ZNF14

ZNF14 zinc finger protein 14

Annotation transcript: NM_021030.3

637 unique variant annotations were identified in 258 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
19-19821825-T-C c.*336A>G - 3-UTRSNV 4/4 - 2
19-19822049-T-C c.*112A>G - 3-UTRSNV 4/4 - 10
19-19822126-G-C c.*35C>G - 3-UTRSNV 4/4 - 1
19-19822168-T-C c.1922A>G p.K641R Missense 4/4 - 1
19-19822170-C-T c.1920G>A p.E640= Synonymous 4/4 - 1
19-19822175-C-G c.1915G>C p.G639R Missense 4/4 - 1
19-19822175-C-T c.1915G>A p.G639R Missense 4/4 - 1
19-19822176-C-A c.1914G>T p.M638I Missense 4/4 - 2
19-19822176-C-G c.1914G>C p.M638I Missense 4/4 - 2
19-19822176-C-T c.1914G>A p.M638I Missense 4/4 - 2
19-19822183-G-A c.1907C>T p.T636I Missense 4/4 - 1
19-19822185-C-T c.1905G>A p.R635= Synonymous 4/4 - 1
19-19822187-T-G c.1903A>C p.R635= Synonymous 4/4 - 1
19-19822186-C-A c.1904G>T p.R635M Missense 4/4 - 1
19-19822190-C-G c.1900G>C p.E634Q Missense 4/4 - 2
19-19822199-G-A c.1891C>T p.R631* Nonsense 4/4 - 9
19-19822207-C-A c.1883G>T p.S628I Missense 4/4 - 1
19-19822207-C-T c.1883G>A p.S628N Missense 4/4 - 1
19-19822223-C-G c.1867G>C p.A623P Missense 4/4 - 1
19-19822227-T-A c.1863A>T p.G621= Synonymous 4/4 - 1
19-19822227-T-C c.1863A>G p.G621= Synonymous 4/4 - 1
19-19822227-T-G c.1863A>C p.G621= Synonymous 4/4 - 1
19-19822234-T-A c.1856A>T p.Q619L Missense 4/4 - 1
19-19822244-C-G c.1846G>C p.E616Q Missense 4/4 - 1
19-19822244-C-T c.1846G>A p.E616K Missense 4/4 - 1
19-19822246-T-C c.1844A>G p.Y615C Missense 4/4 - 1
19-19822256-C-A c.1834G>T p.E612* Nonsense 4/4 - 1
19-19822256-C-T c.1834G>A p.E612K Missense 4/4 - 1
19-19822257-T-A c.1833A>T p.G611= Synonymous 4/4 - 1
19-19822257-T-C c.1833A>G p.G611= Synonymous 4/4 - 1
19-19822257-T-G c.1833A>C p.G611= Synonymous 4/4 - 2
19-19822265-G-A c.1825C>T p.H609Y Missense 4/4 - 3
19-19822266-A-C c.1824T>G p.S608= Synonymous 4/4 - 1
19-19822266-A-G c.1824T>C p.S608= Synonymous 4/4 - 1
19-19822266-A-T c.1824T>A p.S608= Synonymous 4/4 - 1
19-19822268-A-T c.1822T>A p.S608T Missense 4/4 - 1
19-19822273-T-C c.1817A>G p.E606G Missense 4/4 - 1
19-19822274-C-T c.1816G>A p.E606K Missense 4/4 - 1
19-19822279-A-C c.1811T>G p.I604S Missense 4/4 - 1
19-19822283-G-A c.1807C>T p.R603* Nonsense 4/4 - 9
19-19822288-G-A c.1802C>T p.S601F Missense 4/4 - 2
19-19822297-A-G c.1793T>C p.F598S Missense 4/4 - 1
19-19822299-T-A c.1791A>T p.R597S Missense 4/4 - 1
19-19822299-T-G c.1791A>C p.R597S Missense 4/4 - 1
19-19822307-C-T c.1783G>A p.A595T Missense 4/4 - 1
19-19822311-C-A c.1779G>T p.G593= Synonymous 4/4 - 1
19-19822311-C-G c.1779G>C p.G593= Synonymous 4/4 - 1
19-19822311-C-T c.1779G>A p.G593= Synonymous 4/4 - 1
19-19822313-C-A c.1777G>T p.G593W Missense 4/4 - 2
19-19822314-A-T c.1776T>A p.C592* Nonsense 4/4 - 3
19-19822327-C-T c.1763G>A p.R588Q Missense 4/4 - 1
19-19822328-G-A c.1762C>T p.R588* Nonsense 4/4 - 3
19-19822337-T-G c.1753A>C p.K585Q Missense 4/4 - 1
19-19822340-C-T c.1750G>A p.E584K Missense 4/4 - 1
19-19822344-C-A c.1746G>T p.T582= Synonymous 4/4 - 1
19-19822344-C-G c.1746G>C p.T582= Synonymous 4/4 - 1
19-19822344-C-T c.1746G>A p.T582= Synonymous 4/4 - 1
19-19822344-CGTGT-C c.1742_1745del p.H581Rfs*124 Frameshift 4/4 - 1
19-19822358-C-T c.1732G>A p.E578K Missense 4/4 - 3
19-19822360-T-C c.1730A>G p.H577R Missense 4/4 - 1
19-19822366-C-T c.1724G>A p.R575Q Missense 4/4 - 1
19-19822367-G-A c.1723C>T p.R575* Nonsense 4/4 - 9
19-19822367-G-C c.1723C>G p.R575G Missense 4/4 - 1
19-19822368-A-G c.1722T>C p.F574= Synonymous 4/4 - 2
19-19822377-G-A c.1713C>T p.S571= Synonymous 4/4 - 1
19-19822377-G-C c.1713C>G p.S571= Synonymous 4/4 - 1
19-19822377-G-T c.1713C>A p.S571= Synonymous 4/4 - 1
19-19822378-G-A c.1712C>T p.S571F Missense 4/4 - 2
19-19822381-G-A c.1709C>T p.S570F Missense 4/4 - 5
19-19822385-T-C c.1705A>G p.I569V Missense 4/4 - 1
19-19822386-G-A c.1704C>T p.F568= Synonymous 4/4 - 2
19-19822401-T-A c.1689A>T p.Q563H Missense 4/4 - 1
19-19822401-T-G c.1689A>C p.Q563H Missense 4/4 - 1
19-19822404-T-A c.1686A>T p.K562N Missense 4/4 - 1
19-19822410-T-C c.1680A>G p.Q560= Synonymous 4/4 - 1
19-19822416-C-A c.1674G>T p.P558= Synonymous 4/4 - 1
