CAPN6

CAPN6 calpain 6

Annotation transcript: NM_014289.4

659 unique variant annotations were identified in 259 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
X-110489201-C-A c.*604G>T - 3-UTRSNV 13/13 - 1
X-110489201-C-G c.*604G>C - 3-UTRSNV 13/13 - 1
X-110489201-C-T c.*604G>A - 3-UTRSNV 13/13 - 1
X-110489202-G-A c.*603C>T - 3-UTRSNV 13/13 - 1
X-110489202-G-C c.*603C>G - 3-UTRSNV 13/13 - 1
X-110489227-C-A c.*578G>T - 3-UTRSNV 13/13 - 1
X-110489520-A-G c.*285T>C - 3-UTRSNV 13/13 - 4
X-110489811-C-T c.1920G>A p.E640= Synonymous 13/13 - 1
X-110489816-T-C c.1915A>G p.T639A Missense 13/13 - 1
X-110489825-C-T c.1906G>A p.D636N Missense 13/13 - 2
X-110489826-G-A c.1905C>T p.S635= Synonymous 13/13 - 1
X-110489830-G-A c.1901C>T p.S634F Missense 13/13 - 1
X-110489834-T-A c.1897A>T p.I633F Missense 13/13 - 2
X-110489845-C-T c.1886G>A p.S629N Missense 13/13 - 1
X-110489847-G-A c.1884C>T p.I628= Synonymous 13/13 - 1
X-110489847-G-C c.1884C>G p.I628M Missense 13/13 - 1
X-110489847-G-T c.1884C>A p.I628= Synonymous 13/13 - 1
X-110489860-T-C c.1871A>G p.K624R Missense 13/13 - 1
X-110489868-G-A c.1863C>T p.A621= Synonymous 13/13 - 1
X-110489870-C-T c.1861G>A p.A621T Missense 13/13 - 1
X-110489873-T-C c.1858A>G p.T620A Missense 13/13 - 1
X-110489875-G-A c.1856C>T p.P619L Missense 13/13 - 1
X-110489878-C-G c.1853G>C p.G618A Missense 13/13 - 3
X-110489879-C-A c.1852G>T p.G618C Missense 13/13 - 1
X-110489883-C-G c.1848G>C p.K616N Missense 13/13 - 1
X-110489887-T-C c.1844A>G p.K615R Missense 13/13 - 3
X-110489890-C-G c.1841G>C p.R614P Missense 13/13 - 1
X-110489890-C-T c.1841G>A p.R614H Missense 13/13 - 3
X-110489891-G-A c.1840C>T p.R614C Missense 13/13 - 4
X-110489892-C-T c.1839G>A p.L613= Synonymous 13/13 - 1
X-110489897-A-C c.1834T>G p.Y612D Missense 13/13 - 1
X-110489902-G-A c.1829C>T p.S610F Missense 13/13 - 1
X-110489911-T-C c.1820A>G p.D607G Missense 13/13 - 2
X-110489914-C-T c.1817G>A p.R606H Missense 13/13 - 4
X-110489915-G-A c.1816C>T p.R606C Missense 13/13 - 3
X-110489915-G-C c.1816C>G p.R606G Missense 13/13 - 1
X-110489917-C-A c.1814G>T p.C605F Missense 13/13 - 1
X-110489919-G-C c.1812C>G p.D604E Missense 13/13 - 1
X-110489921-C-A c.1810G>T p.D604Y Missense 13/13 - 1
X-110489921-C-T c.1810G>A p.D604N Missense 13/13 - 1
X-110489922-G-A c.1809C>T p.S603= Synonymous 13/13 - 1
X-110489923-C-T c.1808G>A p.S603N Missense 13/13 - 1
X-110489936-C-G c.1795G>C p.D599H Missense 13/13 - 5
X-110489938-A-G c.1793T>C p.L598P Missense 13/13 - 2
X-110489944-A-G c.1787T>C p.V596A Missense 13/13 - 2
X-110489946-C-A c.1785G>T p.Q595H Missense 13/13 - 1
X-110489946-C-T c.1785G>A p.Q595= Synonymous 13/13 - 1
X-110489947-T-C c.1784A>G p.Q595R Missense 13/13 - 1
X-110489949-C-A c.1782G>T p.G594= Synonymous 13/13 - 1
X-110489949-C-G c.1782G>C p.G594= Synonymous 13/13 - 1
X-110489949-C-T c.1782G>A p.G594= Synonymous 13/13 - 1
X-110489950-CC-TT c.1780_1781delinsAA p.G594K Missense 13/13 - 1
X-110489950-C-T c.1781G>A p.G594E Missense 13/13 - 3
X-110489951-C-T c.1780G>A p.G594R Missense 13/13 - 3
X-110489952-C-T c.1779G>A p.L593= Synonymous 13/13 - 1
X-110489954-A-T c.1777T>A p.L593M Missense 13/13 - 1
X-110489957-A-G c.1774T>C p.F592L Missense 13/13 - 1
X-110489962-T-A c.1769A>T p.D590V Missense 13/13 - 3
X-110489963-C-T c.1768G>A p.D590N Missense 13/13 - 2
X-110489965-C-G c.1766G>C p.C589S Missense 13/13 - 3
X-110489966-A-T c.1765T>A p.C589S Missense 13/13 - 4
X-110489974-C-A c.1757G>T p.R586L Missense 13/13 - 2
X-110489974-C-T c.1757G>A p.R586Q Missense 13/13 - 3
X-110489975-G-A c.1756C>T p.R586* Nonsense 13/13 - 2
X-110489976-G-A c.1755C>T p.S585= Synonymous 13/13 - 1
X-110489982-C-T c.1749G>A p.W583* Nonsense 13/13 - 1
X-110489983-C-T c.1748G>A p.W583* Nonsense 13/13 - 1
X-110490591-C-T c.1743+5G>A - IntronicSNV - 12/12 1
X-110490597-T-C c.1742A>G p.Q581R Missense 12/13 - 1
X-110490601-C-A c.1738G>T p.V580L Missense 12/13 - 2
X-110490601-C-G c.1738G>C p.V580L Missense 12/13 - 1
X-110490604-T-C c.1735A>G p.I579V Missense 12/13 - 1
X-110490605-A-G c.1734T>C p.I578= Synonymous 12/13 - 1
X-110490607-T-C c.1732A>G p.I578V Missense 12/13 - 1
X-110490609-G-A c.1730C>T p.P577L Missense 12/13 - 4
X-110490610-G-A c.1729C>T p.P577S Missense 12/13 - 4
X-110490611-A-G c.1728T>C p.I576= Synonymous 12/13 - 1
X-110490614-G-A c.1725C>T p.D575= Synonymous 12/13 - 1
X-110490618-G-A c.1721C>T p.T574I Missense 12/13 - 1
