KIF6

KIF6 kinesin family member 6

Annotation transcript: NM_145027.6

2815 unique variant annotations were identified in 505 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
6-39297885-G-A c.*6423C>T - IntergenicSNV 23/23 - 1
6-39297967-G-A c.*6341C>T - IntergenicSNV 23/23 - 1
6-39298047-C-T c.*6261G>A - IntergenicSNV 23/23 - 1
6-39298450-T-C c.*5858A>G - IntergenicSNV 23/23 - 1
6-39298474-G-A c.*5834C>T - IntergenicSNV 23/23 - 1
6-39298750-C-A c.*5558G>T - IntergenicSNV 23/23 - 1
6-39298750-C-T c.*5558G>A - IntergenicSNV 23/23 - 1
6-39298770-A-G c.*5538T>C - IntergenicSNV 23/23 - 1
6-39298800-C-G c.*5508G>C - IntergenicSNV 23/23 - 1
6-39298800-C-T c.*5508G>A - IntergenicSNV 23/23 - 1
6-39298826-C-T c.*5482G>A - IntergenicSNV 23/23 - 1
6-39298891-C-T c.*5417G>A - IntergenicSNV 23/23 - 1
6-39298911-T-C c.*5397A>G - IntergenicSNV 23/23 - 1
6-39299124-T-G c.*5184A>C - IntergenicSNV 23/23 - 1
6-39299324-C-A c.*4984G>T - IntergenicSNV 23/23 - 1
6-39299888-A-G c.*4420T>C - IntergenicSNV 23/23 - 1
6-39299920-C-A c.*4388G>T - IntergenicSNV 23/23 - 1
6-39299937-G-A c.*4371C>T - IntergenicSNV 23/23 - 1
6-39300284-A-C c.*4024T>G - IntergenicSNV 23/23 - 1
6-39300329-C-T c.*3979G>A - IntergenicSNV 23/23 - 1
6-39300475-C-G c.*3833G>C - IntergenicSNV 23/23 - 1
6-39300495-C-T c.*3813G>A - IntergenicSNV 23/23 - 1
6-39300557-T-C c.*3751A>G - IntergenicSNV 23/23 - 1
6-39300665-C-T c.*3643G>A - IntergenicSNV 23/23 - 1
6-39300666-T-C c.*3642A>G - IntergenicSNV 23/23 - 1
6-39300913-C-G c.*3395G>C - IntergenicSNV 23/23 - 1
6-39301442-T-C c.*2866A>G - IntergenicSNV 23/23 - 1
6-39301460-A-G c.*2848T>C - IntergenicSNV 23/23 - 1
6-39301521-T-C c.*2787A>G - IntergenicSNV 23/23 - 1
6-39301532-A-G c.*2776T>C - IntergenicSNV 23/23 - 1
6-39301627-G-A c.*2681C>T - IntergenicSNV 23/23 - 1
6-39301645-C-T c.*2663G>A - IntergenicSNV 23/23 - 1
6-39301670-C-G c.*2638G>C - IntergenicSNV 23/23 - 1
6-39301792-T-C c.*2516A>G - IntergenicSNV 23/23 - 1
6-39301918-T-A c.*2390A>T - IntergenicSNV 23/23 - 1
6-39301918-T-C c.*2390A>G - IntergenicSNV 23/23 - 1
6-39302008-C-T c.*2300G>A - IntergenicSNV 23/23 - 1
6-39302022-C-T c.*2286G>A - IntergenicSNV 23/23 - 1
6-39302127-C-T c.*2181G>A - IntergenicSNV 23/23 - 1
6-39302355-C-A c.*1953G>T - IntergenicSNV 23/23 - 1
6-39302355-C-T c.*1953G>A - IntergenicSNV 23/23 - 1
6-39302432-T-C c.*1876A>G - IntergenicSNV 23/23 - 2
6-39302501-T-C c.*1807A>G - IntergenicSNV 23/23 - 1
6-39302614-T-C c.*1694A>G - IntergenicSNV 23/23 - 1
6-39302723-C-T c.*1585G>A - IntergenicSNV 23/23 - 1
6-39302832-C-T c.*1476G>A - IntergenicSNV 23/23 - 2
6-39302876-C-T c.*1432G>A - 3-UTRSNV 23/23 - 1
6-39303166-A-T c.*1142T>A - 3-UTRSNV 23/23 - 1
6-39303307-C-T c.*1001G>A - 3-UTRSNV 23/23 - 1
6-39303594-G-A c.*714C>T - 3-UTRSNV 23/23 - 3
6-39303755-G-A c.*553C>T - 3-UTRSNV 23/23 - 3
6-39303807-C-T c.*501G>A - 3-UTRSNV 23/23 - 3
6-39303813-G-A c.*495C>T - 3-UTRSNV 23/23 - 1
6-39303840-T-C c.*468A>G - 3-UTRSNV 23/23 - 1
6-39303870-C-T c.*438G>A - 3-UTRSNV 23/23 - 4
6-39303878-G-A c.*430C>T - 3-UTRSNV 23/23 - 1
6-39303966-G-A c.*342C>T - 3-UTRSNV 23/23 - 1
6-39304012-A-T c.*296T>A - 3-UTRSNV 23/23 - 1
6-39304103-T-C c.*205A>G - 3-UTRSNV 23/23 - 2
6-39304211-A-C c.*97T>G - 3-UTRSNV 23/23 - 6
6-39304211-A-G c.*97T>C - 3-UTRSNV 23/23 - 6
6-39304311-A-G c.2442T>C p.N814= Synonymous 23/23 - 2
6-39304311-A-T c.2442T>A p.N814K Missense 23/23 - 1
6-39304313-T-A c.2440A>T p.N814Y Missense 23/23 - 1
6-39304319-C-T c.2434G>A p.G812R Missense 23/23 - 1
6-39304322-A-C c.2431T>G p.L811V Missense 23/23 - 1
6-39304577-T-TTTCCTTTC c.2429-254_2429-253insGAAAGGAA - IntronicInsertion - 22/22 3
6-39304593-T-C c.2429-269A>G - IntronicSNV - 22/22 1
6-39304658-T-C c.2429-334A>G - IntronicSNV - 22/22 2
6-39304762-C-T c.2429-438G>A - IntronicSNV - 22/22 1
6-39304798-T-C c.2429-474A>G - IntronicSNV - 22/22 1
6-39304931-T-C c.2429-607A>G - IntronicSNV - 22/22 1
6-39304952-T-C c.2429-628A>G - IntronicSNV - 22/22 1
6-39305080-C-T c.2429-756G>A - IntronicSNV - 22/22 1
6-39305229-C-T c.2429-905G>A - IntronicSNV - 22/22 1
6-39305246-G-A c.2429-922C>T - IntronicSNV - 22/22 1
6-39305447-C-T c.2429-1123G>A - IntronicSNV - 22/22 1
6-39305514-A-G c.2429-1190T>C - IntronicSNV - 22/22 1
6-39306063-T-G c.2429-1739A>C - IntronicSNV - 22/22 2
6-39306541-G-A c.2429-2217C>T - IntronicSNV - 22/22 1
6-39306579-C-G c.2429-2255G>C - IntronicSNV - 22/22 1
6-39306579-C-T c.2429-2255G>A - IntronicSNV - 22/22 1
6-39306757-C-T c.2429-2433G>A - IntronicSNV - 22/22 1
6-39306937-G-A c.2429-2613C>T - IntronicSNV - 22/22 1
6-39307032-A-C c.2429-2708T>G - IntronicSNV - 22/22 1
6-39307511-G-A c.2429-3187C>T - IntronicSNV - 22/22 1
6-39307514-T-G c.2429-3190A>C - IntronicSNV - 22/22 2
6-39307627-C-T c.2429-3303G>A - IntronicSNV - 22/22 1
6-39308009-C-A c.2428+3476G>T - IntronicSNV - 22/22 1
6-39308009-C-T c.2428+3476G>A - IntronicSNV - 22/22 1
6-39308031-A-G c.2428+3454T>C - IntronicSNV - 22/22 1
6-39308207-T-A c.2428+3278A>T - IntronicSNV - 22/22 1
6-39308207-T-C c.2428+3278A>G - IntronicSNV - 22/22 1
6-39308207-T-G c.2428+3278A>C - IntronicSNV - 22/22 1
6-39308439-A-G c.2428+3046T>C - IntronicSNV - 22/22 1
6-39308539-C-A c.2428+2946G>T - IntronicSNV - 22/22 1
6-39308539-C-T c.2428+2946G>A - IntronicSNV - 22/22 1
6-39308540-G-A c.2428+2945C>T - IntronicSNV - 22/22 1
6-39308742-A-G c.2428+2743T>C - IntronicSNV - 22/22 5
6-39309765-A-G c.2428+1720T>C - IntronicSNV - 22/22 1
6-39309875-T-C c.2428+1610A>G - IntronicSNV - 22/22 1
6-39310391-T-A c.2428+1094A>T - IntronicSNV - 22/22 1
6-39310593-G-A c.2428+892C>T - IntronicSNV - 22/22 1
6-39310635-G-A c.2428+850C>T - IntronicSNV - 22/22 1
6-39310894-A-C c.2428+591T>G - IntronicSNV - 22/22 1
6-39310959-C-A c.2428+526G>T - IntronicSNV - 22/22 1
6-39311351-C-G c.2428+134G>C - IntronicSNV - 22/22 3
6-39311486-T-C c.2427A>G p.Q809= Synonymous 22/23 - 1
6-39311489-C-T c.2424G>A p.K808= Synonymous 22/23 - 1
6-39311497-G-A c.2416C>T p.L806= Synonymous 22/23 - 1
6-39311498-A-C c.2415T>G p.I805M Missense 22/23 - 1
6-39311508-C-T c.2405G>A p.R802K Missense 22/23 - 1
6-39311516-G-C c.2397C>G p.I799M Missense 22/23 - 3
6-39311516-G-T c.2397C>A p.I799= Synonymous 22/23 - 1
6-39311521-A-T c.2392T>A p.F798I Missense 22/23 - 7
6-39311524-C-A c.2389G>T p.A797S Missense 22/23 - 2
6-39311524-C-T c.2389G>A p.A797T Missense 22/23 - 2
6-39311525-G-A c.2388C>T p.I796= Synonymous 22/23 - 2
6-39311529-A-G c.2384T>C p.I795T Missense 22/23 - 1
6-39311529-A-T c.2384T>A p.I795N Missense 22/23 - 2
6-39311534-C-A c.2379G>T p.S793= Synonymous 22/23 - 1
6-39311534-C-G c.2379G>C p.S793= Synonymous 22/23 - 1
6-39311534-C-T c.2379G>A p.S793= Synonymous 22/23 - 4
6-39311535-G-A c.2378C>T p.S793L Missense 22/23 - 2
6-39311535-G-T c.2378C>A p.S793* Nonsense 22/23 - 2
6-39311539-C-T c.2374G>A p.D792N Missense 22/23 - 2
6-39311540-C-T c.2373G>A p.T791= Synonymous 22/23 - 1
6-39311541-G-A c.2372C>T p.T791M Missense 22/23 - 6
6-39311554-C-G c.2359G>C p.G787R Missense 22/23 - 9
6-39311554-C-T c.2359G>A p.G787R Missense 22/23 - 12
6-39311555-G-A c.2358C>T p.T786= Synonymous 22/23 - 4
6-39311555-G-C c.2358C>G p.T786= Synonymous 22/23 - 2
6-39311555-G-T c.2358C>A p.T786= Synonymous 22/23 - 2
6-39311558-G-A c.2355C>T p.L785= Synonymous 22/23 - 1
6-39311562-G-A c.2351C>T p.P784L Missense 22/23 - 1
6-39311562-G-T c.2351C>A p.P784H Missense 22/23 - 1
6-39311563-G-A c.2350C>T p.P784S Missense 22/23 - 1
6-39311570-C-T c.2343G>A p.S781= Synonymous 22/23 - 2
6-39311571-G-A c.2342C>T p.S781L Missense 22/23 - 3
6-39311571-G-C c.2342C>G p.S781W Missense 22/23 - 1
6-39311572-A-T c.2341T>A p.S781T Missense 22/23 - 2
6-39311574-A-C c.2339T>G p.V780G Missense 22/23 - 1
6-39311587-G-A c.2326C>T p.P776S Missense 22/23 - 1
6-39311648-T-C c.2322-57A>G - IntronicSNV - 21/22 1
6-39311937-C-T c.2322-346G>A - IntronicSNV - 21/22 1
6-39311938-G-A c.2322-347C>T - IntronicSNV - 21/22 1
6-39311938-G-C c.2322-347C>G - IntronicSNV - 21/22 1
6-39312389-C-T c.2322-798G>A - IntronicSNV - 21/22 1
6-39312610-T-C c.2321+866A>G - IntronicSNV - 21/22 1
6-39312620-C-T c.2321+856G>A - IntronicSNV - 21/22 1
6-39312635-T-TA c.2321+840dup - IntronicInsertion - 21/22 1
6-39312647-C-A c.2321+829G>T - IntronicSNV - 21/22 1
6-39312671-T-C c.2321+805A>G - IntronicSNV - 21/22 1
6-39312740-A-G c.2321+736T>C - IntronicSNV - 21/22 1
6-39313473-G-A c.2321+3C>T - IntronicSNV - 21/22 1
6-39313476-C-A c.2321G>T p.S774I Missense 21/23 - 2
6-39313480-C-T c.2317G>A p.D773N Missense 21/23 - 2
6-39313481-T-A c.2316A>T p.E772D Missense 21/23 - 1
6-39313481-T-G c.2316A>C p.E772D Missense 21/23 - 1
6-39313488-G-A c.2309C>T p.P770L Missense 21/23 - 1
6-39313488-G-T c.2309C>A p.P770Q Missense 21/23 - 2
6-39313492-T-G c.2305A>C p.T769P Missense 21/23 - 1
6-39313494-CT-TA c.2302_2303delinsTA p.S768Y Missense 21/23 - 1
6-39313503-CT-TA c.2293_2294delinsTA p.S765Y Missense 21/23 - 1
6-39313505-C-A c.2292G>T p.Q764H Missense 21/23 - 2
6-39313505-C-G c.2292G>C p.Q764H Missense 21/23 - 4
6-39313505-C-T c.2292G>A p.Q764= Synonymous 21/23 - 1
6-39313517-G-C c.2280C>G p.H760Q Missense 21/23 - 5
6-39313519-G-T c.2278C>A p.H760N Missense 21/23 - 3
6-39313529-G-A c.2268C>T p.C756= Synonymous 21/23 - 1
6-39313533-G-A c.2264C>T p.P755L Missense 21/23 - 1
6-39313536-G-A c.2261C>T p.S754L Missense 21/23 - 1
6-39313539-G-A c.2258C>T p.P753L Missense 21/23 - 1
6-39313541-C-A c.2256G>T p.L752= Synonymous 21/23 - 1
6-39313541-C-G c.2256G>C p.L752= Synonymous 21/23 - 1
6-39313541-C-T c.2256G>A p.L752= Synonymous 21/23 - 1
6-39313543-G-A c.2254C>T p.L752= Synonymous 21/23 - 2
6-39313544-G-A c.2253C>T p.I751= Synonymous 21/23 - 1
6-39313547-T-A c.2250A>T p.K750N Missense 21/23 - 1
6-39313547-T-G c.2250A>C p.K750N Missense 21/23 - 1
6-39313548-T-C c.2249A>G p.K750R Missense 21/23 - 1
6-39313551-C-A c.2246G>T p.R749M Missense 21/23 - 1
6-39313554-G-C c.2243C>G p.A748G Missense 21/23 - 1
6-39313559-C-A c.2238G>T p.V746= Synonymous 21/23 - 1
6-39313559-C-G c.2238G>C p.V746= Synonymous 21/23 - 1
6-39313559-C-T c.2238G>A p.V746= Synonymous 21/23 - 1
6-39313561-C-T c.2236G>A p.V746M Missense 21/23 - 1
6-39313618-G-GA c.2232-54_2232-53insT - IntronicInsertion - 20/22 3
6-39313750-G-A c.2232-185C>T - IntronicSNV - 20/22 1
6-39313758-G-A c.2232-193C>T - IntronicSNV - 20/22 1
6-39313772-T-C c.2232-207A>G - IntronicSNV - 20/22 3
6-39313829-T-A c.2232-264A>T - IntronicSNV - 20/22 1
6-39313829-T-C c.2232-264A>G - IntronicSNV - 20/22 1
6-39313829-T-G c.2232-264A>C - IntronicSNV - 20/22 1
6-39313908-C-T c.2232-343G>A - IntronicSNV - 20/22 1
6-39314185-G-T c.2231+67C>A - IntronicSNV - 20/22 1
6-39314242-G-T c.2231+10C>A - IntronicSNV - 20/22 2
6-39314255-A-G c.2228T>C p.V743A Missense 20/23 - 1
6-39314256-C-A c.2227G>T p.V743F Missense 20/23 - 1
6-39314259-C-T c.2224G>A p.D742N Missense 20/23 - 1
6-39314261-A-G c.2222T>C p.F741S Missense 20/23 - 1
6-39314273-C-T c.2210G>A p.G737D Missense 20/23 - 1
6-39314283-G-T c.2200C>A p.Q734K Missense 20/23 - 1
6-39314284-G-A c.2199C>T p.V733= Synonymous 20/23 - 1
6-39314286-AC-A c.2197del p.V733Sfs*14 Frameshift 20/23 - 1
6-39314289-C-T c.2194G>A p.E732K Missense 20/23 - 3
6-39314290-C-T c.2193G>A p.W731* Nonsense 20/23 - 1
6-39314291-C-T c.2192G>A p.W731* Nonsense 20/23 - 1
6-39314295-C-T c.2188G>A p.G730S Missense 20/23 - 1
6-39314846-A-G c.2181-544T>C - IntronicSNV - 19/22 1
6-39314976-A-G c.2181-674T>C - IntronicSNV - 19/22 1
6-39315067-C-G c.2181-765G>C - IntronicSNV - 19/22 1
6-39315067-C-T c.2181-765G>A - IntronicSNV - 19/22 1
6-39315254-C-G c.2181-952G>C - IntronicSNV - 19/22 1
6-39315254-C-T c.2181-952G>A - IntronicSNV - 19/22 1
6-39315256-C-T c.2181-954G>A - IntronicSNV - 19/22 1
6-39315792-C-A c.2181-1490G>T - IntronicSNV - 19/22 4
6-39315792-C-T c.2181-1490G>A - IntronicSNV - 19/22 4
6-39316481-A-G c.2181-2179T>C - IntronicSNV - 19/22 1
6-39316734-C-T c.2181-2432G>A - IntronicSNV - 19/22 1
6-39316799-C-A c.2181-2497G>T - IntronicSNV - 19/22 1
6-39316799-C-T c.2181-2497G>A - IntronicSNV - 19/22 1
6-39317291-G-T c.2181-2989C>A - IntronicSNV - 19/22 1
6-39317711-A-G c.2181-3409T>C - IntronicSNV - 19/22 1
6-39317713-C-A c.2181-3411G>T - IntronicSNV - 19/22 1
6-39317713-C-G c.2181-3411G>C - IntronicSNV - 19/22 1
6-39317739-G-A c.2181-3437C>T - IntronicSNV - 19/22 1
6-39317912-A-G c.2181-3610T>C - IntronicSNV - 19/22 1
6-39318177-T-C c.2181-3875A>G - IntronicSNV - 19/22 1
6-39318355-G-A c.2181-4053C>T - IntronicSNV - 19/22 1
6-39318756-G-A c.2181-4454C>T - IntronicSNV - 19/22 1
6-39319117-C-T c.2181-4815G>A - IntronicSNV - 19/22 1
6-39319140-G-A c.2181-4838C>T - IntronicSNV - 19/22 1
6-39319196-A-G c.2181-4894T>C - IntronicSNV - 19/22 1
6-39319399-T-A c.2181-5097A>T - IntronicSNV - 19/22 1
6-39319535-C-G c.2181-5233G>C - IntronicSNV - 19/22 1
6-39319630-A-G c.2181-5328T>C - IntronicSNV - 19/22 1
6-39319695-G-A c.2180+5358C>T - IntronicSNV - 19/22 1
6-39319695-G-T c.2180+5358C>A - IntronicSNV - 19/22 1
6-39319721-G-C c.2180+5332C>G - IntronicSNV - 19/22 1
6-39319872-T-C c.2180+5181A>G - IntronicSNV - 19/22 1
6-39319961-C-T c.2180+5092G>A - IntronicSNV - 19/22 1
