F8 coagulation factor VIII

Canonical transcript: NM_000132

759 unique variant annotations were identified in 246 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
X-154064200-C-T c.*1672G>A - 3-UTRSNV 26/26 - 2
X-154064200-C-A c.*1672G>T - 3-UTRSNV 26/26 - 2
X-154064344-G-T c.*1528C>A - 3-UTRSNV 26/26 - 1
X-154064397-G-A c.*1475C>T - 3-UTRSNV 26/26 - 1
X-154064397-G-C c.*1475C>G - 3-UTRSNV 26/26 - 1
X-154064493-T-C c.*1379A>G - 3-UTRSNV 26/26 - 1
X-154064580-T-C c.*1292A>G - 3-UTRSNV 26/26 - 1
X-154064658-C-T c.*1214G>A - 3-UTRSNV 26/26 - 1
X-154064687-G-A c.*1185C>T - 3-UTRSNV 26/26 - 1
X-154065843-G-A c.*29C>T - 3-UTRSNV 26/26 - 3
X-154065934-A-T c.6994T>A p.Trp2332Arg Missense 26/26 - 1
X-154065934-A-G c.6994T>C p.Trp2332Arg Missense 26/26 - 1
X-154065942-G-C c.6986C>G p.Pro2329Arg Missense 26/26 - 1
X-154065942-G-A c.6986C>T p.Pro2329Leu Missense 26/26 - 1
X-154065946-G-C c.6982C>G p.His2328Asp Missense 26/26 - 1
X-154065951-C-A c.6977G>T p.Arg2326Leu Missense 26/26 - 3
X-154065951-C-T c.6977G>A p.Arg2326Gln Missense 26/26 - 1
X-154065952-G-A c.6976C>T p.Arg2326* Nonsense 26/26 - 1
X-154065961-G-A c.6967C>T p.Arg2323Cys Missense 26/26 - 1
X-154065972-G-A c.6956C>T p.Pro2319Leu Missense 26/26 - 2
X-154065977-G-C c.6951C>G p.Asp2317Glu Missense 26/26 - 1
X-154065999-G-A c.6929C>T p.Thr2310Ile Missense 26/26 - 1
X-154066017-C-T c.6911G>A p.Gly2304Glu Missense 26/26 - 2
X-154066470-C-T c.6901-443G>A - IntronicSNV - 25/25 2
X-154084216-G-A c.6900+4491C>T - IntronicSNV - 25/25 1
X-154087368-T-A c.6900+1339A>T - IntronicSNV - 25/25 3
X-154088735-G-A c.6872C>T p.Thr2291Ile Missense 25/26 - 1
X-154088736-T-C c.6871A>G p.Thr2291Ala Missense 25/26 - 1
X-154088750-T-A c.6857A>T p.Asp2286Val Missense 25/26 - 1
X-154088754-G-A c.6853C>T p.Gln2285* Nonsense 25/26 - 1
X-154088793-T-C c.6814A>G p.Thr2272Ala Missense 25/26 - 2
X-154088838-T-C c.6769A>G p.Met2257Val Missense 25/26 - 3
X-154088841-T-A c.6766A>T p.Thr2256Ser Missense 25/26 - 1
X-154088855-A-G c.6752T>C p.Val2251Ala Missense 25/26 - 1
X-154088863-C-G c.6744G>C p.Trp2248Cys Missense 25/26 - 4
X-154088863-C-A c.6744G>T p.Trp2248Cys Missense 25/26 - 4
X-154088864-C-T c.6743G>A p.Trp2248* Nonsense 25/26 - 1
X-154088883-C-T c.6724G>A p.Val2242Met Missense 25/26 - 2
X-154089800-C-T c.6723+193G>A - IntronicSNV - 24/25 1
X-154089992-C-A c.6723+1G>T - IntronicSNV - 24/25 1
X-154090033-C-T c.6683G>A p.Arg2228Gln Missense 24/26 - 3
X-154090034-G-A c.6682C>T p.Arg2228* Nonsense 24/26 - 3
X-154090074-G-A c.6642C>T p.Tyr2214Tyr Synonymous 24/26 - 1
X-154090084-G-A c.6632C>T p.Ala2211Val Missense 24/26 - 1
X-154090093-T-C c.6623A>G p.Gln2208Arg Missense 24/26 - 1
X-154090093-T-G c.6623A>C p.Gln2208Pro Missense 24/26 - 1
X-154090094-G-A c.6622C>T p.Gln2208* Nonsense 24/26 - 1
X-154090094-G-C c.6622C>G p.Gln2208Glu Missense 24/26 - 1
X-154090101-CT-C c.6615del p.Asp2206Metfs*37 Frameshift 24/26 - 1
X-154090102-G-T c.6614C>A p.Ser2205* Nonsense 24/26 - 1
X-154090102-TGAT-T c.6613_6615del p.Ser2205del InFrameDeletion 24/26 - 1
X-154090119-C-A c.6597G>T p.Met2199Ile Missense 24/26 - 3
X-154090119-C-G c.6597G>C p.Met2199Ile Missense 24/26 - 3
X-154090119-CAT-TTT c.6596_6597delinsAA p.Met2199Lys Missense 24/26 - 1
X-154090119-CA-AC c.6596_6597delinsGT p.Met2199Ser Missense 24/26 - 1
X-154090119-CAT-TGT c.6596_6597delinsCA p.Met2199Thr Missense 24/26 - 1
X-154090119-CAT-TAT c.6597delinsA p.Met2199Ile Missense 24/26 - 1
X-154090119-C-T c.6597G>A p.Met2199Ile Missense 24/26 - 3
X-154090119-CAT-GAC c.6595_6597delinsGTC p.Met2199Val Missense 24/26 - 1
X-154090119-CA-GC c.6596_6597delinsGC p.Met2199Ser Missense 24/26 - 1
X-154090120-AT-GC c.6595_6596delinsGC p.Met2199Ala Missense 24/26 - 5
X-154090120-AT-GG c.6595_6596delinsCC p.Met2199Pro Missense 24/26 - 1
X-154090120-AT-TG c.6595_6596delinsCA p.Met2199Gln Missense 24/26 - 1
X-154090120-AT-GA c.6595_6596delinsTC p.Met2199Ser Missense 24/26 - 1
X-154090120-A-G c.6596T>C p.Met2199Thr Missense 24/26 - 1
X-154090120-A-T c.6596T>A p.Met2199Lys Missense 24/26 - 1
X-154090120-AT-CA c.6595_6596delinsTG p.Met2199Trp Missense 24/26 - 1
X-154090120-A-C c.6596T>G p.Met2199Arg Missense 24/26 - 1
X-154090120-AT-CC c.6595_6596delinsGG p.Met2199Gly Missense 24/26 - 1
X-154090121-T-G c.6595A>C p.Met2199Leu Missense 24/26 - 2
X-154090121-T-A c.6595A>T p.Met2199Leu Missense 24/26 - 2
X-154090121-T-C c.6595A>G p.Met2199Val Missense 24/26 - 1
X-154090126-A-C c.6590T>G p.Leu2197Trp Missense 24/26 - 1
X-154090133-T-G c.6583A>C p.Met2195Leu Missense 24/26 - 1
X-154090133-T-A c.6583A>T p.Met2195Leu Missense 24/26 - 1
X-154090138-CA-GC c.6577_6578delinsGC p.Cys2193Ala Missense 24/26 - 1
X-154091385-T-C c.6547A>G p.Met2183Val Missense 23/26 - 1
X-154091387-C-T c.6545G>A p.Arg2182His Missense 23/26 - 2
X-154091388-G-A c.6544C>T p.Arg2182Cys Missense 23/26 - 1
X-154091399-C-T c.6533G>A p.Arg2178His Missense 23/26 - 1
X-154091400-G-A c.6532C>T p.Arg2178Cys Missense 23/26 - 4
X-154091426-C-T c.6506G>A p.Arg2169His Missense 23/26 - 5
X-154091427-G-A c.6505C>T p.Arg2169Cys Missense 23/26 - 2
X-154091431-G-T c.6501C>A p.Tyr2167* Nonsense 23/26 - 1
X-154091436-G-A c.6496C>T p.Arg2166* Nonsense 23/26 - 1
X-154091452-GG-G c.6482del p.Pro2161Leufs*25 Frameshift 23/26 - 1
X-154091469-TTT-T c.6464_6465del p.Lys2155Thrfs*5 Frameshift 23/26 - 1
X-154091484-C-T c.6448G>A p.Asp2150Asn Missense 23/26 - 1
X-154091495-A-G c.6437T>C p.Phe2146Ser Missense 23/26 - 1
X-154091505-G-C c.6430-3C>G - IntronicSNV - 22/25 1
X-154092179-G-A c.6430-677C>T - IntronicSNV - 22/25 1
X-154092364-G-A c.6430-862C>T - IntronicSNV - 22/25 1
