POLE DNA polymerase epsilon, catalytic subunit

Canonical transcript: NM_006231

1256 unique variant annotations were identified in 427 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-133200748-T-C c.*535A>G - 3-UTRSNV 49/49 - 3
12-133201290-C-T c.6854G>A p.Gly2285Asp Missense 49/49 - 2
12-133201301-G-T c.6843C>A p.Asn2281Lys Missense 49/49 - 1
12-133201307-C-A c.6837G>T p.Gln2279His Missense 49/49 - 1
12-133201307-C-G c.6837G>C p.Gln2279His Missense 49/49 - 1
12-133201311-A-G c.6833T>C p.Leu2278Pro Missense 49/49 - 1
12-133201335-A-T c.6809T>A p.Leu2270His Missense 49/49 - 1
12-133201347-CC-TT c.6796_6797delinsAA p.Gly2266Asn Missense 49/49 - 1
12-133201357-G-A c.6787C>T p.Gln2263* Nonsense 49/49 - 1
12-133201360-C-A c.6784G>T p.Ala2262Ser Missense 49/49 - 1
12-133201369-G-A c.6775C>T p.Arg2259Trp Missense 49/49 - 2
12-133201381-T-A c.6763A>T p.Ile2255Phe Missense 49/49 - 1
12-133201381-T-C c.6763A>G p.Ile2255Val Missense 49/49 - 1
12-133201382-C-G c.6762G>C p.Gln2254His Missense 49/49 - 1
12-133201391-G-C c.6753C>G p.Phe2251Leu Missense 49/49 - 1
12-133201391-G-T c.6753C>A p.Phe2251Leu Missense 49/49 - 1
12-133201502-T-C c.6736A>G p.Ile2246Val Missense 48/49 - 1
12-133201505-T-A c.6733A>T p.Thr2245Ser Missense 48/49 - 1
12-133201522-G-A c.6716C>T p.Ala2239Val Missense 48/49 - 2
12-133201523-C-T c.6715G>A p.Ala2239Thr Missense 48/49 - 1
12-133201544-T-C c.6694A>G p.Met2232Val Missense 48/49 - 2
12-133201546-C-T c.6692G>A p.Ser2231Asn Missense 48/49 - 1
12-133201564-C-T c.6674G>A p.Arg2225His Missense 48/49 - 1
12-133201570-T-C c.6668A>G p.Lys2223Arg Missense 48/49 - 1
12-133201577-A-G c.6661T>C p.Cys2221Arg Missense 48/49 - 1
12-133201580-C-T c.6658G>A p.Val2220Ile Missense 48/49 - 1
12-133201668-C-T c.6658-88G>A - IntronicSNV - 47/48 1
12-133201947-T-C c.6657+284A>G - IntronicSNV - 47/48 3
12-133202004-C-T c.6657+227G>A - IntronicSNV - 47/48 3
12-133202215-G-A c.6657+16C>T - IntronicSNV - 47/48 1
12-133202250-G-A c.6638C>T p.Ala2213Val Missense 47/49 - 4
12-133202265-CT-C c.6623del p.Gln2208Argfs*4 Frameshift 47/49 - 1
12-133202269-G-T c.6619C>A p.Leu2207Ile Missense 47/49 - 1
12-133202283-G-A c.6605C>T p.Thr2202Met Missense 47/49 - 2
12-133202287-T-A c.6601A>T p.Met2201Leu Missense 47/49 - 1
12-133202287-T-C c.6601A>G p.Met2201Val Missense 47/49 - 1
12-133202287-T-G c.6601A>C p.Met2201Leu Missense 47/49 - 1
12-133202290-C-T c.6598G>A p.Glu2200Lys Missense 47/49 - 1
12-133202347-C-A c.6541G>T p.Val2181Phe Missense 47/49 - 1
12-133202349-G-A c.6539C>T p.Ala2180Val Missense 47/49 - 2
12-133202352-C-G c.6536G>C p.Gly2179Ala Missense 47/49 - 1
12-133202705-C-G c.6529G>C p.Glu2177Gln Missense 46/49 - 1
12-133202717-GAG-G c.6518_6519del p.Ser2173Phefs*130 Frameshift 46/49 - 1
12-133202720-C-G c.6514G>C p.Asp2172His Missense 46/49 - 1
12-133202738-C-T c.6496G>A p.Asp2166Asn Missense 46/49 - 1
12-133202740-C-T c.6494G>A p.Arg2165His Missense 46/49 - 1
12-133202765-T-C c.6469A>G p.Ile2157Val Missense 46/49 - 1
12-133202771-C-T c.6463G>A p.Glu2155Lys Missense 46/49 - 1
12-133202780-C-A c.6454G>T p.Val2152Leu Missense 46/49 - 1
12-133202780-C-T c.6454G>A p.Val2152Met Missense 46/49 - 2
12-133202810-C-A c.6424G>T p.Ala2142Ser Missense 46/49 - 1
12-133202816-C-G c.6418G>C p.Glu2140Gln Missense 46/49 - 5
12-133202816-C-T c.6418G>A p.Glu2140Lys Missense 46/49 - 6
12-133202825-C-A c.6409G>T p.Glu2137* Nonsense 46/49 - 1
12-133202830-A-T c.6404T>A p.Val2135Asp Missense 46/49 - 1
12-133202857-T-C c.6377A>G p.Asn2126Ser Missense 46/49 - 1
12-133202889-G-C c.6345C>G p.Asp2115Glu Missense 46/49 - 1
12-133202896-G-C c.6338C>G p.Ser2113Cys Missense 46/49 - 1
12-133202900-G-T c.6334C>A p.Leu2112Met Missense 46/49 - 2
12-133206648-T-C c.6330+2253A>G - IntronicSNV - 45/48 4
12-133207412-T-C c.6330+1489A>G - IntronicSNV - 45/48 2
12-133208886-C-T c.6330+15G>A - IntronicSNV - 45/48 1
12-133208906-A-G c.6325T>C p.Cys2109Arg Missense 45/49 - 2
12-133208908-A-AA c.6323dup p.Cys2109Valfs*16 Frameshift 45/49 - 1
12-133208908-A-G c.6323T>C p.Val2108Ala Missense 45/49 - 1
12-133208930-C-A c.6301G>T p.Ala2101Ser Missense 45/49 - 1
12-133208975-T-G c.6256A>C p.Met2086Leu Missense 45/49 - 1
12-133208979-T-A c.6252A>T p.Ser2084Ser Synonymous 45/49 - 2
12-133208979-T-C c.6252A>G p.Ser2084Ser Synonymous 45/49 - 6
12-133208979-T-G c.6252A>C p.Ser2084Ser Synonymous 45/49 - 2
12-133208980-G-A c.6251C>T p.Ser2084Leu Missense 45/49 - 1
12-133208986-T-C c.6245A>G p.Glu2082Gly Missense 45/49 - 1
12-133209004-C-A c.6227G>T p.Gly2076Val Missense 45/49 - 4
12-133209010-A-G c.6221T>C p.Val2074Ala Missense 45/49 - 1
12-133209015-C-G c.6216G>C p.Lys2072Asn Missense 45/49 - 1
12-133209050-G-A c.6181C>T p.Gln2061* Nonsense 45/49 - 1
12-133209065-C-T c.6166G>A p.Ala2056Thr Missense 45/49 - 3
12-133209081-G-T c.6150C>A p.Phe2050Leu Missense 45/49 - 1
12-133209085-G-A c.6146C>T p.Thr2049Ile Missense 45/49 - 1
12-133209086-T-C c.6145A>G p.Thr2049Ala Missense 45/49 - 3
12-133209096-T-G c.6137-2A>C - IntronicSNV - 44/48 1
12-133209251-G-A c.6135C>T p.Pro2045Pro Synonymous 44/49 - 1
12-133209262-C-G c.6124G>C p.Gly2042Arg Missense 44/49 - 1
12-133209262-C-T c.6124G>A p.Gly2042Arg Missense 44/49 - 1
12-133209267-G-A c.6119C>T p.Ala2040Val Missense 44/49 - 2
12-133209267-G-T c.6119C>A p.Ala2040Glu Missense 44/49 - 1
12-133209271-C-A c.6115G>T p.Gly2039Trp Missense 44/49 - 1
12-133209274-C-T c.6112G>A p.Glu2038Lys Missense 44/49 - 1
12-133209291-T-C c.6095A>G p.Gln2032Arg Missense 44/49 - 1
12-133209293-GG-G c.6094del p.Gln2032Serfs*16 Frameshift 44/49 - 1
12-133209294-C-T c.6092G>A p.Ser2031Asn Missense 44/49 - 1
12-133209309-C-A c.6077G>T p.Arg2026Met Missense 44/49 - 1
12-133209313-C-T c.6073G>A p.Val2025Met Missense 44/49 - 1
12-133209315-G-A c.6071C>T p.Pro2024Leu Missense 44/49 - 1
12-133209325-C-A c.6061G>T p.Gly2021Trp Missense 44/49 - 1
12-133209336-CG-GC c.6049_6050delinsGC p.Arg2017Ala Missense 44/49 - 1
12-133209336-C-T c.6050G>A p.Arg2017His Missense 44/49 - 1
12-133209346-C-G c.6040G>C p.Gly2014Arg Missense 44/49 - 1
12-133209346-C-T c.6040G>A p.Gly2014Arg Missense 44/49 - 1
12-133209349-C-T c.6037G>A p.Asp2013Asn Missense 44/49 - 4
12-133209363-GT-G c.6023del p.Tyr2008Serfs*4 Frameshift 44/49 - 1
12-133209374-G-A c.6012C>T p.Ile2004Ile Synonymous 44/49 - 1
12-133209381-G-A c.6005C>T p.Ala2002Val Missense 44/49 - 1
12-133210792-T-C c.5984A>G p.Tyr1995Cys Missense 43/49 - 1
12-133210801-C-G c.5975G>C p.Cys1992Ser Missense 43/49 - 1
12-133210810-G-C c.5966C>G p.Ala1989Gly Missense 43/49 - 1
12-133210811-C-T c.5965G>A p.Ala1989Thr Missense 43/49 - 1
12-133210832-T-C c.5944A>G p.Ile1982Val Missense 43/49 - 1
12-133210836-C-T c.5940G>A p.Trp1980* Nonsense 43/49 - 1
12-133210857-C-A c.5919G>T p.Glu1973Asp Missense 43/49 - 1
12-133210857-C-G c.5919G>C p.Glu1973Asp Missense 43/49 - 1
12-133210861-A-C c.5915T>G p.Val1972Gly Missense 43/49 - 1
12-133210862-C-T c.5914G>A p.Val1972Met Missense 43/49 - 2
12-133210871-C-A c.5905G>T p.Glu1969* Nonsense 43/49 - 1
12-133210871-C-T c.5905G>A p.Glu1969Lys Missense 43/49 - 1
12-133210873-T-C c.5903A>G p.Glu1968Gly Missense 43/49 - 1
12-133210876-G-A c.5900C>T p.Ala1967Val Missense 43/49 - 2
12-133210895-C-T c.5881G>A p.Gly1961Arg Missense 43/49 - 1
12-133210931-C-T c.5845G>A p.Glu1949Lys Missense 43/49 - 1
12-133210951-T-C c.5825A>G p.Lys1942Arg Missense 43/49 - 1
12-133210958-A-C c.5818T>G p.Ser1940Ala Missense 43/49 - 1
12-133211590-C-T c.5812-626G>A - IntronicSNV - 42/48 1
12-133212483-C-G c.5806G>C p.Gly1936Arg Missense 42/49 - 1
12-133212483-C-T c.5806G>A p.Gly1936Arg Missense 42/49 - 1
12-133212494-C-T c.5795G>A p.Arg1932His Missense 42/49 - 1
12-133212500-G-A c.5789C>T p.Ser1930Leu Missense 42/49 - 1
12-133212500-G-C c.5789C>G p.Ser1930* Nonsense 42/49 - 1
12-133212500-G-T c.5789C>A p.Ser1930* Nonsense 42/49 - 1
12-133212515-A-G c.5774T>C p.Ile1925Thr Missense 42/49 - 1
12-133212528-T-C c.5761A>G p.Asn1921Asp Missense 42/49 - 1
12-133212546-G-A c.5743C>T p.Leu1915Phe Missense 42/49 - 1
12-133212559-G-T c.5730C>A p.Cys1910* Nonsense 42/49 - 1
12-133212568-G-C c.5721C>G p.Phe1907Leu Missense 42/49 - 2
12-133212568-G-T c.5721C>A p.Phe1907Leu Missense 42/49 - 2
12-133212570-A-G c.5719T>C p.Phe1907Leu Missense 42/49 - 2
12-133212579-T-C c.5710A>G p.Thr1904Ala Missense 42/49 - 1
12-133212580-C-A c.5709G>T p.Leu1903Leu Synonymous 42/49 - 1
12-133212580-C-G c.5709G>C p.Leu1903Leu Synonymous 42/49 - 1
12-133212580-C-T c.5709G>A p.Leu1903Leu Synonymous 42/49 - 1
12-133212582-G-A c.5707C>T p.Leu1903Leu Synonymous 42/49 - 6
12-133212584-G-T c.5705C>A p.Ser1902Tyr Missense 42/49 - 2
12-133212598-C-A c.5691G>T p.Lys1897Asn Missense 42/49 - 1
12-133212598-C-G c.5691G>C p.Lys1897Asn Missense 42/49 - 1
12-133212608-A-G c.5681T>C p.Ile1894Thr Missense 42/49 - 1
12-133212737-C-T c.5679-127G>A - IntronicSNV - 41/48 1
12-133213450-C-T c.5679-840G>A - IntronicSNV - 41/48 2
12-133214599-C-T c.5678+1G>A - IntronicSNV - 41/48 1
12-133214603-C-T c.5675G>A p.Ser1892Asn Missense 41/49 - 3
12-133214612-T-C c.5666A>G p.Tyr1889Cys Missense 41/49 - 4
12-133214619-C-T c.5659G>A p.Val1887Met Missense 41/49 - 3
12-133214643-G-A c.5635C>T p.Arg1879Cys Missense 41/49 - 3
12-133214645-C-T c.5633G>A p.Arg1878His Missense 41/49 - 2
12-133214646-G-A c.5632C>T p.Arg1878Cys Missense 41/49 - 2
12-133214655-T-A c.5623A>T p.Thr1875Ser Missense 41/49 - 1