X-110490619-T-G c.1720A>C p.T574P Missense 12/13 - 1
X-110490620-G-A c.1719C>T p.T573= Synonymous 12/13 - 1
X-110490623-CCT-ACA c.1714_1716delinsTGT p.R572C Missense 12/13 - 1
X-110490623-C-T c.1716G>A p.R572= Synonymous 12/13 - 2
X-110490625-T-G c.1714A>C p.R572= Synonymous 12/13 - 1
X-110490627-C-T c.1712G>A p.R571K Missense 12/13 - 1
X-110490629-G-A c.1710C>T p.Y570= Synonymous 12/13 - 1
X-110490639-G-A c.1700C>T p.A567V Missense 12/13 - 1
X-110490641-C-A c.1698G>T p.Q566H Missense 12/13 - 1
X-110490641-C-G c.1698G>C p.Q566H Missense 12/13 - 1
X-110490644-G-A c.1695C>T p.T565= Synonymous 12/13 - 1
X-110490647-GTC-TTA c.1690_1692delinsTAA p.D564* Nonsense 12/13 - 2
X-110490649-C-A c.1690G>T p.D564Y Missense 12/13 - 2
X-110490649-C-G c.1690G>C p.D564H Missense 12/13 - 1
X-110490649-C-CA c.1689dup p.D564* Nonsense 12/13 - 2
X-110490663-A-G c.1676T>C p.V559A Missense 12/13 - 1
X-110490664-C-A c.1675G>T p.V559F Missense 12/13 - 2
X-110490665-T-C c.1674A>G p.T558= Synonymous 12/13 - 1
X-110490666-G-A c.1673C>T p.T558I Missense 12/13 - 1
X-110490672-T-A c.1667A>T p.K556M Missense 12/13 - 1
X-110490676-G-A c.1663C>T p.Q555* Nonsense 12/13 - 1
X-110490676-G-T c.1663C>A p.Q555K Missense 12/13 - 3
X-110490677-G-T c.1662C>A p.V554= Synonymous 12/13 - 1
X-110490682-G-T c.1657C>A p.P553T Missense 12/13 - 2
X-110490684-G-C c.1655C>G p.S552C Missense 12/13 - 1
X-110490688-G-A c.1651C>T p.R551C Missense 12/13 - 1
X-110490691-C-A c.1648G>T p.V550F Missense 12/13 - 1
X-110490690-ACTTCCT-A c.1643_1648del p.E548_E549del InFrameDeletion 12/13 - 1
X-110490692-TTCCTCC-T c.1641_1646del p.E548_E549del InFrameDeletion 12/13 - 1
X-110490694-C-T c.1645G>A p.E549K Missense 12/13 - 2
X-110490710-G-A c.1629C>T p.I543= Synonymous 12/13 - 1
X-110490715-C-A c.1624G>T p.V542F Missense 12/13 - 1
X-110490722-T-A c.1617A>T p.P539= Synonymous 12/13 - 2
X-110490722-T-C c.1617A>G p.P539= Synonymous 12/13 - 3
X-110490722-T-G c.1617A>C p.P539= Synonymous 12/13 - 2
X-110490730-C-A c.1609G>T p.V537L Missense 12/13 - 1
X-110490730-C-G c.1609G>C p.V537L Missense 12/13 - 1
X-110490732-G-A c.1607C>T p.T536I Missense 12/13 - 1
X-110491097-A-G c.1606+2T>C - IntronicSNV - 11/12 1
X-110491101-T-G c.1604A>C p.E535A Missense 11/13 - 1
X-110491103-A-G c.1602T>C p.N534= Synonymous 11/13 - 1
X-110491104-T-C c.1601A>G p.N534S Missense 11/13 - 1
X-110491106-G-A c.1599C>T p.A533= Synonymous 11/13 - 1
X-110491123-G-T c.1582C>A p.L528M Missense 11/13 - 1
X-110491126-C-T c.1579G>A p.D527N Missense 11/13 - 1
X-110491132-C-T c.1573G>A p.A525T Missense 11/13 - 1
X-110491136-G-A c.1569C>T p.H523= Synonymous 11/13 - 1
X-110491139-A-C c.1566T>G p.V522= Synonymous 11/13 - 1
X-110491139-A-G c.1566T>C p.V522= Synonymous 11/13 - 1
X-110491139-A-T c.1566T>A p.V522= Synonymous 11/13 - 1
X-110491140-A-G c.1565T>C p.V522A Missense 11/13 - 2
X-110491145-G-T c.1560C>A p.I520= Synonymous 11/13 - 1
X-110491146-A-C c.1559T>G p.I520S Missense 11/13 - 1
X-110491146-A-T c.1559T>A p.I520N Missense 11/13 - 1
X-110491148-C-G c.1557G>C p.Q519H Missense 11/13 - 1
X-110491150-G-C c.1555C>G p.Q519E Missense 11/13 - 2
X-110491152-G-A c.1553C>T p.T518I Missense 11/13 - 2
X-110491154-TAA-T c.1550_1551del p.V517Dfs*9 Frameshift 11/13 - 1
X-110491155-A-G c.1550T>C p.V517A Missense 11/13 - 2
X-110491156-C-G c.1549G>C p.V517L Missense 11/13 - 1
X-110491159-C-T c.1546G>A p.V516I Missense 11/13 - 2
X-110491162-T-G c.1543A>C p.K515Q Missense 11/13 - 1
X-110491163-C-A c.1542G>T p.P514= Synonymous 11/13 - 2
X-110491163-C-G c.1542G>C p.P514= Synonymous 11/13 - 2
X-110491163-C-T c.1542G>A p.P514= Synonymous 11/13 - 3
X-110491164-G-T c.1541C>A p.P514Q Missense 11/13 - 2
X-110491173-C-T c.1532G>A p.R511H Missense 11/13 - 1
X-110491174-G-A c.1531C>T p.R511C Missense 11/13 - 2
X-110491176-G-A c.1529C>T p.A510V Missense 11/13 - 2
X-110491178-C-T c.1527G>A p.L509= Synonymous 11/13 - 1
X-110491185-C-T c.1520G>A p.W507* Nonsense 11/13 - 1
X-110491187-G-A c.1518C>T p.C506= Synonymous 11/13 - 1
X-110491190-G-T c.1515C>A p.S505= Synonymous 11/13 - 1
X-110491191-G-T c.1514C>A p.S505Y Missense 11/13 - 1
X-110491193-C-A c.1512G>T p.M504I Missense 11/13 - 2
X-110491193-C-G c.1512G>C p.M504I Missense 11/13 - 2
X-110491193-C-T c.1512G>A p.M504I Missense 11/13 - 2
X-110491195-T-C c.1510A>G p.M504V Missense 11/13 - 1
X-110491199-G-T c.1506C>A p.P502= Synonymous 11/13 - 1
X-110491201-G-T c.1504C>A p.P502T Missense 11/13 - 1
