CDC25A

CDC25A cell division cycle 25A

Annotation transcript: NM_001789.3

522 unique variant annotations were identified in 290 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
3-48199695-T-C c.*740A>G - 3-UTRSNV 15/15 - 1
3-48199877-G-A c.*558C>T - 3-UTRSNV 15/15 - 1
3-48200169-A-G c.*266T>C - 3-UTRSNV 15/15 - 1
3-48200449-G-T c.1561C>A p.L521M Missense 15/15 - 1
3-48200451-C-T c.1559G>A p.R520H Missense 15/15 - 6
3-48200456-G-A c.1554C>T p.Y518= Synonymous 15/15 - 1
3-48200456-G-C c.1554C>G p.Y518* Nonsense 15/15 - 1
3-48200457-T-A c.1553A>T p.Y518F Missense 15/15 - 1
3-48200459-C-A c.1551G>T p.M517I Missense 15/15 - 1
3-48200459-C-G c.1551G>C p.M517I Missense 15/15 - 1
3-48200459-C-T c.1551G>A p.M517I Missense 15/15 - 1
3-48200464-C-A c.1546G>T p.E516* Nonsense 15/15 - 1
3-48200465-C-T c.1545G>A p.R515= Synonymous 15/15 - 1
3-48200467-T-G c.1543A>C p.R515= Synonymous 15/15 - 1
3-48200472-C-A c.1538G>T p.S513I Missense 15/15 - 1
3-48200474-C-T c.1536G>A p.K512= Synonymous 15/15 - 1
3-48200484-G-A c.1526C>T p.A509V Missense 15/15 - 1
3-48200492-C-T c.1518G>A p.R506= Synonymous 15/15 - 1
3-48200493-C-T c.1517G>A p.R506Q Missense 15/15 - 5
3-48200494-G-A c.1516C>T p.R506W Missense 15/15 - 2
3-48200495-G-T c.1515C>A p.S505R Missense 15/15 - 1
3-48200496-C-T c.1514G>A p.S505N Missense 15/15 - 1
3-48200504-G-A c.1506C>T p.R502= Synonymous 15/15 - 1
3-48200504-G-C c.1506C>G p.R502= Synonymous 15/15 - 2
3-48200504-G-T c.1506C>A p.R502= Synonymous 15/15 - 1
3-48200506-G-A c.1504C>T p.R502C Missense 15/15 - 1
3-48200517-A-G c.1493T>C p.L498P Missense 15/15 - 1
3-48200518-G-C c.1492C>G p.L498V Missense 15/15 - 1
3-48200521-C-A c.1489G>T p.D497Y Missense 15/15 - 1
3-48200536-C-T c.1474G>A p.E492K Missense 15/15 - 3
3-48200537-G-A c.1473C>T p.H491= Synonymous 15/15 - 3
3-48200539-G-A c.1471C>T p.H491Y Missense 15/15 - 1
3-48200551-G-A c.1459C>T p.R487W Missense 15/15 - 2
3-48200553-T-A c.1457A>T p.Y486F Missense 15/15 - 1
3-48200554-A-C c.1456T>G p.Y486D Missense 15/15 - 2
3-48200554-A-T c.1456T>A p.Y486N Missense 15/15 - 1
3-48200556-C-T c.1454G>A p.S485N Missense 15/15 - 1
3-48200559-G-A c.1451C>T p.P484L Missense 15/15 - 1
3-48200559-G-C c.1451C>G p.P484R Missense 15/15 - 1
3-48200560-G-A c.1450C>T p.P484S Missense 15/15 - 3
3-48200560-G-T c.1450C>A p.P484T Missense 15/15 - 1
3-48200561-G-A c.1449C>T p.P483= Synonymous 15/15 - 1
3-48200561-G-C c.1449C>G p.P483= Synonymous 15/15 - 1
3-48200561-G-T c.1449C>A p.P483= Synonymous 15/15 - 1
3-48200562-G-A c.1448C>T p.P483L Missense 15/15 - 1
3-48200567-A-G c.1443T>C p.C481= Synonymous 15/15 - 1
3-48200572-A-G c.1438T>C p.Y480H Missense 15/15 - 1
3-48200835-T-C c.1433A>G p.Q478R Missense 14/15 - 1
3-48200837-G-A c.1431C>T p.C477= Synonymous 14/15 - 3
3-48200845-T-A c.1423A>T p.M475L Missense 14/15 - 2
3-48200851-A-G c.1417T>C p.F473L Missense 14/15 - 2
3-48200862-C-T c.1406G>A p.G469E Missense 14/15 - 2
3-48200861-TC-T c.1406del p.G469Dfs*7 Frameshift 14/15 - 1
3-48200873-G-A c.1395C>T p.V465= Synonymous 14/15 - 1
3-48200873-G-C c.1395C>G p.V465= Synonymous 14/15 - 1
3-48200873-G-T c.1395C>A p.V465= Synonymous 14/15 - 1
3-48200875-C-T c.1393G>A p.V465I Missense 14/15 - 1
3-48200878-A-G c.1390T>C p.Y464H Missense 14/15 - 1
3-48200883-T-C c.1385A>G p.E462G Missense 14/15 - 2
3-48200884-C-T c.1384G>A p.E462K Missense 14/15 - 1
3-48200885-A-C c.1383T>G p.P461= Synonymous 14/15 - 1
3-48200887-G-A c.1381C>T p.P461S Missense 14/15 - 1
