SIGLEC11

SIGLEC11 sialic acid binding Ig like lectin 11

Annotation transcript: NM_052884.3

700 unique variant annotations were identified in 272 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
19-50453228-C-A c.2096G>T p.*699Lext*70 Missense 11/11 - 2
19-50453230-C-T c.2094G>A p.K698= Synonymous 11/11 - 2
19-50453235-G-A c.2089C>T p.P697S Missense 11/11 - 4
19-50453242-C-A c.2082G>T p.G694= Synonymous 11/11 - 2
19-50453242-C-G c.2082G>C p.G694= Synonymous 11/11 - 2
19-50453242-C-T c.2082G>A p.G694= Synonymous 11/11 - 5
19-50453243-C-T c.2081G>A p.G694E Missense 11/11 - 1
19-50453246-G-A c.2078C>T p.S693L Missense 11/11 - 1
19-50453247-A-G c.2077T>C p.S693P Missense 11/11 - 1
19-50453248-C-T c.2076G>A p.M692I Missense 11/11 - 1
19-50453249-A-C c.2075T>G p.M692R Missense 11/11 - 1
19-50453249-A-G c.2075T>C p.M692T Missense 11/11 - 1
19-50453253-C-T c.2071G>A p.E691K Missense 11/11 - 2
19-50453257-C-T c.2067G>A p.E689= Synonymous 11/11 - 3
19-50453258-T-C c.2066A>G p.E689G Missense 11/11 - 1
19-50453259-C-T c.2065G>A p.E689K Missense 11/11 - 1
19-50453263-T-C c.2061A>G p.Q687= Synonymous 11/11 - 2
19-50453263-T-G c.2061A>C p.Q687H Missense 11/11 - 1
19-50453266-A-C c.2058T>G p.L686= Synonymous 11/11 - 1
19-50453266-A-G c.2058T>C p.L686= Synonymous 11/11 - 1
19-50453266-A-T c.2058T>A p.L686= Synonymous 11/11 - 4
19-50453275-G-A c.2049C>T p.G683= Synonymous 11/11 - 3
19-50453275-G-C c.2049C>G p.G683= Synonymous 11/11 - 1
19-50453275-G-T c.2049C>A p.G683= Synonymous 11/11 - 1
19-50453280-G-A c.2044C>T p.P682S Missense 11/11 - 1
19-50453281-G-A c.2043C>T p.G681= Synonymous 11/11 - 1
19-50453281-G-C c.2043C>G p.G681= Synonymous 11/11 - 1
19-50453281-G-T c.2043C>A p.G681= Synonymous 11/11 - 1
19-50453282-C-A c.2042G>T p.G681V Missense 11/11 - 1
19-50453282-C-T c.2042G>A p.G681D Missense 11/11 - 1
19-50453283-C-T c.2041G>A p.G681S Missense 11/11 - 2
19-50453284-C-T c.2040G>A p.R680= Synonymous 11/11 - 2
19-50453287-C-T c.2037G>A p.L679= Synonymous 11/11 - 2
19-50453289-G-A c.2035C>T p.L679= Synonymous 11/11 - 1
19-50453290-G-A c.2034C>T p.P678= Synonymous 11/11 - 4
19-50453291-GG-AA c.2032_2033delinsTT p.P678F Missense 11/11 - 1
19-50453292-G-T c.2032C>A p.P678T Missense 11/11 - 3
19-50453293-C-T c.2031G>A p.Q677= Synonymous 11/11 - 2
19-50453295-G-A c.2029C>T p.Q677* Nonsense 11/11 - 1
19-50453296-T-C c.2028A>G p.G676= Synonymous 11/11 - 1
19-50453298-C-T c.2026G>A p.G676R Missense 11/11 - 1
19-50453299-T-A c.2025A>T p.T675= Synonymous 11/11 - 4
19-50453299-T-C c.2025A>G p.T675= Synonymous 11/11 - 2
19-50453299-T-G c.2025A>C p.T675= Synonymous 11/11 - 1
19-50453304-G-A c.2020C>T p.H674Y Missense 11/11 - 1
19-50453314-C-T c.2010G>A p.E670= Synonymous 11/11 - 1
19-50453317-C-T c.2007G>A p.S669= Synonymous 11/11 - 15
19-50453336-G-C c.1988C>G p.P663R Missense 11/11 - 1
19-50453340-C-T c.1984G>A p.A662T Missense 11/11 - 2
19-50453343-C-T c.1981G>A p.E661K Missense 11/11 - 1
19-50453349-C-T c.1975G>A p.D659N Missense 11/11 - 1
19-50453351-G-A c.1973C>T p.A658V Missense 11/11 - 2
19-50453351-G-T c.1973C>A p.A658E Missense 11/11 - 1
19-50453359-C-T c.1965G>A p.W655* Nonsense 11/11 - 2
19-50453362-G-A c.1962C>T p.L654= Synonymous 11/11 - 1
19-50453362-G-C c.1962C>G p.L654= Synonymous 11/11 - 1
19-50453362-G-T c.1962C>A p.L654= Synonymous 11/11 - 2
19-50453366-C-T c.1958G>A p.R653K Missense 11/11 - 1
19-50453373-C-T c.1951G>A p.G651S Missense 11/11 - 2
19-50453395-G-A c.1929C>T p.H643= Synonymous 11/11 - 1
19-50453398-G-A c.1926C>T p.L642= Synonymous 11/11 - 2
19-50453398-GAG-CAT c.1924_1926delinsATG p.L642M Missense 11/11 - 1
19-50453398-G-C c.1926C>G p.L642= Synonymous 11/11 - 2
19-50453398-G-T c.1926C>A p.L642= Synonymous 11/11 - 2
19-50453400-G-T c.1924C>A p.L642I Missense 11/11 - 1
19-50453402-T-A c.1922A>T p.E641V Missense 11/11 - 2
19-50453405-T-A c.1919A>T p.Q640L Missense 11/11 - 1
19-50453406-G-T c.1918C>A p.Q640K Missense 11/11 - 1
19-50453409-C-A c.1915G>T p.E639* Nonsense 11/11 - 1
19-50453412-C-T c.1912G>A p.E638K Missense 11/11 - 3
19-50453419-C-A c.1905G>T p.G635= Synonymous 11/11 - 1
19-50453419-C-G c.1905G>C p.G635= Synonymous 11/11 - 2
19-50453419-C-T c.1905G>A p.G635= Synonymous 11/11 - 4
19-50453422-C-A c.1902G>T p.P634= Synonymous 11/11 - 1
19-50453422-C-G c.1902G>C p.P634= Synonymous 11/11 - 1
19-50453422-C-T c.1902G>A p.P634= Synonymous 11/11 - 3
19-50453424-G-A c.1900C>T p.P634S Missense 11/11 - 1
19-50453432-G-A c.1892C>T p.T631I Missense 11/11 - 1
19-50453441-C-T c.1883G>A p.G628D Missense 11/11 - 1
19-50453455-G-C c.1869C>G p.D623E Missense 11/11 - 1
19-50453455-G-T c.1869C>A p.D623E Missense 11/11 - 1
19-50453462-G-A c.1862C>T p.S621F Missense 11/11 - 2
19-50453473-C-A c.1851G>T p.S617= Synonymous 11/11 - 1
