BRCA1

BRCA1 BRCA1 DNA repair associated

Annotation transcript: NM_007294.4

22113 unique variant annotations were identified in 6544 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
17-41196363-C-G c.*1332G>C - 3-UTRSNV 23/23 - 3
17-41196363-C-T c.*1332G>A - 3-UTRSNV 23/23 - 3
17-41196365-A-G c.*1330T>C - 3-UTRSNV 23/23 - 1
17-41196368-C-T c.*1327G>A - 3-UTRSNV 23/23 - 3
17-41196372-T-C c.*1323A>G - 3-UTRSNV 23/23 - 2
17-41196403-A-G c.*1292T>C - 3-UTRSNV 23/23 - 3
17-41196408-G-A c.*1287C>T - 3-UTRSNV 23/23 - 33
17-41196409-G-A c.*1286C>T - 3-UTRSNV 23/23 - 1
17-41196409-G-C c.*1286C>G - 3-UTRSNV 23/23 - 1
17-41196409-G-T c.*1286C>A - 3-UTRSNV 23/23 - 1
17-41196411-G-A c.*1284C>T - 3-UTRSNV 23/23 - 1
17-41196414-G-A c.*1281C>T - 3-UTRSNV 23/23 - 1
17-41196414-G-C c.*1281C>G - 3-UTRSNV 23/23 - 1
17-41196414-G-T c.*1281C>A - 3-UTRSNV 23/23 - 1
17-41196444-A-T c.*1251T>A - 3-UTRSNV 23/23 - 1
17-41196444-A-G c.*1251T>C - 3-UTRSNV 23/23 - 1
17-41196511-T-C c.*1184A>G - 3-UTRSNV 23/23 - 1
17-41196578-C-T c.*1117G>A - 3-UTRSNV 23/23 - 1
17-41196582-C-T c.*1113G>A - 3-UTRSNV 23/23 - 3
17-41196625-G-C c.*1070C>G - 3-UTRSNV 23/23 - 2
17-41196647-A-G c.*1048T>C - 3-UTRSNV 23/23 - 1
17-41196725-C-T c.*970G>A - 3-UTRSNV 23/23 - 1
17-41196726-G-A c.*969C>T - 3-UTRSNV 23/23 - 1
17-41196762-C-T c.*933G>A - 3-UTRSNV 23/23 - 1
17-41196779-A-G c.*916T>C - 3-UTRSNV 23/23 - 1
17-41196876-C-T c.*819G>A - 3-UTRSNV 23/23 - 1
17-41196914-G-A c.*781C>T - 3-UTRSNV 23/23 - 2
17-41196945-T-C c.*750A>G - 3-UTRSNV 23/23 - 3
17-41196981-C-A c.*714G>T - 3-UTRSNV 23/23 - 1
17-41196981-C-T c.*714G>A - 3-UTRSNV 23/23 - 1
17-41196982-G-A c.*713C>T - 3-UTRSNV 23/23 - 1
17-41197002-G-A c.*693C>T - 3-UTRSNV 23/23 - 2
17-41197040-C-T c.*655G>A - 3-UTRSNV 23/23 - 1
17-41197045-T-C c.*650A>G - 3-UTRSNV 23/23 - 1
17-41197113-G-A c.*582C>T - 3-UTRSNV 23/23 - 2
17-41197159-T-C c.*536A>G - 3-UTRSNV 23/23 - 1
17-41197170-A-G c.*525T>C - 3-UTRSNV 23/23 - 1
17-41197230-C-T c.*465G>A - 3-UTRSNV 23/23 - 1
17-41197274-C-A c.*421G>T - 3-UTRSNV 23/23 - 44
17-41197334-C-A c.*361G>T - 3-UTRSNV 23/23 - 1
17-41197334-C-G c.*361G>C - 3-UTRSNV 23/23 - 1
17-41197334-C-T c.*361G>A - 3-UTRSNV 23/23 - 1
17-41197423-T-C c.*272A>G - 3-UTRSNV 23/23 - 1
17-41197430-C-T c.*265G>A - 3-UTRSNV 23/23 - 1
17-41197431-G-A c.*264C>T - 3-UTRSNV 23/23 - 1
17-41197467-T-C c.*228A>G - 3-UTRSNV 23/23 - 2
17-41197472-T-C c.*223A>G - 3-UTRSNV 23/23 - 1
17-41197486-T-A c.*209A>T - 3-UTRSNV 23/23 - 1
17-41197490-A-C c.*205T>G - 3-UTRSNV 23/23 - 1
17-41197509-C-T c.*186G>A - 3-UTRSNV 23/23 - 1
17-41197589-G-A c.*106C>T - 3-UTRSNV 23/23 - 1
17-41197589-G-C c.*106C>G - 3-UTRSNV 23/23 - 1
17-41197589-G-T c.*106C>A - 3-UTRSNV 23/23 - 1
17-41197610-T-C c.*85A>G - 3-UTRSNV 23/23 - 1
17-41197637-G-A c.*58C>T - 3-UTRSNV 23/23 - 3
17-41197637-G-T c.*58C>A - 3-UTRSNV 23/23 - 3
17-41197652-C-A c.*43G>T - 3-UTRSNV 23/23 - 1
17-41197659-G-A c.*36C>T - 3-UTRSNV 23/23 - 12
17-41197659-G-C c.*36C>G - 3-UTRSNV 23/23 - 12
17-41197664-C-T c.*31G>A - 3-UTRSNV 23/23 - 2
17-41197696-C-A c.5591G>T p.*1864Lext*39 Missense 23/23 - 1
17-41197696-C-G c.5591G>C p.*1864Sext*39 Missense 23/23 - 1
17-41197697-A-C c.5590T>G p.*1864Gext*39 Missense 23/23 - 1
17-41197697-A-G c.5590T>C p.*1864Rext*39 Missense 23/23 - 1
17-41197697-A-T c.5590T>A p.*1864Rext*39 Missense 23/23 - 1
17-41197698-G-C c.5589C>G p.Y1863* Nonsense 23/23 - 1
17-41197698-G-T c.5589C>A p.Y1863* Nonsense 23/23 - 1
17-41197699-T-C c.5588A>G p.Y1863C Missense 23/23 - 4
17-41197699-T-A c.5588A>T p.Y1863F Missense 23/23 - 1
17-41197699-T-G c.5588A>C p.Y1863S Missense 23/23 - 1
17-41197700-A-C c.5587T>G p.Y1863D Missense 23/23 - 5
17-41197700-A-G c.5587T>C p.Y1863H Missense 23/23 - 1
17-41197700-A-T c.5587T>A p.Y1863N Missense 23/23 - 2
17-41197701-G-A c.5586C>T p.H1862= Synonymous 23/23 - 3
17-41197701-G-C c.5586C>G p.H1862Q Missense 23/23 - 3
17-41197701-G-T c.5586C>A p.H1862Q Missense 23/23 - 3
17-41197702-T-A c.5585A>T p.H1862L Missense 23/23 - 12
17-41197702-T-G c.5585A>C p.H1862P Missense 23/23 - 4
17-41197702-T-C c.5585A>G p.H1862R Missense 23/23 - 7
17-41197703-G-A c.5584C>T p.H1862Y Missense 23/23 - 4
17-41197703-G-C c.5584C>G p.H1862D Missense 23/23 - 3
17-41197703-G-T c.5584C>A p.H1862N Missense 23/23 - 3
17-41197704-G-GA c.5582_5583insT p.H1862Pfs*18 Frameshift 23/23 - 1
17-41197704-GCT-TCA c.5581_5583delinsTGA p.S1861* Nonsense 23/23 - 1
17-41197704-G-C c.5583C>G p.S1861R Missense 23/23 - 3
17-41197704-G-T c.5583C>A p.S1861R Missense 23/23 - 3
17-41197702-T-TG c.5584dup p.H1862Pfs*18 Frameshift 23/23 - 1
17-41197705-C-T c.5582G>A p.S1861N Missense 23/23 - 4
17-41197705-C-CGGG c.5581_5582insCCC p.S1861delinsTR MultiAAMissense 23/23 - 1
17-41197705-C-G c.5582G>C p.S1861T Missense 23/23 - 4
17-41197705-C-A c.5582G>T p.S1861I Missense 23/23 - 3
17-41197706-T-C c.5581A>G p.S1861G Missense 23/23 - 4
17-41197706-T-G c.5581A>C p.S1861R Missense 23/23 - 3
17-41197706-T-A c.5581A>T p.S1861C Missense 23/23 - 3
17-41197707-G-T c.5580C>A p.H1860Q Missense 23/23 - 4
17-41197707-G-C c.5580C>G p.H1860Q Missense 23/23 - 5
17-41197706-T-TGGG c.5580_5581insCCC p.H1860_S1861insP InFrameInsertion 23/23 - 1
17-41197706-T-TGGGGGGGGG c.5580_5581insCCCCCCCCC p.H1860_S1861insPPP InFrameInsertion 23/23 - 1
17-41197705-C-CTGGGGGGGG c.5581_5582insCCCCCCCCA p.H1860_S1861insTPP InFrameInsertion 23/23 - 1
17-41197706-T-TG c.5580dup p.S1861Qfs*19 Frameshift 23/23 - 1
17-41197706-TGTGG-T c.5577_5580del p.H1860Afs*61 Frameshift 23/23 - 5
17-41197708-T-A c.5579A>T p.H1860L Missense 23/23 - 4
17-41197708-T-G c.5579A>C p.H1860P Missense 23/23 - 11
17-41197708-T-C c.5579A>G p.H1860R Missense 23/23 - 3
17-41197709-G-A c.5578C>T p.H1860Y Missense 23/23 - 5
17-41197709-G-C c.5578C>G p.H1860D Missense 23/23 - 3
17-41197709-G-T c.5578C>A p.H1860N Missense 23/23 - 3
17-41197708-TGGGG-T c.5575_5578del p.P1859Tfs*62 Frameshift 23/23 - 1
17-41197710-G-A c.5577C>T p.P1859= Synonymous 23/23 - 1
17-41197711-G-C c.5576C>G p.P1859R Missense 23/23 - 26
17-41197708-TGGG-T c.5576_5578del p.P1859del InFrameDeletion 23/23 - 2
17-41197711-GG-CC c.5575_5576inv p.P1859G Missense 23/23 - 1
17-41197711-G-T c.5576C>A p.P1859H Missense 23/23 - 4
17-41197711-G-A c.5576C>T p.P1859L Missense 23/23 - 3
17-41197712-G-A c.5575C>T p.P1859S Missense 23/23 - 9
17-41197712-G-T c.5575C>A p.P1859T Missense 23/23 - 5
17-41197712-G-C c.5575C>G p.P1859A Missense 23/23 - 3
17-41197713-G-T c.5574C>A p.I1858= Synonymous 23/23 - 1
17-41197713-G-A c.5574C>T p.I1858= Synonymous 23/23 - 2
17-41197708-T-TG c.5578dup p.H1860Pfs*20 Frameshift 23/23 - 6
17-41197707-GTGGGGGATC-G c.5571_5579del p.Q1857_P1859del InFrameDeletion 23/23 - 5
17-41197713-GAT-TTA c.5572_5574delinsTAA p.I1858* Nonsense 23/23 - 1
17-41197708-TG-T c.5578del p.H1860Tfs*62 Frameshift 23/23 - 2
17-41197713-G-C c.5574C>G p.I1858M Missense 23/23 - 6
17-41197714-A-G c.5573T>C p.I1858T Missense 23/23 - 12
17-41197714-GA-G c.5573del p.I1858Tfs*64 Frameshift 23/23 - 1
17-41197714-A-C c.5573T>G p.I1858S Missense 23/23 - 3
17-41197714-A-T c.5573T>A p.I1858N Missense 23/23 - 3
17-41197715-T-G c.5572A>C p.I1858L Missense 23/23 - 20
17-41197715-T-A c.5572A>T p.I1858F Missense 23/23 - 7
17-41197715-T-C c.5572A>G p.I1858V Missense 23/23 - 3
17-41197716-C-A c.5571G>T p.Q1857H Missense 23/23 - 9
17-41197716-C-G c.5571G>C p.Q1857H Missense 23/23 - 9
17-41197716-C-T c.5571G>A p.Q1857= Synonymous 23/23 - 2
17-41197714-ATC-A c.5571_5572del p.Q1857Hfs*22 Frameshift 23/23 - 1
17-41197717-T-C c.5570A>G p.Q1857R Missense 23/23 - 4
17-41197713-GATCTGGGGT-G c.5565_5573del p.Q1857_P1859del InFrameDeletion 23/23 - 3
17-41197717-T-A c.5570A>T p.Q1857L Missense 23/23 - 3
17-41197717-T-G c.5570A>C p.Q1857P Missense 23/23 - 3
17-41197718-G-A c.5569C>T p.Q1857* Nonsense 23/23 - 5
17-41197718-G-C c.5569C>G p.Q1857E Missense 23/23 - 3
17-41197718-G-T c.5569C>A p.Q1857K Missense 23/23 - 3
17-41197719-GGG-TTA c.5566_5568delinsTAA p.P1856* Nonsense 23/23 - 2
17-41197720-G-A c.5567C>T p.P1856L Missense 23/23 - 5
17-41197720-GG-AA c.5566_5567delinsTT p.P1856F Missense 23/23 - 1
17-41197717-TGGGGTATCAGGTA-T c.5557_5569del p.Y1853Rfs*65 Frameshift 23/23 - 2
17-41197720-GG-CC c.5566_5567inv p.P1856G Missense 23/23 - 1
17-41197720-G-C c.5567C>G p.P1856R Missense 23/23 - 3
17-41197720-G-T c.5567C>A p.P1856H Missense 23/23 - 3
17-41197721-G-A c.5566C>T p.P1856S Missense 23/23 - 25
17-41197717-TG-T c.5569del p.Q1857Rfs*65 Frameshift 23/23 - 2
17-41197721-G-T c.5566C>A p.P1856T Missense 23/23 - 9
17-41197721-G-C c.5566C>G p.P1856A Missense 23/23 - 3
17-41197722-T-G c.5565A>C p.I1855= Synonymous 23/23 - 2
17-41197722-T-A c.5565A>T p.I1855= Synonymous 23/23 - 1
17-41197722-T-C c.5565A>G p.I1855M Missense 23/23 - 6
17-41197723-A-T c.5564T>A p.I1855K Missense 23/23 - 4
17-41197723-A-G c.5564T>C p.I1855T Missense 23/23 - 9
17-41197723-A-C c.5564T>G p.I1855R Missense 23/23 - 5
17-41197723-TATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTC-T c.5506_5564del p.E1836Tfs*24 Frameshift 23/23 - 1
17-41197723-AT-TA c.5563_5564delinsTA p.I1855* Nonsense 23/23 - 1
17-41197723-TA-T c.5564del p.I1855Nfs*67 Frameshift 23/23 - 1
17-41197724-T-G c.5563A>C p.I1855L Missense 23/23 - 5
17-41197724-T-A c.5563A>T p.I1855L Missense 23/23 - 5
17-41197724-T-C c.5563A>G p.I1855V Missense 23/23 - 5
17-41197724-AT-A c.5563del p.I1855Yfs*67 Frameshift 23/23 - 1
17-41197725-C-A c.5562G>T p.L1854= Synonymous 23/23 - 1
17-41197725-C-T c.5562G>A p.L1854= Synonymous 23/23 - 2
17-41197725-C-G c.5562G>C p.L1854= Synonymous 23/23 - 1
17-41197725-TC-T c.5562del p.I1855Yfs*67 Frameshift 23/23 - 2
17-41197724-T-TC c.5562dup p.I1855Dfs*25 Frameshift 23/23 - 2
17-41197726-A-T c.5561T>A p.L1854Q Missense 23/23 - 5
17-41197726-A-G c.5561T>C p.L1854P Missense 23/23 - 15
17-41197726-A-C c.5561T>G p.L1854R Missense 23/23 - 5
17-41197727-G-T c.5560C>A p.L1854M Missense 23/23 - 8
17-41197727-G-C c.5560C>G p.L1854V Missense 23/23 - 5
17-41197727-G-A c.5560C>T p.L1854= Synonymous 23/23 - 1
17-41197727-G-GA c.5559_5560insT p.L1854Sfs*26 Frameshift 23/23 - 1
17-41197727-G-GTTA c.5559_5560insTAA p.Y1853_L1854ins* InFrameInsertion 23/23 - 1
17-41197728-G-T c.5559C>A p.Y1853* Nonsense 23/23 - 38
17-41197728-G-C c.5559C>G p.Y1853* Nonsense 23/23 - 23
17-41197728-G-A c.5559C>T p.Y1853= Synonymous 23/23 - 1
17-41197726-AGGTAG-A c.5556_5560del p.Y1853Dfs*25 Frameshift 23/23 - 5
17-41197726-AG-A c.5560del p.L1854* Frameshift 23/23 - 4
17-41197729-T-C c.5558A>G p.Y1853C Missense 23/23 - 33
17-41197729-T-G c.5558A>C p.Y1853S Missense 23/23 - 6
17-41197729-T-A c.5558A>T p.Y1853F Missense 23/23 - 6
17-41197728-G-GT c.5558dup p.Y1853* Nonsense 23/23 - 16
17-41197729-GTAGGT-G c.5554_5558del p.T1852Pfs*26 Frameshift 23/23 - 1
17-41197730-A-T c.5557T>A p.Y1853N Missense 23/23 - 7
17-41197730-A-G c.5557T>C p.Y1853H Missense 23/23 - 6
17-41197730-A-C c.5557T>G p.Y1853D Missense 23/23 - 6
17-41197731-G-T c.5556C>A p.T1852= Synonymous 23/23 - 1
17-41197731-G-C c.5556C>G p.T1852= Synonymous 23/23 - 1
17-41197731-G-A c.5556C>T p.T1852= Synonymous 23/23 - 2
17-41197732-G-A c.5555C>T p.T1852I Missense 23/23 - 13
17-41197732-G-C c.5555C>G p.T1852S Missense 23/23 - 7
17-41197732-G-T c.5555C>A p.T1852N Missense 23/23 - 5
17-41197733-T-G c.5554A>C p.T1852P Missense 23/23 - 6
17-41197733-T-C c.5554A>G p.T1852A Missense 23/23 - 7
17-41197733-T-A c.5554A>T p.T1852S Missense 23/23 - 7
17-41197734-G-T c.5553C>A p.D1851E Missense 23/23 - 11
17-41197734-G-C c.5553C>G p.D1851E Missense 23/23 - 7
17-41197734-G-A c.5553C>T p.D1851= Synonymous 23/23 - 3
17-41197733-T-TG c.5553dup p.T1852Hfs*28 Frameshift 23/23 - 7
17-41197730-AGGTGTCCAGCTCCTGGCACT-A c.5537_5556del p.Q1846Lfs*27 Frameshift 23/23 - 5
17-41197731-GGT-G c.5554_5555del p.T1852Lfs*27 Frameshift 23/23 - 3
17-41197735-T-G c.5552A>C p.D1851A Missense 23/23 - 5
17-41197735-T-C c.5552A>G p.D1851G Missense 23/23 - 6
17-41197735-T-A c.5552A>T p.D1851V Missense 23/23 - 5
17-41197736-C-T c.5551G>A p.D1851N Missense 23/23 - 5
17-41197736-C-G c.5551G>C p.D1851H Missense 23/23 - 5
17-41197736-C-A c.5551G>T p.D1851Y Missense 23/23 - 5
17-41197737-C-T c.5550G>A p.L1850= Synonymous 23/23 - 3
17-41197737-C-G c.5550G>C p.L1850= Synonymous 23/23 - 1
17-41197737-C-A c.5550G>T p.L1850= Synonymous 23/23 - 1
17-41197735-TC-T c.5551del p.D1851Tfs*4 Frameshift 23/23 - 5
17-41197738-A-T c.5549T>A p.L1850Q Missense 23/23 - 5
17-41197738-A-G c.5549T>C p.L1850P Missense 23/23 - 5
17-41197738-A-C c.5549T>G p.L1850R Missense 23/23 - 5
17-41197738-AG-TA c.5548_5549delinsTA p.L1850* Nonsense 23/23 - 1
17-41197738-AG-GC c.5548_5549delinsGC p.L1850A Missense 23/23 - 1
17-41197739-G-T c.5548C>A p.L1850M Missense 23/23 - 6
17-41197739-G-C c.5548C>G p.L1850V Missense 23/23 - 5
17-41197739-G-A c.5548C>T p.L1850= Synonymous 23/23 - 1
17-41197739-AG-A c.5548del p.L1850Wfs*5 Frameshift 23/23 - 5
17-41197740-C-T c.5547G>A p.E1849= Synonymous 23/23 - 1
17-41197740-C-G c.5547G>C p.E1849D Missense 23/23 - 5
17-41197740-C-A c.5547G>T p.E1849D Missense 23/23 - 5
17-41197741-T-G c.5546A>C p.E1849A Missense 23/23 - 4
17-41197741-T-C c.5546A>G p.E1849G Missense 23/23 - 5
17-41197741-T-A c.5546A>T p.E1849V Missense 23/23 - 4
17-41197742-C-T c.5545G>A p.E1849K Missense 23/23 - 9
17-41197742-C-G c.5545G>C p.E1849Q Missense 23/23 - 5
17-41197742-C-A c.5545G>T p.E1849* Nonsense 23/23 - 5
17-41197739-GCTC-G c.5545_5547del p.E1849del InFrameDeletion 23/23 - 1
17-41197743-C-T c.5544G>A p.Q1848= Synonymous 23/23 - 2
17-41197743-C-G c.5544G>C p.Q1848H Missense 23/23 - 5
17-41197743-C-A c.5544G>T p.Q1848H Missense 23/23 - 4
17-41197744-T-G c.5543A>C p.Q1848P Missense 23/23 - 5
17-41197744-T-C c.5543A>G p.Q1848R Missense 23/23 - 5
17-41197744-T-A c.5543A>T p.Q1848L Missense 23/23 - 5
17-41197745-G-T c.5542C>A p.Q1848K Missense 23/23 - 5
17-41197745-G-C c.5542C>G p.Q1848E Missense 23/23 - 5
17-41197745-G-A c.5542C>T p.Q1848* Nonsense 23/23 - 9
17-41197746-G-T c.5541C>A p.C1847* Nonsense 23/23 - 7
17-41197746-G-C c.5541C>G p.C1847W Missense 23/23 - 6
17-41197746-G-A c.5541C>T p.C1847= Synonymous 23/23 - 2
17-41197744-TG-T c.5542del p.Q1848Rfs*7 Frameshift 23/23 - 1
17-41197747-C-G c.5540G>C p.C1847S Missense 23/23 - 5
17-41197747-C-T c.5540G>A p.C1847Y Missense 23/23 - 6
17-41197747-C-A c.5540G>T p.C1847F Missense 23/23 - 9
17-41197747-GCACTGGTA-G c.5533_5540del p.Y1845Pfs*32 Frameshift 23/23 - 2
17-41197748-A-T c.5539T>A p.C1847S Missense 23/23 - 5
17-41197748-A-G c.5539T>C p.C1847R Missense 23/23 - 5
17-41197748-A-C c.5539T>G p.C1847G Missense 23/23 - 5
17-41197749-C-T c.5538G>A p.Q1846= Synonymous 23/23 - 6
17-41197749-C-G c.5538G>C p.Q1846H Missense 23/23 - 8
17-41197749-C-A c.5538G>T p.Q1846H Missense 23/23 - 5
17-41197747-CACTGGT-C c.5534_5539del p.Y1845_Q1846del InFrameDeletion 23/23 - 2
17-41197750-T-G c.5537A>C p.Q1846P Missense 23/23 - 5
17-41197750-T-C c.5537A>G p.Q1846R Missense 23/23 - 5
17-41197750-T-A c.5537A>T p.Q1846L Missense 23/23 - 5
17-41197751-G-T c.5536C>A p.Q1846K Missense 23/23 - 7
17-41197751-G-C c.5536C>G p.Q1846E Missense 23/23 - 5
17-41197751-G-A c.5536C>T p.Q1846* Nonsense 23/23 - 14
17-41197752-G-T c.5535C>A p.Y1845* Nonsense 23/23 - 9
17-41197752-G-C c.5535C>G p.Y1845* Nonsense 23/23 - 5
17-41197752-G-A c.5535C>T p.Y1845= Synonymous 23/23 - 1
17-41197750-TG-T c.5536del p.Q1846Sfs*9 Frameshift 23/23 - 3
17-41197753-T-G c.5534A>C p.Y1845S Missense 23/23 - 5
17-41197753-T-C c.5534A>G p.Y1845C Missense 23/23 - 8
17-41197753-T-A c.5534A>T p.Y1845F Missense 23/23 - 5
17-41197753-GT-G c.5534del p.Y1845Sfs*10 Frameshift 23/23 - 5
17-41197753-T-TC c.5533_5534insG p.Y1845* Nonsense 23/23 - 3
17-41197753-GTA-G c.5533_5534del p.Y1845Pfs*34 Frameshift 23/23 - 1
17-41197754-A-T c.5533T>A p.Y1845N Missense 23/23 - 5
17-41197754-A-G c.5533T>C p.Y1845H Missense 23/23 - 5
17-41197754-A-C c.5533T>G p.Y1845D Missense 23/23 - 4
17-41197753-T-TA c.5533dup p.Y1845Lfs*35 Frameshift 23/23 - 5
17-41197754-A-AC c.5532_5533insG p.Y1845Vfs*35 Frameshift 23/23 - 3
17-41197755-G-T c.5532C>A p.L1844= Synonymous 23/23 - 1
17-41197755-G-C c.5532C>G p.L1844= Synonymous 23/23 - 4
17-41197755-G-A c.5532C>T p.L1844= Synonymous 23/23 - 2
17-41197756-A-T c.5531T>A p.L1844H Missense 23/23 - 5
17-41197756-A-G c.5531T>C p.L1844P Missense 23/23 - 17
17-41197756-A-C c.5531T>G p.L1844R Missense 23/23 - 17
17-41197753-TAG-T c.5532_5533del p.Y1845Pfs*34 Frameshift 23/23 - 2
17-41197757-G-T c.5530C>A p.L1844I Missense 23/23 - 11
17-41197757-G-C c.5530C>G p.L1844V Missense 23/23 - 5
17-41197757-G-A c.5530C>T p.L1844F Missense 23/23 - 6
17-41197757-AG-A c.5530del p.L1844Sfs*11 Frameshift 23/23 - 6
17-41197755-GAGTGCTAC-G c.5524_5531del p.V1842Lfs*35 Frameshift 23/23 - 2
17-41197757-GT-TG c.5529_5530delinsCA p.L1844I Missense 23/23 - 1
17-41197758-T-C c.5529A>G p.A1843= Synonymous 23/23 - 1
17-41197758-T-A c.5529A>T p.A1843= Synonymous 23/23 - 1
17-41197758-T-G c.5529A>C p.A1843= Synonymous 23/23 - 2
17-41197759-G-T c.5528C>A p.A1843E Missense 23/23 - 7
17-41197759-G-C c.5528C>G p.A1843G Missense 23/23 - 5
17-41197759-G-A c.5528C>T p.A1843V Missense 23/23 - 7
17-41197760-C-G c.5527G>C p.A1843P Missense 23/23 - 19
17-41197760-C-T c.5527G>A p.A1843T Missense 23/23 - 7
17-41197760-C-A c.5527G>T p.A1843S Missense 23/23 - 4
17-41197760-C-CT c.5526dup p.A1843Sfs*37 Frameshift 23/23 - 1
17-41197761-T-G c.5526A>C p.V1842= Synonymous 23/23 - 2
17-41197761-T-C c.5526A>G p.V1842= Synonymous 23/23 - 2
17-41197761-T-A c.5526A>T p.V1842= Synonymous 23/23 - 2
17-41197761-CT-C c.5526del p.A1843Hfs*12 Frameshift 23/23 - 1
17-41197762-A-T c.5525T>A p.V1842E Missense 23/23 - 7
17-41197762-A-G c.5525T>C p.V1842A Missense 23/23 - 6
17-41197762-A-C c.5525T>G p.V1842G Missense 23/23 - 5
17-41197762-TA-T c.5525del p.V1842Efs*13 Frameshift 23/23 - 5
17-41197763-C-T c.5524G>A p.V1842I Missense 23/23 - 7
17-41197763-C-G c.5524G>C p.V1842L Missense 23/23 - 6
17-41197763-C-A c.5524G>T p.V1842L Missense 23/23 - 6
17-41197764-A-T c.5523T>A p.S1841R Missense 23/23 - 11
17-41197764-A-C c.5523T>G p.S1841R Missense 23/23 - 10
17-41197764-A-G c.5523T>C p.S1841= Synonymous 23/23 - 1
17-41197764-ACT-TCA c.5521_5523delinsTGA p.S1841* Nonsense 23/23 - 1
17-41197765-C-T c.5522G>A p.S1841N Missense 23/23 - 19
17-41197765-C-G c.5522G>C p.S1841T Missense 23/23 - 11
17-41197765-C-A c.5522G>T p.S1841I Missense 23/23 - 5
17-41197765-CT-AC c.5521_5522delinsGT p.S1841V Missense 23/23 - 1
17-41197765-CT-GC c.5521_5522delinsGC p.S1841A Missense 23/23 - 2
17-41197765-AC-A c.5522del p.S1841Mfs*2 Frameshift 23/23 - 1
17-41197766-T-G c.5521A>C p.S1841R Missense 23/23 - 18
17-41197766-T-C c.5521A>G p.S1841G Missense 23/23 - 5
17-41197766-T-A c.5521A>T p.S1841C Missense 23/23 - 5
17-41197766-CT-C c.5521del p.S1841Vfs*2 Frameshift 23/23 - 17
17-41197767-G-C c.5520C>G p.D1840E Missense 23/23 - 4
17-41197767-G-T c.5520C>A p.D1840E Missense 23/23 - 3
17-41197767-G-A c.5520C>T p.D1840= Synonymous 23/23 - 3
17-41197762-ACACTGTCCAACACC-A c.5511_5524del p.W1837Cfs*38 Frameshift 23/23 - 4
17-41197766-T-TG c.5520dup p.S1841Qfs*39 Frameshift 23/23 - 1
17-41197768-T-G c.5519A>C p.D1840A Missense 23/23 - 5
17-41197768-T-C c.5519A>G p.D1840G Missense 23/23 - 5
17-41197768-T-A c.5519A>T p.D1840V Missense 23/23 - 5
17-41197768-TC-GT c.5518_5519delinsAC p.D1840T Missense 23/23 - 1
17-41197769-C-T c.5518G>A p.D1840N Missense 23/23 - 8
17-41197769-C-G c.5518G>C p.D1840H Missense 23/23 - 5
17-41197769-C-A c.5518G>T p.D1840Y Missense 23/23 - 5
17-41197769-C-CG c.5517_5518insC p.D1840Rfs*40 Frameshift 23/23 - 2
17-41197770-C-G c.5517G>C p.L1839F Missense 23/23 - 5
17-41197770-C-A c.5517G>T p.L1839F Missense 23/23 - 7
17-41197768-TC-T c.5518del p.D1840Tfs*3 Frameshift 23/23 - 2
17-41197771-A-T c.5516T>A p.L1839* Nonsense 23/23 - 2
17-41197771-A-G c.5516T>C p.L1839S Missense 23/23 - 20
17-41197771-A-C c.5516T>G p.L1839W Missense 23/23 - 3
17-41197772-A-G c.5515T>C p.L1839= Synonymous 23/23 - 2
17-41197772-A-C c.5515T>G p.L1839V Missense 23/23 - 5
17-41197770-C-T c.5517G>A p.L1839= Synonymous 23/23 - 1
17-41197772-A-T c.5515T>A p.L1839M Missense 23/23 - 3
17-41197772-ACAC-T c.5512_5515delinsA p.V1838_L1839delinsM MultiAAMissense 23/23 - 1
17-41197773-C-T c.5514G>A p.V1838= Synonymous 23/23 - 2
17-41197773-C-G c.5514G>C p.V1838= Synonymous 23/23 - 1
17-41197773-C-A c.5514G>T p.V1838= Synonymous 23/23 - 2
17-41197774-A-T c.5513T>A p.V1838E Missense 23/23 - 35
17-41197774-A-G c.5513T>C p.V1838A Missense 23/23 - 5
17-41197774-A-C c.5513T>G p.V1838G Missense 23/23 - 18
17-41197775-C-T c.5512G>A p.V1838M Missense 23/23 - 9
17-41197775-C-G c.5512G>C p.V1838L Missense 23/23 - 5
17-41197775-C-A c.5512G>T p.V1838L Missense 23/23 - 10
17-41197776-C-T c.5511G>A p.W1837* Nonsense 23/23 - 23
17-41197776-C-G c.5511G>C p.W1837C Missense 23/23 - 20
17-41197776-C-A c.5511G>T p.W1837C Missense 23/23 - 23
17-41197777-C-T c.5510G>A p.W1837* Nonsense 23/23 - 17
17-41197777-C-G c.5510G>C p.W1837S Missense 23/23 - 7
17-41197777-C-A c.5510G>T p.W1837L Missense 23/23 - 6
17-41197774-A-AC c.5512dup p.V1838Gfs*42 Frameshift 23/23 - 2
