SCN1A sodium voltage-gated channel alpha subunit 1

Annotation transcript: NM_001165963.4

1449 unique variant annotations were identified in 716 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-166845794-G-A c.*1961C>T - 3-UTRSNV 29/29 - 3
2-166845891-A-T c.*1864T>A - 3-UTRSNV 29/29 - 1
2-166846016-G-A c.*1739C>T - 3-UTRSNV 29/29 - 6
2-166846730-A-G c.*1025T>C - 3-UTRSNV 29/29 - 6
2-166847761-TCCCTTTGGCTTTTTCATCTTTGCCTTCTTGCTCATGTTTTTCCACAATTGGCTTTGTCA-T c.5966_6024del p.V1989Efs*7 InFrameDeletion 29/29 - 1
2-166847798-T-A c.5987A>T p.K1996I Missense 29/29 - 1
2-166847823-G-A c.5962C>T p.R1988W Missense 29/29 - 1
2-166847856-T-A c.5929A>T p.M1977L Missense 29/29 - 1
2-166847856-T-G c.5929A>C p.M1977L Missense 29/29 - 1
2-166847884-G-C c.5901C>G p.N1967K Missense 29/29 - 1
2-166847884-G-T c.5901C>A p.N1967K Missense 29/29 - 1
2-166847915-T-C c.5870A>G p.E1957G Missense 29/29 - 2
2-166847921-A-G c.5864T>C p.I1955T Missense 29/29 - 2
2-166847979-T-C c.5806A>G p.K1936E Missense 29/29 - 2
2-166847984-G-A c.5801C>T p.T1934I Missense 29/29 - 1
2-166847988-CG-C c.5797del p.R1933Efs*3 Frameshift 29/29 - 1
2-166847988-G-A c.5797C>T p.R1933* Nonsense 29/29 - 2
2-166848003-G-A c.5782C>T p.R1928C Missense 29/29 - 1
2-166848003-G-C c.5782C>G p.R1928G Missense 29/29 - 10
2-166848006-T-C c.5779A>G p.R1927G Missense 29/29 - 2
2-166848012-C-T c.5773G>A p.A1925T Missense 29/29 - 1
2-166848014-AC-A c.5771del p.R1924Lfs*8 Frameshift 29/29 - 1
2-166848015-G-C c.5770C>G p.R1924G Missense 29/29 - 1
2-166848017-T-C c.5768A>G p.Q1923R Missense 29/29 - 7
2-166848018-G-A c.5767C>T p.Q1923* Nonsense 29/29 - 1
2-166848020-A-C c.5765T>G p.I1922S Missense 29/29 - 2
2-166848020-A-G c.5765T>C p.I1922T Missense 29/29 - 3
2-166848032-G-A c.5753C>T p.S1918F Missense 29/29 - 1
2-166848043-CTT-C c.5741_5742del p.Q1914Rfs*30 Frameshift 29/29 - 1
2-166848042-CTTG-C c.5740_5742del p.Q1914del InFrameDeletion 29/29 - 2
2-166848050-C-T c.5735G>A p.R1912Q Missense 29/29 - 1
2-166848050-TCG-T c.5734_5735del p.R1912Kfs*32 Frameshift 29/29 - 1
2-166848051-G-A c.5734C>T p.R1912* Nonsense 29/29 - 3
2-166848059-G-A c.5726C>T p.T1909I Missense 29/29 - 5
2-166848057-AAGT-A c.5725_5727del p.T1909del InFrameDeletion 29/29 - 1
2-166848071-G-A c.5714C>T p.P1905L Missense 29/29 - 2
2-166848075-G-A c.5710C>T p.Q1904* Nonsense 29/29 - 1
2-166848075-G-C c.5710C>G p.Q1904E Missense 29/29 - 1
2-166848075-G-T c.5710C>A p.Q1904K Missense 29/29 - 1
2-166848092-GG-AA c.5692_5693delinsTT p.P1898F Missense 29/29 - 1
2-166848101-G-T c.5684C>A p.A1895D Missense 29/29 - 1
2-166848104-A-C c.5681T>G p.M1894R Missense 29/29 - 1
2-166848111-G-A c.5674C>T p.R1892* Nonsense 29/29 - 2
2-166848114-C-A c.5671G>T p.E1891* Nonsense 29/29 - 1
2-166848117-C-T c.5668G>A p.E1890K Missense 29/29 - 1
2-166848129-G-A c.5656C>T p.R1886* Nonsense 29/29 - 1
2-166848142-C-A c.5643G>T p.E1881D Missense 29/29 - 1
2-166848142-C-G c.5643G>C p.E1881D Missense 29/29 - 1
2-166848144-C-A c.5641G>T p.E1881* Nonsense 29/29 - 1
2-166848146-C-T c.5639G>A p.G1880E Missense 29/29 - 3
2-166848150-T-TA c.5634_5635insT p.S1879* Nonsense 29/29 - 1
2-166848185-A-G c.5600T>C p.I1867T Missense 29/29 - 2
2-166848189-C-A c.5596G>T p.D1866Y Missense 29/29 - 15
2-166848189-C-T c.5596G>A p.D1866N Missense 29/29 - 1
2-166848189-TC-T c.5596del p.D1866Ifs*11 Frameshift 29/29 - 2
2-166848195-A-G c.5590T>C p.C1864R Missense 29/29 - 1
2-166848203-C-T c.5582G>A p.R1861Q Missense 29/29 - 1
2-166848204-G-A c.5581C>T p.R1861W Missense 29/29 - 1
2-166848213-T-C c.5572A>G p.S1858G Missense 29/29 - 1
2-166848214-C-CA c.5570dup p.S1858Efs*3 Frameshift 29/29 - 1
2-166848216-C-A c.5569G>T p.V1857L Missense 29/29 - 1
2-166848216-C-G c.5569G>C p.V1857L Missense 29/29 - 1
2-166848218-A-G c.5567T>C p.M1856T Missense 29/29 - 1
2-166848221-G-A c.5564C>T p.P1855L Missense 29/29 - 1
2-166848222-G-A c.5563C>T p.P1855S Missense 29/29 - 2
2-166848230-A-G c.5555T>C p.M1852T Missense 29/29 - 5
2-166848230-A-T c.5555T>A p.M1852K Missense 29/29 - 1
2-166848237-T-C c.5548A>G p.I1850V Missense 29/29 - 1
2-166848245-AGTTT-A c.5536_5539del p.K1846Sfs*11 Frameshift 29/29 - 6
2-166848269-A-C c.5516T>G p.L1839R Missense 29/29 - 1
2-166848269-A-G c.5516T>C p.L1839P Missense 29/29 - 1
2-166848270-G-A c.5515C>T p.L1839F Missense 29/29 - 1
2-166848272-GGCGGTTCAA-G c.5504_5512del p.L1835_P1837del InFrameDeletion 29/29 - 1
2-166848282-G-A c.5503C>T p.L1835F Missense 29/29 - 1
2-166848290-G-A c.5495C>T p.A1832V Missense 29/29 - 1
2-166848291-C-G c.5494G>C p.A1832P Missense 29/29 - 1
2-166848293-A-C c.5492T>G p.F1831C Missense 29/29 - 1
2-166848293-A-G c.5492T>C p.F1831S Missense 29/29 - 3
2-166848294-AACT-A c.5489_5491del p.Q1830_F1831delinsL MultiAAMissense 29/29 - 1
2-166848296-CTG-C c.5488_5489del p.Q1830Vfs*6 Frameshift 29/29 - 3
2-166848301-T-A c.5484A>T p.L1828F Missense 29/29 - 1
2-166848301-T-G c.5484A>C p.L1828F Missense 29/29 - 1
2-166848302-A-G c.5483T>C p.L1828S Missense 29/29 - 1
2-166848317-A-G c.5468T>C p.M1823T Missense 29/29 - 1
2-166848324-G-A c.5461C>T p.Q1821* Nonsense 29/29 - 2
2-166848329-G-T c.5456C>A p.A1819E Missense 29/29 - 1
2-166848329-TGC-T c.5455_5456del p.A1819Nfs*7 Frameshift 29/29 - 1
2-166848336-G-A c.5449C>T p.P1817S Missense 29/29 - 1
2-166848337-ATCAAACTTC-A c.5439_5447del p.E1813_F1815del InFrameDeletion 29/29 - 1
2-166848350-C-G c.5435G>C p.W1812S Missense 29/29 - 1
2-166848351-A-C c.5434T>G p.W1812G Missense 29/29 - 1
2-166848351-A-G c.5434T>C p.W1812R Missense 29/29 - 1
2-166848354-CCTCATAGAACAT-C c.5419_5430del p.M1807_E1810del InFrameDeletion 29/29 - 1
2-166848361-G-C c.5424C>G p.F1808L Missense 29/29 - 6
2-166848361-G-T c.5424C>A p.F1808L Missense 29/29 - 6
2-166848363-A-C c.5422T>G p.F1808V Missense 29/29 - 1
2-166848363-A-G c.5422T>C p.F1808L Missense 29/29 - 6
2-166848363-A-T c.5422T>A p.F1808I Missense 29/29 - 1
2-166848367-C-T c.5418G>A p.E1806= Synonymous 29/29 - 1
2-166848378-CCT-C c.5405_5406del p.E1802Gfs*2 Frameshift 29/29 - 1
2-166848384-T-TA c.5400_5401insT p.S1801* Nonsense 29/29 - 1
2-166848395-TG-T c.5390del p.A1797Efs*4 Frameshift 29/29 - 1
2-166848396-C-A c.5389G>T p.A1797S Missense 29/29 - 1
2-166848396-C-G c.5389G>C p.A1797P Missense 29/29 - 1
2-166848398-C-T c.5387G>A p.S1796N Missense 29/29 - 1
2-166848401-T-C c.5384A>G p.E1795G Missense 29/29 - 1
2-166848402-C-T c.5383G>A p.E1795K Missense 29/29 - 1
2-166848411-C-T c.5374G>A p.A1792T Missense 29/29 - 1
2-166848412-CAACA-C c.5370_5373del p.S1790Rfs*10 Frameshift 29/29 - 1
2-166848417-CTG-C c.5367_5368del p.F1789Lfs*5 Frameshift 29/29 - 1
2-166848421-G-C c.5364C>G p.N1788K Missense 29/29 - 4
2-166848421-G-T c.5364C>A p.N1788K Missense 29/29 - 4
2-166848423-T-C c.5362A>G p.N1788D Missense 29/29 - 2
2-166848426-C-T c.5359G>A p.E1787K Missense 29/29 - 1
2-166848428-A-G c.5357T>C p.L1786P Missense 29/29 - 1
2-166848429-G-C c.5356C>G p.L1786V Missense 29/29 - 1
2-166848434-A-G c.5351T>C p.V1784A Missense 29/29 - 1
2-166848437-G-A c.5348C>T p.A1783V Missense 29/29 - 17
2-166848438-C-T c.5347G>A p.A1783T Missense 29/29 - 6
2-166848439-G-C c.5346C>G p.I1782M Missense 29/29 - 1
2-166848440-A-C c.5345T>G p.I1782S Missense 29/29 - 1
2-166848443-T-C c.5342A>G p.Y1781C Missense 29/29 - 1
2-166848444-A-C c.5341T>G p.Y1781D Missense 29/29 - 1
2-166848444-A-G c.5341T>C p.Y1781H Missense 29/29 - 2
2-166848446-A-C c.5339T>G p.M1780R Missense 29/29 - 1
2-166848446-A-G c.5339T>C p.M1780T Missense 29/29 - 1
2-166848456-AC-A c.5329del p.V1777Wfs*2 Frameshift 29/29 - 1
2-166848456-C-T c.5329G>A p.V1777M Missense 29/29 - 4
2-166848464-A-G c.5321T>C p.F1774S Missense 29/29 - 1
2-166848467-G-A c.5318C>T p.S1773F Missense 29/29 - 1
2-166848467-G-T c.5318C>A p.S1773Y Missense 29/29 - 1
2-166848473-A-T c.5312T>A p.I1771N Missense 29/29 - 1
2-166848474-T-A c.5311A>T p.I1771F Missense 29/29 - 1
2-166848469-TATG-T c.5313_5315del p.I1772del InFrameDeletion 29/29 - 1
2-166848477-T-A c.5308A>T p.I1770F Missense 29/29 - 1
2-166848479-T-C c.5306A>G p.Y1769C Missense 29/29 - 1
2-166848481-A-C c.5304T>G p.S1768R Missense 29/29 - 2
2-166848481-A-T c.5304T>A p.S1768R Missense 29/29 - 1
2-166848483-T-G c.5302A>C p.S1768R Missense 29/29 - 1
2-166848486-CAAA-C c.5296_5298del p.F1766del InFrameDeletion 29/29 - 1
2-166848491-A-G c.5294T>C p.F1765S Missense 29/29 - 1
2-166848490-A-C c.5295T>G p.F1765L Missense 29/29 - 1
2-166848490-A-T c.5295T>A p.F1765L Missense 29/29 - 1
2-166848492-A-G c.5293T>C p.F1765L Missense 29/29 - 1
2-166848497-A-T c.5288T>A p.I1763N Missense 29/29 - 3
2-166848500-C-T c.5285G>A p.G1762E Missense 29/29 - 1
2-166848503-A-G c.5282T>C p.V1761A Missense 29/29 - 1
2-166848513-T-C c.5272A>G p.N1758D Missense 29/29 - 1
2-166848516-C-T c.5269G>A p.G1757R Missense 29/29 - 2
2-166848519-A-C c.5266T>G p.C1756G Missense 29/29 - 3
2-166848525-C-G c.5260G>C p.G1754R Missense 29/29 - 1
2-166848525-C-T c.5260G>A p.G1754R Missense 29/29 - 1
2-166848528-T-A c.5257A>T p.K1753* Nonsense 29/29 - 1
2-166848526-CTTAACTGAGCTTCCAGGG-C c.5241_5258del p.N1747_V1752del InFrameDeletion 29/29 - 1
2-166848539-C-T c.5246G>A p.G1749E Missense 29/29 - 5
2-166848549-C-A c.5236G>T p.V1746F Missense 29/29 - 1
2-166848560-T-C c.5225A>G p.D1742G Missense 29/29 - 3
2-166848561-C-A c.5224G>T p.D1742Y Missense 29/29 - 1
2-166848563-C-G c.5222G>C p.C1741S Missense 29/29 - 2
2-166848564-A-T c.5221T>A p.C1741S Missense 29/29 - 1
2-166848567-C-A c.5218G>T p.D1740Y Missense 29/29 - 1
2-166848569-G-A c.5216C>T p.P1739L Missense 29/29 - 2
2-166848576-T-A c.5209A>T p.K1737* Nonsense 29/29 - 1
2-166848588-T-C c.5197A>G p.I1733V Missense 29/29 - 1
2-166848590-G-A c.5195C>T p.P1732L Missense 29/29 - 3
2-166848594-C-A c.5191G>T p.A1731S Missense 29/29 - 1
2-166848602-C-G c.5183G>C p.G1728A Missense 29/29 - 1
2-166848604-A-C c.5181T>G p.D1727E Missense 29/29 - 1
2-166848604-A-T c.5181T>A p.D1727E Missense 29/29 - 1
2-166848605-T-C c.5180A>G p.D1727G Missense 29/29 - 1
2-166848606-C-A c.5179G>T p.D1727Y Missense 29/29 - 1
2-166848608-C-T c.5177G>A p.W1726* Nonsense 29/29 - 2
2-166848609-A-C c.5176T>G p.W1726G Missense 29/29 - 1
2-166848609-A-G c.5176T>C p.W1726R Missense 29/29 - 1
