17-41196363-C-T |
c.*1332G>A |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41196363-C-G |
c.*1332G>C |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41196368-C-T |
c.*1327G>A |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41196372-T-C |
c.*1323A>G |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41196403-A-G |
c.*1292T>C |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41196408-G-A |
c.*1287C>T |
- |
3-UTRSNV |
23/23 |
- |
19 |
17-41196582-C-T |
c.*1113G>A |
- |
3-UTRSNV |
23/23 |
- |
2 |
17-41196625-G-C |
c.*1070C>G |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41196914-G-A |
c.*781C>T |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41196945-T-C |
c.*750A>G |
- |
3-UTRSNV |
23/23 |
- |
2 |
17-41197113-G-A |
c.*582C>T |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41197274-C-A |
c.*421G>T |
- |
3-UTRSNV |
23/23 |
- |
25 |
17-41197467-T-C |
c.*228A>G |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41197610-T-C |
c.*85A>G |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41197637-G-T |
c.*58C>A |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41197637-G-A |
c.*58C>T |
- |
3-UTRSNV |
23/23 |
- |
1 |
17-41197659-G-C |
c.*36C>G |
- |
3-UTRSNV |
23/23 |
- |
4 |
17-41197659-G-A |
c.*36C>T |
- |
3-UTRSNV |
23/23 |
- |
4 |
17-41197704-G-GA |
c.5582_5583insT |
p.His1862Profs*18 |
Frameshift |
23/23 |
- |
1 |
17-41197707-G-C |
c.5580C>G |
p.His1860Gln |
Missense |
23/23 |
- |
1 |
17-41197707-G-T |
c.5580C>A |
p.His1860Gln |
Missense |
23/23 |
- |
1 |
17-41197708-GTGGG-G |
c.5577_5580del |
p.His1860Alafs*61 |
Frameshift |
23/23 |
- |
1 |
17-41197711-G-C |
c.5576C>G |
p.Pro1859Arg |
Missense |
23/23 |
- |
6 |
17-41197713-G-GG |
c.5578dup |
p.His1860Profs*20 |
Frameshift |
23/23 |
- |
2 |
17-41197715-T-G |
c.5572A>C |
p.Ile1858Leu |
Missense |
23/23 |
- |
4 |
17-41197716-C-G |
c.5571G>C |
p.Gln1857His |
Missense |
23/23 |
- |
1 |
17-41197716-C-A |
c.5571G>T |
p.Gln1857His |
Missense |
23/23 |
- |
1 |
17-41197718-G-A |
c.5569C>T |
p.Gln1857* |
Nonsense |
23/23 |
- |
1 |
17-41197719-GGG-TAA |
c.5566_5568delinsTTA |
p.Pro1856Leu |
Nonsense |
23/23 |
- |
2 |
17-41197723-AT-TA |
c.5563_5564delinsTA |
p.Ile1855* |
Nonsense |
23/23 |
- |
2 |
17-41197726-A-G |
c.5561T>C |
p.Leu1854Pro |
Missense |
23/23 |
- |
1 |
17-41197728-G-C |
c.5559C>G |
p.Tyr1853* |
Nonsense |
23/23 |
- |
24 |
17-41197728-G-T |
c.5559C>A |
p.Tyr1853* |
Nonsense |
23/23 |
- |
24 |
17-41197729-T-TT |
c.5558dup |
p.Tyr1853* |
Nonsense |
23/23 |
- |
3 |
17-41197729-T-C |
c.5558A>G |
p.Tyr1853Cys |
Missense |
23/23 |
- |
3 |
17-41197730-A-C |
c.5557T>G |
p.Tyr1853Asp |
Missense |
23/23 |
- |
1 |
17-41197732-G-A |
c.5555C>T |
p.Thr1852Ile |
Missense |
23/23 |
- |
1 |
17-41197734-G-T |
c.5553C>A |
p.Asp1851Glu |
Missense |
23/23 |
- |
2 |
17-41197734-G-A |
c.5553C>T |
p.Asp1851Asp |
Synonymous |
23/23 |
- |
1 |
17-41197742-C-A |
c.5545G>T |
p.Glu1849* |
Nonsense |
23/23 |
- |
1 |
17-41197751-G-A |
c.5536C>T |
p.Gln1846* |
Nonsense |
23/23 |
- |
3 |
17-41197753-GT-G |
c.5534del |
p.Tyr1845Serfs*10 |
Frameshift |
23/23 |
- |
1 |
17-41197756-A-C |
c.5531T>G |
p.Leu1844Arg |
Missense |
23/23 |
- |
3 |
17-41197756-A-G |
c.5531T>C |
p.Leu1844Pro |
Missense |
23/23 |
- |
3 |
17-41197757-AG-A |
c.5530del |
p.Leu1844Serfs*11 |
Frameshift |
23/23 |
- |
2 |
17-41197760-C-G |
c.5527G>C |
p.Ala1843Pro |
Missense |
23/23 |
- |
3 |
17-41197761-T-TT |
c.5526dup |
p.Ala1843Serfs*37 |
Frameshift |
23/23 |
- |
1 |
17-41197766-T-G |
c.5521A>C |
p.Ser1841Arg |
Missense |
23/23 |
- |
2 |
17-41197765-C-T |
c.5522G>A |
p.Ser1841Asn |
Missense |
23/23 |
- |
3 |
17-41197765-C-G |
c.5522G>C |
p.Ser1841Thr |
Missense |
23/23 |
- |
1 |
17-41197766-CT-C |
c.5521del |
p.Ser1841Valfs*2 |
Frameshift |
23/23 |
- |
2 |
17-41197768-TC-AC |
c.5519delinsT |
p.Asp1840Val |
Missense |
23/23 |
- |
1 |
17-41197771-A-G |
c.5516T>C |
p.Leu1839Ser |
Missense |
23/23 |
- |
2 |
17-41197774-A-C |
c.5513T>G |
p.Val1838Gly |
Missense |
23/23 |
- |
3 |
17-41197774-A-T |
c.5513T>A |
p.Val1838Glu |
Missense |
23/23 |
- |
9 |
17-41197776-C-G |
c.5511G>C |
p.Trp1837Cys |
Missense |
23/23 |
- |
2 |
17-41197776-C-A |
c.5511G>T |
p.Trp1837Cys |
Missense |
23/23 |
- |
2 |
17-41197776-C-T |
c.5511G>A |
p.Trp1837* |
Nonsense |
23/23 |
- |
5 |
17-41197777-C-CC |
c.5512dup |
p.Val1838Glyfs*42 |
Frameshift |
23/23 |
- |
1 |
17-41197777-C-T |
c.5510G>A |
p.Trp1837* |
Nonsense |
23/23 |
- |
5 |
17-41197778-A-G |
c.5509T>C |
p.Trp1837Arg |
Missense |
23/23 |
- |
14 |
17-41197778-A-C |
c.5509T>G |
p.Trp1837Gly |
Missense |
23/23 |
- |
5 |
17-41197779-C-G |
c.5508G>C |
p.Glu1836Asp |
Missense |
23/23 |
- |
1 |
17-41197780-T-C |
c.5507A>G |
p.Glu1836Gly |
Missense |
23/23 |
- |
1 |
17-41197781-C-T |
c.5506G>A |
p.Glu1836Lys |
Missense |
23/23 |
- |
3 |
17-41197783-C-G |
c.5504G>C |
p.Arg1835Pro |
Missense |
23/23 |
- |
3 |
17-41197783-C-T |
c.5504G>A |
p.Arg1835Gln |
Missense |
23/23 |
- |
8 |
17-41197784-G-A |
c.5503C>T |
p.Arg1835* |
Nonsense |
23/23 |
- |
25 |
17-41197785-GG-TG |
c.5502delinsA |
p.Thr1834Thr |
Missense |
23/23 |
- |
1 |
17-41197785-G-A |
c.5502C>T |
p.Thr1834Thr |
Synonymous |
23/23 |
- |
1 |
17-41197789-A-T |
c.5498T>A |
p.Val1833Glu |
Missense |
23/23 |
- |
2 |
17-41197790-C-T |
c.5497G>A |
p.Val1833Met |
Missense |
23/23 |
- |
10 |
17-41197796-GG-G |
c.5492del |
p.Pro1831Leufs*3 |
Frameshift |
23/23 |
- |
2 |
17-41197799-C-T |
c.5488G>A |
p.Ala1830Thr |
Missense |
23/23 |
- |
2 |
17-41197802-C-A |
c.5485G>T |
p.Glu1829* |
Nonsense |
23/23 |
- |
1 |
17-41197802-C-CC |
c.5485dup |
p.Glu1829Glyfs*51 |
Frameshift |
23/23 |
- |
1 |
17-41197804-AC-A |
c.5483del |
p.Cys1828Leufs*6 |
Frameshift |
23/23 |
- |
1 |
17-41197809-C-G |
c.5478G>C |
p.Gln1826His |
Missense |
23/23 |
- |
3 |
17-41197809-C-A |
c.5478G>T |
p.Gln1826His |
Missense |
23/23 |
- |
3 |
17-41197810-T-A |
c.5477A>T |
p.Gln1826Leu |
Missense |
23/23 |
- |
1 |
17-41197813-CCCAATTGC-C |
c.5470_5477del |
p.Ile1824Aspfs*3 |
Frameshift |
23/23 |
22/22 |
11 |
17-41197816-A-T |
c.5471T>A |
p.Ile1824Asn |
Missense |
23/23 |
- |
1 |
17-41197817-T-TA |
c.5469_5470insT |
p.Ile1824Tyrfs*6 |
SpliceAcceptorInsertion |
23/23 |
- |
2 |
17-41197817-T-TC |
c.5469_5470insG |
p.Ile1824Aspfs*6 |
SpliceAcceptorInsertion |
23/23 |
- |
4 |
17-41197817-T-TG |
c.5469_5470insC |
p.Ile1824Hisfs*6 |
SpliceAcceptorInsertion |
23/23 |
- |
2 |
17-41197820-GC-G |
c.5468-1del |
- |
IntronicDeletion |
- |
22/22 |
2 |
17-41197820-C-T |
c.5468-1G>A |
- |
IntronicSNV |
- |
22/22 |
3 |
17-41197821-T-A |
c.5468-2A>T |
- |
IntronicSNV |
- |
22/22 |
1 |
17-41199655-C-A |
c.5467+5G>T |
- |
IntronicSNV |
- |
22/22 |
1 |
17-41199655-C-G |
c.5467+5G>C |
- |
IntronicSNV |
- |
22/22 |
7 |
17-41199657-T-G |
c.5467+3A>C |
- |
IntronicSNV |
- |
22/22 |
1 |
17-41199659-C-T |
c.5467+1G>A |
- |
IntronicSNV |
- |
22/22 |
9 |
17-41199660-C-T |
c.5467G>A |
p.Ala1823Thr |
Missense |
22/23 |
- |
5 |
17-41199661-CATGGAAGCCATTGTCCTCTGTCCAGGCATCTGGCTGCACAACCACAATTGGGTGGACAC-C |
c.5409_5467del |
p.Val1804Asnfs*6 |
Unclassified |
22/23 |
- |
1 |
17-41199662-T-A |
c.5465A>T |
p.His1822Leu |
Missense |
22/23 |
- |
1 |
17-41199663-G-GA |
c.5463_5464insT |
p.His1822Serfs*8 |
Frameshift |
22/23 |
- |
3 |
17-41199671-T-C |
c.5456A>G |
p.Asn1819Ser |
Missense |
22/23 |
- |
1 |
17-41199673-TG-T |
c.5454del |
p.Asp1818Glufs*16 |
Frameshift |
22/23 |
- |
1 |
17-41199674-T-C |
c.5453A>G |
p.Asp1818Gly |
Missense |
22/23 |
- |
3 |
17-41199683-C-G |
c.5444G>C |
p.Trp1815Ser |
Missense |
22/23 |
- |
1 |
17-41199683-C-T |
c.5444G>A |
p.Trp1815* |
Nonsense |
22/23 |
- |
18 |
17-41199682-C-T |
c.5445G>A |
p.Trp1815* |
Nonsense |
22/23 |
- |
17 |
17-41199690-C-G |
c.5437G>C |
p.Asp1813His |
Missense |
22/23 |
- |
1 |
17-41199692-G-C |
c.5435C>G |
p.Pro1812Arg |
Missense |
22/23 |
- |
1 |
17-41199693-G-C |
c.5434C>G |
p.Pro1812Ala |
Missense |
22/23 |
- |
11 |
17-41199695-T-C |
c.5432A>G |
p.Gln1811Arg |
Missense |
22/23 |
- |
1 |
17-41199695-TG-AC |
c.5431_5432delinsGT |
p.Gln1811Val |
Missense |
22/23 |
- |
1 |
17-41199696-G-A |
c.5431C>T |
p.Gln1811* |
Nonsense |
22/23 |
- |
6 |
17-41199697-C-T |
c.5430G>A |
p.Val1810Val |
Synonymous |
22/23 |
- |
1 |
17-41199697-C-G |
c.5430G>C |
p.Val1810Val |
Synonymous |
22/23 |
- |
1 |
17-41199697-C-A |
c.5430G>T |
p.Val1810Val |
Synonymous |
22/23 |
- |
1 |
17-41199698-A-C |
c.5429T>G |
p.Val1810Gly |
Missense |
22/23 |
- |
1 |
17-41199701-A-G |
c.5426T>C |
p.Val1809Ala |
Missense |
22/23 |
- |
1 |
17-41199701-AC-AG |
c.5425delinsC |
p.Val1809Leu |
Missense |
22/23 |
- |
1 |
17-41199702-C-A |
c.5425G>T |
p.Val1809Phe |
Missense |
22/23 |
- |
6 |
17-41199702-ACCACAA-A |
c.5425_5430del |
p.Val1809_Val1810del |
InFrameDeletion |
22/23 |
- |
2 |
17-41199704-A-G |
c.5423T>C |
p.Val1808Ala |
Missense |
22/23 |
- |
2 |
17-41199707-A-C |
c.5420T>G |
p.Ile1807Ser |
Missense |
22/23 |
- |
1 |
17-41199709-TT-T |
c.5419del |
p.Ile1807Leufs*27 |
Frameshift |
22/23 |
- |
2 |
17-41199711-G-A |
c.5416C>T |
p.Pro1806Ser |
Missense |
22/23 |
- |
1 |
17-41199711-G-C |
c.5416C>G |
p.Pro1806Ala |
Missense |
22/23 |
- |
4 |
17-41199713-T-A |
c.5414A>T |
p.His1805Leu |
Missense |
22/23 |
- |
1 |
17-41199716-A-T |
c.5411T>A |
p.Val1804Asp |
Missense |
22/23 |
- |
15 |
17-41199716-A-G |
c.5411T>C |
p.Val1804Ala |
Missense |
22/23 |
- |
1 |
17-41199719-C-G |
c.5408G>C |
p.Gly1803Ala |
Missense |
22/23 |
- |
4 |
17-41199721-C-T |
c.5407-1G>A |
- |
IntronicSNV |
- |
21/22 |
2 |
17-41199722-T-A |
c.5407-2A>T |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41199722-T-C |
c.5407-2A>G |
- |
IntronicSNV |
- |
21/22 |
2 |
17-41199730-C-T |
c.5407-10G>A |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41199745-A-T |
c.5407-25T>A |
- |
IntronicSNV |
- |
21/22 |
3 |
17-41199796-TT-T |
c.5407-69del |
- |
IntronicDeletion |
- |
21/22 |
1 |
17-41200107-C-T |
c.5407-387G>A |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41200417-CGCCATGTTGGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCTCAG-C |
c.5406+663_5407-697del |
- |
Unclassified |
- |
21/22 |
1 |
17-41200799-GTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGA-G |
c.5406+281_5406+339del |
- |
Unclassified |
- |
21/22 |
1 |
17-41201105-T-A |
c.5406+33A>T |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41201129-A-G |
c.5406+9T>C |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41201130-A-G |
c.5406+8T>C |
- |
IntronicSNV |
- |
21/22 |
2 |
17-41201131-T-C |
c.5406+7A>G |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41201133-C-T |
c.5406+5G>A |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41201134-T-C |
c.5406+4A>G |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41201135-T-A |
c.5406+3A>T |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41201136-A-G |
c.5406+2T>C |
- |
IntronicSNV |
- |
21/22 |
1 |
17-41201136-TA-T |
c.5406+2del |
- |
IntronicDeletion |
- |
21/22 |
1 |
17-41201136-TACT-T |
c.5406+1_5406+3del |
- |
SpliceDonorDeletion |
21/23 |
21/22 |
6 |
17-41201137-C-T |
c.5406+1G>A |
- |
IntronicSNV |
- |
21/22 |
2 |
17-41201138-CTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCA-C |
c.5348_5406del |
p.Met1783Argfs*27 |
InFrameDeletion |
21/23 |
- |
3 |
17-41201143-C-A |
c.5401G>T |
p.Gly1801Cys |
Missense |
21/23 |
- |
1 |
17-41201148-GGTG-G |
c.5395_5397del |
p.Thr1799del |
InFrameDeletion |
21/23 |
- |
1 |
17-41201149-T-C |
c.5395A>G |
p.Thr1799Ala |
Missense |
21/23 |
- |
5 |
17-41201157-G-T |
c.5387C>A |
p.Ser1796* |
Nonsense |
21/23 |
- |
2 |
17-41201158-A-AG |
c.5385_5386insC |
p.Ser1796Leufs*34 |
Frameshift |
21/23 |
- |
2 |
17-41201161-G-A |
c.5383C>T |
p.Leu1795Phe |
Missense |
21/23 |
- |
1 |
17-41201161-G-GG |
c.5383dup |
p.Leu1795Profs*35 |
Frameshift |
21/23 |
- |
14 |
17-41201162-C-A |
c.5382G>T |
p.Glu1794Asp |
Missense |
21/23 |
- |
3 |
17-41201162-C-G |
c.5382G>C |
p.Glu1794Asp |
Missense |
21/23 |
- |
3 |
17-41201165-CC-C |
c.5380del |
p.Glu1794Serfs*40 |
Frameshift |
21/23 |
- |
1 |
17-41201167-T-A |
c.5377A>T |
p.Lys1793* |
Nonsense |
21/23 |
- |
4 |
17-41201173-C-A |
c.5371G>T |
p.Val1791Leu |
Missense |
21/23 |
- |
1 |
17-41201175-G-T |
c.5369C>A |
p.Ser1790Tyr |
Missense |
21/23 |
- |
1 |
17-41201179-C-A |
c.5365G>T |
p.Ala1789Ser |
Missense |
21/23 |
- |
1 |
17-41201179-C-T |
c.5365G>A |
p.Ala1789Thr |
Missense |
21/23 |
- |
5 |
17-41201181-C-A |
c.5363G>T |
p.Gly1788Val |
Missense |
21/23 |
- |
19 |
17-41201181-C-T |
c.5363G>A |
p.Gly1788Asp |
Missense |
21/23 |
- |
10 |
17-41201185-A-T |
c.5359T>A |
p.Cys1787Ser |
Missense |
21/23 |
- |
11 |
17-41201184-C-G |
c.5360G>C |
p.Cys1787Ser |
Missense |
21/23 |
- |
8 |
17-41201186-ACA-A |
c.5361_5362del |
p.Cys1787Trpfs*42 |
Frameshift |
21/23 |
- |
1 |
17-41201187-A-G |
c.5357T>C |
p.Leu1786Pro |
Missense |
21/23 |
- |
2 |
17-41201189-C-A |
c.5355G>T |
p.Gln1785His |
Missense |
21/23 |
- |
4 |
17-41201189-C-G |
c.5355G>C |
p.Gln1785His |
Missense |
21/23 |
- |
4 |
17-41201191-G-A |
c.5353C>T |
p.Gln1785* |
Nonsense |
21/23 |
- |
2 |
17-41201195-C-G |
c.5349G>C |
p.Met1783Ile |
Missense |
21/23 |
- |
1 |
17-41201195-C-A |
c.5349G>T |
p.Met1783Ile |
Missense |
21/23 |
- |
1 |
17-41201195-C-T |
c.5349G>A |
p.Met1783Ile |
Missense |
21/23 |
- |
1 |
17-41201196-A-G |
c.5348T>C |
p.Met1783Thr |
Missense |
21/23 |
- |
10 |
17-41201197-T-A |
c.5347A>T |
p.Met1783Leu |
Missense |
21/23 |
- |
1 |
17-41201197-T-G |
c.5347A>C |
p.Met1783Leu |
Missense |
21/23 |
- |
1 |
17-41201198-C-T |
c.5346G>A |
p.Trp1782* |
Nonsense |
21/23 |
- |
12 |
17-41201199-C-T |
c.5345G>A |
p.Trp1782* |
Nonsense |
21/23 |
- |
5 |
17-41201205-A-G |
c.5339T>C |
p.Leu1780Pro |
Missense |
21/23 |
- |
14 |
17-41201209-TG-T |
c.5335del |
p.Gln1779Asnfs*14 |
Frameshift |
21/23 |
- |
7 |
17-41201210-A-G |
c.5334T>C |
p.Asp1778Asp |
Synonymous |
21/23 |
- |
1 |
17-41201211-T-C |
c.5333A>G |
p.Asp1778Gly |
Missense |
21/23 |
- |
4 |
17-41201214-TAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTC-T |
c.5333-61_5333-3del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
- |
20/22 |
1 |
17-41201219-G-A |
c.5333-8C>T |
- |
IntronicSNV |
- |
20/22 |
2 |
17-41201228-G-T |
c.5333-17C>A |
- |
IntronicSNV |
- |
20/22 |
1 |
17-41201248-AA-A |
c.5333-36del |
- |
IntronicDeletion |
- |
20/22 |
1 |
17-41201364-T-C |
c.5333-153A>G |
- |
IntronicSNV |
- |
20/22 |
5 |
17-41202408-CGAGGTCAGGAGATCGGGACCATATTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA-C |
c.5332+614_5332+672del |
- |
Unclassified |
- |
20/22 |
1 |
17-41202688-G-A |
c.5332+392C>T |
- |
IntronicSNV |
- |
20/22 |
1 |
17-41202906-T-TT |
c.5332+182dup |
- |
IntronicInsertion |
- |
20/22 |
1 |
17-41203077-T-C |
c.5332+3A>G |
- |
IntronicSNV |
- |
20/22 |
1 |
17-41203077-TT-T |
c.5332+4del |
- |
IntronicDeletion |
- |
20/22 |
2 |
17-41203079-C-T |
c.5332+1G>A |
- |
IntronicSNV |
- |
20/22 |
7 |
17-41203080-CC-C |
c.5332+1del |
- |
IntronicDeletion |
20/23 |
- |
2 |
17-41203080-C-T |
c.5332G>A |
p.Asp1778Asn |
Missense |
20/23 |
- |
4 |
17-41203080-C-A |
c.5332G>T |
p.Asp1778Tyr |
Missense |
20/23 |
- |
3 |
17-41203083-GTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGATCTG-G |
c.5278_5332del |
p.Phe1761Asnfs*14 |
Unclassified |
20/23 |
19/22 |
1 |
17-41203085-G-T |
c.5327C>A |
p.Pro1776His |
Missense |
20/23 |
- |
4 |
17-41203086-G-GG |
c.5328dup |
p.Thr1777Hisfs*53 |
Frameshift |
20/23 |
- |
2 |
17-41203086-G-A |
c.5326C>T |
p.Pro1776Ser |
Missense |
20/23 |
- |
1 |
17-41203088-AT-GA |
c.5323_5324delinsTC |
p.Met1775Ser |
Missense |
20/23 |
- |
2 |
17-41203088-A-T |
c.5324T>A |
p.Met1775Lys |
Missense |
20/23 |
- |
13 |
17-41203088-A-G |
c.5324T>C |
p.Met1775Thr |
Missense |
20/23 |
- |
1 |
17-41203088-A-C |
c.5324T>G |
p.Met1775Arg |
Missense |
20/23 |
- |
94 |
17-41203089-T-C |
c.5323A>G |
p.Met1775Val |
Missense |
20/23 |
- |
1 |
17-41203089-T-G |
c.5323A>C |
p.Met1775Leu |
Missense |
20/23 |
- |
1 |
17-41203089-T-A |
c.5323A>T |
p.Met1775Leu |
Missense |
20/23 |
- |
1 |
17-41203091-TT-GC |
c.5320_5321delinsGC |
p.Asn1774Ala |
Missense |
20/23 |
- |
1 |
17-41203095-T-A |
c.5317A>T |
p.Thr1773Ser |
Missense |
20/23 |
- |
3 |
17-41203094-G-C |
c.5318C>G |
p.Thr1773Ser |
Missense |
20/23 |
- |
3 |
17-41203094-G-A |
c.5318C>T |
p.Thr1773Ile |
Missense |
20/23 |
- |
1 |
17-41203094-G-GG |
c.5319dup |
p.Asn1774Glnfs*56 |
Frameshift |
20/23 |
- |
2 |
17-41203100-G-C |
c.5312C>G |
p.Pro1771Arg |
Missense |
20/23 |
- |
1 |
17-41203100-G-A |
c.5312C>T |
p.Pro1771Leu |
Missense |
20/23 |
- |
2 |
17-41203101-G-A |
c.5311C>T |
p.Pro1771Ser |
Missense |
20/23 |
- |
1 |
17-41203103-C-T |
c.5309G>A |
p.Gly1770Glu |
Missense |
20/23 |
- |
1 |
17-41203103-C-A |
c.5309G>T |
p.Gly1770Val |
Missense |
20/23 |
- |
6 |
17-41203104-C-A |
c.5308G>T |
p.Gly1770Trp |
Missense |
20/23 |
- |
2 |
17-41203104-C-CC |
c.5310dup |
p.Pro1771Alafs*59 |
Frameshift |
20/23 |
- |
1 |
17-41203104-CC-C |
c.5310del |
p.Phe1772Serfs*21 |
Frameshift |
20/23 |
- |
1 |
17-41203106-T-C |
c.5306A>G |
p.Tyr1769Cys |
Missense |
20/23 |
- |
1 |
17-41203115-A-T |
c.5297T>A |
p.Ile1766Asn |
Missense |
20/23 |
- |
1 |
17-41203115-A-C |
c.5297T>G |
p.Ile1766Ser |
Missense |
20/23 |
- |
13 |
17-41203119-C-T |
c.5293G>A |
p.Glu1765Lys |
Missense |
20/23 |
- |
1 |
17-41203121-A-G |
c.5291T>C |
p.Leu1764Pro |
Missense |
20/23 |
- |
13 |
17-41203124-C-A |
c.5288G>T |
p.Gly1763Val |
Missense |
20/23 |
- |
2 |
17-41203127-CC-C |
c.5289del |
p.Leu1764* |
Frameshift |
20/23 |
- |
2 |
17-41203127-C-CC |
c.5289dup |
p.Leu1764Alafs*66 |
Frameshift |
20/23 |
- |
2 |
17-41203128-T-C |
c.5284A>G |
p.Arg1762Gly |
Missense |
20/23 |
- |
1 |
17-41203130-GAAGATCTG-G |
c.5278_5285del |
p.Ile1760Glyfs*67 |
SpliceAcceptorDeletion |
20/23 |
19/22 |
1 |
17-41203130-A-G |
c.5282T>C |
p.Phe1761Ser |
Missense |
20/23 |
- |
2 |
17-41203132-G-A |
c.5280C>T |
p.Ile1760Ile |
Synonymous |
20/23 |
- |
1 |
17-41203135-C-T |
c.5278-1G>A |
- |
IntronicSNV |
- |
19/22 |
3 |
17-41203135-C-A |
c.5278-1G>T |
- |
IntronicSNV |
- |
19/22 |
6 |
17-41203135-C-G |
c.5278-1G>C |
- |
IntronicSNV |
- |
19/22 |
4 |
17-41203143-AAGA-A |
c.5278-6_5278-4del |
- |
IntronicDeletion |
- |
19/22 |
1 |
17-41203148-G-C |
c.5278-14C>G |
- |
IntronicSNV |
- |
19/22 |
1 |
17-41204377-A-T |
c.5278-1243T>A |
- |
IntronicSNV |
- |
19/22 |
1 |
17-41204377-A-G |
c.5278-1243T>C |
- |
IntronicSNV |
- |
19/22 |
1 |
17-41205432-GCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATGGAGACCATCCCGTCT-G |
c.5278-2356_5278-2298del |
- |
Unclassified |
- |
19/22 |
1 |
17-41205887-TGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGATTGCGGTGAGCCAAGATCACGCC-T |
c.5278-2811_5278-2753del |
- |
SpliceDonorDeletion |
- |
19/22 |
1 |
17-41205892-CAGGAGAATCACTTGAACCCTGGAGGCAGAGATTGCGGTGAGCCAAGATCACGCCATTGT-C |
c.5278-2816_5278-2758del |
- |
SpliceDonorDeletion |
- |
19/22 |
2 |
17-41209054-G-A |
c.5277+15C>T |
- |
IntronicSNV |
- |
19/22 |
1 |
17-41209067-TACCTTT-T |
c.5277+1_5277+6del |
- |
SpliceDonorDeletion |
19/23 |
19/22 |
1 |
17-41209068-C-T |
c.5277+1G>A |
- |
IntronicSNV |
- |
19/22 |
6 |
17-41209068-C-CTA |
c.5277_5277+1insTA |
p.Ile1760* |
SpliceDonorInsertion |
- |
- |
1 |
17-41209069-CCTT-C |
c.5275_5277del |
p.Lys1759del |
InFrameDeletion |
19/23 |
- |
2 |
17-41209071-TTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACA-T |
c.5217_5275del |
p.Asp1739Glufs*71 |
InFrameDeletion |
19/23 |
- |
5 |
17-41209078-C-A |
c.5268G>T |
p.Gln1756His |
Missense |
19/23 |
- |
1 |
17-41209078-C-CG |
c.5267_5268insC |
p.Gln1756Hisfs*74 |
Frameshift |
19/23 |
- |
2 |
17-41209080-G-A |
c.5266C>T |
p.Gln1756* |
Nonsense |
19/23 |
- |
1 |
17-41209082-G-GG |
c.5266dup |
p.Gln1756Profs*74 |
Frameshift |
19/23 |
- |
197 |
17-41209085-T-A |
c.5261A>T |
p.Glu1754Val |
Missense |
19/23 |
- |
1 |
17-41209086-C-A |
c.5260G>T |
p.Glu1754* |
Nonsense |
19/23 |
- |
2 |
17-41209088-C-G |
c.5258G>C |
p.Arg1753Thr |
Missense |
19/23 |
- |
5 |
17-41209088-C-T |
c.5258G>A |
p.Arg1753Lys |
Missense |
19/23 |
- |
1 |
17-41209089-T-A |
c.5257A>T |
p.Arg1753* |
Nonsense |
19/23 |
- |
1 |
17-41209089-T-TA |
c.5256_5257insT |
p.Arg1753* |
Nonsense |
19/23 |
- |
1 |
17-41209091-GC-AG |
c.5254_5255delinsCT |
p.Ala1752Leu |
Missense |
19/23 |
- |
1 |
17-41209092-C-G |
c.5254G>C |
p.Ala1752Pro |
Missense |
19/23 |
- |
4 |
17-41209092-C-T |
c.5254G>A |
p.Ala1752Thr |
Missense |
19/23 |
- |
1 |
17-41209094-C-G |
c.5252G>C |
p.Arg1751Pro |
Missense |
19/23 |
- |
3 |
17-41209094-C-T |
c.5252G>A |
p.Arg1751Gln |
Missense |
19/23 |
- |
14 |
17-41209095-G-C |
c.5251C>G |
p.Arg1751Gly |
Missense |
19/23 |
- |
1 |
17-41209095-G-A |
c.5251C>T |
p.Arg1751* |
Nonsense |
19/23 |
- |
47 |
17-41209100-G-T |
c.5246C>A |
p.Pro1749Gln |
Missense |
19/23 |
- |
1 |
17-41209100-G-A |
c.5246C>T |
p.Pro1749Leu |
Missense |
19/23 |
- |
1 |
17-41209100-G-C |
c.5246C>G |
p.Pro1749Arg |
Missense |
19/23 |
- |
18 |
17-41209101-G-T |
c.5245C>A |
p.Pro1749Thr |
Missense |
19/23 |
- |
1 |
17-41209101-G-C |
c.5245C>G |
p.Pro1749Ala |
Missense |
19/23 |
- |
1 |
17-41209103-C-T |
c.5243G>A |
p.Gly1748Asp |
Missense |
19/23 |
- |
4 |
17-41209103-C-A |
c.5243G>T |
p.Gly1748Val |
Missense |
19/23 |
- |
1 |
17-41209104-C-T |
c.5242G>A |
p.Gly1748Ser |
Missense |
19/23 |
- |
1 |
17-41209104-C-G |
c.5242G>C |
p.Gly1748Arg |
Missense |
19/23 |
- |
1 |
17-41209104-C-A |
c.5242G>T |
p.Gly1748Cys |
Missense |
19/23 |
- |
1 |
17-41209107-G-A |
c.5239C>T |
p.Gln1747* |
Nonsense |
19/23 |
- |
2 |
17-41209108-GG-G |
c.5239del |
p.Gln1747Lysfs*18 |
Frameshift |
19/23 |
- |
1 |
17-41209109-T-G |
c.5237A>C |
p.His1746Pro |
Missense |
19/23 |
- |
1 |
17-41209110-G-T |
c.5236C>A |
p.His1746Asn |
Missense |
19/23 |
- |
2 |
17-41209110-G-A |
c.5236C>T |
p.His1746Tyr |
Missense |
19/23 |
- |
1 |
17-41209110-G-C |
c.5236C>G |
p.His1746Asp |
Missense |
19/23 |
- |
2 |
17-41209114-TT-T |
c.5234del |
p.Asn1745Thrfs*20 |
Frameshift |
19/23 |
- |
2 |
17-41209115-CT-GC |
c.5230_5231delinsGC |
p.Arg1744Ala |
Missense |
19/23 |
- |
1 |
17-41209115-CT-GA |
c.5230_5231delinsTC |
p.Arg1744Ser |
Missense |
19/23 |
- |
1 |
17-41209117-TCC-TGT |
c.5227_5228delinsAC |
p.Gly1743Thr |
Missense |
19/23 |
- |
2 |
17-41209124-A-C |
c.5222T>G |
p.Val1741Gly |
Missense |
19/23 |
- |
1 |
17-41209127-A-T |
c.5219T>A |
p.Val1740Glu |
Missense |
19/23 |
- |
1 |
17-41209129-A-C |
c.5217T>G |
p.Asp1739Glu |
Missense |
19/23 |
- |
1 |
17-41209130-T-C |
c.5216A>G |
p.Asp1739Gly |
Missense |
19/23 |
- |
2 |
17-41209130-T-A |
c.5216A>T |
p.Asp1739Val |
Missense |
19/23 |
- |
4 |
17-41209131-C-T |
c.5215G>A |
p.Asp1739Asn |
Missense |
19/23 |
- |
2 |
17-41209133-C-T |
c.5213G>A |
p.Gly1738Glu |
Missense |
19/23 |
- |
17 |
17-41209134-C-T |
c.5212G>A |
p.Gly1738Arg |
Missense |
19/23 |
- |
27 |
17-41209135-T-C |
c.5211A>G |
p.Arg1737Arg |
Synonymous |
19/23 |
- |
1 |
17-41209136-CT-GA |
c.5209_5210delinsTC |
p.Arg1737Ser |
Missense |
19/23 |
- |
1 |
17-41209136-CT-CC |
c.5209delinsG |
p.Arg1737Gly |
Missense |
19/23 |
- |
1 |
17-41209137-T-A |
c.5209A>T |
p.Arg1737* |
Nonsense |
19/23 |
- |
1 |
17-41209139-A-G |
c.5207T>C |
p.Val1736Ala |
Missense |
19/23 |
- |
24 |
17-41209139-A-C |
c.5207T>G |
p.Val1736Gly |
Missense |
19/23 |
- |
3 |
17-41209141-T-C |
c.5205A>G |
p.Glu1735Glu |
Synonymous |
19/23 |
- |
1 |
17-41209145-A-G |
c.5201T>C |
p.Phe1734Ser |
Missense |
19/23 |
- |
2 |
17-41209144-A-C |
c.5202T>G |
p.Phe1734Leu |
Missense |
19/23 |
- |
1 |
17-41209144-A-T |
c.5202T>A |
p.Phe1734Leu |
Missense |
19/23 |
- |
1 |
17-41209146-A-G |
c.5200T>C |
p.Phe1734Leu |
Missense |
19/23 |
- |
1 |
17-41209147-AA-A |
c.5202del |
p.Phe1734Leufs*31 |
Frameshift |
19/23 |
- |
1 |
17-41209148-T-C |
c.5198A>G |
p.Asp1733Gly |
Missense |
19/23 |
- |
6 |
17-41209148-TC-CG |
c.5197_5198delinsCG |
p.Asp1733Arg |
Missense |
19/23 |
- |
1 |
17-41209149-C-A |
c.5197G>T |
p.Asp1733Tyr |
Missense |
19/23 |
- |
1 |
17-41209154-T-G |
c.5194-2A>C |
- |
IntronicSNV |
- |
18/22 |
1 |
17-41209164-C-T |
c.5194-12G>A |
- |
IntronicSNV |
- |
18/22 |
4 |
17-41209177-T-G |
c.5194-25A>C |
- |
IntronicSNV |
- |
18/22 |
1 |
17-41211653-A-G |
c.5194-2501T>C |
- |
IntronicSNV |
- |
18/22 |
1 |
17-41213748-T-G |
c.5193+1602A>C |
- |
IntronicSNV |
- |
18/22 |
2 |
17-41213748-T-C |
c.5193+1602A>G |
- |
IntronicSNV |
- |
18/22 |
2 |
17-41213760-C-T |
c.5193+1590G>A |
- |
IntronicSNV |
- |
18/22 |
1 |
17-41213996-C-T |
c.5193+1354G>A |
- |
IntronicSNV |
- |
18/22 |
3 |
17-41215182-ATAGGTATGAGCCACAGTGCAGGCCTGCATAATTCTTGATGATCCTCATTATCATGGAAA-A |
c.5193+111_5193+169del |
- |
Unclassified |
- |
18/22 |
1 |
17-41215271-T-C |
c.5193+79A>G |
- |
IntronicSNV |
- |
18/22 |
1 |
17-41215348-TA-T |
c.5193+2del |
- |
IntronicDeletion |
- |
18/22 |
1 |
17-41215348-A-C |
c.5193+2T>G |
- |
IntronicSNV |
- |
18/22 |
1 |
17-41215349-C-G |
c.5193+1G>C |
- |
IntronicSNV |
- |
18/22 |
2 |
17-41215349-C-A |
c.5193+1G>T |
- |
IntronicSNV |
- |
18/22 |
1 |
17-41215349-C-T |
c.5193+1G>A |
- |
IntronicSNV |
- |
18/22 |
2 |
17-41215350-C-G |
c.5193G>C |
p.Glu1731Asp |
Missense |
18/23 |
- |
1 |
17-41215350-CC-C |
c.5193+1del |
- |
IntronicDeletion |
18/23 |
- |
1 |
17-41215354-T-C |
c.5189A>G |
p.Asn1730Ser |
Missense |
18/23 |
- |
1 |
17-41215356-C-A |
c.5187G>T |
p.Leu1729Leu |
Synonymous |
18/23 |
- |
1 |
17-41215358-G-A |
c.5185C>T |
p.Leu1729Leu |
Synonymous |
18/23 |
- |
1 |
17-41215356-C-G |
c.5187G>C |
p.Leu1729Leu |
Synonymous |
18/23 |
- |
1 |
17-41215356-C-T |
c.5187G>A |
p.Leu1729Leu |
Synonymous |
18/23 |
- |
1 |
17-41215357-A-T |
c.5186T>A |
p.Leu1729Gln |
Missense |
18/23 |
- |
1 |
17-41215364-T-A |