19-19822416-C-G c.1674G>C p.P558= Synonymous 4/4 - 1
19-19822416-C-T c.1674G>A p.P558= Synonymous 4/4 - 2
19-19822418-G-A c.1672C>T p.P558S Missense 4/4 - 3
19-19822424-C-T c.1666G>A p.E556K Missense 4/4 - 2
19-19822426-C-A c.1664G>T p.G555V Missense 4/4 - 4
19-19822426-C-T c.1664G>A p.G555E Missense 4/4 - 2
19-19822433-G-A c.1657C>T p.H553Y Missense 4/4 - 2
19-19822442-C-T c.1648G>A p.E550K Missense 4/4 - 3
19-19822443-A-G c.1647T>C p.H549= Synonymous 4/4 - 3
19-19822445-G-A c.1645C>T p.H549Y Missense 4/4 - 3
19-19822446-C-T c.1644G>A p.L548= Synonymous 4/4 - 1
19-19822450-C-T c.1640G>A p.R547Q Missense 4/4 - 1
19-19822451-G-A c.1639C>T p.R547* Nonsense 4/4 - 10
19-19822451-G-T c.1639C>A p.R547= Synonymous 4/4 - 1
19-19822461-G-A c.1629C>T p.S543= Synonymous 4/4 - 1
19-19822461-G-C c.1629C>G p.S543= Synonymous 4/4 - 1
19-19822461-G-T c.1629C>A p.S543= Synonymous 4/4 - 1
19-19822462-G-C c.1628C>G p.S543C Missense 4/4 - 1
19-19822466-G-A c.1624C>T p.R542C Missense 4/4 - 4
19-19822470-G-A c.1620C>T p.F540= Synonymous 4/4 - 3
19-19822473-G-A c.1617C>T p.A539= Synonymous 4/4 - 1
19-19822489-T-C c.1601A>G p.K534R Missense 4/4 - 2
19-19822497-A-T c.1593T>A p.F531L Missense 4/4 - 5
19-19822497-A-C c.1593T>G p.F531L Missense 4/4 - 3
19-19822499-A-G c.1591T>C p.F531L Missense 4/4 - 3
19-19822504-T-A c.1586A>T p.K529M Missense 4/4 - 4
19-19822504-T-C c.1586A>G p.K529R Missense 4/4 - 1
19-19822509-T-G c.1581A>C p.G527= Synonymous 4/4 - 1
19-19822515-G-A c.1575C>T p.H525= Synonymous 4/4 - 1
19-19822518-A-C c.1572T>G p.I524M Missense 4/4 - 1
19-19822519-A-T c.1571T>A p.I524N Missense 4/4 - 1
19-19822523-T-G c.1567A>C p.K523Q Missense 4/4 - 2
19-19822525-T-C c.1565A>G p.E522G Missense 4/4 - 1
19-19822526-C-T c.1564G>A p.E522K Missense 4/4 - 3
19-19822532-C-G c.1558G>C p.E520Q Missense 4/4 - 4
19-19822534-C-T c.1556G>A p.R519Q Missense 4/4 - 1
19-19822535-G-A c.1555C>T p.R519* Nonsense 4/4 - 3
19-19822545-T-G c.1545A>C p.S515= Synonymous 4/4 - 1
19-19822554-G-A c.1536C>T p.F512= Synonymous 4/4 - 1
19-19822565-C-T c.1525G>A p.G509S Missense 4/4 - 3
19-19822566-G-A c.1524C>T p.C508= Synonymous 4/4 - 2
19-19822567-C-G c.1523G>C p.C508S Missense 4/4 - 1
19-19822567-C-T c.1523G>A p.C508Y Missense 4/4 - 1
19-19822569-T-A c.1521A>T p.L507= Synonymous 4/4 - 1
19-19822569-T-C c.1521A>G p.L507= Synonymous 4/4 - 1
19-19822569-T-G c.1521A>C p.L507= Synonymous 4/4 - 1
19-19822571-G-A c.1519C>T p.L507= Synonymous 4/4 - 1
19-19822584-G-A c.1506C>T p.P502= Synonymous 4/4 - 3
19-19822585-G-A c.1505C>T p.P502L Missense 4/4 - 2
19-19822586-G-A c.1504C>T p.P502S Missense 4/4 - 1
19-19822588-TTCTC-T c.1498_1501del p.E500Nfs*205 Frameshift 4/4 - 1
19-19822592-C-CA c.1497_1498insT p.E500* Nonsense 4/4 - 1
19-19822592-C-T c.1498G>A p.E500K Missense 4/4 - 1
19-19822618-C-T c.1472G>A p.R491Q Missense 4/4 - 4
19-19822617-T-A c.1473A>T p.R491= Synonymous 4/4 - 2
19-19822617-T-C c.1473A>G p.R491= Synonymous 4/4 - 1
19-19822617-T-G c.1473A>C p.R491= Synonymous 4/4 - 1
19-19822619-G-A c.1471C>T p.R491* Nonsense 4/4 - 3
19-19822619-G-T c.1471C>A p.R491= Synonymous 4/4 - 1
19-19822624-G-A c.1466C>T p.S489F Missense 4/4 - 4
19-19822624-G-C c.1466C>G p.S489C Missense 4/4 - 1
19-19822627-C-A c.1463G>T p.S488I Missense 4/4 - 1
19-19822633-C-T c.1457G>A p.R486H Missense 4/4 - 2
19-19822634-G-A c.1456C>T p.R486C Missense 4/4 - 4
19-19822635-A-G c.1455T>C p.I485= Synonymous 4/4 - 1
19-19822635-A-T c.1455T>A p.I485= Synonymous 4/4 - 1
19-19822638-G-A c.1452C>T p.F484= Synonymous 4/4 - 1
19-19822640-A-T c.1450T>A p.F484I Missense 4/4 - 1
19-19822643-C-T c.1447G>A p.V483I Missense 4/4 - 1
19-19822647-T-A c.1443A>T p.G481= Synonymous 4/4 - 1
19-19822647-T-C c.1443A>G p.G481= Synonymous 4/4 - 2
19-19822647-T-G c.1443A>C p.G481= Synonymous 4/4 - 1
19-19822650-A-G c.1440T>C p.C480= Synonymous 4/4 - 2
19-19822654-T-C c.1436A>G p.Q479R Missense 4/4 - 1
19-19822660-C-T c.1430G>A p.C477Y Missense 4/4 - 1
19-19822668-G-T c.1422C>A p.P474= Synonymous 4/4 - 1
19-19822669-G-A c.1421C>T p.P474L Missense 4/4 - 2
19-19822670-G-A c.1420C>T p.P474S Missense 4/4 - 3
19-19822676-C-T c.1414G>A p.E472K Missense 4/4 - 1
