SIL1

SIL1 SIL1 nucleotide exchange factor

Annotation transcript: NM_022464.5

1697 unique variant annotations were identified in 650 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
5-138282776-G-A c.*30C>T - 3-UTRSNV 10/10 - 1
5-138282810-C-A c.1382G>T p.R461I Missense 10/10 - 1
5-138282810-C-CG c.1381_1382insC p.R461Tfs*14 Frameshift 10/10 - 1
5-138282811-T-C c.1381A>G p.R461G Missense 10/10 - 1
5-138282811-T-G c.1381A>C p.R461= Synonymous 10/10 - 1
5-138282812-C-A c.1380G>T p.L460= Synonymous 10/10 - 1
5-138282814-G-A c.1378C>T p.L460= Synonymous 10/10 - 1
5-138282817-C-T c.1375G>A p.E459K Missense 10/10 - 4
5-138282820-T-C c.1372A>G p.K458E Missense 10/10 - 1
5-138282822-A-G c.1370T>C p.L457P Missense 10/10 - 3
5-138282823-G-A c.1369C>T p.L457= Synonymous 10/10 - 1
5-138282824-C-T c.1368G>A p.L456= Synonymous 10/10 - 1
5-138282825-AA-CT c.1366_1367delinsAG p.L456R Missense 10/10 - 1
5-138282828-C-T c.1364G>A p.S455N Missense 10/10 - 2
5-138282828-CTGT-C c.1361_1363del p.N454del InFrameDeletion 10/10 - 1
5-138282831-T-C c.1361A>G p.N454S Missense 10/10 - 1
5-138282830-GT-G c.1361del p.N454Tfs*4 Frameshift 10/10 - 1
5-138282833-GAC-CAT c.1357_1359delinsATG p.V453M Missense 10/10 - 1
5-138282837-G-A c.1355C>T p.S452F Missense 10/10 - 1
5-138282837-GA-AG c.1354_1355delinsCT p.S452L Missense 10/10 - 1
5-138282837-G-C c.1355C>G p.S452C Missense 10/10 - 1
5-138282838-A-G c.1354T>C p.S452P Missense 10/10 - 2
5-138282840-C-T c.1352G>A p.G451D Missense 10/10 - 1
5-138282841-C-T c.1351G>A p.G451S Missense 10/10 - 2
5-138282843-CA-C c.1349del p.L450Rfs*8 Frameshift 10/10 - 1
5-138282844-G-A c.1348C>T p.L450= Synonymous 10/10 - 1
5-138282845-C-A c.1347G>T p.L449= Synonymous 10/10 - 2
5-138282845-C-G c.1347G>C p.L449= Synonymous 10/10 - 3
5-138282845-C-T c.1347G>A p.L449= Synonymous 10/10 - 2
5-138282847-G-A c.1345C>T p.L449= Synonymous 10/10 - 2
5-138282847-G-T c.1345C>A p.L449M Missense 10/10 - 1
5-138282849-T-C c.1343A>G p.E448G Missense 10/10 - 1
5-138282850-C-G c.1342G>C p.E448Q Missense 10/10 - 1
5-138282850-C-T c.1342G>A p.E448K Missense 10/10 - 2
5-138282849-T-TC c.1342dup p.E448Gfs*27 Frameshift 10/10 - 1
5-138282851-C-A c.1341G>T p.Q447H Missense 10/10 - 1
5-138282853-G-C c.1339C>G p.Q447E Missense 10/10 - 1
5-138282853-TGG-T c.1338_1339del p.F446Lfs*28 Frameshift 10/10 - 1
5-138282854-G-C c.1338C>G p.F446L Missense 10/10 - 1
5-138282856-A-AG c.1335dup p.F446Lfs*29 Frameshift 10/10 - 1
5-138282857-G-GT c.1334dup p.Y445* Nonsense 10/10 - 1
5-138282858-T-A c.1334A>T p.Y445F Missense 10/10 - 1
5-138282858-T-C c.1334A>G p.Y445C Missense 10/10 - 1
5-138282859-A-AG c.1332dup p.Y445Lfs*30 Frameshift 10/10 - 1
5-138282861-C-T c.1331G>A p.G444D Missense 10/10 - 1
5-138282862-C-T c.1330G>A p.G444S Missense 10/10 - 2
5-138282865-C-CA c.1326_1327insT p.E443* Nonsense 10/10 - 1
5-138282865-C-T c.1327G>A p.E443K Missense 10/10 - 1
5-138282866-G-A c.1326C>T p.D442= Synonymous 10/10 - 1
5-138282868-C-CA c.1323_1324insT p.D442* Nonsense 10/10 - 1
5-138282868-C-T c.1324G>A p.D442N Missense 10/10 - 1
5-138282869-C-A c.1323G>T p.E441D Missense 10/10 - 1
5-138282869-C-G c.1323G>C p.E441D Missense 10/10 - 1
5-138282871-C-T c.1321G>A p.E441K Missense 10/10 - 2
5-138282877-C-A c.1315G>T p.D439Y Missense 10/10 - 1
5-138282878-C-A c.1314G>T p.Q438H Missense 10/10 - 1
5-138282879-T-A c.1313A>T p.Q438L Missense 10/10 - 1
5-138282880-G-A c.1312C>T p.Q438* Nonsense 10/10 - 2
5-138282888-A-C c.1304T>G p.L435R Missense 10/10 - 2
5-138282888-A-G c.1304T>C p.L435P Missense 10/10 - 1
5-138282888-AG-GA c.1303_1304delinsTC p.L435S Missense 10/10 - 1
5-138282890-G-A c.1302C>T p.S434= Synonymous 10/10 - 1
5-138282891-C-T c.1301G>A p.S434N Missense 10/10 - 1
5-138282891-CT-TA c.1300_1301delinsTA p.S434Y Missense 10/10 - 1
5-138282892-T-C c.1300A>G p.S434G Missense 10/10 - 1
5-138282894-G-A c.1298C>T p.A433V Missense 10/10 - 1
5-138282897-A-C c.1295T>G p.L432R Missense 10/10 - 1
5-138282897-A-G c.1295T>C p.L432P Missense 10/10 - 1
5-138282901-C-T c.1291G>A p.V431M Missense 10/10 - 3
5-138282903-T-A c.1289A>T p.Q430L Missense 10/10 - 1
5-138282904-G-A c.1288C>T p.Q430* Nonsense 10/10 - 1
5-138282904-G-T c.1288C>A p.Q430K Missense 10/10 - 1
5-138282906-T-A c.1286A>T p.Y429F Missense 10/10 - 1
5-138282906-T-C c.1286A>G p.Y429C Missense 10/10 - 2
5-138282907-A-C c.1285T>G p.Y429D Missense 10/10 - 2
5-138282907-A-T c.1285T>A p.Y429N Missense 10/10 - 1
5-138282909-T-C c.1283A>G p.E428G Missense 10/10 - 1
5-138282910-C-G c.1282G>C p.E428Q Missense 10/10 - 1
5-138282910-C-T c.1282G>A p.E428K Missense 10/10 - 1
5-138282911-A-C c.1281T>G p.A427= Synonymous 10/10 - 1
5-138282912-G-A c.1280C>T p.A427V Missense 10/10 - 1
5-138282913-C-A c.1279G>T p.A427S Missense 10/10 - 1
5-138282913-C-G c.1279G>C p.A427P Missense 10/10 - 1
5-138282913-C-T c.1279G>A p.A427T Missense 10/10 - 1
5-138282915-CTG-C c.1276_1277del p.Q426Gfs*2 Frameshift 10/10 - 1
5-138282915-T-A c.1277A>T p.Q426L Missense 10/10 - 1
5-138282916-G-T c.1276C>A p.Q426K Missense 10/10 - 1
5-138282917-C-A c.1275G>T p.L425= Synonymous 10/10 - 1
5-138282917-C-CGA c.1274_1275insTC p.Q426Rfs*33 Frameshift 10/10 - 1
5-138282918-A-C c.1274T>G p.L425R Missense 10/10 - 1
5-138282919-G-C c.1273C>G p.L425V Missense 10/10 - 1
5-138282920-G-A c.1272C>T p.S424= Synonymous 10/10 - 1
5-138282924-G-A c.1268C>T p.A423V Missense 10/10 - 1
5-138282924-G-T c.1268C>A p.A423D Missense 10/10 - 1
5-138282925-C-T c.1267G>A p.A423T Missense 10/10 - 2
5-138282926-C-A c.1266G>T p.L422= Synonymous 10/10 - 1
5-138282926-CAG-AAA c.1264_1266delinsTTT p.L422F Missense 10/10 - 1
5-138282926-C-G c.1266G>C p.L422= Synonymous 10/10 - 1
5-138282926-C-T c.1266G>A p.L422= Synonymous 10/10 - 1
5-138282928-G-A c.1264C>T p.L422= Synonymous 10/10 - 2
5-138282927-A-T c.1265T>A p.L422Q Missense 10/10 - 1
5-138282930-G-GGGGCT c.1261_1262insAGCCC p.T421Kfs*39 Frameshift 10/10 - 1
5-138282930-G-T c.1262C>A p.T421K Missense 10/10 - 1
5-138282930-G-GT c.1261dup p.T421Nfs*8 Frameshift 10/10 - 1
5-138282931-T-C c.1261A>G p.T421A Missense 10/10 - 1
5-138282932-CCT-ACA c.1258_1260delinsTGT p.R420C Missense 10/10 - 2
5-138282932-CCT-ATG c.1258_1260delinsCAT p.R420H Missense 10/10 - 1
5-138282933-C-A c.1259G>T p.R420M Missense 10/10 - 1
5-138282933-CT-GC c.1258_1259delinsGC p.R420A Missense 10/10 - 2
5-138282933-CT-TA c.1258_1259delinsTA p.R420* Nonsense 10/10 - 1
5-138282934-T-A c.1258A>T p.R420W Missense 10/10 - 2
5-138282936-C-T c.1256G>A p.G419D Missense 10/10 - 1
5-138282937-C-T c.1255G>A p.G419S Missense 10/10 - 3
5-138282938-GAG-CAT c.1252_1254delinsATG p.L418M Missense 10/10 - 1
5-138282939-AG-GC c.1252_1253delinsGC p.L418A Missense 10/10 - 1
5-138282940-G-A c.1252C>T p.L418F Missense 10/10 - 1
5-138282940-G-T c.1252C>A p.L418I Missense 10/10 - 1
5-138282942-T-G c.1250A>C p.Q417P Missense 10/10 - 1
5-138282943-G-A c.1249C>T p.Q417* Nonsense 10/10 - 2
5-138282943-G-C c.1249C>G p.Q417E Missense 10/10 - 1
5-138282944-G-T c.1248C>A p.P416= Synonymous 10/10 - 1
5-138282945-G-T c.1247C>A p.P416H Missense 10/10 - 1
5-138282947-G-C c.1245C>G p.D415E Missense 10/10 - 1
5-138282947-G-T c.1245C>A p.D415E Missense 10/10 - 1
5-138282949-C-T c.1243G>A p.D415N Missense 10/10 - 1
5-138282951-T-C c.1241A>G p.Q414R Missense 10/10 - 1
5-138282952-G-A c.1240C>T p.Q414* Nonsense 10/10 - 3
5-138282952-G-C c.1240C>G p.Q414E Missense 10/10 - 1
5-138282952-G-GT c.1239_1240insA p.Q414Tfs*15 Frameshift 10/10 - 1
5-138282952-G-T c.1240C>A p.Q414K Missense 10/10 - 1
5-138282953-ACG-TCA c.1237_1239delinsTGA p.R413* Nonsense 10/10 - 1
5-138282954-C-T c.1238G>A p.R413H Missense 10/10 - 4
5-138282955-G-A c.1237C>T p.R413C Missense 10/10 - 2
5-138282956-G-A c.1236C>T p.Y412= Synonymous 10/10 - 1
5-138282959-GCG-TCA c.1231_1233delinsTGA p.R411* Nonsense 10/10 - 2
5-138282961-G-A c.1231C>T p.R411C Missense 10/10 - 1
5-138282961-G-C c.1231C>G p.R411G Missense 10/10 - 2
5-138282962-G-A c.1230C>T p.D410= Synonymous 10/10 - 2
5-138282962-G-C c.1230C>G p.D410E Missense 10/10 - 1
5-138282962-G-T c.1230C>A p.D410E Missense 10/10 - 1
5-138282964-C-T c.1228G>A p.D410N Missense 10/10 - 1
5-138282965-CC-AT c.1226_1227delinsAT p.R409H Missense 10/10 - 1
5-138282966-CG-TA c.1225_1226delinsTA p.R409* Nonsense 10/10 - 1
5-138282966-C-T c.1226G>A p.R409Q Missense 10/10 - 5
5-138282965-C-A c.1227G>T p.R409= Synonymous 10/10 - 1
5-138282965-C-G c.1227G>C p.R409= Synonymous 10/10 - 1
5-138282965-C-T c.1227G>A p.R409= Synonymous 10/10 - 1
5-138282967-G-A c.1225C>T p.R409W Missense 10/10 - 5
5-138282967-G-C c.1225C>G p.R409G Missense 10/10 - 1
5-138282967-G-T c.1225C>A p.R409= Synonymous 10/10 - 1
5-138282969-C-T c.1223G>A p.C408Y Missense 10/10 - 3
5-138282971-GG-CA c.1220_1221delinsTG p.T407M Missense 10/10 - 1
5-138282972-G-A c.1220C>T p.T407I Missense 10/10 - 1
5-138282975-G-C c.1217C>G p.T406S Missense 10/10 - 1
5-138282976-T-A c.1216A>T p.T406S Missense 10/10 - 1
5-138282978-AG-GA c.1213_1214delinsTC p.L405S Missense 10/10 - 2
5-138282979-G-A c.1213C>T p.L405= Synonymous 10/10 - 1
5-138282981-A-G c.1211T>C p.L404P Missense 10/10 - 3
5-138282982-G-T c.1210C>A p.L404I Missense 10/10 - 1
5-138282985-C-T c.1207G>A p.V403I Missense 10/10 - 4
5-138282988-C-A c.1204G>T p.G402C Missense 10/10 - 1
5-138282988-C-G c.1204G>C p.G402R Missense 10/10 - 1
5-138282988-C-T c.1204G>A p.G402S Missense 10/10 - 1
5-138282990-A-G c.1202T>C p.L401P Missense 10/10 - 2
5-138282991-G-A c.1201C>T p.L401= Synonymous 10/10 - 1
5-138282992-T-C c.1200A>G p.T400= Synonymous 10/10 - 1
5-138282992-TG-CA c.1199_1200inv p.T400M Missense 10/10 - 1
5-138282993-G-A c.1199C>T p.T400I Missense 10/10 - 1
5-138282994-GT-G c.1198del p.T400Hfs*6 Frameshift 10/10 - 1
5-138282998-CAG-AAA c.1192_1194delinsTTT p.L398F Missense 10/10 - 1
5-138282999-A-C c.1193T>G p.L398R Missense 10/10 - 1
5-138283000-AGCAC-A c.1189_1192del p.V397Cfs*8 Frameshift 10/10 - 1
5-138283001-CAC-AAA c.1189_1191delinsTTT p.V397F Missense 10/10 - 1
5-138283002-A-G c.1190T>C p.V397A Missense 10/10 - 1
5-138283003-C-T c.1189G>A p.V397M Missense 10/10 - 2
5-138283004-C-A c.1188G>T p.K396N Missense 10/10 - 1
5-138283005-T-TA c.1186_1187insT p.K396Ifs*33 Frameshift 10/10 - 1
5-138283006-T-TA c.1185_1186insT p.K396* Nonsense 10/10 - 1
5-138283007-C-A c.1185G>T p.E395D Missense 10/10 - 1
5-138283007-C-G c.1185G>C p.E395D Missense 10/10 - 1
5-138283009-C-T c.1183G>A p.E395K Missense 10/10 - 1
5-138283010-ACG-TCA c.1180_1182delinsTGA p.R394* Nonsense 10/10 - 1
5-138283011-C-A c.1181G>T p.R394L Missense 10/10 - 1
5-138283011-C-T c.1181G>A p.R394H Missense 10/10 - 1
5-138283012-G-A c.1180C>T p.R394C Missense 10/10 - 3
5-138283012-G-T c.1180C>A p.R394S Missense 10/10 - 1
5-138283015-C-A c.1177G>T p.A393S Missense 10/10 - 1
5-138283015-C-T c.1177G>A p.A393T Missense 10/10 - 1
5-138283018-C-G c.1174G>C p.D392H Missense 10/10 - 1
5-138283018-C-T c.1174G>A p.D392N Missense 10/10 - 1
5-138283020-T-C c.1172A>G p.H391R Missense 10/10 - 1
5-138283021-G-A c.1171C>T p.H391Y Missense 10/10 - 1
5-138283023-T-C c.1169A>G p.E390G Missense 10/10 - 1
5-138283024-C-A c.1168G>T p.E390* Nonsense 10/10 - 1
5-138283024-C-T c.1168G>A p.E390K Missense 10/10 - 3
5-138283025-G-T c.1167C>A p.P389= Synonymous 10/10 - 1
5-138283027-G-A c.1165C>T p.P389S Missense 10/10 - 2
5-138283028-CAG-AAA c.1162_1164delinsTTT p.L388F Missense 10/10 - 1
5-138283029-A-G c.1163T>C p.L388P Missense 10/10 - 1
5-138283030-G-C c.1162C>G p.L388V Missense 10/10 - 1
5-138283031-C-A c.1161G>T p.A387= Synonymous 10/10 - 3
5-138283031-C-G c.1161G>C p.A387= Synonymous 10/10 - 2
5-138283031-C-T c.1161G>A p.A387= Synonymous 10/10 - 2
5-138283033-C-A c.1159G>T p.A387S Missense 10/10 - 1
