CDH12

CDH12 cadherin 12

Annotation transcript: NM_004061.5

1599 unique variant annotations were identified in 549 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
5-21751050-T-TTTTTC	c.791_795dup	-	3-UTRInsertion	15/15	-	2
5-21751715-C-CAGAA	c.130_131insTTCT	-	3-UTRInsertion	15/15	-	2
5-21751715-C-CAGAAAG	c.130_131insCTTTCT	-	3-UTRInsertion	15/15	-	2
5-21751717-G-GAA	c.128_129insTT	-	3-UTRInsertion	15/15	-	2
5-21751717-G-GAAA	c.128_129insTTT	-	3-UTRInsertion	15/15	-	2
5-21751717-G-GAAAC	c.128_129insGTTT	-	3-UTRInsertion	15/15	-	2
5-21751717-G-GAAAGAA	c.128_129insTTCTTT	-	3-UTRInsertion	15/15	-	2
5-21751717-G-GAAAT	c.128_129insATTT	-	3-UTRInsertion	15/15	-	2
5-21751731-G-T	c.*115C>A	-	3-UTRSNV	15/15	-	3
5-21751737-G-T	c.*109C>A	-	3-UTRSNV	15/15	-	1
5-21751739-G-T	c.*107C>A	-	3-UTRSNV	15/15	-	2
5-21751741-T-G	c.*105A>C	-	3-UTRSNV	15/15	-	2
5-21751741-T-TTTTGTGTGTG	c.104_105insCACACACAAA	-	3-UTRInsertion	15/15	-	1
5-21751760-T-A	c.*86A>T	-	3-UTRSNV	15/15	-	4
5-21751761-G-GTGTGTGTGTA	c.84_85insTACACACACA	-	3-UTRInsertion	15/15	-	1
5-21751854-C-T	c.2377G>A	p.V793I	Missense	15/15	-	1
5-21751860-C-G	c.2371G>C	p.D791H	Missense	15/15	-	1
5-21751860-C-T	c.2371G>A	p.D791N	Missense	15/15	-	1
5-21751862-G-A	c.2369C>T	p.P790L	Missense	15/15	-	2
5-21751863-G-A	c.2368C>T	p.P790S	Missense	15/15	-	1
5-21751863-G-T	c.2368C>A	p.P790T	Missense	15/15	-	2
5-21751864-G-A	c.2367C>T	p.N789=	Synonymous	15/15	-	1
5-21751864-G-T	c.2367C>A	p.N789K	Missense	15/15	-	1
5-21751872-T-C	c.2359A>G	p.S787G	Missense	15/15	-	1
5-21751873-C-T	c.2358G>A	p.E786=	Synonymous	15/15	-	2
5-21751875-TC-T	c.2356del	p.E786Rfs*59	Frameshift	15/15	-	1
5-21751878-C-A	c.2353G>T	p.E785*	Nonsense	15/15	-	2
5-21751879-T-C	c.2352A>G	p.E784=	Synonymous	15/15	-	1
5-21751879-T-G	c.2352A>C	p.E784D	Missense	15/15	-	2
5-21751880-T-C	c.2351A>G	p.E784G	Missense	15/15	-	1
5-21751881-C-T	c.2350G>A	p.E784K	Missense	15/15	-	5
5-21751882-G-A	c.2349C>T	p.G783=	Synonymous	15/15	-	3
5-21751882-G-C	c.2349C>G	p.G783=	Synonymous	15/15	-	2
5-21751882-G-T	c.2349C>A	p.G783=	Synonymous	15/15	-	2
5-21751885-A-C	c.2346T>G	p.F782L	Missense	15/15	-	1
5-21751885-A-T	c.2346T>A	p.F782L	Missense	15/15	-	1
5-21751887-A-G	c.2344T>C	p.F782L	Missense	15/15	-	1
5-21751888-C-A	c.2343G>T	p.M781I	Missense	15/15	-	1
5-21751888-C-G	c.2343G>C	p.M781I	Missense	15/15	-	1
5-21751888-C-T	c.2343G>A	p.M781I	Missense	15/15	-	1
5-21751890-T-C	c.2341A>G	p.M781V	Missense	15/15	-	1
5-21751891-G-A	c.2340C>T	p.D780=	Synonymous	15/15	-	1
5-21751893-C-G	c.2338G>C	p.D780H	Missense	15/15	-	1
5-21751893-C-T	c.2338G>A	p.D780N	Missense	15/15	-	1
5-21751894-TGC-ACA	c.2335_2337delinsTGT	p.A779C	Missense	15/15	-	1
5-21751896-C-T	c.2335G>A	p.A779T	Missense	15/15	-	2
5-21751900-G-A	c.2331C>T	p.V777=	Synonymous	15/15	-	2
5-21751900-G-C	c.2331C>G	p.V777=	Synonymous	15/15	-	2
5-21751900-G-T	c.2331C>A	p.V777=	Synonymous	15/15	-	2
5-21751903-T-C	c.2328A>G	p.K776=	Synonymous	15/15	-	1
5-21751905-T-C	c.2326A>G	p.K776E	Missense	15/15	-	1
5-21751908-A-C	c.2323T>G	p.F775V	Missense	15/15	-	1
5-21751910-C-T	c.2321G>A	p.R774H	Missense	15/15	-	4
5-21751911-G-A	c.2320C>T	p.R774C	Missense	15/15	-	1
5-21751911-G-T	c.2320C>A	p.R774S	Missense	15/15	-	1
5-21751912-G-T	c.2319C>A	p.P773=	Synonymous	15/15	-	1
5-21751914-G-A	c.2317C>T	p.P773S	Missense	15/15	-	1
5-21751916-C-G	c.2315G>C	p.G772A	Missense	15/15	-	1
5-21751917-C-G	c.2314G>C	p.G772R	Missense	15/15	-	1
5-21751917-C-T	c.2314G>A	p.G772R	Missense	15/15	-	1
5-21751918-C-A	c.2313G>T	p.W771C	Missense	15/15	-	1
5-21751918-C-G	c.2313G>C	p.W771C	Missense	15/15	-	1
5-21751918-C-T	c.2313G>A	p.W771*	Nonsense	15/15	-	2
5-21751919-C-T	c.2312G>A	p.W771*	Nonsense	15/15	-	2
5-21751923-C-A	c.2308G>T	p.D770Y	Missense	15/15	-	3
5-21751926-T-A	c.2305A>T	p.T769S	Missense	15/15	-	1
5-21751927-C-T	c.2304G>A	p.L768=	Synonymous	15/15	-	1
5-21751934-T-C	c.2297A>G	p.D766G	Missense	15/15	-	1
5-21751935-C-A	c.2296G>T	p.D766Y	Missense	15/15	-	3
5-21751939-G-C	c.2292C>G	p.D764E	Missense	15/15	-	2
5-21751939-G-T	c.2292C>A	p.D764E	Missense	15/15	-	2
5-21751940-T-A	c.2291A>T	p.D764V	Missense	15/15	-	1
5-21751941-C-G	c.2290G>C	p.D764H	Missense	15/15	-	2
5-21751944-G-A	c.2287C>T	p.Q763*	Nonsense	15/15	-	1
5-21751945-G-T	c.2286C>A	p.D762E	Missense	15/15	-	2
5-21751947-C-T	c.2284G>A	p.D762N	Missense	15/15	-	2
5-21751948-G-A	c.2283C>T	p.A761=	Synonymous	15/15	-	1
5-21751950-C-T	c.2281G>A	p.A761T	Missense	15/15	-	2
5-21751951-T-C	c.2280A>G	p.E760=	Synonymous	15/15	-	3
5-21751955-G-A	c.2276C>T	p.T759I	Missense	15/15	-	1
5-21751957-G-A	c.2274C>T	p.T758=	Synonymous	15/15	-	1
5-21751958-G-C	c.2273C>G	p.T758S	Missense	15/15	-	1
5-21751959-T-A	c.2272A>T	p.T758S	Missense	15/15	-	1
5-21751959-T-C	c.2272A>G	p.T758A	Missense	15/15	-	1
5-21751960-G-A	c.2271C>T	p.L757=	Synonymous	15/15	-	1
5-21751960-G-C	c.2271C>G	p.L757=	Synonymous	15/15	-	1
5-21751960-G-T	c.2271C>A	p.L757=	Synonymous	15/15	-	1
5-21751963-A-C	c.2268T>G	p.S756=	Synonymous	15/15	-	1
5-21751963-A-G	c.2268T>C	p.S756=	Synonymous	15/15	-	1
5-21751963-A-T	c.2268T>A	p.S756=	Synonymous	15/15	-	1
5-21751959-TGA-T	c.2270_2271del	p.L757Hfs*9	Frameshift	15/15	-	1
5-21751965-A-T	c.2266T>A	p.S756T	Missense	15/15	-	1
5-21751972-A-C	c.2259T>G	p.S753=	Synonymous	15/15	-	1
5-21751972-A-G	c.2259T>C	p.S753=	Synonymous	15/15	-	1
5-21751976-C-A	c.2255G>T	p.S752I	Missense	15/15	-	1
5-21751976-CT-AA	c.2254_2255delinsTT	p.S752F	Missense	15/15	-	1
5-21751978-GAG-TTA	c.2251_2253delinsTAA	p.L751*	Nonsense	15/15	-	1
5-21751980-G-A	c.2251C>T	p.L751F	Missense	15/15	-	1
5-21751981-G-A	c.2250C>T	p.S750=	Synonymous	15/15	-	2
5-21751986-C-G	c.2245G>C	p.E749Q	Missense	15/15	-	1
5-21751989-C-T	c.2242G>A	p.A748T	Missense	15/15	-	5
5-21751992-C-T	c.2239G>A	p.V747M	Missense	15/15	-	8
5-21751993-G-A	c.2238C>T	p.S746=	Synonymous	15/15	-	4
5-21751993-G-C	c.2238C>G	p.S746=	Synonymous	15/15	-	2
5-21751993-G-T	c.2238C>A	p.S746=	Synonymous	15/15	-	2
5-21751994-G-T	c.2237C>A	p.S746Y	Missense	15/15	-	1
5-21752000-C-G	c.2231G>C	p.S744T	Missense	15/15	-	1
5-21752000-C-T	c.2231G>A	p.S744N	Missense	15/15	-	2
5-21752001-T-A	c.2230A>T	p.S744C	Missense	15/15	-	3
5-21752002-CCC-GCT	c.2227_2229delinsAGC	p.G743S	Missense	15/15	-	1
5-21752004-C-T	c.2227G>A	p.G743R	Missense	15/15	-	1
5-21752007-C-A	c.2224G>T	p.E742*	Nonsense	15/15	-	1
5-21752007-C-T	c.2224G>A	p.E742K	Missense	15/15	-	11
5-21752008-G-A	c.2223C>T	p.Y741=	Synonymous	15/15	-	3
5-21752011-G-T	c.2220C>A	p.A740=	Synonymous	15/15	-	1
5-21752012-G-A	c.2219C>T	p.A740V	Missense	15/15	-	1
5-21752014-A-G	c.2217T>C	p.Y739=	Synonymous	15/15	-	1
5-21752017-T-A	c.2214A>T	p.T738=	Synonymous	15/15	-	1
5-21752017-T-C	c.2214A>G	p.T738=	Synonymous	15/15	-	1
5-21752017-T-G	c.2214A>C	p.T738=	Synonymous	15/15	-	1
5-21752021-G-T	c.2210C>A	p.A737D	Missense	15/15	-	2
5-21752023-C-A	c.2208G>T	p.L736=	Synonymous	15/15	-	1
5-21752023-C-G	c.2208G>C	p.L736=	Synonymous	15/15	-	1
5-21752023-C-T	c.2208G>A	p.L736=	Synonymous	15/15	-	1
5-21752025-G-A	c.2206C>T	p.L736=	Synonymous	15/15	-	1
5-21752024-A-C	c.2207T>G	p.L736R	Missense	15/15	-	1
5-21752028-A-C	c.2203T>G	p.S735A	Missense	15/15	-	1
5-21752031-C-T	c.2200G>A	p.D734N	Missense	15/15	-	7
5-21752032-G-A	c.2199C>T	p.Y733=	Synonymous	15/15	-	4
5-21752036-G-A	c.2195C>T	p.P732L	Missense	15/15	-	1
5-21752037-G-T	c.2194C>A	p.P732T	Missense	15/15	-	1
5-21752041-G-A	c.2190C>T	p.A730=	Synonymous	15/15	-	1
5-21752045-G-A	c.2186C>T	p.T729I	Missense	15/15	-	1
5-21752049-G-T	c.2182C>A	p.P728T	Missense	15/15	-	2
5-21752050-A-G	c.2181T>C	p.D727=	Synonymous	15/15	-	22
5-21752052-C-T	c.2179G>A	p.D727N	Missense	15/15	-	1
5-21752056-A-G	c.2175T>C	p.D725=	Synonymous	15/15	-	23
5-21752057-T-A	c.2174A>T	p.D725V	Missense	15/15	-	1
5-21752058-C-T	c.2173G>A	p.D725N	Missense	15/15	-	6
5-21752063-T-A	c.2168A>T	p.E723V	Missense	15/15	-	1
5-21752064-C-T	c.2167G>A	p.E723K	Missense	15/15	-	3
5-21752067-G-C	c.2164C>G	p.Q722E	Missense	15/15	-	1
5-21752076-G-A	c.2155C>T	p.Q719*	Nonsense	15/15	-	5
5-21752079-G-T	c.2152C>A	p.H718N	Missense	15/15	-	2
5-21752083-G-A	c.2148C>T	p.F716=	Synonymous	15/15	-	1
5-21752089-C-T	c.2142G>A	p.R714=	Synonymous	15/15	-	1
5-21752099-G-T	c.2132C>A	p.T711K	Missense	15/15	-	1
5-21752100-T-G	c.2131A>C	p.T711P	Missense	15/15	-	2
5-21752106-C-G	c.2125G>C	p.D709H	Missense	15/15	-	2
5-21752109-C-A	c.2122G>T	p.E708*	Nonsense	15/15	-	3
5-21752109-C-T	c.2122G>A	p.E708K	Missense	15/15	-	6
5-21752113-G-A	c.2118C>T	p.P706=	Synonymous	15/15	-	1
5-21752113-G-C	c.2118C>G	p.P706=	Synonymous	15/15	-	1
5-21752113-G-T	c.2118C>A	p.P706=	Synonymous	15/15	-	1
5-21752115-G-A	c.2116C>T	p.P706S	Missense	15/15	-	1
5-21752115-G-T	c.2116C>A	p.P706T	Missense	15/15	-	6
5-21752126-C-T	c.2105G>A	p.R702H	Missense	15/15	-	3
5-21752127-G-A	c.2104C>T	p.R702C	Missense	15/15	-	9
5-21752129-G-C	c.2102C>G	p.P701R	Missense	15/15	-	1
5-21752129-G-T	c.2102C>A	p.P701H	Missense	15/15	-	1
5-21752130-G-A	c.2101C>T	p.P701S	Missense	15/15	-	1
5-21752132-A-G	c.2099T>C	p.L700S	Missense	15/15	-	1
5-21752135-C-G	c.2096G>C	p.C699S	Missense	15/15	-	1
5-21752136-A-T	c.2095T>A	p.C699S	Missense	15/15	-	1
5-21752142-A-G	c.2089T>C	p.S697P	Missense	15/15	-	1
5-21752142-A-T	c.2089T>A	p.S697T	Missense	15/15	-	1
5-21752143-G-C	c.2088C>G	p.D696E	Missense	15/15	-	2
5-21752143-G-T	c.2088C>A	p.D696E	Missense	15/15	-	3
5-21752144-T-C	c.2087A>G	p.D696G	Missense	15/15	-	1
5-21752147-G-A	c.2084C>T	p.P695L	Missense	15/15	-	1
5-21752148-G-A	c.2083C>T	p.P695S	Missense	15/15	-	6
5-21752149-T-A	c.2082A>T	p.K694N	Missense	15/15	-	4
5-21752149-T-G	c.2082A>C	p.K694N	Missense	15/15	-	3
5-21752151-T-G	c.2080A>C	p.K694Q	Missense	15/15	-	1
5-21752152-T-C	c.2079A>G	p.I693M	Missense	15/15	-	1
5-21752152-T-G	c.2079A>C	p.I693=	Synonymous	15/15	-	2
5-21752155-A-C	c.2076T>G	p.D692E	Missense	15/15	-	1
5-21752155-A-T	c.2076T>A	p.D692E	Missense	15/15	-	1
5-21752158-C-A	c.2073G>T	p.R691S	Missense	15/15	-	1
5-21752158-C-G	c.2073G>C	p.R691S	Missense	15/15	-	1
5-21752160-T-G	c.2071A>C	p.R691=	Synonymous	15/15	-	1
5-21752162-C-T	c.2069G>A	p.R690H	Missense	15/15	-	5
5-21752163-G-A	c.2068C>T	p.R690C	Missense	15/15	-	9
5-21752163-G-C	c.2068C>G	p.R690G	Missense	15/15	-	1
5-21752166-T-C	c.2065A>G	p.I689V	Missense	15/15	-	1
5-21752167-T-A	c.2064A>T	p.K688N	Missense	15/15	-	1
5-21752167-T-G	c.2064A>C	p.K688N	Missense	15/15	-	2
5-21752170-G-A	c.2061C>T	p.N687=	Synonymous	15/15	-	1
5-21752171-T-A	c.2060A>T	p.N687I	Missense	15/15	-	1
5-21752175-C-T	c.2056G>A	p.E686K	Missense	15/15	-	2
5-21752178-C-T	c.2053G>A	p.E685K	Missense	15/15	-	1
5-21752180-A-G	c.2051T>C	p.I684T	Missense	15/15	-	3
5-21752184-C-A	c.2047G>T	p.V683L	Missense	15/15	-	4