12-133214657-ACA-A c.5621_5622del p.Cys1874Tyrfs*47 Frameshift 41/49 - 2
12-133214665-G-GC c.5612_5613insG p.Ile1871Metfs*51 Frameshift 41/49 - 1
12-133214670-G-A c.5608C>T p.Arg1870Cys Missense 41/49 - 1
12-133214706-G-A c.5572C>T p.Arg1858Cys Missense 41/49 - 1
12-133214709-TT-T c.5570del p.Lys1857Serfs*47 Frameshift 41/49 - 1
12-133214718-C-A c.5560G>T p.Ala1854Ser Missense 41/49 - 1
12-133215714-A-G c.5549T>C p.Leu1850Pro Missense 40/49 - 1
12-133215727-T-G c.5536A>C p.Lys1846Gln Missense 40/49 - 1
12-133215729-A-C c.5534T>G p.Met1845Arg Missense 40/49 - 1
12-133215747-C-A c.5516G>T p.Arg1839Leu Missense 40/49 - 1
12-133215747-C-T c.5516G>A p.Arg1839His Missense 40/49 - 2
12-133215748-G-A c.5515C>T p.Arg1839Cys Missense 40/49 - 2
12-133215756-G-T c.5507C>A p.Ala1836Asp Missense 40/49 - 1
12-133215766-G-T c.5497C>A p.His1833Asn Missense 40/49 - 1
12-133215787-G-A c.5476C>T p.Arg1826Trp Missense 40/49 - 4
12-133215791-C-A c.5472G>T p.Trp1824Cys Missense 40/49 - 1
12-133215795-C-T c.5468G>A p.Arg1823His Missense 40/49 - 1
12-133215796-G-A c.5467C>T p.Arg1823Cys Missense 40/49 - 1
12-133215798-T-A c.5465A>T p.Tyr1822Phe Missense 40/49 - 1
12-133215799-A-T c.5464T>A p.Tyr1822Asn Missense 40/49 - 1
12-133215820-C-G c.5443G>C p.Asp1815His Missense 40/49 - 1
12-133215825-T-A c.5438A>T p.Tyr1813Phe Missense 40/49 - 1
12-133215825-T-C c.5438A>G p.Tyr1813Cys Missense 40/49 - 2
12-133215835-G-A c.5428C>T p.His1810Tyr Missense 40/49 - 1
12-133215848-C-A c.5415G>T p.Glu1805Asp Missense 40/49 - 1
12-133215848-C-G c.5415G>C p.Glu1805Asp Missense 40/49 - 1
12-133215855-A-C c.5408T>G p.Val1803Gly Missense 40/49 - 1
12-133215862-C-G c.5401G>C p.Gly1801Arg Missense 40/49 - 1
12-133215868-C-A c.5395G>T p.Val1799Phe Missense 40/49 - 1
12-133215868-C-T c.5395G>A p.Val1799Ile Missense 40/49 - 1
12-133215885-C-T c.5379-1G>A - IntronicSNV - 39/48 1
12-133216617-A-G c.5379-733T>C - IntronicSNV - 39/48 1
12-133218254-G-A c.5357C>T p.Ala1786Val Missense 39/49 - 1
12-133218266-T-C c.5345A>G p.Tyr1782Cys Missense 39/49 - 1
12-133218272-G-C c.5339C>G p.Ala1780Gly Missense 39/49 - 1
12-133218275-G-A c.5336C>T p.Pro1779Leu Missense 39/49 - 1
12-133218277-G-A c.5334C>T p.Ala1778Ala Synonymous 39/49 - 2
12-133218294-C-A c.5317G>T p.Gly1773Cys Missense 39/49 - 1
12-133218306-T-C c.5305A>G p.Met1769Val Missense 39/49 - 1
12-133218308-T-C c.5303A>G p.Asp1768Gly Missense 39/49 - 1
12-133218324-G-A c.5287C>T p.Gln1763* Nonsense 39/49 - 1
12-133218333-C-T c.5278G>A p.Val1760Met Missense 39/49 - 1
12-133218341-C-A c.5270G>T p.Ser1757Ile Missense 39/49 - 1
12-133218347-C-T c.5264G>A p.Gly1755Glu Missense 39/49 - 1
12-133218349-CC-C c.5265del p.Ile1756Serfs*5 Frameshift 39/49 - 1
12-133218351-T-C c.5260A>G p.Met1754Val Missense 39/49 - 1
12-133218357-C-G c.5254G>C p.Asp1752His Missense 39/49 - 1
12-133218357-C-T c.5254G>A p.Asp1752Asn Missense 39/49 - 5
12-133218369-T-G c.5242A>C p.Met1748Leu Missense 39/49 - 1
12-133218372-C-T c.5239G>A p.Asp1747Asn Missense 39/49 - 1
12-133218375-T-G c.5236A>C p.Asn1746His Missense 39/49 - 1
12-133218407-G-A c.5204C>T p.Ala1735Val Missense 39/49 - 1
12-133218416-T-C c.5195A>G p.Gln1732Arg Missense 39/49 - 1
12-133218420-G-A c.5191C>T p.Leu1731Phe Missense 39/49 - 1
12-133218431-A-T c.5180T>A p.Val1727Glu Missense 39/49 - 1
12-133218763-C-A c.5173G>T p.Val1725Leu Missense 38/49 - 1
12-133218768-G-A c.5168C>T p.Ser1723Phe Missense 38/49 - 1
12-133218842-C-A c.5094G>T p.Glu1698Asp Missense 38/49 - 3
12-133218842-C-G c.5094G>C p.Glu1698Asp Missense 38/49 - 3
12-133218862-G-A c.5074C>T p.Pro1692Ser Missense 38/49 - 1
12-133218865-G-A c.5071C>T p.Arg1691Cys Missense 38/49 - 1
12-133218867-G-A c.5069C>T p.Ala1690Val Missense 38/49 - 1
12-133218876-G-A c.5060C>T p.Ser1687Phe Missense 38/49 - 1
12-133218881-C-A c.5055G>T p.Trp1685Cys Missense 38/49 - 1
12-133218881-C-G c.5055G>C p.Trp1685Cys Missense 38/49 - 1
12-133218891-T-C c.5045A>G p.His1682Arg Missense 38/49 - 1
12-133218915-G-A c.5021C>T p.Ala1674Val Missense 38/49 - 1
12-133218920-G-C c.5016C>G p.Phe1672Leu Missense 38/49 - 3
12-133218920-G-T c.5016C>A p.Phe1672Leu Missense 38/49 - 3
12-133218922-A-G c.5014T>C p.Phe1672Leu Missense 38/49 - 3
12-133218928-C-T c.5008G>A p.Asp1670Asn Missense 38/49 - 1
12-133218969-G-A c.4967C>T p.Pro1656Leu Missense 38/49 - 1
12-133219039-G-A c.4952+53C>T - IntronicSNV - 37/48 1
12-133219091-C-T c.4952+1G>A - IntronicSNV - 37/48 1
12-133219111-G-A c.4933C>T p.Gln1645* Nonsense 37/49 - 1
12-133219113-G-A c.4931C>T p.Ser1644Leu Missense 37/49 - 3
12-133219119-C-A c.4925G>T p.Cys1642Phe Missense 37/49 - 1
12-133219119-C-T c.4925G>A p.Cys1642Tyr Missense 37/49 - 2
12-133219140-T-C c.4904A>G p.His1635Arg Missense 37/49 - 1
12-133219152-C-A c.4892G>T p.Arg1631Leu Missense 37/49 - 1
12-133219152-C-T c.4892G>A p.Arg1631His Missense 37/49 - 1
12-133219156-G-A c.4888C>T p.Arg1630Trp Missense 37/49 - 1
12-133219167-C-T c.4877G>A p.Arg1626His Missense 37/49 - 1
12-133219173-C-T c.4871G>A p.Trp1624* Nonsense 37/49 - 1
12-133219189-A-G c.4855T>C p.Tyr1619His Missense 37/49 - 2
12-133219194-AT-CC c.4849_4850delinsGG p.Ile1617Gly Missense 37/49 - 1
12-133219207-C-T c.4837G>A p.Val1613Met Missense 37/49 - 1
12-133219243-G-A c.4801C>T p.Pro1601Ser Missense 37/49 - 1
12-133219251-C-A c.4793G>T p.Ser1598Ile Missense 37/49 - 1
12-133219254-G-C c.4790C>G p.Ala1597Gly Missense 37/49 - 1
12-133219260-CCTCTTCAGC-C c.4780_4788del p.Lys1594_Leu1596del InFrameDeletion 37/49 - 1
12-133219272-C-T c.4772G>A p.Trp1591* Nonsense 37/49 - 1
12-133219288-C-T c.4756G>A p.Ala1586Thr Missense 37/49 - 1
12-133219294-G-C c.4750C>G p.Leu1584Val Missense 37/49 - 1
12-133219305-C-T c.4739G>A p.Arg1580Gln Missense 37/49 - 1
12-133219313-C-G c.4731G>C p.Glu1577Asp Missense 37/49 - 1
12-133219314-T-G c.4730A>C p.Glu1577Ala Missense 37/49 - 2
12-133219405-C-A c.4728+1G>T - IntronicSNV - 36/48 1
12-133219425-C-T c.4709G>A p.Arg1570Gln Missense 36/49 - 1
12-133219438-T-C c.4696A>G p.Arg1566Gly Missense 36/49 - 1
12-133219452-A-G c.4682T>C p.Leu1561Pro Missense 36/49 - 2
12-133219465-C-T c.4669G>A p.Ala1557Thr Missense 36/49 - 1
12-133219468-G-A c.4666C>T p.Arg1556Trp Missense 36/49 - 2
12-133219474-C-T c.4660G>A p.Glu1554Lys Missense 36/49 - 1
12-133219485-T-C c.4649A>G p.Lys1550Arg Missense 36/49 - 1
12-133219495-G-A c.4639C>T p.Pro1547Ser Missense 36/49 - 2
12-133219508-GG-G c.4628del p.Pro1543Leufs*19 Frameshift 36/49 - 1
12-133219510-C-T c.4624G>A p.Gly1542Ser Missense 36/49 - 1
12-133219536-CT-C c.4598del p.Glu1533Glyfs*29 Frameshift 36/49 - 1
12-133219542-G-C c.4592C>G p.Ser1531* Nonsense 36/49 - 1
12-133219542-G-T c.4592C>A p.Ser1531* Nonsense 36/49 - 1
12-133219565-C-G c.4569G>C p.Met1523Ile Missense 36/49 - 1
12-133219575-C-T c.4559G>A p.Ser1520Asn Missense 36/49 - 1
12-133219579-G-A c.4555C>T p.Arg1519Cys Missense 36/49 - 2
12-133219820-A-G c.4541T>C p.Val1514Ala Missense 35/49 - 2
12-133219827-C-T c.4534G>A p.Val1512Ile Missense 35/49 - 1
12-133219831-T-C c.4530A>G p.Ala1510Ala Synonymous 35/49 - 5
12-133219838-C-T c.4523G>A p.Arg1508His Missense 35/49 - 1
12-133219839-G-A c.4522C>T p.Arg1508Cys Missense 35/49 - 2
12-133219839-G-C c.4522C>G p.Arg1508Gly Missense 35/49 - 1
12-133219848-G-A c.4513C>T p.Pro1505Ser Missense 35/49 - 1
12-133219857-T-C c.4504A>G p.Ile1502Val Missense 35/49 - 1
12-133219868-G-A c.4493C>T p.Ala1498Val Missense 35/49 - 1
12-133219871-T-C c.4490A>G p.Lys1497Arg Missense 35/49 - 1
12-133219880-T-C c.4481A>G p.Gln1494Arg Missense 35/49 - 1
12-133219881-G-A c.4480C>T p.Gln1494* Nonsense 35/49 - 1
12-133219887-G-A c.4474C>T p.His1492Tyr Missense 35/49 - 1
12-133219911-T-A c.4450A>T p.Ile1484Phe Missense 35/49 - 1
12-133219913-CT-GT c.4448delinsC p.Ser1483Thr Missense 35/49 - 2
12-133219914-T-C c.4447A>G p.Ser1483Gly Missense 35/49 - 1
12-133219989-A-T c.4444+4T>A - IntronicSNV - 34/48 2
12-133219990-T-C c.4444+3A>G - IntronicSNV - 34/48 2
12-133219999-C-T c.4438G>A p.Glu1480Lys Missense 34/49 - 1
12-133220007-GC-G c.4430del p.Ser1477Thrfs*85 Frameshift 34/49 - 1
12-133220010-A-C c.4427T>G p.Phe1476Cys Missense 34/49 - 1
12-133220019-A-G c.4418T>C p.Leu1473Pro Missense 34/49 - 1
12-133220025-C-T c.4412G>A p.Arg1471His Missense 34/49 - 1
12-133220026-G-A c.4411C>T p.Arg1471Cys Missense 34/49 - 2
12-133220037-T-A c.4400A>T p.His1467Leu Missense 34/49 - 1
12-133220055-T-A c.4382A>T p.Glu1461Val Missense 34/49 - 1
12-133220056-C-A c.4381G>T p.Glu1461* Nonsense 34/49 - 1
12-133220056-C-G c.4381G>C p.Glu1461Gln Missense 34/49 - 1
12-133220082-A-G c.4355T>C p.Val1452Ala Missense 34/49 - 2
12-133220086-AG-A c.4351del p.Leu1451Trpfs*2 Frameshift 34/49 - 1
12-133220107-C-A c.4330G>T p.Val1444Leu Missense 34/49 - 1
12-133220107-C-G c.4330G>C p.Val1444Leu Missense 34/49 - 1
12-133220107-C-T c.4330G>A p.Val1444Met Missense 34/49 - 1
12-133220109-ACA-A c.4337_4338del p.Val1446Glyfs*3 Frameshift 34/49 - 3
12-133220130-C-T c.4307G>A p.Arg1436Gln Missense 34/49 - 1
12-133220131-G-A c.4306C>T p.Arg1436Trp Missense 34/49 - 1
12-133220142-G-A c.4295C>T p.Pro1432Leu Missense 34/49 - 1
12-133220143-G-A c.4294C>T p.Pro1432Ser Missense 34/49 - 1
12-133220143-G-T c.4294C>A p.Pro1432Thr Missense 34/49 - 1
12-133220418-G-A c.4290+5C>T - IntronicSNV - 33/48 1
12-133220437-C-A c.4276G>T p.Val1426Leu Missense 33/49 - 1
12-133220437-C-G c.4276G>C p.Val1426Leu Missense 33/49 - 1
12-133220437-C-T c.4276G>A p.Val1426Ile Missense 33/49 - 2