X-110491202-C-A c.1503G>T p.M501I Missense 11/13 - 1
X-110491205-G-T c.1500C>A p.D500E Missense 11/13 - 1
X-110491210-G-T c.1495C>A p.L499M Missense 11/13 - 2
X-110491212-G-A c.1493C>T p.T498I Missense 11/13 - 3
X-110491212-G-C c.1493C>G p.T498S Missense 11/13 - 1
X-110491213-T-A c.1492A>T p.T498S Missense 11/13 - 1
X-110491214-C-A c.1491G>T p.L497= Synonymous 11/13 - 2
X-110491214-C-G c.1491G>C p.L497= Synonymous 11/13 - 2
X-110491214-C-T c.1491G>A p.L497= Synonymous 11/13 - 3
X-110491216-G-A c.1489C>T p.L497= Synonymous 11/13 - 2
X-110491215-A-G c.1490T>C p.L497P Missense 11/13 - 2
X-110491217-T-C c.1488A>G p.E496= Synonymous 11/13 - 1
X-110491218-T-A c.1487A>T p.E496V Missense 11/13 - 2
X-110491219-C-T c.1486G>A p.E496K Missense 11/13 - 3
X-110491796-C-T c.1484+1G>A - IntronicSNV - 10/12 1
X-110491797-C-A c.1484G>T p.R495M Missense 10/13 - 1
X-110491809-G-C c.1472C>G p.P491R Missense 10/13 - 1
X-110491818-G-T c.1463C>A p.S488Y Missense 10/13 - 1
X-110491825-T-C c.1456A>G p.I486V Missense 10/13 - 4
X-110491826-TCT-CCA c.1453_1455delinsTGG p.R485W Missense 10/13 - 1
X-110491827-CT-TG c.1453_1454delinsCA p.R485Q Missense 10/13 - 1
X-110491832-G-A c.1449C>T p.L483= Synonymous 10/13 - 1
X-110491832-G-C c.1449C>G p.L483= Synonymous 10/13 - 1
X-110491832-G-T c.1449C>A p.L483= Synonymous 10/13 - 1
X-110491840-C-T c.1441G>A p.E481K Missense 10/13 - 1
X-110491842-C-T c.1439G>A p.S480N Missense 10/13 - 1
X-110491846-T-G c.1435A>C p.T479P Missense 10/13 - 3
X-110491850-A-C c.1431T>G p.G477= Synonymous 10/13 - 1
X-110491850-A-G c.1431T>C p.G477= Synonymous 10/13 - 1
X-110491850-A-T c.1431T>A p.G477= Synonymous 10/13 - 1
X-110491851-C-G c.1430G>C p.G477A Missense 10/13 - 1
X-110491855-G-A c.1426C>T p.H476Y Missense 10/13 - 1
X-110491856-C-A c.1425G>T p.Q475H Missense 10/13 - 1
X-110491856-C-G c.1425G>C p.Q475H Missense 10/13 - 1
X-110491856-C-T c.1425G>A p.Q475= Synonymous 10/13 - 1
X-110491858-G-A c.1423C>T p.Q475* Nonsense 10/13 - 1
X-110491859-G-A c.1422C>T p.F474= Synonymous 10/13 - 3
X-110491862-C-A c.1419G>T p.M473I Missense 10/13 - 1
X-110491865-G-A c.1416C>T p.T472= Synonymous 10/13 - 1
X-110491869-G-A c.1412C>T p.P471L Missense 10/13 - 2
X-110491889-C-T c.1392G>A p.K464= Synonymous 10/13 - 1
X-110491891-T-G c.1390A>C p.K464Q Missense 10/13 - 1
X-110491895-C-A c.1386G>T p.L462= Synonymous 10/13 - 2
X-110491895-C-G c.1386G>C p.L462= Synonymous 10/13 - 2
X-110491895-C-T c.1386G>A p.L462= Synonymous 10/13 - 4
X-110491897-G-A c.1384C>T p.L462= Synonymous 10/13 - 2
X-110491896-A-T c.1385T>A p.L462Q Missense 10/13 - 1
X-110491921-G-A c.1360C>T p.R454C Missense 10/13 - 7
X-110491921-G-T c.1360C>A p.R454S Missense 10/13 - 2
X-110491923-G-T c.1358C>A p.T453N Missense 10/13 - 1
X-110491925-G-T c.1356C>A p.D452E Missense 10/13 - 1
X-110491944-C-T c.1337G>A p.G446E Missense 10/13 - 1
X-110491949-ACG-CCA c.1330_1332delinsTGG p.R444W Missense 10/13 - 1
X-110491955-C-T c.1326G>A p.Q442= Synonymous 10/13 - 1
X-110491961-G-A c.1320C>T p.Y440= Synonymous 10/13 - 1
X-110491962-T-C c.1319A>G p.Y440C Missense 10/13 - 1
X-110491966-G-T c.1315C>A p.L439I Missense 10/13 - 1
X-110491970-G-A c.1311C>T p.H437= Synonymous 10/13 - 2
X-110491972-G-A c.1309C>T p.H437Y Missense 10/13 - 2
X-110491977-C-T c.1304G>A p.R435H Missense 10/13 - 2
X-110491978-G-A c.1303C>T p.R435C Missense 10/13 - 3
X-110491979-G-A c.1302C>T p.F434= Synonymous 10/13 - 1
X-110491980-A-G c.1301T>C p.F434S Missense 10/13 - 1
X-110491986-C-T c.1295G>A p.R432H Missense 10/13 - 6
X-110491987-G-A c.1294C>T p.R432C Missense 10/13 - 1
X-110491988-G-C c.1293C>G p.N431K Missense 10/13 - 2
X-110491988-G-T c.1293C>A p.N431K Missense 10/13 - 2
X-110491989-T-C c.1292A>G p.N431S Missense 10/13 - 4
X-110491990-T-C c.1291A>G p.N431D Missense 10/13 - 1
X-110491994-C-T c.1287G>A p.E429= Synonymous 10/13 - 1
X-110491999-C-A c.1282G>T p.V428L Missense 10/13 - 1
X-110492153-C-A c.1281+10G>T - IntronicSNV - 9/12 1
X-110492153-C-T c.1281+10G>A - IntronicSNV - 9/12 1
X-110492162-C-T c.1281+1G>A - IntronicSNV - 9/12 1
X-110492165-T-A c.1279A>T p.K427* Nonsense 9/13 - 2
X-110492165-T-C c.1279A>G p.K427E Missense 9/13 - 2
X-110492169-G-A c.1275C>T p.L425= Synonymous 9/13 - 2
X-110492169-G-C c.1275C>G p.L425= Synonymous 9/13 - 1
X-110492169-G-T c.1275C>A p.L425= Synonymous 9/13 - 2
X-110492172-C-T c.1272G>A p.E424= Synonymous 9/13 - 1
X-110492174-C-G c.1270G>C p.E424Q Missense 9/13 - 4
