Leu Synonymous 10/13 - 1
12-103238180-G-C c.999C>G p.Leu333Leu Synonymous 10/13 - 1
12-103238180-G-T c.999C>A p.Leu333Leu Synonymous 10/13 - 1
12-103238182-G-A c.997C>T p.Leu333Phe Missense 10/13 - 3
12-103238184-C-A c.995G>T p.Gly332Val Missense 10/13 - 1
12-103238184-C-T c.995G>A p.Gly332Glu Missense 10/13 - 1
12-103238185-C-T c.994G>A p.Gly332Arg Missense 10/13 - 3
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 - 9
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
12-103238194-C-T c.985G>A p.Val329Met Missense 10/13 - 1
12-103238196-G-A c.983C>T p.Thr328Ile Missense 10/13 - 2
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 - 9
12-103238203-CA-C c.976del p.Trp326Glyfs*15 Frameshift 10/13 - 1
12-103238204-G-C c.975C>G p.Tyr325* Nonsense 10/13 - 6
12-103238205-T-C c.974A>G p.Tyr325Cys Missense 10/13 - 1
12-103238208-AA-A c.973del p.Tyr325Thrfs*16 Frameshift 10/13 - 1
12-103238208-A-T c.971T>A p.Ile324Asn Missense 10/13 - 6
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 4
12-103240668-C-T c.969+5G>A - IntronicSNV - 9/12 3
12-103240672-C-T c.969+1G>A - IntronicSNV - 9/12 2
12-103240673-CTGT-C c.967_969del p.Thr323del SpliceDonorDeletion 9/13 - 8
12-103240675-GTG-G c.968_969del p.Thr323Asnfs*30 SpliceDonorDeletion 9/13 - 1
12-103240675-T-C c.967A>G p.Thr323Ala Missense 9/13 - 1
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 - 3
12-103240678-C-T c.964G>A p.Ala322Thr Missense 9/13 - 5
12-103240679-G-A c.963C>T p.Leu321Leu Synonymous 9/13 - 6
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-G c.960G>C p.Lys320Asn Missense 9/13 - 5
12-103240684-T-A c.958A>T p.Lys320* Nonsense 9/13 - 1
12-103240685-T-A c.957A>T p.Glu319Asp Missense 9/13 - 1
12-103240685-T-G c.957A>C p.Glu319Asp Missense 9/13 - 1
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 - 4
12-103240702-G-A c.940C>T p.Pro314Ser Missense 9/13 - 2
12-103240702-G-C c.940C>G p.Pro314Ala Missense 9/13 - 1
12-103240702-GG-G c.941del p.Pro314Leufs*27 Frameshift 9/13 - 1
12-103240702-G-T c.940C>A p.Pro314Thr Missense 9/13 - 5
12-103240703-GTGCACCCAGAG-G c.930_940del p.Leu311* Frameshift 9/13 - 1
12-103240704-G-A c.938C>T p.Ala313Val Missense 9/13 - 2
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 - 6
12-103240706-A-C c.936T>G p.Gly312Gly Synonymous 9/13 - 1
12-103240707-C-A c.935G>T p.Gly312Val Missense 9/13 - 4
12-103240707-C-T c.935G>A p.Gly312Asp Missense 9/13 - 2
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
12-103240709-CC-C c.935del p.Gly312Valfs*29 Frameshift 9/13 - 1
12-103240710-A-G c.932T>C p.Leu311Pro Missense 9/13 - 10
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 - 8
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 - 2
12-103240715-G-A c.927C>T p.Ala309Ala Synonymous 9/13 - 1
12-103240715-G-C c.927C>G p.Ala309Ala Synonymous 9/13 - 1
12-103240715-G-T c.927C>A p.Ala309Ala Synonymous 9/13 - 1
12-103240716-G-A c.926C>T p.Ala309Val Missense 9/13 - 9
12-103240716-G-T c.926C>A p.Ala309Asp Missense 9/13 - 3
12-103240717-C-T c.925G>A p.Ala309Thr Missense 9/13 - 1
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 - 2
12-103240723-CC-C c.920del p.Gly307Alafs*34 Frameshift 9/13 - 2
12-103240726-T-C c.916A>G p.Ile306Val Missense 9/13 - 13
12-103240728-TT-T c.916del p.Ile306Leufs*35 Frameshift 9/13 - 2
12-103240731-T-C c.913-2A>G - IntronicSNV - 8/12 2
12-103240736-T-C c.913-7A>G - IntronicSNV - 8/12 7
12-103241070-T-C c.913-341A>G - IntronicSNV - 8/12 2
12-103241188-A-G c.913-459T>C - IntronicSNV - 8/12 1
12-103242396-A-G c.913-1667T>C - IntronicSNV - 8/12 1
12-103244013-G-A c.912+1452C>T - IntronicSNV - 8/12 3
12-103244013-G-T c.912+1452C>A - IntronicSNV - 8/12 3
12-103245236-G-C c.912+229C>G - IntronicSNV - 8/12 1
12-103245449-A-T c.912+16T>A - IntronicSNV - 8/12 1
12-103245464-C-A c.912+1G>T - IntronicSNV - 8/12 1
12-103245464-C-T c.912+1G>A - IntronicSNV - 8/12 7
12-103245465-C-T c.912G>A p.Gln304Gln Synonymous 8/13 - 3
12-103245466-T-C c.911A>G p.Gln304Arg Missense 8/13 - 2
12-103245467-G-A c.910C>T p.Gln304* Nonsense 8/13 - 1
12-103245467-G-T c.910C>A p.Gln304Lys Missense 8/13 - 3
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 - 3
12-103245472-A-C c.905T>G p.Phe302Cys Missense 8/13 - 1
12-103245473-AA-A c.907del p.Ser303Profs*38 Frameshift 8/13 - 4
12-103245473-A-C c.904T>G p.Phe302Val Missense 8/13 - 1
12-103245476-G-A c.901C>T p.Gln301* Nonsense 8/13 - 3
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 - 30
12-103245481-A-C c.896T>G p.Phe299Cys Missense 8/13 - 10
12-103245484-C-T c.893G>A p.Ser298Asn Missense 8/13 - 2
12-103245486-G-C c.891C>G p.Arg297Arg Synonymous 8/13 - 1
12-103245486-GC-AA c.890_891delinsTT p.Arg297Leu Missense 8/13 - 1
12-103245486-G-T c.891C>A p.Arg297Arg Synonymous 8/13 - 1