19-50453473-C-G c.1851G>C p.S617= Synonymous 11/11 - 1
19-50453473-C-T c.1851G>A p.S617= Synonymous 11/11 - 2
19-50453487-G-A c.1837C>T p.Q613* Nonsense 11/11 - 3
19-50455018-A-T c.1830+130T>A - IntronicSNV - 10/10 1
19-50455148-C-T c.1830G>A p.Q610= Synonymous 10/11 - 3
19-50455151-G-A c.1827C>T p.S609= Synonymous 10/11 - 2
19-50455151-G-C c.1827C>G p.S609= Synonymous 10/11 - 1
19-50455151-G-T c.1827C>A p.S609= Synonymous 10/11 - 1
19-50455158-G-C c.1820C>G p.P607R Missense 10/11 - 1
19-50455166-G-A c.1812C>T p.T604= Synonymous 10/11 - 1
19-50455172-G-A c.1806C>T p.P602= Synonymous 10/11 - 1
19-50455172-G-C c.1806C>G p.P602= Synonymous 10/11 - 1
19-50455172-G-T c.1806C>A p.P602= Synonymous 10/11 - 1
19-50455178-G-A c.1800C>T p.D600= Synonymous 10/11 - 2
19-50455180-C-T c.1798G>A p.D600N Missense 10/11 - 14
19-50455181-C-A c.1797G>T p.Q599H Missense 10/11 - 1
19-50455181-C-G c.1797G>C p.Q599H Missense 10/11 - 1
19-50455193-T-A c.1785A>T p.A595= Synonymous 10/11 - 1
19-50455193-T-C c.1785A>G p.A595= Synonymous 10/11 - 1
19-50455193-T-G c.1785A>C p.A595= Synonymous 10/11 - 1
19-50455194-TG-T c.1784del p.A595Efs*58 Frameshift 10/11 - 1
19-50455198-T-C c.1780A>G p.R594G Missense 10/11 - 1
19-50455202-G-A c.1776C>T p.R592= Synonymous 10/11 - 3
19-50455202-G-C c.1776C>G p.R592= Synonymous 10/11 - 2
19-50455202-GC-TT c.1775_1776delinsAA p.R592Q Missense 10/11 - 2
19-50455202-G-T c.1776C>A p.R592= Synonymous 10/11 - 2
19-50455203-C-A c.1775G>T p.R592L Missense 10/11 - 1
19-50455203-C-T c.1775G>A p.R592H Missense 10/11 - 1
19-50455204-G-A c.1774C>T p.R592C Missense 10/11 - 3
19-50455210-C-T c.1768G>A p.E590K Missense 10/11 - 1
19-50455217-G-T c.1761C>A p.C587* Nonsense 10/11 - 1
19-50455220-G-C c.1758C>G p.I586M Missense 10/11 - 1
19-50455223-C-A c.1755G>T p.K585N Missense 10/11 - 1
19-50455223-C-G c.1755G>C p.K585N Missense 10/11 - 1
19-50455351-C-T c.1749-122G>A - IntronicSNV - 9/10 4
19-50455410-G-A c.1748+145C>T - IntronicSNV - 9/10 1
19-50455529-T-A c.1748+26A>T - IntronicSNV - 9/10 1
19-50455562-C-G c.1741G>C p.V581L Missense 9/11 - 1
19-50455562-C-T c.1741G>A p.V581I Missense 9/11 - 13
19-50455559-AGAC-A c.1741_1743del p.V581del InFrameDeletion 9/11 - 1
19-50455565-C-G c.1738G>C p.V580L Missense 9/11 - 1
19-50455565-C-T c.1738G>A p.V580I Missense 9/11 - 2
19-50455573-GA-TT c.1729_1730delinsAA p.S577N Missense 9/11 - 1
19-50455574-A-G c.1729T>C p.S577P Missense 9/11 - 1
19-50455578-G-A c.1725C>T p.F575= Synonymous 9/11 - 2
19-50455578-G-C c.1725C>G p.F575L Missense 9/11 - 1
19-50455581-A-G c.1722T>C p.A574= Synonymous 9/11 - 1
19-50455582-G-A c.1721C>T p.A574V Missense 9/11 - 1
19-50455584-G-A c.1719C>T p.L573= Synonymous 9/11 - 1
19-50455586-G-A c.1717C>T p.L573F Missense 9/11 - 1
19-50455589-G-A c.1714C>T p.L572= Synonymous 9/11 - 2
19-50455594-G-A c.1709C>T p.A570V Missense 9/11 - 1
19-50455595-C-T c.1708G>A p.A570T Missense 9/11 - 2
19-50455596-G-A c.1707C>T p.V569= Synonymous 9/11 - 4
19-50455596-G-C c.1707C>G p.V569= Synonymous 9/11 - 1
19-50455596-G-T c.1707C>A p.V569= Synonymous 9/11 - 1
19-50455594-GCGA-G c.1706_1708del p.V569del InFrameDeletion 9/11 - 1
19-50455598-C-T c.1705G>A p.V569I Missense 9/11 - 7
19-50455599-G-A c.1704C>T p.G568= Synonymous 9/11 - 7
19-50455599-G-C c.1704C>G p.G568= Synonymous 9/11 - 4
19-50455599-G-T c.1704C>A p.G568= Synonymous 9/11 - 4
19-50455603-G-A c.1700C>T p.A567V Missense 9/11 - 1
19-50455605-T-A c.1698A>T p.G566= Synonymous 9/11 - 2
19-50455605-T-C c.1698A>G p.G566= Synonymous 9/11 - 2
19-50455605-T-G c.1698A>C p.G566= Synonymous 9/11 - 2
19-50455607-C-G c.1696G>C p.G566R Missense 9/11 - 1
19-50455607-C-T c.1696G>A p.G566R Missense 9/11 - 4
19-50455610-G-A c.1693C>T p.L565= Synonymous 9/11 - 1
19-50455611-G-A c.1692C>T p.A564= Synonymous 9/11 - 2
19-50455611-G-C c.1692C>G p.A564= Synonymous 9/11 - 1
19-50455611-G-T c.1692C>A p.A564= Synonymous 9/11 - 1
19-50455618-C-T c.1685G>A p.G562E Missense 9/11 - 1
19-50455624-C-T c.1679G>A p.G560D Missense 9/11 - 5
19-50455625-C-A c.1678G>T p.G560C Missense 9/11 - 1
19-50455627-A-G c.1676T>C p.L559P Missense 9/11 - 1
19-50455630-C-T c.1673G>A p.G558E Missense 9/11 - 1
19-50455631-C-G c.1672G>C p.G558R Missense 9/11 - 1
19-50455631-C-T c.1672G>A p.G558R Missense 9/11 - 1
19-50455634-C-T c.1669G>A p.G557R Missense 9/11 - 2
19-50455635-C-A c.1668G>T p.G556= Synonymous 9/11 - 2
19-50455635-C-G c.1668G>C p.G556= Synonymous 9/11 - 1
19-50455635-C-T c.1668G>A p.G556= Synonymous 9/11 - 1
19-50455642-T-A c.1661A>T p.E554V Missense 9/11 - 1
19-50455643-C-T c.1660G>A p.E554K Missense 9/11 - 2
19-50455647-C-A c.1656G>T p.K552N Missense 9/11 - 1
19-50455650-C-T c.1653G>A p.G551= Synonymous 9/11 - 1
