ABCA4 ATP binding cassette subfamily A member 4

Canonical transcript: NM_000350

1157 unique variant annotations were identified in 400 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-94458800-T-G c.6817-2A>C - IntronicSNV - 49/49 2
1-94461664-C-T c.6816+1G>A - IntronicSNV - 49/49 2
1-94461664-C-A c.6816+1G>T - IntronicSNV - 49/49 1
1-94461717-C-A c.6764G>T p.Ser2255Ile Missense 49/50 - 10
1-94461735-G-T c.6746C>A p.Ala2249Asp Missense 49/50 - 1
1-94461738-A-G c.6743T>C p.Phe2248Ser Missense 49/50 - 1
1-94461749-C-T c.6732G>A p.Val2244Val Synonymous 49/50 - 2
1-94461754-A-G c.6730-3T>C - IntronicSNV - 48/49 2
1-94462292-A-G c.6730-541T>C - IntronicSNV - 48/49 1
1-94462330-A-G c.6730-579T>C - IntronicSNV - 48/49 1
1-94463396-G-A c.6729+21C>T - IntronicSNV - 48/49 2
1-94463399-TGCCCCAGGGCCAACT-T c.6729+5_6729+19del - IntronicDeletion - 48/49 3
1-94463419-TGGTCCAGTGTGGTCTGTGTGACTGAGTACTCCTCGATGAGCAGGCTGTCCTTGTGGGAG-T c.6669_6727del p.Ser2224Glyfs*7 InFrameDeletion 48/50 - 1
1-94463424-A-G c.6722T>C p.Leu2241Pro Missense 48/50 - 1
1-94463425-G-C c.6721C>G p.Leu2241Val Missense 48/50 - 3
1-94463428-T-C c.6718A>G p.Thr2240Ala Missense 48/50 - 2
1-94463435-T-TT c.6711dup p.Gln2238Thrfs*13 Frameshift 48/50 - 1
1-94463437-T-G c.6709A>C p.Thr2237Pro Missense 48/50 - 1
1-94463437-T-TT c.6709dup p.Thr2237Asnfs*14 Frameshift 48/50 - 1
1-94463442-G-C c.6704C>G p.Ser2235* Nonsense 48/50 - 1
1-94463452-C-T c.6694G>A p.Glu2232Lys Missense 48/50 - 2
1-94463460-A-G c.6686T>C p.Leu2229Pro Missense 48/50 - 2
1-94463476-GA-G c.6670del p.Ser2224Profs*23 Frameshift 48/50 - 4
1-94463488-G-A c.6658C>T p.Gln2220* Nonsense 48/50 - 10
1-94463488-G-T c.6658C>A p.Gln2220Lys Missense 48/50 - 1
1-94463499-G-A c.6647C>T p.Ala2216Val Missense 48/50 - 2
1-94463521-G-A c.6625C>T p.Gln2209* Nonsense 48/50 - 1
1-94463537-G-C c.6609C>G p.Tyr2203* Nonsense 48/50 - 1
1-94463537-G-T c.6609C>A p.Tyr2203* Nonsense 48/50 - 1
1-94463568-GAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCAGG-G c.6545_6580del p.Leu2182_Phe2193del InFrameDeletion 48/50 - 2
1-94463583-A-G c.6563T>C p.Phe2188Ser Missense 48/50 - 3
1-94463587-G-A c.6559C>T p.Gln2187* Nonsense 48/50 - 2
1-94463588-C-T c.6558G>A p.Glu2186Glu Synonymous 48/50 - 1
1-94463603-G-A c.6543C>T p.Asp2181Asp Synonymous 48/50 - 1
1-94463607-G-A c.6539C>T p.Pro2180Leu Missense 48/50 - 2
1-94463610-AA-A c.6537del p.Pro2180Leufs*3 Frameshift 48/50 - 2
1-94463617-C-T c.6529G>A p.Asp2177Asn Missense 48/50 - 19
1-94463631-T-C c.6515A>G p.Lys2172Arg Missense 48/50 - 1
1-94463648-G-C c.6498C>G p.Ile2166Met Missense 48/50 - 1
1-94466066-G-T c.6479+326C>A - IntronicSNV - 47/49 1
1-94466066-G-A c.6479+326C>T - IntronicSNV - 47/49 1
1-94466066-G-C c.6479+326C>G - IntronicSNV - 47/49 1
1-94466088-A-G c.6479+304T>C - IntronicSNV - 47/49 1
1-94466390-A-G c.6479+2T>C - IntronicSNV - 47/49 1
1-94466391-C-T c.6479+1G>A - IntronicSNV - 47/49 4
1-94466391-C-G c.6479+1G>C - IntronicSNV - 47/49 1
1-94466393-T-C c.6478A>G p.Lys2160Glu Missense 47/50 - 2
1-94466416-C-A c.6455G>T p.Gly2152Val Missense 47/50 - 1
1-94466422-C-T c.6449G>A p.Cys2150Tyr Missense 47/50 - 14
1-94466423-A-G c.6448T>C p.Cys2150Arg Missense 47/50 - 4
1-94466426-G-A c.6445C>T p.Arg2149* Nonsense 47/50 - 16
1-94466434-C-T c.6437G>A p.Gly2146Asp Missense 47/50 - 2
1-94466447-T-C c.6424A>G p.Ile2142Val Missense 47/50 - 1
1-94466452-A-T c.6419T>A p.Leu2140Gln Missense 47/50 - 1
1-94466455-C-G c.6416G>C p.Arg2139Pro Missense 47/50 - 1
1-94466456-G-A c.6415C>T p.Arg2139Trp Missense 47/50 - 1
1-94466460-A-T c.6411T>A p.Cys2137* Nonsense 47/50 - 1
1-94466461-C-T c.6410G>A p.Cys2137Tyr Missense 47/50 - 3
1-94466477-C-A c.6394G>T p.Glu2132* Nonsense 47/50 - 1
1-94466477-C-T c.6394G>A p.Glu2132Lys Missense 47/50 - 2
1-94466480-C-T c.6391G>A p.Glu2131Lys Missense 47/50 - 2
1-94466482-A-T c.6389T>A p.Met2130Lys Missense 47/50 - 2
1-94466484-G-A c.6387C>T p.Ser2129Ser Synonymous 47/50 - 1
1-94466484-G-C c.6387C>G p.Ser2129Arg Missense 47/50 - 1
1-94466556-G-C c.6386+2C>G - IntronicSNV - 46/49 2
1-94466557-C-T c.6386+1G>A - IntronicSNV - 46/49 2
1-94466559-T-C c.6385A>G p.Ser2129Gly Missense 46/50 - 3
1-94466561-T-C c.6383A>G p.His2128Arg Missense 46/50 - 3
1-94466587-T-C c.6357A>G p.Glu2119Glu Synonymous 46/50 - 1
1-94466591-CT-GA c.6352_6353delinsTC p.Arg2118Ser Missense 46/50 - 1
1-94466602-C-G c.6342G>C p.Val2114Val Synonymous 46/50 - 3
1-94466602-C-T c.6342G>A p.Val2114Val Synonymous 46/50 - 4
1-94466611-G-A c.6333C>T p.Asn2111Asn Synonymous 46/50 - 1
1-94466615-C-T c.6329G>A p.Trp2110* Nonsense 46/50 - 2
1-94466621-CATGCGGC-C c.6319_6325del p.Arg2107Cysfs*6 Frameshift 46/50 - 2
1-94466624-C-G c.6320G>C p.Arg2107Pro Missense 46/50 - 2
1-94466624-C-T c.6320G>A p.Arg2107His Missense 46/50 - 23
1-94466625-G-A c.6319C>T p.Arg2107Cys Missense 46/50 - 1
1-94466627-C-G c.6317G>C p.Arg2106Pro Missense 46/50 - 1
1-94466627-C-T c.6317G>A p.Arg2106His Missense 46/50 - 2
1-94466628-G-A c.6316C>T p.Arg2106Cys Missense 46/50 - 9
1-94466632-C-A c.6312G>T p.Gln2104His Missense 46/50 - 1
1-94466632-C-G c.6312G>C p.Gln2104His Missense 46/50 - 1
1-94466638-G-T c.6306C>A p.Asp2102Glu Missense 46/50 - 2
1-94466658-C-T c.6286G>A p.Glu2096Lys Missense 46/50 - 2
1-94466659-A-G c.6285T>C p.Asp2095Asp Synonymous 46/50 - 7
1-94466660-T-C c.6284A>G p.Asp2095Gly Missense 46/50 - 1
1-94466660-T-A c.6284A>T p.Asp2095Val Missense 46/50 - 1
1-94467407-C-T c.6282+7G>A - IntronicSNV - 45/49 2
1-94467411-T-A c.6282+3A>T - IntronicSNV - 45/49 1
1-94467413-C-T c.6282+1G>A - IntronicSNV - 45/49 1
1-94467413-C-G c.6282+1G>C - IntronicSNV - 45/49 1
1-94467446-C-G c.6250G>C p.Ala2084Pro Missense 45/50 - 1
1-94467446-C-T c.6250G>A p.Ala2084Thr Missense 45/50 - 1
1-94467447-G-A c.6249C>T p.Ile2083Ile Synonymous 45/50 - 9
1-94467447-G-C c.6249C>G p.Ile2083Met Missense 45/50 - 2
1-94467447-G-T c.6249C>A p.Ile2083Ile Synonymous 45/50 - 7
1-94467460-GAG-G c.6238_6239del p.Ser2080Hisfs*16 Frameshift 45/50 - 1
1-94467466-C-T c.6230G>A p.Arg2077Gln Missense 45/50 - 1
1-94467467-G-C c.6229C>G p.Arg2077Gly Missense 45/50 - 3
1-94467467-G-A c.6229C>T p.Arg2077Trp Missense 45/50 - 24
1-94467475-C-A c.6221G>T p.Gly2074Val Missense 45/50 - 2
1-94467480-A-G c.6216T>C p.Ser2072Ser Synonymous 45/50 - 1
1-94467481-C-T c.6215G>A p.Ser2072Asn Missense 45/50 - 1
1-94467487-G-C c.6209C>G p.Thr2070Arg Missense 45/50 - 1
1-94467505-G-A c.6191C>T p.Ala2064Val Missense 45/50 - 1
1-94467506-C-T c.6190G>A p.Ala2064Thr Missense 45/50 - 1
1-94467511-GACAG-G c.6184_6187del p.Val2062Thrfs*52 Frameshift 45/50 - 1
1-94467517-A-C c.6179T>G p.Leu2060Arg Missense 45/50 - 2
1-94467520-C-G c.6176G>C p.Gly2059Ala Missense 45/50 - 1
1-94467523-A-C c.6173T>G p.Leu2058Arg Missense 45/50 - 1
1-94467530-T-A c.6166A>T p.Lys2056* Nonsense 45/50 - 5
1-94467543-TT-T c.6155del p.Asn2052Thrfs*9 Frameshift 45/50 - 2
1-94467548-C-G c.6148G>C p.Val2050Leu Missense 45/50 - 18
1-94467969-A-G c.6148-421T>C - IntronicSNV - 44/49 1
1-94468019-G-A c.6148-471C>T - IntronicSNV - 44/49 1
1-94468037-G-A c.6148-489C>T - IntronicSNV - 44/49 1
1-94469573-G-T c.6147+1424C>A - IntronicSNV - 44/49 1
1-94470995-A-T c.6147+2T>A - IntronicSNV - 44/49 1
1-94470997-C-T c.6147G>A p.Lys2049Lys Synonymous 44/50 - 1
1-94471001-TT-T c.6146del p.Lys2049Argfs*12 Frameshift 44/50 - 1
1-94471004-A-T c.6140T>A p.Ile2047Asn Missense 44/50 - 2
1-94471022-C-T c.6122G>A p.Gly2041Asp Missense 44/50 - 1
1-94471025-C-T c.6119G>A p.Arg2040Gln Missense 44/50 - 3
1-94471026-G-A c.6118C>T p.Arg2040* Nonsense 44/50 - 6
1-94471032-G-A c.6112C>T p.Arg2038Trp Missense 44/50 - 8
1-94471037-T-C c.6107A>G p.Tyr2036Cys Missense 44/50 - 2
1-94471046-A-T c.6098T>A p.Leu2033His Missense 44/50 - 1
1-94471049-T-C c.6095A>G p.His2032Arg Missense 44/50 - 2
1-94471055-CG-GA c.6088_6089delinsTC p.Arg2030Ser Missense 44/50 - 1
1-94471055-C-T c.6089G>A p.Arg2030Gln Missense 44/50 - 31
1-94471056-G-A c.6088C>T p.Arg2030* Nonsense 44/50 - 17
1-94471061-G-A c.6083C>T p.Thr2028Ile Missense 44/50 - 1
1-94471064-A-G c.6080T>C p.Leu2027Pro Missense 44/50 - 1
1-94471065-G-A c.6079C>T p.Leu2027Phe Missense 44/50 - 37
1-94471067-A-G c.6077T>C p.Leu2026Pro Missense 44/50 - 2
1-94471075-A-G c.6069T>C p.Ile2023Ile Synonymous 44/50 - 6
1-94471078-T-C c.6066A>G p.Ala2022Ala Synonymous 44/50 - 1