5-138283033-C-T c.1159G>A p.A387T Missense 10/10 - 1
5-138283035-A-G c.1157T>C p.L386P Missense 10/10 - 1
5-138283036-G-C c.1156C>G p.L386V Missense 10/10 - 2
5-138283038-AG-A c.1153del p.L385Sfs*21 Frameshift 10/10 - 1
5-138283044-G-A c.1148C>T p.A383V Missense 10/10 - 1
5-138283044-G-T c.1148C>A p.A383D Missense 10/10 - 1
5-138283045-C-T c.1147G>A p.A383T Missense 10/10 - 2
5-138283046-C-A c.1146G>T p.T382= Synonymous 10/10 - 1
5-138283047-G-A c.1145C>T p.T382M Missense 10/10 - 2
5-138283049-G-T c.1143C>A p.I381= Synonymous 10/10 - 1
5-138283049-TG-T c.1143del p.T382Rfs*24 Frameshift 10/10 - 1
5-138283050-A-C c.1142T>G p.I381S Missense 10/10 - 1
5-138283050-A-G c.1142T>C p.I381T Missense 10/10 - 1
5-138283051-AT-A c.1141del p.I381Sfs*25 Frameshift 10/10 - 1
5-138283051-T-G c.1141A>C p.I381L Missense 10/10 - 1
5-138283054-C-A c.1138G>T p.E380* Nonsense 10/10 - 1
5-138283054-C-T c.1138G>A p.E380K Missense 10/10 - 4
5-138283055-G-T c.1137C>A p.C379* Nonsense 10/10 - 2
5-138283056-CA-GT c.1135_1136delinsAC p.C379T Missense 10/10 - 1
5-138283058-C-A c.1134G>T p.W378C Missense 10/10 - 1
5-138283060-A-G c.1132T>C p.W378R Missense 10/10 - 1
5-138283060-A-T c.1132T>A p.W378R Missense 10/10 - 1
5-138283062-C-A c.1130G>T p.G377V Missense 10/10 - 1
5-138283063-C-A c.1129G>T p.G377C Missense 10/10 - 1
5-138283063-C-G c.1129G>C p.G377R Missense 10/10 - 1
5-138283066-G-A c.1126C>T p.Q376* Nonsense 10/10 - 2
5-138283068-T-A c.1124A>T p.E375V Missense 10/10 - 1
5-138283068-T-G c.1124A>C p.E375A Missense 10/10 - 1
5-138283070-C-T c.1122G>A p.W374* Nonsense 10/10 - 1
5-138283071-C-T c.1121G>A p.W374* Nonsense 10/10 - 1
5-138283075-G-A c.1117C>T p.L373= Synonymous 10/10 - 1
5-138283075-G-T c.1117C>A p.L373M Missense 10/10 - 2
5-138283077-C-A c.1115G>T p.G372V Missense 10/10 - 1
5-138283077-C-T c.1115G>A p.G372D Missense 10/10 - 3
5-138283080-G-A c.1112C>T p.P371L Missense 10/10 - 1
5-138283080-G-C c.1112C>G p.P371R Missense 10/10 - 1
5-138283081-G-A c.1111C>T p.P371S Missense 10/10 - 1
5-138283081-G-T c.1111C>A p.P371T Missense 10/10 - 1
5-138283084-G-A c.1108C>T p.L370= Synonymous 10/10 - 1
5-138283084-G-T c.1108C>A p.L370M Missense 10/10 - 1
5-138283087-G-A c.1105C>T p.L369F Missense 10/10 - 1
5-138283090-G-A c.1102C>T p.H368Y Missense 10/10 - 2
5-138283092-A-C c.1100T>G p.V367G Missense 10/10 - 1
5-138283093-C-A c.1099G>T p.V367L Missense 10/10 - 2
5-138283093-C-G c.1099G>C p.V367L Missense 10/10 - 2
5-138283093-C-T c.1099G>A p.V367I Missense 10/10 - 1
5-138283094-C-G c.1098G>C p.Q366H Missense 10/10 - 1
5-138283095-T-G c.1097A>C p.Q366P Missense 10/10 - 1
5-138283096-G-A c.1096C>T p.Q366* Nonsense 10/10 - 1
5-138283097-GCG-CCA c.1093_1095delinsTGG p.R365W Missense 10/10 - 1
5-138283097-GC-TT c.1094_1095delinsAA p.R365Q Missense 10/10 - 1
5-138283098-C-T c.1094G>A p.R365H Missense 10/10 - 3
5-138283099-G-A c.1093C>T p.R365C Missense 10/10 - 1
5-138283099-G-C c.1093C>G p.R365G Missense 10/10 - 1
5-138283099-G-T c.1093C>A p.R365S Missense 10/10 - 1
5-138283100-A-G c.1092T>C p.Y364= Synonymous 10/10 - 1
5-138283101-ATACTGCTGC-A c.1083_1091del p.Q362_Y364del InFrameDeletion 10/10 - 1
5-138283104-T-A c.1088A>T p.Q363L Missense 10/10 - 1
5-138283104-T-G c.1088A>C p.Q363P Missense 10/10 - 1
5-138283104-TG-GA c.1087_1088delinsTC p.Q363S Missense 10/10 - 1
5-138283105-G-A c.1087C>T p.Q363* Nonsense 10/10 - 1
5-138283106-C-T c.1086G>A p.Q362= Synonymous 10/10 - 1
5-138283108-G-A c.1084C>T p.Q362* Nonsense 10/10 - 1
5-138283111-G-A c.1081C>T p.L361= Synonymous 10/10 - 1
5-138283111-G-C c.1081C>G p.L361V Missense 10/10 - 1
5-138283111-G-T c.1081C>A p.L361M Missense 10/10 - 1
5-138283114-T-C c.1078A>G p.K360E Missense 10/10 - 1
5-138283115-C-A c.1077G>T p.E359D Missense 10/10 - 2
5-138283117-C-T c.1075G>A p.E359K Missense 10/10 - 1
5-138283120-G-A c.1072C>T p.P358S Missense 10/10 - 2
5-138283122-GA-AG c.1069_1070delinsCT p.S357L Missense 10/10 - 1
5-138283122-G-T c.1070C>A p.S357Y Missense 10/10 - 1
5-138283123-A-G c.1069T>C p.S357P Missense 10/10 - 1
5-138283122-GAC-G c.1068_1069del p.M356Ifs*36 Frameshift 10/10 - 1
5-138283124-C-G c.1068G>C p.M356I Missense 10/10 - 1
5-138283125-A-C c.1067T>G p.M356R Missense 10/10 - 1
5-138283125-A-G c.1067T>C p.M356T Missense 10/10 - 1
5-138283125-A-T c.1067T>A p.M356K Missense 10/10 - 1
5-138283126-T-C c.1066A>G p.M356V Missense 10/10 - 1
5-138283129-C-G c.1063G>C p.E355Q Missense 10/10 - 1
5-138283129-C-T c.1063G>A p.E355K Missense 10/10 - 1
5-138283132-G-A c.1060C>T p.Q354* Nonsense 10/10 - 2
5-138283133-G-C c.1059C>G p.T353= Synonymous 10/10 - 1
5-138283133-GG-CA c.1058_1059delinsTG p.T353M Missense 10/10 - 1
5-138283134-G-A c.1058C>T p.T353I Missense 10/10 - 1
5-138283134-G-T c.1058C>A p.T353N Missense 10/10 - 1
5-138283136-C-A c.1056G>T p.L352= Synonymous 10/10 - 2
5-138283136-CA-AT c.1055_1056delinsAT p.L352H Missense 10/10 - 1
5-138283138-G-A c.1054C>T p.L352= Synonymous 10/10 - 1
5-138283139-C-A c.1053G>T p.E351D Missense 10/10 - 1
5-138283139-C-G c.1053G>C p.E351D Missense 10/10 - 1
5-138283140-T-C c.1052A>G p.E351G Missense 10/10 - 1
5-138283141-C-T c.1051G>A p.E351K Missense 10/10 - 1
5-138283143-G-A c.1049C>T p.A350V Missense 10/10 - 1
5-138283144-C-G c.1048G>C p.A350P Missense 10/10 - 1
5-138283145-C-A c.1047G>T p.E349D Missense 10/10 - 1
5-138283146-T-G c.1046A>C p.E349A Missense 10/10 - 1
5-138283147-C-T c.1045G>A p.E349K Missense 10/10 - 2
5-138283149-T-A c.1043A>T p.E348V Missense 10/10 - 1
5-138283150-C-A c.1042G>T p.E348* Nonsense 10/10 - 2
5-138283151-C-A c.1041G>T p.E347D Missense 10/10 - 1
5-138283153-C-T c.1039G>A p.E347K Missense 10/10 - 2
5-138283154-G-A c.1038C>T p.A346= Synonymous 10/10 - 1
5-138283154-G-C c.1038C>G p.A346= Synonymous 10/10 - 1
5-138283154-G-T c.1038C>A p.A346= Synonymous 10/10 - 1
5-138283155-G-T c.1037C>A p.A346D Missense 10/10 - 1
5-138283156-C-T c.1036G>A p.A346T Missense 10/10 - 2
5-138283157-G-T c.1035C>A p.F345L Missense 10/10 - 1
5-138283159-A-AGC c.1032_1033insGC p.F345Afs*9 Frameshift 10/10 - 2
5-138283161-A-G c.1031T>C p.M344T Missense 10/10 - 1
5-138283162-T-A c.1030A>T p.M344L Missense 10/10 - 1
5-138283162-T-C c.1030A>G p.M344V Missense 10/10 - 1
5-138283162-T-G c.1030A>C p.M344L Missense 10/10 - 1
5-138283171-C-A c.1030-9G>T - IntronicSNV - 9/9 2
5-138283171-C-T c.1030-9G>A - IntronicSNV - 9/9 2
5-138286854-A-G c.1029+6T>C - IntronicSNV - 9/9 1
5-138286859-C-T c.1029+1G>A - IntronicSNV - 9/9 1
5-138286860-CT-GA c.1028_1029delinsTC p.K343I Missense 9/10 - 1
5-138286862-T-C c.1027A>G p.K343E Missense 9/10 - 1
5-138286861-TTC-T c.1026_1027del p.K343Dfs*8 Frameshift 9/10 - 1
5-138286866-C-T c.1023G>A p.T341= Synonymous 9/10 - 1
5-138286867-G-A c.1022C>T p.T341M Missense 9/10 - 1
5-138286868-T-G c.1021A>C p.T341P Missense 9/10 - 1
5-138286870-A-G c.1019T>C p.V340A Missense 9/10 - 1
5-138286871-C-G c.1018G>C p.V340L Missense 9/10 - 2
5-138286871-C-T c.1018G>A p.V340I Missense 9/10 - 2
5-138286872-C-A c.1017G>T p.L339= Synonymous 9/10 - 1
5-138286873-A-G c.1016T>C p.L339P Missense 9/10 - 1
5-138286873-AG-A c.1015del p.L339Wfs*14 Frameshift 9/10 - 1
5-138286877-C-A c.1012G>T p.D338Y Missense 9/10 - 1
5-138286877-C-T c.1012G>A p.D338N Missense 9/10 - 1
5-138286878-G-A c.1011C>T p.Y337= Synonymous 9/10 - 2
5-138286882-AG-CT c.1006_1007inv p.L336S Missense 9/10 - 1
5-138286883-G-A c.1006C>T p.L336F Missense 9/10 - 1
5-138286892-C-T c.997G>A p.V333I Missense 9/10 - 1
5-138286893-CAC-GAT c.994_996delinsATC p.V332I Missense 9/10 - 1
5-138286895-C-T c.994G>A p.V332M Missense 9/10 - 5
5-138286896-GCG-CTT c.991_993delinsAAG p.R331K Missense 9/10 - 1
5-138286896-GCG-TCA c.991_993delinsTGA p.R331* Nonsense 9/10 - 1
5-138286897-CG-GC c.991_992delinsGC p.R331A Missense 9/10 - 1
5-138286897-C-T c.992G>A p.R331H Missense 9/10 - 2
5-138286898-G-A c.991C>T p.R331C Missense 9/10 - 3
5-138286900-AC-CA c.988_989delinsTG p.V330W Missense 9/10 - 1
5-138286901-C-A c.988G>T p.V330L Missense 9/10 - 1
5-138286901-C-T c.988G>A p.V330M Missense 9/10 - 1
5-138286903-G-A c.986C>T p.A329V Missense 9/10 - 5
5-138286903-G-C c.986C>G p.A329G Missense 9/10 - 1
5-138286904-C-T c.985G>A p.A329T Missense 9/10 - 3
5-138286904-GCGAGCACCTCCGTGCCCTTCTCCTGCACCAGGGTCCTCAGGACCTGCAGCCCCCCGAGC-G c.927_985del p.K309Nfs*23 MultiAAMissense 9/10 - 1
5-138286905-G-A c.984C>T p.L328= Synonymous 9/10 - 1
5-138286905-G-C c.984C>G p.L328= Synonymous 9/10 - 1
5-138286905-G-T c.984C>A p.L328= Synonymous 9/10 - 1
5-138286906-A-T c.983T>A p.L328H Missense 9/10 - 1
5-138286908-GCACCTCCGTGCCCTTCTCCTGCACCAGGGTCCTCAGGACCTGCAGCCCCCCGAGCTTCA-G c.923_981del p.L308Pfs*24 InFrameDeletion 9/10 - 1
5-138286909-A-C c.980T>G p.V327G Missense 9/10 - 1
5-138286910-C-T c.979G>A p.V327M Missense 9/10 - 1
5-138286913-C-T c.976G>A p.E326K Missense 9/10 - 1
5-138286915-G-A c.974C>T p.T325M Missense 9/10 - 1
5-138286916-T-C c.973A>G p.T325A Missense 9/10 - 2
5-138286918-C-A c.971G>T p.G324V Missense 9/10 - 1
5-138286918-C-T c.971G>A p.G324D Missense 9/10 - 1
5-138286919-C-A c.970G>T p.G324C Missense 9/10 - 1
5-138286920-CTT-ATG c.967_969delinsCAT p.K323H Missense 9/10 - 1
5-138286920-CTT-GTC c.967_969delinsGAC p.K323D Missense 9/10 - 1
5-138286921-T-C c.968A>G p.K323R Missense 9/10 - 1
5-138286920-CT-C c.968del p.K323Rfs*30 Frameshift 9/10 - 1
5-138286922-T-C c.967A>G p.K323E Missense 9/10 - 1
5-138286922-T-G c.967A>C p.K323Q Missense 9/10 - 1
5-138286924-T-G c.965A>C p.E322A Missense 9/10 - 1
5-138286922-TCTC-T c.964_966del p.E322del InFrameDeletion 9/10 - 1
5-138286925-C-A c.964G>T p.E322* Nonsense 9/10 - 1
5-138286925-C-T c.964G>A p.E322K Missense 9/10 - 2
5-138286924-TC-T c.964del p.E322Rfs*31 Frameshift 9/10 - 1
5-138286929-CAC-GAT c.958_960delinsATC p.V320I Missense 9/10 - 1
5-138286931-C-T c.958G>A p.V320M Missense 9/10 - 1
5-138286932-C-A c.957G>T p.L319= Synonymous 9/10 - 1
5-138286932-CCAGG-C c.954_957del p.L319Cfs*33 Frameshift 9/10 - 1
5-138286932-C-T c.957G>A p.L319= Synonymous 9/10 - 2
5-138286934-G-A c.955C>T p.L319= Synonymous 9/10 - 1
5-138286934-GGGTCCTCAGGACCTGCAGCCCCCC-G c.931_954del p.G311_T318del InFrameDeletion 9/10 - 1
5-138286938-CCT-ACA c.949_951delinsTGT p.R317C Missense 9/10 - 1
5-138286939-CT-GC c.949_950delinsGC p.R317A Missense 9/10 - 1
5-138286939-CT-TG c.949_950delinsCA p.R317Q Missense 9/10 - 2
5-138286940-T-A c.949A>T p.R317W Missense 9/10 - 1
5-138286943-G-A c.946C>T p.L316= Synonymous 9/10 - 1
5-138286946-C-T c.943G>A p.V315I Missense 9/10 - 1
5-138286947-C-A c.942G>T p.Q314H Missense 9/10 - 1
5-138286947-C-CT c.941dup p.V315Gfs*37 Frameshift 9/10 - 1
5-138286948-CT-C c.941del p.Q314Rfs*3 Frameshift 9/10 - 1
5-138286948-T-G c.941A>C p.Q314P Missense 9/10 - 1
5-138286950-CAG-GAT c.937_939delinsATC p.L313I Missense 9/10 - 1
5-138286950-C-CAGG c.938_939insCCT p.L313dup InFrameInsertion 9/10 - 1
5-138286952-G-A c.937C>T p.L313= Synonymous 9/10 - 1
5-138286952-G-C c.937C>G p.L313V Missense 9/10 - 1
5-138286952-G-T c.937C>A p.L313M Missense 9/10 - 2
5-138286953-C-A c.936G>T p.G312= Synonymous 9/10 - 1
5-138286955-C-G c.934G>C p.G312R Missense 9/10 - 3
5-138286955-C-T c.934G>A p.G312R Missense 9/10 - 4
5-138286956-C-T c.933G>A p.G311= Synonymous 9/10 - 1
5-138286957-C-G c.932G>C p.G311A Missense 9/10 - 1
5-138286957-C-T c.932G>A p.G311E Missense 9/10 - 1
5-138286952-G-GC c.936dup p.L313Afs*39 Frameshift 9/10 - 3
5-138286958-C-T c.931G>A p.G311R Missense 9/10 - 1
5-138286959-G-GGTTTTTCATGGAGGATATTGTTCTAGCTAATCA c.929_930insTGATTAGCTAGAACAATATCCTCCATGAAAAAC p.L310_G311insD* Frameshift 9/10 - 1
5-138286959-G-GTTCTAGCTAATCA c.929_930insTGATTAGCTAGAA p.G311Dfs*2 Frameshift 9/10 - 1
5-138286961-G-T c.928C>A p.L310I Missense 9/10 - 1