19-50455651-C-T c.1652G>A p.G551E Missense 9/11 - 4
19-50457551-C-T c.1652-1900G>A - IntronicSNV - 8/10 1
19-50458856-TA-T c.1651+2683del - IntronicDeletion - 8/10 1
19-50459179-G-A c.1651+2361C>T - IntronicSNV - 8/10 1
19-50459564-TA-T c.1651+1975del - IntronicDeletion - 8/10 1
19-50461447-C-T c.1651+93G>A - IntronicSNV - 8/10 5
19-50461543-G-A c.1648C>T p.P550S Missense 8/11 - 1
19-50461543-G-C c.1648C>G p.P550A Missense 8/11 - 1
19-50461552-G-A c.1639C>T p.Q547* Nonsense 8/11 - 1
19-50461568-C-A c.1623G>T p.Q541H Missense 8/11 - 1
19-50461568-C-G c.1623G>C p.Q541H Missense 8/11 - 1
19-50461571-G-A c.1620C>T p.A540= Synonymous 8/11 - 2
19-50461574-C-A c.1617G>T p.G539= Synonymous 8/11 - 1
19-50461574-C-G c.1617G>C p.G539= Synonymous 8/11 - 1
19-50461574-C-T c.1617G>A p.G539= Synonymous 8/11 - 1
19-50461582-C-T c.1609G>A p.V537I Missense 8/11 - 4
19-50461584-T-G c.1607A>C p.N536T Missense 8/11 - 1
19-50461589-G-A c.1602C>T p.A534= Synonymous 8/11 - 1
19-50461589-G-C c.1602C>G p.A534= Synonymous 8/11 - 1
19-50461589-G-T c.1602C>A p.A534= Synonymous 8/11 - 1
19-50461598-G-A c.1593C>T p.R531= Synonymous 8/11 - 2
19-50461598-G-C c.1593C>G p.R531= Synonymous 8/11 - 1
19-50461598-G-T c.1593C>A p.R531= Synonymous 8/11 - 1
19-50461600-G-A c.1591C>T p.R531C Missense 8/11 - 1
19-50461604-CCT-ATG c.1585_1587delinsCAT p.R529H Missense 8/11 - 1
19-50461609-G-A c.1582C>T p.L528F Missense 8/11 - 4
19-50461614-G-A c.1577C>T p.S526F Missense 8/11 - 1
19-50461616-G-A c.1575C>T p.S525S UnclassifiedSNV 8/11 - 1
19-50461621-G-A c.1570C>T p.L524F Missense 8/11 - 1
19-50461633-G-A c.1558C>T p.L520F Missense 8/11 - 1
19-50461635-C-A c.1556G>T p.S519I Missense 8/11 - 1
19-50461639-G-T c.1552C>A p.L518M Missense 8/11 - 2
19-50461641-G-A c.1550C>T p.S517F Missense 8/11 - 1
19-50461643-G-T c.1548C>A p.S516R Missense 8/11 - 1
19-50461651-C-T c.1540G>A p.A514T Missense 8/11 - 2
19-50461659-C-G c.1532G>C p.G511A Missense 8/11 - 2
19-50461659-C-T c.1532G>A p.G511E Missense 8/11 - 2
19-50461660-C-G c.1531G>C p.G511R Missense 8/11 - 1
19-50461660-C-T c.1531G>A p.G511R Missense 8/11 - 1
19-50461661-G-A c.1530C>T p.A510= Synonymous 8/11 - 1
19-50461661-G-C c.1530C>G p.A510= Synonymous 8/11 - 1
19-50461663-C-A c.1528G>T p.A510S Missense 8/11 - 1
19-50461665-G-A c.1526C>T p.S509L Missense 8/11 - 2
19-50461666-A-G c.1525T>C p.S509P Missense 8/11 - 1
19-50461669-CT-C c.1522del p.S508Afs*11 Frameshift 8/11 - 2
19-50461673-G-A c.1518C>T p.T506= Synonymous 8/11 - 2
19-50461673-G-C c.1518C>G p.T506= Synonymous 8/11 - 2
19-50461673-G-T c.1518C>A p.T506= Synonymous 8/11 - 2
19-50461674-G-C c.1517C>G p.T506S Missense 8/11 - 1
19-50461674-G-T c.1517C>A p.T506N Missense 8/11 - 4
19-50461675-T-A c.1516A>T p.T506S Missense 8/11 - 1
19-50461676-G-A c.1515C>T p.V505= Synonymous 8/11 - 1
19-50461678-C-G c.1513G>C p.V505L Missense 8/11 - 1
19-50461681-C-T c.1510G>A p.E504K Missense 8/11 - 6
19-50461682-G-A c.1509C>T p.F503= Synonymous 8/11 - 3
19-50461685-G-A c.1506C>T p.S502= Synonymous 8/11 - 1
19-50461695-C-T c.1496G>A p.S499N Missense 8/11 - 1
19-50461700-G-C c.1491C>G p.N497K Missense 8/11 - 3
19-50461700-G-T c.1491C>A p.N497K Missense 8/11 - 2
19-50461704-C-T c.1487G>A p.G496E Missense 8/11 - 4
19-50461706-C-A c.1485G>T p.E495D Missense 8/11 - 6
19-50461706-C-G c.1485G>C p.E495D Missense 8/11 - 4
19-50461711-G-A c.1480C>T p.L494= Synonymous 8/11 - 1
19-50461711-G-T c.1480C>A p.L494M Missense 8/11 - 1
19-50461712-CAG-AAA c.1477_1479delinsTTT p.L493F Missense 8/11 - 1
19-50461719-T-C c.1472A>G p.E491G Missense 8/11 - 1
19-50461721-C-A c.1470G>T p.G490= Synonymous 8/11 - 1
19-50461723-CCA-C c.1467_1468del p.E491Gfs*42 Frameshift 8/11 - 1
19-50461727-C-A c.1464G>T p.W488C Missense 8/11 - 3
19-50461727-C-G c.1464G>C p.W488C Missense 8/11 - 2
19-50461727-GCC-G c.1463_1464del p.W488Sfs*45 Frameshift 8/11 - 1
19-50461729-A-G c.1462T>C p.W488R Missense 8/11 - 1
19-50461731-C-T c.1460G>A p.W487* Nonsense 8/11 - 4
19-50461732-A-C c.1459T>G p.W487G Missense 8/11 - 2
19-50461734-C-T c.1457G>A p.R486H Missense 8/11 - 1
19-50461735-G-A c.1456C>T p.R486C Missense 8/11 - 1
19-50461734-CGCA-C c.1454_1456del p.L485del InFrameDeletion 8/11 - 1
19-50461737-CAGAGAGGG-C c.1447_1454del p.P483Afs*48 Frameshift 8/11 - 1
19-50461738-G-A c.1453C>T p.L485= Synonymous 8/11 - 2
19-50461746-G-A c.1445C>T p.A482V Missense 8/11 - 1
19-50461747-C-T c.1444G>A p.A482T Missense 8/11 - 2
19-50461748-C-CCCCTCTCT c.1442_1443insAGAGAGGG p.A482Efs*40 Frameshift 8/11 - 1
19-50461749-G-A c.1442C>T p.P481L Missense 8/11 - 1
19-50461754-G-GGT c.1436_1437insAC p.S480Pfs*40 Frameshift 8/11 - 1
19-50461756-C-G c.1435G>C p.A479P Missense 8/11 - 1
19-50461758-T-TTG c.1432_1433insCA p.Q478Pfs*42 Frameshift 8/11 - 1