19-19822678-C-G c.1412G>C p.G471A Missense 4/4 - 1
19-19822678-C-T c.1412G>A p.G471E Missense 4/4 - 1
19-19822689-CCT-ACA c.1399_1401delinsTGT p.R467C Missense 4/4 - 1
19-19822689-C-G c.1401G>C p.R467S Missense 4/4 - 1
19-19822702-C-A c.1388G>T p.R463L Missense 4/4 - 1
19-19822703-G-A c.1387C>T p.R463* Nonsense 4/4 - 3
19-19822713-T-A c.1377A>T p.S459= Synonymous 4/4 - 1
19-19822713-T-C c.1377A>G p.S459= Synonymous 4/4 - 2
19-19822713-T-G c.1377A>C p.S459= Synonymous 4/4 - 1
19-19822725-G-T c.1365C>A p.A455= Synonymous 4/4 - 2
19-19822727-C-A c.1363G>T p.A455S Missense 4/4 - 1
19-19822727-C-G c.1363G>C p.A455P Missense 4/4 - 1
19-19822740-T-C c.1350A>G p.K450= Synonymous 4/4 - 1
19-19822754-G-T c.1336C>A p.P446T Missense 4/4 - 2
19-19822757-T-G c.1333A>C p.K445Q Missense 4/4 - 1
19-19822760-C-A c.1330G>T p.E444* Nonsense 4/4 - 5
19-19822763-C-T c.1327G>A p.A443T Missense 4/4 - 1
19-19822765-T-G c.1325A>C p.N442T Missense 4/4 - 1
19-19822766-T-C c.1324A>G p.N442D Missense 4/4 - 1
19-19822767-G-A c.1323C>T p.H441= Synonymous 4/4 - 1
19-19822770-A-C c.1320T>G p.T440= Synonymous 4/4 - 3
19-19822770-A-G c.1320T>C p.T440= Synonymous 4/4 - 3
19-19822770-A-T c.1320T>A p.T440= Synonymous 4/4 - 3
19-19822771-G-T c.1319C>A p.T440N Missense 4/4 - 1
19-19822778-C-A c.1312G>T p.E438* Nonsense 4/4 - 1
19-19822778-C-T c.1312G>A p.E438K Missense 4/4 - 2
19-19822781-G-A c.1309C>T p.H437Y Missense 4/4 - 2
19-19822787-G-A c.1303C>T p.Q435* Nonsense 4/4 - 1
19-19822792-G-A c.1298C>T p.S433F Missense 4/4 - 1
19-19822794-A-G c.1296T>C p.S432= Synonymous 4/4 - 3
19-19822798-G-C c.1292C>G p.S431* Nonsense 4/4 - 1
19-19822798-G-T c.1292C>A p.S431* Nonsense 4/4 - 1
19-19822806-G-A c.1284C>T p.F428= Synonymous 4/4 - 1
19-19822812-T-A c.1278A>T p.K426N Missense 4/4 - 1
19-19822818-A-G c.1272T>C p.C424= Synonymous 4/4 - 1
19-19822821-T-C c.1269A>G p.Q423= Synonymous 4/4 - 1
19-19822832-C-T c.1258G>A p.E420K Missense 4/4 - 3
19-19822836-G-A c.1254C>T p.P418= Synonymous 4/4 - 1
19-19822836-G-C c.1254C>G p.P418= Synonymous 4/4 - 1
19-19822836-G-T c.1254C>A p.P418= Synonymous 4/4 - 1
19-19822837-G-T c.1253C>A p.P418H Missense 4/4 - 1
19-19822843-T-C c.1247A>G p.E416G Missense 4/4 - 1
19-19822862-C-A c.1228G>T p.E410* Nonsense 4/4 - 1
19-19822862-C-T c.1228G>A p.E410K Missense 4/4 - 1
19-19822863-G-A c.1227C>T p.H409= Synonymous 4/4 - 2
19-19822868-C-G c.1222G>C p.E408Q Missense 4/4 - 1
19-19822870-C-T c.1220G>A p.R407Q Missense 4/4 - 1
19-19822871-G-A c.1219C>T p.R407* Nonsense 4/4 - 2
19-19822875-G-A c.1215C>T p.S405= Synonymous 4/4 - 3
19-19822876-G-A c.1214C>T p.S405F Missense 4/4 - 4
19-19822878-AACT-A c.1210_1212del p.S405del InFrameDeletion 4/4 - 1
19-19822881-TG-AC c.1208_1209delinsGT p.S403C Missense 4/4 - 1
19-19822882-G-A c.1208C>T p.S403L Missense 4/4 - 2
19-19822885-A-C c.1205T>G p.F402C Missense 4/4 - 1
19-19822885-A-G c.1205T>C p.F402S Missense 4/4 - 2
19-19822888-C-T c.1202G>A p.S401N Missense 4/4 - 1
19-19822890-G-A c.1200C>T p.F400= Synonymous 4/4 - 1
19-19822895-T-C c.1195A>G p.T399A Missense 4/4 - 1
19-19822904-A-G c.1186T>C p.C396R Missense 4/4 - 1
19-19822908-T-A c.1182A>T p.K394N Missense 4/4 - 1
19-19822908-T-G c.1182A>C p.K394N Missense 4/4 - 1
19-19822917-A-T c.1173T>A p.Y391* Nonsense 4/4 - 1
19-19822916-CAT-C c.1172_1173del p.Y391* Frameshift 4/4 - 1
19-19822918-T-C c.1172A>G p.Y391C Missense 4/4 - 1
19-19822922-G-A c.1168C>T p.P390S Missense 4/4 - 2
19-19822923-T-C c.1167A>G p.K389= Synonymous 4/4 - 2
19-19822926-C-A c.1164G>T p.E388D Missense 4/4 - 3
19-19822926-C-G c.1164G>C p.E388D Missense 4/4 - 1
19-19822928-C-T c.1162G>A p.E388K Missense 4/4 - 1
19-19822933-G-GT c.1156dup p.T386Nfs*7 Frameshift 4/4 - 1
19-19822934-T-C c.1156A>G p.T386A Missense 4/4 - 1
19-19822936-T-C c.1154A>G p.H385R Missense 4/4 - 1
19-19822938-A-C c.1152T>G p.T384= Synonymous 4/4 - 1
19-19822938-A-G c.1152T>C p.T384= Synonymous 4/4 - 1
19-19822938-A-T c.1152T>A p.T384= Synonymous 4/4 - 1
19-19822944-T-C c.1146A>G p.E382= Synonymous 4/4 - 1
19-19822942-CT-C c.1147del p.R383Efs*323 Frameshift 4/4 - 1
19-19822945-T-C c.1145A>G p.E382G Missense 4/4 - 3