17-41197774-AC-A c.5512del p.V1838Cfs*5 Frameshift 23/23 - 5
17-41197778-A-C c.5509T>G p.W1837G Missense 23/23 - 30
17-41197778-A-T c.5509T>A p.W1837R Missense 23/23 - 19
17-41197778-A-G c.5509T>C p.W1837R Missense 23/23 - 46
17-41197776-CCA-C c.5509_5510del p.W1837Gfs*42 Frameshift 23/23 - 3
17-41197779-C-T c.5508G>A p.E1836= Synonymous 23/23 - 3
17-41197779-C-G c.5508G>C p.E1836D Missense 23/23 - 6
17-41197779-C-A c.5508G>T p.E1836D Missense 23/23 - 6
17-41197779-CTC-ATA c.5506_5508delinsTAT p.E1836Y Missense 23/23 - 1
17-41197780-T-G c.5507A>C p.E1836A Missense 23/23 - 5
17-41197780-T-C c.5507A>G p.E1836G Missense 23/23 - 9
17-41197780-T-A c.5507A>T p.E1836V Missense 23/23 - 5
17-41197775-CCCACTCTCGGGTCA-C c.5498_5511del p.V1833Gfs*42 Frameshift 23/23 - 5
17-41197776-CCACTCTCGGGTCACCACAGGTGCCT-C c.5486_5510del p.E1829Gfs*6 Frameshift 23/23 - 2
17-41197781-CTCGGGTCACC-T c.5496_5506delinsA p.V1833Sfs*7 Frameshift 23/23 - 12
17-41197781-C-T c.5506G>A p.E1836K Missense 23/23 - 27
17-41197781-C-G c.5506G>C p.E1836Q Missense 23/23 - 7
17-41197781-C-A c.5506G>T p.E1836* Nonsense 23/23 - 12
17-41197781-TC-T c.5506del p.E1836Sfs*7 Frameshift 23/23 - 2
17-41197781-TCTCG-T c.5503_5506del p.R1835Sfs*7 Frameshift 23/23 - 6
17-41197781-TCTCGGGTCACC-T c.5496_5506del p.T1834Gfs*42 Frameshift 23/23 - 1
17-41197782-T-C c.5505A>G p.R1835= Synonymous 23/23 - 2
17-41197782-T-A c.5505A>T p.R1835= Synonymous 23/23 - 2
17-41197782-T-G c.5505A>C p.R1835= Synonymous 23/23 - 2
17-41197780-TCTCGGGTCAC-T c.5497_5506del p.V1833Sfs*7 Frameshift 23/23 - 5
17-41197778-ACT-A c.5507_5508del p.E1836Vfs*43 Frameshift 23/23 - 2
17-41197782-TCG-CCA c.5503_5505delinsTGG p.R1835W Missense 23/23 - 1
17-41197783-C-T c.5504G>A p.R1835Q Missense 23/23 - 32
17-41197783-C-G c.5504G>C p.R1835P Missense 23/23 - 16
17-41197783-C-A c.5504G>T p.R1835L Missense 23/23 - 4
17-41197784-G-A c.5503C>T p.R1835* Nonsense 23/23 - 78
17-41197784-G-T c.5503C>A p.R1835= Synonymous 23/23 - 2
17-41197784-G-C c.5503C>G p.R1835G Missense 23/23 - 4
17-41197785-G-T c.5502C>A p.T1834= Synonymous 23/23 - 1
17-41197785-G-C c.5502C>G p.T1834= Synonymous 23/23 - 1
17-41197785-G-A c.5502C>T p.T1834= Synonymous 23/23 - 2
17-41197785-GG-CA c.5501_5502delinsTG p.T1834M Missense 23/23 - 1
17-41197786-G-C c.5501C>G p.T1834S Missense 23/23 - 5
17-41197786-G-T c.5501C>A p.T1834N Missense 23/23 - 5
17-41197786-G-A c.5501C>T p.T1834I Missense 23/23 - 13
17-41197786-GT-AG c.5500_5501delinsCT p.T1834L Missense 23/23 - 1
17-41197783-C-CG c.5503dup p.R1835Pfs*45 Frameshift 23/23 - 5
17-41197783-CG-C c.5503del p.R1835Efs*8 Frameshift 23/23 - 3
17-41197787-T-G c.5500A>C p.T1834P Missense 23/23 - 5
17-41197787-T-C c.5500A>G p.T1834A Missense 23/23 - 6
17-41197787-T-A c.5500A>T p.T1834S Missense 23/23 - 5
17-41197788-C-T c.5499G>A p.V1833= Synonymous 23/23 - 1
17-41197788-C-G c.5499G>C p.V1833= Synonymous 23/23 - 1
17-41197788-C-A c.5499G>T p.V1833= Synonymous 23/23 - 1
17-41197788-TCACC-T c.5496_5499del p.V1833Pfs*9 Frameshift 23/23 - 5
17-41197789-A-T c.5498T>A p.V1833E Missense 23/23 - 10
17-41197789-A-G c.5498T>C p.V1833A Missense 23/23 - 9
17-41197789-A-C c.5498T>G p.V1833G Missense 23/23 - 4
17-41197789-AC-GA c.5497_5498delinsTC p.V1833S Missense 23/23 - 1
17-41197790-C-T c.5497G>A p.V1833M Missense 23/23 - 39
17-41197790-C-G c.5497G>C p.V1833L Missense 23/23 - 4
17-41197790-C-CA c.5496_5497insT p.V1833Cfs*47 Frameshift 23/23 - 1
17-41197790-C-A c.5497G>T p.V1833L Missense 23/23 - 3
17-41197790-C-CT c.5496_5497insA p.V1833Sfs*47 Frameshift 23/23 - 2
17-41197791-C-T c.5496G>A p.V1832= Synonymous 23/23 - 2
17-41197789-AC-A c.5497del p.V1833* Frameshift 23/23 - 1
17-41197792-A-G c.5495T>C p.V1832A Missense 23/23 - 5
17-41197792-A-C c.5495T>G p.V1832G Missense 23/23 - 6
17-41197791-C-CAA c.5495_5496insTT p.V1833Wfs*2 Frameshift 23/23 - 4
17-41197792-A-T c.5495T>A p.V1832E Missense 23/23 - 3
17-41197793-C-G c.5494G>C p.V1832L Missense 23/23 - 5
17-41197793-C-A c.5494G>T p.V1832L Missense 23/23 - 3
17-41197793-C-T c.5494G>A p.V1832M Missense 23/23 - 3
17-41197794-A-G c.5493T>C p.P1831= Synonymous 23/23 - 1
17-41197794-A-C c.5493T>G p.P1831= Synonymous 23/23 - 1
17-41197794-A-T c.5493T>A p.P1831= Synonymous 23/23 - 1
17-41197793-C-CAA c.5493_5494insTT p.V1832Lfs*3 Frameshift 23/23 - 5
17-41197795-G-T c.5492C>A p.P1831H Missense 23/23 - 5
17-41197795-G-C c.5492C>G p.P1831R Missense 23/23 - 12
17-41197795-G-A c.5492C>T p.P1831L Missense 23/23 - 12
17-41197796-G-T c.5491C>A p.P1831T Missense 23/23 - 7
17-41197796-G-C c.5491C>G p.P1831A Missense 23/23 - 5
17-41197796-G-A c.5491C>T p.P1831S Missense 23/23 - 5
17-41197794-AG-A c.5492del p.P1831Lfs*3 Frameshift 23/23 - 12
17-41197797-T-G c.5490A>C p.A1830= Synonymous 23/23 - 2
17-41197797-T-C c.5490A>G p.A1830= Synonymous 23/23 - 2
17-41197797-T-A c.5490A>T p.A1830= Synonymous 23/23 - 2
17-41197797-GT-G c.5490del p.P1831Lfs*3 Frameshift 23/23 - 7
17-41197798-G-T c.5489C>A p.A1830E Missense 23/23 - 6
17-41197798-G-C c.5489C>G p.A1830G Missense 23/23 - 4
17-41197798-G-A c.5489C>T p.A1830V Missense 23/23 - 6
17-41197799-C-T c.5488G>A p.A1830T Missense 23/23 - 15
17-41197799-C-G c.5488G>C p.A1830P Missense 23/23 - 5
17-41197799-C-A c.5488G>T p.A1830S Missense 23/23 - 5
17-41197800-C-T c.5487G>A p.E1829= Synonymous 23/23 - 4
17-41197800-C-G c.5487G>C p.E1829D Missense 23/23 - 5
17-41197800-C-A c.5487G>T p.E1829D Missense 23/23 - 5
17-41197801-T-G c.5486A>C p.E1829A Missense 23/23 - 5
17-41197801-T-C c.5486A>G p.E1829G Missense 23/23 - 5
17-41197801-T-A c.5486A>T p.E1829V Missense 23/23 - 5
17-41197802-C-T c.5485G>A p.E1829K Missense 23/23 - 11
17-41197802-C-G c.5485G>C p.E1829Q Missense 23/23 - 5
17-41197802-C-A c.5485G>T p.E1829* Nonsense 23/23 - 3
17-41197801-T-TC c.5485dup p.E1829Gfs*51 Frameshift 23/23 - 7
17-41197802-TC-T c.5485del p.E1829Rfs*5 Frameshift 23/23 - 1
17-41197802-TCAC-T c.5483_5485del p.C1828_E1829delins* MultiAAMissense 23/23 - 2
17-41197803-A-T c.5484T>A p.C1828* Nonsense 23/23 - 3
17-41197803-A-G c.5484T>C p.C1828= Synonymous 23/23 - 2
17-41197803-A-C c.5484T>G p.C1828W Missense 23/23 - 5
17-41197804-C-G c.5483G>C p.C1828S Missense 23/23 - 5
17-41197804-C-T c.5483G>A p.C1828Y Missense 23/23 - 5
17-41197804-C-A c.5483G>T p.C1828F Missense 23/23 - 5
17-41197804-AC-A c.5483del p.C1828Lfs*6 Frameshift 23/23 - 6
17-41197805-A-T c.5482T>A p.C1828S Missense 23/23 - 5
17-41197805-A-G c.5482T>C p.C1828R Missense 23/23 - 4
17-41197805-A-C c.5482T>G p.C1828G Missense 23/23 - 10
17-41197806-C-T c.5481G>A p.M1827I Missense 23/23 - 13
17-41197806-C-G c.5481G>C p.M1827I Missense 23/23 - 6
17-41197806-C-A c.5481G>T p.M1827I Missense 23/23 - 6
17-41197801-TCA-T c.5484_5485del p.C1828* Frameshift 23/23 - 2
17-41197807-A-T c.5480T>A p.M1827K Missense 23/23 - 5
17-41197807-A-G c.5480T>C p.M1827T Missense 23/23 - 6
17-41197807-A-C c.5480T>G p.M1827R Missense 23/23 - 5
17-41197808-T-G c.5479A>C p.M1827L Missense 23/23 - 6
17-41197808-T-A c.5479A>T p.M1827L Missense 23/23 - 6
17-41197808-T-C c.5479A>G p.M1827V Missense 23/23 - 8
17-41197805-ACATCTGCC-A c.5474_5481del p.G1825Vfs*2 Frameshift 23/23 - 5
17-41197809-C-T c.5478G>A p.Q1826= Synonymous 23/23 - 4
17-41197809-C-G c.5478G>C p.Q1826H Missense 23/23 - 12
17-41197809-C-A c.5478G>T p.Q1826H Missense 23/23 - 12
17-41197807-A-ATC c.5478_5479dup p.M1827Rfs*8 Frameshift 23/23 - 1
17-41197810-T-G c.5477A>C p.Q1826P Missense 23/23 - 6
17-41197810-T-C c.5477A>G p.Q1826R Missense 23/23 - 6
17-41197810-T-A c.5477A>T p.Q1826L Missense 23/23 - 15
17-41197811-G-T c.5476C>A p.Q1826K Missense 23/23 - 10
17-41197811-G-C c.5476C>G p.Q1826E Missense 23/23 - 5
17-41197811-G-A c.5476C>T p.Q1826* Nonsense 23/23 - 5
17-41197812-C-T c.5475G>A p.G1825= Synonymous 23/23 - 5
17-41197812-C-G c.5475G>C p.G1825= Synonymous 23/23 - 2
17-41197812-C-A c.5475G>T p.G1825= Synonymous 23/23 - 3
17-41197809-CTGCCCAAT-C c.5470_5477del p.I1824Dfs*3 Frameshift 23/23 22/22 56
17-41197813-C-T c.5474G>A p.G1825E Missense 23/23 - 6
17-41197813-C-G c.5474G>C p.G1825A Missense 23/23 - 5
17-41197813-C-A c.5474G>T p.G1825V Missense 23/23 - 6
17-41197814-C-T c.5473G>A p.G1825R Missense 23/23 - 12
17-41197814-C-G c.5473G>C p.G1825R Missense 23/23 - 6
17-41197814-C-A c.5473G>T p.G1825W Missense 23/23 - 5
17-41197815-A-T c.5472T>A p.I1824= Synonymous 23/23 - 2
17-41197815-A-G c.5472T>C p.I1824= Synonymous 23/23 - 2
17-41197815-A-C c.5472T>G p.I1824M Missense 23/23 - 5
17-41197816-A-T c.5471T>A p.I1824N Missense 23/23 - 6
17-41197816-A-G c.5471T>C p.I1824T Missense 23/23 - 7
17-41197816-A-C c.5471T>G p.I1824S Missense 23/23 - 5
17-41197816-AT-TC c.5470_5471delinsGA p.I1824D Missense 23/23 - 2
17-41197817-T-G c.5470A>C p.I1824L Missense 23/23 - 5
17-41197817-T-C c.5470A>G p.I1824V Missense 23/23 - 13
17-41197817-T-A c.5470A>T p.I1824F Missense 23/23 - 5
17-41197817-T-TC c.5469_5470insG p.I1824Dfs*6 SpliceAcceptorInsertion 23/23 - 4
17-41197817-T-TA c.5469_5470insT p.I1824Yfs*6 SpliceAcceptorInsertion 23/23 - 2
17-41197817-T-TG c.5469_5470insC p.I1824Hfs*6 SpliceAcceptorInsertion 23/23 - 2
17-41197818-T-G c.5469A>C p.A1823= Synonymous 23/23 - 2
17-41197818-T-C c.5469A>G p.A1823= Synonymous 23/23 - 2
17-41197818-T-A c.5469A>T p.A1823= Synonymous 23/23 - 2
17-41197819-G-T c.5468C>A p.A1823E Missense 23/23 - 4
17-41197819-G-C c.5468C>G p.A1823G Missense 23/23 - 4
17-41197819-G-A c.5468C>T p.A1823V Missense 23/23 - 7
17-41197820-C-A c.5468-1G>T - IntronicSNV - 22/22 5
17-41197820-C-T c.5468-1G>A - IntronicSNV - 22/22 5
17-41197821-T-A c.5468-2A>T - IntronicSNV - 22/22 2
17-41197821-T-C c.5468-2A>G - IntronicSNV - 22/22 2
17-41197823-G-A c.5468-4C>T - IntronicSNV - 22/22 1
17-41197824-A-C c.5468-5T>G - IntronicSNV - 22/22 1
17-41197829-G-A c.5468-10C>T - IntronicSNV - 22/22 4
17-41197829-G-T c.5468-10C>A - IntronicSNV - 22/22 4
17-41197836-C-T c.5468-17G>A - IntronicSNV - 22/22 2
17-41197837-A-T c.5468-18T>A - IntronicSNV - 22/22 1
17-41197839-G-A c.5468-20C>T - IntronicSNV - 22/22 1
17-41197859-A-T c.5468-40T>A - IntronicSNV - 22/22 1
17-41198270-G-A c.5468-451C>T - IntronicSNV - 22/22 1
17-41198270-G-T c.5468-451C>A - IntronicSNV - 22/22 1
17-41198621-A-G c.5468-802T>C - IntronicSNV - 22/22 2
17-41199123-T-C c.5467+537A>G - IntronicSNV - 22/22 2
17-41199178-G-A c.5467+482C>T - IntronicSNV - 22/22 1
17-41199580-C-T c.5467+80G>A - IntronicSNV - 22/22 1
17-41199602-A-G c.5467+58T>C - IntronicSNV - 22/22 1
17-41199603-T-C c.5467+57A>G - IntronicSNV - 22/22 1
17-41199613-C-T c.5467+47G>A - IntronicSNV - 22/22 1
17-41199616-T-C c.5467+44A>G - IntronicSNV - 22/22 1
17-41199635-G-C c.5467+25C>G - IntronicSNV - 22/22 1
17-41199635-G-A c.5467+25C>T - IntronicSNV - 22/22 1
17-41199635-G-T c.5467+25C>A - IntronicSNV - 22/22 1
17-41199636-C-T c.5467+24G>A - IntronicSNV - 22/22 1
17-41199636-C-G c.5467+24G>C - IntronicSNV - 22/22 1
17-41199636-C-A c.5467+24G>T - IntronicSNV - 22/22 1
17-41199637-A-T c.5467+23T>A - IntronicSNV - 22/22 1
17-41199637-A-G c.5467+23T>C - IntronicSNV - 22/22 1
17-41199637-A-C c.5467+23T>G - IntronicSNV - 22/22 1
17-41199638-C-T c.5467+22G>A - IntronicSNV - 22/22 1
17-41199638-C-G c.5467+22G>C - IntronicSNV - 22/22 2
17-41199638-C-A c.5467+22G>T - IntronicSNV - 22/22 1
17-41199639-A-T c.5467+21T>A - IntronicSNV - 22/22 1
17-41199639-A-G c.5467+21T>C - IntronicSNV - 22/22 1
17-41199639-A-C c.5467+21T>G - IntronicSNV - 22/22 1
17-41199638-C-CA c.5467+21dup - IntronicInsertion - 22/22 1
17-41199640-G-T c.5467+20C>A - IntronicSNV - 22/22 1
17-41199640-G-C c.5467+20C>G - IntronicSNV - 22/22 1
17-41199640-G-A c.5467+20C>T - IntronicSNV - 22/22 1
17-41199641-G-T c.5467+19C>A - IntronicSNV - 22/22 1
17-41199641-G-C c.5467+19C>G - IntronicSNV - 22/22 1
17-41199641-G-A c.5467+19C>T - IntronicSNV - 22/22 1
17-41199642-T-G c.5467+18A>C - IntronicSNV - 22/22 1
17-41199642-T-C c.5467+18A>G - IntronicSNV - 22/22 1
17-41199642-T-A c.5467+18A>T - IntronicSNV - 22/22 1
17-41199643-A-T c.5467+17T>A - IntronicSNV - 22/22 2
17-41199643-A-G c.5467+17T>C - IntronicSNV - 22/22 1
17-41199643-A-C c.5467+17T>G - IntronicSNV - 22/22 1
17-41199644-C-T c.5467+16G>A - IntronicSNV - 22/22 1
17-41199644-C-G c.5467+16G>C - IntronicSNV - 22/22 1
17-41199644-C-A c.5467+16G>T - IntronicSNV - 22/22 1
17-41199645-A-T c.5467+15T>A - IntronicSNV - 22/22 1
17-41199645-A-G c.5467+15T>C - IntronicSNV - 22/22 1
17-41199645-A-C c.5467+15T>G - IntronicSNV - 22/22 1
17-41199646-T-G c.5467+14A>C - IntronicSNV - 22/22 1
17-41199646-T-C c.5467+14A>G - IntronicSNV - 22/22 2
17-41199646-T-A c.5467+14A>T - IntronicSNV - 22/22 1
17-41199647-G-T c.5467+13C>A - IntronicSNV - 22/22 1
17-41199647-G-C c.5467+13C>G - IntronicSNV - 22/22 1
17-41199647-G-A c.5467+13C>T - IntronicSNV - 22/22 1
17-41199648-C-T c.5467+12G>A - IntronicSNV - 22/22 1
17-41199648-C-G c.5467+12G>C - IntronicSNV - 22/22 1
17-41199648-C-A c.5467+12G>T - IntronicSNV - 22/22 1
17-41199649-A-T c.5467+11T>A - IntronicSNV - 22/22 1
17-41199649-A-G c.5467+11T>C - IntronicSNV - 22/22 1
17-41199649-A-C c.5467+11T>G - IntronicSNV - 22/22 1
17-41199650-G-T c.5467+10C>A - IntronicSNV - 22/22 1
17-41199650-G-C c.5467+10C>G - IntronicSNV - 22/22 1
17-41199650-G-A c.5467+10C>T - IntronicSNV - 22/22 1
17-41199651-G-T c.5467+9C>A - IntronicSNV - 22/22 3
17-41199651-G-C c.5467+9C>G - IntronicSNV - 22/22 1
17-41199651-G-A c.5467+9C>T - IntronicSNV - 22/22 1
17-41199652-C-T c.5467+8G>A - IntronicSNV - 22/22 4
17-41199652-C-G c.5467+8G>C - IntronicSNV - 22/22 1
17-41199652-C-A c.5467+8G>T - IntronicSNV - 22/22 1
17-41199653-A-T c.5467+7T>A - IntronicSNV - 22/22 1
17-41199653-A-G c.5467+7T>C - IntronicSNV - 22/22 1
17-41199653-A-C c.5467+7T>G - IntronicSNV - 22/22 2
17-41199654-C-T c.5467+6G>A - IntronicSNV - 22/22 1
17-41199654-C-G c.5467+6G>C - IntronicSNV - 22/22 1
17-41199654-C-A c.5467+6G>T - IntronicSNV - 22/22 1
17-41199655-C-T c.5467+5G>A - IntronicSNV - 22/22 1
17-41199655-C-G c.5467+5G>C - IntronicSNV - 22/22 10
17-41199655-C-A c.5467+5G>T - IntronicSNV - 22/22 4
17-41199656-T-G c.5467+4A>C - IntronicSNV - 22/22 1
17-41199656-T-C c.5467+4A>G - IntronicSNV - 22/22 2
17-41199656-T-A c.5467+4A>T - IntronicSNV - 22/22 1
17-41199657-T-G c.5467+3A>C - IntronicSNV - 22/22 2
17-41199657-T-C c.5467+3A>G - IntronicSNV - 22/22 1
17-41199657-T-A c.5467+3A>T - IntronicSNV - 22/22 1
17-41199658-A-T c.5467+2T>A - IntronicSNV - 22/22 1
17-41199658-A-G c.5467+2T>C - IntronicSNV - 22/22 11
17-41199658-A-C c.5467+2T>G - IntronicSNV - 22/22 5
17-41199659-C-T c.5467+1G>A - IntronicSNV - 22/22 33
17-41199659-C-G c.5467+1G>C - IntronicSNV - 22/22 1
17-41199659-C-A c.5467+1G>T - IntronicSNV - 22/22 1
17-41199659-C-CA c.5467_5467+1insT p.A1823Vfs*7 SpliceDonorInsertion - - 1
17-41199660-C-T c.5467G>A p.A1823T Missense 22/23 - 27
17-41199660-C-G c.5467G>C p.A1823P Missense 22/23 - 4
17-41199660-C-A c.5467G>T p.A1823S Missense 22/23 - 5
17-41199660-C-CT c.5466_5467insA p.A1823Sfs*7 SpliceDonorInsertion 22/23 - 1
17-41199660-C-CG c.5466_5467insC p.A1823Rfs*7 SpliceDonorInsertion 22/23 - 1
17-41199658-AC-A c.5467+1del - IntronicDeletion 22/23 - 2
17-41199661-A-T c.5466T>A p.H1822Q Missense 22/23 - 4
17-41199661-A-C c.5466T>G p.H1822Q Missense 22/23 - 4
17-41199661-A-G c.5466T>C p.H1822= Synonymous 22/23 - 3
17-41199659-CCATGGAAGCCATTGTCCTCTGTCCAGGCATCTGGCTGCACAACCACAATTGGGTGGACA-C c.5409_5467del p.V1804Nfs*6 Unclassified 22/23 - 1
17-41199661-CATG-C c.5464_5466del p.H1822del InFrameDeletion 22/23 - 2
17-41199660-C-CA c.5466dup p.A1823Cfs*7 SpliceDonorInsertion 22/23 - 5
17-41199662-T-A c.5465A>T p.H1822L Missense 22/23 - 7
17-41199662-T-G c.5465A>C p.H1822P Missense 22/23 - 5
17-41199662-T-C c.5465A>G p.H1822R Missense 22/23 - 6
17-41199662-T-TA c.5464_5465insT p.H1822Lfs*8 Frameshift 22/23 - 5
17-41199662-TG-CT c.5464_5465delinsAG p.H1822S Missense 22/23 - 1
17-41199663-G-T c.5464C>A p.H1822N Missense 22/23 - 8
17-41199663-G-C c.5464C>G p.H1822D Missense 22/23 - 5
17-41199663-G-A c.5464C>T p.H1822Y Missense 22/23 - 5
17-41199663-G-GA c.5463_5464insT p.H1822Sfs*8 Frameshift 22/23 - 7
17-41199664-G-T c.5463C>A p.F1821L Missense 22/23 - 6
17-41199664-G-C c.5463C>G p.F1821L Missense 22/23 - 6
17-41199664-G-A c.5463C>T p.F1821= Synonymous 22/23 - 4
17-41199662-T-TG c.5464dup p.H1822Pfs*8 Frameshift 22/23 - 1
17-41199665-A-T c.5462T>A p.F1821Y Missense 22/23 - 5
17-41199665-A-G c.5462T>C p.F1821S Missense 22/23 - 7
17-41199665-A-C c.5462T>G p.F1821C Missense 22/23 - 5
17-41199666-A-T c.5461T>A p.F1821I Missense 22/23 - 5
17-41199666-A-G c.5461T>C p.F1821L Missense 22/23 - 6
17-41199666-A-C c.5461T>G p.F1821V Missense 22/23 - 5
17-41199667-G-T c.5460C>A p.G1820= Synonymous 22/23 - 2
17-41199667-G-C c.5460C>G p.G1820= Synonymous 22/23 - 2
17-41199667-G-A c.5460C>T p.G1820= Synonymous 22/23 - 2
17-41199668-C-T c.5459G>A p.G1820D Missense 22/23 - 5
17-41199668-C-G c.5459G>C p.G1820A Missense 22/23 - 4
17-41199668-C-A c.5459G>T p.G1820V Missense 22/23 - 5
17-41199669-C-T c.5458G>A p.G1820S Missense 22/23 - 14
17-41199669-C-G c.5458G>C p.G1820R Missense 22/23 - 5
17-41199669-C-A c.5458G>T p.G1820C Missense 22/23 - 5
17-41199670-A-T c.5457T>A p.N1819K Missense 22/23 - 5
17-41199670-A-C c.5457T>G p.N1819K Missense 22/23 - 5
17-41199670-A-G c.5457T>C p.N1819= Synonymous 22/23 - 2
17-41199671-T-G c.5456A>C p.N1819T Missense 22/23 - 5
17-41199671-T-C c.5456A>G p.N1819S Missense 22/23 - 21
17-41199671-T-A c.5456A>T p.N1819I Missense 22/23 - 5
17-41199672-T-G c.5455A>C p.N1819H Missense 22/23 - 5
17-41199672-T-C c.5455A>G p.N1819D Missense 22/23 - 6
17-41199672-T-A c.5455A>T p.N1819Y Missense 22/23 - 6
17-41199673-G-T c.5454C>A p.D1818E Missense 22/23 - 5
17-41199673-G-C c.5454C>G p.D1818E Missense 22/23 - 5
17-41199673-G-A c.5454C>T p.D1818= Synonymous 22/23 - 3
17-41199673-TG-T c.5454del p.D1818Efs*16 Frameshift 22/23 - 2
17-41199674-T-G c.5453A>C p.D1818A Missense 22/23 - 5
17-41199674-T-C c.5453A>G p.D1818G Missense 22/23 - 31
17-41199674-T-A c.5453A>T p.D1818V Missense 22/23 - 5
17-41199675-C-T c.5452G>A p.D1818N Missense 22/23 - 10
17-41199675-C-G c.5452G>C p.D1818H Missense 22/23 - 5
17-41199675-C-A c.5452G>T p.D1818Y Missense 22/23 - 5
17-41199676-C-T c.5451G>A p.E1817= Synonymous 22/23 - 4
17-41199676-C-G c.5451G>C p.E1817D Missense 22/23 - 5
17-41199676-C-A c.5451G>T p.E1817D Missense 22/23 - 5
17-41199677-T-G c.5450A>C p.E1817A Missense 22/23 - 5
17-41199677-T-C c.5450A>G p.E1817G Missense 22/23 - 6
17-41199677-T-A c.5450A>T p.E1817V Missense 22/23 - 6
17-41199678-C-T c.5449G>A p.E1817K Missense 22/23 - 6
17-41199678-C-G c.5449G>C p.E1817Q Missense 22/23 - 5
17-41199678-C-A c.5449G>T p.E1817* Nonsense 22/23 - 12
17-41199675-CCT-C c.5450_5451del p.E1817Gfs*12 Frameshift 22/23 - 4
17-41199679-T-G c.5448A>C p.T1816= Synonymous 22/23 - 1
17-41199679-T-C c.5448A>G p.T1816= Synonymous 22/23 - 3
17-41199679-T-A c.5448A>T p.T1816= Synonymous 22/23 - 2
17-41199680-G-T c.5447C>A p.T1816K Missense 22/23 - 8
17-41199680-G-C c.5447C>G p.T1816R Missense 22/23 - 8
17-41199680-G-A c.5447C>T p.T1816I Missense 22/23 - 5
17-41199681-T-G c.5446A>C p.T1816P Missense 22/23 - 5
17-41199681-T-C c.5446A>G p.T1816A Missense 22/23 - 5
17-41199681-T-A c.5446A>T p.T1816S Missense 22/23 - 5
17-41199682-C-G c.5445G>C p.W1815C Missense 22/23 - 6
17-41199682-C-A c.5445G>T p.W1815C Missense 22/23 - 5
17-41199682-C-T c.5445G>A p.W1815* Nonsense 22/23 - 47
17-41199683-C-T c.5444G>A p.W1815* Nonsense 22/23 - 52
17-41199683-C-G c.5444G>C p.W1815S Missense 22/23 - 9
17-41199683-C-A c.5444G>T p.W1815L Missense 22/23 - 5
17-41199683-CA-TT c.5443_5444delinsAA p.W1815K Missense 22/23 - 1
17-41199684-A-T c.5443T>A p.W1815R Missense 22/23 - 5
17-41199684-A-G c.5443T>C p.W1815R Missense 22/23 - 7
17-41199684-A-C c.5443T>G p.W1815G Missense 22/23 - 5
17-41199685-G-T c.5442C>A p.A1814= Synonymous 22/23 - 3
17-41199685-G-C c.5442C>G p.A1814= Synonymous 22/23 - 3
17-41199685-G-A c.5442C>T p.A1814= Synonymous 22/23 - 3
17-41199686-G-T c.5441C>A p.A1814D Missense 22/23 - 6
17-41199686-G-C c.5441C>G p.A1814G Missense 22/23 - 5
17-41199686-G-A c.5441C>T p.A1814V Missense 22/23 - 8
17-41199687-C-T c.5440G>A p.A1814T Missense 22/23 - 6
17-41199687-C-G c.5440G>C p.A1814P Missense 22/23 - 4
17-41199687-C-A c.5440G>T p.A1814S Missense 22/23 - 5
17-41199686-G-GC c.5440dup p.A1814Gfs*16 Frameshift 22/23 - 4
17-41199687-GC-G c.5440del p.A1814Pfs*20 Frameshift 22/23 - 3
17-41199688-A-T c.5439T>A p.D1813E Missense 22/23 - 5
17-41199688-A-C c.5439T>G p.D1813E Missense 22/23 - 5
17-41199688-A-G c.5439T>C p.D1813= Synonymous 22/23 - 3
17-41199688-CA-C c.5439del p.D1813Efs*21 Frameshift 22/23 - 3
17-41199689-T-G c.5438A>C p.D1813A Missense 22/23 - 6
17-41199689-T-C c.5438A>G p.D1813G Missense 22/23 - 7
17-41199689-T-A c.5438A>T p.D1813V Missense 22/23 - 8
17-41199689-T-TG c.5437_5438insC p.D1813Afs*17 Frameshift 22/23 - 1
17-41199689-ATCTGGCTGC-A c.5430_5438del p.Q1811_D1813del InFrameDeletion 22/23 - 1
17-41199690-C-G c.5437G>C p.D1813H Missense 22/23 - 10
17-41199690-C-T c.5437G>A p.D1813N Missense 22/23 - 7
17-41199690-C-A c.5437G>T p.D1813Y Missense 22/23 - 8