12-133220442-T-C c.4271A>G p.Glu1424Gly Missense 33/49 - 1
12-133220446-T-A c.4267A>T p.Ile1423Phe Missense 33/49 - 1
12-133220446-T-C c.4267A>G p.Ile1423Val Missense 33/49 - 1
12-133220452-G-A c.4261C>T p.Pro1421Ser Missense 33/49 - 3
12-133220452-G-T c.4261C>A p.Pro1421Thr Missense 33/49 - 1
12-133220464-C-T c.4249G>A p.Glu1417Lys Missense 33/49 - 1
12-133220482-T-C c.4231A>G p.Ile1411Val Missense 33/49 - 1
12-133220482-T-G c.4231A>C p.Ile1411Leu Missense 33/49 - 1
12-133220501-C-G c.4212G>C p.Glu1404Asp Missense 33/49 - 1
12-133220518-C-G c.4195G>C p.Glu1399Gln Missense 33/49 - 1
12-133220518-C-T c.4195G>A p.Glu1399Lys Missense 33/49 - 1
12-133220519-A-C c.4194T>G p.Tyr1398* Nonsense 33/49 - 1
12-133220519-A-T c.4194T>A p.Tyr1398* Nonsense 33/49 - 1
12-133220520-T-C c.4193A>G p.Tyr1398Cys Missense 33/49 - 1
12-133220523-A-C c.4190T>G p.Leu1397Arg Missense 33/49 - 1
12-133220526-T-C c.4187A>G p.Asn1396Ser Missense 33/49 - 13
12-133220544-C-T c.4169G>A p.Arg1390His Missense 33/49 - 1
12-133220556-C-T c.4157G>A p.Arg1386Gln Missense 33/49 - 1
12-133220557-G-A c.4156C>T p.Arg1386Trp Missense 33/49 - 1
12-133220557-G-C c.4156C>G p.Arg1386Gly Missense 33/49 - 1
12-133220670-G-A c.4150-107C>T - IntronicSNV - 32/48 1
12-133222176-TGTTGCTAAAACAAACAAACAAAAAAACCTGACACGCTAAAGGATTTTTAAAAATACCCA-T c.4150-1671_4150-1613del - Unclassified - 32/48 1
12-133225520-G-A c.4144C>T p.Arg1382Cys Missense 32/49 - 3
12-133225525-G-A c.4139C>T p.Ser1380Leu Missense 32/49 - 2
12-133225531-C-T c.4133G>A p.Gly1378Asp Missense 32/49 - 1
12-133225540-G-A c.4124C>T p.Ala1375Val Missense 32/49 - 1
12-133225541-C-A c.4123G>T p.Ala1375Ser Missense 32/49 - 1
12-133225541-C-T c.4123G>A p.Ala1375Thr Missense 32/49 - 1
12-133225546-G-A c.4118C>T p.Ala1373Val Missense 32/49 - 1
12-133225553-G-A c.4111C>T p.Arg1371* Nonsense 32/49 - 2
12-133225556-G-A c.4108C>T p.Gln1370* Nonsense 32/49 - 1
12-133225562-C-T c.4102G>A p.Val1368Met Missense 32/49 - 4
12-133225573-C-T c.4091G>A p.Arg1364His Missense 32/49 - 1
12-133225574-G-A c.4090C>T p.Arg1364Cys Missense 32/49 - 2
12-133225578-G-GG c.4090dup p.Arg1364Profs*11 Frameshift 32/49 - 1
12-133225615-A-G c.4049T>C p.Leu1350Pro Missense 32/49 - 1
12-133225620-C-T c.4044G>A p.Trp1348* Nonsense 32/49 - 1
12-133225633-A-G c.4031T>C p.Leu1344Pro Missense 32/49 - 1
12-133225637-C-T c.4027G>A p.Gly1343Ser Missense 32/49 - 2
12-133225641-C-A c.4023G>T p.Gln1341His Missense 32/49 - 1
12-133225641-C-G c.4023G>C p.Gln1341His Missense 32/49 - 1
12-133225713-C-A c.4006-55G>T - IntronicSNV - 31/48 2
12-133225713-C-T c.4006-55G>A - IntronicSNV - 31/48 2
12-133225892-C-A c.4005G>T p.Gln1335His Missense 31/49 - 1
12-133225892-C-G c.4005G>C p.Gln1335His Missense 31/49 - 1
12-133225894-G-A c.4003C>T p.Gln1335* Nonsense 31/49 - 1
12-133225902-T-C c.3995A>G p.Gln1332Arg Missense 31/49 - 1
12-133225924-CTGC-C c.3974_3976del p.Ser1325del InFrameDeletion 31/49 - 2
12-133225926-C-T c.3971G>A p.Arg1324His Missense 31/49 - 1
12-133225927-G-A c.3970C>T p.Arg1324Cys Missense 31/49 - 1
12-133225933-T-C c.3964A>G p.Thr1322Ala Missense 31/49 - 1
12-133225935-C-G c.3962G>C p.Arg1321Thr Missense 31/49 - 1
12-133225935-C-T c.3962G>A p.Arg1321Lys Missense 31/49 - 1
12-133225936-T-A c.3961A>T p.Arg1321* Nonsense 31/49 - 1
12-133225936-T-C c.3961A>G p.Arg1321Gly Missense 31/49 - 1
12-133225939-G-A c.3958C>T p.Arg1320* Nonsense 31/49 - 1
12-133225941-A-G c.3956T>C p.Leu1319Ser Missense 31/49 - 1
12-133225942-A-C c.3955T>G p.Leu1319Val Missense 31/49 - 1
12-133225950-C-T c.3947G>A p.Gly1316Glu Missense 31/49 - 2
12-133225954-G-T c.3943C>A p.Leu1315Met Missense 31/49 - 1
12-133225981-C-T c.3916G>A p.Ala1306Thr Missense 31/49 - 1
12-133225992-A-G c.3905T>C p.Leu1302Pro Missense 31/49 - 1
12-133226002-C-G c.3895G>C p.Glu1299Gln Missense 31/49 - 2
12-133226002-C-T c.3895G>A p.Glu1299Lys Missense 31/49 - 1
12-133226003-TGC-TGT c.3892delinsA p.Ala1298Thr Missense 31/49 - 2
12-133226007-G-A c.3890C>T p.Ser1297Leu Missense 31/49 - 1
12-133226014-G-T c.3883C>A p.Leu1295Met Missense 31/49 - 1
12-133226016-C-T c.3881G>A p.Arg1294His Missense 31/49 - 2
12-133226032-G-A c.3865C>T p.Arg1289Cys Missense 31/49 - 1
12-133226035-C-T c.3862G>A p.Ala1288Thr Missense 31/49 - 1
12-133226040-C-T c.3857G>A p.Arg1286His Missense 31/49 - 1
12-133226041-G-A c.3856C>T p.Arg1286Cys Missense 31/49 - 2
12-133226044-G-T c.3853C>A p.Gln1285Lys Missense 31/49 - 1
12-133226046-C-T c.3851G>A p.Arg1284Gln Missense 31/49 - 2
12-133226047-G-A c.3850C>T p.Arg1284Trp Missense 31/49 - 1
12-133226047-G-C c.3850C>G p.Arg1284Gly Missense 31/49 - 1
12-133226064-T-C c.3833A>G p.Lys1278Arg Missense 31/49 - 1
12-133226088-A-C c.3809T>G p.Val1270Gly Missense 31/49 - 1
12-133226093-C-T c.3804G>A p.Trp1268* Nonsense 31/49 - 1
12-133226196-G-A c.3795+67C>T - IntronicSNV - 30/48 2
12-133226288-T-A c.3770A>T p.Gln1257Leu Missense 30/49 - 1
12-133226288-T-G c.3770A>C p.Gln1257Pro Missense 30/49 - 1
12-133226291-C-T c.3767G>A p.Gly1256Glu Missense 30/49 - 1
12-133226295-A-C c.3763T>G p.Leu1255Val Missense 30/49 - 3
12-133226318-G-C c.3740C>G p.Pro1247Arg Missense 30/49 - 1
12-133226324-A-T c.3734T>A p.Leu1245His Missense 30/49 - 1
12-133226328-C-A c.3730G>T p.Asp1244Tyr Missense 30/49 - 1
12-133226333-G-A c.3725C>T p.Ser1242Phe Missense 30/49 - 1
12-133226333-G-C c.3725C>G p.Ser1242Cys Missense 30/49 - 1
12-133226337-C-G c.3721G>C p.Glu1241Gln Missense 30/49 - 1
12-133226340-C-T c.3718G>A p.Glu1240Lys Missense 30/49 - 3
12-133226355-G-T c.3703C>A p.Leu1235Ile Missense 30/49 - 3
12-133226375-G-C c.3683C>G p.Thr1228Ser Missense 30/49 - 1
12-133226379-C-A c.3679G>T p.Val1227Phe Missense 30/49 - 1
12-133226388-C-T c.3670G>A p.Ala1224Thr Missense 30/49 - 2
12-133226393-GT-G c.3665del p.His1222Profs*8 Frameshift 30/49 - 1
12-133226403-T-G c.3655A>C p.Lys1219Gln Missense 30/49 - 1
12-133226406-C-A c.3652G>T p.Val1218Leu Missense 30/49 - 1
12-133226406-C-G c.3652G>C p.Val1218Leu Missense 30/49 - 1
12-133226406-C-T c.3652G>A p.Val1218Ile Missense 30/49 - 1
12-133226413-G-C c.3645C>G p.Phe1215Leu Missense 30/49 - 2
12-133226413-G-T c.3645C>A p.Phe1215Leu Missense 30/49 - 2
12-133226415-A-G c.3643T>C p.Phe1215Leu Missense 30/49 - 2
12-133226416-G-C c.3642C>G p.Asp1214Glu Missense 30/49 - 1
12-133226416-G-T c.3642C>A p.Asp1214Glu Missense 30/49 - 1
12-133226421-C-G c.3637G>C p.Glu1213Gln Missense 30/49 - 1
12-133226439-G-A c.3619C>T p.Pro1207Ser Missense 30/49 - 1
12-133226442-T-A c.3616A>T p.Arg1206Trp Missense 30/49 - 1
12-133226448-T-TA c.3609_3610insT p.Ser1204* Nonsense 30/49 - 1
12-133226451-C-T c.3607G>A p.Asp1203Asn Missense 30/49 - 1
12-133226460-C-T c.3598G>A p.Ala1200Thr Missense 30/49 - 1
12-133226461-C-A c.3597G>T p.Glu1199Asp Missense 30/49 - 1
12-133226461-C-G c.3597G>C p.Glu1199Asp Missense 30/49 - 1
12-133226465-G-A c.3593C>T p.Ala1198Val Missense 30/49 - 1
12-133226831-C-A c.3583-356G>T - IntronicSNV - 29/48 4
12-133226831-C-T c.3583-356G>A - IntronicSNV - 29/48 4
12-133228453-C-T c.3583-1978G>A - IntronicSNV - 29/48 1
12-133231048-T-C c.3582+2674A>G - IntronicSNV - 29/48 4
12-133232405-C-G c.3582+1317G>C - IntronicSNV - 29/48 1
12-133232405-C-T c.3582+1317G>A - IntronicSNV - 29/48 1
12-133233705-T-C c.3582+17A>G - IntronicSNV - 29/48 1
12-133233726-C-A c.3578G>T p.Arg1193Ile Missense 29/49 - 1
12-133233726-C-T c.3578G>A p.Arg1193Lys Missense 29/49 - 1
12-133233777-T-C c.3527A>G p.Asp1176Gly Missense 29/49 - 1
12-133233786-T-C c.3518A>G p.Glu1173Gly Missense 29/49 - 1
12-133233813-G-A c.3491C>T p.Pro1164Leu Missense 29/49 - 3
12-133233814-G-A c.3490C>T p.Pro1164Ser Missense 29/49 - 1
12-133233816-T-TT c.3488dup p.His1163Glnfs*14 Frameshift 29/49 - 1
12-133233825-C-T c.3479G>A p.Arg1160His Missense 29/49 - 2
12-133233826-G-A c.3478C>T p.Arg1160Cys Missense 29/49 - 1
12-133233829-G-A c.3475C>T p.Pro1159Ser Missense 29/49 - 1
12-133233829-GGCA-G c.3473_3475del p.Val1158_Pro1159delinsAla MultiAAMissense 29/49 - 1
12-133233835-G-C c.3469C>G p.Pro1157Ala Missense 29/49 - 2
12-133233934-C-T c.3459+1G>A - IntronicSNV - 28/48 1
12-133233943-G-T c.3451C>A p.Leu1151Met Missense 28/49 - 1
12-133233948-G-A c.3446C>T p.Ala1149Val Missense 28/49 - 2
12-133233962-TGAT-T c.3434_3436del p.Ile1145del InFrameDeletion 28/49 - 1
12-133233970-G-A c.3424C>T p.Gln1142* Nonsense 28/49 - 1
12-133233976-C-T c.3418G>A p.Ala1140Thr Missense 28/49 - 3
12-133233989-C-A c.3405G>T p.Glu1135Asp Missense 28/49 - 2
12-133233994-T-A c.3400A>T p.Ile1134Phe Missense 28/49 - 1
12-133234001-G-C c.3393C>G p.Asp1131Glu Missense 28/49 - 1
12-133234001-G-T c.3393C>A p.Asp1131Glu Missense 28/49 - 1
12-133234002-T-C c.3392A>G p.Asp1131Gly Missense 28/49 - 1
12-133234003-C-T c.3391G>A p.Asp1131Asn Missense 28/49 - 1
12-133234008-T-C c.3386A>G p.Asp1129Gly Missense 28/49 - 2
12-133234444-T-C c.3378+10A>G - IntronicSNV - 27/48 1
12-133234465-C-T c.3367G>A p.Asp1123Asn Missense 27/49 - 2
12-133234471-C-T c.3361G>A p.Asp1121Asn Missense 27/49 - 1
12-133234479-G-A c.3353C>T p.Ser1118Phe Missense 27/49 - 1
12-133234486-T-G c.3346A>C p.Ser1116Arg Missense 27/49 - 1
12-133234494-C-T c.3338G>A p.Trp1113* Nonsense 27/49 - 1
12-133234500-C-T c.3332G>A p.Arg1111Gln Missense 27/49 - 1
12-133234501-G-A c.3331C>T p.Arg1111Trp Missense 27/49 - 1
12-133234509-T-A c.3323A>T p.His1108Leu Missense 27/49 - 1
12-133234520-C-CT c.3311_3312insA p.Val1105Glyfs*19 Frameshift 27/49 - 1