19-19822948-T-C c.1142A>G p.H381R Missense 4/4 - 1
19-19822954-C-A c.1136G>T p.R379L Missense 4/4 - 1
19-19822954-C-T c.1136G>A p.R379Q Missense 4/4 - 4
19-19822955-G-A c.1135C>T p.R379* Nonsense 4/4 - 7
19-19822960-G-A c.1130C>T p.S377F Missense 4/4 - 2
19-19822960-G-T c.1130C>A p.S377Y Missense 4/4 - 1
19-19822966-G-A c.1124C>T p.S375F Missense 4/4 - 3
19-19822970-A-G c.1120T>C p.W374R Missense 4/4 - 2
19-19822970-A-T c.1120T>A p.W374R Missense 4/4 - 2
19-19822978-G-A c.1112C>T p.S371L Missense 4/4 - 3
19-19822979-A-G c.1111T>C p.S371P Missense 4/4 - 1
19-19822987-C-A c.1103G>T p.C368F Missense 4/4 - 3
19-19822990-CG-TT c.1099_1100delinsAA p.R367K Missense 4/4 - 1
19-19822990-C-T c.1100G>A p.R367Q Missense 4/4 - 3
19-19822991-G-A c.1099C>T p.R367* Nonsense 4/4 - 4
19-19822999-T-C c.1091A>G p.E364G Missense 4/4 - 1
19-19823000-C-G c.1090G>C p.E364Q Missense 4/4 - 1
19-19823003-A-T c.1087T>A p.Y363N Missense 4/4 - 1
19-19823006-GT-G c.1083del p.K361Nfs*345 Frameshift 4/4 - 1
19-19823012-C-T c.1078G>A p.E360K Missense 4/4 - 1
19-19823019-A-T c.1071T>A p.H357Q Missense 4/4 - 2
19-19823021-G-C c.1069C>G p.H357D Missense 4/4 - 1
19-19823026-C-A c.1064G>T p.R355I Missense 4/4 - 5
19-19823026-C-G c.1064G>C p.R355T Missense 4/4 - 1
19-19823030-C-G c.1060G>C p.E354Q Missense 4/4 - 1
19-19823039-G-A c.1051C>T p.R351* Nonsense 4/4 - 2
19-19823041-C-T c.1049G>A p.C350Y Missense 4/4 - 1
19-19823044-G-A c.1046C>T p.S349F Missense 4/4 - 3
19-19823044-GA-AG c.1045_1046delinsCT p.S349L Missense 4/4 - 1
19-19823050-G-C c.1040C>G p.S347C Missense 4/4 - 1
19-19823061-G-A c.1029C>T p.A343= Synonymous 4/4 - 1
19-19823067-C-A c.1023G>T p.G341= Synonymous 4/4 - 1
19-19823068-CC-AG c.1021_1022delinsCT p.G341L Missense 4/4 - 1
19-19823075-C-T c.1015G>A p.E339K Missense 4/4 - 1
19-19823078-T-C c.1012A>G p.K338E Missense 4/4 - 1
19-19823092-C-T c.998G>A p.R333Q Missense 4/4 - 1
19-19823091-T-A c.999A>T p.R333= Synonymous 4/4 - 1
19-19823091-T-C c.999A>G p.R333= Synonymous 4/4 - 1
19-19823091-T-G c.999A>C p.R333= Synonymous 4/4 - 2
19-19823093-G-A c.997C>T p.R333* Nonsense 4/4 - 3
19-19823093-G-C c.997C>G p.R333G Missense 4/4 - 1
19-19823093-G-T c.997C>A p.R333= Synonymous 4/4 - 1
19-19823096-C-T c.994G>A p.A332T Missense 4/4 - 3
19-19823098-C-T c.992G>A p.G331E Missense 4/4 - 1
19-19823101-G-T c.989C>A p.T330N Missense 4/4 - 1
19-19823102-T-C c.988A>G p.T330A Missense 4/4 - 1
19-19823107-A-G c.983T>C p.I328T Missense 4/4 - 3
19-19823108-T-C c.982A>G p.I328V Missense 4/4 - 1
19-19823111-T-G c.979A>C p.I327L Missense 4/4 - 1
19-19823112-T-C c.978A>G p.V326= Synonymous 4/4 - 1
19-19823119-G-A c.971C>T p.A324V Missense 4/4 - 2
19-19823120-C-T c.970G>A p.A324T Missense 4/4 - 2
19-19823122-C-T c.968G>A p.R323Q Missense 4/4 - 4
19-19823123-G-A c.967C>T p.R323* Nonsense 4/4 - 2
19-19823141-A-C c.949T>G p.F317V Missense 4/4 - 2
19-19823142-G-T c.948C>A p.F316L Missense 4/4 - 2
19-19823142-G-C c.948C>G p.F316L Missense 4/4 - 1
19-19823144-A-G c.946T>C p.F316L Missense 4/4 - 1
19-19823146-G-T c.944C>A p.A315D Missense 4/4 - 1
19-19823147-C-A c.943G>T p.A315S Missense 4/4 - 1
19-19823159-C-G c.931G>C p.E311Q Missense 4/4 - 1
19-19823160-T-C c.930A>G p.K310= Synonymous 4/4 - 1
19-19823162-T-C c.928A>G p.K310E Missense 4/4 - 4
19-19823164-C-T c.926G>A p.C309Y Missense 4/4 - 1
19-19823165-A-G c.925T>C p.C309R Missense 4/4 - 1
19-19823166-T-C c.924A>G p.E308= Synonymous 4/4 - 1
19-19823174-G-A c.916C>T p.P306S Missense 4/4 - 1
19-19823175-T-G c.915A>C p.K305N Missense 4/4 - 1
19-19823179-T-C c.911A>G p.E304G Missense 4/4 - 2
19-19823180-C-T c.910G>A p.E304K Missense 4/4 - 1
19-19823182-C-T c.908G>A p.G303E Missense 4/4 - 3
19-19823183-C-T c.907G>A p.G303R Missense 4/4 - 1
19-19823185-C-G c.905G>C p.S302T Missense 4/4 - 2
19-19823187-A-C c.903T>G p.H301Q Missense 4/4 - 1
19-19823187-A-G c.903T>C p.H301= Synonymous 4/4 - 2
19-19823191-G-A c.899C>T p.T300I Missense 4/4 - 1
19-19823193-C-A c.897G>T p.R299S Missense 4/4 - 1
19-19823193-C-T c.897G>A p.R299= Synonymous 4/4 - 1
19-19823195-T-G c.895A>C p.R299= Synonymous 4/4 - 1
19-19823199-A-G c.891T>C p.H297= Synonymous 4/4 - 1
