ADD2

ADD2 adducin 2

Annotation transcript: NM_001617.4

970 unique variant annotations were identified in 359 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
2-70889296-C-T c.*1261G>A - 3-UTRSNV 16/16 - 1
2-70889498-A-G c.*1059T>C - 3-UTRSNV 16/16 - 2
2-70889611-C-T c.*946G>A - 3-UTRSNV 16/16 - 1
2-70890568-C-T c.2170G>A p.V724M Missense 16/16 - 1
2-70890574-C-T c.2164G>A p.E722K Missense 16/16 - 3
2-70890575-C-A c.2163G>T p.K721N Missense 16/16 - 1
2-70890576-T-C c.2162A>G p.K721R Missense 16/16 - 1
2-70890578-C-T c.2160G>A p.K720= Synonymous 16/16 - 1
2-70890584-G-C c.2154C>G p.S718R Missense 16/16 - 2
2-70890584-G-T c.2154C>A p.S718R Missense 16/16 - 2
2-70890585-C-A c.2153G>T p.S718I Missense 16/16 - 1
2-70890586-T-G c.2152A>C p.S718R Missense 16/16 - 3
2-70890587-C-T c.2151G>A p.K717= Synonymous 16/16 - 1
2-70890592-T-G c.2146A>C p.K716Q Missense 16/16 - 1
2-70890593-C-A c.2145G>T p.L715= Synonymous 16/16 - 1
2-70890593-C-G c.2145G>C p.L715= Synonymous 16/16 - 1
2-70890593-C-T c.2145G>A p.L715= Synonymous 16/16 - 1
2-70890595-G-A c.2143C>T p.L715= Synonymous 16/16 - 4
2-70890596-G-A c.2142C>T p.F714= Synonymous 16/16 - 1
2-70890602-G-A c.2136C>T p.P712= Synonymous 16/16 - 1
2-70890603-G-A c.2135C>T p.P712L Missense 16/16 - 4
2-70890604-G-A c.2134C>T p.P712S Missense 16/16 - 4
2-70890605-GG-CA c.2132_2133delinsTG p.T711M Missense 16/16 - 1
2-70890606-G-T c.2132C>A p.T711N Missense 16/16 - 1
2-70890607-T-C c.2131A>G p.T711A Missense 16/16 - 1
2-70890609-C-T c.2129G>A p.R710Q Missense 16/16 - 1
2-70890610-G-A c.2128C>T p.R710* Nonsense 16/16 - 8
2-70890611-G-A c.2127C>T p.F709= Synonymous 16/16 - 2
2-70890611-G-C c.2127C>G p.F709L Missense 16/16 - 2
2-70890611-G-T c.2127C>A p.F709L Missense 16/16 - 1
2-70890613-A-G c.2125T>C p.F709L Missense 16/16 - 1
2-70890617-C-A c.2121G>T p.K707N Missense 16/16 - 4
2-70890617-C-G c.2121G>C p.K707N Missense 16/16 - 4
2-70890626-C-T c.2112G>A p.K704= Synonymous 16/16 - 1
2-70890630-G-C c.2108C>G p.S703* Nonsense 16/16 - 1
2-70890630-G-T c.2108C>A p.S703* Nonsense 16/16 - 1
2-70890634-G-A c.2104C>T p.P702S Missense 16/16 - 6
2-70890642-G-A c.2096C>T p.S699F Missense 16/16 - 2
2-70890645-G-A c.2093C>T p.P698L Missense 16/16 - 1
2-70890646-G-A c.2092C>T p.P698S Missense 16/16 - 1
2-70890647-T-A c.2091A>T p.S697= Synonymous 16/16 - 1
2-70890647-T-C c.2091A>G p.S697= Synonymous 16/16 - 1
2-70890647-T-G c.2091A>C p.S697= Synonymous 16/16 - 1
2-70890651-C-T c.2087G>A p.G696D Missense 16/16 - 1
2-70890655-C-T c.2083G>A p.E695K Missense 16/16 - 1
2-70890656-T-A c.2082A>T p.P694= Synonymous 16/16 - 1
2-70890656-T-C c.2082A>G p.P694= Synonymous 16/16 - 1
2-70890656-T-G c.2082A>C p.P694= Synonymous 16/16 - 1
2-70890659-G-A c.2079C>T p.S693= Synonymous 16/16 - 1
2-70890659-G-C c.2079C>G p.S693= Synonymous 16/16 - 1
2-70890659-G-T c.2079C>A p.S693= Synonymous 16/16 - 1
2-70890660-G-A c.2078C>T p.S693F Missense 16/16 - 1
2-70890664-TG-T c.2073del p.M692Cfs*24 Frameshift 16/16 - 1
2-70890671-G-A c.2067C>T p.S689= Synonymous 16/16 - 1
2-70890673-T-C c.2065A>G p.S689G Missense 16/16 - 1
2-70890678-A-C c.2060T>G p.V687G Missense 16/16 - 1
2-70890680-C-A c.2058G>T p.S686= Synonymous 16/16 - 2
2-70890680-C-G c.2058G>C p.S686= Synonymous 16/16 - 1
2-70890680-C-T c.2058G>A p.S686= Synonymous 16/16 - 1
2-70890681-G-A c.2057C>T p.S686L Missense 16/16 - 4
2-70890686-G-A c.2052C>T p.T684= Synonymous 16/16 - 1
2-70890686-G-C c.2052C>G p.T684= Synonymous 16/16 - 1
2-70890686-G-T c.2052C>A p.T684= Synonymous 16/16 - 1
2-70890694-C-G c.2044G>C p.D682H Missense 16/16 - 1
2-70890699-G-A c.2039C>T p.S680F Missense 16/16 - 1
2-70890712-C-G c.2026G>C p.D676H Missense 16/16 - 1
2-70890713-C-A c.2025G>T p.T675= Synonymous 16/16 - 1
2-70890713-C-G c.2025G>C p.T675= Synonymous 16/16 - 1
2-70890713-C-T c.2025G>A p.T675= Synonymous 16/16 - 1
2-70890714-G-A c.2024C>T p.T675M Missense 16/16 - 2
2-70890738-C-A c.2000G>T p.S667I Missense 16/16 - 1
2-70890738-C-T c.2000G>A p.S667N Missense 16/16 - 4
2-70890738-CT-AG c.1999_2000inv p.S667L Missense 16/16 - 1
2-70890740-CAG-AAA c.1996_1998delinsTTT p.L666F Missense 16/16 - 1
2-70890742-G-A c.1996C>T p.L666= Synonymous 16/16 - 2
2-70890743-G-A c.1995C>T p.G665= Synonymous 16/16 - 1
2-70890745-C-G c.1993G>C p.G665R Missense 16/16 - 1
2-70890749-G-A c.1989C>T p.S663= Synonymous 16/16 - 1
2-70890749-G-C c.1989C>G p.S663R Missense 16/16 - 1
2-70890749-G-T c.1989C>A p.S663R Missense 16/16 - 2
2-70890751-T-G c.1987A>C p.S663R Missense 16/16 - 1
2-70890750-C-T c.1988G>A p.S663N Missense 16/16 - 2
2-70890752-G-A c.1986C>T p.L662= Synonymous 16/16 - 1
2-70890754-G-A c.1984C>T p.L662F Missense 16/16 - 2
2-70890755-G-A c.1983C>T p.I661= Synonymous 16/16 - 1
2-70890755-G-C c.1983C>G p.I661M Missense 16/16 - 1
2-70890755-G-T c.1983C>A p.I661= Synonymous 16/16 - 1
2-70890758-T-A c.1980A>T p.E660D Missense 16/16 - 1
2-70890760-C-T c.1978G>A p.E660K Missense 16/16 - 11
2-70890763-C-T c.1975G>A p.E659K Missense 16/16 - 7
2-70890767-C-A c.1971G>T p.T657= Synonymous 16/16 - 1
2-70890767-C-G c.1971G>C p.T657= Synonymous 16/16 - 1
2-70890767-C-T c.1971G>A p.T657= Synonymous 16/16 - 3
2-70890768-G-A c.1970C>T p.T657M Missense 16/16 - 4
2-70890772-G-A c.1966C>T p.Q656* Nonsense 16/16 - 1
2-70890776-C-T c.1962G>A p.E654= Synonymous 16/16 - 1
2-70890778-C-A c.1960G>T p.E654* Nonsense 16/16 - 1
2-70890779-C-T c.1959G>A p.E653= Synonymous 16/16 - 1
2-70890781-C-T c.1957G>A p.E653K Missense 16/16 - 4
2-70890786-CC-TA c.1951_1952delinsTA p.G651* Nonsense 16/16 - 1
2-70890786-C-T c.1952G>A p.G651E Missense 16/16 - 2
2-70890787-C-T c.1951G>A p.G651R Missense 16/16 - 3
2-70890788-G-A c.1950C>T p.N650= Synonymous 16/16 - 2
2-70890798-A-C c.1940T>G p.V647G Missense 16/16 - 1
2-70890800-C-A c.1938G>T p.G646= Synonymous 16/16 - 1
2-70890800-C-G c.1938G>C p.G646= Synonymous 16/16 - 1
2-70890800-C-T c.1938G>A p.G646= Synonymous 16/16 - 2
2-70890802-C-G c.1936G>C p.G646R Missense 16/16 - 1
2-70890802-C-T c.1936G>A p.G646R Missense 16/16 - 1
2-70890804-T-G c.1934A>C p.E645A Missense 16/16 - 1
2-70890806-C-A c.1932G>T p.P644= Synonymous 16/16 - 2
2-70890806-C-G c.1932G>C p.P644= Synonymous 16/16 - 2
2-70890806-C-T c.1932G>A p.P644= Synonymous 16/16 - 3
2-70890807-G-A c.1931C>T p.P644L Missense 16/16 - 1
2-70890811-G-A c.1927C>T p.Q643* Nonsense 16/16 - 1
2-70890812-G-A c.1926C>T p.T642= Synonymous 16/16 - 1