c.5179A>T |
p.Lys1727* |
Nonsense |
18/23 |
- |
2 |
17-41215367-T-C |
c.5176A>G |
p.Arg1726Gly |
Missense |
18/23 |
- |
1 |
17-41215368-T-C |
c.5175A>G |
p.Glu1725Glu |
Synonymous |
18/23 |
- |
1 |
17-41215369-T-TT |
c.5176dup |
p.Arg1726Lysfs*6 |
Frameshift |
18/23 |
- |
2 |
17-41215370-TCTTT-T |
c.5177_5180del |
p.Arg1726Lysfs*3 |
Frameshift |
18/23 |
- |
14 |
17-41215371-TTT-CAT |
c.5171_5172delinsTG |
p.Lys1724Met |
Missense |
18/23 |
- |
1 |
17-41215371-T-A |
c.5172A>T |
p.Lys1724Asn |
Missense |
18/23 |
- |
1 |
17-41215373-T-C |
c.5170A>G |
p.Lys1724Glu |
Missense |
18/23 |
- |
1 |
17-41215373-T-TT |
c.5172dup |
p.Glu1725Argfs*7 |
Frameshift |
18/23 |
- |
1 |
17-41215375-A-T |
c.5168T>A |
p.Ile1723Asn |
Missense |
18/23 |
- |
1 |
17-41215376-T-G |
c.5167A>C |
p.Ile1723Leu |
Missense |
18/23 |
- |
1 |
17-41215378-G-A |
c.5165C>T |
p.Ser1722Phe |
Missense |
18/23 |
- |
1 |
17-41215381-T-G |
c.5162A>C |
p.Gln1721Pro |
Missense |
18/23 |
- |
1 |
17-41215382-G-A |
c.5161C>T |
p.Gln1721* |
Nonsense |
18/23 |
- |
4 |
17-41215384-GG-G |
c.5161del |
p.Gln1721Serfs*9 |
Frameshift |
18/23 |
- |
2 |
17-41215385-T-A |
c.5158A>T |
p.Thr1720Ser |
Missense |
18/23 |
- |
1 |
17-41215385-T-C |
c.5158A>G |
p.Thr1720Ala |
Missense |
18/23 |
- |
13 |
17-41215387-CA-C |
c.5156del |
p.Val1719Glyfs*11 |
Frameshift |
18/23 |
- |
1 |
17-41215387-A-G |
c.5156T>C |
p.Val1719Ala |
Missense |
18/23 |
- |
1 |
17-41215389-C-T |
c.5154G>A |
p.Trp1718* |
Nonsense |
18/23 |
- |
5 |
17-41215389-C-A |
c.5154G>T |
p.Trp1718Cys |
Missense |
18/23 |
- |
5 |
17-41215390-C-A |
c.5153G>T |
p.Trp1718Leu |
Missense |
18/23 |
- |
1 |
17-41215390-C-G |
c.5153G>C |
p.Trp1718Ser |
Missense |
18/23 |
- |
7 |
17-41215391-C-T |
c.5153-1G>A |
- |
IntronicSNV |
- |
17/22 |
2 |
17-41215391-C-G |
c.5153-1G>C |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215392-T-G |
c.5153-2A>C |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215392-CT-C |
c.5153-2del |
- |
IntronicDeletion |
- |
17/22 |
1 |
17-41215396-G-T |
c.5153-6C>A |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215403-T-C |
c.5153-13A>G |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215416-T-C |
c.5153-26A>G |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215825-C-T |
c.5152+66G>A |
- |
IntronicSNV |
- |
17/22 |
9 |
17-41215871-A-T |
c.5152+20T>A |
- |
IntronicSNV |
- |
17/22 |
2 |
17-41215881-T-C |
c.5152+10A>G |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215886-C-T |
c.5152+5G>A |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215886-C-A |
c.5152+5G>T |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215887-T-C |
c.5152+4A>G |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215889-A-AA |
c.5152+2dup |
- |
SpliceDonorInsertion |
- |
17/22 |
1 |
17-41215889-A-C |
c.5152+2T>G |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215890-C-T |
c.5152+1G>A |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215890-C-A |
c.5152+1G>T |
- |
IntronicSNV |
- |
17/22 |
2 |
17-41215890-C-G |
c.5152+1G>C |
- |
IntronicSNV |
- |
17/22 |
1 |
17-41215891-A-C |
c.5152T>G |
p.Trp1718Gly |
Missense |
17/23 |
- |
1 |
17-41215891-A-ACT |
c.5151_5152insAG |
p.Trp1718Serfs*3 |
SpliceDonorInsertion |
17/23 |
- |
1 |
17-41215891-CAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGT-C |
c.5094_5152del |
p.Arg1699Glyfs*6 |
Unclassified |
17/23 |
- |
4 |
17-41215894-AAATA-A |
c.5147_5150del |
p.Tyr1716Serfs*3 |
Frameshift |
17/23 |
- |
1 |
17-41215896-T-C |
c.5147A>G |
p.Tyr1716Cys |
Missense |
17/23 |
- |
1 |
17-41215898-G-T |
c.5145C>A |
p.Ser1715Arg |
Missense |
17/23 |
- |
13 |
17-41215898-G-C |
c.5145C>G |
p.Ser1715Arg |
Missense |
17/23 |
- |
13 |
17-41215900-T-G |
c.5143A>C |
p.Ser1715Arg |
Missense |
17/23 |
- |
15 |
17-41215899-C-T |
c.5144G>A |
p.Ser1715Asn |
Missense |
17/23 |
- |
10 |
17-41215900-T-A |
c.5143A>T |
p.Ser1715Cys |
Missense |
17/23 |
- |
3 |
17-41215902-A-C |
c.5141T>G |
p.Val1714Gly |
Missense |
17/23 |
- |
1 |
17-41215905-A-G |
c.5138T>C |
p.Val1713Ala |
Missense |
17/23 |
- |
4 |
17-41215907-C-T |
c.5136G>A |
p.Trp1712* |
Nonsense |
17/23 |
- |
6 |
17-41215908-CC-C |
c.5137del |
p.Val1713* |
Frameshift |
17/23 |
- |
5 |
17-41215912-T-G |
c.5131A>C |
p.Lys1711Gln |
Missense |
17/23 |
- |
1 |
17-41215915-C-A |
c.5128G>T |
p.Gly1710* |
Nonsense |
17/23 |
- |
4 |
17-41215918-C-T |
c.5125G>A |
p.Gly1709Arg |
Missense |
17/23 |
- |
1 |
17-41215920-G-A |
c.5123C>T |
p.Ala1708Val |
Missense |
17/23 |
- |
6 |
17-41215920-G-T |
c.5123C>A |
p.Ala1708Glu |
Missense |
17/23 |
- |
90 |
17-41215921-C-T |
c.5122G>A |
p.Ala1708Thr |
Missense |
17/23 |
- |
1 |
17-41215921-C-A |
c.5122G>T |
p.Ala1708Ser |
Missense |
17/23 |
- |
1 |
17-41215923-AATT-A |
c.5118_5120del |
p.Ile1707del |
InFrameDeletion |
17/23 |
- |
1 |
17-41215926-C-G |
c.5117G>C |
p.Gly1706Ala |
Missense |
17/23 |
- |
18 |
17-41215926-C-T |
c.5117G>A |
p.Gly1706Glu |
Missense |
17/23 |
- |
14 |
17-41215927-C-T |
c.5116G>A |
p.Gly1706Arg |
Missense |
17/23 |
- |
2 |
17-41215931-A-C |
c.5112T>G |
p.Phe1704Leu |
Missense |
17/23 |
- |
1 |
17-41215932-A-C |
c.5111T>G |
p.Phe1704Cys |
Missense |
17/23 |
- |
1 |
17-41215932-A-T |
c.5111T>A |
p.Phe1704Tyr |
Missense |
17/23 |
- |
1 |
17-41215933-A-G |
c.5110T>C |
p.Phe1704Leu |
Missense |
17/23 |
- |
1 |
17-41215933-A-T |
c.5110T>A |
p.Phe1704Ile |
Missense |
17/23 |
- |
1 |
17-41215935-T-C |
c.5108A>G |
p.Tyr1703Cys |
Missense |
17/23 |
- |
1 |
17-41215935-T-A |
c.5108A>T |
p.Tyr1703Phe |
Missense |
17/23 |
- |
1 |
17-41215935-T-G |
c.5108A>C |
p.Tyr1703Ser |
Missense |
17/23 |
- |
1 |
17-41215937-T-G |
c.5106A>C |
p.Lys1702Asn |
Missense |
17/23 |
- |
1 |
17-41215937-T-A |
c.5106A>T |
p.Lys1702Asn |
Missense |
17/23 |
- |
1 |
17-41215938-T-G |
c.5105A>C |
p.Lys1702Thr |
Missense |
17/23 |
- |
1 |
17-41215938-TT-GC |
c.5104_5105delinsGC |
p.Lys1702Ala |
Missense |
17/23 |
- |
3 |
17-41215939-T-G |
c.5104A>C |
p.Lys1702Gln |
Missense |
17/23 |
- |
1 |
17-41215940-TCAGT-T |
c.5101_5104del |
p.Leu1701Asnfs*4 |
Frameshift |
17/23 |
- |
1 |
17-41215940-TCA-T |
c.5102_5103del |
p.Leu1701Glnfs*14 |
Frameshift |
17/23 |
- |
2 |
17-41215941-A-G |
c.5102T>C |
p.Leu1701Pro |
Missense |
17/23 |
- |
1 |
17-41215942-G-T |
c.5101C>A |
p.Leu1701Met |
Missense |
17/23 |
- |
1 |
17-41215943-T-C |
c.5100A>G |
p.Thr1700Thr |
Synonymous |
17/23 |
- |
1 |
17-41215945-GT-G |
c.5098del |
p.Thr1700Hisfs*2 |
Frameshift |
17/23 |
- |
1 |
17-41215945-T-C |
c.5098A>G |
p.Thr1700Ala |
Missense |
17/23 |
- |
4 |
17-41215946-CCG-ATC |
c.5095_5097delinsGAT |
p.Arg1699Asp |
Missense |
17/23 |
- |
1 |
17-41215946-CCG-TTT |
c.5095_5097delinsAAA |
p.Arg1699Lys |
Missense |
17/23 |
- |
1 |
17-41215946-CC-AT |
c.5096_5097delinsAT |
p.Arg1699His |
Missense |
17/23 |
- |
1 |
17-41215947-C-T |
c.5096G>A |
p.Arg1699Gln |
Missense |
17/23 |
- |
63 |
17-41215947-C-A |
c.5096G>T |
p.Arg1699Leu |
Missense |
17/23 |
- |
7 |
17-41215947-C-G |
c.5096G>C |
p.Arg1699Pro |
Missense |
17/23 |
- |
2 |
17-41215947-CG-GA |
c.5095_5096delinsTC |
p.Arg1699Ser |
Missense |
17/23 |
- |
1 |
17-41215948-CGTTC-C |
c.5093_5096del |
p.Glu1698Glyfs*3 |
Frameshift |
17/23 |
- |
1 |
17-41215948-G-C |
c.5095C>G |
p.Arg1699Gly |
Missense |
17/23 |
- |
2 |
17-41215948-G-A |
c.5095C>T |
p.Arg1699Trp |
Missense |
17/23 |
- |
76 |
17-41215950-T-G |
c.5093A>C |
p.Glu1698Ala |
Missense |
17/23 |
- |
1 |
17-41215953-C-A |
c.5090G>T |
p.Cys1697Phe |
Missense |
17/23 |
- |
1 |
17-41215953-C-T |
c.5090G>A |
p.Cys1697Tyr |
Missense |
17/23 |
- |
3 |
17-41215954-A-G |
c.5089T>C |
p.Cys1697Arg |
Missense |
17/23 |
- |
7 |
17-41215957-ACA-A |
c.5091_5092del |
p.Cys1697* |
Frameshift |
17/23 |
- |
1 |
17-41215957-C-G |
c.5086G>C |
p.Val1696Leu |
Missense |
17/23 |
- |
2 |
17-41215959-AAA-A |
c.5084_5085del |
p.Phe1695Cysfs*3 |
Frameshift |
17/23 |
- |
1 |
17-41215958-A-T |
c.5085T>A |
p.Phe1695Leu |
Missense |
17/23 |
- |
5 |
17-41215960-A-AA |
c.5085dup |
p.Val1696Cysfs*3 |
Frameshift |
17/23 |
- |
1 |
17-41215962-T-TG |
c.5080_5081insC |
p.Glu1694Alafs*5 |
Frameshift |
17/23 |
- |
1 |
17-41215963-CAGC-GCAGAATGAA |
c.5077_5080delinsTTCATTCTGC |
p.Ala1693_Glu1694delinsPheIleLeuGln |
MultiAAMissense |
17/23 |
- |
1 |
17-41215963-C-A |
c.5080G>T |
p.Glu1694* |
Nonsense |
17/23 |
- |
17 |
17-41215963-C-T |
c.5080G>A |
p.Glu1694Lys |
Missense |
17/23 |
- |
1 |
17-41215965-AGCA-A |
c.5078_5080del |
p.Ala1693del |
InFrameDeletion |
17/23 |
- |
2 |
17-41215965-G-T |
c.5078C>A |
p.Ala1693Asp |
Missense |
17/23 |
- |
1 |
17-41215965-G-GAATGA |
c.5077_5078insTCATT |
p.Ala1693Valfs*11 |
Frameshift |
17/23 |
- |
1 |
17-41215967-A-T |
c.5076T>A |
p.Asp1692Glu |
Missense |
17/23 |
- |
1 |
17-41215967-CA-C |
c.5076del |
p.Asp1692Glufs*10 |
Frameshift |
17/23 |
- |
1 |
17-41215968-T-A |
c.5075A>T |
p.Asp1692Val |
Missense |
17/23 |
- |
1 |
17-41215968-T-C |
c.5075A>G |
p.Asp1692Gly |
Missense |
17/23 |
- |
1 |
17-41215968-T-G |
c.5075A>C |
p.Asp1692Ala |
Missense |
17/23 |
- |
4 |
17-41215969-C-G |
c.5075-1G>C |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41215969-C-T |
c.5075-1G>A |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41215970-T-G |
c.5075-2A>C |
- |
IntronicSNV |
- |
16/22 |
3 |
17-41215970-T-C |
c.5075-2A>G |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41215977-T-A |
c.5075-9A>T |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41216021-G-A |
c.5075-53C>T |
- |
IntronicSNV |
- |
16/22 |
4 |
17-41216205-G-T |
c.5075-237C>A |
- |
IntronicSNV |
- |
16/22 |
5 |
17-41216206-T-C |
c.5075-238A>G |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41216972-CTGAGTAGCTGGGACTACAGATGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAC-C |
c.5075-1061_5075-1003del |
- |
Unclassified |
- |
16/22 |
1 |
17-41217874-C-T |
c.5074+1751G>A |
- |
IntronicSNV |
- |
16/22 |
2 |
17-41218747-C-T |
c.5074+878G>A |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41219283-TTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCG-T |
c.5074+284_5074+342del |
- |
Unclassified |
- |
16/22 |
1 |
17-41219341-G-T |
c.5074+284C>A |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41219551-CATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAA-C |
c.5074+16_5074+74del |
- |
Unclassified |
- |
16/22 |
1 |
17-41219560-C-A |
c.5074+65G>T |
- |
IntronicSNV |
- |
16/22 |
2 |
17-41219560-C-T |
c.5074+65G>A |
- |
IntronicSNV |
- |
16/22 |
2 |
17-41219597-A-T |
c.5074+28T>A |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41219619-G-C |
c.5074+6C>G |
- |
IntronicSNV |
- |
16/22 |
4 |
17-41219621-TATACC-T |
c.5074_5074+4del |
- |
SpliceDonorDeletion |
16/23 |
16/22 |
1 |
17-41219622-T-C |
c.5074+3A>G |
- |
IntronicSNV |
- |
16/22 |
2 |
17-41219622-T-G |
c.5074+3A>C |
- |
IntronicSNV |
- |
16/22 |
1 |
17-41219623-A-G |
c.5074+2T>C |
- |
IntronicSNV |
- |
16/22 |
2 |
17-41219624-C-A |
c.5074+1G>T |
- |
IntronicSNV |
- |
16/22 |
7 |
17-41219624-C-T |
c.5074+1G>A |
- |
IntronicSNV |
- |
16/22 |
2 |
17-41219625-C-CA |
c.5073_5074insT |
p.Asp1692* |
SpliceDonorInsertion |
16/23 |
- |
1 |
17-41219625-C-T |
c.5074G>A |
p.Asp1692Asn |
Missense |
16/23 |
- |
14 |
17-41219625-C-A |
c.5074G>T |
p.Asp1692Tyr |
Missense |
16/23 |
- |
3 |
17-41219625-C-G |
c.5074G>C |
p.Asp1692His |
Missense |
16/23 |
- |
6 |
17-41219626-T-TT |
c.5073dup |
p.Asp1692Argfs*3 |
SpliceDonorInsertion |
16/23 |
- |
2 |
17-41219626-T-G |
c.5073A>C |
p.Thr1691Thr |
Synonymous |
16/23 |
- |
3 |
17-41219626-T-C |
c.5073A>G |
p.Thr1691Thr |
Synonymous |
16/23 |
- |
3 |
17-41219626-T-A |
c.5073A>T |
p.Thr1691Thr |
Synonymous |
16/23 |
- |
3 |
17-41219627-TGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTG-T |
c.5014_5072del |
p.His1672Argfs*3 |
Unclassified |
16/23 |
- |
2 |
17-41219627-G-T |
c.5072C>A |
p.Thr1691Lys |
Missense |
16/23 |
- |
10 |
17-41219627-G-A |
c.5072C>T |
p.Thr1691Ile |
Missense |
16/23 |
- |
7 |
17-41219628-T-C |
c.5071A>G |
p.Thr1691Ala |
Missense |
16/23 |
- |
1 |
17-41219628-GTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGT-G |
c.5013_5071del |
p.Lys1671Asnfs*4 |
Unclassified |
16/23 |
- |
1 |
17-41219629-T-G |
c.5070A>C |
p.Lys1690Asn |
Missense |
16/23 |
- |
1 |
17-41219629-T-A |
c.5070A>T |
p.Lys1690Asn |
Missense |
16/23 |
- |
1 |
17-41219631-T-G |
c.5068A>C |
p.Lys1690Gln |
Missense |
16/23 |
- |
3 |
17-41219633-A-C |
c.5066T>G |
p.Met1689Arg |
Missense |
16/23 |
- |
8 |
17-41219633-A-G |
c.5066T>C |
p.Met1689Thr |
Missense |
16/23 |
- |
2 |
17-41219639-AACA-A |
c.5062_5064del |
p.Val1688del |
InFrameDeletion |
16/23 |
- |
25 |
17-41219640-AC-A |
c.5059del |
p.Val1687Leufs*3 |
Frameshift |
16/23 |
- |
2 |
17-41219641-A-T |
c.5058T>A |
p.His1686Gln |
Missense |
16/23 |
- |
1 |
17-41219643-G-A |
c.5056C>T |
p.His1686Tyr |
Missense |
16/23 |
- |
1 |
17-41219645-G-A |
c.5054C>T |
p.Thr1685Ile |
Missense |
16/23 |
- |
16 |
17-41219646-T-C |
c.5053A>G |
p.Thr1685Ala |
Missense |
16/23 |
- |
9 |
17-41219648-GT-GG |
c.5050delinsC |
p.Thr1684Pro |
Missense |
16/23 |
- |
1 |
17-41219652-C-A |
c.5047G>T |
p.Glu1683* |
Nonsense |
16/23 |
- |
3 |
17-41219652-C-G |
c.5047G>C |
p.Glu1683Gln |
Missense |
16/23 |
- |
2 |
17-41219655-C-T |
c.5044G>A |
p.Glu1682Lys |
Missense |
16/23 |
- |
7 |
17-41219661-T-C |
c.5038A>G |
p.Ile1680Val |
Missense |
16/23 |
- |
1 |
17-41219663-A-T |
c.5036T>A |
p.Leu1679Gln |
Missense |
16/23 |
- |
1 |
17-41219664-AG-A |
c.5035del |
p.Leu1679* |
Frameshift |
16/23 |
- |
2 |
17-41219665-ATT-GCTAAACTCAAGGAT |
c.5033_5034delinsTCCTTGAGTTTAGC |
p.Asn1678delinsIleLeuGluPheSer |
MultiAAMissense |
16/23 |
- |
1 |
17-41219665-GATTAG-G |
c.5035_5039del |
p.Leu1679Tyrfs*2 |
Frameshift |
16/23 |
- |
3 |
17-41219666-TT-GC |
c.5032_5033delinsGC |
p.Asn1678Ala |
Missense |
16/23 |
- |
1 |
17-41219669-AGTTA-A |
c.5030_5033del |
p.Thr1677Ilefs*2 |
Frameshift |
16/23 |
- |
21 |
17-41219673-AAA-A |
c.5026_5027del |
p.Leu1676Asnfs*2 |
Frameshift |
16/23 |
- |
1 |
17-41219674-A-C |
c.5025T>G |
p.Thr1675Thr |
Synonymous |
16/23 |
- |
1 |
17-41219674-A-G |
c.5025T>C |
p.Thr1675Thr |
Synonymous |
16/23 |
- |
1 |
17-41219674-A-T |
c.5025T>A |
p.Thr1675Thr |
Synonymous |
16/23 |
- |
1 |
17-41219674-AA-A |
c.5027del |
p.Leu1676* |
Frameshift |
16/23 |
- |
1 |
17-41219674-A-AA |
c.5027dup |
p.Leu1676Phefs*3 |
Frameshift |
16/23 |
- |
1 |
17-41219676-T-A |
c.5023A>T |
p.Thr1675Ser |
Missense |
16/23 |
- |
1 |
17-41219675-G-A |
c.5024C>T |
p.Thr1675Ile |
Missense |
16/23 |
- |
1 |
17-41219675-G-C |
c.5024C>G |
p.Thr1675Ser |
Missense |
16/23 |
- |
1 |
17-41219677-G-A |
c.5022C>T |
p.Ile1674Ile |
Synonymous |
16/23 |
- |
1 |
17-41219683-GGTG-G |
c.5017_5019del |
p.His1673del |
InFrameDeletion |
16/23 |
- |
2 |
17-41219688-T-C |
c.5011A>G |
p.Lys1671Glu |
Missense |
16/23 |
- |
1 |
17-41219690-C-T |
c.5009G>A |
p.Arg1670Lys |
Missense |
16/23 |
- |
1 |
17-41219690-CT-GA |
c.5008_5009delinsTC |
p.Arg1670Ser |
Missense |
16/23 |
- |
1 |
17-41219693-G-A |
c.5006C>T |
p.Ala1669Val |
Missense |
16/23 |
- |
2 |
17-41219694-C-A |
c.5005G>T |
p.Ala1669Ser |
Missense |
16/23 |
- |
12 |
17-41219694-C-G |
c.5005G>C |
p.Ala1669Pro |
Missense |
16/23 |
- |
1 |
17-41219697-A-G |
c.5002T>C |
p.Phe1668Leu |
Missense |
16/23 |
- |
1 |
17-41219699-T-C |
c.5000A>G |
p.Lys1667Arg |
Missense |
16/23 |
- |
1 |
17-41219700-T-TT |
c.5000dup |
p.Phe1668Valfs*11 |
Frameshift |
16/23 |
- |
1 |
17-41219701-G-T |
c.4998C>A |
p.Tyr1666* |
Nonsense |
16/23 |
- |
1 |
17-41219702-TA-GC |
c.4996_4997delinsGC |
p.Tyr1666Ala |
Missense |
16/23 |
- |
1 |
17-41219705-AC-TC |
c.4994delinsA |
p.Val1665Glu |
Missense |
16/23 |
- |
1 |
17-41219706-C-A |
c.4993G>T |
p.Val1665Leu |
Missense |
16/23 |
- |
1 |
17-41219706-C-T |
c.4993G>A |
p.Val1665Met |
Missense |
16/23 |
- |
7 |
17-41219706-C-CT |
c.4992_4993insA |
p.Val1665Serfs*14 |
Frameshift |
16/23 |
- |
2 |
17-41219707-G-A |
c.4992C>T |
p.Leu1664Leu |
Synonymous |
16/23 |
- |
1 |
17-41219708-A-G |
c.4991T>C |
p.Leu1664Pro |
Missense |
16/23 |
- |
6 |
17-41219710-C-A |
c.4989G>T |
p.Met1663Ile |
Missense |
16/23 |
- |
1 |
17-41219710-C-G |
c.4989G>C |
p.Met1663Ile |
Missense |
16/23 |
- |
1 |
17-41219710-C-T |
c.4989G>A |
p.Met1663Ile |
Missense |
16/23 |
- |
1 |
17-41219711-A-T |
c.4988T>A |
p.Met1663Lys |
Missense |
16/23 |
- |
4 |
17-41219712-T-A |
c.4987A>T |
p.Met1663Leu |
Missense |
16/23 |
- |
3 |
17-41219713-C-A |
c.4987-1G>T |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41219713-C-T |
c.4987-1G>A |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41219715-G-C |
c.4987-3C>G |
- |
IntronicSNV |
- |
15/22 |
3 |
17-41219716-A-C |
c.4987-4T>G |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41219717-A-T |
c.4987-5T>A |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41219728-A-C |
c.4987-16T>G |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41219732-T-C |
c.4987-20A>G |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41219733-C-A |
c.4987-21G>T |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41219780-T-C |
c.4987-68A>G |
- |
IntronicSNV |
- |
15/22 |
2 |
17-41219804-T-C |
c.4987-92A>G |
- |
IntronicSNV |
- |
15/22 |
3 |
17-41222723-T-C |
c.4986+222A>G |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41222939-A-C |
c.4986+6T>G |
- |
IntronicSNV |
- |
15/22 |
4 |
17-41222939-A-G |
c.4986+6T>C |
- |
IntronicSNV |
- |
15/22 |
4 |
17-41222940-C-T |
c.4986+5G>A |
- |
IntronicSNV |
- |
15/22 |
4 |
17-41222941-T-C |
c.4986+4A>G |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41222942-C-G |
c.4986+3G>C |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41222942-C-T |
c.4986+3G>A |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41222944-C-A |
c.4986+1G>T |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41222944-C-T |
c.4986+1G>A |
- |
IntronicSNV |
- |
15/22 |
1 |
17-41222946-A-G |
c.4985T>C |
p.Phe1662Ser |
Missense |
15/23 |
- |
9 |
17-41222948-TTC-AAC |
c.4982_4983delinsTT |
p.Glu1661Val |
Missense |
15/23 |
- |
1 |
17-41222949-TTCTTCTGGGGTCAGGCCAG-T |
c.4964_4982del |
p.Ser1655Tyrfs*16 |
Frameshift |
15/23 |
- |
15 |
17-41222950-C-T |
c.4981G>A |
p.Glu1661Lys |
Missense |
15/23 |
- |
1 |
17-41222950-C-A |
c.4981G>T |
p.Glu1661* |
Nonsense |
15/23 |
- |
4 |
17-41222952-T-A |
c.4979A>T |
p.Glu1660Val |
Missense |
15/23 |
- |
1 |
17-41222958-G-T |
c.4973C>A |
p.Thr1658Asn |
Missense |
15/23 |
- |
1 |
17-41222959-GT-G |
c.4972del |
p.Thr1658Profs*19 |
Frameshift |
15/23 |
- |
2 |
17-41222962-G-GAC |
c.4968_4969insGT |
p.Leu1657Valfs*2 |
Frameshift |
15/23 |
- |
1 |
17-41222964-C-G |
c.4967G>C |
p.Gly1656Ala |
Missense |
15/23 |
- |
1 |
17-41222964-C-T |
c.4967G>A |
p.Gly1656Asp |
Missense |
15/23 |
- |
3 |
17-41222965-C-G |
c.4966G>C |
p.Gly1656Arg |
Missense |
15/23 |
- |
1 |
17-41222965-C-T |
c.4966G>A |
p.Gly1656Ser |
Missense |
15/23 |
- |
1 |
17-41222967-AG-A |
c.4964del |
p.Ser1655Leufs*3 |
Frameshift |
15/23 |
- |
1 |
17-41222967-G-T |
c.4964C>A |
p.Ser1655Tyr |
Missense |
15/23 |
- |
1 |
17-41222967-G-A |
c.4964C>T |
p.Ser1655Phe |
Missense |
15/23 |
- |
20 |
17-41222968-A-C |
c.4963T>G |
p.Ser1655Ala |
Missense |
15/23 |
- |
9 |
17-41222968-A-G |
c.4963T>C |
p.Ser1655Pro |
Missense |
15/23 |
- |
3 |
17-41222968-A-T |
c.4963T>A |
p.Ser1655Thr |
Missense |
15/23 |
- |
1 |
17-41222973-A-AG |
c.4957_4958insC |
p.Val1653Alafs*26 |
Frameshift |
15/23 |
- |
2 |
17-41222974-C-A |
c.4957G>T |
p.Val1653Leu |
Missense |
15/23 |
- |
3 |
17-41222974-C-T |
c.4957G>A |
p.Val1653Met |
Missense |
15/23 |
- |
3 |
17-41222975-C-T |
c.4956G>A |
p.Met1652Ile |
Missense |
15/23 |
- |
44 |
17-41222976-AT-TG |
c.4954_4955delinsCA |
p.Met1652Gln |
Missense |
15/23 |
- |
1 |
17-41222976-A-T |
c.4955T>A |
p.Met1652Lys |
Missense |
15/23 |
- |
4 |
17-41222976-A-G |
c.4955T>C |
p.Met1652Thr |
Missense |
15/23 |
- |
10 |
17-41222980-A-G |
c.4951T>C |
p.Ser1651Pro |
Missense |
15/23 |
- |
2 |
17-41222984-TCT-AAAA |
c.4945_4947delinsTTTT |
p.Arg1649Phefs*30 |
Frameshift |
15/23 |
- |
1 |
17-41222989-TT-T |
c.4945del |
p.Arg1649Glufs*9 |
Frameshift |
15/23 |
- |
1 |
17-41222989-T-A |
c.4942A>T |
p.Lys1648* |
Nonsense |
15/23 |
- |
5 |
17-41222990-TG-T |
c.4941del |
p.Asn1647Lysfs*11 |
Frameshift |
15/23 |
- |
1 |
17-41222990-G-T |
c.4941C>A |
p.Asn1647Lys |
Missense |
15/23 |
- |
2 |
17-41222992-TTGAC-T |
c.4936_4939del |
p.Val1646Thrfs*11 |
Frameshift |
15/23 |
- |
1 |
17-41222996-C-G |
c.4935G>C |
p.Arg1645Ser |
Missense |
15/23 |
- |
1 |
17-41222997-CC-C |
c.4936del |
p.Val1646Serfs*12 |
Frameshift |
15/23 |
- |
2 |
17-41223000-TT-T |
c.4933del |
p.Arg1645Glyfs*13 |
Frameshift |
15/23 |
- |
1 |
17-41223000-T-C |
c.4931A>G |
p.Glu1644Gly |
Missense |
15/23 |
- |
3 |
17-41223001-C-A |
c.4930G>T |
p.Glu1644* |
Nonsense |
15/23 |
- |
1 |
17-41223021-G-A |
c.4910C>T |
p.Pro1637Leu |
Missense |
15/23 |
- |
8 |
17-41223028-C-A |
c.4903G>T |
p.Glu1635* |
Nonsense |
15/23 |
- |
1 |
17-41223031-T-C |
c.4900A>G |
p.Arg1634Gly |
Missense |
15/23 |
- |
3 |
17-41223036-A-C |
c.4895T>G |
p.Val1632Gly |
Missense |
15/23 |
- |
1 |
17-41223039-C-T |
c.4892G>A |
p.Ser1631Asn |
Missense |
15/23 |
- |
1 |
17-41223040-T-C |
c.4891A>G |
p.Ser1631Gly |
Missense |
15/23 |
- |
1 |
17-41223043-C-A |
c.4888G>T |
p.Glu1630* |
Nonsense |
15/23 |
- |
1 |
17-41223048-A-G |
c.4883T>C |
p.Met1628Thr |
Missense |
15/23 |
- |
24 |
17-41223049-T-C |
c.4882A>G |
p.Met1628Val |
Missense |
15/23 |
- |
5 |
17-41223051-G-C |
c.4880C>G |
p.Ala1627Gly |
Missense |
15/23 |
- |
1 |
17-41223053-ATT-TAA |
c.4876_4878delinsTTA |
p.Asn1626Leu |
Nonsense |
15/23 |
- |
1 |
17-41223060-C-CT |
c.4870_4871insA |
p.Gly1624Glufs*3 |
Frameshift |
15/23 |
- |
1 |
17-41223060-C-G |
c.4871G>C |
p.Gly1624Ala |
Missense |
15/23 |
- |
1 |
17-41223063-G-A |
c.4868C>T |
p.Ala1623Val |
Missense |
15/23 |
- |
1 |
17-41223063-G-C |
c.4868C>G |
p.Ala1623Gly |
Missense |
15/23 |
- |
10 |
17-41223069-T-C |
c.4862A>G |
p.Asp1621Gly |
Missense |
15/23 |
- |
1 |
17-41223069-AT-A |
c.4862del |
p.Asp1621Valfs*12 |
Frameshift |
15/23 |
- |
1 |
17-41223081-G-T |
c.4850C>A |
p.Ala1617Asp |
Missense |
15/23 |
- |
1 |
17-41223086-A-G |
c.4845T>C |
p.Ala1615Ala |
Synonymous |
15/23 |
- |
1 |
17-41223088-C-T |
c.4843G>A |
p.Ala1615Thr |
Missense |
15/23 |
- |
2 |
17-41223089-T-C |
c.4842A>G |
p.Pro1614Pro |
Synonymous |
15/23 |
- |
1 |
17-41223091-G-A |
c.4840C>T |
p.Pro1614Ser |
Missense |
15/23 |
- |
6 |
17-41223092-A-C |
c.4839T>G |
p.Ser1613Arg |
Missense |
15/23 |
- |
1 |
17-41223092-A-G |
c.4839T>C |
p.Ser1613Ser |
Synonymous |
15/23 |
- |
1 |
17-41223092-A-AG |
c.4838_4839insC |
p.Pro1614Serfs*8 |
Frameshift |
15/23 |
- |
1 |
17-41223094-T-C |
c.4837A>G |
p.Ser1613Gly |
Missense |
15/23 |
- |
113 |
17-41223094-T-A |
c.4837A>T |
p.Ser1613Cys |
Missense |
15/23 |
- |
35 |
17-41223100-GC-G |
c.4831del |
p.Ala1611Profs*22 |
Frameshift |
15/23 |
- |
1 |
17-41223103-A-T |
c.4828T>A |
p.Ser1610Thr |
Missense |
15/23 |
- |
1 |
17-41223105-T-C |
c.4826A>G |
p.Glu1609Gly |
Missense |
15/23 |
- |
1 |
17-41223106-C-A |
c.4825G>T |
p.Glu1609* |
Nonsense |
15/23 |
- |
1 |
17-41223115-T-C |
c.4816A>G |
p.Lys1606Glu |
Missense |
15/23 |
- |
1 |
17-41223117-A-T |
c.4814T>A |
p.Leu1605* |
Nonsense |
15/23 |
- |
1 |
17-41223119-T-C |
c.4812A>G |
p.Gln1604Gln |
Synonymous |
15/23 |
- |
1 |
17-41223121-G-A |
c.4810C>T |
p.Gln1604* |
Nonsense |
15/23 |
- |
4 |
17-41223126-AA-A |
c.4806del |
p.Gln1604Asnfs*2 |
Frameshift |
15/23 |
- |
1 |
17-41223130-T-A |
c.4801A>T |
p.Lys1601* |
Nonsense |
15/23 |
- |
5 |
17-41223138-G-A |
c.4793C>T |
p.Ser1598Phe |
Missense |
15/23 |
- |
25 |
17-41223139-A-G |
c.4792T>C |
p.Ser1598Pro |
Missense |
15/23 |
- |
1 |
17-41223154-T-A |
c.4777A>T |
p.Ile1593Leu |
Missense |
15/23 |
- |
1 |
17-41223155-G-T |
c.4776C>A |
p.Asn1592Lys |
Missense |
15/23 |
- |
1 |
17-41223169-C-A |
c.4762G>T |
p.Ala1588Ser |
Missense |
15/23 |
- |
1 |
17-41223172-A-T |
c.4759T>A |
p.Ser1587Thr |
Missense |
15/23 |
- |
1 |
17-41223174-T-C |
c.4757A>G |
p.Glu1586Gly |
Missense |
15/23 |
- |
1 |
17-41223176-CTG-C |
c.4754_4755del |
p.Pro1585Argfs*36 |
Frameshift |
15/23 |
- |
1 |
17-41223179-G-C |
c.4752C>G |
p.Ala1584Ala |
Synonymous |
15/23 |
- |
2 |
17-41223181-C-A |
c.4750G>T |
p.Ala1584Ser |
Missense |
15/23 |
- |
1 |
17-41223185-G-C |
c.4746C>G |
p.Asp1582Glu |
Missense |
15/23 |
- |
1 |
17-41223186-T-C |
c.4745A>G |
p.Asp1582Gly |
Missense |
15/23 |
- |
1 |
17-41223186-GT-G |
c.4745del |
p.Asp1582Alafs*19 |
Frameshift |
15/23 |
- |
3 |
17-41223192-G-T |
c.4739C>A |
p.Ser1580Tyr |
Missense |
15/23 |
- |
1 |
17-41223192-G-A |
c.4739C>T |
p.Ser1580Phe |
Missense |
15/23 |
- |
1 |
17-41223194-AAGGA-A |
c.4736_4739del |
p.Pro1579Leufs*21 |
Frameshift |
15/23 |
- |
2 |
17-41223201-G-T |
c.4730C>A |
p.Ser1577Tyr |
Missense |
15/23 |
- |
2 |
17-41223202-A-G |
c.4729T>C |
p.Ser1577Pro |
Missense |
15/23 |
- |
3 |
17-41223207-G-T |
c.4724C>A |
p.Pro1575His |
Missense |
15/23 |
- |
1 |
17-41223209-GG-G |
c.4724del |
p.Pro1575Leufs*26 |
Frameshift |
15/23 |
- |
1 |
17-41223215-AGA-GAG |
c.4714_4716delinsCTC |
p.Ser1572Leu |
Missense |
15/23 |
- |
1 |
17-41223217-A-C |
c.4714T>G |
p.Ser1572Ala |
Missense |
15/23 |
- |
1 |
17-41223219-GAAGAG-G |
c.4712_4716del |
p.Phe1571* |
Frameshift |
15/23 |
- |
1 |
17-41223219-A-G |
c.4712T>C |
p.Phe1571Ser |
Missense |
15/23 |
- |
1 |
17-41223220-AA-A |
c.4712del |
p.Phe1571Serfs*30 |
Frameshift |
15/23 |
- |
2 |
17-41223225-C-CGATTCCA |
c.4705_4706insTGGAATC |
p.Ser1569Metfs*7 |
Frameshift |
15/23 |
- |
1 |
17-41223227-G-C |
c.4704C>G |
p.Ile1568Met |
Missense |
15/23 |
- |
1 |
17-41223232-C-A |
c.4699G>T |
p.Gly1567* |
Nonsense |
