CLIP3

CLIP3 CAP-Gly domain containing linker protein 3

Annotation transcript: NM_015526.3

509 unique variant annotations were identified in 215 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
19-36507064-G-T c.1640C>A p.S547Y Missense 14/14 - 1
19-36507074-C-T c.1630G>A p.E544K Missense 14/14 - 3
19-36507075-C-A c.1629G>T p.A543= Synonymous 14/14 - 1
19-36507075-C-G c.1629G>C p.A543= Synonymous 14/14 - 1
19-36507075-C-T c.1629G>A p.A543= Synonymous 14/14 - 2
19-36507076-G-A c.1628C>T p.A543V Missense 14/14 - 7
19-36507078-C-A c.1626G>T p.R542S Missense 14/14 - 1
19-36507079-C-G c.1625G>C p.R542T Missense 14/14 - 2
19-36507110-G-T c.1594C>A p.L532M Missense 14/14 - 1
19-36507767-C-G c.1589+42G>C - IntronicSNV - 13/13 2
19-36507823-C-A c.1575G>T p.E525D Missense 13/14 - 1
19-36507823-C-T c.1575G>A p.E525= Synonymous 13/14 - 1
19-36507825-C-G c.1573G>C p.E525Q Missense 13/14 - 1
19-36507830-G-A c.1568C>T p.A523V Missense 13/14 - 1
19-36507831-C-T c.1567G>A p.A523T Missense 13/14 - 1
19-36507833-A-T c.1565T>A p.I522N Missense 13/14 - 1
19-36507838-C-T c.1560G>A p.K520= Synonymous 13/14 - 3
19-36507839-T-C c.1559A>G p.K520R Missense 13/14 - 1
19-36507845-G-A c.1553C>T p.T518I Missense 13/14 - 1
19-36507845-G-C c.1553C>G p.T518S Missense 13/14 - 1
19-36507848-C-T c.1550G>A p.R517Q Missense 13/14 - 3
19-36507849-G-T c.1549C>A p.R517= Synonymous 13/14 - 1
19-36507855-T-C c.1543A>G p.T515A Missense 13/14 - 2
19-36507860-A-C c.1538T>G p.F513C Missense 13/14 - 1
19-36507866-C-T c.1532G>A p.R511H Missense 13/14 - 3
19-36507867-G-A c.1531C>T p.R511C Missense 13/14 - 1
19-36507877-C-A c.1521G>T p.T507= Synonymous 13/14 - 1
19-36507877-C-G c.1521G>C p.T507= Synonymous 13/14 - 1
19-36507877-C-T c.1521G>A p.T507= Synonymous 13/14 - 2
19-36508284-T-C c.1516+4A>G - IntronicSNV - 12/13 1
19-36508297-G-T c.1507C>A p.Q503K Missense 12/14 - 1
19-36508303-AC-A c.1501del p.V501Cfs*4 Frameshift 12/14 - 1
19-36508303-C-T c.1501G>A p.V501M Missense 12/14 - 2
19-36508308-T-G c.1496A>C p.K499T Missense 12/14 - 1
19-36508303-C-CT c.1500dup p.V501Sfs*54 Frameshift 12/14 - 1
19-36508303-CT-C c.1500del p.V501Cfs*4 Frameshift 12/14 - 2
19-36508317-A-G c.1487T>C p.V496A Missense 12/14 - 1
19-36508319-G-A c.1485C>T p.S495= Synonymous 12/14 - 1
19-36508324-C-T c.1480G>A p.D494N Missense 12/14 - 2
19-36508327-C-G c.1477G>C p.G493R Missense 12/14 - 1
19-36508327-C-T c.1477G>A p.G493R Missense 12/14 - 1
19-36508328-G-A c.1476C>T p.P492= Synonymous 12/14 - 1
19-36508329-G-T c.1475C>A p.P492H Missense 12/14 - 2
19-36508331-G-A c.1473C>T p.S491= Synonymous 12/14 - 1
19-36508332-G-A c.1472C>T p.S491F Missense 12/14 - 1
19-36508332-G-T c.1472C>A p.S491Y Missense 12/14 - 1
19-36508333-A-G c.1471T>C p.S491P Missense 12/14 - 1
19-36508345-C-A c.1459G>T p.G487* Nonsense 12/14 - 2
19-36508346-G-A c.1458C>T p.G486= Synonymous 12/14 - 3
19-36508346-G-C c.1458C>G p.G486= Synonymous 12/14 - 1
19-36508346-G-T c.1458C>A p.G486= Synonymous 12/14 - 1
19-36508392-A-G c.1452-40T>C - IntronicSNV - 11/13 8
19-36508561-G-A c.1447C>T p.Q483* Nonsense 11/14 - 1
19-36508565-A-C c.1443T>G p.R481= Synonymous 11/14 - 1
19-36508565-A-G c.1443T>C p.R481= Synonymous 11/14 - 1
19-36508565-A-T c.1443T>A p.R481= Synonymous 11/14 - 1
19-36508566-C-A c.1442G>T p.R481L Missense 11/14 - 1
19-36508566-C-T c.1442G>A p.R481H Missense 11/14 - 1
19-36508567-G-A c.1441C>T p.R481C Missense 11/14 - 1