6-39319969-C-G c.2180+5084G>C - IntronicSNV - 19/22 1
6-39319969-C-T c.2180+5084G>A - IntronicSNV - 19/22 1
6-39320088-A-G c.2180+4965T>C - IntronicSNV - 19/22 1
6-39320324-G-GCATCTTTC c.2180+4721_2180+4728dup - IntronicInsertion - 19/22 1
6-39320698-T-C c.2180+4355A>G - IntronicSNV - 19/22 1
6-39320702-C-T c.2180+4351G>A - IntronicSNV - 19/22 1
6-39320720-A-G c.2180+4333T>C - IntronicSNV - 19/22 1
6-39320799-T-C c.2180+4254A>G - IntronicSNV - 19/22 1
6-39320806-T-C c.2180+4247A>G - IntronicSNV - 19/22 2
6-39320806-T-G c.2180+4247A>C - IntronicSNV - 19/22 2
6-39320805-GT-G c.2180+4247del - IntronicDeletion - 19/22 1
6-39320841-G-C c.2180+4212C>G - IntronicSNV - 19/22 1
6-39320964-C-T c.2180+4089G>A - IntronicSNV - 19/22 1
6-39320992-A-G c.2180+4061T>C - IntronicSNV - 19/22 1
6-39321196-G-T c.2180+3857C>A - IntronicSNV - 19/22 1
6-39321367-C-A c.2180+3686G>T - IntronicSNV - 19/22 1
6-39321784-C-T c.2180+3269G>A - IntronicSNV - 19/22 1
6-39322111-A-G c.2180+2942T>C - IntronicSNV - 19/22 1
6-39322268-A-G c.2180+2785T>C - IntronicSNV - 19/22 1
6-39322860-G-T c.2180+2193C>A - IntronicSNV - 19/22 1
6-39323127-G-T c.2180+1926C>A - IntronicSNV - 19/22 1
6-39323270-C-T c.2180+1783G>A - IntronicSNV - 19/22 1
6-39323364-C-A c.2180+1689G>T - IntronicSNV - 19/22 1
6-39323364-C-T c.2180+1689G>A - IntronicSNV - 19/22 1
6-39323536-A-C c.2180+1517T>G - IntronicSNV - 19/22 1
6-39323536-A-T c.2180+1517T>A - IntronicSNV - 19/22 1
6-39323615-T-A c.2180+1438A>T - IntronicSNV - 19/22 1
6-39323615-T-C c.2180+1438A>G - IntronicSNV - 19/22 1
6-39324081-G-A c.2180+972C>T - IntronicSNV - 19/22 1
6-39324081-G-T c.2180+972C>A - IntronicSNV - 19/22 1
6-39324235-T-C c.2180+818A>G - IntronicSNV - 19/22 1
6-39324309-G-A c.2180+744C>T - IntronicSNV - 19/22 1
6-39324581-A-G c.2180+472T>C - IntronicSNV - 19/22 1
6-39324866-G-A c.2180+187C>T - IntronicSNV - 19/22 1
6-39324923-A-G c.2180+130T>C - IntronicSNV - 19/22 7
6-39325034-C-A c.2180+19G>T - IntronicSNV - 19/22 1
6-39325034-C-T c.2180+19G>A - IntronicSNV - 19/22 1
6-39325067-G-A c.2166C>T p.L722= Synonymous 19/23 - 1
6-39325067-G-C c.2166C>G p.L722= Synonymous 19/23 - 1
6-39325067-G-T c.2166C>A p.L722= Synonymous 19/23 - 1
6-39325070-T-C c.2163A>G p.Q721= Synonymous 19/23 - 2
6-39325072-G-A c.2161C>T p.Q721* Nonsense 19/23 - 2
6-39325072-G-C c.2161C>G p.Q721E Missense 19/23 - 2
6-39325075-A-C c.2158T>G p.S720A Missense 19/23 - 1
6-39325078-A-G c.2155T>C p.W719R Missense 19/23 - 111
6-39325078-A-T c.2155T>A p.W719R Missense 19/23 - 14
6-39325081-C-T c.2152G>A p.E718K Missense 19/23 - 9
6-39325085-C-A c.2148G>T p.Q716H Missense 19/23 - 2
6-39325085-C-G c.2148G>C p.Q716H Missense 19/23 - 1
6-39325091-G-A c.2142C>T p.D714= Synonymous 19/23 - 2
6-39325096-A-G c.2137T>C p.S713P Missense 19/23 - 1
6-39325103-G-A c.2130C>T p.L710= Synonymous 19/23 - 1
6-39325103-G-C c.2130C>G p.L710= Synonymous 19/23 - 1
6-39325103-G-T c.2130C>A p.L710= Synonymous 19/23 - 1
6-39325109-T-C c.2124A>G p.P708= Synonymous 19/23 - 1
6-39325111-G-A c.2122C>T p.P708S Missense 19/23 - 1
6-39325115-C-A c.2118G>T p.T706= Synonymous 19/23 - 1
6-39325115-C-G c.2118G>C p.T706= Synonymous 19/23 - 1
6-39325115-C-T c.2118G>A p.T706= Synonymous 19/23 - 5
6-39325117-T-C c.2116A>G p.T706A Missense 19/23 - 1
6-39325123-C-T c.2110G>A p.D704N Missense 19/23 - 2
6-39325124-G-A c.2109C>T p.L703= Synonymous 19/23 - 5
6-39325124-G-C c.2109C>G p.L703= Synonymous 19/23 - 4
6-39325124-G-T c.2109C>A p.L703= Synonymous 19/23 - 4
6-39325128-G-A c.2105C>T p.S702L Missense 19/23 - 4
6-39325129-A-G c.2104T>C p.S702P Missense 19/23 - 2
6-39325133-C-A c.2100G>T p.V700= Synonymous 19/23 - 1
6-39325133-C-G c.2100G>C p.V700= Synonymous 19/23 - 1
6-39325133-C-T c.2100G>A p.V700= Synonymous 19/23 - 1
6-39325137-G-A c.2096C>T p.A699V Missense 19/23 - 2
6-39325143-G-T c.2090C>A p.S697Y Missense 19/23 - 2
6-39325150-C-T c.2083G>A p.V695I Missense 19/23 - 2
6-39325288-G-A c.2083-138C>T - IntronicSNV - 18/22 1
6-39325416-T-A c.2083-266A>T - IntronicSNV - 18/22 1
6-39325416-T-G c.2083-266A>C - IntronicSNV - 18/22 1
6-39325439-G-A c.2083-289C>T - IntronicSNV - 18/22 1
6-39325439-G-T c.2083-289C>A - IntronicSNV - 18/22 1
6-39325493-G-C c.2083-343C>G - IntronicSNV - 18/22 1
6-39325493-G-T c.2083-343C>A - IntronicSNV - 18/22 1
6-39325549-A-G c.2083-399T>C - IntronicSNV - 18/22 1
6-39326533-C-A c.2083-1383G>T - IntronicSNV - 18/22 1
6-39326744-T-A c.2082+1427A>T - IntronicSNV - 18/22 1
6-39326744-T-C c.2082+1427A>G - IntronicSNV - 18/22 1
6-39326782-G-A c.2082+1389C>T - IntronicSNV - 18/22 1
6-39326782-G-T c.2082+1389C>A - IntronicSNV - 18/22 1
6-39326860-C-T c.2082+1311G>A - IntronicSNV - 18/22 1
6-39326929-A-G c.2082+1242T>C - IntronicSNV - 18/22 1
6-39326929-A-T c.2082+1242T>A - IntronicSNV - 18/22 1
6-39327350-G-A c.2082+821C>T - IntronicSNV - 18/22 1
6-39327708-A-G c.2082+463T>C - IntronicSNV - 18/22 1
6-39328169-A-T c.2082+2T>A - IntronicSNV - 18/22 1
6-39328173-G-T c.2080C>A p.Q694K Missense 18/23 - 1
6-39328176-G-A c.2077C>T p.L693= Synonymous 18/23 - 1
6-39328182-T-C c.2071A>G p.T691A Missense 18/23 - 1
6-39328182-T-G c.2071A>C p.T691P Missense 18/23 - 1
6-39328184-G-A c.2069C>T p.A690V Missense 18/23 - 4
6-39328185-C-T c.2068G>A p.A690T Missense 18/23 - 1
6-39328195-C-T c.2058G>A p.W686* Nonsense 18/23 - 1
6-39328196-C-A c.2057G>T p.W686L Missense 18/23 - 1
6-39328196-C-T c.2057G>A p.W686* Nonsense 18/23 - 1
6-39328201-G-A c.2052C>T p.V684= Synonymous 18/23 - 1
6-39328204-T-C c.2049A>G p.E683= Synonymous 18/23 - 1
6-39328206-C-T c.2047G>A p.E683K Missense 18/23 - 2
6-39328212-C-T c.2041G>A p.E681K Missense 18/23 - 3
6-39328216-C-T c.2037G>A p.Q679= Synonymous 18/23 - 4
6-39328218-G-A c.2035C>T p.Q679* Nonsense 18/23 - 2
6-39328220-TAGCTTCACCTTGGCTTTGTCCATGAGCAG-T c.2005_2033del p.L669Tfs*5 Frameshift 18/23 - 1
6-39328221-G-A c.2032C>T p.L678= Synonymous 18/23 - 4
6-39328223-T-A c.2030A>T p.K677M Missense 18/23 - 1
6-39328229-T-C c.2024A>G p.K675R Missense 18/23 - 1
6-39328236-T-C c.2017A>G p.K673E Missense 18/23 - 1
6-39328240-C-T c.2013G>A p.M671I Missense 18/23 - 1
6-39328251-G-A c.2002C>T p.Q668* Nonsense 18/23 - 1
6-39328252-C-T c.2001G>A p.L667= Synonymous 18/23 - 1
6-39328254-A-G c.1999T>C p.L667= Synonymous 18/23 - 1
6-39328261-G-A c.1992C>T p.I664= Synonymous 18/23 - 4
6-39328261-G-T c.1992C>A p.I664= Synonymous 18/23 - 1
6-39328271-T-G c.1982A>C p.K661T Missense 18/23 - 1
6-39328273-C-T c.1980G>A p.L660= Synonymous 18/23 - 1
6-39328278-C-A c.1975G>T p.A659S Missense 18/23 - 4
6-39328284-G-A c.1969C>T p.L657= Synonymous 18/23 - 2
6-39328285-G-A c.1968C>T p.R656= Synonymous 18/23 - 1
6-39328286-C-T c.1967G>A p.R656H Missense 18/23 - 2
6-39328287-G-A c.1966C>T p.R656C Missense 18/23 - 2
6-39328296-T-A c.1957A>T p.M653L Missense 18/23 - 2
6-39328296-T-C c.1957A>G p.M653V Missense 18/23 - 3
6-39328296-T-G c.1957A>C p.M653L Missense 18/23 - 1
6-39328450-C-T c.1947-144G>A - IntronicSNV - 17/22 4
6-39328500-C-T c.1947-194G>A - IntronicSNV - 17/22 1
6-39328811-A-G c.1947-505T>C - IntronicSNV - 17/22 1
6-39328950-G-A c.1947-644C>T - IntronicSNV - 17/22 1
6-39328950-G-C c.1947-644C>G - IntronicSNV - 17/22 1
6-39329163-G-A c.1947-857C>T - IntronicSNV - 17/22 1
6-39329552-C-G c.1946+658G>C - IntronicSNV - 17/22 1
6-39329552-C-T c.1946+658G>A - IntronicSNV - 17/22 1
6-39329561-G-C c.1946+649C>G - IntronicSNV - 17/22 1
6-39329920-C-G c.1946+290G>C - IntronicSNV - 17/22 1
6-39329920-C-T c.1946+290G>A - IntronicSNV - 17/22 2
6-39330135-C-T c.1946+75G>A - IntronicSNV - 17/22 5
6-39330180-C-G c.1946+30G>C - IntronicSNV - 17/22 2
6-39330180-C-T c.1946+30G>A - IntronicSNV - 17/22 4
6-39330212-T-C c.1944A>G p.R648= Synonymous 17/23 - 1
6-39330214-T-G c.1942A>C p.R648= Synonymous 17/23 - 1
6-39330215-C-A c.1941G>T p.K647N Missense 17/23 - 1
6-39330215-C-G c.1941G>C p.K647N Missense 17/23 - 1
6-39330216-T-A c.1940A>T p.K647M Missense 17/23 - 2
6-39330232-G-GT c.1923dup p.Q642Tfs*10 Frameshift 17/23 - 1
6-39330233-TG-AT c.1922_1923delinsAT p.S641Y Missense 17/23 - 1
6-39330237-C-A c.1919G>T p.R640L Missense 17/23 - 1
6-39330237-C-T c.1919G>A p.R640Q Missense 17/23 - 1
6-39330238-G-A c.1918C>T p.R640* Nonsense 17/23 - 1
6-39330242-C-A c.1914G>T p.K638N Missense 17/23 - 6
6-39330242-C-G c.1914G>C p.K638N Missense 17/23 - 4
6-39330245-C-G c.1911G>C p.E637D Missense 17/23 - 1
6-39330246-T-G c.1910A>C p.E637A Missense 17/23 - 2
6-39330250-C-G c.1906G>C p.E636Q Missense 17/23 - 1
6-39330257-G-C c.1899C>G p.D633E Missense 17/23 - 4
6-39330257-G-T c.1899C>A p.D633E Missense 17/23 - 1
6-39330263-C-A c.1893G>T p.M631I Missense 17/23 - 1
6-39330263-C-G c.1893G>C p.M631I Missense 17/23 - 1
6-39330263-C-T c.1893G>A p.M631I Missense 17/23 - 1
6-39330271-G-A c.1885C>T p.P629S Missense 17/23 - 4
6-39330274-C-T c.1882G>A p.V628M Missense 17/23 - 1
6-39330276-G-A c.1880C>T p.A627V Missense 17/23 - 1
6-39330286-C-T c.1870G>A p.E624K Missense 17/23 - 3
6-39330287-C-A c.1869G>T p.S623= Synonymous 17/23 - 1
6-39330287-C-T c.1869G>A p.S623= Synonymous 17/23 - 1
6-39330288-G-A c.1868C>T p.S623L Missense 17/23 - 4
6-39330294-C-T c.1862G>A p.G621E Missense 17/23 - 6
6-39330881-T-C c.1862-587A>G - IntronicSNV - 16/22 1
6-39330966-G-A c.1862-672C>T - IntronicSNV - 16/22 1
6-39331508-G-A c.1862-1214C>T - IntronicSNV - 16/22 2
6-39331740-C-T c.1862-1446G>A - IntronicSNV - 16/22 1
6-39332161-T-C c.1862-1867A>G - IntronicSNV - 16/22 1
6-39332177-G-C c.1862-1883C>G - IntronicSNV - 16/22 1
6-39332187-G-A c.1862-1893C>T - IntronicSNV - 16/22 1
6-39332567-T-C c.1862-2273A>G - IntronicSNV - 16/22 1
6-39333023-C-A c.1862-2729G>T - IntronicSNV - 16/22 1
6-39333304-G-T c.1862-3010C>A - IntronicSNV - 16/22 1
6-39333337-T-A c.1862-3043A>T - IntronicSNV - 16/22 2
6-39333337-T-C c.1862-3043A>G - IntronicSNV - 16/22 2
6-39333788-C-T c.1862-3494G>A - IntronicSNV - 16/22 1
6-39333807-T-G c.1862-3513A>C - IntronicSNV - 16/22 1
6-39333964-T-C c.1862-3670A>G - IntronicSNV - 16/22 1
6-39333977-T-A c.1862-3683A>T - IntronicSNV - 16/22 1
6-39333977-T-C c.1862-3683A>G - IntronicSNV - 16/22 1
6-39334606-A-T c.1862-4312T>A - IntronicSNV - 16/22 1
6-39335203-G-A c.1862-4909C>T - IntronicSNV - 16/22 1
6-39335203-G-C c.1862-4909C>G - IntronicSNV - 16/22 1
6-39335544-C-T c.1862-5250G>A - IntronicSNV - 16/22 1
6-39335924-A-G c.1862-5630T>C - IntronicSNV - 16/22 1
6-39335924-A-T c.1862-5630T>A - IntronicSNV - 16/22 1
6-39335960-C-T c.1862-5666G>A - IntronicSNV - 16/22 1
6-39336402-C-A c.1862-6108G>T - IntronicSNV - 16/22 1
6-39336402-C-T c.1862-6108G>A - IntronicSNV - 16/22 1
6-39336859-A-T c.1862-6565T>A - IntronicSNV - 16/22 1
6-39336971-T-C c.1862-6677A>G - IntronicSNV - 16/22 1
6-39337041-G-A c.1862-6747C>T - IntronicSNV - 16/22 1
6-39337041-G-C c.1862-6747C>G - IntronicSNV - 16/22 1
6-39337107-C-A c.1862-6813G>T - IntronicSNV - 16/22 1
6-39337107-C-G c.1862-6813G>C - IntronicSNV - 16/22 1
6-39337107-C-T c.1862-6813G>A - IntronicSNV - 16/22 1
6-39337384-A-T c.1862-7090T>A - IntronicSNV - 16/22 1
6-39337523-A-G c.1862-7229T>C - IntronicSNV - 16/22 1
6-39337627-C-T c.1862-7333G>A - IntronicSNV - 16/22 1
6-39338337-G-A c.1862-8043C>T - IntronicSNV - 16/22 1
6-39338435-A-G c.1862-8141T>C - IntronicSNV - 16/22 2
6-39338964-C-A c.1862-8670G>T - IntronicSNV - 16/22 1
6-39338964-C-T c.1862-8670G>A - IntronicSNV - 16/22 1
6-39338990-C-G c.1862-8696G>C - IntronicSNV - 16/22 2
6-39339013-C-T c.1862-8719G>A - IntronicSNV - 16/22 1
6-39339014-G-A c.1862-8720C>T - IntronicSNV - 16/22 1
6-39339014-G-T c.1862-8720C>A - IntronicSNV - 16/22 1
6-39339105-T-C c.1862-8811A>G - IntronicSNV - 16/22 1
6-39339561-G-A c.1862-9267C>T - IntronicSNV - 16/22 1
6-39339566-A-G c.1862-9272T>C - IntronicSNV - 16/22 1
6-39339891-T-A c.1862-9597A>T - IntronicSNV - 16/22 1
6-39339891-T-C c.1862-9597A>G - IntronicSNV - 16/22 1
6-39340210-T-C c.1862-9916A>G - IntronicSNV - 16/22 1
6-39340367-A-G c.1862-10073T>C - IntronicSNV - 16/22 1
6-39340396-G-T c.1862-10102C>A - IntronicSNV - 16/22 1
6-39340498-C-G c.1862-10204G>C - IntronicSNV - 16/22 1
6-39340812-C-A c.1862-10518G>T - IntronicSNV - 16/22 1
6-39340812-C-T c.1862-10518G>A - IntronicSNV - 16/22 1
6-39341091-A-G c.1862-10797T>C - IntronicSNV - 16/22 1
6-39341091-A-T c.1862-10797T>A - IntronicSNV - 16/22 1
6-39341407-C-A c.1862-11113G>T - IntronicSNV - 16/22 1
6-39341407-C-T c.1862-11113G>A - IntronicSNV - 16/22 1
6-39341498-G-A c.1862-11204C>T - IntronicSNV - 16/22 1
6-39341507-C-A c.1862-11213G>T - IntronicSNV - 16/22 1
6-39341592-T-C c.1862-11298A>G - IntronicSNV - 16/22 1
6-39341792-G-A c.1862-11498C>T - IntronicSNV - 16/22 1
6-39341849-C-T c.1861+11549G>A - IntronicSNV - 16/22 1
6-39341973-C-G c.1861+11425G>C - IntronicSNV - 16/22 1
6-39342083-A-C c.1861+11315T>G - IntronicSNV - 16/22 1
6-39342083-A-G c.1861+11315T>C - IntronicSNV - 16/22 1
6-39342344-C-T c.1861+11054G>A - IntronicSNV - 16/22 1
6-39342395-A-G c.1861+11003T>C - IntronicSNV - 16/22 1
6-39343354-C-G c.1861+10044G>C - IntronicSNV - 16/22 1
6-39343452-C-G c.1861+9946G>C - IntronicSNV - 16/22 1
6-39343691-C-T c.1861+9707G>A - IntronicSNV - 16/22 1