X-154105928-C-A c.6430-14426G>T - IntronicSNV - 22/25 1
X-154109899-C-A c.6429+14453G>T - IntronicSNV - 22/25 1
X-154110093-C-T c.6429+14259G>A - IntronicSNV - 22/25 1
X-154110158-A-G c.6429+14194T>C - IntronicSNV - 22/25 1
X-154124350-A-T c.6429+2T>A - IntronicSNV - 22/25 1
X-154124351-C-T c.6429+1G>A - IntronicSNV - 22/25 1
X-154124378-G-A c.6403C>T p.Arg2135* Nonsense 22/26 - 2
X-154124407-C-G c.6374G>C p.Ser2125Thr Missense 22/26 - 1
X-154124410-T-C c.6371A>G p.Tyr2124Cys Missense 22/26 - 2
X-154124426-TG-T c.6355del p.Gln2119Serfs*24 Frameshift 22/26 - 1
X-154124429-A-T c.6352T>A p.Ser2118Thr Missense 22/26 - 1
X-154124446-AA-GC c.6334_6335delinsGC p.Phe2112Ala Missense 22/26 - 1
X-154124449-TT-GC c.6331_6332delinsGC p.Lys2111Ala Missense 22/26 - 1
X-154124455-CG-GC c.6325_6326delinsGC p.Arg2109Ala Missense 22/26 - 1
X-154124464-T-G c.6317A>C p.Gln2106Pro Missense 22/26 - 1
X-154124477-C-T c.6304G>A p.Gly2102Ser Missense 22/26 - 1
X-154124485-A-T c.6296T>A p.Ile2099Asn Missense 22/26 - 1
X-154124503-T-C c.6278A>G p.Asp2093Gly Missense 22/26 - 3
X-154124504-C-G c.6277G>C p.Asp2093His Missense 22/26 - 1
X-154128140-C-A c.6273+1G>T - IntronicSNV - 21/25 1
X-154128141-C-T c.6273G>A p.Lys2091Lys Synonymous 21/26 - 1
X-154128142-T-G c.6272A>C p.Lys2091Thr Missense 21/26 - 1
X-154128169-C-G c.6245G>C p.Ser2082Thr Missense 21/26 - 1
X-154128171-C-G c.6243G>C p.Trp2081Cys Missense 21/26 - 1
X-154128172-C-G c.6242G>C p.Trp2081Ser Missense 21/26 - 1
X-154128176-C-T c.6238G>A p.Ala2080Thr Missense 21/26 - 1
X-154128188-C-A c.6226G>T p.Gly2076* Nonsense 21/26 - 1
X-154128199-A-T c.6215T>A p.Leu2072His Missense 21/26 - 1
X-154128221-A-G c.6193T>C p.Trp2065Arg Missense 21/26 - 1
X-154129715-A-G c.6118T>C p.Cys2040Arg Missense 20/26 - 1
X-154130223-A-G c.6115+103T>C - IntronicSNV - 19/25 1
X-154130328-T-C c.6113A>G p.Asn2038Ser Missense 19/26 - 2
X-154130337-A-G c.6104T>C p.Val2035Ala Missense 19/26 - 1
X-154130352-C-T c.6089G>A p.Ser2030Asn Missense 19/26 - 2
X-154130356-T-A c.6085A>T p.Met2029Leu Missense 19/26 - 1
X-154130375-G-C c.6066C>G p.Gly2022Gly Synonymous 19/26 - 1
X-154130384-G-A c.6057C>T p.Cys2019Cys Synonymous 19/26 - 1
X-154130388-T-C c.6053A>G p.Glu2018Gly Missense 19/26 - 2
X-154130394-CG-GC c.6046_6047delinsGC p.Arg2016Ala Missense 19/26 - 3
X-154130395-G-A c.6046C>T p.Arg2016Trp Missense 19/26 - 6
X-154130404-C-G c.6037G>C p.Gly2013Arg Missense 19/26 - 2
X-154130404-C-T c.6037G>A p.Gly2013Arg Missense 19/26 - 2
X-154130719-C-T c.5999-277G>A - IntronicSNV - 18/25 1
X-154131240-C-T c.5999-798G>A - IntronicSNV - 18/25 2
X-154132090-A-T c.5998+91T>A - IntronicSNV - 18/25 2
X-154132183-G-C c.5996C>G p.Pro1999Arg Missense 18/26 - 1
X-154132186-T-G c.5993A>C p.Tyr1998Ser Missense 18/26 - 1
X-154132215-CCTC-C c.5965_5967del p.Glu1989del InFrameDeletion 18/26 - 1
X-154132224-T-TT c.5961dup p.Glu1988Argfs*4 Frameshift 18/26 - 1
X-154132225-C-T c.5954G>A p.Arg1985Gln Missense 18/26 - 2
X-154132226-G-A c.5953C>T p.Arg1985* Nonsense 18/26 - 2
X-154132238-C-T c.5941G>A p.Val1981Met Missense 18/26 - 1
X-154132258-G-T c.5921C>A p.Ser1974Tyr Missense 18/26 - 1
X-154132261-T-A c.5918A>T p.His1973Leu Missense 18/26 - 1
X-154132267-T-G c.5912A>C p.Asn1971Thr Missense 18/26 - 1
X-154132278-G-C c.5901C>G p.Gly1967Gly Synonymous 18/26 - 1
X-154132279-C-T c.5900G>A p.Gly1967Asp Missense 18/26 - 1
X-154132293-GATACCA-G c.5881_5886del p.Trp1961_Tyr1962del InFrameDeletion 18/26 - 1
X-154132293-GATA-G c.5884_5886del p.Tyr1962del InFrameDeletion 18/26 - 1
X-154132297-C-T c.5882G>A p.Trp1961* Nonsense 18/26 - 1
X-154132300-C-T c.5879G>A p.Arg1960Gln Missense 18/26 - 6
X-154132300-C-A c.5879G>T p.Arg1960Leu Missense 18/26 - 1
X-154132301-G-A c.5878C>T p.Arg1960* Nonsense 18/26 - 2
X-154132301-G-T c.5878C>A p.Arg1960Arg Synonymous 18/26 - 1
X-154132351-GTAG-G c.5827_5829del p.Tyr1943del InFrameDeletion 18/26 - 1
X-154132357-T-C c.5822A>G p.Asn1941Ser Missense 18/26 - 3
X-154132581-A-T c.5805T>A p.Tyr1935* Nonsense 17/26 - 1
X-154132620-G-C c.5766C>G p.Cys1922Trp Missense 17/26 - 1
X-154132621-C-G c.5765G>C p.Cys1922Ser Missense 17/26 - 1
X-154132661-A-G c.5725T>C p.Tyr1909His Missense 17/26 - 1
X-154132662-C-T c.5724G>A p.Trp1908* Nonsense 17/26 - 1
X-154132676-C-T c.5710G>A p.Glu1904Lys Missense 17/26 - 1
X-154132681-A-C c.5705T>G p.Phe1902Cys Missense 17/26 - 1
X-154132683-G-T c.5703C>A p.Ile1901Ile Synonymous 17/26 - 1
X-154132683-G-A c.5703C>T p.Ile1901Ile Synonymous 17/26 - 1
X-154132698-GAG-G c.5689_5690del p.Leu1897Valfs*6 Frameshift 17/26 - 1
X-154132720-T-C c.5666A>G p.Gln1889Arg Missense 17/26 - 1
X-154132768-G-C c.5618C>G p.Pro1873Arg Missense 17/26 - 1
X-154132768-G-A c.5618C>T p.Pro1873Leu Missense 17/26 - 1
X-154132777-A-G c.5609T>C p.Leu1870Pro Missense 17/26 - 1
X-154132786-T-C c.5600A>G p.His1867Arg Missense 17/26 - 1
X-154132892-G-A c.5587-93C>T - IntronicSNV - 16/25 1
X-154133084-A-C c.5586+2T>G - IntronicSNV - 16/25 1
X-154133099-G-C c.5573C>G p.Ser1858Cys Missense 16/26 - 1
X-154133106-A-G c.5566T>C p.Tyr1856His Missense 16/26 - 1
X-154133110-C-T c.5562G>A p.Trp1854* Nonsense 16/26 - 1
X-154133111-C-T c.5561G>A p.Trp1854* Nonsense 16/26 - 1
X-154133112-A-G c.5560T>C p.Trp1854Arg Missense 16/26 - 1
X-154133114-G-A c.5558C>T p.Ala1853Val Missense 16/26 - 1
X-154133129-T-A c.5543A>T p.Glu1848Val Missense 16/26 - 1
X-154133139-T-G c.5533A>C p.Thr1845Pro Missense 16/26 - 1
X-154133142-G-A c.5530C>T p.Pro1844Ser Missense 16/26 - 1
X-154133146-C-T c.5526G>A p.Met1842Ile Missense 16/26 - 1
X-154133151-TGATGTTGCACTTTC-T c.5508_5521del p.Trp1836* Frameshift 16/26 - 1