19-36508569-G-C c.1439C>G p.S480C Missense 11/14 - 2
19-36508575-G-T c.1433C>A p.P478Q Missense 11/14 - 1
19-36508576-G-A c.1432C>T p.P478S Missense 11/14 - 1
19-36508576-G-T c.1432C>A p.P478T Missense 11/14 - 1
19-36508579-C-T c.1429G>A p.A477T Missense 11/14 - 1
19-36508589-A-G c.1419T>C p.H473= Synonymous 11/14 - 1
19-36508592-CCT-ATG c.1414_1416delinsCAT p.R472H Missense 11/14 - 1
19-36508593-C-G c.1415G>C p.R472T Missense 11/14 - 1
19-36508596-G-A c.1412C>T p.P471L Missense 11/14 - 1
19-36508596-G-T c.1412C>A p.P471Q Missense 11/14 - 2
19-36508597-G-A c.1411C>T p.P471S Missense 11/14 - 1
19-36508598-G-T c.1410C>A p.P470= Synonymous 11/14 - 1
19-36508600-G-A c.1408C>T p.P470S Missense 11/14 - 1
19-36508595-C-CG c.1412dup p.R472Efs*19 Frameshift 11/14 - 1
19-36508605-G-A c.1403C>T p.T468I Missense 11/14 - 1
19-36508609-A-T c.1399T>A p.F467I Missense 11/14 - 1
19-36508614-C-T c.1394G>A p.R465Q Missense 11/14 - 1
19-36508615-G-A c.1393C>T p.R465W Missense 11/14 - 1
19-36508616-G-T c.1392C>A p.V464= Synonymous 11/14 - 1
19-36508620-C-T c.1388G>A p.G463D Missense 11/14 - 1
19-36508621-C-A c.1387G>T p.G463C Missense 11/14 - 1
19-36508621-C-T c.1387G>A p.G463S Missense 11/14 - 3
19-36508623-A-G c.1385T>C p.F462S Missense 11/14 - 1
19-36508629-G-A c.1379C>T p.S460F Missense 11/14 - 1
19-36508629-G-C c.1379C>G p.S460C Missense 11/14 - 1
19-36508639-G-A c.1369C>T p.H457Y Missense 11/14 - 1
19-36508668-C-A c.1340G>T p.G447V Missense 11/14 - 5
19-36508679-A-G c.1329T>C p.G443= Synonymous 11/14 - 1
19-36508751-T-A c.1326A>T p.P442= Synonymous 10/14 - 1
19-36508751-T-C c.1326A>G p.P442= Synonymous 10/14 - 2
19-36508751-T-G c.1326A>C p.P442= Synonymous 10/14 - 1
19-36508752-G-A c.1325C>T p.P442L Missense 10/14 - 1
19-36508753-G-A c.1324C>T p.P442S Missense 10/14 - 1
19-36508769-C-A c.1308G>T p.G436= Synonymous 10/14 - 1
19-36508769-C-G c.1308G>C p.G436= Synonymous 10/14 - 1
19-36508769-C-T c.1308G>A p.G436= Synonymous 10/14 - 2
19-36508771-C-T c.1306G>A p.G436R Missense 10/14 - 2
19-36508772-G-A c.1305C>T p.Y435= Synonymous 10/14 - 2
19-36508775-G-A c.1302C>T p.F434= Synonymous 10/14 - 1
19-36508777-A-G c.1300T>C p.F434L Missense 10/14 - 1
19-36508779-C-T c.1298G>A p.R433H Missense 10/14 - 4
19-36508780-G-A c.1297C>T p.R433C Missense 10/14 - 4
19-36508783-C-T c.1294G>A p.V432M Missense 10/14 - 5
19-36508788-C-G c.1289G>C p.G430A Missense 10/14 - 1
19-36508789-C-A c.1288G>T p.G430W Missense 10/14 - 1
19-36508798-G-T c.1279C>A p.Q427K Missense 10/14 - 1
19-36508803-G-A c.1274C>T p.A425V Missense 10/14 - 1
19-36508804-C-T c.1273G>A p.A425T Missense 10/14 - 5
19-36508810-G-A c.1267C>T p.L423F Missense 10/14 - 2
19-36508818-T-C c.1259A>G p.D420G Missense 10/14 - 1
19-36508835-G-A c.1242C>T p.A414= Synonymous 10/14 - 1
19-36508835-G-C c.1242C>G p.A414= Synonymous 10/14 - 1
19-36508835-G-T c.1242C>A p.A414= Synonymous 10/14 - 1
19-36508837-C-T c.1240G>A p.A414T Missense 10/14 - 5
19-36508845-C-T c.1232G>A p.R411H Missense 10/14 - 1
19-36508846-G-A c.1231C>T p.R411C Missense 10/14 - 3
19-36508857-C-A c.1220G>T p.S407I Missense 10/14 - 2
19-36508859-GC-CT c.1217_1218delinsAG p.G406E Missense 10/14 - 1
19-36508860-C-T c.1217G>A p.G406D Missense 10/14 - 1
19-36508864-G-C c.1213C>G p.L405V Missense 10/14 - 1
19-36508871-G-A c.1206C>T p.S402= Synonymous 10/14 - 1
19-36508881-GTCT-G c.1193_1195del p.K398del InFrameDeletion 10/14 - 1