5-138286963-T-G c.926A>C p.K309T Missense 9/10 - 1
5-138286967-G-C c.922C>G p.L308V Missense 9/10 - 1
5-138286969-A-T c.920T>A p.F307Y Missense 9/10 - 1
5-138286968-G-C c.921C>G p.F307L Missense 9/10 - 1
5-138286968-G-T c.921C>A p.F307L Missense 9/10 - 1
5-138286970-A-G c.919T>C p.F307L Missense 9/10 - 1
5-138286971-C-T c.918G>A p.Q306= Synonymous 9/10 - 1
5-138286972-T-G c.917A>C p.Q306P Missense 9/10 - 1
5-138286973-G-A c.916C>T p.Q306* Nonsense 9/10 - 6
5-138286974-CC-AT c.914_915delinsAT p.R305H Missense 9/10 - 2
5-138286974-CCG-GAT c.913_915delinsATC p.R305I Missense 9/10 - 1
5-138286975-C-A c.914G>T p.R305L Missense 9/10 - 1
5-138286975-CG-GT c.913_914delinsAC p.R305T Missense 9/10 - 1
5-138286975-C-T c.914G>A p.R305Q Missense 9/10 - 1
5-138286976-G-A c.913C>T p.R305W Missense 9/10 - 2
5-138286976-G-T c.913C>A p.R305= Synonymous 9/10 - 1
5-138286977-C-A c.912G>T p.Q304H Missense 9/10 - 1
5-138286980-G-T c.909C>A p.A303= Synonymous 9/10 - 1
5-138286982-C-A c.907G>T p.A303S Missense 9/10 - 1
5-138286982-C-T c.907G>A p.A303T Missense 9/10 - 1
5-138286984-T-C c.905A>G p.Y302C Missense 9/10 - 2
5-138286985-A-G c.904T>C p.Y302H Missense 9/10 - 1
5-138286986-G-A c.903C>T p.P301= Synonymous 9/10 - 1
5-138286986-G-C c.903C>G p.P301= Synonymous 9/10 - 1
5-138286986-G-T c.903C>A p.P301= Synonymous 9/10 - 1
5-138286987-G-A c.902C>T p.P301L Missense 9/10 - 7
5-138286987-G-C c.902C>G p.P301R Missense 9/10 - 5
5-138286987-G-T c.902C>A p.P301H Missense 9/10 - 1
5-138286988-G-A c.901C>T p.P301S Missense 9/10 - 4
5-138286985-AG-A c.903del p.Y302Mfs*7 Frameshift 9/10 - 1
5-138286989-G-A c.900C>T p.F300= Synonymous 9/10 - 2
5-138286990-A-C c.899T>G p.F300C Missense 9/10 - 1
5-138286990-A-T c.899T>A p.F300Y Missense 9/10 - 1
5-138286993-TG-GC c.895_896delinsGC p.H299A Missense 9/10 - 1
5-138286994-G-C c.895C>G p.H299D Missense 9/10 - 1
5-138286995-G-A c.894C>T p.R298= Synonymous 9/10 - 1
5-138286995-G-C c.894C>G p.R298= Synonymous 9/10 - 1
5-138286995-GCG-CCA c.892_894delinsTGG p.R298W Missense 9/10 - 1
5-138286995-GC-TT c.893_894delinsAA p.R298Q Missense 9/10 - 1
5-138286995-GGCGC-G c.891_894del p.R298Tfs*10 Frameshift 9/10 - 1
5-138286995-G-T c.894C>A p.R298= Synonymous 9/10 - 1
5-138286996-C-T c.893G>A p.R298H Missense 9/10 - 4
5-138286997-G-A c.892C>T p.R298C Missense 9/10 - 2
5-138287000-G-A c.889C>T p.L297= Synonymous 9/10 - 1
5-138287000-G-C c.889C>G p.L297V Missense 9/10 - 1
5-138287001-C-A c.888G>T p.L296= Synonymous 9/10 - 1
5-138287005-G-A c.884C>T p.S295F Missense 9/10 - 2
5-138287006-A-T c.883T>A p.S295T Missense 9/10 - 2
5-138287008-CA-GC c.880_881delinsGC p.C294A Missense 9/10 - 1
5-138287008-C-T c.881G>A p.C294Y Missense 9/10 - 1
5-138287010-C-A c.879G>T p.L293= Synonymous 9/10 - 3
5-138287010-CAG-GTC c.877_879delinsGAC p.L293D Missense 9/10 - 1
5-138287010-C-G c.879G>C p.L293= Synonymous 9/10 - 1
5-138287010-C-T c.879G>A p.L293= Synonymous 9/10 - 1
5-138287011-CA-C c.878del p.L293Rfs*16 Frameshift 9/10 - 1
5-138287012-G-A c.877C>T p.L293= Synonymous 9/10 - 2
5-138287012-G-GA c.876_877insT p.L293Sfs*59 Frameshift 9/10 - 1
5-138287013-T-A c.876A>T p.A292= Synonymous 9/10 - 1
5-138287013-T-C c.876A>G p.A292= Synonymous 9/10 - 1
5-138287014-G-A c.875C>T p.A292V Missense 9/10 - 1
5-138287015-C-T c.874G>A p.A292T Missense 9/10 - 1
5-138287017-A-C c.872T>G p.F291C Missense 9/10 - 1
5-138287020-A-G c.869T>C p.L290P Missense 9/10 - 1
5-138287021-G-A c.868C>T p.L290= Synonymous 9/10 - 1
5-138287022-G-T c.867C>A p.V289= Synonymous 9/10 - 1
5-138287023-A-G c.866T>C p.V289A Missense 9/10 - 3
5-138287024-C-T c.865G>A p.V289I Missense 9/10 - 1
5-138287062-C-A c.865-38G>T - IntronicSNV - 8/9 1
5-138287062-C-T c.865-38G>A - IntronicSNV - 8/9 1
5-138287476-C-G c.864+1G>C - IntronicSNV - 8/9 2
5-138287477-C-A c.864G>T p.K288N Missense 8/10 - 1
5-138287477-C-CAGA c.863_864insTCT p.K288delinsNL SpliceDonorInsertion 8/10 - 1
5-138287477-C-G c.864G>C p.K288N Missense 8/10 - 1
5-138287477-CT-C c.863del p.K288Rfs*21 Frameshift 8/10 - 1
5-138287479-T-G c.862A>C p.K288Q Missense 8/10 - 1
5-138287480-C-A c.861G>T p.K287N Missense 8/10 - 1
5-138287480-C-G c.861G>C p.K287N Missense 8/10 - 1
5-138287481-T-G c.860A>C p.K287T Missense 8/10 - 1
5-138287480-CTTCT-C c.857_860del p.K286Rfs*22 Frameshift 8/10 - 2
5-138287483-C-A c.858G>T p.K286N Missense 8/10 - 1
5-138287483-C-T c.858G>A p.K286= Synonymous 8/10 - 1
5-138287485-T-TA c.855_856insT p.K286* Nonsense 8/10 - 1
5-138287486-T-A c.855A>T p.A285= Synonymous 8/10 - 1
5-138287486-T-C c.855A>G p.A285= Synonymous 8/10 - 3
5-138287486-T-G c.855A>C p.A285= Synonymous 8/10 - 1
5-138287487-G-A c.854C>T p.A285V Missense 8/10 - 2
5-138287488-C-T c.853G>A p.A285T Missense 8/10 - 2
5-138287491-T-A c.850A>T p.T284S Missense 8/10 - 1
5-138287492-G-A c.849C>T p.L283= Synonymous 8/10 - 1
5-138287492-GAG-TTA c.847_849delinsTAA p.L283* Nonsense 8/10 - 1
5-138287493-A-G c.848T>C p.L283P Missense 8/10 - 1
5-138287494-G-A c.847C>T p.L283F Missense 8/10 - 2
5-138287496-G-A c.845C>T p.P282L Missense 8/10 - 8
5-138287497-G-A c.844C>T p.P282S Missense 8/10 - 2
5-138287499-T-C c.842A>G p.Q281R Missense 8/10 - 1
5-138287500-G-A c.841C>T p.Q281* Nonsense 8/10 - 1
5-138287501-C-T c.840G>A p.E280= Synonymous 8/10 - 1
5-138287502-T-G c.839A>C p.E280A Missense 8/10 - 1
5-138287503-C-T c.838G>A p.E280K Missense 8/10 - 1
5-138287504-C-A c.837G>T p.T279= Synonymous 8/10 - 1
5-138287504-CGT-GTC c.835_837delinsGAC p.T279D Missense 8/10 - 1
5-138287504-C-T c.837G>A p.T279= Synonymous 8/10 - 1
5-138287505-G-A c.836C>T p.T279M Missense 8/10 - 2
5-138287505-GT-TC c.835_836delinsGA p.T279E Missense 8/10 - 1
5-138287506-T-A c.835A>T p.T279S Missense 8/10 - 1
5-138287506-T-C c.835A>G p.T279A Missense 8/10 - 2
5-138287508-G-A c.833C>T p.A278V Missense 8/10 - 1
5-138287508-G-T c.833C>A p.A278D Missense 8/10 - 1
5-138287509-C-G c.832G>C p.A278P Missense 8/10 - 1
5-138287509-C-T c.832G>A p.A278T Missense 8/10 - 2
5-138287511-A-G c.830T>C p.L277P Missense 8/10 - 2
5-138287512-G-A c.829C>T p.L277= Synonymous 8/10 - 1
5-138287515-AT-A c.826del p.I276Sfs*33 Frameshift 8/10 - 1
5-138287516-G-C c.825C>G p.V275= Synonymous 8/10 - 1
5-138287517-A-C c.824T>G p.V275G Missense 8/10 - 1
5-138287517-A-G c.824T>C p.V275A Missense 8/10 - 1
5-138287518-C-T c.823G>A p.V275I Missense 8/10 - 1
5-138287519-C-A c.822G>T p.L274= Synonymous 8/10 - 1
5-138287520-A-G c.821T>C p.L274P Missense 8/10 - 1
5-138287521-G-A c.820C>T p.L274= Synonymous 8/10 - 1
5-138287523-A-C c.818T>G p.L273R Missense 8/10 - 2
5-138287523-A-T c.818T>A p.L273Q Missense 8/10 - 1
5-138287524-G-A c.817C>T p.L273= Synonymous 8/10 - 1
5-138287524-G-T c.817C>A p.L273M Missense 8/10 - 1
5-138287527-T-C c.814A>G p.K272E Missense 8/10 - 1
5-138287530-G-A c.811C>T p.Q271* Nonsense 8/10 - 1
5-138287530-TG-T c.811del p.Q271Rfs*38 Frameshift 8/10 - 1
5-138287531-C-A c.810G>T p.L270= Synonymous 8/10 - 1
5-138287536-C-G c.805G>C p.A269P Missense 8/10 - 1
5-138287537-TCC-ACA c.802_804delinsTGT p.G268C Missense 8/10 - 1
5-138287538-C-T c.803G>A p.G268E Missense 8/10 - 1
5-138287539-C-G c.802G>C p.G268R Missense 8/10 - 1
5-138287540-C-A c.801G>T p.G267= Synonymous 8/10 - 1
5-138287541-C-T c.800G>A p.G267E Missense 8/10 - 1
5-138287542-C-A c.799G>T p.G267W Missense 8/10 - 1
5-138287542-C-T c.799G>A p.G267R Missense 8/10 - 2
5-138287543-T-A c.798A>T p.E266D Missense 8/10 - 1
5-138287543-T-G c.798A>C p.E266D Missense 8/10 - 1
5-138287545-C-T c.796G>A p.E266K Missense 8/10 - 4
5-138287545-TCGATGGCCTCC-T c.786_796del p.E263Rfs*85 Frameshift 8/10 - 1
5-138287546-CG-C c.795del p.I265Mfs*44 Frameshift 8/10 - 2
5-138287548-TG-T c.792del p.I265Sfs*44 Frameshift 8/10 - 1
5-138287550-G-A c.791C>T p.A264V Missense 8/10 - 1
5-138287550-GC-CA c.790_791delinsTG p.A264C Missense 8/10 - 2
5-138287551-C-T c.790G>A p.A264T Missense 8/10 - 2
5-138287550-G-GC c.790dup p.A264Gfs*88 Frameshift 8/10 - 1
5-138287554-C-A c.787G>T p.E263* Nonsense 8/10 - 1
5-138287554-C-T c.787G>A p.E263K Missense 8/10 - 2
5-138287555-C-A c.786G>T p.V262= Synonymous 8/10 - 1
5-138287557-C-T c.784G>A p.V262M Missense 8/10 - 2
5-138287558-C-A c.783G>T p.Q261H Missense 8/10 - 2
5-138287558-C-G c.783G>C p.Q261H Missense 8/10 - 2
5-138287560-G-A c.781C>T p.Q261* Nonsense 8/10 - 4
5-138287561-GAC-CAT c.778_780delinsATG p.V260M Missense 8/10 - 1
5-138287562-A-G c.779T>C p.V260A Missense 8/10 - 1
5-138287562-A-T c.779T>A p.V260D Missense 8/10 - 1
5-138287563-C-A c.778G>T p.V260F Missense 8/10 - 1
5-138287563-C-T c.778G>A p.V260I Missense 8/10 - 1
5-138287565-T-C c.776A>G p.K259R Missense 8/10 - 1
5-138287566-T-C c.775A>G p.K259E Missense 8/10 - 1
5-138287568-G-A c.773C>T p.P258L Missense 8/10 - 2
5-138287568-G-T c.773C>A p.P258H Missense 8/10 - 2
5-138287566-TGG-T c.773_774del p.P258Qfs*93 Frameshift 8/10 - 1
5-138287569-G-T c.772C>A p.P258T Missense 8/10 - 1
5-138287570-G-A c.771C>T p.N257= Synonymous 8/10 - 1
5-138287572-T-G c.769A>C p.N257H Missense 8/10 - 1
5-138287573-G-C c.768C>G p.S256R Missense 8/10 - 1
5-138287573-G-T c.768C>A p.S256R Missense 8/10 - 1
5-138356861-T-G c.766A>C p.S256R Missense 7/10 - 1
5-138290775-C-T c.768-3202G>A - IntronicSNV - 7/9 1
5-138291405-A-G c.768-3832T>C - IntronicSNV - 7/9 1
5-138301828-A-G c.768-14255T>C - IntronicSNV - 7/9 1
5-138309067-A-G c.768-21494T>C - IntronicSNV - 7/9 1
5-138314106-C-A c.768-26533G>T - IntronicSNV - 7/9 1
5-138314106-C-T c.768-26533G>A - IntronicSNV - 7/9 1
5-138333664-T-C c.767+23196A>G - IntronicSNV - 7/9 1
5-138336648-G-A c.767+20212C>T - IntronicSNV - 7/9 1
5-138336772-G-T c.767+20088C>A - IntronicSNV - 7/9 1
5-138336770-T-TG c.767+20089dup - IntronicInsertion - 7/9 1
5-138341606-A-C c.767+15254T>G - IntronicSNV - 7/9 1
5-138341606-A-G c.767+15254T>C - IntronicSNV - 7/9 1
5-138350233-C-A c.767+6627G>T - IntronicSNV - 7/9 1
5-138352538-CT-C c.767+4321del - IntronicDeletion - 7/9 1
5-138355612-C-CT c.767+1247dup - IntronicInsertion - 7/9 1
5-138356756-G-A c.767+104C>T - IntronicSNV - 7/9 2
5-138356775-C-A c.767+85G>T - IntronicSNV - 7/9 2
5-138356860-C-A c.767G>T p.S256I Missense 7/10 - 1
5-138356860-CT-AA c.766_767delinsTT p.S256F Missense 7/10 - 1
5-138356860-CT-AG c.766_767inv p.S256L Missense 7/10 - 1
5-138356860-CT-GC c.766_767delinsGC p.S256A Missense 7/10 - 1
5-138356861-CTGG-C c.764_766del p.S255_S256delinsC SpliceDonorDeletion 7/10 - 1
5-138356863-G-A c.764C>T p.S255F Missense 7/10 - 2
5-138356863-GA-AG c.763_764delinsCT p.S255L Missense 7/10 - 1
5-138356863-G-C c.764C>G p.S255C Missense 7/10 - 2
5-138356864-A-C c.763T>G p.S255A Missense 7/10 - 1
5-138356866-A-G c.761T>C p.F254S Missense 7/10 - 1
5-138356867-A-C c.760T>G p.F254V Missense 7/10 - 1
5-138356868-G-T c.759C>A p.A253= Synonymous 7/10 - 1
5-138356869-G-A c.758C>T p.A253V Missense 7/10 - 2
5-138356872-G-A c.755C>T p.A252V Missense 7/10 - 1
5-138356871-AGCGCCCAGCACAAACGCAGCATACTCCTTCACGAGG-A c.720_755del p.L241_A252del InFrameDeletion 7/10 - 1
5-138356873-C-T c.754G>A p.A252T Missense 7/10 - 4
5-138356871-AGC-A c.754_755del p.A252Cfs*99 Frameshift 7/10 - 1
5-138356875-C-A c.752G>T p.G251V Missense 7/10 - 1
5-138356875-C-T c.752G>A p.G251D Missense 7/10 - 1
5-138356876-C-G c.751G>C p.G251R Missense 7/10 - 1
5-138356876-C-T c.751G>A p.G251S Missense 7/10 - 1
5-138356874-GC-G c.752del p.G251Afs*58 Frameshift 7/10 - 1
5-138356877-C-A c.750G>T p.L250= Synonymous 7/10 - 1
5-138356878-A-G c.749T>C p.L250P Missense 7/10 - 1
5-138356880-CAC-GAT c.745_747delinsATC p.V249I Missense 7/10 - 1
5-138356880-C-CATG c.746_747insCAT p.V249_L250insM InFrameInsertion 7/10 - 1
5-138356883-A-C c.744T>G p.F248L Missense 7/10 - 1
5-138356883-A-T c.744T>A p.F248L Missense 7/10 - 1
5-138356885-A-G c.742T>C p.F248L Missense 7/10 - 1