X-110492178-G-A c.1266C>T p.G422= Synonymous 9/13 - 1
X-110492179-C-G c.1265G>C p.G422A Missense 9/13 - 1
X-110492182-A-G c.1262T>C p.I421T Missense 9/13 - 1
X-110492184-G-A c.1260C>T p.I420= Synonymous 9/13 - 1
X-110492184-G-T c.1260C>A p.I420= Synonymous 9/13 - 1
X-110492193-G-C c.1251C>G p.D417E Missense 9/13 - 2
X-110492193-G-T c.1251C>A p.D417E Missense 9/13 - 2
X-110492198-G-A c.1246C>T p.P416S Missense 9/13 - 1
X-110492199-T-C c.1245A>G p.R415= Synonymous 9/13 - 2
X-110492209-C-A c.1235G>T p.R412L Missense 9/13 - 1
X-110492209-C-T c.1235G>A p.R412Q Missense 9/13 - 2
X-110492210-G-A c.1234C>T p.R412* Nonsense 9/13 - 1
X-110492212-C-T c.1232G>A p.R411H Missense 9/13 - 2
X-110492213-G-A c.1231C>T p.R411C Missense 9/13 - 1
X-110492221-C-A c.1223G>T p.R408L Missense 9/13 - 3
X-110492221-C-T c.1223G>A p.R408H Missense 9/13 - 1
X-110492223-C-A c.1221G>T p.L407= Synonymous 9/13 - 1
X-110492223-C-G c.1221G>C p.L407= Synonymous 9/13 - 1
X-110492223-C-T c.1221G>A p.L407= Synonymous 9/13 - 1
X-110492225-G-A c.1219C>T p.L407= Synonymous 9/13 - 1
X-110492224-A-T c.1220T>A p.L407Q Missense 9/13 - 1
X-110492227-T-C c.1217A>G p.D406G Missense 9/13 - 1
X-110492228-C-A c.1216G>T p.D406Y Missense 9/13 - 1
X-110492229-C-A c.1215G>T p.K405N Missense 9/13 - 1
X-110492231-T-A c.1213A>T p.K405* Nonsense 9/13 - 1
X-110492242-G-A c.1202C>T p.S401L Missense 9/13 - 1
X-110492243-A-G c.1201T>C p.S401P Missense 9/13 - 1
X-110492246-T-A c.1198A>T p.M400L Missense 9/13 - 1
X-110492250-G-A c.1194C>T p.V398= Synonymous 9/13 - 1
X-110492250-G-C c.1194C>G p.V398= Synonymous 9/13 - 1
X-110492250-G-T c.1194C>A p.V398= Synonymous 9/13 - 1
X-110492257-T-C c.1187A>G p.H396R Missense 9/13 - 1
X-110492263-T-C c.1181A>G p.D394G Missense 9/13 - 2
X-110492273-C-T c.1171G>A p.V391M Missense 9/13 - 1
X-110494017-T-A c.1158+128A>T - IntronicSNV - 8/12 2
X-110494098-C-T c.1158+47G>A - IntronicSNV - 8/12 1
X-110494147-G-T c.1156C>A p.Q386K Missense 8/13 - 5
X-110494154-C-A c.1149G>T p.Q383H Missense 8/13 - 1
X-110494154-C-G c.1149G>C p.Q383H Missense 8/13 - 1
X-110494157-C-G c.1146G>C p.L382= Synonymous 8/13 - 1
X-110494160-G-C c.1143C>G p.F381L Missense 8/13 - 2
X-110494160-G-T c.1143C>A p.F381L Missense 8/13 - 2
X-110494162-A-G c.1141T>C p.F381L Missense 8/13 - 2
X-110494168-C-T c.1135G>A p.D379N Missense 8/13 - 4
X-110494171-G-A c.1132C>T p.R378C Missense 8/13 - 1
X-110494171-G-C c.1132C>G p.R378G Missense 8/13 - 1
X-110494181-G-T c.1122C>A p.C374* Nonsense 8/13 - 1
X-110494182-C-T c.1121G>A p.C374Y Missense 8/13 - 1
X-110494185-C-T c.1118G>A p.G373D Missense 8/13 - 1
X-110494190-T-G c.1113A>C p.S371= Synonymous 8/13 - 1
X-110494191-G-C c.1112C>G p.S371* Nonsense 8/13 - 2
X-110494191-G-T c.1112C>A p.S371* Nonsense 8/13 - 2
X-110494194-C-T c.1109G>A p.R370H Missense 8/13 - 2
X-110494195-G-A c.1108C>T p.R370C Missense 8/13 - 1
X-110494199-C-A c.1104G>T p.M368I Missense 8/13 - 2
X-110494199-C-G c.1104G>C p.M368I Missense 8/13 - 2
X-110494199-C-T c.1104G>A p.M368I Missense 8/13 - 5
X-110494200-A-C c.1103T>G p.M368R Missense 8/13 - 1
X-110494201-T-A c.1102A>T p.M368L Missense 8/13 - 1
X-110494201-T-C c.1102A>G p.M368V Missense 8/13 - 2
X-110494202-C-G c.1101G>C p.L367= Synonymous 8/13 - 1
X-110494206-G-A c.1097C>T p.P366L Missense 8/13 - 6
X-110494207-G-A c.1096C>T p.P366S Missense 8/13 - 2
X-110494210-C-T c.1093G>A p.D365N Missense 8/13 - 7
X-110494212-T-C c.1091A>G p.D364G Missense 8/13 - 1
X-110494216-C-T c.1087G>A p.D363N Missense 8/13 - 1
X-110494221-G-A c.1082C>T p.T361I Missense 8/13 - 1
X-110494223-C-T c.1080G>A p.W360* Nonsense 8/13 - 2
X-110494224-C-T c.1079G>A p.W360* Nonsense 8/13 - 1
X-110494226-G-T c.1077C>A p.C359* Nonsense 8/13 - 3
X-110494230-C-T c.1073G>A p.G358E Missense 8/13 - 1
X-110494231-C-G c.1072G>C p.G358R Missense 8/13 - 2
X-110494231-C-T c.1072G>A p.G358R Missense 8/13 - 3
X-110494232-C-A c.1071G>T p.L357F Missense 8/13 - 2
X-110494232-C-G c.1071G>C p.L357F Missense 8/13 - 1
X-110494233-A-T c.1070T>A p.L357* Nonsense 8/13 - 1
X-110494234-A-C c.1069T>G p.L357V Missense 8/13 - 1
X-110494236-A-G c.1067T>C p.V356A Missense 8/13 - 1
X-110494237-C-A c.1066G>T p.V356L Missense 8/13 - 1
X-110494237-C-G c.1066G>C p.V356L Missense 8/13 - 1
X-110494239-G-A c.1064C>T p.S355L Missense 8/13 - 1
X-110494239-G-T c.1064C>A p.S355* Nonsense 8/13 - 1
X-110494243-C-T c.1060G>A p.E354K Missense 8/13 - 1