19-36508893-C-A c.1184G>T p.G395V Missense 10/14 - 3
19-36509798-GA-G c.1183+2del - IntronicDeletion - 9/13 1
19-36509800-C-T c.1183G>A p.G395S Missense 9/14 - 1
19-36509810-C-T c.1173G>A p.R391= Synonymous 9/14 - 1
19-36509814-C-T c.1169G>A p.R390H Missense 9/14 - 2
19-36509815-G-A c.1168C>T p.R390C Missense 9/14 - 1
19-36509817-C-A c.1166G>T p.G389V Missense 9/14 - 1
19-36509824-C-T c.1159G>A p.G387S Missense 9/14 - 1
19-36509825-G-A c.1158C>T p.T386= Synonymous 9/14 - 1
19-36509825-G-C c.1158C>G p.T386= Synonymous 9/14 - 1
19-36509825-G-T c.1158C>A p.T386= Synonymous 9/14 - 1
19-36509828-G-A c.1155C>T p.V385= Synonymous 9/14 - 2
19-36509843-C-T c.1140G>A p.M380I Missense 9/14 - 2
19-36509847-C-T c.1136G>A p.R379Q Missense 9/14 - 5
19-36509848-G-A c.1135C>T p.R379W Missense 9/14 - 2
19-36509848-G-T c.1135C>A p.R379= Synonymous 9/14 - 1
19-36509852-G-A c.1131C>T p.T377= Synonymous 9/14 - 2
19-36509847-C-CG c.1135dup p.R379Pfs*34 Frameshift 9/14 - 1
19-36509854-T-G c.1129A>C p.T377P Missense 9/14 - 1
19-36509856-CG-TA c.1126_1127delinsTA p.R376* Nonsense 9/14 - 1
19-36509856-C-T c.1127G>A p.R376Q Missense 9/14 - 1
19-36509857-G-A c.1126C>T p.R376W Missense 9/14 - 2
19-36509861-T-A c.1122A>T p.T374= Synonymous 9/14 - 1
19-36509861-T-C c.1122A>G p.T374= Synonymous 9/14 - 2
19-36509861-T-G c.1122A>C p.T374= Synonymous 9/14 - 1
19-36509863-T-A c.1120A>T p.T374S Missense 9/14 - 1
19-36509863-T-G c.1120A>C p.T374P Missense 9/14 - 1
19-36509865-G-A c.1118C>T p.S373F Missense 9/14 - 1
19-36509866-A-C c.1117T>G p.S373A Missense 9/14 - 1
19-36509868-G-C c.1115C>G p.T372S Missense 9/14 - 1
19-36509869-T-A c.1114A>T p.T372S Missense 9/14 - 1
19-36509869-T-C c.1114A>G p.T372A Missense 9/14 - 1
19-36509869-T-G c.1114A>C p.T372P Missense 9/14 - 1
19-36509875-A-C c.1108T>G p.S370A Missense 9/14 - 1
19-36509877-G-A c.1106C>T p.S369F Missense 9/14 - 1
19-36509878-A-C c.1105T>G p.S369A Missense 9/14 - 1
19-36509878-GA-G c.1105del p.S369Pfs*136 Frameshift 9/14 - 2
19-36509883-G-A c.1100C>T p.P367L Missense 9/14 - 1
19-36509878-A-AG c.1104dup p.S369Lfs*44 Frameshift 9/14 - 1
19-36509878-AG-A c.1104del p.S369Pfs*136 Frameshift 9/14 - 2
19-36509887-C-T c.1096G>A p.A366T Missense 9/14 - 1
19-36509888-G-A c.1095C>T p.D365= Synonymous 9/14 - 1
19-36509891-C-A c.1092G>T p.V364= Synonymous 9/14 - 1
19-36509891-C-G c.1092G>C p.V364= Synonymous 9/14 - 1
19-36509891-C-T c.1092G>A p.V364= Synonymous 9/14 - 4
19-36509905-T-A c.1078A>T p.I360F Missense 9/14 - 2
19-36509906-C-T c.1077G>A p.K359= Synonymous 9/14 - 3
19-36509912-C-A c.1071G>T p.V357= Synonymous 9/14 - 2
19-36509912-C-G c.1071G>C p.V357= Synonymous 9/14 - 2
19-36509912-C-T c.1071G>A p.V357= Synonymous 9/14 - 2
19-36509914-C-T c.1069G>A p.V357M Missense 9/14 - 1
19-36509915-G-T c.1068C>A p.S356= Synonymous 9/14 - 1
19-36509916-G-A c.1067C>T p.S356F Missense 9/14 - 2
19-36509935-G-A c.1055-7C>T - IntronicSNV - 8/13 1
19-36509935-G-T c.1055-7C>A - IntronicSNV - 8/13 1
19-36510009-G-A c.1054+64C>T - IntronicSNV - 8/13 1
19-36510084-G-T c.1043C>A p.P348H Missense 8/14 - 2
19-36510100-G-A c.1027C>T p.R343W Missense 8/14 - 2
19-36510103-C-T c.1024G>A p.V342I Missense 8/14 - 1
19-36510107-C-T c.1020G>A p.G340= Synonymous 8/14 - 3
19-36510104-G-GC c.1022dup p.V342Rfs*71 Frameshift 8/14 - 1
19-36510111-A-T c.1016T>A p.V339D Missense 8/14 - 1
19-36510113-G-A c.1014C>T p.S338= Synonymous 8/14 - 1