5-138356886-C-A c.741G>T p.A247= Synonymous 7/10 - 1
5-138356886-C-G c.741G>C p.A247= Synonymous 7/10 - 1
5-138356886-CG-GT c.740_741delinsAC p.A247D Missense 7/10 - 1
5-138356886-C-T c.741G>A p.A247= Synonymous 7/10 - 1
5-138356887-G-A c.740C>T p.A247V Missense 7/10 - 1
5-138356888-C-T c.739G>A p.A247T Missense 7/10 - 1
5-138356890-G-A c.737C>T p.A246V Missense 7/10 - 1
5-138356891-C-T c.736G>A p.A246T Missense 7/10 - 2
5-138356895-C-A c.732G>T p.E244D Missense 7/10 - 1
5-138356896-T-A c.731A>T p.E244V Missense 7/10 - 1
5-138356896-T-C c.731A>G p.E244G Missense 7/10 - 1
5-138356897-C-T c.730G>A p.E244K Missense 7/10 - 3
5-138356901-CAC-GAT c.724_726delinsATC p.V242I Missense 7/10 - 1
5-138356902-A-AC c.724dup p.V242Gfs*110 Frameshift 7/10 - 1
5-138356903-C-A c.724G>T p.V242L Missense 7/10 - 1
5-138356903-C-G c.724G>C p.V242L Missense 7/10 - 1
5-138356903-C-T c.724G>A p.V242M Missense 7/10 - 3
5-138356904-G-A c.723C>T p.L241= Synonymous 7/10 - 2
5-138356904-G-T c.723C>A p.L241= Synonymous 7/10 - 1
5-138356908-G-A c.719C>T p.P240L Missense 7/10 - 1
5-138356908-G-C c.719C>G p.P240R Missense 7/10 - 1
5-138356910-C-A c.717G>T p.E239D Missense 7/10 - 1
5-138356910-C-G c.717G>C p.E239D Missense 7/10 - 1
5-138356912-C-CA c.714_715insT p.E239* Nonsense 7/10 - 1
5-138356912-C-G c.715G>C p.E239Q Missense 7/10 - 1
5-138356912-C-T c.715G>A p.E239K Missense 7/10 - 2
5-138356913-T-A c.714A>T p.T238= Synonymous 7/10 - 1
5-138356913-T-C c.714A>G p.T238= Synonymous 7/10 - 1
5-138356913-T-G c.714A>C p.T238= Synonymous 7/10 - 1
5-138356913-TG-CA c.713_714inv p.T238M Missense 7/10 - 1
5-138356914-G-A c.713C>T p.T238I Missense 7/10 - 1
5-138356914-G-C c.713C>G p.T238R Missense 7/10 - 1
5-138356914-G-T c.713C>A p.T238K Missense 7/10 - 1
5-138356914-TG-T c.713del p.T238Kfs*5 Frameshift 7/10 - 1
5-138356915-T-G c.712A>C p.T238P Missense 7/10 - 1
5-138356917-C-A c.710G>T p.S237I Missense 7/10 - 2
5-138356917-C-T c.710G>A p.S237N Missense 7/10 - 1
5-138356918-CTGTTCA-C c.704_709del p.L235_S237delinsR MultiAAMissense 7/10 - 1
5-138356918-T-A c.709A>T p.S237C Missense 7/10 - 1
5-138356919-G-C c.708C>G p.N236K Missense 7/10 - 1
5-138356919-G-T c.708C>A p.N236K Missense 7/10 - 1
5-138356920-T-C c.707A>G p.N236S Missense 7/10 - 2
5-138356922-C-A c.705G>T p.L235= Synonymous 7/10 - 1
5-138356922-C-G c.705G>C p.L235= Synonymous 7/10 - 1
5-138356922-C-T c.705G>A p.L235= Synonymous 7/10 - 1
5-138356924-G-A c.703C>T p.L235= Synonymous 7/10 - 1
5-138356923-A-G c.704T>C p.L235P Missense 7/10 - 1
5-138356923-AG-GC c.703_704delinsGC p.L235A Missense 7/10 - 1
5-138356924-G-C c.703C>G p.L235V Missense 7/10 - 1
5-138356925-CCC-GCT c.700_702delinsAGC p.G234S Missense 7/10 - 1
5-138356925-C-T c.702G>A p.G234= Synonymous 7/10 - 1
5-138356927-C-A c.700G>T p.G234W Missense 7/10 - 1
5-138356927-C-T c.700G>A p.G234R Missense 7/10 - 1
5-138356928-A-C c.699T>G p.N233K Missense 7/10 - 1
5-138356928-ATT-TTG c.697_699delinsCAA p.N233Q Missense 7/10 - 1
5-138356926-CCATTGAT-C c.694_700del p.I232Gfs*2 Frameshift 7/10 - 1
5-138356931-G-A c.696C>T p.I232= Synonymous 7/10 - 1
5-138356931-G-T c.696C>A p.I232= Synonymous 7/10 - 2
5-138356931-TGATCAC-T c.691_696del p.V231_I232del InFrameDeletion 7/10 - 2
5-138356932-A-C c.695T>G p.I232S Missense 7/10 - 1
5-138356933-T-C c.694A>G p.I232V Missense 7/10 - 1
5-138356934-C-A c.693G>T p.V231= Synonymous 7/10 - 1
5-138356934-CAC-GAT c.691_693delinsATC p.V231I Missense 7/10 - 1
5-138356937-CAC-GAT c.688_690delinsATC p.V230I Missense 7/10 - 1
5-138356938-A-G c.689T>C p.V230A Missense 7/10 - 1
5-138356939-C-A c.688G>T p.V230L Missense 7/10 - 1
5-138356939-C-T c.688G>A p.V230M Missense 7/10 - 2
5-138356942-G-C c.685C>G p.Q229E Missense 7/10 - 2
5-138356944-A-C c.683T>G p.L228R Missense 7/10 - 1
5-138356945-G-A c.682C>T p.L228F Missense 7/10 - 4
5-138356946-AC-CT c.680_681delinsAG p.G227E Missense 7/10 - 1
5-138356946-ACC-TCA c.679_681delinsTGA p.G227* Nonsense 7/10 - 1
5-138356947-C-T c.680G>A p.G227D Missense 7/10 - 1
5-138356948-C-T c.679G>A p.G227S Missense 7/10 - 1
5-138356949-AC-CT c.677_678delinsAG p.G226E Missense 7/10 - 1
5-138356950-C-T c.677G>A p.G226D Missense 7/10 - 3
5-138356951-C-G c.676G>C p.G226R Missense 7/10 - 1
5-138356953-A-G c.674T>C p.F225S Missense 7/10 - 1
5-138356955-G-A c.672C>T p.S224= Synonymous 7/10 - 3
5-138356955-G-C c.672C>G p.S224= Synonymous 7/10 - 1
5-138356955-G-T c.672C>A p.S224= Synonymous 7/10 - 1
5-138356954-A-AG c.672dup p.F225Lfs*127 Frameshift 7/10 - 1
5-138356956-G-A c.671C>T p.S224F Missense 7/10 - 3
5-138356956-GA-CG c.670_671delinsCG p.S224R Missense 7/10 - 1
5-138356957-A-T c.670T>A p.S224T Missense 7/10 - 1
5-138356960-G-A c.667C>T p.L223F Missense 7/10 - 1
5-138356962-A-C c.665T>G p.L222R Missense 7/10 - 1
5-138356964-G-C c.663C>G p.D221E Missense 7/10 - 1
5-138356964-G-T c.663C>A p.D221E Missense 7/10 - 1
5-138356965-T-G c.662A>C p.D221A Missense 7/10 - 1
5-138356966-C-A c.661G>T p.D221Y Missense 7/10 - 1
5-138356966-C-T c.661G>A p.D221N Missense 7/10 - 3
5-138356968-T-C c.659A>G p.Q220R Missense 7/10 - 1
5-138356969-G-C c.658C>G p.Q220E Missense 7/10 - 1
5-138356971-G-A c.656C>T p.A219V Missense 7/10 - 3
5-138356972-C-CCACCA c.654_655insTGGTG p.A219Wfs*15 Frameshift 7/10 - 1
5-138356974-T-C c.653A>G p.N218S Missense 7/10 - 3
5-138356973-ATTGTCCATCTGCAACAGAGCCACTGCTTAGTACAGCATAGCCATCAGGGACAGGAAAGC-A c.646-51_653del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 7/10 6/9 1
5-138356975-T-C c.652A>G p.N218D Missense 7/10 - 1
5-138356977-T-C c.650A>G p.D217G Missense 7/10 - 2
5-138356977-T-G c.650A>C p.D217A Missense 7/10 - 1
5-138356978-C-A c.649G>T p.D217Y Missense 7/10 - 1
5-138356979-C-A c.648G>T p.M216I Missense 7/10 - 2
5-138357093-T-G c.646-112A>C - IntronicSNV - 6/9 1
5-138357211-A-G c.646-230T>C - IntronicSNV - 6/9 3
5-138362488-A-G c.645+2T>C - IntronicSNV - 6/9 2
5-138362488-AC-A c.645+1del - Frameshift 6/10 - 1
5-138362490-C-A c.645G>T p.Q215H Missense 6/10 - 1
5-138362490-C-G c.645G>C p.Q215H Missense 6/10 - 1
5-138362492-G-A c.643C>T p.Q215* Nonsense 6/10 - 1
5-138362493-A-G c.642T>C p.H214= Synonymous 6/10 - 1
5-138362494-T-C c.641A>G p.H214R Missense 6/10 - 1
5-138362494-TG-GC c.640_641delinsGC p.H214A Missense 6/10 - 1
5-138362495-G-T c.640C>A p.H214N Missense 6/10 - 1
5-138362496-GGACATAATA-G c.631_639del p.Y211_V213del InFrameDeletion 6/10 - 1
5-138362497-A-G c.638T>C p.V213A Missense 6/10 - 3
5-138362498-C-A c.637G>T p.V213F Missense 6/10 - 1
5-138362500-TA-T c.634del p.Y212Mfs*20 Frameshift 6/10 - 1
5-138362505-T-A c.630A>T p.E210D Missense 6/10 - 1
5-138362505-T-G c.630A>C p.E210D Missense 6/10 - 1
5-138362507-C-A c.628G>T p.E210* Nonsense 6/10 - 1
5-138362507-C-G c.628G>C p.E210Q Missense 6/10 - 1
5-138362507-C-T c.628G>A p.E210K Missense 6/10 - 2
5-138362508-A-C c.627T>G p.L209= Synonymous 6/10 - 1
5-138362507-C-CA c.627dup p.E210* Nonsense 6/10 - 1
5-138362509-A-C c.626T>G p.L209R Missense 6/10 - 1
5-138362510-G-A c.625C>T p.L209F Missense 6/10 - 1
5-138362511-A-C c.624T>G p.D208E Missense 6/10 - 1
5-138362511-A-T c.624T>A p.D208E Missense 6/10 - 1
5-138362516-A-C c.619T>G p.F207V Missense 6/10 - 1
5-138362517-G-A c.618C>T p.L206= Synonymous 6/10 - 2
5-138362517-GAG-CTC c.616_618inv p.L206E Missense 6/10 - 1
5-138362517-G-T c.618C>A p.L206= Synonymous 6/10 - 1
5-138362518-A-C c.617T>G p.L206R Missense 6/10 - 1
5-138362518-A-G c.617T>C p.L206P Missense 6/10 - 1
5-138362518-A-T c.617T>A p.L206H Missense 6/10 - 1
5-138362520-C-A c.615G>T p.A205= Synonymous 6/10 - 1
5-138362520-C-T c.615G>A p.A205= Synonymous 6/10 - 2
5-138362521-G-A c.614C>T p.A205V Missense 6/10 - 3
5-138362521-G-C c.614C>G p.A205G Missense 6/10 - 1
5-138362522-C-T c.613G>A p.A205T Missense 6/10 - 1
5-138362524-G-A c.611C>T p.A204V Missense 6/10 - 2
5-138362525-C-A c.610G>T p.A204S Missense 6/10 - 1
5-138362525-C-T c.610G>A p.A204T Missense 6/10 - 2
5-138362525-CA-C c.609del p.I203Mfs*29 Frameshift 6/10 - 1
5-138362527-A-AG c.607_608insC p.I203Tfs*6 Frameshift 6/10 - 1
5-138362527-A-G c.608T>C p.I203T Missense 6/10 - 1
5-138362532-C-A c.603G>T p.E201D Missense 6/10 - 2
5-138362532-C-G c.603G>C p.E201D Missense 6/10 - 2
5-138362527-ATCTTC-A c.603_607del p.E201Dfs*6 Frameshift 6/10 - 1
5-138362533-T-C c.602A>G p.E201G Missense 6/10 - 1
5-138362533-T-G c.602A>C p.E201A Missense 6/10 - 1
5-138362534-C-A c.601G>T p.E201* Nonsense 6/10 - 1
5-138362534-C-G c.601G>C p.E201Q Missense 6/10 - 1
5-138362535-T-A c.600A>T p.E200D Missense 6/10 - 1
5-138362535-T-G c.600A>C p.E200D Missense 6/10 - 1
5-138362536-T-C c.599A>G p.E200G Missense 6/10 - 2
5-138362536-T-G c.599A>C p.E200A Missense 6/10 - 1
5-138362538-C-A c.597G>T p.L199F Missense 6/10 - 1
5-138362542-C-A c.593G>T p.S198I Missense 6/10 - 1
5-138362542-C-T c.593G>A p.S198N Missense 6/10 - 1
5-138362548-C-A c.587G>T p.S196I Missense 6/10 - 1
5-138362548-C-T c.587G>A p.S196N Missense 6/10 - 1
5-138362548-CT-AA c.586_587delinsTT p.S196F Missense 6/10 - 1
5-138362548-CT-AG c.586_587inv p.S196L Missense 6/10 - 1
5-138362548-CT-GC c.586_587delinsGC p.S196A Missense 6/10 - 1
5-138362551-G-A c.584C>T p.S195F Missense 6/10 - 1
5-138362552-A-G c.583T>C p.S195P Missense 6/10 - 1
5-138362551-GA-G c.583del p.S195Pfs*37 Frameshift 6/10 - 1
5-138362553-A-T c.582T>A p.S194R Missense 6/10 - 1
5-138362554-C-T c.581G>A p.S194N Missense 6/10 - 1
5-138362554-CT-AA c.580_581delinsTT p.S194F Missense 6/10 - 1
5-138362554-CT-GC c.580_581delinsGC p.S194A Missense 6/10 - 1
5-138362554-C-CT c.580dup p.S194Kfs*15 Frameshift 6/10 - 1
5-138362555-T-A c.580A>T p.S194C Missense 6/10 - 1
5-138362556-ATT-TTA c.577_579delinsTAA p.N193* Nonsense 6/10 - 1
5-138362556-TATTGAACTTG-T c.570_579del p.N190Kfs*39 Frameshift 6/10 - 1
5-138362557-T-C c.578A>G p.N193S Missense 6/10 - 1
5-138362559-G-C c.576C>G p.F192L Missense 6/10 - 2
5-138362560-AA-GC c.574_575delinsGC p.F192A Missense 6/10 - 1
5-138362559-G-T c.576C>A p.F192L Missense 6/10 - 1
5-138362561-A-G c.574T>C p.F192L Missense 6/10 - 1
5-138362563-T-A c.572A>T p.K191M Missense 6/10 - 1
5-138362567-T-G c.568A>C p.N190H Missense 6/10 - 1
5-138362568-G-C c.567C>G p.I189M Missense 6/10 - 1
5-138362570-T-C c.565A>G p.I189V Missense 6/10 - 1
5-138362570-T-G c.565A>C p.I189L Missense 6/10 - 1
5-138362571-C-A c.564G>T p.L188= Synonymous 6/10 - 1
5-138362571-C-G c.564G>C p.L188= Synonymous 6/10 - 1
5-138362571-C-T c.564G>A p.L188= Synonymous 6/10 - 1
5-138362572-A-G c.563T>C p.L188P Missense 6/10 - 1
5-138362572-AG-GC c.562_563delinsGC p.L188A Missense 6/10 - 1
5-138362572-CA-C c.563del p.L188Rfs*44 Frameshift 6/10 - 1
5-138362573-G-A c.562C>T p.L188= Synonymous 6/10 - 2
5-138362574-CC-AT c.560_561delinsAT p.R187H Missense 6/10 - 1
5-138362574-CCG-ACA c.559_561delinsTGT p.R187C Missense 6/10 - 1
5-138362575-C-A c.560G>T p.R187L Missense 6/10 - 2
5-138362575-C-T c.560G>A p.R187Q Missense 6/10 - 2
5-138362576-G-A c.559C>T p.R187W Missense 6/10 - 3
5-138362576-G-C c.559C>G p.R187G Missense 6/10 - 1
5-138362581-A-C c.554T>G p.M185R Missense 6/10 - 1
5-138362585-T-C c.550A>G p.I184V Missense 6/10 - 2
5-138362587-T-G c.548A>C p.Q183P Missense 6/10 - 1
5-138362588-G-T c.547C>A p.Q183K Missense 6/10 - 2
5-138362589-C-A c.546G>T p.M182I Missense 6/10 - 1
5-138362590-A-G c.545T>C p.M182T Missense 6/10 - 1
5-138362591-T-G c.544A>C p.M182L Missense 6/10 - 1
5-138362593-T-C c.542A>G p.D181G Missense 6/10 - 2
5-138362592-GTCAGTCTCAATGACAACA-G c.525_542del p.V176_D181del InFrameDeletion 6/10 - 1
5-138362594-C-T c.541G>A p.D181N Missense 6/10 - 2
5-138362595-AG-CA c.539_540delinsTG p.T180M Missense 6/10 - 1
5-138362595-AG-CT c.539_540inv p.T180K Missense 6/10 - 1
