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 |