19-36510118-C-G c.1009G>C p.G337R Missense 8/14 - 1
19-36510121-C-T c.1006G>A p.D336N Missense 8/14 - 1
19-36510122-G-A c.1005C>T p.N335= Synonymous 8/14 - 6
19-36510125-C-T c.1002G>A p.K334= Synonymous 8/14 - 1
19-36510139-C-T c.988G>A p.E330K Missense 8/14 - 1
19-36510140-G-A c.987C>T p.D329= Synonymous 8/14 - 3
19-36510142-C-T c.985G>A p.D329N Missense 8/14 - 2
19-36510148-C-T c.979G>A p.E327K Missense 8/14 - 3
19-36510151-C-T c.976G>A p.V326M Missense 8/14 - 1
19-36510152-G-A c.975C>T p.G325= Synonymous 8/14 - 2
19-36510161-C-A c.966G>T p.Q322H Missense 8/14 - 1
19-36510166-C-T c.961G>A p.G321S Missense 8/14 - 6
19-36510171-G-A c.956C>T p.A319V Missense 8/14 - 1
19-36510175-A-G c.952T>C p.F318L Missense 8/14 - 1
19-36510177-T-G c.950A>C p.E317A Missense 8/14 - 1
19-36510186-C-T c.941G>A p.G314E Missense 8/14 - 2
19-36510191-G-A c.936C>T p.F312= Synonymous 8/14 - 2
19-36510196-G-A c.931C>T p.R311W Missense 8/14 - 1
19-36510200-TG-CA c.926_927inv p.T309M Missense 8/14 - 1
19-36510204-C-T c.923G>A p.G308D Missense 8/14 - 2
19-36510206-C-T c.921G>A p.T307= Synonymous 8/14 - 1
19-36510207-G-A c.920C>T p.T307M Missense 8/14 - 1
19-36510227-C-T c.919-19G>A - IntronicSNV - 7/13 1
19-36510509-A-T c.919-301T>A - IntronicSNV - 7/13 1
19-36510587-T-C c.919-379A>G - IntronicSNV - 7/13 1
19-36515220-C-G c.918+78G>C - IntronicSNV - 7/13 1
19-36515220-C-T c.918+78G>A - IntronicSNV - 7/13 1
19-36515294-T-A c.918+4A>T - IntronicSNV - 7/13 1
19-36515299-T-A c.917A>T p.K306M Missense 7/14 - 1
19-36515302-T-A c.914A>T p.Q305L Missense 7/14 - 1
19-36515308-T-A c.908A>T p.D303V Missense 7/14 - 1
19-36515309-C-T c.907G>A p.D303N Missense 7/14 - 3
19-36515310-CAG-GAT c.904_906delinsATC p.L302I Missense 7/14 - 1
19-36515312-G-A c.904C>T p.L302= Synonymous 7/14 - 1
19-36515317-A-G c.899T>C p.V300A Missense 7/14 - 1
19-36515318-C-T c.898G>A p.V300M Missense 7/14 - 1
19-36515319-G-A c.897C>T p.R299= Synonymous 7/14 - 1
19-36515319-G-C c.897C>G p.R299= Synonymous 7/14 - 1
19-36515319-G-T c.897C>A p.R299= Synonymous 7/14 - 1
19-36515320-C-T c.896G>A p.R299H Missense 7/14 - 1
19-36515321-G-T c.895C>A p.R299S Missense 7/14 - 1
19-36515324-C-T c.892G>A p.D298N Missense 7/14 - 1
19-36515325-T-A c.891A>T p.G297= Synonymous 7/14 - 1
19-36515325-T-C c.891A>G p.G297= Synonymous 7/14 - 1
19-36515325-T-G c.891A>C p.G297= Synonymous 7/14 - 1
19-36515327-C-T c.889G>A p.G297R Missense 7/14 - 4
19-36515329-A-T c.887T>A p.L296Q Missense 7/14 - 1
19-36515332-C-T c.884G>A p.R295H Missense 7/14 - 3
19-36515333-G-A c.883C>T p.R295C Missense 7/14 - 1
19-36515333-G-T c.883C>A p.R295S Missense 7/14 - 1
19-36515334-C-G c.882G>C p.L294F Missense 7/14 - 2
19-36515335-A-C c.881T>G p.L294W Missense 7/14 - 1
19-36515334-C-T c.882G>A p.L294= Synonymous 7/14 - 1
19-36515336-A-G c.880T>C p.L294= Synonymous 7/14 - 1
19-36515338-C-T c.878G>A p.G293D Missense 7/14 - 1
19-36515342-G-T c.874C>A p.L292M Missense 7/14 - 1
19-36515346-G-C c.870C>G p.S290R Missense 7/14 - 2
19-36515346-G-T c.870C>A p.S290R Missense 7/14 - 3
19-36515348-T-G c.868A>C p.S290R Missense 7/14 - 2
19-36515354-T-A c.862A>T p.M288L Missense 7/14 - 4
19-36515354-T-G c.862A>C p.M288L Missense 7/14 - 10
19-36515355-G-A c.861C>T p.L287= Synonymous 7/14 - 3
19-36515355-G-C c.861C>G p.L287= Synonymous 7/14 - 4
19-36515355-G-T c.861C>A p.L287= Synonymous 7/14 - 1
19-36515356-A-G c.860T>C p.L287P Missense 7/14 - 4