1-94471100-CCCATATTTTGATG-AAATATTGGTTAAATACT c.6031_6044delinsAGTATTTAACCAATATTT p.His2011Serfs*3 Frameshift 44/50 - 1
1-94471100-GCCCATATTTTGATG-G c.6032_6045del p.His2011Leufs*6 Frameshift 44/50 - 1
1-94471138-A-AGA c.6006_6007insCT p.Ile2003Leufs*3 SpliceAcceptorInsertion - - 1
1-94471154-C-T c.6006-16G>A - IntronicSNV - 43/49 1
1-94471747-A-T c.6006-609T>A - IntronicSNV - 43/49 3
1-94473189-C-A c.6005+1G>T - IntronicSNV - 43/49 3
1-94473189-C-G c.6005+1G>C - IntronicSNV - 43/49 1
1-94473189-C-T c.6005+1G>A - IntronicSNV - 43/49 1
1-94473190-CC-C c.6005+1del - IntronicDeletion 43/50 - 1
1-94473256-G-A c.5939C>T p.Thr1980Ile Missense 43/50 - 1
1-94473261-TT-TG c.5933delinsC p.Lys1978Thr Missense 43/50 - 4
1-94473263-TT-T c.5935del p.Thr1979Glnfs*13 Frameshift 43/50 - 3
1-94473263-T-C c.5932A>G p.Lys1978Glu Missense 43/50 - 3
1-94473266-C-T c.5929G>A p.Gly1977Ser Missense 43/50 - 12
1-94473271-C-T c.5924G>A p.Gly1975Asp Missense 43/50 - 1
1-94473272-C-G c.5923G>C p.Gly1975Arg Missense 43/50 - 4
1-94473277-AC-TA c.5917_5918delinsTA p.Val1973* Nonsense 43/50 - 1
1-94473278-AC-A c.5917del p.Val1973* Frameshift 43/50 - 15
1-94473281-C-T c.5914G>A p.Gly1972Arg Missense 43/50 - 3
1-94473283-A-C c.5912T>G p.Leu1971Arg Missense 43/50 - 1
1-94473287-G-A c.5908C>T p.Leu1970Phe Missense 43/50 - 6
1-94473298-CT-C c.5899-2del - IntronicDeletion - 42/49 2
1-94473298-CTA-C c.5899-3_5899-2del - IntronicDeletion - 42/49 1
1-94473299-A-C c.5899-3T>G - IntronicSNV - 42/49 1
1-94473788-CC-C c.5898+5del - IntronicDeletion - 42/49 2
1-94473789-A-G c.5898+2T>C - IntronicSNV - 42/49 2
1-94473790-C-T c.5898+1G>A - IntronicSNV - 42/49 3
1-94473791-C-T c.5898G>A p.Glu1966Glu Synonymous 42/50 - 1
1-94473797-CA-C c.5892del p.Gly1965Glufs*9 Frameshift 42/50 - 2
1-94473802-G-A c.5887C>T p.Arg1963Cys Missense 42/50 - 1
1-94473806-TC-AC c.5883delinsT p.Gly1961Gly Missense 42/50 - 1
1-94473807-CC-CA c.5881delinsT p.Gly1961* Missense 42/50 - 2
1-94473807-C-T c.5882G>A p.Gly1961Glu Missense 42/50 - 146
1-94473807-C-G c.5882G>C p.Gly1961Ala Missense 42/50 - 1
1-94473808-C-T c.5881G>A p.Gly1961Arg Missense 42/50 - 5
1-94473845-T-C c.5844A>G p.Pro1948Pro Synonymous 42/50 - 7
1-94473846-G-A c.5843C>T p.Pro1948Leu Missense 42/50 - 7
1-94473856-G-T c.5836-3C>A - IntronicSNV - 41/49 3
1-94473864-C-T c.5836-11G>A - IntronicSNV - 41/49 1
1-94474020-G-A c.5836-167C>T - IntronicSNV - 41/49 1
1-94474323-A-G c.5819T>C p.Leu1940Pro Missense 41/50 - 6
1-94474328-T-C c.5814A>G p.Leu1938Leu Synonymous 41/50 - 9
1-94474349-AC-AG c.5792delinsC p.Gly1931Ala Missense 41/50 - 1
1-94474364-TTT-T c.5778_5779del p.Arg1927Asnfs*7 Frameshift 41/50 - 1
1-94474369-T-C c.5773A>G p.Arg1925Gly Missense 41/50 - 1
1-94474381-C-T c.5761G>A p.Val1921Met Missense 41/50 - 4
1-94474420-C-A c.5722G>T p.Glu1908* Nonsense 41/50 - 1
1-94474452-T-G c.5715-25A>C - IntronicSNV - 40/49 1
1-94476351-C-T c.5714+5G>A - IntronicSNV - 40/49 34
1-94476355-C-G c.5714+1G>C - IntronicSNV - 40/49 1
1-94476358-T-A c.5712A>T p.Gln1904His Missense 40/50 - 1
1-94476377-C-T c.5693G>A p.Arg1898His Missense 40/50 - 5
1-94476383-A-T c.5687T>A p.Val1896Asp Missense 40/50 - 1
1-94476385-CCA-C c.5684_5685del p.Leu1895Argfs*16 Frameshift 40/50 - 1
1-94476388-C-G c.5682G>C p.Leu1894Leu Synonymous 40/50 - 11
1-94476417-C-T c.5653G>A p.Glu1885Lys Missense 40/50 - 1
1-94476424-C-T c.5646G>A p.Met1882Ile Missense 40/50 - 6
1-94476425-A-G c.5645T>C p.Met1882Thr Missense 40/50 - 1
1-94476426-T-C c.5644A>G p.Met1882Val Missense 40/50 - 1
1-94476428-G-A c.5642C>T p.Ala1881Val Missense 40/50 - 4
1-94476430-A-T c.5640T>A p.Phe1880Leu Missense 40/50 - 1
1-94476449-A-G c.5621T>C p.Leu1874Pro Missense 40/50 - 1
1-94476464-G-A c.5606C>T p.Pro1869Leu Missense 40/50 - 1
1-94476467-T-A c.5603A>T p.Asn1868Ile Missense 40/50 - 35
1-94476477-G-A c.5593C>T p.His1865Tyr Missense 40/50 - 1
1-94476484-A-AGA c.5586_5587insCT p.Glu1863Leufs*13 SpliceAcceptorInsertion 40/50 - 2
1-94476486-C-T c.5585-1G>A - IntronicSNV - 39/49 1
1-94476812-A-G c.5584+6T>C - IntronicSNV - 39/49 1
1-94476814-C-A c.5584+4G>T - IntronicSNV - 39/49 1
1-94476814-C-T c.5584+4G>A - IntronicSNV - 39/49 1
1-94476814-C-G c.5584+4G>C - IntronicSNV - 39/49 1
1-94476824-G-A c.5578C>T p.Arg1860Trp Missense 39/50 - 1
1-94476830-A-T c.5572T>A p.Tyr1858Asn Missense 39/50 - 1
1-94476853-A-G c.5549T>C p.Leu1850Pro Missense 39/50 - 2
1-94476865-A-G c.5537T>C p.Ile1846Thr Missense 39/50 - 5
1-94476871-C-T c.5531G>A p.Gly1844Asp Missense 39/50 - 1
1-94476872-C-A c.5530G>T p.Gly1844Cys Missense 39/50 - 2
1-94476875-G-A c.5527C>T p.Arg1843Trp Missense 39/50 - 1
1-94476890-G-C c.5512C>G p.His1838Asp Missense 39/50 - 2
1-94476890-G-T c.5512C>A p.His1838Asn Missense 39/50 - 2
1-94476915-C-A c.5487G>T p.Leu1829Leu Synonymous 39/50 - 1
1-94476915-C-G c.5487G>C p.Leu1829Leu Synonymous 39/50 - 1
1-94476915-C-T c.5487G>A p.Leu1829Leu Synonymous 39/50 - 1
1-94476917-G-A c.5485C>T p.Leu1829Leu Synonymous 39/50 - 1
1-94476939-CGT-GAC c.5461_5463delinsGTC p.Thr1821Val Missense 39/50 - 1
1-94476942-C-A c.5461-1G>T - IntronicSNV - 38/49 1
1-94476951-A-G c.5461-10T>C - IntronicSNV - 38/49 32
1-94476992-CT-C c.5461-51del - IntronicDeletion - 38/49 1
1-94478330-G-T c.5461-1389C>A - IntronicSNV - 38/49 1
1-94478595-T-C c.5460+1504A>G - IntronicSNV - 38/49 1
1-94480037-C-T c.5460+62G>A - IntronicSNV - 38/49 1
1-94480094-C-T c.5460+5G>A - IntronicSNV - 38/49 1
1-94480098-C-T c.5460+1G>A - IntronicSNV - 38/49 1
1-94480099-C-T c.5460G>A p.Arg1820Arg Synonymous 38/50 - 1
1-94480112-A-G c.5447T>C p.Phe1816Ser Missense 38/50 - 1
1-94480142-C-T c.5417G>A p.Ser1806Asn Missense 38/50 - 1
1-94480146-T-C c.5413A>G p.Asn1805Asp Missense 38/50 - 3
1-94480164-T-C c.5395A>G p.Asn1799Asp Missense 38/50 - 4
1-94480168-A-G c.5391T>C p.Cys1797Cys Synonymous 38/50 - 1
1-94480178-G-T c.5381C>A p.Ala1794Asp Missense 38/50 - 5
1-94480179-C-G c.5380G>C p.Ala1794Pro Missense 38/50 - 1
1-94480208-A-G c.5351T>C p.Leu1784Pro Missense 38/50 - 2
1-94480222-G-T c.5337C>A p.Tyr1779* Nonsense 38/50 - 2
1-94480227-T-A c.5332A>T p.Met1778Leu Missense 38/50 - 1
1-94480230-T-C c.5329A>G p.Met1777Val Missense 38/50 - 1
1-94480235-A-T c.5324T>A p.Ile1775Asn Missense 38/50 - 1
1-94480241-G-T c.5318C>A p.Ala1773Glu Missense 38/50 - 1
1-94480241-G-A c.5318C>T p.Ala1773Val Missense 38/50 - 21
1-94480244-C-T c.5315G>A p.Trp1772* Nonsense 38/50 - 1
1-94480243-C-T c.5316G>A p.Trp1772* Nonsense 38/50 - 1
1-94480439-T-C c.5313-193A>G - IntronicSNV - 37/49 1
1-94481068-A-G c.5312+227T>C - IntronicSNV - 37/49 1
1-94481292-T-A c.5312+3A>T - IntronicSNV - 37/49 3
1-94481293-A-C c.5312+2T>G - IntronicSNV - 37/49 2
1-94481294-C-T c.5312+1G>A - IntronicSNV - 37/49 7
1-94481296-C-T c.5311G>A p.Gly1771Arg Missense 37/50 - 1
1-94481299-A-C c.5308T>G p.Tyr1770Asp Missense 37/50 - 2
1-94481317-C-T c.5290G>A p.Val1764Met Missense 37/50 - 1
1-94481319-A-G c.5288T>C p.Leu1763Pro Missense 37/50 - 1
1-94481319-AA-A c.5289del p.Val1764Trpfs*14 Frameshift 37/50 - 1
1-94481322-G-T c.5285C>A p.Ala1762Asp Missense 37/50 - 2
1-94481325-G-C c.5282C>G p.Pro1761Arg Missense 37/50 - 1
1-94481359-G-A c.5248C>T p.Gln1750* Nonsense 37/50 - 1
1-94481364-C-T c.5243G>A p.Gly1748Glu Missense 37/50 - 1
1-94481365-C-G c.5242G>C p.Gly1748Arg Missense 37/50 - 1
1-94481365-C-T c.5242G>A p.Gly1748Arg Missense 37/50 - 1
1-94481380-C-T c.5227G>A p.Val1743Met Missense 37/50 - 1
1-94481409-AT-TA c.5197_5198delinsTA p.Met1733* Nonsense 37/50 - 1
1-94481409-A-G c.5198T>C p.Met1733Thr Missense 37/50 - 1
1-94481409-CAT-C c.5197_5198del p.Met1733Glufs*53 SpliceAcceptorDeletion 37/50 - 1
1-94483524-C-T c.5196+1614G>A - IntronicSNV - 36/49 1
1-94483922-G-T c.5196+1216C>A - IntronicSNV - 36/49 5
1-94483922-G-A c.5196+1216C>T - IntronicSNV - 36/49 1
1-94483979-C-T c.5196+1159G>A - IntronicSNV - 36/49 2
1-94484001-C-T c.5196+1137G>A - IntronicSNV - 36/49 12
1-94484002-G-T c.5196+1136C>A - IntronicSNV - 36/49 2
1-94484061-TT-T c.5196+1078del - IntronicDeletion - 36/49 1
1-94484082-T-C c.5196+1056A>G - IntronicSNV - 36/49 7
1-94484123-T-C c.5196+1015A>G - IntronicSNV - 36/49 1
1-94484125-T-C c.5196+1013A>G - IntronicSNV - 36/49 2
1-94484239-G-A c.5196+899C>T - IntronicSNV - 36/49 2
1-94484367-C-T c.5196+771G>A - IntronicSNV - 36/49 1
1-94484903-C-T c.5196+235G>A - IntronicSNV - 36/49 1
1-94485132-CACTTAC-C c.5196+3_5196+8del - IntronicDeletion - 36/49 1