17-41199691-T-G c.5436A>C p.P1812= Synonymous 22/23 - 3
17-41199691-T-C c.5436A>G p.P1812= Synonymous 22/23 - 4
17-41199691-T-A c.5436A>T p.P1812= Synonymous 22/23 - 3
17-41199692-G-C c.5435C>G p.P1812R Missense 22/23 - 10
17-41199692-G-T c.5435C>A p.P1812Q Missense 22/23 - 4
17-41199692-G-A c.5435C>T p.P1812L Missense 22/23 - 5
17-41199693-G-C c.5434C>G p.P1812A Missense 22/23 - 51
17-41199693-G-T c.5434C>A p.P1812T Missense 22/23 - 8
17-41199693-G-A c.5434C>T p.P1812S Missense 22/23 - 10
17-41199694-C-T c.5433G>A p.Q1811= Synonymous 22/23 - 4
17-41199694-C-G c.5433G>C p.Q1811H Missense 22/23 - 11
17-41199694-C-A c.5433G>T p.Q1811H Missense 22/23 - 5
17-41199695-T-A c.5432A>T p.Q1811L Missense 22/23 - 16
17-41199695-T-G c.5432A>C p.Q1811P Missense 22/23 - 5
17-41199695-T-C c.5432A>G p.Q1811R Missense 22/23 - 19
17-41199695-TG-GT c.5431_5432delinsAC p.Q1811T Missense 22/23 - 2
17-41199693-GCTGCACAAC-G c.5425_5433del p.V1809_Q1811del InFrameDeletion 22/23 - 1
17-41199696-G-A c.5431C>T p.Q1811* Nonsense 22/23 - 22
17-41199696-G-T c.5431C>A p.Q1811K Missense 22/23 - 8
17-41199696-G-C c.5431C>G p.Q1811E Missense 22/23 - 5
17-41199696-G-GTC c.5430_5431insGA p.Q1811Dfs*24 Frameshift 22/23 - 4
17-41199697-C-T c.5430G>A p.V1810= Synonymous 22/23 - 5
17-41199697-C-G c.5430G>C p.V1810= Synonymous 22/23 - 3
17-41199697-C-A c.5430G>T p.V1810= Synonymous 22/23 - 3
17-41199697-GCAC-G c.5428_5430del p.V1810del InFrameDeletion 22/23 - 1
17-41199696-G-GCT c.5430_5431insAG p.Q1811Sfs*24 Frameshift 22/23 - 3
17-41199697-CAC-ACA c.5428_5430delinsTGT p.V1810C Missense 22/23 - 1
17-41199698-A-C c.5429T>G p.V1810G Missense 22/23 - 16
17-41199698-A-T c.5429T>A p.V1810E Missense 22/23 - 5
17-41199698-A-G c.5429T>C p.V1810A Missense 22/23 - 13
17-41199699-C-T c.5428G>A p.V1810M Missense 22/23 - 7
17-41199699-C-G c.5428G>C p.V1810L Missense 22/23 - 4
17-41199699-C-A c.5428G>T p.V1810L Missense 22/23 - 5
17-41199700-A-T c.5427T>A p.V1809= Synonymous 22/23 - 2
17-41199700-A-G c.5427T>C p.V1809= Synonymous 22/23 - 2
17-41199700-A-C c.5427T>G p.V1809= Synonymous 22/23 - 2
17-41199697-CACA-C c.5427_5429del p.V1810del InFrameDeletion 22/23 - 1
17-41199700-CAA-C c.5426_5427del p.V1809Gfs*20 Frameshift 22/23 - 1
17-41199701-A-G c.5426T>C p.V1809A Missense 22/23 - 14
17-41199701-A-T c.5426T>A p.V1809D Missense 22/23 - 7
17-41199701-AAC-A c.5425_5426del p.V1809Cfs*20 Frameshift 22/23 - 1
17-41199699-C-CA c.5427dup p.V1810Cfs*20 Frameshift 22/23 - 4
17-41199701-A-C c.5426T>G p.V1809G Missense 22/23 - 4
17-41199701-AC-CT c.5425_5426delinsAG p.V1809S Missense 22/23 - 1
17-41199699-CA-C c.5427del p.V1810Cfs*24 Frameshift 22/23 - 1
17-41199702-C-T c.5425G>A p.V1809I Missense 22/23 - 11
17-41199702-C-A c.5425G>T p.V1809F Missense 22/23 - 27
17-41199696-GCACAAC-G c.5425_5430del p.V1809_V1810del InFrameDeletion 22/23 - 6
17-41199702-C-G c.5425G>C p.V1809L Missense 22/23 - 3
17-41199703-C-A c.5424G>T p.V1808= Synonymous 22/23 - 1
17-41199703-C-G c.5424G>C p.V1808= Synonymous 22/23 - 1
17-41199703-C-T c.5424G>A p.V1808= Synonymous 22/23 - 1
17-41199704-A-G c.5423T>C p.V1808A Missense 22/23 - 12
17-41199704-A-C c.5423T>G p.V1808G Missense 22/23 - 9
17-41199704-A-T c.5423T>A p.V1808E Missense 22/23 - 7
17-41199704-CA-C c.5423del p.V1808Gfs*26 Frameshift 22/23 - 1
17-41199705-C-G c.5422G>C p.V1808L Missense 22/23 - 5
17-41199705-C-T c.5422G>A p.V1808M Missense 22/23 - 4
17-41199705-C-A c.5422G>T p.V1808L Missense 22/23 - 6
17-41199706-A-G c.5421T>C p.I1807= Synonymous 22/23 - 2
17-41199706-A-T c.5421T>A p.I1807= Synonymous 22/23 - 2
17-41199706-A-C c.5421T>G p.I1807M Missense 22/23 - 6
17-41199707-A-T c.5420T>A p.I1807N Missense 22/23 - 5
17-41199707-A-G c.5420T>C p.I1807T Missense 22/23 - 7
17-41199707-A-C c.5420T>G p.I1807S Missense 22/23 - 8
17-41199708-T-G c.5419A>C p.I1807L Missense 22/23 - 5
17-41199708-T-C c.5419A>G p.I1807V Missense 22/23 - 16
17-41199708-T-A c.5419A>T p.I1807F Missense 22/23 - 5
17-41199709-T-G c.5418A>C p.P1806= Synonymous 22/23 - 2
17-41199709-T-C c.5418A>G p.P1806= Synonymous 22/23 - 2
17-41199709-T-A c.5418A>T p.P1806= Synonymous 22/23 - 2
17-41199707-AT-A c.5419del p.I1807Lfs*27 Frameshift 22/23 - 11
17-41199707-A-AT c.5419dup p.I1807Nfs*23 Frameshift 22/23 - 4
17-41199707-ATTGGG-A c.5415_5419del p.P1806Cfs*22 Frameshift 22/23 - 1
17-41199710-G-T c.5417C>A p.P1806Q Missense 22/23 - 5
17-41199710-G-C c.5417C>G p.P1806R Missense 22/23 - 5
17-41199710-G-A c.5417C>T p.P1806L Missense 22/23 - 5
17-41199711-G-C c.5416C>G p.P1806A Missense 22/23 - 21
17-41199711-G-T c.5416C>A p.P1806T Missense 22/23 - 5
17-41199711-G-A c.5416C>T p.P1806S Missense 22/23 - 7
17-41199712-G-T c.5415C>A p.H1805Q Missense 22/23 - 5
17-41199712-G-C c.5415C>G p.H1805Q Missense 22/23 - 5
17-41199712-G-A c.5415C>T p.H1805= Synonymous 22/23 - 5
17-41199709-TG-T c.5417del p.P1806Qfs*28 Frameshift 22/23 - 7
17-41199713-T-G c.5414A>C p.H1805P Missense 22/23 - 7
17-41199713-T-C c.5414A>G p.H1805R Missense 22/23 - 5
17-41199713-T-A c.5414A>T p.H1805L Missense 22/23 - 8
17-41199713-GTGGACACC-G c.5407_5414del p.G1803Pfs*24 SpliceAcceptorDeletion 22/23 - 2
17-41199714-G-T c.5413C>A p.H1805N Missense 22/23 - 5
17-41199714-G-C c.5413C>G p.H1805D Missense 22/23 - 5
17-41199714-G-A c.5413C>T p.H1805Y Missense 22/23 - 10
17-41199715-G-T c.5412C>A p.V1804= Synonymous 22/23 - 2
17-41199715-G-C c.5412C>G p.V1804= Synonymous 22/23 - 2
17-41199715-G-A c.5412C>T p.V1804= Synonymous 22/23 - 5
17-41199716-A-T c.5411T>A p.V1804D Missense 22/23 - 46
17-41199716-A-G c.5411T>C p.V1804A Missense 22/23 - 8
17-41199716-A-C c.5411T>G p.V1804G Missense 22/23 - 5
17-41199717-C-T c.5410G>A p.V1804I Missense 22/23 - 6
17-41199717-C-G c.5410G>C p.V1804L Missense 22/23 - 4
17-41199717-C-A c.5410G>T p.V1804F Missense 22/23 - 5
17-41199717-AC-A c.5410del p.V1804Sfs*30 Frameshift 22/23 - 1
17-41199718-A-C c.5409T>G p.G1803= Synonymous 22/23 - 2
17-41199718-A-T c.5409T>A p.G1803= Synonymous 22/23 - 2
17-41199718-A-G c.5409T>C p.G1803= Synonymous 22/23 - 2
17-41199719-C-T c.5408G>A p.G1803D Missense 22/23 - 4
17-41199719-C-G c.5408G>C p.G1803A Missense 22/23 - 20
17-41199719-C-A c.5408G>T p.G1803V Missense 22/23 - 10
17-41199720-C-T c.5407G>A p.G1803S Missense 22/23 - 11
17-41199720-C-G c.5407G>C p.G1803R Missense 22/23 - 5
17-41199720-C-A c.5407G>T p.G1803C Missense 22/23 - 10
17-41199721-C-G c.5407-1G>C - IntronicSNV - 21/22 3
17-41199721-C-T c.5407-1G>A - IntronicSNV - 21/22 3
17-41199722-T-A c.5407-2A>T - IntronicSNV - 21/22 1
17-41199722-T-C c.5407-2A>G - IntronicSNV - 21/22 1
17-41199724-G-C c.5407-4C>G - IntronicSNV - 21/22 1
17-41199729-C-G c.5407-9G>C - IntronicSNV - 21/22 1
17-41199729-C-T c.5407-9G>A - IntronicSNV - 21/22 1
17-41199730-C-T c.5407-10G>A - IntronicSNV - 21/22 2
17-41199745-A-T c.5407-25T>A - IntronicSNV - 21/22 1
17-41199913-T-C c.5407-193A>G - IntronicSNV - 21/22 4
17-41200107-C-T c.5407-387G>A - IntronicSNV - 21/22 1
17-41200109-T-C c.5407-389A>G - IntronicSNV - 21/22 2
17-41200276-G-A c.5407-556C>T - IntronicSNV - 21/22 1
17-41200305-C-T c.5407-585G>A - IntronicSNV - 21/22 1
17-41200537-T-C c.5406+601A>G - IntronicSNV - 21/22 1
17-41201070-A-G c.5406+68T>C - IntronicSNV - 21/22 5
17-41201076-C-T c.5406+62G>A - IntronicSNV - 21/22 1
17-41201084-C-T c.5406+54G>A - IntronicSNV - 21/22 1
17-41201093-G-T c.5406+45C>A - IntronicSNV - 21/22 1
17-41201105-T-A c.5406+33A>T - IntronicSNV - 21/22 9
17-41201107-C-CT c.5406+30dup - IntronicInsertion - 21/22 1
17-41201110-CCTCT-C c.5406+24_5406+27del - IntronicDeletion - 21/22 1
17-41201120-A-T c.5406+18T>A - IntronicSNV - 21/22 1
17-41201120-A-G c.5406+18T>C - IntronicSNV - 21/22 1
17-41201120-A-C c.5406+18T>G - IntronicSNV - 21/22 1
17-41201121-G-T c.5406+17C>A - IntronicSNV - 21/22 1
17-41201121-G-C c.5406+17C>G - IntronicSNV - 21/22 1
17-41201121-G-A c.5406+17C>T - IntronicSNV - 21/22 2
17-41201122-G-T c.5406+16C>A - IntronicSNV - 21/22 1
17-41201122-G-C c.5406+16C>G - IntronicSNV - 21/22 1
17-41201122-G-A c.5406+16C>T - IntronicSNV - 21/22 1
17-41201123-G-T c.5406+15C>A - IntronicSNV - 21/22 1
17-41201123-G-C c.5406+15C>G - IntronicSNV - 21/22 1
17-41201124-C-T c.5406+14G>A - IntronicSNV - 21/22 1
17-41201124-C-G c.5406+14G>C - IntronicSNV - 21/22 1
17-41201124-C-A c.5406+14G>T - IntronicSNV - 21/22 1
17-41201125-A-T c.5406+13T>A - IntronicSNV - 21/22 1
17-41201125-A-G c.5406+13T>C - IntronicSNV - 21/22 1
17-41201125-A-C c.5406+13T>G - IntronicSNV - 21/22 1
17-41201126-C-T c.5406+12G>A - IntronicSNV - 21/22 1
17-41201126-C-G c.5406+12G>C - IntronicSNV - 21/22 1
17-41201126-C-A c.5406+12G>T - IntronicSNV - 21/22 1
17-41201127-C-T c.5406+11G>A - IntronicSNV - 21/22 1
17-41201127-C-G c.5406+11G>C - IntronicSNV - 21/22 1
17-41201128-C-T c.5406+10G>A - IntronicSNV - 21/22 1
17-41201128-C-G c.5406+10G>C - IntronicSNV - 21/22 1
17-41201129-A-T c.5406+9T>A - IntronicSNV - 21/22 1
17-41201129-A-G c.5406+9T>C - IntronicSNV - 21/22 4
17-41201129-A-C c.5406+9T>G - IntronicSNV - 21/22 1
17-41201130-A-T c.5406+8T>A - IntronicSNV - 21/22 1
17-41201130-A-G c.5406+8T>C - IntronicSNV - 21/22 15
17-41201130-A-C c.5406+8T>G - IntronicSNV - 21/22 1
17-41201131-T-G c.5406+7A>C - IntronicSNV - 21/22 1
17-41201131-T-C c.5406+7A>G - IntronicSNV - 21/22 5
17-41201131-T-A c.5406+7A>T - IntronicSNV - 21/22 1
17-41201132-A-T c.5406+6T>A - IntronicSNV - 21/22 2
17-41201132-A-G c.5406+6T>C - IntronicSNV - 21/22 2
17-41201132-A-C c.5406+6T>G - IntronicSNV - 21/22 1
17-41201133-C-T c.5406+5G>A - IntronicSNV - 21/22 9
17-41201133-C-G c.5406+5G>C - IntronicSNV - 21/22 9
17-41201133-C-A c.5406+5G>T - IntronicSNV - 21/22 9
17-41201134-T-G c.5406+4A>C - IntronicSNV - 21/22 1
17-41201134-T-C c.5406+4A>G - IntronicSNV - 21/22 6
17-41201134-T-A c.5406+4A>T - IntronicSNV - 21/22 1
17-41201135-T-G c.5406+3A>C - IntronicSNV - 21/22 1
17-41201135-T-C c.5406+3A>G - IntronicSNV - 21/22 1
17-41201135-T-A c.5406+3A>T - IntronicSNV - 21/22 6
17-41201130-ATACT-A c.5406+4_5406+7del - IntronicDeletion 21/23 21/22 1
17-41201136-A-T c.5406+2T>A - IntronicSNV - 21/22 1
17-41201136-A-G c.5406+2T>C - IntronicSNV - 21/22 3
17-41201136-A-C c.5406+2T>G - IntronicSNV - 21/22 2
17-41201136-TA-T c.5406+2del - IntronicDeletion - 21/22 6
17-41201134-TTAC-T c.5406+1_5406+3del - SpliceDonorDeletion 21/23 21/22 11
17-41201137-C-T c.5406+1G>A - IntronicSNV - 21/22 15
17-41201137-C-G c.5406+1G>C - IntronicSNV - 21/22 1
17-41201137-C-A c.5406+1G>T - IntronicSNV - 21/22 2
17-41201137-ACTGT-A c.5404_5406+1del - SpliceDonorDeletion 21/23 21/22 2
17-41201138-T-G c.5406A>C p.T1802= Synonymous 21/23 - 3
17-41201138-T-C c.5406A>G p.T1802= Synonymous 21/23 - 2
17-41201138-T-A c.5406A>T p.T1802= Synonymous 21/23 - 2
17-41201138-CTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCA-C c.5348_5406del p.M1783Rfs*27 InFrameDeletion 21/23 - 6
17-41201137-C-CT c.5406dup p.G1803Rfs*27 SpliceDonorInsertion 21/23 - 1
17-41201138-CTGT-C c.5404_5406del p.T1802del InFrameDeletion 21/23 - 1
17-41201139-G-T c.5405C>A p.T1802K Missense 21/23 - 4
17-41201139-G-C c.5405C>G p.T1802R Missense 21/23 - 4
17-41201139-G-A c.5405C>T p.T1802I Missense 21/23 - 5
17-41201140-T-G c.5404A>C p.T1802P Missense 21/23 - 10
17-41201140-T-C c.5404A>G p.T1802A Missense 21/23 - 5
17-41201140-T-A c.5404A>T p.T1802S Missense 21/23 - 5
17-41201137-CTG-C c.5405_5406del p.T1802Rfs*27 SpliceDonorDeletion 21/23 - 1
17-41201140-GT-G c.5404del p.T1802Qfs*32 Frameshift 21/23 - 2
17-41201141-G-T c.5403C>A p.G1801= Synonymous 21/23 - 1
17-41201141-G-C c.5403C>G p.G1801= Synonymous 21/23 - 1
17-41201141-G-A c.5403C>T p.G1801= Synonymous 21/23 - 1
17-41201142-C-A c.5402G>T p.G1801V Missense 21/23 - 5
17-41201142-C-T c.5402G>A p.G1801D Missense 21/23 - 17
17-41201142-C-G c.5402G>C p.G1801A Missense 21/23 - 6
17-41201140-TGCCAAGG-T c.5397_5403del p.L1800Qfs*32 Frameshift 21/23 - 1
17-41201143-C-T c.5401G>A p.G1801S Missense 21/23 - 10
17-41201143-C-G c.5401G>C p.G1801R Missense 21/23 - 5
17-41201143-C-A c.5401G>T p.G1801C Missense 21/23 - 7
17-41201144-A-T c.5400T>A p.L1800= Synonymous 21/23 - 2
17-41201144-A-G c.5400T>C p.L1800= Synonymous 21/23 - 2
17-41201144-A-C c.5400T>G p.L1800= Synonymous 21/23 - 2
17-41201145-A-T c.5399T>A p.L1800H Missense 21/23 - 5
17-41201145-A-G c.5399T>C p.L1800P Missense 21/23 - 5
17-41201145-A-C c.5399T>G p.L1800R Missense 21/23 - 5
17-41201143-C-CA c.5400dup p.G1801Wfs*29 Frameshift 21/23 - 1
17-41201146-G-T c.5398C>A p.L1800I Missense 21/23 - 5
17-41201146-G-C c.5398C>G p.L1800V Missense 21/23 - 7
17-41201146-G-A c.5398C>T p.L1800F Missense 21/23 - 9
17-41201147-G-T c.5397C>A p.T1799= Synonymous 21/23 - 2
17-41201147-G-C c.5397C>G p.T1799= Synonymous 21/23 - 2
17-41201147-G-A c.5397C>T p.T1799= Synonymous 21/23 - 2
17-41201145-AGG-A c.5397_5398del p.L1800Wfs*29 Frameshift 21/23 - 1
17-41201148-G-C c.5396C>G p.T1799S Missense 21/23 - 5
17-41201148-G-T c.5396C>A p.T1799N Missense 21/23 - 7
17-41201148-G-A c.5396C>T p.T1799I Missense 21/23 - 10
17-41201146-GGGT-G c.5395_5397del p.T1799del InFrameDeletion 21/23 - 1
17-41201145-AG-A c.5398del p.G1801Afs*33 Frameshift 21/23 - 3
17-41201146-GGGTGAATGATGAAAGCTCCTTCACCACA-G c.5370_5397del p.V1791Lfs*34 Frameshift 21/23 - 4
17-41201149-T-G c.5395A>C p.T1799P Missense 21/23 - 5
17-41201149-T-C c.5395A>G p.T1799A Missense 21/23 - 21
17-41201149-T-A c.5395A>T p.T1799S Missense 21/23 - 5
17-41201150-G-T c.5394C>A p.F1798L Missense 21/23 - 5
17-41201150-G-C c.5394C>G p.F1798L Missense 21/23 - 5
17-41201150-G-A c.5394C>T p.F1798= Synonymous 21/23 - 2
17-41201151-A-T c.5393T>A p.F1798Y Missense 21/23 - 5
17-41201151-A-G c.5393T>C p.F1798S Missense 21/23 - 5
17-41201151-A-C c.5393T>G p.F1798C Missense 21/23 - 5
17-41201152-A-T c.5392T>A p.F1798I Missense 21/23 - 5
17-41201152-A-G c.5392T>C p.F1798L Missense 21/23 - 5
17-41201152-A-C c.5392T>G p.F1798V Missense 21/23 - 5
17-41201152-AAT-A c.5391_5392del p.F1798Hfs*31 Frameshift 21/23 - 1
17-41201153-T-G c.5391A>C p.S1797= Synonymous 21/23 - 3
17-41201153-T-C c.5391A>G p.S1797= Synonymous 21/23 - 3
17-41201153-T-A c.5391A>T p.S1797= Synonymous 21/23 - 4
17-41201153-AT-A c.5391del p.F1798Sfs*36 Frameshift 21/23 - 3
17-41201154-G-T c.5390C>A p.S1797* Nonsense 21/23 - 8
17-41201154-G-C c.5390C>G p.S1797* Nonsense 21/23 - 7
17-41201154-G-A c.5390C>T p.S1797L Missense 21/23 - 12
17-41201154-TGATGAAAG-T c.5383_5390del p.L1795Ifs*32 Frameshift 21/23 - 1
17-41201155-A-T c.5389T>A p.S1797T Missense 21/23 - 5
17-41201155-A-G c.5389T>C p.S1797P Missense 21/23 - 5
17-41201155-A-C c.5389T>G p.S1797A Missense 21/23 - 5
17-41201154-G-GA c.5389dup p.S1797Ffs*33 Frameshift 21/23 - 3
17-41201156-T-G c.5388A>C p.S1796= Synonymous 21/23 - 2
17-41201156-T-C c.5388A>G p.S1796= Synonymous 21/23 - 3
17-41201156-T-A c.5388A>T p.S1796= Synonymous 21/23 - 3
17-41201156-TG-AT c.5387_5388delinsAT p.S1796Y Missense 21/23 - 1
17-41201157-G-T c.5387C>A p.S1796* Nonsense 21/23 - 20
17-41201157-G-C c.5387C>G p.S1796* Nonsense 21/23 - 4
17-41201157-G-A c.5387C>T p.S1796L Missense 21/23 - 10
17-41201156-T-TG c.5387dup p.S1797Ifs*33 Frameshift 21/23 - 1
17-41201157-GA-TG c.5386_5387delinsCA p.S1796Q Missense 21/23 - 1
17-41201158-A-T c.5386T>A p.S1796T Missense 21/23 - 5
17-41201158-A-G c.5386T>C p.S1796P Missense 21/23 - 6
17-41201158-A-C c.5386T>G p.S1796A Missense 21/23 - 5
17-41201158-A-AG c.5385_5386insC p.S1796Lfs*34 Frameshift 21/23 - 2
17-41201159-A-T c.5385T>A p.L1795= Synonymous 21/23 - 1
17-41201159-A-G c.5385T>C p.L1795= Synonymous 21/23 - 1
17-41201159-A-C c.5385T>G p.L1795= Synonymous 21/23 - 1
17-41201160-A-T c.5384T>A p.L1795H Missense 21/23 - 5
17-41201160-A-G c.5384T>C p.L1795P Missense 21/23 - 6
17-41201160-A-C c.5384T>G p.L1795R Missense 21/23 - 5
17-41201157-GA-G c.5386del p.S1796Hfs*38 Frameshift 21/23 - 4
17-41201157-G-GA c.5386dup p.S1796Ffs*34 Frameshift 21/23 - 4
17-41201160-A-AG c.5383dup p.L1795Pfs*35 Frameshift 21/23 - 19
17-41201161-G-T c.5383C>A p.L1795I Missense 21/23 - 9
17-41201161-G-C c.5383C>G p.L1795V Missense 21/23 - 5
17-41201161-G-A c.5383C>T p.L1795F Missense 21/23 - 12
17-41201162-C-G c.5382G>C p.E1794D Missense 21/23 - 13
17-41201162-C-A c.5382G>T p.E1794D Missense 21/23 - 13
17-41201162-C-T c.5382G>A p.E1794= Synonymous 21/23 - 2
17-41201163-T-C c.5381A>G p.E1794G Missense 21/23 - 5
17-41201163-T-G c.5381A>C p.E1794A Missense 21/23 - 6
17-41201163-T-A c.5381A>T p.E1794V Missense 21/23 - 5
17-41201158-AAAGCTCCTTCACCACAG-A c.5369_5385del p.S1790Ffs*34 Frameshift 21/23 - 2
17-41201164-C-T c.5380G>A p.E1794K Missense 21/23 - 14
17-41201164-C-G c.5380G>C p.E1794Q Missense 21/23 - 5
17-41201164-C-A c.5380G>T p.E1794* Nonsense 21/23 - 6
17-41201165-C-T c.5379G>A p.K1793= Synonymous 21/23 - 1
17-41201165-C-G c.5379G>C p.K1793N Missense 21/23 - 6
17-41201165-C-A c.5379G>T p.K1793N Missense 21/23 - 6
17-41201163-TC-T c.5380del p.E1794Sfs*40 Frameshift 21/23 - 1
17-41201166-T-G c.5378A>C p.K1793T Missense 21/23 - 9
17-41201166-T-C c.5378A>G p.K1793R Missense 21/23 - 5
17-41201166-T-A c.5378A>T p.K1793M Missense 21/23 - 5
17-41201167-T-G c.5377A>C p.K1793Q Missense 21/23 - 5
17-41201167-T-C c.5377A>G p.K1793E Missense 21/23 - 5
17-41201167-T-A c.5377A>T p.K1793* Nonsense 21/23 - 11
17-41201168-C-A c.5376G>T p.V1792= Synonymous 21/23 - 1
17-41201168-C-T c.5376G>A p.V1792= Synonymous 21/23 - 1
17-41201168-C-G c.5376G>C p.V1792= Synonymous 21/23 - 1
17-41201168-TC-T c.5376del p.K1793Rfs*41 Frameshift 21/23 - 1
17-41201169-A-T c.5375T>A p.V1792E Missense 21/23 - 6
17-41201169-A-G c.5375T>C p.V1792A Missense 21/23 - 6
17-41201169-A-C c.5375T>G p.V1792G Missense 21/23 - 5
17-41201170-C-T c.5374G>A p.V1792M Missense 21/23 - 10
17-41201170-C-G c.5374G>C p.V1792L Missense 21/23 - 9
17-41201170-C-A c.5374G>T p.V1792L Missense 21/23 - 8
17-41201171-C-T c.5373G>A p.V1791= Synonymous 21/23 - 2
17-41201171-C-G c.5373G>C p.V1791= Synonymous 21/23 - 1
17-41201171-C-A c.5373G>T p.V1791= Synonymous 21/23 - 1
17-41201172-A-T c.5372T>A p.V1791E Missense 21/23 - 9
17-41201172-A-G c.5372T>C p.V1791A Missense 21/23 - 11
17-41201172-A-C c.5372T>G p.V1791G Missense 21/23 - 7
17-41201173-C-T c.5371G>A p.V1791M Missense 21/23 - 12
17-41201173-C-G c.5371G>C p.V1791L Missense 21/23 - 6
17-41201173-C-A c.5371G>T p.V1791L Missense 21/23 - 17
17-41201173-AC-A c.5371del p.V1791Wfs*2 Frameshift 21/23 - 1
17-41201174-A-G c.5370T>C p.S1790= Synonymous 21/23 - 1
17-41201174-A-C c.5370T>G p.S1790= Synonymous 21/23 - 1
17-41201174-A-T c.5370T>A p.S1790= Synonymous 21/23 - 1
17-41201174-CAGAAGCACCACACA-C c.5357_5370del p.L1786Rfs*39 Frameshift 21/23 - 1
17-41201175-G-T c.5369C>A p.S1790Y Missense 21/23 - 8
17-41201175-G-C c.5369C>G p.S1790C Missense 21/23 - 5
17-41201175-G-A c.5369C>T p.S1790F Missense 21/23 - 6
17-41201175-GA-AG c.5368_5369delinsCT p.S1790L Missense 21/23 - 1
17-41201173-CAG-C c.5369_5370del p.S1790Cfs*39 Frameshift 21/23 - 1
17-41201176-A-T c.5368T>A p.S1790T Missense 21/23 - 5
17-41201176-A-G c.5368T>C p.S1790P Missense 21/23 - 9
17-41201176-A-C c.5368T>G p.S1790A Missense 21/23 - 5
17-41201177-A-T c.5367T>A p.A1789= Synonymous 21/23 - 1
17-41201177-A-G c.5367T>C p.A1789= Synonymous 21/23 - 1
17-41201177-A-C c.5367T>G p.A1789= Synonymous 21/23 - 1
17-41201175-GA-G c.5368del p.S1790Lfs*3 Frameshift 21/23 - 5
17-41201178-G-T c.5366C>A p.A1789D Missense 21/23 - 5
17-41201178-G-C c.5366C>G p.A1789G Missense 21/23 - 5
17-41201178-G-A c.5366C>T p.A1789V Missense 21/23 - 7
17-41201178-GC-T c.5365_5366delinsA p.A1789Ifs*4 Frameshift 21/23 - 1
17-41201178-AG-A c.5366del p.A1789Vfs*4 Frameshift 21/23 - 2
17-41201177-A-AG c.5366dup p.S1790Ffs*40 Frameshift 21/23 - 1
17-41201179-C-A c.5365G>T p.A1789S Missense 21/23 - 14
17-41201179-C-G c.5365G>C p.A1789P Missense 21/23 - 10
17-41201179-C-T c.5365G>A p.A1789T Missense 21/23 - 25
17-41201179-GCACC-G c.5362_5365del p.G1788Lfs*4 Frameshift 21/23 - 1
17-41201180-A-T c.5364T>A p.G1788= Synonymous 21/23 - 1
17-41201180-A-G c.5364T>C p.G1788= Synonymous 21/23 - 1
17-41201180-A-C c.5364T>G p.G1788= Synonymous 21/23 - 1
17-41201180-ACC-GTCGCT c.5362_5364delinsAGCGAC p.G1788delinsSD MultiAAMissense 21/23 - 2
17-41201176-AAGCACCACAC-A c.5358_5367del p.C1787Lfs*3 Frameshift 21/23 - 1
17-41201181-C-T c.5363G>A p.G1788D Missense 21/23 - 36
17-41201181-C-A c.5363G>T p.G1788V Missense 21/23 - 71
17-41201181-C-G c.5363G>C p.G1788A Missense 21/23 - 14
17-41201181-CCACA-TCACT c.5359_5363delinsAGTGA p.C1787_G1788delinsSD MultiAAMissense 21/23 - 3
17-41201181-C-CT c.5362_5363insA p.G1788Efs*42 Frameshift 21/23 - 1
17-41201182-C-T c.5362G>A p.G1788S Missense 21/23 - 6
17-41201182-C-G c.5362G>C p.G1788R Missense 21/23 - 6
17-41201182-C-A c.5362G>T p.G1788C Missense 21/23 - 14
17-41201183-A-T c.5361T>A p.C1787* Nonsense 21/23 - 2
17-41201183-A-G c.5361T>C p.C1787= Synonymous 21/23 - 1
17-41201183-A-C c.5361T>G p.C1787W Missense 21/23 - 4
17-41201183-AC-CT c.5360_5361delinsAG p.C1787* Missense 21/23 - 2
17-41201184-C-T c.5360G>A p.C1787Y Missense 21/23 - 10
17-41201184-C-A c.5360G>T p.C1787F Missense 21/23 - 5
17-41201184-AC-A c.5360del p.C1787Lfs*6 Frameshift 21/23 - 1