19-50461759-G-A c.1432C>T p.Q478* Nonsense 8/11 - 1
19-50461760-G-A c.1431C>T p.S477= Synonymous 8/11 - 1
19-50461760-G-C c.1431C>G p.S477= Synonymous 8/11 - 1
19-50461760-G-T c.1431C>A p.S477= Synonymous 8/11 - 1
19-50461764-G-A c.1427C>T p.S476F Missense 8/11 - 2
19-50461783-C-G c.1408G>C p.G470R Missense 8/11 - 1
19-50461790-C-T c.1401G>A p.E467= Synonymous 8/11 - 1
19-50461793-C-T c.1398G>A p.W466* Nonsense 8/11 - 1
19-50461794-C-T c.1397G>A p.W466* Nonsense 8/11 - 1
19-50461797-G-A c.1394C>T p.S465F Missense 8/11 - 5
19-50461798-A-C c.1393T>G p.S465A Missense 8/11 - 2
19-50461799-G-A c.1392C>T p.C464C UnclassifiedSNV 8/11 - 1
19-50461802-G-A c.1389C>T p.S463= Synonymous 8/11 - 1
19-50461802-G-C c.1389C>G p.S463= Synonymous 8/11 - 1
19-50461802-G-T c.1389C>A p.S463= Synonymous 8/11 - 1
19-50461806-G-A c.1385C>T p.P462L Missense 8/11 - 5
19-50461806-G-T c.1385C>A p.P462H Missense 8/11 - 1
19-50461807-G-A c.1384C>T p.P462S Missense 8/11 - 2
19-50461818-T-G c.1373A>C p.Q458P Missense 8/11 - 1
19-50461820-T-A c.1371A>T p.P457= Synonymous 8/11 - 1
19-50461820-T-C c.1371A>G p.P457= Synonymous 8/11 - 1
19-50461820-T-G c.1371A>C p.P457= Synonymous 8/11 - 1
19-50461821-G-A c.1370C>T p.P457L Missense 8/11 - 1
19-50461820-TG-T c.1370del p.P457Hfs*62 Frameshift 8/11 - 1
19-50461824-G-A c.1367C>T p.P456L Missense 8/11 - 1
19-50461825-G-A c.1366C>T p.P456S Missense 8/11 - 2
19-50461829-T-G c.1364-2A>C - IntronicSNV - 7/10 1
19-50461906-C-T c.1357G>A p.V453M Missense 7/11 - 3
19-50461907-G-A c.1356C>T p.S452= Synonymous 7/11 - 1
19-50461907-G-C c.1356C>G p.S452= Synonymous 7/11 - 1
19-50461907-G-T c.1356C>A p.S452= Synonymous 7/11 - 1
19-50461916-G-C c.1347C>G p.L449= Synonymous 7/11 - 1
19-50461920-G-A c.1343C>T p.S448F Missense 7/11 - 1
19-50461924-C-A c.1339G>T p.V447F Missense 7/11 - 1
19-50461924-C-T c.1339G>A p.V447I Missense 7/11 - 5
19-50461925-G-A c.1338C>T p.H446= Synonymous 7/11 - 1
19-50461926-T-C c.1337A>G p.H446R Missense 7/11 - 1
19-50461928-C-T c.1335G>A p.Q445= Synonymous 7/11 - 1
19-50461930-G-T c.1333C>A p.Q445K Missense 7/11 - 2
19-50461931-G-A c.1332C>T p.S444= Synonymous 7/11 - 1
19-50461937-C-A c.1326G>T p.L442= Synonymous 7/11 - 1
19-50461939-G-C c.1324C>G p.L442V Missense 7/11 - 2
19-50461948-G-A c.1315C>T p.Q439* Nonsense 7/11 - 1
19-50461951-C-A c.1312G>T p.A438S Missense 7/11 - 2
19-50461952-G-A c.1311C>T p.H437= Synonymous 7/11 - 1
19-50461959-G-C c.1304C>G p.T435S Missense 7/11 - 1
19-50461967-T-C c.1296A>G p.G432= Synonymous 7/11 - 2
19-50461967-T-G c.1296A>C p.G432= Synonymous 7/11 - 1
19-50461972-C-A c.1291G>T p.E431* Nonsense 7/11 - 1
19-50461972-C-T c.1291G>A p.E431K Missense 7/11 - 2
19-50461973-G-A c.1290C>T p.H430= Synonymous 7/11 - 2
19-50461985-A-G c.1278T>C p.I426= Synonymous 7/11 - 1
19-50461985-A-T c.1278T>A p.I426= Synonymous 7/11 - 1
19-50461988-G-A c.1275C>T p.P425= Synonymous 7/11 - 1
19-50461989-G-A c.1274C>T p.P425L Missense 7/11 - 2
19-50461989-G-C c.1274C>G p.P425R Missense 7/11 - 2
19-50461997-C-A c.1266G>T p.E422D Missense 7/11 - 1
19-50461997-C-G c.1266G>C p.E422D Missense 7/11 - 3
19-50461997-C-T c.1266G>A p.E422= Synonymous 7/11 - 1
19-50461998-T-G c.1265A>C p.E422A Missense 7/11 - 1
19-50462000-C-A c.1263G>T p.L421= Synonymous 7/11 - 1
19-50462000-C-G c.1263G>C p.L421= Synonymous 7/11 - 1
19-50462000-C-T c.1263G>A p.L421= Synonymous 7/11 - 1
19-50462002-G-A c.1261C>T p.L421= Synonymous 7/11 - 1
19-50462008-C-A c.1255G>T p.G419W Missense 7/11 - 3
19-50462008-C-G c.1255G>C p.G419R Missense 7/11 - 1
19-50462008-C-T c.1255G>A p.G419R Missense 7/11 - 1
19-50462012-G-A c.1251C>T p.D417= Synonymous 7/11 - 4
19-50462014-C-A c.1249G>T p.D417Y Missense 7/11 - 2
19-50462016-G-A c.1247C>T p.S416L Missense 7/11 - 2
19-50462022-T-C c.1241A>G p.Q414R Missense 7/11 - 1
19-50462023-G-T c.1240C>A p.Q414K Missense 7/11 - 1
19-50462024-G-A c.1239C>T p.S413= Synonymous 7/11 - 1
19-50462031-C-T c.1232G>A p.G411D Missense 7/11 - 1
19-50462039-C-T c.1224G>A p.Q408= Synonymous 7/11 - 5
19-50462040-T-C c.1223A>G p.Q408R Missense 7/11 - 1
19-50462043-CC-TT c.1219_1220delinsAA p.G407K Missense 7/11 - 2
19-50462043-C-T c.1220G>A p.G407E Missense 7/11 - 3
19-50462044-C-G c.1219G>C p.G407R Missense 7/11 - 2
19-50462044-C-T c.1219G>A p.G407R Missense 7/11 - 7
19-50462047-A-C c.1216T>G p.W406G Missense 7/11 - 5
19-50462049-C-T c.1214G>A p.R405Q Missense 7/11 - 1
19-50462050-G-A c.1213C>T p.R405W Missense 7/11 - 2
19-50462054-C-T c.1209G>A p.W403* Nonsense 7/11 - 1
19-50462055-C-T c.1208G>A p.W403* Nonsense 7/11 - 2
19-50462060-C-A c.1203G>T p.L401= Synonymous 7/11 - 1
19-50462060-C-G c.1203G>C p.L401= Synonymous 7/11 - 1
19-50462060-C-T c.1203G>A p.L401= Synonymous 7/11 - 1