2-166848609-A-T c.5176T>A p.W1726R Missense 29/29 - 1
2-166848612-C-A c.5173G>T p.G1725C Missense 29/29 - 3
2-166848615-C-G c.5170G>C p.A1724P Missense 29/29 - 1
2-166848615-C-T c.5170G>A p.A1724T Missense 29/29 - 1
2-166848621-T-C c.5164A>G p.T1722A Missense 29/29 - 3
2-166848623-G-C c.5162C>G p.T1721R Missense 29/29 - 1
2-166848632-A-G c.5153T>C p.F1718S Missense 29/29 - 1
2-166848635-A-C c.5150T>G p.L1717R Missense 29/29 - 1
2-166848635-A-G c.5150T>C p.L1717P Missense 29/29 - 2
2-166848639-A-G c.5146T>C p.C1716R Missense 29/29 - 1
2-166848644-A-C c.5141T>G p.M1714R Missense 29/29 - 1
2-166848644-A-T c.5141T>A p.M1714K Missense 29/29 - 1
2-166848645-T-C c.5140A>G p.M1714V Missense 29/29 - 1
2-166848647-C-G c.5138G>C p.S1713T Missense 29/29 - 1
2-166848647-C-T c.5138G>A p.S1713N Missense 29/29 - 2
2-166848658-GG-CA c.5126_5127delinsTG p.T1709M Missense 29/29 - 2
2-166848658-GG-CC c.5126_5127inv p.T1709R Missense 29/29 - 2
2-166848659-G-A c.5126C>T p.T1709I Missense 29/29 - 5
2-166848666-A-C c.5119T>G p.F1707V Missense 29/29 - 1
2-166848672-A-T c.5113T>A p.F1705I Missense 29/29 - 1
2-166848677-T-G c.5108A>C p.D1703A Missense 29/29 - 1
2-166848681-C-A c.5104G>T p.D1702Y Missense 29/29 - 1
2-166848693-C-A c.5092G>T p.E1698* Nonsense 29/29 - 1
2-166848702-C-G c.5083G>C p.V1695L Missense 29/29 - 1
2-166848704-T-C c.5081A>G p.Y1694C Missense 29/29 - 2
2-166848707-G-T c.5078C>A p.A1693D Missense 29/29 - 1
2-166848710-A-G c.5075T>C p.F1692S Missense 29/29 - 1
2-166848710-A-T c.5075T>A p.F1692Y Missense 29/29 - 1
2-166848716-GA-C c.5068_5069delinsG p.S1690Afs*25 Frameshift 29/29 - 1
2-166848723-C-A c.5062G>T p.G1688W Missense 29/29 - 1
2-166848725-A-G c.5060T>C p.F1687S Missense 29/29 - 2
2-166848730-G-A c.5055C>T p.A1685= Synonymous 29/29 - 1
2-166848731-G-A c.5054C>T p.A1685V Missense 29/29 - 9
2-166848731-G-T c.5054C>A p.A1685D Missense 29/29 - 2
2-166848732-C-A c.5053G>T p.A1685S Missense 29/29 - 1
2-166848732-C-T c.5053G>A p.A1685T Missense 29/29 - 1
2-166848734-T-G c.5051A>C p.Y1684S Missense 29/29 - 1
2-166848735-A-C c.5050T>G p.Y1684D Missense 29/29 - 1
2-166848737-A-G c.5048T>C p.I1683T Missense 29/29 - 2
2-166848738-T-A c.5047A>T p.I1683F Missense 29/29 - 1
2-166848745-TG-T c.5040del p.M1681Cfs*34 Frameshift 29/29 - 1
2-166848749-AG-A c.5035del p.L1679* Frameshift 29/29 - 1
2-166848756-G-A c.5029C>T p.L1677F Missense 29/29 - 2
2-166848757-TAG-AAA c.5026_5028delinsTTT p.L1676F Missense 29/29 - 1
2-166848761-A-C c.5024T>G p.L1675R Missense 29/29 - 1
2-166848759-GGAGGCC-G c.5020_5025del p.G1674_L1675del InFrameDeletion 29/29 - 1
2-166848765-C-G c.5020G>C p.G1674R Missense 29/29 - 6
2-166848765-C-T c.5020G>A p.G1674S Missense 29/29 - 1
2-166848767-A-G c.5018T>C p.I1673T Missense 29/29 - 1
2-166848767-A-T c.5018T>A p.I1673N Missense 29/29 - 1
2-166848767-ATGT-A c.5015_5017del p.N1672del InFrameDeletion 29/29 - 1
2-166848771-TAAAC-T c.5010_5013del p.F1671Tfs*8 Frameshift 29/29 - 2
2-166848776-AA-GT c.5008_5009delinsAC p.L1670T Missense 29/29 - 1
2-166848776-A-C c.5009T>G p.L1670W Missense 29/29 - 6
2-166848776-A-G c.5009T>C p.L1670S Missense 29/29 - 1
2-166848778-C-T c.5007G>A p.A1669= Synonymous 29/29 - 1
2-166848779-G-T c.5006C>A p.A1669E Missense 29/29 - 2
2-166848780-C-T c.5005G>A p.A1669T Missense 29/29 - 1
2-166848782-G-A c.5003C>T p.P1668L Missense 29/29 - 1
2-166848782-G-C c.5003C>G p.P1668R Missense 29/29 - 1
2-166848783-G-C c.5002C>G p.P1668A Missense 29/29 - 2
2-166848785-A-G c.5000T>C p.L1667P Missense 29/29 - 1
2-166848788-G-A c.4997C>T p.S1666F Missense 29/29 - 1
2-166848794-A-T c.4991T>A p.M1664K Missense 29/29 - 2
2-166848797-A-C c.4988T>G p.L1663W Missense 29/29 - 1
2-166848800-G-A c.4985C>T p.A1662V Missense 29/29 - 2
2-166848795-TCAAAG-T c.4985_4989del p.A1662Dfs*9 Frameshift 29/29 - 1
2-166848803-A-G c.4982T>C p.F1661S Missense 29/29 - 11
2-166848802-A-C c.4983T>G p.F1661L Missense 29/29 - 3
2-166848802-A-T c.4983T>A p.F1661L Missense 29/29 - 3
2-166848804-A-G c.4981T>C p.F1661L Missense 29/29 - 3
2-166848806-A-G c.4979T>C p.L1660P Missense 29/29 - 1
2-166848806-AG-TA c.4978_4979delinsTA p.L1660Y Missense 29/29 - 1
2-166848810-G-A c.4975C>T p.L1659= Synonymous 29/29 - 1
2-166848811-C-A c.4974G>T p.T1658= Synonymous 29/29 - 1
2-166848811-C-G c.4974G>C p.T1658= Synonymous 29/29 - 1
2-166848811-C-T c.4974G>A p.T1658= Synonymous 29/29 - 1
2-166848812-G-A c.4973C>T p.T1658M Missense 29/29 - 3
2-166848812-G-C c.4973C>G p.T1658R Missense 29/29 - 4
2-166848812-G-T c.4973C>A p.T1658K Missense 29/29 - 1
2-166848815-C-T c.4970G>A p.R1657H Missense 29/29 - 2
2-166848816-G-A c.4969C>T p.R1657C Missense 29/29 - 13
2-166848817-G-C c.4968C>G p.I1656M Missense 29/29 - 11
2-166848827-G-T c.4958C>A p.A1653E Missense 29/29 - 1
2-166848839-A-T c.4946T>A p.L1649Q Missense 29/29 - 16
2-166848842-C-T c.4943G>A p.R1648H Missense 29/29 - 80
2-166848843-G-A c.4942C>T p.R1648C Missense 29/29 - 17
2-166848851-C-T c.4934G>A p.R1645Q Missense 29/29 - 4
2-166848852-G-A c.4933C>T p.R1645* Nonsense 29/29 - 10
2-166848852-G-C c.4933C>G p.R1645G Missense 29/29 - 1
2-166848859-C-A c.4926G>T p.R1642S Missense 29/29 - 3
2-166848859-C-G c.4926G>C p.R1642S Missense 29/29 - 4
2-166848860-C-A c.4925G>T p.R1642M Missense 29/29 - 1
2-166848869-C-G c.4916G>C p.R1639P Missense 29/29 - 1
2-166848870-G-C c.4915C>G p.R1639G Missense 29/29 - 1
2-166848871-GGATC-G c.4911_4914del p.I1638Vfs*11 Frameshift 29/29 - 1
2-166848872-A-G c.4913T>C p.I1638T Missense 29/29 - 3
2-166848872-A-T c.4913T>A p.I1638N Missense 29/29 - 2
2-166848875-A-T c.4910T>A p.V1637E Missense 29/29 - 1
2-166848878-C-G c.4907G>C p.R1636P Missense 29/29 - 2
2-166848878-C-T c.4907G>A p.R1636Q Missense 29/29 - 7
2-166848879-G-A c.4906C>T p.R1636* Nonsense 29/29 - 3
2-166848884-AG-A c.4900del p.L1634Cfs*4 Frameshift 29/29 - 1
2-166848891-G-A c.4894C>T p.P1632S Missense 29/29 - 7
2-166848893-G-C c.4892C>G p.S1631C Missense 29/29 - 1
2-166848896-A-C c.4889T>G p.V1630G Missense 29/29 - 1
2-166848897-C-A c.4888G>T p.V1630L Missense 29/29 - 1
2-166848897-C-G c.4888G>C p.V1630L Missense 29/29 - 1
2-166848897-C-T c.4888G>A p.V1630M Missense 29/29 - 1
2-166848914-A-C c.4871T>G p.L1624R Missense 29/29 - 1
2-166848914-A-G c.4871T>C p.L1624P Missense 29/29 - 3
2-166848914-A-T c.4871T>A p.L1624Q Missense 29/29 - 2
2-166848916-C-A c.4869G>T p.E1623D Missense 29/29 - 1
2-166848916-C-G c.4869G>C p.E1623D Missense 29/29 - 1
2-166848917-T-A c.4868A>T p.E1623V Missense 29/29 - 1
2-166848917-T-C c.4868A>G p.E1623G Missense 29/29 - 1
2-166848917-T-G c.4868A>C p.E1623A Missense 29/29 - 1
2-166848918-C-G c.4867G>C p.E1623Q Missense 29/29 - 1
2-166848918-C-T c.4867G>A p.E1623K Missense 29/29 - 1
2-166848922-AAG-CCA c.4861_4863delinsTGG p.L1621W Missense 29/29 - 1
2-166848928-AC-A c.4857del p.M1619Ifs*6 Frameshift 29/29 - 1
2-166848930-T-C c.4855A>G p.M1619V Missense 29/29 - 2
2-166850656-C-G c.4852G>C p.G1618R Missense 28/29 - 1
2-166850656-C-T c.4852G>A p.G1618S Missense 28/29 - 1
2-166850656-C-CTGCA c.4851_4852insTGCA p.G1618Cfs*26 SpliceDonorInsertion 28/29 - 1
2-166850672-TG-T c.4836del p.I1613Ffs*5 Frameshift 28/29 - 1
2-166850674-C-A c.4834G>T p.V1612F Missense 28/29 - 2
2-166850674-C-T c.4834G>A p.V1612I Missense 28/29 - 8
2-166850677-C-A c.4831G>T p.V1611F Missense 28/29 - 5
2-166850685-T-C c.4823A>G p.D1608G Missense 28/29 - 3
2-166850686-C-A c.4822G>T p.D1608Y Missense 28/29 - 6
2-166850694-T-A c.4814A>T p.N1605I Missense 28/29 - 1
2-166850694-T-C c.4814A>G p.N1605S Missense 28/29 - 1
2-166850695-TC-T c.4812del p.W1604* Frameshift 28/29 - 1
2-166850697-C-T c.4811G>A p.W1604* Nonsense 28/29 - 1
2-166850698-A-C c.4810T>G p.W1604G Missense 28/29 - 1
2-166850707-T-G c.4801A>C p.T1601P Missense 28/29 - 1
2-166850712-AT-A c.4796del p.Y1599Ffs*19 Frameshift 28/29 - 1
2-166850715-T-A c.4793A>T p.Y1598F Missense 28/29 - 1
2-166850721-C-A c.4787G>T p.R1596L Missense 28/29 - 2
2-166850721-C-T c.4787G>A p.R1596H Missense 28/29 - 5
2-166850722-G-A c.4786C>T p.R1596C Missense 28/29 - 9
2-166850727-G-T c.4781C>A p.S1594Y Missense 28/29 - 1
2-166850729-G-C c.4779C>G p.I1593M Missense 28/29 - 1
2-166850730-A-T c.4778T>A p.I1593N Missense 28/29 - 1
2-166850733-A-G c.4775T>C p.L1592P Missense 28/29 - 1
2-166850733-A-T c.4775T>A p.L1592H Missense 28/29 - 1
2-166850739-A-G c.4769T>C p.L1590P Missense 28/29 - 1
2-166850742-A-C c.4766T>G p.V1589G Missense 28/29 - 1
2-166850742-A-G c.4766T>C p.V1589A Missense 28/29 - 1
2-166850746-A-G c.4762T>C p.C1588R Missense 28/29 - 4
2-166850746-CA-C c.4762del p.C1588Vfs*3 Frameshift 28/29 - 1
2-166850749-C-T c.4759G>A p.E1587K Missense 28/29 - 1
2-166850751-C-T c.4757G>A p.G1586E Missense 28/29 - 1
2-166850750-TC-T c.4757del p.G1586Efs*5 Frameshift 28/29 - 1
2-166850754-AG-A c.4754del p.T1585Mfs*6 Frameshift 28/29 - 1
2-166850761-G-A c.4747C>T p.L1583= Synonymous 28/29 - 1
2-166850763-A-T c.4745T>A p.V1582E Missense 28/29 - 1
2-166850767-T-C c.4741A>G p.I1581V Missense 28/29 - 1
2-166850772-A-G c.4736T>C p.V1579A Missense 28/29 - 1
2-166850772-A-T c.4736T>A p.V1579E Missense 28/29 - 1
2-166850781-A-G c.4727T>C p.I1576T Missense 28/29 - 1
2-166850785-G-A c.4723C>T p.R1575C Missense 28/29 - 6
2-166850790-A-G c.4718T>C p.L1573S Missense 28/29 - 1
2-166850820-TCTGTTTCCA-T c.4679_4687del p.V1560_T1562del InFrameDeletion 28/29 - 1
2-166850827-C-T c.4681G>A p.E1561K Missense 28/29 - 4
2-166850832-A-G c.4676T>C p.M1559T Missense 28/29 - 1
2-166850830-CCAT-C c.4675_4677del p.M1559del InFrameDeletion 28/29 - 1
2-166850844-A-C c.4664T>G p.M1555R Missense 28/29 - 1
2-166850846-TG-T c.4662del p.N1554Kfs*5 Frameshift 28/29 - 1
2-166850850-A-G c.4658T>C p.L1553P Missense 28/29 - 1
2-166850853-C-T c.4655G>A p.C1552Y Missense 28/29 - 1
2-166850875-T-C c.4633A>G p.I1545V Missense 28/29 - 2
2-166850877-T-C c.4631A>G p.D1544G Missense 28/29 - 2
2-166850877-T-G c.4631A>C p.D1544A Missense 28/29 - 3
2-166850881-A-G c.4627T>C p.F1543L Missense 28/29 - 1
2-166850896-C-T c.4612G>A p.V1538I Missense 28/29 - 3
2-166850914-C-A c.4594G>T p.G1532* Nonsense 28/29 - 1
2-166851180-C-T c.4582-254G>A - IntronicSNV - 27/28 1