3-48200887-G-T c.1381C>A p.P461T Missense 14/15 - 1
3-48200892-T-C c.1376A>G p.H459R Missense 14/15 - 1
3-48200898-TTTG-T c.1368_1370del p.K457del InFrameDeletion 14/15 - 1
3-48200917-G-T c.1351C>A p.L451M Missense 14/15 - 1
3-48200920-G-A c.1348C>T p.R450C Missense 14/15 - 6
3-48200923-C-CA c.1344_1345insT p.D449* Nonsense 14/15 - 2
3-48200925-C-G c.1343G>C p.R448T Missense 14/15 - 1
3-48200932-T-A c.1336A>T p.R446* Nonsense 14/15 - 12
3-48200937-T-C c.1331A>G p.Y444C Missense 14/15 - 1
3-48200940-C-T c.1328G>A p.R443Q Missense 14/15 - 4
3-48200941-G-A c.1327C>T p.R443W Missense 14/15 - 2
3-48200943-C-G c.1325G>C p.C442S Missense 14/15 - 1
3-48200944-A-G c.1324T>C p.C442R Missense 14/15 - 1
3-48200944-A-T c.1324T>A p.C442S Missense 14/15 - 1
3-48204768-C-A c.1322+1029G>T - IntronicSNV - 13/14 1
3-48204768-C-G c.1322+1029G>C - IntronicSNV - 13/14 1
3-48204768-C-T c.1322+1029G>A - IntronicSNV - 13/14 1
3-48204921-C-T c.1322+876G>A - IntronicSNV - 13/14 1
3-48205800-C-T c.1319G>A p.R440H Missense 13/15 - 2
3-48205803-G-A c.1316C>T p.P439L Missense 13/15 - 1
3-48205813-C-T c.1306G>A p.E436K Missense 13/15 - 1
3-48205814-A-G c.1305T>C p.S435= Synonymous 13/15 - 1
3-48205818-G-A c.1301C>T p.S434F Missense 13/15 - 2
3-48205819-A-C c.1300T>G p.S434A Missense 13/15 - 1
3-48205823-CTC-AAA c.1294_1296delinsTTT p.E432F Missense 13/15 - 1
3-48205827-C-G c.1292G>C p.C431S Missense 13/15 - 5
3-48205828-A-T c.1291T>A p.C431S Missense 13/15 - 5
3-48205842-A-G c.1277T>C p.I426T Missense 13/15 - 1
3-48205843-T-C c.1276A>G p.I426V Missense 13/15 - 1
3-48205844-G-A c.1275C>T p.V425= Synonymous 13/15 - 1
3-48205844-G-C c.1275C>G p.V425= Synonymous 13/15 - 1
3-48205844-G-T c.1275C>A p.V425= Synonymous 13/15 - 1
3-48205845-A-G c.1274T>C p.V425A Missense 13/15 - 1
3-48205848-C-T c.1271G>A p.R424H Missense 13/15 - 3
3-48205849-G-A c.1270C>T p.R424C Missense 13/15 - 1
3-48205856-A-C c.1263T>G p.D421E Missense 13/15 - 1
3-48205857-T-C c.1262A>G p.D421G Missense 13/15 - 1
3-48205860-GT-TG c.1258_1259delinsCA p.T420H Missense 13/15 - 1
3-48205864-G-A c.1255C>T p.P419S Missense 13/15 - 1
3-48205881-AA-GC c.1237_1238delinsGC p.L413A Missense 13/15 - 1
3-48205880-C-T c.1239G>A p.L413= Synonymous 13/15 - 1
3-48205882-A-C c.1237T>G p.L413V Missense 13/15 - 1
3-48205882-A-G c.1237T>C p.L413= Synonymous 13/15 - 1
3-48205883-T-C c.1236A>G p.L412= Synonymous 13/15 - 2
3-48205885-A-G c.1234T>C p.L412= Synonymous 13/15 - 1
3-48205889-G-C c.1230C>G p.D410E Missense 13/15 - 1
3-48205889-G-T c.1230C>A p.D410E Missense 13/15 - 1
3-48205894-C-A c.1225G>T p.E409* Nonsense 13/15 - 1
3-48205896-A-G c.1223T>C p.V408A Missense 13/15 - 4
3-48205906-C-T c.1213G>A p.E405K Missense 13/15 - 2
3-48205911-T-C c.1208A>G p.H403R Missense 13/15 - 1
3-48205919-C-A c.1200G>T p.V400= Synonymous 13/15 - 1
3-48205919-C-G c.1200G>C p.V400= Synonymous 13/15 - 1
3-48205919-C-T c.1200G>A p.V400= Synonymous 13/15 - 1
3-48205920-A-G c.1199T>C p.V400A Missense 13/15 - 1
3-48205923-G-A c.1196C>T p.A399V Missense 13/15 - 1
3-48206102-G-A c.1192-175C>T - IntronicSNV - 12/14 2
3-48206922-T-TA c.1191+203_1191+204insT - IntronicInsertion - 12/14 2
3-48207106-C-T c.1191+20G>A - IntronicSNV - 12/14 1
3-48207131-T-A c.1186A>T p.I396F Missense 12/15 - 1
3-48207137-C-G c.1180G>C p.G394R Missense 12/15 - 1
3-48207138-TCC-GCT c.1177_1179delinsAGC p.G393S Missense 12/15 - 1
3-48207141-C-G c.1176G>C p.E392D Missense 12/15 - 1