6-39343781-A-G c.1861+9617T>C - IntronicSNV - 16/22 1
6-39344073-C-T c.1861+9325G>A - IntronicSNV - 16/22 1
6-39344227-C-T c.1861+9171G>A - IntronicSNV - 16/22 1
6-39344351-T-C c.1861+9047A>G - IntronicSNV - 16/22 1
6-39344491-G-A c.1861+8907C>T - IntronicSNV - 16/22 1
6-39344554-C-T c.1861+8844G>A - IntronicSNV - 16/22 1
6-39344590-T-A c.1861+8808A>T - IntronicSNV - 16/22 1
6-39344590-T-C c.1861+8808A>G - IntronicSNV - 16/22 1
6-39344710-C-G c.1861+8688G>C - IntronicSNV - 16/22 1
6-39344768-G-A c.1861+8630C>T - IntronicSNV - 16/22 1
6-39344794-C-T c.1861+8604G>A - IntronicSNV - 16/22 1
6-39344978-C-G c.1861+8420G>C - IntronicSNV - 16/22 1
6-39344978-C-T c.1861+8420G>A - IntronicSNV - 16/22 1
6-39345118-C-G c.1861+8280G>C - IntronicSNV - 16/22 1
6-39345118-C-T c.1861+8280G>A - IntronicSNV - 16/22 1
6-39345125-T-A c.1861+8273A>T - IntronicSNV - 16/22 1
6-39345125-T-C c.1861+8273A>G - IntronicSNV - 16/22 1
6-39345527-T-C c.1861+7871A>G - IntronicSNV - 16/22 1
6-39345527-T-G c.1861+7871A>C - IntronicSNV - 16/22 1
6-39345689-T-A c.1861+7709A>T - IntronicSNV - 16/22 1
6-39345689-T-C c.1861+7709A>G - IntronicSNV - 16/22 1
6-39345959-C-T c.1861+7439G>A - IntronicSNV - 16/22 1
6-39346137-G-A c.1861+7261C>T - IntronicSNV - 16/22 1
6-39346137-G-C c.1861+7261C>G - IntronicSNV - 16/22 1
6-39346173-C-T c.1861+7225G>A - IntronicSNV - 16/22 1
6-39346210-T-C c.1861+7188A>G - IntronicSNV - 16/22 1
6-39346574-G-T c.1861+6824C>A - IntronicSNV - 16/22 1
6-39346876-T-C c.1861+6522A>G - IntronicSNV - 16/22 1
6-39346982-G-C c.1861+6416C>G - IntronicSNV - 16/22 1
6-39347243-T-G c.1861+6155A>C - IntronicSNV - 16/22 1
6-39347488-C-A c.1861+5910G>T - IntronicSNV - 16/22 1
6-39347601-C-A c.1861+5797G>T - IntronicSNV - 16/22 1
6-39347702-G-T c.1861+5696C>A - IntronicSNV - 16/22 1
6-39347805-A-T c.1861+5593T>A - IntronicSNV - 16/22 1
6-39348333-A-G c.1861+5065T>C - IntronicSNV - 16/22 1
6-39348499-A-G c.1861+4899T>C - IntronicSNV - 16/22 1
6-39348539-C-A c.1861+4859G>T - IntronicSNV - 16/22 1
6-39348539-C-T c.1861+4859G>A - IntronicSNV - 16/22 1
6-39348666-T-A c.1861+4732A>T - IntronicSNV - 16/22 1
6-39348691-T-A c.1861+4707A>T - IntronicSNV - 16/22 1
6-39348691-T-C c.1861+4707A>G - IntronicSNV - 16/22 1
6-39348801-C-A c.1861+4597G>T - IntronicSNV - 16/22 2
6-39349052-T-C c.1861+4346A>G - IntronicSNV - 16/22 1
6-39349059-A-G c.1861+4339T>C - IntronicSNV - 16/22 1
6-39349094-T-C c.1861+4304A>G - IntronicSNV - 16/22 1
6-39349179-A-G c.1861+4219T>C - IntronicSNV - 16/22 1
6-39349365-G-A c.1861+4033C>T - IntronicSNV - 16/22 1
6-39349377-G-A c.1861+4021C>T - IntronicSNV - 16/22 1
6-39349401-A-G c.1861+3997T>C - IntronicSNV - 16/22 1
6-39349417-C-T c.1861+3981G>A - IntronicSNV - 16/22 1
6-39349530-G-A c.1861+3868C>T - IntronicSNV - 16/22 2
6-39349555-T-C c.1861+3843A>G - IntronicSNV - 16/22 1
6-39349694-C-T c.1861+3704G>A - IntronicSNV - 16/22 1
6-39350054-C-A c.1861+3344G>T - IntronicSNV - 16/22 1
6-39350169-C-A c.1861+3229G>T - IntronicSNV - 16/22 1
6-39350661-G-A c.1861+2737C>T - IntronicSNV - 16/22 1
6-39350661-G-T c.1861+2737C>A - IntronicSNV - 16/22 1
6-39350895-G-A c.1861+2503C>T - IntronicSNV - 16/22 1
6-39350895-G-T c.1861+2503C>A - IntronicSNV - 16/22 1
6-39351131-A-G c.1861+2267T>C - IntronicSNV - 16/22 1
6-39351133-G-A c.1861+2265C>T - IntronicSNV - 16/22 1
6-39351373-T-A c.1861+2025A>T - IntronicSNV - 16/22 1
6-39351373-T-C c.1861+2025A>G - IntronicSNV - 16/22 1
6-39351631-T-C c.1861+1767A>G - IntronicSNV - 16/22 1
6-39351795-C-T c.1861+1603G>A - IntronicSNV - 16/22 1
6-39352298-G-A c.1861+1100C>T - IntronicSNV - 16/22 1
6-39352568-A-G c.1861+830T>C - IntronicSNV - 16/22 1
6-39352889-C-G c.1861+509G>C - IntronicSNV - 16/22 1
6-39352889-C-T c.1861+509G>A - IntronicSNV - 16/22 1
6-39353038-A-G c.1861+360T>C - IntronicSNV - 16/22 1
6-39353110-T-C c.1861+288A>G - IntronicSNV - 16/22 1
6-39353295-A-G c.1861+103T>C - IntronicSNV - 16/22 2
6-39353296-G-A c.1861+102C>T - IntronicSNV - 16/22 1
6-39353314-A-G c.1861+84T>C - IntronicSNV - 16/22 5
6-39353403-G-T c.1856C>A p.A619D Missense 16/23 - 1
6-39353406-A-C c.1853T>G p.V618G Missense 16/23 - 1
6-39353410-G-C c.1849C>G p.Q617E Missense 16/23 - 1
6-39353411-C-A c.1848G>T p.Q616H Missense 16/23 - 1
6-39353413-G-A c.1846C>T p.Q616* Nonsense 16/23 - 1
6-39353414-T-C c.1845A>G p.I615M Missense 16/23 - 3
6-39353421-C-T c.1838G>A p.R613Q Missense 16/23 - 5
6-39353422-G-A c.1837C>T p.R613W Missense 16/23 - 5
6-39353425-G-A c.1834C>T p.Q612* Nonsense 16/23 - 1
6-39353428-T-C c.1831A>G p.T611A Missense 16/23 - 1
6-39353431-T-C c.1828A>G p.I610V Missense 16/23 - 2
6-39353437-C-T c.1822G>A p.E608K Missense 16/23 - 1
6-39353441-C-A c.1818G>T p.L606= Synonymous 16/23 - 1
6-39353441-C-G c.1818G>C p.L606= Synonymous 16/23 - 1
6-39353441-C-T c.1818G>A p.L606= Synonymous 16/23 - 1
6-39353443-G-A c.1816C>T p.L606= Synonymous 16/23 - 1
6-39353444-G-A c.1815C>T p.H605= Synonymous 16/23 - 1
6-39353447-AC-CT c.1811_1812delinsAG p.G604E Missense 16/23 - 1
6-39353668-C-T c.1811-220G>A - IntronicSNV - 15/22 1
6-39353824-A-T c.1811-376T>A - IntronicSNV - 15/22 1
6-39353978-T-C c.1811-530A>G - IntronicSNV - 15/22 1
6-39354375-G-A c.1811-927C>T - IntronicSNV - 15/22 1
6-39354522-C-T c.1811-1074G>A - IntronicSNV - 15/22 1
6-39355090-T-C c.1811-1642A>G - IntronicSNV - 15/22 1
6-39355386-A-G c.1811-1938T>C - IntronicSNV - 15/22 1
6-39355479-A-G c.1811-2031T>C - IntronicSNV - 15/22 1
6-39355964-C-T c.1811-2516G>A - IntronicSNV - 15/22 1
6-39356003-A-G c.1811-2555T>C - IntronicSNV - 15/22 1
6-39356014-G-A c.1811-2566C>T - IntronicSNV - 15/22 1
6-39356014-G-C c.1811-2566C>G - IntronicSNV - 15/22 1
6-39356135-T-C c.1811-2687A>G - IntronicSNV - 15/22 1
6-39356161-C-T c.1811-2713G>A - IntronicSNV - 15/22 1
6-39356240-G-A c.1811-2792C>T - IntronicSNV - 15/22 1
6-39356438-T-C c.1811-2990A>G - IntronicSNV - 15/22 1
6-39356512-C-T c.1811-3064G>A - IntronicSNV - 15/22 1
6-39356636-T-C c.1811-3188A>G - IntronicSNV - 15/22 1
6-39357069-G-GTGA c.1811-3624_1811-3622dup - IntronicInsertion - 15/22 1
6-39357111-C-G c.1811-3663G>C - IntronicSNV - 15/22 1
6-39357111-C-T c.1811-3663G>A - IntronicSNV - 15/22 1
6-39357257-A-G c.1811-3809T>C - IntronicSNV - 15/22 1
6-39357374-C-G c.1811-3926G>C - IntronicSNV - 15/22 1
6-39357675-C-T c.1811-4227G>A - IntronicSNV - 15/22 1
6-39357723-C-T c.1811-4275G>A - IntronicSNV - 15/22 1
6-39357747-C-A c.1811-4299G>T - IntronicSNV - 15/22 1
6-39357747-C-T c.1811-4299G>A - IntronicSNV - 15/22 1
6-39357934-T-G c.1811-4486A>C - IntronicSNV - 15/22 1
6-39358111-C-A c.1811-4663G>T - IntronicSNV - 15/22 1
6-39358111-C-T c.1811-4663G>A - IntronicSNV - 15/22 1
6-39358231-C-T c.1811-4783G>A - IntronicSNV - 15/22 1
6-39358313-C-A c.1811-4865G>T - IntronicSNV - 15/22 1
6-39358313-C-T c.1811-4865G>A - IntronicSNV - 15/22 1
6-39358387-G-C c.1811-4939C>G - IntronicSNV - 15/22 1
6-39358440-A-G c.1811-4992T>C - IntronicSNV - 15/22 1
6-39358451-G-T c.1811-5003C>A - IntronicSNV - 15/22 1
6-39358494-C-A c.1811-5046G>T - IntronicSNV - 15/22 1
6-39358573-C-T c.1811-5125G>A - IntronicSNV - 15/22 1
6-39358588-A-G c.1811-5140T>C - IntronicSNV - 15/22 1
6-39358596-C-T c.1811-5148G>A - IntronicSNV - 15/22 1
6-39358635-G-A c.1811-5187C>T - IntronicSNV - 15/22 1
6-39358892-G-C c.1811-5444C>G - IntronicSNV - 15/22 1
6-39358926-A-G c.1811-5478T>C - IntronicSNV - 15/22 1
6-39359065-G-A c.1811-5617C>T - IntronicSNV - 15/22 1
6-39359090-T-G c.1811-5642A>C - IntronicSNV - 15/22 1
6-39359439-T-C c.1811-5991A>G - IntronicSNV - 15/22 1
6-39360008-C-G c.1811-6560G>C - IntronicSNV - 15/22 1
6-39360400-A-C c.1811-6952T>G - IntronicSNV - 15/22 1
6-39360970-A-G c.1811-7522T>C - IntronicSNV - 15/22 1
6-39361154-C-T c.1811-7706G>A - IntronicSNV - 15/22 1
6-39361254-G-A c.1811-7806C>T - IntronicSNV - 15/22 1
6-39361475-G-A c.1811-8027C>T - IntronicSNV - 15/22 1
6-39361475-G-C c.1811-8027C>G - IntronicSNV - 15/22 1
6-39361506-G-A c.1811-8058C>T - IntronicSNV - 15/22 1
6-39361854-C-A c.1811-8406G>T - IntronicSNV - 15/22 3
6-39361975-T-G c.1811-8527A>C - IntronicSNV - 15/22 1
6-39362182-A-G c.1811-8734T>C - IntronicSNV - 15/22 1
6-39362571-A-G c.1811-9123T>C - IntronicSNV - 15/22 1
6-39362715-C-T c.1811-9267G>A - IntronicSNV - 15/22 1
6-39362772-A-T c.1811-9324T>A - IntronicSNV - 15/22 1
6-39362831-C-T c.1811-9383G>A - IntronicSNV - 15/22 1
6-39363070-T-C c.1811-9622A>G - IntronicSNV - 15/22 1
6-39363366-G-A c.1811-9918C>T - IntronicSNV - 15/22 1
6-39363489-T-G c.1811-10041A>C - IntronicSNV - 15/22 1
6-39364028-T-C c.1811-10580A>G - IntronicSNV - 15/22 1
6-39364514-C-T c.1811-11066G>A - IntronicSNV - 15/22 1
6-39365130-G-A c.1811-11682C>T - IntronicSNV - 15/22 1
6-39365301-T-C c.1811-11853A>G - IntronicSNV - 15/22 1
6-39365370-C-A c.1811-11922G>T - IntronicSNV - 15/22 1
6-39365370-C-G c.1811-11922G>C - IntronicSNV - 15/22 1
6-39365370-C-T c.1811-11922G>A - IntronicSNV - 15/22 1
6-39365546-C-T c.1811-12098G>A - IntronicSNV - 15/22 1
6-39365641-T-C c.1811-12193A>G - IntronicSNV - 15/22 1
6-39365977-G-A c.1811-12529C>T - IntronicSNV - 15/22 1
6-39365978-C-T c.1811-12530G>A - IntronicSNV - 15/22 1
6-39366115-T-A c.1811-12667A>T - IntronicSNV - 15/22 1
6-39366478-A-G c.1811-13030T>C - IntronicSNV - 15/22 1
6-39366876-C-G c.1811-13428G>C - IntronicSNV - 15/22 1
6-39366893-G-A c.1811-13445C>T - IntronicSNV - 15/22 1
6-39366893-G-T c.1811-13445C>A - IntronicSNV - 15/22 1
6-39367102-C-T c.1811-13654G>A - IntronicSNV - 15/22 1
6-39367455-T-A c.1811-14007A>T - IntronicSNV - 15/22 1
6-39367455-T-C c.1811-14007A>G - IntronicSNV - 15/22 1
6-39367715-C-T c.1811-14267G>A - IntronicSNV - 15/22 1
6-39367830-T-C c.1811-14382A>G - IntronicSNV - 15/22 1
6-39368038-A-G c.1811-14590T>C - IntronicSNV - 15/22 1
6-39368300-T-C c.1811-14852A>G - IntronicSNV - 15/22 1
6-39368378-G-A c.1811-14930C>T - IntronicSNV - 15/22 1
6-39368391-T-G c.1811-14943A>C - IntronicSNV - 15/22 1
6-39368601-T-C c.1811-15153A>G - IntronicSNV - 15/22 1
6-39368659-T-A c.1811-15211A>T - IntronicSNV - 15/22 1
6-39368659-T-C c.1811-15211A>G - IntronicSNV - 15/22 1
6-39368733-G-A c.1811-15285C>T - IntronicSNV - 15/22 1
6-39369035-T-G c.1811-15587A>C - IntronicSNV - 15/22 1
6-39369194-A-C c.1811-15746T>G - IntronicSNV - 15/22 1
6-39369399-G-C c.1811-15951C>G - IntronicSNV - 15/22 1
6-39369568-T-G c.1811-16120A>C - IntronicSNV - 15/22 1
6-39370149-T-C c.1811-16701A>G - IntronicSNV - 15/22 1
6-39370170-G-A c.1811-16722C>T - IntronicSNV - 15/22 1
6-39370257-C-T c.1811-16809G>A - IntronicSNV - 15/22 1
6-39370670-G-A c.1810+17054C>T - IntronicSNV - 15/22 1
6-39371604-C-T c.1810+16120G>A - IntronicSNV - 15/22 1
6-39372353-C-T c.1810+15371G>A - IntronicSNV - 15/22 1
6-39372612-G-T c.1810+15112C>A - IntronicSNV - 15/22 1
6-39372729-G-A c.1810+14995C>T - IntronicSNV - 15/22 1
6-39372853-G-A c.1810+14871C>T - IntronicSNV - 15/22 1
6-39372903-A-G c.1810+14821T>C - IntronicSNV - 15/22 1
6-39372983-T-C c.1810+14741A>G - IntronicSNV - 15/22 1
6-39373350-T-A c.1810+14374A>T - IntronicSNV - 15/22 1
6-39373350-T-C c.1810+14374A>G - IntronicSNV - 15/22 1
6-39373658-G-A c.1810+14066C>T - IntronicSNV - 15/22 1
6-39374039-C-T c.1810+13685G>A - IntronicSNV - 15/22 1
6-39374373-C-T c.1810+13351G>A - IntronicSNV - 15/22 1
6-39374705-T-A c.1810+13019A>T - IntronicSNV - 15/22 1
6-39374704-CT-C c.1810+13019del - IntronicDeletion - 15/22 1
6-39374773-C-T c.1810+12951G>A - IntronicSNV - 15/22 1
6-39374899-T-G c.1810+12825A>C - IntronicSNV - 15/22 1
6-39374900-T-G c.1810+12824A>C - IntronicSNV - 15/22 1
6-39374898-GT-G c.1810+12825del - IntronicDeletion - 15/22 1
6-39375235-G-A c.1810+12489C>T - IntronicSNV - 15/22 1
6-39375951-G-A c.1810+11773C>T - IntronicSNV - 15/22 1
6-39376001-T-A c.1810+11723A>T - IntronicSNV - 15/22 1
6-39376190-A-G c.1810+11534T>C - IntronicSNV - 15/22 1
6-39377903-G-A c.1810+9821C>T - IntronicSNV - 15/22 1
6-39379412-G-A c.1810+8312C>T - IntronicSNV - 15/22 1
6-39379854-C-T c.1810+7870G>A - IntronicSNV - 15/22 1
6-39380571-C-A c.1810+7153G>T - IntronicSNV - 15/22 1
6-39380585-C-A c.1810+7139G>T - IntronicSNV - 15/22 1
6-39380585-C-T c.1810+7139G>A - IntronicSNV - 15/22 1
6-39380634-G-A c.1810+7090C>T - IntronicSNV - 15/22 1
6-39380634-G-C c.1810+7090C>G - IntronicSNV - 15/22 1
6-39380634-G-T c.1810+7090C>A - IntronicSNV - 15/22 1
6-39380761-G-A c.1810+6963C>T - IntronicSNV - 15/22 1
6-39381264-T-C c.1810+6460A>G - IntronicSNV - 15/22 1
6-39381390-G-A c.1810+6334C>T - IntronicSNV - 15/22 1
6-39381708-A-T c.1810+6016T>A - IntronicSNV - 15/22 1
6-39382141-G-A c.1810+5583C>T - IntronicSNV - 15/22 1
6-39383104-C-A c.1810+4620G>T - IntronicSNV - 15/22 1
6-39383104-C-G c.1810+4620G>C - IntronicSNV - 15/22 1
6-39383115-G-A c.1810+4609C>T - IntronicSNV - 15/22 1
6-39383533-T-G c.1810+4191A>C - IntronicSNV - 15/22 1
6-39383581-G-A c.1810+4143C>T - IntronicSNV - 15/22 1
6-39383739-T-A c.1810+3985A>T - IntronicSNV - 15/22 1
6-39384111-G-A c.1810+3613C>T - IntronicSNV - 15/22 1
6-39384126-A-G c.1810+3598T>C - IntronicSNV - 15/22 1
6-39384189-C-T c.1810+3535G>A - IntronicSNV - 15/22 1