X-110494250-C-A c.1053G>T p.K351N Missense 8/13 - 3
X-110494250-C-G c.1053G>C p.K351N Missense 8/13 - 1
X-110494254-C-T c.1049G>A p.R350Q Missense 8/13 - 1
X-110494255-G-A c.1048C>T p.R350* Nonsense 8/13 - 8
X-110494256-G-A c.1047C>T p.G349= Synonymous 8/13 - 2
X-110494260-A-C c.1043T>G p.F348C Missense 8/13 - 1
X-110494261-A-G c.1042T>C p.F348L Missense 8/13 - 1
X-110494264-T-C c.1039A>G p.I347V Missense 8/13 - 2
X-110494267-G-A c.1036C>T p.P346S Missense 8/13 - 5
X-110494269-T-C c.1034A>G p.N345S Missense 8/13 - 1
X-110494272-T-C c.1031A>G p.N344S Missense 8/13 - 2
X-110494276-C-A c.1027G>T p.V343L Missense 8/13 - 1
X-110494277-A-C c.1026T>G p.N342K Missense 8/13 - 1
X-110494277-A-G c.1026T>C p.N342= Synonymous 8/13 - 1
X-110494277-A-T c.1026T>A p.N342K Missense 8/13 - 1
X-110494278-T-C c.1025A>G p.N342S Missense 8/13 - 1
X-110494278-T-G c.1025A>C p.N342T Missense 8/13 - 1
X-110494281-C-T c.1022G>A p.R341H Missense 8/13 - 1
X-110494282-G-A c.1021C>T p.R341C Missense 8/13 - 2
X-110494287-A-G c.1016T>C p.V339A Missense 8/13 - 1
X-110494288-C-A c.1015G>T p.V339F Missense 8/13 - 1
X-110494294-G-C c.1009C>G p.L337V Missense 8/13 - 1
X-110494299-T-G c.1004A>C p.H335P Missense 8/13 - 1
X-110494303-A-C c.1000T>G p.F334V Missense 8/13 - 1
X-110494307-GCG-CTT c.994_996delinsAAG p.R332K Missense 8/13 - 1
X-110494308-C-A c.995G>T p.R332L Missense 8/13 - 1
X-110494308-C-T c.995G>A p.R332H Missense 8/13 - 5
X-110494309-G-A c.994C>T p.R332C Missense 8/13 - 1
X-110494310-G-T c.993C>A p.C331* Nonsense 8/13 - 1
X-110494311-C-T c.992G>A p.C331Y Missense 8/13 - 1
X-110494317-T-G c.986A>C p.D329A Missense 8/13 - 2
X-110494320-T-A c.983A>T p.E328V Missense 8/13 - 1
X-110494321-C-T c.982G>A p.E328K Missense 8/13 - 2
X-110494322-C-A c.981G>T p.L327F Missense 8/13 - 2
X-110494322-C-G c.981G>C p.L327F Missense 8/13 - 1
X-110494325-G-A c.978C>T p.S326= Synonymous 8/13 - 1
X-110494325-G-T c.978C>A p.S326R Missense 8/13 - 1
X-110494328-C-A c.975G>T p.M325I Missense 8/13 - 3
X-110494328-C-G c.975G>C p.M325I Missense 8/13 - 2
X-110494328-C-T c.975G>A p.M325I Missense 8/13 - 2
X-110494329-A-C c.974T>G p.M325R Missense 8/13 - 1
X-110494402-G-C c.971+35C>G - IntronicSNV - 7/12 1
X-110494444-C-G c.964G>C p.E322Q Missense 7/13 - 1
X-110494449-T-C c.959A>G p.D320G Missense 7/13 - 1
X-110494450-C-T c.958G>A p.D320N Missense 7/13 - 1
X-110494452-T-C c.956A>G p.D319G Missense 7/13 - 3
X-110494453-C-A c.955G>T p.D319Y Missense 7/13 - 1
X-110494454-A-C c.954T>G p.S318= Synonymous 7/13 - 1
X-110494454-A-G c.954T>C p.S318= Synonymous 7/13 - 1
X-110494454-A-T c.954T>A p.S318= Synonymous 7/13 - 1
X-110494461-A-G c.947T>C p.V316A Missense 7/13 - 1
X-110494463-A-G c.945T>C p.L315= Synonymous 7/13 - 1
X-110494469-CA-AT c.938_939delinsAT p.L313H Missense 7/13 - 1
X-110494471-G-C c.937C>G p.L313V Missense 7/13 - 5
X-110494471-G-T c.937C>A p.L313M Missense 7/13 - 1
X-110494472-G-A c.936C>T p.N312= Synonymous 7/13 - 1
X-110494472-G-T c.936C>A p.N312K Missense 7/13 - 1
X-110494479-C-T c.929G>A p.R310H Missense 7/13 - 3
X-110494480-G-A c.928C>T p.R310C Missense 7/13 - 4
X-110494483-C-CA c.924_925insT p.D309* Nonsense 7/13 - 1
X-110494483-C-T c.925G>A p.D309N Missense 7/13 - 2
X-110494488-G-A c.920C>T p.A307V Missense 7/13 - 1
X-110494492-T-G c.916A>C p.T306P Missense 7/13 - 1
X-110494493-C-A c.915G>T p.L305= Synonymous 7/13 - 1
X-110494493-C-G c.915G>C p.L305= Synonymous 7/13 - 1
X-110494493-C-T c.915G>A p.L305= Synonymous 7/13 - 1
X-110494495-G-A c.913C>T p.L305= Synonymous 7/13 - 2
X-110494499-C-T c.909G>A p.Q303= Synonymous 7/13 - 1
X-110494499-GCTGCCACTC-G c.901_909del p.E301_Q303del InFrameDeletion 7/13 - 1
X-110494512-G-C c.896C>G p.S299C Missense 7/13 - 1
X-110494777-A-C c.893T>G p.I298S Missense 6/13 - 1
X-110494810-C-T c.860G>A p.G287E Missense 6/13 - 3
X-110494811-C-T c.859G>A p.G287R Missense 6/13 - 3
X-110494816-G-A c.854C>T p.P285L Missense 6/13 - 2
X-110494813-AAGGGGTTTCTC-A c.846_856del p.R283Gfs*11 Frameshift 6/13 - 1
X-110494821-T-C c.849A>G p.R283= Synonymous 6/13 - 1
X-110494823-T-TA c.846_847insT p.R283* Nonsense 6/13 - 2
X-110494827-GCG-CTT c.841_843delinsAAG p.R281K Missense 6/13 - 1
X-110494828-C-A c.842G>T p.R281L Missense 6/13 - 1
X-110494828-C-T c.842G>A p.R281H Missense 6/13 - 2
X-110494829-G-A c.841C>T p.R281C Missense 6/13 - 4
X-110494829-G-C c.841C>G p.R281G Missense 6/13 - 3
X-110494839-C-A c.831G>T p.V277= Synonymous 6/13 - 1