2-70890812-G-C c.1926C>G p.T642= Synonymous 16/16 - 1
2-70890812-G-T c.1926C>A p.T642= Synonymous 16/16 - 1
2-70890813-G-A c.1925C>T p.T642I Missense 16/16 - 4
2-70890818-T-A c.1920A>T p.E640D Missense 16/16 - 1
2-70890818-T-G c.1920A>C p.E640D Missense 16/16 - 1
2-70890820-C-T c.1918G>A p.E640K Missense 16/16 - 2
2-70890821-G-A c.1917C>T p.P639= Synonymous 16/16 - 1
2-70890821-G-C c.1917C>G p.P639= Synonymous 16/16 - 1
2-70890821-G-T c.1917C>A p.P639= Synonymous 16/16 - 1
2-70890832-T-C c.1906A>G p.T636A Missense 16/16 - 1
2-70890833-G-A c.1905C>T p.A635= Synonymous 16/16 - 1
2-70890833-G-C c.1905C>G p.A635= Synonymous 16/16 - 1
2-70890833-G-T c.1905C>A p.A635= Synonymous 16/16 - 1
2-70890835-C-T c.1903G>A p.A635T Missense 16/16 - 1
2-70890836-G-A c.1902C>T p.A634= Synonymous 16/16 - 1
2-70890837-G-A c.1901C>T p.A634V Missense 16/16 - 2
2-70890843-CT-AG c.1894_1895inv p.S632L Missense 16/16 - 1
2-70890850-C-A c.1888G>T p.E630* Nonsense 16/16 - 1
2-70890850-C-T c.1888G>A p.E630K Missense 16/16 - 4
2-70890851-T-C c.1887A>G p.T629= Synonymous 16/16 - 4
2-70890857-C-T c.1881G>A p.K627= Synonymous 16/16 - 3
2-70895899-T-G c.1870+4111A>C - IntronicSNV - 15/15 1
2-70896062-C-T c.1870+3948G>A - IntronicSNV - 15/15 1
2-70898629-GA-G c.1870+1380del - IntronicDeletion - 15/15 1
2-70899933-G-A c.1870+77C>T - IntronicSNV - 15/15 1
2-70899967-T-A c.1870+43A>T - IntronicSNV - 15/15 1
2-70900008-A-C c.1870+2T>G - IntronicSNV - 15/15 1
2-70900010-C-A c.1870G>T p.E624* Nonsense 15/16 - 1
2-70900013-C-G c.1867G>C p.E623Q Missense 15/16 - 2
2-70900017-A-C c.1863T>G p.S621= Synonymous 15/16 - 1
2-70900017-A-G c.1863T>C p.S621= Synonymous 15/16 - 1
2-70900017-A-T c.1863T>A p.S621= Synonymous 15/16 - 1
2-70900018-G-A c.1862C>T p.S621F Missense 15/16 - 2
2-70900018-G-T c.1862C>A p.S621Y Missense 15/16 - 2
2-70900027-G-T c.1853C>A p.P618H Missense 15/16 - 2
2-70900029-A-C c.1851T>G p.S617= Synonymous 15/16 - 1
2-70900029-A-G c.1851T>C p.S617= Synonymous 15/16 - 1
2-70900029-A-T c.1851T>A p.S617= Synonymous 15/16 - 1
2-70900030-GA-AG c.1849_1850delinsCT p.S617L Missense 15/16 - 1
2-70900034-C-T c.1846G>A p.V616I Missense 15/16 - 1
2-70900052-C-T c.1828G>A p.E610K Missense 15/16 - 2
2-70900055-C-T c.1825G>A p.A609T Missense 15/16 - 1
2-70900058-C-T c.1822G>A p.E608K Missense 15/16 - 1
2-70900068-G-C c.1812C>G p.S604R Missense 15/16 - 1
2-70900080-A-C c.1800T>G p.S600= Synonymous 15/16 - 1
2-70900080-A-G c.1800T>C p.S600= Synonymous 15/16 - 1
2-70900080-A-T c.1800T>A p.S600= Synonymous 15/16 - 1
2-70900081-G-A c.1799C>T p.S600F Missense 15/16 - 2
2-70900082-A-C c.1798T>G p.S600A Missense 15/16 - 1
2-70900084-G-A c.1796C>T p.A599V Missense 15/16 - 2
2-70900092-A-C c.1788T>G p.S596= Synonymous 15/16 - 1
2-70900092-A-G c.1788T>C p.S596= Synonymous 15/16 - 1
2-70900092-A-T c.1788T>A p.S596= Synonymous 15/16 - 1
2-70900104-T-A c.1776A>T p.S592= Synonymous 15/16 - 1
2-70900104-T-C c.1776A>G p.S592= Synonymous 15/16 - 1
2-70900104-T-G c.1776A>C p.S592= Synonymous 15/16 - 1
2-70900105-G-A c.1775C>T p.S592L Missense 15/16 - 1
2-70900108-C-G c.1772G>C p.G591A Missense 15/16 - 2
2-70900109-C-A c.1771G>T p.G591C Missense 15/16 - 1
2-70900118-C-G c.1762G>C p.E588Q Missense 15/16 - 1
2-70900122-G-A c.1758C>T p.A586= Synonymous 15/16 - 1
2-70900122-G-C c.1758C>G p.A586= Synonymous 15/16 - 1
2-70900122-G-T c.1758C>A p.A586= Synonymous 15/16 - 1
2-70900138-C-T c.1742G>A p.G581E Missense 15/16 - 3
2-70900403-G-A c.1742-265C>T - IntronicSNV - 14/15 12
2-70900414-C-T c.1742-276G>A - IntronicSNV - 14/15 1
2-70900420-C-T c.1742-282G>A - IntronicSNV - 14/15 2
2-70901699-A-G c.1741+111T>C - IntronicSNV - 14/15 1
2-70901785-A-G c.1741+25T>C - IntronicSNV - 14/15 2
2-70901788-GGT-G c.1741+20_1741+21del - IntronicDeletion - 14/15 1
2-70901808-A-G c.1741+2T>C - IntronicSNV - 14/15 1
2-70901809-C-A c.1741+1G>T - IntronicSNV - 14/15 1
2-70901813-C-T c.1738G>A p.D580N Missense 14/16 - 1
2-70901819-C-T c.1732G>A p.E578K Missense 14/16 - 2
2-70901822-G-T c.1729C>A p.L577I Missense 14/16 - 1
2-70901823-T-C c.1728A>G p.K576= Synonymous 14/16 - 1
2-70901830-C-T c.1721G>A p.R574K Missense 14/16 - 1
2-70901833-CT-C c.1718del p.E573Gfs*5 Frameshift 14/16 - 1
2-70901834-C-T c.1717G>A p.E573K Missense 14/16 - 3
2-70901835-C-A c.1716G>T p.V572= Synonymous 14/16 - 1
2-70901835-C-G c.1716G>C p.V572= Synonymous 14/16 - 1
2-70901835-C-T c.1716G>A p.V572= Synonymous 14/16 - 1
2-70901838-C-A c.1713G>T p.E571D Missense 14/16 - 1
2-70901838-C-G c.1713G>C p.E571D Missense 14/16 - 1
2-70901838-C-T c.1713G>A p.E571= Synonymous 14/16 - 1
2-70901848-T-C c.1703A>G p.Y568C Missense 14/16 - 1
2-70901853-C-T c.1698G>A p.E566= Synonymous 14/16 - 1
2-70901855-C-G c.1696G>C p.E566Q Missense 14/16 - 1
2-70901856-C-T c.1695G>A p.L565= Synonymous 14/16 - 1
2-70901857-A-C c.1694T>G p.L565W Missense 14/16 - 1
2-70901859-C-T c.1692G>A p.E564= Synonymous 14/16 - 1
2-70901861-C-T c.1690G>A p.E564K Missense 14/16 - 1
2-70901862-C-A c.1689G>T p.Q563H Missense 14/16 - 1
2-70901862-C-G c.1689G>C p.Q563H Missense 14/16 - 1
2-70901867-C-T c.1684G>A p.D562N Missense 14/16 - 1
2-70901870-T-G c.1681A>C p.T561P Missense 14/16 - 1
2-70901875-T-A c.1676A>T p.Q559L Missense 14/16 - 2
2-70901878-C-A c.1673G>T p.S558I Missense 14/16 - 1
2-70901886-G-A c.1665C>T p.N555= Synonymous 14/16 - 1
2-70901886-G-T c.1665C>A p.N555K Missense 14/16 - 1
2-70901887-T-C c.1664A>G p.N555S Missense 14/16 - 1
2-70901887-T-G c.1664A>C p.N555T Missense 14/16 - 1
2-70901894-C-T c.1657G>A p.V553M Missense 14/16 - 6
2-70901895-C-T c.1656G>A p.T552= Synonymous 14/16 - 1
2-70901896-G-A c.1655C>T p.T552M Missense 14/16 - 5
2-70901900-C-A c.1651G>T p.E551* Nonsense 14/16 - 1
2-70901904-TG-AT c.1646_1647delinsAT p.S549Y Missense 14/16 - 1
2-70901905-G-A c.1646C>T p.S549L Missense 14/16 - 3
2-70901909-C-T c.1642G>A p.D548N Missense 14/16 - 2
2-70901910-G-A c.1641C>T p.D547= Synonymous 14/16 - 1
2-70901912-C-A c.1639G>T p.D547Y Missense 14/16 - 1
2-70901912-C-T c.1639G>A p.D547N Missense 14/16 - 1
2-70901918-T-C c.1633A>G p.T545A Missense 14/16 - 1
2-70901923-T-G c.1628A>C p.E543A Missense 14/16 - 1
2-70901924-C-T c.1627G>A p.E543K Missense 14/16 - 2
2-70901925-G-A c.1626C>T p.D542= Synonymous 14/16 - 4
2-70901929-C-T c.1622G>A p.G541E Missense 14/16 - 4
2-70901930-C-T c.1621G>A p.G541R Missense 14/16 - 3
2-70901940-C-A c.1611G>T p.L537= Synonymous 14/16 - 1
2-70901946-G-A c.1605C>T p.S535= Synonymous 14/16 - 1