12-133234521-G-A c.3311C>T p.Thr1104Met Missense 27/49 - 3
12-133234534-G-A c.3298C>T p.Gln1100* Nonsense 27/49 - 1
12-133234536-A-G c.3296T>C p.Phe1099Ser Missense 27/49 - 1
12-133234542-G-A c.3290C>T p.Ala1097Val Missense 27/49 - 1
12-133234549-G-A c.3283C>T p.Pro1095Ser Missense 27/49 - 1
12-133235332-T-G c.3275+549A>C - IntronicSNV - 26/48 2
12-133235879-CACCTCTCCGTGACAGGGGAGCCCTC-C c.3264_3275+13del - SpliceDonorDeletion 26/49 26/48 1
12-133235900-C-T c.3256G>A p.Gly1086Ser Missense 26/49 - 1
12-133235903-C-A c.3253G>T p.Glu1085* Nonsense 26/49 - 1
12-133235903-C-T c.3253G>A p.Glu1085Lys Missense 26/49 - 1
12-133235909-T-G c.3247A>C p.Lys1083Gln Missense 26/49 - 1
12-133235927-G-A c.3229C>T p.Arg1077Cys Missense 26/49 - 1
12-133235927-G-C c.3229C>G p.Arg1077Gly Missense 26/49 - 1
12-133235942-C-T c.3214G>A p.Ala1072Thr Missense 26/49 - 1
12-133235945-C-G c.3211G>C p.Asp1071His Missense 26/49 - 1
12-133235946-C-A c.3210G>T p.Lys1070Asn Missense 26/49 - 1
12-133235980-C-A c.3176G>T p.Arg1059Leu Missense 26/49 - 1
12-133236000-C-A c.3156G>T p.Thr1052Thr Synonymous 26/49 - 2
12-133236000-C-G c.3156G>C p.Thr1052Thr Synonymous 26/49 - 2
12-133236000-C-T c.3156G>A p.Thr1052Thr Synonymous 26/49 - 7
12-133236001-G-A c.3155C>T p.Thr1052Met Missense 26/49 - 3
12-133236009-C-A c.3147G>T p.Gln1049His Missense 26/49 - 1
12-133236034-C-T c.3122G>A p.Arg1041Gln Missense 26/49 - 1
12-133236062-G-A c.3094C>T p.Leu1032Phe Missense 26/49 - 1
12-133236079-GT-G c.3077del p.Asp1026Alafs*49 Frameshift 26/49 - 1
12-133236094-G-T c.3062C>A p.Ala1021Glu Missense 26/49 - 1
12-133236746-C-T c.3061-651G>A - IntronicSNV - 25/48 2
12-133237559-C-A c.3056G>T p.Ser1019Ile Missense 25/49 - 1
12-133237560-T-A c.3055A>T p.Ser1019Cys Missense 25/49 - 1
12-133237560-T-C c.3055A>G p.Ser1019Gly Missense 25/49 - 1
12-133237569-C-T c.3046G>A p.Val1016Met Missense 25/49 - 2
12-133237587-C-T c.3028G>A p.Ala1010Thr Missense 25/49 - 1
12-133237591-C-A c.3024G>T p.Lys1008Asn Missense 25/49 - 4
12-133237591-C-G c.3024G>C p.Lys1008Asn Missense 25/49 - 4
12-133237596-C-G c.3019G>C p.Ala1007Pro Missense 25/49 - 1
12-133237610-A-G c.3005T>C p.Val1002Ala Missense 25/49 - 1
12-133237641-C-T c.2974G>A p.Ala992Thr Missense 25/49 - 3
12-133237644-C-G c.2971G>C p.Glu991Gln Missense 25/49 - 1
12-133237646-A-C c.2969T>G p.Phe990Cys Missense 25/49 - 1
12-133237655-G-A c.2960C>T p.Ser987Phe Missense 25/49 - 1
12-133237676-T-G c.2939A>C p.Gln980Pro Missense 25/49 - 1
12-133237680-G-A c.2935C>T p.Leu979Leu Synonymous 25/49 - 1
12-133237682-T-TT c.2934dup p.Leu979Thrfs*5 Frameshift 25/49 - 1
12-133237688-C-T c.2927G>A p.Arg976His Missense 25/49 - 1
12-133237689-G-A c.2926C>T p.Arg976Cys Missense 25/49 - 1
12-133237689-G-T c.2926C>A p.Arg976Ser Missense 25/49 - 3
12-133237692-G-A c.2923C>T p.Arg975Cys Missense 25/49 - 1
12-133237718-G-A c.2897C>T p.Ala966Val Missense 25/49 - 1
12-133237720-C-G c.2895G>C p.Leu965Leu Synonymous 25/49 - 1
12-133237736-T-G c.2879A>C p.Asn960Thr Missense 25/49 - 1
12-133237745-G-A c.2870C>T p.Ala957Val Missense 25/49 - 2
12-133237745-G-C c.2870C>G p.Ala957Gly Missense 25/49 - 2
12-133237748-T-A c.2867A>T p.Tyr956Phe Missense 25/49 - 2
12-133238076-T-C c.2864+37A>G - IntronicSNV - 24/48 1
12-133238135-C-A c.2842G>T p.Glu948* Nonsense 24/49 - 1
12-133238135-C-G c.2842G>C p.Glu948Gln Missense 24/49 - 1
12-133238177-C-G c.2800G>C p.Asp934His Missense 24/49 - 1
12-133238194-C-A c.2783G>T p.Ser928Ile Missense 24/49 - 2
12-133238254-T-C c.2723A>G p.Asp908Gly Missense 24/49 - 2
12-133238260-G-A c.2717C>T p.Thr906Ile Missense 24/49 - 1
12-133240613-C-A c.2683G>T p.Ala895Ser Missense 23/49 - 1
12-133240613-C-T c.2683G>A p.Ala895Thr Missense 23/49 - 4
12-133240618-G-A c.2678C>T p.Pro893Leu Missense 23/49 - 1
12-133240640-G-A c.2656C>T p.Pro886Ser Missense 23/49 - 1
12-133240651-T-A c.2645A>T p.Asn882Ile Missense 23/49 - 1
12-133240651-T-C c.2645A>G p.Asn882Ser Missense 23/49 - 1
12-133240657-G-A c.2639C>T p.Thr880Met Missense 23/49 - 2
12-133240657-G-T c.2639C>A p.Thr880Lys Missense 23/49 - 1
12-133240661-T-C c.2635A>G p.Lys879Glu Missense 23/49 - 1
12-133240678-G-A c.2618C>T p.Pro873Leu Missense 23/49 - 1
12-133240678-G-T c.2618C>A p.Pro873Gln Missense 23/49 - 1
12-133240694-G-T c.2602C>A p.Leu868Met Missense 23/49 - 4
12-133240962-T-C c.2555A>G p.Gln852Arg Missense 22/49 - 1
12-133240973-C-G c.2544G>C p.Glu848Asp Missense 22/49 - 1
12-133240977-C-T c.2540G>A p.Arg847Gln Missense 22/49 - 1
12-133240980-TG-T c.2537del p.Ala846Aspfs*4 Frameshift 22/49 - 1
12-133240984-G-A c.2533C>T p.Gln845* Nonsense 22/49 - 1
12-133240990-T-C c.2527A>G p.Ile843Val Missense 22/49 - 1
12-133241023-C-T c.2494G>A p.Ala832Thr Missense 22/49 - 5
12-133241039-ACCAGCGAGCCCTGAGAGGACACCACAAACTGGTGGGTGGGGCTGGCATGGCTCCTCCAG-A c.2469-49_2478del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 22/49 21/48 1
12-133241046-G-A c.2471C>T p.Ala824Val Missense 22/49 - 1
12-133241050-T-C c.2469-2A>G - IntronicSNV - 21/48 1
12-133241058-C-T c.2469-10G>A - IntronicSNV - 21/48 1
12-133241895-G-A c.2461C>T p.Arg821Cys Missense 21/49 - 1
12-133241895-G-T c.2461C>A p.Arg821Ser Missense 21/49 - 1
12-133241897-A-G c.2459T>C p.Met820Thr Missense 21/49 - 2
12-133241903-T-C c.2453A>G p.Tyr818Cys Missense 21/49 - 1
12-133241904-A-G c.2452T>C p.Tyr818His Missense 21/49 - 1
12-133241911-G-T c.2445C>A p.Phe815Leu Missense 21/49 - 3
12-133241912-A-G c.2444T>C p.Phe815Ser Missense 21/49 - 2
12-133241958-G-A c.2398C>T p.Leu800Leu Synonymous 21/49 - 1
12-133241978-C-T c.2378G>A p.Arg793His Missense 21/49 - 1
12-133241979-G-A c.2377C>T p.Arg793Cys Missense 21/49 - 1
12-133241982-T-TT c.2375dup p.Arg793Alafs*10 Frameshift 21/49 - 1
12-133241988-C-A c.2368G>T p.Glu790* Nonsense 21/49 - 1
12-133241988-C-G c.2368G>C p.Glu790Gln Missense 21/49 - 1
12-133241994-C-T c.2362G>A p.Ala788Thr Missense 21/49 - 1
12-133242004-C-A c.2352G>T p.Glu784Asp Missense 21/49 - 1
12-133242004-C-G c.2352G>C p.Glu784Asp Missense 21/49 - 1
12-133242011-G-A c.2345C>T p.Ala782Val Missense 21/49 - 1
12-133242015-C-A c.2341G>T p.Ala781Ser Missense 21/49 - 1
12-133242017-G-T c.2339C>A p.Ser780* Nonsense 21/49 - 1
12-133242025-C-A c.2331G>T p.Lys777Asn Missense 21/49 - 3
12-133242025-C-G c.2331G>C p.Lys777Asn Missense 21/49 - 3
12-133242031-C-T c.2325G>A p.Trp775* Nonsense 21/49 - 1
12-133242032-C-A c.2324G>T p.Trp775Leu Missense 21/49 - 1
12-133242733-C-A c.2320-697G>T - IntronicSNV - 20/48 1
12-133242733-C-T c.2320-697G>A - IntronicSNV - 20/48 1
12-133243621-A-G c.2319+468T>C - IntronicSNV - 20/48 3
12-133243788-T-A c.2319+301A>T - IntronicSNV - 20/48 1
12-133243788-T-C c.2319+301A>G - IntronicSNV - 20/48 1
12-133244100-C-A c.2308G>T p.Gly770Trp Missense 20/49 - 1
12-133244105-A-G c.2303T>C p.Phe768Ser Missense 20/49 - 1
12-133244107-C-A c.2301G>T p.Glu767Asp Missense 20/49 - 1
12-133244107-C-G c.2301G>C p.Glu767Asp Missense 20/49 - 1
12-133244111-T-TT c.2297dup p.Tyr766* Nonsense 20/49 - 1
12-133244117-C-A c.2291G>T p.Arg764Met Missense 20/49 - 1
12-133244123-C-T c.2285G>A p.Arg762Gln Missense 20/49 - 1
12-133244124-G-A c.2284C>T p.Arg762Trp Missense 20/49 - 8
12-133244129-G-A c.2279C>T p.Ala760Val Missense 20/49 - 1
12-133244132-C-T c.2276G>A p.Arg759His Missense 20/49 - 1
12-133244133-G-A c.2275C>T p.Arg759Cys Missense 20/49 - 1
12-133244137-G-T c.2271C>A p.Thr757Thr Synonymous 20/49 - 1
12-133244162-C-T c.2246G>A p.Arg749Gln Missense 20/49 - 1
12-133244175-T-C c.2233A>G p.Thr745Ala Missense 20/49 - 1
12-133244183-C-T c.2225G>A p.Arg742His Missense 20/49 - 2
12-133244184-G-A c.2224C>T p.Arg742Cys Missense 20/49 - 3
12-133244205-G-A c.2203C>T p.His735Tyr Missense 20/49 - 1
12-133244209-C-A c.2199G>T p.Lys733Asn Missense 20/49 - 1
12-133244213-TT-GC c.2194_2195delinsGC p.Lys732Ala Missense 20/49 - 1
12-133244226-G-A c.2182C>T p.Arg728Trp Missense 20/49 - 1
12-133244231-T-A c.2177A>T p.Tyr726Phe Missense 20/49 - 1
12-133244944-G-A c.2171C>T p.Ala724Val Missense 19/49 - 5
12-133244944-G-T c.2171C>A p.Ala724Glu Missense 19/49 - 1
12-133244945-C-T c.2170G>A p.Ala724Thr Missense 19/49 - 1
12-133244954-T-A c.2161A>T p.Arg721* Nonsense 19/49 - 1
12-133244964-T-A c.2151A>T p.Lys717Asn Missense 19/49 - 1
12-133244964-T-G c.2151A>C p.Lys717Asn Missense 19/49 - 1
12-133244971-T-C c.2144A>G p.Gln715Arg Missense 19/49 - 1
12-133244980-C-T c.2135G>A p.Arg712His Missense 19/49 - 1
12-133244984-A-G c.2131T>C p.Ser711Pro Missense 19/49 - 1
12-133244993-G-A c.2122C>T p.His708Tyr Missense 19/49 - 1
12-133244996-A-G c.2119T>C p.Phe707Leu Missense 19/49 - 1
12-133245002-G-A c.2113C>T p.Arg705Trp Missense 19/49 - 1
12-133245002-G-C c.2113C>G p.Arg705Gly Missense 19/49 - 1
12-133245009-C-A c.2106G>T p.Gly702Gly Synonymous 19/49 - 1
12-133245025-G-C c.2090C>G p.Pro697Arg Missense 19/49 - 3
12-133245026-G-C c.2089C>G p.Pro697Ala Missense 19/49 - 5
12-133245028-G-A c.2087C>T p.Pro696Leu Missense 19/49 - 1
12-133245028-G-C c.2087C>G p.Pro696Arg Missense 19/49 - 1
12-133245030-G-GG c.2091dup p.Phe699Valfs*11 Frameshift 19/49 - 3
12-133245031-A-T c.2084T>A p.Phe695Tyr Missense 19/49 - 1
12-133245032-A-C c.2083T>G p.Phe695Val Missense 19/49 - 2
12-133245032-A-G c.2083T>C p.Phe695Leu Missense 19/49 - 2
12-133245032-A-T c.2083T>A p.Phe695Ile Missense 19/49 - 4
12-133245038-C-A c.2077G>T p.Glu693* Nonsense 19/49 - 1
12-133245038-C-G c.2077G>C p.Glu693Gln Missense 19/49 - 1