19-19823201-G-A c.889C>T p.H297Y Missense 4/4 - 5
19-19823202-C-T c.888G>A p.R296= Synonymous 4/4 - 1
19-19823204-T-G c.886A>C p.R296= Synonymous 4/4 - 1
19-19823205-TC-AT c.884_885delinsAT p.R295H Missense 4/4 - 1
19-19823206-C-T c.884G>A p.R295Q Missense 4/4 - 3
19-19823207-G-A c.883C>T p.R295* Nonsense 4/4 - 6
19-19823212-G-A c.878C>T p.S293F Missense 4/4 - 1
19-19823218-A-C c.872T>G p.L291R Missense 4/4 - 1
19-19823218-A-T c.872T>A p.L291H Missense 4/4 - 1
19-19823221-A-C c.869T>G p.F290C Missense 4/4 - 1
19-19823222-A-C c.868T>G p.F290V Missense 4/4 - 1
19-19823226-G-A c.864C>T p.F288= Synonymous 4/4 - 1
19-19823229-G-T c.861C>A p.A287= Synonymous 4/4 - 1
19-19823239-C-T c.851G>A p.C284Y Missense 4/4 - 1
19-19823250-T-C c.840A>G p.K280= Synonymous 4/4 - 1
19-19823253-G-A c.837C>T p.Y279= Synonymous 4/4 - 1
19-19823254-T-A c.836A>T p.Y279F Missense 4/4 - 1
19-19823257-G-A c.833C>T p.P278L Missense 4/4 - 1
19-19823257-G-T c.833C>A p.P278H Missense 4/4 - 1
19-19823259-T-A c.831A>T p.K277N Missense 4/4 - 1
19-19823259-T-C c.831A>G p.K277= Synonymous 4/4 - 1
19-19823259-T-G c.831A>C p.K277N Missense 4/4 - 2
19-19823258-GT-G c.831del p.K277Nfs*50 Frameshift 4/4 - 1
19-19823266-C-A c.824G>T p.G275V Missense 4/4 - 1
19-19823266-C-T c.824G>A p.G275E Missense 4/4 - 2
19-19823267-C-G c.823G>C p.G275R Missense 4/4 - 1
19-19823267-C-T c.823G>A p.G275R Missense 4/4 - 1
19-19823268-A-C c.822T>G p.T274= Synonymous 4/4 - 2
19-19823268-A-G c.822T>C p.T274= Synonymous 4/4 - 2
19-19823268-A-T c.822T>A p.T274= Synonymous 4/4 - 2
19-19823269-G-C c.821C>G p.T274S Missense 4/4 - 6
19-19823270-T-A c.820A>T p.T274S Missense 4/4 - 24
19-19823270-T-C c.820A>G p.T274A Missense 4/4 - 3
19-19823272-T-A c.818A>T p.H273L Missense 4/4 - 1
19-19823278-C-G c.812G>C p.R271T Missense 4/4 - 1
19-19823282-C-T c.808G>A p.E270K Missense 4/4 - 2
19-19823285-G-A c.805C>T p.H269Y Missense 4/4 - 2
19-19823289-TCG-CCA c.799_801delinsTGG p.R267W Missense 4/4 - 1
19-19823290-C-T c.800G>A p.R267Q Missense 4/4 - 1
19-19823291-G-A c.799C>T p.R267* Nonsense 4/4 - 2
19-19823305-C-T c.785G>A p.C262Y Missense 4/4 - 1
19-19823307-A-G c.783T>C p.S261= Synonymous 4/4 - 1
19-19823308-C-G c.782G>C p.S261T Missense 4/4 - 1
19-19823308-C-T c.782G>A p.S261N Missense 4/4 - 2
19-19823314-G-T c.776C>A p.A259D Missense 4/4 - 1
19-19823321-C-G c.769G>C p.G257R Missense 4/4 - 2
19-19823323-C-T c.767G>A p.C256Y Missense 4/4 - 1
19-19823325-T-C c.765A>G p.Q255= Synonymous 4/4 - 1
19-19823334-T-A c.756A>T p.E252D Missense 4/4 - 1
19-19823334-T-C c.756A>G p.E252= Synonymous 4/4 - 1
19-19823334-T-G c.756A>C p.E252D Missense 4/4 - 1
19-19823336-C-T c.754G>A p.E252K Missense 4/4 - 1
19-19823338-T-C c.752A>G p.Y251C Missense 4/4 - 1
19-19823344-T-C c.746A>G p.K249R Missense 4/4 - 1
19-19823348-C-T c.742G>A p.E248K Missense 4/4 - 1
19-19823349-T-C c.741A>G p.G247= Synonymous 4/4 - 2
19-19823350-C-T c.740G>A p.G247E Missense 4/4 - 1
19-19823355-G-A c.735C>T p.H245= Synonymous 4/4 - 1
19-19823355-G-T c.735C>A p.H245Q Missense 4/4 - 1
19-19823357-G-A c.733C>T p.H245Y Missense 4/4 - 1
19-19823357-G-C c.733C>G p.H245D Missense 4/4 - 2
19-19823359-G-T c.731C>A p.T244N Missense 4/4 - 1
19-19823362-C-A c.728G>T p.R243M Missense 4/4 - 1
19-19823368-T-G c.722A>C p.H241P Missense 4/4 - 1
19-19823375-G-A c.715C>T p.Q239* Nonsense 4/4 - 1
19-19823375-G-T c.715C>A p.Q239K Missense 4/4 - 1
19-19823380-G-C c.710C>G p.S237C Missense 4/4 - 2
19-19823385-G-T c.705C>A p.Y235* Nonsense 4/4 - 3
19-19823388-A-C c.702T>G p.C234W Missense 4/4 - 1
19-19823398-G-A c.692C>T p.A231V Missense 4/4 - 1
19-19823399-C-T c.691G>A p.A231T Missense 4/4 - 1
19-19823400-T-A c.690A>T p.K230N Missense 4/4 - 1
19-19823400-T-G c.690A>C p.K230N Missense 4/4 - 1
19-19823407-C-T c.683G>A p.C228Y Missense 4/4 - 1
19-19823411-G-A c.679C>T p.Q227* Nonsense 4/4 - 1
19-19823414-T-C c.676A>G p.K226E Missense 4/4 - 2
19-19823420-C-A c.670G>T p.E224* Nonsense 4/4 - 1
19-19823423-A-G c.667T>C p.Y223H Missense 4/4 - 1
19-19823425-G-A c.665C>T p.P222L Missense 4/4 - 1
19-19823426-G-A c.664C>T p.P222S Missense 4/4 - 2
19-19823432-T-A c.658A>T p.K220* Nonsense 4/4 - 2
