BRCA1 BRCA1 DNA repair associated

Canonical transcript: NM_007294

2670 unique variant annotations were identified in 1601 publications
Gene-Specific Resource Links:
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Entrez
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COSMIC
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ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
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