X-154133152-GATG-G c.5521_5523del p.His1841del InFrameDeletion 16/26 - 1
X-154133193-T-A c.5479A>T p.Lys1827* Nonsense 16/26 - 1
X-154133201-T-G c.5471A>C p.Asn1824Thr Missense 16/26 - 1
X-154133259-A-T c.5413T>A p.Tyr1805Asn Missense 16/26 - 1
X-154133261-GAAG-G c.5411_5413del p.Phe1804del InFrameDeletion 16/26 - 1
X-154133264-G-T c.5408C>A p.Ser1803Tyr Missense 16/26 - 1
X-154133273-C-T c.5399G>A p.Arg1800His Missense 16/26 - 2
X-154133274-G-A c.5398C>T p.Arg1800Cys Missense 16/26 - 2
X-154133277-A-G c.5395T>C p.Ser1799Pro Missense 16/26 - 1
X-154133279-G-A c.5393C>T p.Ala1798Val Missense 16/26 - 1
X-154133280-C-T c.5392G>A p.Ala1798Thr Missense 16/26 - 1
X-154133280-C-A c.5392G>T p.Ala1798Ser Missense 16/26 - 1
X-154133291-A-T c.5381T>A p.Phe1794Tyr Missense 16/26 - 1
X-154133294-G-T c.5378C>A p.Thr1793Asn Missense 16/26 - 1
X-154134394-A-G c.5373+301T>C - IntronicSNV - 15/25 1
X-154134696-A-G c.5372T>C p.Met1791Thr Missense 15/26 - 1
X-154134698-TGAT-T c.5370_5372del p.Ile1790del SpliceDonorDeletion 15/26 - 1
X-154134714-T-A c.5354A>T p.Glu1785Val Missense 15/26 - 1
X-154134720-C-G c.5348G>C p.Arg1783Thr Missense 15/26 - 1
X-154134721-T-C c.5347A>G p.Arg1783Gly Missense 15/26 - 1
X-154134766-G-A c.5302C>T p.Arg1768Cys Missense 15/26 - 1
X-154134775-G-T c.5293C>A p.Pro1765Thr Missense 15/26 - 1
X-154134776-C-T c.5292G>A p.Gln1764Gln Synonymous 15/26 - 1
X-154134782-A-T c.5286T>A p.Phe1762Leu Missense 15/26 - 1
X-154134784-A-G c.5284T>C p.Phe1762Leu Missense 15/26 - 1
X-154134790-C-G c.5278G>C p.Gly1760Arg Missense 15/26 - 1
X-154134793-C-T c.5275G>A p.Asp1759Asn Missense 15/26 - 1
X-154134814-C-G c.5254G>C p.Val1752Leu Missense 15/26 - 1
X-154134821-G-C c.5247C>G p.Phe1749Leu Missense 15/26 - 1
X-154146678-T-TT c.5219+10174dup - IntronicInsertion - 14/25 1
X-154147781-T-C c.5219+9065A>G - IntronicSNV - 14/25 1
X-154149448-T-C c.5219+7398A>G - IntronicSNV - 14/25 1
X-154156845-C-T c.5219+1G>A - IntronicSNV - 14/25 1
X-154156865-G-A c.5200C>T p.Pro1734Ser Missense 14/26 - 1
X-154156877-T-C c.5188A>G p.Met1730Val Missense 14/26 - 1
X-154156885-T-A c.5180A>T p.Asp1727Val Missense 14/26 - 1
X-154156906-G-A c.5159C>T p.Ala1720Val Missense 14/26 - 1
X-154156922-G-A c.5143C>T p.Arg1715* Nonsense 14/26 - 2
X-154156943-G-A c.5122C>T p.Arg1708Cys Missense 14/26 - 1
X-154156969-T-A c.5096A>T p.Tyr1699Phe Missense 14/26 - 1
X-154156996-T-C c.5069A>G p.Glu1690Gly Missense 14/26 - 1
X-154157002-G-A c.5063C>T p.Ser1688Leu Missense 14/26 - 1
X-154157012-C-CGT c.5052_5053insAC p.Asp1685Thrfs*8 Frameshift 14/26 - 1
X-154157086-G-A c.4979C>T p.Pro1660Leu Missense 14/26 - 1
X-154157118-TAC-T c.4946_4947del p.Gly1649Glufs*3 Frameshift 14/26 - 1
X-154157123-G-A c.4942C>T p.Gln1648* Nonsense 14/26 - 1
X-154157140-T-C c.4925A>G p.Glu1642Gly Missense 14/26 - 1
X-154157140-TT-T c.4926del p.Val1643Serfs*20 Frameshift 14/26 - 1
X-154157237-C-A c.4828G>T p.Ala1610Ser Missense 14/26 - 1
X-154157268-C-T c.4797G>A p.Trp1599* Nonsense 14/26 - 1
X-154157271-C-A c.4794G>T p.Glu1598Asp Missense 14/26 - 2
X-154157326-A-G c.4739T>C p.Leu1580Pro Missense 14/26 - 1
X-154157386-G-C c.4679C>G p.Pro1560Arg Missense 14/26 - 1
X-154157534-C-T c.4531G>A p.Val1511Ile Missense 14/26 - 1
X-154157623-A-G c.4442T>C p.Leu1481Pro Missense 14/26 - 1
X-154157632-A-C c.4433T>G p.Val1478Gly Missense 14/26 - 1
X-154157678-GAAAG-G c.4388_4391del p.Ser1463* Frameshift 14/26 - 1
X-154157680-A-G c.4385T>C p.Leu1462Pro Missense 14/26 - 1
X-154157685-TA-T c.4380del p.Asn1460Lysfs*5 Frameshift 14/26 - 2
X-154157685-A-T c.4380T>A p.Asn1460Lys Missense 14/26 - 1
X-154157686-T-A c.4379A>T p.Asn1460Ile Missense 14/26 - 1
X-154157693-TT-T c.4379del p.Asn1460Ilefs*5 Frameshift 14/26 - 1
X-154157729-CC-C c.4339del p.Val1447Serfs*18 Frameshift 14/26 - 1
X-154157756-C-T c.4309G>A p.Ala1437Thr Missense 14/26 - 1
X-154157757-T-TT c.4308dup p.Ala1437Serfs*5 Frameshift 14/26 - 1
X-154157824-G-C c.4241C>G p.Ser1414* Nonsense 14/26 - 1
X-154157824-G-T c.4241C>A p.Ser1414* Nonsense 14/26 - 1
X-154157824-TG-T c.4241del p.Ser1414Tyrfs*10 Frameshift 14/26 - 1
X-154157909-G-A c.4156C>T p.Gln1386* Nonsense 14/26 - 1
X-154157919-C-A c.4146G>T p.Gly1382Gly Synonymous 14/26 - 1
X-154157951-T-C c.4114A>G p.Thr1372Ala Missense 14/26 - 1
X-154157989-C-T c.4076G>A p.Trp1359* Nonsense 14/26 - 1
X-154158059-G-A c.4006C>T p.Gln1336* Nonsense 14/26 - 1
X-154158074-TT-T c.3992del p.Lys1331Argfs*4 Frameshift 14/26 - 1
X-154158120-CCT-TGT c.3944_3945delinsCA p.Arg1315Thr Missense 14/26 - 1
X-154158201-T-C c.3864A>G p.Ser1288Ser Synonymous 14/26 - 2
X-154158201-T-G c.3864A>C p.Ser1288Ser Synonymous 14/26 - 3
X-154158201-T-A c.3864A>T p.Ser1288Ser Synonymous 14/26 - 2
X-154158284-C-T c.3781G>A p.Gly1261Arg Missense 14/26 - 1
X-154158285-G-T c.3780C>A p.Asp1260Glu Missense 14/26 - 7
X-154158285-G-A c.3780C>T p.Asp1260Asp Synonymous 14/26 - 6
X-154158285-G-C c.3780C>G p.Asp1260Glu Missense 14/26 - 11
X-154158303-CA-C c.3762del p.Asn1254Lysfs*2 Frameshift 14/26 - 1
X-154158353-C-A c.3712G>T p.Gly1238Cys Missense 14/26 - 1
X-154158379-A-C c.3686T>G p.Val1229Gly Missense 14/26 - 1
X-154158397-TAAT-T c.3667_3669del p.Leu1223del InFrameDeletion 14/26 - 1
X-154158398-AA-A c.3668del p.Leu1223* Frameshift 14/26 - 1
X-154158425-TG-T c.3640del p.Gln1214Argfs*4 Frameshift 14/26 - 1
X-154158436-T-TT c.3637dup p.Ile1213Asnfs*28 Frameshift 14/26 - 3
X-154158436-TT-T c.3637del p.Ile1213Phefs*5 Frameshift 14/26 - 5
X-154158440-G-A c.3625C>T p.Gln1209* Nonsense 14/26 - 1
X-154158443-TT-T c.3623del p.Asn1208Ilefs*10 Frameshift 14/26 - 1
X-154158457-T-TT c.3611dup p.Asn1204Lysfs*2 Frameshift 14/26 - 1