12-133245048-C-A c.2067G>T p.Gln689His Missense 19/49 - 1
12-133245050-G-A c.2065C>T p.Gln689* Nonsense 19/49 - 1
12-133245056-G-A c.2059C>T p.Gln687* Nonsense 19/49 - 1
12-133245061-C-G c.2054G>C p.Arg685Pro Missense 19/49 - 1
12-133245062-G-A c.2053C>T p.Arg685Trp Missense 19/49 - 2
12-133245066-G-C c.2049C>G p.Tyr683* Nonsense 19/49 - 1
12-133245067-T-C c.2048A>G p.Tyr683Cys Missense 19/49 - 1
12-133245072-G-C c.2043C>G p.Ser681Arg Missense 19/49 - 1
12-133245072-G-T c.2043C>A p.Ser681Arg Missense 19/49 - 1
12-133245074-T-G c.2041A>C p.Ser681Arg Missense 19/49 - 1
12-133245087-C-T c.2028G>A p.Met676Ile Missense 19/49 - 1
12-133245231-C-G c.2016G>C p.Arg672Ser Missense 18/49 - 1
12-133245238-T-C c.2009A>G p.Gln670Arg Missense 18/49 - 1
12-133245240-C-T c.2007G>A p.Trp669* Nonsense 18/49 - 1
12-133245241-C-T c.2006G>A p.Trp669* Nonsense 18/49 - 1
12-133245254-G-A c.1993C>T p.Arg665Trp Missense 18/49 - 1
12-133245259-GCAGT-G c.1985_1988del p.Asn662Thrfs*129 Frameshift 18/49 - 1
12-133245301-G-T c.1946C>A p.Ala649Asp Missense 18/49 - 1
12-133245312-C-A c.1935G>T p.Met645Ile Missense 18/49 - 1
12-133245312-C-G c.1935G>C p.Met645Ile Missense 18/49 - 1
12-133245312-C-T c.1935G>A p.Met645Ile Missense 18/49 - 1
12-133245397-C-A c.1923G>T p.Gln641His Missense 17/49 - 1
12-133245402-G-A c.1918C>T p.Leu640Leu Synonymous 17/49 - 1
12-133245402-G-C c.1918C>G p.Leu640Val Missense 17/49 - 1
12-133245404-C-T c.1916G>A p.Arg639His Missense 17/49 - 1
12-133245405-G-A c.1915C>T p.Arg639Cys Missense 17/49 - 1
12-133245406-G-C c.1914C>G p.Asn638Lys Missense 17/49 - 1
12-133245425-G-C c.1895C>G p.Pro632Arg Missense 17/49 - 1
12-133245431-AT-GG c.1888_1889delinsCC p.Met630Pro Missense 17/49 - 1
12-133245434-G-T c.1886C>A p.Ala629Asp Missense 17/49 - 1
12-133245438-C-G c.1882G>C p.Gly628Arg Missense 17/49 - 1
12-133245438-C-T c.1882G>A p.Gly628Arg Missense 17/49 - 1
12-133245439-CC-C c.1885del p.Ala629Profs*8 Frameshift 17/49 - 1
12-133245443-T-C c.1877A>G p.Asp626Gly Missense 17/49 - 1
12-133245458-A-G c.1862T>C p.Leu621Pro Missense 17/49 - 1
12-133245459-G-A c.1861C>T p.Leu621Phe Missense 17/49 - 1
12-133245473-C-T c.1847G>A p.Arg616His Missense 17/49 - 1
12-133245483-C-T c.1837G>A p.Val613Ile Missense 17/49 - 1
12-133245494-G-A c.1826C>T p.Ser609Phe Missense 17/49 - 1
12-133245497-G-A c.1823C>T p.Ala608Val Missense 17/49 - 1
12-133248806-C-CT c.1788_1789insA p.Glu597Argfs*5 Frameshift 16/49 - 1
12-133248820-T-C c.1775A>G p.Gln592Arg Missense 16/49 - 1
12-133248830-G-A c.1765C>T p.Pro589Ser Missense 16/49 - 1
12-133248830-G-T c.1765C>A p.Pro589Thr Missense 16/49 - 1
12-133248835-T-C c.1760A>G p.Lys587Arg Missense 16/49 - 1
12-133248869-T-C c.1726A>G p.Lys576Glu Missense 16/49 - 1
12-133248869-T-G c.1726A>C p.Lys576Gln Missense 16/49 - 1
12-133248877-C-A c.1718G>T p.Arg573Leu Missense 16/49 - 1
12-133248878-G-A c.1717C>T p.Arg573Trp Missense 16/49 - 2
12-133248878-G-C c.1717C>G p.Arg573Gly Missense 16/49 - 1
12-133248878-G-T c.1717C>A p.Arg573Arg Synonymous 16/49 - 1
12-133248888-G-A c.1707C>T p.Phe569Phe Synonymous 16/49 - 1
12-133248888-G-C c.1707C>G p.Phe569Leu Missense 16/49 - 2
12-133248899-C-T c.1696G>A p.Ala566Thr Missense 16/49 - 2
12-133248904-G-A c.1691C>T p.Pro564Leu Missense 16/49 - 1
12-133249181-G-A c.1686+32C>T - IntronicSNV - 15/48 1
12-133249181-G-C c.1686+32C>G - IntronicSNV - 15/48 3
12-133249212-C-T c.1686+1G>A - IntronicSNV - 15/48 1
12-133249224-G-A c.1675C>T p.Arg559Trp Missense 15/49 - 1
12-133249241-C-T c.1658G>A p.Arg553His Missense 15/49 - 1
12-133249242-G-A c.1657C>T p.Arg553Cys Missense 15/49 - 1
12-133249247-A-G c.1652T>C p.Val551Ala Missense 15/49 - 1
12-133249250-C-T c.1649G>A p.Gly550Glu Missense 15/49 - 1
12-133249259-GAGG-G c.1639_1641del p.Leu547del InFrameDeletion 15/49 - 1
12-133249260-G-A c.1639C>T p.Leu547Phe Missense 15/49 - 1
12-133249264-C-A c.1635G>T p.Glu545Asp Missense 15/49 - 1
12-133249264-C-G c.1635G>C p.Glu545Asp Missense 15/49 - 1
12-133249266-C-T c.1633G>A p.Glu545Lys Missense 15/49 - 1
12-133249273-GCC-AAG c.1624_1626delinsCTT p.Gly542Leu Missense 15/49 - 1
12-133249277-C-T c.1622G>A p.Gly541Glu Missense 15/49 - 1
12-133249278-CC-C c.1625del p.Gly542Alafs*21 Frameshift 15/49 - 1
12-133249288-C-A c.1611G>T p.Glu537Asp Missense 15/49 - 1
12-133249288-C-G c.1611G>C p.Glu537Asp Missense 15/49 - 1
12-133249290-C-T c.1609G>A p.Glu537Lys Missense 15/49 - 1
12-133249299-AG-A c.1600del p.Leu534Trpfs*29 Frameshift 15/49 - 1
12-133249302-C-T c.1597G>A p.Val533Met Missense 15/49 - 1
12-133249323-T-TT c.1577dup p.Leu527Alafs*11 Frameshift 15/49 - 2
12-133249329-A-G c.1570T>C p.Phe524Leu Missense 15/49 - 1
12-133249335-G-C c.1564C>G p.Gln522Glu Missense 15/49 - 1
12-133249340-T-C c.1559A>G p.Gln520Arg Missense 15/49 - 1
12-133249347-T-C c.1552A>G p.Asn518Asp Missense 15/49 - 1
12-133249350-G-A c.1549C>T p.Pro517Ser Missense 15/49 - 1
12-133249350-G-GA c.1548_1549insT p.Pro517Serfs*10 Frameshift 15/49 - 1
12-133249354-G-C c.1545C>G p.Ile515Met Missense 15/49 - 1
12-133249357-G-A c.1542C>T p.Ile514Ile Synonymous 15/49 - 1
12-133249359-T-A c.1540A>T p.Ile514Phe Missense 15/49 - 1
12-133249366-G-T c.1533C>A p.His511Gln Missense 15/49 - 1
12-133249375-C-A c.1524G>T p.Gln508His Missense 15/49 - 1
12-133249375-C-G c.1524G>C p.Gln508His Missense 15/49 - 1
12-133249394-T-G c.1505A>C p.Glu502Ala Missense 15/49 - 1
12-133249400-A-T c.1499T>A p.Leu500Gln Missense 15/49 - 1
12-133249412-C-T c.1487G>A p.Gly496Asp Missense 15/49 - 1
12-133249425-C-T c.1474G>A p.Val492Met Missense 15/49 - 1
12-133249751-T-C c.1472A>G p.Glu491Gly Missense 14/49 - 1
12-133249752-C-T c.1471G>A p.Glu491Lys Missense 14/49 - 1
12-133249753-G-A c.1470C>T p.Asp490Asp Synonymous 14/49 - 1
12-133249757-G-T c.1466C>A p.Pro489His Missense 14/49 - 1
12-133249762-C-T c.1461G>A p.Met487Ile Missense 14/49 - 1
12-133249764-T-C c.1459A>G p.Met487Val Missense 14/49 - 1
12-133249766-G-A c.1457C>T p.Pro486Leu Missense 14/49 - 1
12-133249767-G-A c.1456C>T p.Pro486Ser Missense 14/49 - 1
12-133249775-G-A c.1448C>T p.Thr483Ile Missense 14/49 - 1
12-133249784-G-A c.1439C>T p.Ala480Val Missense 14/49 - 3
12-133249784-G-T c.1439C>A p.Ala480Asp Missense 14/49 - 1
12-133249789-G-C c.1434C>G p.Ile478Met Missense 14/49 - 1
12-133249793-A-G c.1430T>C p.Phe477Ser Missense 14/49 - 1
12-133249796-G-A c.1427C>T p.Pro476Leu Missense 14/49 - 2
12-133249799-T-C c.1424A>G p.His475Arg Missense 14/49 - 1
12-133249800-G-A c.1423C>T p.His475Tyr Missense 14/49 - 2
12-133249802-A-G c.1421T>C p.Val474Ala Missense 14/49 - 1
12-133249803-C-T c.1420G>A p.Val474Ile Missense 14/49 - 2
12-133249805-T-C c.1418A>G p.Tyr473Cys Missense 14/49 - 1
12-133249815-A-G c.1408T>C p.Tyr470His Missense 14/49 - 2
12-133249817-A-AA c.1406dup p.Tyr470Valfs*33 Frameshift 14/49 - 1
12-133249820-T-C c.1403A>G p.Tyr468Cys Missense 14/49 - 1
12-133249829-G-A c.1394C>T p.Ala465Val Missense 14/49 - 10
12-133249829-GC-TT c.1393_1394delinsAA p.Ala465Asn Missense 14/49 - 1
12-133249836-C-T c.1387G>A p.Ala463Thr Missense 14/49 - 1
12-133249837-A-T c.1386T>A p.Asp462Glu Missense 14/49 - 1
12-133249839-C-A c.1384G>T p.Asp462Tyr Missense 14/49 - 1
12-133249841-G-A c.1382C>T p.Ser461Leu Missense 14/49 - 3
12-133249842-A-G c.1381T>C p.Ser461Pro Missense 14/49 - 3
12-133249842-A-T c.1381T>A p.Ser461Thr Missense 14/49 - 1
12-133249845-C-T c.1378G>A p.Val460Met Missense 14/49 - 1
12-133249847-G-A c.1376C>T p.Ser459Phe Missense 14/49 - 36
12-133249847-G-T c.1376C>A p.Ser459Tyr Missense 14/49 - 1
12-133249848-A-G c.1375T>C p.Ser459Pro Missense 14/49 - 1
12-133249850-T-A c.1373A>T p.Tyr458Phe Missense 14/49 - 6
12-133249852-C-T c.1371G>A p.Thr457Thr Synonymous 14/49 - 1
12-133249853-G-A c.1370C>T p.Thr457Met Missense 14/49 - 7
12-133249853-GT-CT c.1370delinsG p.Thr457Arg Missense 14/49 - 1
12-133249856-G-A c.1367C>T p.Ala456Val Missense 14/49 - 2
12-133249856-G-C c.1367C>G p.Ala456Gly Missense 14/49 - 2
12-133249857-C-A c.1366G>T p.Ala456Ser Missense 14/49 - 1
12-133249857-C-G c.1366G>C p.Ala456Pro Missense 14/49 - 31
12-133249857-C-T c.1366G>A p.Ala456Thr Missense 14/49 - 1
12-133249859-A-T c.1364T>A p.Leu455Gln Missense 14/49 - 1
12-133249862-G-A c.1361C>T p.Thr454Ile Missense 14/49 - 1
12-133249863-T-TT c.1360dup p.Thr454Asnfs*49 SpliceAcceptorInsertion - - 1
12-133250017-C-A c.1359+144G>T - IntronicSNV - 13/48 1
12-133250115-GA-G c.1359+46del - IntronicDeletion - 13/48 1
12-133250118-C-T c.1359+43G>A - IntronicSNV - 13/48 1
12-133250152-C-G c.1359+9G>C - IntronicSNV - 13/48 2
12-133250152-C-T c.1359+9G>A - IntronicSNV - 13/48 2
12-133250162-T-C c.1358A>G p.Gln453Arg Missense 13/49 - 6
12-133250163-G-A c.1357C>T p.Gln453* Nonsense 13/49 - 1
12-133250169-G-A c.1351C>T p.Gln451* Nonsense 13/49 - 1
12-133250178-C-T c.1342G>A p.Ala448Thr Missense 13/49 - 2
12-133250183-C-G c.1337G>C p.Arg446Pro Missense 13/49 - 1
12-133250183-C-T c.1337G>A p.Arg446Gln Missense 13/49 - 5
12-133250184-G-A c.1336C>T p.Arg446Trp Missense 13/49 - 6
12-133250186-C-T c.1334G>A p.Cys445Tyr Missense 13/49 - 1
12-133250188-C-T c.1332G>A p.Met444Ile Missense 13/49 - 1
12-133250189-A-T c.1331T>A p.Met444Lys Missense 13/49 - 15
12-133250196-C-T c.1324G>A p.Glu442Lys Missense 13/49 - 1
12-133250197-C-T c.1323G>A p.Pro441Pro Synonymous 13/49 - 1
12-133250198-G-A c.1322C>T p.Pro441Leu Missense 13/49 - 8
12-133250199-G-A c.1321C>T p.Pro441Ser Missense 13/49 - 1
12-133250205-G-C c.1315C>G p.Leu439Val Missense 13/49 - 1