19-50462062-G-A c.1201C>T p.L401= Synonymous 7/11 - 3
19-50462074-G-A c.1189C>T p.P397S Missense 7/11 - 2
19-50462069-TG-T c.1193del p.P398Qfs*4 Frameshift 7/11 - 2
19-50462069-T-TG c.1193dup p.A399Sfs*71 Frameshift 7/11 - 1
19-50462078-GCT-TCA c.1183_1185delinsTGA p.S395* Nonsense 7/11 - 1
19-50462084-G-T c.1179C>A p.T393= Synonymous 7/11 - 2
19-50462093-G-A c.1170C>T p.V390= Synonymous 7/11 - 1
19-50462099-G-A c.1164C>T p.R388= Synonymous 7/11 - 2
19-50462099-GCG-CTT c.1162_1164delinsAAG p.R388K Missense 7/11 - 1
19-50462100-C-T c.1163G>A p.R388H Missense 7/11 - 2
19-50462101-G-A c.1162C>T p.R388C Missense 7/11 - 1
19-50462101-G-C c.1162C>G p.R388G Missense 7/11 - 1
19-50462101-G-T c.1162C>A p.R388S Missense 7/11 - 3
19-50462121-A-T c.1142T>A p.V381D Missense 7/11 - 1
19-50462124-G-C c.1139C>G p.P380R Missense 7/11 - 4
19-50462129-G-A c.1134C>T p.S378= Synonymous 7/11 - 1
19-50462129-G-T c.1134C>A p.S378= Synonymous 7/11 - 1
19-50462135-G-A c.1128C>T p.G376= Synonymous 7/11 - 2
19-50462135-G-C c.1128C>G p.G376= Synonymous 7/11 - 2
19-50462135-G-T c.1128C>A p.G376= Synonymous 7/11 - 2
19-50462136-C-T c.1127G>A p.G376D Missense 7/11 - 2
19-50462137-C-A c.1126G>T p.G376C Missense 7/11 - 4
19-50462137-C-T c.1126G>A p.G376S Missense 7/11 - 3
19-50462138-G-A c.1125C>T p.N375= Synonymous 7/11 - 4
19-50462139-T-C c.1124A>G p.N375S Missense 7/11 - 1
19-50462141-C-T c.1122G>A p.G374= Synonymous 7/11 - 1
19-50462142-C-T c.1121G>A p.G374E Missense 7/11 - 1
19-50462143-C-T c.1120G>A p.G374R Missense 7/11 - 1
19-50462149-T-A c.1114A>T p.N372Y Missense 7/11 - 1
19-50462151-T-A c.1112A>T p.E371V Missense 7/11 - 2
19-50462151-T-C c.1112A>G p.E371G Missense 7/11 - 3
19-50462181-G-A c.1106-24C>T - IntronicSNV - 6/10 1
19-50462181-G-C c.1106-24C>G - IntronicSNV - 6/10 1
19-50462182-A-T c.1106-25T>A - IntronicSNV - 6/10 1
19-50462183-C-G c.1106-26G>C - IntronicSNV - 6/10 1
19-50462183-C-T c.1106-26G>A - IntronicSNV - 6/10 1
19-50462222-C-T c.1105+65G>A - IntronicSNV - 6/10 1
19-50462244-G-A c.1105+43C>T - IntronicSNV - 6/10 8
19-50462287-C-A c.1105G>T p.V369F Missense 6/11 - 1
19-50462287-C-T c.1105G>A p.V369I Missense 6/11 - 1
19-50462289-G-T c.1103C>A p.T368K Missense 6/11 - 1
19-50462297-T-A c.1095A>T p.A365= Synonymous 6/11 - 2
19-50462297-T-C c.1095A>G p.A365= Synonymous 6/11 - 2
19-50462297-T-G c.1095A>C p.A365= Synonymous 6/11 - 2
19-50462298-G-C c.1094C>G p.A365G Missense 6/11 - 20
19-50462302-G-T c.1090C>A p.Q364K Missense 6/11 - 3
19-50462304-G-A c.1088C>T p.S363F Missense 6/11 - 4
19-50462314-C-T c.1078G>A p.V360M Missense 6/11 - 1
19-50462317-T-G c.1075A>C p.R359= Synonymous 6/11 - 1
19-50462320-G-C c.1072C>G p.L358V Missense 6/11 - 1
19-50462324-C-A c.1068G>T p.E356D Missense 6/11 - 6
19-50462324-C-G c.1068G>C p.E356D Missense 6/11 - 3
19-50462326-C-G c.1066G>C p.E356Q Missense 6/11 - 1
19-50462332-G-C c.1060C>G p.P354A Missense 6/11 - 1
19-50462622-A-T c.1052T>A p.V351E Missense 5/11 - 1
19-50462638-C-T c.1036G>A p.A346T Missense 5/11 - 1
19-50462639-T-C c.1035A>G p.Q345= Synonymous 5/11 - 1
19-50462640-T-C c.1034A>G p.Q345R Missense 5/11 - 10
19-50462644-G-A c.1030C>T p.Q344* Nonsense 5/11 - 1
19-50462648-G-T c.1026C>A p.S342= Synonymous 5/11 - 1
19-50462655-A-C c.1019T>G p.L340R Missense 5/11 - 1
19-50462656-G-T c.1018C>A p.L340I Missense 5/11 - 1
19-50462657-CCT-ACA c.1015_1017delinsTGT p.R339C Missense 5/11 - 1
19-50462657-C-G c.1017G>C p.R339S Missense 5/11 - 1
19-50462658-C-T c.1016G>A p.R339K Missense 5/11 - 2
19-50462659-T-C c.1015A>G p.R339G Missense 5/11 - 5
19-50462665-C-T c.1009G>A p.E337K Missense 5/11 - 5
19-50462666-C-A c.1008G>T p.A336= Synonymous 5/11 - 1
19-50462666-C-T c.1008G>A p.A336= Synonymous 5/11 - 2
19-50462667-G-A c.1007C>T p.A336V Missense 5/11 - 1
19-50462670-C-A c.1004G>T p.R335L Missense 5/11 - 1
19-50462670-C-T c.1004G>A p.R335Q Missense 5/11 - 1
19-50462671-G-C c.1003C>G p.R335G Missense 5/11 - 1
19-50462676-G-A c.998C>T p.T333I Missense 5/11 - 2
19-50462677-T-C c.997A>G p.T333A Missense 5/11 - 1
19-50462682-C-T c.992G>A p.R331H Missense 5/11 - 2
19-50462686-C-A c.988G>T p.G330W Missense 5/11 - 1
19-50462687-T-A c.987A>T p.S329= Synonymous 5/11 - 1
19-50462687-T-C c.987A>G p.S329= Synonymous 5/11 - 6
19-50462687-T-G c.987A>C p.S329= Synonymous 5/11 - 1
19-50462692-C-T c.982G>A p.D328N Missense 5/11 - 2
19-50462694-C-G c.980G>C p.G327A Missense 5/11 - 1
19-50462696-G-T c.978C>A p.A326= Synonymous 5/11 - 3
19-50462698-C-T c.976G>A p.A326T Missense 5/11 - 1
19-50462699-C-T c.975G>A p.R325= Synonymous 5/11 - 1
19-50462706-C-T c.968G>A p.G323E Missense 5/11 - 1
19-50462711-C-A c.963G>T p.L321= Synonymous 5/11 - 1
19-50462711-C-G c.963G>C p.L321= Synonymous 5/11 - 1