X-154158508-AA-A c.3561del p.Pro1188Glnfs*30 Frameshift 14/26 - 1
X-154158527-C-T c.3538G>A p.Val1180Ile Missense 14/26 - 1
X-154158543-CACCCTTTCCTACTACCACTTTGTTTTTCTCAGACAAGAAATTCTGACCTTCCACAGATT-C c.3464_3522del p.Lys1155Argfs*23 InFrameDeletion 14/26 - 1
X-154158543-CA-C c.3522del p.Glu1175Asnfs*6 Frameshift 14/26 - 1
X-154158560-C-T c.3505G>A p.Val1169Met Missense 14/26 - 1
X-154158579-G-C c.3486C>G p.Phe1162Leu Missense 14/26 - 1
X-154158626-G-A c.3439C>T p.Gln1147* Nonsense 14/26 - 1
X-154158666-TT-T c.3401del p.Lys1134Argfs*4 Frameshift 14/26 - 1
X-154158679-T-C c.3386A>G p.Gln1129Arg Missense 14/26 - 1
X-154158679-TT-T c.3388del p.Arg1130Glyfs*8 Frameshift 14/26 - 1
X-154158689-T-A c.3376A>T p.Arg1126Trp Missense 14/26 - 1
X-154158723-C-T c.3342G>A p.Ser1114Ser Synonymous 14/26 - 1
X-154158724-G-T c.3341C>A p.Ser1114* Nonsense 14/26 - 1
X-154158740-G-A c.3325C>T p.Gln1109* Nonsense 14/26 - 2
X-154158786-C-T c.3279G>A p.Met1093Ile Missense 14/26 - 1
X-154158802-G-A c.3263C>T p.Thr1088Ile Missense 14/26 - 1
X-154158869-G-A c.3196C>T p.His1066Tyr Missense 14/26 - 2
X-154158879-GT-G c.3186del p.Pro1063Leufs*2 Frameshift 14/26 - 1
X-154158884-AC-A c.3181del p.Val1061* Frameshift 14/26 - 1
X-154158885-T-G c.3180A>C p.Lys1060Asn Missense 14/26 - 1
X-154158885-T-A c.3180A>T p.Lys1060Asn Missense 14/26 - 1
X-154158896-C-T c.3169G>A p.Glu1057Lys Missense 14/26 - 3
X-154158898-AG-A c.3167del p.Thr1056Metfs*6 Frameshift 14/26 - 1
X-154158921-C-T c.3144G>A p.Trp1048* Nonsense 14/26 - 2
X-154158931-TGGACTATTCTC-T c.3124_3134del p.Glu1042Ilefs*10 Frameshift 14/26 - 1
X-154158987-T-G c.3078A>C p.Ser1026Ser Synonymous 14/26 - 1
X-154158987-T-C c.3078A>G p.Ser1026Ser Synonymous 14/26 - 1
X-154158987-T-A c.3078A>T p.Ser1026Ser Synonymous 14/26 - 1
X-154159031-C-G c.3034G>C p.Val1012Leu Missense 14/26 - 1
X-154159119-A-C c.2946T>G p.Asn982Lys Missense 14/26 - 1
X-154159119-A-T c.2946T>A p.Asn982Lys Missense 14/26 - 1
X-154159132-G-GTTTA c.2932_2933insTAAA p.Ser978Leufs*14 Frameshift 14/26 - 1
X-154159144-C-A c.2921G>T p.Ser974Ile Missense 14/26 - 1
X-154159161-T-G c.2904A>C p.Glu968Asp Missense 14/26 - 1
X-154159161-T-A c.2904A>T p.Glu968Asp Missense 14/26 - 1
X-154159166-A-G c.2899T>C p.Leu967Leu Synonymous 14/26 - 1
X-154159225-G-C c.2840C>G p.Pro947Arg Missense 14/26 - 1
X-154159294-C-T c.2771G>A p.Gly924Glu Missense 14/26 - 1
X-154159300-GG-G c.2766del p.Leu923* Frameshift 14/26 - 1
X-154159351-AT-GC c.2713_2714delinsGC p.Ile905Ala Missense 14/26 - 1
X-154159369-AC-A c.2696del p.Ser899Ilefs*6 Frameshift 14/26 - 1
X-154159419-CCAG-C c.2644_2646del p.Leu882del InFrameDeletion 14/26 - 1
X-154159420-CA-C c.2645del p.Leu882Argfs*9 Frameshift 14/26 - 1
X-154159435-CT-CA c.2629delinsT p.Arg877* Missense 14/26 - 1
X-154159510-T-C c.2555A>G p.Glu852Gly Missense 14/26 - 1
X-154159530-G-T c.2535C>A p.Asp845Glu Missense 14/26 - 2
X-154159542-CA-C c.2523del p.Gly842Glufs*3 Frameshift 14/26 - 1
X-154159555-T-G c.2510A>C p.Asp837Ala Missense 14/26 - 1
X-154159587-A-C c.2478T>G p.Asp826Glu Missense 14/26 - 1
X-154159587-A-T c.2478T>A p.Asp826Glu Missense 14/26 - 1
X-154159604-C-T c.2461G>A p.Gly821Arg Missense 14/26 - 1
X-154159612-G-A c.2453C>T p.Thr818Ile Missense 14/26 - 1
X-154159615-AGG-A c.2449_2450del p.Pro817Tyrfs*9 Frameshift 14/26 - 1
X-154159625-G-A c.2440C>T p.Arg814* Nonsense 14/26 - 2
X-154159648-AG-A c.2417del p.Ser806Leufs*5 Frameshift 14/26 - 1
X-154159656-A-G c.2409T>C p.Asn803Asn Synonymous 14/26 - 1
X-154159661-G-A c.2404C>T p.Gln802* Nonsense 14/26 - 1
X-154159680-TCT-TGT c.2384delinsC p.Arg795Thr Missense 14/26 - 1
X-154159680-TCT-TGG c.2383_2384delinsCC p.Arg795Pro Missense 14/26 - 1
X-154159682-T-A c.2383A>T p.Arg795* Nonsense 14/26 - 4
X-154159682-T-C c.2383A>G p.Arg795Gly Missense 14/26 - 3
X-154159700-C-T c.2365G>A p.Asp789Asn Missense 14/26 - 1
X-154159720-TT-T c.2348del p.Asn783Metfs*3 Frameshift 14/26 - 1
X-154159721-C-G c.2344G>C p.Glu782Gln Missense 14/26 - 1
X-154159739-T-C c.2326A>G p.Asn776Asp Missense 14/26 - 1
X-154159756-G-C c.2309C>G p.Thr770Ser Missense 14/26 - 1
X-154159821-G-C c.2244C>G p.Tyr748* Nonsense 14/26 - 1
X-154159844-T-A c.2221A>T p.Ser741Cys Missense 14/26 - 1
X-154159850-C-G c.2215G>C p.Glu739Gln Missense 14/26 - 1
X-154159850-C-T c.2215G>A p.Glu739Lys Missense 14/26 - 1
X-154159855-T-C c.2210A>G p.Tyr737Cys Missense 14/26 - 1
X-154159874-C-T c.2191G>A p.Asp731Asn Missense 14/26 - 1
X-154159879-AC-A c.2186del p.Ser729Ilefs*22 Frameshift 14/26 - 1
X-154159886-C-T c.2179G>A p.Val727Ile Missense 14/26 - 1
X-154159898-C-T c.2167G>A p.Ala723Thr Missense 14/26 - 4
X-154159904-T-C c.2161A>G p.Met721Val Missense 14/26 - 1
X-154159906-C-A c.2159G>T p.Gly720Val Missense 14/26 - 1
X-154159907-C-T c.2158G>A p.Gly720Ser Missense 14/26 - 1
X-154159907-C-G c.2158G>C p.Gly720Arg Missense 14/26 - 1
X-154159908-CT-C c.2157del p.Gly720Alafs*2 Frameshift 14/26 - 1
X-154159916-G-A c.2149C>T p.Arg717Trp Missense 14/26 - 3
X-154159933-C-T c.2132G>A p.Cys711Tyr Missense 14/26 - 1
X-154159945-C-A c.2120G>T p.Trp707Leu Missense 14/26 - 1
X-154167288-G-A c.2114-7337C>T - IntronicSNV - 13/25 1
X-154172141-G-A c.2113+3832C>T - IntronicSNV - 13/25 1
X-154172868-A-C c.2113+3105T>G - IntronicSNV - 13/25 1
X-154173530-G-T c.2113+2443C>A - IntronicSNV - 13/25 3
X-154173530-G-A c.2113+2443C>T - IntronicSNV - 13/25 3
X-154173907-A-C c.2113+2066T>G - IntronicSNV - 13/25 1
X-154175512-AAAAAAAAAAAAAA-A c.2113+461_2113+473del - IntronicDeletion - 13/25 1
X-154175513-AAAAAAAAAAAAA-A c.2113+462_2113+473del - IntronicDeletion - 13/25 1
X-154175514-AAAAAAAAAAAA-A c.2113+463_2113+473del - IntronicDeletion - 13/25 1