15/23 |
- |
1 |
17-41223234-GA-GG |
c.4696delinsC |
p.Ser1566Pro |
Missense |
15/23 |
- |
2 |
17-41223237-T-TT |
c.4695dup |
p.Ser1566Ilefs*8 |
Frameshift |
15/23 |
- |
1 |
17-41223240-A-G |
c.4691T>C |
p.Leu1564Pro |
Missense |
15/23 |
- |
9 |
17-41223242-G-C |
c.4689C>G |
p.Tyr1563* |
Nonsense |
15/23 |
- |
16 |
17-41223249-GT-GG |
c.4681delinsC |
p.Thr1561Pro |
Missense |
15/23 |
- |
1 |
17-41223249-G-A |
c.4682C>T |
p.Thr1561Ile |
Missense |
15/23 |
- |
6 |
17-41223252-C-T |
c.4679G>A |
p.Gly1560Glu |
Missense |
15/23 |
- |
1 |
17-41223253-CCC-C |
c.4678_4679del |
p.Gly1560Asnfs*13 |
Frameshift |
15/23 |
- |
1 |
17-41223256-C-T |
c.4676-1G>A |
- |
IntronicSNV |
- |
14/22 |
1 |
17-41223256-C-A |
c.4676-1G>T |
- |
IntronicSNV |
- |
14/22 |
2 |
17-41223262-G-A |
c.4676-7C>T |
- |
IntronicSNV |
- |
14/22 |
2 |
17-41223263-G-C |
c.4676-8C>G |
- |
IntronicSNV |
- |
14/22 |
1 |
17-41223275-T-C |
c.4676-20A>G |
- |
IntronicSNV |
- |
14/22 |
1 |
17-41223541-T-TGTTCACTGTAACAATGCTTGTAAT |
c.4676-284_4676-283insACAAGCATTGTTACAGTGAACATT |
- |
IntronicInsertion |
- |
14/22 |
1 |
17-41226345-T-C |
c.4675+3A>G |
- |
IntronicSNV |
- |
14/22 |
1 |
17-41226345-T-A |
c.4675+3A>T |
- |
IntronicSNV |
- |
14/22 |
1 |
17-41226347-C-T |
c.4675+1G>A |
- |
IntronicSNV |
- |
14/22 |
10 |
17-41226348-C-T |
c.4675G>A |
p.Glu1559Lys |
Missense |
14/23 |
- |
11 |
17-41226348-C-A |
c.4675G>T |
p.Glu1559* |
Nonsense |
14/23 |
- |
2 |
17-41226348-C-G |
c.4675G>C |
p.Glu1559Gln |
Missense |
14/23 |
- |
3 |
17-41226349-CTAG-C |
c.4672_4674del |
p.Leu1558del |
InFrameDeletion |
14/23 |
- |
1 |
17-41226353-ATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTG-A |
c.4612_4670del |
p.Gln1538Serfs*16 |
Unclassified |
14/23 |
- |
1 |
17-41226359-CC-C |
c.4665del |
p.Arg1555Serfs*4 |
Frameshift |
14/23 |
- |
1 |
17-41226361-TT-T |
c.4663del |
p.Arg1555Glyfs*4 |
Frameshift |
14/23 |
- |
2 |
17-41226361-T-A |
c.4662A>T |
p.Pro1554Pro |
Synonymous |
14/23 |
- |
1 |
17-41226367-G-C |
c.4656C>G |
p.Tyr1552* |
Nonsense |
14/23 |
- |
2 |
17-41226368-T-TT |
c.4655dup |
p.Tyr1552* |
Nonsense |
14/23 |
- |
1 |
17-41226368-T-A |
c.4655A>T |
p.Tyr1552Phe |
Missense |
14/23 |
- |
1 |
17-41226369-A-G |
c.4654T>C |
p.Tyr1552His |
Missense |
14/23 |
- |
1 |
17-41226374-G-A |
c.4649C>T |
p.Thr1550Ile |
Missense |
14/23 |
- |
1 |
17-41226376-TT-TTTT |
c.4647_4648dup |
p.Thr1550Lysfs*10 |
Frameshift |
14/23 |
- |
1 |
17-41226385-A-T |
c.4638T>A |
p.Asp1546Glu |
Missense |
14/23 |
- |
1 |
17-41226385-A-C |
c.4638T>G |
p.Asp1546Glu |
Missense |
14/23 |
- |
1 |
17-41226387-C-A |
c.4636G>T |
p.Asp1546Tyr |
Missense |
14/23 |
- |
3 |
17-41226387-C-T |
c.4636G>A |
p.Asp1546Asn |
Missense |
14/23 |
- |
7 |
17-41226398-AGA-A |
c.4625_4626del |
p.Ser1542Trpfs*31 |
Frameshift |
14/23 |
- |
1 |
17-41226398-G-C |
c.4625C>G |
p.Ser1542Cys |
Missense |
14/23 |
- |
2 |
17-41226399-A-C |
c.4624T>G |
p.Ser1542Ala |
Missense |
14/23 |
- |
1 |
17-41226402-C-A |
c.4621G>T |
p.Glu1541* |
Nonsense |
14/23 |
- |
1 |
17-41226405-C-A |
c.4618G>T |
p.Glu1540* |
Nonsense |
14/23 |
- |
2 |
17-41226411-G-A |
c.4612C>T |
p.Gln1538* |
Nonsense |
14/23 |
- |
4 |
17-41226411-G-GC |
c.4611_4612insG |
p.Gln1538Alafs*36 |
Frameshift |
14/23 |
- |
1 |
17-41226420-C-A |
c.4603G>T |
p.Glu1535* |
Nonsense |
14/23 |
- |
4 |
17-41226423-C-T |
c.4600G>A |
p.Val1534Met |
Missense |
14/23 |
- |
7 |
17-41226425-ATC-A |
c.4597_4598del |
p.Asp1533Cysfs*40 |
Frameshift |
14/23 |
- |
1 |
17-41226428-A-AGA |
c.4595_4596insCT |
p.Asp1533Leufs*16 |
Frameshift |
14/23 |
- |
1 |
17-41226438-T-C |
c.4585A>G |
p.Ile1529Val |
Missense |
14/23 |
- |
1 |
17-41226443-T-A |
c.4580A>T |
p.Glu1527Val |
Missense |
14/23 |
- |
1 |
17-41226448-CTT-C |
c.4574_4575del |
p.Gln1525Argfs*5 |
Frameshift |
14/23 |
- |
1 |
17-41226449-TT-T |
c.4575del |
p.Glu1526Argfs*22 |
Frameshift |
14/23 |
- |
2 |
17-41226452-G-T |
c.4571C>A |
p.Ser1524Tyr |
Missense |
14/23 |
- |
1 |
17-41226453-A-C |
c.4570T>G |
p.Ser1524Ala |
Missense |
14/23 |
- |
10 |
17-41226457-G-C |
c.4566C>G |
p.Tyr1522* |
Nonsense |
14/23 |
- |
1 |
17-41226457-G-T |
c.4566C>A |
p.Tyr1522* |
Nonsense |
14/23 |
- |
1 |
17-41226467-T-C |
c.4556A>G |
p.Asn1519Ser |
Missense |
14/23 |
- |
1 |
17-41226471-G-A |
c.4552C>T |
p.Gln1518* |
Nonsense |
14/23 |
- |
1 |
17-41226488-C-A |
c.4535G>T |
p.Ser1512Ile |
Missense |
14/23 |
- |
24 |
17-41226489-T-G |
c.4534A>C |
p.Ser1512Arg |
Missense |
14/23 |
- |
1 |
17-41226492-G-A |
c.4531C>T |
p.His1511Tyr |
Missense |
14/23 |
- |
1 |
17-41226493-C-A |
c.4530G>T |
p.Met1510Ile |
Missense |
14/23 |
- |
1 |
17-41226496-G-A |
c.4527C>T |
p.Tyr1509Tyr |
Synonymous |
14/23 |
- |
1 |
17-41226499-C-T |
c.4524G>A |
p.Trp1508* |
Nonsense |
14/23 |
- |
10 |
17-41226502-CCT-TTT |
c.4520_4521delinsAA |
p.Arg1507Lys |
Missense |
14/23 |
- |
1 |
17-41226503-C-G |
c.4520G>C |
p.Arg1507Thr |
Missense |
14/23 |
- |
1 |
17-41226507-TC-T |
c.4516del |
p.Asp1506Ilefs*42 |
Frameshift |
14/23 |
- |
2 |
17-41226515-G-T |
c.4508C>A |
p.Ser1503* |
Nonsense |
14/23 |
- |
6 |
17-41226519-G-A |
c.4504C>T |
p.Pro1502Ser |
Missense |
14/23 |
- |
1 |
17-41226520-G-T |
c.4503C>A |
p.Cys1501* |
Nonsense |
14/23 |
- |
1 |
17-41226534-A-C |
c.4489T>G |
p.Ser1497Ala |
Missense |
14/23 |
- |
6 |
17-41226536-G-T |
c.4487C>A |
p.Ser1496* |
Nonsense |
14/23 |
- |
2 |
17-41226536-TG-T |
c.4487del |
p.Ser1496Tyrfs*9 |
Frameshift |
14/23 |
- |
2 |
17-41226539-C-T |
c.4485-1G>A |
- |
IntronicSNV |
- |
13/22 |
2 |
17-41226539-C-A |
c.4485-1G>T |
- |
IntronicSNV |
- |
13/22 |
1 |
17-41226540-T-C |
c.4485-2A>G |
- |
IntronicSNV |
- |
13/22 |
1 |
17-41226540-T-G |
c.4485-2A>C |
- |
IntronicSNV |
- |
13/22 |
2 |
17-41226546-G-A |
c.4485-8C>T |
- |
IntronicSNV |
- |
13/22 |
1 |
17-41226601-G-C |
c.4485-63C>G |
- |
IntronicSNV |
- |
13/22 |
3 |
17-41226675-A-T |
c.4485-137T>A |
- |
IntronicSNV |
- |
13/22 |
1 |
17-41226886-CCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAA-C |
c.4485-406_4485-348del |
- |
Unclassified |
- |
13/22 |
1 |
17-41228491-T-C |
c.4484+14A>G |
- |
IntronicSNV |
- |
13/22 |
1 |
17-41228502-T-C |
c.4484+3A>G |
- |
IntronicSNV |
- |
13/22 |
1 |
17-41228504-C-A |
c.4484+1G>T |
- |
IntronicSNV |
- |
13/22 |
1 |
17-41228504-C-T |
c.4484+1G>A |
- |
IntronicSNV |
- |
13/22 |
6 |
17-41228505-CC-C |
c.4484+1del |
- |
IntronicDeletion |
13/23 |
- |
1 |
17-41228505-C-T |
c.4484G>A |
p.Arg1495Lys |
Missense |
13/23 |
- |
8 |
17-41228505-C-G |
c.4484G>C |
p.Arg1495Thr |
Missense |
13/23 |
- |
5 |
17-41228505-C-A |
c.4484G>T |
p.Arg1495Met |
Missense |
13/23 |
- |
27 |
17-41228509-C-A |
c.4480G>T |
p.Glu1494* |
Nonsense |
13/23 |
- |
1 |
17-41228518-G-C |
c.4471C>G |
p.Pro1491Ala |
Missense |
13/23 |
- |
1 |
17-41228523-T-C |
c.4466A>G |
p.Lys1489Arg |
Missense |
13/23 |
- |
1 |
17-41228524-T-C |
c.4465A>G |
p.Lys1489Glu |
Missense |
13/23 |
- |
1 |
17-41228528-TTTTA-T |
c.4458_4461del |
p.Ser1486Argfs*18 |
Frameshift |
13/23 |
- |
1 |
17-41228529-T-C |
c.4460A>G |
p.Lys1487Arg |
Missense |
13/23 |
- |
5 |
17-41228533-T-A |
c.4456A>T |
p.Ser1486Cys |
Missense |
13/23 |
- |
1 |
17-41228544-T-G |
c.4445A>C |
p.Asp1482Ala |
Missense |
13/23 |
- |
1 |
17-41228555-C-G |
c.4434G>C |
p.Glu1478Asp |
Missense |
13/23 |
- |
1 |
17-41228555-C-A |
c.4434G>T |
p.Glu1478Asp |
Missense |
13/23 |
- |
1 |
17-41228572-A-C |
c.4417T>G |
p.Ser1473Ala |
Missense |
13/23 |
- |
1 |
17-41228578-CC-C |
c.4412del |
p.Gly1471Alafs*34 |
Frameshift |
13/23 |
- |
1 |
17-41228579-T-A |
c.4410A>T |
p.Glu1470Asp |
Missense |
13/23 |
- |
2 |
17-41228581-C-A |
c.4408G>T |
p.Glu1470* |
Nonsense |
13/23 |
- |
1 |
17-41228583-G-T |
c.4406C>A |
p.Pro1469Gln |
Missense |
13/23 |
- |
1 |
17-41228587-T-G |
c.4402A>C |
p.Asn1468His |
Missense |
13/23 |
- |
3 |
17-41228590-G-A |
c.4399C>T |
p.Gln1467* |
Nonsense |
13/23 |
- |
1 |
17-41228591-GG-G |
c.4399del |
p.Gln1467Argfs*38 |
Frameshift |
13/23 |
- |
1 |
17-41228591-G-T |
c.4398C>A |
p.Ser1466Arg |
Missense |
13/23 |
- |
1 |
17-41228592-CT-GC |
c.4396_4397delinsGC |
p.Ser1466Ala |
Missense |
13/23 |
- |
1 |
17-41228596-T-G |
c.4393A>C |
p.Ile1465Leu |
Missense |
13/23 |
- |
1 |
17-41228600-GG-G |
c.4391del |
p.Pro1464Leufs*2 |
Frameshift |
13/23 |
- |
1 |
17-41228600-G-T |
c.4389C>A |
p.Tyr1463* |
Nonsense |
13/23 |
- |
2 |
17-41228604-TT-T |
c.4386del |
p.Glu1462Aspfs*4 |
Frameshift |
13/23 |
- |
1 |
17-41228605-C-A |
c.4384G>T |
p.Glu1462* |
Nonsense |
13/23 |
- |
3 |
17-41228614-T-A |
c.4375A>T |
p.Lys1459* |
Nonsense |
13/23 |
- |
1 |
17-41228616-T-A |
c.4373A>T |
p.Gln1458Leu |
Missense |
13/23 |
- |
1 |
17-41228617-G-A |
c.4372C>T |
p.Gln1458* |
Nonsense |
13/23 |
- |
6 |
17-41228620-A-C |
c.4369T>G |
p.Ser1457Ala |
Missense |
13/23 |
- |
5 |
17-41228628-A-AA |
c.4361dup |
p.Leu1455Ilefs*7 |
Frameshift |
13/23 |
- |
1 |
17-41228628-A-G |
c.4361T>C |
p.Val1454Ala |
Missense |
13/23 |
- |
2 |
17-41228630-CTG-C |
c.4358_4359del |
p.Ala1453Glyfs*8 |
SpliceAcceptorDeletion |
13/23 |
- |
1 |
17-41228631-TGCT-T |
c.4358_4360del |
p.Ala1453del |
SpliceAcceptorDeletion |
13/23 |
12/22 |
1 |
17-41230524-T-G |
c.4358-1893A>C |
- |
IntronicSNV |
- |
12/22 |
5 |
17-41231516-C-T |
c.4358-2885G>A |
- |
IntronicSNV |
- |
12/22 |
1 |
17-41232404-GTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGC-G |
c.4357+1959_4357+2017del |
- |
Unclassified |
- |
12/22 |
2 |
17-41234304-C-T |
c.4357+117G>A |
- |
IntronicSNV |
- |
12/22 |
19 |
17-41234399-G-A |
c.4357+22C>T |
- |
IntronicSNV |
- |
12/22 |
1 |
17-41234419-A-C |
c.4357+2T>G |
- |
IntronicSNV |
- |
12/22 |
4 |
17-41234420-C-G |
c.4357+1G>C |
- |
IntronicSNV |
- |
12/22 |
2 |
17-41234420-C-A |
c.4357+1G>T |
- |
IntronicSNV |
- |
12/22 |
3 |
17-41234420-C-T |
c.4357+1G>A |
- |
IntronicSNV |
- |
12/22 |
7 |
17-41234424-TTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATG-T |
c.4296_4354del |
p.Ile1433Serfs*9 |
Unclassified |
12/23 |
- |
1 |
17-41234424-T-TA |
c.4353_4354insT |
p.Lys1452* |
Nonsense |
12/23 |
- |
1 |
17-41234435-GC-G |
c.4343del |
p.Ser1448Thrfs*8 |
Frameshift |
12/23 |
- |
1 |
17-41234436-T-C |
c.4342A>G |
p.Ser1448Gly |
Missense |
12/23 |
- |
3 |
17-41234439-G-A |
c.4339C>T |
p.Gln1447* |
Nonsense |
12/23 |
- |
1 |
17-41234450-C-T |
c.4328G>A |
p.Arg1443Gln |
Missense |
12/23 |
- |
2 |
17-41234451-CGCAGGTC-C |
c.4323_4329del |
p.Asp1441Glufs*13 |
Frameshift |
12/23 |
- |
1 |
17-41234451-G-C |
c.4327C>G |
p.Arg1443Gly |
Missense |
12/23 |
- |
10 |
17-41234451-G-A |
c.4327C>T |
p.Arg1443* |
Nonsense |
12/23 |
- |
71 |
17-41234463-G-A |
c.4315C>T |
p.Leu1439Phe |
Missense |
12/23 |
- |
1 |
17-41234470-A-G |
c.4308T>C |
p.Ser1436Ser |
Synonymous |
12/23 |
- |
50 |
17-41234470-AA-A |
c.4309del |
p.Ser1437Leufs*19 |
Frameshift |
12/23 |
- |
1 |
17-41234472-GAG-G |
c.4307_4308del |
p.Ser1436Phefs*4 |
Frameshift |
12/23 |
- |
1 |
17-41234479-T-C |
c.4299A>G |
p.Ile1433Met |
Missense |
12/23 |
- |
1 |
17-41234491-G-T |
c.4287C>A |
p.Tyr1429* |
Nonsense |
12/23 |
- |
3 |
17-41234492-T-TC |
c.4285_4286insG |
p.Tyr1429* |
Nonsense |
12/23 |
- |
1 |
17-41234494-GCT-TGA |
c.4282_4284delinsTCA |
p.Ser1428Ser |
Nonsense |
12/23 |
- |
1 |
17-41234508-G-A |
c.4270C>T |
p.Gln1424* |
Nonsense |
12/23 |
- |
1 |
17-41234511-T-G |
c.4267A>C |
p.Ser1423Arg |
Missense |
12/23 |
- |
1 |
17-41234509-G-T |
c.4269C>A |
p.Ser1423Arg |
Missense |
12/23 |
- |
1 |
17-41234509-G-C |
c.4269C>G |
p.Ser1423Arg |
Missense |
12/23 |
- |
1 |
17-41234510-C-T |
c.4268G>A |
p.Ser1423Asn |
Missense |
12/23 |
- |
1 |
17-41234510-CT-GA |
c.4267_4268delinsTC |
p.Ser1423Ser |
Missense |
12/23 |
- |
1 |
17-41234510-CT-GC |
c.4267_4268delinsGC |
p.Ser1423Ala |
Missense |
12/23 |
- |
16 |
17-41234513-C-T |
c.4265G>A |
p.Gly1422Glu |
Missense |
12/23 |
- |
1 |
17-41234516-T-C |
c.4262A>G |
p.His1421Arg |
Missense |
12/23 |
- |
1 |
17-41234517-G-A |
c.4261C>T |
p.His1421Tyr |
Missense |
12/23 |
- |
7 |
17-41234520-G-A |
c.4258C>T |
p.Gln1420* |
Nonsense |
12/23 |
- |
2 |
17-41234523-C-A |
c.4255G>T |
p.Glu1419* |
Nonsense |
12/23 |
- |
1 |
17-41234523-C-G |
c.4255G>C |
p.Glu1419Gln |
Missense |
12/23 |
- |
4 |
17-41234525-A-C |
c.4253T>G |
p.Leu1418* |
Nonsense |
12/23 |
- |
1 |
17-41234525-A-T |
c.4253T>A |
p.Leu1418* |
Nonsense |
12/23 |
- |
1 |
17-41234526-AA-A |
c.4253del |
p.Leu1418* |
Frameshift |
12/23 |
- |
1 |
17-41234535-C-A |
c.4243G>T |
p.Glu1415* |
Nonsense |
12/23 |
- |
1 |
17-41234537-AG-GC |
c.4240_4241delinsGC |
p.Leu1414Ala |
Missense |
12/23 |
- |
1 |
17-41234538-G-GG |
c.4240dup |
p.Leu1414Profs*14 |
Frameshift |
12/23 |
- |
2 |
17-41234540-TT-T |
c.4239del |
p.Glu1413Aspfs*2 |
Frameshift |
12/23 |
- |
1 |
17-41234540-T-C |
c.4238A>G |
p.Glu1413Gly |
Missense |
12/23 |
- |
1 |
17-41234546-A-G |
c.4232T>C |
p.Met1411Thr |
Missense |
12/23 |
- |
8 |
17-41234550-C-A |
c.4228G>T |
p.Glu1410* |
Nonsense |
12/23 |
- |
1 |
17-41234551-CC-C |
c.4228del |
p.Glu1410Lysfs*5 |
Frameshift |
12/23 |
- |
1 |
17-41234553-G-A |
c.4225C>T |
p.Gln1409* |
Nonsense |
12/23 |
- |
1 |
17-41234555-T-C |
c.4223A>G |
p.Gln1408Arg |
Missense |
12/23 |
- |
1 |
17-41234556-G-A |
c.4222C>T |
p.Gln1408* |
Nonsense |
12/23 |
- |
3 |
17-41234557-GG-G |
c.4222del |
p.Gln1408Serfs*7 |
Frameshift |
12/23 |
- |
1 |
17-41234558-AG-GC |
c.4219_4220delinsGC |
p.Leu1407Ala |
Missense |
12/23 |
- |
1 |
17-41234558-A-G |
c.4220T>C |
p.Leu1407Pro |
Missense |
12/23 |
- |
17 |
17-41234561-T-C |
c.4217A>G |
p.Lys1406Arg |
Missense |
12/23 |
- |
1 |
17-41234565-T-C |
c.4213A>G |
p.Ile1405Val |
Missense |
12/23 |
- |
5 |
17-41234567-A-G |
c.4211T>C |
p.Leu1404Pro |
Missense |
12/23 |
- |
1 |
17-41234571-T-G |
c.4207A>C |
p.Asn1403His |
Missense |
12/23 |
- |
1 |
17-41234574-G-A |
c.4204C>T |
p.His1402Tyr |
Missense |
12/23 |
- |
9 |
17-41234578-C-G |
c.4200G>C |
p.Met1400Ile |
Missense |
12/23 |
- |
1 |
17-41234578-C-T |
c.4200G>A |
p.Met1400Ile |
Missense |
12/23 |
- |
1 |
17-41234578-C-A |
c.4200G>T |
p.Met1400Ile |
Missense |
12/23 |
- |
1 |
17-41234579-A-C |
c.4199T>G |
p.Met1400Arg |
Missense |
12/23 |
- |
1 |
17-41234580-T-C |
c.4198A>G |
p.Met1400Val |
Missense |
12/23 |
- |
5 |
17-41234592-TGCT-T |
c.4186_4188del |
p.Gln1396del |
SpliceAcceptorDeletion |
12/23 |
11/22 |
1 |
17-41234592-G-A |
c.4186C>T |
p.Gln1396* |
Nonsense |
12/23 |
- |
1 |
17-41234614-C-T |
c.4186-22G>A |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41235799-G-A |
c.4186-1207C>T |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41236614-G-A |
c.4186-2022C>T |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41237953-G-A |
c.4186-3361C>T |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41238619-C-T |
c.4186-4027G>A |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41239346-AGAATCCCATATAGTAATTAAAAATGAAGTCACTTAAGAATTTTAACGACCCAGGCTGAG-A |
c.4185+3557_4185+3615del |
- |
SpliceDonorDeletion |
- |
11/22 |
1 |
17-41240277-T-C |
c.4185+2684A>G |
- |
IntronicSNV |
- |
11/22 |
5 |
17-41241390-C-A |
c.4185+1571G>T |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41241503-T-C |
c.4185+1458A>G |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41242849-G-T |
c.4185+112C>A |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41242940-CACACACACACACGCTTTTTAC-C |
c.4185+2_4185+22del |
- |
IntronicDeletion |
- |
11/22 |
1 |
17-41242951-C-G |
c.4185+10G>C |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41242952-G-A |
c.4185+9C>T |
- |
IntronicSNV |
- |
11/22 |
2 |
17-41242958-T-C |
c.4185+3A>G |
- |
IntronicSNV |
- |
11/22 |
2 |
17-41242959-A-G |
c.4185+2T>C |
- |
IntronicSNV |
- |
11/22 |
1 |
17-41242959-TACCT-T |
c.4185_4185+3del |
- |
SpliceDonorDeletion |
11/23 |
11/22 |
1 |
17-41242960-C-T |
c.4185+1G>A |
- |
IntronicSNV |
- |
11/22 |
2 |
17-41242960-C-A |
c.4185+1G>T |
- |
IntronicSNV |
- |
11/22 |
2 |
17-41242961-C-T |
c.4185G>A |
p.Gln1395Gln |
Synonymous |
11/23 |
- |
7 |
17-41242962-T-C |
c.4184A>G |
p.Gln1395Arg |
Missense |
11/23 |
- |
1 |
17-41242963-G-A |
c.4183C>T |
p.Gln1395* |
Nonsense |
11/23 |
- |
12 |
17-41242965-GT-GG |
c.4180delinsC |
p.Thr1394Pro |
Missense |
11/23 |
- |
1 |
17-41242965-G-A |
c.4181C>T |
p.Thr1394Ile |
Missense |
11/23 |
- |
1 |
17-41242974-A-G |
c.4172T>C |
p.Ile1391Thr |
Missense |
11/23 |
- |
2 |
17-41242975-AT-A |
c.4171del |
p.Ile1391Phefs*2 |
Frameshift |
11/23 |
- |
1 |
17-41242981-T-TA |
c.4164_4165insT |
p.Ser1389* |
Nonsense |
11/23 |
- |
1 |
17-41242982-TCT-T |
c.4165_4166del |
p.Ser1389* |
Frameshift |
11/23 |
- |
5 |
17-41242984-G-A |
c.4162C>T |
p.Gln1388* |
Nonsense |
11/23 |
- |
1 |
17-41242986-AGAGGA-A |
c.4158_4162del |
p.Ser1387Glufs*2 |
Frameshift |
11/23 |
- |
3 |
17-41242987-GAG-G |
c.4161_4162del |
p.Gln1388Glufs*2 |
Frameshift |
11/23 |
- |
3 |
17-41242987-A-G |
c.4159T>C |
p.Ser1387Pro |
Missense |
11/23 |
- |
1 |
17-41242987-A-C |
c.4159T>G |
p.Ser1387Ala |
Missense |
11/23 |
- |
7 |
17-41242991-T-A |
c.4155A>T |
p.Leu1385Leu |
Synonymous |
11/23 |
- |
1 |
17-41242991-T-C |
c.4155A>G |
p.Leu1385Leu |
Synonymous |
11/23 |
- |
1 |
17-41242991-T-G |
c.4155A>C |
p.Leu1385Leu |
Synonymous |
11/23 |
- |
1 |
17-41242993-G-A |
c.4153C>T |
p.Leu1385Leu |
Synonymous |
11/23 |
- |
1 |
17-41242992-TAG-T |
c.4153_4154del |
p.Leu1385Ilefs*5 |
Frameshift |
11/23 |
- |
1 |
17-41242996-C-A |
c.4150G>T |
p.Gly1384Trp |
Missense |
11/23 |
- |
1 |
17-41242998-G-C |
c.4148C>G |
p.Ser1383* |
Nonsense |
11/23 |
- |
3 |
17-41243001-GC-G |
c.4145del |
p.Cys1382Serfs*11 |
Frameshift |
11/23 |
- |
1 |
17-41243012-AGA-A |
c.4136_4137del |
p.Ser1379* |
Frameshift |
11/23 |
- |
3 |
17-41243014-C-T |
c.4132G>A |
p.Val1378Ile |
Missense |
11/23 |
- |
3 |
17-41243016-GCT-G |
c.4129_4130del |
p.Ser1377Argfs*3 |
Frameshift |
11/23 |
- |
1 |
17-41243017-T-A |
c.4129A>T |
p.Ser1377Cys |
Missense |
11/23 |
- |
1 |
17-41243019-TG-T |
c.4127del |
p.Thr1376Lysfs*17 |
Frameshift |
11/23 |
- |
1 |
17-41243024-CAC-C |
c.4122_4123del |
p.Ser1374Argfs*6 |
Frameshift |
11/23 |
- |
4 |
17-41243028-CTC-C |
c.4120_4121del |
p.Ser1374* |
Frameshift |
11/23 |
- |
1 |
17-41243029-C-A |
c.4117G>T |
p.Glu1373* |
Nonsense |
11/23 |
- |
14 |
17-41243031-C-T |
c.4115G>A |
p.Cys1372Tyr |
Missense |
11/23 |
- |
1 |
17-41243035-CC-C |
c.4113del |
p.Cys1372Valfs*21 |
Frameshift |
11/23 |
- |
1 |
17-41243035-C-T |
c.4111G>A |
p.Gly1371Arg |
Missense |
11/23 |
- |
1 |
17-41243038-GA-G |
c.4108del |
p.Ser1370Leufs*23 |
Frameshift |
11/23 |
- |
1 |
17-41243043-G-A |
c.4103C>T |
p.Ala1368Val |
Missense |
11/23 |
- |
2 |
17-41243047-C-A |
c.4099G>T |
p.Glu1367* |
Nonsense |
11/23 |
- |
1 |
17-41243049-C-T |
c.4097G>A |
p.Gly1366Asp |
Missense |
11/23 |
- |
1 |
17-41243050-C-T |
c.4097-1G>A |
- |
IntronicSNV |
- |
10/22 |
2 |
17-41243051-T-C |
c.4097-2A>G |
- |
IntronicSNV |
- |
10/22 |
3 |
17-41243060-A-G |
c.4097-11T>C |
- |
IntronicSNV |
- |
10/22 |
1 |
17-41243190-T-G |
c.4097-141A>C |
- |
IntronicSNV |
- |
10/22 |
3 |
17-41243190-T-A |
c.4097-141A>T |
- |
IntronicSNV |
- |
10/22 |
2 |
17-41243449-T-C |
c.4096+3A>G |
- |
IntronicSNV |
- |
10/22 |
5 |
17-41243451-C-T |
c.4096+1G>A |
- |
IntronicSNV |
- |
10/22 |
4 |
17-41243452-CCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTT-C |
c.4038_4096del |
p.Arg1347* |
SpliceDonorDeletion |
10/23 |
- |
1 |
17-41243453-CTAA-C |
c.4093_4095del |
p.Leu1365del |
InFrameDeletion |
10/23 |
- |
1 |
17-41243454-TAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTC-T |
c.4036_4094del |
p.Glu1346Argfs*2 |
Unclassified |
10/23 |
- |
1 |
17-41243455-A-C |
c.4093T>G |
p.Leu1365Val |
Missense |
10/23 |
- |
1 |
17-41243455-AA-A |
c.4094del |
p.Leu1365* |
Frameshift |
10/23 |
- |
1 |
17-41243460-G-C |
c.4088C>G |
p.Ser1363* |
Nonsense |
10/23 |
- |
1 |
17-41243467-T-G |
c.4081A>C |
p.Met1361Leu |
Missense |
10/23 |
- |
3 |
17-41243468-TG-T |
c.4080del |
p.Ser1360Argfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41243476-C-T |
c.4072G>A |
p.Glu1358Lys |
Missense |
10/23 |
- |
2 |
17-41243476-TCT-T |
c.4073_4074del |
p.Glu1358Alafs*9 |
Frameshift |
10/23 |
- |
1 |
17-41243478-T-TTCAA |
c.4069_4070insTTGA |
p.Glu1357Valfs*12 |
Frameshift |
10/23 |
- |
1 |
17-41243479-TCTTG-T |
c.4066_4069del |
p.Gln1356Lysfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41243482-TGATT-T |
c.4065_4068del |
p.Asn1355Lysfs*10 |
Frameshift |
10/23 |
- |
49 |
17-41243482-TGAT-T |
c.4065_4067del |
p.Asn1355_Gln1356delinsLys |
MultiAAMissense |
10/23 |
- |
1 |
17-41243483-A-T |
c.4065T>A |
p.Asn1355Lys |
Missense |
10/23 |
- |
1 |
17-41243483-A-C |
c.4065T>G |
p.Asn1355Lys |
Missense |
10/23 |
- |
1 |
17-41243486-TATT-T |
c.4063_4065del |
p.Asn1355del |
InFrameDeletion |
10/23 |
- |
1 |
17-41243491-C-A |
c.4057G>T |
p.Glu1353* |
Nonsense |
10/23 |
- |
1 |
17-41243494-C-T |
c.4054G>A |
p.Glu1352Lys |
Missense |
10/23 |
- |
4 |
17-41243495-C-G |
c.4053G>C |
p.Leu1351Phe |
Missense |
10/23 |
- |
1 |
17-41243495-C-A |
c.4053G>T |
p.Leu1351Phe |
Missense |
10/23 |
- |
1 |
17-41243496-A-T |
c.4052T>A |
p.Leu1351* |
Nonsense |
10/23 |
- |
1 |
17-41243501-C-CC |
c.4049dup |
p.Glu1352Glyfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41243502-G-A |
c.4046C>T |
p.Thr1349Met |
Missense |
10/23 |
- |
3 |
17-41243503-T-G |
c.4045A>C |
p.Thr1349Pro |
Missense |
10/23 |
- |
1 |
17-41243503-T-C |
c.4045A>G |
p.Thr1349Ala |
Missense |
10/23 |
- |
1 |
17-41243506-CC-C |
c.4043del |
p.Gly1348Glufs*18 |
Frameshift |
10/23 |
- |
2 |
17-41243506-C-T |
c.4042G>A |
p.Gly1348Arg |
Missense |
10/23 |
- |
1 |
17-41243506-C-G |
c.4042G>C |
p.Gly1348Arg |
Missense |
10/23 |
- |
1 |
17-41243506-C-A |
c.4042G>T |
p.Gly1348* |
Nonsense |
10/23 |
- |
1 |
17-41243508-TCT-T |
c.4041_4042del |
p.Gly1348Asnfs*7 |
Frameshift |
10/23 |
- |
4 |
17-41243509-T-A |
c.4039A>T |
p.Arg1347* |
Nonsense |
10/23 |
- |
2 |
17-41243509-T-C |
c.4039A>G |
p.Arg1347Gly |
Missense |
10/23 |
- |
28 |
17-41243512-C-T |
c.4036G>A |
p.Glu1346Lys |
Missense |
10/23 |
- |
2 |
17-41243514-TT-T |
c.4035del |
p.Glu1346Lysfs*20 |
Frameshift |
10/23 |
- |
46 |
17-41243515-C-T |
c.4033G>A |
p.Glu1345Lys |
Missense |
10/23 |
- |
1 |
17-41243517-T-C |
c.4031A>G |
p.Asp1344Gly |
Missense |
10/23 |
- |
1 |
17-41243518-C-G |
c.4030G>C |
p.Asp1344His |
Missense |
10/23 |
- |
1 |
17-41243518-TC-T |
c.4030del |
p.Asp1344Metfs*22 |
Frameshift |
10/23 |
- |
1 |
17-41243522-T-A |
c.4026A>T |
p.Ser1342Ser |
Synonymous |
10/23 |
- |
1 |
17-41243522-T-C |
c.4026A>G |
p.Ser1342Ser |
Synonymous |
10/23 |
- |
1 |
17-41243522-T-G |
c.4026A>C |
p.Ser1342Ser |
Synonymous |
10/23 |
- |
1 |
17-41243535-T-C |
c.4013A>G |
p.Lys1338Arg |
Missense |
10/23 |
- |
1 |
17-41243536-TT-T |
c.4013del |
p.Lys1338Argfs*28 |
Frameshift |
10/23 |
- |
1 |
17-41243550-AA-A |
c.3999del |
p.Gly1334Valfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41243550-A-G |
c.3998T>C |
p.Val1333Ala |
Missense |
10/23 |
- |
1 |
17-41243553-C-A |
c.3995G>T |
p.Gly1332Val |
Missense |
10/23 |
- |
1 |
17-41243557-G-A |
c.3991C>T |
p.Gln1331* |
Nonsense |
10/23 |
- |
3 |
17-41243558-G-A |
c.3990C>T |
p.Ser1330Ser |
Synonymous |
10/23 |
- |
2 |
17-41243567-C-G |
c.3981G>C |
p.Gln1327His |
Missense |
10/23 |
- |
1 |
17-41243567-C-A |
c.3981G>T |
p.Gln1327His |
Missense |
10/23 |
- |
1 |
17-41243569-G-A |
c.3979C>T |
p.Gln1327* |
Nonsense |
10/23 |
- |
1 |
17-41243570-A-C |
c.3978T>G |
p.His1326Gln |
Missense |
10/23 |
- |
1 |
17-41243570-A-AGCAA |
c.3978_3979insTGCT |
p.Gln1327Cysfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41243577-CATTT-C |
c.3968_3971del |
p.Gln1323Argfs*12 |
Frameshift |
10/23 |
- |
1 |
17-41243581-G-A |
c.3967C>T |
p.Gln1323* |
Nonsense |
10/23 |
- |
2 |
17-41243584-TT-T |
c.3966del |
p.Lys1322Asnfs*3 |
Frameshift |
10/23 |
- |
2 |
17-41243592-C-A |
c.3956G>T |
p.Gly1319Val |
Missense |
10/23 |
- |
1 |
17-41243596-T-G |
c.3952A>C |
p.Ile1318Leu |
Missense |
10/23 |
- |
1 |
17-41243601-GAAAG-G |
c.3947_3950del |
p.Phe1316* |
Frameshift |
10/23 |
- |
1 |
17-41243611-G-A |
c.3937C>T |
p.Gln1313* |
Nonsense |
10/23 |
- |
6 |
17-41243612-G-A |
c.3936C>T |
p.Thr1312Thr |
Synonymous |
10/23 |
- |
1 |
17-41243617-TTTGT-T |
c.3931_3934del |
p.Asn1311Profs*6 |
Frameshift |
10/23 |
- |
1 |
17-41243619-G-T |
c.3929C>A |
p.Thr1310Lys |
Missense |
10/23 |
- |
3 |
17-41243620-T-TT |
c.3928dup |
p.Thr1310Asnfs*20 |
Frameshift |
10/23 |
- |
1 |
17-41243631-CAA-C |
c.3916_3917del |
p.Leu1306Aspfs*23 |
Frameshift |
10/23 |
- |
10 |
17-41243639-CC-C |
c.3910del |
p.Glu1304Lysfs*3 |
Frameshift |
10/23 |
- |
1 |
17-41243644-C-A |
c.3904G>T |
p.Glu1302* |
Nonsense |
10/23 |
- |
1 |
17-41243653-G-A |
c.3895C>T |
p.Gln1299* |
Nonsense |
10/23 |
- |
5 |
17-41243654-GTGA-G |
c.3892_3894del |
p.Ser1298del |
InFrameDeletion |
10/23 |
- |
1 |
17-41243655-G-C |
c.3893C>G |
p.Ser1298* |
Nonsense |
10/23 |
- |
1 |
17-41243655-G-T |
c.3893C>A |
p.Ser1298* |
Nonsense |
10/23 |
- |
1 |
17-41243668-T-C |
c.3880A>G |
p.Ser1294Gly |
Missense |
10/23 |
- |
1 |
17-41243670-AGCAG-A |
c.3875_3878del |
p.Ser1292Leufs*14 |
Frameshift |
10/23 |
- |
1 |
17-41243670-G-A |
c.3878C>T |
p.Ala1293Val |
Missense |
10/23 |
- |
1 |
17-41243673-AG-A |
c.3875del |
p.Ser1292Leufs*15 |
Frameshift |
10/23 |
- |
2 |
17-41243675-AA-A |
c.3874del |
p.Ser1292Leufs*15 |
Frameshift |
10/23 |
- |
2 |
17-41243680-T-C |
c.3868A>G |
p.Lys1290Glu |
Missense |
10/23 |
- |
2 |
17-41243680-T-A |
c.3868A>T |
p.Lys1290* |
Nonsense |
10/23 |
- |
1 |
17-41243681-TTGTTTCCTCA-T |
c.3858_3867del |
p.Ser1286Argfs*18 |
Frameshift |
10/23 |
- |
1 |
17-41243689-TCACT-T |
c.3858_3861del |
p.Ser1286Argfs*20 |
Frameshift |
10/23 |
- |
8 |
17-41243689-TC-T |
c.3859del |
p.Glu1287Argfs*20 |
