SIAE

SIAE sialic acid acetylesterase

Annotation transcript: NM_170601.5

484 unique variant annotations were identified in 295 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
11-124506681-A-G c.*166T>C - 3-UTRSNV 10/10 - 1
11-124506786-C-G c.*61G>C - 3-UTRSNV 10/10 - 1
11-124506786-C-T c.*61G>A - 3-UTRSNV 10/10 - 1
11-124506854-G-A c.1565C>T p.A522V Missense 10/10 - 1
11-124506863-CT-AA c.1555_1556delinsTT p.S519F Missense 10/10 - 1
11-124506876-G-A c.1543C>T p.P515S Missense 10/10 - 1
11-124506876-G-T c.1543C>A p.P515T Missense 10/10 - 1
11-124506878-C-G c.1541G>C p.G514A Missense 10/10 - 1
11-124506885-C-T c.1534G>A p.D512N Missense 10/10 - 1
11-124506891-T-C c.1528A>G p.I510V Missense 10/10 - 1
11-124506908-G-A c.1511C>T p.P504L Missense 10/10 - 1
11-124506915-G-T c.1504C>A p.P502T Missense 10/10 - 1
11-124506923-C-T c.1496G>A p.S499N Missense 10/10 - 1
11-124506926-C-T c.1493G>A p.S498N Missense 10/10 - 1
11-124506929-G-A c.1490C>T p.P497L Missense 10/10 - 1
11-124506934-G-T c.1485C>A p.Y495* Nonsense 10/10 - 1
11-124506937-T-C c.1482A>G p.L494= Synonymous 10/10 - 1
11-124506938-A-C c.1481T>G p.L494R Missense 10/10 - 1
11-124506940-G-A c.1479C>T p.P493= Synonymous 10/10 - 3
11-124506940-G-C c.1479C>G p.P493= Synonymous 10/10 - 3
11-124506940-G-T c.1479C>A p.P493= Synonymous 10/10 - 3
11-124506942-G-A c.1477C>T p.P493S Missense 10/10 - 1
11-124506943-A-G c.1476T>C p.C492= Synonymous 10/10 - 1
11-124506946-C-T c.1473G>A p.Q491= Synonymous 10/10 - 1
11-124506949-C-T c.1470G>A p.K490= Synonymous 10/10 - 1
11-124506951-T-G c.1468A>C p.K490Q Missense 10/10 - 1
11-124506958-A-G c.1461T>C p.C487= Synonymous 10/10 - 1
11-124506962-G-A c.1457C>T p.P486L Missense 10/10 - 1
11-124506963-G-A c.1456C>T p.P486S Missense 10/10 - 1
11-124506967-C-A c.1452G>T p.T484= Synonymous 10/10 - 1
11-124506967-C-G c.1452G>C p.T484= Synonymous 10/10 - 1
11-124506967-C-T c.1452G>A p.T484= Synonymous 10/10 - 11
11-124506983-C-T c.1436G>A p.R479H Missense 10/10 - 2
11-124506984-G-A c.1435C>T p.R479C Missense 10/10 - 6
11-124506987-G-C c.1432C>G p.L478V Missense 10/10 - 1
11-124506994-C-A c.1425G>T p.V475= Synonymous 10/10 - 1
11-124506994-C-G c.1425G>C p.V475= Synonymous 10/10 - 1
11-124506994-C-T c.1425G>A p.V475= Synonymous 10/10 - 1
11-124507001-C-T c.1418G>A p.G473D Missense 10/10 - 2
11-124507002-C-T c.1417G>A p.G473S Missense 10/10 - 1
11-124507003-A-T c.1416T>A p.H472Q Missense 10/10 - 4
11-124507014-C-T c.1405G>A p.D469N Missense 10/10 - 5
11-124507015-G-A c.1404C>T p.I468= Synonymous 10/10 - 1
11-124507015-G-T c.1404C>A p.I468= Synonymous 10/10 - 2
11-124507018-C-A c.1401G>T p.A467= Synonymous 10/10 - 1
11-124507018-C-G c.1401G>C p.A467= Synonymous 10/10 - 1
11-124507018-C-T c.1401G>A p.A467= Synonymous 10/10 - 1
11-124507019-G-A c.1400C>T p.A467V Missense 10/10 - 10
11-124507020-C-T c.1399G>A p.A467T Missense 10/10 - 1
11-124507022-A-G c.1397T>C p.L466P Missense 10/10 - 1
11-124507032-A-C c.1387T>G p.S463A Missense 10/10 - 1
11-124507034-T-C c.1385A>G p.Q462R Missense 10/10 - 2
11-124507040-G-A c.1379C>T p.S460F Missense 10/10 - 1
11-124507044-C-T c.1375G>A p.V459I Missense 10/10 - 4
11-124507045-G-A c.1374C>T p.T458= Synonymous 10/10 - 3
11-124507051-C-T c.1368G>A p.M456I Missense 10/10 - 2