19-36515358-A-C c.858T>G p.N286K Missense 7/14 - 1
19-36515358-A-T c.858T>A p.N286K Missense 7/14 - 1
19-36515359-T-C c.857A>G p.N286S Missense 7/14 - 1
19-36515361-G-T c.855C>A p.G285= Synonymous 7/14 - 1
19-36515370-G-A c.846C>T p.N282= Synonymous 7/14 - 2
19-36515375-C-G c.841G>C p.D281H Missense 7/14 - 1
19-36515379-G-A c.837C>T p.N279= Synonymous 7/14 - 2
19-36515382-G-A c.834C>T p.P278= Synonymous 7/14 - 1
19-36515382-G-C c.834C>G p.P278= Synonymous 7/14 - 1
19-36515382-G-T c.834C>A p.P278= Synonymous 7/14 - 1
19-36515388-C-A c.828G>T p.T276= Synonymous 7/14 - 1
19-36515392-A-T c.824T>A p.V275D Missense 7/14 - 1
19-36515403-G-A c.813C>T p.A271= Synonymous 7/14 - 1
19-36515405-C-T c.811G>A p.A271T Missense 7/14 - 7
19-36515406-G-A c.810C>T p.C270= Synonymous 7/14 - 2
19-36515422-G-T c.794C>A p.A265E Missense 7/14 - 2
19-36515437-G-A c.779C>T p.T260M Missense 7/14 - 1
19-36515439-CCG-ACA c.775_777delinsTGT p.R259C Missense 7/14 - 1
19-36515440-C-T c.776G>A p.R259Q Missense 7/14 - 1
19-36515448-C-A c.768G>T p.K256N Missense 7/14 - 1
19-36515451-G-A c.765C>T p.A255= Synonymous 7/14 - 1
19-36515451-G-C c.765C>G p.A255= Synonymous 7/14 - 1
19-36515451-G-T c.765C>A p.A255= Synonymous 7/14 - 1
19-36515452-G-C c.764C>G p.A255G Missense 7/14 - 1
19-36515454-C-A c.762G>T p.V254= Synonymous 7/14 - 3
19-36515454-C-G c.762G>C p.V254= Synonymous 7/14 - 2
19-36515454-C-T c.762G>A p.V254= Synonymous 7/14 - 3
19-36515456-C-A c.760G>T p.V254L Missense 7/14 - 2
19-36515456-C-G c.760G>C p.V254L Missense 7/14 - 2
19-36515457-C-A c.759G>T p.L253= Synonymous 7/14 - 2
19-36515457-C-G c.759G>C p.L253= Synonymous 7/14 - 3
19-36515457-C-T c.759G>A p.L253= Synonymous 7/14 - 2
19-36515459-G-A c.757C>T p.L253= Synonymous 7/14 - 2
19-36515458-A-G c.758T>C p.L253P Missense 7/14 - 2
19-36515462-C-A c.754G>T p.A252S Missense 7/14 - 2
19-36515462-C-T c.754G>A p.A252T Missense 7/14 - 2
19-36515464-G-A c.752C>T p.A251V Missense 7/14 - 1
19-36515467-T-C c.749A>G p.E250G Missense 7/14 - 1
19-36515468-C-A c.748G>T p.E250* Nonsense 7/14 - 1
19-36515468-C-T c.748G>A p.E250K Missense 7/14 - 4
19-36515470-G-T c.746C>A p.A249E Missense 7/14 - 2
19-36515479-A-G c.737T>C p.L246P Missense 7/14 - 2
19-36515484-C-A c.732G>T p.M244I Missense 7/14 - 1
19-36515484-C-G c.732G>C p.M244I Missense 7/14 - 1
19-36515484-C-T c.732G>A p.M244I Missense 7/14 - 1
19-36515491-A-G c.725T>C p.M242T Missense 7/14 - 1
19-36515492-T-C c.724A>G p.M242V Missense 7/14 - 1
19-36515498-C-A c.718G>T p.D240Y Missense 7/14 - 1
19-36515501-G-A c.715C>T p.P239S Missense 7/14 - 1
19-36515504-C-T c.712G>A p.V238I Missense 7/14 - 1
19-36515506-A-G c.710T>C p.V237A Missense 7/14 - 1
19-36515510-C-T c.706G>A p.E236K Missense 7/14 - 1
19-36515511-C-T c.705G>A p.A235= Synonymous 7/14 - 1
19-36515512-G-A c.704C>T p.A235V Missense 7/14 - 2
19-36515513-C-A c.703G>T p.A235S Missense 7/14 - 1
19-36515515-G-A c.701C>T p.P234L Missense 7/14 - 1
19-36515519-C-T c.697G>A p.V233M Missense 7/14 - 1
19-36515531-G-A c.685C>T p.R229* Nonsense 7/14 - 1
19-36515560-A-G c.682-26T>C - IntronicSNV - 6/13 6
19-36516492-CA-C c.681+556del - IntronicDeletion - 6/13 1
19-36517045-G-A c.681+4C>T - IntronicSNV - 6/13 1
19-36517050-C-A c.680G>T p.R227M Missense 6/14 - 1
19-36517056-G-A c.674C>T p.A225V Missense 6/14 - 2
19-36517066-C-T c.664G>A p.A222T Missense 6/14 - 2
19-36517070-G-A c.660C>T p.H220= Synonymous 6/14 - 2