5-21752184-C-G	c.2047G>C	p.V683L	Missense	15/15	-	2
5-21752185-T-C	c.2046A>G	p.K682=	Synonymous	15/15	-	1
5-21752186-T-G	c.2045A>C	p.K682T	Missense	15/15	-	1
5-21752189-G-C	c.2042C>G	p.P681R	Missense	15/15	-	1
5-21752190-G-T	c.2041C>A	p.P681T	Missense	15/15	-	2
5-21752191-G-C	c.2040C>G	p.N680K	Missense	15/15	-	1
5-21752191-G-T	c.2040C>A	p.N680K	Missense	15/15	-	2
5-21752195-C-T	c.2036G>A	p.R679K	Missense	15/15	-	2
5-21752195-CT-TG	c.2035_2036delinsCA	p.R679Q	Missense	15/15	-	1
5-21752201-G-A	c.2030C>T	p.A677V	Missense	15/15	-	2
5-21752203-C-A	c.2028G>T	p.G676=	Synonymous	15/15	-	1
5-21752203-CCC-ACA	c.2026_2028delinsTGT	p.G676C	Missense	15/15	-	1
5-21752204-C-A	c.2027G>T	p.G676V	Missense	15/15	-	1
5-21752205-C-A	c.2026G>T	p.G676W	Missense	15/15	-	2
5-21752205-C-G	c.2026G>C	p.G676R	Missense	15/15	-	1
5-21752205-C-T	c.2026G>A	p.G676R	Missense	15/15	-	1
5-21752206-G-A	c.2025C>T	p.I675=	Synonymous	15/15	-	1
5-21752206-G-C	c.2025C>G	p.I675M	Missense	15/15	-	1
5-21752206-G-T	c.2025C>A	p.I675=	Synonymous	15/15	-	1
5-21752208-T-A	c.2023A>T	p.I675F	Missense	15/15	-	1
5-21752208-T-C	c.2023A>G	p.I675V	Missense	15/15	-	2
5-21752209-G-A	c.2022C>T	p.D674=	Synonymous	15/15	-	1
5-21752211-C-T	c.2020G>A	p.D674N	Missense	15/15	-	10
5-21752212-G-A	c.2019C>T	p.F673=	Synonymous	15/15	-	2
5-21752217-C-G	c.2014G>C	p.A672P	Missense	15/15	-	3
5-21752217-C-T	c.2014G>A	p.A672T	Missense	15/15	-	1
5-21752220-G-T	c.2011C>A	p.Q671K	Missense	15/15	-	1
5-21752221-G-T	c.2010C>A	p.T670=	Synonymous	15/15	-	1
5-21752222-G-A	c.2009C>T	p.T670I	Missense	15/15	-	2
5-21752222-G-T	c.2009C>A	p.T670N	Missense	15/15	-	2
5-21752226-C-G	c.2005G>C	p.D669H	Missense	15/15	-	3
5-21752226-C-T	c.2005G>A	p.D669N	Missense	15/15	-	2
5-21752229-C-A	c.2002G>T	p.E668*	Nonsense	15/15	-	1
5-21752229-C-T	c.2002G>A	p.E668K	Missense	15/15	-	5
5-21752230-C-T	c.2001G>A	p.E667=	Synonymous	15/15	-	4
5-21752232-C-A	c.1999G>T	p.E667*	Nonsense	15/15	-	1
5-21752234-C-A	c.1997G>T	p.G666V	Missense	15/15	-	1
5-21752234-C-G	c.1997G>C	p.G666A	Missense	15/15	-	1
5-21752239-T-A	c.1992A>T	p.G664=	Synonymous	15/15	-	1
5-21752239-T-C	c.1992A>G	p.G664=	Synonymous	15/15	-	1
5-21752239-T-G	c.1992A>C	p.G664=	Synonymous	15/15	-	1
5-21752240-C-A	c.1991G>T	p.G664V	Missense	15/15	-	3
5-21752240-C-T	c.1991G>A	p.G664E	Missense	15/15	-	2
5-21752241-C-A	c.1990G>T	p.G664*	Nonsense	15/15	-	1
5-21752243-T-C	c.1988A>G	p.E663G	Missense	15/15	-	3
5-21752244-C-T	c.1987G>A	p.E663K	Missense	15/15	-	2
5-21752245-A-C	c.1986T>G	p.D662E	Missense	15/15	-	1
5-21752245-A-T	c.1986T>A	p.D662E	Missense	15/15	-	1
5-21752247-C-A	c.1984G>T	p.D662Y	Missense	15/15	-	1
5-21752249-T-C	c.1982A>G	p.D661G	Missense	15/15	-	1
5-21752250-C-A	c.1981G>T	p.D661Y	Missense	15/15	-	1
5-21752250-C-T	c.1981G>A	p.D661N	Missense	15/15	-	1
5-21752251-G-A	c.1980C>T	p.Y660=	Synonymous	15/15	-	1
5-21752252-T-C	c.1979A>G	p.Y660C	Missense	15/15	-	1
5-21752253-A-T	c.1978T>A	p.Y660N	Missense	15/15	-	1
5-21752255-T-C	c.1976A>G	p.H659R	Missense	15/15	-	2
5-21752257-G-A	c.1974C>T	p.I658=	Synonymous	15/15	-	2
5-21752257-G-T	c.1974C>A	p.I658=	Synonymous	15/15	-	1
5-21752261-A-G	c.1970T>C	p.V657A	Missense	15/15	-	3
5-21752262-C-T	c.1969G>A	p.V657I	Missense	15/15	-	4
5-21752263-G-A	c.1968C>T	p.N656=	Synonymous	15/15	-	1
5-21752263-G-C	c.1968C>G	p.N656K	Missense	15/15	-	1
5-21752263-G-T	c.1968C>A	p.N656K	Missense	15/15	-	1
5-21752264-T-C	c.1967A>G	p.N656S	Missense	15/15	-	1
5-21752265-T-C	c.1966A>G	p.N656D	Missense	15/15	-	1
5-21752268-C-A	c.1963G>T	p.D655Y	Missense	15/15	-	3
5-21752268-C-G	c.1963G>C	p.D655H	Missense	15/15	-	3
5-21752268-C-T	c.1963G>A	p.D655N	Missense	15/15	-	6
5-21752272-G-A	c.1959C>T	p.I653=	Synonymous	15/15	-	1
5-21752272-G-T	c.1959C>A	p.I653=	Synonymous	15/15	-	1
5-21752274-T-C	c.1957A>G	p.I653V	Missense	15/15	-	1
5-21752277-C-A	c.1954G>T	p.D652Y	Missense	15/15	-	1
5-21752277-C-CA	c.1953_1954insT	p.D652*	Nonsense	15/15	-	1
5-21752277-C-T	c.1954G>A	p.D652N	Missense	15/15	-	2
5-21752278-T-A	c.1953A>T	p.E651D	Missense	15/15	-	1
5-21752280-C-A	c.1951G>T	p.E651*	Nonsense	15/15	-	1
5-21752280-C-T	c.1951G>A	p.E651K	Missense	15/15	-	1
5-21752283-T-A	c.1948A>T	p.K650*	Nonsense	15/15	-	2
5-21752285-G-C	c.1946C>G	p.S649C	Missense	15/15	-	1
5-21752287-G-A	c.1944C>T	p.T648=	Synonymous	15/15	-	1
5-21752294-A-G	c.1937T>C	p.L646P	Missense	15/15	-	1
5-21752299-G-T	c.1932C>A	p.D644E	Missense	15/15	-	1
5-21752301-C-A	c.1930G>T	p.D644Y	Missense	15/15	-	2
5-21752306-T-A	c.1925A>T	p.K642I	Missense	15/15	-	1
5-21752306-T-C	c.1925A>G	p.K642R	Missense	15/15	-	1
5-21752308-C-A	c.1923G>T	p.K641N	Missense	15/15	-	1
5-21752308-C-G	c.1923G>C	p.K641N	Missense	15/15	-	1
5-21752308-C-T	c.1923G>A	p.K641=	Synonymous	15/15	-	1
5-21752313-G-T	c.1918C>A	p.Q640K	Missense	15/15	-	4
5-21752314-C-A	c.1917G>T	p.R639S	Missense	15/15	-	1
5-21752314-C-G	c.1917G>C	p.R639S	Missense	15/15	-	1
5-21752315-C-T	c.1916G>A	p.R639K	Missense	15/15	-	1
5-21752318-C-T	c.1913G>A	p.R638Q	Missense	15/15	-	5
5-21752319-G-A	c.1912C>T	p.R638*	Nonsense	15/15	-	4
5-21752321-A-G	c.1910T>C	p.L637P	Missense	15/15	-	1
5-21752321-A-T	c.1910T>A	p.L637Q	Missense	15/15	-	4
5-21752324-G-A	c.1907C>T	p.A636V	Missense	15/15	-	1
5-21752327-A-T	c.1904T>A	p.V635E	Missense	15/15	-	3
5-21752328-C-T	c.1903G>A	p.V635I	Missense	15/15	-	1
5-21752329-A-G	c.1902T>C	p.Y634=	Synonymous	15/15	-	1
5-21752332-C-A	c.1899G>T	p.L633=	Synonymous	15/15	-	1
5-21752332-C-G	c.1899G>C	p.L633=	Synonymous	15/15	-	1
5-21752332-C-T	c.1899G>A	p.L633=	Synonymous	15/15	-	1
5-21752334-G-A	c.1897C>T	p.L633=	Synonymous	15/15	-	1
5-21752337-C-T	c.1894G>A	p.V632I	Missense	15/15	-	1
5-21752338-A-C	c.1893T>G	p.V631=	Synonymous	15/15	-	3
5-21752338-A-G	c.1893T>C	p.V631=	Synonymous	15/15	-	2
5-21752338-A-T	c.1893T>A	p.V631=	Synonymous	15/15	-	2
5-21755653-G-A	c.1885+47C>T	-	IntronicSNV	-	14/14	1
5-21755699-C-A	c.1885+1G>T	-	IntronicSNV	-	14/14	1
5-21755705-A-C	c.1880T>G	p.L627R	Missense	14/15	-	1
5-21755706-G-A	c.1879C>T	p.L627F	Missense	14/15	-	4
5-21755711-A-C	c.1874T>G	p.V625G	Missense	14/15	-	3
5-21755715-T-A	c.1870A>T	p.I624F	Missense	14/15	-	1
5-21755724-G-T	c.1861C>A	p.L621I	Missense	14/15	-	5
5-21755729-G-T	c.1856C>A	p.A619E	Missense	14/15	-	1
5-21755730-C-G	c.1855G>C	p.A619P	Missense	14/15	-	1
5-21755733-T-A	c.1852A>T	p.I618F	Missense	14/15	-	1
5-21755733-T-C	c.1852A>G	p.I618V	Missense	14/15	-	1
5-21755734-C-A	c.1851G>T	p.L617F	Missense	14/15	-	2
5-21755734-C-G	c.1851G>C	p.L617F	Missense	14/15	-	2
5-21755736-A-G	c.1849T>C	p.L617=	Synonymous	14/15	-	2
5-21755737-C-T	c.1848G>A	p.A616=	Synonymous	14/15	-	1
5-21755738-G-T	c.1847C>A	p.A616E	Missense	14/15	-	3
5-21755739-C-A	c.1846G>T	p.A616S	Missense	14/15	-	1
5-21755741-C-A	c.1844G>T	p.G615V	Missense	14/15	-	3
5-21755742-C-A	c.1843G>T	p.G615W	Missense	14/15	-	2
5-21755747-C-T	c.1838G>A	p.S613N	Missense	14/15	-	1
5-21755750-A-G	c.1835T>C	p.L612P	Missense	14/15	-	2
5-21755753-C-T	c.1832G>A	p.G611E	Missense	14/15	-	5
5-21755755-T-C	c.1830A>G	p.V610=	Synonymous	14/15	-	1
5-21755756-A-G	c.1829T>C	p.V610A	Missense	14/15	-	1
5-21755762-A-G	c.1823T>C	p.L608P	Missense	14/15	-	3
5-21755762-A-T	c.1823T>A	p.L608Q	Missense	14/15	-	3
5-21755763-G-C	c.1822C>G	p.L608V	Missense	14/15	-	1
5-21755763-G-T	c.1822C>A	p.L608I	Missense	14/15	-	1
5-21755770-T-C	c.1815A>G	p.A605=	Synonymous	14/15	-	1
5-21755772-C-A	c.1813G>T	p.A605S	Missense	14/15	-	1
5-21755772-C-T	c.1813G>A	p.A605T	Missense	14/15	-	1
5-21755775-C-A	c.1810G>T	p.E604*	Nonsense	14/15	-	1
5-21755775-C-T	c.1810G>A	p.E604K	Missense	14/15	-	1
5-21755776-C-A	c.1809G>T	p.V603=	Synonymous	14/15	-	1
5-21755776-C-G	c.1809G>C	p.V603=	Synonymous	14/15	-	1
5-21755776-C-T	c.1809G>A	p.V603=	Synonymous	14/15	-	1
5-21755777-A-T	c.1808T>A	p.V603E	Missense	14/15	-	2
5-21755779-A-C	c.1806T>G	p.N602K	Missense	14/15	-	2
5-21755779-A-T	c.1806T>A	p.N602K	Missense	14/15	-	1
5-21755780-T-A	c.1805A>T	p.N602I	Missense	14/15	-	1
5-21755783-C-T	c.1802G>A	p.C601Y	Missense	14/15	-	1
5-21755790-G-A	c.1795C>T	p.L599=	Synonymous	14/15	-	1
5-21755791-G-A	c.1794C>T	p.I598=	Synonymous	14/15	-	1
5-21755791-G-T	c.1794C>A	p.I598=	Synonymous	14/15	-	1
5-21755792-A-T	c.1793T>A	p.I598N	Missense	14/15	-	1
5-21755794-G-A	c.1791C>T	p.T597=	Synonymous	14/15	-	2
5-21755794-G-C	c.1791C>G	p.T597=	Synonymous	14/15	-	2
5-21755794-GG-CC	c.1790_1791inv	p.T597R	Missense	14/15	-	1
5-21755794-G-T	c.1791C>A	p.T597=	Synonymous	14/15	-	2
5-21755795-G-A	c.1790C>T	p.T597I	Missense	14/15	-	1
5-21755795-G-T	c.1790C>A	p.T597N	Missense	14/15	-	1
5-21755799-C-A	c.1786G>T	p.G596C	Missense	14/15	-	1
5-21755799-C-T	c.1786G>A	p.G596S	Missense	14/15	-	1
5-21755802-C-T	c.1783G>A	p.D595N	Missense	14/15	-	1
5-21755804-G-C	c.1781C>G	p.S594C	Missense	14/15	-	1
5-21755809-A-G	c.1776T>C	p.C592=	Synonymous	14/15	-	1
5-21755818-G-T	c.1767C>A	p.V589=	Synonymous	14/15	-	1
5-21755819-A-G	c.1766T>C	p.V589A	Missense	14/15	-	5
5-21755820-C-G	c.1765G>C	p.V589L	Missense	14/15	-	1
5-21755822-C-G	c.1763G>C	p.R588P	Missense	14/15	-	5
5-21755822-C-T	c.1763G>A	p.R588Q	Missense	14/15	-	5
5-21755823-G-A	c.1762C>T	p.R588*	Nonsense	14/15	-	2
5-21755826-T-C	c.1759A>G	p.I587V	Missense	14/15	-	1
5-21755829-T-G	c.1756A>C	p.T586P	Missense	14/15	-	1
5-21755830-C-T	c.1755G>A	p.M585I	Missense	14/15	-	1
5-21755831-A-C	c.1754T>G	p.M585R	Missense	14/15	-	1
5-21755833-T-A	c.1752A>T	p.T584=	Synonymous	14/15	-	1
5-21755833-T-C	c.1752A>G	p.T584=	Synonymous	14/15	-	1
5-21755833-T-G	c.1752A>C	p.T584=	Synonymous	14/15	-	1
5-21755833-TGT-ACA	c.1750_1752inv	p.T584C	Missense	14/15	-	1
5-21755838-T-A	c.1747A>T	p.N583Y	Missense	14/15	-	4
5-21755840-G-A	c.1745C>T	p.T582I	Missense	14/15	-	4
5-21755842-G-C	c.1743C>G	p.S581R	Missense	14/15	-	1
5-21755842-G-T	c.1743C>A	p.S581R	Missense	14/15	-	1
5-21755844-T-G	c.1741A>C	p.S581R	Missense	14/15	-	1
5-21755845-G-T	c.1740C>A	p.S580R	Missense	14/15	-	1
5-21755850-G-A	c.1735C>T	p.Q579*	Nonsense	14/15	-	2
5-21755857-G-T	c.1728C>A	p.Y576*	Nonsense	14/15	-	1
5-21755861-C-G	c.1724G>C	p.S575T	Missense	14/15	-	3
5-21755861-CT-TA	c.1723_1724delinsTA	p.S575Y	Missense	14/15	-	1
5-21755864-C-T	c.1721G>A	p.S574N	Missense	14/15	-	5
5-21755866-G-T	c.1719C>A	p.D573E	Missense	14/15	-	1
5-21755869-T-A	c.1716A>T	p.E572D	Missense	14/15	-	1
5-21755869-T-G	c.1716A>C	p.E572D	Missense	14/15	-	1
5-21755871-C-T	c.1714G>A	p.E572K	Missense	14/15	-	4
5-21755873-A-G	c.1712T>C	p.I571T	Missense	14/15	-	1
5-21755875-T-A	c.1710A>T	p.V570=	Synonymous	14/15	-	1
5-21755875-T-C	c.1710A>G	p.V570=	Synonymous	14/15	-	1
5-21755875-T-G	c.1710A>C	p.V570=	Synonymous	14/15	-	1
5-21755880-C-T	c.1705G>A	p.V569I	Missense	14/15	-	1
5-21755884-G-A	c.1701C>T	p.L567=	Synonymous	14/15	-	4