X-154175784-C-T c.2113+189G>A - IntronicSNV - 13/25 1
X-154175971-A-G c.2113+2T>C - IntronicSNV - 13/25 1
X-154175983-C-G c.2103G>C p.Met701Ile Missense 13/26 - 1
X-154175983-C-A c.2103G>T p.Met701Ile Missense 13/26 - 1
X-154175983-C-T c.2103G>A p.Met701Ile Missense 13/26 - 1
X-154175984-CA-C c.2102del p.Met701Argfs*21 Frameshift 13/26 - 1
X-154175984-CATC-C c.2101_2103del p.Met701del InFrameDeletion 13/26 - 1
X-154175991-T-C c.2095A>G p.Met699Val Missense 13/26 - 1
X-154175993-A-G c.2093T>C p.Phe698Ser Missense 13/26 - 1
X-154175999-G-A c.2087C>T p.Thr696Ile Missense 13/26 - 1
X-154176035-T-A c.2051A>T p.Glu684Val Missense 13/26 - 1
X-154176084-G-A c.2002C>T p.Leu668Phe Missense 13/26 - 1
X-154176088-GTC-TGG c.1996_1998delinsCCA p.Asp666Pro Missense 13/26 - 1
X-154176088-GTC-ATG c.1996_1998delinsCAT p.Asp666His Missense 13/26 - 1
X-154176089-TC-TT c.1996delinsA p.Asp666Asn Missense 13/26 - 1
X-154176089-TC-TG c.1996delinsC p.Asp666His Missense 13/26 - 1
X-154176089-TC-AT c.1996_1997delinsAT p.Asp666Ile Missense 13/26 - 1
X-154176089-TC-AG c.1996_1997delinsCT p.Asp666Leu Missense 13/26 - 1
X-154176089-TC-CT c.1996_1997delinsAG p.Asp666Ser Missense 13/26 - 1
X-154176089-T-G c.1997A>C p.Asp666Ala Missense 13/26 - 2
X-154176089-T-C c.1997A>G p.Asp666Gly Missense 13/26 - 1
X-154176089-T-A c.1997A>T p.Asp666Val Missense 13/26 - 1
X-154176090-C-A c.1996G>T p.Asp666Tyr Missense 13/26 - 2
X-154176096-G-A c.1990C>T p.Gln664* Nonsense 13/26 - 1
X-154176121-G-C c.1965C>G p.Tyr655* Nonsense 13/26 - 1
X-154176129-C-T c.1957G>A p.Val653Met Missense 13/26 - 1
X-154176176-T-C c.1910A>G p.Asn637Ser Missense 13/26 - 1
X-154176176-T-A c.1910A>T p.Asn637Ile Missense 13/26 - 1
X-154176178-TG-T c.1908del p.Asn637Metfs*23 Frameshift 13/26 - 1
X-154180171-A-AA c.1903+2003dup - IntronicInsertion - 12/25 1
X-154182162-C-T c.1903+5G>A - IntronicSNV - 12/25 1
X-154182172-A-G c.1898T>C p.Met633Thr Missense 12/26 - 1
X-154182176-T-A c.1894A>T p.Ile632Phe Missense 12/26 - 1
X-154182178-T-C c.1892A>G p.Asn631Ser Missense 12/26 - 1
X-154182204-A-G c.1866T>C p.Leu622Leu Synonymous 12/26 - 1
X-154182236-G-A c.1834C>T p.Arg612Cys Missense 12/26 - 8
X-154182258-C-G c.1812G>C p.Trp604Cys Missense 12/26 - 2
X-154182258-C-A c.1812G>T p.Trp604Cys Missense 12/26 - 1
X-154182259-C-A c.1811G>T p.Trp604Leu Missense 12/26 - 1
X-154182260-A-G c.1810T>C p.Trp604Arg Missense 12/26 - 1
X-154182261-G-C c.1809C>G p.Ser603Arg Missense 12/26 - 1
X-154182262-C-A c.1808G>T p.Ser603Ile Missense 12/26 - 1
X-154182262-C-G c.1808G>C p.Ser603Thr Missense 12/26 - 1
X-154182263-T-A c.1807A>T p.Ser603Cys Missense 12/26 - 1
X-154182263-T-C c.1807A>G p.Ser603Gly Missense 12/26 - 1
X-154182266-G-C c.1804C>G p.Arg602Gly Missense 12/26 - 2
X-154182266-G-A c.1804C>T p.Arg602* Nonsense 12/26 - 1
X-154182267-G-C c.1803C>G p.Asn601Lys Missense 12/26 - 1
X-154182269-T-C c.1801A>G p.Asn601Asp Missense 12/26 - 1
X-154182269-T-G c.1801A>C p.Asn601His Missense 12/26 - 1
X-154182270-C-A c.1800G>T p.Glu600Asp Missense 12/26 - 1
X-154182270-CTC-AAC c.1799_1800delinsTT p.Glu600Val Missense 12/26 - 1
X-154182272-C-G c.1798G>C p.Glu600Gln Missense 12/26 - 1
X-154182272-C-T c.1798G>A p.Glu600Lys Missense 12/26 - 1
X-154182274-T-A c.1796A>T p.Asp599Val Missense 12/26 - 1
X-154182275-C-G c.1795G>C p.Asp599His Missense 12/26 - 1
X-154182280-A-AT c.1789_1790insA p.Val597Aspfs*3 Frameshift 12/26 - 1
X-154182286-A-G c.1784T>C p.Phe595Ser Missense 12/26 - 1
X-154182286-A-C c.1784T>G p.Phe595Cys Missense 12/26 - 1
X-154182313-A-T c.1757T>A p.Met586Lys Missense 12/26 - 1
X-154182316-A-G c.1754T>C p.Ile585Thr Missense 12/26 - 1
X-154182318-C-T c.1753-1G>A - IntronicSNV - 11/25 1
X-154182952-C-T c.1753-635G>A - IntronicSNV - 11/25 1
X-154183372-C-T c.1753-1055G>A - IntronicSNV - 11/25 1
X-154185239-C-A c.1745G>T p.Gly582Val Missense 11/26 - 1
X-154185261-T-A c.1723A>T p.Lys575* Nonsense 11/26 - 1
X-154185274-G-A c.1710C>T p.Leu570Leu Synonymous 11/26 - 1
X-154185278-G-A c.1706C>T p.Pro569Leu Missense 11/26 - 1
X-154185278-G-C c.1706C>G p.Pro569Arg Missense 11/26 - 1
X-154185288-G-A c.1696C>T p.Leu566Phe Missense 11/26 - 2
X-154185302-AT-A c.1682del p.Asp561Valfs*2 Frameshift 11/26 - 1
X-154185324-T-C c.1660A>G p.Ser554Gly Missense 11/26 - 1
X-154185327-A-AA c.1657dup p.Ser553Phefs*2 Frameshift 11/26 - 2
X-154185335-C-T c.1649G>A p.Arg550His Missense 11/26 - 1
X-154185336-G-A c.1648C>T p.Arg550Cys Missense 11/26 - 4
X-154185348-G-A c.1636C>T p.Arg546Trp Missense 11/26 - 1
X-154185369-C-G c.1615G>C p.Gly539Arg Missense 11/26 - 1
X-154185371-T-A c.1613A>T p.Asp538Val Missense 11/26 - 1
X-154185397-T-A c.1587A>T p.Lys529Asn Missense 11/26 - 1
X-154185397-T-G c.1587A>C p.Lys529Asn Missense 11/26 - 1
X-154185415-C-A c.1569G>T p.Leu523Leu Synonymous 11/26 - 2
X-154185428-T-A c.1556A>T p.Asp519Val Missense 11/26 - 8
X-154185428-T-G c.1556A>C p.Asp519Ala Missense 11/26 - 4
X-154185446-C-A c.1538G>T p.Gly513Val Missense 11/26 - 1
X-154185447-C-T c.1538-1G>A - IntronicSNV - 10/25 1
X-154185448-T-C c.1538-2A>G - IntronicSNV - 10/25 1
X-154185462-AA-A c.1538-13del - IntronicDeletion - 10/25 1
X-154185464-C-T c.1538-18G>A - IntronicSNV - 10/25 1
X-154189025-T-C c.1537+325A>G - IntronicSNV - 10/25 2
X-154189358-A-T c.1529T>A p.Leu510* Nonsense 10/26 - 1
X-154189361-CT-GC c.1525_1526delinsGC p.Arg509Ala Missense 10/26 - 1
X-154189377-G-A c.1510C>T p.Pro504Ser Missense 10/26 - 1
X-154189379-C-T c.1508G>A p.Arg503His Missense 10/26 - 2
X-154189379-CG-GC c.1507_1508delinsGC p.Arg503Ala Missense 10/26 - 1
X-154189380-G-C c.1507C>G p.Arg503Gly Missense 10/26 - 1