2-166851844-C-T c.4581+679G>A - IntronicSNV - 27/28 1
2-166852527-G-A c.4577C>T p.P1526L Missense 27/29 - 1
2-166852530-CG-TC c.4573_4574delinsGA p.R1525E Missense 27/29 - 1
2-166852530-C-T c.4574G>A p.R1525Q Missense 27/29 - 1
2-166852531-G-A c.4573C>T p.R1525* Nonsense 27/29 - 7
2-166852532-AG-A c.4571del p.P1524Lfs*15 Frameshift 27/29 - 1
2-166852534-G-T c.4570C>A p.P1524T Missense 27/29 - 1
2-166852536-A-G c.4568T>C p.I1523T Missense 27/29 - 3
2-166852541-GCT-G c.4562_4563del p.K1521Tfs*15 Frameshift 27/29 - 1
2-166852546-TG-T c.4558del p.Q1520Kfs*19 Frameshift 27/29 - 2
2-166852548-G-A c.4556C>T p.P1519L Missense 27/29 - 1
2-166852549-G-A c.4555C>T p.P1519S Missense 27/29 - 1
2-166852557-G-A c.4547C>T p.S1516L Missense 27/29 - 2
2-166852557-G-T c.4547C>A p.S1516* Nonsense 27/29 - 4
2-166852559-T-A c.4545A>T p.G1515= Synonymous 27/29 - 1
2-166852559-T-C c.4545A>G p.G1515= Synonymous 27/29 - 1
2-166852559-T-G c.4545A>C p.G1515= Synonymous 27/29 - 1
2-166852563-A-G c.4541T>C p.L1514S Missense 27/29 - 1
2-166852564-A-AT c.4539dup p.L1514Ifs*23 Frameshift 27/29 - 2
2-166852572-A-T c.4532T>A p.M1511K Missense 27/29 - 2
2-166852575-G-T c.4529C>A p.A1510E Missense 27/29 - 1
2-166852583-G-C c.4521C>G p.Y1507* Nonsense 27/29 - 2
2-166852589-C-A c.4515G>T p.K1505N Missense 27/29 - 1
2-166852589-C-G c.4515G>C p.K1505N Missense 27/29 - 1
2-166852591-T-A c.4513A>T p.K1505* Nonsense 27/29 - 1
2-166852591-T-G c.4513A>C p.K1505Q Missense 27/29 - 1
2-166852597-C-A c.4507G>T p.E1503* Nonsense 27/29 - 1
2-166852597-C-T c.4507G>A p.E1503K Missense 27/29 - 2
2-166852594-GTTC-G c.4507_4509del p.E1503del InFrameDeletion 27/29 - 1
2-166852601-CT-C c.4503del p.E1502Kfs*10 Frameshift 27/29 - 1
2-166852602-G-A c.4502C>T p.T1501I Missense 27/29 - 1
2-166852604-C-T c.4500G>A p.M1500I Missense 27/29 - 1
2-166852606-T-C c.4498A>G p.M1500V Missense 27/29 - 2
2-166852606-TA-T c.4497del p.F1499Lfs*2 Frameshift 27/29 - 1
2-166852607-A-C c.4497T>G p.F1499L Missense 27/29 - 2
2-166852607-A-T c.4497T>A p.F1499L Missense 27/29 - 2
2-166852609-A-G c.4495T>C p.F1499L Missense 27/29 - 6
2-166852610-G-C c.4494C>G p.I1498M Missense 27/29 - 4
2-166852615-C-T c.4489G>A p.D1497N Missense 27/29 - 1
2-166852615-CT-C c.4488del p.D1497Tfs*4 Frameshift 27/29 - 2
2-166852619-A-C c.4485T>G p.G1495= Synonymous 27/29 - 1
2-166852622-T-C c.4482A>G p.G1494= Synonymous 27/29 - 1
2-166852623-C-T c.4481G>A p.G1494E Missense 27/29 - 1
2-166854557-C-A c.4467G>T p.Q1489H Missense 26/29 - 6
2-166854557-C-G c.4467G>C p.Q1489H Missense 26/29 - 7
2-166854559-G-T c.4465C>A p.Q1489K Missense 26/29 - 17
2-166854566-G-C c.4458C>G p.F1486L Missense 26/29 - 3
2-166854566-G-T c.4458C>A p.F1486L Missense 26/29 - 3
2-166854568-A-C c.4456T>G p.F1486V Missense 26/29 - 1
2-166854568-A-G c.4456T>C p.F1486L Missense 26/29 - 3
2-166854571-T-A c.4453A>T p.N1485Y Missense 26/29 - 1
2-166854571-T-C c.4453A>G p.N1485D Missense 26/29 - 1
2-166854573-T-C c.4451A>G p.D1484G Missense 26/29 - 1
2-166854575-CTAT-C c.4447_4449del p.I1483del InFrameDeletion 26/29 - 1
2-166854575-CT-C c.4449del p.I1483Mfs*18 Frameshift 26/29 - 1
2-166854585-C-A c.4439G>T p.G1480V Missense 26/29 - 2
2-166854589-T-C c.4435A>G p.I1479V Missense 26/29 - 1
2-166854596-G-C c.4428C>G p.N1476K Missense 26/29 - 2
2-166854596-G-T c.4428C>A p.N1476K Missense 26/29 - 2
2-166854597-T-C c.4427A>G p.N1476S Missense 26/29 - 1
2-166854606-A-C c.4418T>G p.F1473C Missense 26/29 - 2
2-166854606-A-G c.4418T>C p.F1473S Missense 26/29 - 2
2-166854604-TGAA-T c.4417_4419del p.F1473del InFrameDeletion 26/29 - 1
2-166854612-G-A c.4412C>T p.S1471F Missense 26/29 - 2
2-166854616-C-A c.4408G>T p.G1470W Missense 26/29 - 2
2-166854634-C-A c.4390G>T p.V1464F Missense 26/29 - 1
2-166854634-CAAAGT-C c.4385_4389del p.Y1462Cfs*22 Frameshift 26/29 - 1
2-166854639-T-C c.4385A>G p.Y1462C Missense 26/29 - 3
2-166854640-A-G c.4384T>C p.Y1462H Missense 26/29 - 4
2-166854639-T-TA c.4384dup p.Y1462Lfs*24 Frameshift 26/29 - 1
2-166854643-G-T c.4381C>A p.L1461I Missense 26/29 - 1
2-166854650-G-T c.4374C>A p.Y1458* Nonsense 26/29 - 1
2-166854654-A-C c.4370T>G p.L1457R Missense 26/29 - 1
2-166854661-C-T c.4363G>A p.E1455K Missense 26/29 - 1
2-166854664-C-T c.4360G>A p.E1454K Missense 26/29 - 3
2-166854666-T-C c.4358A>G p.Y1453C Missense 26/29 - 1
2-166854668-ACTTAG-A c.4352_4356del p.P1451Lfs*2 Frameshift 26/29 - 1
2-166854672-G-A c.4352C>T p.P1451L Missense 26/29 - 2
2-166854673-G-A c.4351C>T p.P1451S Missense 26/29 - 1
2-166854673-G-T c.4351C>A p.P1451T Missense 26/29 - 2
2-166854675-T-C c.4349A>G p.Q1450R Missense 26/29 - 2
2-166854676-G-T c.4348C>A p.Q1450K Missense 26/29 - 2
2-166856243-T-A c.4328A>T p.D1443V Missense 25/29 - 1
2-166856244-C-T c.4327G>A p.D1443N Missense 25/29 - 1
2-166856245-AAC-CAT c.4324_4326delinsATG p.V1442M Missense 25/29 - 1
2-166856247-C-T c.4324G>A p.V1442I Missense 25/29 - 1
2-166856250-C-G c.4321G>C p.A1441P Missense 25/29 - 2
2-166856250-C-T c.4321G>A p.A1441T Missense 25/29 - 1
2-166856252-G-A c.4319C>T p.A1440V Missense 25/29 - 3
2-166856252-G-C c.4319C>G p.A1440G Missense 25/29 - 1
2-166856258-A-G c.4313T>C p.M1438T Missense 25/29 - 2
2-166856258-A-T c.4313T>A p.M1438K Missense 25/29 - 2
2-166856260-T-C c.4311A>G p.I1437M Missense 25/29 - 1
2-166856270-C-T c.4301G>A p.W1434* Nonsense 25/29 - 1
2-166856271-A-G c.4300T>C p.W1434R Missense 25/29 - 1
2-166856271-A-T c.4300T>A p.W1434R Missense 25/29 - 1
2-166856273-C-A c.4298G>T p.G1433V Missense 25/29 - 3
2-166856273-C-T c.4298G>A p.G1433E Missense 25/29 - 4
2-166856274-C-G c.4297G>C p.G1433R Missense 25/29 - 3
2-166856274-C-T c.4297G>A p.G1433R Missense 25/29 - 3
2-166856275-T-C c.4296A>G p.K1432= Synonymous 25/29 - 1
2-166856276-T-A c.4295A>T p.K1432I Missense 25/29 - 1
2-166856274-CT-C c.4296del p.G1433Dfs*5 Frameshift 25/29 - 1
2-166856280-A-T c.4291T>A p.F1431I Missense 25/29 - 1
2-166856284-TGGC-T c.4285_4287del p.A1429del InFrameDeletion 25/29 - 1
2-166856285-G-T c.4286C>A p.A1429D Missense 25/29 - 2
2-166856286-C-A c.4285G>T p.A1429S Missense 25/29 - 1
2-166857000-C-A c.4285-714G>T - IntronicSNV - 24/28 1
2-166858391-T-C c.4284+591A>G - IntronicSNV - 24/28 4
2-166858982-CAACTTGAAGCAAAGAGAGATACCCAAATCCTACATTATCAAAGTTTACTTTCACATTTT-C c.4226_4284del p.K1409Sfs*15 InFrameDeletion 24/29 - 1
2-166858983-A-G c.4283T>C p.V1428A Missense 24/29 - 1
2-166858984-C-A c.4282G>T p.V1428F Missense 24/29 - 1
2-166858984-C-T c.4282G>A p.V1428I Missense 24/29 - 1
2-166858986-T-G c.4280A>C p.Q1427P Missense 24/29 - 1
2-166858999-G-A c.4267C>T p.L1423F Missense 24/29 - 1
2-166859001-T-C c.4265A>G p.Y1422C Missense 24/29 - 3
2-166859004-C-T c.4262G>A p.G1421E Missense 24/29 - 1
2-166859005-C-A c.4261G>T p.G1421W Missense 24/29 - 4
2-166859005-C-G c.4261G>C p.G1421R Missense 24/29 - 1
2-166859005-C-T c.4261G>A p.G1421R Missense 24/29 - 1
2-166859013-A-C c.4253T>G p.V1418G Missense 24/29 - 1
2-166859016-T-C c.4250A>G p.N1417S Missense 24/29 - 1
2-166859017-T-G c.4249A>C p.N1417H Missense 24/29 - 4
2-166859019-T-C c.4247A>G p.D1416G Missense 24/29 - 2
2-166859020-C-A c.4246G>T p.D1416Y Missense 24/29 - 1
2-166859020-C-G c.4246G>C p.D1416H Missense 24/29 - 1
2-166859022-A-C c.4244T>G p.F1415C Missense 24/29 - 1
2-166859022-A-T c.4244T>A p.F1415Y Missense 24/29 - 1
2-166859023-A-T c.4243T>A p.F1415I Missense 24/29 - 7
2-166859024-G-C c.4242C>G p.N1414K Missense 24/29 - 1
2-166859026-T-A c.4240A>T p.N1414Y Missense 24/29 - 1
2-166859026-T-C c.4240A>G p.N1414D Missense 24/29 - 1
2-166859031-T-TTA c.4234_4235insTA p.K1412Ifs*3 Frameshift 24/29 - 1
2-166859040-T-C c.4226A>G p.K1409R Missense 24/29 - 1
2-166859036-AT-A c.4229del p.N1410Mfs*2 Frameshift 24/29 - 2
2-166859043-C-T c.4223G>A p.W1408* Nonsense 24/29 - 2
2-166859047-G-A c.4219C>T p.R1407* Nonsense 24/29 - 58
2-166859050-C-T c.4216G>A p.A1406T Missense 24/29 - 1
2-166859058-T-C c.4208A>G p.N1403S Missense 24/29 - 1
2-166859057-ATTTC-A c.4205_4208del p.R1402Mfs*9 Frameshift 24/29 - 2
2-166859065-C-G c.4201G>C p.E1401Q Missense 24/29 - 1
2-166859067-AT-A c.4198del p.I1400* Frameshift 24/29 - 1
2-166859078-G-T c.4188C>A p.C1396* Nonsense 24/29 - 1
2-166859079-C-T c.4187G>A p.C1396Y Missense 24/29 - 1
2-166859080-A-C c.4186T>G p.C1396G Missense 24/29 - 1
2-166859084-A-G c.4182T>C p.T1394= Synonymous 24/29 - 1
2-166859085-G-A c.4181C>T p.T1394I Missense 24/29 - 1
2-166859085-G-C c.4181C>G p.T1394S Missense 24/29 - 1
2-166859086-T-A c.4180A>T p.T1394S Missense 24/29 - 1
2-166859087-A-G c.4179T>C p.H1393= Synonymous 24/29 - 1
2-166859088-T-G c.4178A>C p.H1393P Missense 24/29 - 1
2-166859090-A-T c.4176T>A p.N1392K Missense 24/29 - 1
2-166859094-T-C c.4172A>G p.N1391S Missense 24/29 - 1
2-166859095-T-G c.4171A>C p.N1391H Missense 24/29 - 1
2-166859098-C-T c.4168G>A p.V1390M Missense 24/29 - 5
2-166859108-G-A c.4158C>T p.D1386= Synonymous 24/29 - 1
2-166859108-G-C c.4158C>G p.D1386E Missense 24/29 - 1
2-166859108-G-T c.4158C>A p.D1386E Missense 24/29 - 1
2-166859109-T-C c.4157A>G p.D1386G Missense 24/29 - 1
2-166859111-A-G c.4155T>C p.F1385= Synonymous 24/29 - 1
2-166859113-A-C c.4153T>G p.F1385V Missense 24/29 - 1
2-166859114-C-A c.4152G>T p.R1384S Missense 24/29 - 1
2-166859114-C-G c.4152G>C p.R1384S Missense 24/29 - 1
2-166859123-CA-C c.4143del p.G1382Vfs*9 Frameshift 24/29 - 1
2-166859133-T-G c.4133A>C p.N1378T Missense 24/29 - 1
2-166859137-TAC-T c.4127_4128del p.C1376Yfs*2 Frameshift 24/29 - 1
2-166859140-A-G c.4126T>C p.C1376R Missense 24/29 - 1
2-166859152-T-C c.4114A>G p.K1372E Missense 24/29 - 1
2-166859154-C-A c.4112G>T p.G1371V Missense 24/29 - 1
2-166859154-C-G c.4112G>C p.G1371A Missense 24/29 - 1
2-166859158-C-G c.4108G>C p.A1370P Missense 24/29 - 1
2-166859165-A-C c.4101T>G p.N1367K Missense 24/29 - 1
2-166859165-A-T c.4101T>A p.N1367K Missense 24/29 - 1
2-166859170-C-T c.4096G>A p.V1366I Missense 24/29 - 3
2-166859173-C-A c.4093G>T p.G1365C Missense 24/29 - 1
2-166859178-A-T c.4088T>A p.I1363N Missense 24/29 - 1
2-166859187-A-C c.4079T>G p.I1360S Missense 24/29 - 1
2-166859193-C-G c.4073G>C p.W1358S Missense 24/29 - 1
2-166859194-A-G c.4072T>C p.W1358R Missense 24/29 - 1