Frameshift |
10/23 |
- |
1 |
17-41243691-C-G |
c.3857G>C |
p.Ser1286Thr |
Missense |
10/23 |
- |
1 |
17-41243694-A-AA |
c.3855dup |
p.Ser1286* |
Nonsense |
10/23 |
- |
1 |
17-41243701-G-A |
c.3847C>T |
p.His1283Tyr |
Missense |
10/23 |
- |
1 |
17-41243705-CCTGAG-C |
c.3839_3843del |
p.Ser1280* |
Frameshift |
10/23 |
- |
1 |
17-41243706-T-G |
c.3842A>C |
p.Gln1281Pro |
Missense |
10/23 |
- |
2 |
17-41243707-G-GTCAT |
c.3840_3841insATGA |
p.Gln1281Metfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41243707-G-A |
c.3841C>T |
p.Gln1281* |
Nonsense |
10/23 |
- |
10 |
17-41243714-CC-C |
c.3835del |
p.Ala1279Hisfs*28 |
Frameshift |
10/23 |
- |
2 |
17-41243725-T-C |
c.3823A>G |
p.Ile1275Val |
Missense |
10/23 |
- |
11 |
17-41243726-TTACCT-T |
c.3819_3823del |
p.Gln1273Hisfs*12 |
Frameshift |
10/23 |
- |
2 |
17-41243729-CC-C |
c.3820del |
p.Val1274* |
Frameshift |
10/23 |
- |
1 |
17-41243731-G-A |
c.3817C>T |
p.Gln1273* |
Nonsense |
10/23 |
- |
10 |
17-41243735-A-AA |
c.3813dup |
p.Asn1272* |
Nonsense |
10/23 |
- |
2 |
17-41243740-A-C |
c.3808T>G |
p.Cys1270Gly |
Missense |
10/23 |
- |
1 |
17-41243741-G-A |
c.3807C>T |
p.Asp1269Asp |
Synonymous |
10/23 |
- |
1 |
17-41243745-T-C |
c.3803A>G |
p.Asn1268Ser |
Missense |
10/23 |
- |
1 |
17-41243751-C-G |
c.3797G>C |
p.Ser1266Thr |
Missense |
10/23 |
- |
3 |
17-41243765-T-A |
c.3783A>T |
p.Leu1261Phe |
Missense |
10/23 |
- |
1 |
17-41243768-T-C |
c.3780A>G |
p.Leu1260Leu |
Synonymous |
10/23 |
- |
1 |
17-41243768-ATA-A |
c.3780_3781del |
p.Leu1260Phefs*6 |
Frameshift |
10/23 |
- |
2 |
17-41243771-AA-A |
c.3779del |
p.Leu1260Tyrfs*4 |
Frameshift |
10/23 |
- |
4 |
17-41243779-C-CA |
c.3768_3769insT |
p.Glu1257* |
Nonsense |
10/23 |
- |
1 |
17-41243779-TCT-T |
c.3770_3771del |
p.Glu1257Glyfs*9 |
Frameshift |
10/23 |
- |
23 |
17-41243783-TGT-T |
c.3767_3768del |
p.Thr1256Argfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41243785-T-TT |
c.3764dup |
p.Asn1255Lysfs*12 |
Frameshift |
10/23 |
- |
3 |
17-41243788-TTA-T |
c.3759_3760del |
p.Lys1254Glufs*12 |
Frameshift |
10/23 |
- |
6 |
17-41243789-A-AA |
c.3759dup |
p.Lys1254* |
Nonsense |
10/23 |
- |
4 |
17-41243790-AGAC-A |
c.3756_3758del |
p.Ser1253del |
InFrameDeletion |
10/23 |
- |
1 |
17-41243790-G-C |
c.3758C>G |
p.Ser1253Cys |
Missense |
10/23 |
- |
1 |
17-41243790-AGA-A |
c.3758_3759del |
p.Ser1253* |
Frameshift |
10/23 |
- |
5 |
17-41243794-AGACA-A |
c.3756_3759del |
p.Ser1253Argfs*10 |
Frameshift |
10/23 |
- |
42 |
17-41243795-A-AA |
c.3753dup |
p.Leu1252Serfs*3 |
Frameshift |
10/23 |
- |
1 |
17-41243795-A-T |
c.3753T>A |
p.Cys1251* |
Nonsense |
10/23 |
- |
1 |
17-41243798-AC-A |
c.3750del |
p.Glu1250Aspfs*14 |
Frameshift |
10/23 |
- |
2 |
17-41243800-C-T |
c.3748G>A |
p.Glu1250Lys |
Missense |
10/23 |
- |
4 |
17-41243800-C-A |
c.3748G>T |
p.Glu1250* |
Nonsense |
10/23 |
- |
14 |
17-41243804-A-C |
c.3744T>G |
p.Ala1248Ala |
Synonymous |
10/23 |
- |
1 |
17-41243809-C-T |
c.3739G>A |
p.Val1247Ile |
Missense |
10/23 |
- |
6 |
17-41243811-GGTGCTATG-G |
c.3731_3738del |
p.His1244Argfs*8 |
Frameshift |
10/23 |
- |
1 |
17-41243811-G-T |
c.3737C>A |
p.Thr1246Asn |
Missense |
10/23 |
- |
1 |
17-41243821-T-C |
c.3727A>G |
p.Arg1243Gly |
Missense |
10/23 |
- |
1 |
17-41243830-G-A |
c.3718C>T |
p.Gln1240* |
Nonsense |
10/23 |
- |
5 |
17-41243834-AA-A |
c.3715del |
p.Ser1239Leufs*25 |
Frameshift |
10/23 |
- |
4 |
17-41243835-G-A |
c.3713C>T |
p.Pro1238Leu |
Missense |
10/23 |
- |
5 |
17-41243835-G-C |
c.3713C>G |
p.Pro1238Arg |
Missense |
10/23 |
- |
1 |
17-41243837-T-C |
c.3711A>G |
p.Ile1237Met |
Missense |
10/23 |
- |
2 |
17-41243838-TA-T |
c.3710del |
p.Ile1237Asnfs*27 |
Frameshift |
10/23 |
- |
5 |
17-41243838-A-AA |
c.3710dup |
p.Pro1238Thrfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41243840-TAT-T |
c.3710_3711del |
p.Ile1237Thrfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41243840-A-G |
c.3708T>C |
p.Asn1236Asn |
Synonymous |
10/23 |
- |
1 |
17-41243840-A-C |
c.3708T>G |
p.Asn1236Lys |
Missense |
10/23 |
- |
6 |
17-41243841-ATTGTTTA-A |
c.3703_3709del |
p.Asn1235Tyrfs*27 |
Frameshift |
10/23 |
- |
1 |
17-41243841-ATT-A |
c.3706_3707del |
p.Asn1236Tyrfs*7 |
Frameshift |
10/23 |
- |
2 |
17-41243841-T-C |
c.3707A>G |
p.Asn1236Ser |
Missense |
10/23 |
- |
4 |
17-41243847-AC-CA |
c.3700_3701delinsTG |
p.Val1234* |
Missense |
10/23 |
- |
1 |
17-41243849-CTTTAC-C |
c.3700_3704del |
p.Val1234Glnfs*8 |
Frameshift |
10/23 |
- |
47 |
17-41243853-C-CTT |
c.3694_3695insAA |
p.Gly1232Glufs*4 |
Frameshift |
10/23 |
- |
1 |
17-41243857-A-G |
c.3691T>C |
p.Phe1231Leu |
Missense |
10/23 |
- |
1 |
17-41243859-A-C |
c.3689T>G |
p.Leu1230* |
Nonsense |
10/23 |
- |
3 |
17-41243869-G-A |
c.3679C>T |
p.Gln1227* |
Nonsense |
10/23 |
- |
1 |
17-41243870-G-C |
c.3678C>G |
p.Phe1226Leu |
Missense |
10/23 |
- |
1 |
17-41243870-G-T |
c.3678C>A |
p.Phe1226Leu |
Missense |
10/23 |
- |
1 |
17-41243872-A-G |
c.3676T>C |
p.Phe1226Leu |
Missense |
10/23 |
- |
1 |
17-41243873-G-T |
c.3675C>A |
p.Cys1225* |
Nonsense |
10/23 |
- |
1 |
17-41243877-G-GAAGG |
c.3673_3674insTCCT |
p.Cys1225Phefs*10 |
Frameshift |
10/23 |
- |
1 |
17-41243884-C-A |
c.3664G>T |
p.Glu1222* |
Nonsense |
10/23 |
- |
1 |
17-41243886-T-G |
c.3662A>C |
p.Glu1221Ala |
Missense |
10/23 |
- |
2 |
17-41243887-C-A |
c.3661G>T |
p.Glu1221* |
Nonsense |
10/23 |
- |
6 |
17-41243893-C-A |
c.3655G>T |
p.Glu1219* |
Nonsense |
10/23 |
- |
1 |
17-41243893-C-T |
c.3655G>A |
p.Glu1219Lys |
Missense |
10/23 |
- |
1 |
17-41243896-T-A |
c.3652A>T |
p.Ser1218Cys |
Missense |
10/23 |
- |
1 |
17-41243898-G-T |
c.3650C>A |
p.Ser1217Tyr |
Missense |
10/23 |
- |
1 |
17-41243898-G-GT |
c.3649_3650insA |
p.Ser1217Tyrfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41243899-A-G |
c.3649T>C |
p.Ser1217Pro |
Missense |
10/23 |
- |
3 |
17-41243900-T-TT |
c.3648dup |
p.Ser1217Ilefs*2 |
Frameshift |
10/23 |
- |
1 |
17-41243901-TAAGTT-T |
c.3644_3648del |
p.Asn1215Ilefs*2 |
Frameshift |
10/23 |
- |
2 |
17-41243908-C-T |
c.3640G>A |
p.Glu1214Lys |
Missense |
10/23 |
- |
5 |
17-41243908-TCT-T |
c.3642_3643del |
p.Asn1215Leufs*3 |
Frameshift |
10/23 |
- |
1 |
17-41243908-C-A |
c.3640G>T |
p.Glu1214* |
Nonsense |
10/23 |
- |
7 |
17-41243911-C-A |
c.3637G>T |
p.Glu1213* |
Nonsense |
10/23 |
- |
1 |
17-41243913-G-T |
c.3635C>A |
p.Ser1212* |
Nonsense |
10/23 |
- |
1 |
17-41243913-G-C |
c.3635C>G |
p.Ser1212* |
Nonsense |
10/23 |
- |
1 |
17-41243915-GG-AA |
c.3632_3633delinsTT |
p.Ser1211Phe |
Nonsense |
10/23 |
- |
1 |
17-41243921-T-TT |
c.3627dup |
p.Glu1210Argfs*9 |
Frameshift |
10/23 |
- |
18 |
17-41243922-A-G |
c.3626T>C |
p.Leu1209Ser |
Missense |
10/23 |
- |
1 |
17-41243922-A-C |
c.3626T>G |
p.Leu1209* |
Nonsense |
10/23 |
- |
3 |
17-41243923-AA-A |
c.3626del |
p.Leu1209* |
Frameshift |
10/23 |
- |
3 |
17-41243923-A-C |
c.3625T>G |
p.Leu1209Val |
Missense |
10/23 |
- |
2 |
17-41243924-T-G |
c.3624A>C |
p.Lys1208Asn |
Missense |
10/23 |
- |
1 |
17-41243926-TT-T |
c.3624del |
p.Lys1208Asnfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41243926-T-TT |
c.3624dup |
p.Leu1209Ilefs*10 |
Frameshift |
10/23 |
- |
1 |
17-41243929-T-TA |
c.3618_3619insT |
p.Lys1207* |
Nonsense |
10/23 |
- |
1 |
17-41243930-G-A |
c.3618C>T |
p.Ala1206Ala |
Synonymous |
10/23 |
- |
1 |
17-41243935-C-T |
c.3613G>A |
p.Gly1205Arg |
Missense |
10/23 |
- |
1 |
17-41243940-C-T |
c.3608G>A |
p.Arg1203Gln |
Missense |
10/23 |
- |
6 |
17-41243940-CG-AC |
c.3607_3608delinsGT |
p.Arg1203Val |
Missense |
10/23 |
- |
1 |
17-41243941-G-A |
c.3607C>T |
p.Arg1203* |
Nonsense |
10/23 |
- |
31 |
17-41243942-G-A |
c.3606C>T |
p.Tyr1202Tyr |
Synonymous |
10/23 |
- |
1 |
17-41243947-C-T |
c.3601G>A |
p.Gly1201Ser |
Missense |
10/23 |
- |
1 |
17-41243948-CCT-C |
c.3599_3600del |
p.Gln1200Argfs*18 |
Frameshift |
10/23 |
- |
2 |
17-41243948-CC-C |
c.3602del |
p.Gly1201Valfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41243948-C-A |
c.3600G>T |
p.Gln1200His |
Missense |
10/23 |
- |
5 |
17-41243948-C-G |
c.3600G>C |
p.Gln1200His |
Missense |
10/23 |
- |
6 |
17-41243950-G-A |
c.3598C>T |
p.Gln1200* |
Nonsense |
10/23 |
- |
15 |
17-41243952-G-A |
c.3596C>T |
p.Ala1199Val |
Missense |
10/23 |
- |
2 |
17-41243955-A-C |
c.3593T>G |
p.Leu1198Trp |
Missense |
10/23 |
- |
1 |
17-41243955-A-T |
c.3593T>A |
p.Leu1198* |
Nonsense |
10/23 |
- |
2 |
17-41243967-GG-G |
c.3583del |
p.His1195Ilefs*15 |
Frameshift |
10/23 |
- |
1 |
17-41243967-G-A |
c.3581C>T |
p.Thr1194Ile |
Missense |
10/23 |
- |
1 |
17-41243976-CT-TT |
c.3572delinsA |
p.Ser1191Asn |
Missense |
10/23 |
- |
1 |
17-41243982-CT-GC |
c.3565_3566delinsGC |
p.Ser1189Ala |
Missense |
10/23 |
- |
2 |
17-41243995-TCTCCTTTCTGGACGCT-T |
c.3541_3556del |
p.Val1181Leufs*24 |
Frameshift |
10/23 |
- |
1 |
17-41244000-TTT-T |
c.3548_3549del |
p.Lys1183Argfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41244000-T-A |
c.3548A>T |
p.Lys1183Ile |
Missense |
10/23 |
- |
31 |
17-41244000-T-C |
c.3548A>G |
p.Lys1183Arg |
Missense |
10/23 |
- |
101 |
17-41244000-TT-GG |
c.3547_3548delinsCC |
p.Lys1183Pro |
Missense |
10/23 |
- |
2 |
17-41244004-G-A |
c.3544C>T |
p.Gln1182* |
Nonsense |
10/23 |
- |
2 |
17-41244007-C-G |
c.3541G>C |
p.Val1181Leu |
Missense |
10/23 |
- |
1 |
17-41244007-C-T |
c.3541G>A |
p.Val1181Ile |
Missense |
10/23 |
- |
1 |
17-41244008-CGCTTTTGCTAA-C |
c.3530_3540del |
p.Phe1177Cysfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41244014-TG-T |
c.3534del |
p.Ser1178Argfs*32 |
Frameshift |
10/23 |
- |
1 |
17-41244021-AA-A |
c.3531del |
p.Phe1177Leufs*33 |
Frameshift |
10/23 |
- |
2 |
17-41244022-C-T |
c.3526G>A |
p.Val1176Ile |
Missense |
10/23 |
- |
2 |
17-41244032-T-C |
c.3516A>G |
p.Glu1172Glu |
Synonymous |
10/23 |
- |
1 |
17-41244034-C-A |
c.3514G>T |
p.Glu1172* |
Nonsense |
10/23 |
- |
1 |
17-41244040-T-A |
c.3508A>T |
p.Ile1170Phe |
Missense |
10/23 |
- |
1 |
17-41244042-T-G |
c.3506A>C |
p.Asp1169Ala |
Missense |
10/23 |
- |
1 |
17-41244049-C-T |
c.3499G>A |
p.Glu1167Lys |
Missense |
10/23 |
- |
1 |
17-41244050-A-G |
c.3498T>C |
p.Ala1166Ala |
Synonymous |
10/23 |
- |
1 |
17-41244050-A-C |
c.3498T>G |
p.Ala1166Ala |
Synonymous |
10/23 |
- |
1 |
17-41244050-A-T |
c.3498T>A |
p.Ala1166Ala |
Synonymous |
10/23 |
- |
1 |
17-41244051-GC-TG |
c.3496_3497delinsCA |
p.Ala1166His |
Missense |
10/23 |
- |
1 |
17-41244056-A-AA |
c.3495dup |
p.Ala1166Cysfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41244057-C-A |
c.3491G>T |
p.Ser1164Ile |
Missense |
10/23 |
- |
1 |
17-41244058-T-A |
c.3490A>T |
p.Ser1164Cys |
Missense |
10/23 |
- |
1 |
17-41244059-TAGTATCTTCCT-T |
c.3481_3491del |
p.Glu1161Phefs*3 |
Frameshift |
10/23 |
- |
16 |
17-41244061-T-TT |
c.3487dup |
p.Thr1163Asnfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41244063-AT-A |
c.3485del |
p.Asp1162Valfs*48 |
Frameshift |
10/23 |
- |
4 |
17-41244064-TCTTCCTTTAT-T |
c.3478_3487del |
p.Lys1160Leufs*47 |
Frameshift |
10/23 |
- |
1 |
17-41244068-CCTTT-C |
c.3477_3480del |
p.Ile1159Metfs*50 |
Frameshift |
10/23 |
- |
3 |
17-41244076-TC-T |
c.3472del |
p.Glu1158Lysfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41244076-C-A |
c.3472G>T |
p.Glu1158* |
Nonsense |
10/23 |
- |
2 |
17-41244085-C-G |
c.3463G>C |
p.Asp1155His |
Missense |
10/23 |
- |
3 |
17-41244094-C-T |
c.3454G>A |
p.Asp1152Asn |
Missense |
10/23 |
- |
3 |
17-41244095-CA-C |
c.3453del |
p.Asp1151Glufs*4 |
Frameshift |
10/23 |
- |
2 |
17-41244098-CA-C |
c.3450del |
p.Asp1151Metfs*4 |
Frameshift |
10/23 |
- |
2 |
17-41244100-G-A |
c.3448C>T |
p.Pro1150Ser |
Missense |
10/23 |
- |
6 |
17-41244103-T-C |
c.3445A>G |
p.Thr1149Ala |
Missense |
10/23 |
- |
1 |
17-41244106-TC-T |
c.3442del |
p.Glu1148Argfs*7 |
Frameshift |
10/23 |
- |
7 |
17-41244106-C-A |
c.3442G>T |
p.Glu1148* |
Nonsense |
10/23 |
- |
1 |
17-41244112-CAAAC-C |
c.3436_3439del |
p.Cys1146Leufs*8 |
Frameshift |
10/23 |
- |
4 |
17-41244115-C-A |
c.3433G>T |
p.Val1145Phe |
Missense |
10/23 |
- |
1 |
17-41244116-C-A |
c.3432G>T |
p.Gln1144His |
Missense |
10/23 |
- |
2 |
17-41244116-C-G |
c.3432G>C |
p.Gln1144His |
Missense |
10/23 |
- |
2 |
17-41244116-CC-C |
c.3433del |
p.Val1145Phefs*10 |
Frameshift |
10/23 |
- |
1 |
17-41244120-G-A |
c.3428C>T |
p.Ser1143Phe |
Missense |
10/23 |
- |
1 |
17-41244124-GC-G |
c.3424del |
p.Ala1142Hisfs*13 |
Frameshift |
10/23 |
- |
2 |
17-41244124-C-G |
c.3424G>C |
p.Ala1142Pro |
Missense |
10/23 |
- |
1 |
17-41244128-A-AA |
c.3420dup |
p.His1141Serfs*8 |
Frameshift |
10/23 |
- |
1 |
17-41244129-C-CAGTAGTCA |
c.3418_3419insTGACTACT |
p.Ser1140Metfs*18 |
Frameshift |
10/23 |
- |
1 |
17-41244130-T-C |
c.3418A>G |
p.Ser1140Gly |
Missense |
10/23 |
- |
7 |
17-41244131-TA-T |
c.3417del |
p.Ser1139Argfs*16 |
Frameshift |
10/23 |
- |
1 |
17-41244136-C-A |
c.3412G>T |
p.Gly1138* |
Nonsense |
10/23 |
- |
1 |
17-41244138-A-G |
c.3410T>C |
p.Met1137Thr |
Missense |
10/23 |
- |
2 |
17-41244141-G-C |
c.3407C>G |
p.Pro1136Arg |
Missense |
10/23 |
- |
1 |
17-41244142-GGCTGTTCTAAGTT-G |
c.3394_3406del |
p.Asn1132Leufs*19 |
Frameshift |
10/23 |
- |
1 |
17-41244142-G-T |
c.3406C>A |
p.Pro1136Thr |
Missense |
10/23 |
- |
1 |
17-41244143-C-T |
c.3405G>A |
p.Gln1135Gln |
Synonymous |
10/23 |
- |
1 |
17-41244145-G-A |
c.3403C>T |
p.Gln1135* |
Nonsense |
10/23 |
- |
3 |
17-41244148-C-A |
c.3400G>T |
p.Glu1134* |
Nonsense |
10/23 |
- |
8 |
17-41244148-C-T |
c.3400G>A |
p.Glu1134Lys |
Missense |
10/23 |
- |
1 |
17-41244155-A-C |
c.3393T>G |
p.Asp1131Glu |
Missense |
10/23 |
- |
1 |
17-41244155-A-T |
c.3393T>A |
p.Asp1131Glu |
Missense |
10/23 |
- |
1 |
17-41244156-T-C |
c.3392A>G |
p.Asp1131Gly |
Missense |
10/23 |
- |
1 |
17-41244159-G-C |
c.3389C>G |
p.Ser1130* |
Nonsense |
10/23 |
- |
2 |
17-41244167-GA-G |
c.3381del |
p.Leu1128* |
Frameshift |
10/23 |
- |
1 |
17-41244167-A-C |
c.3381T>G |
p.Tyr1127* |
Nonsense |
10/23 |
- |
2 |
17-41244167-A-T |
c.3381T>A |
p.Tyr1127* |
Nonsense |
10/23 |
- |
2 |
17-41244175-A-T |
c.3373T>A |
p.Ser1125Thr |
Missense |
10/23 |
- |
1 |
17-41244176-AGA-A |
c.3375_3376del |
p.Pro1126Ilefs*6 |
Frameshift |
10/23 |
- |
2 |
17-41244181-TCTGTA-T |
c.3363_3367del |
p.Asn1121Lysfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41244183-G-A |
c.3365C>T |
p.Thr1122Ile |
Missense |
10/23 |
- |
1 |
17-41244185-TATTAA-T |
c.3359_3363del |
p.Val1120Aspfs*11 |
Frameshift |
10/23 |
- |
2 |
17-41244188-TAA-T |
c.3359_3360del |
p.Val1120Glufs*12 |
Frameshift |
10/23 |
- |
1 |
17-41244190-ACA-A |
c.3358_3359del |
p.Val1120* |
Frameshift |
10/23 |
- |
1 |
17-41244196-G-A |
c.3352C>T |
p.Gln1118* |
Nonsense |
10/23 |
- |
1 |
17-41244200-T-C |
c.3348A>G |
p.Val1116Val |
Synonymous |
10/23 |
- |
1 |
17-41244203-T-C |
c.3345A>G |
p.Glu1115Glu |
Synonymous |
10/23 |
- |
1 |
17-41244204-TTCTT-T |
c.3342_3345del |
p.Glu1115* |
Frameshift |
10/23 |
- |
5 |
17-41244206-CTTC-C |
c.3344_3346del |
p.Glu1115del |
InFrameDeletion |
10/23 |
- |
2 |
17-41244206-TTC-CAT |
c.3340_3342delinsATG |
p.Glu1114Met |
Missense |
10/23 |
- |
1 |
17-41244208-C-A |
c.3340G>T |
p.Glu1114* |
Nonsense |
10/23 |
- |
2 |
17-41244208-TCAT-T |
c.3339_3341del |
p.Tyr1113_Glu1114delins* |
MultiAAMissense |
10/23 |
- |
1 |
17-41244216-TT-T |
c.3333del |
p.Glu1112Asnfs*5 |
Frameshift |
10/23 |
- |
6 |
17-41244217-G-A |
c.3331C>T |
p.Gln1111* |
Nonsense |
10/23 |
- |
2 |
17-41244217-TGCTT-T |
c.3331_3334del |
p.Gln1111Asnfs*5 |
Frameshift |
10/23 |
- |
34 |
17-41244218-GCTT-G |
c.3328_3330del |
p.Lys1110del |
InFrameDeletion |
10/23 |
- |
4 |
17-41244221-T-G |
c.3327A>C |
p.Lys1109Asn |
Missense |
10/23 |
- |
6 |
17-41244223-T-TGA |
c.3324_3325insTC |
p.Lys1109Serfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41244224-T-TT |
c.3329dup |
p.Gln1111Alafs*4 |
Frameshift |
10/23 |
- |
2 |
17-41244224-TT-T |
c.3329del |
p.Lys1110Serfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41244229-C-A |
c.3319G>T |
p.Glu1107* |
Nonsense |
10/23 |
- |
5 |
17-41244246-C-T |
c.3302G>A |
p.Ser1101Asn |
Missense |
10/23 |
- |
5 |
17-41244252-G-A |
c.3296C>T |
p.Pro1099Leu |
Missense |
10/23 |
- |
4 |
17-41244253-GG-G |
c.3296del |
p.Pro1099Leufs*10 |
Frameshift |
10/23 |
- |
9 |
17-41244255-AA-A |
c.3294del |
p.Pro1099Leufs*10 |
Frameshift |
10/23 |
- |
2 |
17-41244260-TTT-T |
c.3288_3289del |
p.Leu1098Serfs*4 |
Frameshift |
10/23 |
- |
2 |
17-41244262-G-A |
c.3286C>T |
p.Gln1096* |
Nonsense |
10/23 |
- |
1 |
17-41244265-TT-T |
c.3285del |
p.Lys1095Asnfs*14 |
Frameshift |
10/23 |
- |
3 |
17-41244265-T-C |
c.3283A>G |
p.Lys1095Glu |
Missense |
10/23 |
- |
2 |
17-41244269-AG-A |
c.3279del |
p.Tyr1094Ilefs*15 |
Frameshift |
10/23 |
- |
6 |
17-41244275-CAGGT-C |
c.3270_3273del |
p.Pro1091Argfs*17 |
Frameshift |
10/23 |
- |
2 |
17-41244280-G-A |
c.3268C>T |
p.Gln1090* |
Nonsense |
10/23 |
- |
4 |
17-41244285-AA-A |
c.3266del |
p.Leu1089Cysfs*20 |
Frameshift |
10/23 |
- |
2 |
17-41244285-A-AA |
c.3266dup |
p.Leu1089Phefs*4 |
Frameshift |
10/23 |
- |
3 |
17-41244291-A-C |
c.3257T>G |
p.Leu1086* |
Nonsense |
10/23 |
- |
6 |
17-41244292-AA-A |
c.3257del |
p.Leu1086* |
Frameshift |
10/23 |
- |
1 |
17-41244294-CT-GA |
c.3253_3254delinsTC |
p.Arg1085Ser |
Missense |
10/23 |
- |
1 |
17-41244295-T-TT |
c.3253dup |
p.Arg1085Lysfs*8 |
Frameshift |
10/23 |
- |
1 |
17-41244309-A-T |
c.3239T>A |
p.Leu1080* |
Nonsense |
10/23 |
- |
3 |
17-41244321-C-G |
c.3227G>C |
p.Arg1076Thr |
Missense |
10/23 |
- |
2 |
17-41244321-TCT-T |
c.3228_3229del |
p.Gly1077Alafs*8 |
Frameshift |
10/23 |
- |
19 |
17-41244322-T-TA |
c.3225_3226insT |
p.Arg1076* |
Nonsense |
10/23 |
- |
1 |
17-41244328-T-C |
c.3220A>G |
p.Arg1074Gly |
Missense |
10/23 |
- |
1 |
17-41244334-AG-A |
c.3214del |
p.Leu1072* |
Frameshift |
10/23 |
- |
6 |
17-41244343-G-A |
c.3205C>T |
p.Gln1069* |
Nonsense |
10/23 |
- |
1 |
17-41244352-C-A |
c.3196G>T |
p.Glu1066* |
Nonsense |
10/23 |
- |
1 |
17-41244353-A-AC |
c.3194_3195insG |
p.Asp1065Glufs*2 |
Frameshift |
10/23 |
- |
1 |
17-41244355-C-CC |
c.3193dup |
p.Asp1065Glyfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41244363-C-G |
c.3185G>C |
p.Gly1062Ala |
Missense |
10/23 |
- |
1 |
17-41244366-TA-T |
c.3182del |
p.Ile1061Lysfs*12 |
Frameshift |
10/23 |
- |
1 |
17-41244369-T-TT |
c.3181dup |
p.Ile1061Asnfs*5 |
Frameshift |
10/23 |
- |
1 |
17-41244369-T-G |
c.3179A>C |
p.Glu1060Ala |
Missense |
10/23 |
- |
3 |
17-41244369-TT-T |
c.3181del |
p.Ile1061* |
Frameshift |
10/23 |
- |
2 |
17-41244370-C-A |
c.3178G>T |
p.Glu1060* |
Nonsense |
10/23 |
- |
6 |
17-41244379-T-C |
c.3169A>G |
p.Ser1057Gly |
Missense |
10/23 |
- |
1 |
17-41244380-G-A |
c.3168C>T |
p.Ser1056Ser |
Synonymous |
10/23 |
- |
2 |
17-41244386-CC-C |
c.3164del |
p.Gly1055Alafs*7 |
Frameshift |
10/23 |
- |
1 |
17-41244386-C-T |
c.3162G>A |
p.Val1054Val |
Synonymous |
10/23 |
- |
1 |
17-41244389-T-TC |
c.3158_3159insG |
p.Val1054Serfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41244391-TC-T |
c.3157del |
p.Glu1053Lysfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41244394-T-C |
c.3154A>G |
p.Asn1052Asp |
Missense |
10/23 |
- |
1 |
17-41244394-TT-T |
c.3155del |
p.Asn1052Metfs*10 |
Frameshift |
10/23 |
- |
2 |
17-41244397-T-A |
c.3151A>T |
p.Thr1051Ser |
Missense |
10/23 |
- |
1 |
17-41244396-G-C |
c.3152C>G |
p.Thr1051Ser |
Missense |
10/23 |
- |
1 |
17-41244406-CC-C |
c.3143del |
p.Gly1048Valfs*14 |
Frameshift |
10/23 |
- |
1 |
17-41244412-TCATTAATATT-T |
c.3129_3138del |
p.Asn1043Lysfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41244416-TAATATTGCTT-T |
c.3125_3134del |
p.Ser1042Metfs*3 |
Frameshift |
10/23 |
- |
5 |
17-41244418-T-C |
c.3130A>G |
p.Ile1044Val |
Missense |
10/23 |
- |
3 |
17-41244426-G-C |
c.3122C>G |
p.Ser1041* |
Nonsense |
10/23 |
- |
2 |
17-41244429-C-G |
c.3119G>C |
p.Ser1040Thr |
Missense |
10/23 |
- |
4 |
17-41244429-C-T |
c.3119G>A |
p.Ser1040Asn |
Missense |
10/23 |
- |
49 |
17-41244430-CT-C |
c.3118del |
p.Ser1040Alafs*8 |
Frameshift |
10/23 |
- |
1 |
17-41244433-C-A |
c.3115G>T |
p.Ala1039Ser |
Missense |
10/23 |
- |
1 |
17-41244434-T-C |
c.3114A>G |
p.Glu1038Glu |
Synonymous |
10/23 |
- |
1 |
17-41244435-T-C |
c.3113A>G |
p.Glu1038Gly |
Missense |
10/23 |
- |
101 |
17-41244435-TC-AG |
c.3112_3113delinsCT |
p.Glu1038Leu |
Missense |
10/23 |
- |
1 |
17-41244435-T-G |
c.3113A>C |
p.Glu1038Ala |
Missense |
10/23 |
- |
27 |
17-41244435-TT-T |
c.3114del |
p.Ala1039Profs*9 |
Frameshift |
10/23 |
- |
2 |
17-41244436-TCTTTAA-T |
c.3107_3112del |
p.Phe1036_Glu1038delins* |
MultiAAMissense |
10/23 |
- |
1 |
17-41244451-C-G |
c.3097G>C |
p.Glu1033Gln |
Missense |
10/23 |
- |
1 |
17-41244454-CTAATGTTATTA-C |
c.3084_3094del |
p.Asn1029Argfs*5 |
Frameshift |
10/23 |
- |
3 |
17-41244456-A-C |
c.3092T>G |
p.Ile1031Ser |
Missense |
10/23 |
- |
1 |
17-41244464-TA-T |
c.3084del |
p.Asn1029Ilefs*19 |
Frameshift |
10/23 |
- |
1 |
17-41244465-C-T |
c.3083G>A |
p.Arg1028His |
Missense |
10/23 |
- |
6 |
17-41244466-G-A |
c.3082C>T |
p.Arg1028Cys |
Missense |
10/23 |
- |
3 |
17-41244468-C-T |
c.3080G>A |
p.Ser1027Asn |
Missense |
10/23 |
- |
1 |
17-41244492-A-G |
c.3056T>C |
p.Ile1019Thr |
Missense |
10/23 |
- |
2 |
17-41244494-G-C |
c.3054C>G |
p.Asn1018Lys |
Missense |
10/23 |
- |
1 |
17-41244495-T-C |
c.3053A>G |
p.Asn1018Ser |
Missense |
10/23 |
- |
2 |
17-41244499-C-A |
c.3049G>T |
p.Glu1017* |
Nonsense |
10/23 |
- |
2 |
17-41244506-C-CC |
c.3044dup |
p.Asn1016Lysfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41244507-A-G |
c.3041T>C |
p.Met1014Thr |
Missense |
10/23 |
- |
1 |
17-41244511-C-A |
c.3037G>T |
p.Glu1013* |
Nonsense |
10/23 |
- |
1 |
17-41244511-TC-T |
c.3037del |
p.Glu1013Lysfs*11 |
Frameshift |
10/23 |
- |
1 |
17-41244517-TC-T |
c.3031del |
p.Glu1011Lysfs*13 |
Frameshift |
10/23 |
- |
1 |
17-41244517-C-T |
c.3031G>A |
p.Glu1011Lys |
Missense |
10/23 |
- |
1 |
17-41244518-CAG-C |
c.3029_3030del |
p.Pro1010Argfs*7 |
Frameshift |
10/23 |
- |
2 |
17-41244524-C-T |
c.3024G>A |
p.Met1008Ile |
Missense |
10/23 |
- |
7 |
17-41244526-T-C |
c.3022A>G |
p.Met1008Val |
Missense |
10/23 |
- |
7 |
17-41244528-G-T |
c.3020C>A |
p.Ser1007* |
Nonsense |
10/23 |
- |
2 |
17-41244529-GAATG-G |
c.3018_3021del |
p.His1006Glnfs*17 |
Frameshift |
10/23 |
- |
12 |
17-41244532-TG-T |
c.3016del |
p.His1006Ilefs*18 |
Frameshift |
10/23 |
- |
1 |
17-41244536-CC-C |
c.3013del |
p.Glu1005Asnfs*19 |
Frameshift |
10/23 |
- |
1 |
17-41244540-AAA-A |
c.3008_3009del |
p.Phe1003* |
Frameshift |
10/23 |
- |
1 |
17-41244546-TTCCTCT-T |
c.2998_3003del |
p.Glu1000_Glu1001del |
InFrameDeletion |
10/23 |
- |
1 |
17-41244546-TT-T |
c.3005del |
p.Asn1002Thrfs*22 |
Frameshift |
10/23 |
- |
3 |
17-41244549-TC-AT |
c.2998_2999delinsAT |
p.Glu1000Met |
Missense |
10/23 |
- |
1 |
17-41244552-A-T |
c.2996T>A |
p.Leu999Gln |
Missense |
10/23 |
- |
1 |
17-41244552-AG-TA |
c.2995_2996delinsTA |
p.Leu999* |
Missense |
10/23 |
- |
2 |
17-41244566-A-AA |
c.2982dup |
p.Lys995* |
Nonsense |
10/23 |
- |
1 |
17-41244567-CA-AC |
c.2980_2981delinsGT |
p.Cys994Val |
Missense |
10/23 |
- |
1 |
17-41244567-ACA-A |
c.2981_2982del |
p.Cys994* |
Frameshift |
10/23 |
- |
2 |
17-41244568-CA-C |
c.2980del |
p.Cys994Valfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41244576-T-C |
c.2972A>G |
p.Lys991Arg |
Missense |
10/23 |
- |
1 |
17-41244577-T-C |
c.2971A>G |
p.Lys991Glu |
Missense |
10/23 |
- |
1 |
17-41244577-T-A |
c.2971A>T |
p.Lys991* |
Nonsense |
10/23 |
- |
1 |
17-41244580-ACAAA-A |
c.2967_2970del |
p.Phe989Leufs*10 |
Frameshift |
10/23 |
- |
1 |
17-41244582-AAA-A |
c.2966_2967del |
p.Phe989Cysfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41244583-A-G |
c.2965T>C |
p.Phe989Leu |
Missense |
10/23 |
- |
1 |
17-41244583-AA-A |
c.2967del |
p.Phe989Leufs*11 |
Frameshift |
10/23 |
- |
1 |
17-41244581-A-C |
c.2967T>G |
p.Phe989Leu |
Missense |
10/23 |
- |
1 |
17-41244581-A-T |
c.2967T>A |
p.Phe989Leu |
Missense |
10/23 |
- |
1 |
17-41244584-AT-A |
c.2964del |
p.Phe989Leufs*11 |
Frameshift |
10/23 |
- |
1 |
17-41244585-G-T |
c.2963C>A |
p.Ser988* |
Nonsense |
10/23 |
- |
1 |
17-41244585-G-C |
c.2963C>G |
p.Ser988* |
Nonsense |
10/23 |
- |
1 |
17-41244586-A-C |
c.2962T>G |
p.Ser988Ala |
Missense |
10/23 |
- |
13 |
17-41244591-GA-G |
c.2957del |
p.Ile986Thrfs*14 |
Frameshift |
10/23 |
- |
1 |
17-41244595-GG-G |
c.2955del |
p.Ile986Serfs*14 |
Frameshift |
10/23 |
- |
1 |
17-41244600-AA-A |
c.2952del |
p.Ile986Serfs*14 |
Frameshift |
10/23 |
- |
1 |
17-41244607-G-C |
c.2941C>G |
p.Pro981Ala |
Missense |
10/23 |
- |
1 |
17-41244609-A-T |
c.2939T>A |
p.Ile980Lys |
Missense |
10/23 |
- |
1 |
17-41244614-A-C |
c.2934T>G |
p.Tyr978* |
Nonsense |
10/23 |
- |
11 |
17-41244614-GA-G |
c.2934del |
p.Arg979Valfs*21 |
Frameshift |
10/23 |
- |
1 |
17-41244615-T-TT |
c.2933dup |
p.Tyr978* |
Nonsense |
10/23 |
- |
1 |
17-41244617-T-C |
c.2931A>G |
p.Pro977Pro |
Synonymous |
10/23 |
- |
2 |
17-41244618-G-A |
c.2930C>T |
p.Pro977Leu |
Missense |
10/23 |
- |
1 |
17-41244623-T-A |
c.2925A>T |
p.Gln975His |
Missense |
10/23 |
- |
1 |
17-41244624-T-C |
c.2924A>G |
p.Gln975Arg |
Missense |
10/23 |
- |
1 |
17-41244627-A-T |
c.2921T>A |
p.Leu974* |
Nonsense |
10/23 |
- |
1 |
17-41244634-C-A |
c.2914G>T |
p.Gly972* |
Nonsense |
10/23 |
- |
1 |
17-41244634-C-T |
c.2914G>A |
p.Gly972Arg |
Missense |
10/23 |
- |
2 |
17-41244634-C-G |
c.2914G>C |
p.Gly972Arg |
Missense |
10/23 |
- |
2 |
17-41244636-T-C |
c.2912A>G |
p.His971Arg |
Missense |
10/23 |
- |
1 |
17-41244640-T-TT |
c.2910dup |
p.His971Thrfs*21 |
Frameshift |
10/23 |
- |
2 |
17-41244644-TT-T |
c.2906del |
p.Asn969Ilefs*31 |
Frameshift |
10/23 |
- |
1 |
17-41244644-T-C |
c.2904A>G |
p.Pro968Pro |