X-110494839-C-G c.831G>C p.V277= Synonymous 6/13 - 1
X-110494839-C-T c.831G>A p.V277= Synonymous 6/13 - 1
X-110494841-C-A c.829G>T p.V277L Missense 6/13 - 1
X-110494841-C-G c.829G>C p.V277L Missense 6/13 - 9
X-110494843-T-C c.827A>G p.K276R Missense 6/13 - 1
X-110494845-C-T c.825G>A p.E275= Synonymous 6/13 - 2
X-110494849-G-A c.821C>T p.A274V Missense 6/13 - 3
X-110494857-G-A c.813C>T p.V271= Synonymous 6/13 - 3
X-110494865-C-G c.805G>C p.V269L Missense 6/13 - 1
X-110494869-TCT-ACA c.799_801delinsTGT p.R267C Missense 6/13 - 1
X-110494870-C-A c.800G>T p.R267I Missense 6/13 - 3
X-110494870-CT-AG c.799_800inv p.R267L Missense 6/13 - 1
X-110494876-CC-TT c.793_794delinsAA p.G265K Missense 6/13 - 1
X-110494876-C-T c.794G>A p.G265E Missense 6/13 - 1
X-110494877-C-T c.793G>A p.G265R Missense 6/13 - 1
X-110494882-C-T c.788G>A p.R263H Missense 6/13 - 1
X-110494883-G-A c.787C>T p.R263C Missense 6/13 - 9
X-110494891-C-T c.779G>A p.R260H Missense 6/13 - 3
X-110494892-G-A c.778C>T p.R260C Missense 6/13 - 2
X-110494895-T-G c.775A>C p.I259L Missense 6/13 - 1
X-110494896-A-C c.774T>G p.D258E Missense 6/13 - 2
X-110494896-A-T c.774T>A p.D258E Missense 6/13 - 2
X-110494902-C-A c.768G>T p.M256I Missense 6/13 - 2
X-110494902-C-G c.768G>C p.M256I Missense 6/13 - 2
X-110494902-C-T c.768G>A p.M256I Missense 6/13 - 2
X-110494909-T-C c.761A>G p.Y254C Missense 6/13 - 2
X-110494912-G-C c.758C>G p.T253S Missense 6/13 - 1
X-110494913-T-A c.757A>T p.T253S Missense 6/13 - 2
X-110494918-C-A c.752G>T p.G251V Missense 6/13 - 1
X-110494919-C-T c.751G>A p.G251S Missense 6/13 - 2
X-110494924-A-G c.746T>C p.L249P Missense 6/13 - 1
X-110494925-G-T c.745C>A p.L249M Missense 6/13 - 1
X-110494926-C-A c.744G>T p.L248= Synonymous 6/13 - 1
X-110494926-C-G c.744G>C p.L248= Synonymous 6/13 - 1
X-110494926-C-T c.744G>A p.L248= Synonymous 6/13 - 1
X-110494928-G-A c.742C>T p.L248= Synonymous 6/13 - 2
X-110494932-C-T c.738G>A p.W246* Nonsense 6/13 - 3
X-110494937-C-T c.733G>A p.D245N Missense 6/13 - 2
X-110494943-C-G c.727G>C p.E243Q Missense 6/13 - 1
X-110494945-A-G c.725T>C p.V242A Missense 6/13 - 2
X-110494946-C-A c.724G>T p.V242F Missense 6/13 - 1
X-110494947-T-G c.723A>C p.E241D Missense 6/13 - 1
X-110494949-C-T c.721G>A p.E241K Missense 6/13 - 4
X-110494952-G-C c.718C>G p.Q240E Missense 6/13 - 1
X-110494958-C-T c.712G>A p.E238K Missense 6/13 - 1
X-110494960-T-A c.710A>T p.Q237L Missense 6/13 - 1
X-110494965-G-T c.705C>A p.P235= Synonymous 6/13 - 1
X-110494967-G-A c.703C>T p.P235S Missense 6/13 - 2
X-110494970-A-G c.700T>C p.S234P Missense 6/13 - 1
X-110495008-G-C c.700-38C>G - IntronicSNV - 5/12 2
X-110495540-T-C c.694A>G p.I232V Missense 5/13 - 1
X-110495542-G-A c.692C>T p.S231F Missense 5/13 - 2
X-110495553-C-A c.681G>T p.L227= Synonymous 5/13 - 1
X-110495553-C-G c.681G>C p.L227= Synonymous 5/13 - 1
X-110495553-C-T c.681G>A p.L227= Synonymous 5/13 - 2
X-110495555-G-A c.679C>T p.L227= Synonymous 5/13 - 1
X-110495559-A-C c.675T>G p.G225= Synonymous 5/13 - 1
X-110495559-A-G c.675T>C p.G225= Synonymous 5/13 - 1
X-110495559-A-T c.675T>A p.G225= Synonymous 5/13 - 1
X-110495572-G-C c.662C>G p.T221R Missense 5/13 - 1
X-110495579-A-G c.655T>C p.Y219H Missense 5/13 - 1
X-110495581-A-G c.653T>C p.L218P Missense 5/13 - 1
X-110495584-TC-AT c.649_650delinsAT p.E217I Missense 5/13 - 1
X-110495589-G-A c.645C>T p.F215= Synonymous 5/13 - 2
X-110495592-TA-AT c.641_642delinsAT p.L214H Missense 5/13 - 1
X-110495596-T-A c.638A>T p.K213M Missense 5/13 - 1
X-110495602-T-G c.632A>C p.K211T Missense 5/13 - 1
X-110495606-C-T c.628G>A p.E210K Missense 5/13 - 4
X-110495607-C-A c.627G>T p.E209D Missense 5/13 - 1
X-110495607-C-G c.627G>C p.E209D Missense 5/13 - 1
X-110495609-C-A c.625G>T p.E209* Nonsense 5/13 - 1
X-110495609-C-T c.625G>A p.E209K Missense 5/13 - 1
X-110495613-A-C c.621T>G p.L207= Synonymous 5/13 - 1
X-110495613-A-G c.621T>C p.L207= Synonymous 5/13 - 1
X-110495613-A-T c.621T>A p.L207= Synonymous 5/13 - 1
X-110495619-A-C c.615T>G p.T205= Synonymous 5/13 - 2
X-110495619-A-G c.615T>C p.T205= Synonymous 5/13 - 2
X-110495619-A-T c.615T>A p.T205= Synonymous 5/13 - 5
X-110495624-A-T c.610T>A p.Y204N Missense 5/13 - 1
X-110495637-C-A c.597G>T p.M199I Missense 5/13 - 2
X-110495637-C-G c.597G>C p.M199I Missense 5/13 - 2
X-110495637-C-T c.597G>A p.M199I Missense 5/13 - 3
X-110495638-A-T c.596T>A p.M199K Missense 5/13 - 1
X-110495639-T-C c.595A>G p.M199V Missense 5/13 - 1