19-36517074-CT-C c.656del p.E219Gfs*8 Frameshift 6/14 - 1
19-36517075-C-T c.655G>A p.E219K Missense 6/14 - 1
19-36517093-C-T c.637G>A p.A213T Missense 6/14 - 3
19-36517101-CA-GT c.628_629delinsAC p.C210T Missense 6/14 - 1
19-36517100-GCA-G c.628_629del p.C210Pfs*71 Frameshift 6/14 - 1
19-36517112-AGC-CTT c.616_618delinsAAG p.A206K Missense 6/14 - 1
19-36517117-C-T c.613G>A p.A205T Missense 6/14 - 1
19-36517118-G-A c.612C>T p.I204= Synonymous 6/14 - 1
19-36517118-G-T c.612C>A p.I204= Synonymous 6/14 - 1
19-36517120-T-C c.610A>G p.I204V Missense 6/14 - 1
19-36517131-G-C c.599C>G p.S200* Nonsense 6/14 - 1
19-36517131-G-T c.599C>A p.S200* Nonsense 6/14 - 1
19-36517135-C-T c.595G>A p.G199S Missense 6/14 - 1
19-36517143-A-G c.587T>C p.F196S Missense 6/14 - 1
19-36517145-G-A c.585C>T p.D195= Synonymous 6/14 - 1
19-36517152-C-A c.578G>T p.C193F Missense 6/14 - 1
19-36517152-CA-GT c.577_578delinsAC p.C193T Missense 6/14 - 1
19-36517155-G-A c.575C>T p.T192M Missense 6/14 - 4
19-36517163-C-T c.567G>A p.V189= Synonymous 6/14 - 1
19-36517166-C-T c.564G>A p.V188= Synonymous 6/14 - 1
19-36517167-A-G c.563T>C p.V188A Missense 6/14 - 1
19-36517461-C-A c.562+27G>T - IntronicSNV - 5/13 1
19-36517461-C-G c.562+27G>C - IntronicSNV - 5/13 1
19-36517487-C-T c.562+1G>A - IntronicSNV - 5/13 1
19-36517491-G-A c.559C>T p.R187* Nonsense 5/14 - 3
19-36517492-C-A c.558G>T p.P186= Synonymous 5/14 - 2
19-36517492-C-G c.558G>C p.P186= Synonymous 5/14 - 2
19-36517492-C-T c.558G>A p.P186= Synonymous 5/14 - 3
19-36517493-G-A c.557C>T p.P186L Missense 5/14 - 3
19-36517498-C-A c.552G>T p.A184= Synonymous 5/14 - 3
19-36517498-C-G c.552G>C p.A184= Synonymous 5/14 - 3
19-36517498-C-T c.552G>A p.A184= Synonymous 5/14 - 4
19-36517499-G-A c.551C>T p.A184V Missense 5/14 - 2
19-36517510-C-A c.540G>T p.L180= Synonymous 5/14 - 1
19-36517510-C-G c.540G>C p.L180= Synonymous 5/14 - 1
19-36517510-C-T c.540G>A p.L180= Synonymous 5/14 - 1
19-36517512-G-A c.538C>T p.L180= Synonymous 5/14 - 1
19-36517518-G-A c.532C>T p.R178C Missense 5/14 - 3
19-36517526-T-A c.524A>T p.D175V Missense 5/14 - 2
19-36517527-C-T c.523G>A p.D175N Missense 5/14 - 2
19-36517530-G-A c.520C>T p.P174S Missense 5/14 - 1
19-36517536-C-T c.514G>A p.D172N Missense 5/14 - 2
19-36517537-A-G c.513T>C p.F171= Synonymous 5/14 - 1
19-36517545-C-T c.505G>A p.A169T Missense 5/14 - 2
19-36517546-C-T c.504G>A p.A168= Synonymous 5/14 - 2
19-36517547-G-A c.503C>T p.A168V Missense 5/14 - 1
19-36517548-C-T c.502G>A p.A168T Missense 5/14 - 3
19-36517552-G-C c.498C>G p.H166Q Missense 5/14 - 1
19-36517552-G-T c.498C>A p.H166Q Missense 5/14 - 1
19-36517553-T-C c.497A>G p.H166R Missense 5/14 - 2
19-36517559-G-A c.491C>T p.A164V Missense 5/14 - 4
19-36517564-C-T c.486G>A p.M162I Missense 5/14 - 3
19-36517573-C-T c.477G>A p.W159* Nonsense 5/14 - 1
19-36517574-C-T c.476G>A p.W159* Nonsense 5/14 - 2
19-36517577-CG-C c.472del p.R158Afs*5 Frameshift 5/14 - 1
19-36517584-G-A c.466C>T p.R156C Missense 5/14 - 4
19-36517585-C-A c.465G>T p.L155= Synonymous 5/14 - 1
19-36517585-CAG-AAA c.463_465delinsTTT p.L155F Missense 5/14 - 1
19-36517585-C-G c.465G>C p.L155= Synonymous 5/14 - 1
19-36517585-C-T c.465G>A p.L155= Synonymous 5/14 - 1
19-36517587-G-A c.463C>T p.L155= Synonymous 5/14 - 1
19-36517588-C-T c.462G>A p.T154= Synonymous 5/14 - 1
19-36517589-G-A c.461C>T p.T154M Missense 5/14 - 1
19-36517594-CA-C c.456del p.D152Efs*2 Frameshift 5/14 - 1