2-70901947-C-T c.1604G>A p.S535N Missense 14/16 - 1
2-70901955-A-C c.1596T>G p.S532= Synonymous 14/16 - 1
2-70901955-A-G c.1596T>C p.S532= Synonymous 14/16 - 1
2-70901955-A-T c.1596T>A p.S532= Synonymous 14/16 - 1
2-70902120-T-A c.1594-163A>T - IntronicSNV - 13/15 1
2-70902502-C-T c.1594-545G>A - IntronicSNV - 13/15 2
2-70902672-C-A c.1594-715G>T - IntronicSNV - 13/15 2
2-70902672-C-T c.1594-715G>A - IntronicSNV - 13/15 2
2-70902823-C-T c.1594-866G>A - IntronicSNV - 13/15 1
2-70903664-G-A c.1593+264C>T - IntronicSNV - 13/15 2
2-70903769-T-G c.1593+159A>C - IntronicSNV - 13/15 1
2-70903803-C-T c.1593+125G>A - IntronicSNV - 13/15 1
2-70903845-G-A c.1593+83C>T - IntronicSNV - 13/15 1
2-70903846-G-A c.1593+82C>T - IntronicSNV - 13/15 1
2-70903850-C-T c.1593+78G>A - IntronicSNV - 13/15 1
2-70903857-C-G c.1593+71G>C - IntronicSNV - 13/15 1
2-70903857-C-T c.1593+71G>A - IntronicSNV - 13/15 1
2-70903863-C-A c.1593+65G>T - IntronicSNV - 13/15 1
2-70903875-G-A c.1593+53C>T - IntronicSNV - 13/15 1
2-70903876-A-G c.1593+52T>C - IntronicSNV - 13/15 1
2-70903878-C-A c.1593+50G>T - IntronicSNV - 13/15 1
2-70903881-G-A c.1593+47C>T - IntronicSNV - 13/15 3
2-70903893-G-A c.1593+35C>T - IntronicSNV - 13/15 1
2-70903896-T-C c.1593+32A>G - IntronicSNV - 13/15 1
2-70903897-C-T c.1593+31G>A - IntronicSNV - 13/15 1
2-70903898-C-T c.1593+30G>A - IntronicSNV - 13/15 1
2-70903899-C-T c.1593+29G>A - IntronicSNV - 13/15 1
2-70903900-C-G c.1593+28G>C - IntronicSNV - 13/15 1
2-70903900-C-T c.1593+28G>A - IntronicSNV - 13/15 2
2-70903901-G-A c.1593+27C>T - IntronicSNV - 13/15 2
2-70903910-G-A c.1593+18C>T - IntronicSNV - 13/15 1
2-70903913-C-G c.1593+15G>C - IntronicSNV - 13/15 1
2-70903919-C-T c.1593+9G>A - IntronicSNV - 13/15 1
2-70903924-C-G c.1593+4G>C - IntronicSNV - 13/15 1
2-70903924-C-T c.1593+4G>A - IntronicSNV - 13/15 1
2-70903927-C-T c.1593+1G>A - IntronicSNV - 13/15 1
2-70903928-C-A c.1593G>T p.P531= Synonymous 13/16 - 1
2-70903928-C-G c.1593G>C p.P531= Synonymous 13/16 - 1
2-70903928-C-T c.1593G>A p.P531= Synonymous 13/16 - 3
2-70903929-G-A c.1592C>T p.P531L Missense 13/16 - 1
2-70903931-G-A c.1590C>T p.S530= Synonymous 13/16 - 1
2-70903931-G-T c.1590C>A p.S530R Missense 13/16 - 1
2-70903932-C-T c.1589G>A p.S530N Missense 13/16 - 1
2-70903935-C-A c.1586G>T p.R529L Missense 13/16 - 2
2-70903935-C-T c.1586G>A p.R529Q Missense 13/16 - 5
2-70903936-G-A c.1585C>T p.R529* Nonsense 13/16 - 5
2-70903945-C-A c.1576G>T p.E526* Nonsense 13/16 - 1
2-70903945-C-T c.1576G>A p.E526K Missense 13/16 - 1
2-70903946-G-A c.1575C>T p.A525= Synonymous 13/16 - 3
2-70903946-G-C c.1575C>G p.A525= Synonymous 13/16 - 2
2-70903946-G-T c.1575C>A p.A525= Synonymous 13/16 - 1
2-70903947-G-A c.1574C>T p.A525V Missense 13/16 - 2
2-70903948-C-T c.1573G>A p.A525T Missense 13/16 - 1
2-70903954-C-T c.1567G>A p.V523I Missense 13/16 - 5
2-70903955-G-A c.1566C>T p.S522= Synonymous 13/16 - 3
2-70903956-CT-AA c.1564_1565delinsTT p.S522F Missense 13/16 - 2
2-70903958-C-T c.1563G>A p.A521= Synonymous 13/16 - 1
2-70903959-G-A c.1562C>T p.A521V Missense 13/16 - 6
2-70903959-G-T c.1562C>A p.A521E Missense 13/16 - 1
2-70903969-G-A c.1552C>T p.Q518* Nonsense 13/16 - 1
2-70903971-G-A c.1550C>T p.S517F Missense 13/16 - 1
2-70903984-C-G c.1537G>C p.A513P Missense 13/16 - 1
2-70903991-C-T c.1530G>A p.V510= Synonymous 13/16 - 1
2-70903992-A-T c.1529T>A p.V510E Missense 13/16 - 1
2-70904002-G-A c.1519C>T p.R507* Nonsense 13/16 - 1
2-70904004-T-G c.1517A>C p.N506T Missense 13/16 - 1
2-70904008-G-T c.1513C>A p.Q505K Missense 13/16 - 1
2-70904013-C-G c.1508G>C p.R503P Missense 13/16 - 1
2-70904013-C-T c.1508G>A p.R503Q Missense 13/16 - 3
2-70904014-G-A c.1507C>T p.R503* Nonsense 13/16 - 4
2-70904560-C-T c.1503+330G>A - IntronicSNV - 12/15 1
2-70904869-G-C c.1503+21C>G - IntronicSNV - 12/15 1
2-70904892-T-A c.1501A>T p.K501* Nonsense 12/16 - 1
2-70904894-T-C c.1499A>G p.N500S Missense 12/16 - 1
2-70904897-C-A c.1496G>T p.R499M Missense 12/16 - 1
2-70904897-CT-TG c.1495_1496delinsCA p.R499Q Missense 12/16 - 1
2-70904899-C-A c.1494G>T p.M498I Missense 12/16 - 1
2-70904899-C-G c.1494G>C p.M498I Missense 12/16 - 1
2-70904899-C-T c.1494G>A p.M498I Missense 12/16 - 1
2-70904902-C-T c.1491G>A p.E497= Synonymous 12/16 - 1
2-70904903-T-C c.1490A>G p.E497G Missense 12/16 - 1
2-70904908-T-A c.1485A>T p.V495= Synonymous 12/16 - 1
2-70904908-T-C c.1485A>G p.V495= Synonymous 12/16 - 1
2-70904908-T-G c.1485A>C p.V495= Synonymous 12/16 - 1
2-70904909-A-T c.1484T>A p.V495E Missense 12/16 - 1
2-70904911-T-A c.1482A>T p.E494D Missense 12/16 - 1
2-70904911-T-G c.1482A>C p.E494D Missense 12/16 - 1
2-70904913-C-T c.1480G>A p.E494K Missense 12/16 - 3
2-70904917-G-A c.1476C>T p.P492= Synonymous 12/16 - 3
2-70904917-G-C c.1476C>G p.P492= Synonymous 12/16 - 4
2-70904917-G-T c.1476C>A p.P492= Synonymous 12/16 - 3
2-70904922-C-T c.1471G>A p.D491N Missense 12/16 - 1
2-70904934-G-A c.1459C>T p.P487S Missense 12/16 - 3
2-70904939-A-C c.1454T>G p.F485C Missense 12/16 - 3
2-70904955-C-A c.1438G>T p.E480* Nonsense 12/16 - 1
2-70904955-C-T c.1438G>A p.E480K Missense 12/16 - 9
2-70904956-G-A c.1437C>T p.I479= Synonymous 12/16 - 4
2-70904956-G-T c.1437C>A p.I479= Synonymous 12/16 - 3
2-70904960-C-T c.1433G>A p.R478H Missense 12/16 - 2
2-70904961-G-A c.1432C>T p.R478C Missense 12/16 - 6
2-70904965-C-A c.1428G>T p.P476= Synonymous 12/16 - 1
2-70904965-C-G c.1428G>C p.P476= Synonymous 12/16 - 3
2-70904965-C-T c.1428G>A p.P476= Synonymous 12/16 - 2
2-70904966-G-A c.1427C>T p.P476L Missense 12/16 - 1
2-70904977-G-C c.1416C>G p.S472R Missense 12/16 - 1
2-70904977-G-T c.1416C>A p.S472R Missense 12/16 - 1
2-70904979-T-G c.1414A>C p.S472R Missense 12/16 - 2
2-70904981-G-T c.1412C>A p.S471Y Missense 12/16 - 4
2-70904983-T-C c.1410A>G p.K470= Synonymous 12/16 - 2
2-70904988-C-T c.1405G>A p.E469K Missense 12/16 - 2
2-70904992-C-A c.1401G>T p.E467D Missense 12/16 - 1
2-70904997-C-G c.1396G>C p.D466H Missense 12/16 - 1
2-70905005-A-T c.1388T>A p.M463K Missense 12/16 - 1
2-70905099-T-G c.1384-90A>C - IntronicSNV - 11/15 3
2-70905837-G-A c.1382C>T p.T461M Missense 11/16 - 3
2-70905845-G-A c.1374C>T p.P458= Synonymous 11/16 - 2
2-70905846-G-T c.1373C>A p.P458H Missense 11/16 - 2
2-70905850-G-A c.1369C>T p.R457* Nonsense 11/16 - 2
2-70905853-G-A c.1366C>T p.P456S Missense 11/16 - 1
2-70905853-G-T c.1366C>A p.P456T Missense 11/16 - 2