11-124507052-A-G c.1367T>C p.M456T Missense 10/10 - 5
11-124507059-C-T c.1360G>A p.A454T Missense 10/10 - 1
11-124507066-C-A c.1353G>T p.W451C Missense 10/10 - 2
11-124507066-C-G c.1353G>C p.W451C Missense 10/10 - 1
11-124507073-C-T c.1346G>A p.C449Y Missense 10/10 - 1
11-124507076-C-T c.1343G>A p.R448Q Missense 10/10 - 1
11-124507077-G-A c.1342C>T p.R448* Nonsense 10/10 - 1
11-124507079-T-C c.1340A>G p.H447R Missense 10/10 - 3
11-124507088-CA-GT c.1330_1331delinsAC p.C444T Missense 10/10 - 1
11-124507092-A-G c.1327T>C p.C443R Missense 10/10 - 1
11-124507096-G-C c.1323C>G p.I441M Missense 10/10 - 1
11-124507122-G-A c.1321-24C>T - IntronicSNV - 9/9 1
11-124508345-A-G c.1320+93T>C - IntronicSNV - 9/9 3
11-124508345-A-T c.1320+93T>A - IntronicSNV - 9/9 1
11-124508405-A-G c.1320+33T>C - IntronicSNV - 9/9 1
11-124508417-T-C c.1320+21A>G - IntronicSNV - 9/9 1
11-124508438-C-T c.1320G>A p.E440= Synonymous 9/10 - 1
11-124508444-T-TA c.1313dup p.F439Ifs*2 Frameshift 9/10 - 1
11-124508447-C-T c.1311G>A p.K437= Synonymous 9/10 - 1
11-124508451-T-A c.1307A>T p.N436I Missense 9/10 - 1
11-124508447-CTTG-C c.1308_1310del p.N436del InFrameDeletion 9/10 - 2
11-124508457-T-G c.1301A>C p.K434T Missense 9/10 - 1
11-124508462-C-A c.1296G>T p.Q432H Missense 9/10 - 1
11-124508462-C-G c.1296G>C p.Q432H Missense 9/10 - 1
11-124508468-C-T c.1290G>A p.Q430= Synonymous 9/10 - 1
11-124508475-T-A c.1283A>T p.Q428L Missense 9/10 - 1
11-124508482-A-C c.1276T>G p.Y426D Missense 9/10 - 1
11-124508484-T-C c.1274A>G p.Y425C Missense 9/10 - 3
11-124508493-T-C c.1265A>G p.N422S Missense 9/10 - 1
11-124508502-C-T c.1256G>A p.G419E Missense 9/10 - 1
11-124508508-T-A c.1250A>T p.H417L Missense 9/10 - 1
11-124508511-G-A c.1247C>T p.A416V Missense 9/10 - 1
11-124508521-C-A c.1237G>T p.E413* Nonsense 9/10 - 1
11-124508523-A-C c.1235T>G p.I412R Missense 9/10 - 1
11-124508525-C-T c.1233G>A p.K411= Synonymous 9/10 - 2
11-124508529-T-C c.1229A>G p.E410G Missense 9/10 - 2
11-124508530-C-A c.1228G>T p.E410* Nonsense 9/10 - 1
11-124508531-A-C c.1227T>G p.P409= Synonymous 9/10 - 1
11-124508531-A-G c.1227T>C p.P409= Synonymous 9/10 - 1
11-124508531-A-T c.1227T>A p.P409= Synonymous 9/10 - 1
11-124508544-T-G c.1214A>C p.E405A Missense 9/10 - 1
11-124508547-A-G c.1211T>C p.F404S Missense 9/10 - 8
11-124508549-G-T c.1209C>A p.T403= Synonymous 9/10 - 1
11-124508558-C-A c.1200G>T p.K400N Missense 9/10 - 2
11-124508563-C-T c.1195G>A p.E399K Missense 9/10 - 1
11-124508572-C-T c.1186G>A p.A396T Missense 9/10 - 1
11-124508575-G-C c.1183C>G p.L395V Missense 9/10 - 1
11-124508578-C-T c.1180G>A p.A394T Missense 9/10 - 2
11-124508579-A-C c.1179T>G p.R393= Synonymous 9/10 - 1
11-124508579-A-G c.1179T>C p.R393= Synonymous 9/10 - 1
11-124508579-A-T c.1179T>A p.R393= Synonymous 9/10 - 1
11-124508580-C-T c.1178G>A p.R393H Missense 9/10 - 4
11-124508581-G-A c.1177C>T p.R393C Missense 9/10 - 2
11-124508588-C-T c.1170G>A p.L390= Synonymous 9/10 - 1
11-124508589-A-G c.1169T>C p.L390S Missense 9/10 - 1
11-124508593-G-A c.1165C>T p.H389Y Missense 9/10 - 1
11-124508599-G-A c.1159C>T p.R387W Missense 9/10 - 1
11-124508605-C-T c.1153G>A p.A385T Missense 9/10 - 1
11-124508612-C-A c.1146G>T p.Q382H Missense 9/10 - 1
11-124508612-C-T c.1146G>A p.Q382= Synonymous 9/10 - 1