12-133250208-C-G c.1312G>C p.Glu438Gln Missense 13/49 - 1
12-133250213-G-C c.1307C>G p.Pro436Arg Missense 13/49 - 15
12-133250213-G-T c.1307C>A p.Pro436His Missense 13/49 - 4
12-133250214-G-A c.1306C>T p.Pro436Ser Missense 13/49 - 8
12-133250218-A-G c.1302T>C p.Tyr434Tyr Synonymous 13/49 - 1
12-133250220-A-G c.1300T>C p.Tyr434His Missense 13/49 - 1
12-133250220-A-T c.1300T>A p.Tyr434Asn Missense 13/49 - 1
12-133250222-C-T c.1298G>A p.Gly433Asp Missense 13/49 - 1
12-133250225-A-G c.1295T>C p.Leu432Pro Missense 13/49 - 1
12-133250232-C-T c.1288G>A p.Ala430Thr Missense 13/49 - 1
12-133250233-C-A c.1287G>T p.Lys429Asn Missense 13/49 - 1
12-133250233-C-G c.1287G>C p.Lys429Asn Missense 13/49 - 1
12-133250234-T-C c.1286A>G p.Lys429Arg Missense 13/49 - 1
12-133250237-G-A c.1283C>T p.Ala428Val Missense 13/49 - 2
12-133250238-C-T c.1282G>A p.Ala428Thr Missense 13/49 - 7
12-133250241-C-T c.1279G>A p.Ala427Thr Missense 13/49 - 1
12-133250243-G-A c.1277C>T p.Ala426Val Missense 13/49 - 8
12-133250246-T-C c.1274A>G p.Lys425Arg Missense 13/49 - 5
12-133250249-A-G c.1271T>C p.Leu424Pro Missense 13/49 - 3
12-133250249-A-T c.1271T>A p.Leu424His Missense 13/49 - 1
12-133250250-G-A c.1270C>T p.Leu424Phe Missense 13/49 - 2
12-133250250-G-C c.1270C>G p.Leu424Val Missense 13/49 - 60
12-133250250-G-T c.1270C>A p.Leu424Ile Missense 13/49 - 12
12-133250251-A-T c.1269T>A p.Asn423Lys Missense 13/49 - 1
12-133250255-T-C c.1265A>G p.His422Arg Missense 13/49 - 1
12-133250256-G-A c.1264C>T p.His422Tyr Missense 13/49 - 1
12-133250259-T-C c.1261A>G p.Ser421Gly Missense 13/49 - 1
12-133250262-C-A c.1258G>T p.Gly420Cys Missense 13/49 - 1
12-133250263-C-CC c.1259dup p.Ser421Glnfs*3 Frameshift 13/49 - 1
12-133250263-C-T c.1257G>A p.Val419Val Synonymous 13/49 - 1
12-133250268-G-A c.1252C>T p.Pro418Ser Missense 13/49 - 2
12-133250279-T-C c.1241A>G p.Asp414Gly Missense 13/49 - 1
12-133250280-C-T c.1240G>A p.Asp414Asn Missense 13/49 - 1
12-133250282-C-A c.1238G>T p.Arg413Met Missense 13/49 - 1
12-133250282-C-T c.1238G>A p.Arg413Lys Missense 13/49 - 1
12-133250288-A-G c.1232T>C p.Val411Ala Missense 13/49 - 1
12-133250289-C-A c.1231G>T p.Val411Leu Missense 13/49 - 82
12-133250289-C-G c.1231G>C p.Val411Leu Missense 13/49 - 81
12-133250289-C-T c.1231G>A p.Val411Met Missense 13/49 - 3
12-133250290-C-T c.1230G>A p.Trp410* Nonsense 13/49 - 2
12-133250342-C-T c.1227-49G>A - IntronicSNV - 12/48 1
12-133250734-C-G c.1227-441G>C - IntronicSNV - 12/48 1
12-133250734-C-T c.1227-441G>A - IntronicSNV - 12/48 1
12-133251939-G-A c.1226+45C>T - IntronicSNV - 12/48 7
12-133251940-C-T c.1226+44G>A - IntronicSNV - 12/48 1
12-133251971-C-T c.1226+13G>A - IntronicSNV - 12/48 1
12-133251985-T-A c.1225A>T p.Arg409Trp Missense 12/49 - 1
12-133251992-G-C c.1218C>G p.Asp406Glu Missense 12/49 - 1
12-133251995-C-T c.1215G>A p.Met405Ile Missense 12/49 - 1
12-133252006-A-G c.1204T>C p.Cys402Arg Missense 12/49 - 1
12-133252007-C-G c.1203G>C p.Gln401His Missense 12/49 - 1
12-133252011-G-A c.1199C>T p.Pro400Leu Missense 12/49 - 1
12-133252012-G-T c.1198C>A p.Pro400Thr Missense 12/49 - 1
12-133252014-G-A c.1196C>T p.Ala399Val Missense 12/49 - 1
12-133252020-T-C c.1190A>G p.Tyr397Cys Missense 12/49 - 1
12-133252022-C-A c.1188G>T p.Glu396Asp Missense 12/49 - 1
12-133252022-C-G c.1188G>C p.Glu396Asp Missense 12/49 - 1
12-133252023-CTCCC-C c.1185_1188del p.Glu396Thrfs*15 Frameshift 12/49 - 2
12-133252023-T-C c.1187A>G p.Glu396Gly Missense 12/49 - 2
12-133252024-C-CA c.1185_1186insT p.Glu396* Nonsense 12/49 - 1
12-133252026-C-T c.1184G>A p.Gly395Glu Missense 12/49 - 1
12-133252030-G-T c.1180C>A p.Gln394Lys Missense 12/49 - 1
12-133252035-T-C c.1175A>G p.Asp392Gly Missense 12/49 - 2
12-133252038-T-G c.1172A>C p.Lys391Thr Missense 12/49 - 1
12-133252043-G-A c.1167C>T p.Phe389Phe Synonymous 12/49 - 1
12-133252045-A-C c.1165T>G p.Phe389Val Missense 12/49 - 1
12-133252048-C-T c.1162G>A p.Gly388Ser Missense 12/49 - 1
12-133252055-C-A c.1155G>T p.Gln385His Missense 12/49 - 1
12-133252056-T-A c.1154A>T p.Gln385Leu Missense 12/49 - 1
12-133252057-G-A c.1153C>T p.Gln385* Nonsense 12/49 - 1
12-133252058-C-A c.1152G>T p.Gln384His Missense 12/49 - 1
12-133252063-T-G c.1147A>C p.Met383Leu Missense 12/49 - 1
12-133252072-C-A c.1138G>T p.Gly380Cys Missense 12/49 - 1
12-133252072-C-CC c.1139dup p.Leu381Serfs*43 Frameshift 12/49 - 1
12-133252084-C-A c.1126G>T p.Ala376Ser Missense 12/49 - 1
12-133252086-C-A c.1124G>T p.Arg375Leu Missense 12/49 - 1
12-133252086-C-T c.1124G>A p.Arg375Gln Missense 12/49 - 2
12-133252087-G-A c.1123C>T p.Arg375Trp Missense 12/49 - 1
12-133252090-C-T c.1120G>A p.Ala374Thr Missense 12/49 - 1
12-133252321-C-T c.1106G>A p.Trp369* Nonsense 11/49 - 1
12-133252323-GTC-TAA c.1102_1104delinsTTA p.Asp368Leu Nonsense 11/49 - 1
12-133252324-T-A c.1103A>T p.Asp368Val Missense 11/49 - 5
12-133252324-T-TA c.1102_1103insT p.Asp368Valfs*56 Frameshift 11/49 - 1
12-133252325-C-A c.1102G>T p.Asp368Tyr Missense 11/49 - 3
12-133252325-C-T c.1102G>A p.Asp368Asn Missense 11/49 - 2
12-133252326-A-G c.1101T>C p.Phe367Phe Synonymous 11/49 - 1
12-133252327-A-C c.1100T>G p.Phe367Cys Missense 11/49 - 3
12-133252327-A-G c.1100T>C p.Phe367Ser Missense 11/49 - 15
12-133252326-A-T c.1101T>A p.Phe367Leu Missense 11/49 - 3
12-133252328-A-C c.1099T>G p.Phe367Val Missense 11/49 - 4
12-133252330-A-C c.1097T>G p.Phe366Cys Missense 11/49 - 1
12-133252329-A-C c.1098T>G p.Phe366Leu Missense 11/49 - 1
12-133252329-A-T c.1098T>A p.Phe366Leu Missense 11/49 - 1
12-133252331-A-AA c.1101dup p.Asp368* Nonsense 11/49 - 1
12-133252331-AA-A c.1101del p.Phe367Leufs*15 Frameshift 11/49 - 1
12-133252336-C-A c.1091G>T p.Gly364Val Missense 11/49 - 1
12-133252337-C-A c.1090G>T p.Gly364Trp Missense 11/49 - 1
12-133252337-C-G c.1090G>C p.Gly364Arg Missense 11/49 - 2
12-133252337-C-T c.1090G>A p.Gly364Arg Missense 11/49 - 2
12-133252338-G-A c.1089C>T p.Asn363Asn Synonymous 11/49 - 1
12-133252338-G-C c.1089C>G p.Asn363Lys Missense 11/49 - 7
12-133252338-G-T c.1089C>A p.Asn363Lys Missense 11/49 - 10
12-133252340-T-C c.1087A>G p.Asn363Asp Missense 11/49 - 2
12-133252342-T-C c.1085A>G p.Tyr362Cys Missense 11/49 - 2
12-133252345-G-A c.1082C>T p.Thr361Ile Missense 11/49 - 1
12-133252350-CCATGATGGTGGGTTTGG-C c.1061_1077del p.Thr354Serfs*9 Frameshift 11/49 - 1
12-133252356-TGGTGGGTTTGG-T c.1061_1071del p.Thr354Asnfs*11 Frameshift 11/49 - 1
12-133252359-TGGGTTTGGTCT-T c.1059_1069del p.Glu353Aspfs*12 Frameshift 11/49 - 1
12-133252361-G-A c.1066C>T p.Pro356Ser Missense 11/49 - 1
12-133252361-GGTTTGGTCTCCTGG-G c.1056_1069del p.Gln352Hisfs*12 Frameshift 11/49 - 1
12-133252371-C-A c.1056G>T p.Gln352His Missense 11/49 - 1
12-133252372-T-G c.1055A>C p.Gln352Pro Missense 11/49 - 1
12-133252382-C-G c.1045G>C p.Glu349Gln Missense 11/49 - 1
12-133252382-C-T c.1045G>A p.Glu349Lys Missense 11/49 - 2
12-133252382-TCA-T c.1044_1045del p.Phe348Leufs*20 Frameshift 11/49 - 1
12-133252384-A-C c.1043T>G p.Phe348Cys Missense 11/49 - 1
12-133252384-A-G c.1043T>C p.Phe348Ser Missense 11/49 - 1
12-133252386-C-A c.1041G>T p.Trp347Cys Missense 11/49 - 5
12-133252394-G-A c.1033C>T p.Gln345* Nonsense 11/49 - 1
12-133252400-G-A c.1027C>T p.Leu343Leu Synonymous 11/49 - 1
12-133252402-T-C c.1025A>G p.His342Arg Missense 11/49 - 2
12-133252403-G-A c.1024C>T p.His342Tyr Missense 11/49 - 2
12-133252405-G-A c.1022C>T p.Ala341Val Missense 11/49 - 1
12-133252634-G-T c.1020+46C>A - IntronicSNV - 10/48 1
12-133252651-G-A c.1020+29C>T - IntronicSNV - 10/48 1
12-133252682-C-T c.1018G>A p.Glu340Lys Missense 10/49 - 1
12-133252684-T-TT c.1016dup p.Asp339Glufs*2 Frameshift 10/49 - 1
12-133252693-T-C c.1007A>G p.Asn336Ser Missense 10/49 - 6
12-133252722-T-TTGC c.977_978insGCA p.Pro326_Glu327insGln InFrameInsertion 10/49 - 1
12-133252725-GCTTGGG-G c.972_977del p.Lys325_Pro326del InFrameDeletion 10/49 - 1
12-133252727-T-A c.973A>T p.Lys325* Nonsense 10/49 - 1
12-133252729-GG-TT c.970_971delinsAA p.Pro324Asn Missense 10/49 - 1
12-133252732-GG-G c.972del p.Lys325Serfs*19 Frameshift 10/49 - 1
12-133252733-T-C c.967A>G p.Thr323Ala Missense 10/49 - 2
12-133252739-C-T c.961G>A p.Glu321Lys Missense 10/49 - 1
12-133252743-A-C c.957T>G p.Asp319Glu Missense 10/49 - 1
12-133252743-A-T c.957T>A p.Asp319Glu Missense 10/49 - 1
12-133252745-C-T c.955G>A p.Asp319Asn Missense 10/49 - 2
12-133252748-C-T c.952G>A p.Glu318Lys Missense 10/49 - 1
12-133252754-C-G c.946G>C p.Asp316His Missense 10/49 - 1
12-133252759-G-C c.941C>G p.Ser314* Nonsense 10/49 - 1
12-133252759-G-T c.941C>A p.Ser314* Nonsense 10/49 - 1
12-133252760-A-C c.940T>G p.Ser314Ala Missense 10/49 - 2
12-133252763-C-T c.937G>A p.Val313Ile Missense 10/49 - 1
12-133252781-T-C c.919A>G p.Ile307Val Missense 10/49 - 1
12-133252786-T-A c.914A>T p.Tyr305Phe Missense 10/49 - 1
12-133252796-C-A c.910-6G>T - IntronicSNV - 9/48 2
12-133252796-C-G c.910-6G>C - IntronicSNV - 9/48 3
12-133252947-T-C c.910-157A>G - IntronicSNV - 9/48 1
12-133253133-T-C c.908A>G p.Gln303Arg Missense 9/49 - 1
12-133253139-T-C c.902A>G p.Asp301Gly Missense 9/49 - 1
12-133253140-C-T c.901G>A p.Asp301Asn Missense 9/49 - 5
12-133253142-A-T c.899T>A p.Ile300Asn Missense 9/49 - 1
12-133253143-T-C c.898A>G p.Ile300Val Missense 9/49 - 1
12-133253144-C-T c.897G>A p.Met299Ile Missense 9/49 - 1
12-133253146-T-C c.895A>G p.Met299Val Missense 9/49 - 2
12-133253148-T-C c.893A>G p.Tyr298Cys Missense 9/49 - 1