5-21755886-G-A	c.1699C>T	p.L567F	Missense	14/15	-	1
5-21755886-G-T	c.1699C>A	p.L567I	Missense	14/15	-	1
5-21755904-G-C	c.1681C>G	p.Q561E	Missense	14/15	-	1
5-21755905-C-G	c.1680G>C	p.R560S	Missense	14/15	-	1
5-21755909-C-G	c.1676G>C	p.R559P	Missense	14/15	-	1
5-21755909-C-T	c.1676G>A	p.R559H	Missense	14/15	-	8
5-21755910-G-A	c.1675C>T	p.R559C	Missense	14/15	-	4
5-21755915-T-A	c.1670A>T	p.Y557F	Missense	14/15	-	1
5-21755915-T-C	c.1670A>G	p.Y557C	Missense	14/15	-	1
5-21755916-A-G	c.1669T>C	p.Y557H	Missense	14/15	-	1
5-21755924-C-A	c.1661G>T	p.R554I	Missense	14/15	-	1
5-21755924-CT-TG	c.1660_1661delinsCA	p.R554Q	Missense	14/15	-	1
5-21755927-C-T	c.1658G>A	p.R553Q	Missense	14/15	-	8
5-21755928-G-C	c.1657C>G	p.R553G	Missense	14/15	-	1
5-21755934-C-T	c.1651G>A	p.E551K	Missense	14/15	-	2
5-21755940-C-G	c.1645G>C	p.G549R	Missense	14/15	-	2
5-21755940-C-T	c.1645G>A	p.G549R	Missense	14/15	-	3
5-21755941-C-A	c.1644G>T	p.A548=	Synonymous	14/15	-	3
5-21755941-C-G	c.1644G>C	p.A548=	Synonymous	14/15	-	2
5-21755941-C-T	c.1644G>A	p.A548=	Synonymous	14/15	-	3
5-21755943-C-T	c.1642G>A	p.A548T	Missense	14/15	-	1
5-21755944-T-A	c.1641A>T	p.T547=	Synonymous	14/15	-	2
5-21755944-T-C	c.1641A>G	p.T547=	Synonymous	14/15	-	2
5-21755944-T-G	c.1641A>C	p.T547=	Synonymous	14/15	-	2
5-21755945-G-A	c.1640C>T	p.T547I	Missense	14/15	-	1
5-21755947-G-T	c.1638C>A	p.N546K	Missense	14/15	-	1
5-21760602-C-A	c.1633+65G>T	-	IntronicSNV	-	13/14	6
5-21760667-T-C	c.1633A>G	p.N545D	Missense	13/15	-	1
5-21760669-C-A	c.1631G>T	p.R544I	Missense	13/15	-	1
5-21760671-G-A	c.1629C>T	p.F543=	Synonymous	13/15	-	1
5-21760679-G-A	c.1621C>T	p.R541C	Missense	13/15	-	7
5-21760684-G-T	c.1616C>A	p.T539K	Missense	13/15	-	1
5-21760691-T-G	c.1609A>C	p.N537H	Missense	13/15	-	2
5-21760692-T-A	c.1608A>T	p.P536=	Synonymous	13/15	-	1
5-21760692-T-C	c.1608A>G	p.P536=	Synonymous	13/15	-	1
5-21760692-T-G	c.1608A>C	p.P536=	Synonymous	13/15	-	1
5-21760694-G-A	c.1606C>T	p.P536S	Missense	13/15	-	1
5-21760696-T-A	c.1604A>T	p.K535I	Missense	13/15	-	2
5-21760696-T-G	c.1604A>C	p.K535T	Missense	13/15	-	2
5-21760698-G-A	c.1602C>T	p.I534=	Synonymous	13/15	-	4
5-21760704-A-C	c.1596T>G	p.A532=	Synonymous	13/15	-	1
5-21760704-A-G	c.1596T>C	p.A532=	Synonymous	13/15	-	1
5-21760704-A-T	c.1596T>A	p.A532=	Synonymous	13/15	-	1
5-21760705-G-A	c.1595C>T	p.A532V	Missense	13/15	-	1
5-21760706-C-T	c.1594G>A	p.A532T	Missense	13/15	-	1
5-21760707-C-A	c.1593G>T	p.E531D	Missense	13/15	-	1
5-21760707-C-G	c.1593G>C	p.E531D	Missense	13/15	-	1
5-21760711-G-C	c.1589C>G	p.P530R	Missense	13/15	-	1
5-21760714-G-A	c.1586C>T	p.S529L	Missense	13/15	-	8
5-21760717-AA-GG	c.1582_1583delinsCC	p.L528P	Missense	13/15	-	1
5-21760718-A-C	c.1582T>G	p.L528V	Missense	13/15	-	1
5-21760720-C-G	c.1580G>C	p.R527T	Missense	13/15	-	2
5-21760725-G-A	c.1575C>T	p.S525=	Synonymous	13/15	-	1
5-21760726-G-A	c.1574C>T	p.S525F	Missense	13/15	-	5
5-21760728-G-C	c.1572C>G	p.F524L	Missense	13/15	-	4
5-21760728-G-T	c.1572C>A	p.F524L	Missense	13/15	-	4
5-21760730-A-G	c.1570T>C	p.F524L	Missense	13/15	-	4
5-21760731-T-C	c.1569A>G	p.Q523=	Synonymous	13/15	-	5
5-21760733-G-T	c.1567C>A	p.Q523K	Missense	13/15	-	2
5-21760736-G-T	c.1564C>A	p.Q522K	Missense	13/15	-	1
5-21760741-G-A	c.1559C>T	p.A520V	Missense	13/15	-	2
5-21760741-G-T	c.1559C>A	p.A520D	Missense	13/15	-	1
5-21760744-G-A	c.1556C>T	p.P519L	Missense	13/15	-	1
5-21760745-G-A	c.1555C>T	p.P519S	Missense	13/15	-	1
5-21760745-G-T	c.1555C>A	p.P519T	Missense	13/15	-	1
5-21760747-G-A	c.1553C>T	p.S518L	Missense	13/15	-	1
5-21760751-G-C	c.1549C>G	p.L517V	Missense	13/15	-	1
5-21760751-G-T	c.1549C>A	p.L517I	Missense	13/15	-	2
5-21760755-TC-AT	c.1544_1545delinsAT	p.R515H	Missense	13/15	-	1
5-21760756-C-T	c.1544G>A	p.R515Q	Missense	13/15	-	15
5-21760757-G-A	c.1543C>T	p.R515*	Nonsense	13/15	-	2
5-21760760-C-T	c.1540G>A	p.D514N	Missense	13/15	-	3
5-21760762-G-A	c.1538C>T	p.A513V	Missense	13/15	-	1
5-21760765-G-A	c.1535C>T	p.A512V	Missense	13/15	-	1
5-21760768-C-A	c.1532G>T	p.S511I	Missense	13/15	-	1
5-21760769-T-C	c.1531A>G	p.S511G	Missense	13/15	-	2
5-21760770-G-A	c.1530C>T	p.V510=	Synonymous	13/15	-	2
5-21760770-G-C	c.1530C>G	p.V510=	Synonymous	13/15	-	2
5-21760770-G-T	c.1530C>A	p.V510=	Synonymous	13/15	-	3
5-21760776-C-A	c.1524G>T	p.Q508H	Missense	13/15	-	1
5-21760776-C-G	c.1524G>C	p.Q508H	Missense	13/15	-	1
5-21760780-A-G	c.1520T>C	p.I507T	Missense	13/15	-	1
5-21760782-T-C	c.1518A>G	p.I506M	Missense	13/15	-	4
5-21760810-G-A	c.1516-26C>T	-	IntronicSNV	-	12/14	1
5-21764627-G-A	c.1515+460C>T	-	IntronicSNV	-	12/14	1
5-21764627-G-T	c.1515+460C>A	-	IntronicSNV	-	12/14	1
5-21765028-A-T	c.1515+59T>A	-	IntronicSNV	-	12/14	1
5-21765088-T-A	c.1514A>T	p.Q505L	Missense	12/15	-	1
5-21765089-G-A	c.1513C>T	p.Q505*	Nonsense	12/15	-	1
5-21765090-TCC-ACA	c.1510_1512delinsTGT	p.G504C	Missense	12/15	-	1
5-21765090-TC-T	c.1511del	p.G504Dfs*3	Frameshift	12/15	-	2
5-21765093-T-A	c.1509A>T	p.P503=	Synonymous	12/15	-	1
5-21765094-G-C	c.1508C>G	p.P503R	Missense	12/15	-	1
5-21765097-T-C	c.1505A>G	p.K502R	Missense	12/15	-	1
5-21765097-T-G	c.1505A>C	p.K502T	Missense	12/15	-	5
5-21765099-G-A	c.1503C>T	p.A501=	Synonymous	12/15	-	3
5-21765099-G-C	c.1503C>G	p.A501=	Synonymous	12/15	-	3
5-21765099-G-T	c.1503C>A	p.A501=	Synonymous	12/15	-	3
5-21765100-G-A	c.1502C>T	p.A501V	Missense	12/15	-	4
5-21765101-C-T	c.1501G>A	p.A501T	Missense	12/15	-	1
5-21765107-C-T	c.1495G>A	p.E499K	Missense	12/15	-	5
5-21765107-TC-T	c.1495del	p.E499Kfs*8	Frameshift	12/15	-	1
5-21765109-C-A	c.1493G>T	p.C498F	Missense	12/15	-	4
5-21765109-C-G	c.1493G>C	p.C498S	Missense	12/15	-	1
5-21765110-A-T	c.1492T>A	p.C498S	Missense	12/15	-	1
5-21765113-C-A	c.1489G>T	p.V497L	Missense	12/15	-	2
5-21765113-C-G	c.1489G>C	p.V497L	Missense	12/15	-	2
5-21765113-C-T	c.1489G>A	p.V497M	Missense	12/15	-	7
5-21765114-G-T	c.1488C>A	p.A496=	Synonymous	12/15	-	1
5-21765120-C-T	c.1482G>A	p.E494=	Synonymous	12/15	-	1
5-21765121-T-A	c.1481A>T	p.E494V	Missense	12/15	-	1
5-21765122-C-T	c.1480G>A	p.E494K	Missense	12/15	-	2
5-21765123-A-G	c.1479T>C	p.Y493=	Synonymous	12/15	-	1
5-21765128-G-A	c.1474C>T	p.P492S	Missense	12/15	-	1
5-21765129-C-A	c.1473G>T	p.V491=	Synonymous	12/15	-	1
5-21765135-T-A	c.1467A>T	p.I489=	Synonymous	12/15	-	1
5-21765135-T-G	c.1467A>C	p.I489=	Synonymous	12/15	-	1
5-21765137-T-A	c.1465A>T	p.I489L	Missense	12/15	-	1
5-21765137-T-G	c.1465A>C	p.I489L	Missense	12/15	-	1
5-21765146-G-A	c.1456C>T	p.P486S	Missense	12/15	-	5
5-21765152-C-A	c.1450G>T	p.E484*	Nonsense	12/15	-	1
5-21765152-C-T	c.1450G>A	p.E484K	Missense	12/15	-	3
5-21765154-T-C	c.1448A>G	p.N483S	Missense	12/15	-	1
5-21765158-C-T	c.1444G>A	p.V482I	Missense	12/15	-	1
5-21765162-T-G	c.1440A>C	p.L480F	Missense	12/15	-	2
5-21765165-GAC-CAT	c.1435_1437delinsATG	p.V479M	Missense	12/15	-	1
5-21765167-C-T	c.1435G>A	p.V479I	Missense	12/15	-	1
5-21765175-A-G	c.1427T>C	p.L476P	Missense	12/15	-	2
5-21765178-A-G	c.1424T>C	p.I475T	Missense	12/15	-	4
5-21765180-A-C	c.1422T>G	p.N474K	Missense	12/15	-	1
5-21765180-A-T	c.1422T>A	p.N474K	Missense	12/15	-	2
5-21765185-C-G	c.1417G>C	p.V473L	Missense	12/15	-	1
5-21765188-T-C	c.1414A>G	p.K472E	Missense	12/15	-	2
5-21765189-G-C	c.1413C>G	p.S471R	Missense	12/15	-	1
5-21765189-G-T	c.1413C>A	p.S471R	Missense	12/15	-	1
5-21765191-T-G	c.1411A>C	p.S471R	Missense	12/15	-	1
5-21765192-G-T	c.1410C>A	p.T470=	Synonymous	12/15	-	1
5-21765193-G-T	c.1409C>A	p.T470N	Missense	12/15	-	3
5-21765195-C-A	c.1407G>T	p.L469F	Missense	12/15	-	1
5-21765196-A-C	c.1406T>G	p.L469W	Missense	12/15	-	1
5-21765198-T-A	c.1404A>T	p.L468F	Missense	12/15	-	1
5-21765198-T-G	c.1404A>C	p.L468F	Missense	12/15	-	1
5-21765206-T-A	c.1396A>T	p.N466Y	Missense	12/15	-	1
5-21765206-T-C	c.1396A>G	p.N466D	Missense	12/15	-	2
5-21765208-C-A	c.1394G>T	p.S465I	Missense	12/15	-	1
5-21765208-C-G	c.1394G>C	p.S465T	Missense	12/15	-	1
5-21765431-G-A	c.1394-223C>T	-	IntronicSNV	-	11/14	2
5-21772052-T-C	c.1394-6844A>G	-	IntronicSNV	-	11/14	1
5-21775620-C-T	c.1393+7847G>A	-	IntronicSNV	-	11/14	1
5-21775837-T-A	c.1393+7630A>T	-	IntronicSNV	-	11/14	1
5-21779154-T-C	c.1393+4313A>G	-	IntronicSNV	-	11/14	3
5-21779150-GT-G	c.1393+4316del	-	IntronicDeletion	-	11/14	1
5-21781738-C-A	c.1393+1729G>T	-	IntronicSNV	-	11/14	1
5-21781738-C-T	c.1393+1729G>A	-	IntronicSNV	-	11/14	1
5-21783309-A-T	c.1393+158T>A	-	IntronicSNV	-	11/14	1
5-21783374-C-A	c.1393+93G>T	-	IntronicSNV	-	11/14	1
5-21783439-A-G	c.1393+28T>C	-	IntronicSNV	-	11/14	1
5-21783444-G-A	c.1393+23C>T	-	IntronicSNV	-	11/14	1
5-21783467-T-A	c.1393A>T	p.S465C	Missense	11/15	-	1
5-21783470-C-T	c.1390G>A	p.V464I	Missense	11/15	-	6
5-21783471-T-A	c.1389A>T	p.K463N	Missense	11/15	-	2
5-21783471-T-G	c.1389A>C	p.K463N	Missense	11/15	-	2
5-21783474-A-C	c.1386T>G	p.S462R	Missense	11/15	-	1
5-21783474-A-T	c.1386T>A	p.S462R	Missense	11/15	-	1
5-21783476-T-G	c.1384A>C	p.S462R	Missense	11/15	-	1
5-21783475-C-T	c.1385G>A	p.S462N	Missense	11/15	-	1
5-21783477-C-T	c.1383G>A	p.A461=	Synonymous	11/15	-	3
5-21783478-G-A	c.1382C>T	p.A461V	Missense	11/15	-	9
5-21783481-A-G	c.1379T>C	p.I460T	Missense	11/15	-	4
5-21783484-A-G	c.1376T>C	p.I459T	Missense	11/15	-	2
5-21783487-G-A	c.1373C>T	p.S458F	Missense	11/15	-	1
5-21783489-G-A	c.1371C>T	p.F457=	Synonymous	11/15	-	1
5-21783489-G-T	c.1371C>A	p.F457L	Missense	11/15	-	2
5-21783489-G-C	c.1371C>G	p.F457L	Missense	11/15	-	1
5-21783491-A-G	c.1369T>C	p.F457L	Missense	11/15	-	1
5-21783494-T-C	c.1366A>G	p.N456D	Missense	11/15	-	1
5-21783499-T-C	c.1361A>G	p.Q454R	Missense	11/15	-	1
5-21783501-C-A	c.1359G>T	p.A453=	Synonymous	11/15	-	7
5-21783501-C-G	c.1359G>C	p.A453=	Synonymous	11/15	-	7
5-21783501-C-T	c.1359G>A	p.A453=	Synonymous	11/15	-	8
5-21783502-G-A	c.1358C>T	p.A453V	Missense	11/15	-	10
5-21783502-G-T	c.1358C>A	p.A453E	Missense	11/15	-	1
5-21783503-C-T	c.1357G>A	p.A453T	Missense	11/15	-	1
5-21783506-T-G	c.1354A>C	p.T452P	Missense	11/15	-	4
5-21783508-C-T	c.1352G>A	p.S451N	Missense	11/15	-	1
5-21783512-C-A	c.1348G>T	p.E450*	Nonsense	11/15	-	1
5-21783516-G-C	c.1344C>G	p.D448E	Missense	11/15	-	4
5-21783516-G-T	c.1344C>A	p.D448E	Missense	11/15	-	5
5-21783518-C-T	c.1342G>A	p.D448N	Missense	11/15	-	1
5-21783524-A-C	c.1336T>G	p.L446V	Missense	11/15	-	1
5-21783527-C-A	c.1333G>T	p.E445*	Nonsense	11/15	-	1
5-21783530-T-C	c.1330A>G	p.N444D	Missense	11/15	-	1
5-21783535-G-T	c.1325C>A	p.A442D	Missense	11/15	-	1
5-21783536-C-T	c.1324G>A	p.A442T	Missense	11/15	-	5
5-21783537-G-A	c.1323C>T	p.I441=	Synonymous	11/15	-	6
5-21783537-G-T	c.1323C>A	p.I441=	Synonymous	11/15	-	1
5-21783539-T-C	c.1321A>G	p.I441V	Missense	11/15	-	1
5-21783540-G-A	c.1320C>T	p.T440=	Synonymous	11/15	-	1