Synonymous |
10/23 |
- |
1 |
17-41244644-T-G |
c.2904A>C |
p.Pro968Pro |
Synonymous |
10/23 |
- |
1 |
17-41244644-T-A |
c.2904A>T |
p.Pro968Pro |
Synonymous |
10/23 |
- |
1 |
17-41244658-CC-C |
c.2891del |
p.Gly964Aspfs*36 |
Frameshift |
10/23 |
- |
1 |
17-41244658-C-T |
c.2890G>A |
p.Gly964Arg |
Missense |
10/23 |
- |
1 |
17-41244663-TT-T |
c.2887del |
p.Thr963Leufs*37 |
Frameshift |
10/23 |
- |
1 |
17-41244664-C-T |
c.2884G>A |
p.Glu962Lys |
Missense |
10/23 |
- |
1 |
17-41244665-G-A |
c.2883C>T |
p.Asn961Asn |
Synonymous |
10/23 |
- |
1 |
17-41244667-TT-T |
c.2882del |
p.Asn961Thrfs*39 |
Frameshift |
10/23 |
- |
2 |
17-41244672-C-T |
c.2876G>A |
p.Arg959Lys |
Missense |
10/23 |
- |
1 |
17-41244676-AACTGA-A |
c.2872_2876del |
p.Phe958Argfs*11 |
Frameshift |
10/23 |
- |
2 |
17-41244679-G-T |
c.2869C>A |
p.Gln957Lys |
Missense |
10/23 |
- |
1 |
17-41244679-G-A |
c.2869C>T |
p.Gln957* |
Nonsense |
10/23 |
- |
2 |
17-41244681-AGATGA-A |
c.2866_2870del |
p.Ser956Valfs*13 |
Frameshift |
10/23 |
- |
2 |
17-41244684-G-T |
c.2864C>A |
p.Ser955* |
Nonsense |
10/23 |
- |
10 |
17-41244684-TGATAG-T |
c.2860_2864del |
p.Leu954Ilefs*15 |
Frameshift |
10/23 |
- |
1 |
17-41244702-C-CT |
c.2845_2846insA |
p.Gly949Glufs*3 |
Frameshift |
10/23 |
- |
3 |
17-41244716-A-T |
c.2832T>A |
p.Cys944* |
Nonsense |
10/23 |
- |
1 |
17-41244727-T-C |
c.2821A>G |
p.Asn941Asp |
Missense |
10/23 |
- |
1 |
17-41244732-A-C |
c.2816T>G |
p.Val939Gly |
Missense |
10/23 |
- |
1 |
17-41244735-G-C |
c.2813C>G |
p.Pro938Arg |
Missense |
10/23 |
- |
1 |
17-41244740-TATCT-T |
c.2806_2809del |
p.Asp936Serfs*63 |
Frameshift |
10/23 |
- |
8 |
17-41244742-C-T |
c.2806G>A |
p.Asp936Asn |
Missense |
10/23 |
- |
1 |
17-41244745-TT-T |
c.2805del |
p.Asp936Ilefs*64 |
Frameshift |
10/23 |
- |
9 |
17-41244746-C-T |
c.2802G>A |
p.Gln934Gln |
Synonymous |
10/23 |
- |
1 |
17-41244748-G-A |
c.2800C>T |
p.Gln934* |
Nonsense |
10/23 |
- |
16 |
17-41244749-GAC-G |
c.2798_2799del |
p.Gly933Alafs*4 |
Frameshift |
10/23 |
- |
1 |
17-41244752-AAC-ATG |
c.2794_2795delinsCA |
p.Val932His |
Missense |
10/23 |
- |
2 |
17-41244754-C-T |
c.2794G>A |
p.Val932Ile |
Missense |
10/23 |
- |
1 |
17-41244758-CA-C |
c.2790del |
p.Val931Trpfs*69 |
Frameshift |
10/23 |
- |
1 |
17-41244763-AA-A |
c.2787del |
p.Pro930Leufs*70 |
Frameshift |
10/23 |
- |
1 |
17-41244763-A-AA |
c.2787dup |
p.Pro930Serfs*8 |
Frameshift |
10/23 |
- |
3 |
17-41244772-T-TAT |
c.2776_2777insTA |
p.Thr926Ilefs*75 |
Frameshift |
10/23 |
- |
1 |
17-41244775-T-G |
c.2773A>C |
p.Ile925Leu |
Missense |
10/23 |
- |
4 |
17-41244779-A-G |
c.2769T>C |
p.Val923Val |
Synonymous |
10/23 |
- |
1 |
17-41244782-CT-C |
c.2766del |
p.Val923Leufs*77 |
Frameshift |
10/23 |
- |
1 |
17-41244782-T-G |
c.2766A>C |
p.Thr922Thr |
Synonymous |
10/23 |
- |
1 |
17-41244785-C-T |
c.2763G>A |
p.Gln921Gln |
Synonymous |
10/23 |
- |
1 |
17-41244786-CT-C |
c.2762del |
p.Gln921Argfs*79 |
Frameshift |
10/23 |
- |
1 |
17-41244787-G-A |
c.2761C>T |
p.Gln921* |
Nonsense |
10/23 |
- |
1 |
17-41244789-A-G |
c.2759T>C |
p.Val920Ala |
Missense |
10/23 |
- |
4 |
17-41244790-ACAGGCTTGATATTAGACTCA-A |
c.2740_2759del |
p.Glu914Thrfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41244793-G-A |
c.2755C>T |
p.Pro919Ser |
Missense |
10/23 |
- |
12 |
17-41244797-TG-T |
c.2751del |
p.Lys918Serfs*82 |
Frameshift |
10/23 |
- |
1 |
17-41244800-A-G |
c.2748T>C |
p.Asn916Asn |
Synonymous |
10/23 |
- |
1 |
17-41244803-A-AA |
c.2745dup |
p.Asn916* |
Nonsense |
10/23 |
- |
4 |
17-41244809-A-C |
c.2739T>G |
p.Asn913Lys |
Missense |
10/23 |
- |
1 |
17-41244809-A-T |
c.2739T>A |
p.Asn913Lys |
Missense |
10/23 |
- |
1 |
17-41244814-T-G |
c.2734A>C |
p.Lys912Gln |
Missense |
10/23 |
- |
1 |
17-41244815-T-C |
c.2733A>G |
p.Gly911Gly |
Synonymous |
10/23 |
- |
2 |
17-41244820-TGATT-T |
c.2727_2730del |
p.Asn909Lysfs*90 |
Frameshift |
10/23 |
- |
2 |
17-41244820-G-A |
c.2728C>T |
p.Gln910* |
Nonsense |
10/23 |
- |
4 |
17-41244822-T-A |
c.2726A>T |
p.Asn909Ile |
Missense |
10/23 |
- |
3 |
17-41244825-T-TT |
c.2726dup |
p.Asn909Lysfs*6 |
Frameshift |
10/23 |
- |
3 |
17-41244826-C-A |
c.2722G>T |
p.Glu908* |
Nonsense |
10/23 |
- |
9 |
17-41244835-G-C |
c.2713C>G |
p.Gln905Glu |
Missense |
10/23 |
- |
1 |
17-41244835-G-A |
c.2713C>T |
p.Gln905* |
Nonsense |
10/23 |
- |
1 |
17-41244839-A-T |
c.2709T>A |
p.Cys903* |
Nonsense |
10/23 |
- |
3 |
17-41244840-ACA-A |
c.2709_2710del |
p.Cys903* |
Frameshift |
10/23 |
- |
1 |
17-41244843-T-C |
c.2705A>G |
p.Glu902Gly |
Missense |
10/23 |
- |
1 |
17-41244846-AA-GC |
c.2701_2702delinsGC |
p.Phe901Ala |
Missense |
10/23 |
- |
3 |
17-41244847-AAA-A |
c.2702_2703del |
p.Phe901* |
Frameshift |
10/23 |
- |
1 |
17-41244856-T-C |
c.2692A>G |
p.Lys898Glu |
Missense |
10/23 |
- |
3 |
17-41244857-T-TT |
c.2694dup |
p.Val899Serfs*4 |
Frameshift |
10/23 |
- |
2 |
17-41244862-T-A |
c.2686A>T |
p.Ser896Cys |
Missense |
10/23 |
- |
1 |
17-41244863-TTT-T |
c.2685_2686del |
p.Pro897Lysfs*5 |
Frameshift |
10/23 |
- |
10 |
17-41244864-TT-T |
c.2686del |
p.Ser896Valfs*104 |
Frameshift |
10/23 |
- |
3 |
17-41244865-TG-T |
c.2683del |
p.Gln895Lysfs*105 |
Frameshift |
10/23 |
- |
1 |
17-41244867-TTT-T |
c.2681_2682del |
p.Lys894Thrfs*8 |
Frameshift |
10/23 |
- |
13 |
17-41244869-TCTTT-T |
c.2679_2682del |
p.Lys893Asnfs*106 |
Frameshift |
10/23 |
- |
5 |
17-41244879-C-A |
c.2669G>T |
p.Gly890Val |
Missense |
10/23 |
- |
4 |
17-41244880-CC-C |
c.2670del |
p.Ser891Profs*2 |
Frameshift |
10/23 |
- |
2 |
17-41244880-C-G |
c.2668G>C |
p.Gly890Arg |
Missense |
10/23 |
- |
1 |
17-41244880-C-T |
c.2668G>A |
p.Gly890Arg |
Missense |
10/23 |
- |
1 |
17-41244882-G-A |
c.2666C>T |
p.Ser889Phe |
Missense |
10/23 |
- |
1 |
17-41244885-T-C |
c.2663A>G |
p.His888Arg |
Missense |
10/23 |
- |
1 |
17-41244899-T-TTGCC |
c.2648_2649insGGCA |
p.Thr884Alafs*20 |
Frameshift |
10/23 |
- |
1 |
17-41244900-TGCA-T |
c.2646_2648del |
p.Cys882_Ala883delins* |
MultiAAMissense |
10/23 |
- |
1 |
17-41244903-C-G |
c.2645G>C |
p.Cys882Ser |
Missense |
10/23 |
- |
1 |
17-41244907-C-A |
c.2641G>T |
p.Glu881* |
Nonsense |
10/23 |
- |
7 |
17-41244911-T-C |
c.2637A>G |
p.Glu879Glu |
Synonymous |
10/23 |
- |
3 |
17-41244913-C-A |
c.2635G>T |
p.Glu879* |
Nonsense |
10/23 |
- |
8 |
17-41244913-C-T |
c.2635G>A |
p.Glu879Lys |
Missense |
10/23 |
- |
1 |
17-41244931-A-G |
c.2617T>C |
p.Ser873Pro |
Missense |
10/23 |
- |
1 |
17-41244934-A-AA |
c.2617dup |
p.Ser873Phefs*30 |
Frameshift |
10/23 |
- |
2 |
17-41244935-C-T |
c.2613G>A |
p.Pro871Pro |
Synonymous |
10/23 |
- |
1 |
17-41244935-C-CA |
c.2612_2613insT |
p.Phe872Valfs*31 |
Frameshift |
10/23 |
- |
1 |
17-41244936-GG-GA |
c.2611delinsT |
p.Pro871Ser |
Missense |
10/23 |
- |
1 |
17-41244936-G-A |
c.2612C>T |
p.Pro871Leu |
Missense |
10/23 |
- |
146 |
17-41244936-G-C |
c.2612C>G |
p.Pro871Arg |
Missense |
10/23 |
- |
56 |
17-41244936-G-T |
c.2612C>A |
p.Pro871Gln |
Missense |
10/23 |
- |
56 |
17-41244939-G-C |
c.2609C>G |
p.Ala870Gly |
Missense |
10/23 |
- |
3 |
17-41244942-AAA-A |
c.2606_2607del |
p.Phe869Cysfs*33 |
Frameshift |
10/23 |
- |
1 |
17-41244945-G-C |
c.2603C>G |
p.Ser868* |
Nonsense |
10/23 |
- |
3 |
17-41244945-G-T |
c.2603C>A |
p.Ser868* |
Nonsense |
10/23 |
- |
3 |
17-41244951-C-T |
c.2597G>A |
p.Arg866His |
Missense |
10/23 |
- |
2 |
17-41244951-C-A |
c.2597G>T |
p.Arg866Leu |
Missense |
10/23 |
- |
1 |
17-41244952-G-A |
c.2596C>T |
p.Arg866Cys |
Missense |
10/23 |
- |
8 |
17-41244957-G-C |
c.2591C>G |
p.Ser864* |
Nonsense |
10/23 |
- |
2 |
17-41244962-CCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTC-C |
c.2546_2587del |
p.Glu849_Lys862del |
InFrameDeletion |
10/23 |
- |
1 |
17-41244964-T-C |
c.2584A>G |
p.Lys862Glu |
Missense |
10/23 |
- |
4 |
17-41244966-A-T |
c.2582T>A |
p.Phe861Tyr |
Missense |
10/23 |
- |
1 |
17-41244972-ATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCT-A |
c.2535_2576del |
p.Glu846_Asn859del |
InFrameDeletion |
10/23 |
- |
1 |
17-41244976-G-A |
c.2572C>T |
p.Gln858* |
Nonsense |
10/23 |
- |
6 |
17-41244978-A-T |
c.2570T>A |
p.Leu857* |
Nonsense |
10/23 |
- |
1 |
17-41244980-A-C |
c.2568T>G |
p.Tyr856* |
Nonsense |
10/23 |
- |
1 |
17-41244980-A-T |
c.2568T>A |
p.Tyr856* |
Nonsense |
10/23 |
- |
1 |
17-41244982-A-G |
c.2566T>C |
p.Tyr856His |
Missense |
10/23 |
- |
15 |
17-41244983-CTG-TAT |
c.2563_2565delinsATA |
p.Gln855Ile |
Missense |
10/23 |
- |
1 |
17-41244983-C-A |
c.2565G>T |
p.Gln855His |
Missense |
10/23 |
- |
1 |
17-41244983-C-G |
c.2565G>C |
p.Gln855His |
Missense |
10/23 |
- |
1 |
17-41244984-T-A |
c.2564A>T |
p.Gln855Leu |
Missense |
10/23 |
- |
1 |
17-41244984-T-G |
c.2564A>C |
p.Gln855Pro |
Missense |
10/23 |
- |
1 |
17-41244984-TG-TC |
c.2563delinsG |
p.Gln855Glu |
Missense |
10/23 |
- |
1 |
17-41244985-G-A |
c.2563C>T |
p.Gln855* |
Nonsense |
10/23 |
- |
4 |
17-41244991-C-CGAAAAGTGAA |
c.2556_2557insTTCACTTTTC |
p.Asp853Phefs*53 |
Frameshift |
10/23 |
- |
1 |
17-41244997-TC-T |
c.2551del |
p.Glu851Asnfs*42 |
Frameshift |
10/23 |
- |
4 |
17-41245002-T-TTCTTCACTTT |
c.2553_2554insGAAAAGTGAA |
p.Leu852Glufs*3 |
Frameshift |
10/23 |
- |
1 |
17-41245017-GCT-G |
c.2530_2531del |
p.Ser844Hisfs*7 |
Frameshift |
10/23 |
- |
2 |
17-41245018-CTT-C |
c.2529_2530del |
p.Ser844Hisfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41245023-TT-T |
c.2527del |
p.Thr843Glnfs*3 |
Frameshift |
10/23 |
- |
1 |
17-41245023-T-C |
c.2525A>G |
p.Glu842Gly |
Missense |
10/23 |
- |
2 |
17-41245026-C-T |
c.2522G>A |
p.Arg841Gln |
Missense |
10/23 |
- |
1 |
17-41245026-CG-TA |
c.2521_2522delinsTA |
p.Arg841* |
Nonsense |
10/23 |
- |
1 |
17-41245027-G-A |
c.2521C>T |
p.Arg841Trp |
Missense |
10/23 |
- |
22 |
17-41245030-T-A |
c.2518A>T |
p.Ser840Cys |
Missense |
10/23 |
- |
1 |
17-41245032-GTG-G |
c.2517_2518del |
p.His839Glnfs*12 |
Frameshift |
10/23 |
- |
1 |
17-41245037-AAC-TAA |
c.2509_2511delinsTTA |
p.Val837Leu |
Nonsense |
10/23 |
- |
1 |
17-41245040-CTT-C |
c.2507_2508del |
p.Glu836Glyfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41245047-C-T |
c.2501G>A |
p.Gly834Glu |
Missense |
10/23 |
- |
1 |
17-41245049-CC-C |
c.2501del |
p.Gly834Aspfs*12 |
Frameshift |
10/23 |
- |
1 |
17-41245052-T-A |
c.2496A>T |
p.Pro832Pro |
Synonymous |
10/23 |
- |
1 |
17-41245054-G-A |
c.2494C>T |
p.Pro832Ser |
Missense |
10/23 |
- |
2 |
17-41245062-AAA-A |
c.2486_2487del |
p.Phe829* |
Frameshift |
10/23 |
- |
2 |
17-41245067-CTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAA-C |
c.2423_2481del |
p.Phe808Trpfs*3 |
Frameshift |
10/23 |
- |
1 |
17-41245071-G-T |
c.2477C>A |
p.Thr826Lys |
Missense |
10/23 |
- |
8 |
17-41245073-TGT-T |
c.2477_2478del |
p.Thr826Argfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245073-TG-T |
c.2475del |
p.Asp825Glufs*21 |
Frameshift |
10/23 |
- |
13 |
17-41245073-G-T |
c.2475C>A |
p.Asp825Glu |
Missense |
10/23 |
- |
1 |
17-41245073-G-C |
c.2475C>G |
p.Asp825Glu |
Missense |
10/23 |
- |
1 |
17-41245075-C-A |
c.2473G>T |
p.Asp825Tyr |
Missense |
10/23 |
- |
1 |
17-41245076-A-AA |
c.2472dup |
p.Asp825* |
Nonsense |
10/23 |
- |
1 |
17-41245082-A-T |
c.2466T>A |
p.Asn822Lys |
Missense |
10/23 |
- |
1 |
17-41245082-A-C |
c.2466T>G |
p.Asn822Lys |
Missense |
10/23 |
- |
1 |
17-41245090-T-C |
c.2458A>G |
p.Lys820Glu |
Missense |
10/23 |
- |
10 |
17-41245090-T-G |
c.2458A>C |
p.Lys820Gln |
Missense |
10/23 |
- |
1 |
17-41245092-GG-G |
c.2457del |
p.Asp821Ilefs*25 |
Frameshift |
10/23 |
- |
7 |
17-41245093-A-C |
c.2455T>G |
p.Ser819Ala |
Missense |
10/23 |
- |
1 |
17-41245101-T-C |
c.2447A>G |
p.His816Arg |
Missense |
10/23 |
- |
1 |
17-41245106-TT-T |
c.2443del |
p.Ile815Phefs*31 |
Frameshift |
10/23 |
- |
1 |
17-41245112-C-CC |
c.2438dup |
p.Leu814Thrfs*9 |
Frameshift |
10/23 |
- |
2 |
17-41245118-GG-G |
c.2433del |
p.Lys812Argfs*3 |
Frameshift |
10/23 |
- |
6 |
17-41245120-T-A |
c.2428A>T |
p.Asn810Tyr |
Missense |
10/23 |
- |
4 |
17-41245129-C-A |
c.2419G>T |
p.Ala807Ser |
Missense |
10/23 |
- |
1 |
17-41245134-C-T |
c.2414G>A |
p.Cys805Tyr |
Missense |
10/23 |
- |
1 |
17-41245136-C-G |
c.2412G>C |
p.Gln804His |
Missense |
10/23 |
- |
6 |
17-41245136-ACT-A |
c.2411_2412del |
p.Gln804Leufs*5 |
Frameshift |
10/23 |
- |
3 |
17-41245138-G-A |
c.2410C>T |
p.Gln804* |
Nonsense |
10/23 |
- |
2 |
17-41245141-CTCAC-C |
c.2406_2409del |
p.Gln804Valfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41245143-AC-TA |
c.2404_2405delinsTA |
p.Val802* |
Nonsense |
10/23 |
- |
1 |
17-41245146-ACA-A |
c.2405_2406del |
p.Val802Glufs*7 |
Frameshift |
10/23 |
- |
7 |
17-41245156-GG-G |
c.2393del |
p.Pro798Glnfs*5 |
Frameshift |
10/23 |
- |
1 |
17-41245159-C-A |
c.2389G>T |
p.Glu797* |
Nonsense |
10/23 |
- |
5 |
17-41245159-TCT-T |
c.2389_2390del |
p.Glu797Thrfs*3 |
Frameshift |
10/23 |
- |
4 |
17-41245161-G-A |
c.2387C>T |
p.Thr796Ile |
Missense |
10/23 |
- |
1 |
17-41245167-G-C |
c.2381C>G |
p.Ala794Gly |
Missense |
10/23 |
- |
1 |
17-41245178-AG-TG |
c.2370delinsA |
p.Thr790Thr |
Missense |
10/23 |
- |
10 |
17-41245180-T-C |
c.2368A>G |
p.Thr790Ala |
Missense |
10/23 |
- |
3 |
17-41245185-A-G |
c.2363T>C |
p.Val788Ala |
Missense |
10/23 |
- |
1 |
17-41245186-AC-A |
c.2362del |
p.Val788Leufs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245190-CC-C |
c.2359del |
p.Glu787Lysfs*5 |
Frameshift |
10/23 |
- |
2 |
17-41245190-C-CC |
c.2359dup |
p.Glu787Glyfs*3 |
Frameshift |
10/23 |
- |
4 |
17-41245191-A-G |
c.2357T>C |
p.Leu786Pro |
Missense |
10/23 |
- |
1 |
17-41245193-GTAACGAG-G |
c.2351_2357del |
p.Ser784Trpfs*6 |
Frameshift |
10/23 |
- |
2 |
17-41245194-A-T |
c.2354T>A |
p.Leu785* |
Nonsense |
10/23 |
- |
2 |
17-41245197-G-A |
c.2351C>T |
p.Ser784Leu |
Missense |
10/23 |
- |
2 |
17-41245197-CG-C |
c.2351del |
p.Ser784Cysfs*8 |
Frameshift |
10/23 |
- |
1 |
17-41245200-AT-GC |
c.2347_2348delinsGC |
p.Ile783Ala |
Missense |
10/23 |
- |
1 |
17-41245201-T-C |
c.2347A>G |
p.Ile783Val |
Missense |
10/23 |
- |
2 |
17-41245203-AC-A |
c.2345del |
p.Ser782Ilefs*10 |
Frameshift |
10/23 |
- |
1 |
17-41245206-TTCCT-T |
c.2340_2343del |
p.Glu781Valfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41245208-C-A |
c.2340G>T |
p.Gln780His |
Missense |
10/23 |
- |
1 |
17-41245210-G-A |
c.2338C>T |
p.Gln780* |
Nonsense |
10/23 |
- |
6 |
17-41245216-C-A |
c.2332G>T |
p.Gly778Cys |
Missense |
10/23 |
- |
1 |
17-41245217-A-C |
c.2331T>G |
p.Tyr777* |
Nonsense |
10/23 |
- |
1 |
17-41245219-A-C |
c.2329T>G |
p.Tyr777Asp |
Missense |
10/23 |
- |
1 |
17-41245227-CC-CT |
c.2320delinsA |
p.Gly774Ser |
Missense |
10/23 |
- |
1 |
17-41245233-TAC-T |
c.2314_2315del |
p.Val772Thrfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245233-A-G |
c.2315T>C |
p.Val772Ala |
Missense |
10/23 |
- |
15 |
17-41245234-ACCAA-A |
c.2312_2315del |
p.Leu771Tyrfs*20 |
Frameshift |
10/23 |
- |
1 |
17-41245234-C-A |
c.2314G>T |
p.Val772Leu |
Missense |
10/23 |
- |
1 |
17-41245234-C-G |
c.2314G>C |
p.Val772Leu |
Missense |
10/23 |
- |
1 |
17-41245237-A-G |
c.2311T>C |
p.Leu771Leu |
Synonymous |
10/23 |
- |
50 |
17-41245237-AA-A |
c.2312del |
p.Leu771Trpfs*21 |
Frameshift |
10/23 |
- |
1 |
17-41245235-C-T |
c.2313G>A |
p.Leu771Leu |
Synonymous |
10/23 |
- |
27 |
17-41245239-G-T |
c.2309C>A |
p.Ser770* |
Nonsense |
10/23 |
- |
2 |
17-41245242-AT-GC |
c.2305_2306delinsGC |
p.Ile769Ala |
Missense |
10/23 |
- |
1 |
17-41245246-CT-C |
c.2302del |
p.Ser768Valfs*24 |
Frameshift |
10/23 |
- |
1 |
17-41245247-G-T |
c.2301C>A |
p.Ser767Arg |
Missense |
10/23 |
- |
1 |
17-41245253-TC-T |
c.2295del |
p.Ser766Valfs*26 |
Frameshift |
10/23 |
- |
1 |
17-41245254-T-C |
c.2294A>G |
p.Glu765Gly |
Missense |
10/23 |
- |
2 |
17-41245255-C-A |
c.2293G>T |
p.Glu765* |
Nonsense |
10/23 |
- |
1 |
17-41245255-TCT-T |
c.2296_2297del |
p.Ser766* |
Frameshift |
10/23 |
- |
3 |
17-41245262-T-C |
c.2286A>G |
p.Arg762Arg |
Synonymous |
10/23 |
- |
1 |
17-41245262-T-A |
c.2286A>T |
p.Arg762Ser |
Missense |
10/23 |
- |
11 |
17-41245267-TCA-T |
c.2280_2281del |
p.Glu761Lysfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41245267-C-G |
c.2281G>C |
p.Glu761Gln |
Missense |
10/23 |
- |
2 |
17-41245267-C-T |
c.2281G>A |
p.Glu761Lys |
Missense |
10/23 |
- |
1 |
17-41245272-TT-T |
c.2278del |
p.Thr760Leufs*5 |
Frameshift |
10/23 |
- |
1 |
17-41245272-T-TT |
c.2278dup |
p.Thr760Asnfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41245273-G-A |
c.2275C>T |
p.Gln759* |
Nonsense |
10/23 |
- |
2 |
17-41245281-CC-C |
c.2269del |
p.Val757Phefs*8 |
Frameshift |
10/23 |
- |
10 |
17-41245285-C-A |
c.2263G>T |
p.Glu755* |
Nonsense |
10/23 |
- |
3 |
17-41245292-T-C |
c.2256A>G |
p.Leu752Leu |
Synonymous |
10/23 |
- |
1 |
17-41245292-T-TT |
c.2257dup |
p.Ser753Lysfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41245295-ACA-A |
c.2253_2254del |
p.Met751Ilefs*10 |
Frameshift |
10/23 |
- |
2 |
17-41245297-T-G |
c.2251A>C |
p.Met751Leu |
Missense |
10/23 |
- |
1 |
17-41245298-G-GG |
c.2250dup |
p.Met751Hisfs*11 |
Frameshift |
10/23 |
- |
2 |
17-41245298-GAG-TAA |
c.2248_2250delinsTTA |
p.Leu750Leu |
Nonsense |
10/23 |
- |
2 |
17-41245298-TGAGAT-T |
c.2248_2252del |
p.Leu750Valfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41245301-A-G |
c.2247T>C |
p.Asp749Asp |
Synonymous |
10/23 |
- |
1 |
17-41245303-C-A |
c.2245G>T |
p.Asp749Tyr |
Missense |
10/23 |
- |
2 |
17-41245310-GG-G |
c.2241del |
p.Asp749Ilefs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245310-G-GG |
c.2241dup |
p.Lys748Glnfs*14 |
Frameshift |
10/23 |
- |
1 |
17-41245316-A-T |
c.2232T>A |
p.Ala744Ala |
Synonymous |
10/23 |
- |
1 |
17-41245316-A-G |
c.2232T>C |
p.Ala744Ala |
Synonymous |
10/23 |
- |
1 |
17-41245316-A-C |
c.2232T>G |
p.Ala744Ala |
Synonymous |
10/23 |
- |
1 |
17-41245319-A-G |
c.2229T>C |
p.Asn743Asn |
Synonymous |
10/23 |
- |
1 |
17-41245323-T-C |
c.2225A>G |
p.Asn742Ser |
Missense |
10/23 |
- |
1 |
17-41245326-G-C |
c.2222C>G |
p.Ser741Cys |
Missense |
10/23 |
- |
1 |
17-41245326-G-A |
c.2222C>T |
p.Ser741Phe |
Missense |
10/23 |
- |
2 |
17-41245332-T-A |
c.2216A>T |
p.Lys739Ile |
Missense |
10/23 |
- |
1 |
17-41245333-T-TT |
c.2217dup |
p.Val740Serfs*3 |
Frameshift |
10/23 |
- |
1 |
17-41245333-T-A |
c.2215A>T |
p.Lys739* |
Nonsense |
10/23 |
- |
1 |
17-41245335-A-AA |
c.2214dup |
p.Lys739* |
Nonsense |
10/23 |
- |
1 |
17-41245336-C-T |
c.2212G>A |
p.Val738Ile |
Missense |
10/23 |
- |
1 |
17-41245341-T-G |
c.2207A>C |
p.Glu736Ala |
Missense |
10/23 |
- |
4 |
17-41245351-C-A |
c.2197G>T |
p.Glu733* |
Nonsense |
10/23 |
- |
1 |
17-41245351-C-G |
c.2197G>C |
p.Glu733Gln |
Missense |
10/23 |
- |
1 |
17-41245351-TCTTCT-T |
c.2197_2201del |
p.Glu733Thrfs*5 |
Frameshift |
10/23 |
- |
5 |
17-41245354-TCTTTTTCT-T |
c.2188_2195del |
p.Glu730Argfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41245354-C-A |
c.2194G>T |
p.Glu732* |
Nonsense |
10/23 |
- |
1 |
17-41245354-TCTTTTTCTTCTCTT-T |
c.2188_2201del |
p.Glu730Thrfs*5 |
Frameshift |
10/23 |
- |
1 |
17-41245359-TT-T |
c.2193del |
p.Glu732Lysfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245360-C-A |
c.2188G>T |
p.Glu730* |
Nonsense |
10/23 |
- |
4 |
17-41245361-CTT-C |
c.2186_2187del |
p.Glu729Glyfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41245363-C-A |
c.2185G>T |
p.Glu729* |
Nonsense |
10/23 |
- |
2 |
17-41245368-G-A |
c.2180C>T |
p.Pro727Leu |
Missense |
10/23 |
- |
1 |
17-41245371-AAG-A |
c.2176_2177del |
p.Leu726Serfs*13 |
Frameshift |
10/23 |
- |
1 |
17-41245378-GG-G |
c.2171del |
p.Pro724Leufs*12 |
Frameshift |
10/23 |
- |
2 |
17-41245381-T-C |
c.2167A>G |
p.Asn723Asp |
Missense |
10/23 |
- |
6 |
17-41245381-TT-T |
c.2168del |
p.Asn723Ilefs*13 |
Frameshift |
10/23 |
- |
3 |
17-41245390-C-A |
c.2158G>T |
p.Glu720* |
Nonsense |
10/23 |
- |
4 |
17-41245390-TCTTT-T |
c.2157_2160del |
p.Lys719Asnfs*16 |
Frameshift |
10/23 |
- |
1 |
17-41245393-T-TT |
c.2157dup |
p.Glu720Argfs*6 |
Frameshift |
10/23 |
- |
3 |
17-41245399-C-A |
c.2149G>T |
p.Glu717* |
Nonsense |
10/23 |
- |
1 |
17-41245402-T-G |
c.2146A>C |
p.Ser716Arg |
Missense |
10/23 |
- |
1 |
17-41245400-A-T |
c.2148T>A |
p.Ser716Arg |
Missense |
10/23 |
- |
1 |
17-41245400-A-C |
c.2148T>G |
p.Ser716Arg |
Missense |
10/23 |
- |
1 |
17-41245405-T-G |
c.2143A>C |
p.Thr715Pro |
Missense |
10/23 |
- |
1 |
17-41245409-TTGA-T |
c.2137_2139del |
p.Ser713del |
InFrameDeletion |
10/23 |
- |
1 |
17-41245410-G-C |
c.2138C>G |
p.Ser713* |
Nonsense |
10/23 |
- |
7 |
17-41245414-A-G |
c.2134T>C |
p.Cys712Arg |
Missense |
10/23 |
- |
1 |
17-41245421-A-G |
c.2127T>C |
p.Phe709Phe |
Synonymous |
10/23 |
- |
1 |
17-41245421-A-AT |
c.2126_2127insA |
p.Phe709Leufs*3 |
Frameshift |
10/23 |
- |
1 |
17-41245422-A-AT |
c.2125_2126insA |
p.Phe709Tyrfs*3 |
Frameshift |
10/23 |
- |
5 |
17-41245423-A-ACTA |
c.2125_2126insAGT |
p.Ser708_Phe709ins* |
Nonsense |
10/23 |
- |
1 |
17-41245425-G-T |
c.2123C>A |
p.Ser708Tyr |
Missense |
10/23 |
- |
1 |
17-41245438-TTT-T |
c.2110_2111del |
p.Asn704Cysfs*7 |
Frameshift |
10/23 |
- |
3 |
17-41245439-TT-T |
c.2111del |
p.Asn704Metfs*32 |
Frameshift |
10/23 |
- |
1 |
17-41245442-TAA-CAT |
c.2104_2106delinsATG |
p.Leu702Met |
Missense |
10/23 |
- |
3 |
17-41245447-T-A |
c.2101A>T |
p.Lys701* |
Nonsense |
10/23 |
- |
1 |
17-41245453-C-A |
c.2095G>T |
p.Glu699* |
Nonsense |
10/23 |
- |
1 |
17-41245465-C-A |
c.2083G>T |
p.Asp695Tyr |
Missense |
10/23 |
- |
1 |
17-41245466-G-A |
c.2082C>T |
p.Ser694Ser |
Synonymous |
10/23 |
- |
52 |
17-41245467-CT-GC |
c.2080_2081delinsGC |
p.Ser694Ala |
Missense |
10/23 |
- |
1 |
17-41245468-CT-C |
c.2080del |
p.Ser694Alafs*7 |
Frameshift |
10/23 |
- |
2 |
17-41245469-G-A |
c.2079C>T |
p.Asp693Asp |
Synonymous |
10/23 |
- |
1 |
17-41245470-T-TTA |
c.2077_2078insTA |
p.Asp693Valfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41245471-C-G |
c.2077G>C |
p.Asp693His |
Missense |
10/23 |
- |
1 |
17-41245471-C-A |
c.2077G>T |
p.Asp693Tyr |
Missense |
10/23 |
- |
10 |
17-41245471-C-T |
c.2077G>A |
p.Asp693Asn |
Missense |
10/23 |
- |
55 |
17-41245474-TG-T |
c.2074del |
p.His692Metfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41245475-T-TT |
c.2073dup |
p.His692Thrfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41245475-GT-G |
c.2073del |
p.Arg691Serfs*10 |
Frameshift |
10/23 |
- |
2 |
17-41245477-T-C |
c.2071A>G |
p.Arg691Gly |
Missense |
10/23 |
- |
1 |
17-41245480-TT-T |
c.2071del |
p.Arg691Aspfs*10 |
Frameshift |
10/23 |
- |
10 |
17-41245481-ACT-TGA |
c.2065_2067delinsTCA |
p.Ser689Ser |
Nonsense |
10/23 |
- |
1 |
17-41245488-T-G |
c.2060A>C |
p.Gln687Pro |
Missense |
10/23 |
- |
1 |
17-41245489-G-A |
c.2059C>T |
p.Gln687* |
Nonsense |
10/23 |
- |
2 |
17-41245492-C-T |
c.2056G>A |
p.Glu686Lys |
Missense |
10/23 |
- |
1 |
17-41245499-C-A |
c.2049G>T |
p.Lys683Asn |
Missense |
10/23 |
- |
1 |
17-41245501-TT-T |
c.2048del |
p.Lys683Serfs*18 |
Frameshift |
10/23 |
- |
2 |
17-41245505-A-AA |
c.2043dup |
p.Asn682* |
Nonsense |
10/23 |
- |
1 |
17-41245505-TACT-T |
c.2042_2044del |
p.Ser681del |
InFrameDeletion |
10/23 |
- |
1 |
17-41245507-T-TT |
c.2041dup |
p.Ser681Lysfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41245507-CT-C |
c.2041del |
p.Ser681Valfs*20 |
Frameshift |
10/23 |
- |
1 |
17-41245509-T-TGG |
c.2038_2039insCC |
p.Lys680Thrfs*22 |
Frameshift |
10/23 |
- |
1 |
17-41245511-C-G |
c.2037G>C |
p.Lys679Asn |
Missense |
10/23 |
- |
1 |
17-41245513-T-A |
c.2035A>T |
p.Lys679* |
Nonsense |
10/23 |
- |
4 |
17-41245515-G-GG |
c.2034dup |
p.Lys679Glnfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245519-CCA-C |
c.2028_2029del |
p.Gly677Serfs*5 |
Frameshift |
10/23 |
- |
1 |
17-41245530-TT-T |
c.2019del |
p.Glu673Aspfs*28 |
Frameshift |
10/23 |
- |
3 |
17-41245531-C-A |
c.2017G>T |
p.Glu673* |
Nonsense |
10/23 |
- |
2 |
17-41245534-T-A |
c.2014A>T |
p.Lys672* |
Nonsense |
10/23 |
- |
1 |
17-41245537-C-CCA |
c.2010_2011insTG |
p.Gly671Trpfs*31 |
Frameshift |
10/23 |
- |
1 |
17-41245540-C-A |
c.2008G>T |
p.Glu670* |
Nonsense |
10/23 |
- |
2 |
17-41245543-T-TT |
c.2005dup |
p.Met669Asnfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245545-A-G |
c.2003T>C |
p.Leu668Pro |
Missense |
10/23 |
- |
1 |
17-41245546-G-A |
c.2002C>T |
p.Leu668Phe |
Missense |
10/23 |
- |
8 |
17-41245549-G-A |
c.1999C>T |
p.Gln667* |
Nonsense |
10/23 |
- |
1 |
17-41245552-G-A |
c.1996C>T |
p.Leu666Leu |
Synonymous |
10/23 |
- |
1 |
17-41245556-TT-T |
c.1994del |
p.Asn665Thrfs*36 |
Frameshift |
10/23 |
- |
1 |
17-41245556-TTCTGCTGTG-T |
c.1984_1992del |
p.His662_Arg664del |
InFrameDeletion |
10/23 |
- |
1 |
17-41245556-TTCT-T |
c.1991_1993del |
p.Arg664del |
InFrameDeletion |
10/23 |
- |
1 |
17-41245559-TG-T |
c.1989del |
p.Ser663Argfs*38 |
Frameshift |
10/23 |
- |
1 |
17-41245568-GA-AG |
c.1979_1980delinsCT |
p.Val660Ala |
Missense |
10/23 |
- |
1 |
17-41245570-C-G |
c.1978G>C |
p.Val660Leu |
Missense |
10/23 |
- |
2 |
17-41245571-T-C |
c.1977A>G |
p.Pro659Pro |
Synonymous |
10/23 |
- |
1 |
17-41245574-C-G |
c.1974G>C |
p.Met658Ile |
Missense |
10/23 |
- |
1 |
17-41245582-T-A |
c.1966A>T |
p.Asn656Tyr |
Missense |
10/23 |
- |
1 |
17-41245583-G-T |
c.1965C>A |
p.Tyr655* |
Nonsense |
10/23 |
- |
3 |
17-41245585-TACTTTTTTTTCTTTATCTCTTCACTGCTAGAACAACTATCAATTTGCAATTCAGTACAA-T |
c.1905_1963del |
p.Asn635Lysfs*18 |
Frameshift |
10/23 |
- |
1 |
17-41245585-A-AA |
c.1963dup |
p.Tyr655Leufs*18 |
Frameshift |
10/23 |
- |
1 |
17-41245586-C-CC |
c.1962dup |
p.Tyr655Valfs*18 |
Frameshift |
10/23 |
- |
3 |
17-41245587-T-G |
c.1961A>C |
p.Lys654Thr |
Missense |
10/23 |
- |
2 |
17-41245588-T-C |
c.1960A>G |
p.Lys654Glu |
Missense |
10/23 |
- |
1 |
17-41245588-T-A |
c.1960A>T |
p.Lys654* |
Nonsense |
10/23 |
- |