19-36517600-G-A c.450C>T p.G150= Synonymous 5/14 - 3
19-36517600-G-C c.450C>G p.G150= Synonymous 5/14 - 2
19-36517600-G-T c.450C>A p.G150= Synonymous 5/14 - 2
19-36517601-C-T c.449G>A p.G150D Missense 5/14 - 2
19-36517607-G-A c.443C>T p.A148V Missense 5/14 - 4
19-36517608-C-A c.442G>T p.A148S Missense 5/14 - 1
19-36517608-C-T c.442G>A p.A148T Missense 5/14 - 1
19-36517617-G-A c.433C>T p.Q145* Nonsense 5/14 - 2
19-36517622-G-A c.428C>T p.S143L Missense 5/14 - 1
19-36517624-G-A c.426C>T p.L142= Synonymous 5/14 - 1
19-36517624-G-C c.426C>G p.L142= Synonymous 5/14 - 1
19-36517624-G-T c.426C>A p.L142= Synonymous 5/14 - 1
19-36517630-CAC-GAT c.418_420delinsATC p.V140I Missense 5/14 - 1
19-36517634-G-A c.416C>T p.A139V Missense 5/14 - 2
19-36517635-C-A c.415G>T p.A139S Missense 5/14 - 1
19-36517639-C-T c.411G>A p.A137= Synonymous 5/14 - 1
19-36517640-G-A c.410C>T p.A137V Missense 5/14 - 3
19-36517641-C-T c.409G>A p.A137T Missense 5/14 - 3
19-36517642-G-T c.408C>A p.P136= Synonymous 5/14 - 1
19-36517645-G-A c.405C>T p.D135= Synonymous 5/14 - 1
19-36517654-G-A c.401-5C>T - IntronicSNV - 4/13 1
19-36517655-C-T c.401-6G>A - IntronicSNV - 4/13 8
19-36517734-A-G c.401-85T>C - IntronicSNV - 4/13 2
19-36517855-G-A c.399C>T p.V133= Synonymous 4/14 - 1
19-36517871-G-A c.383C>T p.A128V Missense 4/14 - 3
19-36517883-T-G c.371A>C p.Y124S Missense 4/14 - 1
19-36517886-T-C c.368A>G p.H123R Missense 4/14 - 1
19-36517887-G-A c.367C>T p.H123Y Missense 4/14 - 5
19-36517888-G-A c.366C>T p.L122= Synonymous 4/14 - 2
19-36517888-GAG-CAT c.364_366delinsATG p.L122M Missense 4/14 - 1
19-36517888-G-C c.366C>G p.L122= Synonymous 4/14 - 1
19-36517888-G-T c.366C>A p.L122= Synonymous 4/14 - 1
19-36517902-C-T c.352G>A p.D118N Missense 4/14 - 1
19-36517903-G-A c.351C>T p.T117= Synonymous 4/14 - 2
19-36517903-G-C c.351C>G p.T117= Synonymous 4/14 - 1
19-36517903-G-T c.351C>A p.T117= Synonymous 4/14 - 1
19-36517907-A-G c.347T>C p.L116P Missense 4/14 - 1
19-36517911-C-G c.343G>C p.G115R Missense 4/14 - 4
19-36517911-C-T c.343G>A p.G115R Missense 4/14 - 5
19-36517912-G-A c.342C>T p.D114= Synonymous 4/14 - 1
19-36517913-T-C c.341A>G p.D114G Missense 4/14 - 1
19-36517917-G-A c.337C>T p.R113C Missense 4/14 - 1
19-36517920-C-A c.334G>T p.D112Y Missense 4/14 - 1
19-36517926-C-T c.328G>A p.V110M Missense 4/14 - 1
19-36517941-G-A c.313C>T p.R105C Missense 4/14 - 1
19-36517946-A-T c.308T>A p.I103N Missense 4/14 - 1
19-36518034-C-T c.306G>A p.E102= Synonymous 3/14 - 1
19-36518036-C-A c.304G>T p.E102* Nonsense 3/14 - 1
19-36518040-GCC-TCA c.298_300delinsTGA p.G100* Nonsense 3/14 - 1
19-36518043-G-A c.297C>T p.I99= Synonymous 3/14 - 4
19-36518043-G-T c.297C>A p.I99= Synonymous 3/14 - 3
19-36518053-A-G c.287T>C p.I96T Missense 3/14 - 2
19-36518054-T-C c.286A>G p.I96V Missense 3/14 - 1
19-36518058-G-C c.282C>G p.H94Q Missense 3/14 - 3
19-36518058-G-T c.282C>A p.H94Q Missense 3/14 - 3
19-36518072-G-A c.268C>T p.P90S Missense 3/14 - 4
19-36518075-C-G c.265G>C p.V89L Missense 3/14 - 1
19-36518082-GC-TT c.257_258delinsAA p.R86Q Missense 3/14 - 1
19-36518084-G-A c.256C>T p.R86C Missense 3/14 - 3
19-36518094-A-G c.246T>C p.F82= Synonymous 3/14 - 1
19-36518100-C-T c.240G>A p.E80= Synonymous 3/14 - 1
19-36518102-C-T c.238G>A p.E80K Missense 3/14 - 2
19-36518111-T-G c.229A>C p.T77P Missense 3/14 - 1
19-36518119-G-T c.221C>A p.P74H Missense 3/14 - 1
19-36518123-C-T c.217G>A p.D73N Missense 3/14 - 1