5-21783540-G-T	c.1320C>A	p.T440=	Synonymous	11/15	-	1
5-21783541-G-A	c.1319C>T	p.T440I	Missense	11/15	-	1
5-21783541-G-C	c.1319C>G	p.T440S	Missense	11/15	-	1
5-21783542-T-A	c.1318A>T	p.T440S	Missense	11/15	-	1
5-21783543-TCC-GCT	c.1315_1317delinsAGC	p.G439S	Missense	11/15	-	1
5-21783544-C-T	c.1316G>A	p.G439E	Missense	11/15	-	2
5-21783548-C-A	c.1312G>T	p.E438*	Nonsense	11/15	-	2
5-21783548-C-T	c.1312G>A	p.E438K	Missense	11/15	-	3
5-21783549-A-C	c.1311T>G	p.N437K	Missense	11/15	-	3
5-21783550-T-G	c.1310A>C	p.N437T	Missense	11/15	-	3
5-21783553-C-A	c.1307G>T	p.G436V	Missense	11/15	-	2
5-21783553-C-T	c.1307G>A	p.G436E	Missense	11/15	-	3
5-21783555-A-T	c.1305T>A	p.D435E	Missense	11/15	-	3
5-21783559-A-G	c.1301T>C	p.I434T	Missense	11/15	-	2
5-21783561-T-C	c.1299A>G	p.T433=	Synonymous	11/15	-	1
5-21783564-A-G	c.1296T>C	p.F432=	Synonymous	11/15	-	1
5-21783566-A-C	c.1294T>G	p.F432V	Missense	11/15	-	1
5-21783569-A-T	c.1291T>A	p.Y431N	Missense	11/15	-	1
5-21783570-G-T	c.1290C>A	p.S430R	Missense	11/15	-	1
5-21783573-G-C	c.1287C>G	p.D429E	Missense	11/15	-	3
5-21783574-T-C	c.1286A>G	p.D429G	Missense	11/15	-	1
5-21783575-C-A	c.1285G>T	p.D429Y	Missense	11/15	-	1
5-21783575-C-T	c.1285G>A	p.D429N	Missense	11/15	-	7
5-21783577-C-A	c.1283G>T	p.G428V	Missense	11/15	-	1
5-21783578-C-G	c.1282G>C	p.G428R	Missense	11/15	-	1
5-21783578-C-T	c.1282G>A	p.G428R	Missense	11/15	-	4
5-21783579-A-G	c.1281T>C	p.D427=	Synonymous	11/15	-	1
5-21783583-C-T	c.1277G>A	p.S426N	Missense	11/15	-	1
5-21783585-C-T	c.1275G>A	p.K425=	Synonymous	11/15	-	1
5-21783589-C-A	c.1271G>T	p.W424L	Missense	11/15	-	1
5-21783589-C-G	c.1271G>C	p.W424S	Missense	11/15	-	3
5-21783590-A-G	c.1270T>C	p.W424R	Missense	11/15	-	1
5-21783590-A-T	c.1270T>A	p.W424R	Missense	11/15	-	1
5-21783593-C-A	c.1267G>T	p.D423Y	Missense	11/15	-	1
5-21783598-A-C	c.1262T>G	p.F421C	Missense	11/15	-	1
5-21783599-A-C	c.1261T>G	p.F421V	Missense	11/15	-	1
5-21791912-C-T	c.1257-8309G>A	-	IntronicSNV	-	10/14	1
5-21793350-A-G	c.1256+8926T>C	-	IntronicSNV	-	10/14	1
5-21794784-C-G	c.1256+7492G>C	-	IntronicSNV	-	10/14	1
5-21795515-C-A	c.1256+6761G>T	-	IntronicSNV	-	10/14	1
5-21796945-G-C	c.1256+5331C>G	-	IntronicSNV	-	10/14	3
5-21799913-C-G	c.1256+2363G>C	-	IntronicSNV	-	10/14	1
5-21799913-C-T	c.1256+2363G>A	-	IntronicSNV	-	10/14	1
5-21800192-T-C	c.1256+2084A>G	-	IntronicSNV	-	10/14	1
5-21802265-C-G	c.1256+11G>C	-	IntronicSNV	-	10/14	1
5-21802268-T-C	c.1256+8A>G	-	IntronicSNV	-	10/14	1
5-21802275-C-T	c.1256+1G>A	-	IntronicSNV	-	10/14	1
5-21802277-T-C	c.1255A>G	p.R419G	Missense	10/15	-	2
5-21802280-C-A	c.1252G>T	p.V418F	Missense	10/15	-	1
5-21802280-C-T	c.1252G>A	p.V418I	Missense	10/15	-	1
5-21802281-A-C	c.1251T>G	p.A417=	Synonymous	10/15	-	1
5-21802281-A-G	c.1251T>C	p.A417=	Synonymous	10/15	-	1
5-21802281-A-T	c.1251T>A	p.A417=	Synonymous	10/15	-	1
5-21802288-C-T	c.1244G>A	p.S415N	Missense	10/15	-	1
5-21802290-G-A	c.1242C>T	p.G414=	Synonymous	10/15	-	1
5-21802290-G-C	c.1242C>G	p.G414=	Synonymous	10/15	-	1
5-21802290-G-T	c.1242C>A	p.G414=	Synonymous	10/15	-	1
5-21802295-C-T	c.1237G>A	p.V413I	Missense	10/15	-	1
5-21802296-A-T	c.1236T>A	p.D412E	Missense	10/15	-	1
5-21802298-C-G	c.1234G>C	p.D412H	Missense	10/15	-	1
5-21802298-C-T	c.1234G>A	p.D412N	Missense	10/15	-	2
5-21802299-C-T	c.1233G>A	p.L411=	Synonymous	10/15	-	1
5-21802301-G-T	c.1231C>A	p.L411M	Missense	10/15	-	1
5-21802303-T-C	c.1229A>G	p.D410G	Missense	10/15	-	2
5-21802310-C-A	c.1222G>T	p.A408S	Missense	10/15	-	1
5-21802319-C-T	c.1213G>A	p.A405T	Missense	10/15	-	4
5-21802320-G-A	c.1212C>T	p.G404=	Synonymous	10/15	-	1
5-21802324-A-G	c.1208T>C	p.I403T	Missense	10/15	-	2
5-21802328-T-C	c.1204A>G	p.I402V	Missense	10/15	-	1
5-21802329-G-A	c.1203C>T	p.T401=	Synonymous	10/15	-	1
5-21802329-G-C	c.1203C>G	p.T401=	Synonymous	10/15	-	1
5-21802329-G-T	c.1203C>A	p.T401=	Synonymous	10/15	-	2
5-21802332-C-A	c.1200G>T	p.G400=	Synonymous	10/15	-	1
5-21802332-C-G	c.1200G>C	p.G400=	Synonymous	10/15	-	1
5-21802332-C-T	c.1200G>A	p.G400=	Synonymous	10/15	-	1
5-21802333-C-T	c.1199G>A	p.G400E	Missense	10/15	-	6
5-21802336-A-T	c.1196T>A	p.V399E	Missense	10/15	-	2
5-21802339-G-A	c.1193C>T	p.P398L	Missense	10/15	-	3
5-21802340-G-A	c.1192C>T	p.P398S	Missense	10/15	-	6
5-21802341-A-C	c.1191T>G	p.T397=	Synonymous	10/15	-	2
5-21802341-A-G	c.1191T>C	p.T397=	Synonymous	10/15	-	2
5-21802341-A-T	c.1191T>A	p.T397=	Synonymous	10/15	-	2
5-21802342-G-C	c.1190C>G	p.T397S	Missense	10/15	-	1
5-21802342-G-T	c.1190C>A	p.T397N	Missense	10/15	-	1
5-21802346-C-T	c.1186G>A	p.D396N	Missense	10/15	-	1
5-21802349-C-T	c.1183G>A	p.E395K	Missense	10/15	-	1
5-21802358-C-G	c.1174G>C	p.E392Q	Missense	10/15	-	1
5-21802360-A-AT	c.1171dup	p.M391Nfs*5	Frameshift	10/15	-	1
5-21802361-T-C	c.1171A>G	p.M391V	Missense	10/15	-	1
5-21802362-G-C	c.1170C>G	p.T390=	Synonymous	10/15	-	1
5-21802366-T-C	c.1166A>G	p.Y389C	Missense	10/15	-	1
5-21802371-C-A	c.1161G>T	p.P387=	Synonymous	10/15	-	1
5-21802371-C-G	c.1161G>C	p.P387=	Synonymous	10/15	-	1
5-21802371-C-T	c.1161G>A	p.P387=	Synonymous	10/15	-	3
5-21802372-G-A	c.1160C>T	p.P387L	Missense	10/15	-	2
5-21802373-G-C	c.1159C>G	p.P387A	Missense	10/15	-	2
5-21802375-T-C	c.1157A>G	p.K386R	Missense	10/15	-	1
5-21802377-G-C	c.1155C>G	p.S385R	Missense	10/15	-	2
5-21802377-G-T	c.1155C>A	p.S385R	Missense	10/15	-	2
5-21802379-T-G	c.1153A>C	p.S385R	Missense	10/15	-	2
5-21802380-G-A	c.1152C>T	p.F384=	Synonymous	10/15	-	2
5-21802382-A-T	c.1150T>A	p.F384I	Missense	10/15	-	1
5-21802384-A-C	c.1148T>G	p.V383G	Missense	10/15	-	1
5-21802386-C-T	c.1146G>A	p.P382=	Synonymous	10/15	-	1
5-21802387-G-T	c.1145C>A	p.P382Q	Missense	10/15	-	2
5-21802394-C-A	c.1138G>T	p.E380*	Nonsense	10/15	-	1
5-21802394-C-T	c.1138G>A	p.E380K	Missense	10/15	-	1
5-21802400-C-A	c.1132G>T	p.V378L	Missense	10/15	-	1
5-21802401-G-A	c.1131C>T	p.D377=	Synonymous	10/15	-	2
5-21802404-C-A	c.1128G>T	p.L376=	Synonymous	10/15	-	4
5-21802404-C-G	c.1128G>C	p.L376=	Synonymous	10/15	-	3
5-21802404-C-T	c.1128G>A	p.L376=	Synonymous	10/15	-	3
5-21802406-G-A	c.1126C>T	p.L376=	Synonymous	10/15	-	3
5-21802408-A-T	c.1124T>A	p.V375E	Missense	10/15	-	1
5-21802409-C-A	c.1123G>T	p.V375L	Missense	10/15	-	1
5-21802409-C-T	c.1123G>A	p.V375M	Missense	10/15	-	1
5-21802410-G-A	c.1122C>T	p.S374=	Synonymous	10/15	-	2
5-21802410-G-C	c.1122C>G	p.S374R	Missense	10/15	-	4
5-21802410-G-T	c.1122C>A	p.S374R	Missense	10/15	-	3
5-21802412-T-G	c.1120A>C	p.S374R	Missense	10/15	-	3
5-21802411-C-A	c.1121G>T	p.S374I	Missense	10/15	-	1
5-21802412-T-C	c.1120A>G	p.S374G	Missense	10/15	-	3
5-21802416-C-A	c.1116G>T	p.K372N	Missense	10/15	-	1
5-21802416-C-G	c.1116G>C	p.K372N	Missense	10/15	-	1
5-21802419-C-A	c.1113G>T	p.V371=	Synonymous	10/15	-	1
5-21802419-C-G	c.1113G>C	p.V371=	Synonymous	10/15	-	1
5-21802419-C-T	c.1113G>A	p.V371=	Synonymous	10/15	-	1
5-21802423-G-A	c.1109C>T	p.T370M	Missense	10/15	-	7
5-21802424-T-A	c.1108A>T	p.T370S	Missense	10/15	-	1
5-21802426-G-T	c.1106C>A	p.A369D	Missense	10/15	-	1
5-21802429-G-T	c.1103C>A	p.T368K	Missense	10/15	-	1
5-21802433-C-T	c.1099G>A	p.D367N	Missense	10/15	-	1
5-21802437-G-C	c.1095C>G	p.F365L	Missense	10/15	-	1
5-21802440-AG-TT	c.1091_1092delinsAA	p.P364Q	Missense	10/15	-	1
5-21802441-G-A	c.1091C>T	p.P364L	Missense	10/15	-	2
5-21802441-G-T	c.1091C>A	p.P364H	Missense	10/15	-	1
5-21802442-G-T	c.1090C>A	p.P364T	Missense	10/15	-	1
5-21802443-G-A	c.1089C>T	p.G363=	Synonymous	10/15	-	1
5-21802443-G-C	c.1089C>G	p.G363=	Synonymous	10/15	-	1
5-21802443-G-T	c.1089C>A	p.G363=	Synonymous	10/15	-	1
5-21802444-C-A	c.1088G>T	p.G363V	Missense	10/15	-	1
5-21802444-C-G	c.1088G>C	p.G363A	Missense	10/15	-	1
5-21802445-C-A	c.1087G>T	p.G363C	Missense	10/15	-	1
5-21802447-G-A	c.1085C>T	p.A362V	Missense	10/15	-	3
5-21802450-G-A	c.1082C>T	p.S361L	Missense	10/15	-	1
5-21802454-G-A	c.1078C>T	p.H360Y	Missense	10/15	-	1
5-21802459-C-T	c.1073G>A	p.R358Q	Missense	10/15	-	2
5-21802460-G-C	c.1072C>G	p.R358G	Missense	10/15	-	1
5-21802462-TG-AT	c.1069_1070delinsAT	p.H357I	Missense	10/15	-	1
5-21802463-G-T	c.1069C>A	p.H357N	Missense	10/15	-	4
5-21802469-G-A	c.1063C>T	p.L355F	Missense	10/15	-	2
5-21802475-G-A	c.1057C>T	p.L353F	Missense	10/15	-	3
5-21802477-T-C	c.1055A>G	p.N352S	Missense	10/15	-	1
5-21802480-G-C	c.1052C>G	p.S351C	Missense	10/15	-	1
5-21802484-C-G	c.1048G>C	p.A350P	Missense	10/15	-	1
5-21802484-C-T	c.1048G>A	p.A350T	Missense	10/15	-	1
5-21802485-C-A	c.1047G>T	p.E349D	Missense	10/15	-	6
5-21802485-C-G	c.1047G>C	p.E349D	Missense	10/15	-	2
5-21802487-C-T	c.1045G>A	p.E349K	Missense	10/15	-	2
5-21802490-C-T	c.1042G>A	p.V348I	Missense	10/15	-	1
5-21802491-T-A	c.1041A>T	p.K347N	Missense	10/15	-	1
5-21802491-T-G	c.1041A>C	p.K347N	Missense	10/15	-	2
5-21802493-T-A	c.1039A>T	p.K347*	Nonsense	10/15	-	1
5-21802494-G-A	c.1038C>T	p.F346=	Synonymous	10/15	-	1
5-21802494-G-T	c.1038C>A	p.F346L	Missense	10/15	-	1
5-21802501-T-C	c.1031A>G	p.Y344C	Missense	10/15	-	1
5-21802506-C-A	c.1026G>T	p.K342N	Missense	10/15	-	1
5-21802506-C-G	c.1026G>C	p.K342N	Missense	10/15	-	1
5-21802507-T-G	c.1025A>C	p.K342T	Missense	10/15	-	1
5-21802509-C-A	c.1023G>T	p.K341N	Missense	10/15	-	5
5-21802509-C-G	c.1023G>C	p.K341N	Missense	10/15	-	7
5-21802514-T-G	c.1018A>C	p.T340P	Missense	10/15	-	1
5-21802523-C-A	c.1009G>T	p.D337Y	Missense	10/15	-	2
5-21802523-C-T	c.1009G>A	p.D337N	Missense	10/15	-	1
5-21802532-G-A	c.1003-3C>T	-	IntronicSNV	-	9/14	1
5-21802662-C-A	c.1003-133G>T	-	IntronicSNV	-	9/14	3
5-21802662-C-T	c.1003-133G>A	-	IntronicSNV	-	9/14	3
5-21802702-C-T	c.1003-173G>A	-	IntronicSNV	-	9/14	1
5-21802719-G-T	c.1003-190C>A	-	IntronicSNV	-	9/14	1
5-21808995-A-T	c.1003-6466T>A	-	IntronicSNV	-	9/14	1
5-21810997-T-C	c.1002+6057A>G	-	IntronicSNV	-	9/14	1
5-21816823-A-G	c.1002+231T>C	-	IntronicSNV	-	9/14	1
5-21816901-C-T	c.1002+153G>A	-	IntronicSNV	-	9/14	1
5-21817053-C-T	c.1002+1G>A	-	IntronicSNV	-	9/14	1
5-21817054-C-T	c.1002G>A	p.K334=	Synonymous	9/15	-	1
5-21817055-T-C	c.1001A>G	p.K334R	Missense	9/15	-	1
5-21817056-T-C	c.1000A>G	p.K334E	Missense	9/15	-	2
5-21817058-T-A	c.998A>T	p.K333I	Missense	9/15	-	1
5-21817060-C-A	c.996G>T	p.L332F	Missense	9/15	-	2
5-21817060-C-G	c.996G>C	p.L332F	Missense	9/15	-	3
5-21817060-C-T	c.996G>A	p.L332=	Synonymous	9/15	-	1
5-21817062-A-G	c.994T>C	p.L332=	Synonymous	9/15	-	1
5-21817065-T-A	c.991A>T	p.K331*	Nonsense	9/15	-	3
5-21817066-G-T	c.990C>A	p.I330=	Synonymous	9/15	-	1
5-21817067-A-C	c.989T>G	p.I330S	Missense	9/15	-	1
5-21817067-A-T	c.989T>A	p.I330N	Missense	9/15	-	1
5-21817069-G-A	c.987C>T	p.V329=	Synonymous	9/15	-	1
5-21817069-G-C	c.987C>G	p.V329=	Synonymous	9/15	-	1
5-21817069-G-T	c.987C>A	p.V329=	Synonymous	9/15	-	1
5-21817070-A-G	c.986T>C	p.V329A	Missense	9/15	-	1