5 |
17-41245588-T-G |
c.1960A>C |
p.Lys654Gln |
Missense |
10/23 |
- |
2 |
17-41245594-TT-T |
c.1961del |
p.Lys654Serfs*47 |
Frameshift |
10/23 |
- |
20 |
17-41245594-T-TA |
c.1953_1954insT |
p.Lys652* |
Nonsense |
10/23 |
- |
2 |
17-41245594-T-TT |
c.1961dup |
p.Tyr655Valfs*18 |
Frameshift |
10/23 |
- |
13 |
17-41245595-C-CC |
c.1953dup |
p.Lys652Glufs*21 |
Frameshift |
10/23 |
- |
9 |
17-41245595-TCTTT-T |
c.1953_1956del |
p.Lys653Serfs*47 |
Frameshift |
10/23 |
- |
3 |
17-41245595-TC-T |
c.1953del |
p.Lys654Serfs*47 |
Frameshift |
10/23 |
- |
1 |
17-41245596-T-C |
c.1952A>G |
p.Lys651Arg |
Missense |
10/23 |
- |
2 |
17-41245598-T-TT |
c.1952dup |
p.Lys652Glufs*21 |
Frameshift |
10/23 |
- |
1 |
17-41245599-TAT-T |
c.1949_1950del |
p.Ile650Lysfs*22 |
Frameshift |
10/23 |
- |
2 |
17-41245603-C-A |
c.1945G>T |
p.Glu649* |
Nonsense |
10/23 |
- |
2 |
17-41245606-C-G |
c.1942G>C |
p.Glu648Gln |
Missense |
10/23 |
- |
1 |
17-41245607-A-G |
c.1941T>C |
p.Ser647Ser |
Synonymous |
10/23 |
- |
1 |
17-41245607-A-C |
c.1941T>G |
p.Ser647Arg |
Missense |
10/23 |
- |
1 |
17-41245608-CT-GA |
c.1939_1940delinsTC |
p.Ser647Ser |
Missense |
10/23 |
- |
1 |
17-41245614-G-T |
c.1934C>A |
p.Ser645Tyr |
Missense |
10/23 |
- |
3 |
17-41245614-AG-A |
c.1934del |
p.Ser645Leufs*6 |
Frameshift |
10/23 |
- |
5 |
17-41245617-CA-AC |
c.1930_1931delinsGT |
p.Cys644Val |
Missense |
10/23 |
- |
1 |
17-41245621-T-C |
c.1927A>G |
p.Ser643Gly |
Missense |
10/23 |
- |
3 |
17-41245624-C-G |
c.1924G>C |
p.Asp642His |
Missense |
10/23 |
- |
3 |
17-41245632-A-T |
c.1916T>A |
p.Leu639* |
Nonsense |
10/23 |
- |
3 |
17-41245636-C-T |
c.1912G>A |
p.Glu638Lys |
Missense |
10/23 |
- |
2 |
17-41245636-TC-T |
c.1912del |
p.Glu638Asnfs*13 |
Frameshift |
10/23 |
- |
2 |
17-41245643-A-G |
c.1905T>C |
p.Asn635Asn |
Synonymous |
10/23 |
- |
1 |
17-41245651-G-A |
c.1897C>T |
p.Pro633Ser |
Missense |
10/23 |
- |
1 |
17-41245651-G-T |
c.1897C>A |
p.Pro633Thr |
Missense |
10/23 |
- |
1 |
17-41245652-GG-G |
c.1898del |
p.Pro633Hisfs*18 |
Frameshift |
10/23 |
- |
1 |
17-41245653-C-T |
c.1895G>A |
p.Ser632Asn |
Missense |
10/23 |
- |
3 |
17-41245653-CT-GC |
c.1894_1895delinsGC |
p.Ser632Ala |
Missense |
10/23 |
- |
1 |
17-41245655-TTA-T |
c.1892_1893del |
p.Leu631Glnfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245656-A-AA |
c.1892dup |
p.Ser632Lysfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245662-CT-CA |
c.1885delinsT |
p.Arg629* |
Missense |
10/23 |
- |
1 |
17-41245667-G-GGG |
c.1881_1882insCC |
p.Ser628Profs*5 |
Frameshift |
10/23 |
- |
1 |
17-41245667-TGACT-T |
c.1881_1884del |
p.Ser628Glufs*3 |
Frameshift |
10/23 |
- |
1 |
17-41245667-G-C |
c.1881C>G |
p.Val627Val |
Synonymous |
10/23 |
- |
2 |
17-41245667-G-A |
c.1881C>T |
p.Val627Val |
Synonymous |
10/23 |
- |
2 |
17-41245668-A-AGG |
c.1879_1880insCC |
p.Val627Alafs*6 |
Frameshift |
10/23 |
- |
1 |
17-41245669-C-T |
c.1879G>A |
p.Val627Ile |
Missense |
10/23 |
- |
1 |
17-41245669-C-CACTA |
c.1878_1879insTAGT |
p.Val627* |
Nonsense |
10/23 |
- |
1 |
17-41245675-G-A |
c.1873C>T |
p.Leu625Leu |
Synonymous |
10/23 |
- |
1 |
17-41245678-C-T |
c.1870G>A |
p.Glu624Lys |
Missense |
10/23 |
- |
1 |
17-41245678-C-G |
c.1870G>C |
p.Glu624Gln |
Missense |
10/23 |
- |
1 |
17-41245683-G-A |
c.1865C>T |
p.Ala622Val |
Missense |
10/23 |
- |
3 |
17-41245695-C-T |
c.1853G>A |
p.Arg618Lys |
Missense |
10/23 |
- |
1 |
17-41245700-A-C |
c.1848T>G |
p.Ser616Ser |
Synonymous |
10/23 |
- |
1 |
17-41245700-A-G |
c.1848T>C |
p.Ser616Ser |
Synonymous |
10/23 |
- |
1 |
17-41245700-A-T |
c.1848T>A |
p.Ser616Ser |
Synonymous |
10/23 |
- |
1 |
17-41245702-A-C |
c.1846T>G |
p.Ser616Ala |
Missense |
10/23 |
- |
1 |
17-41245703-A-AA |
c.1846dup |
p.Ser616Phefs*9 |
Frameshift |
10/23 |
- |
1 |
17-41245703-A-C |
c.1845T>G |
p.Ser615Ser |
Synonymous |
10/23 |
- |
1 |
17-41245703-A-G |
c.1845T>C |
p.Ser615Ser |
Synonymous |
10/23 |
- |
1 |
17-41245703-A-T |
c.1845T>A |
p.Ser615Ser |
Synonymous |
10/23 |
- |
1 |
17-41245703-AAGA-A |
c.1846_1848del |
p.Ser616del |
InFrameDeletion |
10/23 |
- |
3 |
17-41245707-T-C |
c.1841A>G |
p.Lys614Arg |
Missense |
10/23 |
- |
1 |
17-41245708-T-A |
c.1840A>T |
p.Lys614* |
Nonsense |
10/23 |
- |
1 |
17-41245710-C-A |
c.1838G>T |
p.Arg613Met |
Missense |
10/23 |
- |
1 |
17-41245712-C-T |
c.1836G>A |
p.Arg612Arg |
Synonymous |
10/23 |
- |
1 |
17-41245714-T-G |
c.1834A>C |
p.Arg612Arg |
Synonymous |
10/23 |
- |
1 |
17-41245714-T-C |
c.1834A>G |
p.Arg612Gly |
Missense |
10/23 |
- |
2 |
17-41245717-AG-A |
c.1831del |
p.Leu611* |
Frameshift |
10/23 |
- |
2 |
17-41245722-T-C |
c.1826A>G |
p.Asn609Ser |
Missense |
10/23 |
- |
2 |
17-41245724-TCTTT-T |
c.1823_1826del |
p.Lys608Ilefs*3 |
Frameshift |
10/23 |
- |
1 |
17-41245728-TT-GC |
c.1819_1820delinsGC |
p.Lys607Ala |
Missense |
10/23 |
- |
1 |
17-41245729-T-A |
c.1819A>T |
p.Lys607* |
Nonsense |
10/23 |
- |
1 |
17-41245729-TT-T |
c.1823del |
p.Lys608Argfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41245732-GG-G |
c.1817del |
p.Pro606Leufs*6 |
Frameshift |
10/23 |
- |
6 |
17-41245734-TG-T |
c.1814del |
p.Ala605Aspfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41245735-C-G |
c.1813G>C |
p.Ala605Pro |
Missense |
10/23 |
- |
1 |
17-41245735-GC-G |
c.1813del |
p.Ala605Hisfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41245745-GTG-TAA |
c.1801_1803delinsTTA |
p.His601Leu |
Nonsense |
10/23 |
- |
1 |
17-41245750-T-A |
c.1798A>T |
p.Ile600Phe |
Missense |
10/23 |
- |
1 |
17-41245754-TT-T |
c.1796del |
p.Asn599Ilefs*13 |
Frameshift |
10/23 |
- |
1 |
17-41245755-A-C |
c.1793T>G |
p.Leu598* |
Nonsense |
10/23 |
- |
5 |
17-41245755-A-T |
c.1793T>A |
p.Leu598* |
Nonsense |
10/23 |
- |
6 |
17-41245759-C-A |
c.1789G>T |
p.Glu597* |
Nonsense |
10/23 |
- |
2 |
17-41245759-C-T |
c.1789G>A |
p.Glu597Lys |
Missense |
10/23 |
- |
7 |
17-41245762-G-C |
c.1786C>G |
p.Leu596Val |
Missense |
10/23 |
- |
1 |
17-41245765-TCCATATT-T |
c.1779_1785del |
p.Met594Serfs*3 |
Frameshift |
10/23 |
- |
1 |
17-41245776-A-G |
c.1772T>C |
p.Ile591Thr |
Missense |
10/23 |
- |
1 |
17-41245792-G-A |
c.1756C>T |
p.Pro586Ser |
Missense |
10/23 |
- |
1 |
17-41245792-GG-G |
c.1757del |
p.Pro586Leufs*2 |
Frameshift |
10/23 |
- |
1 |
17-41245793-GTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTT-G |
c.1697_1755del |
p.Lys566Thrfs*22 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
10/23 |
- |
1 |
17-41245799-T-C |
c.1749A>G |
p.Lys583Lys |
Synonymous |
10/23 |
- |
1 |
17-41245801-T-A |
c.1747A>T |
p.Lys583* |
Nonsense |
10/23 |
- |
1 |
17-41245807-T-A |
c.1741A>T |
p.Lys581* |
Nonsense |
10/23 |
- |
1 |
17-41245808-TGAA-T |
c.1738_1740del |
p.Phe580del |
InFrameDeletion |
10/23 |
- |
1 |
17-41245816-A-C |
c.1732T>G |
p.Ser578Ala |
Missense |
10/23 |
- |
1 |
17-41245819-C-T |
c.1729G>A |
p.Glu577Lys |
Missense |
10/23 |
- |
1 |
17-41245819-C-G |
c.1729G>C |
p.Glu577Gln |
Missense |
10/23 |
- |
2 |
17-41245831-GA-G |
c.1717del |
p.Ser573Hisfs*15 |
Frameshift |
10/23 |
- |
1 |
17-41245833-TT-T |
c.1716del |
p.Glu572Aspfs*16 |
Frameshift |
10/23 |
- |
1 |
17-41245833-T-TT |
c.1716dup |
p.Ser573Ilefs*13 |
Frameshift |
10/23 |
- |
1 |
17-41245834-TCTATT-T |
c.1713_1717del |
p.Glu572Thrfs*12 |
Frameshift |
10/23 |
- |
2 |
17-41245836-A-G |
c.1712T>C |
p.Ile571Thr |
Missense |
10/23 |
- |
2 |
17-41245845-G-A |
c.1703C>T |
p.Pro568Leu |
Missense |
10/23 |
- |
2 |
17-41245852-TT-T |
c.1700del |
p.Asn567Ilefs*5 |
Frameshift |
10/23 |
- |
1 |
17-41245853-C-CC |
c.1695dup |
p.Lys566Glufs*4 |
Frameshift |
10/23 |
- |
4 |
17-41245855-C-A |
c.1693G>T |
p.Glu565* |
Nonsense |
10/23 |
- |
1 |
17-41245855-TCA-T |
c.1692_1693del |
p.Asn564Lysfs*5 |
Frameshift |
10/23 |
- |
1 |
17-41245860-TG-GT |
c.1687_1688delinsAC |
p.Gln563Thr |
Missense |
10/23 |
- |
1 |
17-41245861-G-A |
c.1687C>T |
p.Gln563* |
Nonsense |
10/23 |
- |
54 |
17-41245868-AA-A |
c.1681del |
p.Ser561Leufs*11 |
Frameshift |
10/23 |
- |
1 |
17-41245869-T-A |
c.1679A>T |
p.Asp560Val |
Missense |
10/23 |
- |
1 |
17-41245874-CTTTT-C |
c.1671_1674del |
p.Lys558Valfs*13 |
Frameshift |
10/23 |
- |
1 |
17-41245877-TT-T |
c.1674del |
p.Gly559Valfs*13 |
Frameshift |
10/23 |
- |
5 |
17-41245877-T-TT |
c.1674dup |
p.Gly559Argfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41245879-T-G |
c.1669A>C |
p.Thr557Pro |
Missense |
10/23 |
- |
1 |
17-41245879-T-C |
c.1669A>G |
p.Thr557Ala |
Missense |
10/23 |
- |
1 |
17-41245887-T-C |
c.1661A>G |
p.Glu554Gly |
Missense |
10/23 |
- |
1 |
17-41245888-C-A |
c.1660G>T |
p.Glu554* |
Nonsense |
10/23 |
- |
2 |
17-41245892-GA-G |
c.1656del |
p.His553Metfs*19 |
Frameshift |
10/23 |
- |
1 |
17-41245896-CT-GC |
c.1651_1652delinsGC |
p.Ser551Ala |
Missense |
10/23 |
- |
1 |
17-41245900-T-G |
c.1648A>C |
p.Asn550His |
Missense |
10/23 |
- |
20 |
17-41245914-CACTTGACCATTCTGCTC-C |
c.1620_1636del |
p.Glu540Aspfs*5 |
Frameshift |
10/23 |
- |
1 |
17-41245916-T-A |
c.1632A>T |
p.Gln544His |
Missense |
10/23 |
- |
2 |
17-41245918-G-A |
c.1630C>T |
p.Gln544* |
Nonsense |
10/23 |
- |
1 |
17-41245918-TG-T |
c.1630del |
p.Gln544Lysfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41245925-C-CC |
c.1623dup |
p.Asn542Glufs*9 |
Frameshift |
10/23 |
- |
3 |
17-41245927-G-A |
c.1621C>T |
p.Gln541* |
Nonsense |
10/23 |
- |
1 |
17-41245933-T-C |
c.1615A>G |
p.Thr539Ala |
Missense |
10/23 |
- |
1 |
17-41245936-G-A |
c.1612C>T |
p.Gln538* |
Nonsense |
10/23 |
- |
6 |
17-41245945-C-A |
c.1603G>T |
p.Gly535* |
Nonsense |
10/23 |
- |
1 |
17-41245947-T-C |
c.1601A>G |
p.Gln534Arg |
Missense |
10/23 |
- |
1 |
17-41245948-G-A |
c.1600C>T |
p.Gln534* |
Nonsense |
10/23 |
- |
1 |
17-41245956-CA-C |
c.1592del |
p.Met531Argfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41245957-T-C |
c.1591A>G |
p.Met531Val |
Missense |
10/23 |
- |
1 |
17-41245960-C-A |
c.1588G>T |
p.Glu530* |
Nonsense |
10/23 |
- |
1 |
17-41245966-T-C |
c.1582A>G |
p.Thr528Ala |
Missense |
10/23 |
- |
1 |
17-41245972-G-A |
c.1576C>T |
p.Gln526* |
Nonsense |
10/23 |
- |
1 |
17-41245974-AA-A |
c.1575del |
p.Gln526Lysfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41245975-C-T |
c.1573G>A |
p.Val525Ile |
Missense |
10/23 |
- |
2 |
17-41245976-T-C |
c.1572A>G |
p.Ala524Ala |
Synonymous |
10/23 |
- |
1 |
17-41245982-AA-A |
c.1568del |
p.Leu523Trpfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41245984-CTGC-TTTA |
c.1561_1564delinsTAAA |
p.Ala521_Asp522delins* |
MultiAAMissense |
10/23 |
- |
1 |
17-41245984-C-T |
c.1564G>A |
p.Asp522Asn |
Missense |
10/23 |
- |
2 |
17-41245986-G-T |
c.1562C>A |
p.Ala521Glu |
Missense |
10/23 |
- |
1 |
17-41245987-C-A |
c.1561G>T |
p.Ala521Ser |
Missense |
10/23 |
- |
1 |
17-41245992-TT-GC |
c.1555_1556delinsGC |
p.Lys519Ala |
Missense |
10/23 |
- |
1 |
17-41245993-TT-T |
c.1556del |
p.Lys519Argfs*13 |
Frameshift |
10/23 |
- |
9 |
17-41245997-A-T |
c.1551T>A |
p.Phe517Leu |
Missense |
10/23 |
- |
1 |
17-41246005-C-A |
c.1543G>T |
p.Glu515* |
Nonsense |
10/23 |
- |
1 |
17-41246007-G-C |
c.1541C>G |
p.Pro514Arg |
Missense |
10/23 |
- |
1 |
17-41246011-G-C |
c.1537C>G |
p.His513Asp |
Missense |
10/23 |
- |
1 |
17-41246011-G-A |
c.1537C>T |
p.His513Tyr |
Missense |
10/23 |
- |
1 |
17-41246014-G-A |
c.1534C>T |
p.Leu512Phe |
Missense |
10/23 |
- |
2 |
17-41246018-T-G |
c.1530A>C |
p.Ser510Ser |
Synonymous |
10/23 |
- |
1 |
17-41246018-CT-C |
c.1530del |
p.Gly511Alafs*21 |
Frameshift |
10/23 |
- |
1 |
17-41246022-GT-GA |
c.1525delinsT |
p.Thr509Ser |
Missense |
10/23 |
- |
1 |
17-41246023-T-C |
c.1525A>G |
p.Thr509Ala |
Missense |
10/23 |
- |
2 |
17-41246028-C-A |
c.1520G>T |
p.Arg507Ile |
Missense |
10/23 |
- |
1 |
17-41246029-T-A |
c.1519A>T |
p.Arg507* |
Nonsense |
10/23 |
- |
1 |
17-41246031-CT-CA |
c.1516delinsT |
p.Arg506Trp |
Missense |
10/23 |
- |
6 |
17-41246032-T-A |
c.1516A>T |
p.Arg506Trp |
Missense |
10/23 |
- |
1 |
17-41246032-T-C |
c.1516A>G |
p.Arg506Gly |
Missense |
10/23 |
- |
1 |
17-41246035-T-A |
c.1513A>T |
p.Lys505* |
Nonsense |
10/23 |
- |
4 |
17-41246035-TT-T |
c.1516del |
p.Arg506Glyfs*26 |
Frameshift |
10/23 |
- |
2 |
17-41246037-C-T |
c.1511G>A |
p.Arg504His |
Missense |
10/23 |
- |
7 |
17-41246037-C-CC |
c.1511dup |
p.Lys505* |
Nonsense |
10/23 |
- |
3 |
17-41246038-CG-C |
c.1510del |
p.Arg504Valfs*28 |
Frameshift |
10/23 |
- |
2 |
17-41246038-G-A |
c.1510C>T |
p.Arg504Cys |
Missense |
10/23 |
- |
1 |
17-41246039-GCTTTA-G |
c.1505_1509del |
p.Leu502Serfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41246041-TTT-T |
c.1507_1508del |
p.Lys503Alafs*2 |
Frameshift |
10/23 |
- |
1 |
17-41246043-A-C |
c.1505T>G |
p.Leu502* |
Nonsense |
10/23 |
- |
3 |
17-41246043-TAATT-T |
c.1504_1507del |
p.Leu502Serfs*29 |
Frameshift |
10/23 |
- |
4 |
17-41246043-AA-GC |
c.1504_1505delinsGC |
p.Leu502Ala |
Missense |
10/23 |
- |
1 |
17-41246044-AATTTA-A |
c.1504_1508del |
p.Leu502Alafs*2 |
Frameshift |
10/23 |
- |
13 |
17-41246045-T-C |
c.1503A>G |
p.Lys501Lys |
Synonymous |
10/23 |
- |
1 |
17-41246051-T-TT |
c.1499dup |
p.Asn500Lysfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41246052-G-T |
c.1496C>A |
p.Thr499Lys |
Missense |
10/23 |
- |
1 |
17-41246052-TG-T |
c.1496del |
p.Thr499Lysfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41246055-GAG-G |
c.1493_1494del |
p.Leu498Hisfs*3 |
Frameshift |
10/23 |
- |
1 |
17-41246059-G-T |
c.1489C>A |
p.Pro497Thr |
Missense |
10/23 |
- |
1 |
17-41246061-C-A |
c.1487G>T |
p.Arg496Leu |
Missense |
10/23 |
- |
1 |
17-41246061-C-T |
c.1487G>A |
p.Arg496His |
Missense |
10/23 |
- |
9 |
17-41246062-G-A |
c.1486C>T |
p.Arg496Cys |
Missense |
10/23 |
- |
9 |
17-41246062-G-T |
c.1486C>A |
p.Arg496Ser |
Missense |
10/23 |
- |
1 |
17-41246068-G-A |
c.1480C>T |
p.Gln494* |
Nonsense |
10/23 |
- |
4 |
17-41246072-TT-T |
c.1477del |
p.Ile493Tyrfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41246077-G-A |
c.1471C>T |
p.Gln491* |
Nonsense |
10/23 |
- |
7 |
17-41246083-C-A |
c.1465G>T |
p.Glu489* |
Nonsense |
10/23 |
- |
5 |
17-41246086-T-TT |
c.1462dup |
p.Thr488Asnfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41246086-T-C |
c.1462A>G |
p.Thr488Ala |
Missense |
10/23 |
- |
1 |
17-41246092-A-G |
c.1456T>C |
p.Phe486Leu |
Missense |
10/23 |
- |
19 |
17-41246098-C-A |
c.1450G>T |
p.Gly484* |
Nonsense |
10/23 |
- |
3 |
17-41246103-AATTA-A |
c.1444_1447del |
p.Ile482* |
Frameshift |
10/23 |
- |
1 |
17-41246107-G-C |
c.1441C>G |
p.Leu481Val |
Missense |
10/23 |
- |
1 |
17-41246112-T-TT |
c.1439dup |
p.Asn480Lysfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41246113-TCA-T |
c.1434_1435del |
p.Glu479Lysfs*10 |
Frameshift |
10/23 |
- |
1 |
17-41246119-C-T |
c.1429G>A |
p.Val477Ile |
Missense |
10/23 |
- |
1 |
17-41246121-T-C |
c.1427A>G |
p.His476Arg |
Missense |
10/23 |
- |
2 |
17-41246125-T-A |
c.1423A>T |
p.Ser475Cys |
Missense |
10/23 |
- |
1 |
17-41246127-A-C |
c.1421T>G |
p.Leu474* |
Nonsense |
10/23 |
- |
1 |
17-41246129-G-A |
c.1419C>T |
p.Asn473Asn |
Synonymous |
10/23 |
- |
1 |
17-41246130-T-C |
c.1418A>G |
p.Asn473Ser |
Missense |
10/23 |
- |
3 |
17-41246131-T-A |
c.1417A>T |
p.Asn473Tyr |
Missense |
10/23 |
- |
1 |
17-41246146-TT-T |
c.1403del |
p.Lys468Argfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41246148-CTTC-C |
c.1402_1404del |
p.Lys468del |
InFrameDeletion |
10/23 |
- |
1 |
17-41246149-TTCCGATAGGTTTTCCCAAATATTTTGTCTTCAATATTACTCT-T |
c.1361_1402del |
p.Ser454_Lys467del |
InFrameDeletion |
10/23 |
- |
1 |
17-41246149-T-A |
c.1399A>T |
p.Lys467* |
Nonsense |
10/23 |
- |
2 |
17-41246151-C-T |
c.1397G>A |
p.Arg466Gln |
Missense |
10/23 |
- |
1 |
17-41246152-G-C |
c.1396C>G |
p.Arg466Gly |
Missense |
10/23 |
- |
1 |
17-41246152-CG-C |
c.1396del |
p.Arg466Glyfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41246160-TTT-T |
c.1389_1390del |
p.Lys463Asnfs*16 |
Frameshift |
10/23 |
- |
1 |
17-41246161-TT-T |
c.1390del |
p.Thr464Profs*11 |
Frameshift |
10/23 |
- |
1 |
17-41246161-T-TT |
c.1390dup |
p.Thr464Asnfs*16 |
Frameshift |
10/23 |
- |
1 |
17-41246164-C-T |
c.1384G>A |
p.Gly462Arg |
Missense |
10/23 |
- |
1 |
17-41246164-C-G |
c.1384G>C |
p.Gly462Arg |
Missense |
10/23 |
- |
1 |
17-41246166-A-ATT |
c.1381_1382insAA |
p.Phe461* |
Nonsense |
10/23 |
- |
1 |
17-41246167-A-G |
c.1381T>C |
p.Phe461Leu |
Missense |
10/23 |
- |
1 |
17-41246165-A-T |
c.1383T>A |
p.Phe461Leu |
Missense |
10/23 |
- |
1 |
17-41246165-A-C |
c.1383T>G |
p.Phe461Leu |
Missense |
10/23 |
- |
1 |
17-41246168-T-TT |
c.1380dup |
p.Phe461Ilefs*19 |
Frameshift |
10/23 |
- |
6 |
17-41246173-T-TT |
c.1378dup |
p.Ile460Asnfs*20 |
Frameshift |
10/23 |
- |
2 |
17-41246174-TG-T |
c.1374del |
p.Asp458Glufs*17 |
Frameshift |
10/23 |
- |
5 |
17-41246175-T-C |
c.1373A>G |
p.Asp458Gly |
Missense |
10/23 |
- |
1 |
17-41246178-T-C |
c.1370A>G |
p.Glu457Gly |
Missense |
10/23 |
- |
1 |
17-41246181-A-G |
c.1367T>C |
p.Ile456Thr |
Missense |
10/23 |
- |
1 |
17-41246187-C-T |
c.1361G>A |
p.Ser454Asn |
Missense |
10/23 |
- |
1 |
17-41246187-AC-A |
c.1361del |
p.Ser454Ilefs*21 |
Frameshift |
10/23 |
- |
1 |
17-41246188-T-TTTA |
c.1359_1360insTAA |
p.Glu453_Ser454ins* |
InFrameInsertion |
10/23 |
- |
1 |
17-41246191-TCT-T |
c.1360_1361del |
p.Ser454* |
Frameshift |
10/23 |
- |
4 |
17-41246194-AC-A |
c.1354del |
p.Val452* |
Frameshift |
10/23 |
- |
1 |
17-41246194-C-G |
c.1354G>C |
p.Val452Leu |
Missense |
10/23 |
- |
1 |
17-41246196-G-A |
c.1352C>T |
p.Ser451Leu |
Missense |
10/23 |
- |
1 |
17-41246196-G-T |
c.1352C>A |
p.Ser451* |
Nonsense |
10/23 |
- |
2 |
17-41246207-A-AC |
c.1340_1341insG |
p.His448Serfs*8 |
Frameshift |
10/23 |
- |
1 |
17-41246208-A-G |
c.1340T>C |
p.Val447Ala |
Missense |
10/23 |
- |
1 |
17-41246211-C-A |
c.1337G>T |
p.Arg446Ile |
Missense |
10/23 |
- |
1 |
17-41246215-C-G |
c.1333G>C |
p.Glu445Gln |
Missense |
10/23 |
- |
1 |
17-41246221-T-A |
c.1327A>T |
p.Lys443* |
Nonsense |
10/23 |
- |
2 |
17-41246231-AA-A |
c.1319del |
p.Leu440* |
Frameshift |
10/23 |
- |
2 |
17-41246235-CTCAT-C |
c.1310_1313del |
p.His437Argfs*3 |
Frameshift |
10/23 |
- |
2 |
17-41246239-TGAGGA-T |
c.1305_1309del |
p.Asp435Glufs*2 |
Frameshift |
10/23 |
- |
1 |
17-41246239-TG-T |
c.1309del |
p.His437Metfs*4 |
Frameshift |
10/23 |
- |
2 |
17-41246245-TCACT-T |
c.1301_1304del |
p.Ser434Ilefs*6 |
Frameshift |
10/23 |
- |
1 |
17-41246245-C-A |
c.1303G>T |
p.Asp435Tyr |
Missense |
10/23 |
- |
1 |
17-41246250-G-GG |
c.1299dup |
p.Ser434Glnfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41246251-C-T |
c.1297G>A |
p.Ala433Thr |
Missense |
10/23 |
- |
1 |
17-41246256-A-C |
c.1292T>G |
p.Leu431* |
Nonsense |
10/23 |
- |
2 |
17-41246257-A-AA |
c.1292dup |
p.Leu431Phefs*5 |
Frameshift |
10/23 |
- |
5 |
17-41246261-CT-C |
c.1287del |
p.Ile429Metfs*12 |
Frameshift |
10/23 |
- |
2 |
17-41246261-T-TT |
c.1287dup |
p.Asp430Argfs*6 |
Frameshift |
10/23 |
- |
2 |
17-41246271-TG-T |
c.1277del |
p.Ser426* |
Frameshift |
10/23 |
- |
1 |
17-41246280-G-A |
c.1268C>T |
p.Ser423Phe |
Missense |
10/23 |
- |
1 |
17-41246282-A-C |
c.1266T>G |
p.Tyr422* |
Nonsense |
10/23 |
- |
1 |
17-41246285-T-G |
c.1263A>C |
p.Glu421Asp |
Missense |
10/23 |
- |
2 |
17-41246290-C-A |
c.1258G>T |
p.Asp420Tyr |
Missense |
10/23 |
- |
6 |
17-41246296-C-A |
c.1252G>T |
p.Glu418* |
Nonsense |
10/23 |
- |
1 |
17-41246297-CATT-C |
c.1249_1251del |
p.Asn417del |
InFrameDeletion |
10/23 |
- |
1 |
17-41246298-T-C |
c.1250A>G |
p.Asn417Ser |
Missense |
10/23 |
- |
2 |
17-41246313-A-G |
c.1235T>C |
p.Val412Ala |
Missense |
10/23 |
- |
1 |
17-41246325-T-C |
c.1223A>G |
p.Lys408Arg |
Missense |
10/23 |
- |
1 |
17-41246331-TT-GC |
c.1216_1217delinsGC |
p.Asn406Ala |
Missense |
10/23 |
- |
1 |
17-41246334-G-C |
c.1214C>G |
p.Ser405* |
Nonsense |
10/23 |
- |
1 |
17-41246335-GATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAG-G |
c.1175_1214del |
p.Leu392Glnfs*5 |
Frameshift |
10/23 |
- |
16 |
17-41246337-T-C |
c.1211A>G |
p.Glu404Gly |
Missense |
10/23 |
- |
1 |
17-41246337-T-TAG |
c.1210_1211insCT |
p.Glu404Alafs*7 |
Frameshift |
10/23 |
- |
1 |
17-41246339-CA-C |
c.1209del |
p.Glu404Asnfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41246340-G-A |
c.1208C>T |
p.Ser403Phe |
Missense |
10/23 |
- |
1 |
17-41246343-TC-AG |
c.1204_1205delinsCT |
p.Glu402Leu |
Missense |
10/23 |
- |
1 |
17-41246344-C-A |
c.1204G>T |
p.Glu402* |
Nonsense |
10/23 |
- |
1 |
17-41246346-C-G |
c.1202G>C |
p.Gly401Ala |
Missense |
10/23 |
- |
1 |
17-41246346-C-T |
c.1202G>A |
p.Gly401Glu |
Missense |
10/23 |
- |
2 |
17-41246347-CC-C |
c.1204del |
p.Glu402Serfs*8 |
Frameshift |
10/23 |
- |
3 |
17-41246349-T-G |
c.1199A>C |
p.Asp400Ala |
Missense |
10/23 |
- |
1 |
17-41246352-ATGTGAGTCAT-A |
c.1187_1196del |
p.Asp396Valfs*11 |
Frameshift |
10/23 |
- |
1 |
17-41246355-G-C |
c.1193C>G |
p.Ser398* |
Nonsense |
10/23 |
- |
1 |
17-41246355-G-T |
c.1193C>A |
p.Ser398* |
Nonsense |
10/23 |
- |
2 |
17-41246356-A-C |
c.1192T>G |
p.Ser398Ala |
Missense |
10/23 |
- |
1 |
17-41246358-GT-G |
c.1190del |
p.Asp397Alafs*13 |
Frameshift |
10/23 |
- |
1 |
17-41246360-CA-C |
c.1188del |
p.Asp396Glufs*14 |
Frameshift |
10/23 |
- |
1 |
17-41246370-A-C |
c.1178T>G |
p.Leu393* |
Nonsense |
10/23 |
- |
1 |
17-41246370-A-T |
c.1178T>A |
p.Leu393* |
Nonsense |
10/23 |
- |
1 |
17-41246379-T-G |
c.1169A>C |
p.Asp390Ala |
Missense |
10/23 |
- |
1 |
17-41246382-C-A |
c.1166G>T |
p.Ser389Ile |
Missense |
10/23 |
- |
1 |
17-41246389-A-C |
c.1159T>G |
p.Ser387Ala |
Missense |
10/23 |
- |
1 |
17-41246392-AA-A |
c.1159del |
p.Ser387Profs*7 |
Frameshift |
10/23 |
- |
1 |
17-41246393-C-T |
c.1155G>A |
p.Trp385* |
Nonsense |
10/23 |
- |
4 |
17-41246397-T-C |
c.1151A>G |
p.Glu384Gly |
Missense |
10/23 |
- |
1 |
17-41246399-CAT-C |
c.1148_1149del |
p.Asn383Argfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41246399-AT-GG |
c.1148_1149delinsCC |
p.Asn383Thr |
Missense |
10/23 |
- |
1 |
17-41246408-TC-T |
c.1140del |
p.Val382Leufs*12 |
Frameshift |
10/23 |
- |
1 |
17-41246408-C-T |
c.1140G>A |
p.Gln380Gln |
Synonymous |
10/23 |
- |
1 |
17-41246408-C-CC |
c.1140dup |
p.Lys381Glufs*3 |
Frameshift |
10/23 |
- |
3 |
17-41246411-A-C |
c.1137T>G |
p.Ile379Met |
Missense |
10/23 |
- |
8 |
17-41246412-AATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTCTCTGA-A |
c.1086_1141del |
p.Asn363Serfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41246413-T-A |
c.1135A>T |
p.Ile379Phe |
Missense |
10/23 |
- |
1 |
17-41246413-T-TT |
c.1135dup |
p.Ile379Asnfs*5 |
Frameshift |
10/23 |
- |
2 |
17-41246413-AT-A |
c.1135del |
p.Ile379Phefs*15 |
Frameshift |
10/23 |
- |
1 |
17-41246414-G-C |
c.1134C>G |
p.Ser378Arg |
Missense |
10/23 |
- |
1 |
17-41246419-T-TT |
c.1129dup |
p.Ser377Lysfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41246423-T-TT |
c.1127dup |
p.Asn376Lysfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41246423-TT-T |
c.1127del |
p.Asn376Ilefs*18 |
Frameshift |
10/23 |
- |
2 |
17-41246424-A-T |
c.1124T>A |
p.Leu375Gln |
Missense |
10/23 |
- |
1 |
17-41246424-AG-GG |
c.1124delinsC |
p.Leu375Pro |
Missense |
10/23 |
- |
1 |
17-41246425-G-T |
c.1123C>A |
p.Leu375Ile |
Missense |
10/23 |
- |
1 |
17-41246425-AG-A |
c.1123del |
p.Leu375* |
Frameshift |
10/23 |
- |
1 |
17-41246427-GT-TA |
c.1120_1121delinsTA |
p.Thr374* |
Nonsense |
10/23 |
- |
1 |
17-41246427-G-A |
c.1121C>T |
p.Thr374Ile |
Missense |
10/23 |
- |
1 |
17-41246432-CCA-AAC |
c.1114_1116delinsGTT |
p.Trp372Val |
Missense |
10/23 |
- |
1 |
17-41246432-C-T |
c.1116G>A |
p.Trp372* |
Nonsense |
10/23 |
- |
9 |
17-41246433-C-T |
c.1115G>A |
p.Trp372* |
Nonsense |
10/23 |
- |
8 |
17-41246437-G-A |
c.1111C>T |
p.Pro371Ser |
Missense |
10/23 |
- |
1 |
17-41246439-A-G |
c.1109T>C |
p.Val370Ala |
Missense |
10/23 |
- |
1 |
17-41246441-A-AC |
c.1106_1107insG |
p.Asp369Glufs*9 |
Frameshift |
10/23 |
- |
2 |
17-41246441-CATC-C |
c.1106_1108del |
p.Asp369del |
InFrameDeletion |
10/23 |
- |
3 |
17-41246443-C-T |
c.1105G>A |
p.Asp369Asn |
Missense |
10/23 |
- |
3 |
17-41246446-C-A |
c.1102G>T |
p.Glu368* |
Nonsense |
10/23 |
- |
1 |
17-41246448-AG-A |
c.1100del |
p.Thr367Metfs*7 |
Frameshift |
10/23 |
- |
2 |
17-41246448-G-A |
c.1100C>T |
p.Thr367Ile |
Missense |
10/23 |
- |
1 |
17-41246452-C-T |
c.1096G>A |
p.Asp366Asn |
Missense |
10/23 |
- |
1 |
17-41246455-T-G |
c.1093A>C |
p.Arg365Arg |
Synonymous |
10/23 |
- |
1 |
17-41246458-GGATTCTCTGAG-G |
c.1082_1092del |
p.Ser361* |
Frameshift |
10/23 |
- |
3 |
17-41246458-G-C |
c.1090C>G |
p.Pro364Ala |
Missense |
10/23 |
- |
1 |
17-41246460-T-C |
c.1088A>G |
p.Asn363Ser |
Missense |
10/23 |
- |
2 |
17-41246461-TT-T |
c.1088del |
p.Asn363Ilefs*11 |
Frameshift |
10/23 |
- |
3 |
17-41246464-C-T |
c.1084G>A |
p.Glu362Lys |
Missense |
10/23 |
- |
1 |
17-41246466-G-C |
c.1082C>G |
p.Ser361* |
Nonsense |
10/23 |
- |
2 |
17-41246467-A-G |
c.1081T>C |
p.Ser361Pro |
Missense |
10/23 |
- |
1 |
17-41246467-A-C |
c.1081T>G |
p.Ser361Ala |
Missense |
10/23 |
- |
1 |
17-41246470-A-C |
c.1078T>G |
p.Cys360Gly |
Missense |
10/23 |
- |
1 |
17-41246472-G-A |
c.1076C>T |
p.Pro359Leu |
Missense |
10/23 |
- |
1 |
17-41246473-GGCAGTTTCTG-G |
c.1068_1077del |
p.Gln356Hisfs*15 |
Frameshift |
10/23 |
- |
1 |
17-41246476-AG-A |
c.1072del |
p.Leu358Cysfs*16 |
Frameshift |
10/23 |
- |
4 |
17-41246480-C-T |
c.1068G>A |
p.Gln356Gln |
Synonymous |
10/23 |
- |
1 |
17-41246481-T-C |
c.1067A>G |
p.Gln356Arg |
Missense |
10/23 |
- |
93 |
17-41246481-T-A |
c.1067A>T |
p.Gln356Leu |
Missense |
10/23 |
- |
1 |
17-41246481-T-G |
c.1067A>C |
p.Gln356Pro |
Missense |
10/23 |
- |
1 |
17-41246482-G-A |
c.1066C>T |
p.Gln356* |
Nonsense |
10/23 |
- |
1 |
17-41246484-T-C |
c.1064A>G |
p.Lys355Arg |