2-166859194-A-T c.4072T>A p.W1358R Missense 24/29 - 1
2-166859195-G-C c.4071C>G p.F1357L Missense 24/29 - 1
2-166859195-G-T c.4071C>A p.F1357L Missense 24/29 - 1
2-166859197-A-G c.4069T>C p.F1357L Missense 24/29 - 1
2-166859202-A-G c.4064T>C p.L1355P Missense 24/29 - 1
2-166859204-A-G c.4062T>C p.C1354= Synonymous 24/29 - 1
2-166859204-GA-G c.4062del p.I1356Yfs*4 Frameshift 24/29 - 1
2-166859207-AAC-CAT c.4057_4059delinsATG p.V1353M Missense 24/29 - 1
2-166859209-C-G c.4057G>C p.V1353L Missense 24/29 - 11
2-166859209-C-T c.4057G>A p.V1353I Missense 24/29 - 1
2-166859217-A-C c.4049T>G p.V1350G Missense 24/29 - 1
2-166859217-A-G c.4049T>C p.V1350A Missense 24/29 - 1
2-166859226-A-G c.4040T>C p.I1347T Missense 24/29 - 1
2-166859232-G-A c.4034C>T p.P1345L Missense 24/29 - 1
2-166859233-G-A c.4033C>T p.P1345S Missense 24/29 - 4
2-166859234-A-C c.4032T>G p.I1344M Missense 24/29 - 1
2-166859248-G-A c.4018C>T p.L1340F Missense 24/29 - 1
2-166859247-AG-A c.4018del p.L1340Ffs*2 Frameshift 24/29 - 2
2-166859250-G-A c.4016C>T p.A1339V Missense 24/29 - 2
2-166859253-T-G c.4013A>C p.N1338T Missense 24/29 - 1
2-166859263-C-T c.4003G>A p.V1335M Missense 24/29 - 2
2-166865798-A-G c.4002+431T>C - IntronicSNV - 23/28 2
2-166866230-C-A c.4001G>T p.R1334M Missense 23/29 - 1
2-166866242-A-AGGGTAAGGTATCCCATCACCTC c.3988_3989insGAGGTGATGGGATACCTTACCC p.F1330* Nonsense 23/29 - 1
2-166866245-C-T c.3986G>A p.R1329Q Missense 23/29 - 1
2-166866246-G-A c.3985C>T p.R1329* Nonsense 23/29 - 2
2-166866249-A-G c.3982T>C p.S1328P Missense 23/29 - 7
2-166866250-AT-A c.3981del p.L1327Ffs*7 Frameshift 23/29 - 1
2-166866254-G-A c.3977C>T p.A1326V Missense 23/29 - 1
2-166866254-G-T c.3977C>A p.A1326D Missense 23/29 - 1
2-166866255-C-A c.3976G>T p.A1326S Missense 23/29 - 1
2-166866255-C-G c.3976G>C p.A1326P Missense 23/29 - 1
2-166866257-C-G c.3974G>C p.R1325T Missense 23/29 - 1
2-166866258-T-C c.3973A>G p.R1325G Missense 23/29 - 1
2-166866263-G-C c.3968C>G p.P1323R Missense 23/29 - 1
2-166866263-G-T c.3968C>A p.P1323H Missense 23/29 - 1
2-166866266-C-T c.3965G>A p.R1322K Missense 23/29 - 1
2-166866275-CT-TG c.3955_3956delinsCA p.R1319Q Missense 23/29 - 2
2-166866283-C-A c.3948G>T p.R1316S Missense 23/29 - 1
2-166866283-C-G c.3948G>C p.R1316S Missense 23/29 - 1
2-166866285-T-A c.3946A>T p.R1316W Missense 23/29 - 1
2-166866285-T-C c.3946A>G p.R1316G Missense 23/29 - 1
2-166866288-G-C c.3943C>G p.L1315V Missense 23/29 - 1
2-166866296-A-AT c.3934dup p.I1312Nfs*20 Frameshift 23/29 - 1
2-166866303-C-A c.3928G>T p.G1310* Nonsense 23/29 - 1
2-166866306-G-A c.3925C>T p.L1309F Missense 23/29 - 2
2-166866307-T-A c.3924A>T p.E1308D Missense 23/29 - 6
2-166866307-T-G c.3924A>C p.E1308D Missense 23/29 - 4
2-166866325-A-AT c.3905dup p.N1302Kfs*30 Frameshift 23/29 - 2
2-166866345-A-T c.3886T>A p.L1296M Missense 23/29 - 4
2-166868630-A-C c.3868T>G p.L1290V Missense 22/29 - 1
2-166868628-TAAG-T c.3867_3869del p.F1289del InFrameDeletion 22/29 - 2
2-166868636-C-T c.3862G>A p.D1288N Missense 22/29 - 2
2-166868638-A-G c.3860T>C p.L1287P Missense 22/29 - 1
2-166868640-C-T c.3858G>A p.W1286* Nonsense 22/29 - 1
2-166868641-C-T c.3857G>A p.W1286* Nonsense 22/29 - 1
2-166868647-C-G c.3851G>C p.W1284S Missense 22/29 - 3
2-166868647-C-T c.3851G>A p.W1284* Nonsense 22/29 - 1
2-166868674-C-A c.3824G>T p.G1275V Missense 22/29 - 2
2-166868674-C-G c.3824G>C p.G1275A Missense 22/29 - 2
2-166868676-A-AT c.3821dup p.Y1274* Nonsense 22/29 - 1
2-166868678-A-T c.3820T>A p.Y1274N Missense 22/29 - 1
2-166868680-G-A c.3818C>T p.A1273V Missense 22/29 - 1
2-166868685-C-A c.3813G>T p.W1271C Missense 22/29 - 2
2-166868685-C-G c.3813G>C p.W1271C Missense 22/29 - 3
2-166868689-T-G c.3809A>C p.K1270T Missense 22/29 - 16
2-166868691-TTAG-T c.3805_3807del p.L1269del InFrameDeletion 22/29 - 1
2-166868701-T-G c.3797A>C p.E1266A Missense 22/29 - 5
2-166868702-C-A c.3796G>T p.E1266* Nonsense 22/29 - 1
2-166868704-A-G c.3794T>C p.L1265P Missense 22/29 - 1
2-166868709-G-C c.3789C>G p.F1263L Missense 22/29 - 2
2-166868709-G-T c.3789C>A p.F1263L Missense 22/29 - 2
2-166868711-A-G c.3787T>C p.F1263L Missense 22/29 - 2
2-166868720-T-G c.3778A>C p.T1260P Missense 22/29 - 1
2-166868722-A-G c.3776T>C p.F1259S Missense 22/29 - 1
2-166868734-G-T c.3764C>A p.A1255D Missense 22/29 - 2
2-166868735-C-G c.3763G>C p.A1255P Missense 22/29 - 1
2-166868737-T-C c.3761A>G p.Y1254C Missense 22/29 - 1
2-166868738-A-AT c.3759dup p.Y1254Ifs*3 Frameshift 22/29 - 1
2-166868740-T-C c.3758A>G p.E1253G Missense 22/29 - 3
2-166868746-A-C c.3752T>G p.M1251R Missense 22/29 - 1
2-166868746-ATCGTCTTAATCG-A c.3740_3751del p.T1247_T1250del InFrameDeletion 22/29 - 1
2-166868749-G-A c.3749C>T p.T1250M Missense 22/29 - 6
2-166868751-C-A c.3747G>T p.K1249N Missense 22/29 - 1
2-166868751-C-G c.3747G>C p.K1249N Missense 22/29 - 1
2-166868758-G-A c.3740C>T p.T1247M Missense 22/29 - 1
2-166868764-C-T c.3734G>A p.R1245Q Missense 22/29 - 2
2-166868765-G-A c.3733C>T p.R1245* Nonsense 22/29 - 4
2-166868768-G-A c.3730C>T p.Q1244* Nonsense 22/29 - 1
2-166868771-C-T c.3727G>A p.D1243N Missense 22/29 - 2
2-166868768-GATCAATATATAT-G c.3718_3729del p.I1240_D1243del InFrameDeletion 22/29 - 1
2-166868771-C-CAT c.3726_3727insAT p.D1243Mfs*28 Frameshift 22/29 - 1
2-166868777-A-G c.3721T>C p.Y1241H Missense 22/29 - 1
2-166868778-T-TTATC c.3719_3720insGATA p.I1240Mfs*5 Frameshift 22/29 - 1
2-166868782-T-C c.3716A>G p.D1239G Missense 22/29 - 1
2-166868783-C-A c.3715G>T p.D1239Y Missense 22/29 - 2
2-166868784-T-A c.3714A>T p.E1238D Missense 22/29 - 2
2-166868784-T-G c.3714A>C p.E1238D Missense 22/29 - 2
2-166868792-C-G c.3706G>C p.A1236P Missense 22/29 - 1
2-166870199-G-C c.3705+55C>G - IntronicSNV - 21/28 1
2-166870221-A-C c.3705+33T>G - IntronicSNV - 21/28 1
2-166870221-A-G c.3705+33T>C - IntronicSNV - 21/28 1
2-166870255-CA-C c.3704del p.L1235Rfs*35 Frameshift 21/29 - 1
2-166870261-C-T c.3698G>A p.G1233D Missense 21/29 - 1
2-166870262-C-G c.3697G>C p.G1233R Missense 21/29 - 1
2-166870264-C-T c.3695G>A p.S1232N Missense 21/29 - 1
2-166870266-A-C c.3693T>G p.S1231R Missense 21/29 - 8
2-166870266-A-G c.3693T>C p.S1231= Synonymous 21/29 - 1
2-166870266-A-T c.3693T>A p.S1231R Missense 21/29 - 8
2-166870268-T-G c.3691A>C p.S1231R Missense 21/29 - 8
2-166870267-C-G c.3692G>C p.S1231T Missense 21/29 - 1
2-166870270-A-G c.3689T>C p.L1230P Missense 21/29 - 2
2-166870271-G-A c.3688C>T p.L1230F Missense 21/29 - 2
2-166870286-CA-C c.3672del p.I1224Mfs*4 Frameshift 21/29 - 1
2-166870297-T-G c.3662A>C p.E1221A Missense 21/29 - 1
2-166870298-C-G c.3661G>C p.E1221Q Missense 21/29 - 1
2-166870298-C-T c.3661G>A p.E1221K Missense 21/29 - 2
2-166870310-G-A c.3649C>T p.H1217Y Missense 21/29 - 1
2-166870316-C-A c.3643G>T p.V1215F Missense 21/29 - 1
2-166870318-A-C c.3641T>G p.I1214R Missense 21/29 - 2
2-166870321-C-T c.3638G>A p.R1213Q Missense 21/29 - 1
2-166870322-G-A c.3637C>T p.R1213* Nonsense 21/29 - 3
2-166870326-A-T c.3633T>A p.C1211* Nonsense 21/29 - 1
2-166870328-ACGT-A c.3628_3630del p.T1210del InFrameDeletion 21/29 - 1
2-166870330-G-T c.3629C>A p.T1210K Missense 21/29 - 1
2-166870336-C-T c.3623G>A p.R1208K Missense 21/29 - 1
2-166870339-A-G c.3620T>C p.L1207P Missense 21/29 - 3
2-166870339-CA-C c.3620del p.L1207Rfs*8 Frameshift 21/29 - 1
2-166870347-C-T c.3612G>A p.W1204* Nonsense 21/29 - 1
2-166870348-C-G c.3611G>C p.W1204S Missense 21/29 - 1
2-166870348-C-T c.3611G>A p.W1204* Nonsense 21/29 - 1
2-166870349-A-G c.3610T>C p.W1204R Missense 21/29 - 18
2-166870349-A-T c.3610T>A p.W1204R Missense 21/29 - 16
2-166870349-AT-A c.3609del p.Q1203Hfs*5 Frameshift 21/29 - 1
2-166870359-TCT-CCA c.3598_3600delinsTGG p.R1200W Missense 21/29 - 1
2-166870363-C-G c.3596G>C p.G1199A Missense 21/29 - 1
2-166870367-C-T c.3592G>A p.E1198K Missense 21/29 - 1
2-166870374-ATTGAT-A c.3580_3584del p.I1194Cfs*21 Frameshift 21/29 - 2
2-166870378-AT-A c.3580del p.I1194Sfs*14 Frameshift 21/29 - 2
2-166870406-A-G c.3553T>C p.C1185R Missense 21/29 - 1
2-166872137-G-C c.3530C>G p.P1177R Missense 20/29 - 1
2-166872141-TC-T c.3526del p.E1176Nfs*32 Frameshift 20/29 - 2
2-166872146-G-C c.3521C>G p.T1174S Missense 20/29 - 16
2-166872147-T-A c.3520A>T p.T1174S Missense 20/29 - 11
2-166872150-C-T c.3517G>A p.E1173K Missense 20/29 - 1
2-166872152-T-G c.3515A>C p.E1172A Missense 20/29 - 1
2-166872170-T-C c.3497A>G p.Q1166R Missense 20/29 - 1
2-166872184-T-C c.3483A>G p.A1161= Synonymous 20/29 - 1
2-166872186-C-T c.3481G>A p.A1161T Missense 20/29 - 1
2-166872189-C-G c.3478G>C p.G1160R Missense 20/29 - 1
2-166872210-C-A c.3457G>T p.E1153* Nonsense 20/29 - 1
2-166872215-G-C c.3452C>G p.S1151* Nonsense 20/29 - 1
2-166872223-GCTTT-G c.3440_3443del p.E1147Afs*16 Frameshift 20/29 - 1
2-166872228-C-A c.3439G>T p.E1147* Nonsense 20/29 - 1
2-166873723-T-C c.3430-1486A>G - IntronicSNV - 19/28 1
2-166873723-T-G c.3430-1486A>C - IntronicSNV - 19/28 1
2-166879782-G-T c.3430-7545C>A - IntronicSNV - 19/28 3
2-166882222-C-A c.3430-9985G>T - IntronicSNV - 19/28 2
2-166890273-T-A c.3429+2285A>T - IntronicSNV - 19/28 1
2-166890273-T-C c.3429+2285A>G - IntronicSNV - 19/28 1
2-166890273-T-G c.3429+2285A>C - IntronicSNV - 19/28 1
2-166892346-A-G c.3429+212T>C - IntronicSNV - 19/28 1
2-166892449-A-T c.3429+109T>A - IntronicSNV - 19/28 1
2-166892575-G-A c.3412C>T p.L1138= Synonymous 19/29 - 1
2-166892583-T-C c.3404A>G p.E1135G Missense 19/29 - 1
2-166892584-C-T c.3403G>A p.E1135K Missense 19/29 - 1
2-166892603-TG-T c.3384del p.N1128Kfs*18 Frameshift 19/29 - 1
2-166892611-T-C c.3376A>G p.N1126D Missense 19/29 - 1
2-166892616-A-C c.3371T>G p.F1124C Missense 19/29 - 1
2-166892643-ACAGT-A c.3340_3343del p.T1114Yfs*5 Frameshift 19/29 - 2
2-166892646-G-A c.3341C>T p.T1114I Missense 19/29 - 1
2-166892659-T-TG c.3327dup p.S1110Qfs*14 Frameshift 19/29 - 1
2-166892676-G-C c.3311C>G p.S1104* Nonsense 19/29 - 1
2-166892676-G-T c.3311C>A p.S1104* Nonsense 19/29 - 1
2-166892679-A-G c.3308T>C p.M1103T Missense 19/29 - 1
2-166892692-C-A c.3295G>T p.E1099* Nonsense 19/29 - 4
2-166892704-A-G c.3283T>C p.Y1095H Missense 19/29 - 1
2-166892712-A-G c.3275T>C p.V1092A Missense 19/29 - 1
2-166892718-C-G c.3269G>C p.S1090T Missense 19/29 - 2