5-21817074-C-G	c.982G>C	p.G328R	Missense	9/15	-	3
5-21817074-C-T	c.982G>A	p.G328R	Missense	9/15	-	8
5-21817079-T-G	c.977A>C	p.Q326P	Missense	9/15	-	1
5-21817080-G-A	c.976C>T	p.Q326*	Nonsense	9/15	-	1
5-21817082-G-A	c.974C>T	p.T325I	Missense	9/15	-	3
5-21817082-G-T	c.974C>A	p.T325K	Missense	9/15	-	1
5-21817083-T-G	c.973A>C	p.T325P	Missense	9/15	-	1
5-21817089-C-G	c.967G>C	p.E323Q	Missense	9/15	-	1
5-21817092-C-T	c.964G>A	p.D322N	Missense	9/15	-	1
5-21817095-T-C	c.961A>G	p.T321A	Missense	9/15	-	1
5-21817098-C-T	c.958G>A	p.V320I	Missense	9/15	-	1
5-21817099-G-A	c.957C>T	p.I319=	Synonymous	9/15	-	5
5-21817099-G-C	c.957C>G	p.I319M	Missense	9/15	-	1
5-21817099-G-T	c.957C>A	p.I319=	Synonymous	9/15	-	3
5-21817101-T-G	c.955A>C	p.I319L	Missense	9/15	-	2
5-21817104-C-G	c.952G>C	p.D318H	Missense	9/15	-	1
5-21817109-A-T	c.947T>A	p.L316*	Nonsense	9/15	-	4
5-21817115-C-G	c.941G>C	p.G314A	Missense	9/15	-	1
5-21817115-C-T	c.941G>A	p.G314E	Missense	9/15	-	8
5-21817116-C-G	c.940G>C	p.G314R	Missense	9/15	-	1
5-21817116-C-T	c.940G>A	p.G314R	Missense	9/15	-	1
5-21817118-C-A	c.938G>T	p.G313V	Missense	9/15	-	1
5-21817118-C-T	c.938G>A	p.G313E	Missense	9/15	-	1
5-21817119-C-A	c.937G>T	p.G313W	Missense	9/15	-	3
5-21817120-A-G	c.936T>C	p.D312=	Synonymous	9/15	-	2
5-21817122-C-A	c.934G>T	p.D312Y	Missense	9/15	-	1
5-21817122-C-T	c.934G>A	p.D312N	Missense	9/15	-	2
5-21817127-G-A	c.929C>T	p.P310L	Missense	9/15	-	2
5-21817131-C-A	c.925G>T	p.V309F	Missense	9/15	-	1
5-21817140-A-G	c.916T>C	p.Y306H	Missense	9/15	-	3
5-21817144-A-G	c.912T>C	p.I304=	Synonymous	9/15	-	1
5-21817146-T-G	c.910A>C	p.I304L	Missense	9/15	-	1
5-21817149-C-A	c.907G>T	p.E303*	Nonsense	9/15	-	3
5-21817149-C-T	c.907G>A	p.E303K	Missense	9/15	-	2
5-21817150-T-A	c.906A>T	p.A302=	Synonymous	9/15	-	1
5-21817151-G-A	c.905C>T	p.A302V	Missense	9/15	-	1
5-21817152-C-CA	c.903dup	p.A302Cfs*4	Frameshift	9/15	-	1
5-21817155-T-A	c.901A>T	p.N301Y	Missense	9/15	-	1
5-21817158-G-T	c.898C>A	p.Q300K	Missense	9/15	-	4
5-21817161-C-A	c.895G>T	p.G299*	Nonsense	9/15	-	1
5-21817161-C-G	c.895G>C	p.G299R	Missense	9/15	-	2
5-21817161-C-T	c.895G>A	p.G299R	Missense	9/15	-	2
5-21817163-A-C	c.893T>G	p.F298C	Missense	9/15	-	4
5-21817163-A-G	c.893T>C	p.F298S	Missense	9/15	-	1
5-21817166-T-A	c.890A>T	p.D297V	Missense	9/15	-	1
5-21817168-A-G	c.888T>C	p.P296=	Synonymous	9/15	-	1
5-21817178-G-A	c.878C>T	p.A293V	Missense	9/15	-	3
5-21817185-T-C	c.871A>G	p.I291V	Missense	9/15	-	1
5-21817187-C-A	c.869G>T	p.R290I	Missense	9/15	-	3
5-21817187-C-T	c.869G>A	p.R290K	Missense	9/15	-	5
5-21817188-T-C	c.868A>G	p.R290G	Missense	9/15	-	1
5-21817190-C-A	c.866G>T	p.G289V	Missense	9/15	-	1
5-21817190-C-T	c.866G>A	p.G289E	Missense	9/15	-	3
5-21817189-TC-T	c.866del	p.G289Efs*3	Frameshift	9/15	-	2
5-21817191-C-A	c.865G>T	p.G289*	Nonsense	9/15	-	1
5-21817191-C-T	c.865G>A	p.G289R	Missense	9/15	-	1
5-21817192-A-G	c.864T>C	p.I288=	Synonymous	9/15	-	1
5-21817199-GA-CT	c.856_857delinsAG	p.S286R	Missense	9/15	-	1
5-21817203-C-A	c.853G>T	p.G285C	Missense	9/15	-	1
5-21817206-T-C	c.850A>G	p.I284V	Missense	9/15	-	10
5-21817208-G-A	c.848C>T	p.P283L	Missense	9/15	-	5
5-21817210-G-T	c.846C>A	p.S282=	Synonymous	9/15	-	1
5-21817211-G-A	c.845C>T	p.S282F	Missense	9/15	-	1
5-21817211-G-T	c.845C>A	p.S282Y	Missense	9/15	-	1
5-21817215-A-T	c.841T>A	p.S281T	Missense	9/15	-	1
5-21817218-C-G	c.838G>C	p.E280Q	Missense	9/15	-	1
5-21817219-A-C	c.837T>G	p.P279=	Synonymous	9/15	-	2
5-21817219-A-G	c.837T>C	p.P279=	Synonymous	9/15	-	2
5-21817219-A-T	c.837T>A	p.P279=	Synonymous	9/15	-	2
5-21817221-G-A	c.835C>T	p.P279S	Missense	9/15	-	3
5-21817224-C-A	c.832G>T	p.V278F	Missense	9/15	-	5
5-21817225-T-A	c.831A>T	p.K277N	Missense	9/15	-	3
5-21817225-T-G	c.831A>C	p.K277N	Missense	9/15	-	1
5-21817228-C-A	c.828G>T	p.L276F	Missense	9/15	-	1
5-21817228-C-G	c.828G>C	p.L276F	Missense	9/15	-	1
5-21817231-G-C	c.825C>G	p.H275Q	Missense	9/15	-	1
5-21817231-G-T	c.825C>A	p.H275Q	Missense	9/15	-	1
5-21817233-G-A	c.823C>T	p.H275Y	Missense	9/15	-	1
5-21817240-G-C	c.816C>G	p.S272R	Missense	9/15	-	2
5-21817240-G-T	c.816C>A	p.S272R	Missense	9/15	-	2
5-21842270-T-G	c.814A>C	p.S272R	Missense	8/15	-	2
5-21817247-A-G	c.815-6T>C	-	IntronicSNV	-	8/14	1
5-21821338-A-G	c.815-4097T>C	-	IntronicSNV	-	8/14	1
5-21821338-A-T	c.815-4097T>A	-	IntronicSNV	-	8/14	1
5-21839349-T-C	c.814+2921A>G	-	IntronicSNV	-	8/14	1
5-21842114-TA-T	c.814+155del	-	IntronicDeletion	-	8/14	1
5-21842234-C-T	c.814+36G>A	-	IntronicSNV	-	8/14	1
5-21842235-G-A	c.814+35C>T	-	IntronicSNV	-	8/14	1
5-21842269-C-T	c.814+1G>A	-	IntronicSNV	-	8/14	1
5-21842272-T-A	c.812A>T	p.K271I	Missense	8/15	-	1
5-21842272-T-G	c.812A>C	p.K271T	Missense	8/15	-	1
5-21842273-T-A	c.811A>T	p.K271*	Nonsense	8/15	-	1
5-21842274-G-A	c.810C>T	p.P270=	Synonymous	8/15	-	4
5-21842274-G-C	c.810C>G	p.P270=	Synonymous	8/15	-	4
5-21842274-G-T	c.810C>A	p.P270=	Synonymous	8/15	-	3
5-21842275-G-A	c.809C>T	p.P270L	Missense	8/15	-	1
5-21842275-G-T	c.809C>A	p.P270H	Missense	8/15	-	1
5-21842273-TG-T	c.810del	p.S272Afs*5	Frameshift	8/15	-	1
5-21842280-TCG-CCA	c.802_804delinsTGG	p.R268W	Missense	8/15	-	1
5-21842281-C-A	c.803G>T	p.R268L	Missense	8/15	-	1
5-21842281-C-T	c.803G>A	p.R268Q	Missense	8/15	-	6
5-21842282-G-A	c.802C>T	p.R268*	Nonsense	8/15	-	8
5-21842282-G-C	c.802C>G	p.R268G	Missense	8/15	-	1
5-21842282-G-T	c.802C>A	p.R268=	Synonymous	8/15	-	1
5-21842285-G-A	c.799C>T	p.P267S	Missense	8/15	-	1
5-21842288-G-T	c.796C>A	p.P266T	Missense	8/15	-	3
5-21842291-T-A	c.793A>T	p.N265Y	Missense	8/15	-	1
5-21842291-T-G	c.793A>C	p.N265H	Missense	8/15	-	1
5-21842292-G-C	c.792C>G	p.D264E	Missense	8/15	-	1
5-21842292-G-T	c.792C>A	p.D264E	Missense	8/15	-	1
5-21842294-C-A	c.790G>T	p.D264Y	Missense	8/15	-	4
5-21842295-A-G	c.789T>C	p.N263=	Synonymous	8/15	-	2
5-21842296-T-G	c.788A>C	p.N263T	Missense	8/15	-	2
5-21842302-T-C	c.782A>G	p.D261G	Missense	8/15	-	1
5-21842303-C-A	c.781G>T	p.D261Y	Missense	8/15	-	3
5-21842303-C-T	c.781G>A	p.D261N	Missense	8/15	-	1
5-21842304-G-A	c.780C>T	p.T260=	Synonymous	8/15	-	3
5-21842304-G-C	c.780C>G	p.T260=	Synonymous	8/15	-	2
5-21842304-G-T	c.780C>A	p.T260=	Synonymous	8/15	-	1
5-21842306-T-G	c.778A>C	p.T260P	Missense	8/15	-	1
5-21842313-G-A	c.771C>T	p.I257=	Synonymous	8/15	-	1
5-21842313-G-T	c.771C>A	p.I257=	Synonymous	8/15	-	1
5-21842316-G-A	c.768C>T	p.N256=	Synonymous	8/15	-	1
5-21842319-G-A	c.765C>T	p.V255=	Synonymous	8/15	-	1
5-21842319-G-C	c.765C>G	p.V255=	Synonymous	8/15	-	1
5-21842319-G-T	c.765C>A	p.V255=	Synonymous	8/15	-	1
5-21842320-A-G	c.764T>C	p.V255A	Missense	8/15	-	2
5-21842321-C-A	c.763G>T	p.V255F	Missense	8/15	-	3
5-21842329-G-A	c.755C>T	p.T252I	Missense	8/15	-	1
5-21842332-C-A	c.752G>T	p.G251V	Missense	8/15	-	1
5-21842332-C-T	c.752G>A	p.G251E	Missense	8/15	-	1
5-21842333-C-G	c.751G>C	p.G251R	Missense	8/15	-	2
5-21842333-C-T	c.751G>A	p.G251R	Missense	8/15	-	3
5-21842334-G-A	c.750C>T	p.A250=	Synonymous	8/15	-	2
5-21842334-G-C	c.750C>G	p.A250=	Synonymous	8/15	-	1
5-21842334-G-T	c.750C>A	p.A250=	Synonymous	8/15	-	1
5-21842336-C-T	c.748G>A	p.A250T	Missense	8/15	-	1
5-21842341-C-T	c.743G>A	p.G248E	Missense	8/15	-	7
5-21842342-C-T	c.742G>A	p.G248R	Missense	8/15	-	2
5-21842347-A-G	c.737T>C	p.L246P	Missense	8/15	-	1
5-21842351-G-A	c.733C>T	p.Q245*	Nonsense	8/15	-	3
5-21842351-G-C	c.733C>G	p.Q245E	Missense	8/15	-	1
5-21842353-C-A	c.731G>T	p.G244V	Missense	8/15	-	1
5-21842354-C-G	c.730G>C	p.G244R	Missense	8/15	-	1
5-21842354-C-T	c.730G>A	p.G244R	Missense	8/15	-	1
5-21842356-C-T	c.728G>A	p.G243E	Missense	8/15	-	6
5-21842358-C-A	c.726G>T	p.M242I	Missense	8/15	-	1
5-21842359-A-G	c.725T>C	p.M242T	Missense	8/15	-	1
5-21842363-C-T	c.721G>A	p.D241N	Missense	8/15	-	9
5-21842364-C-A	c.720G>T	p.K240N	Missense	8/15	-	2
5-21842364-C-G	c.720G>C	p.K240N	Missense	8/15	-	2
5-21842364-C-T	c.720G>A	p.K240=	Synonymous	8/15	-	3
5-21842369-C-A	c.715G>T	p.A239S	Missense	8/15	-	1
5-21842370-T-A	c.714A>T	p.Q238H	Missense	8/15	-	1
5-21842370-T-G	c.714A>C	p.Q238H	Missense	8/15	-	1
5-21842372-G-T	c.712C>A	p.Q238K	Missense	8/15	-	1
5-21842373-G-A	c.711C>T	p.I237=	Synonymous	8/15	-	2
5-21842381-C-A	c.703G>T	p.V235L	Missense	8/15	-	2
5-21842381-C-G	c.703G>C	p.V235L	Missense	8/15	-	1
5-21842384-G-A	c.700C>T	p.Q234*	Nonsense	8/15	-	4
5-21842390-G-T	c.694C>A	p.Q232K	Missense	8/15	-	1
5-21842391-T-C	c.693A>G	p.E231=	Synonymous	8/15	-	2
5-21842393-C-A	c.691G>T	p.E231*	Nonsense	8/15	-	3
5-21842394-T-C	c.690A>G	p.K230=	Synonymous	8/15	-	1
5-21842401-T-A	c.683A>T	p.E228V	Missense	8/15	-	1
5-21842402-C-A	c.682G>T	p.E228*	Nonsense	8/15	-	3
5-21842402-C-T	c.682G>A	p.E228K	Missense	8/15	-	1
5-21842404-C-T	c.680G>A	p.R227K	Missense	8/15	-	8
5-21842405-T-G	c.679A>C	p.R227=	Synonymous	8/15	-	1
5-21842408-C-T	c.676G>A	p.D226N	Missense	8/15	-	2
5-21842409-C-T	c.675G>A	p.M225I	Missense	8/15	-	1
5-21842416-G-T	c.668C>A	p.P223Q	Missense	8/15	-	1
5-21842417-G-A	c.667C>T	p.P223S	Missense	8/15	-	2
5-21842417-G-C	c.667C>G	p.P223A	Missense	8/15	-	1
5-21842417-G-T	c.667C>A	p.P223T	Missense	8/15	-	1
5-21842422-G-T	c.662C>A	p.A221D	Missense	8/15	-	1
5-21842423-GCT-G	c.660_661del	p.A221Ffs*43	Frameshift	8/15	-	1
5-21842424-T-A	c.660A>T	p.T220=	Synonymous	8/15	-	1
5-21842424-T-C	c.660A>G	p.T220=	Synonymous	8/15	-	1
5-21842424-T-G	c.660A>C	p.T220=	Synonymous	8/15	-	1
5-21842425-G-A	c.659C>T	p.T220I	Missense	8/15	-	2
5-21842426-T-C	c.658A>G	p.T220A	Missense	8/15	-	1
5-21842428-C-T	c.656G>A	p.R219K	Missense	8/15	-	2
5-21842432-T-C	c.652A>G	p.I218V	Missense	8/15	-	1
5-21842435-C-T	c.649G>A	p.V217I	Missense	8/15	-	1
5-21842436-A-C	c.648T>G	p.G216=	Synonymous	8/15	-	2
5-21842436-A-G	c.648T>C	p.G216=	Synonymous	8/15	-	4
5-21842436-A-T	c.648T>A	p.G216=	Synonymous	8/15	-	2
5-21847531-T-C	c.647-5094A>G	-	IntronicSNV	-	7/14	1
5-21847531-T-G	c.647-5094A>C	-	IntronicSNV	-	7/14	1
5-21848372-G-T	c.647-5935C>A	-	IntronicSNV	-	7/14	1
5-21849763-G-T	c.646+5017C>A	-	IntronicSNV	-	7/14	1
5-21852544-A-C	c.646+2236T>G	-	IntronicSNV	-	7/14	1
5-21854650-C-G	c.646+130G>C	-	IntronicSNV	-	7/14	1
5-21854678-T-C	c.646+102A>G	-	IntronicSNV	-	7/14	1
5-21854682-T-A	c.646+98A>T	-	IntronicSNV	-	7/14	1
5-21854744-G-A	c.646+36C>T	-	IntronicSNV	-	7/14	1
5-21854779-C-T	c.646+1G>A	-	IntronicSNV	-	7/14	2
5-21854780-C-A	c.646G>T	p.G216C	Missense	7/15	-	2
5-21854780-C-T	c.646G>A	p.G216S	Missense	7/15	-	8
5-21854782-G-C	c.644C>G	p.T215R	Missense	7/15	-	2
5-21854783-T-A	c.643A>T	p.T215S	Missense	7/15	-	2
5-21854784-C-A	c.642G>T	p.K214N	Missense	7/15	-	1
5-21854784-C-G	c.642G>C	p.K214N	Missense	7/15	-	1
5-21854784-C-T	c.642G>A	p.K214=	Synonymous	7/15	-	1
5-21854786-T-A	c.640A>T	p.K214*	Nonsense	7/15	-	1
5-21854786-T-TA	c.639_640insT	p.K214*	Nonsense	7/15	-	1