19-36518135-C-T c.205G>A p.E69K Missense 3/14 - 5
19-36518142-C-T c.198G>A p.A66= Synonymous 3/14 - 1
19-36518143-G-A c.197C>T p.A66V Missense 3/14 - 2
19-36518146-G-A c.194C>T p.P65L Missense 3/14 - 1
19-36518147-G-A c.193C>T p.P65S Missense 3/14 - 1
19-36518150-C-A c.190G>T p.D64Y Missense 3/14 - 1
19-36518150-C-G c.190G>C p.D64H Missense 3/14 - 1
19-36518150-C-CA c.189dup p.D64* Nonsense 3/14 - 1
19-36518151-A-C c.189T>G p.N63K Missense 3/14 - 1
19-36518151-A-T c.189T>A p.N63K Missense 3/14 - 1
19-36518156-G-A c.184C>T p.P62S Missense 3/14 - 2
19-36518160-G-C c.180C>G p.F60L Missense 3/14 - 1
19-36521925-C-T c.166+1169G>A - IntronicSNV - 2/13 1
19-36522857-T-A c.166+237A>T - IntronicSNV - 2/13 1
19-36523094-C-T c.166G>A p.A56T Missense 2/14 - 1
19-36523098-G-A c.162C>T p.D54= Synonymous 2/14 - 1
19-36523105-G-T c.155C>A p.P52H Missense 2/14 - 1
19-36523112-G-A c.148C>T p.P50S Missense 2/14 - 1
19-36523117-G-A c.143C>T p.P48L Missense 2/14 - 1
19-36523119-TGC-CAT c.139_141delinsATG p.A47M Missense 2/14 - 1
19-36523130-G-A c.130C>T p.H44Y Missense 2/14 - 1
19-36523134-AAC-CAT c.124_126delinsATG p.V42M Missense 2/14 - 1
19-36523135-A-G c.125T>C p.V42A Missense 2/14 - 2
19-36523136-C-T c.124G>A p.V42I Missense 2/14 - 1
19-36523139-G-A c.121C>T p.P41S Missense 2/14 - 1
19-36523143-C-A c.117G>T p.Q39H Missense 2/14 - 1
19-36523143-C-G c.117G>C p.Q39H Missense 2/14 - 1
19-36523143-C-T c.117G>A p.Q39= Synonymous 2/14 - 1
19-36523149-G-A c.111C>T p.R37= Synonymous 2/14 - 1
19-36523150-C-A c.110G>T p.R37L Missense 2/14 - 3
19-36523157-G-T c.103C>A p.Q35K Missense 2/14 - 1
19-36523160-T-C c.100A>G p.T34A Missense 2/14 - 1
19-36523160-T-G c.100A>C p.T34P Missense 2/14 - 1
19-36523161-G-A c.99C>T p.P33= Synonymous 2/14 - 1
19-36523164-G-A c.96C>T p.S32= Synonymous 2/14 - 1
19-36523164-G-C c.96C>G p.S32R Missense 2/14 - 1
19-36523164-G-T c.96C>A p.S32R Missense 2/14 - 1
19-36523166-T-G c.94A>C p.S32R Missense 2/14 - 1
19-36523184-G-A c.76C>T p.P26S Missense 2/14 - 1
19-36523187-C-T c.73G>A p.E25K Missense 2/14 - 2
19-36523194-C-A c.66G>T p.E22D Missense 2/14 - 1
19-36523194-C-G c.66G>C p.E22D Missense 2/14 - 1
19-36523197-C-A c.63G>T p.E21D Missense 2/14 - 3
19-36523197-C-G c.63G>C p.E21D Missense 2/14 - 2
19-36523200-C-T c.60G>A p.E20= Synonymous 2/14 - 6
19-36523202-C-G c.58G>C p.E20Q Missense 2/14 - 1
19-36523194-CTCCTCCTCTTCT-C c.54_65del p.E20_E23del InFrameDeletion 2/14 - 1
19-36523209-C-T c.51G>A p.E17= Synonymous 2/14 - 1
19-36523219-C-A c.41G>T p.R14L Missense 2/14 - 1
19-36523219-C-G c.41G>C p.R14P Missense 2/14 - 1
19-36523219-C-T c.41G>A p.R14Q Missense 2/14 - 1
19-36523226-G-T c.34C>A p.P12T Missense 2/14 - 1
19-36523228-G-A c.32C>T p.P11L Missense 2/14 - 2
19-36523230-GGC-CAT c.28_30delinsATG p.A10M Missense 2/14 - 1
19-36523231-GC-TA c.28_29delinsTA p.A10Y Missense 2/14 - 2
19-36523233-C-A c.27G>T p.M9I Missense 2/14 - 1
19-36523233-C-G c.27G>C p.M9I Missense 2/14 - 1
19-36523233-C-T c.27G>A p.M9I Missense 2/14 - 1
19-36523254-A-C c.6T>G p.T2= Synonymous 2/14 - 1
19-36523254-A-G c.6T>C p.T2= Synonymous 2/14 - 1
19-36523254-A-T c.6T>A p.T2= Synonymous 2/14 - 1
19-36523293-G-A c.-34C>T - 5-UTRSNV 2/14 - 1
19-36523451-G-T c.-192C>A - IntronicSNV 1/14 - 3
19-36523525-G-T c.-59+101C>A - intron_variant - 1/13 1
19-36523669-C-A c.-102G>T - 5_prime_UTR_variant 1/14 - 1
19-36523669-C-G c.-102G>C - 5_prime_UTR_variant 1/14 - 1