19-19823434-C-A c.656G>T p.G219V Missense 4/4 - 1
19-19823439-A-C c.651T>G p.H217Q Missense 4/4 - 1
19-19823439-A-T c.651T>A p.H217Q Missense 4/4 - 1
19-19823441-G-A c.649C>T p.H217Y Missense 4/4 - 1
19-19823444-C-T c.646G>A p.A216T Missense 4/4 - 1
19-19823446-T-C c.644A>G p.H215R Missense 4/4 - 1
19-19823452-T-G c.638A>C p.Q213P Missense 4/4 - 1
19-19823453-G-A c.637C>T p.Q213* Nonsense 4/4 - 1
19-19823454-A-C c.636T>G p.F212L Missense 4/4 - 1
19-19823454-A-T c.636T>A p.F212L Missense 4/4 - 1
19-19823456-A-G c.634T>C p.F212L Missense 4/4 - 1
19-19823458-G-A c.632C>T p.S211F Missense 4/4 - 2
19-19823458-G-T c.632C>A p.S211Y Missense 4/4 - 1
19-19823462-G-A c.628C>T p.Q210* Nonsense 4/4 - 2
19-19823467-T-C c.623A>G p.Y208C Missense 4/4 - 2
19-19823468-A-C c.622T>G p.Y208D Missense 4/4 - 1
19-19823468-A-G c.622T>C p.Y208H Missense 4/4 - 1
19-19823470-A-T c.620T>A p.I207K Missense 4/4 - 1
19-19823473-A-G c.617T>C p.F206S Missense 4/4 - 1
19-19823476-G-A c.614C>T p.T205I Missense 4/4 - 1
19-19823495-A-G c.595T>C p.C199R Missense 4/4 - 1
19-19823498-C-G c.592G>C p.E198Q Missense 4/4 - 1
19-19823501-A-C c.589T>G p.Y197D Missense 4/4 - 1
19-19823501-A-G c.589T>C p.Y197H Missense 4/4 - 1
19-19823512-C-T c.578G>A p.G193E Missense 4/4 - 1
19-19823513-C-T c.577G>A p.G193R Missense 4/4 - 1
19-19823515-G-T c.575C>A p.A192D Missense 4/4 - 1
19-19823519-G-A c.571C>T p.H191Y Missense 4/4 - 2
19-19823519-G-T c.571C>A p.H191N Missense 4/4 - 1
19-19823523-CC-GA c.566_567delinsTC p.R189I Missense 4/4 - 1
19-19823524-C-T c.566G>A p.R189K Missense 4/4 - 1
19-19823524-CT-TG c.565_566delinsCA p.R189Q Missense 4/4 - 1
19-19823525-T-C c.565A>G p.R189G Missense 4/4 - 1
19-19823528-C-G c.562G>C p.E188Q Missense 4/4 - 1
19-19823528-C-T c.562G>A p.E188K Missense 4/4 - 1
19-19823533-C-G c.557G>C p.R186T Missense 4/4 - 1
19-19823542-G-A c.548C>T p.P183L Missense 4/4 - 3
19-19823542-G-T c.548C>A p.P183Q Missense 4/4 - 2
19-19823543-G-A c.547C>T p.P183S Missense 4/4 - 1
19-19823557-A-C c.533T>G p.F178C Missense 4/4 - 1
19-19823561-C-T c.529G>A p.A177T Missense 4/4 - 1
19-19823565-CCC-GCT c.523_525delinsAGC p.G175S Missense 4/4 - 1
19-19823566-C-A c.524G>T p.G175V Missense 4/4 - 1
19-19823570-CA-C c.520del p.C174Vfs*153 Frameshift 4/4 - 1
19-19823571-C-T c.519G>A p.Q173= Synonymous 4/4 - 1
19-19823573-G-T c.517C>A p.Q173K Missense 4/4 - 1
19-19823574-T-A c.516A>T p.K172N Missense 4/4 - 1
19-19823574-T-G c.516A>C p.K172N Missense 4/4 - 1
19-19823576-T-G c.514A>C p.K172Q Missense 4/4 - 2
19-19823582-C-A c.508G>T p.E170* Nonsense 4/4 - 1
19-19823586-G-A c.504C>T p.P168= Synonymous 4/4 - 1
19-19823586-G-C c.504C>G p.P168= Synonymous 4/4 - 1
19-19823586-G-T c.504C>A p.P168= Synonymous 4/4 - 1
19-19823589-C-T c.501G>A p.K167= Synonymous 4/4 - 1
19-19823593-A-C c.497T>G p.V166G Missense 4/4 - 1
19-19823593-A-G c.497T>C p.V166A Missense 4/4 - 1
19-19823593-A-T c.497T>A p.V166E Missense 4/4 - 1
19-19823594-C-T c.496G>A p.V166M Missense 4/4 - 5
19-19823600-T-C c.490A>G p.T164A Missense 4/4 - 1
19-19823608-C-G c.482G>C p.R161T Missense 4/4 - 1
19-19823620-C-T c.470G>A p.R157H Missense 4/4 - 1
19-19823621-G-A c.469C>T p.R157C Missense 4/4 - 3
19-19823625-G-A c.465C>T p.C155= Synonymous 4/4 - 1
19-19823631-G-A c.459C>T p.H153= Synonymous 4/4 - 1
19-19823631-G-C c.459C>G p.H153Q Missense 4/4 - 1
19-19823631-G-T c.459C>A p.H153Q Missense 4/4 - 3
19-19823632-T-C c.458A>G p.H153R Missense 4/4 - 1
19-19823637-A-T c.453T>A p.S151R Missense 4/4 - 1
19-19823639-T-C c.451A>G p.S151G Missense 4/4 - 1
19-19823643-G-A c.447C>T p.T149= Synonymous 4/4 - 1
19-19823643-G-C c.447C>G p.T149= Synonymous 4/4 - 1
19-19823643-G-T c.447C>A p.T149= Synonymous 4/4 - 1
19-19823645-T-G c.445A>C p.T149P Missense 4/4 - 1
19-19823646-T-G c.444A>C p.K148N Missense 4/4 - 1
19-19823644-G-GT c.445dup p.T149Nfs*12 Frameshift 4/4 - 1
19-19823650-C-A c.440G>T p.G147V Missense 4/4 - 1
19-19823653-A-G c.437T>C p.V146A Missense 4/4 - 1
19-19823660-T-C c.430A>G p.K144E Missense 4/4 - 1
19-19823661-A-T c.429T>A p.C143* Nonsense 4/4 - 1
19-19823662-C-G c.428G>C p.C143S Missense 4/4 - 1
19-19823669-A-G c.421T>C p.C141R Missense 4/4 - 1