1-94485134-CTTAC-C c.5196+3_5196+6del - SpliceDonorDeletion - 36/49 1
1-94485135-TT-T c.5196+4del - IntronicDeletion - 36/49 1
1-94485136-A-G c.5196+2T>C - IntronicSNV - 36/49 1
1-94485137-C-T c.5196+1G>A - IntronicSNV - 36/49 11
1-94485145-C-T c.5189G>A p.Trp1730* Nonsense 36/50 - 1
1-94485148-A-G c.5186T>C p.Leu1729Pro Missense 36/50 - 2
1-94485157-G-GC c.5176_5177insG p.Thr1726Serfs*61 Frameshift 36/50 - 1
1-94485157-G-T c.5177C>A p.Thr1726Asn Missense 36/50 - 1
1-94485159-C-CC c.5175dup p.Thr1726Aspfs*61 Frameshift 36/50 - 2
1-94485162-C-A c.5172G>T p.Trp1724Cys Missense 36/50 - 2
1-94485165-G-C c.5169C>G p.Tyr1723* Nonsense 36/50 - 1
1-94485173-GTG-G c.5161_5162del p.Thr1721Hisfs*65 Frameshift 36/50 - 1
1-94485196-T-C c.5138A>G p.Gln1713Arg Missense 36/50 - 2
1-94485197-G-T c.5137C>A p.Gln1713Lys Missense 36/50 - 1
1-94485220-C-T c.5114G>A p.Arg1705Gln Missense 36/50 - 4
1-94485220-C-A c.5114G>T p.Arg1705Leu Missense 36/50 - 1
1-94485221-G-A c.5113C>T p.Arg1705Trp Missense 36/50 - 3
1-94485246-G-C c.5088C>G p.Ser1696Arg Missense 36/50 - 1
1-94485247-C-T c.5087G>A p.Ser1696Asn Missense 36/50 - 5
1-94485250-G-T c.5084C>A p.Ala1695Asp Missense 36/50 - 1
1-94485257-C-T c.5077G>A p.Val1693Ile Missense 36/50 - 1
1-94485269-A-G c.5065T>C p.Ser1689Pro Missense 36/50 - 3
1-94485276-TCAC-T c.5056_5058del p.Val1686del InFrameDeletion 36/50 - 1
1-94485278-C-T c.5056G>A p.Val1686Met Missense 36/50 - 5
1-94485279-CGCAGATGGCAACCAC-C c.5044_5058del p.Val1682_Val1686del InFrameDeletion 36/50 - 7
1-94485280-GCAG-G c.5053_5055del p.Cys1685del InFrameDeletion 36/50 - 1
1-94486507-A-G c.5018+289T>C - IntronicSNV - 35/49 1
1-94486587-G-T c.5018+209C>A - IntronicSNV - 35/49 1
1-94486788-T-C c.5018+8A>G - IntronicSNV - 35/49 2
1-94486791-C-T c.5018+5G>A - IntronicSNV - 35/49 2
1-94486794-A-G c.5018+2T>C - IntronicSNV - 35/49 8
1-94486836-GG-G c.4981del p.Leu1661* Frameshift 35/50 - 1
1-94486842-T-G c.4972A>C p.Ser1658Arg Missense 35/50 - 1
1-94486858-A-C c.4956T>G p.Tyr1652* Nonsense 35/50 - 2
1-94486858-A-G c.4956T>C p.Tyr1652Tyr Synonymous 35/50 - 1
1-94486888-G-C c.4926C>G p.Ser1642Arg Missense 35/50 - 7
1-94486889-C-A c.4925G>T p.Ser1642Ile Missense 35/50 - 1
1-94486895-C-T c.4919G>A p.Arg1640Gln Missense 35/50 - 14
1-94486896-G-A c.4918C>T p.Arg1640Trp Missense 35/50 - 21
1-94486922-A-G c.4892T>C p.Leu1631Pro Missense 35/50 - 2
1-94486939-A-T c.4875T>A p.His1625Gln Missense 35/50 - 1
1-94486941-G-A c.4873C>T p.His1625Tyr Missense 35/50 - 1
1-94486942-C-T c.4872G>A p.Trp1624* Nonsense 35/50 - 1
1-94486960-C-G c.4854G>C p.Trp1618Cys Missense 35/50 - 1
1-94487194-A-G c.4848+2T>C - IntronicSNV - 34/49 1
1-94487200-AA-A c.4845del p.Lys1616Argfs*46 Frameshift 34/50 - 1
1-94487207-C-T c.4837G>A p.Asp1613Asn Missense 34/50 - 2
1-94487251-G-T c.4793C>A p.Ala1598Asp Missense 34/50 - 20
1-94487251-G-C c.4793C>G p.Ala1598Gly Missense 34/50 - 1
1-94487269-C-T c.4775G>A p.Gly1592Asp Missense 34/50 - 1
1-94487287-ACA-A c.4774-17_4774-16del - IntronicDeletion - 33/49 1
1-94487354-G-A c.4773+48C>T - IntronicSNV - 33/49 2
1-94487399-T-C c.4773+3A>G - IntronicSNV - 33/49 9
1-94487401-C-A c.4773+1G>T - IntronicSNV - 33/49 4
1-94487401-C-T c.4773+1G>A - IntronicSNV - 33/49 3
1-94487402-C-G c.4773G>C p.Gly1591Gly Synonymous 33/50 - 2
1-94487404-C-T c.4771G>A p.Gly1591Arg Missense 33/50 - 4
1-94487413-T-A c.4762A>T p.Asn1588Tyr Missense 33/50 - 2
1-94487427-A-G c.4748T>C p.Leu1583Pro Missense 33/50 - 3
1-94487436-A-G c.4739T>C p.Leu1580Ser Missense 33/50 - 1
1-94487440-AA-A c.4739del p.Leu1580* Frameshift 33/50 - 2
1-94487443-CC-C c.4734del p.Leu1580* Frameshift 33/50 - 2
1-94487455-C-A c.4720G>T p.Glu1574* Nonsense 33/50 - 4
1-94487460-G-A c.4715C>T p.Thr1572Met Missense 33/50 - 1
1-94487475-G-A c.4700C>T p.Pro1567Leu Missense 33/50 - 1
1-94487479-G-A c.4696C>T p.Leu1566Phe Missense 33/50 - 1
1-94487490-A-G c.4685T>C p.Ile1562Thr Missense 33/50 - 5
1-94487505-T-C c.4670A>G p.Tyr1557Cys Missense 33/50 - 4
1-94487508-C-T c.4668-1G>A - IntronicSNV - 32/49 1
1-94488940-A-G c.4667+2T>C - IntronicSNV - 32/49 2
1-94488941-C-T c.4667+1G>A - IntronicSNV - 32/49 2
1-94488942-C-T c.4667G>A p.Arg1556Lys Missense 32/50 - 1
1-94488943-CT-C c.4666del p.Arg1556Glyfs*25 Frameshift 32/50 - 1
1-94488944-TCTG-T c.4663_4665del p.Gln1555del InFrameDeletion 32/50 - 1
1-94488948-T-C c.4661A>G p.Glu1554Gly Missense 32/50 - 1
1-94488970-T-A c.4639A>T p.Lys1547* Nonsense 32/50 - 3
1-94490509-C-A c.4634+1G>T - IntronicSNV - 31/49 1
1-94490510-C-T c.4634G>A p.Ser1545Asn Missense 31/50 - 2
1-94490522-A-G c.4622T>C p.Leu1541Pro Missense 31/50 - 1
1-94490533-C-T c.4611G>A p.Thr1537Thr Synonymous 31/50 - 1
1-94490534-G-A c.4610C>T p.Thr1537Met Missense 31/50 - 4
1-94490540-A-AA c.4604dup p.Thr1537Asnfs*18 Frameshift 31/50 - 1
1-94490550-C-T c.4594G>A p.Asp1532Asn Missense 31/50 - 8
1-94490558-T-C c.4586A>G p.Asn1529Ser Missense 31/50 - 1
1-94490566-C-A c.4578G>T p.Thr1526Thr Synonymous 31/50 - 1
1-94490566-C-G c.4578G>C p.Thr1526Thr Synonymous 31/50 - 1
1-94490566-C-T c.4578G>A p.Thr1526Thr Synonymous 31/50 - 1
1-94490567-G-A c.4577C>T p.Thr1526Met Missense 31/50 - 17
1-94490571-G-C c.4573C>G p.Leu1525Val Missense 31/50 - 1
1-94490573-T-C c.4571A>G p.Asp1524Gly Missense 31/50 - 1
1-94490585-TT-T c.4561del p.Ile1521Phefs*5 Frameshift 31/50 - 1
1-94490588-G-A c.4556C>T p.Thr1519Met Missense 31/50 - 1
1-94490589-GT-G c.4555del p.Thr1519Argfs*7 Frameshift 31/50 - 1
1-94490591-C-T c.4553G>A p.Ser1518Asn Missense 31/50 - 1
1-94490592-T-G c.4552A>C p.Ser1518Arg Missense 31/50 - 1
1-94490600-TGT-T c.4546_4547del p.Gln1516Alafs*38 Frameshift 31/50 - 2
1-94490606-T-C c.4540-2A>G - IntronicSNV - 30/49 3
1-94492640-G-T c.4540-2036C>A - IntronicSNV - 30/49 1
1-94492936-G-C c.4539+2065C>G - IntronicSNV - 30/49 1
1-94492937-G-A c.4539+2064C>T - IntronicSNV - 30/49 5
1-94492973-G-A c.4539+2028C>T - IntronicSNV - 30/49 13
1-94493000-C-A c.4539+2001G>T - IntronicSNV - 30/49 1
1-94493000-C-T c.4539+2001G>A - IntronicSNV - 30/49 13
1-94493030-A-G c.4539+1971T>C - IntronicSNV - 30/49 1
1-94493272-C-A c.4539+1729G>T - IntronicSNV - 30/49 3
1-94493833-G-C c.4539+1168C>G - IntronicSNV - 30/49 1
1-94493895-G-A c.4539+1106C>T - IntronicSNV - 30/49 2
1-94493901-T-C c.4539+1100A>G - IntronicSNV - 30/49 1
1-94494999-A-C c.4539+2T>G - IntronicSNV - 30/49 1
1-94495000-C-A c.4539+1G>T - IntronicSNV - 30/49 4
1-94495002-T-G c.4538A>C p.Gln1513Pro Missense 30/50 - 2
1-94495002-T-C c.4538A>G p.Gln1513Arg Missense 30/50 - 2
1-94495003-G-C c.4537C>G p.Gln1513Glu Missense 30/50 - 1
1-94495005-G-C c.4535C>G p.Pro1512Arg Missense 30/50 - 1
1-94495007-GGGG-G c.4535_4537del p.Pro1512del InFrameDeletion 30/50 - 1
1-94495008-G-C c.4532C>G p.Pro1511Arg Missense 30/50 - 1
1-94495009-G-GG c.4537dup p.Gln1513Profs*42 SpliceDonorInsertion 30/50 - 8
1-94495009-GG-G c.4537del p.Gln1513Argfs*13 Frameshift 30/50 - 3
1-94495034-G-A c.4506C>T p.Cys1502Cys Synonymous 30/50 - 3
1-94495034-G-T c.4506C>A p.Cys1502* Nonsense 30/50 - 4
1-94495036-A-G c.4504T>C p.Cys1502Arg Missense 30/50 - 1
1-94495036-A-C c.4504T>G p.Cys1502Gly Missense 30/50 - 1
1-94495071-C-T c.4469G>A p.Cys1490Tyr Missense 30/50 - 28
1-94495072-A-G c.4468T>C p.Cys1490Arg Missense 30/50 - 2
1-94495072-A-ATTTC c.4467_4468insGAAA p.Cys1490Glufs*66 Frameshift 30/50 - 1
1-94495073-C-A c.4467G>T p.Arg1489Ser Missense 30/50 - 1
1-94495077-C-T c.4463G>A p.Cys1488Tyr Missense 30/50 - 1
1-94495078-A-G c.4462T>C p.Cys1488Arg Missense 30/50 - 18
1-94495083-G-A c.4457C>T p.Pro1486Leu Missense 30/50 - 14
1-94495090-G-A c.4450C>T p.Pro1484Ser Missense 30/50 - 1
1-94495103-C-T c.4437G>A p.Trp1479* Nonsense 30/50 - 3
1-94495123-G-T c.4417C>A p.Leu1473Met Missense 30/50 - 1
1-94495135-T-C c.4405A>G p.Asn1469Asp Missense 30/50 - 1
1-94495157-C-T c.4383G>A p.Trp1461* Nonsense 30/50 - 3
1-94495157-C-G c.4383G>C p.Trp1461Cys Missense 30/50 - 1
1-94495177-A-G c.4363T>C p.Cys1455Arg Missense 30/50 - 5
1-94495186-C-A c.4354G>T p.Glu1452* Nonsense 30/50 - 1
1-94495915-T-C c.4352+69A>G - IntronicSNV - 29/49 1
1-94495923-C-T c.4352+61G>A - IntronicSNV - 29/49 2
1-94495930-T-A c.4352+54A>T - IntronicSNV - 29/49 1
1-94495930-T-C c.4352+54A>G - IntronicSNV - 29/49 2
1-94495952-T-C c.4352+32A>G - IntronicSNV - 29/49 1
1-94495980-T-G c.4352+4A>C - IntronicSNV - 29/49 1
1-94495983-C-T c.4352+1G>A - IntronicSNV - 29/49 5