17-41201185-A-T c.5359T>A p.C1787S Missense 21/23 - 38
17-41201184-C-G c.5360G>C p.C1787S Missense 21/23 - 21
17-41201185-A-G c.5359T>C p.C1787R Missense 21/23 - 5
17-41201185-A-C c.5359T>G p.C1787G Missense 21/23 - 6
17-41201186-C-T c.5358G>A p.L1786= Synonymous 21/23 - 2
17-41201186-C-G c.5358G>C p.L1786= Synonymous 21/23 - 2
17-41201186-C-A c.5358G>T p.L1786= Synonymous 21/23 - 2
17-41201181-CCA-C c.5361_5362del p.C1787Wfs*42 Frameshift 21/23 - 7
17-41201186-ACAGC-A c.5355_5358del p.Q1785Hfs*7 Frameshift 21/23 - 1
17-41201187-A-T c.5357T>A p.L1786Q Missense 21/23 - 5
17-41201187-A-G c.5357T>C p.L1786P Missense 21/23 - 25
17-41201187-A-C c.5357T>G p.L1786R Missense 21/23 - 5
17-41201188-G-T c.5356C>A p.L1786M Missense 21/23 - 5
17-41201188-G-C c.5356C>G p.L1786V Missense 21/23 - 5
17-41201188-G-A c.5356C>T p.L1786= Synonymous 21/23 - 2
17-41201188-G-GA c.5355_5356insT p.L1786Sfs*44 Frameshift 21/23 - 1
17-41201189-C-A c.5355G>T p.Q1785H Missense 21/23 - 12
17-41201189-C-G c.5355G>C p.Q1785H Missense 21/23 - 11
17-41201189-C-T c.5355G>A p.Q1785= Synonymous 21/23 - 3
17-41201189-CTG-ATA c.5353_5355delinsTAT p.Q1785Y Missense 21/23 - 1
17-41201190-T-G c.5354A>C p.Q1785P Missense 21/23 - 11
17-41201190-T-C c.5354A>G p.Q1785R Missense 21/23 - 6
17-41201190-T-A c.5354A>T p.Q1785L Missense 21/23 - 5
17-41201191-G-T c.5353C>A p.Q1785K Missense 21/23 - 5
17-41201191-G-C c.5353C>G p.Q1785E Missense 21/23 - 5
17-41201191-G-A c.5353C>T p.Q1785* Nonsense 21/23 - 27
17-41201189-C-CTG c.5353_5354dup p.Q1785Hfs*9 Frameshift 21/23 - 1
17-41201192-T-A c.5352A>T p.V1784= Synonymous 21/23 - 1
17-41201192-T-G c.5352A>C p.V1784= Synonymous 21/23 - 1
17-41201192-T-C c.5352A>G p.V1784= Synonymous 21/23 - 1
17-41201191-G-GT c.5352dup p.Q1785Tfs*45 Frameshift 21/23 - 5
17-41201193-A-T c.5351T>A p.V1784E Missense 21/23 - 5
17-41201193-A-G c.5351T>C p.V1784A Missense 21/23 - 6
17-41201193-A-C c.5351T>G p.V1784G Missense 21/23 - 7
17-41201192-T-TA c.5351dup p.Q1785Tfs*45 Frameshift 21/23 - 1
17-41201193-TA-T c.5351del p.V1784Dfs*9 Frameshift 21/23 - 1
17-41201194-C-T c.5350G>A p.V1784I Missense 21/23 - 9
17-41201194-C-G c.5350G>C p.V1784L Missense 21/23 - 5
17-41201194-C-A c.5350G>T p.V1784L Missense 21/23 - 5
17-41201195-C-T c.5349G>A p.M1783I Missense 21/23 - 18
17-41201195-C-G c.5349G>C p.M1783I Missense 21/23 - 10
17-41201195-C-A c.5349G>T p.M1783I Missense 21/23 - 11
17-41201196-A-G c.5348T>C p.M1783T Missense 21/23 - 39
17-41201196-A-T c.5348T>A p.M1783K Missense 21/23 - 5
17-41201196-A-C c.5348T>G p.M1783R Missense 21/23 - 5
17-41201196-CA-C c.5348del p.M1783Rfs*10 Frameshift 21/23 - 3
17-41201197-T-G c.5347A>C p.M1783L Missense 21/23 - 26
17-41201197-T-A c.5347A>T p.M1783L Missense 21/23 - 8
17-41201197-T-C c.5347A>G p.M1783V Missense 21/23 - 15
17-41201198-C-G c.5346G>C p.W1782C Missense 21/23 - 5
17-41201198-C-A c.5346G>T p.W1782C Missense 21/23 - 5
17-41201198-C-T c.5346G>A p.W1782* Nonsense 21/23 - 32
17-41201199-C-A c.5345G>T p.W1782L Missense 21/23 - 5
17-41201199-C-T c.5345G>A p.W1782* Nonsense 21/23 - 17
17-41201199-C-G c.5345G>C p.W1782S Missense 21/23 - 5
17-41201200-A-T c.5344T>A p.W1782R Missense 21/23 - 7
17-41201200-A-G c.5344T>C p.W1782R Missense 21/23 - 8
17-41201200-A-C c.5344T>G p.W1782G Missense 21/23 - 5
17-41201200-CAT-C c.5343_5344del p.W1782Dfs*47 Frameshift 21/23 - 1
17-41201199-C-CA c.5344dup p.W1782Lfs*48 Frameshift 21/23 - 1
17-41201201-T-G c.5343A>C p.E1781D Missense 21/23 - 9
17-41201201-T-A c.5343A>T p.E1781D Missense 21/23 - 5
17-41201201-T-C c.5343A>G p.E1781= Synonymous 21/23 - 2
17-41201202-T-G c.5342A>C p.E1781A Missense 21/23 - 5
17-41201202-T-A c.5342A>T p.E1781V Missense 21/23 - 5
17-41201202-T-C c.5342A>G p.E1781G Missense 21/23 - 3
17-41201200-AT-A c.5343del p.E1781Dfs*12 Frameshift 21/23 - 1
17-41201203-C-T c.5341G>A p.E1781K Missense 21/23 - 7
17-41201203-C-G c.5341G>C p.E1781Q Missense 21/23 - 5
17-41201203-C-A c.5341G>T p.E1781* Nonsense 21/23 - 9
17-41201204-C-A c.5340G>T p.L1780= Synonymous 21/23 - 1
17-41201204-C-T c.5340G>A p.L1780= Synonymous 21/23 - 1
17-41201204-C-G c.5340G>C p.L1780= Synonymous 21/23 - 1
17-41201206-G-A c.5338C>T p.L1780= Synonymous 21/23 - 1
17-41201202-TC-T c.5341del p.E1781Nfs*12 Frameshift 21/23 - 6
17-41201205-A-G c.5339T>C p.L1780P Missense 21/23 - 53
17-41201205-A-C c.5339T>G p.L1780R Missense 21/23 - 11
17-41201205-A-T c.5339T>A p.L1780Q Missense 21/23 - 8
17-41201203-CCAGTTGAT-C c.5333_5340del p.D1778Gfs*49 SpliceAcceptorDeletion 21/23 20/22 1
17-41201206-G-C c.5338C>G p.L1780V Missense 21/23 - 5
17-41201206-G-T c.5338C>A p.L1780M Missense 21/23 - 4
17-41201206-AG-A c.5338del p.L1780Wfs*13 Frameshift 21/23 - 2
17-41201207-T-G c.5337A>C p.Q1779H Missense 21/23 - 7
17-41201207-T-A c.5337A>T p.Q1779H Missense 21/23 - 7
17-41201207-T-C c.5337A>G p.Q1779= Synonymous 21/23 - 2
17-41201208-T-G c.5336A>C p.Q1779P Missense 21/23 - 5
17-41201208-T-C c.5336A>G p.Q1779R Missense 21/23 - 5
17-41201208-T-A c.5336A>T p.Q1779L Missense 21/23 - 8
17-41201208-T-TA c.5335_5336insT p.Q1779Lfs*51 Frameshift 21/23 - 1
17-41201208-TTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAG-T c.5333-55_5336del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 21/23 20/22 1
17-41201209-G-T c.5335C>A p.Q1779K Missense 21/23 - 8
17-41201209-G-C c.5335C>G p.Q1779E Missense 21/23 - 10
17-41201209-G-A c.5335C>T p.Q1779* Nonsense 21/23 - 17
17-41201209-TG-T c.5335del p.Q1779Nfs*14 Frameshift 21/23 - 29
17-41201209-G-GC c.5334_5335insG p.Q1779Afs*51 SpliceAcceptorInsertion 21/23 - 3
17-41201209-G-GT c.5334_5335insA p.Q1779Tfs*51 SpliceAcceptorInsertion 21/23 - 3
17-41201210-A-T c.5334T>A p.D1778E Missense 21/23 - 5
17-41201210-A-C c.5334T>G p.D1778E Missense 21/23 - 5
17-41201210-A-G c.5334T>C p.D1778= Synonymous 21/23 - 5
17-41201209-G-GA c.5334dup p.Q1779Sfs*51 SpliceAcceptorInsertion 21/23 - 3
17-41201211-T-C c.5333A>G p.D1778G Missense 21/23 - 30
17-41201211-T-G c.5333A>C p.D1778A Missense 21/23 - 4
17-41201211-T-A c.5333A>T p.D1778V Missense 21/23 - 4
17-41201212-C-A c.5333-1G>T - IntronicSNV - 20/22 3
17-41201212-C-G c.5333-1G>C - IntronicSNV - 20/22 3
17-41201212-C-T c.5333-1G>A - IntronicSNV - 20/22 3
17-41201213-T-A c.5333-2A>T - IntronicSNV - 20/22 3
17-41201213-T-C c.5333-2A>G - IntronicSNV - 20/22 3
17-41201213-T-G c.5333-2A>C - IntronicSNV - 20/22 3
17-41201214-TAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTC-T c.5333-61_5333-3del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 20/22 1
17-41201214-A-C c.5333-3T>G - IntronicSNV - 20/22 1
17-41201217-A-C c.5333-6T>G - IntronicSNV - 20/22 1
17-41201217-A-G c.5333-6T>C - IntronicSNV - 20/22 1
17-41201218-T-C c.5333-7A>G - IntronicSNV - 20/22 1
17-41201219-G-A c.5333-8C>T - IntronicSNV - 20/22 1
17-41201245-G-A c.5333-34C>T - IntronicSNV - 20/22 1
17-41201345-G-T c.5333-134C>A - IntronicSNV - 20/22 2
17-41201364-T-C c.5333-153A>G - IntronicSNV - 20/22 11
17-41201702-C-T c.5333-491G>A - IntronicSNV - 20/22 3
17-41201837-T-C c.5333-626A>G - IntronicSNV - 20/22 1
17-41201837-T-G c.5333-626A>C - IntronicSNV - 20/22 1
17-41202147-G-A c.5332+933C>T - IntronicSNV - 20/22 1
17-41202258-C-T c.5332+822G>A - IntronicSNV - 20/22 1
17-41202408-CGAGGTCAGGAGATCGGGACCATATTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA-C c.5332+614_5332+672del - Unclassified - 20/22 1
17-41202490-C-T c.5332+590G>A - IntronicSNV - 20/22 1
17-41202579-G-A c.5332+501C>T - IntronicSNV - 20/22 2
17-41202590-A-C c.5332+490T>G - IntronicSNV - 20/22 1
17-41202590-A-T c.5332+490T>A - IntronicSNV - 20/22 1
17-41202688-G-A c.5332+392C>T - IntronicSNV - 20/22 5
17-41202897-G-GT c.5332+182dup - IntronicInsertion - 20/22 1
17-41202953-G-T c.5332+127C>A - IntronicSNV - 20/22 1
17-41203001-C-G c.5332+79G>C - IntronicSNV - 20/22 1
17-41203001-C-T c.5332+79G>A - IntronicSNV - 20/22 2
17-41203002-G-T c.5332+78C>A - IntronicSNV - 20/22 1
17-41203002-G-A c.5332+78C>T - IntronicSNV - 20/22 1
17-41203003-T-C c.5332+77A>G - IntronicSNV - 20/22 1
17-41203041-G-A c.5332+39C>T - IntronicSNV - 20/22 1
17-41203049-C-T c.5332+31G>A - IntronicSNV - 20/22 1
17-41203057-C-T c.5332+23G>A - IntronicSNV - 20/22 1
17-41203057-C-G c.5332+23G>C - IntronicSNV - 20/22 1
17-41203057-C-A c.5332+23G>T - IntronicSNV - 20/22 1
17-41203058-T-G c.5332+22A>C - IntronicSNV - 20/22 1
17-41203058-T-C c.5332+22A>G - IntronicSNV - 20/22 1
17-41203058-T-A c.5332+22A>T - IntronicSNV - 20/22 1
17-41203059-G-T c.5332+21C>A - IntronicSNV - 20/22 1
17-41203059-G-C c.5332+21C>G - IntronicSNV - 20/22 1
17-41203059-G-A c.5332+21C>T - IntronicSNV - 20/22 1
17-41203060-G-T c.5332+20C>A - IntronicSNV - 20/22 1
17-41203060-G-C c.5332+20C>G - IntronicSNV - 20/22 1
17-41203060-G-A c.5332+20C>T - IntronicSNV - 20/22 1
17-41203061-G-T c.5332+19C>A - IntronicSNV - 20/22 2
17-41203061-G-C c.5332+19C>G - IntronicSNV - 20/22 1
17-41203061-G-A c.5332+19C>T - IntronicSNV - 20/22 1
17-41203062-G-T c.5332+18C>A - IntronicSNV - 20/22 1
17-41203062-G-C c.5332+18C>G - IntronicSNV - 20/22 1
17-41203062-G-A c.5332+18C>T - IntronicSNV - 20/22 1
17-41203063-T-C c.5332+17A>G - IntronicSNV - 20/22 1
17-41203063-T-A c.5332+17A>T - IntronicSNV - 20/22 1
17-41203063-T-G c.5332+17A>C - IntronicSNV - 20/22 2
17-41203064-T-G c.5332+16A>C - IntronicSNV - 20/22 1
17-41203064-T-C c.5332+16A>G - IntronicSNV - 20/22 1
17-41203064-T-A c.5332+16A>T - IntronicSNV - 20/22 1
17-41203065-C-G c.5332+15G>C - IntronicSNV - 20/22 1
17-41203065-C-T c.5332+15G>A - IntronicSNV - 20/22 1
17-41203065-C-A c.5332+15G>T - IntronicSNV - 20/22 1
17-41203066-T-G c.5332+14A>C - IntronicSNV - 20/22 1
17-41203066-T-C c.5332+14A>G - IntronicSNV - 20/22 1
17-41203066-T-A c.5332+14A>T - IntronicSNV - 20/22 1
17-41203067-C-T c.5332+13G>A - IntronicSNV - 20/22 1
17-41203067-C-G c.5332+13G>C - IntronicSNV - 20/22 1
17-41203067-C-A c.5332+13G>T - IntronicSNV - 20/22 4
17-41203068-C-T c.5332+12G>A - IntronicSNV - 20/22 1
17-41203068-C-A c.5332+12G>T - IntronicSNV - 20/22 1
17-41203069-C-T c.5332+11G>A - IntronicSNV - 20/22 2
17-41203069-C-G c.5332+11G>C - IntronicSNV - 20/22 1
17-41203069-C-A c.5332+11G>T - IntronicSNV - 20/22 1
17-41203070-A-T c.5332+10T>A - IntronicSNV - 20/22 1
17-41203070-A-G c.5332+10T>C - IntronicSNV - 20/22 1
17-41203070-A-C c.5332+10T>G - IntronicSNV - 20/22 1
17-41203071-G-T c.5332+9C>A - IntronicSNV - 20/22 1
17-41203071-G-C c.5332+9C>G - IntronicSNV - 20/22 1
17-41203071-G-A c.5332+9C>T - IntronicSNV - 20/22 1
17-41203072-G-T c.5332+8C>A - IntronicSNV - 20/22 1
17-41203072-G-C c.5332+8C>G - IntronicSNV - 20/22 1
17-41203072-G-A c.5332+8C>T - IntronicSNV - 20/22 1
17-41203073-C-T c.5332+7G>A - IntronicSNV - 20/22 1
17-41203073-C-G c.5332+7G>C - IntronicSNV - 20/22 1
17-41203073-C-A c.5332+7G>T - IntronicSNV - 20/22 2
17-41203074-T-G c.5332+6A>C - IntronicSNV - 20/22 1
17-41203074-T-C c.5332+6A>G - IntronicSNV - 20/22 1
17-41203074-T-A c.5332+6A>T - IntronicSNV - 20/22 1
17-41203074-CTCTTACCT-C c.5331_5332+6del - SpliceDonorDeletion 20/23 20/22 3
17-41203075-C-T c.5332+5G>A - IntronicSNV - 20/22 2
17-41203075-C-G c.5332+5G>C - IntronicSNV - 20/22 1
17-41203075-C-A c.5332+5G>T - IntronicSNV - 20/22 1
17-41203076-T-C c.5332+4A>G - IntronicSNV - 20/22 5
17-41203076-T-G c.5332+4A>C - IntronicSNV - 20/22 1
17-41203076-T-A c.5332+4A>T - IntronicSNV - 20/22 1
17-41203077-T-G c.5332+3A>C - IntronicSNV - 20/22 1
17-41203077-T-C c.5332+3A>G - IntronicSNV - 20/22 5
17-41203077-T-A c.5332+3A>T - IntronicSNV - 20/22 1
17-41203075-CT-C c.5332+4del - IntronicDeletion - 20/22 7
17-41203078-A-T c.5332+2T>A - IntronicSNV - 20/22 5
17-41203078-A-G c.5332+2T>C - IntronicSNV - 20/22 5
17-41203078-A-C c.5332+2T>G - IntronicSNV - 20/22 3
17-41203079-C-T c.5332+1G>A - IntronicSNV - 20/22 29
17-41203079-C-G c.5332+1G>C - IntronicSNV - 20/22 12
17-41203079-C-A c.5332+1G>T - IntronicSNV - 20/22 7
17-41203079-CCT-ATGTTG c.5331_5332+1delinsCAACAT - SpliceDonorBlockSubstitution 20/23 20/22 2
17-41203079-ACCT-A c.5331_5332+1del - SpliceDonorDeletion 20/23 20/22 3
17-41203080-C-T c.5332G>A p.D1778N Missense 20/23 - 30
17-41203080-C-A c.5332G>T p.D1778Y Missense 20/23 - 20
17-41203078-AC-A c.5332+1del - IntronicDeletion 20/23 - 5
17-41203080-C-CG c.5331_5332insC p.D1778Rfs*52 SpliceDonorInsertion 20/23 - 1
17-41203080-C-CA c.5331_5332insT p.D1778* SpliceDonorInsertion 20/23 - 1
17-41203080-C-G c.5332G>C p.D1778H Missense 20/23 - 7
17-41203080-CCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA-C c.5279_5332del p.I1760_D1778delinsN SpliceDonorDeletion 20/23 - 2
17-41203081-T-C c.5331A>G p.T1777= Synonymous 20/23 - 2
17-41203081-T-A c.5331A>T p.T1777= Synonymous 20/23 - 2
17-41203081-T-G c.5331A>C p.T1777= Synonymous 20/23 - 2
17-41203078-ACCTGTGGGCATGTTGGTGAAGGG-A c.5311_5332+1del - SpliceDonorDeletion 20/23 - 3
17-41203080-C-CT c.5331dup p.D1778Rfs*52 SpliceDonorInsertion 20/23 - 1
17-41203081-CTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGAT-C c.5278_5331del p.I1760_T1777del SpliceDonorDeletion 20/23 - 1
17-41203082-G-T c.5330C>A p.T1777K Missense 20/23 - 5
17-41203082-G-C c.5330C>G p.T1777R Missense 20/23 - 5
17-41203082-G-A c.5330C>T p.T1777I Missense 20/23 - 12
17-41203083-T-G c.5329A>C p.T1777P Missense 20/23 - 5
17-41203083-T-C c.5329A>G p.T1777A Missense 20/23 - 6
17-41203083-T-A c.5329A>T p.T1777S Missense 20/23 - 9
17-41203079-CCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGAT-C c.5278_5332del p.F1761Nfs*14 Unclassified 20/23 19/22 1
17-41203082-G-GT c.5329dup p.T1777Nfs*53 Frameshift 20/23 - 6
17-41203084-G-T c.5328C>A p.P1776= Synonymous 20/23 - 2
17-41203084-G-C c.5328C>G p.P1776= Synonymous 20/23 - 3
17-41203084-G-A c.5328C>T p.P1776= Synonymous 20/23 - 6
17-41203085-G-T c.5327C>A p.P1776H Missense 20/23 - 18
17-41203085-G-A c.5327C>T p.P1776L Missense 20/23 - 19
17-41203085-G-C c.5327C>G p.P1776R Missense 20/23 - 5
17-41203086-G-A c.5326C>T p.P1776S Missense 20/23 - 16
17-41203083-TG-T c.5328del p.T1777Qfs*16 Frameshift 20/23 - 6
17-41203086-G-T c.5326C>A p.P1776T Missense 20/23 - 5
17-41203086-G-C c.5326C>G p.P1776A Missense 20/23 - 5
17-41203083-T-TG c.5328dup p.T1777Hfs*53 Frameshift 20/23 - 11
17-41203087-C-T c.5325G>A p.M1775I Missense 20/23 - 10
17-41203087-C-G c.5325G>C p.M1775I Missense 20/23 - 5
17-41203087-C-A c.5325G>T p.M1775I Missense 20/23 - 5
17-41203087-CA-GC c.5324_5325delinsGC p.M1775S Missense 20/23 - 1
17-41203088-A-T c.5324T>A p.M1775K Missense 20/23 - 41
17-41203088-A-C c.5324T>G p.M1775R Missense 20/23 - 159
17-41203088-A-G c.5324T>C p.M1775T Missense 20/23 - 8
17-41203088-AT-TC c.5323_5324delinsGA p.M1775E Missense 20/23 - 4
17-41203088-CAT-C c.5323_5324del p.M1775Afs*54 Frameshift 20/23 - 5
17-41203089-T-G c.5323A>C p.M1775L Missense 20/23 - 6
17-41203089-T-A c.5323A>T p.M1775L Missense 20/23 - 7
17-41203089-T-C c.5323A>G p.M1775V Missense 20/23 - 7
17-41203090-G-T c.5322C>A p.N1774K Missense 20/23 - 5
17-41203090-G-C c.5322C>G p.N1774K Missense 20/23 - 5
17-41203090-G-A c.5322C>T p.N1774= Synonymous 20/23 - 1
17-41203090-GT-CC c.5321_5322delinsGG p.N1774R Missense 20/23 - 1
17-41203091-T-G c.5321A>C p.N1774T Missense 20/23 - 6
17-41203091-T-C c.5321A>G p.N1774S Missense 20/23 - 12
17-41203091-T-A c.5321A>T p.N1774I Missense 20/23 - 5
17-41203091-TT-GC c.5320_5321delinsGC p.N1774A Missense 20/23 - 1
17-41203091-GTT-G c.5320_5321del p.N1774Hfs*55 Frameshift 20/23 - 5
17-41203092-T-G c.5320A>C p.N1774H Missense 20/23 - 6
17-41203092-T-C c.5320A>G p.N1774D Missense 20/23 - 6
17-41203092-T-A c.5320A>T p.N1774Y Missense 20/23 - 5
17-41203093-G-T c.5319C>A p.T1773= Synonymous 20/23 - 1
17-41203093-G-C c.5319C>G p.T1773= Synonymous 20/23 - 1
17-41203093-G-A c.5319C>T p.T1773= Synonymous 20/23 - 1
17-41203094-G-C c.5318C>G p.T1773S Missense 20/23 - 9
17-41203095-T-A c.5317A>T p.T1773S Missense 20/23 - 21
17-41203092-T-TG c.5319dup p.N1774Qfs*56 Frameshift 20/23 - 14
17-41203094-G-A c.5318C>T p.T1773I Missense 20/23 - 20
17-41203094-G-T c.5318C>A p.T1773N Missense 20/23 - 5
17-41203094-GT-CA c.5317_5318delinsTG p.T1773C Missense 20/23 - 1
17-41203095-T-G c.5317A>C p.T1773P Missense 20/23 - 5
17-41203095-T-C c.5317A>G p.T1773A Missense 20/23 - 6
17-41203096-G-T c.5316C>A p.F1772L Missense 20/23 - 6
17-41203096-G-A c.5316C>T p.F1772= Synonymous 20/23 - 2
17-41203097-A-C c.5315T>G p.F1772C Missense 20/23 - 10
17-41203097-A-T c.5315T>A p.F1772Y Missense 20/23 - 5
17-41203097-A-G c.5315T>C p.F1772S Missense 20/23 - 5
17-41203098-A-T c.5314T>A p.F1772I Missense 20/23 - 5
17-41203098-A-G c.5314T>C p.F1772L Missense 20/23 - 6
17-41203098-A-C c.5314T>G p.F1772V Missense 20/23 - 4
17-41203096-GA-G c.5315del p.F1772Sfs*21 Frameshift 20/23 - 5
17-41203096-G-C c.5316C>G p.F1772L Missense 20/23 - 4
17-41203099-G-C c.5313C>G p.P1771= Synonymous 20/23 - 3
17-41203099-G-A c.5313C>T p.P1771= Synonymous 20/23 - 3
17-41203099-G-T c.5313C>A p.P1771= Synonymous 20/23 - 2
17-41203100-G-T c.5312C>A p.P1771H Missense 20/23 - 6
17-41203100-G-C c.5312C>G p.P1771R Missense 20/23 - 13
17-41203100-G-A c.5312C>T p.P1771L Missense 20/23 - 16
17-41203101-G-T c.5311C>A p.P1771T Missense 20/23 - 5
17-41203101-G-C c.5311C>G p.P1771A Missense 20/23 - 7
17-41203101-G-A c.5311C>T p.P1771S Missense 20/23 - 8
17-41203101-GGC-G c.5310_5311del p.P1771Lfs*58 Frameshift 20/23 - 5
17-41203102-C-T c.5310G>A p.G1770= Synonymous 20/23 - 5
17-41203102-C-A c.5310G>T p.G1770= Synonymous 20/23 - 3
17-41203102-C-G c.5310G>C p.G1770= Synonymous 20/23 - 3
17-41203103-C-T c.5309G>A p.G1770E Missense 20/23 - 10
17-41203103-C-G c.5309G>C p.G1770A Missense 20/23 - 8
17-41203103-C-A c.5309G>T p.G1770V Missense 20/23 - 33
17-41203101-GCC-G c.5309_5310del p.G1770Afs*59 Frameshift 20/23 - 1
17-41203104-C-T c.5308G>A p.G1770R Missense 20/23 - 5
17-41203104-C-G c.5308G>C p.G1770R Missense 20/23 - 6
17-41203104-C-A c.5308G>T p.G1770W Missense 20/23 - 7
17-41203101-GC-G c.5310del p.F1772Sfs*21 Frameshift 20/23 - 7
17-41203101-G-GC c.5310dup p.P1771Afs*59 Frameshift 20/23 - 5
17-41203105-A-T c.5307T>A p.Y1769* Nonsense 20/23 - 6
17-41203105-A-C c.5307T>G p.Y1769* Nonsense 20/23 - 3
17-41203105-A-G c.5307T>C p.Y1769= Synonymous 20/23 - 1
17-41203106-T-C c.5306A>G p.Y1769C Missense 20/23 - 17
17-41203106-T-G c.5306A>C p.Y1769S Missense 20/23 - 5
17-41203106-T-A c.5306A>T p.Y1769F Missense 20/23 - 5
17-41203107-A-T c.5305T>A p.Y1769N Missense 20/23 - 5
17-41203107-A-C c.5305T>G p.Y1769D Missense 20/23 - 5
17-41203107-A-G c.5305T>C p.Y1769H Missense 20/23 - 3
17-41203108-G-T c.5304C>A p.C1768* Nonsense 20/23 - 2
17-41203108-G-C c.5304C>G p.C1768W Missense 20/23 - 5
17-41203108-G-A c.5304C>T p.C1768= Synonymous 20/23 - 5
17-41203108-AG-A c.5304del p.Y1769Mfs*24 Frameshift 20/23 - 7
17-41203109-C-A c.5303G>T p.C1768F Missense 20/23 - 7
17-41203109-C-G c.5303G>C p.C1768S Missense 20/23 - 6
17-41203109-C-T c.5303G>A p.C1768Y Missense 20/23 - 15
17-41203110-A-G c.5302T>C p.C1768R Missense 20/23 - 5
17-41203110-A-T c.5302T>A p.C1768S Missense 20/23 - 5
17-41203110-A-C c.5302T>G p.C1768G Missense 20/23 - 10
17-41203111-A-G c.5301T>C p.C1767= Synonymous 20/23 - 1
17-41203111-A-C c.5301T>G p.C1767W Missense 20/23 - 4
17-41203111-A-T c.5301T>A p.C1767* Nonsense 20/23 - 5
17-41203109-CA-C c.5302del p.C1768Afs*25 Frameshift 20/23 - 4
17-41203112-C-G c.5300G>C p.C1767S Missense 20/23 - 5
17-41203112-C-T c.5300G>A p.C1767Y Missense 20/23 - 6
17-41203112-C-A c.5300G>T p.C1767F Missense 20/23 - 5
17-41203110-AAC-A c.5300_5301del p.C1767Lfs*62 Frameshift 20/23 - 5
17-41203113-A-T c.5299T>A p.C1767S Missense 20/23 - 5
17-41203113-A-G c.5299T>C p.C1767R Missense 20/23 - 7
17-41203113-A-C c.5299T>G p.C1767G Missense 20/23 - 5
17-41203113-CA-C c.5299del p.C1767Vfs*26 Frameshift 20/23 - 4
17-41203114-G-T c.5298C>A p.I1766= Synonymous 20/23 - 2
17-41203114-G-A c.5298C>T p.I1766= Synonymous 20/23 - 1
17-41203114-G-C c.5298C>G p.I1766M Missense 20/23 - 5
17-41203115-A-C c.5297T>G p.I1766S Missense 20/23 - 38
17-41203115-A-T c.5297T>A p.I1766N Missense 20/23 - 15
17-41203115-A-G c.5297T>C p.I1766T Missense 20/23 - 7
17-41203116-T-G c.5296A>C p.I1766L Missense 20/23 - 5
17-41203116-T-C c.5296A>G p.I1766V Missense 20/23 - 10
17-41203116-T-A c.5296A>T p.I1766F Missense 20/23 - 5
17-41203117-T-G c.5295A>C p.E1765D Missense 20/23 - 6
17-41203117-T-A c.5295A>T p.E1765D Missense 20/23 - 5
17-41203117-T-C c.5295A>G p.E1765= Synonymous 20/23 - 1
17-41203118-T-G c.5294A>C p.E1765A Missense 20/23 - 5
17-41203118-T-C c.5294A>G p.E1765G Missense 20/23 - 5
17-41203118-T-A c.5294A>T p.E1765V Missense 20/23 - 5
17-41203115-AT-A c.5296del p.I1766Sfs*27 Frameshift 20/23 - 3
17-41203115-A-AT c.5296dup p.I1766Nfs*64 Frameshift 20/23 - 2
17-41203119-C-T c.5293G>A p.E1765K Missense 20/23 - 8
17-41203119-C-G c.5293G>C p.E1765Q Missense 20/23 - 5
17-41203119-C-A c.5293G>T p.E1765* Nonsense 20/23 - 6
17-41203119-C-CA c.5292_5293insT p.E1765* Nonsense 20/23 - 1
17-41203120-T-G c.5292A>C p.L1764= Synonymous 20/23 - 2
17-41203120-T-C c.5292A>G p.L1764= Synonymous 20/23 - 2
17-41203120-T-A c.5292A>T p.L1764= Synonymous 20/23 - 2
17-41203122-G-A c.5290C>T p.L1764= Synonymous 20/23 - 1