2-70905854-G-A c.1365C>T p.S455= Synonymous 11/16 - 1
2-70905855-C-T c.1364G>A p.S455N Missense 11/16 - 1
2-70905858-C-T c.1361G>A p.G454D Missense 11/16 - 1
2-70905866-CCT-ACA c.1351_1353delinsTGT p.R451C Missense 11/16 - 1
2-70905868-T-A c.1351A>T p.R451W Missense 11/16 - 1
2-70905880-C-T c.1339G>A p.D447N Missense 11/16 - 5
2-70905882-G-A c.1337C>T p.A446V Missense 11/16 - 1
2-70905883-C-T c.1336G>A p.A446T Missense 11/16 - 1
2-70905889-T-A c.1330A>T p.N444Y Missense 11/16 - 1
2-70905891-A-T c.1328T>A p.V443D Missense 11/16 - 1
2-70905894-C-T c.1325G>A p.R442Q Missense 11/16 - 1
2-70905895-G-A c.1324C>T p.R442W Missense 11/16 - 2
2-70905902-G-A c.1317C>T p.T439= Synonymous 11/16 - 1
2-70905902-G-C c.1317C>G p.T439= Synonymous 11/16 - 1
2-70905902-G-T c.1317C>A p.T439= Synonymous 11/16 - 1
2-70905904-T-A c.1315A>T p.T439S Missense 11/16 - 1
2-70905904-T-C c.1315A>G p.T439A Missense 11/16 - 2
2-70905907-T-A c.1312A>T p.N438Y Missense 11/16 - 2
2-70905912-G-A c.1307C>T p.T436M Missense 11/16 - 8
2-70905913-T-C c.1306A>G p.T436A Missense 11/16 - 1
2-70905920-C-A c.1299G>T p.W433C Missense 11/16 - 5
2-70905920-C-G c.1299G>C p.W433C Missense 11/16 - 4
2-70905923-GCG-CAT c.1294_1296delinsATG p.R432M Missense 11/16 - 1
2-70905924-C-A c.1295G>T p.R432L Missense 11/16 - 1
2-70905924-C-T c.1295G>A p.R432H Missense 11/16 - 2
2-70905932-C-A c.1287G>T p.E429D Missense 11/16 - 1
2-70905932-C-G c.1287G>C p.E429D Missense 11/16 - 1
2-70905935-C-T c.1284G>A p.K428= Synonymous 11/16 - 1
2-70905944-C-T c.1275G>A p.K425= Synonymous 11/16 - 1
2-70905950-G-A c.1269C>T p.A423= Synonymous 11/16 - 1
2-70905951-G-A c.1268C>T p.A423V Missense 11/16 - 3
2-70905955-G-A c.1264C>T p.H422Y Missense 11/16 - 3
2-70905956-C-T c.1263G>A p.Q421= Synonymous 11/16 - 1
2-70905957-T-G c.1262A>C p.Q421P Missense 11/16 - 1
2-70905960-C-T c.1259G>A p.R420Q Missense 11/16 - 1
2-70905961-G-A c.1258C>T p.R420* Nonsense 11/16 - 6
2-70905961-G-T c.1258C>A p.R420= Synonymous 11/16 - 1
2-70905964-G-T c.1255C>A p.L419M Missense 11/16 - 2
2-70905966-G-A c.1253C>T p.A418V Missense 11/16 - 1
2-70905967-C-T c.1252G>A p.A418T Missense 11/16 - 6
2-70905969-G-A c.1250C>T p.P417L Missense 11/16 - 1
2-70905971-C-A c.1248G>T p.V416= Synonymous 11/16 - 2
2-70905976-G-A c.1243C>T p.P415S Missense 11/16 - 2
2-70905974-CG-C c.1244del p.P415Rfs*49 Frameshift 11/16 - 1
2-70905978-G-T c.1241C>A p.A414D Missense 11/16 - 1
2-70905979-C-T c.1240G>A p.A414T Missense 11/16 - 1
2-70905985-C-T c.1234G>A p.D412N Missense 11/16 - 1
2-70905986-C-T c.1233G>A p.E411= Synonymous 11/16 - 2
2-70905988-C-G c.1231G>C p.E411Q Missense 11/16 - 1
2-70905988-C-T c.1231G>A p.E411K Missense 11/16 - 1
2-70905997-C-T c.1222G>A p.V408M Missense 11/16 - 2
2-70905998-G-A c.1221C>T p.F407= Synonymous 11/16 - 3
2-70906009-C-T c.1210G>A p.V404I Missense 11/16 - 3
2-70906010-C-A c.1209G>T p.T403= Synonymous 11/16 - 2
2-70906010-C-G c.1209G>C p.T403= Synonymous 11/16 - 3
2-70906010-C-T c.1209G>A p.T403= Synonymous 11/16 - 4
2-70906011-G-A c.1208C>T p.T403M Missense 11/16 - 5
2-70906013-TGGC-T c.1204_1206del p.A402del InFrameDeletion 11/16 - 1
2-70906014-G-A c.1205C>T p.A402V Missense 11/16 - 5
2-70906020-A-T c.1199T>A p.I400N Missense 11/16 - 1
2-70906021-T-A c.1198A>T p.I400F Missense 11/16 - 1
2-70906031-A-C c.1188T>G p.S396R Missense 11/16 - 3
2-70906031-A-T c.1188T>A p.S396R Missense 11/16 - 4
2-70906033-T-G c.1186A>C p.S396R Missense 11/16 - 3
2-70906032-C-T c.1187G>A p.S396N Missense 11/16 - 1
2-70906038-T-G c.1181A>C p.H394P Missense 11/16 - 2
2-70906058-A-G c.1161T>C p.F387= Synonymous 11/16 - 1
2-70906063-G-A c.1156C>T p.P386S Missense 11/16 - 1
2-70906066-G-A c.1153C>T p.H385Y Missense 11/16 - 1
2-70906068-C-G c.1151G>C p.R384P Missense 11/16 - 1
2-70906068-C-T c.1151G>A p.R384H Missense 11/16 - 2
2-70906069-G-A c.1150C>T p.R384C Missense 11/16 - 5
2-70906069-G-C c.1150C>G p.R384G Missense 11/16 - 3
2-70906074-G-A c.1145C>T p.T382M Missense 11/16 - 4
2-70906075-T-C c.1144A>G p.T382A Missense 11/16 - 1
2-70906079-A-C c.1140T>G p.G380= Synonymous 11/16 - 1
2-70906079-A-G c.1140T>C p.G380= Synonymous 11/16 - 1
2-70906079-A-T c.1140T>A p.G380= Synonymous 11/16 - 1
2-70906082-T-A c.1137A>T p.T379= Synonymous 11/16 - 1
2-70906082-T-C c.1137A>G p.T379= Synonymous 11/16 - 2
2-70906082-T-G c.1137A>C p.T379= Synonymous 11/16 - 1
2-70906086-C-T c.1133G>A p.R378K Missense 11/16 - 5
2-70906090-A-T c.1129T>A p.Y377N Missense 11/16 - 1
2-70906092-C-T c.1127G>A p.G376D Missense 11/16 - 1
2-70906093-C-T c.1126G>A p.G376S Missense 11/16 - 1
2-70906115-C-A c.1126-22G>T - IntronicSNV - 10/15 6
2-70908810-GT-G c.1125+1912del - IntronicDeletion - 10/15 1
2-70910732-C-A c.1116G>T p.L372= Synonymous 10/16 - 1
2-70910746-G-A c.1102C>T p.L368F Missense 10/16 - 1
2-70910752-C-A c.1096G>T p.E366* Nonsense 10/16 - 1
2-70910753-A-G c.1095T>C p.F365= Synonymous 10/16 - 1
2-70910763-T-C c.1085A>G p.E362G Missense 10/16 - 1
2-70910766-CC-TT c.1081_1082delinsAA p.G361K Missense 10/16 - 1
2-70910768-C-A c.1080G>T p.L360= Synonymous 10/16 - 2
2-70910768-C-G c.1080G>C p.L360= Synonymous 10/16 - 2
2-70910768-C-T c.1080G>A p.L360= Synonymous 10/16 - 2
2-70910770-G-A c.1078C>T p.L360= Synonymous 10/16 - 2
2-70910772-C-T c.1076G>A p.R359Q Missense 10/16 - 2
2-70910773-G-A c.1075C>T p.R359W Missense 10/16 - 2
2-70910779-T-C c.1069A>G p.K357E Missense 10/16 - 1
2-70910787-G-A c.1061C>T p.P354L Missense 10/16 - 1
2-70910787-G-T c.1061C>A p.P354H Missense 10/16 - 1
2-70910791-C-A c.1057G>T p.G353W Missense 10/16 - 1
2-70910791-C-T c.1057G>A p.G353R Missense 10/16 - 1
2-70910793-A-G c.1055T>C p.F352S Missense 10/16 - 1
2-70910795-GG-CA c.1052_1053delinsTG p.T351M Missense 10/16 - 1
2-70910802-C-A c.1046G>T p.G349V Missense 10/16 - 1
2-70910802-C-T c.1046G>A p.G349E Missense 10/16 - 2
2-70910803-C-T c.1045G>A p.G349R Missense 10/16 - 3
2-70910804-G-A c.1044C>T p.A348= Synonymous 10/16 - 6
2-70910804-G-C c.1044C>G p.A348= Synonymous 10/16 - 2
2-70910804-G-T c.1044C>A p.A348= Synonymous 10/16 - 2
2-70910808-C-T c.1040G>A p.W347* Nonsense 10/16 - 1
2-70910815-C-T c.1033G>A p.V345M Missense 10/16 - 1
2-70910816-G-A c.1032C>T p.S344= Synonymous 10/16 - 3
2-70910816-G-C c.1032C>G p.S344= Synonymous 10/16 - 2
2-70910816-G-T c.1032C>A p.S344= Synonymous 10/16 - 3
2-70910817-G-A c.1031C>T p.S344F Missense 10/16 - 1
2-70910821-C-T c.1027G>A p.G343S Missense 10/16 - 3