11-124508613-T-C c.1145A>G p.Q382R Missense 9/10 - 2
11-124508614-G-A c.1144C>T p.Q382* Nonsense 9/10 - 2
11-124508616-T-C c.1142A>G p.K381R Missense 9/10 - 1
11-124508620-C-T c.1138G>A p.D380N Missense 9/10 - 1
11-124508623-G-A c.1135C>T p.R379* Nonsense 9/10 - 1
11-124508699-A-G c.1125-66T>C - IntronicSNV - 8/9 1
11-124508701-G-A c.1125-68C>T - IntronicSNV - 8/9 2
11-124509525-T-C c.1124+81A>G - IntronicSNV - 8/9 4
11-124509617-C-A c.1113G>T p.S371= Synonymous 8/10 - 2
11-124509617-C-G c.1113G>C p.S371= Synonymous 8/10 - 2
11-124509617-C-T c.1113G>A p.S371= Synonymous 8/10 - 2
11-124509618-G-A c.1112C>T p.S371L Missense 8/10 - 1
11-124509622-C-A c.1108G>T p.D370Y Missense 8/10 - 2
11-124509622-C-G c.1108G>C p.D370H Missense 8/10 - 1
11-124509623-T-C c.1107A>G p.R369= Synonymous 8/10 - 1
11-124509624-C-T c.1106G>A p.R369K Missense 8/10 - 3
11-124509634-G-C c.1096C>G p.L366V Missense 8/10 - 1
11-124509640-T-C c.1090A>G p.M364V Missense 8/10 - 1
11-124509647-A-C c.1083T>G p.A361= Synonymous 8/10 - 1
11-124509647-A-G c.1083T>C p.A361= Synonymous 8/10 - 1
11-124509647-A-T c.1083T>A p.A361= Synonymous 8/10 - 1
11-124509651-A-T c.1079T>A p.M360K Missense 8/10 - 1
11-124509655-A-C c.1075T>G p.F359V Missense 8/10 - 1
11-124509660-T-C c.1070A>G p.N357S Missense 8/10 - 1
11-124509662-G-A c.1068C>T p.P356= Synonymous 8/10 - 1
11-124509663-G-A c.1067C>T p.P356L Missense 8/10 - 2
11-124509665-C-T c.1065G>A p.M355I Missense 8/10 - 1
11-124509678-G-A c.1052C>T p.P351L Missense 8/10 - 1
11-124509678-G-T c.1052C>A p.P351H Missense 8/10 - 1
11-124509683-A-C c.1047T>G p.Y349* Nonsense 8/10 - 1
11-124509683-A-T c.1047T>A p.Y349* Nonsense 8/10 - 1
11-124509684-T-C c.1046A>G p.Y349C Missense 8/10 - 7
11-124509688-C-T c.1042G>A p.G348S Missense 8/10 - 1
11-124509689-G-A c.1041C>T p.F347= Synonymous 8/10 - 1
11-124509696-G-T c.1034C>A p.A345E Missense 8/10 - 1
11-124509702-T-G c.1028A>C p.Q343P Missense 8/10 - 1
11-124509708-C-T c.1022G>A p.W341* Nonsense 8/10 - 1
11-124509710-A-C c.1020T>G p.R340= Synonymous 8/10 - 2
11-124509710-AC-TT c.1019_1020delinsAA p.R340Q Missense 8/10 - 1
11-124509710-A-G c.1020T>C p.R340= Synonymous 8/10 - 2
11-124509711-C-T c.1019G>A p.R340H Missense 8/10 - 4
11-124509730-C-T c.1000G>A p.D334N Missense 8/10 - 4
11-124509731-G-A c.999C>T p.D333= Synonymous 8/10 - 3
11-124509754-C-T c.976G>A p.D326N Missense 8/10 - 2
11-124509757-A-G c.973T>C p.S325P Missense 8/10 - 1
11-124509761-T-A c.969A>T p.L323F Missense 8/10 - 2
11-124509761-T-G c.969A>C p.L323F Missense 8/10 - 2
11-124509892-T-G c.967-129A>C - IntronicSNV - 7/9 1
11-124517121-A-C c.966+140T>G - IntronicSNV - 7/9 2
11-124517121-A-G c.966+140T>C - IntronicSNV - 7/9 2
11-124517192-A-C c.966+69T>G - IntronicSNV - 7/9 1
11-124517222-G-A c.966+39C>T - IntronicSNV - 7/9 1
11-124517237-G-C c.966+24C>G - IntronicSNV - 7/9 1
11-124517256-C-T c.966+5G>A - IntronicSNV - 7/9 1
11-124517257-G-A c.966+4C>T - IntronicSNV - 7/9 1
11-124517262-T-C c.965A>G p.Q322R Missense 7/10 - 1
11-124517266-C-A c.961G>T p.V321F Missense 7/10 - 4
11-124517277-G-A c.950C>T p.P317L Missense 7/10 - 3
11-124517278-G-A c.949C>T p.P317S Missense 7/10 - 1
11-124517286-C-T c.941G>A p.R314H Missense 7/10 - 8
11-124517287-G-A c.940C>T p.R314C Missense 7/10 - 1