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 - 2
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 - 2
12-103245491-C-T c.886G>A p.Asp296Asn Missense 8/13 - 1
12-103245493-G-C c.884C>G p.Ser295* Nonsense 8/13 - 1
12-103245496-A-C c.881T>G p.Phe294Cys Missense 8/13 - 1
12-103245496-A-G c.881T>C p.Phe294Ser Missense 8/13 - 1
12-103245502-G-A c.875C>T p.Pro292Leu Missense 8/13 - 4
12-103245503-G-A c.874C>T p.Pro292Ser Missense 8/13 - 2
12-103245503-G-T c.874C>A p.Pro292Thr 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 - 3
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
12-103245517-A-T c.860T>A p.Leu287Gln Missense 8/13 - 1
12-103245519-C-T c.858G>A p.Glu286Glu Synonymous 8/13 - 1
12-103245521-C-T c.856G>A p.Glu286Lys Missense 8/13 - 2
12-103245522-A-G c.855T>C p.His285His Synonymous 8/13 - 1
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 - 4
12-103245527-A-G c.850T>C p.Cys284Arg Missense 8/13 - 1
12-103245529-A-T c.848T>A p.Ile283Asn Missense 8/13 - 2
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 - 3
12-103245533-C-T c.844G>A p.Asp282Asn Missense 8/13 - 5
12-103245534-A-T c.843T>A p.Pro281Pro Synonymous 8/13 - 1
12-103245535-C-T c.843-1G>A - IntronicSNV - 7/12 1
12-103245539-A-G c.843-5T>C - IntronicSNV - 7/12 1
12-103245546-GAAAG-G c.843-13_843-10del - IntronicDeletion - 7/12 1
12-103245802-A-G c.843-268T>C - IntronicSNV - 7/12 4
12-103246261-A-G c.842+332T>C - IntronicSNV - 7/12 1
12-103246588-C-T c.842+5G>A - IntronicSNV - 7/12 4
12-103246589-T-C c.842+4A>G - IntronicSNV - 7/12 1
12-103246590-C-G c.842+3G>C - IntronicSNV - 7/12 5
12-103246590-TCACGGTTC-T c.838_842+3del - SpliceDonorDeletion 7/13 7/12 1
12-103246591-A-T c.842+2T>A - IntronicSNV - 7/12 6
12-103246592-ACGG-A c.841_842+1del - SpliceDonorDeletion 7/13 7/12 1
12-103246592-C-A c.842+1G>T - IntronicSNV - 7/12 1
12-103246592-C-T c.842+1G>A - IntronicSNV - 7/12 16
12-103246593-G-A c.842C>T p.Pro281Leu Missense 7/13 - 47
12-103246593-G-C c.842C>G p.Pro281Arg Missense 7/13 - 2
12-103246594-G-A c.841C>T p.Pro281Ser Missense 7/13 - 6
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
12-103246595-T-TA c.839_840insT p.Glu280Aspfs*3 Frameshift 7/13 - 1
12-103246596-T-C c.839A>G p.Glu280Gly Missense 7/13 - 4
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 - 2
12-103246597-C-G c.838G>C p.Glu280Gln Missense 7/13 - 4
12-103246597-C-T c.838G>A p.Glu280Lys Missense 7/13 - 39
12-103246598-G-A c.837C>T p.Pro279Pro Synonymous 7/13 - 1
12-103246598-G-C c.837C>G p.Pro279Pro Synonymous 7/13 - 1
12-103246598-G-T c.837C>A p.Pro279Pro Synonymous 7/13 - 1
12-103246602-G-A c.833C>T p.Thr278Ile Missense 7/13 - 9
12-103246602-GG-G c.837del p.Glu280Asnfs*61 Frameshift 7/13 - 3
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 - 3
12-103246604-TATACATGGGCT-T c.822_832del p.Lys274Asnfs*5 Frameshift 7/13 - 3
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 - 12
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 - 5
12-103246608-A-T c.827T>A p.Met276Lys Missense 7/13 - 6
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 - 4
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 - 4
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 - 7
12-103246617-G-A c.818C>T p.Ser273Phe Missense 7/13 - 3
12-103246621-C-A c.814G>T p.Gly272* Nonsense 7/13 - 13
12-103246622-CATGTC-C c.810_814del p.His271Ilefs*10 Frameshift 7/13 - 1
12-103246623-T-A c.812A>T p.His271Leu Missense 7/13 - 4
12-103246623-T-C c.812A>G p.His271Arg Missense 7/13 - 5
12-103246624-G-A c.811C>T p.His271Tyr Missense 7/13 - 1
12-103246625-T-A c.810A>T p.Arg270Ser Missense 7/13 - 3
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 - 3
12-103246626-C-A c.809G>T p.Arg270Ile Missense 7/13 - 1
12-103246626-C-T c.809G>A p.Arg270Lys Missense 7/13 - 10
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 - 5
12-103246630-T-C c.805A>G p.Ile269Val Missense 7/13 - 1
12-103246630-T-G c.805A>C p.Ile269Leu Missense 7/13 - 4
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 - 6
12-103246636-G-A c.799C>T p.Gln267* Nonsense 7/13 - 3
12-103246636-G-C c.799C>G p.Gln267Glu Missense 7/13 - 2
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 - 2
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
12-103246642-A-G c.793T>C p.Cys265Arg Missense 7/13 - 2
12-103246644-T-A c.791A>T p.His264Leu Missense 7/13 - 1
12-103246645-G-T c.790C>A p.His264Asn 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 - 4
12-103246650-A-C c.785T>G p.Val262Gly Missense 7/13 - 1
12-103246653-C-A c.782G>T p.Arg261Leu Missense 7/13 - 4
12-103246653-C-G c.782G>C p.Arg261Pro Missense 7/13 - 8
12-103246653-C-T c.782G>A p.Arg261Gln Missense 7/13 - 76
12-103246652-T-A c.783A>T p.Arg261Arg Synonymous 7/13 - 1