5-21854787-G-A	c.639C>T	p.P213=	Synonymous	7/15	-	5
5-21854787-G-C	c.639C>G	p.P213=	Synonymous	7/15	-	5
5-21854787-G-T	c.639C>A	p.P213=	Synonymous	7/15	-	3
5-21854788-G-A	c.638C>T	p.P213L	Missense	7/15	-	2
5-21854788-GG-AA	c.637_638delinsTT	p.P213F	Missense	7/15	-	3
5-21854788-G-T	c.638C>A	p.P213H	Missense	7/15	-	1
5-21854789-G-A	c.637C>T	p.P213S	Missense	7/15	-	4
5-21854791-T-A	c.635A>T	p.D212V	Missense	7/15	-	2
5-21854792-C-T	c.634G>A	p.D212N	Missense	7/15	-	1
5-21854796-A-C	c.630T>G	p.S210=	Synonymous	7/15	-	1
5-21854796-A-G	c.630T>C	p.S210=	Synonymous	7/15	-	1
5-21854796-A-T	c.630T>A	p.S210=	Synonymous	7/15	-	1
5-21854797-G-A	c.629C>T	p.S210F	Missense	7/15	-	1
5-21854797-GA-TT	c.628_629delinsAA	p.S210N	Missense	7/15	-	1
5-21854798-A-G	c.628T>C	p.S210P	Missense	7/15	-	1
5-21854799-G-T	c.627C>A	p.F209L	Missense	7/15	-	2
5-21854799-G-C	c.627C>G	p.F209L	Missense	7/15	-	1
5-21854801-A-G	c.625T>C	p.F209L	Missense	7/15	-	1
5-21854802-A-C	c.624T>G	p.Y208*	Nonsense	7/15	-	1
5-21854802-A-T	c.624T>A	p.Y208*	Nonsense	7/15	-	1
5-21854805-A-C	c.621T>G	p.P207=	Synonymous	7/15	-	1
5-21854805-A-G	c.621T>C	p.P207=	Synonymous	7/15	-	1
5-21854805-A-T	c.621T>A	p.P207=	Synonymous	7/15	-	2
5-21854807-G-A	c.619C>T	p.P207S	Missense	7/15	-	3
5-21854808-T-G	c.618A>C	p.Q206H	Missense	7/15	-	1
5-21854810-G-T	c.616C>A	p.Q206K	Missense	7/15	-	4
5-21854813-C-A	c.613G>T	p.G205*	Nonsense	7/15	-	1
5-21854813-C-G	c.613G>C	p.G205R	Missense	7/15	-	1
5-21854813-C-T	c.613G>A	p.G205R	Missense	7/15	-	6
5-21854814-C-A	c.612G>T	p.Q204H	Missense	7/15	-	4
5-21854814-C-G	c.612G>C	p.Q204H	Missense	7/15	-	4
5-21854815-T-A	c.611A>T	p.Q204L	Missense	7/15	-	1
5-21854816-G-A	c.610C>T	p.Q204*	Nonsense	7/15	-	3
5-21854816-G-T	c.610C>A	p.Q204K	Missense	7/15	-	1
5-21854817-A-G	c.609T>C	p.L203=	Synonymous	7/15	-	1
5-21854818-A-C	c.608T>G	p.L203R	Missense	7/15	-	1
5-21854819-G-A	c.607C>T	p.L203F	Missense	7/15	-	6
5-21854819-G-T	c.607C>A	p.L203I	Missense	7/15	-	1
5-21854821-A-T	c.605T>A	p.I202N	Missense	7/15	-	1
5-21854823-G-C	c.603C>G	p.S201R	Missense	7/15	-	1
5-21854826-G-A	c.600C>T	p.Y200=	Synonymous	7/15	-	1
5-21854826-G-T	c.600C>A	p.Y200*	Nonsense	7/15	-	1
5-21854827-T-C	c.599A>G	p.Y200C	Missense	7/15	-	1
5-21854829-A-C	c.597T>G	p.V199=	Synonymous	7/15	-	1
5-21854830-A-G	c.596T>C	p.V199A	Missense	7/15	-	1
5-21854831-C-T	c.595G>A	p.V199I	Missense	7/15	-	8
5-21854832-G-A	c.594C>T	p.V198=	Synonymous	7/15	-	2
5-21854832-G-C	c.594C>G	p.V198=	Synonymous	7/15	-	1
5-21854832-G-T	c.594C>A	p.V198=	Synonymous	7/15	-	1
5-21854833-A-G	c.593T>C	p.V198A	Missense	7/15	-	1
5-21854833-A-T	c.593T>A	p.V198D	Missense	7/15	-	1
5-21854834-C-T	c.592G>A	p.V198I	Missense	7/15	-	2
5-21854839-G-A	c.587C>T	p.A196V	Missense	7/15	-	3
5-21854841-A-G	c.585T>C	p.S195=	Synonymous	7/15	-	1
5-21854842-C-A	c.584G>T	p.S195I	Missense	7/15	-	1
5-21854849-C-T	c.577G>A	p.G193R	Missense	7/15	-	5
5-21854854-G-T	c.572C>A	p.T191N	Missense	7/15	-	1
5-21854855-T-TC	c.570dup	p.T191Dfs*22	Frameshift	7/15	-	2
5-21854856-C-A	c.570G>T	p.P190=	Synonymous	7/15	-	2
5-21854856-C-G	c.570G>C	p.P190=	Synonymous	7/15	-	2
5-21854856-C-T	c.570G>A	p.P190=	Synonymous	7/15	-	2
5-21854857-G-A	c.569C>T	p.P190L	Missense	7/15	-	6
5-21854858-G-T	c.568C>A	p.P190T	Missense	7/15	-	3
5-21854856-C-CG	c.569dup	p.T191Dfs*22	Frameshift	7/15	-	1
5-21854860-T-C	c.566A>G	p.D189G	Missense	7/15	-	1
5-21854861-C-T	c.565G>A	p.D189N	Missense	7/15	-	1
5-21854864-C-T	c.562G>A	p.D188N	Missense	7/15	-	2
5-21854867-C-G	c.559G>C	p.A187P	Missense	7/15	-	1
5-21854868-A-T	c.558T>A	p.D186E	Missense	7/15	-	1
5-21854870-C-G	c.556G>C	p.D186H	Missense	7/15	-	1
5-21854870-C-T	c.556G>A	p.D186N	Missense	7/15	-	6
5-21854872-G-C	c.554C>G	p.T185R	Missense	7/15	-	1
5-21854875-G-C	c.551C>G	p.A184G	Missense	7/15	-	1
5-21854882-C-A	c.544G>T	p.V182F	Missense	7/15	-	1
5-21854882-C-T	c.544G>A	p.V182I	Missense	7/15	-	2
5-21854885-G-A	c.541C>T	p.Q181*	Nonsense	7/15	-	6
5-21854886-G-A	c.540C>T	p.L180=	Synonymous	7/15	-	3
5-21854886-G-C	c.540C>G	p.L180=	Synonymous	7/15	-	2
5-21854886-G-T	c.540C>A	p.L180=	Synonymous	7/15	-	3
5-21854892-A-C	c.534T>G	p.Y178*	Nonsense	7/15	-	1
5-21854896-G-T	c.530C>A	p.A177E	Missense	7/15	-	1
5-21854899-C-T	c.527G>A	p.G176D	Missense	7/15	-	4
5-21872904-T-G	c.527-18005A>C	-	IntronicSNV	-	6/14	1
5-21880725-C-T	c.527-25826G>A	-	IntronicSNV	-	6/14	1
5-21881016-G-A	c.527-26117C>T	-	IntronicSNV	-	6/14	1
5-21881514-G-A	c.527-26615C>T	-	IntronicSNV	-	6/14	1
5-21884101-A-G	c.527-29202T>C	-	IntronicSNV	-	6/14	2
5-21884789-C-T	c.527-29890G>A	-	IntronicSNV	-	6/14	1
5-21884927-T-C	c.527-30028A>G	-	IntronicSNV	-	6/14	1
5-21888020-T-C	c.527-33121A>G	-	IntronicSNV	-	6/14	1
5-21892095-T-G	c.527-37196A>C	-	IntronicSNV	-	6/14	1
5-21918277-T-C	c.526+56923A>G	-	IntronicSNV	-	6/14	2
5-21918370-C-A	c.526+56830G>T	-	IntronicSNV	-	6/14	1
5-21918907-T-A	c.526+56293A>T	-	IntronicSNV	-	6/14	1
5-21919526-A-G	c.526+55674T>C	-	IntronicSNV	-	6/14	1
5-21920038-G-A	c.526+55162C>T	-	IntronicSNV	-	6/14	1
5-21920797-A-AATAATAATAATAATAATAATAATC	c.526+54402_526+54403insGATTATTATTATTATTATTATTAT	-	IntronicInsertion	-	6/14	1
5-21920797-A-AATAATAATAATAATAATAATC	c.526+54402_526+54403insGATTATTATTATTATTATTAT	-	IntronicInsertion	-	6/14	1
5-21920797-A-AATAATAATAATAATAATC	c.526+54402_526+54403insGATTATTATTATTATTAT	-	IntronicInsertion	-	6/14	1
5-21920797-A-AATAATAATAATAATC	c.526+54402_526+54403insGATTATTATTATTAT	-	IntronicInsertion	-	6/14	1
5-21920797-A-AATAATAATAATC	c.526+54402_526+54403insGATTATTATTAT	-	IntronicInsertion	-	6/14	1
5-21920803-C-A	c.526+54397G>T	-	IntronicSNV	-	6/14	1
5-21921937-C-G	c.526+53263G>C	-	IntronicSNV	-	6/14	1
5-21922491-C-A	c.526+52709G>T	-	IntronicSNV	-	6/14	1
5-21923730-G-T	c.526+51470C>A	-	IntronicSNV	-	6/14	1
5-21924445-CA-C	c.526+50754del	-	IntronicDeletion	-	6/14	1
5-21926147-C-T	c.526+49053G>A	-	IntronicSNV	-	6/14	1
5-21926659-C-A	c.526+48541G>T	-	IntronicSNV	-	6/14	1
5-21928179-TA-T	c.526+47020del	-	IntronicDeletion	-	6/14	1
5-21930106-C-A	c.526+45094G>T	-	IntronicSNV	-	6/14	1
5-21930106-C-T	c.526+45094G>A	-	IntronicSNV	-	6/14	1
5-21930308-G-A	c.526+44892C>T	-	IntronicSNV	-	6/14	1
5-21930701-A-G	c.526+44499T>C	-	IntronicSNV	-	6/14	1
5-21934344-G-C	c.526+40856C>G	-	IntronicSNV	-	6/14	1
5-21938815-T-A	c.526+36385A>T	-	IntronicSNV	-	6/14	1
5-21940672-C-T	c.526+34528G>A	-	IntronicSNV	-	6/14	1
5-21940967-T-A	c.526+34233A>T	-	IntronicSNV	-	6/14	1
5-21945512-G-A	c.526+29688C>T	-	IntronicSNV	-	6/14	1
5-21945512-G-T	c.526+29688C>A	-	IntronicSNV	-	6/14	1
5-21951340-A-T	c.526+23860T>A	-	IntronicSNV	-	6/14	1
5-21953656-C-A	c.526+21544G>T	-	IntronicSNV	-	6/14	1
5-21953815-C-T	c.526+21385G>A	-	IntronicSNV	-	6/14	1
5-21954740-G-A	c.526+20460C>T	-	IntronicSNV	-	6/14	1
5-21954744-A-T	c.526+20456T>A	-	IntronicSNV	-	6/14	1
5-21956993-A-C	c.526+18207T>G	-	IntronicSNV	-	6/14	1
5-21957639-T-C	c.526+17561A>G	-	IntronicSNV	-	6/14	1
5-21967082-C-T	c.526+8118G>A	-	IntronicSNV	-	6/14	1
5-21967373-A-T	c.526+7827T>A	-	IntronicSNV	-	6/14	1
5-21971404-A-C	c.526+3796T>G	-	IntronicSNV	-	6/14	1
5-21975174-C-CA	c.526+25dup	-	IntronicInsertion	-	6/14	1
5-21975190-G-A	c.526+10C>T	-	IntronicSNV	-	6/14	1
5-21975200-C-T	c.526G>A	p.G176S	Missense	6/15	-	6
5-21975203-C-A	c.523G>T	p.V175L	Missense	6/15	-	3
5-21975205-G-A	c.521C>T	p.P174L	Missense	6/15	-	1
5-21975205-G-T	c.521C>A	p.P174H	Missense	6/15	-	1
5-21975206-G-A	c.520C>T	p.P174S	Missense	6/15	-	2
5-21975206-G-C	c.520C>G	p.P174A	Missense	6/15	-	3
5-21975206-G-T	c.520C>A	p.P174T	Missense	6/15	-	1
5-21975207-A-C	c.519T>G	p.S173=	Synonymous	6/15	-	1
5-21975207-A-G	c.519T>C	p.S173=	Synonymous	6/15	-	1
5-21975207-A-T	c.519T>A	p.S173=	Synonymous	6/15	-	1
5-21975208-G-T	c.518C>A	p.S173Y	Missense	6/15	-	1
5-21975209-A-T	c.517T>A	p.S173T	Missense	6/15	-	1
5-21975210-C-A	c.516G>T	p.M172I	Missense	6/15	-	7
5-21975210-C-G	c.516G>C	p.M172I	Missense	6/15	-	4
5-21975210-C-T	c.516G>A	p.M172I	Missense	6/15	-	4
5-21975217-G-T	c.509C>A	p.P170Q	Missense	6/15	-	1
5-21975219-A-G	c.507T>C	p.V169=	Synonymous	6/15	-	2
5-21975220-A-G	c.506T>C	p.V169A	Missense	6/15	-	1
5-21975223-G-C	c.503C>G	p.T168S	Missense	6/15	-	1
5-21975224-T-A	c.502A>T	p.T168S	Missense	6/15	-	1
5-21975224-T-C	c.502A>G	p.T168A	Missense	6/15	-	1
5-21975227-C-A	c.499G>T	p.A167S	Missense	6/15	-	4
5-21975227-C-T	c.499G>A	p.A167T	Missense	6/15	-	1
5-21975228-AAC-CAT	c.496_498delinsATG	p.V166M	Missense	6/15	-	1
5-21975229-A-G	c.497T>C	p.V166A	Missense	6/15	-	1
5-21975231-A-G	c.495T>C	p.Y165=	Synonymous	6/15	-	1
5-21975232-T-A	c.494A>T	p.Y165F	Missense	6/15	-	1
5-21975236-G-T	c.490C>A	p.P164T	Missense	6/15	-	4
5-21975238-C-A	c.488G>T	p.G163V	Missense	6/15	-	1
5-21975238-C-G	c.488G>C	p.G163A	Missense	6/15	-	1
5-21975238-C-T	c.488G>A	p.G163E	Missense	6/15	-	2
5-21975241-T-A	c.485A>T	p.D162V	Missense	6/15	-	1
5-21975241-T-C	c.485A>G	p.D162G	Missense	6/15	-	1
5-21975242-C-A	c.484G>T	p.D162Y	Missense	6/15	-	1
5-21975242-C-G	c.484G>C	p.D162H	Missense	6/15	-	2
5-21975243-C-T	c.483G>A	p.L161=	Synonymous	6/15	-	3
5-21975244-A-C	c.482T>G	p.L161W	Missense	6/15	-	3
5-21975249-C-T	c.477G>A	p.K159=	Synonymous	6/15	-	1
5-21975251-T-C	c.475A>G	p.K159E	Missense	6/15	-	1
5-21975255-C-A	c.471G>T	p.E157D	Missense	6/15	-	1
5-21975255-C-G	c.471G>C	p.E157D	Missense	6/15	-	1
5-21975261-A-C	c.465T>G	p.D155E	Missense	6/15	-	1
5-21975261-A-G	c.465T>C	p.D155=	Synonymous	6/15	-	1
5-21975261-A-T	c.465T>A	p.D155E	Missense	6/15	-	1
5-21975266-T-C	c.460A>G	p.N154D	Missense	6/15	-	2
5-21975268-A-T	c.458T>A	p.I153N	Missense	6/15	-	2
5-21975270-A-C	c.456T>G	p.D152E	Missense	6/15	-	1
5-21975270-A-T	c.456T>A	p.D152E	Missense	6/15	-	1
5-21975272-C-T	c.454G>A	p.D152N	Missense	6/15	-	6
5-21975274-T-C	c.452A>G	p.Q151R	Missense	6/15	-	1
5-21975277-A-G	c.449T>C	p.V150A	Missense	6/15	-	1
5-21975278-C-A	c.448G>T	p.V150L	Missense	6/15	-	1
5-21975278-C-G	c.448G>C	p.V150L	Missense	6/15	-	1
5-21975279-T-A	c.447A>T	p.K149N	Missense	6/15	-	3
5-21975279-T-G	c.447A>C	p.K149N	Missense	6/15	-	2
5-21975285-G-A	c.441C>T	p.I147=	Synonymous	6/15	-	1
5-21975285-G-T	c.441C>A	p.I147=	Synonymous	6/15	-	1
5-21975288-G-A	c.438C>T	p.F146=	Synonymous	6/15	-	2
5-21975288-G-C	c.438C>G	p.F146L	Missense	6/15	-	2
5-21975288-G-T	c.438C>A	p.F146L	Missense	6/15	-	2
5-21975290-A-C	c.436T>G	p.F146V	Missense	6/15	-	1
5-21975290-A-G	c.436T>C	p.F146L	Missense	6/15	-	2
5-21975295-G-A	c.431C>T	p.S144L	Missense	6/15	-	2
5-21975298-T-C	c.428A>G	p.E143G	Missense	6/15	-	1
5-21975299-C-A	c.427G>T	p.E143*	Nonsense	6/15	-	2
5-21975302-G-A	c.424C>T	p.P142S	Missense	6/15	-	1
5-21975303-C-A	c.423G>T	p.E141D	Missense	6/15	-	1
5-21975304-T-G	c.422A>C	p.E141A	Missense	6/15	-	1