X-154189382-A-T c.1505T>A p.Val502Asp Missense 10/26 - 2
X-154189392-T-G c.1495A>C p.Ile499Leu Missense 10/26 - 1
X-154189395-C-T c.1492G>A p.Gly498Arg Missense 10/26 - 3
X-154189400-G-C c.1487C>G p.Pro496Arg Missense 10/26 - 1
X-154189412-T-C c.1475A>G p.Tyr492Cys Missense 10/26 - 2
X-154189417-T-A c.1470A>T p.Arg490Ser Missense 10/26 - 1
X-154189421-CT-GC c.1465_1466delinsGC p.Ser489Ala Missense 10/26 - 1
X-154189465-A-G c.1444-22T>C - IntronicSNV - 9/25 2
X-154193211-T-C c.1443+1034A>G - IntronicSNV - 9/25 4
X-154193643-T-C c.1443+602A>G - IntronicSNV - 9/25 1
X-154194243-A-G c.1443+2T>C - IntronicSNV - 9/25 1
X-154194245-C-T c.1443G>A p.Leu481Leu Synonymous 9/26 - 1
X-154194246-A-T c.1442T>A p.Leu481* Nonsense 9/26 - 1
X-154194249-AG-TC c.1438_1439delinsGA p.Leu480Glu Missense 9/26 - 1
X-154194259-C-T c.1429G>A p.Gly477Arg Missense 9/26 - 1
X-154194259-C-G c.1429G>C p.Gly477Arg Missense 9/26 - 1
X-154194267-C-A c.1421G>T p.Gly474Val Missense 9/26 - 1
X-154194270-T-C c.1418A>G p.Tyr473Cys Missense 9/26 - 1
X-154194291-C-G c.1397G>C p.Gly466Ala Missense 9/26 - 1
X-154194303-T-C c.1385A>G p.Gln462Arg Missense 9/26 - 1
X-154194308-TAGC-T c.1378_1380del p.Ala460del InFrameDeletion 9/26 - 1
X-154194308-TA-T c.1380del p.Ile461Phefs*21 Frameshift 9/26 - 1
X-154194315-C-T c.1373G>A p.Arg458His Missense 9/26 - 1
X-154194334-C-A c.1354G>T p.Asp452Tyr Missense 9/26 - 1
X-154194334-C-T c.1354G>A p.Asp452Asn Missense 9/26 - 1
X-154194340-A-T c.1348T>A p.Tyr450Asn Missense 9/26 - 1
X-154194342-G-C c.1346C>G p.Ala449Gly Missense 9/26 - 1
X-154194351-C-T c.1337G>A p.Arg446Gln Missense 9/26 - 2
X-154194352-G-A c.1336C>T p.Arg446* Nonsense 9/26 - 2
X-154194357-T-C c.1331A>G p.Lys444Arg Missense 9/26 - 1
X-154194357-T-A c.1331A>T p.Lys444Ile Missense 9/26 - 1
X-154194367-T-C c.1321A>G p.Lys441Glu Missense 9/26 - 1
X-154194373-C-T c.1315G>A p.Gly439Ser Missense 9/26 - 3
X-154194375-A-G c.1313T>C p.Ile438Thr Missense 9/26 - 1
X-154194378-C-G c.1310G>C p.Arg437Pro Missense 9/26 - 1
X-154194379-G-A c.1309C>T p.Arg437Trp Missense 9/26 - 1
X-154194386-G-A c.1302C>T p.Gly434Gly Synonymous 9/26 - 1
X-154194395-C-A c.1293G>T p.Leu431Phe Missense 9/26 - 1
X-154194396-A-G c.1292T>C p.Leu431Ser Missense 9/26 - 1
X-154194408-T-A c.1280A>T p.Lys427Ile Missense 9/26 - 1
X-154194421-A-G c.1272-5T>C - IntronicSNV - 8/25 1
X-154194708-C-G c.1264G>C p.Asp422His Missense 8/26 - 1
X-154194717-G-A c.1255C>T p.Leu419Phe Missense 8/26 - 2
X-154194720-C-CG c.1251_1252insC p.Val418Argfs*6 Frameshift 8/26 - 1
X-154194733-G-A c.1239C>T p.Asp413Asp Synonymous 8/26 - 1
X-154194738-A-T c.1234T>A p.Trp412Arg Missense 8/26 - 1
X-154194738-A-G c.1234T>C p.Trp412Arg Missense 8/26 - 1
X-154194740-T-G c.1232A>C p.Asp411Ala Missense 8/26 - 1
X-154194742-CTC-CAT c.1228_1229delinsAT p.Glu410Met Missense 8/26 - 1
X-154194746-T-C c.1226A>G p.Glu409Gly Missense 8/26 - 2
X-154194758-A-C c.1214T>G p.Ile405Ser Missense 8/26 - 1
X-154194758-A-G c.1214T>C p.Ile405Thr Missense 8/26 - 2
X-154194769-C-A c.1203G>T p.Trp401Cys Missense 8/26 - 1
X-154194785-T-A c.1187A>T p.Lys396Met Missense 8/26 - 1
X-154194786-T-A c.1186A>T p.Lys396* Nonsense 8/26 - 1
X-154194792-C-A c.1180G>T p.Ala394Ser Missense 8/26 - 1
X-154194797-G-T c.1175C>A p.Ser392* Nonsense 8/26 - 1
X-154194797-G-A c.1175C>T p.Ser392Leu Missense 8/26 - 1
X-154194798-A-G c.1174T>C p.Ser392Pro Missense 8/26 - 1
X-154194800-C-T c.1172G>A p.Arg391His Missense 8/26 - 1
X-154194801-G-A c.1171C>T p.Arg391Cys Missense 8/26 - 6
X-154194809-A-G c.1163T>C p.Ile388Thr Missense 8/26 - 1
X-154194833-T-C c.1139A>G p.Asp380Gly Missense 8/26 - 1
X-154194861-C-T c.1111G>A p.Asp371Asn Missense 8/26 - 1
X-154194869-TC-CG c.1102_1103delinsCG p.Asp368Arg Missense 8/26 - 2
X-154194878-T-C c.1094A>G p.Tyr365Cys Missense 8/26 - 3
X-154194886-C-T c.1086G>A p.Ala362Ala Synonymous 8/26 - 2
X-154194886-C-A c.1086G>T p.Ala362Ala Synonymous 8/26 - 1
X-154194886-C-G c.1086G>C p.Ala362Ala Synonymous 8/26 - 1
X-154194908-C-T c.1064G>A p.Arg355Gln Missense 8/26 - 1
X-154194910-T-TT c.1062dup p.Arg355Thrfs*5 Frameshift 8/26 - 1
X-154194952-CTT-C c.1019_1020del p.Glu340Glyfs*19 Frameshift 8/26 - 1
X-154194954-C-T c.1018G>A p.Glu340Lys Missense 8/26 - 2
X-154194956-A-C c.1016T>G p.Met339Arg Missense 8/26 - 1
X-154194989-C-T c.1010-27G>A - IntronicSNV - 7/25 4
X-154195327-T-C c.1010-365A>G - IntronicSNV - 7/25 1
X-154197608-T-G c.1007A>C p.His336Pro Missense 7/26 - 1
X-154197626-T-C c.989A>G p.His330Arg Missense 7/26 - 2
X-154197633-A-G c.982T>C p.Phe328Leu Missense 7/26 - 1
X-154197631-A-C c.984T>G p.Phe328Leu Missense 7/26 - 1
X-154197631-A-T c.984T>A p.Phe328Leu Missense 7/26 - 1
X-154197645-G-T c.970C>A p.Gln324Lys Missense 7/26 - 1
X-154197648-C-T c.967G>A p.Gly323Arg Missense 7/26 - 1
X-154197654-C-A c.961G>T p.Asp321Tyr Missense 7/26 - 1
X-154197666-GTTTG-G c.948_951del p.Gln316Hisfs*3 Frameshift 7/26 - 1
X-154197678-G-A c.937C>T p.Leu313Phe Missense 7/26 - 1
X-154197683-G-A c.932C>T p.Thr311Ile Missense 7/26 - 1
X-154197692-G-A c.923C>T p.Ser308Leu Missense 7/26 - 4
X-154197702-A-C c.913T>G p.Leu305Val Missense 7/26 - 1
X-154197707-G-A c.908C>T p.Ala303Val Missense 7/26 - 1
X-154197714-G-A c.901C>T p.Arg301Cys Missense 7/26 - 1
X-154197732-A-G c.883T>C p.Phe295Leu Missense 7/26 - 1
X-154197734-G-A c.881C>T p.Thr294Ile Missense 7/26 - 1
X-154197737-T-C c.878A>G p.His293Arg Missense 7/26 - 1
X-154197758-T-G c.857A>C p.His286Pro Missense 7/26 - 1
X-154197774-T-C c.841A>G p.Thr281Ala Missense 7/26 - 1
X-154197776-C-A c.839G>T p.Gly280Val Missense 7/26 - 1
X-154197776-C-T c.839G>A p.Gly280Asp Missense 7/26 - 1