11-124517290-C-T c.937G>A p.E313K Missense 7/10 - 1
11-124517292-G-A c.935C>T p.T312M Missense 7/10 - 11
11-124517301-T-G c.926A>C p.Q309P Missense 7/10 - 3
11-124517302-G-A c.925C>T p.Q309* Nonsense 7/10 - 1
11-124517305-A-G c.922T>C p.S308P Missense 7/10 - 1
11-124517311-G-A c.916C>T p.R306C Missense 7/10 - 3
11-124517323-C-T c.904G>A p.E302K Missense 7/10 - 4
11-124517332-C-T c.895G>A p.D299N Missense 7/10 - 1
11-124517330-GTCT-G c.894_896del p.E298del InFrameDeletion 7/10 - 1
11-124517335-C-T c.892G>A p.E298K Missense 7/10 - 1
11-124517336-G-A c.891C>T p.I297= Synonymous 7/10 - 3
11-124517336-G-T c.891C>A p.I297= Synonymous 7/10 - 1
11-124517337-A-T c.890T>A p.I297N Missense 7/10 - 1
11-124517339-G-A c.888C>T p.L296= Synonymous 7/10 - 1
11-124517339-G-C c.888C>G p.L296= Synonymous 7/10 - 1
11-124517339-G-T c.888C>A p.L296= Synonymous 7/10 - 1
11-124517341-G-A c.886C>T p.L296F Missense 7/10 - 3
11-124517348-G-A c.879C>T p.F293= Synonymous 7/10 - 1
11-124517355-C-T c.872G>A p.C291Y Missense 7/10 - 1
11-124517357-A-G c.870T>C p.N290= Synonymous 7/10 - 3
11-124517359-T-A c.868A>T p.N290Y Missense 7/10 - 1
11-124517360-G-C c.867C>G p.Y289* Nonsense 7/10 - 1
11-124517360-G-T c.867C>A p.Y289* Nonsense 7/10 - 1
11-124517361-T-A c.866A>T p.Y289F Missense 7/10 - 1
11-124517361-T-C c.866A>G p.Y289C Missense 7/10 - 1
11-124517370-G-A c.857C>T p.T286M Missense 7/10 - 3
11-124517376-T-A c.851A>T p.Y284F Missense 7/10 - 1
11-124517377-A-C c.850T>G p.Y284D Missense 7/10 - 1
11-124517378-A-G c.849T>C p.N283= Synonymous 7/10 - 1
11-124517388-G-T c.839C>A p.S280Y Missense 7/10 - 1
11-124517473-A-G c.833-79T>C - IntronicSNV - 6/9 1
11-124517849-A-G c.832+113T>C - IntronicSNV - 6/9 1
11-124517966-G-A c.828C>T p.Y276= Synonymous 6/10 - 1
11-124517968-A-G c.826T>C p.Y276H Missense 6/10 - 1
11-124517969-C-A c.825G>T p.W275C Missense 6/10 - 1
11-124517969-C-G c.825G>C p.W275C Missense 6/10 - 1
11-124517969-C-T c.825G>A p.W275* Nonsense 6/10 - 1
11-124517979-C-A c.815G>T p.G272V Missense 6/10 - 1
11-124517980-C-T c.814G>A p.G272R Missense 6/10 - 1
11-124517988-G-A c.806C>T p.T269I Missense 6/10 - 1
11-124517993-A-G c.801T>C p.N267= Synonymous 6/10 - 1
11-124517998-A-C c.796T>G p.C266G Missense 6/10 - 2
11-124518013-T-C c.781A>G p.M261V Missense 6/10 - 1
11-124518023-G-A c.771C>T p.L257= Synonymous 6/10 - 2
11-124518023-G-C c.771C>G p.L257= Synonymous 6/10 - 2
11-124518023-G-T c.771C>A p.L257= Synonymous 6/10 - 2
11-124518025-G-C c.769C>G p.L257V Missense 6/10 - 7
11-124518026-A-C c.768T>G p.V256= Synonymous 6/10 - 1
11-124518026-A-G c.768T>C p.V256= Synonymous 6/10 - 1
11-124518026-A-T c.768T>A p.V256= Synonymous 6/10 - 1
11-124518029-A-G c.765T>C p.S255= Synonymous 6/10 - 1
11-124518031-A-C c.763T>G p.S255A Missense 6/10 - 1
11-124518033-T-A c.761A>T p.H254L Missense 6/10 - 1
11-124518034-G-A c.760C>T p.H254Y Missense 6/10 - 1
11-124518040-T-A c.754A>T p.S252C Missense 6/10 - 2
11-124518042-G-A c.752C>T p.P251L Missense 6/10 - 1
11-124518044-A-C c.750T>G p.G250= Synonymous 6/10 - 1
11-124518044-A-G c.750T>C p.G250= Synonymous 6/10 - 1
11-124518044-A-T c.750T>A p.G250= Synonymous 6/10 - 1
11-124518048-G-A c.746C>T p.T249I Missense 6/10 - 1
11-124518054-G-A c.740C>T p.S247F Missense 6/10 - 1