Missense |
10/23 |
- |
1 |
17-41246485-T-G |
c.1063A>C |
p.Lys355Gln |
Missense |
10/23 |
- |
1 |
17-41246489-C-T |
c.1059G>A |
p.Trp353* |
Nonsense |
10/23 |
- |
2 |
17-41246490-C-T |
c.1058G>A |
p.Trp353* |
Nonsense |
10/23 |
- |
4 |
17-41246494-C-A |
c.1054G>T |
p.Glu352* |
Nonsense |
10/23 |
- |
5 |
17-41246502-T-G |
c.1046A>C |
p.Glu349Ala |
Missense |
10/23 |
- |
1 |
17-41246508-CAG-C |
c.1039_1040del |
p.Leu347Valfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41246508-CA-C |
c.1040del |
p.Leu347Argfs*27 |
Frameshift |
10/23 |
- |
1 |
17-41246511-G-C |
c.1037C>G |
p.Pro346Arg |
Missense |
10/23 |
- |
1 |
17-41246512-GG-G |
c.1039del |
p.Leu347Cysfs*27 |
Frameshift |
10/23 |
- |
1 |
17-41246512-G-T |
c.1036C>A |
p.Pro346Thr |
Missense |
10/23 |
- |
1 |
17-41246512-G-A |
c.1036C>T |
p.Pro346Ser |
Missense |
10/23 |
- |
3 |
17-41246513-A-AG |
c.1034_1035insC |
p.Pro346Serfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41246515-C-A |
c.1033G>T |
p.Asp345Tyr |
Missense |
10/23 |
- |
1 |
17-41246520-TT-TG |
c.1027delinsC |
p.Asn343His |
Missense |
10/23 |
- |
1 |
17-41246525-A-G |
c.1023T>C |
p.Asp341Asp |
Synonymous |
10/23 |
- |
1 |
17-41246528-T-G |
c.1020A>C |
p.Val340Val |
Synonymous |
10/23 |
- |
1 |
17-41246531-CC-C |
c.1018del |
p.Val340* |
Frameshift |
10/23 |
- |
2 |
17-41246531-C-CG |
c.1016_1017insC |
p.Lys339Asnfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41246533-T-TA |
c.1014_1015insT |
p.Lys339* |
Nonsense |
10/23 |
- |
1 |
17-41246535-TTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTT-T |
c.957_1015del |
p.Asn319Lysfs*7 |
Frameshift |
10/23 |
- |
1 |
17-41246536-T-A |
c.1012A>T |
p.Lys338* |
Nonsense |
10/23 |
- |
2 |
17-41246538-TT-T |
c.1016del |
p.Lys339Argfs*2 |
Frameshift |
10/23 |
- |
2 |
17-41246538-T-TT |
c.1016dup |
p.Val340Glyfs*6 |
Frameshift |
10/23 |
- |
19 |
17-41246540-CT-C |
c.1008del |
p.Glu337Lysfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41246540-T-TT |
c.1008dup |
p.Glu337Argfs*9 |
Frameshift |
10/23 |
- |
1 |
17-41246544-CT-GC |
c.1003_1004delinsGC |
p.Ser335Ala |
Missense |
10/23 |
- |
1 |
17-41246547-G-T |
c.1001C>A |
p.Pro334His |
Missense |
10/23 |
- |
3 |
17-41246547-G-A |
c.1001C>T |
p.Pro334Leu |
Missense |
10/23 |
- |
5 |
17-41246548-G-C |
c.1000C>G |
p.Pro334Ala |
Missense |
10/23 |
- |
1 |
17-41246549-GAG-G |
c.999_1000del |
p.Pro334Glnfs*11 |
Frameshift |
10/23 |
- |
1 |
17-41246549-A-T |
c.999T>A |
p.Thr333Thr |
Synonymous |
10/23 |
- |
1 |
17-41246551-T-C |
c.997A>G |
p.Thr333Ala |
Missense |
10/23 |
- |
1 |
17-41246553-CG-TA |
c.994_995delinsTA |
p.Arg332* |
Nonsense |
10/23 |
- |
1 |
17-41246553-CG-GA |
c.994_995delinsTC |
p.Arg332Ser |
Missense |
10/23 |
- |
1 |
17-41246554-G-A |
c.994C>T |
p.Arg332Trp |
Missense |
10/23 |
- |
1 |
17-41246555-C-G |
c.993G>C |
p.Arg331Ser |
Missense |
10/23 |
- |
2 |
17-41246564-A-T |
c.984T>A |
p.Cys328* |
Nonsense |
10/23 |
- |
2 |
17-41246565-ACATGT-A |
c.979_983del |
p.Thr327* |
Frameshift |
10/23 |
- |
1 |
17-41246566-CAT-C |
c.981_982del |
p.Cys328* |
Frameshift |
10/23 |
- |
24 |
17-41246566-A-G |
c.982T>C |
p.Cys328Arg |
Missense |
10/23 |
- |
1 |
17-41246567-T-C |
c.981A>G |
p.Thr327Thr |
Synonymous |
10/23 |
- |
2 |
17-41246570-T-TAT |
c.978_979insTA |
p.Thr327* |
Nonsense |
10/23 |
- |
1 |
17-41246572-C-T |
c.976G>A |
p.Glu326Lys |
Missense |
10/23 |
- |
1 |
17-41246574-TT-GC |
c.973_974delinsGC |
p.Lys325Ala |
Missense |
10/23 |
- |
1 |
17-41246578-T-A |
c.970A>T |
p.Ser324Cys |
Missense |
10/23 |
- |
1 |
17-41246578-CTT-C |
c.969_970del |
p.Ser324* |
Frameshift |
10/23 |
- |
1 |
17-41246579-T-A |
c.969A>T |
p.Gly323Gly |
Synonymous |
10/23 |
- |
1 |
17-41246582-A-G |
c.966T>C |
p.Ala322Ala |
Synonymous |
10/23 |
- |
1 |
17-41246583-AGCCC-A |
c.962_965del |
p.Trp321Leufs*19 |
Frameshift |
10/23 |
- |
1 |
17-41246586-C-T |
c.962G>A |
p.Trp321* |
Nonsense |
10/23 |
- |
12 |
17-41246586-C-CC |
c.964dup |
p.Ala322Glyfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41246586-CCA-C |
c.961_962del |
p.Trp321Glyfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41246586-CC-C |
c.964del |
p.Ala322Leufs*19 |
Frameshift |
10/23 |
- |
1 |
17-41246589-TCT-T |
c.959_960del |
p.Arg320Metfs*5 |
Frameshift |
10/23 |
- |
1 |
17-41246589-CT-GC |
c.958_959delinsGC |
p.Arg320Ala |
Missense |
10/23 |
- |
1 |
17-41246592-T-C |
c.956A>G |
p.Asn319Ser |
Missense |
10/23 |
- |
1 |
17-41246594-A-AA |
c.954dup |
p.Asn319* |
Nonsense |
10/23 |
- |
1 |
17-41246599-G-A |
c.949C>T |
p.Gln317* |
Nonsense |
10/23 |
- |
1 |
17-41246602-T-C |
c.946A>G |
p.Ser316Gly |
Missense |
10/23 |
- |
2 |
17-41246608-C-T |
c.940G>A |
p.Ala314Thr |
Missense |
10/23 |
- |
1 |
17-41246610-AA-GC |
c.937_938delinsGC |
p.Leu313Ala |
Missense |
10/23 |
- |
1 |
17-41246617-G-A |
c.931C>T |
p.Pro311Ser |
Missense |
10/23 |
- |
1 |
17-41246617-G-GG |
c.932dup |
p.Gly312Trpfs*8 |
Frameshift |
10/23 |
- |
1 |
17-41246619-CT-C |
c.929del |
p.Gln310Argfs*4 |
Frameshift |
10/23 |
- |
3 |
17-41246620-G-A |
c.928C>T |
p.Gln310* |
Nonsense |
10/23 |
- |
4 |
17-41246622-T-G |
c.926A>C |
p.Lys309Thr |
Missense |
10/23 |
- |
2 |
17-41246623-T-C |
c.925A>G |
p.Lys309Glu |
Missense |
10/23 |
- |
1 |
17-41246623-TT-T |
c.927del |
p.Lys309Asnfs*5 |
Frameshift |
10/23 |
- |
2 |
17-41246624-TGC-T |
c.923_924del |
p.Ser308Lysfs*11 |
Frameshift |
10/23 |
- |
1 |
17-41246624-GCT-TGA |
c.922_924delinsTCA |
p.Ser308Ser |
Nonsense |
10/23 |
- |
1 |
17-41246624-GCT-GAG |
c.922_923delinsCT |
p.Ser308Leu |
Missense |
10/23 |
- |
1 |
17-41246625-C-T |
c.923G>A |
p.Ser308Asn |
Missense |
10/23 |
- |
2 |
17-41246625-GCT-G |
c.922_923del |
p.Ser308Glnfs*11 |
Frameshift |
10/23 |
- |
2 |
17-41246625-C-G |
c.923G>C |
p.Ser308Thr |
Missense |
10/23 |
- |
2 |
17-41246625-CT-GC |
c.922_923delinsGC |
p.Ser308Ala |
Missense |
10/23 |
- |
3 |
17-41246625-GC-G |
c.923del |
p.Ser308Thrfs*6 |
Frameshift |
10/23 |
- |
1 |
17-41246626-T-A |
c.922A>T |
p.Ser308Cys |
Missense |
10/23 |
- |
1 |
17-41246628-T-TATT |
c.921_922insTAA |
p.Lys307_Ser308ins* |
InFrameInsertion |
10/23 |
- |
1 |
17-41246629-T-C |
c.919A>G |
p.Lys307Glu |
Missense |
10/23 |
- |
2 |
17-41246633-A-T |
c.915T>A |
p.Cys305* |
Nonsense |
10/23 |
- |
1 |
17-41246643-GC-TG |
c.904_905delinsCA |
p.Ala302His |
Missense |
10/23 |
- |
1 |
17-41246645-CC-C |
c.904del |
p.Ala302Leufs*12 |
Frameshift |
10/23 |
- |
1 |
17-41246648-T-G |
c.900A>C |
p.Glu300Asp |
Missense |
10/23 |
- |
1 |
17-41246648-T-A |
c.900A>T |
p.Glu300Asp |
Missense |
10/23 |
- |
1 |
17-41246650-C-T |
c.898G>A |
p.Glu300Lys |
Missense |
10/23 |
- |
1 |
17-41246653-ACA-A |
c.895_896del |
p.Val299Argfs*4 |
Frameshift |
10/23 |
- |
2 |
17-41246653-C-G |
c.895G>C |
p.Val299Leu |
Missense |
10/23 |
- |
1 |
17-41246653-C-A |
c.895G>T |
p.Val299Leu |
Missense |
10/23 |
- |
1 |
17-41246654-CA-C |
c.894del |
p.Asn298Lysfs*2 |
Frameshift |
10/23 |
- |
1 |
17-41246657-C-T |
c.891G>A |
p.Met297Ile |
Missense |
10/23 |
- |
3 |
17-41246659-T-G |
c.889A>C |
p.Met297Leu |
Missense |
10/23 |
- |
1 |
17-41246668-T-G |
c.880A>C |
p.Lys294Gln |
Missense |
10/23 |
- |
1 |
17-41246672-TGAGT-T |
c.876_879del |
p.Thr293Lysfs*4 |
Frameshift |
10/23 |
- |
1 |
17-41246677-A-G |
c.871T>C |
p.Leu291Leu |
Synonymous |
10/23 |
- |
1 |
17-41246679-A-C |
c.869T>G |
p.Leu290* |
Nonsense |
10/23 |
- |
1 |
17-41246682-ACT-A |
c.865_866del |
p.Ser289Phefs*5 |
Frameshift |
10/23 |
- |
1 |
17-41246683-T-G |
c.865A>C |
p.Ser289Arg |
Missense |
10/23 |
- |
1 |
17-41246686-T-A |
c.862A>T |
p.Ser288Cys |
Missense |
10/23 |
- |
18 |
17-41246696-C-G |
c.852G>C |
p.Gln284His |
Missense |
10/23 |
- |
1 |
17-41246696-C-A |
c.852G>T |
p.Gln284His |
Missense |
10/23 |
- |
1 |
17-41246697-T-C |
c.851A>G |
p.Gln284Arg |
Missense |
10/23 |
- |
1 |
17-41246698-G-A |
c.850C>T |
p.Gln284* |
Nonsense |
10/23 |
- |
5 |
17-41246700-A-T |
c.848T>A |
p.Leu283* |
Nonsense |
10/23 |
- |
2 |
17-41246702-TG-AT |
c.845_846delinsAT |
p.Ser282Tyr |
Missense |
10/23 |
- |
1 |
17-41246702-ATGAG-A |
c.843_846del |
p.Ser282Tyrfs*15 |
Frameshift |
10/23 |
- |
13 |
17-41246703-G-T |
c.845C>A |
p.Ser282* |
Nonsense |
10/23 |
- |
1 |
17-41246706-CT-CTCT |
c.841_842dup |
p.Ser281Argfs*18 |
Frameshift |
10/23 |
- |
1 |
17-41246709-G-C |
c.839C>G |
p.Ala280Gly |
Missense |
10/23 |
- |
4 |
17-41246711-A-C |
c.837T>G |
p.His279Gln |
Missense |
10/23 |
- |
1 |
17-41246711-A-T |
c.837T>A |
p.His279Gln |
Missense |
10/23 |
- |
1 |
17-41246713-TG-T |
c.835del |
p.His279Metfs*19 |
Frameshift |
10/23 |
- |
1 |
17-41246714-A-AT |
c.833_834insA |
p.His279Serfs*8 |
Frameshift |
10/23 |
- |
1 |
17-41246717-A-T |
c.831T>A |
p.Asn277Lys |
Missense |
10/23 |
- |
1 |
17-41246720-T-C |
c.828A>G |
p.Thr276Thr |
Synonymous |
10/23 |
- |
1 |
17-41246723-G-A |
c.825C>T |
p.Gly275Gly |
Synonymous |
10/23 |
- |
1 |
17-41246724-C-T |
c.824G>A |
p.Gly275Asp |
Missense |
10/23 |
- |
2 |
17-41246725-C-T |
c.823G>A |
p.Gly275Ser |
Missense |
10/23 |
- |
2 |
17-41246725-C-G |
c.823G>C |
p.Gly275Arg |
Missense |
10/23 |
- |
1 |
17-41246726-A-T |
c.822T>A |
p.Cys274* |
Nonsense |
10/23 |
- |
1 |
17-41246727-CA-GC |
c.820_821delinsGC |
p.Cys274Ala |
Missense |
10/23 |
- |
1 |
17-41246731-GCTCCACATG-GCTCCACATGGCTCCACATG |
c.815_824dup |
p.Thr276Alafs*14 |
Frameshift |
10/23 |
- |
2 |
17-41246731-GGCTCCACATG-G |
c.815_824del |
p.Glu272Alafs*23 |
Frameshift |
10/23 |
- |
1 |
17-41246736-AC-AG |
c.811delinsC |
p.Val271Leu |
Missense |
10/23 |
- |
1 |
17-41246737-C-T |
c.811G>A |
p.Val271Met |
Missense |
10/23 |
- |
4 |
17-41246739-TG-GC |
c.808_809delinsGC |
p.His270Ala |
Missense |
10/23 |
- |
1 |
17-41246744-G-C |
c.804C>G |
p.Asn268Lys |
Missense |
10/23 |
- |
1 |
17-41246748-GA-AA |
c.800delinsT |
p.Ser267Leu |
Missense |
10/23 |
- |
1 |
17-41246749-A-C |
c.799T>G |
p.Ser267Ala |
Missense |
10/23 |
- |
4 |
17-41246750-AAA-A |
c.798_799del |
p.Ser267Lysfs*19 |
Frameshift |
10/23 |
- |
33 |
17-41246752-C-A |
c.796G>T |
p.Val266Phe |
Missense |
10/23 |
- |
1 |
17-41246753-CA-C |
c.795del |
p.Val266Phefs*32 |
Frameshift |
10/23 |
- |
1 |
17-41246753-A-G |
c.795T>C |
p.Ser265Ser |
Synonymous |
10/23 |
- |
2 |
17-41246754-AGA-A |
c.794_795del |
p.Ser265Cysfs*21 |
Frameshift |
10/23 |
- |
2 |
17-41246754-AGAAC-A |
c.791_794del |
p.Ser264Metfs*33 |
Frameshift |
10/23 |
- |
3 |
17-41246756-A-C |
c.792T>G |
p.Ser264Arg |
Missense |
10/23 |
- |
1 |
17-41246758-T-G |
c.790A>C |
p.Ser264Arg |
Missense |
10/23 |
- |
1 |
17-41246756-A-T |
c.792T>A |
p.Ser264Arg |
Missense |
10/23 |
- |
1 |
17-41246764-G-A |
c.784C>T |
p.Gln262* |
Nonsense |
10/23 |
- |
1 |
17-41246781-C-T |
c.767G>A |
p.Arg256Lys |
Missense |
10/23 |
- |
1 |
17-41246784-TC-AG |
c.763_764delinsCT |
p.Glu255Leu |
Missense |
10/23 |
- |
1 |
17-41246785-C-A |
c.763G>T |
p.Glu255* |
Nonsense |
10/23 |
- |
1 |
17-41246785-C-G |
c.763G>C |
p.Glu255Gln |
Missense |
10/23 |
- |
1 |
17-41246792-ACG-TGA |
c.754_756delinsTCA |
p.Arg252Ser |
Nonsense |
10/23 |
- |
1 |
17-41246793-C-T |
c.755G>A |
p.Arg252His |
Missense |
10/23 |
- |
1 |
17-41246794-G-A |
c.754C>T |
p.Arg252Cys |
Missense |
10/23 |
- |
1 |
17-41246794-CG-C |
c.754del |
p.Arg252Valfs*46 |
Frameshift |
10/23 |
- |
1 |
17-41246795-C-T |
c.753G>A |
p.Lys251Lys |
Synonymous |
10/23 |
- |
1 |
17-41246803-GT-G |
c.745del |
p.Thr249Leufs*49 |
Frameshift |
10/23 |
- |
1 |
17-41246803-T-A |
c.745A>T |
p.Thr249Ser |
Missense |
10/23 |
- |
1 |
17-41246803-T-C |
c.745A>G |
p.Thr249Ala |
Missense |
10/23 |
- |
2 |
17-41246812-A-C |
c.736T>G |
p.Leu246Val |
Missense |
10/23 |
- |
12 |
17-41246813-AA-A |
c.737del |
p.Leu246* |
Frameshift |
10/23 |
- |
1 |
17-41246814-T-A |
c.734A>T |
p.Asp245Val |
Missense |
10/23 |
- |
2 |
17-41246814-T-G |
c.734A>C |
p.Asp245Ala |
Missense |
10/23 |
- |
1 |
17-41246815-C-T |
c.733G>A |
p.Asp245Asn |
Missense |
10/23 |
- |
1 |
17-41246815-C-A |
c.733G>T |
p.Asp245Tyr |
Missense |
10/23 |
- |
1 |
17-41246822-TA-T |
c.726del |
p.Ser242Argfs*5 |
Frameshift |
10/23 |
- |
1 |
17-41246826-G-A |
c.722C>T |
p.Pro241Leu |
Missense |
10/23 |
- |
1 |
17-41246827-G-A |
c.721C>T |
p.Pro241Ser |
Missense |
10/23 |
- |
1 |
17-41246830-G-A |
c.718C>T |
p.Gln240* |
Nonsense |
10/23 |
- |
1 |
17-41246832-T-A |
c.716A>T |
p.His239Leu |
Missense |
10/23 |
- |
1 |
17-41246832-T-C |
c.716A>G |
p.His239Arg |
Missense |
10/23 |
- |
1 |
17-41246837-T-C |
c.711A>G |
p.Glu237Glu |
Synonymous |
10/23 |
- |
1 |
17-41246837-TTC-TAT |
c.709_710delinsAT |
p.Glu237Ile |
Missense |
10/23 |
- |
1 |
17-41246839-C-A |
c.709G>T |
p.Glu237* |
Nonsense |
10/23 |
- |
1 |
17-41246839-C-T |
c.709G>A |
p.Glu237Lys |
Missense |
10/23 |
- |
1 |
17-41246851-ACA-A |
c.697_698del |
p.Val233Asnfs*4 |
Frameshift |
10/23 |
- |
5 |
17-41246854-C-T |
c.694G>A |
p.Asp232Asn |
Missense |
10/23 |
- |
1 |
17-41246855-CG-AC |
c.692_693delinsGT |
p.Thr231Ser |
Missense |
10/23 |
- |
1 |
17-41246855-C-T |
c.693G>A |
p.Thr231Thr |
Synonymous |
10/23 |
- |
2 |
17-41246855-CGT-GAC |
c.691_693delinsGTC |
p.Thr231Val |
Missense |
10/23 |
- |
1 |
17-41246856-G-A |
c.692C>T |
p.Thr231Met |
Missense |
10/23 |
- |
1 |
17-41246856-CGTCT-C |
c.689_692del |
p.Glu230Glyfs*3 |
Frameshift |
10/23 |
- |
2 |
17-41246857-T-C |
c.691A>G |
p.Thr231Ala |
Missense |
10/23 |
- |
1 |
17-41246858-C-T |
c.690G>A |
p.Glu230Glu |
Synonymous |
10/23 |
- |
1 |
17-41246859-T-G |
c.689A>C |
p.Glu230Ala |
Missense |
10/23 |
- |
1 |
17-41246866-AA-A |
c.685del |
p.Ser229Leufs*5 |
Frameshift |
10/23 |
- |
1 |
17-41246869-C-A |
c.679G>T |
p.Glu227* |
Nonsense |
10/23 |
- |
2 |
17-41246871-C-T |
c.677G>A |
p.Cys226Tyr |
Missense |
10/23 |
- |
1 |
17-41246873-AA-A |
c.676del |
p.Cys226Valfs*8 |
Frameshift |
10/23 |
- |
9 |
17-41246879-T-C |
c.671-2A>G |
- |
IntronicSNV |
- |
9/22 |
2 |
17-41246885-T-C |
c.671-8A>G |
- |
IntronicSNV |
- |
9/22 |
1 |
17-41246888-A-AA |
c.671-11dup |
- |
IntronicInsertion |
- |
9/22 |
1 |
17-41247502-AAGTGGGAGGATAGCTTGAGCCTTGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCATCAC-A |
c.670+303_670+361del |
- |
Unclassified |
- |
9/22 |
1 |
17-41247832-T-G |
c.670+31A>C |
- |
IntronicSNV |
- |
9/22 |
1 |
17-41247847-C-T |
c.670+16G>A |
- |
IntronicSNV |
- |
9/22 |
1 |
17-41247855-G-A |
c.670+8C>T |
- |
IntronicSNV |
- |
9/22 |
2 |
17-41247861-A-T |
c.670+2T>A |
- |
IntronicSNV |
- |
9/22 |
1 |
17-41247862-C-T |
c.670+1G>A |
- |
IntronicSNV |
- |
9/22 |
1 |
17-41247862-C-A |
c.670+1G>T |
- |
IntronicSNV |
- |
9/22 |
2 |
17-41247863-C-A |
c.670G>T |
p.Ala224Ser |
Missense |
9/23 |
- |
1 |
17-41247864-C-A |
c.669G>T |
p.Lys223Asn |
Missense |
9/23 |
- |
1 |
17-41247864-C-G |
c.669G>C |
p.Lys223Asn |
Missense |
9/23 |
- |
1 |
17-41247864-CC-C |
c.670+1del |
- |
IntronicDeletion |
9/23 |
- |
1 |
17-41247864-CCTT-C |
c.667_669del |
p.Lys223del |
InFrameDeletion |
9/23 |
- |
1 |
17-41247864-CCTTTTTTGCAGAATCCAAACTGATTTCATCCCTGGTTCCTTGAGGGGTGATTTGTAACA-C |
c.611_669del |
p.Leu204Cysfs*4 |
Unclassified |
9/23 |
- |
1 |
17-41247865-T-C |
c.668A>G |
p.Lys223Arg |
Missense |
9/23 |
- |
1 |
17-41247865-CTTTTTTGCAGAATCCAAACTGATTTCATCCCTGGTTCCTTGAGGGGTGATTTGTAACAA-C |
c.610_668del |
p.Leu204Glyfs*4 |
InFrameDeletion |
9/23 |
- |
2 |
17-41247867-T-A |
c.666A>T |
p.Lys222Asn |
Missense |
9/23 |
- |
1 |
17-41247877-T-A |
c.656A>T |
p.Asp219Val |
Missense |
9/23 |
- |
1 |
17-41247882-ACT-GAG |
c.649_651delinsCTC |
p.Ser217Leu |
Missense |
9/23 |
- |
1 |
17-41247883-C-T |
c.650G>A |
p.Ser217Asn |
Missense |
9/23 |
- |
1 |
17-41247890-C-A |
c.643G>T |
p.Glu215* |
Nonsense |
9/23 |
- |
1 |
17-41247892-T-C |
c.641A>G |
p.Asp214Gly |
Missense |
9/23 |
- |
8 |
17-41247893-C-A |
c.640G>T |
p.Asp214Tyr |
Missense |
9/23 |
- |
1 |
17-41247895-CT-TA |
c.637_638delinsTA |
p.Arg213* |
Nonsense |
9/23 |
- |
1 |
17-41247902-C-T |
c.631G>A |
p.Gly211Arg |
Missense |
9/23 |
- |
1 |
17-41247905-G-A |
c.628C>T |
p.Gln210* |
Nonsense |
9/23 |
- |
1 |
17-41247907-G-A |
c.626C>T |
p.Pro209Leu |
Missense |
9/23 |
- |
1 |
17-41247909-G-A |
c.624C>T |
p.Thr208Thr |
Synonymous |
9/23 |
- |
1 |
17-41247932-C-T |
c.601G>A |
p.Asp201Asn |
Missense |
9/23 |
- |
2 |
17-41247934-C-G |
c.599G>C |
p.Gly200Ala |
Missense |
9/23 |
- |
1 |
17-41247937-CACAC-C |
c.594_597del |
p.Ser198Argfs*35 |
SpliceAcceptorDeletion |
9/23 |
8/22 |
6 |
17-41247939-A-AA |
c.594dup |
p.Val199Cysfs*17 |
SpliceAcceptorInsertion |
- |
- |
1 |
17-41247941-T-C |
c.594-2A>G |
- |
IntronicSNV |
- |
8/22 |
1 |
17-41247941-T-G |
c.594-2A>C |
- |
IntronicSNV |
- |
8/22 |
14 |
17-41247954-C-T |
c.594-15G>A |
- |
IntronicSNV |
- |
8/22 |
1 |
17-41247959-T-C |
c.594-20A>G |
- |
IntronicSNV |
- |
8/22 |
1 |
17-41249245-G-C |
c.593+16C>G |
- |
IntronicSNV |
- |
8/22 |
1 |
17-41249253-T-C |
c.593+8A>G |
- |
IntronicSNV |
- |
8/22 |
1 |
17-41249257-T-C |
c.593+4A>G |
- |
IntronicSNV |
- |
8/22 |
2 |
17-41249263-G-A |
c.591C>T |
p.Cys197Cys |
Synonymous |
8/23 |
- |
11 |
17-41249263-TGCAATAAGTTGCCTTATTAACGGTATCTTCAGAAGAATCAGATCCTAAAAAATTTCCCC-T |
c.548-15_591del |
- |
Unclassified |
8/23 |
7/22 |
1 |
17-41249263-TGCAATAAGTTGCCTTATTAACGGTATCTTCAGAAGAATCAGATCCT-T |
c.549_593+1del |
- |
Unclassified |
8/23 |
7/22 |
1 |
17-41249270-GT-TG |
c.583_584delinsCA |
p.Thr195His |
Missense |
8/23 |
- |
2 |
17-41249271-T-C |
c.583A>G |
p.Thr195Ala |
Missense |
8/23 |
- |
1 |
17-41249273-G-A |
c.581C>T |
p.Ala194Val |
Missense |
8/23 |
- |
1 |
17-41249274-C-T |
c.580G>A |
p.Ala194Thr |
Missense |
8/23 |
- |
1 |
17-41249282-A-T |
c.572T>A |
p.Val191Asp |
Missense |
8/23 |
- |
1 |
17-41249283-C-T |
c.571G>A |
p.Val191Ile |
Missense |
8/23 |
- |
9 |
17-41249285-G-A |
c.569C>T |
p.Thr190Ile |
Missense |
8/23 |
- |
1 |
17-41249297-G-T |
c.557C>A |
p.Ser186Tyr |
Missense |
8/23 |
- |
13 |
17-41249298-A-C |
c.556T>G |
p.Ser186Ala |
Missense |
8/23 |
- |
1 |
17-41249300-AT-A |
c.554del |
p.Asp185Valfs*49 |
Frameshift |
8/23 |
- |
1 |
17-41249303-G-A |
c.551C>T |
p.Ser184Phe |
Missense |
8/23 |
- |
1 |
17-41249306-C-A |
c.548G>T |
p.Gly183Val |
Missense |
8/23 |
- |
1 |
17-41249323-C-A |
c.548-17G>T |
- |
IntronicSNV |
- |
7/22 |
1 |
17-41249370-AA-A |
c.548-58del |
- |
IntronicDeletion |
- |
7/22 |
5 |
17-41249599-C-T |
c.548-293G>A |
- |
IntronicSNV |
- |
7/22 |
1 |
17-41251413-CGAGTAGCTGGGATTACAGTTATGTGCCACCACACCTGGCTAATTTTTTATTTTTTGGTA-C |
c.547+321_547+379del |
- |
Unclassified |
- |
7/22 |
1 |
17-41251508-CGAACTCCCGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGG-C |
c.547+226_547+284del |
- |
Unclassified |
- |
7/22 |
1 |
17-41251566-GGTGTGAGCCACCATGCCTGGCCTCTTTTGCTCCCTTTTTAAAGTAAGATTCTTCAAGGT-G |
c.547+168_547+226del |
- |
Unclassified |
- |
7/22 |
1 |
17-41251646-T-A |
c.547+146A>T |
- |
IntronicSNV |
- |
7/22 |
2 |
17-41251779-CC-C |
c.547+14del |
- |
IntronicDeletion |
- |
7/22 |
3 |
17-41251790-A-T |
c.547+2T>A |
- |
IntronicSNV |
- |
7/22 |
6 |
17-41251791-C-A |
c.547+1G>T |
- |
IntronicSNV |
- |
7/22 |
3 |
17-41251792-C-CTGCA |
c.546_547insTGCA |
p.Gly183Cysfs*4 |
SpliceDonorInsertion |
7/23 |
- |
1 |
17-41251798-C-T |
c.541G>A |
p.Glu181Lys |
Missense |
7/23 |
- |
1 |
17-41251798-C-A |
c.541G>T |
p.Glu181* |
Nonsense |
7/23 |
- |
1 |
17-41251803-T-C |
c.536A>G |
p.Tyr179Cys |
Missense |
7/23 |
- |
25 |
17-41251806-A-G |
c.533T>C |
p.Val178Ala |
Missense |
7/23 |
- |
1 |
17-41251808-AGA-GAG |
c.529_531delinsCTC |
p.Ser177Leu |
Missense |
7/23 |
- |
1 |
17-41251810-A-T |
c.529T>A |
p.Ser177Thr |
Missense |
7/23 |
- |
1 |
17-41251812-CG-C |
c.527del |
p.Thr176Serfs*58 |
Frameshift |
7/23 |
- |
1 |
17-41251814-C-T |
c.525G>A |
p.Lys175Lys |
Synonymous |
7/23 |
- |
1 |
17-41251817-T-C |
c.522A>G |
p.Gln174Gln |
Synonymous |
7/23 |
- |
1 |
17-41251820-GA-G |
c.519del |
p.Gln174Lysfs*60 |
Frameshift |
7/23 |
- |
1 |
17-41251825-TG-T |
c.514del |
p.Gln172Asnfs*62 |
Frameshift |
7/23 |
- |
3 |
17-41251825-G-A |
c.514C>T |
p.Gln172* |
Nonsense |
7/23 |
- |
4 |
17-41251828-T-C |
c.511A>G |
p.Ile171Val |
Missense |
7/23 |
- |
3 |
17-41251830-CC-C |
c.510del |
p.Ile171Tyrfs*63 |
Frameshift |
7/23 |
- |
1 |
17-41251830-C-T |
c.509G>A |
p.Arg170Gln |
Missense |
7/23 |
- |
1 |
17-41251831-CGC-C |
c.508_509del |
p.Arg170Aspfs*11 |
Frameshift |
7/23 |
- |
1 |
17-41251835-C-A |
c.504G>T |
p.Lys168Asn |
Missense |
7/23 |
- |
1 |
17-41251837-T-A |
c.502A>T |
p.Lys168* |
Nonsense |
7/23 |
- |
1 |
17-41251837-T-C |
c.502A>G |
p.Lys168Glu |
Missense |
7/23 |
- |
1 |
17-41251843-T-C |
c.496A>G |
p.Arg166Gly |
Missense |
7/23 |
- |
1 |
17-41251849-T-C |
c.490A>G |
p.Thr164Ala |
Missense |
7/23 |
- |
1 |
17-41251850-T-A |
c.489A>T |
p.Arg163Ser |
Missense |
7/23 |
- |
1 |
17-41251850-T-G |
c.489A>C |
p.Arg163Ser |
Missense |
7/23 |
- |
1 |
17-41251851-C-G |
c.488G>C |
p.Arg163Thr |
Missense |
7/23 |
- |
2 |
17-41251854-A-G |
c.485T>C |
p.Val162Ala |
Missense |
7/23 |
- |
1 |
17-41251855-ACA-A |
c.485_486del |
p.Val162Glufs*19 |
Frameshift |
7/23 |
- |
2 |
17-41251865-G-A |
c.474C>T |
p.Asn158Asn |
Synonymous |
7/23 |
- |
1 |
17-41251868-AG-AA |
c.470delinsT |
p.Ser157Phe |
Nonsense |
7/23 |
- |
1 |
17-41251872-GAG-G |
c.470_471del |
p.Ser157* |
Frameshift |
7/23 |
- |
14 |
17-41251872-A-C |
c.467T>G |
p.Leu156Arg |
Missense |
7/23 |
- |
1 |
17-41251873-G-T |
c.466C>A |
p.Leu156Ile |
Missense |
7/23 |
- |
1 |
17-41251875-TT-T |
c.465del |
p.Gln155Hisfs*8 |
Frameshift |
7/23 |
- |
1 |
17-41251876-G-C |
c.463C>G |
p.Gln155Glu |
Missense |
7/23 |
- |
3 |
17-41251880-A-T |
c.459T>A |
p.Ser153Arg |
Missense |
7/23 |
- |
1 |
17-41251882-T-G |
c.457A>C |
p.Ser153Arg |
Missense |
7/23 |
- |
1 |
17-41251880-A-C |
c.459T>G |
p.Ser153Arg |
Missense |
7/23 |
- |
1 |
17-41251881-ACT-A |
c.457_458del |
p.Ser153Cysfs*5 |
Frameshift |
7/23 |
- |
2 |
17-41251881-C-T |
c.458G>A |
p.Ser153Asn |
Missense |
7/23 |
- |
1 |
17-41251882-T-C |
c.457A>G |
p.Ser153Gly |
Missense |
7/23 |
- |
1 |
17-41251882-CTG-C |
c.456_457del |
p.Ser153Cysfs*5 |
Frameshift |
7/23 |
- |
2 |
17-41251885-G-A |
c.454C>T |
p.Leu152Phe |
Missense |
7/23 |
- |
1 |
17-41251890-GG-G |
c.450del |
p.Ser151Valfs*12 |
Frameshift |
7/23 |
- |
1 |
17-41251893-T-TT |
c.448dup |
p.Thr150Asnfs*9 |
Frameshift |
7/23 |
- |
1 |
17-41251893-T-G |
c.446A>C |
p.Glu149Ala |
Missense |
7/23 |
- |
2 |
17-41251894-C-A |
c.445G>T |
p.Glu149* |
Nonsense |
7/23 |
- |
1 |
17-41251897-TGCT-T |
c.442_444del |
p.Gln148del |
SpliceAcceptorDeletion |
7/23 |
6/22 |
2 |
17-41251897-G-C |
c.442C>G |
p.Gln148Glu |
Missense |
7/23 |
- |
1 |
17-41251899-T-C |
c.442-2A>G |
- |
IntronicSNV |
- |
6/22 |
1 |
17-41251900-A-G |
c.442-3T>C |
- |
IntronicSNV |
- |
6/22 |
1 |
17-41251900-A-C |
c.442-3T>G |
- |
IntronicSNV |
- |
6/22 |
1 |
17-41251900-A-T |
c.442-3T>A |
- |
IntronicSNV |
- |
6/22 |
1 |
17-41251914-AA-A |
c.442-15del |
- |
IntronicDeletion |
- |
6/22 |
1 |
17-41251915-G-A |
c.442-18C>T |
- |
IntronicSNV |
- |
6/22 |
1 |
17-41251931-G-A |
c.442-34C>T |
- |
IntronicSNV |
- |
6/22 |
21 |
17-41251931-G-C |
c.442-34C>G |
- |
IntronicSNV |
- |
6/22 |
12 |
17-41251931-G-T |
c.442-34C>A |
- |
IntronicSNV |
- |
6/22 |
12 |
17-41253491-GC-G |
c.442-1594del |
- |
IntronicDeletion |
- |
6/22 |
1 |
17-41254546-TGTATTTTTAGTAGAGACCGGGTTTCACCATGTTGGCCAGGGTGGTCTCAATCTCCTGAC-T |
c.441+1535_441+1593del |
- |
Unclassified |
- |
6/22 |
1 |
17-41256087-AG-A |
c.441+52del |
- |
IntronicDeletion |
- |
6/22 |
1 |
17-41256088-A-G |
c.441+51T>C |
- |
IntronicSNV |
- |
6/22 |
1 |
17-41256097-AA-A |
c.441+51del |
- |
IntronicDeletion |
- |
6/22 |
1 |
17-41256103-AG-A |
c.441+36del |
- |
IntronicDeletion |
- |
6/22 |
1 |
17-41256121-AGAA-A |
c.441+36_441+38del |
- |
IntronicDeletion |
- |
6/22 |
1 |
17-41256122-A-G |
c.441+17T>C |
- |
IntronicSNV |
- |
6/22 |
1 |
17-41256134-T-C |
c.441+5A>G |
- |
IntronicSNV |
- |
6/22 |
3 |
17-41256137-A-C |
c.441+2T>G |
- |
IntronicSNV |
- |
6/22 |
1 |
17-41256137-A-T |
c.441+2T>A |
- |
IntronicSNV |
- |
6/22 |
2 |
17-41256138-C-T |
c.441+1G>A |
- |
IntronicSNV |
- |
6/22 |
3 |
17-41256139-C-G |
c.441G>C |
p.Leu147Phe |
Missense |
6/23 |
- |
2 |
17-41256141-AA-A |
c.440del |
p.Leu147Cysfs*16 |
Frameshift |
6/23 |
- |
1 |
17-41256147-G-A |
c.433C>T |
p.Pro145Ser |
Missense |
6/23 |
- |
1 |
17-41256151-T-G |
c.429A>C |
p.Glu143Asp |
Missense |
6/23 |
- |
1 |
17-41256152-T-G |
c.428A>C |
p.Glu143Ala |
Missense |
6/23 |
- |
1 |
17-41256152-T-C |
c.428A>G |
p.Glu143Gly |
Missense |
6/23 |
- |
1 |
17-41256152-TT-T |
c.431del |
p.Asn144Ilefs*19 |
Frameshift |
6/23 |
- |
1 |
17-41256153-C-T |
c.427G>A |
p.Glu143Lys |
Missense |
6/23 |
- |
7 |
17-41256153-C-A |
c.427G>T |
p.Glu143* |
Nonsense |
6/23 |
- |
18 |
17-41256155-G-T |
c.425C>A |
p.Pro142His |
Missense |
6/23 |
- |
8 |
17-41256156-G-C |
c.424C>G |
p.Pro142Ala |
Missense |
6/23 |
- |
2 |
17-41256159-C-A |
c.421G>T |
p.Glu141* |
Nonsense |
6/23 |
- |
1 |
17-41256165-G-A |
c.415C>T |
p.Gln139* |
Nonsense |
6/23 |
- |
2 |
17-41256165-G-T |
c.415C>A |
p.Gln139Lys |
Missense |
6/23 |
- |
1 |
17-41256168-G-T |
c.412C>A |
p.Leu138Ile |
Missense |
6/23 |
- |
1 |
17-41256172-TCT-GAC |
c.406_408delinsGTC |
p.Arg136Val |
Missense |
6/23 |
- |
1 |
17-41256173-TCTTT-T |
c.405_408del |
p.Lys135Asnfs*27 |
Frameshift |
6/23 |
- |
1 |
17-41256177-TT-T |
c.406del |
p.Arg136Aspfs*27 |
Frameshift |
6/23 |
- |
3 |
17-41256177-T-TT |
c.406dup |
p.Arg136Lysfs*6 |
Frameshift |
6/23 |
- |
1 |
17-41256180-C-T |
c.400G>A |
p.Ala134Thr |
Missense |
6/23 |
- |
1 |
17-41256182-C-T |
c.398G>A |
p.Arg133His |
Missense |
6/23 |
- |
3 |
17-41256183-G-A |
c.397C>T |
p.Arg133Cys |
Missense |
6/23 |
- |
1 |
17-41256184-G-T |
c.396C>A |
p.Asn132Lys |
Missense |
6/23 |
- |
6 |
17-41256185-T-G |
c.395A>C |
p.Asn132Thr |