17-41203121-A-G c.5291T>C p.L1764P Missense 20/23 - 45
17-41203121-A-T c.5291T>A p.L1764Q Missense 20/23 - 5
17-41203121-A-C c.5291T>G p.L1764R Missense 20/23 - 3
17-41203122-G-T c.5290C>A p.L1764I Missense 20/23 - 7
17-41203122-G-C c.5290C>G p.L1764V Missense 20/23 - 5
17-41203122-G-GTTA c.5289_5290insTAA p.G1763_L1764ins* InFrameInsertion 20/23 - 1
17-41203123-C-A c.5289G>T p.G1763= Synonymous 20/23 - 1
17-41203123-GCCCCCT-G c.5284_5289del p.R1762_G1763del InFrameDeletion 20/23 - 1
17-41203124-C-A c.5288G>T p.G1763V Missense 20/23 - 24
17-41203124-C-T c.5288G>A p.G1763E Missense 20/23 - 8
17-41203124-C-G c.5288G>C p.G1763A Missense 20/23 - 5
17-41203124-CC-TT c.5287_5288delinsAA p.G1763K Missense 20/23 - 1
17-41203125-C-G c.5287G>C p.G1763R Missense 20/23 - 9
17-41203125-C-A c.5287G>T p.G1763W Missense 20/23 - 3
17-41203125-C-T c.5287G>A p.G1763R Missense 20/23 - 3
17-41203126-C-T c.5286G>A p.R1762= Synonymous 20/23 - 2
17-41203126-C-G c.5286G>C p.R1762S Missense 20/23 - 5
17-41203126-C-A c.5286G>T p.R1762S Missense 20/23 - 5
17-41203127-C-T c.5285G>A p.R1762K Missense 20/23 - 13
17-41203127-C-G c.5285G>C p.R1762T Missense 20/23 - 9
17-41203127-C-A c.5285G>T p.R1762M Missense 20/23 - 13
17-41203122-G-GC c.5289dup p.L1764Afs*66 Frameshift 20/23 - 8
17-41203122-GC-G c.5289del p.L1764* Frameshift 20/23 - 9
17-41203128-T-G c.5284A>C p.R1762= Synonymous 20/23 - 1
17-41203128-T-C c.5284A>G p.R1762G Missense 20/23 - 6
17-41203128-T-A c.5284A>T p.R1762W Missense 20/23 - 5
17-41203128-CT-C c.5284del p.R1762Gfs*3 Frameshift 20/23 - 4
17-41203129-G-T c.5283C>A p.F1761L Missense 20/23 - 5
17-41203129-G-C c.5283C>G p.F1761L Missense 20/23 - 5
17-41203129-G-A c.5283C>T p.F1761= Synonymous 20/23 - 2
17-41203130-A-G c.5282T>C p.F1761S Missense 20/23 - 22
17-41203130-A-T c.5282T>A p.F1761Y Missense 20/23 - 4
17-41203130-A-C c.5282T>G p.F1761C Missense 20/23 - 9
17-41203126-CCTGAAGAT-C c.5278_5285del p.I1760Gfs*67 SpliceAcceptorDeletion 20/23 19/22 1
17-41203131-A-T c.5281T>A p.F1761I Missense 20/23 - 7
17-41203131-A-G c.5281T>C p.F1761L Missense 20/23 - 8
17-41203131-A-C c.5281T>G p.F1761V Missense 20/23 - 5
17-41203129-GA-G c.5282del p.F1761Sfs*4 Frameshift 20/23 - 3
17-41203132-G-T c.5280C>A p.I1760= Synonymous 20/23 - 2
17-41203132-G-A c.5280C>T p.I1760= Synonymous 20/23 - 2
17-41203132-G-C c.5280C>G p.I1760M Missense 20/23 - 4
17-41203133-A-T c.5279T>A p.I1760N Missense 20/23 - 4
17-41203133-A-G c.5279T>C p.I1760T Missense 20/23 - 5
17-41203133-A-C c.5279T>G p.I1760S Missense 20/23 - 4
17-41203134-T-G c.5278A>C p.I1760L Missense 20/23 - 4
17-41203134-T-C c.5278A>G p.I1760V Missense 20/23 - 8
17-41203134-T-A c.5278A>T p.I1760F Missense 20/23 - 5
17-41203133-A-AT c.5278dup p.I1760Nfs*70 SpliceAcceptorInsertion - - 1
17-41203134-AT-A c.5278del p.I1760Sfs*5 Frameshift 20/23 - 1
17-41203135-C-A c.5278-1G>T - IntronicSNV - 19/22 7
17-41203135-C-G c.5278-1G>C - IntronicSNV - 19/22 7
17-41203135-C-T c.5278-1G>A - IntronicSNV - 19/22 7
17-41203136-T-A c.5278-2A>T - IntronicSNV - 19/22 3
17-41203136-T-C c.5278-2A>G - IntronicSNV - 19/22 3
17-41203137-G-A c.5278-3C>T - IntronicSNV - 19/22 1
17-41203145-A-G c.5278-11T>C - IntronicSNV - 19/22 1
17-41203148-G-C c.5278-14C>G - IntronicSNV - 19/22 1
17-41203154-G-A c.5278-20C>T - IntronicSNV - 19/22 1
17-41203179-G-A c.5278-45C>T - IntronicSNV - 19/22 1
17-41203189-G-A c.5278-55C>T - IntronicSNV - 19/22 1
17-41203325-T-A c.5278-191A>T - IntronicSNV - 19/22 8
17-41203325-T-C c.5278-191A>G - IntronicSNV - 19/22 8
17-41203591-T-C c.5278-457A>G - IntronicSNV - 19/22 3
17-41204377-A-G c.5278-1243T>C - IntronicSNV - 19/22 4
17-41204377-A-T c.5278-1243T>A - IntronicSNV - 19/22 4
17-41204390-T-C c.5278-1256A>G - IntronicSNV - 19/22 3
17-41204653-T-C c.5278-1519A>G - IntronicSNV - 19/22 1
17-41204778-T-C c.5278-1644A>G - IntronicSNV - 19/22 1
17-41204856-G-A c.5278-1722C>T - IntronicSNV - 19/22 2
17-41204856-G-C c.5278-1722C>G - IntronicSNV - 19/22 2
17-41204900-T-G c.5278-1766A>C - IntronicSNV - 19/22 1
17-41205008-C-T c.5278-1874G>A - IntronicSNV - 19/22 1
17-41205721-G-A c.5278-2587C>T - IntronicSNV - 19/22 2
17-41205772-G-A c.5278-2638C>T - IntronicSNV - 19/22 2
17-41205892-CAGGAGAATCACTTGAACCCTGGAGGCAGAGATTGCGGTGAGCCAAGATCACGCCATTGT-C c.5278-2816_5278-2758del - SpliceDonorDeletion - 19/22 4
17-41205941-A-G c.5278-2807T>C - IntronicSNV - 19/22 2
17-41206056-T-C c.5278-2922A>G - IntronicSNV - 19/22 3
17-41206097-C-T c.5278-2963G>A - IntronicSNV - 19/22 1
17-41206630-A-T c.5277+2439T>A - IntronicSNV - 19/22 1
17-41206852-T-C c.5277+2217A>G - IntronicSNV - 19/22 2
17-41207400-TCATGCTTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGTGGATCACTGGAGGCCAGGA-T c.5277+1611_5277+1669del - IntronicDeletion - 19/22 2
17-41207462-C-A c.5277+1607G>T - IntronicSNV - 19/22 1
17-41208208-C-T c.5277+861G>A - IntronicSNV - 19/22 1
17-41208467-A-G c.5277+602T>C - IntronicSNV - 19/22 1
17-41208698-AAAAAAGAGAGAGAGAGAGCAAGAGAGAGAGAGAGAAAGACACCCCAGTGAAGTGAAAAG-A c.5277+312_5277+370del - Unclassified - 19/22 1
17-41208754-A-G c.5277+315T>C - IntronicSNV - 19/22 1
17-41208960-G-T c.5277+109C>A - IntronicSNV - 19/22 1
17-41208991-C-T c.5277+78G>A - IntronicSNV - 19/22 5
17-41208992-G-A c.5277+77C>T - IntronicSNV - 19/22 1
17-41208992-G-T c.5277+77C>A - IntronicSNV - 19/22 1
17-41208991-C-CG c.5277+77dup - IntronicInsertion - 19/22 1
17-41209008-G-GGGAGTGGAATAC c.5277+60_5277+61insGTATTCCACTCC - IntronicInsertion - 19/22 1
17-41209048-A-C c.5277+21T>G - IntronicSNV - 19/22 1
17-41209049-C-T c.5277+20G>A - IntronicSNV - 19/22 1
17-41209054-G-A c.5277+15C>T - IntronicSNV - 19/22 2
17-41209059-G-C c.5277+10C>G - IntronicSNV - 19/22 1
17-41209059-G-A c.5277+10C>T - IntronicSNV - 19/22 1
17-41209060-G-T c.5277+9C>A - IntronicSNV - 19/22 1
17-41209060-G-C c.5277+9C>G - IntronicSNV - 19/22 1
17-41209060-G-A c.5277+9C>T - IntronicSNV - 19/22 1
17-41209061-A-T c.5277+8T>A - IntronicSNV - 19/22 1
17-41209061-A-G c.5277+8T>C - IntronicSNV - 19/22 1
17-41209061-A-C c.5277+8T>G - IntronicSNV - 19/22 1
17-41209062-G-T c.5277+7C>A - IntronicSNV - 19/22 1
17-41209062-G-C c.5277+7C>G - IntronicSNV - 19/22 1
17-41209062-G-A c.5277+7C>T - IntronicSNV - 19/22 2
17-41209063-C-T c.5277+6G>A - IntronicSNV - 19/22 1
17-41209063-C-G c.5277+6G>C - IntronicSNV - 19/22 2
17-41209063-C-A c.5277+6G>T - IntronicSNV - 19/22 2
17-41209064-T-G c.5277+5A>C - IntronicSNV - 19/22 1
17-41209064-T-C c.5277+5A>G - IntronicSNV - 19/22 1
17-41209064-T-A c.5277+5A>T - IntronicSNV - 19/22 2
17-41209065-T-G c.5277+4A>C - IntronicSNV - 19/22 1
17-41209065-T-C c.5277+4A>G - IntronicSNV - 19/22 2
17-41209065-T-A c.5277+4A>T - IntronicSNV - 19/22 2
17-41209066-T-A c.5277+3A>T - IntronicSNV - 19/22 1
17-41209066-T-G c.5277+3A>C - IntronicSNV - 19/22 2
17-41209066-T-C c.5277+3A>G - IntronicSNV - 19/22 2
17-41209067-A-T c.5277+2T>A - IntronicSNV - 19/22 1
17-41209067-A-G c.5277+2T>C - IntronicSNV - 19/22 1
17-41209067-A-C c.5277+2T>G - IntronicSNV - 19/22 1
17-41209062-GCTTTAC-G c.5277+1_5277+6del - SpliceDonorDeletion 19/23 19/22 4
17-41209068-C-T c.5277+1G>A - IntronicSNV - 19/22 36
17-41209068-C-G c.5277+1G>C - IntronicSNV - 19/22 3
17-41209068-C-A c.5277+1G>T - IntronicSNV - 19/22 5
17-41209068-C-CTA c.5277_5277+1insTA p.I1760* SpliceDonorInsertion - - 1
17-41209068-ACCT-A c.5276_5277+1del - SpliceDonorDeletion 19/23 19/22 1
17-41209069-C-T c.5277G>A p.K1759= Synonymous 19/23 - 8
17-41209069-C-A c.5277G>T p.K1759N Missense 19/23 - 15
17-41209069-C-G c.5277G>C p.K1759N Missense 19/23 - 6
17-41209069-CCTT-C c.5275_5277del p.K1759del InFrameDeletion 19/23 - 6
17-41209067-AC-A c.5277+1del - IntronicDeletion 19/23 - 8
17-41209069-CCTTTCTG-C c.5271_5277del p.D1757Efs*6 SpliceDonorDeletion 19/23 - 2
17-41209070-T-G c.5276A>C p.K1759T Missense 19/23 - 4
17-41209070-T-C c.5276A>G p.K1759R Missense 19/23 - 11
17-41209070-T-A c.5276A>T p.K1759M Missense 19/23 - 5
17-41209070-TT-CA c.5275_5276delinsTG p.K1759W SpliceDonorBlockSubstitution 19/23 - 5
17-41209070-CTTTCTGT-C c.5270_5276del p.D1757Gfs*6 SpliceDonorDeletion 19/23 - 3
17-41209071-T-G c.5275A>C p.K1759Q Missense 19/23 - 5
17-41209071-T-C c.5275A>G p.K1759E Missense 19/23 - 6
17-41209071-T-A c.5275A>T p.K1759* Nonsense 19/23 - 2
17-41209071-TTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACA-T c.5217_5275del p.D1739Efs*71 InFrameDeletion 19/23 - 8
17-41209072-T-C c.5274A>G p.R1758= Synonymous 19/23 - 3
17-41209072-T-G c.5274A>C p.R1758S Missense 19/23 - 7
17-41209072-T-A c.5274A>T p.R1758S Missense 19/23 - 7
17-41209070-TTTC-T c.5273_5275del p.R1758del InFrameDeletion 19/23 - 1
17-41209069-CT-C c.5276del p.K1759Rfs*6 Frameshift 19/23 - 4
17-41209072-TCT-ATG c.5272_5274delinsCAT p.R1758H Missense 19/23 - 1
17-41209073-C-T c.5273G>A p.R1758K Missense 19/23 - 6
17-41209073-C-G c.5273G>C p.R1758T Missense 19/23 - 5
17-41209073-C-A c.5273G>T p.R1758I Missense 19/23 - 7
17-41209071-TTCTGTCC-T c.5268_5274del p.D1757Rfs*6 Frameshift 19/23 - 3
17-41209073-TCTGTCCTG-T c.5266_5273del p.Q1756Kfs*71 Frameshift 19/23 - 2
17-41209074-T-G c.5272A>C p.R1758= Synonymous 19/23 - 1
17-41209074-T-C c.5272A>G p.R1758G Missense 19/23 - 7
17-41209074-T-A c.5272A>T p.R1758* Nonsense 19/23 - 4
17-41209075-G-T c.5271C>A p.D1757E Missense 19/23 - 6
17-41209075-G-C c.5271C>G p.D1757E Missense 19/23 - 5
17-41209075-G-A c.5271C>T p.D1757= Synonymous 19/23 - 1
17-41209075-TGTC-T c.5269_5271del p.D1757del InFrameDeletion 19/23 - 3
17-41209076-T-C c.5270A>G p.D1757G Missense 19/23 - 7
17-41209076-T-G c.5270A>C p.D1757A Missense 19/23 - 5
17-41209076-T-A c.5270A>T p.D1757V Missense 19/23 - 5
17-41209072-TCTGTC-T c.5269_5273del p.D1757Kfs*71 Frameshift 19/23 - 4
17-41209076-T-TG c.5269_5270insC p.D1757Afs*73 Frameshift 19/23 - 3
17-41209077-C-T c.5269G>A p.D1757N Missense 19/23 - 12
17-41209077-C-G c.5269G>C p.D1757H Missense 19/23 - 12
17-41209077-C-A c.5269G>T p.D1757Y Missense 19/23 - 10
17-41209077-C-CG c.5268_5269insC p.D1757Rfs*73 Frameshift 19/23 - 3
17-41209078-C-T c.5268G>A p.Q1756= Synonymous 19/23 - 3
17-41209078-C-G c.5268G>C p.Q1756H Missense 19/23 - 5
17-41209078-C-A c.5268G>T p.Q1756H Missense 19/23 - 6
17-41209078-C-CG c.5267_5268insC p.Q1756Hfs*74 Frameshift 19/23 - 8
17-41209078-CTG-ACA c.5266_5268delinsTGT p.Q1756C Missense 19/23 - 3
17-41209079-T-G c.5267A>C p.Q1756P Missense 19/23 - 8
17-41209079-T-C c.5267A>G p.Q1756R Missense 19/23 - 10
17-41209079-T-A c.5267A>T p.Q1756L Missense 19/23 - 5
17-41209078-C-CT c.5267dup p.D1757Gfs*73 Frameshift 19/23 - 1
17-41209080-G-T c.5266C>A p.Q1756K Missense 19/23 - 6
17-41209080-G-C c.5266C>G p.Q1756E Missense 19/23 - 5
17-41209080-G-A c.5266C>T p.Q1756* Nonsense 19/23 - 14
17-41209081-G-T c.5265C>A p.S1755= Synonymous 19/23 - 1
17-41209081-G-C c.5265C>G p.S1755= Synonymous 19/23 - 2
17-41209081-G-A c.5265C>T p.S1755= Synonymous 19/23 - 2
17-41209079-T-TG c.5266dup p.Q1756Pfs*74 Frameshift 19/23 - 355
17-41209082-G-T c.5264C>A p.S1755Y Missense 19/23 - 5
17-41209082-G-C c.5264C>G p.S1755C Missense 19/23 - 6
17-41209082-G-A c.5264C>T p.S1755F Missense 19/23 - 10
17-41209083-A-T c.5263T>A p.S1755T Missense 19/23 - 5
17-41209083-A-G c.5263T>C p.S1755P Missense 19/23 - 6
17-41209083-A-C c.5263T>G p.S1755A Missense 19/23 - 5
17-41209084-T-C c.5262A>G p.E1754= Synonymous 19/23 - 3
17-41209084-T-A c.5262A>T p.E1754D Missense 19/23 - 5
17-41209084-T-G c.5262A>C p.E1754D Missense 19/23 - 5
17-41209085-T-G c.5261A>C p.E1754A Missense 19/23 - 5
17-41209085-T-C c.5261A>G p.E1754G Missense 19/23 - 7
17-41209085-T-A c.5261A>T p.E1754V Missense 19/23 - 9
17-41209086-C-T c.5260G>A p.E1754K Missense 19/23 - 10
17-41209086-C-G c.5260G>C p.E1754Q Missense 19/23 - 11
17-41209086-C-A c.5260G>T p.E1754* Nonsense 19/23 - 18
17-41209087-T-C c.5259A>G p.R1753= Synonymous 19/23 - 2
17-41209087-T-G c.5259A>C p.R1753S Missense 19/23 - 5
17-41209087-T-A c.5259A>T p.R1753S Missense 19/23 - 9
17-41209087-CT-C c.5259del p.E1754Nfs*11 Frameshift 19/23 - 7
17-41209088-C-G c.5258G>C p.R1753T Missense 19/23 - 19
17-41209088-C-T c.5258G>A p.R1753K Missense 19/23 - 13
17-41209088-C-A c.5258G>T p.R1753I Missense 19/23 - 7
17-41209089-T-G c.5257A>C p.R1753= Synonymous 19/23 - 1
17-41209089-T-C c.5257A>G p.R1753G Missense 19/23 - 7
17-41209089-T-A c.5257A>T p.R1753* Nonsense 19/23 - 6
17-41209089-T-TA c.5256_5257insT p.R1753* Nonsense 19/23 - 1
17-41209090-T-A c.5256A>T p.A1752= Synonymous 19/23 - 3
17-41209090-T-G c.5256A>C p.A1752= Synonymous 19/23 - 2
17-41209090-T-C c.5256A>G p.A1752= Synonymous 19/23 - 2
17-41209088-C-CT c.5257dup p.R1753Kfs*77 Frameshift 19/23 - 4
17-41209091-G-C c.5255C>G p.A1752G Missense 19/23 - 15
17-41209091-G-T c.5255C>A p.A1752E Missense 19/23 - 6
17-41209091-G-A c.5255C>T p.A1752V Missense 19/23 - 15
17-41209090-T-TG c.5255dup p.R1753Kfs*77 Frameshift 19/23 - 2
17-41209091-GC-CT c.5254_5255delinsAG p.A1752R Missense 19/23 - 1
17-41209092-C-T c.5254G>A p.A1752T Missense 19/23 - 19
17-41209092-C-G c.5254G>C p.A1752P Missense 19/23 - 25
17-41209092-C-A c.5254G>T p.A1752S Missense 19/23 - 6
17-41209093-TCG-CCA c.5251_5253delinsTGG p.R1751W Missense 19/23 - 1
17-41209094-C-T c.5252G>A p.R1751Q Missense 19/23 - 43
17-41209094-C-G c.5252G>C p.R1751P Missense 19/23 - 20
17-41209094-C-A c.5252G>T p.R1751L Missense 19/23 - 15
17-41209095-G-A c.5251C>T p.R1751* Nonsense 19/23 - 120
17-41209093-T-G c.5253A>C p.R1751= Synonymous 19/23 - 3
17-41209095-G-T c.5251C>A p.R1751= Synonymous 19/23 - 10
17-41209093-T-C c.5253A>G p.R1751= Synonymous 19/23 - 3
17-41209093-T-A c.5253A>T p.R1751= Synonymous 19/23 - 3
17-41209095-G-C c.5251C>G p.R1751G Missense 19/23 - 14
17-41209096-C-T c.5250G>A p.K1750= Synonymous 19/23 - 1
17-41209096-C-G c.5250G>C p.K1750N Missense 19/23 - 4
17-41209096-C-A c.5250G>T p.K1750N Missense 19/23 - 5
17-41209096-GC-G c.5250del p.K1750Nfs*15 Frameshift 19/23 - 4
17-41209096-CT-GC c.5249_5250delinsGC p.K1750S Missense 19/23 - 1
17-41209097-T-G c.5249A>C p.K1750T Missense 19/23 - 5
17-41209097-T-C c.5249A>G p.K1750R Missense 19/23 - 6
17-41209097-T-A c.5249A>T p.K1750M Missense 19/23 - 5
17-41209097-T-TGA c.5248_5249insTC p.K1750Ifs*16 Frameshift 19/23 - 3
17-41209098-T-G c.5248A>C p.K1750Q Missense 19/23 - 5
17-41209098-T-C c.5248A>G p.K1750E Missense 19/23 - 5
17-41209098-T-A c.5248A>T p.K1750* Nonsense 19/23 - 2
17-41209098-T-TA c.5247_5248insT p.K1750* Nonsense 19/23 - 1
17-41209098-T-TGA c.5247_5248insTC p.K1750Sfs*16 Frameshift 19/23 - 3
17-41209099-T-C c.5247A>G p.P1749= Synonymous 19/23 - 1
17-41209099-T-A c.5247A>T p.P1749= Synonymous 19/23 - 1
17-41209099-T-G c.5247A>C p.P1749= Synonymous 19/23 - 1
17-41209096-C-CT c.5249dup p.R1751Afs*79 Frameshift 19/23 - 4
17-41209096-CT-C c.5249del p.K1750Sfs*15 Frameshift 19/23 - 3
17-41209100-G-C c.5246C>G p.P1749R Missense 19/23 - 44
17-41209100-G-T c.5246C>A p.P1749Q Missense 19/23 - 7
17-41209100-G-A c.5246C>T p.P1749L Missense 19/23 - 15
17-41209101-G-C c.5245C>G p.P1749A Missense 19/23 - 14
17-41209101-G-T c.5245C>A p.P1749T Missense 19/23 - 14
17-41209101-G-A c.5245C>T p.P1749S Missense 19/23 - 18
17-41209102-A-T c.5244T>A p.G1748= Synonymous 19/23 - 1
17-41209102-A-G c.5244T>C p.G1748= Synonymous 19/23 - 1
17-41209102-A-C c.5244T>G p.G1748= Synonymous 19/23 - 1
17-41209103-C-T c.5243G>A p.G1748D Missense 19/23 - 21
17-41209103-C-G c.5243G>C p.G1748A Missense 19/23 - 7
17-41209103-C-A c.5243G>T p.G1748V Missense 19/23 - 10
17-41209103-ACCTT-A c.5240_5243del p.Q1747Lfs*17 Frameshift 19/23 - 1
17-41209104-C-T c.5242G>A p.G1748S Missense 19/23 - 10
17-41209104-C-G c.5242G>C p.G1748R Missense 19/23 - 13
17-41209104-C-A c.5242G>T p.G1748C Missense 19/23 - 16
17-41209102-AC-A c.5243del p.G1748Vfs*17 Frameshift 19/23 - 4
17-41209105-T-G c.5241A>C p.Q1747H Missense 19/23 - 9
17-41209105-T-A c.5241A>T p.Q1747H Missense 19/23 - 7
17-41209105-T-C c.5241A>G p.Q1747= Synonymous 19/23 - 2
17-41209106-T-G c.5240A>C p.Q1747P Missense 19/23 - 6
17-41209106-T-C c.5240A>G p.Q1747R Missense 19/23 - 6
17-41209106-T-A c.5240A>T p.Q1747L Missense 19/23 - 7
17-41209104-CT-C c.5241del p.G1748Vfs*17 Frameshift 19/23 - 5
17-41209107-G-T c.5239C>A p.Q1747K Missense 19/23 - 7
17-41209107-G-C c.5239C>G p.Q1747E Missense 19/23 - 7
17-41209107-G-A c.5239C>T p.Q1747* Nonsense 19/23 - 16
17-41209107-G-GA c.5238_5239insT p.Q1747Sfs*83 Frameshift 19/23 - 1
17-41209108-G-T c.5238C>A p.H1746Q Missense 19/23 - 7
17-41209108-G-C c.5238C>G p.H1746Q Missense 19/23 - 11
17-41209108-G-A c.5238C>T p.H1746= Synonymous 19/23 - 2
17-41209106-TG-T c.5239del p.Q1747Kfs*18 Frameshift 19/23 - 5
17-41209108-GGTGGTTT-G c.5232_5238del p.R1744Sfs*19 Frameshift 19/23 - 2
17-41209106-T-TG c.5239dup p.Q1747Pfs*83 Frameshift 19/23 - 3
17-41209108-GTGGTTT-CTCGCTTTGGAC c.5232_5238delinsGTCCAAAGCGAG p.N1745Sfs*22 Frameshift 19/23 - 2
17-41209109-T-G c.5237A>C p.H1746P Missense 19/23 - 13
17-41209109-T-C c.5237A>G p.H1746R Missense 19/23 - 9
17-41209109-T-A c.5237A>T p.H1746L Missense 19/23 - 6
17-41209109-GT-G c.5237del p.H1746Pfs*19 Frameshift 19/23 - 3
17-41209110-G-T c.5236C>A p.H1746N Missense 19/23 - 17
17-41209110-G-C c.5236C>G p.H1746D Missense 19/23 - 16
17-41209110-G-A c.5236C>T p.H1746Y Missense 19/23 - 11
17-41209105-TTGG-T c.5238_5240del p.H1746del InFrameDeletion 19/23 - 1
17-41209108-GTGGTTTCT-G c.5230_5237del p.R1744Pfs*83 Frameshift 19/23 - 4
17-41209111-G-T c.5235C>A p.N1745K Missense 19/23 - 8
17-41209111-G-C c.5235C>G p.N1745K Missense 19/23 - 7
17-41209111-G-A c.5235C>T p.N1745= Synonymous 19/23 - 2
17-41209111-GGTT-G c.5233_5235del p.N1745del InFrameDeletion 19/23 - 1
17-41209111-GT-CC c.5234_5235delinsGG p.N1745R Missense 19/23 - 1
17-41209109-TG-T c.5236del p.H1746Tfs*19 Frameshift 19/23 - 4
17-41209112-T-G c.5234A>C p.N1745T Missense 19/23 - 6
17-41209112-T-C c.5234A>G p.N1745S Missense 19/23 - 12
17-41209112-T-A c.5234A>T p.N1745I Missense 19/23 - 6
17-41209113-T-G c.5233A>C p.N1745H Missense 19/23 - 7
17-41209113-T-C c.5233A>G p.N1745D Missense 19/23 - 7
17-41209113-T-A c.5233A>T p.N1745Y Missense 19/23 - 7
17-41209114-T-C c.5232A>G p.R1744= Synonymous 19/23 - 1
17-41209114-T-G c.5232A>C p.R1744S Missense 19/23 - 5
17-41209114-T-A c.5232A>T p.R1744S Missense 19/23 - 5
17-41209111-GT-G c.5234del p.N1745Tfs*20 Frameshift 19/23 - 2
17-41209111-G-GT c.5234dup p.N1745Kfs*85 Frameshift 19/23 - 3
17-41209115-C-T c.5231G>A p.R1744K Missense 19/23 - 12
17-41209115-C-G c.5231G>C p.R1744T Missense 19/23 - 6
17-41209115-C-A c.5231G>T p.R1744I Missense 19/23 - 6
17-41209115-CT-TC c.5230_5231delinsGA p.R1744E Missense 19/23 - 1
17-41209115-CT-GC c.5230_5231delinsGC p.R1744A Missense 19/23 - 1
17-41209115-TC-T c.5231del p.R1744Kfs*21 Frameshift 19/23 - 5
17-41209115-CT-TG c.5230_5231delinsCA p.R1744Q Missense 19/23 - 1
17-41209116-T-C c.5230A>G p.R1744G Missense 19/23 - 5
17-41209116-T-G c.5230A>C p.R1744= Synonymous 19/23 - 1
17-41209116-T-A c.5230A>T p.R1744* Nonsense 19/23 - 4
17-41209116-CTT-C c.5229_5230del p.R1744Kfs*85 Frameshift 19/23 - 7
17-41209117-T-G c.5229A>C p.G1743= Synonymous 19/23 - 2
17-41209117-T-C c.5229A>G p.G1743= Synonymous 19/23 - 2
17-41209117-T-A c.5229A>T p.G1743= Synonymous 19/23 - 2
17-41209117-TCC-ACA c.5227_5229delinsTGT p.G1743C Missense 19/23 - 2
17-41209115-CT-C c.5230del p.R1744Efs*21 Frameshift 19/23 - 3
17-41209118-C-T c.5228G>A p.G1743E Missense 19/23 - 9
17-41209118-C-G c.5228G>C p.G1743A Missense 19/23 - 9
17-41209118-C-A c.5228G>T p.G1743V Missense 19/23 - 8
17-41209119-C-T c.5227G>A p.G1743R Missense 19/23 - 10
17-41209119-C-G c.5227G>C p.G1743R Missense 19/23 - 9
17-41209119-C-A c.5227G>T p.G1743* Nonsense 19/23 - 2
17-41209117-TC-T c.5228del p.G1743Efs*22 Frameshift 19/23 - 1
17-41209120-A-T c.5226T>A p.N1742K Missense 19/23 - 6
17-41209120-A-C c.5226T>G p.N1742K Missense 19/23 - 6
17-41209120-A-G c.5226T>C p.N1742= Synonymous 19/23 - 1
17-41209120-CATT-C c.5224_5226del p.N1742del InFrameDeletion 19/23 - 1
17-41209121-T-G c.5225A>C p.N1742T Missense 19/23 - 5
17-41209121-T-C c.5225A>G p.N1742S Missense 19/23 - 12
17-41209121-T-A c.5225A>T p.N1742I Missense 19/23 - 6
17-41209121-TT-CC c.5224_5225delinsGG p.N1742G Missense 19/23 - 1
17-41209119-CATTG-C c.5223_5226del p.N1742Efs*22 Frameshift 19/23 - 1
17-41209122-T-G c.5224A>C p.N1742H Missense 19/23 - 4
17-41209122-T-C c.5224A>G p.N1742D Missense 19/23 - 5
17-41209122-T-A c.5224A>T p.N1742Y Missense 19/23 - 4
17-41209122-TTGACCA-T c.5219_5224del p.V1740_N1742delinsD MultiAAMissense 19/23 - 2
17-41209122-TTGAC-T c.5221_5224del p.V1741Mfs*23 Frameshift 19/23 - 5
17-41209123-G-T c.5223C>A p.V1741= Synonymous 19/23 - 1
17-41209123-G-C c.5223C>G p.V1741= Synonymous 19/23 - 1
17-41209123-G-A c.5223C>T p.V1741= Synonymous 19/23 - 2
17-41209124-A-T c.5222T>A p.V1741D Missense 19/23 - 6
17-41209124-A-G c.5222T>C p.V1741A Missense 19/23 - 8
17-41209124-A-C c.5222T>G p.V1741G Missense 19/23 - 11
17-41209125-C-T c.5221G>A p.V1741I Missense 19/23 - 10
17-41209125-C-G c.5221G>C p.V1741L Missense 19/23 - 4
17-41209125-C-A c.5221G>T p.V1741F Missense 19/23 - 4
17-41209125-ACC-A c.5220_5221del p.V1741Qfs*88 Frameshift 19/23 - 1