3-48207149-C-T c.1168G>A p.E390K Missense 12/15 - 1
3-48207154-G-A c.1163C>T p.P388L Missense 12/15 - 1
3-48207154-G-T c.1163C>A p.P388Q Missense 12/15 - 2
3-48207155-G-T c.1162C>A p.P388T Missense 12/15 - 1
3-48207157-T-C c.1160A>G p.Y387C Missense 12/15 - 1
3-48207160-C-T c.1157G>A p.R386Q Missense 12/15 - 2
3-48207161-G-A c.1156C>T p.R386* Nonsense 12/15 - 1
3-48207163-C-T c.1154G>A p.C385Y Missense 12/15 - 1
3-48207164-A-C c.1153T>G p.C385G Missense 12/15 - 1
3-48207167-C-T c.1150G>A p.D384N Missense 12/15 - 1
3-48207172-A-T c.1145T>A p.I382N Missense 12/15 - 1
3-48207179-ACTCTTTAATGAGGTTGGCAAACTTGC-A c.1112_1137del p.G371Vfs*11 Frameshift 12/15 - 1
3-48207191-G-A c.1126C>T p.L376F Missense 12/15 - 4
3-48207191-G-T c.1126C>A p.L376I Missense 12/15 - 1
3-48207193-T-C c.1124A>G p.N375S Missense 12/15 - 1
3-48207214-A-G c.1103T>C p.V368A Missense 12/15 - 1
3-48207217-G-C c.1100C>G p.S367C Missense 12/15 - 3
3-48207218-A-G c.1099T>C p.S367P Missense 12/15 - 1
3-48207219-T-G c.1098A>C p.A366= Synonymous 12/15 - 1
3-48207328-G-A c.1085C>T p.P362L Missense 11/15 - 2
3-48207330-A-T c.1083T>A p.S361= Synonymous 11/15 - 1
3-48207342-T-A c.1071A>T p.L357F Missense 11/15 - 1
3-48207342-T-G c.1071A>C p.L357F Missense 11/15 - 1
3-48207367-G-A c.1046C>T p.T349I Missense 11/15 - 2
3-48207368-T-G c.1045A>C p.T349P Missense 11/15 - 1
3-48207383-C-A c.1030G>T p.G344C Missense 11/15 - 1
3-48207383-C-G c.1030G>C p.G344R Missense 11/15 - 1
3-48208846-C-G c.1029+490G>C - IntronicSNV - 10/14 1
3-48209064-G-T c.1029+272C>A - IntronicSNV - 10/14 1
3-48209339-G-A c.1026C>T p.S342= Synonymous 10/15 - 2
3-48209355-AAG-A c.1009_1010del p.L337Yfs*41 Frameshift 10/15 - 1
3-48209359-C-T c.1006G>A p.D336N Missense 10/15 - 1
3-48209364-G-A c.1001C>T p.P334L Missense 10/15 - 1
3-48209365-G-A c.1000C>T p.P334S Missense 10/15 - 1
3-48209365-G-C c.1000C>G p.P334A Missense 10/15 - 1
3-48209367-T-C c.998A>G p.D333G Missense 10/15 - 1
3-48209368-C-T c.997G>A p.D333N Missense 10/15 - 1
3-48209371-T-C c.994A>G p.N332D Missense 10/15 - 1
3-48209375-C-A c.990G>T p.L330F Missense 10/15 - 1
3-48209375-C-G c.990G>C p.L330F Missense 10/15 - 1
3-48209380-T-C c.985A>G p.I329V Missense 10/15 - 2
3-48209381-G-A c.984C>T p.N328= Synonymous 10/15 - 1
3-48209385-T-C c.980A>G p.E327G Missense 10/15 - 1
3-48209395-C-A c.970G>T p.G324* Nonsense 10/15 - 1
3-48209397-T-C c.968A>G p.K323R Missense 10/15 - 2
3-48209403-GA-TG c.961_962delinsCA p.S321H Missense 10/15 - 1
3-48209405-A-G c.960T>C p.S320= Synonymous 10/15 - 1
3-48209409-G-A c.956C>T p.A319V Missense 10/15 - 1
3-48209413-G-T c.952C>A p.L318M Missense 10/15 - 2
3-48209414-G-A c.951C>T p.S317= Synonymous 10/15 - 1
3-48209414-G-C c.951C>G p.S317= Synonymous 10/15 - 1
3-48209414-G-T c.951C>A p.S317= Synonymous 10/15 - 1
3-48209415-G-A c.950C>T p.S317F Missense 10/15 - 1
3-48209415-G-C c.950C>G p.S317C Missense 10/15 - 1
3-48209415-G-T c.950C>A p.S317Y Missense 10/15 - 1
3-48209416-A-C c.949T>G p.S317A Missense 10/15 - 2
3-48209419-A-C c.946T>G p.L316V Missense 10/15 - 1
3-48209420-A-G c.945T>C p.S315= Synonymous 10/15 - 1
3-48209421-G-C c.944C>G p.S315C Missense 10/15 - 1
3-48209423-C-T c.942G>A p.Q314= Synonymous 10/15 - 2
3-48209425-G-A c.940C>T p.Q314* Nonsense 10/15 - 2
3-48209427-T-C c.938A>G p.H313R Missense 10/15 - 1
3-48209432-A-C c.933T>G p.T311= Synonymous 10/15 - 1
3-48209432-A-G c.933T>C p.T311= Synonymous 10/15 - 1
3-48209432-A-T c.933T>A p.T311= Synonymous 10/15 - 1