2-166892737-T-A c.3250A>T p.S1084C Missense 19/29 - 1
2-166892746-C-G c.3241G>C p.G1081R Missense 19/29 - 1
2-166892746-C-T c.3241G>A p.G1081R Missense 19/29 - 1
2-166892769-A-G c.3218T>C p.L1073P Missense 19/29 - 1
2-166892773-CT-C c.3213del p.D1072Ifs*8 Frameshift 19/29 - 1
2-166892785-C-T c.3202G>A p.E1068K Missense 19/29 - 1
2-166892788-C-T c.3199G>A p.A1067T Missense 19/29 - 37
2-166892803-T-C c.3184A>G p.M1062V Missense 19/29 - 7
2-166892848-C-A c.3139G>T p.E1047* Nonsense 19/29 - 1
2-166892851-C-T c.3136G>A p.D1046N Missense 19/29 - 1
2-166892851-TC-T c.3136del p.D1046Mfs*9 Frameshift 19/29 - 2
2-166892856-A-T c.3131T>A p.I1044N Missense 19/29 - 1
2-166892857-T-C c.3130A>G p.I1044V Missense 19/29 - 1
2-166892873-G-C c.3114C>G p.F1038L Missense 19/29 - 1
2-166892873-G-T c.3114C>A p.F1038L Missense 19/29 - 1
2-166892875-A-G c.3112T>C p.F1038L Missense 19/29 - 1
2-166892875-A-AG c.3111dup p.F1038Lfs*3 Frameshift 19/29 - 1
2-166892881-G-A c.3106C>T p.Q1036* Nonsense 19/29 - 2
2-166892886-A-G c.3101T>C p.I1034T Missense 19/29 - 1
2-166892893-C-A c.3094G>T p.E1032* Nonsense 19/29 - 1
2-166892916-G-C c.3071C>G p.A1024G Missense 19/29 - 1
2-166892923-C-A c.3064G>T p.G1022* Nonsense 19/29 - 1
2-166892949-TGGA-T c.3035_3037del p.L1012del InFrameDeletion 19/29 - 1
2-166892953-AG-A c.3034del p.L1012Sfs*12 Frameshift 19/29 - 1
2-166892955-T-A c.3032A>T p.N1011I Missense 19/29 - 4
2-166892955-TT-AG c.3031_3032delinsCT p.N1011L Missense 19/29 - 1
2-166892971-C-T c.3016G>A p.D1006N Missense 19/29 - 1
2-166892980-GT-G c.3007del p.T1003Lfs*7 Frameshift 19/29 - 1
2-166892991-T-C c.2996A>G p.N999S Missense 19/29 - 2
2-166892994-T-C c.2993A>G p.D998G Missense 19/29 - 1
2-166893002-A-C c.2985T>G p.F995L Missense 19/29 - 1
2-166893021-G-A c.2966C>T p.A989V Missense 19/29 - 1
2-166893022-C-G c.2965G>C p.A989P Missense 19/29 - 2
2-166893022-C-T c.2965G>A p.A989T Missense 19/29 - 2
2-166893024-A-G c.2963T>C p.L988P Missense 19/29 - 1
2-166893026-A-C c.2961T>G p.F987L Missense 19/29 - 1
2-166893026-A-T c.2961T>A p.F987L Missense 19/29 - 1
2-166893028-A-G c.2959T>C p.F987L Missense 19/29 - 1
2-166893030-A-G c.2957T>C p.L986P Missense 19/29 - 1
2-166893031-G-A c.2956C>T p.L986F Missense 19/29 - 8
2-166893031-G-T c.2956C>A p.L986I Missense 19/29 - 1
2-166893033-T-A c.2954A>T p.N985I Missense 19/29 - 2
2-166893036-A-C c.2951T>G p.L984R Missense 19/29 - 1
2-166893039-A-G c.2948T>C p.V983A Missense 19/29 - 5
2-166893039-GA-G c.2948del p.V983Afs*2 Frameshift 19/29 - 2
2-166893040-C-A c.2947G>T p.V983F Missense 19/29 - 1
2-166893081-G-A c.2947-41C>T - IntronicSNV - 18/28 1
2-166893678-T-G c.2946+608A>C - IntronicSNV - 18/28 1
2-166894288-C-A c.2944G>T p.V982L Missense 18/29 - 2
2-166894288-C-G c.2944G>C p.V982L Missense 18/29 - 3
2-166894291-G-T c.2941C>A p.L981I Missense 18/29 - 2
2-166894296-C-A c.2936G>T p.G979V Missense 18/29 - 1
2-166894297-C-G c.2935G>C p.G979R Missense 18/29 - 4
2-166894297-C-T c.2935G>A p.G979R Missense 18/29 - 4
2-166894298-A-C c.2934T>G p.I978M Missense 18/29 - 1
2-166894304-C-A c.2928G>T p.M976I Missense 18/29 - 1
2-166894304-C-CT c.2927_2928insA p.M976Ifs*21 Frameshift 18/29 - 1
2-166894304-C-G c.2928G>C p.M976I Missense 18/29 - 1
2-166894304-C-T c.2928G>A p.M976I Missense 18/29 - 1
2-166894306-T-A c.2926A>T p.M976L Missense 18/29 - 1
2-166894306-T-G c.2926A>C p.M976L Missense 18/29 - 1
2-166894309-C-G c.2923G>C p.V975L Missense 18/29 - 1
2-166894305-ATGACCATCATGAAGACAGTAAGGCACATGGCT-A c.2895_2926del p.Q965Hfs*21 Frameshift 18/29 - 1
2-166894314-A-T c.2918T>A p.M973K Missense 18/29 - 1
2-166894315-T-C c.2917A>G p.M973V Missense 18/29 - 1
2-166894321-C-G c.2911G>C p.V971L Missense 18/29 - 2
2-166894321-C-T c.2911G>A p.V971I Missense 18/29 - 1
2-166894326-A-G c.2906T>C p.L969P Missense 18/29 - 1
2-166894328-GGCACATGGCTTGACCAGCAACCTCCAT-G c.2878_2904del p.M960_C968del InFrameDeletion 18/29 - 1
2-166894330-A-C c.2902T>G p.C968G Missense 18/29 - 1
2-166894332-A-T c.2900T>A p.M967K Missense 18/29 - 1
2-166894343-A-G c.2889T>C p.A963= Synonymous 18/29 - 1
2-166894353-A-G c.2879T>C p.M960T Missense 18/29 - 1
2-166894354-T-C c.2878A>G p.M960V Missense 18/29 - 1
2-166894354-T-G c.2878A>C p.M960L Missense 18/29 - 1
2-166894356-C-G c.2876G>C p.C959S Missense 18/29 - 1
2-166894356-C-T c.2876G>A p.C959Y Missense 18/29 - 2
2-166894357-A-G c.2875T>C p.C959R Missense 18/29 - 4
2-166894362-C-A c.2870G>T p.W957L Missense 18/29 - 1
2-166894365-A-G c.2867T>C p.M956T Missense 18/29 - 1
2-166894359-TCCCACATGGTCTCTATCCACTC-T c.2851_2872del p.E951Tfs*16 Frameshift 18/29 - 1
2-166894372-C-G c.2860G>C p.E954Q Missense 18/29 - 2
2-166894372-C-T c.2860G>A p.E954K Missense 18/29 - 3
2-166894378-A-C c.2854T>G p.W952G Missense 18/29 - 1
2-166894378-A-G c.2854T>C p.W952R Missense 18/29 - 1
2-166894380-TC-GT c.2851_2852delinsAC p.E951T Missense 18/29 - 1
2-166894383-C-T c.2849G>A p.G950E Missense 18/29 - 3
2-166894380-TC-T c.2851del p.E951Sfs*3 Frameshift 18/29 - 1
2-166894384-C-G c.2848G>C p.G950R Missense 18/29 - 2
2-166894384-C-T c.2848G>A p.G950R Missense 18/29 - 2
2-166894386-C-T c.2846G>A p.C949Y Missense 18/29 - 2
2-166894386-C-G c.2846G>C p.C949S Missense 18/29 - 1
2-166894387-A-T c.2845T>A p.C949S Missense 18/29 - 1
2-166894384-CACACAGCACGCGGA-C c.2834_2847del p.F945Wfs*47 Frameshift 18/29 - 1
2-166894393-C-T c.2839G>A p.V947M Missense 18/29 - 1
2-166894395-C-T c.2837G>A p.R946H Missense 18/29 - 8
2-166894396-G-A c.2836C>T p.R946C Missense 18/29 - 9
2-166894396-G-T c.2836C>A p.R946S Missense 18/29 - 4
2-166894397-G-C c.2835C>G p.F945L Missense 18/29 - 2
2-166894397-G-T c.2835C>A p.F945L Missense 18/29 - 2
2-166894399-A-G c.2833T>C p.F945L Missense 18/29 - 2
2-166894401-A-G c.2831T>C p.V944A Missense 18/29 - 1
2-166894401-A-T c.2831T>A p.V944E Missense 18/29 - 1
2-166894404-A-T c.2828T>A p.I943N Missense 18/29 - 1
2-166894406-C-CA c.2825dup p.I943Dfs*54 Frameshift 18/29 - 1
2-166894407-A-G c.2825T>C p.L942P Missense 18/29 - 2
2-166894408-G-C c.2824C>G p.L942V Missense 18/29 - 1
2-166894415-G-C c.2817C>G p.H939Q Missense 18/29 - 4
2-166894415-G-T c.2817C>A p.H939Q Missense 18/29 - 4
2-166894416-T-G c.2816A>C p.H939P Missense 18/29 - 1
2-166894417-G-A c.2815C>T p.H939Y Missense 18/29 - 2
2-166894429-T-G c.2803A>C p.N935H Missense 18/29 - 1
2-166894430-C-A c.2802G>T p.M934I Missense 18/29 - 2
2-166894430-C-G c.2802G>C p.M934I Missense 18/29 - 2
2-166894430-C-T c.2802G>A p.M934I Missense 18/29 - 3
2-166894434-T-G c.2798A>C p.H933P Missense 18/29 - 1
2-166894435-G-A c.2797C>T p.H933Y Missense 18/29 - 1
2-166894436-C-A c.2796G>T p.W932C Missense 18/29 - 1
2-166894436-C-G c.2796G>C p.W932C Missense 18/29 - 1
2-166894440-C-T c.2792G>A p.R931H Missense 18/29 - 11
2-166894441-G-A c.2791C>T p.R931C Missense 18/29 - 5
2-166894447-G-A c.2785C>T p.L929F Missense 18/29 - 1
2-166894452-C-A c.2780G>T p.C927F Missense 18/29 - 1
2-166894452-C-G c.2780G>C p.C927S Missense 18/29 - 1
2-166894453-A-T c.2779T>A p.C927S Missense 18/29 - 1
2-166894462-C-T c.2770G>A p.A924T Missense 18/29 - 1
2-166894464-A-C c.2768T>G p.I923S Missense 18/29 - 1
2-166894494-C-A c.2738G>T p.G913V Missense 18/29 - 1
2-166894497-A-G c.2735T>C p.F912S Missense 18/29 - 1
2-166894499-GA-TT c.2732_2733delinsAA p.L911Q Missense 18/29 - 1
2-166894503-T-C c.2729A>G p.Q910R Missense 18/29 - 1
2-166894503-T-G c.2729A>C p.Q910P Missense 18/29 - 1
2-166894504-G-A c.2728C>T p.Q910* Nonsense 18/29 - 1
2-166894505-CATGCCGACCA-GT c.2717_2727delinsAC p.V906_M909delinsD MultiAAMissense 18/29 - 1
2-166894506-A-T c.2726T>A p.M909K Missense 18/29 - 1
2-166894513-C-A c.2719G>T p.V907F Missense 18/29 - 1
2-166894518-G-T c.2714C>A p.A905D Missense 18/29 - 1
2-166894519-C-G c.2713G>C p.A905P Missense 18/29 - 1
2-166894519-C-T c.2713G>A p.A905T Missense 18/29 - 1
2-166894527-A-C c.2705T>G p.F902C Missense 18/29 - 5
2-166894531-C-T c.2701G>A p.V901I Missense 18/29 - 1
2-166894536-A-G c.2696T>C p.I899T Missense 18/29 - 1
2-166894537-TGGCCAAGAC-T c.2686_2694del p.V896_A898del InFrameDeletion 18/29 - 1
2-166894541-C-A c.2691G>T p.L897F Missense 18/29 - 1
2-166894541-C-G c.2691G>C p.L897F Missense 18/29 - 1
2-166894542-A-G c.2690T>C p.L897S Missense 18/29 - 1
2-166894546-C-A c.2686G>T p.V896F Missense 18/29 - 1
2-166894546-C-G c.2686G>C p.V896L Missense 18/29 - 2
2-166894546-C-T c.2686G>A p.V896I Missense 18/29 - 1
2-166894549-G-A c.2683C>T p.L895F Missense 18/29 - 1
2-166894553-T-A c.2679A>T p.L893F Missense 18/29 - 1
2-166894553-T-G c.2679A>C p.L893F Missense 18/29 - 2
2-166894554-A-T c.2678T>A p.L893* Nonsense 18/29 - 1
2-166894556-AT-A c.2675del p.N892Ifs*2 Frameshift 18/29 - 1
2-166894560-C-T c.2672G>A p.G891E Missense 18/29 - 1
2-166894561-C-T c.2671G>A p.G891R Missense 18/29 - 1
2-166894563-A-G c.2669T>C p.L890P Missense 18/29 - 3
2-166894567-C-T c.2665G>A p.A889T Missense 18/29 - 1
2-166894596-A-G c.2636T>C p.L879P Missense 18/29 - 1
2-166894596-TAG-T c.2635_2636del p.L879Nfs*35 Frameshift 18/29 - 1
2-166894604-T-A c.2628A>T p.L876F Missense 18/29 - 1
2-166894605-AA-TG c.2626_2627delinsCA p.L876Q Missense 18/29 - 1
2-166894608-G-A c.2624C>T p.T875M Missense 18/29 - 24
2-166894608-G-T c.2624C>A p.T875K Missense 18/29 - 2
2-166894625-C-A c.2607G>T p.L869F Missense 18/29 - 2
2-166894625-CAA-ATG c.2605_2607delinsCAT p.L869H Missense 18/29 - 1
2-166894625-C-G c.2607G>C p.L869F Missense 18/29 - 2
2-166894626-A-G c.2606T>C p.L869S Missense 18/29 - 1
2-166894628-ACTT-A c.2602_2604del p.K868del InFrameDeletion 18/29 - 1
2-166894628-C-A c.2604G>T p.K868N Missense 18/29 - 1
2-166894628-C-G c.2604G>C p.K868N Missense 18/29 - 1
2-166894637-TC-AT c.2594_2595delinsAT p.R865H Missense 18/29 - 1
2-166894638-C-T c.2594G>A p.R865Q Missense 18/29 - 1
2-166894639-G-A c.2593C>T p.R865* Nonsense 18/29 - 3
2-166894639-G-C c.2593C>G p.R865G Missense 18/29 - 6
2-166895066-A-T c.2590-424T>A - IntronicSNV - 17/28 6
2-166895710-G-A c.2589+223C>T - IntronicSNV - 17/28 1
2-166895725-T-C c.2589+208A>G - IntronicSNV - 17/28 2
2-166895725-T-G c.2589+208A>C - IntronicSNV - 17/28 2
2-166895761-A-G c.2589+172T>C - IntronicSNV - 17/28 1