5-138362596-G-A c.539C>T p.T180I Missense 6/10 - 1
5-138362599-T-C c.536A>G p.E179G Missense 6/10 - 5
5-138362600-C-A c.535G>T p.E179* Nonsense 6/10 - 1
5-138362601-A-G c.534T>C p.I178= Synonymous 6/10 - 1
5-138362601-A-T c.534T>A p.I178= Synonymous 6/10 - 1
5-138362602-A-C c.533T>G p.I178S Missense 6/10 - 2
5-138362603-ATGACAACATTCAGCTCATCAAAGT-A c.509_532del p.D170_I178delinsV MultiAAMissense 6/10 - 1
5-138362604-G-A c.531C>T p.V177= Synonymous 6/10 - 1
5-138362604-G-C c.531C>G p.V177= Synonymous 6/10 - 1
5-138362604-G-T c.531C>A p.V177= Synonymous 6/10 - 1
5-138362605-A-G c.530T>C p.V177A Missense 6/10 - 1
5-138362606-C-T c.529G>A p.V177I Missense 6/10 - 1
5-138362609-C-A c.526G>T p.V176F Missense 6/10 - 1
5-138362610-A-T c.525T>A p.N175K Missense 6/10 - 1
5-138362610-ATT-TTG c.523_525delinsCAA p.N175Q Missense 6/10 - 1
5-138362611-T-G c.524A>C p.N175T Missense 6/10 - 1
5-138362613-C-A c.522G>T p.L174= Synonymous 6/10 - 1
5-138362613-CAG-AAA c.520_522delinsTTT p.L174F Missense 6/10 - 1
5-138362613-C-G c.522G>C p.L174= Synonymous 6/10 - 1
5-138362613-C-T c.522G>A p.L174= Synonymous 6/10 - 2
5-138362615-G-A c.520C>T p.L174= Synonymous 6/10 - 1
5-138362614-A-G c.521T>C p.L174P Missense 6/10 - 1
5-138362614-AG-GT c.520_521delinsAC p.L174T Missense 6/10 - 1
5-138362615-G-C c.520C>G p.L174V Missense 6/10 - 3
5-138362616-C-A c.519G>T p.E173D Missense 6/10 - 1
5-138362618-C-A c.517G>T p.E173* Nonsense 6/10 - 1
5-138362618-C-T c.517G>A p.E173K Missense 6/10 - 3
5-138362619-A-C c.516T>G p.D172E Missense 6/10 - 1
5-138362619-A-T c.516T>A p.D172E Missense 6/10 - 1
5-138362621-C-A c.514G>T p.D172Y Missense 6/10 - 2
5-138362621-C-T c.514G>A p.D172N Missense 6/10 - 2
5-138362623-A-G c.512T>C p.F171S Missense 6/10 - 1
5-138362624-A-C c.511T>G p.F171V Missense 6/10 - 1
5-138362626-TC-CA c.508_509delinsTG p.D170C Missense 6/10 - 1
5-138362626-T-G c.509A>C p.D170A Missense 6/10 - 1
5-138362627-C-A c.508G>T p.D170Y Missense 6/10 - 1
5-138362627-C-T c.508G>A p.D170N Missense 6/10 - 1
5-138362630-T-C c.505A>G p.K169E Missense 6/10 - 1
5-138362632-T-C c.503A>G p.K168R Missense 6/10 - 1
5-138362633-T-A c.502A>T p.K168* Nonsense 6/10 - 1
5-138362634-C-A c.501G>T p.L167= Synonymous 6/10 - 1
5-138362634-CAG-GAT c.499_501delinsATC p.L167I Missense 6/10 - 1
5-138362634-C-G c.501G>C p.L167= Synonymous 6/10 - 2
5-138362634-C-T c.501G>A p.L167= Synonymous 6/10 - 1
5-138362635-A-C c.500T>G p.L167R Missense 6/10 - 1
5-138362636-G-A c.499C>T p.L167= Synonymous 6/10 - 3
5-138362636-G-T c.499C>A p.L167M Missense 6/10 - 1
5-138362636-GT-G c.498del p.E166Dfs*2 Frameshift 6/10 - 1
5-138362638-T-G c.497A>C p.E166A Missense 6/10 - 1
5-138362641-T-TC c.493dup p.E165Gfs*8 Frameshift 6/10 - 1
5-138362641-T-TCGTGACTG c.493_494insCAGTCACG p.E165Afs*6 Frameshift 6/10 - 1
5-138362642-C-G c.493G>C p.E165Q Missense 6/10 - 1
5-138362642-C-T c.493G>A p.E165K Missense 6/10 - 1
5-138362644-AATGG-A c.488_491del p.P163Lfs*4 Frameshift 6/10 - 2
5-138362644-A-G c.491T>C p.I164T Missense 6/10 - 1
5-138362645-T-A c.490A>T p.I164F Missense 6/10 - 1
5-138362646-G-A c.489C>T p.P163= Synonymous 6/10 - 1
5-138362647-G-A c.488C>T p.P163L Missense 6/10 - 3
5-138362648-G-A c.487C>T p.P163S Missense 6/10 - 1
5-138362649-GCG-CCA c.484_486delinsTGG p.R162W Missense 6/10 - 2
5-138362649-GCG-CTC c.484_486delinsGAG p.R162E Missense 6/10 - 1
5-138362649-GC-TT c.485_486delinsAA p.R162Q Missense 6/10 - 2
5-138362650-C-T c.485G>A p.R162H Missense 6/10 - 4
5-138362651-G-A c.484C>T p.R162C Missense 6/10 - 3
5-138362651-G-C c.484C>G p.R162G Missense 6/10 - 1
5-138362652-G-T c.483C>A p.F161L Missense 6/10 - 2
5-138362652-G-C c.483C>G p.F161L Missense 6/10 - 1
5-138362654-A-G c.481T>C p.F161L Missense 6/10 - 1
5-138362657-G-A c.478C>T p.L160F Missense 6/10 - 1
5-138362658-CC-AT c.476_477delinsAT p.R159H Missense 6/10 - 1
5-138362659-CG-TA c.475_476delinsTA p.R159* Nonsense 6/10 - 1
5-138362659-C-T c.476G>A p.R159Q Missense 6/10 - 2
5-138362660-G-A c.475C>T p.R159W Missense 6/10 - 1
5-138362660-G-T c.475C>A p.R159= Synonymous 6/10 - 1
5-138362662-T-C c.473A>G p.K158R Missense 6/10 - 1
5-138362664-TAC-AAA c.469_471delinsTTT p.V157F Missense 6/10 - 2
5-138362664-TAC-CAT c.469_471delinsATG p.V157M Missense 6/10 - 1
5-138362665-A-G c.470T>C p.V157A Missense 6/10 - 1
5-138362666-ACCTCAGCC-A c.462_469del p.Q154Hfs*9 Frameshift 6/10 - 1
5-138362666-C-A c.469G>T p.V157L Missense 6/10 - 1
5-138362665-A-AC c.469dup p.V157Gfs*9 Frameshift 6/10 - 1
5-138362667-C-A c.468G>T p.E156D Missense 6/10 - 1
5-138362667-C-G c.468G>C p.E156D Missense 6/10 - 1
5-138362667-C-T c.468G>A p.E156= Synonymous 6/10 - 2
5-138362669-C-T c.466G>A p.E156K Missense 6/10 - 2
5-138362670-A-C c.465T>G p.A155= Synonymous 6/10 - 1
5-138362670-A-G c.465T>C p.A155= Synonymous 6/10 - 1
5-138362670-A-T c.465T>A p.A155= Synonymous 6/10 - 1
5-138362671-G-A c.464C>T p.A155V Missense 6/10 - 1
5-138362671-G-C c.464C>G p.A155G Missense 6/10 - 1
5-138362672-C-T c.463G>A p.A155T Missense 6/10 - 1
5-138362675-G-A c.460C>T p.Q154* Nonsense 6/10 - 2
5-138362676-C-A c.459G>T p.R153S Missense 6/10 - 1
5-138362676-CC-GA c.458_459delinsTC p.R153I Missense 6/10 - 1
5-138362676-CCT-ACA c.457_459delinsTGT p.R153C Missense 6/10 - 1
5-138362676-CCT-ATG c.457_459delinsCAT p.R153H Missense 6/10 - 1
5-138362676-C-G c.459G>C p.R153S Missense 6/10 - 1
5-138362677-C-A c.458G>T p.R153M Missense 6/10 - 1
5-138362677-C-T c.458G>A p.R153K Missense 6/10 - 1
5-138362677-CT-TG c.457_458delinsCA p.R153Q Missense 6/10 - 1
5-138362679-T-TG c.455dup p.R153Kfs*4 SpliceAcceptorInsertion 6/10 - 1
5-138362681-C-T c.454G>A p.A152T Missense 6/10 - 2
5-138362687-G-A c.454-6C>T - IntronicSNV - 5/9 1
5-138362687-G-C c.454-6C>G - IntronicSNV - 5/9 1
5-138362689-G-A c.454-8C>T - IntronicSNV - 5/9 1
5-138363218-A-G c.454-537T>C - IntronicSNV - 5/9 1
5-138364394-T-C c.454-1713A>G - IntronicSNV - 5/9 1
5-138371116-G-A c.453+7193C>T - IntronicSNV - 5/9 1
5-138371116-G-C c.453+7193C>G - IntronicSNV - 5/9 1
5-138371365-C-A c.453+6944G>T - IntronicSNV - 5/9 1
5-138371365-C-G c.453+6944G>C - IntronicSNV - 5/9 1
5-138376180-C-T c.453+2129G>A - IntronicSNV - 5/9 1
5-138377592-AG-A c.453+717del - IntronicDeletion - 5/9 1
5-138377613-TG-T c.453+696del - IntronicDeletion - 5/9 1
5-138378308-C-A c.453+1G>T - IntronicSNV - 5/9 1
5-138378311-T-C c.451A>G p.K151E Missense 5/10 - 1
5-138378313-T-C c.449A>G p.D150G Missense 5/10 - 1
5-138378313-T-G c.449A>C p.D150A Missense 5/10 - 1
5-138378314-C-T c.448G>A p.D150N Missense 5/10 - 1
5-138378317-C-A c.445G>T p.E149* Nonsense 5/10 - 1
5-138378317-C-T c.445G>A p.E149K Missense 5/10 - 1
5-138378318-C-T c.444G>A p.K148= Synonymous 5/10 - 1
5-138378319-T-A c.443A>T p.K148M Missense 5/10 - 1
5-138378319-T-C c.443A>G p.K148R Missense 5/10 - 1
5-138378321-T-A c.441A>T p.S147= Synonymous 5/10 - 1
5-138378321-T-C c.441A>G p.S147= Synonymous 5/10 - 1
5-138378321-T-G c.441A>C p.S147= Synonymous 5/10 - 1
5-138378321-TG-AC c.440_441delinsGT p.S147C Missense 5/10 - 1
5-138378321-TGA-GTT c.439_441delinsAAC p.S147N Missense 5/10 - 1
5-138378322-G-A c.440C>T p.S147L Missense 5/10 - 3
5-138378322-G-T c.440C>A p.S147* Nonsense 5/10 - 1
5-138378323-A-C c.439T>G p.S147A Missense 5/10 - 1
5-138378323-GAACTCTCCATCTC-G c.427_439del p.E143Qfs*11 Frameshift 5/10 - 1
5-138378324-A-C c.438T>G p.S146R Missense 5/10 - 1
5-138378325-C-G c.437G>C p.S146T Missense 5/10 - 1
5-138378325-CT-AG c.436_437inv p.S146L Missense 5/10 - 1
5-138378327-C-A c.435G>T p.E145D Missense 5/10 - 1
5-138378327-C-CA c.434_435insT p.E145Dfs*12 Frameshift 5/10 - 1
5-138378327-C-G c.435G>C p.E145D Missense 5/10 - 1
5-138378324-ACT-A c.436_437del p.S146Ffs*10 Frameshift 5/10 - 1
5-138378328-T-G c.434A>C p.E145A Missense 5/10 - 1
5-138378329-C-G c.433G>C p.E145Q Missense 5/10 - 1
5-138378329-C-T c.433G>A p.E145K Missense 5/10 - 3
5-138378332-T-C c.430A>G p.M144V Missense 5/10 - 1
5-138378333-C-A c.429G>T p.E143D Missense 5/10 - 1
5-138378333-C-G c.429G>C p.E143D Missense 5/10 - 1
5-138378335-C-A c.427G>T p.E143* Nonsense 5/10 - 1
5-138378335-C-T c.427G>A p.E143K Missense 5/10 - 2
5-138378337-G-A c.425C>T p.A142V Missense 5/10 - 1
5-138378337-G-T c.425C>A p.A142E Missense 5/10 - 1
5-138378338-C-G c.424G>C p.A142P Missense 5/10 - 1
5-138378339-CCC-GCT c.421_423delinsAGC p.G141S Missense 5/10 - 2
5-138378340-C-G c.422G>C p.G141A Missense 5/10 - 1
5-138378340-C-T c.422G>A p.G141E Missense 5/10 - 2
5-138378341-C-A c.421G>T p.G141W Missense 5/10 - 1
5-138378342-C-A c.420G>T p.E140D Missense 5/10 - 1
5-138378344-C-T c.418G>A p.E140K Missense 5/10 - 1
5-138378345-C-A c.417G>T p.K139N Missense 5/10 - 1
5-138378345-C-G c.417G>C p.K139N Missense 5/10 - 1
5-138378347-T-C c.415A>G p.K139E Missense 5/10 - 1
5-138378348-G-A c.414C>T p.F138= Synonymous 5/10 - 3
5-138378350-A-C c.412T>G p.F138V Missense 5/10 - 1
5-138378351-T-C c.411A>G p.K137= Synonymous 5/10 - 1
5-138378352-T-G c.410A>C p.K137T Missense 5/10 - 1
5-138378352-TT-GC c.409_410delinsGC p.K137A Missense 5/10 - 1
5-138378350-A-AT c.411dup p.F138Ifs*19 Frameshift 5/10 - 1
5-138378354-T-C c.408A>G p.A136= Synonymous 5/10 - 1
5-138378355-G-A c.407C>T p.A136V Missense 5/10 - 3
5-138378356-C-T c.406G>A p.A136T Missense 5/10 - 2
5-138378358-A-C c.404T>G p.L135R Missense 5/10 - 1
5-138378359-G-A c.403C>T p.L135= Synonymous 5/10 - 1
5-138378361-G-A c.401C>T p.A134V Missense 5/10 - 1
5-138378362-C-A c.400G>T p.A134S Missense 5/10 - 1
5-138378362-C-G c.400G>C p.A134P Missense 5/10 - 2
5-138378362-C-T c.400G>A p.A134T Missense 5/10 - 2
5-138378364-C-A c.398G>T p.S133I Missense 5/10 - 1
5-138378364-CT-AG c.397_398inv p.S133L Missense 5/10 - 1
5-138378365-T-A c.397A>T p.S133C Missense 5/10 - 1
5-138378366-C-A c.396G>T p.K132N Missense 5/10 - 1
5-138378366-C-G c.396G>C p.K132N Missense 5/10 - 1
5-138378367-T-C c.395A>G p.K132R Missense 5/10 - 5
5-138378367-TT-GC c.394_395delinsGC p.K132A Missense 5/10 - 1
5-138378368-T-A c.394A>T p.K132* Nonsense 5/10 - 1
5-138378368-T-G c.394A>C p.K132Q Missense 5/10 - 4
5-138378368-T-TA c.393_394insT p.K132* Nonsense 5/10 - 1
5-138378371-G-T c.391C>A p.L131I Missense 5/10 - 1
5-138378372-A-AT c.389dup p.D130Efs*27 Frameshift 5/10 - 1
5-138378373-T-C c.389A>G p.D130G Missense 5/10 - 1
5-138378376-T-C c.386A>G p.Q129R Missense 5/10 - 1
5-138378377-G-A c.385C>T p.Q129* Nonsense 5/10 - 1
5-138378378-A-C c.384T>G p.S128= Synonymous 5/10 - 1
5-138378379-GA-CC c.382_383delinsGG p.S128G Missense 5/10 - 1
5-138378379-GA-TT c.382_383delinsAA p.S128N Missense 5/10 - 2
5-138378379-G-T c.383C>A p.S128Y Missense 5/10 - 1
5-138378380-A-G c.382T>C p.S128P Missense 5/10 - 2
5-138378382-G-A c.380C>T p.T127I Missense 5/10 - 1
5-138378382-G-T c.380C>A p.T127K Missense 5/10 - 1
5-138378384-G-C c.378C>G p.Y126* Nonsense 5/10 - 2
5-138378384-G-T c.378C>A p.Y126* Nonsense 5/10 - 3
5-138378385-T-A c.377A>T p.Y126F Missense 5/10 - 1
5-138378387-G-A c.375C>T p.T125= Synonymous 5/10 - 1
5-138378387-G-C c.375C>G p.T125= Synonymous 5/10 - 1
5-138378387-GG-CA c.374_375delinsTG p.T125M Missense 5/10 - 3
5-138378387-GGT-TTA c.373_375delinsTAA p.T125* Nonsense 5/10 - 1
5-138378387-G-T c.375C>A p.T125= Synonymous 5/10 - 3
5-138378388-G-T c.374C>A p.T125N Missense 5/10 - 1
5-138378388-GT-CA c.373_374delinsTG p.T125C Missense 5/10 - 1
5-138378388-G-GT c.373dup p.T125Nfs*32 Frameshift 5/10 - 1
5-138378389-T-G c.373A>C p.T125P Missense 5/10 - 1
5-138378390-G-A c.372C>T p.N124= Synonymous 5/10 - 1
5-138378391-T-A c.371A>T p.N124I Missense 5/10 - 1
5-138378394-G-A c.368C>T p.T123I Missense 5/10 - 8
5-138378395-T-C c.367A>G p.T123A Missense 5/10 - 2
5-138378397-T-C c.365A>G p.N122S Missense 5/10 - 1
5-138378398-T-C c.364A>G p.N122D Missense 5/10 - 1