3-48209486-C-T c.931-52G>A - IntronicSNV - 9/14 6
3-48210465-G-A c.931-1031C>T - IntronicSNV - 9/14 1
3-48215253-G-A c.930+521C>T - IntronicSNV - 9/14 2
3-48215641-C-A c.930+133G>T - IntronicSNV - 9/14 1
3-48215641-C-G c.930+133G>C - IntronicSNV - 9/14 1
3-48215641-C-T c.930+133G>A - IntronicSNV - 9/14 1
3-48215668-C-A c.930+106G>T - IntronicSNV - 9/14 1
3-48215776-C-T c.928G>A p.E310K Missense 9/15 - 1
3-48215781-G-A c.923C>T p.A308V Missense 9/15 - 1
3-48215787-T-G c.917A>C p.E306A Missense 9/15 - 1
3-48215788-C-G c.916G>C p.E306Q Missense 9/15 - 2
3-48215790-G-A c.914C>T p.P305L Missense 9/15 - 1
3-48215803-C-A c.901G>T p.E301* Nonsense 9/15 - 1
3-48215808-G-C c.896C>G p.P299R Missense 9/15 - 1
3-48215809-G-A c.895C>T p.P299S Missense 9/15 - 1
3-48215829-TT-GC c.874_875delinsGC p.K292A Missense 9/15 - 1
3-48215834-CCT-ACA c.868_870delinsTGT p.R290C Missense 9/15 - 1
3-48215837-CT-GA c.866_867delinsTC p.K289I Missense 9/15 - 1
3-48215838-T-G c.866A>C p.K289T Missense 9/15 - 1
3-48215841-G-A c.863C>T p.T288I Missense 9/15 - 1
3-48215842-T-C c.862A>G p.T288A Missense 9/15 - 1
3-48215844-C-T c.860G>A p.S287N Missense 9/15 - 1
3-48215844-CT-GC c.859_860delinsGC p.S287A Missense 9/15 - 1
3-48215845-T-TA c.858_859insT p.S287* Nonsense 9/15 - 1
3-48215846-TCC-GCT c.856_858delinsAGC p.G286S Missense 9/15 - 1
3-48215850-G-T c.854C>A p.P285H Missense 9/15 - 1
3-48215853-G-A c.851C>T p.P284L Missense 9/15 - 1
3-48215854-G-T c.850C>A p.P284T Missense 9/15 - 3
3-48215857-A-C c.847T>G p.S283A Missense 9/15 - 1
3-48215858-C-T c.846G>A p.E282= Synonymous 9/15 - 1
3-48215869-A-C c.835T>G p.S279A Missense 9/15 - 1
3-48215870-TC-AT c.833_834delinsAT p.R278H Missense 9/15 - 1
3-48215871-C-T c.833G>A p.R278Q Missense 9/15 - 1
3-48215875-C-G c.829G>C p.E277Q Missense 9/15 - 1
3-48215877-G-A c.827C>T p.P276L Missense 9/15 - 1
3-48215880-C-T c.824G>A p.R275K Missense 9/15 - 2
3-48215894-CC-AT c.809_810delinsAT p.R270H Missense 9/15 - 2
3-48215895-C-G c.809G>C p.R270P Missense 9/15 - 3
3-48215906-G-C c.798C>G p.S266R Missense 9/15 - 1
3-48215906-G-T c.798C>A p.S266R Missense 9/15 - 1
3-48215908-T-G c.796A>C p.S266R Missense 9/15 - 1
3-48215915-G-A c.789C>T p.S263= Synonymous 9/15 - 3
3-48215916-G-A c.788C>T p.S263F Missense 9/15 - 2
3-48215916-GA-TT c.787_788delinsAA p.S263N Missense 9/15 - 1
3-48215922-G-A c.782C>T p.S261F Missense 9/15 - 1
3-48215922-GA-CG c.781_782delinsCG p.S261R Missense 9/15 - 1
3-48215928-A-T c.776T>A p.F259Y Missense 9/15 - 1
3-48215937-C-G c.767G>C p.C256S Missense 9/15 - 2
3-48215938-A-T c.766T>A p.C256S Missense 9/15 - 1
3-48215940-C-T c.764G>A p.R255Q Missense 9/15 - 2
3-48215944-T-A c.760A>T p.N254Y Missense 9/15 - 4
3-48215946-T-C c.758A>G p.D253G Missense 9/15 - 2
3-48215947-C-G c.757G>C p.D253H Missense 9/15 - 1
3-48218859-A-C c.756+2T>G - IntronicSNV - 8/14 2
3-48218864-G-A c.753C>T p.N251= Synonymous 8/15 - 1
3-48218867-TGTA-T c.747_749del p.T250del InFrameDeletion 8/15 - 1
3-48218873-T-C c.744A>G p.R248= Synonymous 8/15 - 1
3-48218875-T-G c.742A>C p.R248= Synonymous 8/15 - 1
3-48218876-C-T c.741G>A p.M247I Missense 8/15 - 1
3-48218878-T-C c.739A>G p.M247V Missense 8/15 - 1
3-48218879-G-A c.738C>T p.V246= Synonymous 8/15 - 1
3-48218881-C-G c.736G>C p.V246L Missense 8/15 - 1
3-48218891-TG-CA c.725_726inv p.T242M Missense 8/15 - 1
3-48218892-G-A c.725C>T p.T242I Missense 8/15 - 1
3-48218905-C-T c.712G>A p.A238T Missense 8/15 - 3
3-48218906-C-A c.711G>T p.M237I Missense 8/15 - 1