1-94495990-C-T c.4346G>A p.Trp1449* Nonsense 29/50 - 1
1-94495996-T-A c.4340A>T p.Glu1447Val Missense 29/50 - 1
1-94496008-C-T c.4328G>A p.Arg1443His Missense 29/50 - 9
1-94496010-G-T c.4326C>A p.Asn1442Lys Missense 29/50 - 4
1-94496016-CAAA-C c.4318_4320del p.Phe1440del InFrameDeletion 29/50 - 1
1-94496017-A-G c.4319T>C p.Phe1440Ser Missense 29/50 - 5
1-94496018-A-C c.4318T>G p.Phe1440Val Missense 29/50 - 1
1-94496018-AA-A c.4320del p.Phe1440Leufs*6 Frameshift 29/50 - 2
1-94496029-T-A c.4307A>T p.Asn1436Ile Missense 29/50 - 2
1-94496039-C-T c.4297G>A p.Val1433Ile Missense 29/50 - 13
1-94496047-A-G c.4289T>C p.Leu1430Pro Missense 29/50 - 1
1-94496053-G-A c.4283C>T p.Thr1428Met Missense 29/50 - 7
1-94496080-A-G c.4256T>C p.Met1419Thr Missense 29/50 - 2
1-94496084-T-C c.4254-2A>G - IntronicSNV - 28/49 1
1-94496097-GA-G c.4254-15del - IntronicDeletion - 28/49 1
1-94496253-G-A c.4254-171C>T - IntronicSNV - 28/49 1
1-94496253-G-C c.4254-171C>G - IntronicSNV - 28/49 1
1-94496253-G-T c.4254-171C>A - IntronicSNV - 28/49 1
1-94496509-C-T c.4253+43G>A - IntronicSNV - 28/49 7
1-94496540-G-A c.4253+12C>T - IntronicSNV - 28/49 1
1-94496547-C-T c.4253+5G>A - IntronicSNV - 28/49 3
1-94496548-G-A c.4253+4C>T - IntronicSNV - 28/49 5
1-94496557-G-T c.4248C>A p.Phe1416Leu Missense 28/50 - 3
1-94496558-GAAG-G c.4249_4251del p.Phe1417del InFrameDeletion 28/50 - 2
1-94496571-G-A c.4234C>T p.Gln1412* Nonsense 28/50 - 21
1-94496582-C-A c.4223G>T p.Trp1408Leu Missense 28/50 - 2
1-94496583-A-G c.4222T>C p.Trp1408Arg Missense 28/50 - 12
1-94496588-T-C c.4217A>G p.His1406Arg Missense 28/50 - 2
1-94496589-G-A c.4216C>T p.His1406Tyr Missense 28/50 - 4
1-94496589-TG-T c.4216del p.His1406Thrfs*30 Frameshift 28/50 - 1
1-94496602-G-A c.4203C>T p.Pro1401Pro Synonymous 28/50 - 6
1-94496602-G-T c.4203C>A p.Pro1401Pro Synonymous 28/50 - 8
1-94496605-G-T c.4200C>A p.Tyr1400* Nonsense 28/50 - 3
1-94496610-C-A c.4195G>T p.Glu1399* Nonsense 28/50 - 1
1-94496610-C-T c.4195G>A p.Glu1399Lys Missense 28/50 - 1
1-94496615-AAAA-A c.4189_4191del p.Phe1397del InFrameDeletion 28/50 - 1
1-94496628-C-CG c.4176_4177insC p.Val1393Argfs*29 Frameshift 28/50 - 2
1-94496628-C-T c.4177G>A p.Val1393Ile Missense 28/50 - 1
1-94496636-A-G c.4169T>C p.Leu1390Pro Missense 28/50 - 2
1-94496665-C-T c.4140G>A p.Pro1380Pro Synonymous 28/50 - 1
1-94496665-C-G c.4140G>C p.Pro1380Pro Synonymous 28/50 - 1
1-94496665-C-A c.4140G>T p.Pro1380Pro Synonymous 28/50 - 1
1-94496666-G-A c.4139C>T p.Pro1380Leu Missense 28/50 - 47
1-94496667-G-A c.4138C>T p.Pro1380Ser Missense 28/50 - 1
1-94497333-C-T c.4128+1G>A - IntronicSNV - 27/49 2
1-94497333-C-A c.4128+1G>T - IntronicSNV - 27/49 1
1-94497360-G-A c.4102C>T p.Arg1368Cys Missense 27/50 - 1
1-94497392-G-A c.4070C>T p.Ala1357Val Missense 27/50 - 2
1-94497392-G-T c.4070C>A p.Ala1357Glu Missense 27/50 - 1
1-94497393-C-T c.4069G>A p.Ala1357Thr Missense 27/50 - 2
1-94497427-TGT-T c.4036_4037del p.Thr1346Glyfs*75 Frameshift 27/50 - 4
1-94497461-GGG-G c.4003_4004del p.Pro1335Argfs*86 Frameshift 27/50 - 2
1-94497474-C-A c.3988G>T p.Glu1330* Nonsense 27/50 - 3
1-94497477-GGGTG-G c.3984_3987del p.His1328Glnfs*60 Frameshift 27/50 - 1
1-94497495-CC-C c.3970del p.Ala1324Argfs*65 Frameshift 27/50 - 1
1-94497519-G-A c.3943C>T p.Gln1315* Nonsense 27/50 - 2
1-94497563-C-T c.3899G>A p.Arg1300Gln Missense 27/50 - 13
1-94497564-G-A c.3898C>T p.Arg1300* Nonsense 27/50 - 9
1-94497588-G-A c.3874C>T p.Gln1292* Nonsense 27/50 - 3
1-94497591-G-A c.3871C>T p.Gln1291* Nonsense 27/50 - 1
1-94497663-ATTTTTTTTTT-A c.3863-73_3863-64del - IntronicDeletion - 26/49 1
1-94502293-T-C c.3862+3A>G - IntronicSNV - 26/49 1
1-94502295-C-T c.3862+1G>A - IntronicSNV - 26/49 2
1-94502312-CT-C c.3846del p.Gly1283Aspfs*106 Frameshift 26/50 - 3
1-94502318-CAGAATC-C c.3840_3845del p.Asp1281_Ser1282del InFrameDeletion 26/50 - 1
1-94502327-CGT-TGT c.3831delinsA p.Thr1277Thr Missense 26/50 - 2
1-94502328-G-A c.3830C>T p.Thr1277Met Missense 26/50 - 2
1-94502333-C-G c.3825G>C p.Lys1275Asn Missense 26/50 - 1
1-94502346-T-C c.3814-2A>G - IntronicSNV - 25/49 1
1-94502701-C-T c.3813G>A p.Glu1271Glu Synonymous 25/50 - 1
1-94502701-C-A c.3813G>T p.Glu1271Asp Missense 25/50 - 2
1-94502701-C-G c.3813G>C p.Glu1271Asp Missense 25/50 - 2
1-94502702-T-C c.3812A>G p.Glu1271Gly Missense 25/50 - 3
1-94502703-C-G c.3811G>C p.Glu1271Gln Missense 25/50 - 1
1-94502706-C-A c.3808G>T p.Glu1270* Nonsense 25/50 - 2
1-94502755-C-T c.3759G>A p.Thr1253Thr Synonymous 25/50 - 2
1-94502755-C-A c.3759G>T p.Thr1253Thr Synonymous 25/50 - 2
1-94502755-C-G c.3759G>C p.Thr1253Thr Synonymous 25/50 - 2
1-94502756-G-A c.3758C>T p.Thr1253Met Missense 25/50 - 10
1-94502760-C-A c.3754G>T p.Glu1252* Nonsense 25/50 - 2
1-94502780-C-T c.3734G>A p.Ser1245Asn Missense 25/50 - 1
1-94502787-A-G c.3727T>C p.Tyr1243His Missense 25/50 - 1
1-94502831-T-C c.3683A>G p.Glu1228Gly Missense 25/50 - 1
1-94502859-C-G c.3655G>C p.Ala1219Pro Missense 25/50 - 1
1-94502880-C-A c.3634G>T p.Val1212Phe Missense 25/50 - 1
1-94502904-C-T c.3610G>A p.Asp1204Asn Missense 25/50 - 1
1-94502906-C-T c.3608G>A p.Gly1203Glu Missense 25/50 - 1
1-94504545-C-A c.3607+1054G>T - IntronicSNV - 24/49 1
1-94504545-C-T c.3607+1054G>A - IntronicSNV - 24/49 1
1-94505596-T-A c.3607+3A>T - IntronicSNV - 24/49 2
1-94505599-C-A c.3607G>T p.Gly1203Trp Missense 24/50 - 1
1-94505599-C-T c.3607G>A p.Gly1203Arg Missense 24/50 - 2
1-94505604-A-C c.3602T>G p.Leu1201Arg Missense 24/50 - 18
1-94505611-G-A c.3595C>T p.Gln1199* Nonsense 24/50 - 1
1-94505652-GG-G c.3555del p.Thr1186Profs*10 Frameshift 24/50 - 1
1-94505652-GGAGAAACCCTTAGACG-G c.3540_3555del p.Ser1181Profs*10 Frameshift 24/50 - 1
1-94505659-C-A c.3547G>T p.Gly1183Cys Missense 24/50 - 2
1-94505663-TA-T c.3543del p.Lys1182Argfs*14 Frameshift 24/50 - 1
1-94505675-G-T c.3531C>A p.Cys1177* Nonsense 24/50 - 1
1-94505684-C-T c.3523-1G>A - IntronicSNV - 23/49 2
1-94505685-T-C c.3523-2A>G - IntronicSNV - 23/49 2
1-94506734-G-T c.3522+31C>A - IntronicSNV - 23/49 1
1-94506761-CC-C c.3522+5del - IntronicDeletion - 23/49 2
1-94506780-T-C c.3507A>G p.Gln1169Gln Synonymous 23/50 - 1
1-94506805-C-A c.3482G>T p.Arg1161Leu Missense 23/50 - 1
1-94506805-C-T c.3482G>A p.Arg1161His Missense 23/50 - 1
1-94506806-G-T c.3481C>A p.Arg1161Ser Missense 23/50 - 2
1-94506817-A-C c.3470T>G p.Leu1157* Nonsense 23/50 - 3
1-94506838-GCAG-G c.3449_3451del p.Cys1150del InFrameDeletion 23/50 - 1
1-94506845-T-C c.3442A>G p.Lys1148Glu Missense 23/50 - 1
1-94506867-G-C c.3420C>G p.Cys1140Trp Missense 23/50 - 3
1-94506871-T-C c.3416A>G p.Tyr1139Cys Missense 23/50 - 1
1-94506874-A-G c.3413T>C p.Leu1138Pro Missense 23/50 - 2
1-94506874-A-T c.3413T>A p.Leu1138His Missense 23/50 - 2
1-94506878-T-C c.3409A>G p.Arg1137Gly Missense 23/50 - 1
1-94506880-C-A c.3407G>T p.Gly1136Val Missense 23/50 - 1
1-94506889-A-G c.3398T>C p.Ile1133Thr Missense 23/50 - 1
1-94506892-A-G c.3395T>C p.Ile1132Thr Missense 23/50 - 1
1-94506895-GG-G c.3393del p.Ile1132Serfs*16 Frameshift 23/50 - 1
1-94506896-C-CC c.3391dup p.Ala1131Glyfs*44 Frameshift 23/50 - 1
1-94506901-C-A c.3386G>T p.Arg1129Leu Missense 23/50 - 23
1-94506901-C-T c.3386G>A p.Arg1129His Missense 23/50 - 1
1-94506902-G-A c.3385C>T p.Arg1129Cys Missense 23/50 - 7
1-94506904-T-C c.3383A>G p.Asp1128Gly Missense 23/50 - 1
1-94506907-C-T c.3380G>A p.Gly1127Glu Missense 23/50 - 1
1-94506910-A-G c.3377T>C p.Leu1126Pro Missense 23/50 - 1
1-94506917-C-A c.3370G>T p.Asp1124Tyr Missense 23/50 - 1
1-94506923-C-A c.3364G>T p.Glu1122* Nonsense 23/50 - 1
1-94506923-C-T c.3364G>A p.Glu1122Lys Missense 23/50 - 11
1-94506935-G-C c.3352C>G p.His1118Asp Missense 23/50 - 1
1-94506937-G-A c.3350C>T p.Thr1117Ile Missense 23/50 - 2
1-94506938-T-C c.3349A>G p.Thr1117Ala Missense 23/50 - 2
1-94506945-TG-T c.3342del p.Met1115Cysfs*33 Frameshift 23/50 - 1
1-94506949-GATG-G c.3342_3344del p.Ile1114del InFrameDeletion 23/50 - 2
1-94506952-G-T c.3335C>A p.Thr1112Asn Missense 23/50 - 1
1-94506959-C-T c.3329-1G>A - IntronicSNV - 22/49 1
1-94506960-T-A c.3329-2A>T - IntronicSNV - 22/49 1
1-94506960-T-C c.3329-2A>G - IntronicSNV - 22/49 1
1-94507682-AGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGG-A c.3328+577_3328+635del - Unclassified - 22/49 1
1-94508316-C-G c.3328+1G>C - IntronicSNV - 22/49 1
1-94508316-C-T c.3328+1G>A - IntronicSNV - 22/49 1
1-94508322-C-T c.3323G>A p.Arg1108His Missense 22/50 - 12