2-166895934-A-G c.2588T>C p.L863S Missense 17/29 - 1
2-166895937-C-A c.2585G>T p.R862L Missense 17/29 - 1
2-166895937-C-T c.2585G>A p.R862Q Missense 17/29 - 3
2-166895938-G-A c.2584C>T p.R862* Nonsense 17/29 - 1
2-166895938-G-C c.2584C>G p.R862G Missense 17/29 - 3
2-166895946-C-T c.2576G>A p.R859H Missense 17/29 - 9
2-166895947-G-A c.2575C>T p.R859C Missense 17/29 - 9
2-166895949-A-T c.2573T>A p.L858H Missense 17/29 - 6
2-166895950-G-A c.2572C>T p.L858F Missense 17/29 - 1
2-166895953-C-T c.2569G>A p.V857I Missense 17/29 - 1
2-166895956-ATAATCC-A c.2560_2565del p.G854_L855del InFrameDeletion 17/29 - 1
2-166895974-C-A c.2548G>T p.A850S Missense 17/29 - 1
2-166895993-G-C c.2529C>G p.S843R Missense 17/29 - 1
2-166895993-GCT-TCA c.2527_2529delinsTGA p.S843* Nonsense 17/29 - 1
2-166895993-G-T c.2529C>A p.S843R Missense 17/29 - 1
2-166895995-T-G c.2527A>C p.S843R Missense 17/29 - 1
2-166896000-G-C c.2522C>G p.T841R Missense 17/29 - 1
2-166896016-C-A c.2506G>T p.D836Y Missense 17/29 - 1
2-166896031-CT-C c.2490del p.G831Afs*10 Frameshift 17/29 - 1
2-166896034-C-A c.2488G>T p.E830* Nonsense 17/29 - 1
2-166896045-TAGTA-T c.2473_2476del p.Y825Ifs*15 Frameshift 17/29 - 1
2-166896071-C-G c.2451G>C p.L817= Synonymous 17/29 - 1
2-166896077-ACAT-A c.2443_2445del p.M815del InFrameDeletion 17/29 - 1
2-166896087-G-A c.2435C>T p.T812I Missense 17/29 - 2
2-166896087-G-C c.2435C>G p.T812R Missense 17/29 - 1
2-166896099-G-C c.2423C>G p.T808S Missense 17/29 - 3
2-166896100-T-A c.2422A>T p.T808S Missense 17/29 - 3
2-166896143-T-A c.2416-37A>T - IntronicSNV - 16/28 4
2-166896143-T-G c.2416-37A>C - IntronicSNV - 16/28 4
2-166896178-C-T c.2416-72G>A - IntronicSNV - 16/28 1
2-166897773-G-A c.2383C>T p.H795Y Missense 16/29 - 1
2-166897778-G-A c.2378C>T p.T793M Missense 16/29 - 3
2-166897787-T-C c.2369A>G p.Y790C Missense 16/29 - 1
2-166897794-C-T c.2362G>A p.E788K Missense 16/29 - 2
2-166897796-A-C c.2360T>G p.M787R Missense 16/29 - 2
2-166897797-T-C c.2359A>G p.M787V Missense 16/29 - 1
2-166897799-G-A c.2357C>T p.A786V Missense 16/29 - 1
2-166897802-A-G c.2354T>C p.M785T Missense 16/29 - 1
2-166897808-A-G c.2348T>C p.L783P Missense 16/29 - 1
2-166897811-G-A c.2345C>T p.T782I Missense 16/29 - 1
2-166897829-ATGG-A c.2324_2326del p.T775del InFrameDeletion 16/29 - 1
2-166897841-A-G c.2315T>C p.L772P Missense 16/29 - 1
2-166897853-G-A c.2303C>T p.P768L Missense 16/29 - 1
2-166897855-G-A c.2301C>T p.D767= Synonymous 16/29 - 1
2-166897863-C-T c.2293G>A p.V765M Missense 16/29 - 1
2-166897864-A-C c.2292T>G p.V764= Synonymous 16/29 - 1
2-166897864-A-G c.2292T>C p.V764= Synonymous 16/29 - 12
2-166897864-A-T c.2292T>A p.V764= Synonymous 16/29 - 12
2-166897872-T-C c.2284A>G p.N762D Missense 16/29 - 1
2-166897875-C-T c.2281G>A p.V761I Missense 16/29 - 1
2-166897897-A-C c.2259T>G p.Y753* Nonsense 16/29 - 1
2-166897908-A-G c.2248T>C p.C750R Missense 16/29 - 1
2-166897912-C-T c.2244G>A p.W748* Nonsense 16/29 - 3
2-166897942-C-T c.2214G>A p.W738* Nonsense 16/29 - 3
2-166897943-C-T c.2213G>A p.W738* Nonsense 16/29 - 1
2-166897952-G-A c.2204C>T p.P735L Missense 16/29 - 1
2-166897958-T-C c.2198A>G p.K733R Missense 16/29 - 1
2-166897974-C-G c.2182G>C p.E728Q Missense 16/29 - 1
2-166898344-C-T c.2177-365G>A - IntronicSNV - 15/28 2
2-166898841-C-T c.2137G>A p.A713T Missense 15/29 - 2
2-166898844-G-A c.2134C>T p.R712* Nonsense 15/29 - 9
2-166898883-C-T c.2095G>A p.V699I Missense 15/29 - 1
2-166898886-GGAAA-G c.2088_2091del p.F697Tfs*7 Frameshift 15/29 - 1
2-166898921-T-A c.2057A>T p.E686V Missense 15/29 - 1
2-166898921-T-G c.2057A>C p.E686A Missense 15/29 - 1
2-166898933-C-A c.2045G>T p.G682V Missense 15/29 - 5
2-166899102-T-A c.2044-168A>T - IntronicSNV - 14/28 2
2-166899102-T-G c.2044-168A>C - IntronicSNV - 14/28 2
2-166900201-T-C c.2021A>G p.D674G Missense 14/29 - 1
2-166900198-TTATC-T c.2020_2023del p.D674Sfs*15 Frameshift 14/29 - 1
2-166900228-C-T c.1994G>A p.G665E Missense 14/29 - 1
2-166900237-G-T c.1985C>A p.S662* Nonsense 14/29 - 1
2-166900244-G-T c.1978C>A p.P660T Missense 14/29 - 1
2-166900286-CCA-C c.1934_1935del p.V645Gfs*30 Frameshift 14/29 - 1
2-166900299-C-G c.1923G>C p.M641I Missense 14/29 - 1
2-166900301-T-A c.1921A>T p.M641L Missense 14/29 - 1
2-166900312-G-A c.1910C>T p.A637V Missense 14/29 - 1
2-166900331-T-C c.1891A>G p.M631V Missense 14/29 - 1
2-166900334-G-A c.1888C>T p.R630W Missense 14/29 - 2
2-166900340-A-T c.1882T>A p.S628T Missense 14/29 - 1
2-166900346-T-C c.1876A>G p.S626G Missense 14/29 - 2
2-166900369-C-T c.1853G>A p.R618H Missense 14/29 - 1
2-166900370-G-A c.1852C>T p.R618C Missense 14/29 - 4
2-166900373-T-A c.1849A>T p.R617* Nonsense 14/29 - 1
2-166900385-G-A c.1837C>T p.R613* Nonsense 14/29 - 4
2-166900386-TCG-ACA c.1834_1836delinsTGT p.R612C Missense 14/29 - 1
2-166900388-G-A c.1834C>T p.R612* Nonsense 14/29 - 3
2-166900403-A-T c.1819T>A p.S607T Missense 14/29 - 1
2-166900408-C-G c.1814G>C p.R605T Missense 14/29 - 1
2-166900411-C-T c.1811G>A p.R604H Missense 14/29 - 10
2-166900412-G-A c.1810C>T p.R604C Missense 14/29 - 1
2-166900416-C-T c.1806G>A p.E602= Synonymous 14/29 - 1
2-166900418-C-T c.1804G>A p.E602K Missense 14/29 - 1
2-166900451-C-T c.1771G>A p.A591T Missense 14/29 - 1
2-166900467-T-TC c.1754dup p.S586Ifs*2 Frameshift 14/29 - 1
2-166900476-C-T c.1746G>A p.K582= Synonymous 14/29 - 1
2-166900484-G-A c.1738C>T p.R580* Nonsense 14/29 - 2
2-166900489-C-T c.1733G>A p.R578K Missense 14/29 - 1
2-166900490-T-A c.1732A>T p.R578* Nonsense 14/29 - 1
2-166900496-T-C c.1726A>G p.S576G Missense 14/29 - 1
2-166900502-G-A c.1720C>T p.L574F Missense 14/29 - 1
2-166900519-C-T c.1703G>A p.R568Q Missense 14/29 - 2
2-166900520-G-A c.1702C>T p.R568* Nonsense 14/29 - 1
2-166900525-G-A c.1697C>T p.P566L Missense 14/29 - 1
2-166900533-T-C c.1689A>G p.L563= Synonymous 14/29 - 1
2-166900534-A-T c.1688T>A p.L563Q Missense 14/29 - 1
2-166900541-C-T c.1681G>A p.G561S Missense 14/29 - 1
2-166901553-C-A c.1662G>T p.Q554H Missense 13/29 - 1
2-166901553-C-G c.1662G>C p.Q554H Missense 13/29 - 1
2-166901553-C-T c.1662G>A p.Q554= Synonymous 13/29 - 1
2-166901568-G-T c.1647C>A p.Y549* Nonsense 13/29 - 1
2-166901579-C-A c.1636G>T p.E546* Nonsense 13/29 - 1
2-166901580-A-ATG c.1634_1635insCA p.E546Mfs*13 Frameshift 13/29 - 1
2-166901585-GT-G c.1630del p.T544Hfs*14 Frameshift 13/29 - 2
2-166901587-A-G c.1628T>C p.L543S Missense 13/29 - 1
2-166901590-C-T c.1625G>A p.R542Q Missense 13/29 - 7
2-166901591-G-A c.1624C>T p.R542* Nonsense 13/29 - 5
2-166901599-T-G c.1616A>C p.E539A Missense 13/29 - 1
2-166901611-C-T c.1604G>A p.R535H Missense 13/29 - 1
2-166901623-C-T c.1592G>A p.R531K Missense 13/29 - 1
2-166901627-T-A c.1588A>T p.R530W Missense 13/29 - 1
2-166901648-A-AT c.1566dup p.S523Ifs*2 Frameshift 13/29 - 1
2-166901660-C-T c.1555G>A p.E519K Missense 13/29 - 2
2-166901669-C-T c.1546G>A p.D516N Missense 13/29 - 2
2-166901690-G-A c.1525C>T p.Q509* Nonsense 13/29 - 1
2-166901702-T-A c.1513A>T p.K505* Nonsense 13/29 - 1
2-166901715-CCG-ACA c.1498_1500delinsTGT p.R500C Missense 13/29 - 1
2-166901716-C-T c.1499G>A p.R500Q Missense 13/29 - 3
2-166901724-TCTTTC-T c.1486_1490del p.E496Kfs*20 Frameshift 13/29 - 1
2-166901725-CT-C c.1489del p.R497Efs*47 Frameshift 13/29 - 1
2-166901746-C-T c.1469G>A p.S490N Missense 13/29 - 1
2-166901748-CAACTT-C c.1462_1466del p.K488Efs*6 Frameshift 13/29 - 1
2-166901750-AACTTAGAG-A c.1458_1465del p.S487Efs*6 Frameshift 13/29 - 1
2-166901750-A-C c.1465T>G p.L489V Missense 13/29 - 1
2-166901758-G-C c.1457C>G p.A486G Missense 13/29 - 2
2-166901769-GCTGT-G c.1442_1445del p.D481Afs*8 Frameshift 13/29 - 1
2-166901794-C-T c.1421G>A p.S474N Missense 13/29 - 1
2-166901825-C-G c.1390G>C p.A464P Missense 13/29 - 1
2-166901837-G-A c.1378C>T p.Q460* Nonsense 13/29 - 1
2-166902406-A-T c.1378-569T>A - IntronicSNV - 12/28 1
2-166903280-C-G c.1377G>C p.Q459H Missense 12/29 - 1
2-166903281-T-C c.1376A>G p.Q459R Missense 12/29 - 1
2-166903309-G-A c.1348C>T p.Q450* Nonsense 12/29 - 3
2-166903330-C-A c.1327G>T p.E443* Nonsense 12/29 - 1
2-166903333-C-T c.1324G>A p.A442T Missense 12/29 - 1
2-166903342-TG-T c.1315del p.Q439Rfs*9 Frameshift 12/29 - 1
2-166903354-C-A c.1303G>T p.E435* Nonsense 12/29 - 2
2-166903363-C-A c.1294G>T p.A432S Missense 12/29 - 1
2-166903372-G-A c.1285C>T p.Q429* Nonsense 12/29 - 1
2-166903374-T-C c.1283A>G p.E428G Missense 12/29 - 1
2-166903378-C-T c.1279G>A p.E427K Missense 12/29 - 1
2-166903380-T-C c.1277A>G p.Y426C Missense 12/29 - 1
2-166903381-A-G c.1276T>C p.Y426H Missense 12/29 - 1
2-166903381-A-T c.1276T>A p.Y426N Missense 12/29 - 3
2-166903392-A-G c.1265T>C p.V422A Missense 12/29 - 1
2-166903393-C-A c.1264G>T p.V422L Missense 12/29 - 5
2-166903393-C-G c.1264G>C p.V422L Missense 12/29 - 1
2-166903393-C-T c.1264G>A p.V422M Missense 12/29 - 4
2-166903397-AGC-CCA c.1258_1260delinsTGG p.A420W Missense 12/29 - 1
2-166903398-G-A c.1259C>T p.A420V Missense 12/29 - 1
2-166903398-G-T c.1259C>A p.A420D Missense 12/29 - 1
2-166903403-G-C c.1254C>G p.I418M Missense 12/29 - 1
2-166903407-A-C c.1250T>G p.L417W Missense 12/29 - 1
2-166903410-T-A c.1247A>T p.N416I Missense 12/29 - 1
2-166903413-AT-A c.1243del p.I415* Frameshift 12/29 - 1
2-166903420-A-T c.1237T>A p.Y413N Missense 12/29 - 1
2-166903421-G-A c.1236C>T p.F412= Synonymous 12/29 - 1
2-166903423-A-T c.1234T>A p.F412I Missense 12/29 - 1
2-166903441-C-A c.1216G>T p.V406F Missense 12/29 - 2
2-166903445-T-C c.1212A>G p.V404= Synonymous 12/29 - 3
2-166903448-A-C c.1209T>G p.F403L Missense 12/29 - 1
2-166903448-A-T c.1209T>A p.F403L Missense 12/29 - 1
2-166903450-A-C c.1207T>G p.F403V Missense 12/29 - 1
2-166903450-A-G c.1207T>C p.F403L Missense 12/29 - 1
2-166903447-C-CA c.1209dup p.V404Cfs*46 Frameshift 12/29 - 1
2-166903453-A-G c.1204T>C p.F402L Missense 12/29 - 1
2-166903454-TATC-T c.1200_1202del p.M400del InFrameDeletion 12/29 - 2
2-166903457-C-A c.1200G>T p.M400I Missense 12/29 - 1
2-166903457-C-G c.1200G>C p.M400I Missense 12/29 - 1
2-166903457-C-T c.1200G>A p.M400I Missense 12/29 - 1
2-166903459-T-C c.1198A>G p.M400V Missense 12/29 - 1
2-166903459-T-G c.1198A>C p.M400L Missense 12/29 - 1
2-166903464-G-A c.1193C>T p.T398M Missense 12/29 - 4