12-133253151-G-A c.890C>T p.Ser297Phe Missense 9/49 - 31
12-133253151-G-T c.890C>A p.Ser297Tyr Missense 9/49 - 3
12-133253152-A-C c.889T>G p.Ser297Ala Missense 9/49 - 1
12-133253152-A-G c.889T>C p.Ser297Pro Missense 9/49 - 1
12-133253152-A-T c.889T>A p.Ser297Thr Missense 9/49 - 1
12-133253154-A-C c.887T>G p.Ile296Ser Missense 9/49 - 1
12-133253155-T-C c.886A>G p.Ile296Val Missense 9/49 - 1
12-133253156-C-T c.885G>A p.Met295Ile Missense 9/49 - 1
12-133253157-A-C c.884T>G p.Met295Arg Missense 9/49 - 6
12-133253158-AT-A c.883del p.Met295* Frameshift 9/49 - 1
12-133253160-A-C c.881T>G p.Met294Arg Missense 9/49 - 1
12-133253172-G-A c.869C>T p.Thr290Ile Missense 9/49 - 2
12-133253174-C-CC c.867dup p.Thr290Aspfs*29 Frameshift 9/49 - 1
12-133253179-C-T c.862G>A p.Ala288Thr Missense 9/49 - 1
12-133253180-A-T c.861T>A p.Asp287Glu Missense 9/49 - 8
12-133253181-T-G c.860A>C p.Asp287Ala Missense 9/49 - 2
12-133253182-C-T c.859G>A p.Asp287Asn Missense 9/49 - 1
12-133253183-A-C c.858T>G p.Pro286Pro Synonymous 9/49 - 1
12-133253183-A-G c.858T>C p.Pro286Pro Synonymous 9/49 - 1
12-133253183-A-T c.858T>A p.Pro286Pro Synonymous 9/49 - 1
12-133253184-G-A c.857C>T p.Pro286Leu Missense 9/49 - 4
12-133253184-G-C c.857C>G p.Pro286Arg Missense 9/49 - 109
12-133253184-GG-TG c.857delinsA p.Pro286His Missense 9/49 - 1
12-133253184-G-T c.857C>A p.Pro286His Missense 9/49 - 12
12-133253185-G-A c.856C>T p.Pro286Ser Missense 9/49 - 4
12-133253187-A-G c.854T>C p.Phe285Ser Missense 9/49 - 1
12-133253186-A-C c.855T>G p.Phe285Leu Missense 9/49 - 1
12-133253186-A-T c.855T>A p.Phe285Leu Missense 9/49 - 1
12-133253188-A-G c.853T>C p.Phe285Leu Missense 9/49 - 1
12-133253194-G-A c.847C>T p.Leu283Phe Missense 9/49 - 2
12-133253194-GG-AA c.846_847delinsTT p.Leu283Phe Missense 9/49 - 1
12-133253196-GGG-G c.846_847del p.Leu283Glnfs*4 Frameshift 9/49 - 1
12-133253197-G-A c.844C>T p.Pro282Ser Missense 9/49 - 2
12-133253202-T-C c.839A>G p.Lys280Arg Missense 9/49 - 1
12-133253204-TGGTCGTCTCAATG-T c.825_837del p.Asp275Glufs*16 Frameshift 9/49 - 1
12-133253205-G-A c.836C>T p.Thr279Ile Missense 9/49 - 1
12-133253206-T-C c.835A>G p.Thr279Ala Missense 9/49 - 1
12-133253208-G-A c.833C>T p.Thr278Met Missense 9/49 - 4
12-133253208-GT-CT c.833delinsG p.Thr278Arg Missense 9/49 - 1
12-133253209-T-A c.832A>T p.Thr278Ser Missense 9/49 - 1
12-133253209-T-G c.832A>C p.Thr278Pro Missense 9/49 - 1
12-133253211-T-A c.830A>T p.Glu277Val Missense 9/49 - 1
12-133253211-T-C c.830A>G p.Glu277Gly Missense 9/49 - 1
12-133253211-T-G c.830A>C p.Glu277Ala Missense 9/49 - 1
12-133253212-C-T c.829G>A p.Glu277Lys Missense 9/49 - 1
12-133253217-T-A c.824A>T p.Asp275Val Missense 9/49 - 8
12-133253217-T-C c.824A>G p.Asp275Gly Missense 9/49 - 3
12-133253217-T-G c.824A>C p.Asp275Ala Missense 9/49 - 6
12-133253220-A-C c.821T>G p.Phe274Cys Missense 9/49 - 2
12-133253230-C-T c.811G>A p.Val271Ile Missense 9/49 - 1
12-133253232-A-AA c.809dup p.Val271Glyfs*5 Frameshift 9/49 - 1
12-133253233-C-T c.808G>A p.Val270Met Missense 9/49 - 2
12-133253236-G-A c.805C>T p.Pro269Ser Missense 9/49 - 1
12-133253237-GG-G c.806del p.Pro269Leufs*26 Frameshift 9/49 - 1
12-133253947-A-G c.801+2T>C - IntronicSNV - 8/48 1
12-133253957-C-A c.793G>T p.Glu265* Nonsense 8/49 - 1
12-133253960-ACAAGGTCATCTCGGCGGGTGATTTCTACCGGAAA-A c.759_792del p.Phe253Leufs*31 Frameshift 8/49 - 1
12-133253962-A-AA c.789dup p.Val264Cysfs*2 Frameshift 8/49 - 1
12-133253966-C-A c.784G>T p.Asp262Tyr Missense 8/49 - 1
12-133253966-C-G c.784G>C p.Asp262His Missense 8/49 - 1
12-133253973-G-A c.777C>T p.Arg259Arg Synonymous 8/49 - 1
12-133253973-G-C c.777C>G p.Arg259Arg Synonymous 8/49 - 1
12-133253973-G-T c.777C>A p.Arg259Arg Synonymous 8/49 - 1
12-133253974-C-T c.776G>A p.Arg259His Missense 8/49 - 4
12-133253975-G-A c.775C>T p.Arg259Cys Missense 8/49 - 1
12-133253980-A-G c.770T>C p.Ile257Thr Missense 8/49 - 1
12-133253984-C-T c.766G>A p.Glu256Lys Missense 8/49 - 1
12-133253987-C-T c.763G>A p.Val255Ile Missense 8/49 - 1
12-133253991-A-C c.759T>G p.Phe253Leu Missense 8/49 - 1
12-133253991-A-T c.759T>A p.Phe253Leu Missense 8/49 - 1
12-133253994-A-C c.756T>G p.Ala252Ala Synonymous 8/49 - 1
12-133253994-A-G c.756T>C p.Ala252Ala Synonymous 8/49 - 1
12-133253994-A-T c.756T>A p.Ala252Ala Synonymous 8/49 - 1
12-133253995-G-A c.755C>T p.Ala252Val Missense 8/49 - 11
12-133254001-C-G c.749G>C p.Gly250Ala Missense 8/49 - 1
12-133254005-G-C c.745C>G p.Arg249Gly Missense 8/49 - 1
12-133254014-C-T c.736G>A p.Val246Ile Missense 8/49 - 1
12-133254083-T-C c.721-54A>G - IntronicSNV - 7/48 1
12-133254169-G-A c.715C>T p.His239Tyr Missense 7/49 - 1
12-133254174-T-C c.710A>G p.Lys237Arg Missense 7/49 - 1
12-133254192-C-T c.692G>A p.Arg231His Missense 7/49 - 6
12-133254193-G-A c.691C>T p.Arg231Cys Missense 7/49 - 2
12-133254193-G-C c.691C>G p.Arg231Gly Missense 7/49 - 2
12-133254193-G-T c.691C>A p.Arg231Ser Missense 7/49 - 2
12-133254194-G-GG c.691dup p.Arg231Profs*5 Frameshift 7/49 - 1
12-133254213-T-C c.671A>G p.Tyr224Cys Missense 7/49 - 1
12-133254214-TA-T c.670del p.Tyr224Thrfs*13 Frameshift 7/49 - 1
12-133254217-C-T c.667G>A p.Glu223Lys Missense 7/49 - 1
12-133254237-T-C c.647A>G p.Asp216Gly Missense 7/49 - 1
12-133254243-T-C c.641A>G p.Gln214Arg Missense 7/49 - 2
12-133254252-A-G c.632T>C p.Ile211Thr Missense 7/49 - 1
12-133254257-C-G c.627G>C p.Lys209Asn Missense 7/49 - 1
12-133254262-GAG-G c.623_624del p.Ser208* Frameshift 7/49 - 1
12-133254265-T-C c.619A>G p.Thr207Ala Missense 7/49 - 1
12-133254274-C-T c.610G>A p.Glu204Lys Missense 7/49 - 1
12-133254289-C-A c.595G>T p.Gly199Cys Missense 7/49 - 1
12-133254298-G-A c.586C>T p.Gln196* Nonsense 7/49 - 1
12-133256084-T-C c.577A>G p.Ser193Gly Missense 6/49 - 1
12-133256096-C-CAA c.564_565insTT p.Ala189Leufs*24 Frameshift 6/49 - 1
12-133256096-C-T c.565G>A p.Ala189Thr Missense 6/49 - 3
12-133256105-C-CC c.556dup p.Ala186Glyfs*18 Frameshift 6/49 - 1
12-133256105-C-T c.556G>A p.Ala186Thr Missense 6/49 - 1
12-133256113-G-GG c.549dup p.Ser184Glnfs*20 Frameshift 6/49 - 1
12-133256117-G-A c.544C>T p.His182Tyr Missense 6/49 - 1
12-133256122-T-TT c.539dup p.Asp181Glyfs*23 Frameshift 6/49 - 1
12-133256125-T-C c.536A>G p.Glu179Gly Missense 6/49 - 1
12-133256127-CCT-CAT c.533delinsT p.Arg178Met Missense 6/49 - 1
12-133256128-C-T c.533G>A p.Arg178Lys Missense 6/49 - 1
12-133256137-CTTC-C c.528_530del p.Lys176del InFrameDeletion 6/49 - 1
12-133256142-CGGCAGGGGAGATCTCCTTCCTC-C c.499_520del p.Arg167* Frameshift 6/49 - 1
12-133256149-G-A c.512C>T p.Ser171Phe Missense 6/49 - 1
12-133256152-AT-GG c.508_509delinsCC p.Ile170Pro Missense 6/49 - 1
12-133256153-ATCTCCTTCCTCACTTTGACAAG-A c.487_508del p.Leu163Serfs*5 Frameshift 6/49 - 1
12-133256171-C-A c.490G>T p.Val164Phe Missense 6/49 - 1
12-133256179-CT-C c.482del p.Glu161Glyfs*6 Frameshift 6/49 - 1
12-133256197-A-AA c.464dup p.Ser156Valfs*48 Frameshift 6/49 - 1
12-133256200-C-T c.461G>A p.Arg154Lys Missense 6/49 - 1
12-133256201-T-TC c.459_460insG p.Arg154Glufs*50 Frameshift 6/49 - 1
12-133256213-G-A c.448C>T p.Arg150* Nonsense 6/49 - 4
12-133256215-CTTCAAACC-C c.440_447del p.Gly147Alafs*54 Frameshift 6/49 - 1
12-133256217-C-G c.444G>C p.Leu148Phe Missense 6/49 - 2
12-133256220-A-AA c.443dup p.Leu148Phefs*56 Frameshift 6/49 - 1
12-133256226-CCA-C c.434_435del p.Leu145Cysfs*58 Frameshift 6/49 - 1
12-133256229-G-C c.432C>G p.His144Gln Missense 6/49 - 2
12-133256229-G-T c.432C>A p.His144Gln Missense 6/49 - 2
12-133256230-T-C c.431A>G p.His144Arg Missense 6/49 - 1
12-133256233-T-C c.428A>G p.Asn143Ser Missense 6/49 - 1
12-133256234-T-C c.427A>G p.Asn143Asp Missense 6/49 - 1
12-133256236-G-A c.425C>T p.Pro142Leu Missense 6/49 - 1
12-133256236-G-T c.425C>A p.Pro142Gln Missense 6/49 - 1
12-133256546-C-A c.417G>T p.Leu139Leu Synonymous 5/49 - 1
12-133256554-C-A c.409G>T p.Glu137* Nonsense 5/49 - 1
12-133256554-C-G c.409G>C p.Glu137Gln Missense 5/49 - 1
12-133256554-C-T c.409G>A p.Glu137Lys Missense 5/49 - 1
12-133256555-T-A c.408A>T p.Lys136Asn Missense 5/49 - 1
12-133256555-T-G c.408A>C p.Lys136Asn Missense 5/49 - 1
12-133256557-T-C c.406A>G p.Lys136Glu Missense 5/49 - 1
12-133256560-G-A c.403C>T p.Pro135Ser Missense 5/49 - 2
12-133256561-G-GG c.405dup p.Lys136Glnfs*68 Frameshift 5/49 - 1
12-133256563-C-T c.400G>A p.Val134Ile Missense 5/49 - 1
12-133256564-AG-TG c.399delinsA p.Thr133Thr Missense 5/49 - 1
12-133256568-T-C c.395A>G p.Glu132Gly Missense 5/49 - 1
12-133256569-C-T c.394G>A p.Glu132Lys Missense 5/49 - 1
12-133256575-TTTGCAATTTTGCCCTG-T c.373_388del p.Gln125Lysfs*19 Frameshift 5/49 - 1
12-133256577-TG-T c.386del p.Ala129Glufs*20 Frameshift 5/49 - 1
12-133256583-TTT-T c.381_382del p.Lys127Asnfs*76 Frameshift 5/49 - 1
12-133256588-C-A c.375G>T p.Gln125His Missense 5/49 - 1
12-133256588-C-G c.375G>C p.Gln125His Missense 5/49 - 1
12-133256597-C-A c.366G>T p.Lys122Asn Missense 5/49 - 1
12-133256597-TCT-T c.366_367del p.Lys123Valfs*80 Frameshift 5/49 - 1
12-133256601-GG-G c.363del p.Lys122Argfs*27 Frameshift 5/49 - 1
12-133256605-G-T c.358C>A p.Leu120Ile Missense 5/49 - 1
12-133256610-G-T c.353C>A p.Ser118Tyr Missense 5/49 - 1
12-133256622-C-CC c.341dup p.Glu115Argfs*89 Frameshift 5/49 - 1
12-133256623-G-A c.340C>T p.Arg114* Nonsense 5/49 - 3
12-133256626-C-A c.337G>T p.Glu113* Nonsense 5/49 - 1
12-133256628-AC-A c.335del p.Cys112Leufs*37 Frameshift 5/49 - 1
12-133256631-C-T c.332G>A p.Gly111Asp Missense 5/49 - 1