12-103246652-T-C c.783A>G p.Arg261Arg Synonymous 7/13 - 1
12-103246652-T-G c.783A>C p.Arg261Arg Synonymous 7/13 - 1
12-103246654-G-A c.781C>T p.Arg261* Nonsense 7/13 - 38
12-103246654-G-C c.781C>G p.Arg261Gly Missense 7/13 - 4
12-103246654-G-T c.781C>A p.Arg261Arg Synonymous 7/13 - 1
12-103246655-G-C c.780C>G p.Phe260Leu Missense 7/13 - 1
12-103246655-G-T c.780C>A p.Phe260Leu Missense 7/13 - 1
12-103246657-A-G c.778T>C p.Phe260Leu Missense 7/13 - 1
12-103246657-A-T c.778T>A p.Phe260Ile Missense 7/13 - 2
12-103246659-G-A c.776C>T p.Ala259Val Missense 7/13 - 7
12-103246660-C-T c.775G>A p.Ala259Thr Missense 7/13 - 7
12-103246661-C-A c.774G>T p.Leu258Leu Synonymous 7/13 - 2
12-103246661-C-G c.774G>C p.Leu258Leu Synonymous 7/13 - 2
12-103246661-C-T c.774G>A p.Leu258Leu Synonymous 7/13 - 2
12-103246663-G-A c.772C>T p.Leu258Leu Synonymous 7/13 - 3
12-103246664-G-A c.771C>T p.Gly257Gly Synonymous 7/13 - 1
12-103246664-G-C c.771C>G p.Gly257Gly Synonymous 7/13 - 1
12-103246664-G-T c.771C>A p.Gly257Gly Synonymous 7/13 - 1
12-103246665-C-A c.770G>T p.Gly257Val Missense 7/13 - 9
12-103246665-C-T c.770G>A p.Gly257Asp Missense 7/13 - 3
12-103246666-C-A c.769G>T p.Gly257Cys Missense 7/13 - 1
12-103246666-C-T c.769G>A p.Gly257Ser Missense 7/13 - 2
12-103246668-C-A c.767G>T p.Gly256Val 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 - 16
12-103246672-A-C c.763T>G p.Leu255Val Missense 7/13 - 4
12-103246675-A-T c.760T>A p.Phe254Ile Missense 7/13 - 1
12-103246678-C-T c.757G>A p.Asp253Asn Missense 7/13 - 1
12-103246680-C-G c.755G>C p.Arg252Pro Missense 7/13 - 2
12-103246680-C-T c.755G>A p.Arg252Gln Missense 7/13 - 18
12-103246679-C-A c.756G>T p.Arg252Arg Synonymous 7/13 - 1
12-103246679-C-G c.756G>C p.Arg252Arg Synonymous 7/13 - 1
12-103246681-G-A c.754C>T p.Arg252Trp Missense 7/13 - 35
12-103246681-G-C c.754C>G p.Arg252Gly Missense 7/13 - 7
12-103246681-G-T c.754C>A p.Arg252Arg Synonymous 7/13 - 2
12-103246682-GA-G c.753del p.Arg252Glyfs*89 Frameshift 7/13 - 1
12-103246684-GA-G c.751del p.Ser251Leufs*90 Frameshift 7/13 - 1
12-103246684-GAG-G c.753_754del p.Arg252Glyfs*30 Frameshift 7/13 - 1
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 - 11
12-103246692-A-C c.743T>G p.Leu248Arg Missense 7/13 - 2
12-103246692-A-G c.743T>C p.Leu248Pro Missense 7/13 - 2
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 - 15
12-103246695-C-T c.740G>A p.Gly247Asp Missense 7/13 - 3
12-103246696-CC-C c.740del p.Gly247Alafs*94 Frameshift 7/13 - 1
12-103246696-C-G c.739G>C p.Gly247Arg Missense 7/13 - 10
12-103246696-C-T c.739G>A p.Gly247Ser Missense 7/13 - 3
12-103246698-AG-A c.737del p.Ala246Valfs*95 Frameshift 7/13 - 2
12-103246698-G-A c.737C>T p.Ala246Val Missense 7/13 - 3
12-103246698-G-T c.737C>A p.Ala246Asp Missense 7/13 - 2
12-103246700-C-A c.735G>T p.Val245Val Synonymous 7/13 - 13
12-103246700-CAC-ATC c.734_735delinsAT p.Val245Asp Missense 7/13 - 2
12-103246700-C-G c.735G>C p.Val245Val Synonymous 7/13 - 21
12-103246700-C-T c.735G>A p.Val245Val Synonymous 7/13 - 24
12-103246701-A-G c.734T>C p.Val245Ala Missense 7/13 - 17
12-103246701-A-T c.734T>A p.Val245Glu Missense 7/13 - 5
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 - 2
12-103246704-G-A c.731C>T p.Pro244Leu Missense 7/13 - 4
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 - 5
12-103246707-C-T c.728G>A p.Arg243Gln Missense 7/13 - 49
12-103246708-CGG-C c.726_727del p.Arg243Thrfs*39 Frameshift 7/13 - 1
12-103246708-G-A c.727C>T p.Arg243* Nonsense 7/13 - 34
12-103246711-G-A c.724C>T p.Leu242Phe Missense 7/13 - 10
12-103246712-GCG-TGG c.722_723delinsCA p.Arg241Pro Missense 7/13 - 1
12-103246713-C-A c.722G>T p.Arg241Leu Missense 7/13 - 4
12-103246713-C-T c.722G>A p.Arg241His Missense 7/13 - 20
12-103246713-GC-G c.722del p.Arg241Profs*100 Frameshift 7/13 - 9
12-103246714-G-A c.721C>T p.Arg241Cys Missense 7/13 - 34
12-103246718-A-C c.717T>G p.Gly239Gly Synonymous 7/13 - 1
12-103246718-A-G c.717T>C p.Gly239Gly Synonymous 7/13 - 1
12-103246718-A-T c.717T>A p.Gly239Gly Synonymous 7/13 - 1
12-103246719-C-A c.716G>T p.Gly239Val Missense 7/13 - 4
12-103246719-C-G c.716G>C p.Gly239Ala Missense 7/13 - 5
12-103246719-C-T c.716G>A p.Gly239Asp Missense 7/13 - 6
12-103246723-T-C c.712A>G p.Thr238Ala Missense 7/13 - 3
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
12-103246728-G-T c.707C>A p.Thr236Asn Missense 7/13 - 1
12-103246729-C-T c.707-1G>A - IntronicSNV - 6/12 5
12-103246735-T-A c.707-7A>T - 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
12-103248272-A-C c.706+642T>G - IntronicSNV - 6/12 1
12-103248272-A-G c.706+642T>C - IntronicSNV - 6/12 1
12-103248272-A-T c.706+642T>A - IntronicSNV - 6/12 1
12-103248301-T-C c.706+613A>G - 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 - 3
12-103248921-G-T c.699C>A p.Phe233Leu Missense 6/13 - 3