19-19823670-T-C c.420A>G p.P140= Synonymous 4/4 - 1
19-19823675-G-GC c.414dup p.Q139Afs*4 Frameshift 4/4 - 1
19-19823676-C-A c.414G>T p.K138N Missense 4/4 - 2
19-19823676-C-G c.414G>C p.K138N Missense 4/4 - 2
19-19823677-T-C c.413A>G p.K138R Missense 4/4 - 1
19-19823694-C-A c.396G>T p.E132D Missense 4/4 - 1
19-19823694-C-G c.396G>C p.E132D Missense 4/4 - 1
19-19823696-C-G c.394G>C p.E132Q Missense 4/4 - 1
19-19823698-T-C c.392A>G p.N131S Missense 4/4 - 1
19-19823712-CAG-C c.377_378del p.T126Rfs*6 Frameshift 4/4 - 1
19-19823714-T-C c.376A>G p.T126A Missense 4/4 - 1
19-19823724-C-A c.366G>T p.M122I Missense 4/4 - 2
19-19823724-C-G c.366G>C p.M122I Missense 4/4 - 4
19-19823724-C-T c.366G>A p.M122I Missense 4/4 - 3
19-19823729-G-A c.361C>T p.H121Y Missense 4/4 - 2
19-19823738-G-T c.352C>A p.L118I Missense 4/4 - 1
19-19823739-G-A c.351C>T p.S117= Synonymous 4/4 - 1
19-19823743-G-A c.347C>T p.S116L Missense 4/4 - 1
19-19823747-G-A c.343C>T p.H115Y Missense 4/4 - 1
19-19823754-G-A c.336C>T p.F112= Synonymous 4/4 - 1
19-19823760-T-C c.330A>G p.R110= Synonymous 4/4 - 3
19-19823764-C-T c.326G>A p.G109E Missense 4/4 - 1
19-19823766-A-G c.324T>C p.C108= Synonymous 4/4 - 1
19-19823769-A-C c.321T>G p.F107L Missense 4/4 - 2
19-19823769-A-T c.321T>A p.F107L Missense 4/4 - 2
19-19823771-A-G c.319T>C p.F107L Missense 4/4 - 2
19-19823778-TTCAT-CAAAA c.308_312delinsTTTTG p.H103_E104delinsLL MultiAAMissense 4/4 - 1
19-19823780-C-T c.310G>A p.E104K Missense 4/4 - 2
19-19823781-A-ACT c.308_309insAG p.H103Qfs*21 Frameshift 4/4 - 1
19-19823784-T-C c.306A>G p.P102= Synonymous 4/4 - 2
19-19823795-C-T c.295G>A p.G99R Missense 4/4 - 1
19-19823797-G-C c.293C>G p.T98S Missense 4/4 - 1
19-19823797-GT-CC c.292_293delinsGG p.T98G Missense 4/4 - 1
19-19823798-T-A c.292A>T p.T98S Missense 4/4 - 1
19-19823807-C-T c.283G>A p.E95K Missense 4/4 - 1
19-19823808-C-A c.282G>T p.K94N Missense 4/4 - 1
19-19823809-T-A c.281A>T p.K94M Missense 4/4 - 1
19-19823814-G-C c.276C>G p.I92M Missense 4/4 - 2
19-19823820-A-T c.270T>A p.V90= Synonymous 4/4 - 1
19-19823822-C-A c.268G>T p.V90F Missense 4/4 - 6
19-19823833-T-C c.257A>G p.Q86R Missense 4/4 - 5
19-19823846-TC-T c.244del p.E82Kfs*41 Frameshift 4/4 - 1
19-19823847-T-A c.243A>T p.G81= Synonymous 4/4 - 1
19-19823847-T-C c.243A>G p.G81= Synonymous 4/4 - 1
19-19823847-T-G c.243A>C p.G81= Synonymous 4/4 - 1
19-19823848-C-G c.242G>C p.G81A Missense 4/4 - 1
19-19823848-C-T c.242G>A p.G81E Missense 4/4 - 1
19-19823851-C-T c.239G>A p.C80Y Missense 4/4 - 1
19-19823856-G-A c.234C>T p.S78= Synonymous 4/4 - 3
19-19823860-C-T c.230G>A p.G77D Missense 4/4 - 1
19-19823861-C-A c.229G>T p.G77C Missense 4/4 - 1
19-19823862-TCT-CCA c.226_228delinsTGG p.R76W Missense 4/4 - 1
19-19823863-C-A c.227G>T p.R76I Missense 4/4 - 1
19-19823873-C-T c.217G>A p.E73K Missense 4/4 - 1
19-19823874-A-C c.216T>G p.C72W Missense 4/4 - 1
19-19823876-A-C c.214T>G p.C72G Missense 4/4 - 2
19-19823877-G-A c.213C>T p.L71= Synonymous 4/4 - 1
19-19823877-G-C c.213C>G p.L71= Synonymous 4/4 - 1
19-19823877-G-T c.213C>A p.L71= Synonymous 4/4 - 1
19-19823881-C-G c.209G>C p.R70T Missense 4/4 - 1
19-19823883-C-A c.207G>T p.E69D Missense 4/4 - 1
19-19823883-C-G c.207G>C p.E69D Missense 4/4 - 2
19-19823883-TC-T c.207del p.R70Dfs*53 Frameshift 4/4 - 1
19-19823885-C-G c.205G>C p.E69Q Missense 4/4 - 2
19-19823885-C-T c.205G>A p.E69K Missense 4/4 - 1
19-19823892-A-T c.198T>A p.H66Q Missense 4/4 - 1
19-19823895-A-C c.195T>G p.C65W Missense 4/4 - 1
19-19823936-A-C c.192-38T>G - IntronicSNV - 3/3 1
19-19824504-T-C c.191+396A>G - IntronicSNV - 3/3 1
19-19824556-C-T c.191+344G>A - IntronicSNV - 3/3 1
19-19824557-C-T c.191+343G>A - IntronicSNV - 3/3 1
19-19824850-T-G c.191+50A>C - IntronicSNV - 3/3 5
19-19824900-C-A c.191G>T p.R64I Missense 3/4 - 1
19-19824901-T-C c.190A>G p.R64G Missense 3/4 - 1
19-19824901-T-G c.190A>C p.R64= Synonymous 3/4 - 1
19-19824904-G-A c.187C>T p.R63* Nonsense 3/4 - 7
19-19824909-T-G c.182A>C p.K61T Missense 3/4 - 1
19-19824905-AT-A c.185del p.N62Ifs*61 Frameshift 3/4 - 1
19-19824910-T-C c.181A>G p.K61E Missense 3/4 - 2
19-19824913-C-A c.178G>T p.G60W Missense 3/4 - 3