3-48218906-C-G c.711G>C p.M237I Missense 8/15 - 1
3-48218906-C-T c.711G>A p.M237I Missense 8/15 - 1
3-48218909-G-A c.708C>T p.C236= Synonymous 8/15 - 1
3-48218910-C-T c.707G>A p.C236Y Missense 8/15 - 1
3-48218912-C-A c.705G>T p.S235= Synonymous 8/15 - 1
3-48218912-C-G c.705G>C p.S235= Synonymous 8/15 - 1
3-48218912-C-T c.705G>A p.S235= Synonymous 8/15 - 1
3-48218913-G-A c.704C>T p.S235L Missense 8/15 - 1
3-48218920-T-G c.697A>C p.T233P Missense 8/15 - 1
3-48218926-C-T c.691G>A p.E231K Missense 8/15 - 1
3-48219246-G-A c.684+98C>T - IntronicSNV - 7/14 1
3-48219322-C-CAT c.684+21_684+22insAT - IntronicInsertion - 7/14 1
3-48219320-AACAC-A c.684+20_684+23del - IntronicDeletion - 7/14 1
3-48219320-AAC-A c.684+22_684+23del - IntronicDeletion - 7/14 2
3-48219338-ACG-A c.684+5_684+6del - IntronicDeletion - 7/14 1
3-48219347-C-G c.681G>C p.L227= Synonymous 7/15 - 1
3-48219355-C-G c.673G>C p.E225Q Missense 7/15 - 1
3-48219355-C-T c.673G>A p.E225K Missense 7/15 - 1
3-48219357-C-T c.671G>A p.G224E Missense 7/15 - 2
3-48219361-C-A c.667G>T p.D223Y Missense 7/15 - 1
3-48219361-C-T c.667G>A p.D223N Missense 7/15 - 7
3-48219368-G-A c.660C>T p.D220= Synonymous 7/15 - 1
3-48219369-T-G c.659A>C p.D220A Missense 7/15 - 1
3-48219370-C-A c.658G>T p.D220Y Missense 7/15 - 1
3-48219374-G-A c.654C>T p.F218= Synonymous 7/15 - 8
3-48219376-A-G c.652T>C p.F218L Missense 7/15 - 1
3-48219376-A-T c.652T>A p.F218I Missense 7/15 - 5
3-48219379-C-T c.649G>A p.G217S Missense 7/15 - 1
3-48219386-C-A c.642G>T p.E214D Missense 7/15 - 1
3-48219386-C-G c.642G>C p.E214D Missense 7/15 - 1
3-48219386-C-T c.642G>A p.E214= Synonymous 7/15 - 1
3-48219390-T-C c.638A>G p.D213G Missense 7/15 - 1
3-48219395-C-A c.633G>T p.L211F Missense 7/15 - 1
3-48219395-C-G c.633G>C p.L211F Missense 7/15 - 1
3-48219403-C-A c.625G>T p.A209S Missense 7/15 - 1
3-48219406-T-C c.622A>G p.T208A Missense 7/15 - 1
3-48219406-T-G c.622A>C p.T208P Missense 7/15 - 1
3-48219413-TGA-CAT c.613_615delinsATG p.S205M Missense 7/15 - 1
3-48219414-G-T c.614C>A p.S205* Nonsense 7/15 - 1
3-48219422-T-G c.606A>C p.T202= Synonymous 7/15 - 1
3-48219423-G-A c.605C>T p.T202I Missense 7/15 - 1
3-48219426-A-C c.602T>G p.F201C Missense 7/15 - 1
3-48219426-A-G c.602T>C p.F201S Missense 7/15 - 1
3-48219425-A-C c.603T>G p.F201L Missense 7/15 - 1
3-48219425-A-T c.603T>A p.F201L Missense 7/15 - 1
3-48219427-A-C c.601T>G p.F201V Missense 7/15 - 1
3-48219427-A-G c.601T>C p.F201L Missense 7/15 - 1
3-48219430-G-A c.598C>T p.L200F Missense 7/15 - 1
3-48219432-G-A c.596C>T p.P199L Missense 7/15 - 1
3-48219433-G-A c.595C>T p.P199S Missense 7/15 - 1
3-48219437-G-A c.591C>T p.F197= Synonymous 7/15 - 4
3-48219440-A-C c.588T>G p.N196K Missense 7/15 - 1
3-48219440-A-T c.588T>A p.N196K Missense 7/15 - 1
3-48219442-T-C c.586A>G p.N196D Missense 7/15 - 1
3-48219444-CC-TA c.583_584delinsTA p.G195* Nonsense 7/15 - 1
3-48219458-A-G c.570T>C p.D190= Synonymous 7/15 - 1
3-48219460-C-T c.568G>A p.D190N Missense 7/15 - 1
3-48219462-C-A c.566G>T p.R189I Missense 7/15 - 2
3-48219462-C-G c.566G>C p.R189T Missense 7/15 - 1
3-48219470-TGA-GTT c.556_558delinsAAC p.S186N Missense 7/15 - 1
3-48219472-A-C c.556T>G p.S186A Missense 7/15 - 1
3-48219537-A-G c.550-59T>C - IntronicSNV - 6/14 3
3-48222209-A-G c.549+2T>C - IntronicSNV - 6/14 1
3-48222216-G-A c.544C>T p.R182W Missense 6/15 - 3
3-48222216-G-C c.544C>G p.R182G Missense 6/15 - 3
3-48222226-AGA-CTC c.532_534delinsGAG p.S178E Missense 6/15 - 1