Missense |
6/23 |
- |
1 |
17-41256190-G-C |
c.390C>G |
p.Tyr130* |
Nonsense |
6/23 |
- |
8 |
17-41256190-G-T |
c.390C>A |
p.Tyr130* |
Nonsense |
6/23 |
- |
20 |
17-41256193-GC-AG |
c.386_387delinsCT |
p.Gly129Ala |
Missense |
6/23 |
- |
1 |
17-41256196-CC-C |
c.386del |
p.Gly129Alafs*34 |
Frameshift |
6/23 |
- |
2 |
17-41256196-C-T |
c.384G>A |
p.Met128Ile |
Missense |
6/23 |
- |
1 |
17-41256197-A-C |
c.383T>G |
p.Met128Arg |
Missense |
6/23 |
- |
1 |
17-41256200-C-A |
c.380G>T |
p.Ser127Ile |
Missense |
6/23 |
- |
1 |
17-41256200-C-T |
c.380G>A |
p.Ser127Asn |
Missense |
6/23 |
- |
1 |
17-41256201-T-A |
c.379A>T |
p.Ser127Cys |
Missense |
6/23 |
- |
1 |
17-41256204-G-A |
c.376C>T |
p.Gln126* |
Nonsense |
6/23 |
- |
3 |
17-41256204-TGGATGATAGAAACTTCATCTTTTAGATGTTCAGGAGAGTT-T |
c.339_378del |
p.Asn113Lysfs*37 |
Frameshift |
6/23 |
- |
1 |
17-41256206-A-AA |
c.374dup |
p.Gln126Profs*16 |
Frameshift |
6/23 |
- |
1 |
17-41256208-G-A |
c.372C>T |
p.Ile124Ile |
Synonymous |
6/23 |
- |
1 |
17-41256208-G-T |
c.372C>A |
p.Ile124Ile |
Synonymous |
6/23 |
- |
1 |
17-41256210-T-C |
c.370A>G |
p.Ile124Val |
Missense |
6/23 |
- |
4 |
17-41256215-A-T |
c.365T>A |
p.Val122Asp |
Missense |
6/23 |
- |
1 |
17-41256215-A-G |
c.365T>C |
p.Val122Ala |
Missense |
6/23 |
- |
1 |
17-41256218-T-C |
c.362A>G |
p.Glu121Gly |
Missense |
6/23 |
- |
1 |
17-41256222-C-T |
c.358G>A |
p.Asp120Asn |
Missense |
6/23 |
- |
1 |
17-41256224-TT-GC |
c.355_356delinsGC |
p.Lys119Ala |
Missense |
6/23 |
- |
1 |
17-41256224-T-C |
c.356A>G |
p.Lys119Arg |
Missense |
6/23 |
- |
4 |
17-41256233-T-G |
c.347A>C |
p.Glu116Ala |
Missense |
6/23 |
- |
1 |
17-41256234-C-T |
c.346G>A |
p.Glu116Lys |
Missense |
6/23 |
- |
1 |
17-41256237-G-A |
c.343C>T |
p.Pro115Ser |
Missense |
6/23 |
- |
1 |
17-41256237-G-C |
c.343C>G |
p.Pro115Ala |
Missense |
6/23 |
- |
1 |
17-41256237-G-T |
c.343C>A |
p.Pro115Thr |
Missense |
6/23 |
- |
1 |
17-41256239-G-C |
c.341C>G |
p.Ser114Cys |
Missense |
6/23 |
- |
1 |
17-41256240-GAG-G |
c.342_343del |
p.Pro115* |
Frameshift |
6/23 |
- |
2 |
17-41256240-A-C |
c.340T>G |
p.Ser114Ala |
Missense |
6/23 |
- |
2 |
17-41256245-T-C |
c.335A>G |
p.Asn112Ser |
Missense |
6/23 |
- |
1 |
17-41256248-TC-AG |
c.331_332delinsCT |
p.Glu111Leu |
Missense |
6/23 |
- |
1 |
17-41256248-TT-T |
c.335del |
p.Asn112Ilefs*7 |
Frameshift |
6/23 |
- |
1 |
17-41256248-T-G |
c.332A>C |
p.Glu111Ala |
Missense |
6/23 |
- |
2 |
17-41256249-C-A |
c.331G>T |
p.Glu111* |
Nonsense |
6/23 |
- |
1 |
17-41256254-T-C |
c.326A>G |
p.Lys109Arg |
Missense |
6/23 |
- |
3 |
17-41256254-TT-GC |
c.325_326delinsGC |
p.Lys109Ala |
Missense |
6/23 |
- |
1 |
17-41256256-T-TT |
c.329dup |
p.Glu111Glyfs*3 |
Frameshift |
6/23 |
- |
2 |
17-41256258-C-T |
c.322G>A |
p.Ala108Thr |
Missense |
6/23 |
- |
1 |
17-41256262-AA-A |
c.321del |
p.Phe107Leufs*12 |
Frameshift |
6/23 |
- |
1 |
17-41256266-T-C |
c.314A>G |
p.Tyr105Cys |
Missense |
6/23 |
- |
13 |
17-41256268-GC-TGCAAACCT |
c.311_312delinsAGGTTTGCA |
p.Ser104Lysfs*5 |
Frameshift |
6/23 |
- |
1 |
17-41256274-T-TT |
c.308dup |
p.Asn103Lysfs*4 |
Frameshift |
6/23 |
- |
1 |
17-41256275-GC-AG |
c.304_305delinsCT |
p.Ala102Leu |
Missense |
6/23 |
- |
1 |
17-41256277-A-C |
c.303T>G |
p.Tyr101* |
Nonsense |
6/23 |
- |
8 |
17-41256277-A-T |
c.303T>A |
p.Tyr101* |
Nonsense |
6/23 |
- |
5 |
17-41256279-C-T |
c.302-1G>A |
- |
IntronicSNV |
- |
5/22 |
2 |
17-41256279-C-G |
c.302-1G>C |
- |
IntronicSNV |
- |
5/22 |
2 |
17-41256280-CT-C |
c.302-2del |
- |
IntronicDeletion |
- |
5/22 |
1 |
17-41256280-T-G |
c.302-2A>C |
- |
IntronicSNV |
- |
5/22 |
2 |
17-41256281-G-C |
c.302-3C>G |
- |
IntronicSNV |
- |
5/22 |
2 |
17-41256281-G-A |
c.302-3C>T |
- |
IntronicSNV |
- |
5/22 |
1 |
17-41256283-A-G |
c.302-5T>C |
- |
IntronicSNV |
- |
5/22 |
1 |
17-41256293-G-C |
c.302-15C>G |
- |
IntronicSNV |
- |
5/22 |
2 |
17-41256878-C-T |
c.301+7G>A |
- |
IntronicSNV |
- |
5/22 |
3 |
17-41256884-C-T |
c.301+1G>A |
- |
IntronicSNV |
- |
5/22 |
1 |
17-41256893-C-A |
c.293G>T |
p.Gly98Val |
Missense |
5/23 |
- |
1 |
17-41256896-G-C |
c.290C>G |
p.Thr97Arg |
Missense |
5/23 |
- |
1 |
17-41256897-T-C |
c.289A>G |
p.Thr97Ala |
Missense |
5/23 |
- |
2 |
17-41256899-T-G |
c.287A>C |
p.Asp96Ala |
Missense |
5/23 |
- |
1 |
17-41256900-C-T |
c.286G>A |
p.Asp96Asn |
Missense |
5/23 |
- |
3 |
17-41256901-CAAGC-C |
c.283_286del |
p.Leu95Thrfs*23 |
Frameshift |
5/23 |
- |
1 |
17-41256904-C-A |
c.282G>T |
p.Gln94His |
Missense |
5/23 |
- |
1 |
17-41256906-G-A |
c.280C>T |
p.Gln94* |
Nonsense |
5/23 |
- |
3 |
17-41256911-G-C |
c.275C>G |
p.Ala92Gly |
Missense |
5/23 |
- |
1 |
17-41256912-C-T |
c.274G>A |
p.Ala92Thr |
Missense |
5/23 |
- |
1 |
17-41256912-C-A |
c.274G>T |
p.Ala92Ser |
Missense |
5/23 |
- |
1 |
17-41256914-CA-AC |
c.271_272delinsGT |
p.Cys91Val |
Missense |
5/23 |
- |
1 |
17-41256914-CA-GC |
c.271_272delinsGC |
p.Cys91Ala |
Missense |
5/23 |
- |
1 |
17-41256914-ACA-A |
c.273_274del |
p.Ala92Phefs*4 |
Frameshift |
5/23 |
- |
1 |
17-41256914-C-G |
c.272G>C |
p.Cys91Ser |
Missense |
5/23 |
- |
1 |
17-41256915-A-T |
c.271T>A |
p.Cys91Ser |
Missense |
5/23 |
- |
1 |
17-41256916-A-C |
c.270T>G |
p.Ile90Met |
Missense |
5/23 |
- |
1 |
17-41256917-A-C |
c.269T>G |
p.Ile90Ser |
Missense |
5/23 |
- |
1 |
17-41256917-A-G |
c.269T>C |
p.Ile90Thr |
Missense |
5/23 |
- |
2 |
17-41256918-T-C |
c.268A>G |
p.Ile90Val |
Missense |
5/23 |
- |
1 |
17-41256932-T-C |
c.254A>G |
p.Glu85Gly |
Missense |
5/23 |
- |
2 |
17-41256933-C-A |
c.253G>T |
p.Glu85* |
Nonsense |
5/23 |
- |
2 |
17-41256933-C-T |
c.253G>A |
p.Glu85Lys |
Missense |
5/23 |
- |
1 |
17-41256934-T-C |
c.252A>G |
p.Glu84Glu |
Synonymous |
5/23 |
- |
1 |
17-41256936-C-A |
c.250G>T |
p.Glu84* |
Nonsense |
5/23 |
- |
2 |
17-41256938-A-C |
c.248T>G |
p.Val83Gly |
Missense |
5/23 |
- |
1 |
17-41256941-A-AT |
c.244_245insA |
p.Leu82Hisfs*3 |
Frameshift |
5/23 |
- |
1 |
17-41256941-AA-A |
c.246del |
p.Val83Leufs*5 |
Frameshift |
5/23 |
- |
3 |
17-41256945-G-A |
c.241C>T |
p.Gln81* |
Nonsense |
5/23 |
- |
3 |
17-41256945-G-C |
c.241C>G |
p.Gln81Glu |
Missense |
5/23 |
- |
1 |
17-41256949-TAAA-T |
c.235_237del |
p.Phe79del |
InFrameDeletion |
5/23 |
- |
1 |
17-41256950-AAATCTCGTA-A |
c.230_238del |
p.Thr77_Phe79del |
InFrameDeletion |
5/23 |
- |
1 |
17-41256955-C-A |
c.231G>T |
p.Thr77Thr |
Synonymous |
5/23 |
- |
2 |
17-41256956-G-A |
c.230C>T |
p.Thr77Met |
Missense |
5/23 |
- |
3 |
17-41256956-G-C |
c.230C>G |
p.Thr77Arg |
Missense |
5/23 |
- |
1 |
17-41256958-A-G |
c.228T>C |
p.Ser76Ser |
Synonymous |
5/23 |
- |
1 |
17-41256959-CT-GA |
c.226_227delinsTC |
p.Ser76Ser |
Missense |
5/23 |
- |
1 |
17-41256962-TTCTT-T |
c.224_227del |
p.Glu75Valfs*12 |
Frameshift |
5/23 |
- |
1 |
17-41256963-C-A |
c.223G>T |
p.Glu75* |
Nonsense |
5/23 |
- |
1 |
17-41256966-G-A |
c.220C>T |
p.Gln74* |
Nonsense |
5/23 |
- |
4 |
17-41256971-C-G |
c.215G>C |
p.Ser72Thr |
Missense |
5/23 |
- |
1 |
17-41256974-C-T |
c.213-1G>A |
- |
IntronicSNV |
- |
4/22 |
2 |
17-41256981-T-G |
c.213-8A>C |
- |
IntronicSNV |
- |
4/22 |
1 |
17-41256984-A-C |
c.213-11T>G |
- |
IntronicSNV |
- |
4/22 |
13 |
17-41256985-T-C |
c.213-12A>G |
- |
IntronicSNV |
- |
4/22 |
7 |
17-41256987-G-C |
c.213-14C>G |
- |
IntronicSNV |
- |
4/22 |
1 |
17-41257134-T-C |
c.213-161A>G |
- |
IntronicSNV |
- |
4/22 |
5 |
17-41258220-C-T |
c.212+253G>A |
- |
IntronicSNV |
- |
4/22 |
1 |
17-41258346-TGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGT-T |
c.212+70_212+128del |
- |
Unclassified |
- |
4/22 |
1 |
17-41258450-A-T |
c.212+23T>A |
- |
IntronicSNV |
- |
4/22 |
3 |
17-41258470-T-C |
c.212+3A>G |
- |
IntronicSNV |
- |
4/22 |
14 |
17-41258470-T-A |
c.212+3A>T |
- |
IntronicSNV |
- |
4/22 |
1 |
17-41258471-A-G |
c.212+2T>C |
- |
IntronicSNV |
- |
4/22 |
1 |
17-41258472-C-T |
c.212+1G>A |
- |
IntronicSNV |
- |
4/22 |
10 |
17-41258472-C-A |
c.212+1G>T |
- |
IntronicSNV |
- |
4/22 |
8 |
17-41258472-C-G |
c.212+1G>C |
- |
IntronicSNV |
- |
4/22 |
1 |
17-41258473-C-A |
c.212G>T |
p.Arg71Met |
Missense |
4/23 |
- |
1 |
17-41258473-C-T |
c.212G>A |
p.Arg71Lys |
Missense |
4/23 |
- |
7 |
17-41258473-CCTTTTGGTTATATCATTCTTAC-C |
c.194_212+3del |
- |
SpliceDonorDeletion |
4/23 |
- |
2 |
17-41258473-CT-GC |
c.211_212delinsGC |
p.Arg71Ala |
Missense |
4/23 |
- |
1 |
17-41258474-T-C |
c.211A>G |
p.Arg71Gly |
Missense |
4/23 |
- |
50 |
17-41258475-TTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAA-T |
c.152_210del |
p.Leu51Glnfs*10 |
Unclassified |
4/23 |
- |
2 |
17-41258476-TT-GC |
c.208_209delinsGC |
p.Lys70Ala |
Missense |
4/23 |
- |
1 |
17-41258477-T-TT |
c.211dup |
p.Arg71Lysfs*10 |
Frameshift |
4/23 |
- |
6 |
17-41258477-TT-T |
c.211del |
p.Arg71Glyfs*17 |
Frameshift |
4/23 |
- |
1 |
17-41258478-GG-CA |
c.206_207delinsTG |
p.Thr69Met |
Missense |
4/23 |
- |
1 |
17-41258480-T-C |
c.205A>G |
p.Thr69Ala |
Missense |
4/23 |
- |
1 |
17-41258482-A-C |
c.203T>G |
p.Ile68Arg |
Missense |
4/23 |
- |
2 |
17-41258482-AT-GA |
c.202_203delinsTC |
p.Ile68Ser |
Missense |
4/23 |
- |
1 |
17-41258482-A-T |
c.203T>A |
p.Ile68Lys |
Missense |
4/23 |
- |
1 |
17-41258483-T-C |
c.202A>G |
p.Ile68Val |
Missense |
4/23 |
- |
1 |
17-41258484-A-T |
c.201T>A |
p.Asp67Glu |
Missense |
4/23 |
- |
3 |
17-41258484-ATC-AAG |
c.199_200delinsCT |
p.Asp67Leu |
Missense |
4/23 |
- |
1 |
17-41258484-A-C |
c.201T>G |
p.Asp67Glu |
Missense |
4/23 |
- |
3 |
17-41258486-C-A |
c.199G>T |
p.Asp67Tyr |
Missense |
4/23 |
- |
16 |
17-41258489-T-A |
c.196A>T |
p.Asn66Tyr |
Missense |
4/23 |
- |
1 |
17-41258491-T-C |
c.194A>G |
p.Lys65Arg |
Missense |
4/23 |
- |
2 |
17-41258491-TT-GC |
c.193_194delinsGC |
p.Lys65Ala |
Missense |
4/23 |
- |
1 |
17-41258493-A-C |
c.192T>G |
p.Cys64Trp |
Missense |
4/23 |
- |
1 |
17-41258493-A-T |
c.192T>A |
p.Cys64* |
Nonsense |
4/23 |
- |
3 |
17-41258494-CA-GC |
c.190_191delinsGC |
p.Cys64Ala |
Missense |
4/23 |
- |
2 |
17-41258494-C-T |
c.191G>A |
p.Cys64Tyr |
Missense |
4/23 |
- |
18 |
17-41258495-A-G |
c.190T>C |
p.Cys64Arg |
Missense |
4/23 |
- |
18 |
17-41258495-A-C |
c.190T>G |
p.Cys64Gly |
Missense |
4/23 |
- |
34 |
17-41258496-T-A |
c.189A>T |
p.Leu63Phe |
Missense |
4/23 |
- |
1 |
17-41258496-T-G |
c.189A>C |
p.Leu63Phe |
Missense |
4/23 |
- |
1 |
17-41258496-T-TT |
c.189dup |
p.Cys64Metfs*2 |
Frameshift |
4/23 |
- |
1 |
17-41258497-A-T |
c.188T>A |
p.Leu63* |
Nonsense |
4/23 |
- |
26 |
17-41258497-A-AT |
c.187_188insA |
p.Leu63Tyrfs*3 |
Frameshift |
4/23 |
- |
1 |
17-41258497-AA-GC |
c.187_188delinsGC |
p.Leu63Ala |
Missense |
4/23 |
- |
1 |
17-41258500-GG-TT |
c.184_185delinsAA |
p.Pro62Asn |
Missense |
4/23 |
- |
1 |
17-41258503-C-T |
c.182G>A |
p.Cys61Tyr |
Missense |
4/23 |
- |
5 |
17-41258504-A-T |
c.181T>A |
p.Cys61Ser |
Missense |
4/23 |
- |
5 |
17-41258504-A-G |
c.181T>C |
p.Cys61Arg |
Missense |
4/23 |
- |
3 |
17-41258504-A-C |
c.181T>G |
p.Cys61Gly |
Missense |
4/23 |
- |
280 |
17-41258503-C-G |
c.182G>C |
p.Cys61Ser |
Missense |
4/23 |
- |
2 |
17-41258507-G-A |
c.178C>T |
p.Gln60* |
Nonsense |
4/23 |
- |
3 |
17-41258508-GTG-G |
c.178_179del |
p.Gln60Valfs*5 |
Frameshift |
4/23 |
- |
1 |
17-41258509-G-C |
c.176C>G |
p.Ser59* |
Nonsense |
4/23 |
- |
1 |
17-41258509-G-T |
c.176C>A |
p.Ser59* |
Nonsense |
4/23 |
- |
1 |
17-41258512-GG-AA |
c.172_173delinsTT |
p.Pro58Phe |
Missense |
4/23 |
- |
1 |
17-41258512-GG-TG |
c.173delinsA |
p.Pro58His |
Missense |
4/23 |
- |
1 |
17-41258513-G-C |
c.172C>G |
p.Pro58Ala |
Missense |
4/23 |
- |
2 |
17-41258515-C-G |
c.170G>C |
p.Gly57Ala |
Missense |
4/23 |
- |
1 |
17-41258516-C-G |
c.169G>C |
p.Gly57Arg |
Missense |
4/23 |
- |
1 |
17-41258516-C-A |
c.169G>T |
p.Gly57Trp |
Missense |
4/23 |
- |
1 |
17-41258516-C-T |
c.169G>A |
p.Gly57Arg |
Missense |
4/23 |
- |
1 |
17-41258517-T-A |
c.168A>T |
p.Lys56Asn |
Missense |
4/23 |
- |
2 |
17-41258517-T-G |
c.168A>C |
p.Lys56Asn |
Missense |
4/23 |
- |
2 |
17-41258521-TT-GC |
c.163_164delinsGC |
p.Lys55Ala |
Missense |
4/23 |
- |
2 |
17-41258528-T-TT |
c.158dup |
p.Asn53Lysfs*13 |
Frameshift |
4/23 |
- |
1 |
17-41258531-G-A |
c.154C>T |
p.Leu52Phe |
Missense |
4/23 |
- |
18 |
17-41258532-AAG-TGG |
c.152_153delinsCA |
p.Leu51Pro |
Missense |
4/23 |
- |
1 |
17-41258533-AG-GC |
c.151_152delinsGC |
p.Leu51Ala |
Missense |
4/23 |
- |
2 |
17-41258536-TT-GC |
c.148_149delinsGC |
p.Lys50Ala |
Missense |
4/23 |
- |
1 |
17-41258536-T-C |
c.149A>G |
p.Lys50Arg |
Missense |
4/23 |
- |
1 |
17-41258537-T-G |
c.148A>C |
p.Lys50Gln |
Missense |
4/23 |
- |
1 |
17-41258539-A-C |
c.146T>G |
p.Leu49Arg |
Missense |
4/23 |
- |
1 |
17-41258541-C-T |
c.144G>A |
p.Met48Ile |
Missense |
4/23 |
- |
1 |
17-41258541-GC-G |
c.144del |
p.Met48Ilefs*2 |
Frameshift |
4/23 |
- |
1 |
17-41258542-A-T |
c.143T>A |
p.Met48Lys |
Missense |
4/23 |
- |
2 |
17-41258542-A-C |
c.143T>G |
p.Met48Arg |
Missense |
4/23 |
- |
1 |
17-41258544-G-C |
c.141C>G |
p.Cys47Trp |
Missense |
4/23 |
- |
1 |
17-41258545-C-T |
c.140G>A |
p.Cys47Tyr |
Missense |
4/23 |
- |
4 |
17-41258545-CA-GC |
c.139_140delinsGC |
p.Cys47Ala |
Missense |
4/23 |
- |
2 |
17-41258545-C-A |
c.140G>T |
p.Cys47Phe |
Missense |
4/23 |
- |
5 |
17-41258546-A-T |
c.139T>A |
p.Cys47Ser |
Missense |
4/23 |
- |
1 |
17-41258546-A-C |
c.139T>G |
p.Cys47Gly |
Missense |
4/23 |
- |
11 |
17-41258545-C-G |
c.140G>C |
p.Cys47Ser |
Missense |
4/23 |
- |
1 |
17-41258548-AA-GC |
c.136_137delinsGC |
p.Phe46Ala |
Missense |
4/23 |
- |
1 |
17-41258549-A-G |
c.136T>C |
p.Phe46Leu |
Missense |
4/23 |
- |
1 |
17-41258547-A-T |
c.138T>A |
p.Phe46Leu |
Missense |
4/23 |
- |
1 |
17-41258547-A-C |
c.138T>G |
p.Phe46Leu |
Missense |
4/23 |
- |
1 |
17-41258550-T-A |
c.135A>T |
p.Lys45Asn |
Missense |
4/23 |
- |
2 |
17-41258550-T-G |
c.135A>C |
p.Lys45Asn |
Missense |
4/23 |
- |
2 |
17-41258550-AT-A |
c.135del |
p.Lys45Asnfs*5 |
Frameshift |
4/23 |
- |
1 |
17-41258551-C-A |
c.135-1G>T |
- |
IntronicSNV |
- |
3/22 |
3 |
17-41258552-T-C |
c.135-2A>G |
- |
IntronicSNV |
- |
3/22 |
3 |
17-41258556-A-C |
c.135-6T>G |
- |
IntronicSNV |
- |
3/22 |
1 |
17-41258572-AAGAA-A |
c.135-15_135-12del |
- |
IntronicDeletion |
- |
3/22 |
1 |
17-41258599-A-G |
c.135-49T>C |
- |
IntronicSNV |
- |
3/22 |
1 |
17-41265776-A-G |
c.134+1967T>C |
- |
IntronicSNV |
- |
3/22 |
1 |
17-41267740-T-G |
c.134+3A>C |
- |
IntronicSNV |
- |
3/22 |
2 |
17-41267741-TACTT-T |
c.134+3_134+6del |
- |
IntronicDeletion |
3/23 |
3/22 |
1 |
17-41267741-A-G |
c.134+2T>C |
- |
IntronicSNV |
- |
3/22 |
1 |
17-41267742-C-A |
c.134+1G>T |
- |
IntronicSNV |
- |
3/22 |
2 |
17-41267743-TT-GC |
c.133_134delinsGC |
p.Lys45Ala |
Missense |
3/23 |
- |
1 |
17-41267743-T-G |
c.134A>C |
p.Lys45Thr |
Missense |
3/23 |
- |
4 |
17-41267743-T-C |
c.134A>G |
p.Lys45Arg |
Missense |
3/23 |
- |
1 |
17-41267743-CTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA-C |
c.81_134del |
p.Cys27_Lys45delins* |
Unclassified |
3/23 |
- |
1 |
17-41267744-T-G |
c.133A>C |
p.Lys45Gln |
Missense |
3/23 |
- |
6 |
17-41267745-G-A |
c.132C>T |
p.Cys44Cys |
Synonymous |
3/23 |
- |
1 |
17-41267746-C-T |
c.131G>A |
p.Cys44Tyr |
Missense |
3/23 |
- |
9 |
17-41267746-C-A |
c.131G>T |
p.Cys44Phe |
Missense |
3/23 |
- |
20 |
17-41267746-CA-GC |
c.130_131delinsGC |
p.Cys44Ala |
Missense |
3/23 |
- |
2 |
17-41267747-A-C |
c.130T>G |
p.Cys44Gly |
Missense |
3/23 |
- |
1 |
17-41267747-A-T |
c.130T>A |
p.Cys44Ser |
Missense |
3/23 |
- |
13 |
17-41267753-AT-A |
c.124del |
p.Ile42Tyrfs*8 |
Frameshift |
3/23 |
- |
2 |
17-41267753-T-A |
c.124A>T |
p.Ile42Leu |
Missense |
3/23 |
- |
1 |
17-41267753-T-C |
c.124A>G |
p.Ile42Val |
Missense |
3/23 |
- |
7 |
17-41267753-TG-AT |
c.123_124delinsAT |
p.His41_Ile42delinsGlnLeu |
MultiAAMissense |
3/23 |
- |
1 |
17-41267753-T-G |
c.124A>C |
p.Ile42Leu |
Missense |
3/23 |
- |
1 |
17-41267755-TG-TT |
c.121delinsA |
p.His41Asn |
Missense |
3/23 |
- |
1 |
17-41267755-T-C |
c.122A>G |
p.His41Arg |
Missense |
3/23 |
- |
10 |
17-41267755-T-A |
c.122A>T |
p.His41Leu |
Missense |
3/23 |
- |
1 |
17-41267755-TG-GC |
c.121_122delinsGC |
p.His41Ala |
Missense |
3/23 |
- |
3 |
17-41267756-G-A |
c.121C>T |
p.His41Tyr |
Missense |
3/23 |
- |
2 |
17-41267757-GG-G |
c.121del |
p.His41Thrfs*9 |
Frameshift |
3/23 |
- |
1 |
17-41267760-A-C |
c.117T>G |
p.Cys39Trp |
Missense |
3/23 |
- |
1 |
17-41267761-C-T |
c.116G>A |
p.Cys39Tyr |
Missense |
3/23 |
- |
19 |
17-41267761-C-A |
c.116G>T |
p.Cys39Phe |
Missense |
3/23 |
- |
2 |
17-41267761-CA-AC |
c.115_116delinsGT |
p.Cys39Val |
Missense |
3/23 |
- |
1 |
17-41267761-CA-GC |
c.115_116delinsGC |
p.Cys39Ala |
Missense |
3/23 |
- |
2 |
17-41267762-A-T |
c.115T>A |
p.Cys39Ser |
Missense |
3/23 |
- |
3 |
17-41267762-A-G |
c.115T>C |
p.Cys39Arg |
Missense |
3/23 |
- |
10 |
17-41267762-A-C |
c.115T>G |
p.Cys39Gly |
Missense |
3/23 |
- |
8 |
17-41267762-CAC-C |
c.117_118del |
p.Cys39* |
Frameshift |
3/23 |
- |
3 |
17-41267763-C-T |
c.114G>A |
p.Lys38Lys |
Synonymous |
3/23 |
- |
4 |
17-41267764-TT-GC |
c.112_113delinsGC |
p.Lys38Ala |
Missense |
3/23 |
- |
1 |
17-41267766-TT-T |
c.113del |
p.Lys38Serfs*12 |
Frameshift |
3/23 |
- |
1 |
17-41267767-G-T |
c.110C>A |
p.Thr37Lys |
Missense |
3/23 |
- |
10 |
17-41267767-G-C |
c.110C>G |
p.Thr37Arg |
Missense |
3/23 |
- |
13 |
17-41267768-T-C |
c.109A>G |
p.Thr37Ala |
Missense |
3/23 |
- |
1 |
17-41267770-GG-G |
c.108del |
p.Thr37Glnfs*13 |
Frameshift |
3/23 |
- |
1 |
17-41267770-G-T |
c.107C>A |
p.Ser36Tyr |
Missense |
3/23 |
- |
3 |
17-41267771-A-G |
c.106T>C |
p.Ser36Pro |
Missense |
3/23 |
- |
1 |
17-41267771-A-C |
c.106T>G |
p.Ser36Ala |
Missense |
3/23 |
- |
1 |
17-41267775-A-C |
c.102T>G |
p.Pro34Pro |
Synonymous |
3/23 |
- |
1 |
17-41267777-G-A |
c.100C>T |
p.Pro34Ser |
Missense |
3/23 |
- |
1 |
17-41267777-G-C |
c.100C>G |
p.Pro34Ala |
Missense |
3/23 |
- |
1 |
17-41267779-T-G |
c.98A>C |
p.Glu33Ala |
Missense |
3/23 |
- |
2 |
17-41267780-C-T |
c.97G>A |
p.Glu33Lys |
Missense |
3/23 |
- |
1 |
17-41267782-TT-GC |
c.94_95delinsGC |
p.Lys32Ala |
Missense |
3/23 |
- |
2 |
17-41267784-G-C |
c.93C>G |
p.Ile31Met |
Missense |
3/23 |
- |
6 |
17-41267791-T-C |
c.86A>G |
p.Glu29Gly |
Missense |
3/23 |
- |
1 |
17-41267791-T-G |
c.86A>C |
p.Glu29Ala |
Missense |
3/23 |
- |
1 |
17-41267792-C-G |
c.85G>C |
p.Glu29Gln |
Missense |
3/23 |
- |
1 |
17-41267792-C-A |
c.85G>T |
p.Glu29* |
Nonsense |
3/23 |
- |
1 |
17-41267793-CCA-C |
c.83_84del |
p.Leu28Argfs*12 |
Frameshift |
3/23 |
- |
5 |
17-41267793-CCAGAC-C |
c.81_85del |
p.Cys27* |
SpliceAcceptorDeletion |
3/23 |
2/22 |
1 |
17-41267793-CC-C |
c.85del |
p.Glu29Serfs*2 |
Frameshift |
3/23 |
- |
1 |
17-41267794-A-G |
c.83T>C |
p.Leu28Pro |
Missense |
3/23 |
- |
3 |
17-41267794-AG-GC |
c.82_83delinsGC |
p.Leu28Ala |
Missense |
3/23 |
- |
2 |
17-41267796-A-T |
c.81T>A |
p.Cys27* |
Nonsense |
3/23 |
- |
1 |
17-41267797-C-T |
c.81-1G>A |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41267797-C-G |
c.81-1G>C |
- |
IntronicSNV |
- |
2/22 |
2 |
17-41267802-A-T |
c.81-6T>A |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41267807-TA-T |
c.81-11del |
- |
IntronicDeletion |
- |
2/22 |
1 |
17-41267808-G-C |
c.81-12C>G |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41267809-G-C |
c.81-13C>G |
- |
IntronicSNV |
- |
2/22 |
2 |
17-41267810-G-C |
c.81-14C>G |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41267810-G-A |
c.81-14C>T |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41267814-GG-G |
c.81-12del |
- |
IntronicDeletion |
- |
2/22 |
2 |
17-41268206-A-C |
c.81-410T>G |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41270229-T-G |
c.81-2433A>C |
- |
IntronicSNV |
- |
2/22 |
2 |
17-41270229-T-A |
c.81-2433A>T |
- |
IntronicSNV |
- |
2/22 |
2 |
17-41271776-T-C |
c.81-3980A>G |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41271781-T-A |
c.81-3985A>T |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41274789-C-T |
c.80+1245G>A |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41275385-TTTTTTTT-T |
c.80+661_80+667del |
- |
IntronicDeletion |
- |
2/22 |
1 |
17-41275982-A-T |
c.80+52T>A |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41276021-T-C |
c.80+13A>G |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41276029-C-T |
c.80+5G>A |
- |
IntronicSNV |
- |
2/22 |
1 |
17-41276033-C-T |
c.80+1G>A |
- |
IntronicSNV |
- |
2/22 |
2 |
17-41276034-C-T |
c.80G>A |
p.Cys27Tyr |
Missense |
2/23 |
- |
1 |
17-41276034-C-CT |
c.79_80insA |
p.Cys27* |
SpliceDonorInsertion |
2/23 |
- |
1 |
17-41276034-CA-GC |
c.79_80delinsGC |
p.Cys27Ala |
Missense |
2/23 |
- |
5 |
17-41276035-CAGATGGGACAC-C |
c.70_80del |
p.Cys24Serfs*13 |
SpliceDonorDeletion |
2/23 |
- |
4 |
17-41276037-AT-GC |
c.76_77delinsGC |
p.Ile26Ala |
Missense |
2/23 |
- |
79 |
17-41276038-T-C |
c.76A>G |
p.Ile26Val |
Missense |
2/23 |
- |
1 |
17-41276039-TGGGACACTC-T |
c.67_75del |
p.Glu23_Pro25del |
InFrameDeletion |
2/23 |
- |
1 |
17-41276040-GGGACACTCTAAGATTTTCTGCATAGCATT-G |
c.46_74del |
p.Asn16Hisfs*15 |
Frameshift |
2/23 |
- |
4 |
17-41276040-G-C |
c.74C>G |
p.Pro25Arg |
Missense |
2/23 |
- |
1 |
17-41276042-A-T |
c.72T>A |
p.Cys24* |
Nonsense |
2/23 |
- |
1 |
17-41276043-C-T |
c.71G>A |
p.Cys24Tyr |
Missense |
2/23 |
- |
2 |
17-41276043-CA-GC |
c.70_71delinsGC |
p.Cys24Ala |
Missense |
2/23 |
- |
1 |
17-41276044-A-C |
c.70T>G |
p.Cys24Gly |
Missense |
2/23 |
- |
4 |
17-41276044-A-G |
c.70T>C |
p.Cys24Arg |
Missense |
2/23 |
- |
8 |
17-41276044-CAC-C |
c.71_72del |
p.Cys24Serfs*16 |
Frameshift |
2/23 |
- |
1 |
17-41276045-CTCTAA-TACAAG |
c.64_69delinsCTTGTA |
p.Glu23Val |
MultiAAMissense |
2/23 |
- |
1 |
17-41276046-TC-AG |
c.67_68delinsCT |
p.Glu23Leu |
Missense |
2/23 |
- |
1 |
17-41276046-T-A |
c.68A>T |
p.Glu23Val |
Missense |
2/23 |
- |
2 |
17-41276046-TC-CT |
c.67_68delinsAG |
p.Glu23Arg |
Missense |
2/23 |
- |
4 |
17-41276047-C-T |
c.67G>A |
p.Glu23Lys |
Missense |
2/23 |
- |
1 |
17-41276047-C-A |
c.67G>T |
p.Glu23* |
Nonsense |
2/23 |
- |
2 |
17-41276047-C-G |
c.67G>C |
p.Glu23Gln |
Missense |
2/23 |
- |
1 |
17-41276047-TC-T |
c.67del |
p.Glu23Serfs*8 |
Frameshift |
2/23 |
- |
1 |
17-41276047-TCT-T |
c.68_69del |
p.Glu23Valfs*17 |
Frameshift |
2/23 |
- |
176 |
17-41276048-T-TT |
c.66dup |
p.Glu23Argfs*18 |
Frameshift |
2/23 |
- |
24 |
17-41276049-A-G |
c.65T>C |
p.Leu22Ser |
Missense |
2/23 |
- |
21 |
17-41276049-A-C |
c.65T>G |
p.Leu22* |
Nonsense |
2/23 |
- |
1 |
17-41276049-A-T |
c.65T>A |
p.Leu22* |
Nonsense |
2/23 |
- |
1 |
17-41276049-AA-GG |
c.64_65delinsCC |
p.Leu22Pro |
Missense |
2/23 |
- |
1 |
17-41276048-T-C |
c.66A>G |
p.Leu22Leu |
Synonymous |
2/23 |
- |
1 |
17-41276050-A-G |
c.64T>C |
p.Leu22Leu |
Synonymous |
2/23 |
- |
1 |
17-41276053-T-C |
c.61A>G |
p.Ile21Val |
Missense |
2/23 |
- |
5 |
17-41276055-TT-GC |
c.58_59delinsGC |
p.Lys20Ala |
Missense |
2/23 |
- |
2 |
17-41276055-T-G |
c.59A>C |
p.Lys20Thr |
Missense |
2/23 |
- |
1 |
17-41276059-G-A |
c.55C>T |
p.Gln19* |
Nonsense |
2/23 |
- |
1 |
17-41276061-A-T |
c.53T>A |
p.Met18Lys |
Missense |
2/23 |
- |
2 |
17-41276061-A-G |
c.53T>C |
p.Met18Thr |
Missense |
2/23 |
- |
15 |
17-41276067-ATTAATGACATTTTGTACTTCTTCAACGCG-A |
c.19_47del |
p.Arg7Cysfs*24 |
Frameshift |
2/23 |
- |
1 |
17-41276070-A-G |
c.44T>C |
p.Ile15Thr |
Missense |
2/23 |
- |
3 |
17-41276071-T-C |
c.43A>G |
p.Ile15Val |
Missense |
2/23 |
- |
1 |
17-41276071-T-G |
c.43A>C |
p.Ile15Leu |
Missense |
2/23 |
- |
1 |
17-41276073-A-C |
c.41T>G |
p.Val14Gly |
Missense |
2/23 |
- |
1 |
17-41276074-C-CC |
c.40dup |
p.Val14Glyfs*3 |
Frameshift |
2/23 |
- |
1 |
17-41276074-C-T |
c.40G>A |
p.Val14Ile |
Missense |
2/23 |
- |
1 |
17-41276075-CATT-C |
c.37_39del |
p.Asn13del |
InFrameDeletion |
2/23 |
- |
3 |
17-41276075-A-T |
c.39T>A |
p.Asn13Lys |
Missense |
2/23 |
- |
1 |
17-41276079-TG-GC |
c.34_35delinsGC |
p.Gln12Ala |
Missense |
2/23 |
- |
1 |
17-41276080-G-A |
c.34C>T |
p.Gln12* |
Nonsense |
2/23 |
- |
2 |
17-41276082-AC-TA |
c.31_32delinsTA |
p.Val11* |
Nonsense |
2/23 |
- |
1 |
17-41276082-A-G |
c.32T>C |
p.Val11Ala |
Missense |
2/23 |
- |
4 |
17-41276085-T-G |
c.29A>C |
p.Glu10Ala |
Missense |
2/23 |
- |
1 |
17-41276085-TTCTTCAACGC-T |
c.20_29del |
p.Arg7Glnfs*13 |
Frameshift |
2/23 |
- |
1 |
17-41276086-TCTTCAACGC-T |
c.20_28del |
p.Arg7_Glu10delinsGln |
MultiAAMissense |
2/23 |
- |
1 |
17-41276094-C-T |
c.20G>A |
p.Arg7His |
Missense |
2/23 |
- |
1 |
17-41276095-G-A |
c.19C>T |
p.Arg7Cys |
Missense |
2/23 |
- |
2 |
17-41276106-A-T |
c.8T>A |
p.Leu3* |
Nonsense |
2/23 |
- |
1 |
17-41276106-A-C |
c.8T>G |
p.Leu3* |
Nonsense |
2/23 |
- |
1 |
17-41276111-C-A |
c.3G>T |
p.Met1? |
Missense |
2/23 |
- |
3 |
17-41276112-A-C |
c.2T>G |
p.Met1? |
Missense |
2/23 |
- |
2 |
17-41276113-T-C |
c.1A>G |
p.Met1? |
Missense |
2/23 |
- |
7 |
17-41276113-T-G |
c.1A>C |
p.Met1? |
Missense |
2/23 |
- |
3 |
17-41276114-T-A |
c.-1A>T |
- |
5-UTRSNV |
2/23 |
- |
1 |
17-41276115-T-A |
c.-2A>T |
- |
5-UTRSNV |
2/23 |
- |
1 |
17-41276116-C-G |
c.-3G>C |
- |
5-UTRSNV |
2/23 |
- |
1 |
17-41276135-T-C |
c.-19-3A>G |
- |
IntronicSNV |
- |
1/22 |
2 |
17-41276137-A-G |
c.-19-5T>C |
- |
IntronicSNV |
- |
1/22 |
1 |
17-41276139-C-T |
c.-19-7G>A |
- |
IntronicSNV |
- |
1/22 |
1 |
17-41276247-A-G |
c.-19-115T>C |
- |
IntronicSNV |
- |
1/22 |
6 |
17-41276290-G-A |
c.-19-158C>T |
- |
IntronicSNV |
- |
1/22 |
1 |
17-41276348-T-C |
c.-19-216A>G |
- |
IntronicSNV |
- |
1/22 |
2 |
17-41276475-A-C |
c.-19-343T>G |
- |
IntronicSNV |
- |
1/22 |
1 |
17-41277187-G-T |
c.-20+101C>A |
- |
intron_variant |
- |
1/22 |
5 |
17-41277187-G-C |
c.-20+101C>G |
- |
intron_variant |
- |
1/22 |
5 |
17-41277187-G-A |
c.-20+101C>T |
- |
intron_variant |
- |
1/22 |
5 |