5-138378401-T-C c.361A>G p.I121V Missense 5/10 - 1
5-138378402-A-G c.360T>C p.D120= Synonymous 5/10 - 2
5-138378403-T-C c.359A>G p.D120G Missense 5/10 - 1
5-138378404-C-T c.358G>A p.D120N Missense 5/10 - 1
5-138378407-G-A c.355C>T p.L119= Synonymous 5/10 - 2
5-138382835-G-A c.353+3792C>T - IntronicSNV - 4/9 1
5-138384042-CT-C c.353+2584del - IntronicDeletion - 4/9 1
5-138386626-C-A c.353+1G>T - IntronicSNV - 4/9 1
5-138386626-C-T c.353+1G>A - IntronicSNV - 4/9 1
5-138386627-C-T c.353G>A p.R118K Missense 4/10 - 3
5-138386627-CT-TA c.352_353delinsTA p.R118* Nonsense 4/10 - 2
5-138386627-CT-TG c.352_353delinsCA p.R118Q Missense 4/10 - 4
5-138386628-T-A c.352A>T p.R118W Missense 4/10 - 3
5-138386628-T-C c.352A>G p.R118G Missense 4/10 - 7
5-138386629-T-A c.351A>T p.K117N Missense 4/10 - 3
5-138386629-T-G c.351A>C p.K117N Missense 4/10 - 3
5-138386630-T-C c.350A>G p.K117R Missense 4/10 - 1
5-138386630-T-TG c.349_350insC p.K117Tfs*40 Frameshift 4/10 - 1
5-138386631-T-C c.349A>G p.K117E Missense 4/10 - 2
5-138386632-G-T c.348C>A p.G116= Synonymous 4/10 - 1
5-138386633-C-A c.347G>T p.G116V Missense 4/10 - 1
5-138386633-C-G c.347G>C p.G116A Missense 4/10 - 1
5-138386633-C-T c.347G>A p.G116D Missense 4/10 - 2
5-138386635-T-A c.345A>T p.K115N Missense 4/10 - 2
5-138386635-T-G c.345A>C p.K115N Missense 4/10 - 2
5-138386639-AA-CT c.340_341delinsAG p.L114R Missense 4/10 - 1
5-138386640-A-AG c.339_340insC p.K115Efs*42 Frameshift 4/10 - 1
5-138386640-A-C c.340T>G p.L114V Missense 4/10 - 1
5-138386642-T-A c.338A>T p.N113I Missense 4/10 - 1
5-138386642-T-C c.338A>G p.N113S Missense 4/10 - 1
5-138386646-TTTC-T c.332_334del p.R111_N112delinsH MultiAAMissense 4/10 - 1
5-138386647-TC-AT c.332_333delinsAT p.R111H Missense 4/10 - 1
5-138386647-TCG-ACA c.331_333delinsTGT p.R111C Missense 4/10 - 1
5-138386647-TCG-CCA c.331_333delinsTGG p.R111W Missense 4/10 - 1
5-138386648-C-A c.332G>T p.R111L Missense 4/10 - 3
5-138386648-C-T c.332G>A p.R111Q Missense 4/10 - 8
5-138386646-TTCGGAACTTGTCC-T c.321_333del p.D108Ifs*3 Frameshift 4/10 - 1
5-138386649-G-A c.331C>T p.R111* Nonsense 4/10 - 3
5-138386649-G-C c.331C>G p.R111G Missense 4/10 - 1
5-138386650-G-A c.330C>T p.F110= Synonymous 4/10 - 1
5-138386651-AA-GC c.328_329delinsGC p.F110A Missense 4/10 - 1
5-138386651-A-AT c.328_329insA p.F110Yfs*4 Frameshift 4/10 - 1
5-138386651-A-G c.329T>C p.F110S Missense 4/10 - 1
5-138386650-G-C c.330C>G p.F110L Missense 4/10 - 1
5-138386650-G-T c.330C>A p.F110L Missense 4/10 - 1
5-138386652-A-C c.328T>G p.F110V Missense 4/10 - 1
5-138386652-A-G c.328T>C p.F110L Missense 4/10 - 1
5-138386654-T-C c.326A>G p.K109R Missense 4/10 - 2
5-138386657-T-C c.323A>G p.D108G Missense 4/10 - 2
5-138386658-C-T c.322G>A p.D108N Missense 4/10 - 1
5-138386657-TC-T c.322del p.D108Tfs*7 Frameshift 4/10 - 1
5-138386659-C-A c.321G>T p.E107D Missense 4/10 - 1
5-138386659-C-G c.321G>C p.E107D Missense 4/10 - 1
5-138386661-C-T c.319G>A p.E107K Missense 4/10 - 1
5-138386662-CATATTGGAGTT-C c.308_318del p.K103Rfs*7 Frameshift 4/10 - 1
5-138386663-T-C c.317A>G p.Y106C Missense 4/10 - 1
5-138386664-A-C c.316T>G p.Y106D Missense 4/10 - 2
5-138386665-T-A c.315A>T p.Q105H Missense 4/10 - 1
5-138386665-T-G c.315A>C p.Q105H Missense 4/10 - 1
5-138386667-G-A c.313C>T p.Q105* Nonsense 4/10 - 1
5-138386667-G-T c.313C>A p.Q105K Missense 4/10 - 1
5-138386668-G-T c.312C>A p.L104= Synonymous 4/10 - 2
5-138386669-A-C c.311T>G p.L104R Missense 4/10 - 1
5-138386670-G-C c.310C>G p.L104V Missense 4/10 - 1
5-138386670-G-T c.310C>A p.L104I Missense 4/10 - 1
5-138386671-T-A c.309A>T p.K103N Missense 4/10 - 6
5-138386671-T-G c.309A>C p.K103N Missense 4/10 - 6
5-138386671-TT-CA c.308_309delinsTG p.K103M Missense 4/10 - 1
5-138386672-T-A c.308A>T p.K103I Missense 4/10 - 1
5-138386673-T-A c.307A>T p.K103* Nonsense 4/10 - 2
5-138386673-T-G c.307A>C p.K103Q Missense 4/10 - 1
5-138386674-T-G c.306A>C p.A102= Synonymous 4/10 - 1
5-138386675-G-T c.305C>A p.A102E Missense 4/10 - 1
5-138386676-C-A c.304G>T p.A102S Missense 4/10 - 1
5-138386676-C-T c.304G>A p.A102T Missense 4/10 - 1
5-138386679-C-A c.301G>T p.E101* Nonsense 4/10 - 1
5-138386679-C-CA c.300_301insT p.E101* Nonsense 4/10 - 1
5-138386679-C-T c.301G>A p.E101K Missense 4/10 - 2
5-138386680-TCT-ATG c.298_300delinsCAT p.R100H Missense 4/10 - 2
5-138386681-C-A c.299G>T p.R100I Missense 4/10 - 1
5-138386681-C-G c.299G>C p.R100T Missense 4/10 - 3
5-138386681-CT-TC c.298_299delinsGA p.R100E Missense 4/10 - 1
5-138386682-T-C c.298A>G p.R100G Missense 4/10 - 1
5-138386684-T-A c.296A>T p.E99V Missense 4/10 - 1
5-138386685-C-A c.295G>T p.E99* Nonsense 4/10 - 1
5-138386685-C-T c.295G>A p.E99K Missense 4/10 - 2
5-138386686-CCC-GCT c.292_294delinsAGC p.G98S Missense 4/10 - 1
5-138386687-C-T c.293G>A p.G98E Missense 4/10 - 2
5-138386688-C-CTA c.291_292insTA p.G98* Nonsense 4/10 - 1
5-138386688-C-G c.292G>C p.G98R Missense 4/10 - 1
5-138386688-C-T c.292G>A p.G98R Missense 4/10 - 1
5-138386689-AG-CA c.290_291delinsTG p.T97M Missense 4/10 - 1
5-138386690-G-A c.290C>T p.T97I Missense 4/10 - 1
5-138386691-T-G c.289A>C p.T97P Missense 4/10 - 2
5-138386692-C-A c.288G>T p.Q96H Missense 4/10 - 2
5-138386692-C-G c.288G>C p.Q96H Missense 4/10 - 1
5-138386694-G-A c.286C>T p.Q96* Nonsense 4/10 - 3
5-138386694-G-T c.286C>A p.Q96K Missense 4/10 - 1
5-138386695-A-C c.285T>G p.L95= Synonymous 4/10 - 1
5-138386696-A-C c.284T>G p.L95R Missense 4/10 - 1
5-138386697-G-A c.283C>T p.L95F Missense 4/10 - 2
5-138386699-T-C c.281A>G p.N94S Missense 4/10 - 1
5-138386701-C-A c.279G>T p.L93= Synonymous 4/10 - 1
5-138386701-C-T c.279G>A p.L93= Synonymous 4/10 - 2
5-138386701-TCAGCCGTACGTGGGATCCTGCAG-T c.257_279del p.P86Qfs*14 Frameshift 4/10 - 1
5-138386701-TC-T c.279del p.N94Ifs*21 Frameshift 4/10 - 1
5-138386702-A-G c.278T>C p.L93P Missense 4/10 - 1
5-138386703-G-C c.277C>G p.L93V Missense 4/10 - 1
5-138386704-CC-AT c.275_276delinsAT p.R92H Missense 4/10 - 1
5-138386704-CCG-ACA c.274_276delinsTGT p.R92C Missense 4/10 - 3
5-138386705-C-A c.275G>T p.R92L Missense 4/10 - 1
5-138386705-C-T c.275G>A p.R92Q Missense 4/10 - 2
5-138386706-G-A c.274C>T p.R92W Missense 4/10 - 7
5-138386706-G-C c.274C>G p.R92G Missense 4/10 - 1
5-138386707-TAC-AAA c.271_273delinsTTT p.V91F Missense 4/10 - 1
5-138386708-A-G c.272T>C p.V91A Missense 4/10 - 2
5-138386709-C-T c.271G>A p.V91I Missense 4/10 - 1
5-138386710-G-T c.270C>A p.H90Q Missense 4/10 - 2
5-138386711-T-C c.269A>G p.H90R Missense 4/10 - 1
5-138386712-G-GT c.267_268insA p.H90Tfs*18 Frameshift 4/10 - 1
5-138386714-G-A c.266C>T p.S89F Missense 4/10 - 1
5-138386715-A-G c.265T>C p.S89P Missense 4/10 - 1
5-138386715-A-T c.265T>A p.S89T Missense 4/10 - 1
5-138386716-TCC-GCT c.262_264delinsAGC p.G88S Missense 4/10 - 1
5-138386717-C-T c.263G>A p.G88E Missense 4/10 - 1
5-138386718-C-G c.262G>C p.G88R Missense 4/10 - 1
5-138386718-C-T c.262G>A p.G88R Missense 4/10 - 3
5-138386719-T-A c.261A>T p.A87= Synonymous 4/10 - 1
5-138386719-T-C c.261A>G p.A87= Synonymous 4/10 - 1
5-138386719-T-G c.261A>C p.A87= Synonymous 4/10 - 1
5-138386719-TGC-AAA c.259_261delinsTTT p.A87F Missense 4/10 - 2
5-138386719-TGC-ACA c.259_261delinsTGT p.A87C Missense 4/10 - 4
5-138386719-TGC-ATA c.259_261delinsTAT p.A87Y Missense 4/10 - 5
5-138386719-TGC-ATG c.259_261delinsCAT p.A87H Missense 4/10 - 4
5-138386719-TGC-CCA c.259_261delinsTGG p.A87W Missense 4/10 - 5
5-138386719-TGC-GTT c.259_261delinsAAC p.A87N Missense 4/10 - 4
5-138386719-TG-GT c.260_261delinsAC p.A87D Missense 4/10 - 6
5-138386720-G-A c.260C>T p.A87V Missense 4/10 - 3
5-138386720-G-C c.260C>G p.A87G Missense 4/10 - 1
5-138386720-GC-TG c.259_260delinsCA p.A87Q Missense 4/10 - 4
5-138386720-GC-TT c.259_260delinsAA p.A87K Missense 4/10 - 3
5-138386720-G-T c.260C>A p.A87E Missense 4/10 - 6
5-138386721-C-A c.259G>T p.A87S Missense 4/10 - 1
5-138386721-C-T c.259G>A p.A87T Missense 4/10 - 6
5-138386721-CAGGG-C c.255_258del p.P86Qfs*7 Frameshift 4/10 - 1
5-138386723-G-A c.257C>T p.P86L Missense 4/10 - 1
5-138386725-G-A c.255C>T p.V85= Synonymous 4/10 - 1
5-138386726-A-C c.254T>G p.V85G Missense 4/10 - 2
5-138386726-A-G c.254T>C p.V85A Missense 4/10 - 1
5-138386727-AC-A c.253del p.V85Sfs*9 Frameshift 4/10 - 1
5-138386727-C-T c.253G>A p.V85I Missense 4/10 - 2
5-138386726-ACAG-A c.251_253del p.A84del InFrameDeletion 4/10 - 1
5-138386728-A-C c.252T>G p.A84= Synonymous 4/10 - 2
5-138386728-A-G c.252T>C p.A84= Synonymous 4/10 - 1
5-138386728-AGC-CAT c.250_252delinsATG p.A84M Missense 4/10 - 3
5-138386728-AGC-CCA c.250_252delinsTGG p.A84W Missense 4/10 - 3
5-138386728-AG-CT c.251_252inv p.A84E Missense 4/10 - 1
5-138386728-AGC-TTA c.250_252delinsTAA p.A84* Nonsense 4/10 - 3
5-138386728-AGC-TTG c.250_252delinsCAA p.A84Q Missense 4/10 - 3
5-138386728-A-T c.252T>A p.A84= Synonymous 4/10 - 1
5-138386729-G-C c.251C>G p.A84G Missense 4/10 - 3
5-138386729-GC-AA c.250_251delinsTT p.A84F Missense 4/10 - 3
5-138386729-GC-AG c.250_251delinsCT p.A84L Missense 4/10 - 3
5-138386729-GC-AT c.250_251delinsAT p.A84I Missense 4/10 - 3
5-138386729-GC-CA c.250_251delinsTG p.A84C Missense 4/10 - 3
5-138386729-GC-CG c.250_251delinsCG p.A84R Missense 4/10 - 3
5-138386729-GC-TA c.250_251delinsTA p.A84Y Missense 4/10 - 3
5-138386729-GC-TG c.250_251delinsCA p.A84H Missense 4/10 - 3
5-138386729-G-T c.251C>A p.A84D Missense 4/10 - 1
5-138386730-C-A c.250G>T p.A84S Missense 4/10 - 4
5-138386730-C-G c.250G>C p.A84P Missense 4/10 - 1
5-138386730-C-T c.250G>A p.A84T Missense 4/10 - 3
5-138386731-C-A c.249G>T p.Q83H Missense 4/10 - 1
5-138386731-C-G c.249G>C p.Q83H Missense 4/10 - 1
5-138386732-T-C c.248A>G p.Q83R Missense 4/10 - 1
5-138386733-G-T c.247C>A p.Q83K Missense 4/10 - 1
5-138386733-TGCC-T c.245_247del p.G82_Q83delinsE SpliceAcceptorDeletion 4/10 - 1
5-138386735-C-T c.245G>A p.G82E Missense 4/10 - 1
5-138386859-C-A c.245-124G>T - IntronicSNV - 3/9 3
5-138386859-C-G c.245-124G>C - IntronicSNV - 3/9 3
5-138386859-C-T c.245-124G>A - IntronicSNV - 3/9 3
5-138391399-T-A c.245-4664A>T - IntronicSNV - 3/9 1
5-138391399-T-C c.245-4664A>G - IntronicSNV - 3/9 1
5-138397289-G-A c.245-10554C>T - IntronicSNV - 3/9 1
5-138397289-G-C c.245-10554C>G - IntronicSNV - 3/9 1
5-138414180-G-A c.245-27445C>T - IntronicSNV - 3/9 1
5-138441258-A-G c.244+15466T>C - IntronicSNV - 3/9 1
5-138441305-C-T c.244+15419G>A - IntronicSNV - 3/9 1
5-138441601-C-T c.244+15123G>A - IntronicSNV - 3/9 1
5-138441621-G-T c.244+15103C>A - IntronicSNV - 3/9 1
5-138441650-G-A c.244+15074C>T - IntronicSNV - 3/9 1
5-138441650-G-C c.244+15074C>G - IntronicSNV - 3/9 1
5-138441677-A-G c.244+15047T>C - IntronicSNV - 3/9 1
5-138442555-C-T c.244+14169G>A - IntronicSNV - 3/9 1
5-138443150-C-T c.244+13574G>A - IntronicSNV - 3/9 1
5-138444170-G-A c.244+12554C>T - IntronicSNV - 3/9 1
5-138456724-C-G c.244G>C p.G82R Missense 3/10 - 1
5-138456724-C-T c.244G>A p.G82R Missense 3/10 - 2
5-138456723-CCTGGCTGAAGGGCCTGCCA-C c.226_244del p.W76Gfs*12 SpliceDonorDeletion 3/10 - 1
5-138456726-G-A c.242C>T p.P81L Missense 3/10 - 2
5-138456726-G-T c.242C>A p.P81Q Missense 3/10 - 1
5-138456727-G-A c.241C>T p.P81S Missense 3/10 - 1
5-138456727-G-C c.241C>G p.P81A Missense 3/10 - 1
5-138456728-C-A c.240G>T p.Q80H Missense 3/10 - 1
5-138456728-C-G c.240G>C p.Q80H Missense 3/10 - 1
5-138456728-C-T c.240G>A p.Q80= Synonymous 3/10 - 1
5-138456729-T-C c.239A>G p.Q80R Missense 3/10 - 4
5-138456730-G-T c.238C>A p.Q80K Missense 3/10 - 1
5-138456733-G-A c.235C>T p.L79F Missense 3/10 - 1
5-138456733-G-T c.235C>A p.L79I Missense 3/10 - 1
5-138456734-G-A c.234C>T p.A78= Synonymous 3/10 - 5
5-138456734-G-C c.234C>G p.A78= Synonymous 3/10 - 2
5-138456734-GGC-CAT c.232_234delinsATG p.A78M Missense 3/10 - 4