X-154197789-C-T c.826G>A p.Val276Met Missense 7/26 - 2
X-154197791-T-C c.824A>G p.His275Arg Missense 7/26 - 1
X-154197792-G-A c.823C>T p.His275Tyr Missense 7/26 - 1
X-154197793-C-T c.822G>A p.Trp274* Nonsense 7/26 - 4
X-154197793-C-A c.822G>T p.Trp274Cys Missense 7/26 - 4
X-154197798-A-G c.817T>C p.Tyr273His Missense 7/26 - 1
X-154197804-A-T c.811T>A p.Ser271Thr Missense 7/26 - 1
X-154197824-A-G c.791T>C p.Leu264Pro Missense 7/26 - 1
X-154198170-G-C c.788-343C>G - IntronicSNV - 6/25 2
X-154209613-A-G c.787+3349T>C - IntronicSNV - 6/25 1
X-154209864-A-G c.787+3098T>C - IntronicSNV - 6/25 1
X-154210660-C-T c.787+2302G>A - IntronicSNV - 6/25 1
X-154211092-G-A c.787+1870C>T - IntronicSNV - 6/25 1
X-154212959-AT-A c.787+3del - IntronicDeletion - 6/25 1
X-154212961-C-T c.787+1G>A - IntronicSNV - 6/25 1
X-154212961-C-A c.787+1G>T - IntronicSNV - 6/25 1
X-154212964-G-A c.785C>T p.Pro262Leu Missense 6/26 - 1
X-154212967-A-G c.782T>C p.Leu261Pro Missense 6/26 - 1
X-154212969-GA-G c.780del p.Leu261Cysfs*4 Frameshift 6/26 - 1
X-154212970-G-C c.779C>G p.Ser260Cys Missense 6/26 - 1
X-154212985-C-T c.764G>A p.Gly255Asp Missense 6/26 - 1
X-154213015-CG-GC c.733_734delinsGC p.Arg245Ala Missense 6/26 - 1
X-154213025-GCAGCATCCCTATCCTGCATCAAGGAGTTCTTTGTTTCTGAGTGCCAACTTTTCCCTGAT-G c.671-5_724del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/26 5/25 1
X-154213040-G-A c.709C>T p.Gln237* Nonsense 6/26 - 1
X-154213045-AA-CA c.704delinsG p.Leu235Trp Missense 6/26 - 1
X-154213045-AA-GC c.703_704delinsGC p.Leu235Ala Missense 6/26 - 1
X-154213045-AA-GA c.704delinsC p.Leu235Ser Missense 6/26 - 1
X-154213061-C-T c.688G>A p.Glu230Lys Missense 6/26 - 1
X-154213062-CTGAGTGCCAACTTTTCCCTGATGAGAGAGAAGGCAAAGATAGAGTCAGCTAAGCATGTG-C c.671-42_687del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/26 5/25 1
X-154215506-A-G c.670+6T>C - IntronicSNV - 5/25 1
X-154215507-C-T c.670+5G>A - IntronicSNV - 5/25 1
X-154215510-A-C c.670+2T>G - IntronicSNV - 5/25 1
X-154215510-A-G c.670+2T>C - IntronicSNV - 5/25 1
X-154215511-C-A c.670+1G>T - IntronicSNV - 5/25 1
X-154215511-C-T c.670+1G>A - IntronicSNV - 5/25 1
X-154215512-C-T c.670G>A p.Gly224Arg Missense 5/26 - 1
X-154215512-C-A c.670G>T p.Gly224Trp Missense 5/26 - 2
X-154215513-T-C c.669A>G p.Glu223Glu Synonymous 5/26 - 1
X-154215513-T-A c.669A>T p.Glu223Asp Missense 5/26 - 1
X-154215514-T-C c.668A>G p.Glu223Gly Missense 5/26 - 1
X-154215515-C-T c.667G>A p.Glu223Lys Missense 5/26 - 1
X-154215516-ATC-AAG c.664_665delinsCT p.Asp222Leu Missense 5/26 - 1
X-154215527-C-T c.655G>A p.Ala219Thr Missense 5/26 - 2
X-154215548-G-A c.634C>T p.His212Tyr Missense 5/26 - 1
X-154215573-CAG-TTT c.607_609delinsAAA p.Leu203Lys Missense 5/26 - 1
X-154215574-A-G c.608T>C p.Leu203Pro Missense 5/26 - 1
X-154215580-C-T c.602G>A p.Gly201Glu Missense 5/26 - 1
X-154215590-A-C c.602-10T>G - IntronicSNV - 4/25 1
X-154215612-T-C c.602-32A>G - IntronicSNV - 4/25 1
X-154219318-A-G c.601+1893T>C - IntronicSNV - 4/25 2
X-154221042-A-G c.601+169T>C - IntronicSNV - 4/25 1
X-154221207-CTT-C c.601+3_601+4del - IntronicDeletion - 4/25 1
X-154221216-C-G c.596G>C p.Arg199Thr Missense 4/26 - 1
X-154221220-A-G c.592T>C p.Cys198Arg Missense 4/26 - 1
X-154221223-C-G c.589G>C p.Val197Leu Missense 4/26 - 1
X-154221228-A-G c.584T>C p.Leu195Pro Missense 4/26 - 1
X-154221232-C-T c.580G>A p.Ala194Thr Missense 4/26 - 3
X-154221237-A-G c.575T>C p.Ile192Thr Missense 4/26 - 1
X-154221243-C-T c.569G>A p.Gly190Asp Missense 4/26 - 1
X-154221254-G-C c.558C>G p.Asp186Glu Missense 4/26 - 1
X-154221256-C-T c.556G>A p.Asp186Asn Missense 4/26 - 1
X-154221259-TTT-T c.554_555del p.Lys185Argfs*14 Frameshift 4/26 - 1
X-154221282-TA-AC c.529_530delinsGT p.Tyr177Val Missense 4/26 - 1
X-154221288-T-G c.524A>C p.Tyr175Ser Missense 4/26 - 1
X-154221312-G-C c.500C>G p.Ala167Gly Missense 4/26 - 1
X-154221318-G-A c.494C>T p.Pro165Leu Missense 4/26 - 1
X-154221319-G-A c.493C>T p.Pro165Ser Missense 4/26 - 1
X-154221319-G-T c.493C>A p.Pro165Thr Missense 4/26 - 1
X-154221327-T-C c.485A>G p.Glu162Gly Missense 4/26 - 1
X-154221346-C-T c.466G>A p.Val156Ile Missense 4/26 - 1
X-154221348-T-G c.464A>C p.Tyr155Ser Missense 4/26 - 1
X-154221359-TC-AC c.453delinsT p.Gly151Gly Missense 4/26 - 1
X-154221363-CC-AC c.449delinsT p.Gly150Val Missense 4/26 - 1
X-154221366-G-C c.446C>G p.Pro149Arg Missense 4/26 - 2
X-154221390-T-C c.422A>G p.Glu141Gly Missense 4/26 - 1
X-154221393-CT-CA c.418delinsT p.Arg140Trp Missense 4/26 - 1
X-154221399-C-T c.413G>A p.Ser138Asn Missense 4/26 - 1
X-154221399-CT-GC c.412_413delinsGC p.Ser138Ala Missense 4/26 - 1
X-154221403-T-G c.409A>C p.Thr137Pro Missense 4/26 - 1
X-154221409-C-T c.403G>A p.Asp135Asn Missense 4/26 - 1
X-154221413-A-T c.399T>A p.Tyr133* Nonsense 4/26 - 1
X-154221416-T-G c.396A>C p.Glu132Asp Missense 4/26 - 2
X-154221432-G-A c.389-9C>T - IntronicSNV - 3/25 1
X-154223203-C-T c.389-1780G>A - IntronicSNV - 3/25 3
X-154224425-A-T c.388+823T>A - IntronicSNV - 3/25 1
X-154225257-C-T c.379G>A p.Ala127Thr Missense 3/26 - 1
X-154225274-C-G c.362G>C p.Gly121Ala Missense 3/26 - 1
X-154225281-C-G c.355G>C p.Ala119Pro Missense 3/26 - 1
X-154225283-AT-A c.353del p.His118Leufs*43 Frameshift 3/26 - 1
X-154225289-CT-CC c.346delinsG p.Ser116Gly Missense 3/26 - 1
X-154225293-C-G c.343G>C p.Val115Leu Missense 3/26 - 1
X-154225304-G-C c.332C>G p.Ala111Gly Missense 3/26 - 1
X-154225305-C-T c.331G>A p.Ala111Thr Missense 3/26 - 2
X-154225310-T-C c.326A>G p.Asn109Ser Missense 3/26 - 1
X-154225310-TT-GC c.325_326delinsGC p.Asn109Ala Missense 3/26 - 1
X-154225314-T-C c.322A>G p.Lys108Glu Missense 3/26 - 1