19-50462711-C-T c.963G>A p.L321= Synonymous 5/11 - 1
19-50462713-G-A c.961C>T p.L321= Synonymous 5/11 - 2
19-50462717-C-T c.957G>A p.L319= Synonymous 5/11 - 1
19-50462750-C-T c.924G>A p.S308= Synonymous 5/11 - 2
19-50462751-G-A c.923C>T p.S308L Missense 5/11 - 1
19-50462761-C-T c.913G>A p.V305I Missense 5/11 - 1
19-50462794-G-A c.880C>T p.P294S Missense 5/11 - 1
19-50462803-T-A c.871A>T p.S291C Missense 5/11 - 1
19-50462805-T-G c.869A>C p.D290A Missense 5/11 - 1
19-50462806-C-G c.868G>C p.D290H Missense 5/11 - 1
19-50462813-A-G c.861T>C p.C287= Synonymous 5/11 - 1
19-50462824-G-A c.850C>T p.R284W Missense 5/11 - 1
19-50462831-C-A c.843G>T p.Q281H Missense 5/11 - 1
19-50462831-C-T c.843G>A p.Q281= Synonymous 5/11 - 1
19-50462835-C-T c.839G>A p.G280D Missense 5/11 - 1
19-50462836-C-T c.838G>A p.G280S Missense 5/11 - 3
19-50462851-G-A c.823C>T p.L275= Synonymous 5/11 - 1
19-50462860-C-T c.814G>A p.V272I Missense 5/11 - 1
19-50462876-C-G c.798G>C p.L266= Synonymous 5/11 - 1
19-50462878-G-A c.796C>T p.L266= Synonymous 5/11 - 1
19-50462889-A-G c.794-9T>C - IntronicSNV - 4/10 2
19-50462932-A-C c.794-52T>G - IntronicSNV - 4/10 1
19-50462932-A-G c.794-52T>C - IntronicSNV - 4/10 1
19-50462932-A-T c.794-52T>A - IntronicSNV - 4/10 1
19-50463026-G-A c.793+4C>T - IntronicSNV - 4/10 1
19-50463030-C-A c.793G>T p.A265S Missense 4/11 - 5
19-50463034-C-G c.789G>C p.T263= Synonymous 4/11 - 2
19-50463034-C-T c.789G>A p.T263= Synonymous 4/11 - 3
19-50463037-G-C c.786C>G p.N262K Missense 4/11 - 1
19-50463037-G-T c.786C>A p.N262K Missense 4/11 - 1
19-50463043-A-G c.780T>C p.H260= Synonymous 4/11 - 2
19-50463044-T-C c.779A>G p.H260R Missense 4/11 - 6
19-50463066-C-T c.757G>A p.D253N Missense 4/11 - 1
19-50463183-G-A c.746-106C>T - IntronicSNV - 3/10 1
19-50463325-C-T c.745+69G>A - IntronicSNV - 3/10 2
19-50463368-G-A c.745+26C>T - IntronicSNV - 3/10 2
19-50463379-CCAGGCCACACTCA-C c.745+2_745+14del - IntronicDeletion 3/11 3/10 1
19-50463397-C-A c.742G>T p.A248S Missense 3/11 - 1
19-50463398-C-A c.741G>T p.V247= Synonymous 3/11 - 1
19-50463408-C-T c.731G>A p.R244Q Missense 3/11 - 1
19-50463410-G-C c.729C>G p.V243= Synonymous 3/11 - 1
19-50463413-G-C c.726C>G p.T242= Synonymous 3/11 - 1
19-50463441-GA-TT c.697_698delinsAA p.S233N Missense 3/11 - 1
19-50463446-G-A c.693C>T p.D231= Synonymous 3/11 - 1
19-50463466-C-T c.673G>A p.D225N Missense 3/11 - 1
19-50463467-G-A c.672C>T p.T224= Synonymous 3/11 - 2
19-50463467-G-C c.672C>G p.T224= Synonymous 3/11 - 2
19-50463467-G-T c.672C>A p.T224= Synonymous 3/11 - 2
19-50463468-G-A c.671C>T p.T224I Missense 3/11 - 1
19-50463468-G-T c.671C>A p.T224N Missense 3/11 - 1
19-50463472-C-T c.667G>A p.D223N Missense 3/11 - 5
19-50463473-G-A c.666C>T p.H222= Synonymous 3/11 - 1
19-50463482-G-A c.657C>T p.P219= Synonymous 3/11 - 1
19-50463485-G-C c.654C>G p.S218R Missense 3/11 - 1
19-50463485-G-T c.654C>A p.S218R Missense 3/11 - 2
19-50463487-T-G c.652A>C p.S218R Missense 3/11 - 1
19-50463497-G-A c.642C>T p.S214= Synonymous 3/11 - 1
19-50463499-T-A c.640A>T p.S214C Missense 3/11 - 1
19-50463501-A-G c.638T>C p.L213P Missense 3/11 - 1
19-50463507-G-A c.632C>T p.S211L Missense 3/11 - 1
19-50463507-G-T c.632C>A p.S211* Nonsense 3/11 - 1
19-50463510-A-G c.629T>C p.F210S Missense 3/11 - 1
19-50463513-T-C c.626A>G p.H209R Missense 3/11 - 1
19-50463516-GA-AG c.622_623delinsCT p.S208L Missense 3/11 - 1
19-50463531-G-A c.608C>T p.T203I Missense 3/11 - 1
19-50463534-C-G c.605G>C p.R202T Missense 3/11 - 1
19-50463534-C-T c.605G>A p.R202K Missense 3/11 - 1
19-50463534-CT-TG c.604_605delinsCA p.R202Q Missense 3/11 - 2
19-50463537-C-A c.602G>T p.R201I Missense 3/11 - 1
19-50463539-TA-T c.600del p.R201Efs*37 Frameshift 3/11 - 1
19-50463542-G-A c.597C>T p.S199= Synonymous 3/11 - 3
19-50463544-A-T c.595T>A p.S199T Missense 3/11 - 1
19-50463548-G-T c.591C>A p.A197= Synonymous 3/11 - 1
19-50463549-G-A c.590C>T p.A197V Missense 3/11 - 1
19-50463550-C-G c.589G>C p.A197P Missense 3/11 - 1
19-50463553-C-T c.586G>A p.A196T Missense 3/11 - 1
19-50463555-C-T c.584G>A p.G195E Missense 3/11 - 2
19-50463558-G-A c.581C>T p.T194M Missense 3/11 - 1
19-50463564-G-A c.575C>T p.S192F Missense 3/11 - 1
19-50463566-G-C c.573C>G p.F191L Missense 3/11 - 1
19-50463566-G-T c.573C>A p.F191L Missense 3/11 - 1
19-50463568-A-C c.571T>G p.F191V Missense 3/11 - 1
19-50463568-A-G c.571T>C p.F191L Missense 3/11 - 1
19-50463570-GA-AT c.568_569delinsAT p.S190I Missense 3/11 - 1
19-50463574-G-C c.565C>G p.P189A Missense 3/11 - 1
19-50463579-G-A c.560C>T p.P187L Missense 3/11 - 1
19-50463581-A-T c.558T>A p.C186* Nonsense 3/11 - 2
19-50463582-C-T c.557G>A p.C186Y Missense 3/11 - 1
19-50463586-T-C c.553A>G p.K185E Missense 3/11 - 1
19-50463594-G-A c.545C>T p.A182V Missense 3/11 - 1