17-41209126-CAC-GAT c.5218_5220delinsATC p.V1740I Missense 19/23 - 1
17-41209126-CAC-GTT c.5218_5220delinsAAC p.V1740N Missense 19/23 - 1
17-41209126-C-A c.5220G>T p.V1740= Synonymous 19/23 - 1
17-41209127-A-G c.5219T>C p.V1740A Missense 19/23 - 10
17-41209127-A-C c.5219T>G p.V1740G Missense 19/23 - 9
17-41209127-A-T c.5219T>A p.V1740E Missense 19/23 - 6
17-41209128-C-G c.5218G>C p.V1740L Missense 19/23 - 9
17-41209128-C-T c.5218G>A p.V1740M Missense 19/23 - 8
17-41209128-C-A c.5218G>T p.V1740L Missense 19/23 - 8
17-41209128-AC-A c.5218del p.V1740Wfs*25 Frameshift 19/23 - 1
17-41209129-A-T c.5217T>A p.D1739E Missense 19/23 - 8
17-41209129-A-C c.5217T>G p.D1739E Missense 19/23 - 13
17-41209129-A-G c.5217T>C p.D1739= Synonymous 19/23 - 1
17-41209130-T-C c.5216A>G p.D1739G Missense 19/23 - 21
17-41209130-ATCTC-A c.5213_5216del p.G1738Vfs*26 Frameshift 19/23 - 2
17-41209130-T-A c.5216A>T p.D1739V Missense 19/23 - 23
17-41209130-T-G c.5216A>C p.D1739A Missense 19/23 - 7
17-41209131-C-T c.5215G>A p.D1739N Missense 19/23 - 14
17-41209131-C-G c.5215G>C p.D1739H Missense 19/23 - 11
17-41209131-C-A c.5215G>T p.D1739Y Missense 19/23 - 12
17-41209132-T-G c.5214A>C p.G1738= Synonymous 19/23 - 2
17-41209132-T-C c.5214A>G p.G1738= Synonymous 19/23 - 3
17-41209132-T-A c.5214A>T p.G1738= Synonymous 19/23 - 2
17-41209132-CT-C c.5214del p.D1739Mfs*26 Frameshift 19/23 - 1
17-41209129-ATC-A c.5215_5216del p.D1739Cfs*90 Frameshift 19/23 - 2
17-41209133-C-T c.5213G>A p.G1738E Missense 19/23 - 50
17-41209133-C-A c.5213G>T p.G1738V Missense 19/23 - 10
17-41209133-C-G c.5213G>C p.G1738A Missense 19/23 - 8
17-41209134-C-T c.5212G>A p.G1738R Missense 19/23 - 69
17-41209134-C-G c.5212G>C p.G1738R Missense 19/23 - 24
17-41209134-C-A c.5212G>T p.G1738* Nonsense 19/23 - 10
17-41209130-TCTC-T c.5213_5215del p.G1738del InFrameDeletion 19/23 - 6
17-41209132-TC-T c.5213del p.G1738Efs*27 Frameshift 19/23 - 5
17-41209135-T-C c.5211A>G p.R1737= Synonymous 19/23 - 5
17-41209135-T-G c.5211A>C p.R1737S Missense 19/23 - 8
17-41209135-T-A c.5211A>T p.R1737S Missense 19/23 - 8
17-41209135-TCT-CCA c.5209_5211delinsTGG p.R1737W Missense 19/23 - 2
17-41209135-T-TG c.5210_5211insC p.R1737Sfs*93 Frameshift 19/23 - 3
17-41209136-C-T c.5210G>A p.R1737K Missense 19/23 - 7
17-41209136-C-G c.5210G>C p.R1737T Missense 19/23 - 13
17-41209136-C-A c.5210G>T p.R1737I Missense 19/23 - 6
17-41209133-CCT-C c.5211_5212del p.G1738Rfs*91 Frameshift 19/23 - 7
17-41209136-CT-GG c.5209_5210delinsCC p.R1737P Missense 19/23 - 1
17-41209136-CT-TC c.5209_5210delinsGA p.R1737E Missense 19/23 - 1
17-41209136-C-CG c.5209_5210insC p.R1737Tfs*93 Frameshift 19/23 - 2
17-41209137-T-G c.5209A>C p.R1737= Synonymous 19/23 - 3
17-41209137-T-C c.5209A>G p.R1737G Missense 19/23 - 7
17-41209137-T-A c.5209A>T p.R1737* Nonsense 19/23 - 12
17-41209136-C-CT c.5209dup p.R1737Kfs*93 Frameshift 19/23 - 6
17-41209138-G-T c.5208C>A p.V1736= Synonymous 19/23 - 1
17-41209138-G-C c.5208C>G p.V1736= Synonymous 19/23 - 1
17-41209138-G-A c.5208C>T p.V1736= Synonymous 19/23 - 1
17-41209135-TCTGA-T c.5207_5210del p.V1736Efs*28 Frameshift 19/23 - 1
17-41209139-A-C c.5207T>G p.V1736G Missense 19/23 - 20
17-41209139-A-G c.5207T>C p.V1736A Missense 19/23 - 56
17-41209139-A-T c.5207T>A p.V1736D Missense 19/23 - 7
17-41209139-GA-G c.5207del p.V1736Afs*29 Frameshift 19/23 - 5
17-41209140-C-T c.5206G>A p.V1736I Missense 19/23 - 6
17-41209140-C-G c.5206G>C p.V1736L Missense 19/23 - 8
17-41209140-C-A c.5206G>T p.V1736F Missense 19/23 - 7
17-41209141-T-G c.5205A>C p.E1735D Missense 19/23 - 4
17-41209141-T-A c.5205A>T p.E1735D Missense 19/23 - 10
17-41209141-T-C c.5205A>G p.E1735= Synonymous 19/23 - 5
17-41209142-T-G c.5204A>C p.E1735A Missense 19/23 - 5
17-41209142-T-C c.5204A>G p.E1735G Missense 19/23 - 5
17-41209142-T-A c.5204A>T p.E1735V Missense 19/23 - 5
17-41209140-CT-C c.5205del p.V1736Sfs*29 Frameshift 19/23 - 5
17-41209143-C-T c.5203G>A p.E1735K Missense 19/23 - 14
17-41209143-C-G c.5203G>C p.E1735Q Missense 19/23 - 6
17-41209143-C-A c.5203G>T p.E1735* Nonsense 19/23 - 3
17-41209143-C-CTTA c.5202_5203insTAA p.F1734_E1735ins* InFrameInsertion 19/23 - 2
17-41209144-A-T c.5202T>A p.F1734L Missense 19/23 - 8
17-41209144-A-C c.5202T>G p.F1734L Missense 19/23 - 12
17-41209144-A-G c.5202T>C p.F1734= Synonymous 19/23 - 2
17-41209144-A-AG c.5201_5202insC p.E1735* Nonsense 19/23 - 3
17-41209145-A-G c.5201T>C p.F1734S Missense 19/23 - 15
17-41209145-A-T c.5201T>A p.F1734Y Missense 19/23 - 5
17-41209145-A-C c.5201T>G p.F1734C Missense 19/23 - 7
17-41209145-A-AG c.5200_5201insC p.F1734Sfs*2 Frameshift 19/23 - 4
17-41209146-A-T c.5200T>A p.F1734I Missense 19/23 - 10
17-41209146-A-G c.5200T>C p.F1734L Missense 19/23 - 12
17-41209146-A-C c.5200T>G p.F1734V Missense 19/23 - 5
17-41209143-CAA-C c.5201_5202del p.F1734* Frameshift 19/23 - 1
17-41209147-A-T c.5199T>A p.D1733E Missense 19/23 - 5
17-41209147-A-C c.5199T>G p.D1733E Missense 19/23 - 5
17-41209147-A-G c.5199T>C p.D1733= Synonymous 19/23 - 1
17-41209143-CA-C c.5202del p.F1734Lfs*31 Frameshift 19/23 - 7
17-41209148-T-C c.5198A>G p.D1733G Missense 19/23 - 27
17-41209148-T-G c.5198A>C p.D1733A Missense 19/23 - 5
17-41209148-T-A c.5198A>T p.D1733V Missense 19/23 - 12
17-41209148-TC-CG c.5197_5198delinsCG p.D1733R Missense 19/23 - 1
17-41209149-C-T c.5197G>A p.D1733N Missense 19/23 - 10
17-41209149-C-G c.5197G>C p.D1733H Missense 19/23 - 9
17-41209149-C-A c.5197G>T p.D1733Y Missense 19/23 - 8
17-41209146-AATC-A c.5197_5199del p.D1733del InFrameDeletion 19/23 - 1
17-41209150-A-T c.5196T>A p.H1732Q Missense 19/23 - 6
17-41209150-A-C c.5196T>G p.H1732Q Missense 19/23 - 5
17-41209150-A-G c.5196T>C p.H1732= Synonymous 19/23 - 1
17-41209150-CA-C c.5196del p.H1732Qfs*33 Frameshift 19/23 - 1
17-41209151-T-G c.5195A>C p.H1732P Missense 19/23 - 4
17-41209151-T-C c.5195A>G p.H1732R Missense 19/23 - 7
17-41209151-T-A c.5195A>T p.H1732L Missense 19/23 - 4
17-41209152-G-T c.5194C>A p.H1732N Missense 19/23 - 4
17-41209152-G-C c.5194C>G p.H1732D Missense 19/23 - 4
17-41209152-G-A c.5194C>T p.H1732Y Missense 19/23 - 5
17-41209151-T-TG c.5194dup p.H1732Pfs*2 SpliceAcceptorInsertion - - 1
17-41209152-TG-T c.5194del p.H1732Mfs*33 Frameshift 19/23 - 1
17-41209153-C-A c.5194-1G>T - IntronicSNV - 18/22 4
17-41209153-C-G c.5194-1G>C - IntronicSNV - 18/22 4
17-41209153-C-T c.5194-1G>A - IntronicSNV - 18/22 4
17-41209154-T-C c.5194-2A>G - IntronicSNV - 18/22 6
17-41209154-T-G c.5194-2A>C - IntronicSNV - 18/22 6
17-41209156-A-G c.5194-4T>C - IntronicSNV - 18/22 1
17-41209162-A-G c.5194-10T>C - IntronicSNV - 18/22 1
17-41209164-C-T c.5194-12G>A - IntronicSNV - 18/22 2
17-41209166-A-T c.5194-14T>A - IntronicSNV - 18/22 1
17-41209168-C-T c.5194-16G>A - IntronicSNV - 18/22 1
17-41209178-C-A c.5194-26G>T - IntronicSNV - 18/22 1
17-41209178-C-T c.5194-26G>A - IntronicSNV - 18/22 1
17-41209578-T-C c.5194-426A>G - IntronicSNV - 18/22 2
17-41209578-T-G c.5194-426A>C - IntronicSNV - 18/22 2
17-41209618-C-T c.5194-466G>A - IntronicSNV - 18/22 1
17-41210331-C-A c.5194-1179G>T - IntronicSNV - 18/22 1
17-41210396-A-C c.5194-1244T>G - IntronicSNV - 18/22 5
17-41210416-T-A c.5194-1264A>T - IntronicSNV - 18/22 2
17-41210416-T-C c.5194-1264A>G - IntronicSNV - 18/22 2
17-41210602-T-C c.5194-1450A>G - IntronicSNV - 18/22 1
17-41211653-A-G c.5194-2501T>C - IntronicSNV - 18/22 5
17-41211953-T-C c.5194-2801A>G - IntronicSNV - 18/22 1
17-41212169-C-T c.5194-3017G>A - IntronicSNV - 18/22 2
17-41212338-A-C c.5193+3012T>G - IntronicSNV - 18/22 2
17-41212547-C-T c.5193+2803G>A - IntronicSNV - 18/22 2
17-41212762-G-A c.5193+2588C>T - IntronicSNV - 18/22 2
17-41212805-C-T c.5193+2545G>A - IntronicSNV - 18/22 2
17-41213013-C-T c.5193+2337G>A - IntronicSNV - 18/22 1
17-41213150-ACCAAAATACAGAAATCAAAAAACCACACTCATTATTACCTCAAGACCTTTATGTTTGCT-A c.5193+2142_5193+2200del - Unclassified - 18/22 2
17-41213626-G-T c.5193+1724C>A - IntronicSNV - 18/22 2
17-41213660-T-C c.5193+1690A>G - IntronicSNV - 18/22 2
17-41213748-T-C c.5193+1602A>G - IntronicSNV - 18/22 4
17-41213748-T-G c.5193+1602A>C - IntronicSNV - 18/22 3
17-41213760-C-T c.5193+1590G>A - IntronicSNV - 18/22 3
17-41213893-C-T c.5193+1457G>A - IntronicSNV - 18/22 2
17-41213996-C-T c.5193+1354G>A - IntronicSNV - 18/22 7
17-41214079-T-C c.5193+1271A>G - IntronicSNV - 18/22 1
17-41214620-T-A c.5193+730A>T - IntronicSNV - 18/22 1
17-41215180-TATAGGTATGAGCCACAGTGCAGGCCTGCATAATTCTTGATGATCCTCATTATCATGGAA-T c.5193+111_5193+169del - Unclassified - 18/22 3
17-41215263-T-C c.5193+87A>G - IntronicSNV - 18/22 1
17-41215263-TG-T c.5193+86del - IntronicDeletion - 18/22 1
17-41215271-T-C c.5193+79A>G - IntronicSNV - 18/22 1
17-41215286-A-C c.5193+64T>G - IntronicSNV - 18/22 1
17-41215296-T-G c.5193+54A>C - IntronicSNV - 18/22 1
17-41215320-T-G c.5193+30A>C - IntronicSNV - 18/22 1
17-41215320-T-C c.5193+30A>G - IntronicSNV - 18/22 1
17-41215320-T-A c.5193+30A>T - IntronicSNV - 18/22 1
17-41215321-C-T c.5193+29G>A - IntronicSNV - 18/22 1
17-41215321-C-G c.5193+29G>C - IntronicSNV - 18/22 1
17-41215321-C-A c.5193+29G>T - IntronicSNV - 18/22 1
17-41215322-T-G c.5193+28A>C - IntronicSNV - 18/22 1
17-41215322-T-C c.5193+28A>G - IntronicSNV - 18/22 1
17-41215322-T-A c.5193+28A>T - IntronicSNV - 18/22 1
17-41215323-G-C c.5193+27C>G - IntronicSNV - 18/22 1
17-41215324-G-T c.5193+26C>A - IntronicSNV - 18/22 1
17-41215324-G-C c.5193+26C>G - IntronicSNV - 18/22 1
17-41215324-G-A c.5193+26C>T - IntronicSNV - 18/22 1
17-41215325-T-G c.5193+25A>C - IntronicSNV - 18/22 1
17-41215325-T-C c.5193+25A>G - IntronicSNV - 18/22 1
17-41215325-T-A c.5193+25A>T - IntronicSNV - 18/22 1
17-41215326-T-G c.5193+24A>C - IntronicSNV - 18/22 1
17-41215326-T-C c.5193+24A>G - IntronicSNV - 18/22 1
17-41215326-T-A c.5193+24A>T - IntronicSNV - 18/22 1
17-41215327-A-T c.5193+23T>A - IntronicSNV - 18/22 1
17-41215327-A-G c.5193+23T>C - IntronicSNV - 18/22 1
17-41215327-A-C c.5193+23T>G - IntronicSNV - 18/22 1
17-41215328-G-A c.5193+22C>T - IntronicSNV - 18/22 2
17-41215328-G-T c.5193+22C>A - IntronicSNV - 18/22 1
17-41215328-G-C c.5193+22C>G - IntronicSNV - 18/22 1
17-41215329-T-G c.5193+21A>C - IntronicSNV - 18/22 1
17-41215329-T-C c.5193+21A>G - IntronicSNV - 18/22 1
17-41215329-T-A c.5193+21A>T - IntronicSNV - 18/22 1
17-41215330-T-G c.5193+20A>C - IntronicSNV - 18/22 1
17-41215330-T-C c.5193+20A>G - IntronicSNV - 18/22 1
17-41215330-T-A c.5193+20A>T - IntronicSNV - 18/22 1
17-41215331-T-G c.5193+19A>C - IntronicSNV - 18/22 1
17-41215331-T-C c.5193+19A>G - IntronicSNV - 18/22 2
17-41215331-T-A c.5193+19A>T - IntronicSNV - 18/22 1
17-41215332-G-T c.5193+18C>A - IntronicSNV - 18/22 1
17-41215332-G-C c.5193+18C>G - IntronicSNV - 18/22 1
17-41215332-G-A c.5193+18C>T - IntronicSNV - 18/22 1
17-41215333-T-G c.5193+17A>C - IntronicSNV - 18/22 1
17-41215333-T-C c.5193+17A>G - IntronicSNV - 18/22 1
17-41215333-T-A c.5193+17A>T - IntronicSNV - 18/22 1
17-41215334-A-T c.5193+16T>A - IntronicSNV - 18/22 1
17-41215334-A-G c.5193+16T>C - IntronicSNV - 18/22 1
17-41215334-A-C c.5193+16T>G - IntronicSNV - 18/22 1
17-41215335-A-T c.5193+15T>A - IntronicSNV - 18/22 1
17-41215335-A-G c.5193+15T>C - IntronicSNV - 18/22 1
17-41215335-A-C c.5193+15T>G - IntronicSNV - 18/22 1
17-41215336-C-T c.5193+14G>A - IntronicSNV - 18/22 1
17-41215336-C-G c.5193+14G>C - IntronicSNV - 18/22 1
17-41215336-C-A c.5193+14G>T - IntronicSNV - 18/22 1
17-41215337-A-G c.5193+13T>C - IntronicSNV - 18/22 1
17-41215337-A-C c.5193+13T>G - IntronicSNV - 18/22 1
17-41215337-A-T c.5193+13T>A - IntronicSNV - 18/22 1
17-41215334-AACATCAAGTACTT-A c.5193+3_5193+15del - IntronicDeletion - 18/22 5
17-41215338-T-A c.5193+12A>T - IntronicSNV - 18/22 1
17-41215338-T-G c.5193+12A>C - IntronicSNV - 18/22 1
17-41215338-T-C c.5193+12A>G - IntronicSNV - 18/22 1
17-41215339-C-T c.5193+11G>A - IntronicSNV - 18/22 1
17-41215339-C-G c.5193+11G>C - IntronicSNV - 18/22 1
17-41215339-C-A c.5193+11G>T - IntronicSNV - 18/22 2
17-41215339-TC-T c.5193+11del - IntronicDeletion - 18/22 1
17-41215340-A-T c.5193+10T>A - IntronicSNV - 18/22 1
17-41215340-A-G c.5193+10T>C - IntronicSNV - 18/22 2
17-41215340-A-C c.5193+10T>G - IntronicSNV - 18/22 1
17-41215341-A-T c.5193+9T>A - IntronicSNV - 18/22 1
17-41215341-A-G c.5193+9T>C - IntronicSNV - 18/22 1
17-41215341-A-C c.5193+9T>G - IntronicSNV - 18/22 1
17-41215342-G-T c.5193+8C>A - IntronicSNV - 18/22 1
17-41215342-G-C c.5193+8C>G - IntronicSNV - 18/22 1
17-41215342-G-A c.5193+8C>T - IntronicSNV - 18/22 1
17-41215343-T-G c.5193+7A>C - IntronicSNV - 18/22 1
17-41215343-T-C c.5193+7A>G - IntronicSNV - 18/22 2
17-41215343-T-A c.5193+7A>T - IntronicSNV - 18/22 1
17-41215344-A-T c.5193+6T>A - IntronicSNV - 18/22 2
17-41215344-A-G c.5193+6T>C - IntronicSNV - 18/22 2
17-41215344-A-C c.5193+6T>G - IntronicSNV - 18/22 1
17-41215345-C-T c.5193+5G>A - IntronicSNV - 18/22 1
17-41215345-C-G c.5193+5G>C - IntronicSNV - 18/22 1
17-41215345-C-A c.5193+5G>T - IntronicSNV - 18/22 1
17-41215346-T-G c.5193+4A>C - IntronicSNV - 18/22 1
17-41215346-T-C c.5193+4A>G - IntronicSNV - 18/22 1
17-41215346-T-A c.5193+4A>T - IntronicSNV - 18/22 1
17-41215347-T-G c.5193+3A>C - IntronicSNV - 18/22 1
17-41215347-T-C c.5193+3A>G - IntronicSNV - 18/22 2
17-41215347-T-A c.5193+3A>T - IntronicSNV - 18/22 1
17-41215348-A-T c.5193+2T>A - IntronicSNV - 18/22 1
17-41215348-A-G c.5193+2T>C - IntronicSNV - 18/22 1
17-41215348-A-C c.5193+2T>G - IntronicSNV - 18/22 7
17-41215348-TA-T c.5193+2del - IntronicDeletion - 18/22 11
17-41215347-T-TA c.5193+2dup - SpliceDonorInsertion - 18/22 1
17-41215348-TAC-T c.5193+1_5193+2del - SpliceDonorDeletion - 18/22 1
17-41215349-C-T c.5193+1G>A - IntronicSNV - 18/22 12
17-41215349-C-G c.5193+1G>C - IntronicSNV - 18/22 11
17-41215349-C-A c.5193+1G>T - IntronicSNV - 18/22 12
17-41215350-C-T c.5193G>A p.E1731= Synonymous 18/23 - 2
17-41215350-C-G c.5193G>C p.E1731D Missense 18/23 - 6
17-41215350-C-A c.5193G>T p.E1731D Missense 18/23 - 6
17-41215348-AC-A c.5193+1del - IntronicDeletion 18/23 - 7
17-41215351-T-C c.5192A>G p.E1731G Missense 18/23 - 7
17-41215351-T-G c.5192A>C p.E1731A Missense 18/23 - 4
17-41215351-T-A c.5192A>T p.E1731V Missense 18/23 - 5
17-41215352-C-T c.5191G>A p.E1731K Missense 18/23 - 13
17-41215352-C-G c.5191G>C p.E1731Q Missense 18/23 - 5
17-41215352-C-A c.5191G>T p.E1731* Nonsense 18/23 - 7
17-41215351-T-TC c.5191dup p.E1731Gfs*3 SpliceDonorInsertion 18/23 - 1
17-41215353-A-T c.5190T>A p.N1730K Missense 18/23 - 4
17-41215353-A-C c.5190T>G p.N1730K Missense 18/23 - 4
17-41215353-A-G c.5190T>C p.N1730= Synonymous 18/23 - 1
17-41215352-C-CA c.5190dup p.E1731* Nonsense 18/23 - 1
17-41215350-CTCATTCAGCATTTT-C c.5179_5192del p.K1727Afs*2 SpliceDonorDeletion 18/23 - 3
17-41215354-T-C c.5189A>G p.N1730S Missense 18/23 - 16
17-41215354-T-G c.5189A>C p.N1730T Missense 18/23 - 4
17-41215354-T-A c.5189A>T p.N1730I Missense 18/23 - 9
17-41215355-T-G c.5188A>C p.N1730H Missense 18/23 - 4
17-41215355-T-C c.5188A>G p.N1730D Missense 18/23 - 4
17-41215355-T-A c.5188A>T p.N1730Y Missense 18/23 - 4
17-41215353-A-AT c.5189dup p.N1730Kfs*2 Frameshift 18/23 - 1
17-41215356-C-T c.5187G>A p.L1729= Synonymous 18/23 - 2
17-41215356-C-G c.5187G>C p.L1729= Synonymous 18/23 - 3
17-41215356-C-A c.5187G>T p.L1729= Synonymous 18/23 - 2
17-41215357-A-T c.5186T>A p.L1729Q Missense 18/23 - 15
17-41215357-A-G c.5186T>C p.L1729P Missense 18/23 - 5
17-41215357-A-C c.5186T>G p.L1729R Missense 18/23 - 5
17-41215357-CA-C c.5186del p.L1729Rfs*36 Frameshift 18/23 - 6
17-41215358-G-T c.5185C>A p.L1729M Missense 18/23 - 6
17-41215358-G-C c.5185C>G p.L1729V Missense 18/23 - 6
17-41215358-G-A c.5185C>T p.L1729= Synonymous 18/23 - 2
17-41215359-C-T c.5184G>A p.M1728I Missense 18/23 - 7
17-41215359-C-G c.5184G>C p.M1728I Missense 18/23 - 6
17-41215359-C-A c.5184G>T p.M1728I Missense 18/23 - 6
17-41215359-GC-G c.5184del p.M1728Ifs*2 Frameshift 18/23 - 1
17-41215360-A-T c.5183T>A p.M1728K Missense 18/23 - 8
17-41215360-A-G c.5183T>C p.M1728T Missense 18/23 - 6
17-41215360-A-C c.5183T>G p.M1728R Missense 18/23 - 9
17-41215360-CATT-C c.5181_5183del p.M1728del InFrameDeletion 18/23 - 1
17-41215360-CAT-C c.5182_5183del p.M1728Afs*3 Frameshift 18/23 - 1
17-41215361-T-G c.5182A>C p.M1728L Missense 18/23 - 5
17-41215361-T-A c.5182A>T p.M1728L Missense 18/23 - 5
17-41215361-T-C c.5182A>G p.M1728V Missense 18/23 - 6
17-41215362-T-G c.5181A>C p.K1727N Missense 18/23 - 5
17-41215362-T-A c.5181A>T p.K1727N Missense 18/23 - 5
17-41215362-T-C c.5181A>G p.K1727= Synonymous 18/23 - 1
17-41215362-TTT-ATA c.5179_5181delinsTAT p.K1727Y Missense 18/23 - 1
17-41215363-T-G c.5180A>C p.K1727T Missense 18/23 - 5
17-41215363-T-C c.5180A>G p.K1727R Missense 18/23 - 5
17-41215363-T-A c.5180A>T p.K1727I Missense 18/23 - 5
17-41215364-T-G c.5179A>C p.K1727Q Missense 18/23 - 10
17-41215364-T-C c.5179A>G p.K1727E Missense 18/23 - 5
17-41215364-T-A c.5179A>T p.K1727* Nonsense 18/23 - 20
17-41215360-ATT-A c.5181_5182del p.K1727Nfs*4 Frameshift 18/23 - 3
17-41215365-T-C c.5178A>G p.R1726= Synonymous 18/23 - 1
17-41215365-T-G c.5178A>C p.R1726S Missense 18/23 - 5
17-41215365-T-A c.5178A>T p.R1726S Missense 18/23 - 5
17-41215360-AT-A c.5182del p.M1728Cfs*2 Frameshift 18/23 - 5
17-41215360-A-AT c.5182dup p.M1728Nfs*4 Frameshift 18/23 - 3
17-41215366-C-T c.5177G>A p.R1726K Missense 18/23 - 10
17-41215366-C-G c.5177G>C p.R1726T Missense 18/23 - 11
17-41215366-C-A c.5177G>T p.R1726I Missense 18/23 - 12
17-41215364-TTC-T c.5177_5178del p.R1726Kfs*5 Frameshift 18/23 - 7
17-41215367-T-C c.5176A>G p.R1726G Missense 18/23 - 16
17-41215367-T-G c.5176A>C p.R1726= Synonymous 18/23 - 1
17-41215367-T-A c.5176A>T p.R1726* Nonsense 18/23 - 6
17-41215367-T-TA c.5175_5176insT p.R1726* Nonsense 18/23 - 2
17-41215368-T-C c.5175A>G p.E1725= Synonymous 18/23 - 11
17-41215368-T-G c.5175A>C p.E1725D Missense 18/23 - 9
17-41215368-T-A c.5175A>T p.E1725D Missense 18/23 - 5
17-41215369-T-G c.5174A>C p.E1725A Missense 18/23 - 5
17-41215369-T-C c.5174A>G p.E1725G Missense 18/23 - 5
17-41215369-T-A c.5174A>T p.E1725V Missense 18/23 - 5
17-41215366-C-CT c.5176dup p.R1726Kfs*6 Frameshift 18/23 - 4
17-41215366-CT-C c.5176del p.R1726Efs*4 Frameshift 18/23 - 4
17-41215369-TC-CT c.5173_5174delinsAG p.E1725R Missense 18/23 - 1
17-41215362-TTTTC-T c.5177_5180del p.R1726Kfs*3 Frameshift 18/23 - 44
17-41215370-C-T c.5173G>A p.E1725K Missense 18/23 - 5
17-41215370-C-G c.5173G>C p.E1725Q Missense 18/23 - 5
17-41215370-C-A c.5173G>T p.E1725* Nonsense 18/23 - 8
17-41215371-T-G c.5172A>C p.K1724N Missense 18/23 - 9
17-41215371-T-A c.5172A>T p.K1724N Missense 18/23 - 6
17-41215371-T-C c.5172A>G p.K1724= Synonymous 18/23 - 3
17-41215371-TTT-ATG c.5170_5172delinsCAT p.K1724H Missense 18/23 - 1
17-41215372-T-G c.5171A>C p.K1724T Missense 18/23 - 5
17-41215372-T-C c.5171A>G p.K1724R Missense 18/23 - 5
17-41215372-T-A c.5171A>T p.K1724I Missense 18/23 - 5
17-41215373-T-G c.5170A>C p.K1724Q Missense 18/23 - 5
17-41215373-T-C c.5170A>G p.K1724E Missense 18/23 - 6
17-41215373-T-A c.5170A>T p.K1724* Nonsense 18/23 - 2
17-41215370-C-CT c.5172dup p.E1725Rfs*7 Frameshift 18/23 - 6
17-41215373-TTA-T c.5169_5170del p.K1724Rfs*7 Frameshift 18/23 - 1
17-41215374-A-T c.5169T>A p.I1723= Synonymous 18/23 - 1
17-41215374-A-G c.5169T>C p.I1723= Synonymous 18/23 - 1
17-41215374-A-C c.5169T>G p.I1723M Missense 18/23 - 5
17-41215375-A-T c.5168T>A p.I1723N Missense 18/23 - 10
17-41215375-A-G c.5168T>C p.I1723T Missense 18/23 - 9
17-41215375-A-C c.5168T>G p.I1723S Missense 18/23 - 5
17-41215373-TA-T c.5169del p.E1725Kfs*5 Frameshift 18/23 - 1
17-41215376-T-G c.5167A>C p.I1723L Missense 18/23 - 7
17-41215376-T-C c.5167A>G p.I1723V Missense 18/23 - 11
17-41215376-T-A c.5167A>T p.I1723F Missense 18/23 - 6
17-41215376-T-AAA c.5167delinsTTT p.I1723Ffs*8 Frameshift 18/23 - 4
17-41215377-A-T c.5166T>A p.S1722= Synonymous 18/23 - 1
17-41215377-A-G c.5166T>C p.S1722= Synonymous 18/23 - 1
17-41215377-A-C c.5166T>G p.S1722= Synonymous 18/23 - 1
17-41215378-G-A c.5165C>T p.S1722F Missense 18/23 - 31
17-41215378-G-T c.5165C>A p.S1722Y Missense 18/23 - 12
17-41215378-G-C c.5165C>G p.S1722C Missense 18/23 - 4
17-41215377-A-AG c.5165dup p.I1723Yfs*2 Frameshift 18/23 - 3
17-41215379-A-G c.5164T>C p.S1722P Missense 18/23 - 17
17-41215379-A-T c.5164T>A p.S1722T Missense 18/23 - 4
17-41215379-A-C c.5164T>G p.S1722A Missense 18/23 - 6
17-41215377-AGACT-A c.5162_5165del p.Q1721Lfs*8 Frameshift 18/23 - 3
17-41215377-AGACTG-A c.5161_5165del p.Q1721Yfs*2 Frameshift 18/23 - 4
17-41215379-GA-G c.5164del p.S1722Lfs*8 Frameshift 18/23 - 1
17-41215379-A-AG c.5163_5164insC p.S1722Lfs*3 Frameshift 18/23 - 3
17-41215380-C-T c.5163G>A p.Q1721= Synonymous 18/23 - 2
17-41215380-C-G c.5163G>C p.Q1721H Missense 18/23 - 5
17-41215380-C-A c.5163G>T p.Q1721H Missense 18/23 - 5
17-41215380-ACTG-A c.5161_5163del p.Q1721del InFrameDeletion 18/23 - 5
17-41215381-T-G c.5162A>C p.Q1721P Missense 18/23 - 7
17-41215381-T-C c.5162A>G p.Q1721R Missense 18/23 - 6
17-41215381-T-A c.5162A>T p.Q1721L Missense 18/23 - 6
17-41215381-CT-C c.5162del p.Q1721Rfs*9 Frameshift 18/23 - 3