X-154225318-TG-AC c.317_318delinsGT p.Thr106Ser Missense 3/26 - 1
X-154225325-A-C c.311T>G p.Val104Gly Missense 3/26 - 1
X-154225345-A-T c.291T>A p.Ala97Ala Synonymous 3/26 - 1
X-154225345-A-G c.291T>C p.Ala97Ala Synonymous 3/26 - 1
X-154225345-A-C c.291T>G p.Ala97Ala Synonymous 3/26 - 1
X-154225355-G-A c.281C>T p.Thr94Ile Missense 3/26 - 1
X-154225362-C-T c.274G>A p.Gly92Ser Missense 3/26 - 1
X-154225362-C-A c.274G>T p.Gly92Cys Missense 3/26 - 1
X-154225362-C-G c.274G>C p.Gly92Arg Missense 3/26 - 1
X-154225368-G-T c.268C>A p.Leu90Met Missense 3/26 - 1
X-154227757-T-C c.262A>G p.Met88Val Missense 2/26 - 1
X-154227759-C-T c.260G>A p.Trp87* Nonsense 2/26 - 1
X-154227768-CT-GC c.250_251delinsGC p.Arg84Ala Missense 2/26 - 1
X-154227771-G-C c.248C>G p.Pro83Arg Missense 2/26 - 1
X-154227772-G-A c.247C>T p.Pro83Ser Missense 2/26 - 1
X-154227777-GC-TG c.241_242delinsCA p.Ala81His Missense 2/26 - 1
X-154227780-A-G c.239T>C p.Ile80Thr Missense 2/26 - 1
X-154227787-A-G c.232T>C p.Phe78Leu Missense 2/26 - 1
X-154227792-TG-TT c.226delinsA p.His76Asn Missense 2/26 - 1
X-154227792-TG-GC c.226_227delinsGC p.His76Ala Missense 2/26 - 3
X-154227795-T-A c.224A>T p.Asp75Val Missense 2/26 - 1
X-154227810-AAACA-A c.209_212del p.Phe70* Frameshift 2/26 - 1
X-154227812-CA-AT c.206_207delinsAT p.Leu69His Missense 2/26 - 1
X-154227814-G-C c.205C>G p.Leu69Val Missense 2/26 - 2
X-154227814-G-A c.205C>T p.Leu69Leu Synonymous 2/26 - 1
X-154227819-T-G c.200A>C p.Lys67Thr Missense 2/26 - 1
X-154227822-TT-GC c.196_197delinsGC p.Lys66Ala Missense 2/26 - 1
X-154227839-G-T c.180C>A p.Asn60Lys Missense 2/26 - 1
X-154227839-G-C c.180C>G p.Asn60Lys Missense 2/26 - 1
X-154227843-AA-GC c.175_176delinsGC p.Phe59Ala Missense 2/26 - 1
X-154227849-A-C c.170T>G p.Phe57Cys Missense 2/26 - 1
X-154227853-A-C c.166T>G p.Ser56Ala Missense 2/26 - 1
X-154227855-TT-GC c.163_164delinsGC p.Lys55Ala Missense 2/26 - 1
X-154227855-T-C c.164A>G p.Lys55Arg Missense 2/26 - 1
X-154228944-C-T c.144-1069G>A - IntronicSNV - 1/25 1
X-154229813-C-T c.144-1938G>A - IntronicSNV - 1/25 1
X-154232274-G-A c.144-4399C>T - IntronicSNV - 1/25 2
X-154233774-A-G c.144-5899T>C - IntronicSNV - 1/25 2
X-154238676-C-T c.144-10801G>A - IntronicSNV - 1/25 1
X-154238685-A-G c.144-10810T>C - IntronicSNV - 1/25 1
X-154243910-T-C c.143+6775A>G - IntronicSNV - 1/25 1
X-154248283-G-A c.143+2402C>T - IntronicSNV - 1/25 2
X-154249118-T-C c.143+1567A>G - IntronicSNV - 1/25 1
X-154250677-G-A c.143+8C>T - IntronicSNV - 1/25 1
X-154250686-T-C c.142A>G p.Arg48Gly Missense 1/26 - 1
X-154250695-C-A c.133G>T p.Val45Leu Missense 1/26 - 1
X-154250700-AG-GC c.127_128delinsGC p.Leu43Ala Missense 1/26 - 1
X-154250708-G-T c.120C>A p.Leu40Leu Synonymous 1/26 - 1
X-154250720-C-G c.108G>C p.Met36Ile Missense 1/26 - 1
X-154250720-C-A c.108G>T p.Met36Ile Missense 1/26 - 1
X-154250720-C-T c.108G>A p.Met36Ile Missense 1/26 - 1
X-154250725-A-T c.103T>A p.Tyr35Asn Missense 1/26 - 1
X-154250730-C-T c.98G>A p.Trp33* Nonsense 1/26 - 1
X-154250734-A-C c.94T>G p.Ser32Ala Missense 1/26 - 1
X-154250738-T-A c.90A>T p.Glu30Asp Missense 1/26 - 1
X-154250738-T-G c.90A>C p.Glu30Asp Missense 1/26 - 1
X-154250741-CAC-TTT c.85_87delinsAAA p.Val29Lys Missense 1/26 - 1
X-154250745-GC-CT c.82_83delinsAG p.Ala28Arg Missense 1/26 - 1
X-154250753-GG-G c.76del p.Leu26Trpfs*46 Frameshift 1/26 - 1
X-154250754-T-G c.74A>C p.Tyr25Ser Missense 1/26 - 1
X-154250754-TA-CT c.73_74delinsAG p.Tyr25Ser Missense 1/26 - 1
X-154250759-T-C c.69A>G p.Arg23Arg Synonymous 1/26 - 1
X-154250761-T-G c.67A>C p.Arg23Arg Synonymous 1/26 - 1
X-154250761-T-C c.67A>G p.Arg23Gly Missense 1/26 - 1
X-154250775-AA-GA c.53delinsC p.Phe18Ser Missense 1/26 - 1
X-154250775-A-C c.53T>G p.Phe18Cys Missense 1/26 - 1
X-154250775-AA-GC c.52_53delinsGC p.Phe18Ala Missense 1/26 - 6
X-154250778-CA-GC c.49_50delinsGC p.Cys17Ala Missense 1/26 - 3
X-154250778-C-G c.50G>C p.Cys17Ser Missense 1/26 - 1
X-154250779-A-T c.49T>A p.Cys17Ser Missense 1/26 - 1
X-154250780-GA-AA c.48delinsT p.Phe16Phe Nonsense 1/26 - 2
X-154250780-GAA-ATG c.46_48delinsCAT p.Phe16His Missense 1/26 - 1
X-154250781-AA-CC c.46_47delinsGG p.Phe16Gly Missense 1/26 - 1
X-154250781-AA-AC c.46delinsG p.Phe16Val Missense 1/26 - 1
X-154250781-AA-GC c.46_47delinsGC p.Phe16Ala Missense 1/26 - 3
X-154250781-A-C c.47T>G p.Phe16Cys Missense 1/26 - 1
X-154250781-A-G c.47T>C p.Phe16Ser Missense 1/26 - 1
X-154250782-A-G c.46T>C p.Phe16Leu Missense 1/26 - 1
X-154250780-G-T c.48C>A p.Phe16Leu Missense 1/26 - 1
X-154250780-G-C c.48C>G p.Phe16Leu Missense 1/26 - 1
X-154250784-CG-AA c.43_44delinsTT p.Arg15Leu Missense 1/26 - 1
X-154250784-CG-GC c.43_44delinsGC p.Arg15Ala Missense 1/26 - 1
X-154250790-AG-GC c.37_38delinsGC p.Leu13Ala Missense 1/26 - 1
X-154250792-G-A c.36C>T p.Cys12Cys Synonymous 1/26 - 1
X-154250793-CA-GC c.34_35delinsGC p.Cys12Ala Missense 1/26 - 4
X-154250797-G-A c.31C>T p.Leu11Leu Synonymous 1/26 - 1
X-154250795-C-T c.33G>A p.Leu11Leu Synonymous 1/26 - 1
X-154250795-C-G c.33G>C p.Leu11Leu Synonymous 1/26 - 1
X-154250795-C-A c.33G>T p.Leu11Leu Synonymous 1/26 - 1
X-154250796-A-C c.32T>G p.Leu11Arg Missense 1/26 - 1
X-154250796-A-G c.32T>C p.Leu11Pro Missense 1/26 - 1
X-154250798-A-G c.30T>C p.Phe10Phe Synonymous 1/26 - 2
X-154250799-A-T c.29T>A p.Phe10Tyr Missense 1/26 - 1
X-154250799-A-C c.29T>G p.Phe10Cys Missense 1/26 - 1
X-154250799-AA-GC c.28_29delinsGC p.Phe10Ala Missense 1/26 - 8
X-154250799-AA-GA c.29delinsC p.Phe10Ser Missense 1/26 - 1
X-154250800-A-T c.28T>A p.Phe10Ile Missense 1/26 - 1
X-154250805-GC-G c.23del p.Cys8Serfs*64 Frameshift 1/26 - 1
X-154250806-A-G c.22T>C p.Cys8Arg Missense 1/26 - 1