3-48222228-A-C c.532T>G p.S178A Missense 6/15 - 1
3-48222235-CCT-ATG c.523_525delinsCAT p.R175H Missense 6/15 - 1
3-48222235-C-T c.525G>A p.R175= Synonymous 6/15 - 1
3-48222237-T-G c.523A>C p.R175= Synonymous 6/15 - 1
3-48222240-G-C c.520C>G p.Q174E Missense 6/15 - 1
3-48222250-A-G c.510T>C p.D170= Synonymous 6/15 - 1
3-48222253-TT-GC c.506_507delinsGC p.K169S Missense 6/15 - 1
3-48222254-T-C c.506A>G p.K169R Missense 6/15 - 1
3-48222256-A-C c.504T>G p.G168= Synonymous 6/15 - 2
3-48222256-A-G c.504T>C p.G168= Synonymous 6/15 - 2
3-48222256-A-T c.504T>A p.G168= Synonymous 6/15 - 2
3-48222259-C-A c.501G>T p.E167D Missense 6/15 - 1
3-48222259-C-G c.501G>C p.E167D Missense 6/15 - 5
3-48222260-T-G c.500A>C p.E167A Missense 6/15 - 1
3-48222262-C-A c.498G>T p.Q166H Missense 6/15 - 1
3-48222262-C-G c.498G>C p.Q166H Missense 6/15 - 1
3-48222272-TG-GC c.487_488delinsGC p.H163A Missense 6/15 - 1
3-48222275-G-A c.485C>T p.S162F Missense 6/15 - 1
3-48222275-G-C c.485C>G p.S162C Missense 6/15 - 1
3-48222284-C-T c.476G>A p.C159Y Missense 6/15 - 2
3-48222290-C-T c.470G>A p.R157H Missense 6/15 - 2
3-48222298-A-C c.462T>G p.P154= Synonymous 6/15 - 2
3-48222298-A-G c.462T>C p.P154= Synonymous 6/15 - 2
3-48222298-A-T c.462T>A p.P154= Synonymous 6/15 - 2
3-48222299-G-T c.461C>A p.P154H Missense 6/15 - 1
3-48222301-TCT-ATG c.457_459delinsCAT p.R153H Missense 6/15 - 1
3-48222306-C-T c.454G>A p.V152I Missense 6/15 - 1
3-48222310-C-T c.450G>A p.K150= Synonymous 6/15 - 1
3-48222311-T-C c.449A>G p.K150R Missense 6/15 - 2
3-48222317-A-G c.443T>C p.F148S Missense 6/15 - 1
3-48222316-A-C c.444T>G p.F148L Missense 6/15 - 3
3-48222316-A-T c.444T>A p.F148L Missense 6/15 - 3
3-48222318-A-G c.442T>C p.F148L Missense 6/15 - 3
3-48222330-C-G c.430G>C p.E144Q Missense 6/15 - 1
3-48222353-C-T c.430-23G>A - IntronicSNV - 5/14 1
3-48224363-T-C c.429+56A>G - IntronicSNV - 5/14 1
3-48224419-A-C c.429T>G p.N143K Missense 5/15 - 1
3-48224419-A-T c.429T>A p.N143K Missense 5/15 - 1
3-48224421-T-C c.427A>G p.N143D Missense 5/15 - 1
3-48224424-C-T c.424G>A p.E142K Missense 5/15 - 1
3-48224426-T-C c.422A>G p.K141R Missense 5/15 - 1
3-48224426-T-G c.422A>C p.K141T Missense 5/15 - 1
3-48224431-C-A c.417G>T p.E139D Missense 5/15 - 2
3-48224431-C-G c.417G>C p.E139D Missense 5/15 - 2
3-48224441-T-A c.407A>T p.D136V Missense 5/15 - 1
3-48224443-G-A c.405C>T p.I135= Synonymous 5/15 - 1
3-48224443-G-T c.405C>A p.I135= Synonymous 5/15 - 1
3-48224455-G-A c.393C>T p.I131= Synonymous 5/15 - 1
3-48224457-T-C c.391A>G p.I131V Missense 5/15 - 2
3-48224459-TC-AT c.388_389delinsAT p.D130I Missense 5/15 - 1
3-48224469-G-C c.379C>G p.L127V Missense 5/15 - 1
3-48224478-A-C c.370T>G p.S124A Missense 5/15 - 2
3-48224480-T-C c.368A>G p.H123R Missense 5/15 - 1
3-48224482-G-C c.366C>G p.S122R Missense 5/15 - 1
3-48224482-G-T c.366C>A p.S122R Missense 5/15 - 1
3-48224484-T-G c.364A>C p.S122R Missense 5/15 - 1
3-48224485-C-A c.363G>T p.R121S Missense 5/15 - 6
3-48224485-C-G c.363G>C p.R121S Missense 5/15 - 8
3-48224488-C-G c.360G>C p.K120N Missense 5/15 - 1
3-48224498-G-A c.350C>T p.P117L Missense 5/15 - 1
3-48224500-A-G c.348T>C p.S116= Synonymous 5/15 - 1
3-48224509-C-A c.339G>T p.L113F Missense 5/15 - 2
3-48224509-C-G c.339G>C p.L113F Missense 5/15 - 2
3-48224513-AG-GA c.334_335delinsTC p.L112S Missense 5/15 - 1
3-48224517-TCTG-T c.328_330del p.Q110del InFrameDeletion 5/15 4/14 4
3-48225291-G-A c.326C>T p.P109L Missense 4/15 - 1