2-70910822-C-T c.1026G>A p.V342= Synonymous 10/16 - 1
2-70910831-G-A c.1017C>T p.P339= Synonymous 10/16 - 2
2-70910835-C-A c.1013G>T p.R338L Missense 10/16 - 1
2-70910835-C-T c.1013G>A p.R338Q Missense 10/16 - 1
2-70910836-G-A c.1012C>T p.R338W Missense 10/16 - 3
2-70910840-C-A c.1008G>T p.K336N Missense 10/16 - 1
2-70910840-C-G c.1008G>C p.K336N Missense 10/16 - 1
2-70910841-T-C c.1007A>G p.K336R Missense 10/16 - 1
2-70910843-C-A c.1005G>T p.E335D Missense 10/16 - 4
2-70910843-C-G c.1005G>C p.E335D Missense 10/16 - 1
2-70910842-TCTC-T c.1003_1005del p.E335del InFrameDeletion 10/16 - 1
2-70910845-C-A c.1003G>T p.E335* Nonsense 10/16 - 1
2-70910851-C-T c.997G>A p.E333K Missense 10/16 - 2
2-70910855-G-A c.993C>T p.L331= Synonymous 10/16 - 2
2-70910857-G-A c.991C>T p.L331F Missense 10/16 - 1
2-70910857-G-T c.991C>A p.L331I Missense 10/16 - 3
2-70910860-T-A c.988A>T p.I330F Missense 10/16 - 1
2-70910869-C-A c.979G>T p.E327* Nonsense 10/16 - 2
2-70910878-C-G c.970G>C p.G324R Missense 10/16 - 2
2-70910878-C-T c.970G>A p.G324R Missense 10/16 - 2
2-70910879-G-A c.969C>T p.A323= Synonymous 10/16 - 1
2-70910879-G-C c.969C>G p.A323= Synonymous 10/16 - 1
2-70910879-G-T c.969C>A p.A323= Synonymous 10/16 - 1
2-70910886-G-T c.962C>A p.S321Y Missense 10/16 - 1
2-70910895-G-A c.953C>T p.S318L Missense 10/16 - 2
2-70910896-A-C c.952T>G p.S318A Missense 10/16 - 2
2-70910897-C-A c.951G>T p.V317= Synonymous 10/16 - 1
2-70910897-CAC-GAT c.949_951delinsATC p.V317I Missense 10/16 - 1
2-70910897-C-G c.951G>C p.V317= Synonymous 10/16 - 1
2-70910897-C-T c.951G>A p.V317= Synonymous 10/16 - 2
2-70912868-G-A c.949-1969C>T - IntronicSNV - 9/15 1
2-70914688-C-A c.948+468G>T - IntronicSNV - 9/15 1
2-70914892-C-A c.948+264G>T - IntronicSNV - 9/15 1
2-70915045-T-C c.948+111A>G - IntronicSNV - 9/15 4
2-70915134-C-G c.948+22G>C - IntronicSNV - 9/15 5
2-70915158-G-A c.946C>T p.Q316* Nonsense 9/16 - 1
2-70915164-C-G c.940G>C p.E314Q Missense 9/16 - 1
2-70915170-C-G c.934G>C p.A312P Missense 9/16 - 1
2-70915172-G-A c.932C>T p.A311V Missense 9/16 - 1
2-70915174-C-A c.930G>T p.Q310H Missense 9/16 - 1
2-70915174-C-G c.930G>C p.Q310H Missense 9/16 - 1
2-70915176-G-A c.928C>T p.Q310* Nonsense 9/16 - 1
2-70915177-C-A c.927G>T p.L309= Synonymous 9/16 - 1
2-70915177-C-G c.927G>C p.L309= Synonymous 9/16 - 1
2-70915177-C-T c.927G>A p.L309= Synonymous 9/16 - 1
2-70915179-G-A c.925C>T p.L309= Synonymous 9/16 - 1
2-70915182-G-A c.922C>T p.H308Y Missense 9/16 - 1
2-70915194-A-T c.910T>A p.Y304N Missense 9/16 - 1
2-70915210-C-A c.894G>T p.T298= Synonymous 9/16 - 1
2-70915215-C-G c.889G>C p.D297H Missense 9/16 - 1
2-70915216-AC-CT c.887_888delinsAG p.G296E Missense 9/16 - 1
2-70915216-A-T c.888T>A p.G296= Synonymous 9/16 - 1
2-70915218-C-A c.886G>T p.G296C Missense 9/16 - 1
2-70915232-C-A c.872G>T p.G291V Missense 9/16 - 1
2-70915232-C-T c.872G>A p.G291E Missense 9/16 - 3
2-70915236-G-A c.868C>T p.H290Y Missense 9/16 - 1
2-70915236-G-T c.868C>A p.H290N Missense 9/16 - 1
2-70915244-A-G c.860T>C p.L287P Missense 9/16 - 1
2-70915246-C-A c.858G>T p.V286= Synonymous 9/16 - 1
2-70915249-C-A c.855G>T p.L285= Synonymous 9/16 - 2
2-70915249-C-G c.855G>C p.L285= Synonymous 9/16 - 2
2-70915249-C-T c.855G>A p.L285= Synonymous 9/16 - 2
2-70915251-G-A c.853C>T p.L285= Synonymous 9/16 - 2
2-70915251-G-C c.853C>G p.L285V Missense 9/16 - 1
2-70915254-T-C c.850A>G p.I284V Missense 9/16 - 1
2-70915320-T-A c.850-66A>T - IntronicSNV - 8/15 3
2-70915323-C-T c.850-69G>A - IntronicSNV - 8/15 4
2-70915347-C-T c.850-93G>A - IntronicSNV - 8/15 4
2-70917420-G-A c.849+498C>T - IntronicSNV - 8/15 1
2-70917644-A-T c.849+274T>A - IntronicSNV - 8/15 1
2-70917768-C-T c.849+150G>A - IntronicSNV - 8/15 2
2-70917803-CT-C c.849+114del - IntronicDeletion - 8/15 1
2-70917812-C-T c.849+106G>A - IntronicSNV - 8/15 5
2-70917811-TC-T c.849+106del - IntronicDeletion - 8/15 1
2-70917828-C-T c.849+90G>A - IntronicSNV - 8/15 1
2-70917842-G-A c.849+76C>T - IntronicSNV - 8/15 1
2-70917909-CTA-C c.849+8_849+9del - IntronicDeletion - 8/15 1
2-70917914-T-C c.849+4A>G - IntronicSNV - 8/15 1
2-70917918-C-A c.849G>T p.K283N Missense 8/16 - 1
2-70917918-C-G c.849G>C p.K283N Missense 8/16 - 1
2-70917918-C-T c.849G>A p.K283= Synonymous 8/16 - 3
2-70917922-C-T c.845G>A p.C282Y Missense 8/16 - 1
2-70917928-G-A c.839C>T p.P280L Missense 8/16 - 3
2-70917929-G-A c.838C>T p.P280S Missense 8/16 - 1
2-70917929-G-GTTAAAGTT c.837_838insAACTTTAA p.P280Nfs*11 Frameshift 8/16 - 1
2-70917932-C-T c.835G>A p.G279R Missense 8/16 - 2
2-70917935-G-C c.832C>G p.L278V Missense 8/16 - 1
2-70917942-C-A c.825G>T p.Q275H Missense 8/16 - 4
2-70917942-C-G c.825G>C p.Q275H Missense 8/16 - 4
2-70917944-G-T c.823C>A p.Q275K Missense 8/16 - 1
2-70917948-G-T c.819C>A p.N273K Missense 8/16 - 1
2-70917950-T-C c.817A>G p.N273D Missense 8/16 - 2
2-70917951-G-A c.816C>T p.I272= Synonymous 8/16 - 3
2-70917952-A-C c.815T>G p.I272S Missense 8/16 - 1
2-70917954-C-T c.813G>A p.R271= Synonymous 8/16 - 1
2-70917955-C-T c.812G>A p.R271Q Missense 8/16 - 2
2-70917956-G-A c.811C>T p.R271W Missense 8/16 - 3
2-70917956-G-T c.811C>A p.R271= Synonymous 8/16 - 1
2-70917959-C-T c.808G>A p.D270N Missense 8/16 - 1
2-70917960-G-A c.807C>T p.A269= Synonymous 8/16 - 3
2-70917960-G-C c.807C>G p.A269= Synonymous 8/16 - 1
2-70917960-G-T c.807C>A p.A269= Synonymous 8/16 - 1
2-70917961-G-A c.806C>T p.A269V Missense 8/16 - 1
2-70917963-T-A c.804A>T p.E268D Missense 8/16 - 2
2-70917963-T-G c.804A>C p.E268D Missense 8/16 - 3
2-70917969-C-A c.798G>T p.E266D Missense 8/16 - 1
2-70917971-C-T c.796G>A p.E266K Missense 8/16 - 2
2-70917972-C-A c.795G>T p.M265I Missense 8/16 - 1
2-70917972-C-G c.795G>C p.M265I Missense 8/16 - 1
2-70917972-C-T c.795G>A p.M265I Missense 8/16 - 5
2-70917976-T-A c.791A>T p.E264V Missense 8/16 - 1
2-70917977-C-T c.790G>A p.E264K Missense 8/16 - 2
2-70917979-C-T c.788G>A p.G263E Missense 8/16 - 1
2-70917980-C-T c.787G>A p.G263R Missense 8/16 - 1
2-70917982-T-C c.785A>G p.N262S Missense 8/16 - 1
2-70917985-A-G c.782T>C p.F261S Missense 8/16 - 1
2-70917988-T-C c.779A>G p.D260G Missense 8/16 - 1
2-70917997-G-A c.770C>T p.A257V Missense 8/16 - 1
2-70918003-T-C c.764A>G p.D255G Missense 8/16 - 3
2-70918004-C-A c.763G>T p.D255Y Missense 8/16 - 1
2-70918005-CCC-GCT c.760_762delinsAGC p.G254S Missense 8/16 - 1
2-70918007-C-G c.760G>C p.G254R Missense 8/16 - 2
2-70918007-C-T c.760G>A p.G254R Missense 8/16 - 2