17-41215381-TG-GA c.5161_5162delinsTC p.Q1721S Missense 18/23 - 1
17-41215382-G-A c.5161C>T p.Q1721* Nonsense 18/23 - 23
17-41215382-G-T c.5161C>A p.Q1721K Missense 18/23 - 5
17-41215382-G-C c.5161C>G p.Q1721E Missense 18/23 - 12
17-41215381-TGG-T c.5160_5161del p.Q1721Vfs*3 Frameshift 18/23 - 1
17-41215383-G-T c.5160C>A p.T1720= Synonymous 18/23 - 1
17-41215381-TG-T c.5161del p.Q1721Sfs*9 Frameshift 18/23 - 3
17-41215384-G-A c.5159C>T p.T1720I Missense 18/23 - 5
17-41215384-GTCAC-TTT c.5155_5159delinsAAA p.V1719Kfs*5 Frameshift 18/23 - 1
17-41215384-G-C c.5159C>G p.T1720S Missense 18/23 - 3
17-41215384-G-T c.5159C>A p.T1720N Missense 18/23 - 3
17-41215385-T-C c.5158A>G p.T1720A Missense 18/23 - 38
17-41215385-T-A c.5158A>T p.T1720S Missense 18/23 - 7
17-41215385-T-G c.5158A>C p.T1720P Missense 18/23 - 3
17-41215384-G-GTCAC c.5155_5158dup p.T1720Sfs*6 SpliceAcceptorInsertion 18/23 - 1
17-41215386-C-G c.5157G>C p.V1719= Synonymous 18/23 - 1
17-41215386-C-T c.5157G>A p.V1719= Synonymous 18/23 - 2
17-41215386-C-A c.5157G>T p.V1719= Synonymous 18/23 - 4
17-41215386-C-CTATT c.5156_5157insAATA p.T1720Ifs*6 Frameshift 18/23 - 3
17-41215386-CAC-GAT c.5155_5157delinsATC p.V1719I Missense 18/23 - 1
17-41215387-A-T c.5156T>A p.V1719E Missense 18/23 - 7
17-41215387-A-G c.5156T>C p.V1719A Missense 18/23 - 10
17-41215387-A-C c.5156T>G p.V1719G Missense 18/23 - 10
17-41215387-CA-C c.5156del p.V1719Gfs*11 Frameshift 18/23 - 6
17-41215385-TCA-T c.5156_5157del p.V1719Dfs*5 Frameshift 18/23 - 5
17-41215388-C-T c.5155G>A p.V1719M Missense 18/23 - 7
17-41215388-C-G c.5155G>C p.V1719L Missense 18/23 - 6
17-41215388-C-A c.5155G>T p.V1719L Missense 18/23 - 14
17-41215389-C-A c.5154G>T p.W1718C Missense 18/23 - 33
17-41215389-C-G c.5154G>C p.W1718C Missense 18/23 - 12
17-41215389-C-T c.5154G>A p.W1718* Nonsense 18/23 - 26
17-41215390-C-G c.5153G>C p.W1718S Missense 18/23 - 27
17-41215390-C-A c.5153G>T p.W1718L Missense 18/23 - 13
17-41215390-C-T c.5153G>A p.W1718* Nonsense 18/23 - 18
17-41215391-C-A c.5153-1G>T - IntronicSNV - 17/22 3
17-41215391-C-G c.5153-1G>C - IntronicSNV - 17/22 3
17-41215391-C-T c.5153-1G>A - IntronicSNV - 17/22 3
17-41215387-A-AC c.5155dup - SpliceAcceptorInsertion - 17/22 1
17-41215392-T-C c.5153-2A>G - IntronicSNV - 17/22 3
17-41215393-A-G c.5153-3T>C - IntronicSNV - 17/22 1
17-41215396-G-A c.5153-6C>T - IntronicSNV - 17/22 1
17-41215396-G-T c.5153-6C>A - IntronicSNV - 17/22 1
17-41215398-G-T c.5153-8C>A - IntronicSNV - 17/22 1
17-41215401-C-A c.5153-11G>T - IntronicSNV - 17/22 1
17-41215401-C-T c.5153-11G>A - IntronicSNV - 17/22 1
17-41215402-A-T c.5153-12T>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 3
17-41215434-C-T c.5153-44G>A - IntronicSNV - 17/22 1
17-41215645-GC-G c.5152+246del - IntronicDeletion - 17/22 1
17-41215797-A-C c.5152+94T>G - IntronicSNV - 17/22 1
17-41215805-CA-C c.5152+85del - IntronicDeletion - 17/22 5
17-41215810-AC-A c.5152+80del - IntronicDeletion - 17/22 1
17-41215819-G-C c.5152+72C>G - IntronicSNV - 17/22 1
17-41215825-C-T c.5152+66G>A - IntronicSNV - 17/22 40
17-41215826-G-A c.5152+65C>T - IntronicSNV - 17/22 1
17-41215829-A-G c.5152+62T>C - IntronicSNV - 17/22 1
17-41215834-T-C c.5152+57A>G - IntronicSNV - 17/22 1
17-41215857-TAAAG-T c.5152+31_5152+34del - IntronicDeletion - 17/22 1
17-41215868-G-A c.5152+23C>T - IntronicSNV - 17/22 1
17-41215871-A-T c.5152+20T>A - IntronicSNV - 17/22 7
17-41215876-T-C c.5152+15A>G - IntronicSNV - 17/22 1
17-41215877-A-T c.5152+14T>A - IntronicSNV - 17/22 1
17-41215878-G-A c.5152+13C>T - IntronicSNV - 17/22 1
17-41215881-T-C c.5152+10A>G - IntronicSNV - 17/22 4
17-41215881-T-G c.5152+10A>C - IntronicSNV - 17/22 1
17-41215881-T-A c.5152+10A>T - IntronicSNV - 17/22 1
17-41215882-T-G c.5152+9A>C - IntronicSNV - 17/22 2
17-41215882-T-C c.5152+9A>G - IntronicSNV - 17/22 1
17-41215882-T-A c.5152+9A>T - IntronicSNV - 17/22 2
17-41215883-A-T c.5152+8T>A - IntronicSNV - 17/22 1
17-41215883-A-G c.5152+8T>C - IntronicSNV - 17/22 1
17-41215883-A-C c.5152+8T>G - IntronicSNV - 17/22 1
17-41215884-T-C c.5152+7A>G - IntronicSNV - 17/22 4
17-41215884-T-G c.5152+7A>C - IntronicSNV - 17/22 1
17-41215884-T-A c.5152+7A>T - IntronicSNV - 17/22 1
17-41215885-A-T c.5152+6T>A - IntronicSNV - 17/22 1
17-41215885-A-G c.5152+6T>C - IntronicSNV - 17/22 6
17-41215885-A-C c.5152+6T>G - IntronicSNV - 17/22 5
17-41215886-C-T c.5152+5G>A - IntronicSNV - 17/22 15
17-41215886-C-G c.5152+5G>C - IntronicSNV - 17/22 9
17-41215886-C-A c.5152+5G>T - IntronicSNV - 17/22 6
17-41215887-T-G c.5152+4A>C - IntronicSNV - 17/22 1
17-41215887-T-C c.5152+4A>G - IntronicSNV - 17/22 3
17-41215887-T-A c.5152+4A>T - IntronicSNV - 17/22 1
17-41215888-T-G c.5152+3A>C - IntronicSNV - 17/22 6
17-41215888-T-C c.5152+3A>G - IntronicSNV - 17/22 1
17-41215888-T-A c.5152+3A>T - IntronicSNV - 17/22 1
17-41215888-T-TA c.5152+2dup - SpliceDonorInsertion - 17/22 12
17-41215889-A-T c.5152+2T>A - IntronicSNV - 17/22 4
17-41215889-A-G c.5152+2T>C - IntronicSNV - 17/22 5
17-41215889-A-C c.5152+2T>G - IntronicSNV - 17/22 5
17-41215890-C-T c.5152+1G>A - IntronicSNV - 17/22 13
17-41215890-C-G c.5152+1G>C - IntronicSNV - 17/22 16
17-41215890-C-A c.5152+1G>T - IntronicSNV - 17/22 16
17-41215891-A-T c.5152T>A p.W1718R Missense 17/23 - 5
17-41215891-A-G c.5152T>C p.W1718R Missense 17/23 - 6
17-41215891-A-C c.5152T>G p.W1718G Missense 17/23 - 9
17-41215891-CAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGT-C c.5094_5152del p.R1699Gfs*6 Unclassified 17/23 - 9
17-41215891-A-ACT c.5151_5152insAG p.W1718Sfs*3 SpliceDonorInsertion 17/23 - 1
17-41215890-C-CA c.5152dup p.W1718Lfs*7 SpliceDonorInsertion 17/23 - 1
17-41215891-A-AC c.5151_5152insG p.W1718Vfs*7 SpliceDonorInsertion 17/23 - 1
17-41215891-A-AT c.5151_5152insA p.W1718Mfs*7 SpliceDonorInsertion 17/23 - 1
17-41215892-G-T c.5151C>A p.F1717L Missense 17/23 - 4
17-41215892-G-C c.5151C>G p.F1717L Missense 17/23 - 4
17-41215892-G-A c.5151C>T p.F1717= Synonymous 17/23 - 1
17-41215891-A-AG c.5151dup p.W1718Lfs*7 SpliceDonorInsertion 17/23 - 1
17-41215893-A-T c.5150T>A p.F1717Y Missense 17/23 - 6
17-41215893-A-G c.5150T>C p.F1717S Missense 17/23 - 5
17-41215893-A-C c.5150T>G p.F1717C Missense 17/23 - 5
17-41215894-A-T c.5149T>A p.F1717I Missense 17/23 - 5
17-41215894-A-G c.5149T>C p.F1717L Missense 17/23 - 5
17-41215894-A-C c.5149T>G p.F1717V Missense 17/23 - 5
17-41215892-GAAAT-G c.5147_5150del p.Y1716Sfs*3 Frameshift 17/23 - 3
17-41215894-A-AG c.5148_5149insC p.F1717Lfs*8 Frameshift 17/23 - 3
17-41215895-A-T c.5148T>A p.Y1716* Nonsense 17/23 - 7
17-41215895-A-C c.5148T>G p.Y1716* Nonsense 17/23 - 9
17-41215895-A-G c.5148T>C p.Y1716= Synonymous 17/23 - 2
17-41215895-ATA-CTT c.5146_5148delinsAAG p.Y1716K Missense 17/23 - 1
17-41215892-GA-G c.5150del p.F1717Sfs*3 Frameshift 17/23 - 5
17-41215895-ATA-TTT c.5146_5148delinsAAA p.Y1716K Missense 17/23 - 1
17-41215895-A-AG c.5147_5148insC p.W1718Lfs*7 Frameshift 17/23 - 2
17-41215896-T-G c.5147A>C p.Y1716S Missense 17/23 - 9
17-41215896-T-C c.5147A>G p.Y1716C Missense 17/23 - 12
17-41215896-T-A c.5147A>T p.Y1716F Missense 17/23 - 4
17-41215897-A-T c.5146T>A p.Y1716N Missense 17/23 - 5
17-41215897-A-G c.5146T>C p.Y1716H Missense 17/23 - 7
17-41215897-A-C c.5146T>G p.Y1716D Missense 17/23 - 4
17-41215898-G-C c.5145C>G p.S1715R Missense 17/23 - 30
17-41215898-G-T c.5145C>A p.S1715R Missense 17/23 - 30
17-41215900-T-G c.5143A>C p.S1715R Missense 17/23 - 39
17-41215898-G-A c.5145C>T p.S1715= Synonymous 17/23 - 1
17-41215898-AG-A c.5145del p.Y1716Ifs*4 Frameshift 17/23 - 5
17-41215899-C-T c.5144G>A p.S1715N Missense 17/23 - 32
17-41215899-C-G c.5144G>C p.S1715T Missense 17/23 - 6
17-41215899-C-A c.5144G>T p.S1715I Missense 17/23 - 8
17-41215900-T-A c.5143A>T p.S1715C Missense 17/23 - 24
17-41215900-T-C c.5143A>G p.S1715G Missense 17/23 - 5
17-41215900-CT-C c.5143del p.S1715Afs*5 Frameshift 17/23 - 1
17-41215901-A-T c.5142T>A p.V1714= Synonymous 17/23 - 1
17-41215901-A-G c.5142T>C p.V1714= Synonymous 17/23 - 1
17-41215901-A-C c.5142T>G p.V1714= Synonymous 17/23 - 1
17-41215902-A-C c.5141T>G p.V1714G Missense 17/23 - 23
17-41215902-A-T c.5141T>A p.V1714D Missense 17/23 - 6
17-41215902-A-G c.5141T>C p.V1714A Missense 17/23 - 10
17-41215898-GCTAA-G c.5141_5144del p.V1714Afs*5 Frameshift 17/23 - 1
17-41215900-TA-T c.5142del p.S1715Afs*5 Frameshift 17/23 - 1
17-41215903-C-T c.5140G>A p.V1714I Missense 17/23 - 6
17-41215903-C-G c.5140G>C p.V1714L Missense 17/23 - 6
17-41215903-C-A c.5140G>T p.V1714F Missense 17/23 - 11
17-41215904-T-G c.5139A>C p.V1713= Synonymous 17/23 - 2
17-41215904-T-C c.5139A>G p.V1713= Synonymous 17/23 - 2
17-41215904-T-A c.5139A>T p.V1713= Synonymous 17/23 - 2
17-41215905-A-G c.5138T>C p.V1713A Missense 17/23 - 24
17-41215905-A-T c.5138T>A p.V1713E Missense 17/23 - 5
17-41215905-A-C c.5138T>G p.V1713G Missense 17/23 - 8
17-41215905-AC-TA c.5137_5138delinsTA p.V1713* Nonsense 17/23 - 2
17-41215905-TA-T c.5138del p.V1713Efs*7 Frameshift 17/23 - 2
17-41215903-CTACCCA-C c.5134_5139del p.W1712_V1713del InFrameDeletion 17/23 - 1
17-41215906-C-A c.5137G>T p.V1713L Missense 17/23 - 10
17-41215906-C-T c.5137G>A p.V1713I Missense 17/23 - 14
17-41215906-C-G c.5137G>C p.V1713L Missense 17/23 - 7
17-41215906-C-CTTA c.5136_5137insTAA p.W1712_V1713ins* InFrameInsertion 17/23 - 2
17-41215907-C-T c.5136G>A p.W1712* Nonsense 17/23 - 21
17-41215907-C-G c.5136G>C p.W1712C Missense 17/23 - 5
17-41215907-C-A c.5136G>T p.W1712C Missense 17/23 - 5
17-41215908-C-T c.5135G>A p.W1712* Nonsense 17/23 - 14
17-41215908-C-G c.5135G>C p.W1712S Missense 17/23 - 5
17-41215908-C-A c.5135G>T p.W1712L Missense 17/23 - 5
17-41215905-AC-A c.5137del p.V1713* Frameshift 17/23 - 19
17-41215905-A-AC c.5137dup p.V1713Gfs*3 Frameshift 17/23 - 3
17-41215909-A-T c.5134T>A p.W1712R Missense 17/23 - 5
17-41215909-A-G c.5134T>C p.W1712R Missense 17/23 - 5
17-41215909-A-C c.5134T>G p.W1712G Missense 17/23 - 5
17-41215906-CCCATTTT-C c.5130_5136del p.K1711* Frameshift 17/23 - 1
17-41215910-T-C c.5133A>G p.K1711= Synonymous 17/23 - 2
17-41215910-T-G c.5133A>C p.K1711N Missense 17/23 - 5
17-41215910-T-A c.5133A>T p.K1711N Missense 17/23 - 5
17-41215910-ATTTTCCT-A c.5127_5133del p.K1711* Frameshift 17/23 - 1
17-41215911-T-G c.5132A>C p.K1711T Missense 17/23 - 5
17-41215911-T-C c.5132A>G p.K1711R Missense 17/23 - 6
17-41215911-T-A c.5132A>T p.K1711I Missense 17/23 - 5
17-41215912-T-C c.5131A>G p.K1711E Missense 17/23 - 8
17-41215912-T-G c.5131A>C p.K1711Q Missense 17/23 - 14
17-41215912-T-A c.5131A>T p.K1711* Nonsense 17/23 - 9
17-41215910-TTTTCC-T c.5128_5132del p.G1710Mfs*4 Frameshift 17/23 - 1
17-41215913-T-G c.5130A>C p.G1710= Synonymous 17/23 - 1
17-41215913-T-C c.5130A>G p.G1710= Synonymous 17/23 - 1
17-41215913-T-A c.5130A>T p.G1710= Synonymous 17/23 - 1
17-41215909-AT-A c.5133del p.K1711Nfs*3 Frameshift 17/23 - 6
17-41215909-A-AT c.5133dup p.W1712Mfs*4 Frameshift 17/23 - 3
17-41215914-C-T c.5129G>A p.G1710E Missense 17/23 - 12
17-41215914-C-G c.5129G>C p.G1710A Missense 17/23 - 5
17-41215914-C-A c.5129G>T p.G1710V Missense 17/23 - 5
17-41215914-CC-TT c.5128_5129delinsAA p.G1710K Missense 17/23 - 1
17-41215915-C-T c.5128G>A p.G1710R Missense 17/23 - 9
17-41215915-C-G c.5128G>C p.G1710R Missense 17/23 - 5
17-41215915-C-A c.5128G>T p.G1710* Nonsense 17/23 - 15
17-41215913-TC-T c.5129del p.G1710Efs*4 Frameshift 17/23 - 4
17-41215916-T-G c.5127A>C p.G1709= Synonymous 17/23 - 1
17-41215916-T-A c.5127A>T p.G1709= Synonymous 17/23 - 1
17-41215916-T-C c.5127A>G p.G1709= Synonymous 17/23 - 1
17-41215912-TTCC-T c.5128_5130del p.G1710del InFrameDeletion 17/23 - 1
17-41215917-C-T c.5126G>A p.G1709E Missense 17/23 - 10
17-41215917-C-G c.5126G>C p.G1709A Missense 17/23 - 5
17-41215917-C-A c.5126G>T p.G1709V Missense 17/23 - 5
17-41215918-C-T c.5125G>A p.G1709R Missense 17/23 - 13
17-41215918-C-G c.5125G>C p.G1709R Missense 17/23 - 5
17-41215918-C-A c.5125G>T p.G1709* Nonsense 17/23 - 3
17-41215919-C-T c.5124G>A p.A1708= Synonymous 17/23 - 7
17-41215919-C-G c.5124G>C p.A1708= Synonymous 17/23 - 1
17-41215919-C-A c.5124G>T p.A1708= Synonymous 17/23 - 1
17-41215916-TC-T c.5126del p.G1709Efs*5 Frameshift 17/23 - 5
17-41215920-G-A c.5123C>T p.A1708V Missense 17/23 - 47
17-41215920-G-T c.5123C>A p.A1708E Missense 17/23 - 181
17-41215920-G-C c.5123C>G p.A1708G Missense 17/23 - 22
17-41215919-C-CG c.5123dup p.G1710Rfs*6 Frameshift 17/23 - 1
17-41215920-CG-C c.5123del p.A1708Gfs*6 Frameshift 17/23 - 3
17-41215921-C-G c.5122G>C p.A1708P Missense 17/23 - 5
17-41215921-C-T c.5122G>A p.A1708T Missense 17/23 - 13
17-41215921-C-A c.5122G>T p.A1708S Missense 17/23 - 6
17-41215922-A-T c.5121T>A p.I1707= Synonymous 17/23 - 1
17-41215922-A-G c.5121T>C p.I1707= Synonymous 17/23 - 1
17-41215922-A-C c.5121T>G p.I1707M Missense 17/23 - 5
17-41215922-CAATTCCTA-C c.5114_5121del p.L1705Rfs*8 Frameshift 17/23 - 4
17-41215923-AATT-A c.5118_5120del p.I1707del InFrameDeletion 17/23 - 3
17-41215923-A-T c.5120T>A p.I1707N Missense 17/23 - 5
17-41215923-A-G c.5120T>C p.I1707T Missense 17/23 - 11
17-41215923-A-C c.5120T>G p.I1707S Missense 17/23 - 9
17-41215924-T-G c.5119A>C p.I1707L Missense 17/23 - 6
17-41215924-T-C c.5119A>G p.I1707V Missense 17/23 - 6
17-41215924-T-A c.5119A>T p.I1707F Missense 17/23 - 5
17-41215925-T-G c.5118A>C p.G1706= Synonymous 17/23 - 3
17-41215925-T-C c.5118A>G p.G1706= Synonymous 17/23 - 4
17-41215925-T-A c.5118A>T p.G1706= Synonymous 17/23 - 3
17-41215923-AT-A c.5119del p.I1707Lfs*7 Frameshift 17/23 - 1
17-41215923-ATTCC-A c.5116_5119del p.G1706Lfs*7 Frameshift 17/23 - 1
17-41215926-C-G c.5117G>C p.G1706A Missense 17/23 - 52
17-41215926-C-T c.5117G>A p.G1706E Missense 17/23 - 68
17-41215926-C-A c.5117G>T p.G1706V Missense 17/23 - 6
17-41215926-CC-TT c.5116_5117delinsAA p.G1706K Missense 17/23 - 1
17-41215927-C-T c.5116G>A p.G1706R Missense 17/23 - 18
17-41215927-C-G c.5116G>C p.G1706R Missense 17/23 - 16
17-41215927-C-A c.5116G>T p.G1706* Nonsense 17/23 - 2
17-41215925-T-TC c.5117dup p.I1707Nfs*9 Frameshift 17/23 - 1
17-41215928-T-G c.5115A>C p.L1705= Synonymous 17/23 - 2
17-41215928-T-C c.5115A>G p.L1705= Synonymous 17/23 - 2
17-41215928-T-A c.5115A>T p.L1705= Synonymous 17/23 - 2
17-41215929-A-T c.5114T>A p.L1705Q Missense 17/23 - 7
17-41215929-A-G c.5114T>C p.L1705P Missense 17/23 - 14
17-41215929-A-C c.5114T>G p.L1705R Missense 17/23 - 8
17-41215929-AG-TA c.5113_5114delinsTA p.L1705* Nonsense 17/23 - 1
17-41215930-G-T c.5113C>A p.L1705I Missense 17/23 - 7
17-41215930-G-C c.5113C>G p.L1705V Missense 17/23 - 12
17-41215930-G-A c.5113C>T p.L1705= Synonymous 17/23 - 3
17-41215930-G-GTTA c.5112_5113insTAA p.F1704_L1705ins* InFrameInsertion 17/23 - 2
17-41215931-A-T c.5112T>A p.F1704L Missense 17/23 - 7
17-41215931-A-C c.5112T>G p.F1704L Missense 17/23 - 7
17-41215931-A-G c.5112T>C p.F1704= Synonymous 17/23 - 2
17-41215932-A-T c.5111T>A p.F1704Y Missense 17/23 - 10
17-41215932-A-G c.5111T>C p.F1704S Missense 17/23 - 10
17-41215932-A-C c.5111T>G p.F1704C Missense 17/23 - 6
17-41215933-A-T c.5110T>A p.F1704I Missense 17/23 - 6
17-41215933-A-G c.5110T>C p.F1704L Missense 17/23 - 10
17-41215933-A-C c.5110T>G p.F1704V Missense 17/23 - 6
17-41215934-A-T c.5109T>A p.Y1703* Nonsense 17/23 - 4
17-41215934-A-C c.5109T>G p.Y1703* Nonsense 17/23 - 16
17-41215934-A-G c.5109T>C p.Y1703= Synonymous 17/23 - 1
17-41215930-GA-G c.5112del p.L1705* Frameshift 17/23 - 8
17-41215935-T-G c.5108A>C p.Y1703S Missense 17/23 - 12
17-41215935-T-C c.5108A>G p.Y1703C Missense 17/23 - 16
17-41215935-T-A c.5108A>T p.Y1703F Missense 17/23 - 6
17-41215935-AT-A c.5108del p.Y1703Ffs*3 Frameshift 17/23 - 1
17-41215936-A-T c.5107T>A p.Y1703N Missense 17/23 - 5
17-41215936-A-G c.5107T>C p.Y1703H Missense 17/23 - 11
17-41215936-A-C c.5107T>G p.Y1703D Missense 17/23 - 9
17-41215937-T-C c.5106A>G p.K1702= Synonymous 17/23 - 3
17-41215937-T-A c.5106A>T p.K1702N Missense 17/23 - 6
17-41215937-T-G c.5106A>C p.K1702N Missense 17/23 - 7
17-41215937-TT-CA c.5105_5106delinsTG p.K1702M Missense 17/23 - 9
17-41215937-TTTCAGTGTCCGTTCACACACAAACTCAGCATCTGCAGAATGAAAAACACTCAAAGGAT-GA c.5075-27_5106delinsTC - Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution 17/23 16/22 1
17-41215938-T-G c.5105A>C p.K1702T Missense 17/23 - 6
17-41215938-T-C c.5105A>G p.K1702R Missense 17/23 - 6
17-41215938-T-A c.5105A>T p.K1702I Missense 17/23 - 6
17-41215938-TT-GC c.5104_5105delinsGC p.K1702A Missense 17/23 - 3
17-41215939-T-G c.5104A>C p.K1702Q Missense 17/23 - 6
17-41215939-T-C c.5104A>G p.K1702E Missense 17/23 - 8
17-41215939-T-A c.5104A>T p.K1702* Nonsense 17/23 - 2
17-41215936-AT-A c.5106del p.K1702Nfs*4 Frameshift 17/23 - 8
17-41215940-C-T c.5103G>A p.L1701= Synonymous 17/23 - 2
17-41215940-C-G c.5103G>C p.L1701= Synonymous 17/23 - 2
17-41215940-C-A c.5103G>T p.L1701= Synonymous 17/23 - 2
17-41215940-TCA-T c.5102_5103del p.L1701Qfs*14 Frameshift 17/23 - 11
17-41215938-TTCAG-T c.5101_5104del p.L1701Nfs*4 Frameshift 17/23 - 1
17-41215941-A-G c.5102T>C p.L1701P Missense 17/23 - 8
17-41215941-A-T c.5102T>A p.L1701Q Missense 17/23 - 5
17-41215941-A-C c.5102T>G p.L1701R Missense 17/23 - 5
17-41215941-CA-C c.5102del p.L1701Rfs*5 Frameshift 17/23 - 4
17-41215942-G-T c.5101C>A p.L1701M Missense 17/23 - 11
17-41215942-G-C c.5101C>G p.L1701V Missense 17/23 - 5
17-41215942-G-A c.5101C>T p.L1701= Synonymous 17/23 - 6
17-41215943-T-G c.5100A>C p.T1700= Synonymous 17/23 - 2
17-41215943-T-C c.5100A>G p.T1700= Synonymous 17/23 - 8
17-41215943-T-A c.5100A>T p.T1700= Synonymous 17/23 - 2
17-41215943-GT-G c.5100del p.L1701* Frameshift 17/23 - 1
17-41215944-G-T c.5099C>A p.T1700K Missense 17/23 - 5
17-41215944-G-C c.5099C>G p.T1700R Missense 17/23 - 5
17-41215944-G-A c.5099C>T p.T1700I Missense 17/23 - 9
17-41215945-T-G c.5098A>C p.T1700P Missense 17/23 - 10
17-41215945-T-C c.5098A>G p.T1700A Missense 17/23 - 19
17-41215945-GT-G c.5098del p.T1700Hfs*2 Frameshift 17/23 - 7
17-41215945-T-A c.5098A>T p.T1700S Missense 17/23 - 3
17-41215946-CC-AT c.5096_5097delinsAT p.R1699H Missense 17/23 - 1
17-41215946-CCG-AAA c.5095_5097delinsTTT p.R1699F Missense 17/23 - 1
17-41215946-CCG-GAT c.5095_5097delinsATC p.R1699I Missense 17/23 - 1
17-41215946-CCG-GTT c.5095_5097delinsAAC p.R1699N Missense 17/23 - 1
17-41215947-C-T c.5096G>A p.R1699Q Missense 17/23 - 137
17-41215947-C-A c.5096G>T p.R1699L Missense 17/23 - 31
17-41215947-C-G c.5096G>C p.R1699P Missense 17/23 - 18
17-41215947-CG-TC c.5095_5096delinsGA p.R1699E Missense 17/23 - 1
17-41215947-CG-TT c.5095_5096delinsAA p.R1699K Missense 17/23 - 1
17-41215948-G-A c.5095C>T p.R1699W Missense 17/23 - 159
17-41215948-G-C c.5095C>G p.R1699G Missense 17/23 - 7
17-41215948-G-T c.5095C>A p.R1699= Synonymous 17/23 - 10
17-41215946-CCGTT-C c.5093_5096del p.E1698Gfs*3 Frameshift 17/23 - 2
17-41215946-CCGTTCACA-C c.5089_5096del p.C1697Dfs*16 Frameshift 17/23 - 1
17-41215948-CG-C c.5095del p.R1699Gfs*3 Frameshift 17/23 - 1
17-41215949-T-C c.5094A>G p.E1698= Synonymous 17/23 - 1
17-41215949-T-G c.5094A>C p.E1698D Missense 17/23 - 5
17-41215949-T-A c.5094A>T p.E1698D Missense 17/23 - 5
17-41215950-T-G c.5093A>C p.E1698A Missense 17/23 - 6
17-41215950-T-C c.5093A>G p.E1698G Missense 17/23 - 5
17-41215950-T-A c.5093A>T p.E1698V Missense 17/23 - 5
17-41215950-TC-CT c.5092_5093delinsAG p.E1698R Missense 17/23 - 1
17-41215951-C-T c.5092G>A p.E1698K Missense 17/23 - 5
17-41215951-C-G c.5092G>C p.E1698Q Missense 17/23 - 5
17-41215951-C-A c.5092G>T p.E1698* Nonsense 17/23 - 7
17-41215951-TCAC-T c.5090_5092del p.C1697_E1698delins* MultiAAMissense 17/23 - 2
17-41215952-A-T c.5091T>A p.C1697* Nonsense 17/23 - 3
17-41215952-A-G c.5091T>C p.C1697= Synonymous 17/23 - 1
17-41215952-A-C c.5091T>G p.C1697W Missense 17/23 - 6
17-41215952-CA-C c.5091del p.C1697Wfs*5 Frameshift 17/23 - 3
17-41215953-C-A c.5090G>T p.C1697F Missense 17/23 - 10
17-41215953-C-G c.5090G>C p.C1697S Missense 17/23 - 7
17-41215953-C-T c.5090G>A p.C1697Y Missense 17/23 - 23
17-41215953-AC-A c.5090del p.C1697Lfs*5 Frameshift 17/23 - 4
17-41215954-A-G c.5089T>C p.C1697R Missense 17/23 - 42
17-41215954-A-T c.5089T>A p.C1697S Missense 17/23 - 11
17-41215954-A-C c.5089T>G p.C1697G Missense 17/23 - 6
17-41215955-C-T c.5088G>A p.V1696= Synonymous 17/23 - 1
17-41215955-C-G c.5088G>C p.V1696= Synonymous 17/23 - 1
17-41215955-C-A c.5088G>T p.V1696= Synonymous 17/23 - 2
17-41215956-A-T c.5087T>A p.V1696E Missense 17/23 - 8
17-41215956-A-G c.5087T>C p.V1696A Missense 17/23 - 13
17-41215956-A-C c.5087T>G p.V1696G Missense 17/23 - 5
17-41215953-CACACAA-C c.5084_5089del p.F1695_V1696del InFrameDeletion 17/23 - 1
17-41215957-C-G c.5086G>C p.V1696L Missense 17/23 - 15
17-41215957-C-A c.5086G>T p.V1696L Missense 17/23 - 12
17-41215957-C-T c.5086G>A p.V1696M Missense 17/23 - 12
17-41215950-TCA-T c.5091_5092del p.C1697* Frameshift 17/23 - 6
17-41215958-A-G c.5085T>C p.F1695= Synonymous 17/23 - 1
17-41215958-A-AC c.5084_5085insG p.F1695Lfs*4 Frameshift 17/23 - 3
17-41215959-A-T c.5084T>A p.F1695Y Missense 17/23 - 5
17-41215959-A-G c.5084T>C p.F1695S Missense 17/23 - 5
17-41215959-A-C c.5084T>G p.F1695C Missense 17/23 - 5