11-124518054-G-T c.740C>A p.S247Y Missense 6/10 - 1
11-124518058-C-T c.736G>A p.D246N Missense 6/10 - 5
11-124518069-G-A c.725C>T p.S242F Missense 6/10 - 3
11-124518115-T-A c.723-44A>T - IntronicSNV - 5/9 1
11-124519450-G-A c.722+65C>T - IntronicSNV - 5/9 1
11-124519478-G-A c.722+37C>T - IntronicSNV - 5/9 4
11-124519516-C-G c.721G>C p.G241R Missense 5/10 - 2
11-124519516-C-T c.721G>A p.G241R Missense 5/10 - 2
11-124519519-G-A c.718C>T p.Q240* Nonsense 5/10 - 1
11-124519534-A-C c.703T>G p.C235G Missense 5/10 - 1
11-124519548-CG-TT c.688_689delinsAA p.R230K Missense 5/10 - 1
11-124519548-C-T c.689G>A p.R230Q Missense 5/10 - 2
11-124519549-G-A c.688C>T p.R230W Missense 5/10 - 9
11-124519554-G-A c.683C>T p.S228F Missense 5/10 - 2
11-124519554-G-C c.683C>G p.S228C Missense 5/10 - 1
11-124519563-G-A c.674C>T p.A225V Missense 5/10 - 1
11-124519572-G-A c.665C>T p.P222L Missense 5/10 - 2
11-124519573-G-C c.664C>G p.P222A Missense 5/10 - 1
11-124519573-G-T c.664C>A p.P222T Missense 5/10 - 1
11-124519575-G-T c.662C>A p.T221K Missense 5/10 - 1
11-124519579-C-T c.658G>A p.G220R Missense 5/10 - 1
11-124519580-G-A c.657C>T p.G219= Synonymous 5/10 - 2
11-124519580-G-C c.657C>G p.G219= Synonymous 5/10 - 1
11-124519580-G-T c.657C>A p.G219= Synonymous 5/10 - 1
11-124519581-C-T c.656G>A p.G219D Missense 5/10 - 1
11-124519583-C-T c.654G>A p.W218* Nonsense 5/10 - 1
11-124519585-A-G c.652T>C p.W218R Missense 5/10 - 2
11-124519585-A-T c.652T>A p.W218R Missense 5/10 - 1
11-124519588-T-TA c.648_649insT p.S217* Nonsense 5/10 - 1
11-124519590-G-A c.647C>T p.S216F Missense 5/10 - 1
11-124519594-C-T c.643G>A p.A215T Missense 5/10 - 1
11-124519595-G-A c.642C>T p.I214= Synonymous 5/10 - 4
11-124519595-G-C c.642C>G p.I214M Missense 5/10 - 1
11-124519595-G-T c.642C>A p.I214= Synonymous 5/10 - 1
11-124519599-A-G c.638T>C p.L213P Missense 5/10 - 1
11-124519603-C-G c.634G>C p.G212R Missense 5/10 - 3
11-124519603-C-T c.634G>A p.G212R Missense 5/10 - 9
11-124519604-G-A c.633C>T p.I211= Synonymous 5/10 - 3
11-124519604-G-T c.633C>A p.I211= Synonymous 5/10 - 2
11-124519608-G-A c.629C>T p.P210L Missense 5/10 - 1
11-124519617-A-T c.620T>A p.L207Q Missense 5/10 - 1
11-124519620-G-A c.617C>T p.T206I Missense 5/10 - 3
11-124519625-A-C c.612T>G p.Y204* Nonsense 5/10 - 1
11-124519625-A-T c.612T>A p.Y204* Nonsense 5/10 - 3
11-124519635-C-T c.602G>A p.R201H Missense 5/10 - 2
11-124519636-G-A c.601C>T p.R201C Missense 5/10 - 1
11-124519638-C-T c.599G>A p.G200E Missense 5/10 - 1
11-124519641-A-C c.596T>G p.F199C Missense 5/10 - 2
11-124519648-A-T c.589T>A p.W197R Missense 5/10 - 1
11-124519650-C-A c.587G>T p.C196F Missense 5/10 - 10
11-124519652-C-A c.585G>T p.V195= Synonymous 5/10 - 1
11-124519655-T-C c.582A>G p.A194= Synonymous 5/10 - 1
11-124519664-G-A c.573C>T p.Y191= Synonymous 5/10 - 1
11-124519677-C-A c.560G>T p.G187V Missense 5/10 - 1
11-124519688-G-C c.549C>G p.N183K Missense 5/10 - 1
11-124519689-T-G c.548A>C p.N183T Missense 5/10 - 3
11-124519736-G-C c.545-44C>G - IntronicSNV - 4/9 1
11-124522607-A-C c.544+1944T>G - IntronicSNV - 4/9 1
11-124522607-A-G c.544+1944T>C - IntronicSNV - 4/9 1
11-124522607-A-T c.544+1944T>A - IntronicSNV - 4/9 1
11-124524532-C-G c.544+19G>C - IntronicSNV - 4/9 1