12-103248924-C-G c.696G>C p.Gln232His Missense 6/13 - 7
12-103248924-C-T c.696G>A p.Gln232Gln Synonymous 6/13 - 17
12-103248926-G-A c.694C>T p.Gln232* Nonsense 6/13 - 10
12-103248926-G-C c.694C>G p.Gln232Glu Missense 6/13 - 1
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 - 7
12-103248931-A-C c.689T>G p.Val230Gly Missense 6/13 - 1
12-103248931-A-G c.689T>C p.Val230Ala Missense 6/13 - 1
12-103248932-C-T c.688G>A p.Val230Ile Missense 6/13 - 20
12-103248934-T-C c.686A>G p.Asp229Gly Missense 6/13 - 2
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-A c.682G>T p.Glu228* Nonsense 6/13 - 3
12-103248938-C-T c.682G>A p.Glu228Lys Missense 6/13 - 2
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 - 3
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-A c.676C>T p.Gln226* Nonsense 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 - 2
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 - 2
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 - 6
12-103248956-TCT-T c.664_665del p.Asp222* Frameshift 6/13 - 8
12-103248958-T-C c.662A>G p.Glu221Gly Missense 6/13 - 2
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 - 4
12-103248972-G-C c.648C>G p.Tyr216* Nonsense 6/13 - 3
12-103248979-T-C c.641A>G p.Glu214Gly Missense 6/13 - 1
12-103248982-A-G c.638T>C p.Leu213Pro Missense 6/13 - 7
12-103248982-AG-GC c.637_638delinsGC p.Leu213Ala Missense 6/13 - 1
12-103248983-G-A c.637C>T p.Leu213Phe Missense 6/13 - 2
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 - 3
12-103248989-GG-G c.632del p.Pro211Hisfs*130 Frameshift 6/13 - 5
12-103248989-G-T c.631C>A p.Pro211Thr Missense 6/13 - 10
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 - 4
12-103249002-G-T c.618C>A p.Tyr206* Nonsense 6/13 - 4
12-103249003-T-C c.617A>G p.Tyr206Cys Missense 6/13 - 4
12-103249005-C-G c.615G>C p.Glu205Asp Missense 6/13 - 1
12-103249006-CTCATAGCAAGCATGGGTTTTAT-C c.593_614del p.Tyr198Cysfs*136 Frameshift 6/13 - 3
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 - 3
12-103249008-A-G c.612T>C p.Tyr204Tyr Synonymous 6/13 - 1
12-103249009-ATAGCAAGCATGGGTTTTATACA-A c.592_613del p.Tyr198Serfs*136 Frameshift 6/13 - 4
12-103249009-ATAGCAAGCATGGGTTTTATACAA-A c.590_612del p.Leu197* Frameshift 6/13 - 1
12-103249009-T-C c.611A>G p.Tyr204Cys Missense 6/13 - 22
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 - 4
12-103249013-A-T c.607T>A p.Cys203Ser Missense 6/13 - 1
12-103249013-CAAGCATGGGTTTTATACAAGGAC-C c.586_608del p.Ser196Leufs*2 Frameshift 6/13 - 1
12-103249014-A-AA c.607dup p.Cys203Leufs*3 Frameshift 6/13 - 1
12-103249016-C-T c.604G>A p.Ala202Thr Missense 6/13 - 1
12-103249017-A-G c.603T>C p.His201His Synonymous 6/13 - 1
12-103249018-T-C c.602A>G p.His201Arg Missense 6/13 - 2
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 - 3
12-103249021-G-T c.599C>A p.Thr200Asn Missense 6/13 - 2
12-103249025-T-TT c.598dup p.Thr200Asnfs*6 Frameshift 6/13 - 3
12-103249026-A-C c.594T>G p.Tyr198* Nonsense 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
12-103249032-G-A c.588C>T p.Ser196Ser Synonymous 6/13 - 1
12-103249032-G-C c.588C>G p.Ser196Ser Synonymous 6/13 - 1
12-103249032-G-T c.588C>A p.Ser196Ser Synonymous 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 - 5
12-103249040-G-C c.580C>G p.Leu194Val Missense 6/13 - 1
12-103249041-GAG-G c.580_581del p.Leu194Glufs*5 Frameshift 6/13 - 4
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 - 8
12-103249056-G-A c.564C>T p.Gly188Gly Synonymous 6/13 - 1
12-103249056-G-T c.564C>A p.Gly188Gly Synonymous 6/13 - 1
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 - 3
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 - 9
12-103249060-CC-C c.563del p.Gly188Alafs*7 Frameshift 6/13 - 1
12-103249060-C-T c.560G>A p.Trp187* Nonsense 6/13 - 5
12-103249061-A-G c.559T>C p.Trp187Arg Missense 6/13 - 2
12-103249061-CAT-C c.558_559del p.Trp187Glyfs*12 Frameshift 6/13 - 1
12-103249062-AT-A c.558del p.Trp187Glyfs*8 Frameshift 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
12-103249067-TT-T c.556del p.Thr186Hisfs*9 Frameshift 6/13 - 1
12-103249072-T-C c.548A>G p.Glu183Gly Missense 6/13 - 2
12-103249072-TC-CT c.547_548delinsAG p.Glu183Arg Missense 6/13 - 1
12-103249072-TT-T c.551del p.Lys184Argfs*11 Frameshift 6/13 - 1
12-103249073-C-G c.547G>C p.Glu183Gln Missense 6/13 - 2
12-103249076-C-G c.544G>C p.Glu182Gln Missense 6/13 - 1
12-103249076-C-T c.544G>A p.Glu182Lys Missense 6/13 - 4
12-103249081-A-C c.539T>G p.Met180Arg Missense 6/13 - 1
12-103249081-AT-TA c.538_539delinsTA p.Met180* Nonsense 6/13 - 1
12-103249082-T-C c.538A>G p.Met180Val Missense 6/13 - 1
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 - 3
12-103249087-T-C c.533A>G p.Glu178Gly Missense 6/13 - 7