6-39384337-A-G c.1810+3387T>C - IntronicSNV - 15/22 1
6-39384544-T-C c.1810+3180A>G - IntronicSNV - 15/22 1
6-39384739-G-C c.1810+2985C>G - IntronicSNV - 15/22 1
6-39384739-G-T c.1810+2985C>A - IntronicSNV - 15/22 1
6-39384858-A-C c.1810+2866T>G - IntronicSNV - 15/22 1
6-39384933-G-A c.1810+2791C>T - IntronicSNV - 15/22 1
6-39385128-T-C c.1810+2596A>G - IntronicSNV - 15/22 1
6-39385182-A-G c.1810+2542T>C - IntronicSNV - 15/22 1
6-39385308-A-C c.1810+2416T>G - IntronicSNV - 15/22 1
6-39385308-A-G c.1810+2416T>C - IntronicSNV - 15/22 2
6-39385777-T-TC c.1810+1946dup - IntronicInsertion - 15/22 1
6-39386159-T-C c.1810+1565A>G - IntronicSNV - 15/22 1
6-39386332-G-A c.1810+1392C>T - IntronicSNV - 15/22 1
6-39386399-A-G c.1810+1325T>C - IntronicSNV - 15/22 1
6-39386607-A-G c.1810+1117T>C - IntronicSNV - 15/22 1
6-39386946-G-A c.1810+778C>T - IntronicSNV - 15/22 1
6-39387198-A-C c.1810+526T>G - IntronicSNV - 15/22 1
6-39387210-G-T c.1810+514C>A - IntronicSNV - 15/22 1
6-39387303-G-C c.1810+421C>G - IntronicSNV - 15/22 1
6-39387320-C-T c.1810+404G>A - IntronicSNV - 15/22 1
6-39387344-C-G c.1810+380G>C - IntronicSNV - 15/22 1
6-39387344-C-T c.1810+380G>A - IntronicSNV - 15/22 2
6-39387674-C-T c.1810+50G>A - IntronicSNV - 15/22 1
6-39387722-A-T c.1810+2T>A - IntronicSNV - 15/22 2
6-39387729-T-C c.1805A>G p.K602R Missense 15/23 - 1
6-39387731-ACTT-A c.1800_1802del p.R600del InFrameDeletion 15/23 - 1
6-39387742-C-T c.1792G>A p.E598K Missense 15/23 - 3
6-39387745-T-TA c.1788_1789insT p.N597* Nonsense 15/23 - 1
6-39387749-A-G c.1785T>C p.S595= Synonymous 15/23 - 1
6-39387750-C-G c.1784G>C p.S595T Missense 15/23 - 3
6-39387750-CT-AG c.1783_1784inv p.S595L Missense 15/23 - 1
6-39387756-C-G c.1778G>C p.G593A Missense 15/23 - 1
6-39387757-C-A c.1777G>T p.G593* Nonsense 15/23 - 1
6-39387758-C-CA c.1775dup p.E594Rfs*5 Frameshift 15/23 - 1
6-39387759-AG-A c.1774del p.L592Wfs*5 Frameshift 15/23 - 1
6-39387764-C-A c.1770G>T p.K590N Missense 15/23 - 1
6-39387764-C-G c.1770G>C p.K590N Missense 15/23 - 1
6-39387767-G-T c.1767C>A p.A589= Synonymous 15/23 - 1
6-39387773-A-C c.1761T>G p.S587= Synonymous 15/23 - 1
6-39387773-A-G c.1761T>C p.S587= Synonymous 15/23 - 1
6-39387773-A-T c.1761T>A p.S587= Synonymous 15/23 - 3
6-39387775-A-C c.1759T>G p.S587A Missense 15/23 - 3
6-39387777-A-C c.1757T>G p.F586C Missense 15/23 - 3
6-39388082-G-C c.1755-303C>G - IntronicSNV - 14/22 1
6-39388265-C-T c.1755-486G>A - IntronicSNV - 14/22 1
6-39388301-G-A c.1755-522C>T - IntronicSNV - 14/22 1
6-39388301-G-C c.1755-522C>G - IntronicSNV - 14/22 1
6-39388887-C-T c.1755-1108G>A - IntronicSNV - 14/22 1
6-39389141-C-T c.1755-1362G>A - IntronicSNV - 14/22 1
6-39389452-T-G c.1755-1673A>C - IntronicSNV - 14/22 1
6-39389903-C-A c.1755-2124G>T - IntronicSNV - 14/22 1
6-39389992-A-G c.1755-2213T>C - IntronicSNV - 14/22 1
6-39390095-G-A c.1755-2316C>T - IntronicSNV - 14/22 1
6-39390436-C-G c.1755-2657G>C - IntronicSNV - 14/22 1
6-39390436-C-T c.1755-2657G>A - IntronicSNV - 14/22 1
6-39390467-C-G c.1755-2688G>C - IntronicSNV - 14/22 1
6-39390688-A-G c.1755-2909T>C - IntronicSNV - 14/22 1
6-39391022-G-A c.1755-3243C>T - IntronicSNV - 14/22 1
6-39391022-G-C c.1755-3243C>G - IntronicSNV - 14/22 1
6-39391392-C-T c.1755-3613G>A - IntronicSNV - 14/22 1
6-39391393-G-A c.1755-3614C>T - IntronicSNV - 14/22 1
6-39391393-G-T c.1755-3614C>A - IntronicSNV - 14/22 1
6-39391436-C-T c.1755-3657G>A - IntronicSNV - 14/22 1
6-39392009-T-C c.1755-4230A>G - IntronicSNV - 14/22 1
6-39392100-C-G c.1755-4321G>C - IntronicSNV - 14/22 1
6-39392105-C-A c.1755-4326G>T - IntronicSNV - 14/22 1
6-39392327-G-A c.1755-4548C>T - IntronicSNV - 14/22 1
6-39392339-G-A c.1755-4560C>T - IntronicSNV - 14/22 1
6-39392480-G-A c.1755-4701C>T - IntronicSNV - 14/22 1
6-39392718-T-A c.1755-4939A>T - IntronicSNV - 14/22 1
6-39394022-T-C c.1754+4807A>G - IntronicSNV - 14/22 1
6-39394198-G-C c.1754+4631C>G - IntronicSNV - 14/22 1
6-39394690-T-C c.1754+4139A>G - IntronicSNV - 14/22 1
6-39395049-G-A c.1754+3780C>T - IntronicSNV - 14/22 1
6-39395049-G-C c.1754+3780C>G - IntronicSNV - 14/22 1
6-39395631-A-G c.1754+3198T>C - IntronicSNV - 14/22 1
6-39396008-T-G c.1754+2821A>C - IntronicSNV - 14/22 1
6-39396084-T-C c.1754+2745A>G - IntronicSNV - 14/22 1
6-39396108-A-G c.1754+2721T>C - IntronicSNV - 14/22 1
6-39396537-A-C c.1754+2292T>G - IntronicSNV - 14/22 1
6-39397408-A-G c.1754+1421T>C - IntronicSNV - 14/22 1
6-39397408-A-T c.1754+1421T>A - IntronicSNV - 14/22 1
6-39397414-A-G c.1754+1415T>C - IntronicSNV - 14/22 1
6-39397414-A-T c.1754+1415T>A - IntronicSNV - 14/22 1
6-39397422-A-C c.1754+1407T>G - IntronicSNV - 14/22 1
6-39397423-T-A c.1754+1406A>T - IntronicSNV - 14/22 1
6-39397423-T-C c.1754+1406A>G - IntronicSNV - 14/22 1
6-39397423-T-G c.1754+1406A>C - IntronicSNV - 14/22 1
6-39397490-G-A c.1754+1339C>T - IntronicSNV - 14/22 1
6-39397490-G-C c.1754+1339C>G - IntronicSNV - 14/22 1
6-39397490-G-T c.1754+1339C>A - IntronicSNV - 14/22 1
6-39397494-C-A c.1754+1335G>T - IntronicSNV - 14/22 1
6-39397494-C-T c.1754+1335G>A - IntronicSNV - 14/22 1
6-39397501-A-G c.1754+1328T>C - IntronicSNV - 14/22 1
6-39397501-A-T c.1754+1328T>A - IntronicSNV - 14/22 1
6-39397541-A-G c.1754+1288T>C - IntronicSNV - 14/22 1
6-39397556-T-C c.1754+1273A>G - IntronicSNV - 14/22 1
6-39397556-T-G c.1754+1273A>C - IntronicSNV - 14/22 1
6-39398079-G-C c.1754+750C>G - IntronicSNV - 14/22 1
6-39398097-T-C c.1754+732A>G - IntronicSNV - 14/22 1
6-39398628-C-T c.1754+201G>A - IntronicSNV - 14/22 1
6-39398790-G-A c.1754+39C>T - IntronicSNV - 14/22 1
6-39398806-G-GC c.1754+22dup - IntronicInsertion - 14/22 1
6-39398833-G-T c.1750C>A p.Q584K Missense 14/23 - 1
6-39398838-A-G c.1745T>C p.L582P Missense 14/23 - 1
6-39398839-G-T c.1744C>A p.L582M Missense 14/23 - 4
6-39398840-A-G c.1743T>C p.I581= Synonymous 14/23 - 1
6-39398840-A-T c.1743T>A p.I581= Synonymous 14/23 - 2
6-39398849-G-A c.1734C>T p.N578= Synonymous 14/23 - 2
6-39398851-T-C c.1732A>G p.N578D Missense 14/23 - 1
6-39398851-T-G c.1732A>C p.N578H Missense 14/23 - 1
6-39398854-C-T c.1729G>A p.D577N Missense 14/23 - 2
6-39398854-C-CA c.1728dup p.D577* Nonsense 14/23 - 1
6-39398856-ATC-A c.1726_1727del p.D576* Frameshift 14/23 - 1
6-39398858-G-A c.1725C>T p.I575= Synonymous 14/23 - 2
6-39398858-G-T c.1725C>A p.I575= Synonymous 14/23 - 2
6-39398870-G-A c.1713C>T p.D571= Synonymous 14/23 - 1
6-39398872-C-T c.1711G>A p.D571N Missense 14/23 - 1
6-39398874-G-A c.1709C>T p.A570V Missense 14/23 - 1
6-39398875-C-A c.1708G>T p.A570S Missense 14/23 - 1
6-39398878-G-A c.1705C>T p.H569Y Missense 14/23 - 1
6-39398879-G-C c.1704C>G p.D568E Missense 14/23 - 1
6-39398879-G-T c.1704C>A p.D568E Missense 14/23 - 1
6-39398880-T-C c.1703A>G p.D568G Missense 14/23 - 1
6-39398891-G-C c.1692C>G p.I564M Missense 14/23 - 1
6-39398898-A-G c.1685T>C p.F562S Missense 14/23 - 1
6-39398905-C-T c.1678G>A p.E560K Missense 14/23 - 1
6-39398906-C-A c.1677G>T p.Q559H Missense 14/23 - 3
6-39398906-C-G c.1677G>C p.Q559H Missense 14/23 - 1
6-39398907-T-G c.1676A>C p.Q559P Missense 14/23 - 1
6-39398909-G-A c.1674C>T p.C558= Synonymous 14/23 - 1
6-39398913-C-T c.1670G>A p.G557E Missense 14/23 - 1
6-39398919-G-A c.1664C>T p.S555L Missense 14/23 - 1
6-39398924-T-A c.1659A>T p.E553D Missense 14/23 - 1
6-39398924-T-G c.1659A>C p.E553D Missense 14/23 - 1
6-39398926-C-T c.1657G>A p.E553K Missense 14/23 - 1
6-39398927-C-A c.1656G>T p.E552D Missense 14/23 - 1
6-39398927-C-G c.1656G>C p.E552D Missense 14/23 - 1
6-39398931-C-T c.1652G>A p.R551K Missense 14/23 - 10
6-39398933-C-A c.1650G>T p.M550I Missense 14/23 - 1
6-39398933-C-T c.1650G>A p.M550I Missense 14/23 - 1
6-39398937-C-T c.1646G>A p.G549E Missense 14/23 - 1
6-39399174-G-A c.1646-237C>T - IntronicSNV - 13/22 1
6-39399174-G-C c.1646-237C>G - IntronicSNV - 13/22 1
6-39399174-G-T c.1646-237C>A - IntronicSNV - 13/22 1
6-39399200-C-T c.1646-263G>A - IntronicSNV - 13/22 2
6-39399454-A-G c.1646-517T>C - IntronicSNV - 13/22 1
6-39399535-A-G c.1646-598T>C - IntronicSNV - 13/22 1
6-39399659-A-C c.1646-722T>G - IntronicSNV - 13/22 1
6-39399659-A-T c.1646-722T>A - IntronicSNV - 13/22 1
6-39399701-C-T c.1646-764G>A - IntronicSNV - 13/22 1
6-39399858-T-C c.1646-921A>G - IntronicSNV - 13/22 1
6-39400048-G-A c.1646-1111C>T - IntronicSNV - 13/22 1
6-39400156-C-T c.1646-1219G>A - IntronicSNV - 13/22 1
6-39400858-C-CAG c.1646-1922_1646-1921insCT - IntronicInsertion - 13/22 1
6-39400865-T-C c.1646-1928A>G - IntronicSNV - 13/22 1
6-39400877-T-G c.1646-1940A>C - IntronicSNV - 13/22 1
6-39400914-G-C c.1646-1977C>G - IntronicSNV - 13/22 1
6-39400914-G-T c.1646-1977C>A - IntronicSNV - 13/22 1
6-39400955-T-C c.1646-2018A>G - IntronicSNV - 13/22 1
6-39401015-C-T c.1646-2078G>A - IntronicSNV - 13/22 1
6-39401318-G-T c.1646-2381C>A - IntronicSNV - 13/22 1
6-39401383-G-A c.1646-2446C>T - IntronicSNV - 13/22 1
6-39401592-C-T c.1646-2655G>A - IntronicSNV - 13/22 1
6-39401745-G-A c.1646-2808C>T - IntronicSNV - 13/22 1
6-39402141-T-A c.1646-3204A>T - IntronicSNV - 13/22 1
6-39402230-C-T c.1646-3293G>A - IntronicSNV - 13/22 1
6-39402366-A-C c.1646-3429T>G - IntronicSNV - 13/22 1
6-39402751-A-G c.1646-3814T>C - IntronicSNV - 13/22 1
6-39402761-A-G c.1646-3824T>C - IntronicSNV - 13/22 1
6-39402768-T-C c.1646-3831A>G - IntronicSNV - 13/22 1
6-39402909-A-G c.1646-3972T>C - IntronicSNV - 13/22 2
6-39403011-T-G c.1646-4074A>C - IntronicSNV - 13/22 1
6-39403034-C-T c.1646-4097G>A - IntronicSNV - 13/22 1
6-39403693-T-C c.1646-4756A>G - IntronicSNV - 13/22 1
6-39403793-G-C c.1646-4856C>G - IntronicSNV - 13/22 1
6-39404052-A-T c.1646-5115T>A - IntronicSNV - 13/22 1
6-39404162-C-T c.1646-5225G>A - IntronicSNV - 13/22 1
6-39404514-C-T c.1646-5577G>A - IntronicSNV - 13/22 1
6-39404949-C-A c.1646-6012G>T - IntronicSNV - 13/22 1
6-39404950-C-T c.1646-6013G>A - IntronicSNV - 13/22 1
6-39405082-T-C c.1646-6145A>G - IntronicSNV - 13/22 1
6-39405237-G-T c.1646-6300C>A - IntronicSNV - 13/22 1
6-39405543-C-T c.1646-6606G>A - IntronicSNV - 13/22 1
6-39406161-A-T c.1646-7224T>A - IntronicSNV - 13/22 1
6-39406250-A-C c.1646-7313T>G - IntronicSNV - 13/22 1
6-39406459-A-G c.1646-7522T>C - IntronicSNV - 13/22 1
6-39406692-A-G c.1646-7755T>C - IntronicSNV - 13/22 1
6-39406953-T-C c.1646-8016A>G - IntronicSNV - 13/22 1
6-39406978-T-C c.1646-8041A>G - IntronicSNV - 13/22 1
6-39407387-G-A c.1646-8450C>T - IntronicSNV - 13/22 1
6-39407504-C-A c.1646-8567G>T - IntronicSNV - 13/22 1
6-39407545-C-T c.1646-8608G>A - IntronicSNV - 13/22 1
6-39407549-C-A c.1646-8612G>T - IntronicSNV - 13/22 1
6-39407549-C-T c.1646-8612G>A - IntronicSNV - 13/22 1
6-39407831-C-A c.1646-8894G>T - IntronicSNV - 13/22 1
6-39407831-C-T c.1646-8894G>A - IntronicSNV - 13/22 1
6-39407988-G-A c.1646-9051C>T - IntronicSNV - 13/22 1
6-39408157-G-A c.1646-9220C>T - IntronicSNV - 13/22 1
6-39408373-G-A c.1646-9436C>T - IntronicSNV - 13/22 1
6-39408373-G-T c.1646-9436C>A - IntronicSNV - 13/22 1
6-39408882-A-G c.1646-9945T>C - IntronicSNV - 13/22 1
6-39408954-G-A c.1646-10017C>T - IntronicSNV - 13/22 1
6-39408954-G-C c.1646-10017C>G - IntronicSNV - 13/22 1
6-39409237-T-C c.1646-10300A>G - IntronicSNV - 13/22 1
6-39409833-C-T c.1646-10896G>A - IntronicSNV - 13/22 1
6-39409841-C-T c.1646-10904G>A - IntronicSNV - 13/22 1
6-39410040-G-T c.1646-11103C>A - IntronicSNV - 13/22 1
6-39410053-A-T c.1646-11116T>A - IntronicSNV - 13/22 1
6-39410264-G-A c.1646-11327C>T - IntronicSNV - 13/22 1
6-39410264-G-T c.1646-11327C>A - IntronicSNV - 13/22 1
6-39410617-C-T c.1646-11680G>A - IntronicSNV - 13/22 1
6-39410665-G-A c.1646-11728C>T - IntronicSNV - 13/22 1
6-39410698-G-A c.1646-11761C>T - IntronicSNV - 13/22 1
6-39410763-A-G c.1646-11826T>C - IntronicSNV - 13/22 1
6-39410846-C-T c.1646-11909G>A - IntronicSNV - 13/22 1
6-39410851-T-C c.1646-11914A>G - IntronicSNV - 13/22 1
6-39410944-A-C c.1646-12007T>G - IntronicSNV - 13/22 1
6-39411055-C-T c.1646-12118G>A - IntronicSNV - 13/22 1
6-39411121-C-A c.1646-12184G>T - IntronicSNV - 13/22 1
6-39411121-C-T c.1646-12184G>A - IntronicSNV - 13/22 1
6-39411423-T-C c.1646-12486A>G - IntronicSNV - 13/22 1
6-39411472-G-A c.1646-12535C>T - IntronicSNV - 13/22 1
6-39411547-T-A c.1646-12610A>T - IntronicSNV - 13/22 1
6-39411632-T-A c.1646-12695A>T - IntronicSNV - 13/22 1
6-39411632-T-C c.1646-12695A>G - IntronicSNV - 13/22 1
6-39412068-G-A c.1646-13131C>T - IntronicSNV - 13/22 1
6-39412287-A-T c.1646-13350T>A - IntronicSNV - 13/22 1
6-39412770-T-G c.1646-13833A>C - IntronicSNV - 13/22 1
6-39413168-T-A c.1646-14231A>T - IntronicSNV - 13/22 1
6-39413490-G-A c.1646-14553C>T - IntronicSNV - 13/22 1
6-39413517-C-G c.1646-14580G>C - IntronicSNV - 13/22 1
6-39413634-T-C c.1646-14697A>G - IntronicSNV - 13/22 1
6-39413784-C-T c.1646-14847G>A - IntronicSNV - 13/22 1
6-39414027-G-T c.1646-15090C>A - IntronicSNV - 13/22 2
6-39414344-A-G c.1646-15407T>C - IntronicSNV - 13/22 1
6-39414799-C-T c.1646-15862G>A - IntronicSNV - 13/22 1
6-39414815-C-A c.1646-15878G>T - IntronicSNV - 13/22 1
6-39414815-C-T c.1646-15878G>A - IntronicSNV - 13/22 1
6-39414989-A-G c.1646-16052T>C - IntronicSNV - 13/22 1