1-94508322-C-A c.3323G>T p.Arg1108Leu Missense 22/50 - 2
1-94508323-G-A c.3322C>T p.Arg1108Cys Missense 22/50 - 37
1-94508334-A-G c.3311T>C p.Leu1104Pro Missense 22/50 - 1
1-94508340-T-A c.3305A>T p.Asp1102Val Missense 22/50 - 2
1-94508341-C-A c.3304G>T p.Asp1102Tyr Missense 22/50 - 1
1-94508346-A-T c.3299T>A p.Ile1100Asn Missense 22/50 - 2
1-94508350-A-G c.3295T>C p.Ser1099Pro Missense 22/50 - 3
1-94508353-G-A c.3292C>T p.Arg1098Cys Missense 22/50 - 6
1-94508354-TCT-TGT c.3290delinsC p.Arg1097Thr Missense 22/50 - 1
1-94508356-T-A c.3289A>T p.Arg1097* Nonsense 22/50 - 2
1-94508358-G-A c.3287C>T p.Ser1096Leu Missense 22/50 - 1
1-94508364-G-C c.3281C>G p.Pro1094Arg Missense 22/50 - 1
1-94508366-G-T c.3279C>A p.Asp1093Glu Missense 22/50 - 3
1-94508367-T-C c.3278A>G p.Asp1093Gly Missense 22/50 - 1
1-94508373-C-T c.3272G>A p.Gly1091Glu Missense 22/50 - 1
1-94508377-A-AAT c.3267_3268insAT p.Ser1090Ilefs*17 Frameshift 22/50 - 1
1-94508381-G-T c.3264C>A p.Pro1088Pro Synonymous 22/50 - 1
1-94508381-G-A c.3264C>T p.Pro1088Pro Synonymous 22/50 - 1
1-94508381-G-C c.3264C>G p.Pro1088Pro Synonymous 22/50 - 1
1-94508384-T-G c.3261A>C p.Glu1087Asp Missense 22/50 - 7
1-94508386-C-T c.3259G>A p.Glu1087Lys Missense 22/50 - 17
1-94508386-C-A c.3259G>T p.Glu1087* Nonsense 22/50 - 2
1-94508412-C-T c.3233G>A p.Gly1078Glu Missense 22/50 - 2
1-94508432-CG-GT c.3212_3213delinsAC p.Ser1071Tyr Missense 22/50 - 1
1-94508433-G-A c.3212C>T p.Ser1071Leu Missense 22/50 - 2
1-94508433-GA-GT c.3211delinsA p.Ser1071Thr Missense 22/50 - 1
1-94508433-G-GTT c.3211_3212insAA p.Ser1071* Nonsense 22/50 - 1
1-94508434-A-AAC c.3210_3211insGT p.Ser1071Valfs*14 Frameshift 22/50 - 2
1-94508434-A-G c.3211T>C p.Ser1071Pro Missense 22/50 - 1
1-94508436-A-AAC c.3208_3209insGT p.Leu1070Argfs*15 Frameshift 22/50 - 1
1-94508440-T-C c.3205A>G p.Lys1069Glu Missense 22/50 - 1
1-94508448-A-C c.3197T>G p.Met1066Arg Missense 22/50 - 2
1-94508455-C-A c.3191-1G>T - IntronicSNV - 21/49 3
1-94508456-T-C c.3191-2A>G - IntronicSNV - 21/49 1
1-94508892-C-G c.3190G>C p.Gly1064Arg Missense 21/50 - 1
1-94508895-A-G c.3187T>C p.Ser1063Pro Missense 21/50 - 1
1-94508919-G-A c.3163C>T p.Arg1055Trp Missense 21/50 - 1
1-94508934-C-T c.3148G>A p.Gly1050Ser Missense 21/50 - 2
1-94508940-C-CA c.3141_3142insT p.Asp1048* Nonsense 21/50 - 1
1-94508969-G-A c.3113C>T p.Ala1038Val Missense 21/50 - 74
1-94508976-C-T c.3106G>A p.Glu1036Lys Missense 21/50 - 2
1-94508983-C-CCTGC c.3099_3100insCAGG p.Ser1034Glnfs*25 Frameshift 21/50 - 1
1-94509001-A-C c.3081T>G p.Tyr1027* Nonsense 21/50 - 3
1-94509018-C-T c.3064G>A p.Glu1022Lys Missense 21/50 - 3
1-94509026-G-A c.3056C>T p.Thr1019Met Missense 21/50 - 17
1-94509027-T-C c.3055A>G p.Thr1019Ala Missense 21/50 - 1
1-94509799-G-A c.3050+370C>T - IntronicSNV - 20/49 2
1-94510164-C-T c.3050+5G>A - IntronicSNV - 20/49 2
1-94510168-C-G c.3050+1G>C - IntronicSNV - 20/49 1
1-94510168-C-T c.3050+1G>A - IntronicSNV - 20/49 1
1-94510176-A-T c.3043T>A p.Phe1015Ile Missense 20/50 - 1
1-94510176-A-G c.3043T>C p.Phe1015Leu Missense 20/50 - 2
1-94510178-A-C c.3041T>G p.Leu1014Arg Missense 20/50 - 2
1-94510180-G-GG c.3040dup p.Leu1014Profs*9 Frameshift 20/50 - 1
1-94510202-C-A c.3017G>T p.Gly1006Val Missense 20/50 - 1
1-94510212-G-A c.3007C>T p.Gln1003* Nonsense 20/50 - 5
1-94510247-C-A c.2972G>T p.Gly991Val Missense 20/50 - 1
1-94510248-C-G c.2971G>C p.Gly991Arg Missense 20/50 - 11
1-94510253-A-G c.2966T>C p.Val989Ala Missense 20/50 - 13
1-94510255-G-A c.2964C>T p.Leu988Leu Synonymous 20/50 - 3
1-94510272-T-C c.2947A>G p.Thr983Ala Missense 20/50 - 6
1-94510277-G-A c.2942C>T p.Pro981Leu Missense 20/50 - 1
1-94510286-C-T c.2933G>A p.Gly978Asp Missense 20/50 - 1
1-94510287-C-T c.2932G>A p.Gly978Ser Missense 20/50 - 1
1-94510288-C-T c.2931G>A p.Thr977Thr Synonymous 20/50 - 1
1-94510290-T-G c.2929A>C p.Thr977Pro Missense 20/50 - 2
1-94510294-G-C c.2925C>G p.Ile975Met Missense 20/50 - 3
1-94510299-A-ATTTG c.2919_2920insCAAA p.Ser974Glnfs*23 SpliceAcceptorInsertion 20/50 - 1
1-94510301-CC-C c.2919del - Frameshift - 19/49 1
1-94510673-G-T c.2919-373C>A - IntronicSNV - 19/49 3
1-94510673-G-A c.2919-373C>T - IntronicSNV - 19/49 3
1-94511126-A-T c.2919-826T>A - IntronicSNV - 19/49 1
1-94511227-A-T c.2919-927T>A - IntronicSNV - 19/49 1
1-94511533-G-A c.2918+942C>T - IntronicSNV - 19/49 2
1-94512478-G-T c.2915C>A p.Thr972Asn Missense 19/50 - 8
1-94512481-G-T c.2912C>A p.Thr971Asn Missense 19/50 - 4
1-94512482-T-C c.2911A>G p.Thr971Ala Missense 19/50 - 1
1-94512485-T-G c.2908A>C p.Thr970Pro Missense 19/50 - 1
1-94512486-TT-TG c.2906delinsC p.Lys969Thr Missense 19/50 - 5
1-94512487-T-C c.2906A>G p.Lys969Arg Missense 19/50 - 1
1-94512493-G-A c.2900C>T p.Ala967Val Missense 19/50 - 1
1-94512493-G-C c.2900C>G p.Ala967Gly Missense 19/50 - 1
1-94512499-T-C c.2894A>G p.Asn965Ser Missense 19/50 - 45
1-94512500-T-C c.2893A>G p.Asn965Asp Missense 19/50 - 1
1-94512500-T-A c.2893A>T p.Asn965Tyr Missense 19/50 - 2
1-94512507-CC-C c.2888del p.Gly963Alafs*14 Frameshift 19/50 - 4
1-94512514-TG-T c.2879del p.Ala960Aspfs*17 Frameshift 19/50 - 1
1-94512517-G-A c.2876C>T p.Thr959Ile Missense 19/50 - 3
1-94512518-T-C c.2875A>G p.Thr959Ala Missense 19/50 - 2
1-94512532-T-G c.2861A>C p.Tyr954Ser Missense 19/50 - 2
1-94512541-A-G c.2852T>C p.Ile951Thr Missense 19/50 - 2
1-94512547-A-C c.2846T>G p.Leu949Arg Missense 19/50 - 1
1-94512551-G-A c.2842C>T p.Arg948Cys Missense 19/50 - 1
1-94512561-T-C c.2832A>G p.Pro944Pro Synonymous 19/50 - 1
1-94512565-C-T c.2828G>A p.Arg943Gln Missense 19/50 - 12
1-94512566-G-A c.2827C>T p.Arg943Trp Missense 19/50 - 1
1-94512566-G-C c.2827C>G p.Arg943Gly Missense 19/50 - 2
1-94512571-CA-AC c.2821_2822delinsGT p.Cys941Val Missense 19/50 - 1
1-94512574-G-C c.2819C>G p.Pro940Arg Missense 19/50 - 2
1-94512588-T-TT c.2807dup p.Ile937Aspfs*3 Frameshift 19/50 - 1
1-94512589-A-G c.2804T>C p.Val935Ala Missense 19/50 - 5
1-94512602-C-T c.2791G>A p.Val931Met Missense 19/50 - 12
1-94512625-TGGATGCTCACGTT-T c.2757_2769del p.Arg920Glyfs*8 Frameshift 19/50 - 1
1-94512637-T-C c.2756A>G p.Glu919Gly Missense 19/50 - 1
1-94514424-C-T c.2743G>A p.Asp915Asn Missense 18/50 - 1
1-94514426-TG-GC c.2740_2741delinsGC p.His914Ala Missense 18/50 - 1
1-94514448-G-A c.2719C>T p.Pro907Ser Missense 18/50 - 1
1-94514455-CC-C c.2713del p.Glu905Argfs*27 Frameshift 18/50 - 1
1-94514465-G-C c.2702C>G p.Thr901Arg Missense 18/50 - 1
1-94514466-T-C c.2701A>G p.Thr901Ala Missense 18/50 - 4
1-94514475-C-A c.2692G>T p.Glu898* Nonsense 18/50 - 1
1-94514477-G-A c.2690C>T p.Thr897Ile Missense 18/50 - 5
1-94514481-T-C c.2686A>G p.Lys896Glu Missense 18/50 - 1
1-94514521-A-C c.2654-8T>G - IntronicSNV - 17/49 1
1-94517132-G-A c.2653+57C>T - IntronicSNV - 17/49 1
1-94517202-C-A c.2640G>T p.Trp880Cys Missense 17/50 - 1
1-94517202-C-G c.2640G>C p.Trp880Cys Missense 17/50 - 1
1-94517209-G-T c.2633C>A p.Ser878* Nonsense 17/50 - 1
1-94517216-G-A c.2626C>T p.Gln876* Nonsense 17/50 - 2
1-94517225-A-G c.2617T>C p.Phe873Leu Missense 17/50 - 2
1-94517226-AG-A c.2616del p.Leu874Phefs*27 Frameshift 17/50 - 1
1-94517226-G-C c.2616C>G p.Tyr872* Nonsense 17/50 - 1
1-94517234-G-A c.2608C>T p.Pro870Ser Missense 17/50 - 1
1-94517240-G-C c.2602C>G p.Pro868Ala Missense 17/50 - 1
1-94517248-TA-CT c.2593_2594delinsAG p.Tyr865Ser Missense 17/50 - 1
1-94517249-A-AA c.2593dup p.Tyr865Leufs*20 Frameshift 17/50 - 1
1-94517254-C-T c.2588G>A p.Gly863Glu Missense 17/50 - 1
1-94517254-C-G c.2588G>C p.Gly863Ala Missense 17/50 - 82
1-94520686-G-T c.2568C>A p.Tyr856* Nonsense 16/50 - 2
1-94520686-GGTACCAAG-G c.2565_2572del p.Trp855* Frameshift 16/50 - 1
1-94520690-C-T c.2564G>A p.Trp855* Nonsense 16/50 - 6
1-94520694-C-T c.2560G>A p.Ala854Thr Missense 16/50 - 3
1-94520697-G-A c.2557C>T p.Leu853Phe Missense 16/50 - 1
1-94520702-C-T c.2552G>A p.Gly851Asp Missense 16/50 - 5
1-94520704-ATA-AAG c.2548_2549delinsCT p.Tyr850Leu Missense 16/50 - 1
1-94520705-T-C c.2549A>G p.Tyr850Cys Missense 16/50 - 4
1-94520708-A-G c.2546T>C p.Val849Ala Missense 16/50 - 5
1-94520711-G-T c.2543C>A p.Ala848Asp Missense 16/50 - 1
1-94520732-T-G c.2522A>C p.Gln841Pro Missense 16/50 - 1
1-94520735-A-C c.2519T>G p.Met840Arg Missense 16/50 - 1
1-94520744-A-G c.2510T>C p.Leu837Pro Missense 16/50 - 1
1-94520768-G-A c.2486C>T p.Thr829Met Missense 16/50 - 1