11-124524532-C-T c.544+19G>A - IntronicSNV - 4/9 1
11-124524533-G-A c.544+18C>T - IntronicSNV - 4/9 2
11-124524555-G-A c.540C>T p.T180= Synonymous 4/10 - 1
11-124524555-G-C c.540C>G p.T180= Synonymous 4/10 - 1
11-124524555-G-T c.540C>A p.T180= Synonymous 4/10 - 1
11-124524559-G-C c.536C>G p.P179R Missense 4/10 - 1
11-124524583-G-A c.512C>T p.A171V Missense 4/10 - 1
11-124524587-C-A c.508G>T p.V170F Missense 4/10 - 1
11-124524587-C-T c.508G>A p.V170I Missense 4/10 - 2
11-124524589-A-C c.506T>G p.L169R Missense 4/10 - 1
11-124524592-T-A c.503A>T p.D168V Missense 4/10 - 1
11-124524593-C-T c.502G>A p.D168N Missense 4/10 - 4
11-124524594-C-A c.501G>T p.E167D Missense 4/10 - 1
11-124524594-C-G c.501G>C p.E167D Missense 4/10 - 1
11-124524596-C-T c.499G>A p.E167K Missense 4/10 - 1
11-124524599-G-T c.496C>A p.L166M Missense 4/10 - 1
11-124524610-G-C c.485C>G p.A162G Missense 4/10 - 1
11-124524614-G-T c.481C>A p.Q161K Missense 4/10 - 3
11-124524622-G-A c.473C>T p.S158F Missense 4/10 - 1
11-124524626-C-G c.469G>C p.V157L Missense 4/10 - 2
11-124524627-A-G c.468T>C p.S156= Synonymous 4/10 - 10
11-124524628-G-A c.467C>T p.S156F Missense 4/10 - 6
11-124524628-GA-AG c.466_467delinsCT p.S156L Missense 4/10 - 1
11-124524632-G-C c.463C>G p.L155V Missense 4/10 - 1
11-124524636-G-A c.459C>T p.R153= Synonymous 4/10 - 2
11-124524637-C-T c.458G>A p.R153H Missense 4/10 - 2
11-124524638-G-A c.457C>T p.R153C Missense 4/10 - 4
11-124524638-G-T c.457C>A p.R153S Missense 4/10 - 1
11-124524643-GA-AT c.451_452delinsAT p.S151I Missense 4/10 - 1
11-124524647-G-T c.448C>A p.Q150K Missense 4/10 - 1
11-124524655-G-A c.440C>T p.A147V Missense 4/10 - 3
11-124524658-G-C c.437C>G p.T146S Missense 4/10 - 1
11-124524659-T-A c.436A>T p.T146S Missense 4/10 - 1
11-124524668-A-G c.427T>C p.L143= Synonymous 4/10 - 1
11-124524673-CT-TA c.421_422delinsTA p.R141* Nonsense 4/10 - 1
11-124524676-G-A c.419C>T p.T140I Missense 4/10 - 1
11-124527648-C-A c.405+2876G>T - IntronicSNV - 3/9 1
11-124530193-G-A c.405+331C>T - IntronicSNV - 3/9 1
11-124530283-G-T c.405+241C>A - IntronicSNV - 3/9 1
11-124530528-A-G c.401T>C p.L134S Missense 3/10 - 1
11-124530549-CT-GC c.379_380delinsGC p.S127A Missense 3/10 - 4
11-124530553-G-C c.376C>G p.Q126E Missense 3/10 - 1
11-124530553-G-T c.376C>A p.Q126K Missense 3/10 - 1
11-124530558-C-T c.371G>A p.S124N Missense 3/10 - 2
11-124530581-C-T c.348G>A p.L116= Synonymous 3/10 - 1
11-124530582-AG-GC c.346_347delinsGC p.L116A Missense 3/10 - 1
11-124530587-G-A c.342C>T p.D114= Synonymous 3/10 - 1
11-124530591-T-C c.338A>G p.H113R Missense 3/10 - 1
11-124530592-G-A c.337C>T p.H113Y Missense 3/10 - 1
11-124530597-C-T c.332G>A p.R111K Missense 3/10 - 1
11-124530601-G-T c.328C>A p.L110M Missense 3/10 - 1
11-124530602-G-A c.327C>T p.T109= Synonymous 3/10 - 1
11-124530603-G-A c.326C>T p.T109I Missense 3/10 - 1
11-124530605-G-A c.324C>T p.F108= Synonymous 3/10 - 1
11-124530608-G-C c.321C>G p.N107K Missense 3/10 - 1
11-124530626-C-A c.303G>T p.Q101H Missense 3/10 - 1
11-124530626-C-G c.303G>C p.Q101H Missense 3/10 - 1
11-124530628-G-T c.301C>A p.Q101K Missense 3/10 - 1
11-124530643-C-A c.286G>T p.E96* Nonsense 3/10 - 1
11-124530643-C-T c.286G>A p.E96K Missense 3/10 - 12
11-124530644-G-A c.285C>T p.F95= Synonymous 3/10 - 4