5-138456734-GGC-CTT c.232_234delinsAAG p.A78K Missense 3/10 - 4
5-138456734-GG-CT c.233_234delinsAG p.A78E Missense 3/10 - 1
5-138456734-G-T c.234C>A p.A78= Synonymous 3/10 - 2
5-138456735-G-A c.233C>T p.A78V Missense 3/10 - 2
5-138456735-G-C c.233C>G p.A78G Missense 3/10 - 1
5-138456735-GC-AG c.232_233delinsCT p.A78L Missense 3/10 - 5
5-138456735-GC-CG c.232_233delinsCG p.A78R Missense 3/10 - 2
5-138456735-GC-TT c.232_233delinsAA p.A78N Missense 3/10 - 4
5-138456736-C-G c.232G>C p.A78P Missense 3/10 - 4
5-138456736-C-T c.232G>A p.A78T Missense 3/10 - 5
5-138456737-C-A c.231G>T p.Q77H Missense 3/10 - 2
5-138456738-T-C c.230A>G p.Q77R Missense 3/10 - 1
5-138456739-G-A c.229C>T p.Q77* Nonsense 3/10 - 1
5-138456741-C-A c.227G>T p.W76L Missense 3/10 - 1
5-138456741-C-T c.227G>A p.W76* Nonsense 3/10 - 1
5-138456742-A-C c.226T>G p.W76G Missense 3/10 - 2
5-138456742-A-G c.226T>C p.W76R Missense 3/10 - 4
5-138456742-A-T c.226T>A p.W76R Missense 3/10 - 2
5-138456743-C-A c.225G>T p.E75D Missense 3/10 - 1
5-138456743-C-G c.225G>C p.E75D Missense 3/10 - 1
5-138456745-C-A c.223G>T p.E75* Nonsense 3/10 - 1
5-138456745-C-T c.223G>A p.E75K Missense 3/10 - 1
5-138456748-G-A c.220C>T p.H74Y Missense 3/10 - 1
5-138456748-G-T c.220C>A p.H74N Missense 3/10 - 1
5-138456749-C-T c.219G>A p.T73= Synonymous 3/10 - 1
5-138456750-G-A c.218C>T p.T73M Missense 3/10 - 2
5-138456751-T-G c.217A>C p.T73P Missense 3/10 - 1
5-138456752-C-A c.216G>T p.P72= Synonymous 3/10 - 1
5-138456752-C-G c.216G>C p.P72= Synonymous 3/10 - 1
5-138456752-C-T c.216G>A p.P72= Synonymous 3/10 - 1
5-138456753-G-A c.215C>T p.P72L Missense 3/10 - 2
5-138456753-G-C c.215C>G p.P72R Missense 3/10 - 2
5-138456752-CG-C c.215del p.P72Rfs*22 Frameshift 3/10 - 1
5-138456756-T-C c.212A>G p.H71R Missense 3/10 - 1
5-138456757-G-A c.211C>T p.H71Y Missense 3/10 - 2
5-138456757-G-T c.211C>A p.H71N Missense 3/10 - 1
5-138456759-A-C c.209T>G p.F70C Missense 3/10 - 1
5-138456758-G-C c.210C>G p.F70L Missense 3/10 - 1
5-138456758-G-T c.210C>A p.F70L Missense 3/10 - 1
5-138456760-A-G c.208T>C p.F70L Missense 3/10 - 1
5-138456761-AC-A c.207del p.F70Sfs*24 Frameshift 3/10 - 1
5-138456761-C-A c.207G>T p.V69= Synonymous 3/10 - 1
5-138456761-CAC-GAT c.205_207delinsATC p.V69I Missense 3/10 - 1
5-138456761-CAC-GTT c.205_207delinsAAC p.V69N Missense 3/10 - 1
5-138456761-C-T c.207G>A p.V69= Synonymous 3/10 - 1
5-138456762-A-C c.206T>G p.V69G Missense 3/10 - 1
5-138456763-C-A c.205G>T p.V69L Missense 3/10 - 1
5-138456763-C-T c.205G>A p.V69M Missense 3/10 - 3
5-138456764-C-A c.204G>T p.E68D Missense 3/10 - 2
5-138456764-C-G c.204G>C p.E68D Missense 3/10 - 2
5-138456766-C-A c.202G>T p.E68* Nonsense 3/10 - 1
5-138456766-C-G c.202G>C p.E68Q Missense 3/10 - 1
5-138456766-C-T c.202G>A p.E68K Missense 3/10 - 3
5-138456767-CA-AT c.200_201delinsAT p.L67H Missense 3/10 - 1
5-138456768-CAGGACTTCGGCATCCAGCT-C c.182_200del p.E61Gfs*27 Frameshift 3/10 - 1
5-138456770-GAC-CAT c.196_198delinsATG p.V66M Missense 3/10 - 3
5-138456771-AC-TT c.196_197delinsAA p.V66N Missense 3/10 - 1
5-138456772-C-G c.196G>C p.V66L Missense 3/10 - 1
5-138456772-C-T c.196G>A p.V66I Missense 3/10 - 1
5-138456775-C-A c.193G>T p.E65* Nonsense 3/10 - 1
5-138456775-C-T c.193G>A p.E65K Missense 3/10 - 1
5-138456775-TCGGCA-T c.189_193del p.D63Efs*11 Frameshift 3/10 - 1
5-138456776-G-A c.192C>T p.A64= Synonymous 3/10 - 1
5-138456776-GGC-CCA c.190_192delinsTGG p.A64W Missense 3/10 - 4
5-138456776-GGC-TTA c.190_192delinsTAA p.A64* Nonsense 3/10 - 4
5-138456776-GGC-TTG c.190_192delinsCAA p.A64Q Missense 3/10 - 4
5-138456777-G-A c.191C>T p.A64V Missense 3/10 - 7
5-138456777-GC-AG c.190_191delinsCT p.A64L Missense 3/10 - 3
5-138456777-GC-CG c.190_191delinsCG p.A64R Missense 3/10 - 3
5-138456777-G-T c.191C>A p.A64D Missense 3/10 - 1
5-138456778-C-A c.190G>T p.A64S Missense 3/10 - 3
5-138456778-C-G c.190G>C p.A64P Missense 3/10 - 4
5-138456778-C-T c.190G>A p.A64T Missense 3/10 - 1
5-138456779-A-C c.189T>G p.D63E Missense 3/10 - 1
5-138456779-A-T c.189T>A p.D63E Missense 3/10 - 1
5-138456781-C-T c.187G>A p.D63N Missense 3/10 - 1
5-138456780-T-TC c.187dup p.D63Gfs*13 Frameshift 3/10 - 1
5-138456782-C-A c.186G>T p.L62= Synonymous 3/10 - 1
5-138456782-C-G c.186G>C p.L62= Synonymous 3/10 - 1
5-138456782-C-T c.186G>A p.L62= Synonymous 3/10 - 1
5-138456784-G-A c.184C>T p.L62= Synonymous 3/10 - 2
5-138456785-C-A c.183G>T p.E61D Missense 3/10 - 1
5-138456785-C-G c.183G>C p.E61D Missense 3/10 - 2
5-138456785-CTC-ACA c.181_183delinsTGT p.E61C Missense 3/10 - 1
5-138456786-T-A c.182A>T p.E61V Missense 3/10 - 2
5-138456786-T-C c.182A>G p.E61G Missense 3/10 - 1
5-138456787-C-A c.181G>T p.E61* Nonsense 3/10 - 1
5-138456787-C-G c.181G>C p.E61Q Missense 3/10 - 1
5-138456787-C-T c.181G>A p.E61K Missense 3/10 - 3
5-138456788-C-A c.180G>T p.E60D Missense 3/10 - 1
5-138456788-C-T c.180G>A p.E60= Synonymous 3/10 - 4
5-138456788-CTC-AAA c.178_180delinsTTT p.E60F Missense 3/10 - 1
5-138456788-C-CT c.179dup p.E61Gfs*15 Frameshift 3/10 - 1
5-138456789-T-C c.179A>G p.E60G Missense 3/10 - 1
5-138456789-TC-GG c.178_179delinsCC p.E60P Missense 3/10 - 1
5-138456790-C-G c.178G>C p.E60Q Missense 3/10 - 1
5-138456791-C-T c.177G>A p.E59= Synonymous 3/10 - 3
5-138456792-T-C c.176A>G p.E59G Missense 3/10 - 2
5-138456792-T-G c.176A>C p.E59A Missense 3/10 - 1
5-138456793-C-A c.175G>T p.E59* Nonsense 3/10 - 1
5-138456793-C-T c.175G>A p.E59K Missense 3/10 - 2
5-138456794-G-A c.174C>T p.A58= Synonymous 3/10 - 2
5-138456794-G-C c.174C>G p.A58= Synonymous 3/10 - 3
5-138456794-GG-CT c.173_174delinsAG p.A58E Missense 3/10 - 2
5-138456794-G-T c.174C>A p.A58= Synonymous 3/10 - 3
5-138456795-G-A c.173C>T p.A58V Missense 3/10 - 1
5-138456795-GC-AA c.172_173delinsTT p.A58F Missense 3/10 - 2
5-138456795-GC-CA c.172_173delinsTG p.A58C Missense 3/10 - 2
5-138456795-G-T c.173C>A p.A58D Missense 3/10 - 1
5-138456796-C-T c.172G>A p.A58T Missense 3/10 - 2
5-138456796-GC-G c.172del p.A58Pfs*36 Frameshift 3/10 - 1
5-138456797-T-A c.171A>T p.K57N Missense 3/10 - 1
5-138456797-T-C c.171A>G p.K57= Synonymous 3/10 - 1
5-138456797-T-G c.171A>C p.K57N Missense 3/10 - 2
5-138456798-T-C c.170A>G p.K57R Missense 3/10 - 1
5-138456798-T-G c.170A>C p.K57T Missense 3/10 - 2
5-138456799-T-G c.169A>C p.K57Q Missense 3/10 - 1
5-138456800-GG-CA c.167_168delinsTG p.T56M Missense 3/10 - 1
5-138456801-G-A c.167C>T p.T56I Missense 3/10 - 1
5-138456801-G-T c.167C>A p.T56N Missense 3/10 - 1
5-138456802-T-C c.166A>G p.T56A Missense 3/10 - 1
5-138456805-C-A c.163G>T p.E55* Nonsense 3/10 - 1
5-138456805-C-G c.163G>C p.E55Q Missense 3/10 - 1
5-138456805-C-T c.163G>A p.E55K Missense 3/10 - 2
5-138456807-TT-GC c.160_161delinsGC p.K54A Missense 3/10 - 1
5-138456809-T-C c.159A>G p.R53= Synonymous 3/10 - 2
5-138456809-TCT-ACA c.157_159delinsTGT p.R53C Missense 3/10 - 1
5-138456809-TCT-ATG c.157_159delinsCAT p.R53H Missense 3/10 - 1
5-138456809-T-G c.159A>C p.R53S Missense 3/10 - 1
5-138456810-C-G c.158G>C p.R53T Missense 3/10 - 1
5-138456810-C-T c.158G>A p.R53K Missense 3/10 - 1
5-138456810-CT-AG c.157_158inv p.R53L Missense 3/10 - 1
5-138456810-CT-TG c.157_158delinsCA p.R53Q Missense 3/10 - 3
5-138456810-C-CT c.157dup p.R53Kfs*23 Frameshift 3/10 - 1
5-138456811-T-A c.157A>T p.R53* Nonsense 3/10 - 1
5-138456811-T-G c.157A>C p.R53= Synonymous 3/10 - 3
5-138456812-C-A c.156G>T p.E52D Missense 3/10 - 2
5-138456812-C-G c.156G>C p.E52D Missense 3/10 - 2
5-138456814-C-T c.154G>A p.E52K Missense 3/10 - 1
5-138456815-T-A c.153A>T p.T51= Synonymous 3/10 - 22
5-138456815-T-C c.153A>G p.T51= Synonymous 3/10 - 25
5-138456815-T-G c.153A>C p.T51= Synonymous 3/10 - 3
5-138456816-G-A c.152C>T p.T51I Missense 3/10 - 3
5-138456815-TGTTTCTTTG-T c.144_152del p.K49_T51del InFrameDeletion 3/10 - 1
5-138456818-T-A c.150A>T p.E50D Missense 3/10 - 1
5-138456818-T-G c.150A>C p.E50D Missense 3/10 - 1
5-138456819-T-G c.149A>C p.E50A Missense 3/10 - 1
5-138456820-C-A c.148G>T p.E50* Nonsense 3/10 - 3
5-138456820-C-G c.148G>C p.E50Q Missense 3/10 - 1
5-138456822-T-A c.146A>T p.K49I Missense 3/10 - 1
5-138456820-CT-C c.147del p.E50Kfs*44 Frameshift 3/10 - 1
5-138456823-T-C c.145A>G p.K49E Missense 3/10 - 1
5-138456823-T-G c.145A>C p.K49Q Missense 3/10 - 1
5-138456826-T-C c.142A>G p.T48A Missense 3/10 - 1
5-138456826-T-G c.142A>C p.T48P Missense 3/10 - 1
5-138456827-GCT-TCA c.139_141delinsTGA p.S47* Nonsense 3/10 - 1
5-138456828-C-A c.140G>T p.S47I Missense 3/10 - 1
5-138456828-C-T c.140G>A p.S47N Missense 3/10 - 1
5-138456828-CT-GG c.139_140delinsCC p.S47P Missense 3/10 - 1
5-138456829-T-C c.139A>G p.S47G Missense 3/10 - 1
5-138456830-G-C c.138C>G p.S46R Missense 3/10 - 1
5-138456830-G-T c.138C>A p.S46R Missense 3/10 - 1
5-138456831-C-A c.137G>T p.S46I Missense 3/10 - 1
5-138456831-C-G c.137G>C p.S46T Missense 3/10 - 2
5-138456831-C-T c.137G>A p.S46N Missense 3/10 - 1
5-138456831-CT-AG c.136_137inv p.S46L Missense 3/10 - 2
5-138456831-CT-GC c.136_137delinsGC p.S46A Missense 3/10 - 1
5-138456832-T-G c.136A>C p.S46R Missense 3/10 - 2
5-138456833-C-A c.135G>T p.K45N Missense 3/10 - 1
5-138456833-C-G c.135G>C p.K45N Missense 3/10 - 1
5-138456835-T-G c.133A>C p.K45Q Missense 3/10 - 1
5-138456837-T-C c.131A>G p.E44G Missense 3/10 - 2
5-138456838-C-G c.130G>C p.E44Q Missense 3/10 - 2
5-138456840-G-A c.128C>T p.P43L Missense 3/10 - 2
5-138456840-G-C c.128C>G p.P43R Missense 3/10 - 1
5-138456841-G-T c.127C>A p.P43T Missense 3/10 - 1
5-138456842-G-C c.126C>G p.N42K Missense 3/10 - 4
5-138456842-G-T c.126C>A p.N42K Missense 3/10 - 5
5-138456843-T-C c.125A>G p.N42S Missense 3/10 - 2
5-138456843-T-G c.125A>C p.N42T Missense 3/10 - 1
5-138456844-T-G c.124A>C p.N42H Missense 3/10 - 1
5-138456846-G-A c.122C>T p.T41I Missense 3/10 - 4
5-138456847-T-C c.121A>G p.T41A Missense 3/10 - 5
5-138456848-C-T c.120G>A p.L40= Synonymous 3/10 - 1
5-138456850-G-A c.118C>T p.L40= Synonymous 3/10 - 1
5-138456850-G-T c.118C>A p.L40M Missense 3/10 - 1
5-138456851-G-A c.117C>T p.A39= Synonymous 3/10 - 5
5-138456851-G-C c.117C>G p.A39= Synonymous 3/10 - 5
5-138456851-GGC-CAT c.115_117delinsATG p.A39M Missense 3/10 - 4
5-138456851-GGC-CCA c.115_117delinsTGG p.A39W Missense 3/10 - 4
5-138456851-GGC-CTT c.115_117delinsAAG p.A39K Missense 3/10 - 4
5-138456851-GGC-TTA c.115_117delinsTAA p.A39* Nonsense 3/10 - 4
5-138456851-G-T c.117C>A p.A39= Synonymous 3/10 - 5
5-138456852-G-A c.116C>T p.A39V Missense 3/10 - 6
5-138456852-GC-AA c.115_116delinsTT p.A39F Missense 3/10 - 1
5-138456852-GC-AG c.115_116delinsCT p.A39L Missense 3/10 - 4
5-138456852-GC-AT c.115_116delinsAT p.A39I Missense 3/10 - 4
5-138456852-GC-CG c.115_116delinsCG p.A39R Missense 3/10 - 5
5-138456852-GC-TA c.115_116delinsTA p.A39Y Missense 3/10 - 4
5-138456852-GC-TT c.115_116delinsAA p.A39N Missense 3/10 - 4
5-138456852-G-T c.116C>A p.A39D Missense 3/10 - 2
5-138456853-C-A c.115G>T p.A39S Missense 3/10 - 6
5-138456853-C-G c.115G>C p.A39P Missense 3/10 - 4
5-138456853-C-T c.115G>A p.A39T Missense 3/10 - 6
5-138456854-A-G c.114T>C p.F38= Synonymous 3/10 - 1
5-138456854-A-C c.114T>G p.F38L Missense 3/10 - 1
5-138456854-A-T c.114T>A p.F38L Missense 3/10 - 1
5-138456856-A-C c.112T>G p.F38V Missense 3/10 - 1
5-138456856-A-G c.112T>C p.F38L Missense 3/10 - 1
5-138456857-C-A c.111G>T p.E37D Missense 3/10 - 1
5-138456857-C-T c.111G>A p.E37= Synonymous 3/10 - 1
5-138456858-T-G c.110A>C p.E37A Missense 3/10 - 2
5-138456859-C-T c.109G>A p.E37K Missense 3/10 - 1
5-138456860-C-A c.108G>T p.K36N Missense 3/10 - 1
5-138456860-CT-GC c.107_108delinsGC p.K36S Missense 3/10 - 1
5-138456861-T-C c.107A>G p.K36R Missense 3/10 - 2
5-138456861-T-G c.107A>C p.K36T Missense 3/10 - 1
5-138456861-TT-CC c.106_107delinsGG p.K36G Missense 3/10 - 1