2-166903470-C-T c.1187G>A p.G396E Missense 12/29 - 2
2-166903471-C-G c.1186G>C p.G396R Missense 12/29 - 2
2-166903471-C-T c.1186G>A p.G396R Missense 12/29 - 1
2-166903479-C-T c.1178G>A p.R393H Missense 12/29 - 13
2-166903480-G-A c.1177C>T p.R393C Missense 12/29 - 7
2-166903480-G-T c.1177C>A p.R393S Missense 12/29 - 1
2-166903486-T-G c.1171A>C p.T391P Missense 12/29 - 1
2-166904145-A-G c.1162T>C p.Y388H Missense 11/29 - 2
2-166904148-G-A c.1159C>T p.L387F Missense 11/29 - 1
2-166904150-TT-AG c.1156_1157delinsCT p.N386L Missense 11/29 - 1
2-166904151-T-A c.1156A>T p.N386Y Missense 11/29 - 1
2-166904152-T-A c.1155A>T p.E385D Missense 11/29 - 1
2-166904152-T-G c.1155A>C p.E385D Missense 11/29 - 1
2-166904154-C-G c.1153G>C p.E385Q Missense 11/29 - 1
2-166904155-C-T c.1152G>A p.W384* Nonsense 11/29 - 2
2-166904156-C-T c.1151G>A p.W384* Nonsense 11/29 - 2
2-166904157-A-G c.1150T>C p.W384R Missense 11/29 - 4
2-166904157-A-T c.1150T>A p.W384R Missense 11/29 - 4
2-166904159-AA-TC c.1147_1148delinsGA p.F383D Missense 11/29 - 1
2-166904159-A-G c.1148T>C p.F383S Missense 11/29 - 1
2-166904158-G-C c.1149C>G p.F383L Missense 11/29 - 1
2-166904158-G-T c.1149C>A p.F383L Missense 11/29 - 1
2-166904160-A-G c.1147T>C p.F383L Missense 11/29 - 1
2-166904165-CT-C c.1142del p.Q381Rfs*10 Frameshift 11/29 - 1
2-166904165-T-C c.1142A>G p.Q381R Missense 11/29 - 1
2-166904171-A-C c.1136T>G p.M379R Missense 11/29 - 1
2-166904174-A-T c.1133T>A p.L378Q Missense 11/29 - 1
2-166904177-C-A c.1130G>T p.R377L Missense 11/29 - 1
2-166904177-C-T c.1130G>A p.R377Q Missense 11/29 - 5
2-166904178-G-A c.1129C>T p.R377* Nonsense 11/29 - 3
2-166904182-C-G c.1125G>C p.L375F Missense 11/29 - 1
2-166904186-G-T c.1121C>A p.S374Y Missense 11/29 - 1
2-166904187-A-C c.1120T>G p.S374A Missense 11/29 - 1
2-166904188-AC-A c.1119del p.L373Ffs*6 Frameshift 11/29 - 1
2-166904189-A-C c.1118T>G p.L373W Missense 11/29 - 1
2-166904209-A-C c.1098T>G p.D366E Missense 11/29 - 2
2-166904209-A-T c.1098T>A p.D366E Missense 11/29 - 2
2-166904211-C-G c.1096G>C p.D366H Missense 11/29 - 1
2-166904213-A-G c.1094T>C p.F365S Missense 11/29 - 1
2-166904219-G-C c.1088C>G p.T363R Missense 11/29 - 5
2-166904220-T-G c.1087A>C p.T363P Missense 11/29 - 1
2-166904229-A-G c.1078T>C p.Y360H Missense 11/29 - 1
2-166904231-T-C c.1076A>G p.N359S Missense 11/29 - 2
2-166904231-T-G c.1076A>C p.N359T Missense 11/29 - 1
2-166904235-G-T c.1072C>A p.P358T Missense 11/29 - 1
2-166904237-T-A c.1070A>T p.N357I Missense 11/29 - 1
2-166904238-T-A c.1069A>T p.N357Y Missense 11/29 - 1
2-166904240-CT-TG c.1066_1067delinsCA p.R356Q Missense 11/29 - 1
2-166904241-T-C c.1066A>G p.R356G Missense 11/29 - 1
2-166904243-C-T c.1064G>A p.G355D Missense 11/29 - 1
2-166904249-T-TATGTGTATCACACACATATATGTA c.1057_1058insTACATATATGTGTGTGATACACAT p.K353delinsIHICV* Frameshift 11/29 - 1
2-166904250-T-G c.1057A>C p.K353Q Missense 11/29 - 1
2-166904254-A-C c.1053T>G p.C351W Missense 11/29 - 1
2-166904254-A-T c.1053T>A p.C351* Nonsense 11/29 - 2
2-166904261-T-C c.1046A>G p.Y349C Missense 11/29 - 1
2-166904273-C-T c.1034G>A p.C345Y Missense 11/29 - 1
2-166904274-A-G c.1033T>C p.C345R Missense 11/29 - 1
2-166904346-G-A c.1029-68C>T - IntronicSNV - 10/28 1
2-166905375-A-G c.1028+21T>C - IntronicSNV - 10/28 1
2-166905396-C-T c.1028G>A p.G343D Missense 10/29 - 1
2-166905405-G-A c.1019C>T p.S340F Missense 10/29 - 1
2-166905414-C-T c.1010G>A p.G337E Missense 10/29 - 1
2-166905417-C-T c.1007G>A p.C336Y Missense 10/29 - 1
2-166905418-A-C c.1006T>G p.C336G Missense 10/29 - 1
2-166905431-T-A c.993A>T p.L331F Missense 10/29 - 1
2-166905431-TAA-ATG c.991_993delinsCAT p.L331H Missense 10/29 - 1
2-166905431-T-G c.993A>C p.L331F Missense 10/29 - 1
2-166905431-TA-T c.992del p.L331* Frameshift 10/29 - 2
2-166905431-T-TA c.992dup p.L331Ffs*9 Frameshift 10/29 - 2
2-166905438-C-A c.986G>T p.G329V Missense 10/29 - 1
2-166905438-CC-GT c.985_986delinsAC p.G329T Missense 10/29 - 1
2-166905438-C-G c.986G>C p.G329A Missense 10/29 - 1
2-166905439-C-A c.985G>T p.G329C Missense 10/29 - 1
2-166905449-A-C c.975T>G p.Y325* Nonsense 10/29 - 5
2-166905449-A-T c.975T>A p.Y325* Nonsense 10/29 - 8
2-166905450-T-C c.974A>G p.Y325C Missense 10/29 - 2
2-166905447-AAAT-A c.974_976del p.Y325del InFrameDeletion 10/29 - 2
2-166905453-T-G c.971A>C p.H324P Missense 10/29 - 1
2-166905454-G-A c.970C>T p.H324Y Missense 10/29 - 1
2-166905455-A-C c.969T>G p.Y323* Nonsense 10/29 - 1
2-166905459-C-A c.965G>T p.R322I Missense 10/29 - 3
2-166908235-C-A c.958G>T p.D320Y Missense 9/29 - 1
2-166908256-C-A c.937G>T p.D313Y Missense 9/29 - 1
2-166908262-C-A c.931G>T p.E311* Nonsense 9/29 - 2
2-166908284-T-C c.909A>G p.T303= Synonymous 9/29 - 1
2-166908296-A-G c.897T>C p.N299= Synonymous 9/29 - 1
2-166908303-G-A c.890C>T p.T297I Missense 9/29 - 2
2-166908303-G-T c.890C>A p.T297N Missense 9/29 - 1
2-166908324-T-C c.869A>G p.H290R Missense 9/29 - 1
2-166908326-T-C c.867A>G p.E289= Synonymous 9/29 - 1
2-166908327-T-A c.866A>T p.E289V Missense 9/29 - 1
2-166908346-TG-T c.846del p.T283Pfs*10 Frameshift 9/29 - 1
2-166908351-G-A c.842C>T p.P281L Missense 9/29 - 2
2-166908352-G-A c.841C>T p.P281S Missense 9/29 - 1
2-166908352-G-C c.841C>G p.P281A Missense 9/29 - 1
2-166908353-C-A c.840G>T p.W280C Missense 9/29 - 1
2-166908353-C-G c.840G>C p.W280C Missense 9/29 - 1
2-166908355-A-G c.838T>C p.W280R Missense 9/29 - 3
2-166908355-A-T c.838T>A p.W280R Missense 9/29 - 2
2-166908355-A-AT c.837dup p.W280Mfs*12 Frameshift 9/29 - 1
2-166908360-A-T c.833T>A p.I278K Missense 9/29 - 1
2-166908364-A-G c.829T>C p.C277R Missense 9/29 - 3
2-166908368-A-C c.825T>G p.N275K Missense 9/29 - 2
2-166908368-A-T c.825T>A p.N275K Missense 9/29 - 1
2-166908369-T-C c.824A>G p.N275S Missense 9/29 - 1
2-166908370-T-A c.823A>T p.N275Y Missense 9/29 - 1
2-166908371-C-A c.822G>T p.R274S Missense 9/29 - 1
2-166908371-C-G c.822G>C p.R274S Missense 9/29 - 1
2-166908375-A-T c.818T>A p.L273Q Missense 9/29 - 1
2-166908376-G-C c.817C>G p.L273V Missense 9/29 - 1
2-166908386-G-T c.807C>A p.F269L Missense 9/29 - 1
2-166908400-C-A c.793G>T p.G265W Missense 9/29 - 1
2-166908402-A-G c.791T>C p.I264T Missense 9/29 - 1
2-166908403-T-G c.790A>C p.I264L Missense 9/29 - 1
2-166908405-A-T c.788T>A p.L263Q Missense 9/29 - 2
2-166908406-G-C c.787C>G p.L263V Missense 9/29 - 15
2-166908416-G-C c.777C>G p.S259R Missense 9/29 - 1
2-166908416-G-T c.777C>A p.S259R Missense 9/29 - 1
2-166908418-T-G c.775A>C p.S259R Missense 9/29 - 1
2-166908432-G-A c.761C>T p.T254I Missense 9/29 - 1
2-166908429-ACAGT-A c.760_763del p.T254Cfs*4 Frameshift 9/29 - 1
2-166908437-G-C c.756C>G p.I252M Missense 9/29 - 1
2-166908438-A-T c.755T>A p.I252N Missense 9/29 - 1
2-166908441-A-T c.752T>A p.M251K Missense 9/29 - 1
2-166908446-A-C c.747T>G p.D249E Missense 9/29 - 1
2-166908446-A-T c.747T>A p.D249E Missense 9/29 - 1
2-166908449-TG-AA c.743_744delinsTT p.S248F Missense 9/29 - 2
2-166908450-GA-CT c.742_743delinsAG p.S248R Missense 9/29 - 1
2-166908452-AGAG-A c.739_741del p.L247del InFrameDeletion 9/29 - 1
2-166908458-C-A c.735G>T p.K245N Missense 9/29 - 1
2-166908458-C-G c.735G>C p.K245N Missense 9/29 - 1
2-166908454-GCTT-G c.736_738del p.K246del InFrameDeletion 9/29 - 1
2-166908463-C-A c.730G>T p.V244L Missense 9/29 - 2
2-166908463-C-G c.730G>C p.V244L Missense 9/29 - 1
2-166908463-C-T c.730G>A p.V244M Missense 9/29 - 1
2-166908468-T-C c.725A>G p.Q242R Missense 9/29 - 1
2-166908469-G-A c.724C>T p.Q242* Nonsense 9/29 - 1
2-166908477-G-A c.716C>T p.A239V Missense 9/29 - 4
2-166908478-C-T c.715G>A p.A239T Missense 9/29 - 1
2-166908484-C-A c.709G>T p.V237L Missense 9/29 - 1
2-166908484-C-G c.709G>C p.V237L Missense 9/29 - 1
2-166908486-A-G c.707T>C p.I236T Missense 9/29 - 2
2-166908487-T-A c.706A>T p.I236F Missense 9/29 - 1
2-166908495-A-C c.698T>G p.L233R Missense 9/29 - 1
2-166908497-G-C c.696C>G p.G232= Synonymous 9/29 - 1
2-166908498-C-A c.695G>T p.G232V Missense 9/29 - 1
2-166908498-C-G c.695G>C p.G232A Missense 9/29 - 1
2-166908498-C-T c.695G>A p.G232D Missense 9/29 - 1
2-166909135-A-C c.694+227T>G - IntronicSNV - 8/28 1
2-166909362-C-T c.694G>A p.G232S Missense 8/29 - 2
2-166909367-A-G c.689T>C p.I230T Missense 8/29 - 1
2-166909374-A-G c.682T>C p.S228P Missense 8/29 - 2
2-166909376-A-C c.680T>G p.I227S Missense 8/29 - 4
2-166909376-A-G c.680T>C p.I227T Missense 8/29 - 2
2-166909379-G-A c.677C>T p.T226M Missense 8/29 - 20
2-166909379-G-C c.677C>G p.T226R Missense 8/29 - 2
2-166909379-G-T c.677C>A p.T226K Missense 8/29 - 2
2-166909385-A-G c.671T>C p.L224S Missense 8/29 - 1
2-166909388-G-T c.668C>A p.A223E Missense 8/29 - 1
2-166909392-G-A c.664C>T p.R222* Nonsense 8/29 - 13
2-166909394-A-G c.662T>C p.L221P Missense 8/29 - 1
2-166909397-A-T c.659T>A p.V220D Missense 8/29 - 2
2-166909397-ACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGT-A c.623_658del p.D208_R219del InFrameDeletion 8/29 - 1
2-166909397-ACT-A c.657_658del p.R219Sfs*57 Frameshift 8/29 - 1
2-166909400-C-G c.656G>C p.R219T Missense 8/29 - 1
2-166909404-A-G c.652T>C p.F218L Missense 8/29 - 1
2-166909406-G-T c.650C>A p.T217K Missense 8/29 - 2
2-166909409-C-G c.647G>C p.R216T Missense 8/29 - 1
2-166909410-T-A c.646A>T p.R216* Nonsense 8/29 - 1
2-166909416-C-T c.640G>A p.A214T Missense 8/29 - 1
2-166909418-G-C c.638C>G p.S213W Missense 8/29 - 2
2-166909422-C-A c.634G>T p.V212F Missense 8/29 - 1
2-166909423-AT-A c.632del p.N211Mfs*5 Frameshift 8/29 - 1
2-166909427-C-T c.629G>A p.G210D Missense 8/29 - 1
2-166909430-A-AG c.625dup p.L209Pfs*68 Frameshift 8/29 - 1
2-166909434-C-T c.622G>A p.D208N Missense 8/29 - 1
2-166909436-A-C c.620T>G p.V207G Missense 8/29 - 2
2-166909439-AA-GT c.616_617delinsAC p.F206T Missense 8/29 - 1
2-166909450-G-T c.606C>A p.Y202* Nonsense 8/29 - 1
2-166909451-T-A c.605A>T p.Y202F Missense 8/29 - 1
2-166909544-C-T c.603-91G>A - IntronicSNV - 7/28 52
2-166909559-C-A c.603-106G>T - IntronicSNV - 7/28 2
2-166909559-C-T c.603-106G>A - IntronicSNV - 7/28 2
2-166909695-A-G c.603-242T>C - IntronicSNV - 7/28 1
2-166909751-T-C c.603-298A>G - IntronicSNV - 7/28 1
2-166910209-G-A c.603-756C>T - IntronicSNV - 7/28 2