12-103249088-C-T c.532G>A p.Glu178Lys Missense 6/13 - 2
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 - 9
12-103249093-C-G c.527G>C p.Arg176Pro Missense 6/13 - 2
12-103249093-C-T c.527G>A p.Arg176Gln Missense 6/13 - 4
12-103249094-G-A c.526C>T p.Arg176* Nonsense 6/13 - 22
12-103249097-G-A c.523C>T p.Pro175Ser Missense 6/13 - 2
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 - 4
12-103249099-A-T c.521T>A p.Ile174Asn Missense 6/13 - 3
12-103249100-T-C c.520A>G p.Ile174Val Missense 6/13 - 4
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 - 3
12-103249106-G-A c.514C>T p.Gln172* Nonsense 6/13 - 2
12-103249107-C-A c.513G>T p.Gly171Gly Synonymous 6/13 - 1
12-103249107-C-G c.513G>C p.Gly171Gly Synonymous 6/13 - 1
12-103249107-C-T c.513G>A p.Gly171Gly Synonymous 6/13 - 1
12-103249108-C-G c.512G>C p.Gly171Ala Missense 6/13 - 2
12-103249109-C-T c.511G>A p.Gly171Arg Missense 6/13 - 3
12-103249110-A-T c.510T>A p.His170Gln Missense 6/13 - 4
12-103249110-CACTAGAATACAGGCACAAAATAGGTGTCTCAAGCAGGGCAGGGGCACAGCAGAACGCAG-C c.510-58_510del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/13 5/12 1
12-103249111-C-G c.510-1G>C - IntronicSNV - 5/12 1
12-103249111-C-T c.510-1G>A - IntronicSNV - 5/12 2
12-103249112-T-C c.510-2A>G - IntronicSNV - 5/12 2
12-103251675-C-T c.510-2565G>A - IntronicSNV - 5/12 1
12-103253157-G-A c.510-4047C>T - IntronicSNV - 5/12 1
12-103257308-T-C c.509+3066A>G - IntronicSNV - 5/12 2
12-103257876-A-G c.509+2498T>C - 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 2
12-103260369-C-T c.509+5G>A - IntronicSNV - 5/12 1
12-103260373-C-T c.509+1G>A - IntronicSNV - 5/12 2
12-103260374-CTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATC-C c.452_509+1del - Unclassified 5/13 - 1
12-103260374-T-C c.509A>G p.His170Arg Missense 5/13 - 4
12-103260374-T-G c.509A>C p.His170Pro Missense 5/13 - 2
12-103260375-G-C c.508C>G p.His170Asp Missense 5/13 - 4
12-103260376-GC-AA c.506_507delinsTT p.Arg169Leu Missense 5/13 - 1
12-103260377-C-T c.506G>A p.Arg169His Missense 5/13 - 9
12-103260378-G-A c.505C>T p.Arg169Cys Missense 5/13 - 4
12-103260378-G-C c.505C>G p.Arg169Gly Missense 5/13 - 2
12-103260378-G-T c.505C>A p.Arg169Ser Missense 5/13 - 5
12-103260379-G-T c.504C>A p.Tyr168* Nonsense 5/13 - 2
12-103260380-GT-G c.503del p.Tyr168Serfs*27 Frameshift 5/13 - 7
12-103260383-T-A c.500A>T p.Asn167Ile Missense 5/13 - 8
12-103260383-T-C c.500A>G p.Asn167Ser Missense 5/13 - 3
12-103260384-T-A c.499A>T p.Asn167Tyr Missense 5/13 - 1
12-103260385-G-C c.498C>G p.Tyr166* Nonsense 5/13 - 15
12-103260385-G-T c.498C>A p.Tyr166* Nonsense 5/13 - 8
12-103260386-T-C c.497A>G p.Tyr166Cys Missense 5/13 - 1
12-103260389-G-T c.494C>A p.Ala165Asp Missense 5/13 - 3
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 - 3
12-103260393-T-C c.490A>G p.Ile164Val Missense 5/13 - 4
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
12-103260398-G-A c.485C>T p.Ala162Val Missense 5/13 - 1
12-103260399-C-A c.484G>T p.Ala162Ser Missense 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 - 11
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 - 3
12-103260410-C-A c.473G>T p.Arg158Leu Missense 5/13 - 2
12-103260410-C-G c.473G>C p.Arg158Pro Missense 5/13 - 2
12-103260410-C-T c.473G>A p.Arg158Gln Missense 5/13 - 45
12-103260411-G-A c.472C>T p.Arg158Trp Missense 5/13 - 10
12-103260412-TC-AC c.471delinsT p.Arg157Ser Missense 5/13 - 5
12-103260413-C-A c.470G>T p.Arg157Ile Missense 5/13 - 1
12-103260413-C-T c.470G>A p.Arg157Lys Missense 5/13 - 4
12-103260417-C-G c.466G>C p.Ala156Pro Missense 5/13 - 5
12-103260419-C-G c.464G>C p.Arg155Pro Missense 5/13 - 3
12-103260419-C-T c.464G>A p.Arg155His Missense 5/13 - 8
12-103260420-G-A c.463C>T p.Arg155Cys Missense 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
12-103260422-T-C c.461A>G p.Tyr154Cys Missense 5/13 - 1
12-103260423-A-G c.460T>C p.Tyr154His Missense 5/13 - 4
12-103260423-A-T c.460T>A p.Tyr154Asn Missense 5/13 - 1
12-103260424-AC-A c.459del p.Tyr154Thrfs*41 Frameshift 5/13 - 1
12-103260425-A-G c.458T>C p.Val153Ala Missense 5/13 - 1
12-103260427-A-G c.456T>C p.Pro152Pro Synonymous 5/13 - 1
12-103260427-A-T c.456T>A p.Pro152Pro Synonymous 5/13 - 1
12-103260428-G-A c.455C>T p.Pro152Leu Missense 5/13 - 1
12-103260430-A-T c.453T>A p.Asp151Glu Missense 5/13 - 2
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
12-103260436-A-G c.447T>C p.Phe149Phe Synonymous 5/13 - 1
12-103260440-C-A c.443G>T p.Gly148Val Missense 5/13 - 2
12-103260441-C-G c.442G>C p.Gly148Arg Missense 5/13 - 2
12-103260441-C-T c.442G>A p.Gly148Ser Missense 5/13 - 2
12-103260442-C-G c.442-1G>C - IntronicSNV - 4/12 1
12-103260442-C-T c.442-1G>A - IntronicSNV - 4/12 16
12-103260446-G-C c.442-5C>G - IntronicSNV - 4/12 3
12-103260455-G-A c.442-14C>T - IntronicSNV - 4/12 1