2-70918009-A-T c.758T>A p.V253E Missense 8/16 - 1
2-70918027-G-A c.740C>T p.S247F Missense 8/16 - 3
2-70918035-C-A c.732G>T p.L244= Synonymous 8/16 - 1
2-70918035-C-G c.732G>C p.L244= Synonymous 8/16 - 1
2-70918035-C-T c.732G>A p.L244= Synonymous 8/16 - 1
2-70918037-G-A c.730C>T p.L244= Synonymous 8/16 - 1
2-70918037-G-T c.730C>A p.L244M Missense 8/16 - 1
2-70918038-G-A c.729C>T p.L243= Synonymous 8/16 - 1
2-70918039-GA-G c.728del p.L243Pfs*45 Frameshift 8/16 - 1
2-70918041-G-A c.726C>T p.G242= Synonymous 8/16 - 1
2-70918041-G-C c.726C>G p.G242= Synonymous 8/16 - 1
2-70918041-G-T c.726C>A p.G242= Synonymous 8/16 - 1
2-70918042-C-T c.725G>A p.G242D Missense 8/16 - 2
2-70918043-C-G c.724G>C p.G242R Missense 8/16 - 1
2-70918047-C-A c.720G>T p.K240N Missense 8/16 - 1
2-70918050-C-A c.717G>T p.M239I Missense 8/16 - 2
2-70918050-C-G c.717G>C p.M239I Missense 8/16 - 2
2-70918050-C-T c.717G>A p.M239I Missense 8/16 - 6
2-70918051-A-G c.716T>C p.M239T Missense 8/16 - 1
2-70918057-G-A c.710C>T p.S237L Missense 8/16 - 3
2-70918983-C-T c.705+552G>A - IntronicSNV - 7/15 1
2-70919345-A-G c.705+190T>C - IntronicSNV - 7/15 2
2-70919493-C-T c.705+42G>A - IntronicSNV - 7/15 1
2-70919535-C-A c.705G>T p.A235= Synonymous 7/16 - 2
2-70919535-C-G c.705G>C p.A235= Synonymous 7/16 - 2
2-70919535-C-T c.705G>A p.A235= Synonymous 7/16 - 5
2-70919536-G-A c.704C>T p.A235V Missense 7/16 - 1
2-70919536-G-T c.704C>A p.A235E Missense 7/16 - 1
2-70919538-T-A c.702A>T p.A234= Synonymous 7/16 - 1
2-70919538-T-C c.702A>G p.A234= Synonymous 7/16 - 1
2-70919538-T-G c.702A>C p.A234= Synonymous 7/16 - 1
2-70919544-G-A c.696C>T p.A232= Synonymous 7/16 - 1
2-70919544-G-C c.696C>G p.A232= Synonymous 7/16 - 1
2-70919544-G-T c.696C>A p.A232= Synonymous 7/16 - 1
2-70919547-C-T c.693G>A p.P231= Synonymous 7/16 - 1
2-70919548-G-A c.692C>T p.P231L Missense 7/16 - 6
2-70919553-GTG-AAGTAC c.685_687delinsGTACTT p.H229delinsVL MultiAAMissense 7/16 - 1
2-70919554-T-C c.686A>G p.H229R Missense 7/16 - 1
2-70919558-G-T c.682C>A p.L228M Missense 7/16 - 1
2-70919559-G-A c.681C>T p.H227= Synonymous 7/16 - 1
2-70919561-G-T c.679C>A p.H227N Missense 7/16 - 1
2-70919564-T-C c.676A>G p.I226V Missense 7/16 - 1
2-70919565-G-A c.675C>T p.I225= Synonymous 7/16 - 2
2-70919571-GCG-TCA c.667_669delinsTGA p.R223* Nonsense 7/16 - 1
2-70919572-C-A c.668G>T p.R223L Missense 7/16 - 1
2-70919573-G-A c.667C>T p.R223C Missense 7/16 - 9
2-70919574-C-G c.666G>C p.V222= Synonymous 7/16 - 1
2-70919576-C-T c.664G>A p.V222M Missense 7/16 - 2
2-70919581-G-T c.659C>A p.P220H Missense 7/16 - 1
2-70919585-T-TG c.654_655insC p.R219Qfs*42 Frameshift 7/16 - 1
2-70919586-C-A c.654G>T p.A218= Synonymous 7/16 - 2
2-70919586-C-G c.654G>C p.A218= Synonymous 7/16 - 2
2-70919586-C-T c.654G>A p.A218= Synonymous 7/16 - 4
2-70919587-G-A c.653C>T p.A218V Missense 7/16 - 7
2-70919589-T-C c.651A>G p.A217= Synonymous 7/16 - 1
2-70919592-A-G c.648T>C p.Y216= Synonymous 7/16 - 1
2-70919598-G-T c.642C>A p.A214= Synonymous 7/16 - 1
2-70919600-C-T c.640G>A p.A214T Missense 7/16 - 2
2-70919601-C-A c.639G>T p.S213= Synonymous 7/16 - 1
2-70919621-T-A c.619A>T p.T207S Missense 7/16 - 1
2-70919638-C-A c.602G>T p.C201F Missense 7/16 - 1
2-70919643-G-C c.597C>G p.S199R Missense 7/16 - 1
2-70919643-G-T c.597C>A p.S199R Missense 7/16 - 1
2-70919645-T-G c.595A>C p.S199R Missense 7/16 - 1
2-70919647-C-G c.593G>C p.G198A Missense 7/16 - 1
2-70919648-C-T c.592G>A p.G198S Missense 7/16 - 1
2-70919654-C-G c.586G>C p.E196Q Missense 7/16 - 1
2-70919654-C-T c.586G>A p.E196K Missense 7/16 - 1
2-70919655-C-CA c.584dup p.E196Gfs*65 Frameshift 7/16 - 1
2-70919657-C-T c.583G>A p.V195M Missense 7/16 - 1
2-70919661-C-A c.579G>T p.E193D Missense 7/16 - 2
2-70919661-C-G c.579G>C p.E193D Missense 7/16 - 1
2-70919663-C-G c.577G>C p.E193Q Missense 7/16 - 1
2-70919667-C-T c.573G>A p.L191= Synonymous 7/16 - 2
2-70919676-C-T c.564G>A p.V188= Synonymous 7/16 - 1
2-70919678-C-T c.562G>A p.V188M Missense 7/16 - 1
2-70919681-T-A c.559A>T p.K187* Nonsense 7/16 - 2
2-70919682-G-A c.558C>T p.I186= Synonymous 7/16 - 2
2-70919682-G-T c.558C>A p.I186= Synonymous 7/16 - 2
2-70919874-G-GA c.556-191dup - IntronicInsertion - 6/15 1
2-70919875-A-AG c.556-192_556-191insC - IntronicInsertion - 6/15 1
2-70920181-C-T c.556-497G>A - IntronicSNV - 6/15 1
2-70920663-C-T c.556-979G>A - IntronicSNV - 6/15 1
2-70921539-C-T c.555+1314G>A - IntronicSNV - 6/15 1
2-70922853-C-A c.555G>T p.L185= Synonymous 6/16 - 2
2-70922853-C-G c.555G>C p.L185= Synonymous 6/16 - 2
2-70922853-C-T c.555G>A p.L185= Synonymous 6/16 - 2
2-70922855-G-A c.553C>T p.L185= Synonymous 6/16 - 2
2-70922859-G-A c.549C>T p.S183= Synonymous 6/16 - 1
2-70922862-C-A c.546G>T p.A182= Synonymous 6/16 - 1
2-70922862-C-G c.546G>C p.A182= Synonymous 6/16 - 2
2-70922862-C-T c.546G>A p.A182= Synonymous 6/16 - 3
2-70922863-G-A c.545C>T p.A182V Missense 6/16 - 2
2-70922870-C-T c.538G>A p.V180I Missense 6/16 - 1
2-70922871-T-A c.537A>T p.E179D Missense 6/16 - 1
2-70922882-A-C c.526T>G p.S176A Missense 6/16 - 1
2-70922887-C-T c.521G>A p.G174E Missense 6/16 - 2
2-70922888-C-G c.520G>C p.G174R Missense 6/16 - 3
2-70922888-C-T c.520G>A p.G174R Missense 6/16 - 7
2-70922889-C-A c.519G>T p.K173N Missense 6/16 - 1
2-70922889-C-G c.519G>C p.K173N Missense 6/16 - 1
2-70922897-T-A c.511A>T p.S171C Missense 6/16 - 1
2-70922898-G-A c.510C>T p.I170= Synonymous 6/16 - 3
2-70922899-A-G c.509T>C p.I170T Missense 6/16 - 1
2-70922900-T-G c.508A>C p.I170L Missense 6/16 - 1
2-70922903-G-A c.505C>T p.L169= Synonymous 6/16 - 1
2-70922909-G-A c.499C>T p.H167Y Missense 6/16 - 1
2-70922911-T-A c.497A>T p.D166V Missense 6/16 - 1
2-70922911-T-C c.497A>G p.D166G Missense 6/16 - 1
2-70922912-C-T c.496G>A p.D166N Missense 6/16 - 1
2-70922922-G-A c.486C>T p.S162= Synonymous 6/16 - 1
2-70922923-C-T c.485G>A p.S162N Missense 6/16 - 1
2-70922925-GAC-CAT c.481_483delinsATG p.V161M Missense 6/16 - 1
2-70922931-C-A c.477G>T p.L159F Missense 6/16 - 2
2-70922931-C-G c.477G>C p.L159F Missense 6/16 - 1
2-70922932-A-C c.476T>G p.L159W Missense 6/16 - 1
2-70922962-C-T c.475-29G>A - IntronicSNV - 5/15 1
2-70923290-T-C c.474+87A>G - IntronicSNV - 5/15 1
2-70923305-T-C c.474+72A>G - IntronicSNV - 5/15 1
2-70923378-G-A c.473C>T p.T158M Missense 5/16 - 2
2-70923380-GAC-CAT c.469_471delinsATG p.V157M Missense 5/16 - 1
2-70923391-C-T c.460G>A p.D154N Missense 5/16 - 1
2-70923395-C-A c.456G>T p.L152= Synonymous 5/16 - 1