11-124530655-C-A c.274G>T p.G92* Nonsense 3/10 - 1
11-124530657-G-C c.272C>G p.P91R Missense 3/10 - 1
11-124530663-A-G c.266T>C p.M89T Missense 3/10 - 1
11-124530664-T-A c.265A>T p.M89L Missense 3/10 - 4
11-124530664-T-C c.265A>G p.M89V Missense 3/10 - 27
11-124530667-G-A c.262C>T p.P88S Missense 3/10 - 2
11-124530673-G-T c.256C>A p.L86M Missense 3/10 - 2
11-124530684-C-A c.245G>T p.W82L Missense 3/10 - 1
11-124530687-CG-C c.242del p.T81Sfs*9 Frameshift 3/10 - 1
11-124530687-G-A c.242C>T p.T81M Missense 3/10 - 1
11-124530693-G-A c.236C>T p.S79F Missense 3/10 - 1
11-124530697-G-A c.232C>T p.H78Y Missense 3/10 - 1
11-124530700-C-A c.230-1G>T - IntronicSNV - 2/9 1
11-124537642-G-A c.229+1614C>T - IntronicSNV - 2/9 1
11-124537995-T-A c.229+1261A>T - IntronicSNV - 2/9 1
11-124537995-T-C c.229+1261A>G - IntronicSNV - 2/9 1
11-124539236-C-T c.229+20G>A - IntronicSNV - 2/9 8
11-124539254-A-G c.229+2T>C - IntronicSNV - 2/9 1
11-124539267-G-C c.218C>G p.T73S Missense 2/10 - 1
11-124539268-T-A c.217A>T p.T73S Missense 2/10 - 1
11-124539269-CAC-GAT c.214_216delinsATC p.V72I Missense 2/10 - 1
11-124539273-T-C c.212A>G p.K71R Missense 2/10 - 15
11-124539274-T-C c.211A>G p.K71E Missense 2/10 - 1
11-124539275-C-A c.210G>T p.K70N Missense 2/10 - 1
11-124539275-C-G c.210G>C p.K70N Missense 2/10 - 1
11-124539276-T-C c.209A>G p.K70R Missense 2/10 - 1
11-124539278-C-A c.207G>T p.M69I Missense 2/10 - 1
11-124539278-C-G c.207G>C p.M69I Missense 2/10 - 1
11-124539278-C-T c.207G>A p.M69I Missense 2/10 - 1
11-124539279-A-G c.206T>C p.M69T Missense 2/10 - 1
11-124539283-T-C c.202A>G p.I68V Missense 2/10 - 1
11-124539285-G-A c.200C>T p.T67I Missense 2/10 - 1
11-124539286-T-G c.199A>C p.T67P Missense 2/10 - 2
11-124539295-C-T c.190G>A p.G64S Missense 2/10 - 9
11-124539300-C-T c.185G>A p.R62H Missense 2/10 - 2
11-124539305-G-A c.180C>T p.T60= Synonymous 2/10 - 1
11-124539307-T-C c.178A>G p.T60A Missense 2/10 - 2
11-124539309-A-C c.176T>G p.V59G Missense 2/10 - 2
11-124539310-C-T c.175G>A p.V59M Missense 2/10 - 1
11-124539311-G-A c.174C>T p.T58= Synonymous 2/10 - 1
11-124539314-C-A c.171G>T p.V57= Synonymous 2/10 - 1
11-124539314-C-G c.171G>C p.V57= Synonymous 2/10 - 1
11-124539314-C-T c.171G>A p.V57= Synonymous 2/10 - 1
11-124539317-T-C c.168A>G p.T56= Synonymous 2/10 - 1
11-124539317-T-G c.168A>C p.T56= Synonymous 2/10 - 1
11-124539320-G-A c.165C>T p.A55= Synonymous 2/10 - 1
11-124539320-G-C c.165C>G p.A55= Synonymous 2/10 - 1
11-124539320-G-T c.165C>A p.A55= Synonymous 2/10 - 1
11-124539321-GC-CG c.163_164delinsCG p.A55R Missense 2/10 - 1
11-124539322-C-A c.163G>T p.A55S Missense 2/10 - 1
11-124539333-C-T c.152G>A p.G51D Missense 2/10 - 2
11-124539339-C-A c.146G>T p.G49V Missense 2/10 - 1
11-124539341-C-T c.144G>A p.W48* Nonsense 2/10 - 3
11-124539342-C-T c.143G>A p.W48* Nonsense 2/10 - 5
11-124539345-AT-GC c.139_140delinsGC p.I47A Missense 2/10 - 1
11-124539346-T-C c.139A>G p.I47V Missense 2/10 - 2
11-124539347-CAC-AAA c.136_138delinsTTT p.V46F Missense 2/10 - 1
11-124539352-C-A c.133G>T p.A45S Missense 2/10 - 1
11-124539353-C-A c.132G>T p.G44= Synonymous 2/10 - 1
11-124539357-GC-AA c.127_128delinsTT p.A43F Missense 2/10 - 1
11-124539363-T-G c.122A>C p.E41A Missense 2/10 - 1
11-124539368-C-A c.117G>T p.Q39H Missense 2/10 - 3