1-94520777-GTT-G c.2476_2477del p.Asn826Glnfs*20 Frameshift 16/50 - 1
1-94520791-C-T c.2463G>A p.Trp821* Nonsense 16/50 - 2
1-94520793-A-T c.2461T>A p.Trp821Arg Missense 16/50 - 10
1-94520795-T-C c.2459A>G p.Gln820Arg Missense 16/50 - 1
1-94520801-C-T c.2453G>A p.Gly818Glu Missense 16/50 - 4
1-94520811-G-A c.2443C>T p.Gln815* Nonsense 16/50 - 1
1-94520830-G-C c.2424C>G p.Tyr808* Nonsense 16/50 - 4
1-94520837-G-A c.2417C>T p.Thr806Ile Missense 16/50 - 1
1-94520847-CC-C c.2408del p.Gly803Aspfs*40 Frameshift 16/50 - 1
1-94520853-C-T c.2401G>A p.Ala801Thr Missense 16/50 - 2
1-94520855-CACCGGAGACAGTAAGC-C c.2385_2400del p.Ser795Argfs*43 Frameshift 16/50 - 1
1-94520869-G-C c.2385C>G p.Ser795Arg Missense 16/50 - 2
1-94520869-G-A c.2385C>T p.Ser795Ser Synonymous 16/50 - 1
1-94522152-C-G c.2382+5G>C - IntronicSNV - 15/49 2
1-94522156-C-T c.2382+1G>A - IntronicSNV - 15/49 4
1-94522186-G-A c.2353C>T p.Arg785Cys Missense 15/50 - 1
1-94522194-C-T c.2345G>A p.Trp782* Nonsense 15/50 - 5
1-94522221-T-A c.2318A>T p.Tyr773Phe Missense 15/50 - 1
1-94522239-A-T c.2300T>A p.Val767Asp Missense 15/50 - 12
1-94522242-C-A c.2297G>T p.Gly766Val Missense 15/50 - 1
1-94522244-A-T c.2295T>A p.Ser765Arg Missense 15/50 - 1
1-94522244-A-C c.2295T>G p.Ser765Arg Missense 15/50 - 1
1-94522246-T-G c.2293A>C p.Ser765Arg Missense 15/50 - 1
1-94522248-C-T c.2291G>A p.Cys764Tyr Missense 15/50 - 1
1-94522254-G-T c.2285C>A p.Ala762Glu Missense 15/50 - 3
1-94522290-A-G c.2249T>C p.Leu750Pro Missense 15/50 - 1
1-94522296-C-T c.2243G>A p.Cys748Tyr Missense 15/50 - 1
1-94522300-AG-A c.2239del p.Leu747Cysfs*40 Frameshift 15/50 - 1
1-94522311-GGC-G c.2227_2228del p.Ala743Hisfs*22 Frameshift 15/50 - 1
1-94522336-G-A c.2203C>T p.Leu735Leu Synonymous 15/50 - 1
1-94522355-G-T c.2184C>A p.Ser728Arg Missense 15/50 - 1
1-94522386-C-T c.2161-8G>A - IntronicSNV - 14/49 1
1-94523113-G-A c.2161-735C>T - IntronicSNV - 14/49 1
1-94525509-T-C c.2160+584A>G - IntronicSNV - 14/49 4
1-94525631-T-G c.2160+462A>C - IntronicSNV - 14/49 1
1-94526091-A-C c.2160+2T>G - IntronicSNV - 14/49 1
1-94526092-C-G c.2160+1G>C - IntronicSNV - 14/49 4
1-94526092-C-A c.2160+1G>T - IntronicSNV - 14/49 3
1-94526154-C-T c.2099G>A p.Trp700* Nonsense 14/50 - 3
1-94526161-A-G c.2092T>C p.Cys698Arg Missense 14/50 - 1
1-94526165-A-C c.2088T>G p.Ile696Met Missense 14/50 - 1
1-94526184-C-A c.2069G>T p.Gly690Val Missense 14/50 - 1
1-94526184-C-T c.2069G>A p.Gly690Asp Missense 14/50 - 1
1-94526186-CC-C c.2069del p.Gly690Valfs*6 Frameshift 14/50 - 2
1-94526190-T-A c.2063A>T p.Asn688Ile Missense 14/50 - 1
1-94526196-A-G c.2057T>C p.Leu686Ser Missense 14/50 - 1
1-94526212-G-A c.2041C>T p.Arg681* Nonsense 14/50 - 20
1-94526219-C-A c.2034G>T p.Lys678Asn Missense 14/50 - 2
1-94526225-CCAAGACGATGCTC-C c.2019_2031del p.Ser673Argfs*6 Frameshift 14/50 - 1
1-94526230-C-T c.2023G>A p.Val675Ile Missense 14/50 - 3
1-94526246-C-G c.2007G>C p.Met669Ile Missense 14/50 - 1
1-94526246-TCAT-T c.2006_2008del p.Met669del InFrameDeletion 14/50 - 1
1-94526258-G-T c.1995C>A p.Tyr665* Nonsense 14/50 - 3
1-94526259-TA-AC c.1993_1994delinsGT p.Tyr665Val Missense 14/50 - 1
1-94526265-C-T c.1988G>A p.Trp663* Nonsense 14/50 - 6
1-94526270-C-CC c.1984dup p.Ala662Glyfs*104 Frameshift 14/50 - 1
1-94526276-C-T c.1977G>A p.Met659Ile Missense 14/50 - 1
1-94526289-A-C c.1964T>G p.Phe655Cys Missense 14/50 - 4
1-94526295-C-T c.1958G>A p.Arg653His Missense 14/50 - 1
1-94526296-G-A c.1957C>T p.Arg653Cys Missense 14/50 - 16
1-94526312-GA-AA c.1941delinsT p.Phe647Phe Nonsense 14/50 - 1
1-94526316-C-T c.1938-1G>A - IntronicSNV - 13/49 1
1-94526934-T-C c.1938-619A>G - IntronicSNV - 13/49 1
1-94527018-G-A c.1938-703C>T - IntronicSNV - 13/49 1
1-94527698-G-C c.1937+435C>G - IntronicSNV - 13/49 2
1-94528120-A-C c.1937+13T>G - IntronicSNV - 13/49 1
1-94528128-C-T c.1937+5G>A - IntronicSNV - 13/49 1
1-94528132-C-T c.1937+1G>A - IntronicSNV - 13/49 1
1-94528137-C-T c.1933G>A p.Asp645Asn Missense 13/50 - 6
1-94528137-C-A c.1933G>T p.Asp645Tyr Missense 13/50 - 1
1-94528138-G-A c.1932C>T p.Asp644Asp Synonymous 13/50 - 1
1-94528142-A-C c.1928T>G p.Val643Gly Missense 13/50 - 3
1-94528143-C-T c.1927G>A p.Val643Met Missense 13/50 - 7
1-94528146-A-T c.1924T>A p.Phe642Ile Missense 13/50 - 3
1-94528146-A-G c.1924T>C p.Phe642Leu Missense 13/50 - 2
1-94528147-G-T c.1923C>A p.Cys641* Nonsense 13/50 - 1
1-94528148-C-G c.1922G>C p.Cys641Ser Missense 13/50 - 1
1-94528149-A-G c.1921T>C p.Cys641Arg Missense 13/50 - 1
1-94528162-C-A c.1908G>T p.Gln636His Missense 13/50 - 4
1-94528164-G-T c.1906C>A p.Gln636Lys Missense 13/50 - 2
1-94528164-G-A c.1906C>T p.Gln636* Nonsense 13/50 - 10
1-94528167-G-T c.1903C>A p.Gln635Lys Missense 13/50 - 1
1-94528167-G-A c.1903C>T p.Gln635* Nonsense 13/50 - 3
1-94528190-T-G c.1880A>C p.Glu627Ala Missense 13/50 - 2
1-94528192-C-T c.1878G>A p.Ala626Ala Synonymous 13/50 - 1
1-94528192-CC-C c.1879del p.Glu627Argfs*22 Frameshift 13/50 - 1
1-94528202-T-C c.1868A>G p.Gln623Arg Missense 13/50 - 1
1-94528205-C-T c.1865G>A p.Ser622Asn Missense 13/50 - 1
1-94528209-T-C c.1861A>G p.Arg621Gly Missense 13/50 - 1
1-94528217-C-T c.1853G>A p.Gly618Glu Missense 13/50 - 1
1-94528218-C-T c.1852G>A p.Gly618Arg Missense 13/50 - 2
1-94528218-C-G c.1852G>C p.Gly618Arg Missense 13/50 - 2
1-94528218-C-A c.1852G>T p.Gly618Trp Missense 13/50 - 1
1-94528226-A-T c.1844T>A p.Val615Asp Missense 13/50 - 1
1-94528226-A-G c.1844T>C p.Val615Ala Missense 13/50 - 2
1-94528238-A-G c.1832T>C p.Leu611Pro Missense 13/50 - 1
1-94528246-A-T c.1824T>A p.Phe608Leu Missense 13/50 - 1
1-94528246-A-C c.1824T>G p.Phe608Leu Missense 13/50 - 1
1-94528248-A-T c.1822T>A p.Phe608Ile Missense 13/50 - 5
1-94528248-A-G c.1822T>C p.Phe608Leu Missense 13/50 - 1
1-94528251-C-T c.1819G>A p.Gly607Arg Missense 13/50 - 13
1-94528251-C-A c.1819G>T p.Gly607Trp Missense 13/50 - 2
1-94528251-C-G c.1819G>C p.Gly607Arg Missense 13/50 - 8
1-94528256-C-G c.1814G>C p.Trp605Ser Missense 13/50 - 1
1-94528265-C-T c.1805G>A p.Arg602Gln Missense 13/50 - 6
1-94528265-CG-AC c.1804_1805delinsGT p.Arg602Val Missense 13/50 - 1
1-94528266-G-A c.1804C>T p.Arg602Trp Missense 13/50 - 30
1-94528270-A-T c.1800T>A p.Asp600Glu Missense 13/50 - 3
1-94528270-A-C c.1800T>G p.Asp600Glu Missense 13/50 - 3
1-94528272-C-A c.1798G>T p.Asp600Tyr Missense 13/50 - 1
1-94528287-C-T c.1783G>A p.Ala595Thr Missense 13/50 - 1
1-94528304-C-T c.1766G>A p.Trp589* Nonsense 13/50 - 1
1-94528363-C-T c.1761-54G>A - IntronicSNV - 12/49 1
1-94528646-C-A c.1760+22G>T - IntronicSNV - 12/49 1
1-94528666-A-C c.1760+2T>G - IntronicSNV - 12/49 2
1-94528668-C-T c.1760G>A p.Arg587Lys Missense 12/50 - 1
1-94528671-T-C c.1757A>G p.Asp586Gly Missense 12/50 - 1
1-94528672-C-CA c.1755_1756insT p.Asp586* Nonsense 12/50 - 1
1-94528677-A-T c.1751T>A p.Ile584Asn Missense 12/50 - 1
1-94528679-C-G c.1749G>C p.Lys583Asn Missense 12/50 - 2
1-94528683-T-C c.1745A>G p.Asn582Ser Missense 12/50 - 1
1-94528700-CGTCTATGTCCATTCGGATCT-C c.1709_1728del p.Lys570Serfs*7 Frameshift 12/50 - 1
1-94528702-C-G c.1726G>C p.Asp576His Missense 12/50 - 4
1-94528713-C-G c.1715G>C p.Arg572Pro Missense 12/50 - 1
1-94528713-C-T c.1715G>A p.Arg572Gln Missense 12/50 - 3
1-94528714-G-A c.1714C>T p.Arg572* Nonsense 12/50 - 3
1-94528729-C-T c.1699G>A p.Val567Met Missense 12/50 - 1
1-94528751-C-G c.1677G>C p.Trp559Cys Missense 12/50 - 1
1-94528757-A-G c.1671T>C p.Tyr557Tyr Synonymous 12/50 - 1
1-94528769-GGAA-G c.1657_1659del p.Phe553del InFrameDeletion 12/50 - 1
1-94528772-T-A c.1656A>T p.Val552Val Synonymous 12/50 - 1
1-94528772-T-G c.1656A>C p.Val552Val Synonymous 12/50 - 1
1-94528772-T-C c.1656A>G p.Val552Val Synonymous 12/50 - 1
1-94528774-C-T c.1654G>A p.Val552Ile Missense 12/50 - 9
1-94528780-C-T c.1648G>A p.Gly550Arg Missense 12/50 - 7
1-94528785-C-T c.1643G>A p.Trp548* Nonsense 12/50 - 1
1-94528784-C-T c.1644G>A p.Trp548* Nonsense 12/50 - 1
1-94528806-A-G c.1622T>C p.Leu541Pro Missense 12/50 - 84
1-94528815-G-A c.1613C>T p.Ala538Val Missense 12/50 - 1
1-94528815-G-T c.1613C>A p.Ala538Asp Missense 12/50 - 2
1-94528818-C-T c.1610G>A p.Arg537His Missense 12/50 - 2
1-94528819-G-A c.1609C>T p.Arg537Cys Missense 12/50 - 4
1-94528836-T-C c.1592A>G p.Glu531Gly Missense 12/50 - 3
1-94528842-T-C c.1586A>G p.Asn529Ser Missense 12/50 - 1
1-94528847-G-A c.1581C>T p.Ser527Ser Synonymous 12/50 - 1
1-94528851-T-G c.1577A>C p.Glu526Ala Missense 12/50 - 1