2-70923395-C-G c.456G>C p.L152= Synonymous 5/16 - 1
2-70923395-C-T c.456G>A p.L152= Synonymous 5/16 - 1
2-70923397-G-A c.454C>T p.L152= Synonymous 5/16 - 1
2-70923399-T-A c.452A>T p.Q151L Missense 5/16 - 1
2-70923403-C-T c.448G>A p.A150T Missense 5/16 - 1
2-70923404-C-A c.447G>T p.W149C Missense 5/16 - 1
2-70923404-C-G c.447G>C p.W149C Missense 5/16 - 1
2-70923413-G-A c.438C>T p.L146= Synonymous 5/16 - 1
2-70923419-C-A c.432G>T p.L144= Synonymous 5/16 - 1
2-70923419-C-G c.432G>C p.L144= Synonymous 5/16 - 1
2-70923419-C-T c.432G>A p.L144= Synonymous 5/16 - 1
2-70923421-G-A c.430C>T p.L144= Synonymous 5/16 - 2
2-70923432-A-T c.419T>A p.V140D Missense 5/16 - 3
2-70923443-C-G c.408G>C p.K136N Missense 5/16 - 1
2-70923447-CA-GT c.403_404delinsAC p.C135T Missense 5/16 - 1
2-70923448-A-G c.403T>C p.C135R Missense 5/16 - 7
2-70923450-C-T c.401G>A p.R134Q Missense 5/16 - 1
2-70923451-G-A c.400C>T p.R134W Missense 5/16 - 1
2-70923453-CAT-C c.397_398del p.M133Afs*21 Frameshift 5/16 - 1
2-70923459-C-T c.392G>A p.R131Q Missense 5/16 - 3
2-70923463-C-T c.388G>A p.E130K Missense 5/16 - 5
2-70923464-C-T c.387G>A p.G129= Synonymous 5/16 - 3
2-70923465-C-T c.386G>A p.G129E Missense 5/16 - 4
2-70923471-G-A c.380C>T p.A127V Missense 5/16 - 1
2-70923472-C-T c.379G>A p.A127T Missense 5/16 - 1
2-70923474-A-T c.377T>A p.L126Q Missense 5/16 - 1
2-70923476-G-A c.375C>T p.N125= Synonymous 5/16 - 3
2-70923479-C-G c.372G>C p.L124= Synonymous 5/16 - 2
2-70923482-G-A c.369C>T p.S123= Synonymous 5/16 - 3
2-70923483-G-A c.368C>T p.S123F Missense 5/16 - 1
2-70923483-GA-AG c.367_368delinsCT p.S123L Missense 5/16 - 1
2-70923485-G-T c.366C>A p.D122E Missense 5/16 - 1
2-70923490-C-A c.361G>T p.A121S Missense 5/16 - 1
2-70923495-T-C c.356A>G p.H119R Missense 5/16 - 1
2-70923501-T-A c.350A>T p.D117V Missense 5/16 - 1
2-70923506-G-A c.345C>T p.I115= Synonymous 5/16 - 3
2-70923506-G-T c.345C>A p.I115= Synonymous 5/16 - 1
2-70923510-G-A c.341C>T p.P114L Missense 5/16 - 1
2-70923512-C-A c.339G>T p.T113= Synonymous 5/16 - 1
2-70923514-T-G c.337A>C p.T113P Missense 5/16 - 1
2-70923515-C-T c.336G>A p.M112I Missense 5/16 - 2
2-70923517-T-C c.334A>G p.M112V Missense 5/16 - 1
2-70923524-G-A c.327C>T p.V109= Synonymous 5/16 - 1
2-70923854-A-G c.323-326T>C - IntronicSNV - 4/15 1
2-70931339-G-A c.322+114C>T - IntronicSNV - 4/15 2
2-70931400-A-C c.322+53T>G - IntronicSNV - 4/15 1
2-70931405-A-C c.322+48T>G - IntronicSNV - 4/15 2
2-70931409-T-C c.322+44A>G - IntronicSNV - 4/15 2
2-70931414-T-C c.322+39A>G - IntronicSNV - 4/15 1
2-70931417-A-C c.322+36T>G - IntronicSNV - 4/15 1
2-70931420-T-C c.322+33A>G - IntronicSNV - 4/15 1
2-70931458-G-A c.317C>T p.S106F Missense 4/16 - 1
2-70931461-G-A c.314C>T p.S105F Missense 4/16 - 3
2-70931467-G-A c.308C>T p.P103L Missense 4/16 - 1
2-70931467-G-T c.308C>A p.P103Q Missense 4/16 - 1
2-70931469-G-A c.306C>T p.F102= Synonymous 4/16 - 5
2-70931480-G-A c.295C>T p.H99Y Missense 4/16 - 1
2-70931480-G-T c.295C>A p.H99N Missense 4/16 - 1
2-70931482-G-A c.293C>T p.S98F Missense 4/16 - 1
2-70931482-G-C c.293C>G p.S98C Missense 4/16 - 4
2-70931484-G-C c.291C>G p.T97= Synonymous 4/16 - 1
2-70931486-T-A c.289A>T p.T97S Missense 4/16 - 1
2-70931491-G-T c.284C>A p.A95D Missense 4/16 - 1
2-70931501-C-A c.274G>T p.D92Y Missense 4/16 - 1
2-70931501-C-T c.274G>A p.D92N Missense 4/16 - 1
2-70931502-C-A c.273G>T p.A91= Synonymous 4/16 - 1
2-70931502-C-G c.273G>C p.A91= Synonymous 4/16 - 1
2-70931502-C-T c.273G>A p.A91= Synonymous 4/16 - 2
2-70931504-C-T c.271G>A p.A91T Missense 4/16 - 3
2-70931505-G-T c.270C>A p.I90= Synonymous 4/16 - 1
2-70931508-C-T c.267G>A p.Q89= Synonymous 4/16 - 2
2-70931510-G-A c.265C>T p.Q89* Nonsense 4/16 - 1
2-70931513-G-A c.262C>T p.R88* Nonsense 4/16 - 6
2-70931518-GC-CA c.256_257delinsTG p.A86C Missense 4/16 - 1
2-70931523-G-A c.252C>T p.I84= Synonymous 4/16 - 1
2-70931523-G-T c.252C>A p.I84= Synonymous 4/16 - 1
2-70931525-T-C c.250A>G p.I84V Missense 4/16 - 1
2-70931530-G-C c.245C>G p.S82C Missense 4/16 - 1
2-70931531-A-C c.244T>G p.S82A Missense 4/16 - 2
2-70931537-T-TATTTTTTGATGCTTGTGTTTTAAAC c.237_238insGTTTAAAACACAAGCATCAAAAAAT p.N80Vfs*2 Frameshift 4/16 - 1
2-70931538-G-T c.237C>A p.N79K Missense 4/16 - 1
2-70931542-C-T c.233G>A p.G78E Missense 4/16 - 2
2-70931543-C-T c.232G>A p.G78R Missense 4/16 - 3
2-70931544-C-A c.231G>T p.K77N Missense 4/16 - 1
2-70931544-C-G c.231G>C p.K77N Missense 4/16 - 1
2-70931545-T-C c.230A>G p.K77R Missense 4/16 - 1
2-70931547-C-A c.228G>T p.K76N Missense 4/16 - 1
2-70931547-C-G c.228G>C p.K76N Missense 4/16 - 1
2-70931550-C-A c.225G>T p.M75I Missense 4/16 - 1
2-70931550-C-G c.225G>C p.M75I Missense 4/16 - 1
2-70931550-C-T c.225G>A p.M75I Missense 4/16 - 1
2-70931553-C-A c.222G>T p.Q74H Missense 4/16 - 3
2-70931553-C-G c.222G>C p.Q74H Missense 4/16 - 3
2-70931555-G-T c.220C>A p.Q74K Missense 4/16 - 1
2-70931556-C-T c.219G>A p.E73= Synonymous 4/16 - 1
2-70931558-C-A c.217G>T p.E73* Nonsense 4/16 - 1
2-70931564-T-G c.211A>C p.I71L Missense 4/16 - 1
2-70931567-G-A c.208C>T p.L70F Missense 4/16 - 1
2-70931569-C-A c.206G>T p.G69V Missense 4/16 - 1
2-70931572-T-A c.203A>T p.E68V Missense 4/16 - 1
2-70931573-C-G c.202G>C p.E68Q Missense 4/16 - 1
2-70931573-C-T c.202G>A p.E68K Missense 4/16 - 3
2-70931578-T-A c.197A>T p.E66V Missense 4/16 - 1
2-70931579-C-A c.196G>T p.E66* Nonsense 4/16 - 1
2-70931579-C-T c.196G>A p.E66K Missense 4/16 - 1
2-70931581-T-C c.194A>G p.E65G Missense 4/16 - 1
2-70931582-C-G c.193G>C p.E65Q Missense 4/16 - 1
2-70931582-C-T c.193G>A p.E65K Missense 4/16 - 6
2-70931583-C-T c.192G>A p.R64= Synonymous 4/16 - 2
2-70933038-A-G c.183+320T>C - IntronicSNV - 3/15 1
2-70933337-G-A c.183+21C>T - IntronicSNV - 3/15 1
2-70933357-C-T c.183+1G>A - IntronicSNV - 3/15 1
2-70933359-G-A c.182C>T p.P61L Missense 3/16 - 1
2-70933367-C-A c.174G>T p.L58= Synonymous 3/16 - 1
2-70933367-C-G c.174G>C p.L58= Synonymous 3/16 - 1
2-70933367-C-T c.174G>A p.L58= Synonymous 3/16 - 1
2-70933369-G-A c.172C>T p.L58= Synonymous 3/16 - 1
2-70933370-G-A c.171C>T p.I57= Synonymous 3/16 - 1
2-70933373-C-T c.168G>A p.M56I Missense 3/16 - 1
2-70933377-G-T c.164C>A p.T55N Missense 3/16 - 1
2-70933379-G-T c.162C>A p.V54= Synonymous 3/16 - 1
2-70933382-G-A c.159C>T p.R53= Synonymous 3/16 - 4
2-70933382-G-C c.159C>G p.R53= Synonymous 3/16 - 1
2-70933382-GC-TT c.158_159delinsAA p.R53Q Missense 3/16 - 1