6-39415389-C-T c.1646-16452G>A - IntronicSNV - 13/22 1
6-39415464-C-A c.1646-16527G>T - IntronicSNV - 13/22 1
6-39415464-C-T c.1646-16527G>A - IntronicSNV - 13/22 1
6-39415652-C-A c.1646-16715G>T - IntronicSNV - 13/22 1
6-39415990-G-A c.1646-17053C>T - IntronicSNV - 13/22 1
6-39416203-A-G c.1646-17266T>C - IntronicSNV - 13/22 1
6-39416366-C-A c.1646-17429G>T - IntronicSNV - 13/22 1
6-39416382-C-T c.1646-17445G>A - IntronicSNV - 13/22 1
6-39416799-C-T c.1646-17862G>A - IntronicSNV - 13/22 2
6-39417188-A-C c.1646-18251T>G - IntronicSNV - 13/22 1
6-39417268-C-A c.1646-18331G>T - IntronicSNV - 13/22 1
6-39417430-G-A c.1646-18493C>T - IntronicSNV - 13/22 1
6-39417430-G-C c.1646-18493C>G - IntronicSNV - 13/22 1
6-39417430-G-T c.1646-18493C>A - IntronicSNV - 13/22 1
6-39417869-G-A c.1646-18932C>T - IntronicSNV - 13/22 1
6-39417869-G-T c.1646-18932C>A - IntronicSNV - 13/22 1
6-39417919-G-A c.1646-18982C>T - IntronicSNV - 13/22 1
6-39417919-G-C c.1646-18982C>G - IntronicSNV - 13/22 1
6-39418109-G-A c.1646-19172C>T - IntronicSNV - 13/22 1
6-39418109-G-T c.1646-19172C>A - IntronicSNV - 13/22 1
6-39418577-T-A c.1646-19640A>T - IntronicSNV - 13/22 1
6-39419352-C-A c.1646-20415G>T - IntronicSNV - 13/22 1
6-39419352-C-G c.1646-20415G>C - IntronicSNV - 13/22 1
6-39419968-T-A c.1646-21031A>T - IntronicSNV - 13/22 1
6-39419968-T-C c.1646-21031A>G - IntronicSNV - 13/22 1
6-39419992-G-A c.1646-21055C>T - IntronicSNV - 13/22 1
6-39420035-G-A c.1646-21098C>T - IntronicSNV - 13/22 1
6-39420035-G-C c.1646-21098C>G - IntronicSNV - 13/22 1
6-39420405-G-A c.1646-21468C>T - IntronicSNV - 13/22 1
6-39420954-T-C c.1646-22017A>G - IntronicSNV - 13/22 1
6-39421054-G-A c.1646-22117C>T - IntronicSNV - 13/22 1
6-39421449-T-C c.1646-22512A>G - IntronicSNV - 13/22 1
6-39421715-T-G c.1646-22778A>C - IntronicSNV - 13/22 1
6-39422266-C-A c.1646-23329G>T - IntronicSNV - 13/22 1
6-39422266-C-T c.1646-23329G>A - IntronicSNV - 13/22 1
6-39422606-A-G c.1646-23669T>C - IntronicSNV - 13/22 1
6-39422607-C-T c.1646-23670G>A - IntronicSNV - 13/22 1
6-39425561-A-T c.1646-26624T>A - IntronicSNV - 13/22 1
6-39428370-T-TCTA c.1646-29436_1646-29434dup - IntronicInsertion - 13/22 1
6-39428480-C-A c.1646-29543G>T - IntronicSNV - 13/22 1
6-39428480-C-G c.1646-29543G>C - IntronicSNV - 13/22 1
6-39428876-G-C c.1646-29939C>G - IntronicSNV - 13/22 1
6-39429049-G-T c.1646-30112C>A - IntronicSNV - 13/22 1
6-39429202-A-G c.1646-30265T>C - IntronicSNV - 13/22 1
6-39429231-A-C c.1646-30294T>G - IntronicSNV - 13/22 1
6-39429307-G-T c.1646-30370C>A - IntronicSNV - 13/22 1
6-39429546-G-A c.1646-30609C>T - IntronicSNV - 13/22 1
6-39429546-G-C c.1646-30609C>G - IntronicSNV - 13/22 1
6-39429745-C-CTTAGA c.1646-30809_1646-30808insTCTAA - IntronicInsertion - 13/22 1
6-39430873-T-G c.1646-31936A>C - IntronicSNV - 13/22 1
6-39431105-C-A c.1646-32168G>T - IntronicSNV - 13/22 1
6-39431105-C-T c.1646-32168G>A - IntronicSNV - 13/22 1
6-39431229-C-A c.1646-32292G>T - IntronicSNV - 13/22 1
6-39431229-C-T c.1646-32292G>A - IntronicSNV - 13/22 1
6-39431331-T-C c.1646-32394A>G - IntronicSNV - 13/22 1
6-39431758-C-T c.1646-32821G>A - IntronicSNV - 13/22 1
6-39431924-C-T c.1646-32987G>A - IntronicSNV - 13/22 1
6-39432248-C-T c.1646-33311G>A - IntronicSNV - 13/22 1
6-39432503-A-G c.1646-33566T>C - IntronicSNV - 13/22 1
6-39432541-G-A c.1646-33604C>T - IntronicSNV - 13/22 1
6-39432643-T-C c.1646-33706A>G - IntronicSNV - 13/22 1
6-39432862-C-T c.1646-33925G>A - IntronicSNV - 13/22 1
6-39433138-G-A c.1646-34201C>T - IntronicSNV - 13/22 1
6-39433550-A-C c.1646-34613T>G - IntronicSNV - 13/22 1
6-39433907-C-A c.1646-34970G>T - IntronicSNV - 13/22 1
6-39433907-C-T c.1646-34970G>A - IntronicSNV - 13/22 1
6-39434009-C-A c.1646-35072G>T - IntronicSNV - 13/22 1
6-39434009-C-G c.1646-35072G>C - IntronicSNV - 13/22 1
6-39434009-C-T c.1646-35072G>A - IntronicSNV - 13/22 1
6-39435269-A-G c.1646-36332T>C - IntronicSNV - 13/22 1
6-39436048-C-T c.1646-37111G>A - IntronicSNV - 13/22 1
6-39436141-T-A c.1646-37204A>T - IntronicSNV - 13/22 1
6-39436359-A-G c.1646-37422T>C - IntronicSNV - 13/22 1
6-39437796-G-A c.1646-38859C>T - IntronicSNV - 13/22 1
6-39438470-C-G c.1646-39533G>C - IntronicSNV - 13/22 1
6-39438470-C-T c.1646-39533G>A - IntronicSNV - 13/22 1
6-39439303-T-A c.1646-40366A>T - IntronicSNV - 13/22 1
6-39439484-A-T c.1646-40547T>A - IntronicSNV - 13/22 1
6-39440732-A-G c.1646-41795T>C - IntronicSNV - 13/22 1
6-39440732-A-T c.1646-41795T>A - IntronicSNV - 13/22 1
6-39440766-G-A c.1646-41829C>T - IntronicSNV - 13/22 1
6-39440812-G-A c.1646-41875C>T - IntronicSNV - 13/22 1
6-39441152-C-T c.1646-42215G>A - IntronicSNV - 13/22 1
6-39441691-C-G c.1646-42754G>C - IntronicSNV - 13/22 1
6-39442189-T-G c.1646-43252A>C - IntronicSNV - 13/22 1
6-39442249-C-T c.1646-43312G>A - IntronicSNV - 13/22 1
6-39442293-A-G c.1646-43356T>C - IntronicSNV - 13/22 1
6-39442575-C-A c.1646-43638G>T - IntronicSNV - 13/22 1
6-39442575-C-T c.1646-43638G>A - IntronicSNV - 13/22 1
6-39442779-C-T c.1646-43842G>A - IntronicSNV - 13/22 1
6-39443642-C-A c.1646-44705G>T - IntronicSNV - 13/22 1
6-39443808-A-G c.1646-44871T>C - IntronicSNV - 13/22 1
6-39444664-G-A c.1646-45727C>T - IntronicSNV - 13/22 1
6-39444948-C-CTAA c.1646-46014_1646-46012dup - IntronicInsertion - 13/22 1
6-39445261-G-A c.1646-46324C>T - IntronicSNV - 13/22 1
6-39445281-C-A c.1646-46344G>T - IntronicSNV - 13/22 1
6-39445281-C-T c.1646-46344G>A - IntronicSNV - 13/22 1
6-39445286-T-C c.1646-46349A>G - IntronicSNV - 13/22 1
6-39445286-T-G c.1646-46349A>C - IntronicSNV - 13/22 1
6-39445410-T-C c.1646-46473A>G - IntronicSNV - 13/22 1
6-39445433-T-A c.1646-46496A>T - IntronicSNV - 13/22 1
6-39445433-T-C c.1646-46496A>G - IntronicSNV - 13/22 1
6-39445492-C-T c.1646-46555G>A - IntronicSNV - 13/22 1
6-39445561-C-T c.1646-46624G>A - IntronicSNV - 13/22 1
6-39445720-T-C c.1646-46783A>G - IntronicSNV - 13/22 1
6-39445801-C-T c.1646-46864G>A - IntronicSNV - 13/22 1
6-39445820-A-T c.1646-46883T>A - IntronicSNV - 13/22 1
6-39445825-T-A c.1646-46888A>T - IntronicSNV - 13/22 1
6-39445837-A-G c.1646-46900T>C - IntronicSNV - 13/22 1
6-39445837-A-T c.1646-46900T>A - IntronicSNV - 13/22 1
6-39445965-A-AC c.1646-47029dup - IntronicInsertion - 13/22 1
6-39446043-T-A c.1646-47106A>T - IntronicSNV - 13/22 1
6-39446331-G-C c.1646-47394C>G - IntronicSNV - 13/22 1
6-39446384-C-T c.1646-47447G>A - IntronicSNV - 13/22 1
6-39446448-C-T c.1646-47511G>A - IntronicSNV - 13/22 1
6-39446762-C-G c.1646-47825G>C - IntronicSNV - 13/22 1
6-39447065-A-G c.1646-48128T>C - IntronicSNV - 13/22 1
6-39447190-T-G c.1646-48253A>C - IntronicSNV - 13/22 1
6-39447952-T-C c.1646-49015A>G - IntronicSNV - 13/22 1
6-39448121-G-A c.1646-49184C>T - IntronicSNV - 13/22 1
6-39448142-G-A c.1646-49205C>T - IntronicSNV - 13/22 1
6-39448194-G-T c.1646-49257C>A - IntronicSNV - 13/22 1
6-39448389-G-A c.1646-49452C>T - IntronicSNV - 13/22 1
6-39448494-T-C c.1646-49557A>G - IntronicSNV - 13/22 1
6-39448644-T-C c.1646-49707A>G - IntronicSNV - 13/22 1
6-39448781-C-T c.1646-49844G>A - IntronicSNV - 13/22 1
6-39448918-T-A c.1646-49981A>T - IntronicSNV - 13/22 1
6-39449061-A-G c.1646-50124T>C - IntronicSNV - 13/22 1
6-39449432-C-T c.1646-50495G>A - IntronicSNV - 13/22 1
6-39449460-C-T c.1646-50523G>A - IntronicSNV - 13/22 1
6-39449475-A-G c.1646-50538T>C - IntronicSNV - 13/22 1
6-39450387-C-T c.1646-51450G>A - IntronicSNV - 13/22 1
6-39450401-T-G c.1646-51464A>C - IntronicSNV - 13/22 1
6-39450606-C-A c.1646-51669G>T - IntronicSNV - 13/22 1
6-39450606-C-T c.1646-51669G>A - IntronicSNV - 13/22 1
6-39450769-C-T c.1646-51832G>A - IntronicSNV - 13/22 1
6-39450953-C-T c.1646-52016G>A - IntronicSNV - 13/22 1
6-39451069-A-G c.1646-52132T>C - IntronicSNV - 13/22 1
6-39451532-C-T c.1646-52595G>A - IntronicSNV - 13/22 1
6-39451544-G-A c.1646-52607C>T - IntronicSNV - 13/22 1
6-39451869-C-T c.1646-52932G>A - IntronicSNV - 13/22 1
6-39452034-C-A c.1646-53097G>T - IntronicSNV - 13/22 1
6-39452034-C-T c.1646-53097G>A - IntronicSNV - 13/22 1
6-39452149-T-C c.1646-53212A>G - IntronicSNV - 13/22 1
6-39452169-G-C c.1646-53232C>G - IntronicSNV - 13/22 1
6-39452169-G-T c.1646-53232C>A - IntronicSNV - 13/22 1
6-39452309-G-A c.1646-53372C>T - IntronicSNV - 13/22 1
6-39452309-G-C c.1646-53372C>G - IntronicSNV - 13/22 1
6-39452309-G-T c.1646-53372C>A - IntronicSNV - 13/22 1
6-39452465-G-C c.1646-53528C>G - IntronicSNV - 13/22 1
6-39453064-T-C c.1646-54127A>G - IntronicSNV - 13/22 1
6-39453127-A-G c.1646-54190T>C - IntronicSNV - 13/22 1
6-39453229-C-T c.1646-54292G>A - IntronicSNV - 13/22 1
6-39453954-A-G c.1645+53825T>C - IntronicSNV - 13/22 1
6-39454476-T-C c.1645+53303A>G - IntronicSNV - 13/22 1
6-39454572-C-T c.1645+53207G>A - IntronicSNV - 13/22 1
6-39454579-C-A c.1645+53200G>T - IntronicSNV - 13/22 1
6-39454794-C-A c.1645+52985G>T - IntronicSNV - 13/22 1
6-39454794-C-T c.1645+52985G>A - IntronicSNV - 13/22 1
6-39454935-C-A c.1645+52844G>T - IntronicSNV - 13/22 1
6-39454935-C-T c.1645+52844G>A - IntronicSNV - 13/22 1
6-39455167-G-T c.1645+52612C>A - IntronicSNV - 13/22 1
6-39455345-A-C c.1645+52434T>G - IntronicSNV - 13/22 1
6-39455345-A-G c.1645+52434T>C - IntronicSNV - 13/22 1
6-39455379-C-T c.1645+52400G>A - IntronicSNV - 13/22 1
6-39455398-A-G c.1645+52381T>C - IntronicSNV - 13/22 1
6-39455505-G-A c.1645+52274C>T - IntronicSNV - 13/22 1
6-39455581-A-C c.1645+52198T>G - IntronicSNV - 13/22 1
6-39455729-G-A c.1645+52050C>T - IntronicSNV - 13/22 1
6-39456287-A-T c.1645+51492T>A - IntronicSNV - 13/22 1
6-39456510-C-T c.1645+51269G>A - IntronicSNV - 13/22 1
6-39456755-G-A c.1645+51024C>T - IntronicSNV - 13/22 1
6-39456816-A-G c.1645+50963T>C - IntronicSNV - 13/22 1
6-39457244-G-A c.1645+50535C>T - IntronicSNV - 13/22 1
6-39457251-G-T c.1645+50528C>A - IntronicSNV - 13/22 1
6-39457656-A-G c.1645+50123T>C - IntronicSNV - 13/22 1
6-39457903-G-A c.1645+49876C>T - IntronicSNV - 13/22 1
6-39458109-C-T c.1645+49670G>A - IntronicSNV - 13/22 1
6-39458150-A-C c.1645+49629T>G - IntronicSNV - 13/22 1
6-39458150-A-T c.1645+49629T>A - IntronicSNV - 13/22 1
6-39458202-G-A c.1645+49577C>T - IntronicSNV - 13/22 1
6-39458202-G-C c.1645+49577C>G - IntronicSNV - 13/22 1
6-39458326-T-A c.1645+49453A>T - IntronicSNV - 13/22 1
6-39458326-T-C c.1645+49453A>G - IntronicSNV - 13/22 1
6-39459991-T-C c.1645+47788A>G - IntronicSNV - 13/22 1
6-39460255-C-G c.1645+47524G>C - IntronicSNV - 13/22 1
6-39460255-C-T c.1645+47524G>A - IntronicSNV - 13/22 1
6-39460359-G-A c.1645+47420C>T - IntronicSNV - 13/22 1
6-39460424-C-A c.1645+47355G>T - IntronicSNV - 13/22 1
6-39460882-T-G c.1645+46897A>C - IntronicSNV - 13/22 1
6-39460945-T-C c.1645+46834A>G - IntronicSNV - 13/22 1
6-39460999-T-C c.1645+46780A>G - IntronicSNV - 13/22 1
6-39460999-T-G c.1645+46780A>C - IntronicSNV - 13/22 1
6-39461845-A-G c.1645+45934T>C - IntronicSNV - 13/22 1
6-39462256-G-C c.1645+45523C>G - IntronicSNV - 13/22 1
6-39462421-T-C c.1645+45358A>G - IntronicSNV - 13/22 1
6-39462539-G-A c.1645+45240C>T - IntronicSNV - 13/22 1
6-39462570-G-A c.1645+45209C>T - IntronicSNV - 13/22 1
6-39462570-G-T c.1645+45209C>A - IntronicSNV - 13/22 1
6-39463562-T-C c.1645+44217A>G - IntronicSNV - 13/22 1
6-39463661-T-C c.1645+44118A>G - IntronicSNV - 13/22 1
6-39463985-C-T c.1645+43794G>A - IntronicSNV - 13/22 1
6-39464104-A-G c.1645+43675T>C - IntronicSNV - 13/22 1
6-39464379-C-G c.1645+43400G>C - IntronicSNV - 13/22 1
6-39464379-C-T c.1645+43400G>A - IntronicSNV - 13/22 1
6-39464712-C-T c.1645+43067G>A - IntronicSNV - 13/22 2
6-39464913-C-T c.1645+42866G>A - IntronicSNV - 13/22 1
6-39465197-C-A c.1645+42582G>T - IntronicSNV - 13/22 1
6-39465197-C-T c.1645+42582G>A - IntronicSNV - 13/22 1
6-39465202-C-T c.1645+42577G>A - IntronicSNV - 13/22 1
6-39466580-T-C c.1645+41199A>G - IntronicSNV - 13/22 1
6-39466613-C-T c.1645+41166G>A - IntronicSNV - 13/22 1
6-39467984-T-A c.1645+39795A>T - IntronicSNV - 13/22 1
6-39467984-T-C c.1645+39795A>G - IntronicSNV - 13/22 1
6-39468083-C-T c.1645+39696G>A - IntronicSNV - 13/22 1
6-39468972-G-T c.1645+38807C>A - IntronicSNV - 13/22 1
6-39469032-C-G c.1645+38747G>C - IntronicSNV - 13/22 1
6-39469936-C-T c.1645+37843G>A - IntronicSNV - 13/22 1
6-39469961-A-G c.1645+37818T>C - IntronicSNV - 13/22 1
6-39470159-C-A c.1645+37620G>T - IntronicSNV - 13/22 1
6-39470323-G-A c.1645+37456C>T - IntronicSNV - 13/22 1
6-39470926-C-A c.1645+36853G>T - IntronicSNV - 13/22 1
6-39471010-A-C c.1645+36769T>G - IntronicSNV - 13/22 1
6-39471086-C-T c.1645+36693G>A - IntronicSNV - 13/22 1
6-39471190-A-C c.1645+36589T>G - IntronicSNV - 13/22 1
6-39471260-C-A c.1645+36519G>T - IntronicSNV - 13/22 1
6-39471290-C-A c.1645+36489G>T - IntronicSNV - 13/22 1
6-39471290-C-T c.1645+36489G>A - IntronicSNV - 13/22 1
6-39471560-T-A c.1645+36219A>T - IntronicSNV - 13/22 1
6-39471560-T-C c.1645+36219A>G - IntronicSNV - 13/22 1
6-39471743-A-G c.1645+36036T>C - IntronicSNV - 13/22 1
6-39471860-G-A c.1645+35919C>T - IntronicSNV - 13/22 1
6-39471981-C-T c.1645+35798G>A - IntronicSNV - 13/22 1
6-39472045-C-T c.1645+35734G>A - IntronicSNV - 13/22 1