3-48225292-G-A c.325C>T p.P109S Missense 4/15 - 1
3-48225299-A-G c.318T>C p.H106= Synonymous 4/15 - 1
3-48225309-C-A c.308G>T p.R103I Missense 4/15 - 1
3-48225316-G-A c.301C>T p.P101S Missense 4/15 - 1
3-48225509-T-C c.291-183A>G - IntronicSNV - 3/14 1
3-48226146-T-A c.287A>T p.E96V Missense 3/15 - 1
3-48226147-C-A c.286G>T p.E96* Nonsense 3/15 - 1
3-48226151-A-T c.282T>A p.S94R Missense 3/15 - 1
3-48226152-CT-GC c.280_281delinsGC p.S94A Missense 3/15 - 2
3-48226153-T-A c.280A>T p.S94C Missense 3/15 - 1
3-48226154-G-A c.279C>T p.D93= Synonymous 3/15 - 1
3-48226155-T-A c.278A>T p.D93V Missense 3/15 - 1
3-48226161-G-T c.272C>A p.P91Q Missense 3/15 - 1
3-48226162-G-A c.271C>T p.P91S Missense 3/15 - 3
3-48226163-C-A c.270G>T p.G90= Synonymous 3/15 - 1
3-48226163-C-G c.270G>C p.G90= Synonymous 3/15 - 1
3-48226163-C-T c.270G>A p.G90= Synonymous 3/15 - 1
3-48226166-AG-TT c.266_267delinsAA p.P89Q Missense 3/15 - 1
3-48226167-G-A c.266C>T p.P89L Missense 3/15 - 4
3-48226170-G-A c.263C>T p.S88F Missense 3/15 - 10
3-48226174-C-A c.259G>T p.D87Y Missense 3/15 - 3
3-48226174-C-G c.259G>C p.D87H Missense 3/15 - 1
3-48226176-A-T c.257T>A p.L86Q Missense 3/15 - 1
3-48226181-GAA-CTC c.250_252delinsGAG p.F84E Missense 3/15 - 1
3-48228059-CAAA-C c.247+131_247+133del - IntronicDeletion - 2/14 1
3-48228059-CAA-C c.247+132_247+133del - IntronicDeletion - 2/14 1
3-48228059-CA-C c.247+133del - IntronicDeletion - 2/14 2
3-48228124-A-G c.247+69T>C - IntronicSNV - 2/14 1
3-48228195-G-C c.245C>G p.S82* Nonsense 2/15 - 1
3-48228196-A-C c.244T>G p.S82A Missense 2/15 - 3
3-48228198-T-A c.242A>T p.D81V Missense 2/15 - 1
3-48228202-T-C c.238A>G p.T80A Missense 2/15 - 2
3-48228205-A-C c.235T>G p.S79A Missense 2/15 - 1
3-48228208-C-A c.232G>T p.E78* Nonsense 2/15 - 1
3-48228208-C-T c.232G>A p.E78K Missense 2/15 - 1
3-48228209-G-A c.231C>T p.S77= Synonymous 2/15 - 1
3-48228209-G-C c.231C>G p.S77= Synonymous 2/15 - 1
3-48228209-G-T c.231C>A p.S77= Synonymous 2/15 - 1
3-48228212-G-A c.228C>T p.S76= Synonymous 2/15 - 5
3-48228212-G-C c.228C>G p.S76= Synonymous 2/15 - 1
3-48228212-G-T c.228C>A p.S76= Synonymous 2/15 - 1
3-48228213-G-A c.227C>T p.S76F Missense 2/15 - 1
3-48228214-A-C c.226T>G p.S76A Missense 2/15 - 6
3-48228216-C-A c.224G>T p.G75V Missense 2/15 - 1
3-48228222-C-T c.218G>A p.R73K Missense 2/15 - 2
3-48228227-C-A c.213G>T p.L71= Synonymous 2/15 - 1
3-48228227-C-G c.213G>C p.L71= Synonymous 2/15 - 1
3-48228227-C-T c.213G>A p.L71= Synonymous 2/15 - 2
3-48228229-G-A c.211C>T p.L71= Synonymous 2/15 - 1
3-48228234-C-G c.206G>C p.S69T Missense 2/15 - 3
3-48228235-T-C c.205A>G p.S69G Missense 2/15 - 2
3-48228244-T-C c.196A>G p.K66E Missense 2/15 - 1
3-48228245-C-A c.195G>T p.V65= Synonymous 2/15 - 1
3-48228245-C-G c.195G>C p.V65= Synonymous 2/15 - 1
3-48228245-C-T c.195G>A p.V65= Synonymous 2/15 - 2
3-48228250-C-T c.190G>A p.E64K Missense 2/15 - 1
3-48228256-G-A c.184C>T p.P62S Missense 2/15 - 1
3-48228256-G-C c.184C>G p.P62A Missense 2/15 - 1
3-48228257-T-A c.183A>T p.Q61H Missense 2/15 - 1
3-48228257-T-G c.183A>C p.Q61H Missense 2/15 - 1
3-48228258-T-A c.182A>T p.Q61L Missense 2/15 - 1
3-48228261-T-G c.179A>C p.E60A Missense 2/15 - 1
3-48228264-T-A c.176A>T p.Y59F Missense 2/15 - 1
3-48229111-C-A c.170+157G>T - IntronicSNV - 1/14 1
3-48229268-CT-AA c.169_170delinsTT p.S57F Missense 1/15 - 1
3-48229274-A-G c.164T>C p.L55P Missense 1/15 - 1
3-48229281-G-C c.157C>G p.Q53E Missense 1/15 - 1