12-103260608-T-C c.442-167A>G - IntronicSNV - 4/12 1
12-103260608-T-G c.442-167A>C - IntronicSNV - 4/12 1
12-103260634-T-C c.442-193A>G - IntronicSNV - 4/12 2
12-103260819-T-C c.442-378A>G - IntronicSNV - 4/12 2
12-103271193-G-A c.441+47C>T - IntronicSNV - 4/12 3
12-103271235-C-A c.441+5G>T - IntronicSNV - 4/12 15
12-103271235-C-T c.441+5G>A - IntronicSNV - 4/12 1
12-103271237-C-G c.441+3G>C - IntronicSNV - 4/12 2
12-103271238-A-C c.441+2T>G - IntronicSNV - 4/12 1
12-103271238-A-G c.441+2T>C - IntronicSNV - 4/12 1
12-103271238-A-T c.441+2T>A - 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 2
12-103271239-C-T c.441+1G>A - IntronicSNV - 4/12 4
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 - 5
12-103271241-G-T c.440C>A p.Pro147His Missense 4/13 - 1
12-103271242-G-A c.439C>T p.Pro147Ser Missense 4/13 - 3
12-103271243-G-A c.438C>T p.His146His Synonymous 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 - 6
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
12-103271254-C-T c.427G>A p.Asp143Asn Missense 4/13 - 1
12-103271256-AG-GC c.424_425delinsGC p.Leu142Ala Missense 4/13 - 1
12-103271262-G-A c.419C>T p.Ala140Val Missense 4/13 - 1
12-103271262-G-T c.419C>A p.Ala140Glu Missense 4/13 - 1
12-103271265-C-T c.416G>A p.Gly139Glu 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
12-103271274-A-G c.407T>C p.Leu136Pro Missense 4/13 - 1
12-103271281-G-A c.400C>T p.Gln134* Nonsense 4/13 - 1
12-103271282-A-G c.399T>C p.Asn133Asn Synonymous 4/13 - 1
12-103271282-GA-G c.399del p.Gln134Argfs*61 Frameshift 4/13 - 1
12-103271282-GATTG-G c.398_401del p.Asn133Argfs*61 Frameshift 4/13 - 2
12-103271288-A-C c.393T>G p.Phe131Leu Missense 4/13 - 1
12-103271288-A-T c.393T>A p.Phe131Leu Missense 4/13 - 1
12-103271290-A-G c.391T>C p.Phe131Leu Missense 4/13 - 1
12-103271295-T-C c.386A>G p.Asp129Gly Missense 4/13 - 5
12-103271300-C-A c.381G>T p.Glu127Asp Missense 4/13 - 1
12-103271300-C-G c.381G>C p.Glu127Asp Missense 4/13 - 1
12-103271300-GC-G c.381del p.Glu127Aspfs*68 Frameshift 4/13 - 1
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 - 2
12-103271305-G-A c.376C>T p.Gln126* Nonsense 4/13 - 1
12-103271307-A-G c.374T>C p.Ile125Thr 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 - 2
12-103271320-A-G c.361T>C p.Phe121Leu Missense 4/13 - 2
12-103271322-C-T c.359G>A p.Trp120* Nonsense 4/13 - 1
12-103271323-CA-C c.358del p.Trp120Glyfs*75 Frameshift 4/13 - 1
12-103271325-G-A c.356C>T p.Pro119Leu Missense 4/13 - 1
12-103271325-G-C c.356C>G p.Pro119Arg Missense 4/13 - 1
12-103271326-G-A c.355C>T p.Pro119Ser Missense 4/13 - 5
12-103271330-T-A c.353-2A>T - IntronicSNV - 3/12 2
12-103271330-T-C c.353-2A>G - IntronicSNV - 3/12 3
12-103271350-G-A c.353-22C>T - IntronicSNV - 3/12 5
12-103271350-G-T c.353-22C>A - IntronicSNV - 3/12 2
12-103272322-C-G c.353-994G>C - IntronicSNV - 3/12 1
12-103275901-C-T c.353-4573G>A - IntronicSNV - 3/12 1
12-103276553-T-A c.353-5225A>T - IntronicSNV - 3/12 1
12-103278745-C-T c.353-7417G>A - IntronicSNV - 3/12 1
12-103279257-G-A c.353-7929C>T - 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
12-103287067-A-G c.352+1446T>C - IntronicSNV - 3/12 1
12-103288515-G-A c.350C>T p.Thr117Ile Missense 3/13 - 3
12-103288515-TG-T c.350del p.Thr117Lysfs*78 Frameshift 3/13 - 1
12-103288518-T-A c.347A>T p.Asp116Val Missense 3/13 - 2
12-103288521-T-C c.344A>G p.Lys115Arg Missense 3/13 - 1
12-103288522-TTCTT-T c.344_347del p.Lys115Thrfs*79 Frameshift 3/13 - 1
12-103288525-TTCTT-T c.338_341del p.Lys113Argfs*81 Frameshift 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 - 32
12-103288535-T-A c.330A>T p.Ser110Ser Synonymous 3/13 - 1
12-103288536-G-A c.329C>T p.Ser110Leu Missense 3/13 - 1
12-103288537-GAAAGC-G c.324_328del p.Glu108Aspfs*4 Frameshift 3/13 - 1
12-103288543-C-T c.322G>A p.Glu108Lys Missense 3/13 - 1
12-103288545-T-C c.320A>G p.His107Arg Missense 3/13 - 6
12-103288547-GGACAGTGGC-G c.310_318del p.Ala104_Val106del InFrameDeletion 3/13 - 2
12-103288547-GGAC-G c.316_318del p.Val106del InFrameDeletion 3/13 - 1
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
12-103288551-AG-A c.314del p.Thr105Metfs*90 Frameshift 3/13 - 1
12-103288554-G-A c.311C>T p.Ala104Val Missense 3/13 - 1
12-103288554-G-T c.311C>A p.Ala104Asp Missense 3/13 - 18
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 - 3
12-103288558-C-A c.307G>T p.Gly103Cys Missense 3/13 - 2
12-103288558-C-T c.307G>A p.Gly103Ser Missense 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 - 3
12-103288566-T-C c.299A>G p.His100Arg Missense 3/13 - 5
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 - 2
12-103288573-A-C c.292T>G p.Leu98Val Missense 3/13 - 3
12-103288576-T-C c.289A>G p.Ile97Val Missense 3/13 - 1
12-103288576-T-G c.289A>C p.Ile97Leu Missense 3/13 - 4