6-39472846-A-G c.1645+34933T>C - IntronicSNV - 13/22 1
6-39473149-G-A c.1645+34630C>T - IntronicSNV - 13/22 1
6-39474098-T-C c.1645+33681A>G - IntronicSNV - 13/22 1
6-39474098-T-G c.1645+33681A>C - IntronicSNV - 13/22 1
6-39474180-A-G c.1645+33599T>C - IntronicSNV - 13/22 1
6-39474370-G-A c.1645+33409C>T - IntronicSNV - 13/22 1
6-39474404-C-T c.1645+33375G>A - IntronicSNV - 13/22 1
6-39474432-C-T c.1645+33347G>A - IntronicSNV - 13/22 1
6-39474909-A-G c.1645+32870T>C - IntronicSNV - 13/22 1
6-39475060-C-T c.1645+32719G>A - IntronicSNV - 13/22 2
6-39475322-C-T c.1645+32457G>A - IntronicSNV - 13/22 1
6-39475514-T-C c.1645+32265A>G - IntronicSNV - 13/22 1
6-39475585-C-T c.1645+32194G>A - IntronicSNV - 13/22 1
6-39475763-C-T c.1645+32016G>A - IntronicSNV - 13/22 1
6-39476169-G-A c.1645+31610C>T - IntronicSNV - 13/22 1
6-39476184-G-A c.1645+31595C>T - IntronicSNV - 13/22 1
6-39476315-A-C c.1645+31464T>G - IntronicSNV - 13/22 1
6-39476325-C-T c.1645+31454G>A - IntronicSNV - 13/22 1
6-39476380-C-T c.1645+31399G>A - IntronicSNV - 13/22 1
6-39476784-T-A c.1645+30995A>T - IntronicSNV - 13/22 1
6-39476785-C-T c.1645+30994G>A - IntronicSNV - 13/22 1
6-39476870-C-T c.1645+30909G>A - IntronicSNV - 13/22 1
6-39476961-G-A c.1645+30818C>T - IntronicSNV - 13/22 1
6-39477063-A-G c.1645+30716T>C - IntronicSNV - 13/22 1
6-39478034-C-A c.1645+29745G>T - IntronicSNV - 13/22 1
6-39478034-C-G c.1645+29745G>C - IntronicSNV - 13/22 1
6-39478315-G-A c.1645+29464C>T - IntronicSNV - 13/22 1
6-39478391-C-A c.1645+29388G>T - IntronicSNV - 13/22 1
6-39478391-C-T c.1645+29388G>A - IntronicSNV - 13/22 1
6-39478392-G-A c.1645+29387C>T - IntronicSNV - 13/22 1
6-39478830-T-G c.1645+28949A>C - IntronicSNV - 13/22 1
6-39479492-A-G c.1645+28287T>C - IntronicSNV - 13/22 1
6-39479734-G-A c.1645+28045C>T - IntronicSNV - 13/22 1
6-39479881-A-T c.1645+27898T>A - IntronicSNV - 13/22 1
6-39480259-C-G c.1645+27520G>C - IntronicSNV - 13/22 1
6-39480269-G-A c.1645+27510C>T - IntronicSNV - 13/22 1
6-39480269-G-C c.1645+27510C>G - IntronicSNV - 13/22 1
6-39480542-C-A c.1645+27237G>T - IntronicSNV - 13/22 1
6-39480590-C-T c.1645+27189G>A - IntronicSNV - 13/22 1
6-39481044-T-C c.1645+26735A>G - IntronicSNV - 13/22 1
6-39481092-C-T c.1645+26687G>A - IntronicSNV - 13/22 1
6-39481519-T-G c.1645+26260A>C - IntronicSNV - 13/22 1
6-39481718-T-A c.1645+26061A>T - IntronicSNV - 13/22 1
6-39481786-G-A c.1645+25993C>T - IntronicSNV - 13/22 1
6-39482543-CT-C c.1645+25235del - IntronicDeletion - 13/22 1
6-39482555-C-CG c.1645+25223_1645+25224insC - IntronicInsertion - 13/22 1
6-39482850-TTA-T c.1645+24927_1645+24928del - IntronicDeletion - 13/22 1
6-39482942-A-G c.1645+24837T>C - IntronicSNV - 13/22 1
6-39483139-C-T c.1645+24640G>A - IntronicSNV - 13/22 1
6-39483163-T-A c.1645+24616A>T - IntronicSNV - 13/22 1
6-39483163-T-C c.1645+24616A>G - IntronicSNV - 13/22 1
6-39483272-A-C c.1645+24507T>G - IntronicSNV - 13/22 1
6-39483296-T-A c.1645+24483A>T - IntronicSNV - 13/22 1
6-39483632-G-A c.1645+24147C>T - IntronicSNV - 13/22 1
6-39483864-G-A c.1645+23915C>T - IntronicSNV - 13/22 1
6-39483899-C-T c.1645+23880G>A - IntronicSNV - 13/22 1
6-39484158-A-T c.1645+23621T>A - IntronicSNV - 13/22 1
6-39484283-G-C c.1645+23496C>G - IntronicSNV - 13/22 1
6-39484727-G-A c.1645+23052C>T - IntronicSNV - 13/22 1
6-39484739-G-A c.1645+23040C>T - IntronicSNV - 13/22 1
6-39484739-G-T c.1645+23040C>A - IntronicSNV - 13/22 1
6-39485052-C-A c.1645+22727G>T - IntronicSNV - 13/22 1
6-39485604-A-G c.1645+22175T>C - IntronicSNV - 13/22 1
6-39485720-C-T c.1645+22059G>A - IntronicSNV - 13/22 1
6-39486048-T-C c.1645+21731A>G - IntronicSNV - 13/22 1
6-39486517-T-C c.1645+21262A>G - IntronicSNV - 13/22 1
6-39486839-G-C c.1645+20940C>G - IntronicSNV - 13/22 1
6-39486839-G-T c.1645+20940C>A - IntronicSNV - 13/22 1
6-39486907-G-C c.1645+20872C>G - IntronicSNV - 13/22 1
6-39486907-G-T c.1645+20872C>A - IntronicSNV - 13/22 1
6-39486950-C-T c.1645+20829G>A - IntronicSNV - 13/22 1
6-39487475-G-A c.1645+20304C>T - IntronicSNV - 13/22 1
6-39487475-G-C c.1645+20304C>G - IntronicSNV - 13/22 1
6-39487655-G-A c.1645+20124C>T - IntronicSNV - 13/22 1
6-39487668-G-A c.1645+20111C>T - IntronicSNV - 13/22 1
6-39487668-G-C c.1645+20111C>G - IntronicSNV - 13/22 1
6-39488102-C-A c.1645+19677G>T - IntronicSNV - 13/22 1
6-39488282-T-G c.1645+19497A>C - IntronicSNV - 13/22 1
6-39489713-T-C c.1645+18066A>G - IntronicSNV - 13/22 1
6-39489791-C-T c.1645+17988G>A - IntronicSNV - 13/22 1
6-39490217-G-T c.1645+17562C>A - IntronicSNV - 13/22 1
6-39490219-A-C c.1645+17560T>G - IntronicSNV - 13/22 1
6-39490365-T-C c.1645+17414A>G - IntronicSNV - 13/22 1
6-39491137-C-T c.1645+16642G>A - IntronicSNV - 13/22 1
6-39491549-G-T c.1645+16230C>A - IntronicSNV - 13/22 1
6-39491900-G-C c.1645+15879C>G - IntronicSNV - 13/22 1
6-39492194-C-T c.1645+15585G>A - IntronicSNV - 13/22 1
6-39492232-G-A c.1645+15547C>T - IntronicSNV - 13/22 1
6-39492353-G-C c.1645+15426C>G - IntronicSNV - 13/22 1
6-39492353-G-T c.1645+15426C>A - IntronicSNV - 13/22 1
6-39492615-G-A c.1645+15164C>T - IntronicSNV - 13/22 1
6-39492666-C-T c.1645+15113G>A - IntronicSNV - 13/22 1
6-39492952-G-A c.1645+14827C>T - IntronicSNV - 13/22 1
6-39492952-G-T c.1645+14827C>A - IntronicSNV - 13/22 1
6-39492993-G-C c.1645+14786C>G - IntronicSNV - 13/22 1
6-39493203-T-C c.1645+14576A>G - IntronicSNV - 13/22 1
6-39493511-T-C c.1645+14268A>G - IntronicSNV - 13/22 1
6-39494135-C-CT c.1645+13643dup - IntronicInsertion - 13/22 1
6-39494174-T-A c.1645+13605A>T - IntronicSNV - 13/22 1
6-39494174-T-G c.1645+13605A>C - IntronicSNV - 13/22 1
6-39494255-A-G c.1645+13524T>C - IntronicSNV - 13/22 1
6-39494255-A-T c.1645+13524T>A - IntronicSNV - 13/22 1
6-39494783-A-G c.1645+12996T>C - IntronicSNV - 13/22 1
6-39494926-G-A c.1645+12853C>T - IntronicSNV - 13/22 1
6-39495108-A-G c.1645+12671T>C - IntronicSNV - 13/22 1
6-39495217-T-C c.1645+12562A>G - IntronicSNV - 13/22 1
6-39495295-GA-G c.1645+12483del - IntronicDeletion - 13/22 1
6-39495548-C-T c.1645+12231G>A - IntronicSNV - 13/22 1
6-39495765-T-A c.1645+12014A>T - IntronicSNV - 13/22 1
6-39495765-T-C c.1645+12014A>G - IntronicSNV - 13/22 1
6-39496417-T-G c.1645+11362A>C - IntronicSNV - 13/22 1
6-39496456-T-A c.1645+11323A>T - IntronicSNV - 13/22 1
6-39496456-T-G c.1645+11323A>C - IntronicSNV - 13/22 1
6-39496575-A-C c.1645+11204T>G - IntronicSNV - 13/22 1
6-39496575-A-G c.1645+11204T>C - IntronicSNV - 13/22 1
6-39497541-C-T c.1645+10238G>A - IntronicSNV - 13/22 1
6-39498025-T-C c.1645+9754A>G - IntronicSNV - 13/22 1
6-39498247-G-A c.1645+9532C>T - IntronicSNV - 13/22 1
6-39498554-C-T c.1645+9225G>A - IntronicSNV - 13/22 1
6-39498717-A-G c.1645+9062T>C - IntronicSNV - 13/22 1
6-39498760-T-C c.1645+9019A>G - IntronicSNV - 13/22 1
6-39498760-T-G c.1645+9019A>C - IntronicSNV - 13/22 1
6-39498951-C-G c.1645+8828G>C - IntronicSNV - 13/22 1
6-39499719-C-T c.1645+8060G>A - IntronicSNV - 13/22 1
6-39499864-G-A c.1645+7915C>T - IntronicSNV - 13/22 1
6-39500232-C-T c.1645+7547G>A - IntronicSNV - 13/22 1
6-39500579-C-A c.1645+7200G>T - IntronicSNV - 13/22 1
6-39500604-G-A c.1645+7175C>T - IntronicSNV - 13/22 1
6-39500634-T-G c.1645+7145A>C - IntronicSNV - 13/22 1
6-39500988-G-A c.1645+6791C>T - IntronicSNV - 13/22 1
6-39501004-G-A c.1645+6775C>T - IntronicSNV - 13/22 1
6-39501004-G-T c.1645+6775C>A - IntronicSNV - 13/22 1
6-39501045-G-A c.1645+6734C>T - IntronicSNV - 13/22 1
6-39501177-G-A c.1645+6602C>T - IntronicSNV - 13/22 1
6-39501559-C-T c.1645+6220G>A - IntronicSNV - 13/22 1
6-39501704-C-T c.1645+6075G>A - IntronicSNV - 13/22 1
6-39501950-C-T c.1645+5829G>A - IntronicSNV - 13/22 1
6-39502039-T-C c.1645+5740A>G - IntronicSNV - 13/22 1
6-39502039-T-G c.1645+5740A>C - IntronicSNV - 13/22 1
6-39502322-G-T c.1645+5457C>A - IntronicSNV - 13/22 1
6-39502445-C-A c.1645+5334G>T - IntronicSNV - 13/22 1
6-39502445-C-T c.1645+5334G>A - IntronicSNV - 13/22 1
6-39502688-G-A c.1645+5091C>T - IntronicSNV - 13/22 1
6-39502797-T-C c.1645+4982A>G - IntronicSNV - 13/22 1
6-39502966-A-C c.1645+4813T>G - IntronicSNV - 13/22 1
6-39502966-A-G c.1645+4813T>C - IntronicSNV - 13/22 1
6-39502995-C-A c.1645+4784G>T - IntronicSNV - 13/22 1
6-39502995-C-G c.1645+4784G>C - IntronicSNV - 13/22 1
6-39504056-G-GT c.1645+3722dup - IntronicInsertion - 13/22 1
6-39505693-C-T c.1645+2086G>A - IntronicSNV - 13/22 1
6-39505742-A-C c.1645+2037T>G - IntronicSNV - 13/22 1
6-39507142-C-T c.1645+637G>A - IntronicSNV - 13/22 1
6-39507276-C-T c.1645+503G>A - IntronicSNV - 13/22 1
6-39507475-C-T c.1645+304G>A - IntronicSNV - 13/22 2
6-39507569-A-T c.1645+210T>A - IntronicSNV - 13/22 1
6-39507779-C-A c.1645G>T p.G549* Nonsense 13/23 - 2
6-39507786-C-A c.1638G>T p.K546N Missense 13/23 - 2
6-39507786-C-G c.1638G>C p.K546N Missense 13/23 - 1
6-39507787-T-C c.1637A>G p.K546R Missense 13/23 - 1
6-39507788-T-C c.1636A>G p.K546E Missense 13/23 - 1
6-39507794-G-A c.1630C>T p.L544F Missense 13/23 - 7
6-39507795-C-A c.1629G>T p.L543F Missense 13/23 - 1
6-39507798-A-C c.1626T>G p.S542R Missense 13/23 - 3
6-39507798-A-T c.1626T>A p.S542R Missense 13/23 - 4
6-39507800-T-G c.1624A>C p.S542R Missense 13/23 - 3
6-39507802-G-A c.1622C>T p.S541F Missense 13/23 - 3
6-39507802-G-T c.1622C>A p.S541Y Missense 13/23 - 2
6-39507805-C-A c.1619G>T p.R540I Missense 13/23 - 5
6-39507806-T-C c.1618A>G p.R540G Missense 13/23 - 1
6-39507807-T-A c.1617A>T p.K539N Missense 13/23 - 1
6-39507807-T-G c.1617A>C p.K539N Missense 13/23 - 1
6-39507810-C-A c.1614G>T p.G538= Synonymous 13/23 - 1
6-39507810-C-G c.1614G>C p.G538= Synonymous 13/23 - 1
6-39507810-C-T c.1614G>A p.G538= Synonymous 13/23 - 2
6-39507811-C-T c.1613G>A p.G538E Missense 13/23 - 1
6-39507812-C-G c.1612G>C p.G538R Missense 13/23 - 1
6-39507815-A-C c.1609T>G p.L537V Missense 13/23 - 1
6-39507818-T-C c.1606A>G p.I536V Missense 13/23 - 1
6-39507819-G-A c.1605C>T p.S535= Synonymous 13/23 - 1
6-39507828-C-A c.1596G>T p.Q532H Missense 13/23 - 3
6-39507828-C-G c.1596G>C p.Q532H Missense 13/23 - 2
6-39507833-C-T c.1591G>A p.A531T Missense 13/23 - 1
6-39507841-G-A c.1583C>T p.P528L Missense 13/23 - 4
6-39507841-G-C c.1583C>G p.P528R Missense 13/23 - 1
6-39507839-AG-A c.1584del p.S529Hfs*20 Frameshift 13/23 - 1
6-39507842-G-A c.1582C>T p.P528S Missense 13/23 - 2
6-39507845-C-A c.1579G>T p.A527S Missense 13/23 - 1
6-39507846-TGA-GTT c.1576_1578delinsAAC p.S526N Missense 13/23 - 1
6-39507848-A-T c.1576T>A p.S526T Missense 13/23 - 3
6-39507850-G-A c.1574C>T p.S525F Missense 13/23 - 6
6-39507856-C-A c.1568G>T p.R523L Missense 13/23 - 1
6-39507856-C-T c.1568G>A p.R523Q Missense 13/23 - 1
6-39507857-G-A c.1567C>T p.R523* Nonsense 13/23 - 10
6-39507857-G-T c.1567C>A p.R523= Synonymous 13/23 - 1
6-39507858-C-T c.1566G>A p.M522I Missense 13/23 - 1
6-39507860-T-A c.1564A>T p.M522L Missense 13/23 - 1
6-39507862-C-A c.1562G>T p.R521I Missense 13/23 - 1
6-39507868-C-A c.1556G>T p.G519V Missense 13/23 - 3
6-39507875-C-T c.1549G>A p.E517K Missense 13/23 - 1
6-39507884-C-G c.1540G>C p.G514R Missense 13/23 - 2
6-39507884-C-T c.1540G>A p.G514R Missense 13/23 - 2
6-39507885-T-A c.1539A>T p.L513= Synonymous 13/23 - 2
6-39507885-T-C c.1539A>G p.L513= Synonymous 13/23 - 1
6-39507885-T-G c.1539A>C p.L513= Synonymous 13/23 - 1
6-39507887-G-A c.1537C>T p.L513= Synonymous 13/23 - 1
6-39507888-G-A c.1536C>T p.R512= Synonymous 13/23 - 1
6-39507888-G-C c.1536C>G p.R512= Synonymous 13/23 - 1
6-39507888-G-T c.1536C>A p.R512= Synonymous 13/23 - 1
6-39507889-C-A c.1535G>T p.R512L Missense 13/23 - 5
6-39507889-C-T c.1535G>A p.R512H Missense 13/23 - 17
6-39507890-G-A c.1534C>T p.R512C Missense 13/23 - 8
6-39507890-G-T c.1534C>A p.R512S Missense 13/23 - 2
6-39507891-G-A c.1533C>T p.F511= Synonymous 13/23 - 1
6-39507895-G-A c.1529C>T p.P510L Missense 13/23 - 1
6-39507895-G-C c.1529C>G p.P510R Missense 13/23 - 2
6-39507893-AG-A c.1530del p.F511Sfs*3 Frameshift 13/23 - 1
6-39507899-G-T c.1525C>A p.P509T Missense 13/23 - 4
6-39507900-G-A c.1524C>T p.S508= Synonymous 13/23 - 1
6-39507903-C-A c.1521G>T p.Q507H Missense 13/23 - 1
6-39507903-C-G c.1521G>C p.Q507H Missense 13/23 - 1
6-39507903-C-T c.1521G>A p.Q507= Synonymous 13/23 - 1
6-39507906-G-A c.1518C>T p.S506= Synonymous 13/23 - 4
6-39507922-C-T c.1502G>A p.R501H Missense 13/23 - 1
6-39507923-G-A c.1501C>T p.R501C Missense 13/23 - 1
6-39507929-C-T c.1495G>A p.D499N Missense 13/23 - 2
6-39507930-C-A c.1494G>T p.M498I Missense 13/23 - 6
6-39507930-C-G c.1494G>C p.M498I Missense 13/23 - 4
6-39507930-C-T c.1494G>A p.M498I Missense 13/23 - 9
6-39507933-G-A c.1491C>T p.G497= Synonymous 13/23 - 1
6-39507933-G-C c.1491C>G p.G497= Synonymous 13/23 - 1
6-39507933-G-T c.1491C>A p.G497= Synonymous 13/23 - 1
6-39507934-C-T c.1490G>A p.G497D Missense 13/23 - 3
6-39507938-C-T c.1486G>A p.A496T Missense 13/23 - 6
6-39507941-A-C c.1483T>G p.L495V Missense 13/23 - 1
6-39507945-G-C c.1479C>G p.L493= Synonymous 13/23 - 1
6-39507949-G-A c.1475C>T p.A492V Missense 13/23 - 3
6-39507953-C-T c.1471G>A p.E491K Missense 13/23 - 2
6-39507954-C-T c.1470G>A p.Q490= Synonymous 13/23 - 1