19-50463594-G-T c.545C>A p.A182D Missense 3/11 - 1
19-50463604-A-C c.535T>G p.F179V Missense 3/11 - 1
19-50463605-CAC-GAT c.532_534delinsATC p.V178I Missense 3/11 - 1
19-50463606-A-C c.533T>G p.V178G Missense 3/11 - 6
19-50463615-A-T c.524T>A p.V175D Missense 3/11 - 1
19-50463617-C-T c.522G>A p.T174= Synonymous 3/11 - 1
19-50463620-C-T c.519G>A p.V173= Synonymous 3/11 - 1
19-50463623-C-T c.516G>A p.P172= Synonymous 3/11 - 1
19-50463631-C-G c.508G>C p.G170R Missense 3/11 - 2
19-50463631-C-T c.508G>A p.G170R Missense 3/11 - 4
19-50463633-G-A c.506C>T p.P169L Missense 3/11 - 4
19-50463637-C-A c.502G>T p.E168* Nonsense 3/11 - 1
19-50463641-G-A c.498C>T p.T166= Synonymous 3/11 - 1
19-50463641-G-C c.498C>G p.T166= Synonymous 3/11 - 1
19-50463641-G-T c.498C>A p.T166= Synonymous 3/11 - 1
19-50463639-AG-A c.499del p.L167Wfs*7 Frameshift 3/11 - 1
19-50463647-G-A c.492C>T p.P164= Synonymous 3/11 - 1
19-50463647-G-C c.492C>G p.P164= Synonymous 3/11 - 1
19-50463647-G-T c.492C>A p.P164= Synonymous 3/11 - 1
19-50463649-G-A c.490C>T p.P164S Missense 3/11 - 1
19-50463653-G-C c.486C>G p.Y162* Nonsense 3/11 - 1
19-50463653-G-T c.486C>A p.Y162* Nonsense 3/11 - 1
19-50463656-GAC-CAT c.481_483delinsATG p.V161M Missense 3/11 - 1
19-50463658-C-T c.481G>A p.V161I Missense 3/11 - 2
19-50463661-C-G c.478G>C p.D160H Missense 3/11 - 2
19-50463663-G-A c.476C>T p.P159L Missense 3/11 - 1
19-50463668-C-T c.471G>A p.K157= Synonymous 3/11 - 1
19-50463670-T-G c.469A>C p.K157Q Missense 3/11 - 21
19-50463678-G-T c.461C>A p.A154D Missense 3/11 - 1
19-50463693-G-A c.461-15C>T - IntronicSNV - 2/10 2
19-50463693-G-GT c.461-16_461-15insA - IntronicInsertion - 2/10 4
19-50463727-G-A c.461-49C>T - IntronicSNV - 2/10 7
19-50463809-C-T c.460G>A p.A154T Missense 2/11 - 1
19-50463810-T-A c.459A>T p.T153= Synonymous 2/11 - 1
19-50463810-T-C c.459A>G p.T153= Synonymous 2/11 - 1
19-50463810-T-G c.459A>C p.T153= Synonymous 2/11 - 1
19-50463812-T-C c.457A>G p.T153A Missense 2/11 - 1
19-50463828-C-A c.441G>T p.A147= Synonymous 2/11 - 2
19-50463828-C-G c.441G>C p.A147= Synonymous 2/11 - 2
19-50463828-C-T c.441G>A p.A147= Synonymous 2/11 - 4
19-50463829-G-A c.440C>T p.A147V Missense 2/11 - 11
19-50463832-T-C c.437A>G p.N146S Missense 2/11 - 2
19-50463835-C-T c.434G>A p.S145N Missense 2/11 - 1
19-50463837-C-G c.432G>C p.L144= Synonymous 2/11 - 3
19-50463844-C-G c.425G>C p.S142T Missense 2/11 - 1
19-50463844-CTA-C c.423_424del p.H141Qfs*16 Frameshift 2/11 - 1
19-50463846-A-G c.423T>C p.H141= Synonymous 2/11 - 2
19-50463846-A-T c.423T>A p.H141Q Missense 2/11 - 1
19-50463850-C-T c.419G>A p.R140K Missense 2/11 - 2
19-50463850-CT-GC c.418_419delinsGC p.R140A Missense 2/11 - 1
19-50463850-CT-TG c.418_419delinsCA p.R140Q Missense 2/11 - 2
19-50463852-C-A c.417G>T p.V139= Synonymous 2/11 - 3
19-50463852-C-G c.417G>C p.V139= Synonymous 2/11 - 6
19-50463852-C-T c.417G>A p.V139= Synonymous 2/11 - 4
19-50463855-A-C c.414T>G p.R138= Synonymous 2/11 - 1
19-50463855-A-G c.414T>C p.R138= Synonymous 2/11 - 1
19-50463855-A-T c.414T>A p.R138= Synonymous 2/11 - 1
19-50463857-G-A c.412C>T p.R138C Missense 2/11 - 1
19-50463868-T-C c.401A>G p.E134G Missense 2/11 - 1
19-50463869-C-A c.400G>T p.E134* Nonsense 2/11 - 1
19-50463870-C-T c.399G>A p.V133= Synonymous 2/11 - 1
19-50463875-G-A c.394C>T p.R132W Missense 2/11 - 10
19-50463893-C-A c.376G>T p.E126* Nonsense 2/11 - 2
19-50463893-C-T c.376G>A p.E126K Missense 2/11 - 3
19-50463907-G-A c.362C>T p.A121V Missense 2/11 - 1
19-50463907-GC-AT c.361_362delinsAT p.A121M Missense 2/11 - 1
19-50463908-C-A c.361G>T p.A121S Missense 2/11 - 1
19-50463908-C-T c.361G>A p.A121T Missense 2/11 - 1
19-50463910-T-G c.359A>C p.D120A Missense 2/11 - 1
19-50463913-CT-TG c.355_356delinsCA p.R119Q Missense 2/11 - 2
19-50463914-T-A c.355A>T p.R119* Nonsense 2/11 - 1
19-50463919-A-G c.350T>C p.V117A Missense 2/11 - 1
19-50463923-A-T c.346T>A p.L116M Missense 2/11 - 1
19-50463924-G-A c.345C>T p.S115= Synonymous 2/11 - 2
19-50463927-G-A c.342C>T p.C114= Synonymous 2/11 - 1
19-50463927-G-C c.342C>G p.C114W Missense 2/11 - 1
19-50463939-G-A c.330C>T p.G110= Synonymous 2/11 - 1
19-50463939-G-C c.330C>G p.G110= Synonymous 2/11 - 1
19-50463939-G-T c.330C>A p.G110= Synonymous 2/11 - 1
19-50463940-C-G c.329G>C p.G110A Missense 2/11 - 1
19-50463942-G-A c.327C>T p.P109= Synonymous 2/11 - 1
19-50463942-G-C c.327C>G p.P109= Synonymous 2/11 - 1
19-50463942-G-T c.327C>A p.P109= Synonymous 2/11 - 1
19-50463943-G-T c.326C>A p.P109H Missense 2/11 - 2
19-50463947-C-T c.322G>A p.D108N Missense 2/11 - 2
19-50463954-G-C c.315C>G p.L105= Synonymous 2/11 - 1
19-50463954-TG-T c.315del p.T106Lfs*12 Frameshift 2/11 - 1
19-50463956-G-A c.313C>T p.L105F Missense 2/11 - 1