X-110495642-C-T c.592G>A p.D198N Missense 5/13 - 1
X-110495646-A-G c.588T>C p.T196= Synonymous 5/13 - 1
X-110495656-A-T c.578T>A p.L193* Nonsense 5/13 - 1
X-110495659-G-T c.575C>A p.T192K Missense 5/13 - 1
X-110495661-G-A c.573C>T p.G191= Synonymous 5/13 - 1
X-110495661-G-C c.573C>G p.G191= Synonymous 5/13 - 2
X-110495661-G-T c.573C>A p.G191= Synonymous 5/13 - 1
X-110495663-C-G c.571G>C p.G191R Missense 5/13 - 1
X-110495664-C-A c.570G>T p.T190= Synonymous 5/13 - 1
X-110495667-G-A c.567C>T p.F189= Synonymous 5/13 - 1
X-110495672-C-A c.562G>T p.D188Y Missense 5/13 - 3
X-110495673-C-A c.561G>T p.V187= Synonymous 5/13 - 1
X-110495681-T-C c.553A>G p.I185V Missense 5/13 - 1
X-110495694-C-T c.540G>A p.L180= Synonymous 5/13 - 1
X-110495696-A-G c.538T>C p.L180= Synonymous 5/13 - 1
X-110495698-C-G c.536G>C p.G179A Missense 5/13 - 1
X-110495710-T-C c.524A>G p.E175G Missense 5/13 - 1
X-110495711-C-A c.523G>T p.E175* Nonsense 5/13 - 2
X-110495714-A-T c.520T>A p.Y174N Missense 5/13 - 2
X-110495718-G-A c.516C>T p.G172= Synonymous 5/13 - 1
X-110495724-C-A c.510G>T p.L170= Synonymous 5/13 - 1
X-110496239-G-T c.503C>A p.A168E Missense 4/13 - 1
X-110496240-C-T c.502G>A p.A168T Missense 4/13 - 1
X-110496246-C-T c.496G>A p.A166T Missense 4/13 - 2
X-110496252-C-T c.490G>A p.E164K Missense 4/13 - 3
X-110496253-C-A c.489G>T p.L163= Synonymous 4/13 - 1
X-110496253-C-G c.489G>C p.L163= Synonymous 4/13 - 1
X-110496253-C-T c.489G>A p.L163= Synonymous 4/13 - 3
X-110496255-G-A c.487C>T p.L163= Synonymous 4/13 - 1
X-110496261-C-T c.481G>A p.A161T Missense 4/13 - 1
X-110496262-A-G c.480T>C p.N160= Synonymous 4/13 - 1
X-110496265-C-A c.477G>T p.W159C Missense 4/13 - 1
X-110496273-C-A c.469G>T p.E157* Nonsense 4/13 - 1
X-110496280-G-T c.462C>A p.S154= Synonymous 4/13 - 1
X-110496281-G-A c.461C>T p.S154F Missense 4/13 - 2
X-110496293-G-T c.449C>A p.S150Y Missense 4/13 - 2
X-110496295-G-A c.447C>T p.F149= Synonymous 4/13 - 3
X-110496298-G-A c.444C>T p.V148= Synonymous 4/13 - 1
X-110496304-A-C c.438T>G p.D146E Missense 4/13 - 1
X-110496306-C-G c.436G>C p.D146H Missense 4/13 - 1
X-110496308-C-G c.434G>C p.G145A Missense 4/13 - 1
X-110496309-C-A c.433G>T p.G145* Nonsense 4/13 - 1
X-110496310-G-A c.432C>T p.N144= Synonymous 4/13 - 3
X-110496321-G-T c.421C>A p.P141T Missense 4/13 - 1
X-110496350-C-G c.392G>C p.W131S Missense 4/13 - 1
X-110496354-C-A c.388G>T p.E130* Nonsense 4/13 - 3
X-110496354-C-T c.388G>A p.E130K Missense 4/13 - 3
X-110496356-C-A c.386G>T p.G129V Missense 4/13 - 1
X-110496356-C-T c.386G>A p.G129E Missense 4/13 - 1
X-110496358-A-G c.384T>C p.F128= Synonymous 4/13 - 1
X-110496359-A-C c.383T>G p.F128C Missense 4/13 - 1
X-110496363-G-T c.379C>A p.H127N Missense 4/13 - 1
X-110496364-C-A c.378G>T p.W126C Missense 4/13 - 1
X-110496364-C-G c.378G>C p.W126C Missense 4/13 - 2
X-110496366-A-G c.376T>C p.W126R Missense 4/13 - 2
X-110496366-A-T c.376T>A p.W126R Missense 4/13 - 1
X-110496371-C-T c.371G>A p.R124H Missense 4/13 - 1
X-110496372-G-A c.370C>T p.R124C Missense 4/13 - 9
X-110496372-G-T c.370C>A p.R124S Missense 4/13 - 1
X-110496378-G-A c.364C>T p.H122Y Missense 4/13 - 13
X-110496378-TG-T c.364del p.H122Tfs*14 Frameshift 4/13 - 3
X-110496378-GA-G c.363del p.H122Tfs*14 Frameshift 4/13 - 1
X-110496385-C-T c.357G>A p.G119= Synonymous 4/13 - 3
X-110496390-C-A c.352G>T p.A118S Missense 4/13 - 2
X-110496394-T-C c.348A>G p.K116= Synonymous 4/13 - 1
X-110496397-T-G c.345A>C p.E115D Missense 4/13 - 1
X-110496398-T-G c.344A>C p.E115A Missense 4/13 - 1
X-110496399-C-T c.343G>A p.E115K Missense 4/13 - 4
X-110496399-C-CT c.342dup p.E115Rfs*19 Frameshift 4/13 - 1
X-110496401-G-GT c.340dup p.T114Nfs*20 Frameshift 4/13 - 5
X-110496407-T-C c.335A>G p.Q112R Missense 4/13 - 1
X-110496410-G-A c.332C>T p.P111L Missense 4/13 - 2
X-110496411-G-A c.331C>T p.P111S Missense 4/13 - 4
X-110496414-C-T c.328G>A p.D110N Missense 4/13 - 3
X-110496419-T-A c.323A>T p.E108V Missense 4/13 - 1
X-110496420-C-A c.322G>T p.E108* Nonsense 4/13 - 1
X-110496420-C-T c.322G>A p.E108K Missense 4/13 - 3
X-110496423-G-T c.319C>A p.Q107K Missense 4/13 - 2
X-110496426-C-T c.316G>A p.E106K Missense 4/13 - 2
X-110496427-C-T c.315G>A p.K105= Synonymous 4/13 - 1
X-110496428-T-G c.314A>C p.K105T Missense 4/13 - 1
X-110496432-G-A c.310C>T p.H104Y Missense 4/13 - 1
X-110496436-G-A c.306C>T p.P102= Synonymous 4/13 - 1
X-110496436-G-C c.306C>G p.P102= Synonymous 4/13 - 1