1-94528857-T-G c.1571A>C p.Lys524Thr Missense 12/50 - 1
1-94528868-CC-C c.1561del p.Val521Serfs*47 Frameshift 12/50 - 4
1-94528871-G-T c.1557C>A p.Cys519* Nonsense 12/50 - 1
1-94528872-C-A c.1556G>T p.Cys519Phe Missense 12/50 - 1
1-94529895-C-T c.1555-1022G>A - IntronicSNV - 11/49 1
1-94533014-T-C c.1555-4141A>G - IntronicSNV - 11/49 1
1-94533014-T-G c.1555-4141A>C - IntronicSNV - 11/49 1
1-94533881-G-A c.1555-5008C>T - IntronicSNV - 11/49 1
1-94533990-A-T c.1555-5117T>A - IntronicSNV - 11/49 1
1-94534447-TCAAAGAGAACCATTGTAATGCCCTATGACAGCCAATGACAATAAAGCAAGGAAAGGGCT-T c.1555-5630_1555-5572del - Unclassified - 11/49 1
1-94538011-G-A c.1554+5235C>T - IntronicSNV - 11/49 3
1-94543163-A-G c.1554+83T>C - IntronicSNV - 11/49 1
1-94543245-C-G c.1554+1G>C - IntronicSNV - 11/49 2
1-94543246-C-T c.1554G>A p.Glu518Glu Synonymous 11/50 - 1
1-94543248-C-T c.1552G>A p.Glu518Lys Missense 11/50 - 1
1-94543262-A-G c.1538T>C p.Val513Ala Missense 11/50 - 1
1-94543268-C-T c.1532G>A p.Arg511His Missense 11/50 - 3
1-94543269-G-A c.1531C>T p.Arg511Cys Missense 11/50 - 4
1-94543271-A-C c.1529T>G p.Leu510Arg Missense 11/50 - 1
1-94543271-A-G c.1529T>C p.Leu510Pro Missense 11/50 - 1
1-94543278-G-A c.1522C>T p.Arg508Cys Missense 11/50 - 1
1-94543281-C-A c.1519G>T p.Asp507Tyr Missense 11/50 - 2
1-94543300-C-T c.1500G>A p.Arg500Arg Synonymous 11/50 - 1
1-94543303-C-G c.1497G>C p.Trp499Cys Missense 11/50 - 1
1-94543304-C-T c.1496G>A p.Trp499* Nonsense 11/50 - 1
1-94543308-C-T c.1492G>A p.Asp498Asn Missense 11/50 - 1
1-94543367-A-G c.1433T>C p.Ile478Thr Missense 11/50 - 1
1-94543389-C-T c.1411G>A p.Glu471Lys Missense 11/50 - 6
1-94543391-T-G c.1409A>C p.Glu470Ala Missense 11/50 - 1
1-94543419-TTT-T c.1382_1383del p.Lys461Argfs*5 Frameshift 11/50 - 1
1-94543426-TT-T c.1375del p.Thr459Glnfs*2 Frameshift 11/50 - 2
1-94543427-G-A c.1373C>T p.Pro458Leu Missense 11/50 - 1
1-94543428-G-A c.1372C>T p.Pro458Ser Missense 11/50 - 1
1-94543436-A-T c.1364T>A p.Leu455Gln Missense 11/50 - 1
1-94543664-A-T c.1357-221T>A - IntronicSNV - 10/49 1
1-94544141-CC-C c.1356+10del - IntronicDeletion - 10/49 1
1-94544159-A-G c.1343T>C p.Met448Thr Missense 10/50 - 1
1-94544159-A-T c.1343T>A p.Met448Lys Missense 10/50 - 1
1-94544185-C-T c.1317G>A p.Trp439* Nonsense 10/50 - 5
1-94544200-CT-C c.1302del p.Gln437Argfs*12 Frameshift 10/50 - 2
1-94544203-T-C c.1299A>G p.Glu433Glu Synonymous 10/50 - 1
1-94544233-G-A c.1269C>T p.His423His Synonymous 10/50 - 8
1-94544234-T-C c.1268A>G p.His423Arg Missense 10/50 - 23
1-94544234-T-G c.1268A>C p.His423Pro Missense 10/50 - 7
1-94544241-G-C c.1261C>G p.Leu421Val Missense 10/50 - 1
1-94544249-A-G c.1253T>C p.Phe418Ser Missense 10/50 - 5
1-94544250-A-G c.1252T>C p.Phe418Leu Missense 10/50 - 1
1-94544257-G-T c.1245C>A p.Asn415Lys Missense 10/50 - 1
1-94544276-G-A c.1240-14C>T - IntronicSNV - 9/49 3
1-94544844-A-G c.1239+34T>C - IntronicSNV - 9/49 1
1-94544877-C-G c.1239+1G>C - IntronicSNV - 9/49 1
1-94544880-T-A c.1237A>T p.Asn413Tyr Missense 9/50 - 1
1-94544893-T-C c.1224A>G p.Arg408Arg Synonymous 9/50 - 1
1-94544895-G-A c.1222C>T p.Arg408* Nonsense 9/50 - 7
1-94544906-G-T c.1211C>A p.Ser404* Nonsense 9/50 - 1
1-94544909-T-A c.1208A>T p.Asp403Val Missense 9/50 - 1
1-94544913-G-C c.1204C>G p.Pro402Ala Missense 9/50 - 3
1-94544916-T-G c.1201A>C p.Thr401Pro Missense 9/50 - 1
1-94544929-TCC-TGT c.1186_1187delinsAC p.Gly396Thr Missense 9/50 - 1
1-94544930-C-T c.1187G>A p.Gly396Glu Missense 9/50 - 1
1-94544977-A-T c.1140T>A p.Asn380Lys Missense 9/50 - 8
1-94545018-C-T c.1100-1G>A - IntronicSNV - 8/49 1
1-94545160-C-T c.1100-143G>A - IntronicSNV - 8/49 2
1-94546033-C-G c.1099+1G>C - IntronicSNV - 8/49 2
1-94546047-A-T c.1086T>A p.Tyr362* Nonsense 8/50 - 3
1-94546047-A-C c.1086T>G p.Tyr362* Nonsense 8/50 - 3
1-94546095-CCTTATAGTTATTGTC-C c.1025_1039del p.Asp342_Lys346del InFrameDeletion 8/50 - 1
1-94546096-T-G c.1037A>C p.Lys346Thr Missense 8/50 - 3
1-94546098-TATAGTTATTGTCTT-T c.1025_1038del p.Asp342Glyfs*6 Frameshift 8/50 - 1
1-94546099-T-C c.1034A>G p.Tyr345Cys Missense 8/50 - 1
1-94546102-T-TA c.1030_1031insT p.Asn344Ilefs*3 Frameshift 8/50 - 1
1-94546104-A-G c.1029T>C p.Asn343Asn Synonymous 8/50 - 3
1-94546104-A-AA c.1029dup p.Asn344* Nonsense 8/50 - 2
1-94546105-ATT-A c.1027_1028del p.Asn343* Frameshift 8/50 - 1
1-94546111-T-C c.1022A>G p.Glu341Gly Missense 8/50 - 2
1-94546114-T-C c.1019A>G p.Tyr340Cys Missense 8/50 - 1
1-94546118-A-C c.1015T>G p.Trp339Gly Missense 8/50 - 1
1-94546126-G-C c.1007C>G p.Ser336Cys Missense 8/50 - 2
1-94546127-GA-G c.1006del p.Ser336Profs*38 Frameshift 8/50 - 1
1-94546141-C-G c.992G>C p.Gly331Ala Missense 8/50 - 1
1-94546142-C-A c.991G>T p.Gly331Cys Missense 8/50 - 1
1-94546142-C-T c.991G>A p.Gly331Ser Missense 8/50 - 1
1-94546150-T-A c.983A>T p.Glu328Val Missense 8/50 - 3
1-94546151-C-A c.982G>T p.Glu328* Nonsense 8/50 - 2
1-94546155-G-T c.978C>A p.Tyr326* Nonsense 8/50 - 1
1-94546185-CC-C c.950del p.Gly317Alafs*57 Frameshift 8/50 - 1
1-94546186-CA-C c.947del p.Met316Argfs*58 Frameshift 8/50 - 1
1-94546207-G-C c.926C>G p.Pro309Arg Missense 8/50 - 2
1-94546220-G-A c.913C>T p.Gln305* Nonsense 8/50 - 1
1-94546234-G-T c.899C>A p.Thr300Asn Missense 8/50 - 1
1-94546248-AG-A c.885del p.Leu296Cysfs*4 Frameshift 8/50 - 6
1-94546253-G-A c.880C>T p.Gln294* Nonsense 8/50 - 2
1-94546261-G-A c.872C>T p.Pro291Leu Missense 8/50 - 2
1-94546262-G-C c.871C>G p.Pro291Ala Missense 8/50 - 1
1-94546264-C-T c.869G>A p.Arg290Gln Missense 8/50 - 1
1-94546265-G-A c.868C>T p.Arg290Trp Missense 8/50 - 7
1-94546266-A-G c.867T>C p.His289His Synonymous 8/50 - 1
1-94546283-A-G c.859-9T>C - IntronicSNV - 7/49 5
1-94546315-A-G c.859-41T>C - IntronicSNV - 7/49 1
1-94546509-A-G c.859-235T>C - IntronicSNV - 7/49 1
1-94546515-T-G c.859-241A>C - IntronicSNV - 7/49 1
1-94546517-CATG-C c.859-245_859-243del - IntronicDeletion - 7/49 1
1-94546530-T-C c.859-256A>G - IntronicSNV - 7/49 1
1-94546638-G-A c.859-364C>T - IntronicSNV - 7/49 1
1-94546780-C-G c.859-506G>C - IntronicSNV - 7/49 2
1-94547303-T-C c.859-1029A>G - IntronicSNV - 7/49 1
1-94547432-G-A c.859-1158C>T - IntronicSNV - 7/49 1
1-94547883-C-G c.858+1025G>C - IntronicSNV - 7/49 1
1-94547889-A-G c.858+1019T>C - IntronicSNV - 7/49 1
1-94548080-C-G c.858+828G>C - IntronicSNV - 7/49 2
1-94548382-A-C c.858+526T>G - IntronicSNV - 7/49 1
1-94548906-A-T c.858+2T>A - IntronicSNV - 7/49 2
1-94548913-G-A c.853C>T p.Gln285* Nonsense 7/50 - 1
1-94548948-C-T c.818G>A p.Trp273* Nonsense 7/50 - 1
1-94548947-C-T c.819G>A p.Trp273* Nonsense 7/50 - 1
1-94548982-C-T c.784G>A p.Asp262Asn Missense 7/50 - 1
1-94548996-A-C c.770T>G p.Leu257Arg Missense 7/50 - 1
1-94549029-A-G c.769-32T>C - IntronicSNV - 6/49 1
1-94549772-G-A c.769-775C>T - IntronicSNV - 6/49 1
1-94549781-G-A c.769-784C>T - IntronicSNV - 6/49 2
1-94550555-A-G c.769-1558T>C - IntronicSNV - 6/49 2
1-94550775-A-G c.769-1778T>C - IntronicSNV - 6/49 1
1-94553438-C-T c.769-4441G>A - IntronicSNV - 6/49 32
1-94553866-A-G c.769-4869T>C - IntronicSNV - 6/49 1
1-94554453-G-A c.769-5456C>T - IntronicSNV - 6/49 1
1-94557021-T-C c.768+7329A>G - IntronicSNV - 6/49 1
1-94558110-G-T c.768+6240C>A - IntronicSNV - 6/49 5
1-94558110-G-A c.768+6240C>T - IntronicSNV - 6/49 5
1-94558425-T-C c.768+5925A>G - IntronicSNV - 6/49 6
1-94561127-G-A c.768+3223C>T - IntronicSNV - 6/49 1
1-94562084-C-T c.768+2266G>A - IntronicSNV - 6/49 1
1-94562770-C-T c.768+1580G>A - IntronicSNV - 6/49 2
1-94563842-T-C c.768+508A>G - IntronicSNV - 6/49 1
1-94563992-G-A c.768+358C>T - IntronicSNV - 6/49 3
1-94563997-A-G c.768+353T>C - IntronicSNV - 6/49 1
1-94564321-AATTGGCGAGCAGCCAAACCCCTCCCTTACCACACGGAAGAGCTTGAAGAAGTCCAC-A c.742_768+29del - SpliceDonorDeletion 6/50 6/49 1
1-94564350-C-G c.768G>C p.Val256Val Synonymous 6/50 - 18
1-94564350-C-A c.768G>T p.Val256Val Synonymous 6/50 - 33
1-94564350-C-T c.768G>A p.Val256Val Synonymous 6/50 - 18
1-94564354-CG-GC c.763_764delinsGC p.Arg255Ala Missense 6/50 - 1
1-94564355-G-A c.763C>T p.Arg255Cys Missense 6/50 - 2
1-94564378-T-G c.740A>C p.Asn247Thr Missense 6/50 - 1
1-94564378-T-A c.740A>T p.Asn247Ile Missense 6/50 - 3
1-94564378-T-C c.740A>G p.Asn247Ser Missense 6/50 - 1
1-94564383-A-C c.735T>G p.Tyr245* Nonsense 6/50 - 9
1-94564385-A-G c.733T>C p.Tyr245His Missense 6/50 - 2
1-94564387-A-G c.731T>C p.Leu244Pro Missense 6/50 - 1
1-94564408-A-G c.710T>C p.Leu237Pro Missense 6/50 - 1