12-133256774-G-A c.320C>T p.Ala107Val Missense 4/49 - 1
12-133256782-G-C c.312C>G p.Phe104Leu Missense 4/49 - 3
12-133256782-G-T c.312C>A p.Phe104Leu Missense 4/49 - 3
12-133256784-A-G c.310T>C p.Phe104Leu Missense 4/49 - 2
12-133256786-ATACGGTTTATAGGG-A c.295_308del p.Pro99Phefs*10 Frameshift 4/49 - 1
12-133256789-G-A c.305C>T p.Pro102Leu Missense 4/49 - 2
12-133256790-G-A c.304C>T p.Pro102Ser Missense 4/49 - 1
12-133256795-ATAGGGCAAAGCCAC-A c.286_299del p.Val96* SpliceAcceptorDeletion 4/49 - 1
12-133256802-A-C c.292T>G p.Leu98Val Missense 4/49 - 1
12-133256804-GC-AT c.289_290delinsAT p.Ala97Ile Missense 4/49 - 1
12-133256804-GC-CA c.289_290delinsTG p.Ala97Cys Missense 4/49 - 1
12-133256904-C-T c.286-96G>A - IntronicSNV - 3/48 2
12-133257210-C-A c.268G>T p.Asp90Tyr Missense 3/49 - 1
12-133257232-C-T c.246G>A p.Val82Val Synonymous 3/49 - 1
12-133257234-C-G c.244G>C p.Val82Leu Missense 3/49 - 1
12-133257235-T-A c.243A>T p.Ala81Ala Synonymous 3/49 - 1
12-133257235-T-C c.243A>G p.Ala81Ala Synonymous 3/49 - 1
12-133257235-T-G c.243A>C p.Ala81Ala Synonymous 3/49 - 1
12-133257235-TG-AC c.242_243delinsGT p.Ala81Gly Missense 3/49 - 1
12-133257235-TGC-AAC c.242_243delinsTT p.Ala81Val Missense 3/49 - 1
12-133257235-TGC-ATG c.241_243delinsCAT p.Ala81His Missense 3/49 - 1
12-133257235-TGC-CAT c.241_243delinsATG p.Ala81Met Missense 3/49 - 1
12-133257235-TGC-TGG c.241delinsC p.Ala81Pro Missense 3/49 - 1
12-133257235-TGC-TTT c.241_242delinsAA p.Ala81Lys Missense 3/49 - 1
12-133257236-G-A c.242C>T p.Ala81Val Missense 3/49 - 1
12-133257236-G-C c.242C>G p.Ala81Gly Missense 3/49 - 1
12-133257236-GC-AA c.241_242delinsTT p.Ala81Leu Missense 3/49 - 1
12-133257236-GC-AG c.241_242delinsCT p.Ala81Leu Missense 3/49 - 1
12-133257236-GC-AT c.241_242delinsAT p.Ala81Ile Missense 3/49 - 1
12-133257236-GC-CA c.241_242delinsTG p.Ala81* Missense 3/49 - 1
12-133257236-G-T c.242C>A p.Ala81Glu Missense 3/49 - 1
12-133257237-C-A c.241G>T p.Ala81Ser Missense 3/49 - 1
12-133257237-C-G c.241G>C p.Ala81Pro Missense 3/49 - 1
12-133257237-C-T c.241G>A p.Ala81Thr Missense 3/49 - 1
12-133257241-G-GG c.237dup p.Ser80Glnfs*11 Frameshift 3/49 - 1
12-133257242-C-A c.236G>T p.Gly79Val Missense 3/49 - 1
12-133257248-C-CC c.230dup p.Gly79Argfs*12 Frameshift 3/49 - 1
12-133257249-G-A c.229C>T p.Arg77Cys Missense 3/49 - 3
12-133257256-T-A c.222A>T p.Glu74Asp Missense 3/49 - 1
12-133257256-T-G c.222A>C p.Glu74Asp Missense 3/49 - 1
12-133257258-C-T c.220G>A p.Glu74Lys Missense 3/49 - 1
12-133257272-G-C c.206C>G p.Thr69Ser Missense 3/49 - 1
12-133257725-G-T c.203C>A p.Pro68His Missense 2/49 - 1
12-133257730-C-T c.198G>A p.Met66Ile Missense 2/49 - 1
12-133257744-A-G c.184T>C p.Trp62Arg Missense 2/49 - 1
12-133257744-A-T c.184T>A p.Trp62Arg Missense 2/49 - 1
12-133257751-C-G c.177G>C p.Lys59Asn Missense 2/49 - 1
12-133257759-C-A c.169G>T p.Gly57Cys Missense 2/49 - 1
12-133257774-G-A c.154C>T p.Arg52Trp Missense 2/49 - 1
12-133257775-C-T c.153G>A p.Glu51Glu Synonymous 2/49 - 1
12-133257777-C-G c.151G>C p.Glu51Gln Missense 2/49 - 1
12-133257781-A-AA c.150dup p.Glu51* Nonsense 2/49 - 1
12-133257788-CC-C c.141del p.Phe48Leufs*6 Frameshift 2/49 - 1
12-133257789-G-A c.139C>T p.Arg47Trp Missense 2/49 - 1
12-133257795-C-T c.133G>A p.Asp45Asn Missense 2/49 - 1
12-133257797-A-AA c.131dup p.Met44Ilefs*8 Frameshift 2/49 - 1
12-133257807-T-C c.121A>G p.Thr41Ala Missense 2/49 - 1
12-133257814-A-C c.114T>G p.Ser38Arg Missense 2/49 - 1
12-133257814-A-T c.114T>A p.Ser38Arg Missense 2/49 - 1
12-133257818-C-T c.110G>A p.Arg37Gln Missense 2/49 - 1
12-133257822-C-T c.106G>A p.Glu36Lys Missense 2/49 - 1
12-133257824-A-T c.104T>A p.Leu35Gln Missense 2/49 - 1
12-133257825-G-T c.103C>A p.Leu35Met Missense 2/49 - 1
12-133257828-G-A c.100C>T p.Arg34Cys Missense 2/49 - 4
12-133257837-C-A c.91G>T p.Ala31Ser Missense 2/49 - 2
12-133257839-G-A c.89C>T p.Ser30Leu Missense 2/49 - 2
12-133257848-G-GG c.81dup p.Ser28Leufs*16 Frameshift 2/49 - 1
12-133257853-G-A c.75C>T p.Ala25Ala Synonymous 2/49 - 1
12-133257853-G-C c.75C>G p.Ala25Ala Synonymous 2/49 - 1
12-133257853-GG-AG c.75delinsT p.Ala25Ala Missense 2/49 - 1
12-133257853-GGC-AAG c.73_75delinsCTT p.Ala25Leu Missense 2/49 - 1
12-133257853-GGC-TGG c.73_75delinsCCA p.Ala25Pro Missense 2/49 - 1
12-133257853-G-T c.75C>A p.Ala25Ala Synonymous 2/49 - 1
12-133257854-G-A c.74C>T p.Ala25Val Missense 2/49 - 1
12-133257854-G-C c.74C>G p.Ala25Gly Missense 2/49 - 1
12-133257854-GC-AT c.73_74delinsAT p.Ala25Ile Missense 2/49 - 1
12-133257854-GC-CG c.73_74delinsCG p.Ala25Arg Missense 2/49 - 1
12-133257854-GC-TA c.73_74delinsTA p.Ala25Tyr Missense 2/49 - 1
12-133257854-GC-TG c.73_74delinsCA p.Ala25His Missense 2/49 - 1
12-133257854-GC-TT c.73_74delinsAA p.Ala25Asn Missense 2/49 - 1
12-133257854-G-T c.74C>A p.Ala25Asp Missense 2/49 - 1
12-133257855-C-A c.73G>T p.Ala25Ser Missense 2/49 - 2
12-133257855-C-T c.73G>A p.Ala25Thr Missense 2/49 - 3
12-133257859-A-C c.69T>G p.Asp23Glu Missense 2/49 - 1
12-133257859-A-T c.69T>A p.Asp23Glu Missense 2/49 - 1
12-133257887-C-A c.63-22G>T - IntronicSNV - 1/48 1
12-133257887-C-T c.63-22G>A - IntronicSNV - 1/48 1
12-133262001-C-A c.62+1839G>T - IntronicSNV - 1/48 3
12-133262001-C-T c.62+1839G>A - IntronicSNV - 1/48 3
12-133263825-G-A c.62+15C>T - IntronicSNV - 1/48 2
12-133263839-C-T c.62+1G>A - IntronicSNV - 1/48 2
12-133263843-C-A c.59G>T p.Ser20Ile Missense 1/49 - 1
12-133263845-G-A c.57C>T p.Ala19Ala Synonymous 1/49 - 1
12-133263845-G-C c.57C>G p.Ala19Ala Synonymous 1/49 - 1
12-133263845-GG-AG c.57delinsT p.Ala19Ala Missense 1/49 - 1
12-133263845-GGC-AAG c.55_57delinsCTT p.Ala19Leu Missense 1/49 - 1
12-133263845-GGC-ATG c.55_57delinsCAT p.Ala19His Missense 1/49 - 1
12-133263845-GGC-CAA c.55_57delinsTTG p.Ala19Leu Missense 1/49 - 1
12-133263845-GGC-TGG c.55_57delinsCCA p.Ala19Pro Missense 1/49 - 1
12-133263845-G-T c.57C>A p.Ala19Ala Synonymous 1/49 - 1
12-133263846-G-C c.56C>G p.Ala19Gly Missense 1/49 - 2
12-133263846-GC-AA c.55_56delinsTT p.Ala19Phe Missense 1/49 - 1
12-133263846-GC-CA c.55_56delinsTG p.Ala19Cys Missense 1/49 - 1
12-133263846-GC-CT c.55_56delinsAG p.Ala19Ser Missense 1/49 - 1
12-133263846-GC-TA c.55_56delinsTA p.Ala19Tyr Missense 1/49 - 1
12-133263846-GC-TG c.55_56delinsCA p.Ala19His Missense 1/49 - 1
12-133263846-GC-TT c.55_56delinsAA p.Ala19Asn Missense 1/49 - 1
12-133263846-G-T c.56C>A p.Ala19Asp Missense 1/49 - 3
12-133263847-C-A c.55G>T p.Ala19Ser Missense 1/49 - 1
12-133263847-C-G c.55G>C p.Ala19Pro Missense 1/49 - 1
12-133263847-C-T c.55G>A p.Ala19Thr Missense 1/49 - 1
12-133263851-GC-AG c.50_51delinsCT p.Gly17Ala Missense 1/49 - 1
12-133263857-C-A c.45G>T p.Ala15Ala Synonymous 1/49 - 1
12-133263857-C-G c.45G>C p.Ala15Ala Synonymous 1/49 - 1
12-133263857-CG-AC c.44_45delinsGT p.Ala15Gly Missense 1/49 - 1
12-133263857-CGC-ATC c.44_45delinsAT p.Ala15Asp Missense 1/49 - 1
12-133263857-CGC-CAT c.43_44delinsAT p.Ala15Met Missense 1/49 - 1
12-133263857-CGC-TGT c.43_45delinsACA p.Ala15Thr Missense 1/49 - 1
12-133263857-CGC-TTT c.43_45delinsAAA p.Ala15Lys Missense 1/49 - 1
12-133263857-C-T c.45G>A p.Ala15Ala Synonymous 1/49 - 1
12-133263858-G-A c.44C>T p.Ala15Val Missense 1/49 - 1
12-133263858-G-C c.44C>G p.Ala15Gly Missense 1/49 - 1
12-133263858-GC-AA c.43_44delinsTT p.Ala15Leu Missense 1/49 - 1
12-133263858-GC-AG c.43_44delinsCT p.Ala15Leu Missense 1/49 - 1
12-133263858-GC-AT c.43_44delinsAT p.Ala15Met Missense 1/49 - 1
12-133263858-GC-CT c.43_44delinsAG p.Ala15Arg Missense 1/49 - 1
12-133263858-GC-TA c.43_44delinsTA p.Ala15* Nonsense 1/49 - 3
12-133263858-GC-TG c.43_44delinsCA p.Ala15Gln Missense 1/49 - 1
12-133263858-G-T c.44C>A p.Ala15Glu Missense 1/49 - 1
12-133263859-C-A c.43G>T p.Ala15Ser Missense 1/49 - 1
12-133263859-C-G c.43G>C p.Ala15Pro Missense 1/49 - 1
12-133263859-C-T c.43G>A p.Ala15Thr Missense 1/49 - 1
12-133263864-GG-AA c.37_38delinsTT p.Pro13Leu Missense 1/49 - 1
12-133263865-G-A c.37C>T p.Pro13Ser Missense 1/49 - 1
12-133263869-C-A c.33G>T p.Ala11Ala Synonymous 1/49 - 1
12-133263869-C-G c.33G>C p.Ala11Ala Synonymous 1/49 - 1
12-133263869-CG-AC c.32_33delinsGT p.Ala11Gly Missense 1/49 - 1
12-133263869-CGC-AAC c.32_33delinsTT p.Ala11Val Missense 1/49 - 5
12-133263869-CGC-ATC c.32_33delinsAT p.Ala11Asp Missense 1/49 - 1
12-133263869-CGC-CAT c.31_32delinsAT p.Ala11Met Missense 1/49 - 5
12-133263869-CGC-TAT c.31_33delinsATA p.Ala11Ile Missense 1/49 - 5
12-133263869-CGC-TGT c.31_33delinsACA p.Ala11Thr Missense 1/49 - 1
12-133263869-CGC-TTT c.31_33delinsAAA p.Ala11Lys Missense 1/49 - 1
12-133263869-C-T c.33G>A p.Ala11Ala Synonymous 1/49 - 1
12-133263870-G-A c.32C>T p.Ala11Val Missense 1/49 - 2
12-133263870-G-C c.32C>G p.Ala11Gly Missense 1/49 - 3
12-133263870-GC-AG c.31_32delinsCT p.Ala11Leu Missense 1/49 - 3
12-133263870-GC-AT c.31_32delinsAT p.Ala11Met Missense 1/49 - 1
12-133263870-GC-CA c.31_32delinsTG p.Ala11Trp Missense 1/49 - 1
12-133263870-GC-TA c.31_32delinsTA p.Ala11* Nonsense 1/49 - 2
12-133263870-GC-TG c.31_32delinsCA p.Ala11Gln Missense 1/49 - 1
12-133263870-G-T c.32C>A p.Ala11Glu Missense 1/49 - 5
12-133263871-C-A c.31G>T p.Ala11Ser Missense 1/49 - 1
12-133263886-C-G c.16G>C p.Gly6Arg Missense 1/49 - 1
12-133263896-A-C c.6T>G p.Ser2Ser Synonymous 1/49 - 1
12-133263896-A-G c.6T>C p.Ser2Ser Synonymous 1/49 - 1
12-133263896-A-T c.6T>A p.Ser2Ser Synonymous 1/49 - 1
12-133263901-T-A c.1A>T p.Met1? Missense 1/49 - 1