5-21975310-G-A	c.416C>T	p.P139L	Missense	6/15	-	4
5-21975311-G-A	c.415C>T	p.P139S	Missense	6/15	-	1
5-21975313-T-G	c.413A>C	p.K138T	Missense	6/15	-	1
5-21975318-G-A	c.408C>T	p.T136=	Synonymous	6/15	-	3
5-21975318-G-C	c.408C>G	p.T136=	Synonymous	6/15	-	3
5-21975318-G-T	c.408C>A	p.T136=	Synonymous	6/15	-	3
5-21975323-C-A	c.403G>T	p.E135*	Nonsense	6/15	-	1
5-21975323-C-T	c.403G>A	p.E135K	Missense	6/15	-	6
5-21975326-T-C	c.400A>G	p.I134V	Missense	6/15	-	1
5-21975327-G-C	c.399C>G	p.D133E	Missense	6/15	-	1
5-21975327-G-T	c.399C>A	p.D133E	Missense	6/15	-	1
5-21975329-C-T	c.397G>A	p.D133N	Missense	6/15	-	1
5-21975332-C-A	c.394G>T	p.V132L	Missense	6/15	-	2
5-21975332-C-G	c.394G>C	p.V132L	Missense	6/15	-	2
5-21975331-ACAG-A	c.392_394del	p.A131del	InFrameDeletion	6/15	-	1
5-21975335-C-A	c.391G>T	p.A131S	Missense	6/15	-	1
5-21975343-C-G	c.383G>C	p.R128P	Missense	6/15	-	1
5-21975343-C-T	c.383G>A	p.R128H	Missense	6/15	-	3
5-21975344-G-A	c.382C>T	p.R128C	Missense	6/15	-	9
5-21975347-G-C	c.379C>G	p.L127V	Missense	6/15	-	2
5-21975347-G-T	c.379C>A	p.L127I	Missense	6/15	-	1
5-21975349-G-C	c.377C>G	p.T126S	Missense	6/15	-	2
5-21975350-T-A	c.376A>T	p.T126S	Missense	6/15	-	1
5-21975350-T-C	c.376A>G	p.T126A	Missense	6/15	-	1
5-21975351-G-C	c.375C>G	p.Y125*	Nonsense	6/15	-	1
5-21975351-G-T	c.375C>A	p.Y125*	Nonsense	6/15	-	1
5-21975354-G-T	c.372C>A	p.F124L	Missense	6/15	-	3
5-21975356-A-C	c.370T>G	p.F124V	Missense	6/15	-	1
5-21975358-G-A	c.368C>T	p.P123L	Missense	6/15	-	4
5-21975359-G-A	c.367C>T	p.P123S	Missense	6/15	-	2
5-21975359-G-T	c.367C>A	p.P123T	Missense	6/15	-	2
5-21975361-T-G	c.365A>C	p.K122T	Missense	6/15	-	1
5-21975363-C-A	c.363G>T	p.E121D	Missense	6/15	-	3
5-21975363-C-G	c.363G>C	p.E121D	Missense	6/15	-	3
5-21975363-C-T	c.363G>A	p.E121=	Synonymous	6/15	-	2
5-21975365-C-G	c.361G>C	p.E121Q	Missense	6/15	-	2
5-21975370-C-G	c.356G>C	p.R119T	Missense	6/15	-	1
5-21975370-C-T	c.356G>A	p.R119K	Missense	6/15	-	6
5-21975371-T-A	c.355A>T	p.R119*	Nonsense	6/15	-	1
5-21975374-C-T	c.352G>A	p.D118N	Missense	6/15	-	2
5-21975377-G-C	c.349C>G	p.L117V	Missense	6/15	-	1
5-21975378-G-A	c.348C>T	p.S116=	Synonymous	6/15	-	1
5-21975378-G-T	c.348C>A	p.S116R	Missense	6/15	-	1
5-21975381-C-T	c.345G>A	p.R115=	Synonymous	6/15	-	1
5-21975383-T-G	c.343A>C	p.R115=	Synonymous	6/15	-	2
5-21975383-T-C	c.343A>G	p.R115G	Missense	6/15	-	2
5-21975391-T-C	c.335A>G	p.H112R	Missense	6/15	-	1
5-21975392-G-A	c.334C>T	p.H112Y	Missense	6/15	-	2
5-21975394-A-C	c.332T>G	p.I111S	Missense	6/15	-	1
5-21975394-A-G	c.332T>C	p.I111T	Missense	6/15	-	1
5-21975396-G-C	c.330C>G	p.D110E	Missense	6/15	-	1
5-21975396-G-T	c.330C>A	p.D110E	Missense	6/15	-	1
5-21975398-C-T	c.328G>A	p.D110N	Missense	6/15	-	1
5-21975399-C-A	c.327G>T	p.G109=	Synonymous	6/15	-	1
5-21975399-C-G	c.327G>C	p.G109=	Synonymous	6/15	-	1
5-21975399-C-T	c.327G>A	p.G109=	Synonymous	6/15	-	1
5-21975400-C-A	c.326G>T	p.G109V	Missense	6/15	-	4
5-21975400-C-G	c.326G>C	p.G109A	Missense	6/15	-	1
5-21975401-C-G	c.325G>C	p.G109R	Missense	6/15	-	3
5-21975401-C-T	c.325G>A	p.G109R	Missense	6/15	-	4
5-21975402-T-A	c.324A>T	p.T108=	Synonymous	6/15	-	1
5-21975402-T-C	c.324A>G	p.T108=	Synonymous	6/15	-	1
5-21975402-T-G	c.324A>C	p.T108=	Synonymous	6/15	-	1
5-21975405-G-T	c.321C>A	p.T107=	Synonymous	6/15	-	2
5-21975407-T-A	c.319A>T	p.T107S	Missense	6/15	-	1
5-21975407-T-G	c.319A>C	p.T107P	Missense	6/15	-	1
5-21975410-C-T	c.316G>A	p.E106K	Missense	6/15	-	1
5-21975413-C-T	c.313G>A	p.D105N	Missense	6/15	-	1
5-21975416-T-C	c.310A>G	p.I104V	Missense	6/15	-	5
5-21975417-GG-CT	c.308_309delinsAG	p.T103K	Missense	6/15	-	1
5-21975418-G-A	c.308C>T	p.T103I	Missense	6/15	-	1
5-21975418-G-T	c.308C>A	p.T103N	Missense	6/15	-	1
5-21975420-A-G	c.306T>C	p.F102=	Synonymous	6/15	-	1
5-21975424-A-G	c.302T>C	p.V101A	Missense	6/15	-	3
5-21975425-C-A	c.301G>T	p.V101F	Missense	6/15	-	2
5-21975425-C-T	c.301G>A	p.V101I	Missense	6/15	-	2
5-21975426-G-A	c.300C>T	p.T100=	Synonymous	6/15	-	1
5-21975426-G-C	c.300C>G	p.T100=	Synonymous	6/15	-	1
5-21975426-G-T	c.300C>A	p.T100=	Synonymous	6/15	-	1
5-21975427-G-A	c.299C>T	p.T100I	Missense	6/15	-	4
5-21975430-C-A	c.296G>T	p.G99V	Missense	6/15	-	1
5-21975430-C-T	c.296G>A	p.G99D	Missense	6/15	-	1
5-21975431-C-A	c.295G>T	p.G99C	Missense	6/15	-	1
5-21975433-G-T	c.293C>A	p.A98D	Missense	6/15	-	1
5-21975434-C-A	c.292G>T	p.A98S	Missense	6/15	-	1
5-21975434-C-G	c.292G>C	p.A98P	Missense	6/15	-	1
5-21975434-C-T	c.292G>A	p.A98T	Missense	6/15	-	3
5-21975435-G-A	c.291C>T	p.G97=	Synonymous	6/15	-	3
5-21975435-G-C	c.291C>G	p.G97=	Synonymous	6/15	-	1
5-21975435-G-T	c.291C>A	p.G97=	Synonymous	6/15	-	1
5-21975436-C-T	c.290G>A	p.G97D	Missense	6/15	-	1
5-21975440-C-G	c.286G>C	p.D96H	Missense	6/15	-	2
5-21975442-C-A	c.284G>T	p.G95V	Missense	6/15	-	2
5-21975443-C-G	c.283G>C	p.G95R	Missense	6/15	-	2
5-21975443-C-T	c.283G>A	p.G95R	Missense	6/15	-	4
5-21975445-G-C	c.281C>G	p.S94*	Nonsense	6/15	-	1
5-21975445-G-T	c.281C>A	p.S94*	Nonsense	6/15	-	1
5-21975449-G-T	c.277C>A	p.L93I	Missense	6/15	-	1
5-21975451-G-T	c.275C>A	p.T92N	Missense	6/15	-	3
5-21975457-T-C	c.269A>G	p.K90R	Missense	6/15	-	3
5-21975459-C-A	c.267G>T	p.V89=	Synonymous	6/15	-	2
5-21975459-C-G	c.267G>C	p.V89=	Synonymous	6/15	-	2
5-21975459-C-T	c.267G>A	p.V89=	Synonymous	6/15	-	6
5-21975460-A-G	c.266T>C	p.V89A	Missense	6/15	-	1
5-21975465-G-A	c.261C>T	p.G87=	Synonymous	6/15	-	2
5-21975466-C-T	c.260G>A	p.G87D	Missense	6/15	-	1
5-21975467-C-A	c.259G>T	p.G87C	Missense	6/15	-	1
5-21975470-C-T	c.256G>A	p.E86K	Missense	6/15	-	9
5-21975472-C-T	c.254G>A	p.G85E	Missense	6/15	-	4
5-21975473-C-G	c.253G>C	p.G85R	Missense	6/15	-	2
5-21975473-C-T	c.253G>A	p.G85R	Missense	6/15	-	2
5-21975474-C-T	c.252G>A	p.K84=	Synonymous	6/15	-	1
5-21975477-G-C	c.249C>G	p.D83E	Missense	6/15	-	2
5-21975477-G-T	c.249C>A	p.D83E	Missense	6/15	-	2
5-21975481-A-G	c.245T>C	p.L82S	Missense	6/15	-	1
5-21975483-G-A	c.243C>T	p.D81=	Synonymous	6/15	-	1
5-21975485-C-T	c.241G>A	p.D81N	Missense	6/15	-	3
5-21975486-G-A	c.240C>T	p.S80=	Synonymous	6/15	-	1
5-21975487-G-A	c.239C>T	p.S80F	Missense	6/15	-	4
5-21975494-G-T	c.232C>A	p.L78I	Missense	6/15	-	1
5-22003670-G-A	c.232-28176C>T	-	IntronicSNV	-	5/14	1
5-22036251-A-G	c.231+42304T>C	-	IntronicSNV	-	5/14	1
5-22036251-A-T	c.231+42304T>A	-	IntronicSNV	-	5/14	1
5-22042441-TA-T	c.231+36113del	-	IntronicDeletion	-	5/14	1
5-22053517-T-A	c.231+25038A>T	-	IntronicSNV	-	5/14	1
5-22055982-G-A	c.231+22573C>T	-	IntronicSNV	-	5/14	1
5-22057018-AT-A	c.231+21536del	-	IntronicDeletion	-	5/14	1
5-22058108-T-TTCTG	c.231+20446_231+20447insCAGA	-	IntronicInsertion	-	5/14	1
5-22058108-T-TTCTTTCTA	c.231+20446_231+20447insTAGAAAGA	-	IntronicInsertion	-	5/14	1
5-22058108-T-TTCTTTCTATCTA	c.231+20446_231+20447insTAGATAGAAAGA	-	IntronicInsertion	-	5/14	1
5-22058927-CA-C	c.231+19627del	-	IntronicDeletion	-	5/14	1
5-22064133-C-A	c.231+14422G>T	-	IntronicSNV	-	5/14	1
5-22073147-A-C	c.231+5408T>G	-	IntronicSNV	-	5/14	1
5-22074666-C-G	c.231+3889G>C	-	IntronicSNV	-	5/14	1
5-22077182-TGTGTGC-T	c.231+1367_231+1372del	-	IntronicDeletion	-	5/14	1
5-22078554-C-G	c.231+1G>C	-	IntronicSNV	-	5/14	1
5-22078554-C-T	c.231+1G>A	-	IntronicSNV	-	5/14	1
5-22078555-C-T	c.231G>A	p.K77=	Synonymous	5/15	-	2
5-22078556-T-G	c.230A>C	p.K77T	Missense	5/15	-	2
5-22078558-T-A	c.228A>T	p.G76=	Synonymous	5/15	-	1
5-22078558-T-C	c.228A>G	p.G76=	Synonymous	5/15	-	1
5-22078558-T-G	c.228A>C	p.G76=	Synonymous	5/15	-	1
5-22078559-C-T	c.227G>A	p.G76E	Missense	5/15	-	3
5-22078562-A-G	c.224T>C	p.V75A	Missense	5/15	-	2
5-22078566-A-T	c.220T>A	p.Y74N	Missense	5/15	-	1
5-22078567-C-A	c.219G>T	p.Q73H	Missense	5/15	-	1
5-22078567-C-G	c.219G>C	p.Q73H	Missense	5/15	-	1
5-22078568-T-C	c.218A>G	p.Q73R	Missense	5/15	-	1
5-22078569-G-A	c.217C>T	p.Q73*	Nonsense	5/15	-	1
5-22078571-G-A	c.215C>T	p.P72L	Missense	5/15	-	1
5-22078576-G-A	c.210C>T	p.S70=	Synonymous	5/15	-	1
5-22078576-G-C	c.210C>G	p.S70=	Synonymous	5/15	-	1
5-22078576-G-T	c.210C>A	p.S70=	Synonymous	5/15	-	1
5-22078580-C-A	c.206G>T	p.G69V	Missense	5/15	-	3
5-22078580-C-G	c.206G>C	p.G69A	Missense	5/15	-	1
5-22078581-C-A	c.205G>T	p.G69C	Missense	5/15	-	1
5-22078582-C-A	c.204G>T	p.V68=	Synonymous	5/15	-	4
5-22078582-C-G	c.204G>C	p.V68=	Synonymous	5/15	-	4
5-22078582-C-T	c.204G>A	p.V68=	Synonymous	5/15	-	3
5-22078584-C-A	c.202G>T	p.V68L	Missense	5/15	-	4
5-22078584-C-T	c.202G>A	p.V68M	Missense	5/15	-	32
5-22078585-G-A	c.201C>T	p.Y67=	Synonymous	5/15	-	4
5-22078585-G-T	c.201C>A	p.Y67*	Nonsense	5/15	-	1
5-22078586-T-A	c.200A>T	p.Y67F	Missense	5/15	-	2
5-22078590-C-T	c.196G>A	p.E66K	Missense	5/15	-	1
5-22078591-T-C	c.195A>G	p.E65=	Synonymous	5/15	-	4
5-22078593-C-A	c.193G>T	p.E65*	Nonsense	5/15	-	1
5-22078593-C-T	c.193G>A	p.E65K	Missense	5/15	-	1
5-22078594-C-T	c.192G>A	p.L64=	Synonymous	5/15	-	1
5-22078596-G-C	c.190C>G	p.L64V	Missense	5/15	-	1
5-22078596-G-T	c.190C>A	p.L64M	Missense	5/15	-	1
5-22078598-A-T	c.188T>A	p.V63E	Missense	5/15	-	1
5-22078599-C-A	c.187G>T	p.V63L	Missense	5/15	-	1
5-22078599-C-G	c.187G>C	p.V63L	Missense	5/15	-	1
5-22078604-A-T	c.182T>A	p.F61Y	Missense	5/15	-	1
5-22078599-CA-C	c.186del	p.F62Lfs*21	Frameshift	5/15	-	1
5-22078599-C-CA	c.186dup	p.V63Cfs*43	Frameshift	5/15	-	3
5-22078605-A-AG	c.180_181insC	p.F61Lfs*45	Frameshift	5/15	-	1
5-22078608-G-A	c.178C>T	p.Q60*	Nonsense	5/15	-	3
5-22078608-G-T	c.178C>A	p.Q60K	Missense	5/15	-	1
5-22078616-A-C	c.170T>G	p.V57G	Missense	5/15	-	1
5-22078618-C-T	c.168G>A	p.W56*	Nonsense	5/15	-	2
5-22078619-C-A	c.167G>T	p.W56L	Missense	5/15	-	1
5-22078620-A-C	c.166T>G	p.W56G	Missense	5/15	-	2
5-22078620-A-G	c.166T>C	p.W56R	Missense	5/15	-	1
5-22078620-A-T	c.166T>A	p.W56R	Missense	5/15	-	1
5-22078621-G-A	c.165C>T	p.G55=	Synonymous	5/15	-	2
5-22078621-G-C	c.165C>G	p.G55=	Synonymous	5/15	-	2
5-22078621-G-T	c.165C>A	p.G55=	Synonymous	5/15	-	2
5-22078623-C-A	c.163G>T	p.G55C	Missense	5/15	-	2
5-22078625-C-A	c.161G>T	p.R54L	Missense	5/15	-	1
5-22078626-G-A	c.160C>T	p.R54C	Missense	5/15	-	2
5-22078627-T-A	c.159A>T	p.K53N	Missense	5/15	-	1
5-22078627-T-G	c.159A>C	p.K53N	Missense	5/15	-	2
5-22078629-T-A	c.157A>T	p.K53*	Nonsense	5/15	-	1
5-22078633-A-C	c.153T>G	p.R51=	Synonymous	5/15	-	1
5-22078633-A-G	c.153T>C	p.R51=	Synonymous	5/15	-	1
5-22078633-A-T	c.153T>A	p.R51=	Synonymous	5/15	-	1
5-22078634-C-G	c.152G>C	p.R51P	Missense	5/15	-	1
5-22078634-C-T	c.152G>A	p.R51H	Missense	5/15	-	8
5-22078635-G-A	c.151C>T	p.R51C	Missense	5/15	-	1
5-22078638-G-A	c.148C>T	p.Q50*	Nonsense	5/15	-	1
5-22078637-TG-T	c.148del	p.Q50Nfs*33	Frameshift	5/15	-	1
5-22078639-G-A	c.147C>T	p.F49=	Synonymous	5/15	-	2
5-22078644-G-A	c.142C>T	p.H48Y	Missense	5/15	-	1