2-70933382-G-T c.159C>A p.R53= Synonymous 3/16 - 1
2-70933383-C-A c.158G>T p.R53L Missense 3/16 - 1
2-70933383-C-T c.158G>A p.R53H Missense 3/16 - 2
2-70933385-CT-C c.155del p.K52Sfs*5 Frameshift 3/16 - 1
2-70933387-T-TA c.153_154insT p.K52* Nonsense 3/16 - 1
2-70933395-T-C c.146A>G p.E49G Missense 3/16 - 1
2-70933398-A-T c.143T>A p.M48K Missense 3/16 - 1
2-70933406-G-A c.135C>T p.F45= Synonymous 3/16 - 2
2-70933409-G-A c.132C>T p.D44= Synonymous 3/16 - 1
2-70933409-G-C c.132C>G p.D44E Missense 3/16 - 1
2-70933411-C-T c.130G>A p.D44N Missense 3/16 - 2
2-70933412-C-T c.129G>A p.Q43= Synonymous 3/16 - 1
2-70933416-C-T c.125G>A p.R42Q Missense 3/16 - 2
2-70933421-G-C c.120C>G p.D40E Missense 3/16 - 1
2-70933421-G-T c.120C>A p.D40E Missense 3/16 - 1
2-70933424-C-T c.117G>A p.A39= Synonymous 3/16 - 2
2-70933425-G-A c.116C>T p.A39V Missense 3/16 - 3
2-70933425-G-T c.116C>A p.A39E Missense 3/16 - 2
2-70933427-C-A c.114G>T p.A38= Synonymous 3/16 - 2
2-70933427-C-G c.114G>C p.A38= Synonymous 3/16 - 1
2-70933427-C-T c.114G>A p.A38= Synonymous 3/16 - 1
2-70933428-G-A c.113C>T p.A38V Missense 3/16 - 1
2-70933431-C-A c.110G>T p.R37L Missense 3/16 - 2
2-70933431-C-T c.110G>A p.R37Q Missense 3/16 - 3
2-70933436-GCG-TCA c.103_105delinsTGA p.R35* Nonsense 3/16 - 1
2-70933437-C-A c.104G>T p.R35L Missense 3/16 - 1
2-70933437-C-T c.104G>A p.R35H Missense 3/16 - 2
2-70933442-G-A c.99C>T p.R33= Synonymous 3/16 - 1
2-70933442-G-C c.99C>G p.R33= Synonymous 3/16 - 1
2-70933442-G-T c.99C>A p.R33= Synonymous 3/16 - 1
2-70933443-C-T c.98G>A p.R33H Missense 3/16 - 2
2-70933444-G-A c.97C>T p.R33C Missense 3/16 - 1
2-70933447-T-G c.94A>C p.M32L Missense 3/16 - 1
2-70933449-T-C c.92A>G p.Y31C Missense 3/16 - 1
2-70933452-T-A c.89A>T p.E30V Missense 3/16 - 1
2-70933453-C-T c.88G>A p.E30K Missense 3/16 - 1
2-70933456-G-A c.85C>T p.P29S Missense 3/16 - 1
2-70933456-G-C c.85C>G p.P29A Missense 3/16 - 1
2-70933457-G-A c.84C>T p.D28= Synonymous 3/16 - 1
2-70933458-T-C c.83A>G p.D28G Missense 3/16 - 1
2-70933459-C-T c.82G>A p.D28N Missense 3/16 - 5
2-70933460-G-A c.81C>T p.D27= Synonymous 3/16 - 1
2-70933465-C-T c.76G>A p.E26K Missense 3/16 - 1
2-70933477-C-T c.64G>A p.D22N Missense 3/16 - 4
2-70933488-T-C c.53A>G p.Q18R Missense 3/16 - 2
2-70933488-T-TG c.52dup p.Q18Pfs*5 Frameshift 3/16 - 1
2-70933491-C-T c.50G>A p.G17E Missense 3/16 - 4
2-70933492-C-T c.49G>A p.G17R Missense 3/16 - 2
2-70933493-C-T c.48G>A p.Q16= Synonymous 3/16 - 1
2-70933496-C-A c.45G>T p.P15= Synonymous 3/16 - 2
2-70933496-C-G c.45G>C p.P15= Synonymous 3/16 - 2
2-70933496-C-T c.45G>A p.P15= Synonymous 3/16 - 3
2-70933497-G-A c.44C>T p.P15L Missense 3/16 - 1
2-70933498-G-A c.43C>T p.P15S Missense 3/16 - 4
2-70933500-G-A c.41C>T p.P14L Missense 3/16 - 1
2-70933502-C-A c.39G>T p.P13= Synonymous 3/16 - 1
2-70933502-C-G c.39G>C p.P13= Synonymous 3/16 - 1
2-70933502-C-T c.39G>A p.P13= Synonymous 3/16 - 1
2-70933503-G-A c.38C>T p.P13L Missense 3/16 - 2
2-70933505-C-A c.36G>T p.P12= Synonymous 3/16 - 1
2-70933505-C-G c.36G>C p.P12= Synonymous 3/16 - 2
2-70933505-C-T c.36G>A p.P12= Synonymous 3/16 - 2
2-70933506-G-A c.35C>T p.P12L Missense 3/16 - 1
2-70933507-G-A c.34C>T p.P12S Missense 3/16 - 2
2-70933508-C-A c.33G>T p.S11= Synonymous 3/16 - 2
2-70933508-C-G c.33G>C p.S11= Synonymous 3/16 - 2
2-70933508-C-T c.33G>A p.S11= Synonymous 3/16 - 4
2-70933509-G-A c.32C>T p.S11L Missense 3/16 - 1
2-70933511-GGC-CAT c.28_30delinsATG p.A10M Missense 3/16 - 1
2-70933511-G-T c.30C>A p.A10= Synonymous 3/16 - 1
2-70933512-G-C c.29C>G p.A10G Missense 3/16 - 2
2-70933512-GC-TA c.28_29delinsTA p.A10Y Missense 3/16 - 3
2-70933515-G-A c.26C>T p.A9V Missense 3/16 - 1
2-70933516-C-T c.25G>A p.A9T Missense 3/16 - 1
2-70933519-C-T c.22G>A p.E8K Missense 3/16 - 2
2-70933522-G-A c.19C>T p.P7S Missense 3/16 - 2
2-70933522-G-T c.19C>A p.P7T Missense 3/16 - 1
2-70933526-C-A c.15G>T p.T5= Synonymous 3/16 - 1
2-70933526-C-G c.15G>C p.T5= Synonymous 3/16 - 1
2-70933526-C-T c.15G>A p.T5= Synonymous 3/16 - 1
2-70933527-G-A c.14C>T p.T5M Missense 3/16 - 5
2-70933528-T-C c.13A>G p.T5A Missense 3/16 - 2
2-70933534-C-T c.7G>A p.E3K Missense 3/16 - 10
2-70933535-G-A c.6C>T p.S2= Synonymous 3/16 - 2
2-70933537-T-G c.4A>C p.S2R Missense 3/16 - 1
2-70933538-TC-T c.3del p.M1? CdsStartDeletion 3/16 - 1
2-70933562-C-T c.-22G>A - 5-UTRSNV 3/16 - 1
2-70933636-T-C c.-34-62A>G - IntronicSNV - 2/15 3
2-70933659-T-A c.-34-85A>T - IntronicSNV - 2/15 2
2-70933659-T-C c.-34-85A>G - IntronicSNV - 2/15 2
2-70933659-T-G c.-34-85A>C - IntronicSNV - 2/15 2
2-70933902-C-A c.-362G>T - IntronicSNV 1/16 - 1
2-70933902-C-T c.-362G>A - IntronicSNV 1/16 - 1
2-70933909-G-A c.-369C>T - IntronicSNV 1/16 - 7
2-70934741-G-C c.-34-1167C>G - IntronicSNV - 2/15 3
2-70935227-A-C c.-34-1653T>G - IntronicSNV - 2/15 2
2-70935227-A-T c.-34-1653T>A - IntronicSNV - 2/15 2
2-70936321-A-T c.-34-2747T>A - IntronicSNV - 2/15 1
2-70936861-T-C c.-34-3287A>G - IntronicSNV - 2/15 2
2-70944016-A-G c.-153-3700T>C - IntronicSNV - 1/15 1
2-70937479-A-G c.-35+2719T>C - intron_variant - 2/15 1
2-70939831-G-A c.-153-6138C>T - IntronicSNV - 1/15 1
2-70943418-A-G c.-153-3102T>C - intron_variant - 1/15 1
2-70943629-C-T c.-153-3313G>A - intron_variant - 1/15 1
2-70943850-A-C c.-153-3534T>G - intron_variant - 1/15 4
2-70949793-A-C c.-153-9477T>G - intron_variant - 1/15 1
2-70951065-C-T c.-153-10749G>A - intron_variant - 1/15 1
2-70958166-C-T c.-153-17850G>A - intron_variant - 1/15 1
2-70958885-C-T c.-153-18569G>A - intron_variant - 1/15 1
2-70963751-G-A c.-153-23435C>T - intron_variant - 1/15 2
2-70972296-T-C c.-154+22722A>G - intron_variant - 1/15 1
2-70974890-G-T c.-154+20128C>A - intron_variant - 1/15 6
2-70979073-G-C c.-154+15945C>G - intron_variant - 1/15 1
2-70979073-G-T c.-154+15945C>A - intron_variant - 1/15 1
2-70980156-A-C c.-154+14862T>G - intron_variant - 1/15 1
2-70981453-C-T c.-154+13565G>A - intron_variant - 1/15 1
2-70983105-C-T c.-154+11913G>A - intron_variant - 1/15 1
2-70985213-G-A c.-154+9805C>T - intron_variant - 1/15 1
2-70987635-A-G c.-154+7383T>C - intron_variant - 1/15 1
2-70988374-A-G c.-154+6644T>C - intron_variant - 1/15 1
2-70988374-A-T c.-154+6644T>A - intron_variant - 1/15 1
2-70995129-G-A c.-265C>T - 5_prime_UTR_variant 1/16 - 6
2-70995129-G-T c.-265C>A - 5_prime_UTR_variant 1/16 - 6
2-70995217-A-C c.-353T>G - 5_prime_UTR_variant 1/16 - 7
2-70995217-A-T c.-353T>A - 5_prime_UTR_variant 1/16 - 7