19-50463963-TCG-CCA c.304_306delinsTGG p.R102W Missense 2/11 - 1
19-50463965-G-A c.304C>T p.R102* Nonsense 2/11 - 2
19-50463967-T-C c.302A>G p.D101G Missense 2/11 - 1
19-50463968-C-CA c.300_301insT p.D101* Nonsense 2/11 - 1
19-50463969-CCG-ACA c.298_300delinsTGT p.R100C Missense 2/11 - 1
19-50463969-C-T c.300G>A p.R100= Synonymous 2/11 - 1
19-50463970-C-T c.299G>A p.R100Q Missense 2/11 - 1
19-50463971-G-A c.298C>T p.R100W Missense 2/11 - 1
19-50463972-GG-CT c.296_297delinsAG p.T99K Missense 2/11 - 1
19-50463975-G-C c.294C>G p.S98R Missense 2/11 - 1
19-50463975-G-T c.294C>A p.S98R Missense 2/11 - 1
19-50463977-T-G c.292A>C p.S98R Missense 2/11 - 1
19-50463979-A-G c.290T>C p.M97T Missense 2/11 - 1
19-50463981-T-C c.288A>G p.E96= Synonymous 2/11 - 2
19-50463982-T-A c.287A>T p.E96V Missense 2/11 - 2
19-50463982-T-G c.287A>C p.E96A Missense 2/11 - 26
19-50463991-C-T c.278G>A p.R93Q Missense 2/11 - 1
19-50463999-G-C c.270C>G p.N90K Missense 2/11 - 3
19-50463999-G-T c.270C>A p.N90K Missense 2/11 - 1
19-50464009-G-C c.260C>G p.A87G Missense 2/11 - 1
19-50464015-G-A c.254C>T p.P85L Missense 2/11 - 2
19-50464019-C-A c.250G>T p.A84S Missense 2/11 - 1
19-50464021-C-A c.248G>T p.G83V Missense 2/11 - 2
19-50464022-C-A c.247G>T p.G83C Missense 2/11 - 1
19-50464023-C-A c.246G>T p.T82= Synonymous 2/11 - 4
19-50464023-C-G c.246G>C p.T82= Synonymous 2/11 - 11
19-50464023-C-T c.246G>A p.T82= Synonymous 2/11 - 10
19-50464024-G-A c.245C>T p.T82M Missense 2/11 - 1
19-50464030-G-A c.239C>T p.P80L Missense 2/11 - 2
19-50464030-G-C c.239C>G p.P80R Missense 2/11 - 2
19-50464030-GG-AT c.238_239delinsAT p.P80I Missense 2/11 - 3
19-50464031-G-T c.238C>A p.P80T Missense 2/11 - 2
19-50464033-C-T c.236G>A p.S79N Missense 2/11 - 2
19-50464036-G-C c.233C>G p.T78S Missense 2/11 - 1
19-50464038-C-T c.231G>A p.R77= Synonymous 2/11 - 3
19-50464039-C-A c.230G>T p.R77L Missense 2/11 - 1
19-50464042-C-T c.227G>A p.G76E Missense 2/11 - 2
19-50464043-C-G c.226G>C p.G76R Missense 2/11 - 1
19-50464043-C-T c.226G>A p.G76R Missense 2/11 - 6
19-50464050-C-T c.219G>A p.W73* Nonsense 2/11 - 1
19-50464056-GC-CT c.212_213delinsAG p.G71E Missense 2/11 - 1
19-50464057-C-A c.212G>T p.G71V Missense 2/11 - 1
19-50464059-A-G c.210T>C p.Y70= Synonymous 2/11 - 2
19-50464060-T-C c.209A>G p.Y70C Missense 2/11 - 1
19-50464072-G-A c.197C>T p.S66F Missense 2/11 - 3
19-50464076-C-T c.193G>A p.E65K Missense 2/11 - 1
19-50464088-C-T c.181G>A p.D61N Missense 2/11 - 2
19-50464091-G-A c.178C>T p.R60W Missense 2/11 - 1
19-50464096-T-A c.173A>T p.Y58F Missense 2/11 - 1
19-50464097-A-C c.172T>G p.Y58D Missense 2/11 - 1
19-50464098-G-A c.171C>T p.S57= Synonymous 2/11 - 1
19-50464098-G-C c.171C>G p.S57= Synonymous 2/11 - 1
19-50464098-G-T c.171C>A p.S57= Synonymous 2/11 - 1
19-50464100-A-T c.169T>A p.S57T Missense 2/11 - 2
19-50464101-G-A c.168C>T p.L56= Synonymous 2/11 - 1
19-50464101-G-C c.168C>G p.L56= Synonymous 2/11 - 1
19-50464101-G-T c.168C>A p.L56= Synonymous 2/11 - 1
19-50464103-G-T c.166C>A p.L56I Missense 2/11 - 1
19-50464104-G-C c.165C>G p.N55K Missense 2/11 - 1
19-50464104-G-T c.165C>A p.N55K Missense 2/11 - 1
19-50464105-T-C c.164A>G p.N55S Missense 2/11 - 1
19-50464111-GACACGATGACACAC-G c.144_157del p.C49Lfs*36 Frameshift 2/11 - 1
19-50464116-G-A c.153C>T p.I51= Synonymous 2/11 - 1
19-50464116-G-C c.153C>G p.I51M Missense 2/11 - 1
19-50464116-G-T c.153C>A p.I51= Synonymous 2/11 - 1
19-50464118-T-C c.151A>G p.I51V Missense 2/11 - 1
19-50464120-A-T c.149T>A p.V50D Missense 2/11 - 1
19-50464123-C-T c.146G>A p.C49Y Missense 2/11 - 1
19-50464126-A-C c.143T>G p.L48R Missense 2/11 - 1
19-50464140-C-A c.129G>T p.P43= Synonymous 2/11 - 1
19-50464140-C-G c.129G>C p.P43= Synonymous 2/11 - 1
19-50464140-C-T c.129G>A p.P43= Synonymous 2/11 - 1
19-50464156-A-G c.113T>C p.V38A Missense 2/11 - 1
19-50464163-GACTGTA-G c.100_105del p.Y34_S35del InFrameDeletion 2/11 - 1
19-50464171-C-G c.98G>C p.S33T Missense 2/11 - 3
19-50464179-C-A c.90G>T p.K30N Missense 2/11 - 1
19-50464184-T-C c.85A>G p.N29D Missense 2/11 - 2
19-50464190-A-G c.79T>C p.S27P Missense 2/11 - 1
19-50464265-G-A c.74C>T p.A25V Missense 1/11 - 1
19-50464269-C-A c.70G>T p.G24W Missense 1/11 - 2
19-50464272-G-T c.67C>A p.L23M Missense 1/11 - 1
19-50464275-C-T c.64G>A p.V22M Missense 1/11 - 1
19-50464276-G-A c.63C>T p.P21= Synonymous 1/11 - 1
19-50464276-G-C c.63C>G p.P21= Synonymous 1/11 - 1
19-50464276-G-T c.63C>A p.P21= Synonymous 1/11 - 1
19-50464284-G-A c.55C>T p.L19= Synonymous 1/11 - 1
19-50464290-G-A c.49C>T p.P17S Missense 1/11 - 2
19-50464330-C-A c.9G>T p.P3= Synonymous 1/11 - 1
19-50464330-C-G c.9G>C p.P3= Synonymous 1/11 - 1
19-50464330-C-T c.9G>A p.P3= Synonymous 1/11 - 1
19-50464331-G-A c.8C>T p.P3L Missense 1/11 - 3