17-41215957-CAA-C c.5084_5085del p.F1695Cfs*3 Frameshift 17/23 - 11
17-41215959-A-AC c.5083_5084insG p.F1695Cfs*4 Frameshift 17/23 - 4
17-41215958-A-T c.5085T>A p.F1695L Missense 17/23 - 23
17-41215960-A-G c.5083T>C p.F1695L Missense 17/23 - 11
17-41215958-A-C c.5085T>G p.F1695L Missense 17/23 - 11
17-41215960-A-T c.5083T>A p.F1695I Missense 17/23 - 4
17-41215960-A-C c.5083T>G p.F1695V Missense 17/23 - 5
17-41215957-C-CA c.5085dup p.V1696Cfs*3 Frameshift 17/23 - 3
17-41215960-AACTCAG-A c.5078_5083del p.A1693_F1695delinsV MultiAAMissense 17/23 - 1
17-41215961-C-T c.5082G>A p.E1694= Synonymous 17/23 - 2
17-41215961-C-G c.5082G>C p.E1694D Missense 17/23 - 5
17-41215961-C-A c.5082G>T p.E1694D Missense 17/23 - 5
17-41215961-CTCAGC-TTGAAGGATAAA c.5077_5082delinsTTTATCCTTCAA p.A1693_E1694delinsFILQ MultiAAMissense 17/23 - 1
17-41215961-CTCAGC-TTGAAGGATAAG c.5077_5082delinsCTTATCCTTCAA p.A1693_E1694delinsLILQ MultiAAMissense 17/23 - 1
17-41215959-AACTC-A c.5080_5083del p.E1694Lfs*7 Frameshift 17/23 - 1
17-41215962-T-G c.5081A>C p.E1694A Missense 17/23 - 5
17-41215962-T-C c.5081A>G p.E1694G Missense 17/23 - 9
17-41215962-T-A c.5081A>T p.E1694V Missense 17/23 - 5
17-41215962-T-TG c.5080_5081insC p.E1694Afs*5 Frameshift 17/23 - 1
17-41215963-C-A c.5080G>T p.E1694* Nonsense 17/23 - 50
17-41215963-C-T c.5080G>A p.E1694K Missense 17/23 - 13
17-41215963-C-G c.5080G>C p.E1694Q Missense 17/23 - 5
17-41215963-CAGC-GCAGAATCAA c.5077_5080delinsTTGATTCTGC p.A1693_E1694delinsLILQ MultiAAMissense 17/23 - 2
17-41215963-CAGC-GCAGAATGAA c.5077_5080delinsTTCATTCTGC p.A1693_E1694delinsFILQ MultiAAMissense 17/23 - 2
17-41215963-TC-T c.5080del p.E1694Sfs*8 Frameshift 17/23 - 2
17-41215964-A-T c.5079T>A p.A1693= Synonymous 17/23 - 2
17-41215964-A-G c.5079T>C p.A1693= Synonymous 17/23 - 3
17-41215964-A-C c.5079T>G p.A1693= Synonymous 17/23 - 2
17-41215965-G-T c.5078C>A p.A1693D Missense 17/23 - 6
17-41215965-G-C c.5078C>G p.A1693G Missense 17/23 - 4
17-41215965-G-A c.5078C>T p.A1693V Missense 17/23 - 9
17-41215962-TCAG-T c.5078_5080del p.A1693del InFrameDeletion 17/23 - 14
17-41215965-G-GAATGA c.5077_5078insTCATT p.A1693Vfs*11 Frameshift 17/23 - 1
17-41215965-AGCAT-A c.5075_5078del p.D1692Vfs*9 SpliceAcceptorDeletion 17/23 - 3
17-41215966-C-T c.5077G>A p.A1693T Missense 17/23 - 6
17-41215966-C-G c.5077G>C p.A1693P Missense 17/23 - 5
17-41215966-C-A c.5077G>T p.A1693S Missense 17/23 - 5
17-41215966-GC-G c.5077del p.A1693Lfs*9 Frameshift 17/23 - 1
17-41215966-C-CCTCCCAAAGCGCTGGG c.5076_5077insCCCAGCGCTTTGGGAG p.A1693Pfs*7 SpliceAcceptorInsertion 17/23 - 1
17-41215967-A-T c.5076T>A p.D1692E Missense 17/23 - 7
17-41215967-A-C c.5076T>G p.D1692E Missense 17/23 - 7
17-41215967-A-G c.5076T>C p.D1692= Synonymous 17/23 - 1
17-41215967-CA-C c.5076del p.D1692Efs*10 Frameshift 17/23 - 5
17-41215968-T-G c.5075A>C p.D1692A Missense 17/23 - 13
17-41215968-T-C c.5075A>G p.D1692G Missense 17/23 - 10
17-41215968-T-A c.5075A>T p.D1692V Missense 17/23 - 11
17-41215969-C-A c.5075-1G>T - IntronicSNV - 16/22 8
17-41215969-C-G c.5075-1G>C - IntronicSNV - 16/22 8
17-41215969-C-T c.5075-1G>A - IntronicSNV - 16/22 8
17-41215970-T-A c.5075-2A>T - IntronicSNV - 16/22 2
17-41215970-T-C c.5075-2A>G - IntronicSNV - 16/22 2
17-41215970-T-G c.5075-2A>C - IntronicSNV - 16/22 2
17-41215971-G-A c.5075-3C>T - IntronicSNV - 16/22 1
17-41215971-G-C c.5075-3C>G - IntronicSNV - 16/22 1
17-41215972-C-T c.5075-4G>A - IntronicSNV - 16/22 2
17-41215972-GCAGAATGAAAAACACTCAAAGGATTAGAAGTTGAAAACAAAATCAGGAAGTGCTGTCCT-G c.5075-62_5075-4del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 16/22 1
17-41215973-A-G c.5075-5T>C - IntronicSNV - 16/22 1
17-41215974-G-A c.5075-6C>T - IntronicSNV - 16/22 2
17-41215974-G-T c.5075-6C>A - IntronicSNV - 16/22 2
17-41215976-A-C c.5075-8T>G - IntronicSNV - 16/22 1
17-41215977-T-A c.5075-9A>T - IntronicSNV - 16/22 1
17-41215977-T-C c.5075-9A>G - IntronicSNV - 16/22 1
17-41215977-T-G c.5075-9A>C - IntronicSNV - 16/22 1
17-41215986-C-T c.5075-18G>A - IntronicSNV - 16/22 1
17-41216021-G-A c.5075-53C>T - IntronicSNV - 16/22 19
17-41216205-G-T c.5075-237C>A - IntronicSNV - 16/22 11
17-41216206-T-C c.5075-238A>G - IntronicSNV - 16/22 4
17-41216341-G-A c.5075-373C>T - IntronicSNV - 16/22 2
17-41216344-G-A c.5075-376C>T - IntronicSNV - 16/22 1
17-41216933-T-C c.5075-965A>G - IntronicSNV - 16/22 2
17-41217041-G-T c.5075-1073C>A - IntronicSNV - 16/22 1
17-41217103-C-T c.5075-1135G>A - IntronicSNV - 16/22 1
17-41217111-C-T c.5075-1143G>A - IntronicSNV - 16/22 1
17-41217380-A-G c.5075-1412T>C - IntronicSNV - 16/22 2
17-41217451-C-A c.5075-1483G>T - IntronicSNV - 16/22 1
17-41217451-C-T c.5075-1483G>A - IntronicSNV - 16/22 1
17-41217514-T-C c.5075-1546A>G - IntronicSNV - 16/22 1
17-41217552-A-C c.5075-1584T>G - IntronicSNV - 16/22 1
17-41217874-C-T c.5074+1751G>A - IntronicSNV - 16/22 5
17-41218333-G-A c.5074+1292C>T - IntronicSNV - 16/22 3
17-41218372-A-G c.5074+1253T>C - IntronicSNV - 16/22 2
17-41218572-T-C c.5074+1053A>G - IntronicSNV - 16/22 2
17-41218707-C-G c.5074+918G>C - IntronicSNV - 16/22 1
17-41218707-C-T c.5074+918G>A - IntronicSNV - 16/22 1
17-41218747-C-T c.5074+878G>A - IntronicSNV - 16/22 4
17-41218805-A-G c.5074+820T>C - IntronicSNV - 16/22 3
17-41218805-A-T c.5074+820T>A - IntronicSNV - 16/22 2
17-41218877-CCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAA-C c.5074+690_5074+748del - Unclassified - 16/22 1
17-41219341-G-T c.5074+284C>A - IntronicSNV - 16/22 4
17-41219360-C-T c.5074+265G>A - IntronicSNV - 16/22 1
17-41219397-G-A c.5074+228C>T - IntronicSNV - 16/22 1
17-41219434-G-C c.5074+191C>G - IntronicSNV - 16/22 1
17-41219518-G-A c.5074+107C>T - IntronicSNV - 16/22 1
17-41219533-A-G c.5074+92T>C - IntronicSNV - 16/22 1
17-41219551-CATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAA-C c.5074+16_5074+74del - Unclassified - 16/22 1
17-41219559-C-T c.5074+66G>A - IntronicSNV - 16/22 1
17-41219560-C-A c.5074+65G>T - IntronicSNV - 16/22 11
17-41219560-C-T c.5074+65G>A - IntronicSNV - 16/22 18
17-41219596-A-G c.5074+29T>C - IntronicSNV - 16/22 1
17-41219597-A-T c.5074+28T>A - IntronicSNV - 16/22 1
17-41219602-T-C c.5074+23A>G - IntronicSNV - 16/22 3
17-41219615-C-T c.5074+10G>A - IntronicSNV - 16/22 1
17-41219615-C-G c.5074+10G>C - IntronicSNV - 16/22 1
17-41219615-C-A c.5074+10G>T - IntronicSNV - 16/22 1
17-41219616-T-G c.5074+9A>C - IntronicSNV - 16/22 2
17-41219616-T-C c.5074+9A>G - IntronicSNV - 16/22 1
17-41219616-T-A c.5074+9A>T - IntronicSNV - 16/22 1
17-41219617-T-G c.5074+8A>C - IntronicSNV - 16/22 1
17-41219617-T-C c.5074+8A>G - IntronicSNV - 16/22 1
17-41219617-T-A c.5074+8A>T - IntronicSNV - 16/22 1
17-41219618-G-T c.5074+7C>A - IntronicSNV - 16/22 1
17-41219618-G-C c.5074+7C>G - IntronicSNV - 16/22 1
17-41219618-G-A c.5074+7C>T - IntronicSNV - 16/22 3
17-41219619-G-C c.5074+6C>G - IntronicSNV - 16/22 11
17-41219619-G-T c.5074+6C>A - IntronicSNV - 16/22 1
17-41219619-G-A c.5074+6C>T - IntronicSNV - 16/22 1
17-41219620-T-G c.5074+5A>C - IntronicSNV - 16/22 1
17-41219620-T-C c.5074+5A>G - IntronicSNV - 16/22 1
17-41219620-T-A c.5074+5A>T - IntronicSNV - 16/22 3
17-41219621-A-T c.5074+4T>A - IntronicSNV - 16/22 1
17-41219621-A-G c.5074+4T>C - IntronicSNV - 16/22 3
17-41219621-A-C c.5074+4T>G - IntronicSNV - 16/22 1
17-41219621-TATACC-T c.5074_5074+4del - SpliceDonorDeletion 16/23 16/22 1
17-41219622-T-G c.5074+3A>C - IntronicSNV - 16/22 3
17-41219622-T-C c.5074+3A>G - IntronicSNV - 16/22 14
17-41219622-T-A c.5074+3A>T - IntronicSNV - 16/22 1
17-41219623-A-T c.5074+2T>A - IntronicSNV - 16/22 5
17-41219623-A-G c.5074+2T>C - IntronicSNV - 16/22 18
17-41219623-A-C c.5074+2T>G - IntronicSNV - 16/22 1
17-41219624-C-T c.5074+1G>A - IntronicSNV - 16/22 25
17-41219624-C-G c.5074+1G>C - IntronicSNV - 16/22 6
17-41219624-C-A c.5074+1G>T - IntronicSNV - 16/22 28
17-41219625-C-T c.5074G>A p.D1692N Missense 16/23 - 56
17-41219625-C-A c.5074G>T p.D1692Y Missense 16/23 - 25
17-41219625-C-G c.5074G>C p.D1692H Missense 16/23 - 42
17-41219625-C-CA c.5073_5074insT p.D1692* SpliceDonorInsertion 16/23 - 2
17-41219625-C-CG c.5073_5074insC p.D1692Rfs*3 SpliceDonorInsertion 16/23 - 2
17-41219625-CCTG-C c.5072_5074del p.T1691_D1692delinsN SpliceDonorDeletion 16/23 - 1
17-41219623-AC-A c.5074+1del - IntronicDeletion 16/23 - 1
17-41219626-T-G c.5073A>C p.T1691= Synonymous 16/23 - 9
17-41219626-T-C c.5073A>G p.T1691= Synonymous 16/23 - 10
17-41219626-T-A c.5073A>T p.T1691= Synonymous 16/23 - 10
17-41219625-C-CT c.5073dup p.D1692Rfs*3 SpliceDonorInsertion 16/23 - 6
17-41219626-CT-C c.5073del p.D1692Mfs*10 Frameshift 16/23 - 1
17-41219627-G-A c.5072C>T p.T1691I Missense 16/23 - 33
17-41219627-G-T c.5072C>A p.T1691K Missense 16/23 - 48
17-41219627-G-C c.5072C>G p.T1691R Missense 16/23 - 10
17-41219627-TGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTG-T c.5014_5072del p.H1672Rfs*3 InFrameDeletion 16/23 - 3
17-41219625-CTGT-C c.5071_5073del p.T1691del InFrameDeletion 16/23 - 3
17-41219628-T-G c.5071A>C p.T1691P Missense 16/23 - 6
17-41219628-T-C c.5071A>G p.T1691A Missense 16/23 - 13
17-41219628-T-A c.5071A>T p.T1691S Missense 16/23 - 5
17-41219628-GTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGT-G c.5013_5071del p.K1671Nfs*4 Unclassified 16/23 - 4
17-41219629-T-G c.5070A>C p.K1690N Missense 16/23 - 6
17-41219629-T-A c.5070A>T p.K1690N Missense 16/23 - 6
17-41219629-T-C c.5070A>G p.K1690= Synonymous 16/23 - 2
17-41219630-T-G c.5069A>C p.K1690T Missense 16/23 - 3
17-41219630-T-C c.5069A>G p.K1690R Missense 16/23 - 5
17-41219630-T-A c.5069A>T p.K1690I Missense 16/23 - 3
17-41219631-T-G c.5068A>C p.K1690Q Missense 16/23 - 35
17-41219631-T-C c.5068A>G p.K1690E Missense 16/23 - 5
17-41219631-T-A c.5068A>T p.K1690* Nonsense 16/23 - 15
17-41219627-G-GT c.5071dup p.T1691Nfs*4 Frameshift 16/23 - 7
17-41219632-C-T c.5067G>A p.M1689I Missense 16/23 - 15
17-41219632-C-G c.5067G>C p.M1689I Missense 16/23 - 9
17-41219632-C-A c.5067G>T p.M1689I Missense 16/23 - 8
17-41219633-A-C c.5066T>G p.M1689R Missense 16/23 - 33
17-41219633-A-G c.5066T>C p.M1689T Missense 16/23 - 20
17-41219633-A-T c.5066T>A p.M1689K Missense 16/23 - 6
17-41219633-CA-C c.5066del p.M1689Rfs*13 Frameshift 16/23 - 1
17-41219634-T-G c.5065A>C p.M1689L Missense 16/23 - 8
17-41219634-T-A c.5065A>T p.M1689L Missense 16/23 - 5
17-41219634-T-C c.5065A>G p.M1689V Missense 16/23 - 8
17-41219633-A-AT c.5065dup p.M1689Nfs*6 Frameshift 16/23 - 5
17-41219635-A-T c.5064T>A p.V1688= Synonymous 16/23 - 1
17-41219635-A-G c.5064T>C p.V1688= Synonymous 16/23 - 1
17-41219635-A-C c.5064T>G p.V1688= Synonymous 16/23 - 1
17-41219636-A-T c.5063T>A p.V1688D Missense 16/23 - 5
17-41219636-A-G c.5063T>C p.V1688A Missense 16/23 - 7
17-41219636-A-C c.5063T>G p.V1688G Missense 16/23 - 6
17-41219637-C-T c.5062G>A p.V1688I Missense 16/23 - 8
17-41219637-C-G c.5062G>C p.V1688L Missense 16/23 - 6
17-41219637-C-A c.5062G>T p.V1688F Missense 16/23 - 9
17-41219638-A-T c.5061T>A p.V1687= Synonymous 16/23 - 1
17-41219638-A-G c.5061T>C p.V1687= Synonymous 16/23 - 2
17-41219638-A-C c.5061T>G p.V1687= Synonymous 16/23 - 1
17-41219634-TAAC-T c.5062_5064del p.V1688del InFrameDeletion 16/23 - 50
17-41219639-A-T c.5060T>A p.V1687D Missense 16/23 - 6
17-41219639-A-G c.5060T>C p.V1687A Missense 16/23 - 6
17-41219639-A-C c.5060T>G p.V1687G Missense 16/23 - 11
17-41219639-A-AGTTG c.5059_5060insCAAC p.V1687Afs*9 Frameshift 16/23 - 3
17-41219639-AC-CT c.5059_5060delinsAG p.V1687S Missense 16/23 - 1
17-41219637-CA-C c.5061del p.V1688Lfs*2 Frameshift 16/23 - 1
17-41219640-C-T c.5059G>A p.V1687I Missense 16/23 - 6
17-41219640-C-G c.5059G>C p.V1687L Missense 16/23 - 5
17-41219640-C-A c.5059G>T p.V1687F Missense 16/23 - 5
17-41219640-AC-A c.5059del p.V1687Lfs*3 Frameshift 16/23 - 5
17-41219640-C-CGTTG c.5058_5059insCAAC p.V1687Qfs*9 Frameshift 16/23 - 4
17-41219641-A-T c.5058T>A p.H1686Q Missense 16/23 - 17
17-41219641-A-C c.5058T>G p.H1686Q Missense 16/23 - 12
17-41219641-A-G c.5058T>C p.H1686= Synonymous 16/23 - 4
17-41219642-T-C c.5057A>G p.H1686R Missense 16/23 - 28
17-41219642-T-G c.5057A>C p.H1686P Missense 16/23 - 10
17-41219642-T-A c.5057A>T p.H1686L Missense 16/23 - 5
17-41219641-A-AT c.5057dup p.H1686Qfs*9 Frameshift 16/23 - 1
17-41219643-G-T c.5056C>A p.H1686N Missense 16/23 - 5
17-41219643-G-C c.5056C>G p.H1686D Missense 16/23 - 6
17-41219643-G-A c.5056C>T p.H1686Y Missense 16/23 - 11
17-41219642-T-TG c.5056dup p.H1686Pfs*9 Frameshift 16/23 - 5
17-41219641-A-ATGAG c.5054_5057dup p.V1687Sfs*9 Frameshift 16/23 - 1
17-41219644-A-T c.5055T>A p.T1685= Synonymous 16/23 - 1
17-41219644-A-G c.5055T>C p.T1685= Synonymous 16/23 - 2
17-41219644-A-C c.5055T>G p.T1685= Synonymous 16/23 - 1
17-41219645-G-A c.5054C>T p.T1685I Missense 16/23 - 51
17-41219645-G-C c.5054C>G p.T1685S Missense 16/23 - 5
17-41219645-G-T c.5054C>A p.T1685N Missense 16/23 - 5
17-41219646-T-C c.5053A>G p.T1685A Missense 16/23 - 41
17-41219646-T-G c.5053A>C p.T1685P Missense 16/23 - 5
17-41219646-T-A c.5053A>T p.T1685S Missense 16/23 - 5
17-41219647-A-T c.5052T>A p.T1684= Synonymous 16/23 - 1
17-41219647-A-G c.5052T>C p.T1684= Synonymous 16/23 - 1
17-41219647-A-C c.5052T>G p.T1684= Synonymous 16/23 - 1
17-41219648-G-C c.5051C>G p.T1684S Missense 16/23 - 3
17-41219648-G-T c.5051C>A p.T1684N Missense 16/23 - 3
17-41219648-G-A c.5051C>T p.T1684I Missense 16/23 - 4
17-41219648-GT-CC c.5050_5051delinsGG p.T1684G Missense 16/23 - 1
17-41219648-AGT-A c.5050_5051del p.T1684Yfs*10 Frameshift 16/23 - 3
17-41219648-AG-A c.5051del p.T1684Ifs*6 Frameshift 16/23 - 3
17-41219648-GT-TA c.5050_5051delinsTA p.T1684Y Missense 16/23 - 1
17-41219648-AGTCTCTTCAGTAAT-A c.5038_5051del p.I1680Yfs*10 Frameshift 16/23 - 1
17-41219649-T-G c.5050A>C p.T1684P Missense 16/23 - 8
17-41219649-T-C c.5050A>G p.T1684A Missense 16/23 - 12
17-41219649-T-A c.5050A>T p.T1684S Missense 16/23 - 6
17-41219650-C-T c.5049G>A p.E1683= Synonymous 16/23 - 1
17-41219650-C-G c.5049G>C p.E1683D Missense 16/23 - 5
17-41219650-C-A c.5049G>T p.E1683D Missense 16/23 - 5
17-41219651-T-G c.5048A>C p.E1683A Missense 16/23 - 5
17-41219651-T-C c.5048A>G p.E1683G Missense 16/23 - 6
17-41219651-T-A c.5048A>T p.E1683V Missense 16/23 - 5
17-41219652-C-T c.5047G>A p.E1683K Missense 16/23 - 6
17-41219652-C-G c.5047G>C p.E1683Q Missense 16/23 - 7
17-41219652-C-A c.5047G>T p.E1683* Nonsense 16/23 - 13
17-41219653-T-G c.5046A>C p.E1682D Missense 16/23 - 5
17-41219653-T-A c.5046A>T p.E1682D Missense 16/23 - 4
17-41219653-T-C c.5046A>G p.E1682= Synonymous 16/23 - 1
17-41219654-T-G c.5045A>C p.E1682A Missense 16/23 - 5
17-41219654-T-C c.5045A>G p.E1682G Missense 16/23 - 5
17-41219654-T-A c.5045A>T p.E1682V Missense 16/23 - 10
17-41219654-TTCAGTAATTAGATTAGTTA-T c.5027_5045del p.L1676* Frameshift 16/23 - 2
17-41219655-C-T c.5044G>A p.E1682K Missense 16/23 - 26
17-41219655-C-G c.5044G>C p.E1682Q Missense 16/23 - 5
17-41219655-C-A c.5044G>T p.E1682* Nonsense 16/23 - 2
17-41219655-C-CTTA c.5043_5044insTAA p.T1681_E1682ins* InFrameInsertion 16/23 - 1
17-41219656-CAG-C c.5042_5043del p.T1681Rfs*13 Frameshift 16/23 - 1
17-41219656-A-T c.5043T>A p.T1681= Synonymous 16/23 - 1
17-41219656-A-G c.5043T>C p.T1681= Synonymous 16/23 - 1
17-41219656-A-C c.5043T>G p.T1681= Synonymous 16/23 - 1
17-41219655-C-CATTA c.5043_5044insTAAT p.E1682* Nonsense 16/23 - 3
17-41219657-G-C c.5042C>G p.T1681S Missense 16/23 - 6
17-41219657-G-T c.5042C>A p.T1681N Missense 16/23 - 5
17-41219657-G-A c.5042C>T p.T1681I Missense 16/23 - 9
17-41219657-AG-A c.5042del p.T1681Mfs*9 Frameshift 16/23 - 3
17-41219658-T-G c.5041A>C p.T1681P Missense 16/23 - 10
17-41219658-T-C c.5041A>G p.T1681A Missense 16/23 - 6
17-41219658-T-A c.5041A>T p.T1681S Missense 16/23 - 5
17-41219657-G-GTTAA c.5041_5042insTTAA p.T1681Ifs*3 Frameshift 16/23 - 3
17-41219658-GT-G c.5041del p.T1681Lfs*9 Frameshift 16/23 - 1
17-41219658-GTA-G c.5040_5041del p.T1681* Frameshift 16/23 - 1
17-41219659-A-T c.5040T>A p.I1680= Synonymous 16/23 - 2
17-41219659-A-G c.5040T>C p.I1680= Synonymous 16/23 - 2
17-41219659-A-C c.5040T>G p.I1680M Missense 16/23 - 5
17-41219659-TAA-T c.5039_5040del p.I1680Nfs*2 Frameshift 16/23 - 3
17-41219660-A-T c.5039T>A p.I1680N Missense 16/23 - 5
17-41219660-A-G c.5039T>C p.I1680T Missense 16/23 - 6
17-41219660-A-C c.5039T>G p.I1680S Missense 16/23 - 5
17-41219658-TA-T c.5040del p.T1681Lfs*9 Frameshift 16/23 - 5
17-41219657-GTAAT-G c.5038_5041del p.I1680Lfs*9 Frameshift 16/23 - 1
17-41219657-G-GTAAT c.5038_5041dup p.T1681Nfs*3 Frameshift 16/23 - 1
17-41219661-T-C c.5038A>G p.I1680V Missense 16/23 - 6
17-41219661-T-G c.5038A>C p.I1680L Missense 16/23 - 5
17-41219661-T-A c.5038A>T p.I1680F Missense 16/23 - 5
17-41219662-T-G c.5037A>C p.L1679= Synonymous 16/23 - 1
17-41219662-T-C c.5037A>G p.L1679= Synonymous 16/23 - 1
17-41219662-T-A c.5037A>T p.L1679= Synonymous 16/23 - 1
17-41219661-T-TTTA c.5037_5038insTAA p.L1679_I1680ins* InFrameInsertion 16/23 - 2
17-41219662-TTA-T c.5036_5037del p.L1679Hfs*3 Frameshift 16/23 - 1
17-41219663-A-T c.5036T>A p.L1679Q Missense 16/23 - 8
17-41219663-A-G c.5036T>C p.L1679P Missense 16/23 - 13
17-41219663-A-C c.5036T>G p.L1679R Missense 16/23 - 5
17-41219663-AG-GA c.5035_5036delinsTC p.L1679S Missense 16/23 - 1
17-41219663-AG-TA c.5035_5036delinsTA p.L1679* Nonsense 16/23 - 1
17-41219664-G-T c.5035C>A p.L1679I Missense 16/23 - 5
17-41219664-G-C c.5035C>G p.L1679V Missense 16/23 - 10
17-41219664-G-A c.5035C>T p.L1679= Synonymous 16/23 - 2
17-41219664-AG-A c.5035del p.L1679* Frameshift 16/23 - 11
17-41219664-G-GTTA c.5034_5035insTAA p.N1678_L1679ins* InFrameInsertion 16/23 - 2
17-41219665-A-T c.5034T>A p.N1678K Missense 16/23 - 5
17-41219665-A-C c.5034T>G p.N1678K Missense 16/23 - 5
17-41219665-A-G c.5034T>C p.N1678= Synonymous 16/23 - 2
17-41219665-AT-GCTAAACTCAAGGA c.5033_5034delinsTCCTTGAGTTTAGC p.N1678delinsILEFS MultiAAMissense 16/23 - 1
17-41219659-AATTAG-A c.5035_5039del p.L1679Yfs*2 Frameshift 16/23 - 18
17-41219662-TAGATTAGTTAA-T c.5026_5036del p.L1676Nfs*3 Frameshift 16/23 - 6
17-41219666-T-G c.5033A>C p.N1678T Missense 16/23 - 5
17-41219666-T-C c.5033A>G p.N1678S Missense 16/23 - 6
17-41219666-T-A c.5033A>T p.N1678I Missense 16/23 - 5
17-41219666-TT-GC c.5032_5033delinsGC p.N1678A Missense 16/23 - 1
17-41219667-T-G c.5032A>C p.N1678H Missense 16/23 - 5
17-41219667-T-C c.5032A>G p.N1678D Missense 16/23 - 5
17-41219667-T-A c.5032A>T p.N1678Y Missense 16/23 - 5
17-41219665-AT-A c.5033del p.N1678Ifs*2 Frameshift 16/23 - 1
17-41219668-A-T c.5031T>A p.T1677= Synonymous 16/23 - 3
17-41219668-A-G c.5031T>C p.T1677= Synonymous 16/23 - 2
17-41219668-A-C c.5031T>G p.T1677= Synonymous 16/23 - 2
17-41219667-T-TA c.5031dup p.N1678* Nonsense 16/23 - 1
17-41219665-ATTAG-A c.5030_5033del p.T1677Ifs*2 Frameshift 16/23 - 74
17-41219669-G-C c.5030C>G p.T1677S Missense 16/23 - 5
17-41219669-G-T c.5030C>A p.T1677N Missense 16/23 - 5
17-41219669-G-A c.5030C>T p.T1677I Missense 16/23 - 7
17-41219669-G-GA c.5029_5030insT p.T1677Ifs*2 Frameshift 16/23 - 1
17-41219667-TAGTTA-T c.5027_5031del p.L1676* Frameshift 16/23 - 4
17-41219670-T-G c.5029A>C p.T1677P Missense 16/23 - 5
17-41219670-T-C c.5029A>G p.T1677A Missense 16/23 - 6
17-41219670-T-A c.5029A>T p.T1677S Missense 16/23 - 5
17-41219671-T-C c.5028A>G p.L1676= Synonymous 16/23 - 2
17-41219671-T-G c.5028A>C p.L1676F Missense 16/23 - 5
17-41219671-T-A c.5028A>T p.L1676F Missense 16/23 - 9
17-41219672-A-T c.5027T>A p.L1676* Nonsense 16/23 - 9
17-41219672-A-C c.5027T>G p.L1676* Nonsense 16/23 - 7
17-41219672-A-G c.5027T>C p.L1676S Missense 16/23 - 3
17-41219673-A-T c.5026T>A p.L1676I Missense 16/23 - 5
17-41219673-A-G c.5026T>C p.L1676= Synonymous 16/23 - 1
17-41219673-A-C c.5026T>G p.L1676V Missense 16/23 - 5
17-41219671-TAA-T c.5026_5027del p.L1676Nfs*2 Frameshift 16/23 - 5
17-41219672-A-AATT c.5026_5027insAAT p.T1675_L1676ins* InFrameInsertion 16/23 - 2
17-41219674-A-T c.5025T>A p.T1675= Synonymous 16/23 - 2
17-41219674-A-C c.5025T>G p.T1675= Synonymous 16/23 - 2
17-41219674-A-G c.5025T>C p.T1675= Synonymous 16/23 - 3
17-41219671-T-TA c.5027dup p.L1676Ffs*3 Frameshift 16/23 - 5
17-41219671-TA-T c.5027del p.L1676* Frameshift 16/23 - 6
17-41219675-G-T c.5024C>A p.T1675N Missense 16/23 - 5
17-41219675-G-A c.5024C>T p.T1675I Missense 16/23 - 20
17-41219675-G-C c.5024C>G p.T1675S Missense 16/23 - 5
17-41219675-GT-TG c.5023_5024delinsCA p.T1675H Missense 16/23 - 1
17-41219676-T-G c.5023A>C p.T1675P Missense 16/23 - 5
17-41219676-T-C c.5023A>G p.T1675A Missense 16/23 - 9
17-41219676-T-A c.5023A>T p.T1675S Missense 16/23 - 8
17-41219677-G-A c.5022C>T p.I1674= Synonymous 16/23 - 4
17-41219677-G-C c.5022C>G p.I1674M Missense 16/23 - 4
17-41219678-A-G c.5021T>C p.I1674T Missense 16/23 - 6
17-41219678-A-T c.5021T>A p.I1674N Missense 16/23 - 3
17-41219678-A-C c.5021T>G p.I1674S Missense 16/23 - 3
17-41219675-GTGA-G c.5021_5023del p.I1674del InFrameDeletion 16/23 - 1
17-41219674-AGTGAT-A c.5020_5024del p.I1674Ffs*3 Frameshift 16/23 - 1
17-41219677-G-GA c.5021dup p.T1675Hfs*4 Frameshift 16/23 - 1
17-41219678-GA-G c.5021del p.I1674Tfs*3 Frameshift 16/23 - 1
17-41219679-T-G