12-103288580-G-A c.285C>T p.Ile95Ile Synonymous 3/13 - 1
12-103288584-A-C c.281T>G p.Ile94Ser Missense 3/13 - 2
12-103288584-GATG-G c.284_286del p.Ile95del InFrameDeletion 3/13 - 10
12-103288585-T-C c.280A>G p.Ile94Val Missense 3/13 - 4
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 - 3
12-103288591-GT-G c.274del p.Thr92Glnfs*7 Frameshift 3/13 - 1
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 - 2
12-103288600-G-GG c.266dup p.Ala90Cysfs*12 Frameshift 3/13 - 3
12-103288600-G-T c.265C>A p.Pro89Thr Missense 3/13 - 1
12-103288601-CAG-TTT c.262_264delinsAAA p.Leu88Lys Missense 3/13 - 1
12-103288604-G-T c.261C>A p.Ser87Arg Missense 3/13 - 4
12-103288608-C-T c.257G>A p.Arg86His Missense 3/13 - 1
12-103288609-G-A c.256C>T p.Arg86Cys Missense 3/13 - 2
12-103288610-GTTTATCCAAATGGGTG-G c.241_256del p.Thr81Valfs*6 Frameshift 3/13 - 1
12-103288612-T-A c.253A>T p.Lys85* Nonsense 3/13 - 1
12-103288613-ATC-TGG c.250_252delinsCCA p.Asp84Pro Missense 3/13 - 1
12-103288615-C-A c.250G>T p.Asp84Tyr Missense 3/13 - 5
12-103288621-G-A c.244C>T p.His82Tyr Missense 3/13 - 1
12-103288623-G-T c.242C>A p.Thr81Asn Missense 3/13 - 1
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
12-103288632-TTCAT-T c.232_235del p.Glu78Phefs*13 Frameshift 3/13 - 2
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 - 3
12-103288634-A-C c.231T>G p.Tyr77* Nonsense 3/13 - 2
12-103288636-A-G c.229T>C p.Tyr77His Missense 3/13 - 2
12-103288637-C-A c.228G>T p.Glu76Asp Missense 3/13 - 1
12-103288637-C-G c.228G>C p.Glu76Asp Missense 3/13 - 1
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-A c.226G>T p.Glu76* Nonsense 3/13 - 1
12-103288639-C-G c.226G>C p.Glu76Gln Missense 3/13 - 1
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 - 2
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
12-103288642-C-T c.223G>A p.Asp75Asn 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 - 3
12-103288656-G-A c.209C>T p.Ser70Phe Missense 3/13 - 1
12-103288656-GA-CT c.208_209delinsAG p.Ser70Ser Missense 3/13 - 1
12-103288657-A-G c.208T>C p.Ser70Pro Missense 3/13 - 1
12-103288657-GAAG-G c.208_210del p.Ser70del InFrameDeletion 3/13 - 13
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 - 2
12-103288661-T-A c.204A>T p.Arg68Ser Missense 3/13 - 20
12-103288662-C-T c.203G>A p.Arg68Lys Missense 3/13 - 1
12-103288663-CTA-C c.201_202del p.Arg68Thrfs*8 Frameshift 3/13 - 1
12-103288664-A-C c.201T>G p.Ser67Ser Synonymous 3/13 - 1
12-103288664-TAGATTCAA-T c.194_201del p.Ile65Lysfs*9 Frameshift 3/13 - 1
12-103288665-G-A c.200C>T p.Ser67Phe Missense 3/13 - 1
12-103288666-A-G c.199T>C p.Ser67Pro Missense 3/13 - 5
12-103288669-C-A c.196G>T p.Glu66* Nonsense 3/13 - 2
12-103288671-A-C c.194T>G p.Ile65Ser Missense 3/13 - 7
12-103288671-A-G c.194T>C p.Ile65Thr Missense 3/13 - 43
12-103288671-A-T c.194T>A p.Ile65Asn Missense 3/13 - 3
12-103288672-T-C c.193A>G p.Ile65Val Missense 3/13 - 3
12-103288673-G-A c.192C>T p.His64His Synonymous 3/13 - 1
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
12-103288677-GG-G c.190del p.His64Thrfs*9 Frameshift 3/13 - 1
12-103288678-T-C c.187A>G p.Thr63Ala Missense 3/13 - 1
12-103288678-T-G c.187A>C p.Thr63Pro Missense 3/13 - 6
12-103288679-C-A c.186G>T p.Leu62Leu Synonymous 3/13 - 1
12-103288679-TCAGGT-T c.185_189del p.Leu62Profs*3 Frameshift 3/13 - 1
12-103288681-G-C c.184C>G p.Leu62Val Missense 3/13 - 1
12-103288682-G-C c.183C>G p.Asn61Lys Missense 3/13 - 2
12-103288682-GG-G c.184del p.Leu62* Frameshift 3/13 - 1
12-103288682-G-T c.183C>A p.Asn61Lys Missense 3/13 - 2
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
12-103288689-TC-TT c.175delinsA p.Asp59Asn Missense 3/13 - 1
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 - 2
12-103288696-C-T c.169G>A p.Glu57Lys Missense 3/13 - 2
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 3
12-103298517-A-G c.168+8052T>C - IntronicSNV - 2/12 3
12-103298517-A-T c.168+8052T>A - IntronicSNV - 2/12 3
12-103305409-G-A c.168+1160C>T - IntronicSNV - 2/12 1
12-103306550-A-G c.168+19T>C - IntronicSNV - 2/12 4
12-103306564-C-G c.168+5G>C - IntronicSNV - 2/12 15
12-103306564-C-T c.168+5G>A - IntronicSNV - 2/12 4
12-103306567-A-G c.168+2T>C - IntronicSNV - 2/12 1
12-103306568-C-A c.168+1G>T - IntronicSNV - 2/12 1
12-103306568-C-T c.168+1G>A - IntronicSNV - 2/12 3
12-103306569-C-A c.168G>T p.Glu56Asp Missense 2/13 - 7
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 - 2
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 - 8
12-103306574-AA-A c.165del p.Phe55Leufs*6 Frameshift 2/13 - 11
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
12-103306577-A-G c.160T>C p.Leu54Leu Synonymous 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-G c.158G>C p.Arg53Pro Missense 2/13 - 1