6-39507955-T-C c.1469A>G p.Q490R Missense 13/23 - 1
6-39507957-A-T c.1467T>A p.A489= Synonymous 13/23 - 1
6-39507958-G-A c.1466C>T p.A489V Missense 13/23 - 3
6-39507959-C-T c.1465G>A p.A489T Missense 13/23 - 4
6-39507966-C-A c.1458G>T p.K486N Missense 13/23 - 6
6-39507966-C-G c.1458G>C p.K486N Missense 13/23 - 6
6-39507966-C-T c.1458G>A p.K486= Synonymous 13/23 - 1
6-39507968-T-A c.1456A>T p.K486* Nonsense 13/23 - 2
6-39507966-C-CT c.1457dup p.K487Efs*14 Frameshift 13/23 - 1
6-39507971-C-A c.1453G>T p.E485* Nonsense 13/23 - 1
6-39507971-C-T c.1453G>A p.E485K Missense 13/23 - 1
6-39507974-T-TA c.1449_1450insT p.K484* Nonsense 13/23 - 1
6-39507979-A-C c.1445T>G p.L482* Nonsense 13/23 - 1
6-39507988-A-T c.1436T>A p.V479D Missense 13/23 - 1
6-39507990-C-A c.1434G>T p.L478= Synonymous 13/23 - 2
6-39507990-CAG-GAT c.1432_1434delinsATC p.L478I Missense 13/23 - 1
6-39507990-C-G c.1434G>C p.L478= Synonymous 13/23 - 2
6-39507990-C-T c.1434G>A p.L478= Synonymous 13/23 - 3
6-39507992-G-A c.1432C>T p.L478= Synonymous 13/23 - 2
6-39507993-G-A c.1431C>T p.I477= Synonymous 13/23 - 6
6-39507994-A-G c.1430T>C p.I477T Missense 13/23 - 1
6-39507995-T-A c.1429A>T p.I477F Missense 13/23 - 1
6-39507995-T-C c.1429A>G p.I477V Missense 13/23 - 1
6-39508494-C-T c.1427-497G>A - IntronicSNV - 12/22 1
6-39508590-T-G c.1427-593A>C - IntronicSNV - 12/22 1
6-39508622-A-G c.1427-625T>C - IntronicSNV - 12/22 1
6-39508715-G-A c.1427-718C>T - IntronicSNV - 12/22 1
6-39508795-C-T c.1427-798G>A - IntronicSNV - 12/22 2
6-39508870-T-C c.1427-873A>G - IntronicSNV - 12/22 1
6-39508980-T-C c.1427-983A>G - IntronicSNV - 12/22 1
6-39509446-A-G c.1427-1449T>C - IntronicSNV - 12/22 1
6-39509446-A-T c.1427-1449T>A - IntronicSNV - 12/22 1
6-39509820-C-T c.1427-1823G>A - IntronicSNV - 12/22 1
6-39510222-G-A c.1426+2109C>T - IntronicSNV - 12/22 1
6-39510370-T-C c.1426+1961A>G - IntronicSNV - 12/22 1
6-39510578-T-A c.1426+1753A>T - IntronicSNV - 12/22 1
6-39510750-T-C c.1426+1581A>G - IntronicSNV - 12/22 1
6-39510775-C-T c.1426+1556G>A - IntronicSNV - 12/22 1
6-39511054-C-G c.1426+1277G>C - IntronicSNV - 12/22 1
6-39512337-C-A c.1420G>T p.E474* Nonsense 12/23 - 1
6-39512337-C-T c.1420G>A p.E474K Missense 12/23 - 19
6-39512347-C-T c.1410G>A p.Q470= Synonymous 12/23 - 2
6-39512353-C-T c.1404G>A p.L468= Synonymous 12/23 - 4
6-39512358-T-C c.1399A>G p.I467V Missense 12/23 - 1
6-39512358-T-G c.1399A>C p.I467L Missense 12/23 - 1
6-39512363-C-T c.1394G>A p.R465Q Missense 12/23 - 2
6-39512380-T-C c.1377A>G p.E459= Synonymous 12/23 - 1
6-39512381-T-A c.1376A>T p.E459V Missense 12/23 - 1
6-39512382-C-G c.1375G>C p.E459Q Missense 12/23 - 1
6-39512382-C-T c.1375G>A p.E459K Missense 12/23 - 1
6-39512376-ATTC-A c.1378_1380del p.E460del InFrameDeletion 12/23 - 1
6-39512385-C-G c.1372G>C p.E458Q Missense 12/23 - 1
6-39512386-T-C c.1371A>G p.K457= Synonymous 12/23 - 1
6-39512390-A-T c.1367T>A p.L456* Nonsense 12/23 - 1
6-39512397-C-A c.1360G>T p.E454* Nonsense 12/23 - 2
6-39512397-C-G c.1360G>C p.E454Q Missense 12/23 - 1
6-39512402-C-T c.1355G>A p.C452Y Missense 12/23 - 1
6-39512405-T-C c.1352A>G p.D451G Missense 12/23 - 1
6-39512416-G-A c.1341C>T p.S447= Synonymous 12/23 - 1
6-39512418-T-C c.1339A>G p.S447G Missense 12/23 - 1
6-39512423-G-T c.1334C>A p.S445Y Missense 12/23 - 1
6-39512437-G-C c.1320C>G p.N440K Missense 12/23 - 1
6-39512437-G-T c.1320C>A p.N440K Missense 12/23 - 1
6-39512442-C-A c.1315G>T p.E439* Nonsense 12/23 - 1
6-39512445-G-A c.1312C>T p.L438F Missense 12/23 - 1
6-39512446-G-A c.1311C>T p.I437= Synonymous 12/23 - 4
6-39512449-C-T c.1308G>A p.K436= Synonymous 12/23 - 1
6-39512465-A-G c.1292T>C p.L431P Missense 12/23 - 1
6-39512510-C-T c.1288-41G>A - IntronicSNV - 11/22 1
6-39512872-T-A c.1288-403A>T - IntronicSNV - 11/22 1
6-39512989-A-G c.1287+370T>C - IntronicSNV - 11/22 1
6-39513094-A-T c.1287+265T>A - IntronicSNV - 11/22 1
6-39513251-C-T c.1287+108G>A - IntronicSNV - 11/22 1
6-39513343-A-C c.1287+16T>G - IntronicSNV - 11/22 4
6-39513359-C-T c.1287G>A p.K429= Synonymous 11/23 - 2
6-39513367-G-A c.1279C>T p.H427Y Missense 11/23 - 1
6-39513367-G-T c.1279C>A p.H427N Missense 11/23 - 1
6-39513370-G-A c.1276C>T p.H426Y Missense 11/23 - 2
6-39513372-A-G c.1274T>C p.F425S Missense 11/23 - 1
6-39513373-A-C c.1273T>G p.F425V Missense 11/23 - 1
6-39513375-C-T c.1271G>A p.C424Y Missense 11/23 - 1
6-39513376-A-C c.1270T>G p.C424G Missense 11/23 - 1
6-39513377-G-C c.1269C>G p.H423Q Missense 11/23 - 2
6-39513377-G-T c.1269C>A p.H423Q Missense 11/23 - 1
6-39513377-GTGATGAACTT-G c.1259_1268del p.K420Tfs*6 Frameshift 11/23 - 1
6-39513382-G-A c.1264C>T p.H422Y Missense 11/23 - 1
6-39513388-T-C c.1258A>G p.K420E Missense 11/23 - 6
6-39513390-C-T c.1256G>A p.R419H Missense 11/23 - 8
6-39513391-G-A c.1255C>T p.R419C Missense 11/23 - 3
6-39513391-G-T c.1255C>A p.R419S Missense 11/23 - 1
6-39513397-C-G c.1249G>C p.D417H Missense 11/23 - 5
6-39513397-C-T c.1249G>A p.D417N Missense 11/23 - 1
6-39513398-C-A c.1248G>T p.A416= Synonymous 11/23 - 1
6-39513398-C-G c.1248G>C p.A416= Synonymous 11/23 - 3
6-39513398-C-T c.1248G>A p.A416= Synonymous 11/23 - 6
6-39513399-G-A c.1247C>T p.A416V Missense 11/23 - 3
6-39513400-C-A c.1246G>T p.A416S Missense 11/23 - 1
6-39513400-C-T c.1246G>A p.A416T Missense 11/23 - 5
6-39513401-G-A c.1245C>T p.G415= Synonymous 11/23 - 2
6-39513401-G-C c.1245C>G p.G415= Synonymous 11/23 - 1
6-39513401-G-T c.1245C>A p.G415= Synonymous 11/23 - 1
6-39513402-C-G c.1244G>C p.G415A Missense 11/23 - 1
6-39513404-A-C c.1242T>G p.V414= Synonymous 11/23 - 2
6-39513407-C-A c.1239G>T p.E413D Missense 11/23 - 1
6-39513407-C-G c.1239G>C p.E413D Missense 11/23 - 1
6-39513410-T-C c.1236A>G p.L412= Synonymous 11/23 - 2
6-39513412-A-G c.1234T>C p.L412= Synonymous 11/23 - 1
6-39513417-C-T c.1229G>A p.S410N Missense 11/23 - 2
6-39513422-T-C c.1224A>G p.S408= Synonymous 11/23 - 1
6-39513422-T-G c.1224A>C p.S408= Synonymous 11/23 - 2
6-39513427-C-T c.1219G>A p.D407N Missense 11/23 - 5
6-39513428-C-A c.1218G>T p.Q406H Missense 11/23 - 1
6-39513428-C-G c.1218G>C p.Q406H Missense 11/23 - 1
6-39513431-G-A c.1215C>T p.D405= Synonymous 11/23 - 3
6-39513436-C-T c.1210G>A p.E404K Missense 11/23 - 1
6-39513440-A-C c.1206T>G p.F402L Missense 11/23 - 3
6-39513441-A-T c.1205T>A p.F402Y Missense 11/23 - 1
6-39513440-A-T c.1206T>A p.F402L Missense 11/23 - 2
6-39513442-A-G c.1204T>C p.F402L Missense 11/23 - 2
6-39513443-G-A c.1203C>T p.S401= Synonymous 11/23 - 1
6-39513443-G-C c.1203C>G p.S401= Synonymous 11/23 - 1
6-39513443-G-T c.1203C>A p.S401= Synonymous 11/23 - 2
6-39513447-G-A c.1199C>T p.T400I Missense 11/23 - 1
6-39513448-T-C c.1198A>G p.T400A Missense 11/23 - 1
6-39513448-T-G c.1198A>C p.T400P Missense 11/23 - 1
6-39513450-A-T c.1196T>A p.I399K Missense 11/23 - 4
6-39513451-T-C c.1195A>G p.I399V Missense 11/23 - 1
6-39513453-TA-T c.1193del p.L398Qfs*2 Frameshift 11/23 - 1
6-39513460-C-G c.1186G>C p.E396Q Missense 11/23 - 4
6-39513481-T-C c.1182-17A>G - IntronicSNV - 10/22 2
6-39513618-A-G c.1182-154T>C - IntronicSNV - 10/22 2
6-39514021-T-G c.1182-557A>C - IntronicSNV - 10/22 1
6-39514888-A-G c.1182-1424T>C - IntronicSNV - 10/22 1
6-39514978-G-C c.1182-1514C>G - IntronicSNV - 10/22 1
6-39515012-T-G c.1182-1548A>C - IntronicSNV - 10/22 1
6-39515340-C-T c.1182-1876G>A - IntronicSNV - 10/22 1
6-39515418-C-A c.1182-1954G>T - IntronicSNV - 10/22 1
6-39516611-A-G c.1182-3147T>C - IntronicSNV - 10/22 1
6-39516778-T-C c.1182-3314A>G - IntronicSNV - 10/22 1
6-39517490-G-A c.1182-4026C>T - IntronicSNV - 10/22 2
6-39517490-G-C c.1182-4026C>G - IntronicSNV - 10/22 2
6-39517490-G-T c.1182-4026C>A - IntronicSNV - 10/22 2
6-39517596-C-T c.1182-4132G>A - IntronicSNV - 10/22 1
6-39517606-T-G c.1182-4142A>C - IntronicSNV - 10/22 1
6-39517971-A-G c.1182-4507T>C - IntronicSNV - 10/22 1
6-39518016-C-A c.1182-4552G>T - IntronicSNV - 10/22 1
6-39518036-A-G c.1182-4572T>C - IntronicSNV - 10/22 1
6-39518610-T-C c.1182-5146A>G - IntronicSNV - 10/22 1
6-39519722-C-T c.1182-6258G>A - IntronicSNV - 10/22 1
6-39519857-G-A c.1182-6393C>T - IntronicSNV - 10/22 1
6-39520106-T-C c.1182-6642A>G - IntronicSNV - 10/22 1
6-39520836-T-G c.1182-7372A>C - IntronicSNV - 10/22 1
6-39520900-A-G c.1182-7436T>C - IntronicSNV - 10/22 1
6-39521430-G-A c.1182-7966C>T - IntronicSNV - 10/22 1
6-39522376-G-A c.1182-8912C>T - IntronicSNV - 10/22 1
6-39522626-T-C c.1182-9162A>G - IntronicSNV - 10/22 1
6-39522626-T-G c.1182-9162A>C - IntronicSNV - 10/22 1
6-39523038-G-A c.1182-9574C>T - IntronicSNV - 10/22 1
6-39523281-G-T c.1182-9817C>A - IntronicSNV - 10/22 1
6-39523498-G-A c.1182-10034C>T - IntronicSNV - 10/22 1
6-39523670-C-A c.1182-10206G>T - IntronicSNV - 10/22 1
6-39523670-C-G c.1182-10206G>C - IntronicSNV - 10/22 1
6-39523670-C-T c.1182-10206G>A - IntronicSNV - 10/22 1
6-39523837-C-A c.1182-10373G>T - IntronicSNV - 10/22 1
6-39523837-C-T c.1182-10373G>A - IntronicSNV - 10/22 1
6-39524001-C-A c.1182-10537G>T - IntronicSNV - 10/22 1
6-39524197-C-A c.1182-10733G>T - IntronicSNV - 10/22 1
6-39524443-G-GA c.1182-10980dup - IntronicInsertion - 10/22 1
6-39524766-T-C c.1182-11302A>G - IntronicSNV - 10/22 1
6-39524844-T-C c.1182-11380A>G - IntronicSNV - 10/22 1
6-39524989-A-G c.1182-11525T>C - IntronicSNV - 10/22 1
6-39525066-G-A c.1182-11602C>T - IntronicSNV - 10/22 1
6-39525499-G-A c.1182-12035C>T - IntronicSNV - 10/22 1
6-39525721-T-C c.1182-12257A>G - IntronicSNV - 10/22 1
6-39525933-T-C c.1182-12469A>G - IntronicSNV - 10/22 1
6-39526183-T-A c.1182-12719A>T - IntronicSNV - 10/22 1
6-39526509-C-G c.1182-13045G>C - IntronicSNV - 10/22 1
6-39526867-A-G c.1182-13403T>C - IntronicSNV - 10/22 4
6-39526895-T-C c.1182-13431A>G - IntronicSNV - 10/22 1
6-39528068-T-C c.1182-14604A>G - IntronicSNV - 10/22 1
6-39528090-A-T c.1182-14626T>A - IntronicSNV - 10/22 1
6-39528248-G-C c.1182-14784C>G - IntronicSNV - 10/22 1
6-39528353-T-C c.1182-14889A>G - IntronicSNV - 10/22 1
6-39528952-T-C c.1182-15488A>G - IntronicSNV - 10/22 1
6-39528982-G-A c.1182-15518C>T - IntronicSNV - 10/22 2
6-39529244-A-C c.1182-15780T>G - IntronicSNV - 10/22 1
6-39529244-A-G c.1182-15780T>C - IntronicSNV - 10/22 1
6-39529335-T-C c.1182-15871A>G - IntronicSNV - 10/22 1
6-39529692-G-A c.1181+16140C>T - IntronicSNV - 10/22 1
6-39529939-C-G c.1181+15893G>C - IntronicSNV - 10/22 1
6-39530118-T-C c.1181+15714A>G - IntronicSNV - 10/22 1
6-39530212-C-A c.1181+15620G>T - IntronicSNV - 10/22 1
6-39530259-G-A c.1181+15573C>T - IntronicSNV - 10/22 1
6-39530259-G-C c.1181+15573C>G - IntronicSNV - 10/22 1
6-39530428-A-G c.1181+15404T>C - IntronicSNV - 10/22 2
6-39530465-C-A c.1181+15367G>T - IntronicSNV - 10/22 1
6-39530498-A-C c.1181+15334T>G - IntronicSNV - 10/22 1
6-39530498-A-G c.1181+15334T>C - IntronicSNV - 10/22 1
6-39530498-A-T c.1181+15334T>A - IntronicSNV - 10/22 1
6-39530561-A-T c.1181+15271T>A - IntronicSNV - 10/22 1
6-39531472-A-T c.1181+14360T>A - IntronicSNV - 10/22 1
6-39531474-T-A c.1181+14358A>T - IntronicSNV - 10/22 1
6-39531674-C-T c.1181+14158G>A - IntronicSNV - 10/22 1
6-39531686-A-G c.1181+14146T>C - IntronicSNV - 10/22 1
6-39531696-C-A c.1181+14136G>T - IntronicSNV - 10/22 1
6-39532439-G-A c.1181+13393C>T - IntronicSNV - 10/22 1
6-39532647-C-T c.1181+13185G>A - IntronicSNV - 10/22 1
6-39532876-C-A c.1181+12956G>T - IntronicSNV - 10/22 1
6-39532876-C-T c.1181+12956G>A - IntronicSNV - 10/22 1
6-39532926-C-T c.1181+12906G>A - IntronicSNV - 10/22 1
6-39533720-T-A c.1181+12112A>T - IntronicSNV - 10/22 1
6-39534076-A-T c.1181+11756T>A - IntronicSNV - 10/22 1
6-39534972-G-T c.1181+10860C>A - IntronicSNV - 10/22 1
6-39535011-C-G c.1181+10821G>C - IntronicSNV - 10/22 1
6-39535223-A-G c.1181+10609T>C - IntronicSNV - 10/22 1
6-39535435-G-A c.1181+10397C>T - IntronicSNV - 10/22 1
6-39535444-C-T c.1181+10388G>A - IntronicSNV - 10/22 1
6-39535447-T-G c.1181+10385A>C - IntronicSNV - 10/22 1
6-39535512-T-C c.1181+10320A>G - IntronicSNV - 10/22 1
6-39535678-T-C c.1181+10154A>G - IntronicSNV - 10/22 1
6-39535876-G-A c.1181+9956C>T - IntronicSNV - 10/22 1
6-39535905-C-T c.1181+9927G>A - IntronicSNV - 10/22 1
6-39535958-C-T c.1181+9874G>A - IntronicSNV - 10/22 1
6-39536006-G-A c.1181+9826C>T - IntronicSNV - 10/22 1
6-39536006-G-C c.1181+9826C>G - IntronicSNV - 10/22 1
6-39536006-G-T c.1181+9826C>A - IntronicSNV - 10/22 1
6-39536576-G-A c.1181+9256C>T - IntronicSNV - 10/22 1
6-39536576-G-C c.1181+9256C>G - IntronicSNV - 10/22 1
6-39536576-G-T c.1181+9256C>A - IntronicSNV - 10/22 1
6-39536622-T-C c.1181+9210A>G - IntronicSNV - 10/22 1
6-39537170-T-C c.1181+8662A>G - IntronicSNV - 10/22 1
6-39537316-A-C c.1181+8516T>G - IntronicSNV - 10/22 1
6-39537469-C-G c.1181+8363G>C - IntronicSNV - 10/22 1
6-39537580-T-G c.1181+8252A>C - IntronicSNV - 10/22 1
6-39537880-T-C c.1181+7952A>G - IntronicSNV - 10/22 1
6-39538657-C-A c.1181+7175G>T - IntronicSNV - 10/22 1
6-39538793-C-A c.1181+7039G>T - IntronicSNV - 10/22 1
6-39538793-C-T c.1181+7039G>A - IntronicSNV - 10/22 1
6-39539207-C-T c.1181+6625G>A - IntronicSNV - 10/22 2
6-39539617-G-C c.1181+6215C>G - IntronicSNV - 10/22 1