2-166910209-G-T c.603-756C>A - IntronicSNV - 7/28 2
2-166911147-C-A c.602+1G>T - IntronicSNV - 7/28 1
2-166911147-C-G c.602+1G>C - IntronicSNV - 7/28 1
2-166911147-C-T c.602+1G>A - IntronicSNV - 7/28 1
2-166911148-CGCAAATG-C c.596_602del p.T199Sfs*15 SpliceDonorDeletion 7/29 - 4
2-166911148-G-A c.602C>T p.A201V Missense 7/29 - 1
2-166911148-G-T c.602C>A p.A201E Missense 7/29 - 1
2-166911151-AA-GC c.598_599delinsGC p.F200A Missense 7/29 - 1
2-166911154-G-C c.596C>G p.T199R Missense 7/29 - 1
2-166911169-T-C c.581A>G p.D194G Missense 7/29 - 1
2-166911170-C-T c.580G>A p.D194N Missense 7/29 - 4
2-166911173-G-A c.577C>T p.L193F Missense 7/29 - 1
2-166911177-G-C c.573C>G p.N191K Missense 7/29 - 2
2-166911177-G-T c.573C>A p.N191K Missense 7/29 - 2
2-166911179-T-A c.571A>T p.N191Y Missense 7/29 - 1
2-166911180-C-T c.570G>A p.W190* Nonsense 7/29 - 1
2-166911181-C-T c.569G>A p.W190* Nonsense 7/29 - 3
2-166911182-A-G c.568T>C p.W190R Missense 7/29 - 2
2-166911182-A-T c.568T>A p.W190R Missense 7/29 - 1
2-166911186-GA-G c.564del p.P189Hfs*27 Frameshift 7/29 - 1
2-166911187-T-A c.563A>T p.D188V Missense 7/29 - 11
2-166911187-T-G c.563A>C p.D188A Missense 7/29 - 1
2-166911190-CG-TA c.559_560delinsTA p.R187* Nonsense 7/29 - 1
2-166911190-C-T c.560G>A p.R187Q Missense 7/29 - 1
2-166911191-G-A c.559C>T p.R187W Missense 7/29 - 3
2-166911193-A-G c.557T>C p.L186P Missense 7/29 - 1
2-166911202-A-G c.548T>C p.F183S Missense 7/29 - 1
2-166911204-ATCT-A c.543_545del p.E181del InFrameDeletion 7/29 - 1
2-166911211-A-C c.539T>G p.L180* Nonsense 7/29 - 1
2-166911211-A-T c.539T>A p.L180* Nonsense 7/29 - 1
2-166911210-TA-T c.539del p.L180* Frameshift 7/29 - 1
2-166911215-A-G c.535T>C p.C179R Missense 7/29 - 1
2-166911217-A-G c.533T>C p.F178S Missense 7/29 - 1
2-166911220-C-T c.530G>A p.G177E Missense 7/29 - 4
2-166911219-TC-T c.530del p.G177Dfs*4 Frameshift 7/29 - 1
2-166911223-CT-TA c.526_527delinsTA p.R176* Nonsense 7/29 - 1
2-166911223-CT-TG c.526_527delinsCA p.R176Q Missense 7/29 - 1
2-166911226-G-A c.524C>T p.A175V Missense 7/29 - 4
2-166911227-C-T c.523G>A p.A175T Missense 7/29 - 3
2-166911238-A-C c.512T>G p.I171R Missense 7/29 - 1
2-166911238-A-T c.512T>A p.I171K Missense 7/29 - 2
2-166911241-A-G c.509T>C p.L170P Missense 7/29 - 1
2-166911244-TG-T c.506del p.S169Yfs*3 Frameshift 7/29 - 1
2-166911257-A-G c.493T>C p.Y165H Missense 7/29 - 2
2-166911266-T-G c.484A>C p.T162P Missense 7/29 - 1
2-166911271-G-T c.479C>A p.T160N Missense 7/29 - 2
2-166911275-A-G c.475T>C p.Y159H Missense 7/29 - 1
2-166911912-G-A c.474-636C>T - IntronicSNV - 6/28 1
2-166911912-G-T c.474-636C>A - IntronicSNV - 6/28 1
2-166912922-C-G c.472G>C p.E158Q Missense 6/29 - 1
2-166912929-C-A c.465G>T p.K155N Missense 6/29 - 1
2-166912929-C-G c.465G>C p.K155N Missense 6/29 - 1
2-166912935-C-T c.459G>A p.W153* Nonsense 6/29 - 1
2-166912959-C-A c.435G>T p.M145I Missense 6/29 - 1
2-166912960-A-G c.434T>C p.M145T Missense 6/29 - 11
2-166912959-CAT-C c.433_434del p.M145Dfs*4 Frameshift 6/29 - 1
2-166912966-A-G c.428T>C p.V143A Missense 6/29 - 1
2-166912986-G-TC c.408delinsGA p.C136Wfs*14 Frameshift 6/29 - 1
2-166913001-G-C c.393C>G p.S131R Missense 6/29 - 1
2-166913004-GAAT-G c.387_389del p.L129del InFrameDeletion 6/29 - 1
2-166913009-A-AT c.384dup p.L129Ifs*21 SpliceAcceptorInsertion - - 1
2-166913439-A-G c.384-429T>C - IntronicSNV - 5/28 1
2-166915014-A-G c.383+66T>C - IntronicSNV - 5/28 4
2-166915080-G-A c.383C>T p.S128L Missense 5/29 - 1
2-166915080-G-T c.383C>A p.S128* Nonsense 5/29 - 1
2-166915083-T-A c.380A>T p.H127L Missense 5/29 - 1
2-166915084-G-A c.379C>T p.H127Y Missense 5/29 - 1
2-166915084-G-C c.379C>G p.H127D Missense 5/29 - 2
2-166915092-A-T c.371T>A p.I124N Missense 5/29 - 1
2-166915099-T-C c.364A>G p.I122V Missense 5/29 - 1
2-166915101-AG-A c.362del p.A121Vfs*13 Frameshift 5/29 - 1
2-166915102-C-T c.361G>A p.A121T Missense 5/29 - 1
2-166915109-C-A c.354G>T p.R118S Missense 5/29 - 3
2-166915109-C-G c.354G>C p.R118S Missense 5/29 - 3
2-166915125-G-C c.338C>G p.P113R Missense 5/29 - 1
2-166915126-G-T c.337C>A p.P113T Missense 5/29 - 2
2-166915128-G-A c.335C>T p.T112I Missense 5/29 - 1
2-166915131-A-T c.332T>A p.L111* Nonsense 5/29 - 1
2-166915140-A-C c.323T>G p.L108R Missense 5/29 - 1
2-166915146-G-A c.317C>T p.S106F Missense 5/29 - 1
2-166915149-G-A c.314C>T p.T105I Missense 5/29 - 1
2-166915152-G-A c.311C>T p.A104V Missense 5/29 - 4
2-166915149-GTGGCACTGAACCGGAAGA-G c.296_313del p.I99_A104del InFrameDeletion 5/29 - 2
2-166915156-T-C c.307A>G p.S103G Missense 5/29 - 2
2-166915157-GAA-TTG c.304_306delinsCAA p.F102Q Missense 5/29 - 1
2-166915157-GA-CC c.305_306delinsGG p.F102W Missense 5/29 - 1
2-166915158-A-G c.305T>C p.F102S Missense 5/29 - 1
2-166915157-GA-G c.305del p.F102Sfs*10 Frameshift 5/29 - 1
2-166915157-G-C c.306C>G p.F102L Missense 5/29 - 1
2-166915157-G-T c.306C>A p.F102L Missense 5/29 - 1
2-166915159-A-G c.304T>C p.F102L Missense 5/29 - 1
2-166915161-C-T c.302G>A p.R101Q Missense 5/29 - 9
2-166915162-G-A c.301C>T p.R101W Missense 5/29 - 5
2-166915165-A-C c.298T>G p.F100V Missense 5/29 - 1
2-166915169-GG-CT c.293_294delinsAG p.A98E Missense 5/29 - 1
2-166915171-C-G c.292G>C p.A98P Missense 5/29 - 1
2-166915191-A-G c.272T>C p.I91T Missense 5/29 - 5
2-166915194-A-G c.269T>C p.F90S Missense 5/29 - 6
2-166915335-C-A c.265-137G>T - IntronicSNV - 4/28 2
2-166915897-T-C c.265-699A>G - IntronicSNV - 4/28 3
2-166916033-A-G c.265-835T>C - IntronicSNV - 4/28 1
2-166918027-C-T c.265-2829G>A - IntronicSNV - 4/28 1
2-166918048-A-G c.265-2850T>C - IntronicSNV - 4/28 1
2-166918293-G-T c.265-3095C>A - IntronicSNV - 4/28 4
2-166918402-A-G c.265-3204T>C - IntronicSNV - 4/28 1
2-166918443-T-A c.265-3245A>T - IntronicSNV - 4/28 1
2-166919162-G-A c.265-3964C>T - IntronicSNV - 4/28 1
2-166920787-T-C c.265-5589A>G - IntronicSNV - 4/28 2
2-166922001-T-C c.265-6803A>G - IntronicSNV - 4/28 2
2-166922001-T-G c.265-6803A>C - IntronicSNV - 4/28 2
2-166922028-C-G c.265-6830G>C - IntronicSNV - 4/28 1
2-166922028-C-T c.265-6830G>A - IntronicSNV - 4/28 1
2-166922213-T-C c.265-7015A>G - IntronicSNV - 4/28 1
2-166923359-C-G c.264+6509G>C - IntronicSNV - 4/28 3
2-166924472-G-A c.264+5396C>T - IntronicSNV - 4/28 2
2-166925171-T-A c.264+4697A>T - IntronicSNV - 4/28 2
2-166925171-T-G c.264+4697A>C - IntronicSNV - 4/28 2
2-166926401-T-C c.264+3467A>G - IntronicSNV - 4/28 1
2-166926428-T-C c.264+3440A>G - IntronicSNV - 4/28 4
2-166927659-C-T c.264+2209G>A - IntronicSNV - 4/28 1
2-166927896-T-C c.264+1972A>G - IntronicSNV - 4/28 1
2-166929872-TT-GC c.259_260delinsGC p.K87A Missense 4/29 - 9
2-166929884-T-G c.248A>C p.Y83S Missense 4/29 - 1
2-166929889-GGTC-G c.241_243del p.D81del InFrameDeletion 4/29 - 1
2-166929891-C-T c.241G>A p.D81N Missense 4/29 - 1
2-166929887-GGGTCCA-G c.239_244del p.L80_D81del InFrameDeletion 4/29 - 1
2-166929897-C-G c.235G>C p.D79H Missense 4/29 - 1
2-166929897-C-T c.235G>A p.D79N Missense 4/29 - 4
2-166929898-C-A c.234G>T p.E78D Missense 4/29 - 2
2-166929898-C-G c.234G>C p.E78D Missense 4/29 - 2
2-166929900-C-T c.232G>A p.E78K Missense 4/29 - 1
2-166929907-C-A c.225G>T p.E75D Missense 4/29 - 2
2-166929907-C-G c.225G>C p.E75D Missense 4/29 - 1
2-166929908-T-C c.224A>G p.E75G Missense 4/29 - 1
2-166929915-C-A c.217G>T p.V73L Missense 4/29 - 1
2-166929915-C-G c.217G>C p.V73L Missense 4/29 - 1
2-166929920-T-G c.212A>C p.E71A Missense 4/29 - 1
2-166929929-A-G c.203T>C p.I68T Missense 4/29 - 1
2-166929937-A-C c.195T>G p.Y65* Nonsense 4/29 - 1
2-166929937-A-T c.195T>A p.Y65* Nonsense 4/29 - 1
2-166929943-A-C c.189T>G p.F63L Missense 4/29 - 2
2-166929943-A-T c.189T>A p.F63L Missense 4/29 - 2
2-166929945-A-G c.187T>C p.F63L Missense 4/29 - 2
2-166929948-GAAGGTTCTTTCC-G c.172_183del p.G58_L61del InFrameDeletion 4/29 - 1
2-166929950-A-G c.182T>C p.L61P Missense 4/29 - 6
2-166929951-G-A c.181C>T p.L61F Missense 4/29 - 3
2-166929959-C-A c.173G>T p.G58V Missense 4/29 - 1
2-166929960-C-A c.172G>T p.G58* Nonsense 4/29 - 1
2-166929960-C-T c.172G>A p.G58R Missense 4/29 - 1
2-166929977-TT-GC c.154_155delinsGC p.N52A Missense 4/29 - 2
2-166929990-C-A c.142G>T p.G48C Missense 4/29 - 1
2-166929991-AT-A c.140del p.N47Mfs*45 Frameshift 4/29 - 1
2-166929997-G-A c.135C>T p.D45= Synonymous 4/29 - 2
2-166929997-G-C c.135C>G p.D45E Missense 4/29 - 1
2-166929999-C-T c.133G>A p.D45N Missense 4/29 - 1
2-166930012-G-A c.120C>T p.D40= Synonymous 4/29 - 1
2-166930023-G-A c.109C>T p.P37S Missense 4/29 - 1
2-166930040-T-G c.92A>C p.E31A Missense 4/29 - 1
2-166930044-C-T c.88G>A p.A30T Missense 4/29 - 1
2-166930050-G-A c.82C>T p.R28C Missense 4/29 - 2
2-166930052-C-G c.80G>C p.R27T Missense 4/29 - 3
2-166930060-A-C c.72T>G p.A24= Synonymous 4/29 - 1
2-166930060-A-G c.72T>C p.A24= Synonymous 4/29 - 1
2-166930060-A-T c.72T>A p.A24= Synonymous 4/29 - 1
2-166930064-G-A c.68C>T p.A23V Missense 4/29 - 1
2-166930064-G-C c.68C>G p.A23G Missense 4/29 - 1
2-166930068-G-A c.64C>T p.L22F Missense 4/29 - 1
2-166930071-A-G c.61T>C p.S21P Missense 4/29 - 1
2-166930076-C-T c.56G>A p.R19K Missense 4/29 - 1
2-166930076-CTGG-C c.53_55del p.T18del InFrameDeletion 4/29 - 2
2-166930080-TGAA-T c.49_51del p.F17del InFrameDeletion 4/29 - 1
2-166930094-CT-GC c.37_38delinsGC p.S13A Missense 4/29 - 1
2-166930094-CT-TC c.37_38delinsGA p.S13D Missense 4/29 - 1
2-166930095-T-A c.37A>T p.S13C Missense 4/29 - 1
2-166930097-T-C c.35A>G p.D12G Missense 4/29 - 1
2-166930097-TC-AA c.34_35delinsTT p.D12F Missense 4/29 - 1
2-166930100-G-T c.32C>A p.P11H Missense 4/29 - 1
2-166930101-G-A c.31C>T p.P11S Missense 4/29 - 5
2-166930109-G-A c.23C>T p.P8L Missense 4/29 - 1
2-166930108-TG-T c.23del p.P8Hfs*84 Frameshift 4/29 - 1
2-166930125-G-A c.7C>T p.Q3* Nonsense 4/29 - 1
2-166930129-C-T c.3G>A p.M1? Missense 4/29 - 1
2-166931326-A-G c.-49-1146T>C - IntergenicSNV - 3/28 1
2-166943277-T-A c.-141-8966A>T - IntergenicSNV - 2/28 7
2-166943277-T-G c.-141-8966A>C - IntergenicSNV - 2/28 7
2-166940353-T-C c.-141-6042A>G - intron_variant - 2/28 1
2-166950510-C-T c.-141-16199G>A - IntergenicSNV - 2/28 1
2-166978750-C-A c.-142+4684G>T - intron_variant - 2/28 10
2-166979889-T-C c.-142+3545A>G - intron_variant - 2/28 4