12-103306579-C-T c.158G>A p.Arg53His Missense 2/13 - 19
12-103306580-CGC-C c.158_159del p.Arg53Leufs*3 Frameshift 2/13 - 1
12-103306580-G-A c.157C>T p.Arg53Cys Missense 2/13 - 1
12-103306582-A-G c.155T>C p.Leu52Ser Missense 2/13 - 3
12-103306583-AA-A c.155del p.Leu52Cysfs*9 Frameshift 2/13 - 2
12-103306589-T-C c.148A>G p.Lys50Glu Missense 2/13 - 1
12-103306594-A-G c.143T>C p.Leu48Ser Missense 2/13 - 48
12-103306595-A-AA c.143dup p.Leu48Phefs*9 Frameshift 2/13 - 1
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-CC-C c.137del p.Gly46Valfs*15 Frameshift 2/13 - 1
12-103306601-C-T c.136G>A p.Gly46Ser Missense 2/13 - 15
12-103306602-A-C c.135T>G p.Val45Val Synonymous 2/13 - 1
12-103306602-A-G c.135T>C p.Val45Val Synonymous 2/13 - 1
12-103306602-A-T c.135T>A p.Val45Val Synonymous 2/13 - 1
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 - 2
12-103306610-TCTT-T c.131_133del p.Glu44del InFrameDeletion 2/13 - 1
12-103306611-CTTT-C c.124_126del p.Lys42del InFrameDeletion 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-GTGA-G c.118_120del p.Ser40del InFrameDeletion 2/13 - 1
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
12-103306620-G-C c.117C>G p.Phe39Leu Missense 2/13 - 17
12-103306621-A-C c.116T>G p.Phe39Cys Missense 2/13 - 1
12-103306622-AAGA-A c.116_118del p.Phe39del InFrameDeletion 2/13 - 16
12-103306624-AT-CC c.112_113delinsGG p.Ile38Gly Missense 2/13 - 1
12-103306626-C-CC c.111dup p.Ile38Aspfs*19 Frameshift 2/13 - 1
12-103306630-G-T c.107C>A p.Ser36* Nonsense 2/13 - 1
12-103306631-A-ACG c.105_106insCG p.Ser36Argfs*3 Frameshift 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
12-103306643-T-TA c.93_94insT p.Asn32* Nonsense 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
12-103306663-A-G c.74T>C p.Ile25Thr Missense 2/13 - 1
12-103306666-T-A c.71A>T p.Tyr24Phe Missense 2/13 - 1
12-103306666-T-C c.71A>G p.Tyr24Cys Missense 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 - 2
12-103306672-GT-GG c.64delinsC p.Thr22Pro Missense 2/13 - 2
12-103306674-T-G c.63A>C p.Glu21Asp Missense 2/13 - 1
12-103306679-A-G c.61-3T>C - IntronicSNV - 1/12 2
12-103310715-T-C c.60+134A>G - IntronicSNV - 1/12 1
12-103310787-G-A c.60+62C>T - IntronicSNV - 1/12 4
12-103310787-G-C c.60+62C>G - IntronicSNV - 1/12 3
12-103310844-C-A c.60+5G>T - IntronicSNV - 1/12 7
12-103310844-C-T c.60+5G>A - IntronicSNV - 1/12 1
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 - 3
12-103310856-AA-GC c.52_53delinsGC p.Phe18Ala Missense 1/13 - 3
12-103310858-G-C c.51C>G p.Asp17Glu Missense 1/13 - 1
12-103310859-TC-AG c.49_50delinsCT p.Asp17Leu Missense 1/13 - 1
12-103310861-A-AA c.48dup p.Asp17* Nonsense 1/13 - 1
12-103310861-AG-AA c.47delinsT p.Ser16Phe Nonsense 1/13 - 3
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 - 4
12-103310865-A-ACT c.43_44insAG p.Leu15Glnfs*24 Frameshift 1/13 - 1
12-103310865-GAG-G c.47_48del p.Ser16* Frameshift 1/13 - 12
12-103310867-T-C c.42A>G p.Lys14Lys Synonymous 1/13 - 1
12-103310873-G-A c.36C>T p.Gly12Gly Synonymous 1/13 - 1
12-103310873-GC-AG c.35_36delinsCT p.Gly12Ala Missense 1/13 - 1
12-103310873-G-T c.36C>A p.Gly12Gly Synonymous 1/13 - 1
12-103310874-C-T c.35G>A p.Gly12Asp Missense 1/13 - 4
12-103310875-C-A c.34G>T p.Gly12Cys Missense 1/13 - 1
12-103310876-CC-C c.35del p.Gly12Alafs*26 Frameshift 1/13 - 1
12-103310877-A-T c.32T>A p.Leu11* Nonsense 1/13 - 1
12-103310876-C-T c.33G>A p.Leu11Leu Synonymous 1/13 - 1
12-103310878-A-G c.31T>C p.Leu11Leu Synonymous 1/13 - 1
12-103310879-G-A c.30C>T p.Gly10Gly Synonymous 1/13 - 1
12-103310879-G-C c.30C>G p.Gly10Gly Synonymous 1/13 - 3
12-103310879-G-GG c.30dup p.Arg13Glnfs*5 Frameshift 1/13 - 2
12-103310879-G-T c.30C>A p.Gly10Gly Synonymous 1/13 - 1
12-103310889-T-A c.20A>T p.Glu7Val Missense 1/13 - 1
12-103310891-C-A c.18G>T p.Leu6Leu Synonymous 1/13 - 1
12-103310891-C-G c.18G>C p.Leu6Leu Synonymous 1/13 - 1
12-103310891-C-T c.18G>A p.Leu6Leu Synonymous 1/13 - 1
12-103310893-G-A c.16C>T p.Leu6Leu Synonymous 1/13 - 1
12-103310897-C-A c.12G>T p.Ala4Ala Synonymous 1/13 - 1
12-103310897-CC-C c.13del p.Val5Serfs*33 Frameshift 1/13 - 2
12-103310897-C-G c.12G>C p.Ala4Ala Synonymous 1/13 - 1
12-103310897-C-T c.12G>A p.Ala4Ala Synonymous 1/13 - 1
12-103310900-A-C c.9T>G p.Thr3Thr Synonymous 1/13 - 1
12-103310900-A-G c.9T>C p.Thr3Thr Synonymous 1/13 - 1
12-103310900-A-T c.9T>A p.Thr3Thr Synonymous 1/13 - 1
12-103310906-C-T c.3G>A p.Met1? Missense 1/13 - 1
12-103310908-T-C c.1A>G p.Met1? Missense 1/13 - 3
12-103310912-G-A c.-4C>T - 5-UTRSNV 1/13 - 1
12-103310914-C-T c.-6G>A - 5-UTRSNV 1/13 - 1
12-103310916-C-G c.-8G>C - 5-UTRSNV 1/13 - 1
12-103310977-C-T c.-69G>A - 5-UTRSNV 1/13 - 1
12-103310979-T-G c.-71A>C - 5-UTRSNV 1/13 - 1
12-103310989-G-A c.-81C>T - 5-UTRSNV 1/13 - 1