5-22078648-C-A	c.138G>T	p.R46=	Synonymous	5/15	-	1
5-22078649-C-A	c.137G>T	p.R46L	Missense	5/15	-	5
5-22078649-C-G	c.137G>C	p.R46P	Missense	5/15	-	1
5-22078649-C-T	c.137G>A	p.R46Q	Missense	5/15	-	2
5-22078650-G-A	c.136C>T	p.R46W	Missense	5/15	-	9
5-22078655-C-A	c.131G>T	p.G44V	Missense	5/15	-	1
5-22078655-C-T	c.131G>A	p.G44E	Missense	5/15	-	2
5-22078657-T-C	c.129A>G	p.P43=	Synonymous	5/15	-	1
5-22078665-G-A	c.121C>T	p.H41Y	Missense	5/15	-	8
5-22078665-G-T	c.121C>A	p.H41N	Missense	5/15	-	1
5-22078666-G-A	c.120C>T	p.I40=	Synonymous	5/15	-	3
5-22078666-G-T	c.120C>A	p.I40=	Synonymous	5/15	-	1
5-22078668-T-C	c.118A>G	p.I40V	Missense	5/15	-	3
5-22078671-C-T	c.115G>A	p.V39I	Missense	5/15	-	1
5-22078676-T-A	c.110A>T	p.E37V	Missense	5/15	-	1
5-22078677-C-A	c.109G>T	p.E37*	Nonsense	5/15	-	2
5-22078677-C-T	c.109G>A	p.E37K	Missense	5/15	-	3
5-22078682-G-T	c.104C>A	p.P35Q	Missense	5/15	-	2
5-22078683-G-A	c.103C>T	p.P35S	Missense	5/15	-	1
5-22078685-T-G	c.101A>C	p.E34A	Missense	5/15	-	1
5-22078686-C-A	c.100G>T	p.E34*	Nonsense	5/15	-	1
5-22078686-C-G	c.100G>C	p.E34Q	Missense	5/15	-	3
5-22078686-C-T	c.100G>A	p.E34K	Missense	5/15	-	1
5-22078688-G-T	c.98C>A	p.T33K	Missense	5/15	-	2
5-22078691-GC-TT	c.94_95delinsAA	p.A32N	Missense	5/15	-	1
5-22078692-C-G	c.94G>C	p.A32P	Missense	5/15	-	1
5-22078692-C-T	c.94G>A	p.A32T	Missense	5/15	-	1
5-22078693-T-G	c.93A>C	p.L31F	Missense	5/15	-	1
5-22078694-A-G	c.92T>C	p.L31S	Missense	5/15	-	1
5-22078696-A-C	c.90T>G	p.T30=	Synonymous	5/15	-	3
5-22078696-A-G	c.90T>C	p.T30=	Synonymous	5/15	-	1
5-22078696-A-T	c.90T>A	p.T30=	Synonymous	5/15	-	1
5-22078697-G-C	c.89C>G	p.T30S	Missense	5/15	-	1
5-22078697-G-T	c.89C>A	p.T30N	Missense	5/15	-	2
5-22078699-C-A	c.87G>T	p.Q29H	Missense	5/15	-	2
5-22078699-C-G	c.87G>C	p.Q29H	Missense	5/15	-	3
5-22078701-G-A	c.85C>T	p.Q29*	Nonsense	5/15	-	2
5-22078701-G-T	c.85C>A	p.Q29K	Missense	5/15	-	4
5-22078702-C-T	c.84G>A	p.Q28=	Synonymous	5/15	-	2
5-22078705-T-A	c.81A>T	p.P27=	Synonymous	5/15	-	4
5-22078710-G-A	c.76C>T	p.Q26*	Nonsense	5/15	-	1
5-22078712-G-A	c.74C>T	p.P25L	Missense	5/15	-	3
5-22078712-G-T	c.74C>A	p.P25Q	Missense	5/15	-	1
5-22078714-T-G	c.72A>C	p.Q24H	Missense	5/15	-	1
5-22078716-G-A	c.70C>T	p.Q24*	Nonsense	5/15	-	2
5-22078718-A-T	c.68T>A	p.L23Q	Missense	5/15	-	1
5-22078721-G-A	c.65C>T	p.P22L	Missense	5/15	-	1
5-22078721-G-T	c.65C>A	p.P22Q	Missense	5/15	-	1
5-22078722-G-C	c.64C>G	p.P22A	Missense	5/15	-	2
5-22078722-G-T	c.64C>A	p.P22T	Missense	5/15	-	2
5-22078724-G-A	c.62C>T	p.T21I	Missense	5/15	-	3
5-22078726-TTAG-T	c.58_60del	p.L20del	InFrameDeletion	5/15	-	1
5-22078728-G-A	c.58C>T	p.L20=	Synonymous	5/15	-	1
5-22078729-G-A	c.57C>T	p.L19=	Synonymous	5/15	-	1
5-22078729-G-C	c.57C>G	p.L19=	Synonymous	5/15	-	1
5-22078729-G-T	c.57C>A	p.L19=	Synonymous	5/15	-	1
5-22078730-A-T	c.56T>A	p.L19H	Missense	5/15	-	1
5-22078731-G-A	c.55C>T	p.L19F	Missense	5/15	-	3
5-22078733-C-T	c.53G>A	p.G18D	Missense	5/15	-	2
5-22078734-C-A	c.52G>T	p.G18C	Missense	5/15	-	1
5-22078736-C-T	c.50G>A	p.G17E	Missense	5/15	-	3
5-22078737-C-A	c.49G>T	p.G17*	Nonsense	5/15	-	2
5-22078740-C-A	c.46G>T	p.D16Y	Missense	5/15	-	1
5-22078740-C-G	c.46G>C	p.D16H	Missense	5/15	-	1
5-22078740-C-T	c.46G>A	p.D16N	Missense	5/15	-	1
5-22078741-A-T	c.45T>A	p.F15L	Missense	5/15	-	1
5-22078744-C-A	c.42G>T	p.L14=	Synonymous	5/15	-	1
5-22078746-G-A	c.40C>T	p.L14=	Synonymous	5/15	-	5
5-22078746-G-T	c.40C>A	p.L14M	Missense	5/15	-	3
5-22078749-C-G	c.37G>C	p.V13L	Missense	5/15	-	1
5-22078750-C-A	c.36G>T	p.W12C	Missense	5/15	-	1
5-22078750-C-G	c.36G>C	p.W12C	Missense	5/15	-	1
5-22078751-C-A	c.35G>T	p.W12L	Missense	5/15	-	1
5-22078751-C-T	c.35G>A	p.W12*	Nonsense	5/15	-	1
5-22078752-A-C	c.34T>G	p.W12G	Missense	5/15	-	1
5-22078752-A-T	c.34T>A	p.W12R	Missense	5/15	-	2
5-22078756-A-T	c.30T>A	p.L10=	Synonymous	5/15	-	1
5-22078758-G-A	c.28C>T	p.L10F	Missense	5/15	-	1
5-22078758-G-T	c.28C>A	p.L10I	Missense	5/15	-	1
5-22078761-G-T	c.25C>A	p.L9M	Missense	5/15	-	2
5-22078762-G-A	c.24C>T	p.S8=	Synonymous	5/15	-	1
5-22078762-GG-TT	c.23_24delinsAA	p.S8*	Nonsense	5/15	-	1
5-22078763-G-A	c.23C>T	p.S8F	Missense	5/15	-	6
5-22078765-T-C	c.21A>G	p.L7=	Synonymous	5/15	-	1
5-22078767-A-C	c.19T>G	p.L7V	Missense	5/15	-	1
5-22078767-A-G	c.19T>C	p.L7=	Synonymous	5/15	-	1
5-22078769-C-G	c.17G>C	p.C6S	Missense	5/15	-	3
5-22078770-A-T	c.16T>A	p.C6S	Missense	5/15	-	1
5-22078771-G-A	c.15C>T	p.N5=	Synonymous	5/15	-	1
5-22078771-G-T	c.15C>A	p.N5K	Missense	5/15	-	2
5-22078774-C-T	c.12G>A	p.R4=	Synonymous	5/15	-	4
5-22078775-C-T	c.11G>A	p.R4K	Missense	5/15	-	2
5-22078781-A-C	c.5T>G	p.L2R	Missense	5/15	-	1
5-22507174-C-T	c.-522-1701G>A	-	IntronicSNV	-	1/14	1
5-22091308-A-G	c.-186-12337T>C	-	IntronicSNV	-	4/14	1
5-22095476-C-A	c.-427-16264G>T	-	IntronicSNV	-	2/14	1
5-22101322-T-A	c.-186-22351A>T	-	IntronicSNV	-	4/14	4
5-22101322-T-C	c.-186-22351A>G	-	IntronicSNV	-	4/14	4
5-22110396-G-T	c.-186-31425C>A	-	IntronicSNV	-	4/14	1
5-22111757-T-A	c.-186-32786A>T	-	IntronicSNV	-	4/14	1
5-22112742-A-C	c.-427-33530T>G	-	IntronicSNV	-	2/14	1
5-22455096-T-C	c.-427-49636A>G	-	IntronicSNV	-	2/14	1
5-22149725-T-C	c.-332-70608A>G	-	IntronicSNV	-	3/14	1
5-22153818-C-A	c.-187+58789G>T	-	intron_variant	-	4/14	1
5-22165628-C-T	c.-187+46979G>A	-	intron_variant	-	4/14	1
5-22166197-T-C	c.-187+46410A>G	-	intron_variant	-	4/14	2
5-22166197-T-G	c.-187+46410A>C	-	intron_variant	-	4/14	2
5-22598898-T-C	c.-522-93425A>G	-	IntronicSNV	-	1/14	1
5-22179065-T-C	c.-187+33542A>G	-	intron_variant	-	4/14	2
5-22185310-T-C	c.-187+27297A>G	-	intron_variant	-	4/14	1
5-22191962-C-A	c.-187+20645G>T	-	intron_variant	-	4/14	1
5-22191962-C-T	c.-187+20645G>A	-	intron_variant	-	4/14	1
5-22193967-C-T	c.-187+18640G>A	-	intron_variant	-	4/14	1
5-22200000-C-A	c.-187+12607G>T	-	intron_variant	-	4/14	1
5-22200868-T-TAG	c.-522-121562_-522-121561insCT	-	IntronicInsertion	-	1/14	1
5-22208991-A-C	c.-187+3616T>G	-	intron_variant	-	4/14	1
5-22208991-A-G	c.-187+3616T>C	-	intron_variant	-	4/14	1
5-22210706-C-G	c.-187+1901G>C	-	intron_variant	-	4/14	1
5-22212632-G-A	c.-212C>T	-	5_prime_UTR_variant	4/15	-	4
5-22212632-G-C	c.-212C>G	-	5_prime_UTR_variant	4/15	-	4
5-22642534-C-T	c.-522-137061G>A	-	IntronicSNV	-	1/14	1
5-22234705-C-T	c.-332-21953G>A	-	intron_variant	-	3/14	1
5-22243068-G-A	c.-332-30316C>T	-	intron_variant	-	3/14	1
5-22262686-C-T	c.-332-49934G>A	-	intron_variant	-	3/14	1
5-22283388-T-C	c.-332-70636A>G	-	intron_variant	-	3/14	1
5-22294994-A-G	c.-332-82242T>C	-	intron_variant	-	3/14	1
5-22297532-G-A	c.-332-84780C>T	-	intron_variant	-	3/14	1
5-22316095-C-T	c.-333+89271G>A	-	intron_variant	-	3/14	1
5-22318992-A-G	c.-333+86374T>C	-	intron_variant	-	3/14	1
5-22324295-C-T	c.-333+81071G>A	-	intron_variant	-	3/14	1
5-22324880-C-T	c.-333+80486G>A	-	intron_variant	-	3/14	1
5-22335522-G-A	c.-333+69844C>T	-	intron_variant	-	3/14	1
5-22349231-G-A	c.-333+56135C>T	-	intron_variant	-	3/14	1
5-22379893-C-A	c.-333+25473G>T	-	intron_variant	-	3/14	1
5-22379893-C-T	c.-333+25473G>A	-	intron_variant	-	3/14	1
5-22398568-A-G	c.-333+6798T>C	-	intron_variant	-	3/14	1
5-22400089-A-G	c.-333+5277T>C	-	intron_variant	-	3/14	1
5-22405345-C-A	c.-333+21G>T	-	intron_variant	-	3/14	1
5-22405345-C-G	c.-333+21G>C	-	intron_variant	-	3/14	1
5-22406132-G-A	c.-427-672C>T	-	intron_variant	-	2/14	1
5-22425188-G-T	c.-427-19728C>A	-	intron_variant	-	2/14	1
5-22425262-G-A	c.-427-19802C>T	-	intron_variant	-	2/14	1
5-22446214-A-G	c.-427-40754T>C	-	intron_variant	-	2/14	2
5-22457058-T-A	c.-428+48321A>T	-	intron_variant	-	2/14	1
5-22457058-T-G	c.-428+48321A>C	-	intron_variant	-	2/14	1
5-22471219-G-A	c.-428+34160C>T	-	intron_variant	-	2/14	1
5-22471219-G-C	c.-428+34160C>G	-	intron_variant	-	2/14	1
5-22476100-T-C	c.-428+29279A>G	-	intron_variant	-	2/14	3
5-22492460-T-A	c.-428+12919A>T	-	intron_variant	-	2/14	1
5-22508413-G-A	c.-522-2940C>T	-	intron_variant	-	1/14	1
5-22529137-C-G	c.-522-23664G>C	-	intron_variant	-	1/14	1
5-22529137-C-T	c.-522-23664G>A	-	intron_variant	-	1/14	1
5-22529297-T-G	c.-522-23824A>C	-	intron_variant	-	1/14	1
5-22532488-G-A	c.-522-27015C>T	-	intron_variant	-	1/14	1
5-22549246-G-T	c.-522-43773C>A	-	intron_variant	-	1/14	1
5-22567744-A-G	c.-522-62271T>C	-	intron_variant	-	1/14	1
5-22573321-C-T	c.-522-67848G>A	-	intron_variant	-	1/14	1
5-22580576-G-A	c.-522-75103C>T	-	intron_variant	-	1/14	1
5-22580590-A-G	c.-522-75117T>C	-	intron_variant	-	1/14	2
5-22580590-A-T	c.-522-75117T>A	-	intron_variant	-	1/14	2
5-22586098-G-T	c.-522-80625C>A	-	intron_variant	-	1/14	1
5-22594919-A-G	c.-522-89446T>C	-	intron_variant	-	1/14	1
5-22598246-G-C	c.-522-92773C>G	-	intron_variant	-	1/14	1
5-22600095-T-C	c.-522-94622A>G	-	intron_variant	-	1/14	1
5-22616666-G-T	c.-522-111193C>A	-	intron_variant	-	1/14	2
5-22626115-G-A	c.-522-120642C>T	-	intron_variant	-	1/14	2
5-22656527-A-C	c.-522-151054T>G	-	intron_variant	-	1/14	3
5-22659406-T-C	c.-522-153933A>G	-	intron_variant	-	1/14	1
5-22677231-G-A	c.-522-171758C>T	-	intron_variant	-	1/14	2
5-22679283-C-A	c.-522-173810G>T	-	intron_variant	-	1/14	2
5-22681454-T-C	c.-523+171713A>G	-	intron_variant	-	1/14	1
5-22684257-T-A	c.-523+168910A>T	-	intron_variant	-	1/14	1
5-22684257-T-C	c.-523+168910A>G	-	intron_variant	-	1/14	1
5-22688178-G-A	c.-523+164989C>T	-	intron_variant	-	1/14	1
5-22688178-G-C	c.-523+164989C>G	-	intron_variant	-	1/14	1
5-22692625-A-G	c.-523+160542T>C	-	intron_variant	-	1/14	1
5-22705224-T-A	c.-523+147943A>T	-	intron_variant	-	1/14	2
5-22705224-T-C	c.-523+147943A>G	-	intron_variant	-	1/14	2
5-22705249-C-A	c.-523+147918G>T	-	intron_variant	-	1/14	2
5-22705249-C-T	c.-523+147918G>A	-	intron_variant	-	1/14	2
5-22712231-C-T	c.-523+140936G>A	-	intron_variant	-	1/14	1
5-22723866-G-A	c.-523+129301C>T	-	intron_variant	-	1/14	1
5-22739830-T-C	c.-523+113337A>G	-	intron_variant	-	1/14	1
5-22753887-T-A	c.-523+99280A>T	-	intron_variant	-	1/14	1
5-22762662-A-C	c.-523+90505T>G	-	intron_variant	-	1/14	1
5-22762662-A-G	c.-523+90505T>C	-	intron_variant	-	1/14	1
5-22762675-A-C	c.-523+90492T>G	-	intron_variant	-	1/14	2
5-22762903-C-A	c.-523+90264G>T	-	intron_variant	-	1/14	1
5-22780471-C-A	c.-523+72696G>T	-	intron_variant	-	1/14	1
5-22790036-T-G	c.-523+63131A>C	-	intron_variant	-	1/14	1
5-22793334-T-G	c.-523+59833A>C	-	intron_variant	-	1/14	1
5-22794657-A-G	c.-523+58510T>C	-	intron_variant	-	1/14	1
5-22812264-T-C	c.-523+40903A>G	-	intron_variant	-	1/14	2
5-22815891-A-T	c.-523+37276T>A	-	intron_variant	-	1/14	1
5-22819474-A-T	c.-523+33693T>A	-	intron_variant	-	1/14	1
5-22830553-G-C	c.-523+22614C>G	-	intron_variant	-	1/14	1
5-22830629-G-A	c.-523+22538C>T	-	intron_variant	-	1/14	1
5-22830629-G-T	c.-523+22538C>A	-	intron_variant	-	1/14	1