5-138456862-T-C c.106A>G p.K36E Missense 3/10 - 1
5-138456862-TTCTGAGAAAAGAAAACACAGGGCATGACCCACTGCAACTAGGCGCCAGGTAAGCAGAAA-T c.106-58_106del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/10 2/9 1
5-138456994-G-A c.106-132C>T - IntronicSNV - 2/9 4
5-138456994-G-C c.106-132C>G - IntronicSNV - 2/9 4
5-138463428-CAG-AAA c.103_105delinsTTT p.L35F Missense 2/10 - 1
5-138463428-C-T c.105G>A p.L35= Synonymous 2/10 - 1
5-138463429-AG-GC c.103_104delinsGC p.L35A Missense 2/10 - 1
5-138463430-G-A c.103C>T p.L35= Synonymous 2/10 - 1
5-138463430-G-T c.103C>A p.L35M Missense 2/10 - 2
5-138463431-G-A c.102C>T p.N34= Synonymous 2/10 - 1
5-138463433-T-C c.100A>G p.N34D Missense 2/10 - 1
5-138463434-C-A c.99G>T p.Q33H Missense 2/10 - 1
5-138463434-C-G c.99G>C p.Q33H Missense 2/10 - 1
5-138463436-G-A c.97C>T p.Q33* Nonsense 2/10 - 2
5-138463436-G-C c.97C>G p.Q33E Missense 2/10 - 1
5-138463436-G-T c.97C>A p.Q33K Missense 2/10 - 1
5-138463436-TG-T c.97del p.Q33Rfs*3 Frameshift 2/10 - 1
5-138463438-T-C c.95A>G p.H32R Missense 2/10 - 1
5-138463438-TG-CT c.94_95delinsAG p.H32S Missense 2/10 - 1
5-138463438-TG-GC c.94_95delinsGC p.H32A Missense 2/10 - 1
5-138463439-G-T c.94C>A p.H32N Missense 2/10 - 1
5-138463440-ACT-TCA c.91_93delinsTGA p.S31* Nonsense 2/10 - 1
5-138463440-A-G c.93T>C p.S31= Synonymous 2/10 - 2
5-138463441-C-G c.92G>C p.S31T Missense 2/10 - 1
5-138463441-CT-GG c.91_92delinsCC p.S31P Missense 2/10 - 1
5-138463444-AG-CA c.88_89delinsTG p.L30C Missense 2/10 - 1
5-138463445-G-A c.88C>T p.L30F Missense 2/10 - 1
5-138463445-G-T c.88C>A p.L30I Missense 2/10 - 2
5-138463446-G-T c.87C>A p.C29* Nonsense 2/10 - 1
5-138463448-A-C c.85T>G p.C29G Missense 2/10 - 1
5-138463449-G-GT c.83_84insA p.F28Lfs*48 Frameshift 2/10 - 1
5-138463450-A-C c.83T>G p.F28C Missense 2/10 - 1
5-138463450-A-T c.83T>A p.F28Y Missense 2/10 - 1
5-138463451-A-G c.82T>C p.F28L Missense 2/10 - 1
5-138463452-GG-CA c.80_81delinsTG p.T27M Missense 2/10 - 1
5-138463452-G-T c.81C>A p.T27= Synonymous 2/10 - 1
5-138463453-GT-CC c.79_80delinsGG p.T27G Missense 2/10 - 1
5-138463454-T-G c.79A>C p.T27P Missense 2/10 - 1
5-138463455-G-A c.78C>T p.F26= Synonymous 2/10 - 1
5-138463456-AA-GC c.76_77delinsGC p.F26A Missense 2/10 - 1
5-138463458-GCA-CTC c.73_75delinsGAG p.C25E Missense 2/10 - 1
5-138463458-G-T c.75C>A p.C25* Nonsense 2/10 - 2
5-138463459-CA-GC c.73_74delinsGC p.C25A Missense 2/10 - 2
5-138463459-C-T c.74G>A p.C25Y Missense 2/10 - 1
5-138463459-C-G c.74G>C p.C25S Missense 2/10 - 1
5-138463460-A-C c.73T>G p.C25G Missense 2/10 - 1
5-138463460-A-T c.73T>A p.C25S Missense 2/10 - 1
5-138463461-G-A c.72C>T p.A24= Synonymous 2/10 - 6
5-138463461-G-C c.72C>G p.A24= Synonymous 2/10 - 6
5-138463461-GGC-CAT c.70_72delinsATG p.A24M Missense 2/10 - 4
5-138463461-GGC-CCA c.70_72delinsTGG p.A24W Missense 2/10 - 2
5-138463461-GGC-CTT c.70_72delinsAAG p.A24K Missense 2/10 - 4
5-138463461-GGC-TTA c.70_72delinsTAA p.A24* Nonsense 2/10 - 4
5-138463461-GGC-TTG c.70_72delinsCAA p.A24Q Missense 2/10 - 4
5-138463461-G-T c.72C>A p.A24= Synonymous 2/10 - 6
5-138463462-G-A c.71C>T p.A24V Missense 2/10 - 5
5-138463462-G-C c.71C>G p.A24G Missense 2/10 - 12
5-138463462-GC-AA c.70_71delinsTT p.A24F Missense 2/10 - 2
5-138463462-GC-AG c.70_71delinsCT p.A24L Missense 2/10 - 4
5-138463462-GC-CA c.70_71delinsTG p.A24C Missense 2/10 - 5
5-138463462-GC-CG c.70_71delinsCG p.A24R Missense 2/10 - 4
5-138463462-GC-TG c.70_71delinsCA p.A24H Missense 2/10 - 2
5-138463462-GC-TT c.70_71delinsAA p.A24N Missense 2/10 - 5
5-138463462-G-T c.71C>A p.A24D Missense 2/10 - 8
5-138463463-C-A c.70G>T p.A24S Missense 2/10 - 6
5-138463463-C-G c.70G>C p.A24P Missense 2/10 - 6
5-138463463-C-T c.70G>A p.A24T Missense 2/10 - 7
5-138463464-G-A c.69C>T p.A23= Synonymous 2/10 - 4
5-138463464-G-C c.69C>G p.A23= Synonymous 2/10 - 4
5-138463464-GGC-CAT c.67_69delinsATG p.A23M Missense 2/10 - 11
5-138463464-GGC-CTT c.67_69delinsAAG p.A23K Missense 2/10 - 2
5-138463464-GG-CT c.68_69delinsAG p.A23E Missense 2/10 - 4
5-138463464-G-T c.69C>A p.A23= Synonymous 2/10 - 4
5-138463465-G-A c.68C>T p.A23V Missense 2/10 - 5
5-138463465-G-C c.68C>G p.A23G Missense 2/10 - 4
5-138463465-GC-AG c.67_68delinsCT p.A23L Missense 2/10 - 2
5-138463465-GC-CA c.67_68delinsTG p.A23C Missense 2/10 - 4
5-138463465-GC-CG c.67_68delinsCG p.A23R Missense 2/10 - 3
5-138463465-GC-TA c.67_68delinsTA p.A23Y Missense 2/10 - 3
5-138463465-GC-TG c.67_68delinsCA p.A23H Missense 2/10 - 2
5-138463465-GC-TT c.67_68delinsAA p.A23N Missense 2/10 - 8
5-138463466-C-A c.67G>T p.A23S Missense 2/10 - 1
5-138463466-C-G c.67G>C p.A23P Missense 2/10 - 1
5-138463466-C-T c.67G>A p.A23T Missense 2/10 - 4
5-138463467-C-A c.66G>T p.M22I Missense 2/10 - 1
5-138463468-A-G c.65T>C p.M22T Missense 2/10 - 1
5-138463468-AT-CC c.64_65delinsGG p.M22G Missense 2/10 - 4
5-138463469-T-C c.64A>G p.M22V Missense 2/10 - 1
5-138463469-T-TG c.63_64insC p.M22Hfs*54 Frameshift 2/10 - 1
5-138463470-CAG-AAA c.61_63delinsTTT p.L21F Missense 2/10 - 3
5-138463470-TCA-T c.62_63del p.L21Hfs*54 Frameshift 2/10 - 1
5-138463471-A-G c.62T>C p.L21P Missense 2/10 - 1
5-138463473-CAG-AAA c.58_60delinsTTT p.L20F Missense 2/10 - 1
5-138463473-CAG-ACA c.58_60delinsTGT p.L20C Missense 2/10 - 1
5-138463475-G-T c.58C>A p.L20M Missense 2/10 - 1
5-138463477-C-T c.56G>A p.G19E Missense 2/10 - 1
5-138463478-C-A c.55G>T p.G19W Missense 2/10 - 1
5-138463479-CAAG-C c.52_54del p.L18del InFrameDeletion 2/10 - 1
5-138463480-AG-CA c.52_53delinsTG p.L18C Missense 2/10 - 1
5-138463480-AG-CT c.52_53inv p.L18S Missense 2/10 - 1
5-138463480-AG-GC c.52_53delinsGC p.L18A Missense 2/10 - 2
5-138463480-A-T c.53T>A p.L18H Missense 2/10 - 1
5-138463481-G-A c.52C>T p.L18F Missense 2/10 - 2
5-138463481-G-GA c.51_52insT p.L18Sfs*58 Frameshift 2/10 - 1
5-138463481-G-T c.52C>A p.L18I Missense 2/10 - 2
5-138463482-C-A c.51G>T p.L17= Synonymous 2/10 - 1
5-138463482-CAG-ACA c.49_51delinsTGT p.L17C Missense 2/10 - 1
5-138463482-C-G c.51G>C p.L17= Synonymous 2/10 - 1
5-138463482-C-CACA c.50_51insTGT p.L17_L18insV InFrameInsertion 2/10 - 1
5-138463483-AG-GC c.49_50delinsGC p.L17A Missense 2/10 - 2
5-138463484-G-A c.49C>T p.L17= Synonymous 2/10 - 1
5-138463485-CAT-ACA c.46_48delinsTGT p.M16C Missense 2/10 - 1
5-138463486-A-G c.47T>C p.M16T Missense 2/10 - 2
5-138463486-AT-GC c.46_47delinsGC p.M16A Missense 2/10 - 1
5-138463486-AT-TA c.46_47delinsTA p.M16* Nonsense 2/10 - 1
5-138463490-C-T c.43G>A p.G15S Missense 2/10 - 2
5-138463492-A-G c.41T>C p.L14P Missense 2/10 - 1
5-138463492-AG-GC c.40_41delinsGC p.L14A Missense 2/10 - 1
5-138463494-AGG-CTT c.37_39delinsAAG p.P13K Missense 2/10 - 6
5-138463495-G-A c.38C>T p.P13L Missense 2/10 - 2
5-138463497-A-C c.36T>G p.A12= Synonymous 2/10 - 4
5-138463497-A-G c.36T>C p.A12= Synonymous 2/10 - 4
5-138463497-AGC-CAT c.34_36delinsATG p.A12M Missense 2/10 - 4
5-138463497-AGC-CCA c.34_36delinsTGG p.A12W Missense 2/10 - 4
5-138463497-AGC-CTT c.34_36delinsAAG p.A12K Missense 2/10 - 4
5-138463497-AG-CT c.35_36inv p.A12E Missense 2/10 - 1
5-138463497-AGC-TTA c.34_36delinsTAA p.A12* Nonsense 2/10 - 4
5-138463497-AGC-TTG c.34_36delinsCAA p.A12Q Missense 2/10 - 6
5-138463497-A-T c.36T>A p.A12= Synonymous 2/10 - 6
5-138463498-G-A c.35C>T p.A12V Missense 2/10 - 4
5-138463498-G-C c.35C>G p.A12G Missense 2/10 - 1
5-138463498-GC-AA c.34_35delinsTT p.A12F Missense 2/10 - 4
5-138463498-GC-AG c.34_35delinsCT p.A12L Missense 2/10 - 5
5-138463498-GC-AT c.34_35delinsAT p.A12I Missense 2/10 - 1
5-138463498-GC-CA c.34_35delinsTG p.A12C Missense 2/10 - 3
5-138463498-GC-TA c.34_35delinsTA p.A12Y Missense 2/10 - 4
5-138463498-GC-TG c.34_35delinsCA p.A12H Missense 2/10 - 5
5-138463498-GC-TT c.34_35delinsAA p.A12N Missense 2/10 - 4
5-138463498-G-T c.35C>A p.A12D Missense 2/10 - 5
5-138463499-C-A c.34G>T p.A12S Missense 2/10 - 3
5-138463499-C-G c.34G>C p.A12P Missense 2/10 - 5
5-138463499-C-T c.34G>A p.A12T Missense 2/10 - 8
5-138463500-C-A c.33G>T p.M11I Missense 2/10 - 1
5-138463501-A-G c.32T>C p.M11T Missense 2/10 - 1
5-138463502-T-A c.31A>T p.M11L Missense 2/10 - 1
5-138463502-T-C c.31A>G p.M11V Missense 2/10 - 1
5-138463502-T-G c.31A>C p.M11L Missense 2/10 - 1
5-138463503-C-A c.30G>T p.R10S Missense 2/10 - 1
5-138463503-CCT-ACA c.28_30delinsTGT p.R10C Missense 2/10 - 2
5-138463503-CCT-ATG c.28_30delinsCAT p.R10H Missense 2/10 - 1
5-138463504-C-A c.29G>T p.R10M Missense 2/10 - 1
5-138463504-C-G c.29G>C p.R10T Missense 2/10 - 1
5-138463504-C-T c.29G>A p.R10K Missense 2/10 - 1
5-138463504-CT-GC c.28_29delinsGC p.R10A Missense 2/10 - 1
5-138463504-CT-TA c.28_29delinsTA p.R10* Nonsense 2/10 - 1
5-138463504-CT-TG c.28_29delinsCA p.R10Q Missense 2/10 - 1
5-138463507-G-A c.26C>T p.S9F Missense 2/10 - 1
5-138463507-G-T c.26C>A p.S9Y Missense 2/10 - 1
5-138463506-AGAT-A c.24_26del p.S9del InFrameDeletion 2/10 - 1
5-138463509-TG-AT c.23_24delinsAT p.S8Y Missense 2/10 - 1
5-138463510-G-A c.23C>T p.S8L Missense 2/10 - 1
5-138463510-G-T c.23C>A p.S8* Nonsense 2/10 - 1
5-138463510-TGAAGG-T c.19_23del p.P7Ifs*2 Frameshift 2/10 - 1
5-138463513-G-A c.20C>T p.P7L Missense 2/10 - 2
5-138463515-C-A c.18G>T p.L6= Synonymous 2/10 - 1
5-138463515-C-G c.18G>C p.L6= Synonymous 2/10 - 1
5-138463515-C-T c.18G>A p.L6= Synonymous 2/10 - 1
5-138463517-G-A c.16C>T p.L6= Synonymous 2/10 - 1
5-138463516-A-C c.17T>G p.L6R Missense 2/10 - 1
5-138463516-AG-A c.16del p.L6Cfs*16 Frameshift 2/10 - 1
5-138463519-C-A c.14G>T p.S5I Missense 2/10 - 1
5-138463519-C-T c.14G>A p.S5N Missense 2/10 - 1
5-138463520-T-C c.13A>G p.S5G Missense 2/10 - 1
5-138463521-C-A c.12G>T p.Q4H Missense 2/10 - 1
5-138463521-C-G c.12G>C p.Q4H Missense 2/10 - 1
5-138463522-T-C c.11A>G p.Q4R Missense 2/10 - 1
5-138463523-G-A c.10C>T p.Q4* Nonsense 2/10 - 1
5-138463523-G-C c.10C>G p.Q4E Missense 2/10 - 1
5-138463524-G-A c.9C>T p.P3= Synonymous 2/10 - 2
5-138463524-G-C c.9C>G p.P3= Synonymous 2/10 - 2
5-138463524-G-T c.9C>A p.P3= Synonymous 2/10 - 2
5-138463525-G-A c.8C>T p.P3L Missense 2/10 - 1
5-138463525-G-T c.8C>A p.P3H Missense 2/10 - 1
5-138463526-G-A c.7C>T p.P3S Missense 2/10 - 1
5-138463526-G-C c.7C>G p.P3A Missense 2/10 - 1
5-138463526-G-T c.7C>A p.P3T Missense 2/10 - 1
5-138463527-A-C c.6T>G p.A2= Synonymous 2/10 - 2
5-138463527-A-G c.6T>C p.A2= Synonymous 2/10 - 2
5-138463527-A-T c.6T>A p.A2= Synonymous 2/10 - 2
5-138463528-G-A c.5C>T p.A2V Missense 2/10 - 2
5-138463529-C-CATA c.3_4insTAT p.M1_A2insY InFrameInsertion 2/10 - 1
5-138463531-A-G c.2T>C p.M1? Missense 2/10 - 1
5-138463538-G-C c.-6C>G - 5-UTRSNV 2/10 - 3
5-138463542-C-A c.-10G>T - 5-UTRSNV 2/10 - 1
5-138463542-C-G c.-10G>C - 5-UTRSNV 2/10 - 1
5-138463542-C-T c.-10G>A - 5-UTRSNV 2/10 - 1
5-138463643-T-C c.-10-101A>G - IntronicSNV - 1/9 1
5-138470789-G-A c.-10-7247C>T - IntronicSNV - 1/9 1
5-138470789-G-T c.-10-7247C>A - IntronicSNV - 1/9 1
5-138473077-C-A c.-10-9535G>T - IntronicSNV - 1/9 1
5-138473077-C-CAA c.-10-9537_-10-9536dup - IntronicInsertion - 1/9 4
5-138473077-C-CA c.-10-9536dup - IntronicInsertion - 1/9 4
5-138473113-G-A c.-10-9571C>T - IntronicSNV - 1/9 1
5-138479031-C-T c.-10-15489G>A - IntronicSNV - 1/9 1
5-138479887-C-A c.-10-16345G>T - IntronicSNV - 1/9 1
5-138482506-G-A c.-10-18964C>T - IntronicSNV - 1/9 1
5-138482506-G-T c.-10-18964C>A - IntronicSNV - 1/9 1
5-138488398-T-C c.-10-24856A>G - IntronicSNV - 1/9 1
5-138491137-T-A c.-10-27595A>T - IntronicSNV - 1/9 1
5-138501494-A-G c.-11+32464T>C - intron_variant - 1/9 1
5-138505550-C-G c.-11+28408G>C - intron_variant - 1/9 1
5-138511655-A-G c.-11+22303T>C - intron_variant - 1/9 1
5-138524676-A-C c.-11+9282T>G - intron_variant - 1/9 1
5-138524676-A-T c.-11+9282T>A - intron_variant - 1/9 1