3-48229287-G-T c.151C>A p.Q51K Missense 1/15 - 1
3-48229299-ACGG-A c.137_139del p.T46_V47delinsI MultiAAMissense 1/15 - 1
3-48229303-C-G c.135G>C p.L45= Synonymous 1/15 - 1
3-48229311-T-C c.127A>G p.T43A Missense 1/15 - 1
3-48229313-A-G c.125T>C p.V42A Missense 1/15 - 1
3-48229320-A-G c.118T>C p.S40P Missense 1/15 - 1
3-48229320-A-T c.118T>A p.S40T Missense 1/15 - 1
3-48229327-CC-GT c.110_111delinsAC p.G37D Missense 1/15 - 1
3-48229328-C-A c.110G>T p.G37V Missense 1/15 - 2
3-48229328-CC-AG c.109_110delinsCT p.G37L Missense 1/15 - 1
3-48229328-C-G c.110G>C p.G37A Missense 1/15 - 1
3-48229329-C-A c.109G>T p.G37W Missense 1/15 - 1
3-48229329-C-T c.109G>A p.G37R Missense 1/15 - 1
3-48229331-GC-AA c.106_107delinsTT p.A36F Missense 1/15 - 1
3-48229331-G-T c.107C>A p.A36D Missense 1/15 - 1
3-48229343-C-T c.95G>A p.G32D Missense 1/15 - 1
3-48229349-A-G c.89T>C p.L30P Missense 1/15 - 1
3-48229351-CG-GT c.86_87delinsAC p.A29D Missense 1/15 - 1
3-48229352-GC-AG c.85_86delinsCT p.A29L Missense 1/15 - 2
3-48229352-GC-AT c.85_86delinsAT p.A29M Missense 1/15 - 2
3-48229353-C-A c.85G>T p.A29S Missense 1/15 - 1
3-48229355-T-A c.83A>T p.K28M Missense 1/15 - 1
3-48229358-A-C c.80T>G p.V27G Missense 1/15 - 1
3-48229360-G-C c.78C>G p.V26= Synonymous 1/15 - 1
3-48229361-AC-GT c.76_77inv p.V26T Missense 1/15 - 1
3-48229366-C-A c.72G>T p.Q24H Missense 1/15 - 12
3-48229366-C-G c.72G>C p.Q24H Missense 1/15 - 1
3-48229366-C-T c.72G>A p.Q24= Synonymous 1/15 - 4
3-48229367-T-C c.71A>G p.Q24R Missense 1/15 - 1
3-48229368-G-C c.70C>G p.Q24E Missense 1/15 - 1
3-48229369-CG-AT c.68_69delinsAT p.S23Y Missense 1/15 - 1
3-48229370-G-T c.68C>A p.S23* Nonsense 1/15 - 3
3-48229371-A-G c.67T>C p.S23P Missense 1/15 - 1
3-48229374-C-G c.64G>C p.A22P Missense 1/15 - 1
3-48229375-G-A c.63C>T p.P21= Synonymous 1/15 - 1
3-48229375-G-C c.63C>G p.P21= Synonymous 1/15 - 1
3-48229375-GGG-TTA c.61_63delinsTAA p.P21* Nonsense 1/15 - 1
3-48229375-G-T c.63C>A p.P21= Synonymous 1/15 - 1
3-48229376-G-A c.62C>T p.P21L Missense 1/15 - 1
3-48229377-G-C c.61C>G p.P21A Missense 1/15 - 1
3-48229377-G-T c.61C>A p.P21T Missense 1/15 - 1
3-48229379-G-A c.59C>T p.P20L Missense 1/15 - 1
3-48229380-G-A c.58C>T p.P20S Missense 1/15 - 1
3-48229380-G-C c.58C>G p.P20A Missense 1/15 - 1
3-48229380-G-T c.58C>A p.P20T Missense 1/15 - 3
3-48229382-G-A c.56C>T p.P19L Missense 1/15 - 2
3-48229386-T-A c.52A>T p.S18C Missense 1/15 - 2
3-48229388-C-A c.50G>T p.C17F Missense 1/15 - 1
3-48229388-CA-TG c.49_50inv p.C17H Missense 1/15 - 1
3-48229390-GGC-CCA c.46_48delinsTGG p.A16W Missense 1/15 - 1
3-48229390-GG-CT c.47_48delinsAG p.A16E Missense 1/15 - 1
3-48229390-GGC-TTA c.46_48delinsTAA p.A16* Nonsense 1/15 - 2
3-48229390-GGC-TTG c.46_48delinsCAA p.A16Q Missense 1/15 - 1
3-48229391-GC-AA c.46_47delinsTT p.A16F Missense 1/15 - 1
3-48229391-GC-CG c.46_47delinsCG p.A16R Missense 1/15 - 1
3-48229391-GC-TA c.46_47delinsTA p.A16Y Missense 1/15 - 2
3-48229398-G-A c.40C>T p.L14F Missense 1/15 - 2
3-48229403-C-T c.35G>A p.R12H Missense 1/15 - 1
3-48229408-G-A c.30C>T p.R10= Synonymous 1/15 - 1
3-48229408-G-C c.30C>G p.R10= Synonymous 1/15 - 1
3-48229408-G-T c.30C>A p.R10= Synonymous 1/15 - 1
3-48229409-C-T c.29G>A p.R10H Missense 1/15 - 3
3-48229412-T-G c.26A>C p.H9P Missense 1/15 - 1
3-48229414-C-A c.24G>T p.P8= Synonymous 1/15 - 1
3-48229418-G-A c.20C>T p.P7L Missense 1/15 - 1
3-48229432-T-C c.6A>G p.E2= Synonymous 1/15 - 2
3-48229624-C-T c.-187G>A - 5-UTRSNV 1/15 - 3