X-110496436-G-T c.306C>A p.P102= Synonymous 4/13 - 1
X-110496438-G-A c.304C>T p.P102S Missense 4/13 - 1
X-110497414-G-A c.297+86C>T - IntronicSNV - 3/12 1
X-110497499-C-A c.297+1G>T - IntronicSNV - 3/12 1
X-110497500-C-A c.297G>T p.K99N Missense 3/13 - 5
X-110497504-GT-CC c.292_293delinsGG p.T98G Missense 3/13 - 1
X-110497506-C-A c.291G>T p.W97C Missense 3/13 - 2
X-110497506-CC-AA c.290_291delinsTT p.W97F Missense 3/13 - 1
X-110497506-C-G c.291G>C p.W97C Missense 3/13 - 2
X-110497507-C-A c.290G>T p.W97L Missense 3/13 - 2
X-110497509-A-G c.288T>C p.H96= Synonymous 3/13 - 1
X-110497509-A-T c.288T>A p.H96Q Missense 3/13 - 1
X-110497516-CT-C c.281del p.E94Gfs*42 Frameshift 3/13 - 2
X-110497517-C-T c.280G>A p.E94K Missense 3/13 - 5
X-110497519-T-C c.278A>G p.Q93R Missense 3/13 - 3
X-110497525-GC-G c.271del p.A91Lfs*45 Frameshift 3/13 - 1
X-110497529-A-G c.268T>C p.L90= Synonymous 3/13 - 2
X-110497533-G-A c.264C>T p.S88= Synonymous 3/13 - 2
X-110497534-G-A c.263C>T p.S88F Missense 3/13 - 9
X-110497534-G-GA c.262dup p.S88Ffs*18 Frameshift 3/13 - 1
X-110497541-C-A c.256G>T p.A86S Missense 3/13 - 1
X-110497548-C-A c.249G>T p.M83I Missense 3/13 - 1
X-110497548-C-G c.249G>C p.M83I Missense 3/13 - 1
X-110497548-C-T c.249G>A p.M83I Missense 3/13 - 1
X-110497549-A-G c.248T>C p.M83T Missense 3/13 - 1
X-110497552-G-T c.245C>A p.P82Q Missense 3/13 - 1
X-110497557-G-C c.240C>G p.H80Q Missense 3/13 - 1
X-110497557-G-T c.240C>A p.H80Q Missense 3/13 - 1
X-110497560-CCC-GCT c.235_237delinsAGC p.G79S Missense 3/13 - 1
X-110497564-A-C c.233T>G p.L78R Missense 3/13 - 1
X-110497565-G-A c.232C>T p.L78= Synonymous 3/13 - 1
X-110497566-TCT-CCA c.229_231delinsTGG p.R77W Missense 3/13 - 1
X-110497569-C-A c.228G>T p.G76= Synonymous 3/13 - 3
X-110497569-C-G c.228G>C p.G76= Synonymous 3/13 - 3
X-110497569-C-T c.228G>A p.G76= Synonymous 3/13 - 5
X-110497570-C-G c.227G>C p.G76A Missense 3/13 - 1
X-110497577-T-C c.220A>G p.T74A Missense 3/13 - 1
X-110497580-G-A c.217C>T p.L73= Synonymous 3/13 - 2
X-110497584-G-T c.213C>A p.H71Q Missense 3/13 - 1
X-110497585-T-C c.212A>G p.H71R Missense 3/13 - 1
X-110497588-T-A c.209A>T p.N70I Missense 3/13 - 1
X-110497591-C-A c.206G>T p.S69I Missense 3/13 - 1
X-110497591-C-T c.206G>A p.S69N Missense 3/13 - 2
X-110497605-A-C c.192T>G p.I64M Missense 3/13 - 1
X-110497608-C-T c.189G>A p.L63= Synonymous 3/13 - 2
X-110497609-A-G c.188T>C p.L63P Missense 3/13 - 1
X-110497611-A-G c.186T>C p.H62= Synonymous 3/13 - 1
X-110497615-G-A c.182C>T p.P61L Missense 3/13 - 5
X-110497620-A-G c.177T>C p.D59= Synonymous 3/13 - 1
X-110497621-T-A c.176A>T p.D59V Missense 3/13 - 2
X-110497623-A-C c.174T>G p.C58W Missense 3/13 - 1
X-110497624-C-G c.173G>C p.C58S Missense 3/13 - 3
X-110497625-A-T c.172T>A p.C58S Missense 3/13 - 2
X-110507000-C-T c.165G>A p.Q55= Synonymous 2/13 - 1
X-110507006-AC-TT c.158_159delinsAA p.R53Q Missense 2/13 - 1
X-110507007-C-A c.158G>T p.R53L Missense 2/13 - 1
X-110507007-C-T c.158G>A p.R53H Missense 2/13 - 3
X-110507011-T-A c.154A>T p.K52* Nonsense 2/13 - 1
X-110507012-C-A c.153G>T p.W51C Missense 2/13 - 3
X-110507012-C-T c.153G>A p.W51* Nonsense 2/13 - 4
X-110507013-C-T c.152G>A p.W51* Nonsense 2/13 - 3
X-110507014-A-C c.151T>G p.W51G Missense 2/13 - 1
X-110507016-A-G c.149T>C p.V50A Missense 2/13 - 1
X-110507017-C-G c.148G>C p.V50L Missense 2/13 - 1
X-110507021-C-T c.144G>A p.K48= Synonymous 2/13 - 1
X-110507025-C-T c.140G>A p.G47E Missense 2/13 - 1
X-110507040-T-A c.125A>T p.N42I Missense 2/13 - 1
X-110507056-C-G c.109G>C p.D37H Missense 2/13 - 4
X-110507060-C-A c.105G>T p.E35D Missense 2/13 - 6
X-110507060-C-G c.105G>C p.E35D Missense 2/13 - 4
X-110507063-A-G c.102T>C p.P34= Synonymous 2/13 - 1
X-110507064-G-A c.101C>T p.P34L Missense 2/13 - 1
X-110507073-G-A c.92C>T p.T31I Missense 2/13 - 1
X-110507089-G-A c.76C>T p.L26F Missense 2/13 - 1
X-110507092-T-A c.73A>T p.R25* Nonsense 2/13 - 1
X-110507109-T-C c.56A>G p.E19G Missense 2/13 - 1
X-110507112-T-C c.53A>G p.Q18R Missense 2/13 - 1
X-110507123-C-T c.42G>A p.Q14= Synonymous 2/13 - 3
X-110507135-G-A c.30C>T p.N10= Synonymous 2/13 - 1
X-110507143-A-G c.22T>C p.F8L Missense 2/13 - 1
X-110507147-C-A c.18G>T p.K6N Missense 2/13 - 1
X-110507147-C-G c.18G>C p.K6N Missense 2/13 - 1
X-110507156-GA-G c.9del p.P4Lfs*2 Frameshift 2/13 - 1
X-110507159-A-G c.6T>C p.G2= Synonymous 2/13 - 1
X-110507219-C-T c.-15-40G>A - IntronicSNV - 1/12 1