11-124539368-C-G c.117G>C p.Q39H Missense 2/10 - 2
11-124539375-A-G c.110T>C p.V37A Missense 2/10 - 1
11-124539376-C-T c.109G>A p.V37M Missense 2/10 - 1
11-124539377-C-A c.108G>T p.M36I Missense 2/10 - 2
11-124539377-C-G c.108G>C p.M36I Missense 2/10 - 2
11-124539377-C-T c.108G>A p.M36I Missense 2/10 - 2
11-124539387-T-C c.98A>G p.N33S Missense 2/10 - 2
11-124539393-T-C c.92A>G p.Y31C Missense 2/10 - 2
11-124539396-G-C c.89C>G p.S30* Nonsense 2/10 - 1
11-124539398-AG-CT c.86_87inv p.A29E Missense 2/10 - 2
11-124539398-AGC-TTA c.85_87delinsTAA p.A29* Nonsense 2/10 - 2
11-124539399-G-T c.86C>A p.A29D Missense 2/10 - 1
11-124539400-C-T c.85G>A p.A29T Missense 2/10 - 2
11-124539405-C-T c.80G>A p.R27H Missense 2/10 - 3
11-124539446-G-A c.68-29C>T - IntronicSNV - 1/9 1
11-124539446-G-T c.68-29C>A - IntronicSNV - 1/9 1
11-124539765-G-C c.68-348C>G - IntronicSNV - 1/9 1
11-124543538-C-A c.67G>T p.G23C Missense 1/10 - 1
11-124543539-TGC-GTT c.64_66delinsAAC p.A22N Missense 1/10 - 1
11-124543540-GC-AG c.64_65delinsCT p.A22L Missense 1/10 - 1
11-124543543-CT-GG c.61_62delinsCC p.S21P Missense 1/10 - 1
11-124543546-C-T c.59G>A p.R20K Missense 1/10 - 1
11-124543548-G-A c.57C>T p.D19= Synonymous 1/10 - 1
11-124543552-GC-AT c.52_53delinsAT p.A18I Missense 1/10 - 1
11-124543552-GC-CA c.52_53delinsTG p.A18C Missense 1/10 - 1
11-124543552-G-T c.53C>A p.A18D Missense 1/10 - 1
11-124543553-C-A c.52G>T p.A18S Missense 1/10 - 1
11-124543553-C-T c.52G>A p.A18T Missense 1/10 - 3
11-124543554-C-G c.51G>C p.W17C Missense 1/10 - 1
11-124543562-T-C c.43A>G p.I15V Missense 1/10 - 1
11-124543564-A-G c.41T>C p.L14S Missense 1/10 - 1
11-124543563-T-C c.42A>G p.L14= Synonymous 1/10 - 1
11-124543565-A-G c.40T>C p.L14= Synonymous 1/10 - 1
11-124543567-GG-TT c.37_38delinsAA p.P13K Missense 1/10 - 2
11-124543568-G-T c.37C>A p.P13T Missense 1/10 - 1
11-124543570-A-G c.35T>C p.L12P Missense 1/10 - 1
11-124543572-CAC-GAT c.31_33delinsATC p.V11I Missense 1/10 - 1
11-124543573-A-G c.32T>C p.V11A Missense 1/10 - 1
11-124543574-C-A c.31G>T p.V11L Missense 1/10 - 1
11-124543574-C-G c.31G>C p.V11L Missense 1/10 - 2
11-124543575-CAG-GAT c.28_30delinsATC p.L10I Missense 1/10 - 1
11-124543576-A-C c.29T>G p.L10R Missense 1/10 - 1
11-124543576-AG-GA c.28_29delinsTC p.L10S Missense 1/10 - 1
11-124543576-AG-GC c.28_29delinsGC p.L10A Missense 1/10 - 1
11-124543579-C-A c.26G>T p.G9V Missense 1/10 - 1
11-124543579-C-T c.26G>A p.G9E Missense 1/10 - 1
11-124543583-G-C c.22C>G p.L8V Missense 1/10 - 1
11-124543584-T-A c.21A>T p.V7= Synonymous 1/10 - 1
11-124543590-C-A c.15G>T p.G5= Synonymous 1/10 - 1
11-124543590-C-G c.15G>C p.G5= Synonymous 1/10 - 1
11-124543590-C-T c.15G>A p.G5= Synonymous 1/10 - 1
11-124543593-C-A c.12G>T p.P4= Synonymous 1/10 - 1
11-124543593-C-G c.12G>C p.P4= Synonymous 1/10 - 1
11-124543593-C-T c.12G>A p.P4= Synonymous 1/10 - 1
11-124543594-G-A c.11C>T p.P4L Missense 1/10 - 1
11-124543595-G-T c.10C>A p.P4T Missense 1/10 - 1
11-124543597-G-C c.8C>G p.A3G Missense 1/10 - 3
11-124543599-G-C c.6C>G p.V2= Synonymous 1/10 - 1
11-124543603-A-G c.2T>C p.M1? Missense 1/10 - 2
11-124543603-A-T c.2T>A p.M1? Missense 1/10 - 1
11-124543615-A-C c.-11T>G - 5-UTRSNV 1/10 - 1
11-124543615-A-T c.-11T>A - 5-UTRSNV 1/10 - 1