19-19824926-G-A c.165C>T p.D55= Synonymous 3/4 - 3
19-19824928-C-G c.163G>C p.D55H Missense 3/4 - 3
19-19824929-A-G c.162T>C p.D54= Synonymous 3/4 - 1
19-19824933-T-G c.158A>C p.E53A Missense 3/4 - 1
19-19824938-GTCCTGGTCTTCCCACT-G c.137_152del p.K46Tfs*72 Frameshift 3/4 - 1
19-19824940-C-T c.151G>A p.D51N Missense 3/4 - 2
19-19824945-TCTTCC-T c.141_145del p.W47* Frameshift 3/4 - 1
19-19824949-C-G c.142G>C p.E48Q Missense 3/4 - 1
19-19824950-C-A c.141G>T p.W47C Missense 3/4 - 3
19-19824950-C-G c.141G>C p.W47C Missense 3/4 - 2
19-19824951-C-CT c.139_140insA p.W47* Nonsense 3/4 - 1
19-19824955-T-A c.136A>T p.K46* Nonsense 3/4 - 1
19-19824953-C-CT c.137dup p.W47Vfs*7 SpliceAcceptorInsertion 3/4 - 1
19-19824960-C-A c.131G>T p.G44V Missense 3/4 - 2
19-19824960-C-T c.131G>A p.G44E Missense 3/4 - 3
19-19825020-A-G c.131-60T>C - IntronicSNV - 2/3 1
19-19825151-G-C c.130+19C>G - IntronicSNV - 2/3 1
19-19825170-C-G c.130G>C p.G44R Missense 2/4 - 1
19-19825170-C-T c.130G>A p.G44R Missense 2/4 - 2
19-19825173-G-A c.127C>T p.L43= Synonymous 2/4 - 1
19-19825179-C-A c.121G>T p.V41F Missense 2/4 - 2
19-19825179-C-T c.121G>A p.V41I Missense 2/4 - 1
19-19825181-A-G c.119T>C p.L40P Missense 2/4 - 1
19-19825192-G-A c.108C>T p.T36= Synonymous 2/4 - 2
19-19825193-G-A c.107C>T p.T36I Missense 2/4 - 4
19-19825194-T-C c.106A>G p.T36A Missense 2/4 - 1
19-19825209-C-G c.91G>C p.D31H Missense 2/4 - 1
19-19825209-C-T c.91G>A p.D31N Missense 2/4 - 2
19-19825212-C-T c.88G>A p.E30K Missense 2/4 - 2
19-19825221-T-G c.79A>C p.K27Q Missense 2/4 - 1
19-19825229-G-A c.71C>T p.S24L Missense 2/4 - 1
19-19825232-G-T c.68C>A p.S23Y Missense 2/4 - 1
19-19825237-CAG-AAA c.61_63delinsTTT p.L21F Missense 2/4 - 2
19-19825240-C-A c.60G>T p.L20F Missense 2/4 - 2
19-19825240-C-G c.60G>C p.L20F Missense 2/4 - 2
19-19825243-A-C c.57T>G p.A19= Synonymous 2/4 - 1
19-19825243-A-G c.57T>C p.A19= Synonymous 2/4 - 1
19-19825243-AGC-CTT c.55_57delinsAAG p.A19K Missense 2/4 - 1
19-19825243-A-T c.57T>A p.A19= Synonymous 2/4 - 1
19-19825245-C-A c.55G>T p.A19S Missense 2/4 - 1
19-19825245-C-G c.55G>C p.A19P Missense 2/4 - 1
19-19825245-C-T c.55G>A p.A19T Missense 2/4 - 1
19-19825251-C-T c.49G>A p.E17K Missense 2/4 - 2
19-19825255-C-G c.45G>C p.L15= Synonymous 2/4 - 1
19-19825257-G-T c.43C>A p.L15M Missense 2/4 - 1
19-19825258-G-A c.42C>T p.T14= Synonymous 2/4 - 2
19-19825258-G-C c.42C>G p.T14= Synonymous 2/4 - 1
19-19825258-G-T c.42C>A p.T14= Synonymous 2/4 - 1
19-19825259-G-A c.41C>T p.T14I Missense 2/4 - 2
19-19825259-G-T c.41C>A p.T14N Missense 2/4 - 1
19-19825261-G-A c.39C>T p.F13= Synonymous 2/4 - 2
19-19825264-G-A c.36C>T p.N12= Synonymous 2/4 - 1
19-19825269-C-T c.31G>A p.V11M Missense 2/4 - 1
19-19825270-G-A c.30C>T p.A10= Synonymous 2/4 - 1
19-19825270-GGC-CAT c.28_30delinsATG p.A10M Missense 2/4 - 1
19-19825271-GC-CA c.28_29delinsTG p.A10C Missense 2/4 - 1
19-19825273-C-A c.27G>T p.V9= Synonymous 2/4 - 1
19-19825273-C-G c.27G>C p.V9= Synonymous 2/4 - 1
19-19825273-C-T c.27G>A p.V9= Synonymous 2/4 - 1
19-19825275-C-T c.25G>A p.V9M Missense 2/4 - 1
19-19825281-C-T c.19G>A p.E7K Missense 2/4 - 2
19-19825286-G-A c.14C>T p.S5F Missense 2/4 - 5
19-19825288-G-A c.12C>T p.V4= Synonymous 2/4 - 1
19-19825288-G-C c.12C>G p.V4= Synonymous 2/4 - 1
19-19825288-G-T c.12C>A p.V4= Synonymous 2/4 - 1
19-19825290-C-G c.10G>C p.V4L Missense 2/4 - 1
19-19825296-C-A c.4G>T p.D2Y Missense 2/4 - 1
19-19825522-C-T c.4-226G>A - IntronicSNV - 1/3 1
19-19826177-G-A c.4-881C>T - IntronicSNV - 1/3 1
19-19826240-C-A c.4-944G>T - IntronicSNV - 1/3 1
19-19826240-C-G c.4-944G>C - IntronicSNV - 1/3 1
19-19826240-C-T c.4-944G>A - IntronicSNV - 1/3 1
19-19826481-C-T c.4-1185G>A - IntronicSNV - 1/3 1
19-19829101-T-G c.4-3805A>C - IntronicSNV - 1/3 1
19-19833055-C-A c.4-7759G>T - IntronicSNV - 1/3 1
19-19840541-TA-T c.3+3223del - IntronicDeletion - 1/3 1
19-19843281-T-C c.3+484A>G - IntronicSNV - 1/3 1
19-19843518-G-C c.3+247C>G - IntronicSNV - 1/3 1
19-19843551-A-G c.3+214T>C - IntronicSNV - 1/3 6
19-19843728-A-G c.3+37T>C - IntronicSNV - 1/3 1
19-19843850-G-C c.-83C>G - 5-UTRSNV 1/4 - 1
19-19843904-A-G c.-137T>C - 5-UTRSNV 1/4 - 1