1-94564410-GGT-TAA c.706_708delinsTTA p.Thr236Leu Nonsense 6/50 - 1
1-94564418-G-A c.700C>T p.Gln234* Nonsense 6/50 - 3
1-94564430-A-T c.688T>A p.Cys230Ser Missense 6/50 - 1
1-94564429-C-G c.689G>C p.Cys230Ser Missense 6/50 - 1
1-94564432-A-G c.686T>C p.Leu229Pro Missense 6/50 - 3
1-94564440-AGCGCACCGTCTT-A c.667_678del p.Lys223_Arg226del InFrameDeletion 6/50 - 1
1-94564441-C-A c.677G>T p.Arg226Leu Missense 6/50 - 1
1-94564442-CGCACCGTCTTTGC-C c.666_678del p.Lys223Metfs*14 Frameshift 6/50 - 2
1-94564442-G-A c.676C>T p.Arg226Cys Missense 6/50 - 1
1-94564451-T-G c.667A>C p.Lys223Gln Missense 6/50 - 3
1-94564453-G-A c.665C>T p.Ala222Val Missense 6/50 - 1
1-94564457-C-T c.661G>A p.Gly221Arg Missense 6/50 - 1
1-94564460-G-A c.658C>T p.Arg220Cys Missense 6/50 - 6
1-94564460-CG-C c.658del p.Arg220Alafs*21 Frameshift 6/50 - 1
1-94564462-C-G c.656G>C p.Arg219Thr Missense 6/50 - 4
1-94564463-T-A c.655A>T p.Arg219* Nonsense 6/50 - 4
1-94564483-C-T c.635G>A p.Arg212His Missense 6/50 - 6
1-94564484-G-A c.634C>T p.Arg212Cys Missense 6/50 - 33
1-94564484-G-T c.634C>A p.Arg212Ser Missense 6/50 - 1
1-94564499-C-T c.619G>A p.Glu207Lys Missense 6/50 - 1
1-94564500-G-A c.618C>T p.Ser206Ser Synonymous 6/50 - 1
1-94564500-G-C c.618C>G p.Ser206Arg Missense 6/50 - 1
1-94564531-G-A c.587C>T p.Pro196Leu Missense 6/50 - 1
1-94564543-G-A c.575C>T p.Ala192Val Missense 6/50 - 1
1-94564544-C-T c.574G>A p.Ala192Thr Missense 6/50 - 2
1-94564548-C-A c.571-1G>T - IntronicSNV - 5/49 3
1-94564549-T-A c.571-2A>T - IntronicSNV - 5/49 2
1-94565430-C-G c.571-883G>C - IntronicSNV - 5/49 1
1-94565430-C-T c.571-883G>A - IntronicSNV - 5/49 1
1-94566254-G-A c.571-1707C>T - IntronicSNV - 5/49 1
1-94566311-C-T c.571-1764G>A - IntronicSNV - 5/49 1
1-94566773-T-C c.570+1798A>G - IntronicSNV - 5/49 1
1-94567072-G-T c.570+1499C>A - IntronicSNV - 5/49 1
1-94568031-CC-C c.570+541del - IntronicDeletion - 5/49 1
1-94568551-G-A c.570+20C>T - IntronicSNV - 5/49 1
1-94568564-CCCCCTACC-C c.570+1_570+8del - SpliceDonorDeletion 5/50 5/49 1
1-94568570-C-T c.570+1G>A - IntronicSNV - 5/49 1
1-94568571-C-G c.570G>C p.Gln190His Missense 5/50 - 1
1-94568576-C-A c.565G>T p.Glu189* Nonsense 5/50 - 1
1-94568577-CT-C c.564del p.Glu189Serfs*12 Frameshift 5/50 - 2
1-94568582-G-A c.559C>T p.Arg187Cys Missense 5/50 - 1
1-94568627-C-T c.514G>A p.Gly172Ser Missense 5/50 - 5
1-94568628-G-A c.513C>T p.Ile171Ile Synonymous 5/50 - 1
1-94568663-C-A c.478G>T p.Glu160* Nonsense 5/50 - 2
1-94568675-T-C c.466A>G p.Ile156Val Missense 5/50 - 6
1-94568684-T-A c.457A>T p.Ile153Leu Missense 5/50 - 1
1-94568686-C-T c.455G>A p.Arg152Gln Missense 5/50 - 6
1-94568687-G-A c.454C>T p.Arg152* Nonsense 5/50 - 11
1-94570016-G-T c.443-1318C>A - IntronicSNV - 4/49 12
1-94574147-G-A c.428C>T p.Pro143Leu Missense 4/50 - 2
1-94574156-CG-GC c.418_419delinsGC p.Arg140Ala Missense 4/50 - 1
1-94574175-G-A c.400C>T p.Gln134* Nonsense 4/50 - 2
1-94574223-TCT-T c.355_356del p.Ser119Profs*41 Frameshift 4/50 - 1
1-94574233-C-A c.342G>T p.Met114Ile Missense 4/50 - 1
1-94574233-C-G c.342G>C p.Met114Ile Missense 4/50 - 1
1-94574233-C-T c.342G>A p.Met114Ile Missense 4/50 - 1
1-94574251-A-AA c.327dup p.Gln110Serfs*51 Frameshift 4/50 - 1
1-94574252-T-A c.323A>T p.Asp108Val Missense 4/50 - 1
1-94574256-G-A c.319C>T p.Arg107* Nonsense 4/50 - 6
1-94574257-A-C c.318T>G p.Tyr106* Nonsense 4/50 - 2
1-94574258-T-A c.317A>T p.Tyr106Phe Missense 4/50 - 1
1-94574265-T-A c.310A>T p.Arg104Trp Missense 4/50 - 1
1-94575056-C-T c.303-784G>A - IntronicSNV - 3/49 6
1-94575178-T-C c.303-906A>G - IntronicSNV - 3/49 1
1-94576926-G-A c.302+68C>T - IntronicSNV - 3/49 6
1-94576968-T-G c.302+26A>C - IntronicSNV - 3/49 3
1-94576968-T-C c.302+26A>G - IntronicSNV - 3/49 6
1-94576968-T-A c.302+26A>T - IntronicSNV - 3/49 3
1-94576974-G-A c.302+20C>T - IntronicSNV - 3/49 2
1-94576990-T-G c.302+4A>C - IntronicSNV - 3/49 3
1-94576990-T-C c.302+4A>G - IntronicSNV - 3/49 1
1-94576993-C-T c.302+1G>A - IntronicSNV - 3/49 1
1-94576996-G-C c.300C>G p.Ser100Ser Synonymous 3/50 - 1
1-94576996-G-A c.300C>T p.Ser100Ser Synonymous 3/50 - 1
1-94576996-G-T c.300C>A p.Ser100Ser Synonymous 3/50 - 1
1-94576998-A-G c.298T>C p.Ser100Pro Missense 3/50 - 3
1-94577002-G-C c.294C>G p.Asn98Lys Missense 3/50 - 1
1-94577003-T-C c.293A>G p.Asn98Ser Missense 3/50 - 1
1-94577008-G-T c.288C>A p.Asn96Lys Missense 3/50 - 2
1-94577008-G-C c.288C>G p.Asn96Lys Missense 3/50 - 2
1-94577010-T-C c.286A>G p.Asn96Asp Missense 3/50 - 11
1-94577010-T-G c.286A>C p.Asn96His Missense 3/50 - 2
1-94577011-TT-T c.287del p.Asn96Thrfs*19 Frameshift 3/50 - 1
1-94577031-C-T c.265G>A p.Glu89Lys Missense 3/50 - 1
1-94577032-T-A c.264A>T p.Gly88Gly Synonymous 3/50 - 1
1-94577034-C-T c.262G>A p.Gly88Arg Missense 3/50 - 2
1-94577046-T-TA c.249_250insT p.Ser84* Nonsense 3/50 - 1
1-94577069-T-G c.227A>C p.Asn76Thr Missense 3/50 - 1
1-94577073-A-C c.223T>G p.Cys75Gly Missense 3/50 - 2
1-94577073-A-G c.223T>C p.Cys75Arg Missense 3/50 - 1
1-94577079-T-A c.217A>T p.Ile73Phe Missense 3/50 - 1
1-94577080-C-T c.216G>A p.Gly72Gly Synonymous 3/50 - 1
1-94577081-C-T c.215G>A p.Gly72Glu Missense 3/50 - 1
1-94577082-C-T c.214G>A p.Gly72Arg Missense 3/50 - 4
1-94577083-C-CC c.216dup p.Ile73Aspfs*26 Frameshift 3/50 - 1
1-94577090-C-T c.206G>A p.Trp69* Nonsense 3/50 - 1
1-94577093-G-A c.203C>T p.Pro68Leu Missense 3/50 - 5
1-94577093-G-C c.203C>G p.Pro68Arg Missense 3/50 - 1
1-94577102-C-T c.194G>A p.Gly65Glu Missense 3/50 - 5
1-94577105-G-A c.191C>T p.Ala64Val Missense 3/50 - 1
1-94577110-GGG-TAA c.184_186delinsTTA p.Pro62Leu Nonsense 3/50 - 1
1-94577112-G-A c.184C>T p.Pro62Ser Missense 3/50 - 3
1-94577116-TC-T c.180del p.Met61Cysfs*17 Frameshift 3/50 - 1
1-94577117-G-T c.179C>A p.Ala60Glu Missense 3/50 - 1
1-94577117-G-A c.179C>T p.Ala60Val Missense 3/50 - 4
1-94577118-C-T c.178G>A p.Ala60Thr Missense 3/50 - 1
1-94577132-T-C c.164A>G p.His55Arg Missense 3/50 - 2
1-94577135-C-A c.161G>T p.Cys54Phe Missense 3/50 - 1
1-94577135-C-T c.161G>A p.Cys54Tyr Missense 3/50 - 28
1-94577137-T-C c.161-2A>G - IntronicSNV - 2/49 1
1-94577138-T-G c.161-3A>C - IntronicSNV - 2/49 1
1-94577158-A-C c.161-23T>G - IntronicSNV - 2/49 1
1-94578524-C-G c.160+5G>C - IntronicSNV - 2/49 1
1-94578527-A-G c.160+2T>C - IntronicSNV - 2/49 2
1-94578529-A-C c.160T>G p.Cys54Gly Missense 2/50 - 1
1-94578529-A-ACT c.159_160insAG p.Cys54Serfs*25 SpliceDonorInsertion 2/50 - 1
1-94578532-C-A c.157G>T p.Glu53* Nonsense 2/50 - 1
1-94578533-A-C c.156T>G p.His52Gln Missense 2/50 - 1
1-94578548-T-G c.141A>C p.Pro47Pro Synonymous 2/50 - 3
1-94578548-T-A c.141A>T p.Pro47Pro Synonymous 2/50 - 1
1-94578548-T-C c.141A>G p.Pro47Pro Synonymous 2/50 - 3
1-94578567-C-T c.122G>A p.Trp41* Nonsense 2/50 - 3
1-94578589-GATAAAG-G c.101_106del p.Ser34_Leu35del InFrameDeletion 2/50 - 1
1-94578594-G-A c.95C>T p.Pro32Leu Missense 2/50 - 1
1-94578596-C-T c.93G>A p.Trp31* Nonsense 2/50 - 2
1-94578598-A-G c.91T>C p.Trp31Arg Missense 2/50 - 2
1-94578600-A-G c.89T>C p.Val30Ala Missense 2/50 - 1
1-94578618-C-T c.71G>A p.Arg24His Missense 2/50 - 3
1-94578619-G-A c.70C>T p.Arg24Cys Missense 2/50 - 3
1-94578624-T-C c.67-2A>G - IntronicSNV - 1/49 1
1-94580645-A-C c.67-2023T>G - IntronicSNV - 1/49 1
1-94581788-G-A c.67-3166C>T - IntronicSNV - 1/49 1
1-94582293-G-C c.67-3671C>G - IntronicSNV - 1/49 2
1-94582401-A-C c.67-3779T>G - IntronicSNV - 1/49 1
1-94586328-C-G c.66+208G>C - IntronicSNV - 1/49 1
1-94586328-C-T c.66+208G>A - IntronicSNV - 1/49 1
1-94586536-C-T c.66G>A p.Lys22Lys Synonymous 1/50 - 2
1-94586536-C-A c.66G>T p.Lys22Asn Missense 1/50 - 1
1-94586541-G-A c.61C>T p.Gln21* Nonsense 1/50 - 3
1-94586549-C-T c.53G>A p.Arg18Gln Missense 1/50 - 1
1-94586550-G-A c.52C>T p.Arg18Trp Missense 1/50 - 12
1-94586557-C-T c.45G>A p.Trp15* Nonsense 1/50 - 3
1-94586559-A-G c.43T>C p.Trp15Arg Missense 1/50 - 1
1-94586560-G-GCG c.42_43insGC p.Trp15Alafs*26 Frameshift 1/50 - 1
1-94586566-C-T c.36G>A p.Trp12* Nonsense 1/50 - 1
1-94586566-C-G c.36G>C p.Trp12Cys Missense 1/50 - 1
1-94586570-A-G c.32T>C p.Leu11Pro Missense 1/50 - 4
1-94586581-T-TT c.21dup p.Gln8Thrfs*46 Frameshift 1/50 - 1
1-94586592-C-T c.10G>A p.Val4Met Missense 1/50 - 1
1-94586597-C-T c.5G>A p.Gly2Asp Missense 1/50 - 1
1-94586599-C-T c.3G>A p.Met1? Missense 1/50 - 1
1-94586600-A-G c.2T>C p.Met1? Missense 1/50 - 2
1-94586601-T-C c.1A>G p.Met1? Missense 1/50 - 2