6-39539830-G-A c.1181+6002C>T - IntronicSNV - 10/22 1
6-39540311-C-A c.1181+5521G>T - IntronicSNV - 10/22 1
6-39540344-C-T c.1181+5488G>A - IntronicSNV - 10/22 1
6-39540793-G-A c.1181+5039C>T - IntronicSNV - 10/22 1
6-39541003-T-C c.1181+4829A>G - IntronicSNV - 10/22 1
6-39541009-G-A c.1181+4823C>T - IntronicSNV - 10/22 1
6-39541296-T-C c.1181+4536A>G - IntronicSNV - 10/22 1
6-39541315-G-T c.1181+4517C>A - IntronicSNV - 10/22 1
6-39541357-C-T c.1181+4475G>A - IntronicSNV - 10/22 1
6-39541449-A-G c.1181+4383T>C - IntronicSNV - 10/22 1
6-39541624-G-C c.1181+4208C>G - IntronicSNV - 10/22 1
6-39541908-A-G c.1181+3924T>C - IntronicSNV - 10/22 1
6-39542154-G-T c.1181+3678C>A - IntronicSNV - 10/22 1
6-39542280-G-A c.1181+3552C>T - IntronicSNV - 10/22 1
6-39542496-T-G c.1181+3336A>C - IntronicSNV - 10/22 1
6-39542581-T-C c.1181+3251A>G - IntronicSNV - 10/22 1
6-39542940-A-T c.1181+2892T>A - IntronicSNV - 10/22 1
6-39542989-A-G c.1181+2843T>C - IntronicSNV - 10/22 1
6-39542989-A-T c.1181+2843T>A - IntronicSNV - 10/22 1
6-39543014-G-A c.1181+2818C>T - IntronicSNV - 10/22 1
6-39543054-T-A c.1181+2778A>T - IntronicSNV - 10/22 1
6-39543085-T-A c.1181+2747A>T - IntronicSNV - 10/22 2
6-39543085-T-C c.1181+2747A>G - IntronicSNV - 10/22 2
6-39543094-C-T c.1181+2738G>A - IntronicSNV - 10/22 1
6-39543313-T-C c.1181+2519A>G - IntronicSNV - 10/22 1
6-39543336-A-G c.1181+2496T>C - IntronicSNV - 10/22 1
6-39543452-C-T c.1181+2380G>A - IntronicSNV - 10/22 1
6-39543463-C-T c.1181+2369G>A - IntronicSNV - 10/22 1
6-39543565-C-A c.1181+2267G>T - IntronicSNV - 10/22 1
6-39543708-C-T c.1181+2124G>A - IntronicSNV - 10/22 1
6-39543786-A-G c.1181+2046T>C - IntronicSNV - 10/22 1
6-39543794-T-C c.1181+2038A>G - IntronicSNV - 10/22 1
6-39544710-A-G c.1181+1122T>C - IntronicSNV - 10/22 1
6-39544831-A-C c.1181+1001T>G - IntronicSNV - 10/22 1
6-39545218-T-C c.1181+614A>G - IntronicSNV - 10/22 1
6-39545450-T-C c.1181+382A>G - IntronicSNV - 10/22 2
6-39545566-C-A c.1181+266G>T - IntronicSNV - 10/22 1
6-39545689-T-G c.1181+143A>C - IntronicSNV - 10/22 3
6-39545809-G-GA c.1181+22dup - IntronicInsertion - 10/22 1
6-39545839-G-A c.1174C>T p.L392F Missense 10/23 - 4
6-39545840-C-G c.1173G>C p.E391D Missense 10/23 - 1
6-39545844-G-A c.1169C>T p.A390V Missense 10/23 - 2
6-39545845-C-T c.1168G>A p.A390T Missense 10/23 - 1
6-39545848-C-A c.1165G>T p.E389* Nonsense 10/23 - 1
6-39545856-G-T c.1157C>A p.A386E Missense 10/23 - 3
6-39545857-C-T c.1156G>A p.A386T Missense 10/23 - 1
6-39545860-C-G c.1153G>C p.E385Q Missense 10/23 - 1
6-39545862-G-A c.1151C>T p.T384I Missense 10/23 - 1
6-39545865-C-A c.1148G>T p.R383M Missense 10/23 - 3
6-39545867-C-A c.1146G>T p.Q382H Missense 10/23 - 1
6-39545867-C-G c.1146G>C p.Q382H Missense 10/23 - 1
6-39545872-C-A c.1141G>T p.E381* Nonsense 10/23 - 1
6-39545872-C-T c.1141G>A p.E381K Missense 10/23 - 2
6-39545873-C-A c.1140G>T p.G380= Synonymous 10/23 - 1
6-39545873-C-G c.1140G>C p.G380= Synonymous 10/23 - 1
6-39545873-C-T c.1140G>A p.G380= Synonymous 10/23 - 1
6-39545876-A-C c.1137T>G p.T379= Synonymous 10/23 - 1
6-39545876-A-G c.1137T>C p.T379= Synonymous 10/23 - 1
6-39545876-A-T c.1137T>A p.T379= Synonymous 10/23 - 1
6-39545879-GACCATGGCC-G c.1125_1133del p.A376_V378del InFrameDeletion 10/23 - 1
6-39545882-C-T c.1131G>A p.M377I Missense 10/23 - 1
6-39545884-T-C c.1129A>G p.M377V Missense 10/23 - 3
6-39545885-G-A c.1128C>T p.A376= Synonymous 10/23 - 1
6-39545885-G-C c.1128C>G p.A376= Synonymous 10/23 - 1
6-39545885-G-T c.1128C>A p.A376= Synonymous 10/23 - 1
6-39545887-C-A c.1126G>T p.A376S Missense 10/23 - 1
6-39545895-T-A c.1118A>T p.D373V Missense 10/23 - 2
6-39545896-C-T c.1117G>A p.D373N Missense 10/23 - 1
6-39545902-G-T c.1111C>A p.L371M Missense 10/23 - 2
6-39545909-G-A c.1104C>T p.I368= Synonymous 10/23 - 2
6-39545909-G-T c.1104C>A p.I368= Synonymous 10/23 - 1
6-39545914-C-CA c.1098_1099insT p.E367* Nonsense 10/23 - 2
6-39545914-C-T c.1099G>A p.E367K Missense 10/23 - 8
6-39545913-TC-T c.1099del p.E367Kfs*5 Frameshift 10/23 - 1
6-39545916-T-C c.1097A>G p.K366R Missense 10/23 - 2
6-39545920-G-T c.1093C>A p.Q365K Missense 10/23 - 4
6-39545926-G-A c.1087C>T p.R363C Missense 10/23 - 1
6-39545932-T-C c.1081A>G p.I361V Missense 10/23 - 1
6-39545935-C-T c.1078G>A p.V360M Missense 10/23 - 1
6-39545963-T-C c.1078-28A>G - IntronicSNV - 9/22 1
6-39546356-C-G c.1078-421G>C - IntronicSNV - 9/22 1
6-39546356-C-T c.1078-421G>A - IntronicSNV - 9/22 1
6-39546420-T-A c.1078-485A>T - IntronicSNV - 9/22 1
6-39547279-T-A c.1078-1344A>T - IntronicSNV - 9/22 1
6-39547279-T-G c.1078-1344A>C - IntronicSNV - 9/22 1
6-39547428-A-T c.1078-1493T>A - IntronicSNV - 9/22 1
6-39548045-A-G c.1078-2110T>C - IntronicSNV - 9/22 1
6-39549097-C-A c.1078-3162G>T - IntronicSNV - 9/22 1
6-39549223-C-A c.1078-3288G>T - IntronicSNV - 9/22 1
6-39549223-C-T c.1078-3288G>A - IntronicSNV - 9/22 1
6-39549233-G-A c.1078-3298C>T - IntronicSNV - 9/22 1
6-39549399-C-G c.1077+3275G>C - IntronicSNV - 9/22 1
6-39549599-G-A c.1077+3075C>T - IntronicSNV - 9/22 1
6-39549599-G-T c.1077+3075C>A - IntronicSNV - 9/22 1
6-39549819-T-C c.1077+2855A>G - IntronicSNV - 9/22 1
6-39549841-T-C c.1077+2833A>G - IntronicSNV - 9/22 1
6-39549844-A-G c.1077+2830T>C - IntronicSNV - 9/22 1
6-39550084-T-C c.1077+2590A>G - IntronicSNV - 9/22 1
6-39550197-C-T c.1077+2477G>A - IntronicSNV - 9/22 1
6-39550256-C-T c.1077+2418G>A - IntronicSNV - 9/22 1
6-39550379-T-C c.1077+2295A>G - IntronicSNV - 9/22 1
6-39550461-G-T c.1077+2213C>A - IntronicSNV - 9/22 1
6-39550573-C-T c.1077+2101G>A - IntronicSNV - 9/22 1
6-39550935-C-A c.1077+1739G>T - IntronicSNV - 9/22 2
6-39551306-TC-T c.1077+1367del - IntronicDeletion - 9/22 1
6-39551489-A-G c.1077+1185T>C - IntronicSNV - 9/22 1
6-39551924-G-A c.1077+750C>T - IntronicSNV - 9/22 1
6-39551924-G-T c.1077+750C>A - IntronicSNV - 9/22 1
6-39552074-T-C c.1077+600A>G - IntronicSNV - 9/22 1
6-39552217-A-G c.1077+457T>C - IntronicSNV - 9/22 1
6-39552235-A-C c.1077+439T>G - IntronicSNV - 9/22 1
6-39552324-A-G c.1077+350T>C - IntronicSNV - 9/22 1
6-39552398-T-C c.1077+276A>G - IntronicSNV - 9/22 2
6-39552673-C-T c.1077+1G>A - IntronicSNV - 9/22 1
6-39552678-C-A c.1073G>T p.R358I Missense 9/23 - 1
6-39552684-T-G c.1067A>C p.N356T Missense 9/23 - 1
6-39552687-A-G c.1064T>C p.I355T Missense 9/23 - 1
6-39552692-T-A c.1059A>T p.E353D Missense 9/23 - 1
6-39552692-T-C c.1059A>G p.E353= Synonymous 9/23 - 3
6-39552692-T-G c.1059A>C p.E353D Missense 9/23 - 6
6-39552693-T-A c.1058A>T p.E353V Missense 9/23 - 1
6-39552694-C-T c.1057G>A p.E353K Missense 9/23 - 3
6-39552700-G-A c.1051C>T p.L351F Missense 9/23 - 3
6-39552700-G-C c.1051C>G p.L351V Missense 9/23 - 1
6-39552713-C-T c.1038G>A p.K346= Synonymous 9/23 - 1
6-39552719-G-A c.1032C>T p.L344= Synonymous 9/23 - 1
6-39552724-C-T c.1027G>A p.A343T Missense 9/23 - 2
6-39552725-C-T c.1026G>A p.V342= Synonymous 9/23 - 1
6-39552729-C-G c.1022G>C p.R341P Missense 9/23 - 5
6-39552730-G-A c.1021C>T p.R341* Nonsense 9/23 - 2
6-39552732-T-C c.1019A>G p.Q340R Missense 9/23 - 2
6-39552735-G-A c.1016C>T p.A339V Missense 9/23 - 1
6-39552735-TGCAA-T c.1013_1016del p.F338Yfs*7 Frameshift 9/23 - 1
6-39552740-TCT-ACA c.1009_1011delinsTGT p.R337C Missense 9/23 - 2
6-39552740-TCT-ATG c.1009_1011delinsCAT p.R337H Missense 9/23 - 1
6-39552745-A-T c.1006T>A p.C336S Missense 9/23 - 1
6-39552750-G-C c.1001C>G p.S334* Nonsense 9/23 - 1
6-39552750-G-T c.1001C>A p.S334* Nonsense 9/23 - 1
6-39552752-T-C c.999A>G p.I333M Missense 9/23 - 1
6-39552754-T-C c.997A>G p.I333V Missense 9/23 - 1
6-39552755-A-C c.996T>G p.S332= Synonymous 9/23 - 1
6-39552755-A-G c.996T>C p.S332= Synonymous 9/23 - 1
6-39552755-A-T c.996T>A p.S332= Synonymous 9/23 - 1
6-39552756-G-C c.995C>G p.S332C Missense 9/23 - 1
6-39552758-C-T c.993G>A p.E331= Synonymous 9/23 - 2
6-39553246-A-G c.991-486T>C - IntronicSNV - 8/22 1
6-39553246-A-T c.991-486T>A - IntronicSNV - 8/22 1
6-39553415-T-C c.990+622A>G - IntronicSNV - 8/22 1
6-39553485-T-A c.990+552A>T - IntronicSNV - 8/22 1
6-39553485-T-C c.990+552A>G - IntronicSNV - 8/22 1
6-39554039-C-A c.988G>T p.D330Y Missense 8/23 - 2
6-39554039-C-T c.988G>A p.D330N Missense 8/23 - 1
6-39554045-T-C c.982A>G p.N328D Missense 8/23 - 1
6-39554046-CCT-ACA c.979_981delinsTGT p.R327C Missense 8/23 - 1
6-39554047-CT-AG c.979_980inv p.R327L Missense 8/23 - 1
6-39554048-T-C c.979A>G p.R327G Missense 8/23 - 1
6-39554052-C-A c.975G>T p.E325D Missense 8/23 - 1
6-39554052-C-G c.975G>C p.E325D Missense 8/23 - 1
6-39554057-A-C c.970T>G p.L324V Missense 8/23 - 1
6-39554057-A-T c.970T>A p.L324M Missense 8/23 - 1
6-39554059-G-A c.968C>T p.S323F Missense 8/23 - 1
6-39554063-G-T c.964C>A p.L322I Missense 8/23 - 1
6-39554065-G-A c.962C>T p.T321I Missense 8/23 - 1
6-39554068-G-T c.959C>A p.A320E Missense 8/23 - 1
6-39554069-C-T c.958G>A p.A320T Missense 8/23 - 1
6-39554073-C-A c.954G>T p.M318I Missense 8/23 - 1
6-39554073-C-G c.954G>C p.M318I Missense 8/23 - 1
6-39554073-C-T c.954G>A p.M318I Missense 8/23 - 1
6-39554074-A-ATT c.952_953insAA p.M318Kfs*2 Frameshift 8/23 - 1
6-39554075-T-TGC c.951_952insGC p.M318Afs*2 Frameshift 8/23 - 1
6-39554076-AG-CA c.950_951delinsTG p.T317M Missense 8/23 - 1
6-39554086-C-G c.941G>C p.C314S Missense 8/23 - 1
6-39554092-C-T c.935G>A p.G312E Missense 8/23 - 1
6-39554094-T-A c.933A>T p.G311= Synonymous 8/23 - 1
6-39554094-T-C c.933A>G p.G311= Synonymous 8/23 - 1
6-39554094-T-G c.933A>C p.G311= Synonymous 8/23 - 1
6-39554095-C-T c.932G>A p.G311E Missense 8/23 - 3
6-39554098-A-G c.929T>C p.L310S Missense 8/23 - 1
6-39554101-C-T c.926G>A p.S309N Missense 8/23 - 1
6-39554104-T-C c.923A>G p.D308G Missense 8/23 - 1
6-39554105-C-T c.922G>A p.D308N Missense 8/23 - 5
6-39554107-C-A c.920G>T p.R307I Missense 8/23 - 1
6-39554108-T-C c.919A>G p.R307G Missense 8/23 - 2
6-39554109-TAG-CCA c.916_918delinsTGG p.L306W Missense 8/23 - 1
6-39554114-C-A c.913G>T p.V305F Missense 8/23 - 1
6-39554114-C-T c.913G>A p.V305I Missense 8/23 - 1
6-39554118-G-A c.909C>T p.T303= Synonymous 8/23 - 1
6-39554118-G-C c.909C>G p.T303= Synonymous 8/23 - 1
6-39554118-GG-CA c.908_909delinsTG p.T303M Missense 8/23 - 1
6-39554118-G-T c.909C>A p.T303= Synonymous 8/23 - 1
6-39554119-G-A c.908C>T p.T303I Missense 8/23 - 1
6-39554120-T-A c.907A>T p.T303S Missense 8/23 - 1
6-39554121-C-A c.906G>T p.M302I Missense 8/23 - 2
6-39554121-C-G c.906G>C p.M302I Missense 8/23 - 2
6-39554121-C-T c.906G>A p.M302I Missense 8/23 - 3
6-39554122-A-T c.905T>A p.M302K Missense 8/23 - 1
6-39554124-C-A c.903G>T p.M301I Missense 8/23 - 1
6-39554124-C-G c.903G>C p.M301I Missense 8/23 - 1
6-39554124-C-T c.903G>A p.M301I Missense 8/23 - 6
6-39554125-A-G c.902T>C p.M301T Missense 8/23 - 1
6-39554128-G-A c.899C>T p.S300F Missense 8/23 - 2
6-39554139-A-C c.888T>G p.P296= Synonymous 8/23 - 1
6-39554139-A-G c.888T>C p.P296= Synonymous 8/23 - 1
6-39554139-A-T c.888T>A p.P296= Synonymous 8/23 - 1
6-39554141-G-A c.886C>T p.P296S Missense 8/23 - 6
6-39554141-G-T c.886C>A p.P296T Missense 8/23 - 1
6-39554143-A-C c.884T>G p.I295S Missense 8/23 - 1
6-39554145-G-A c.882C>T p.H294= Synonymous 8/23 - 1
6-39554147-G-A c.880C>T p.H294Y Missense 8/23 - 1
6-39554149-G-A c.878C>T p.S293L Missense 8/23 - 1
6-39554152-C-T c.875G>A p.R292H Missense 8/23 - 4
6-39554153-G-A c.874C>T p.R292C Missense 8/23 - 1
6-39554153-G-T c.874C>A p.R292S Missense 8/23 - 1
6-39554154-G-A c.873C>T p.H291= Synonymous 8/23 - 1
6-39554155-T-C c.872A>G p.H291R Missense 8/23 - 1
6-39554156-G-C c.871C>G p.H291D Missense 8/23 - 1
6-39554162-C-A c.865G>T p.E289* Nonsense 8/23 - 1
6-39554163-T-A c.864A>T p.S288= Synonymous 8/23 - 1
6-39554163-T-C c.864A>G p.S288= Synonymous 8/23 - 1
6-39554163-T-G c.864A>C p.S288= Synonymous 8/23 - 1
6-39554174-T-C c.853A>G p.I285V Missense 8/23 - 9
6-39554175-G-A c.852C>T p.I284= Synonymous 8/23 - 2
6-39554175-G-T c.852C>A p.I284= Synonymous 8/23 - 3
6-39554178-A-G c.849T>C p.V283= Synonymous 8/23 - 4
6-39554179-A-T c.848T>A p.V283D Missense 8/23 - 1
6-39554294-G-A c.847-114C>T - IntronicSNV - 7/22 2
6-39554601-C-T c.847-421G>A - IntronicSNV - 7/22 1
6-39554887-T-C c.847-707A>G - IntronicSNV - 7/22 1
6-39554898-T-C c.847-718A>G - IntronicSNV - 7/22 1
6-39554906-T-C c.847-726A>G - IntronicSNV - 7/22 1
6-39554906-T-G c.847-726A>C - IntronicSNV - 7/22 1
6-39555377-C-G c.847-1197G>C - IntronicSNV - 7/22 1
6-39555396-G-A c.847-1216C>T - IntronicSNV - 7/22 1
6-39555639-C-T c.847-1459G>A - IntronicSNV - 7/22 1
6-39556140-C-T c.847-1960G>A - IntronicSNV - 7/22 1
6-39556242-G-A c.847-2062C>T - IntronicSNV - 7/22 1
6-39556242-G-T c.847-2062C>A - IntronicSNV - 7/22 1
6-39556723-C-A c.847-2543G>T - IntronicSNV - 7/22 1
6-39556723-C-T c.847-2543G>A - IntronicSNV - 7/22 1
6-39557390-C-T c.847-3210G>A - IntronicSNV - 7/22 1
6-39557442-A-G c.847-3262T>C - IntronicSNV - 7/22 1
6-39557453-G-A c.847-3273C>T - IntronicSNV - 7/22 1
6-39557453-G-T c.847-3273C>A - IntronicSNV - 7/22 1
6-39558951-A-C c.847-4771T>G - IntronicSNV - 7/22 1
6-39558991-C-A c.847-4811G>T - IntronicSNV - 7/22 1
6-39558991-C-T c.847-4811G>A - IntronicSNV - 7/22 1
6-39559103-C-T c.846+4727G>A - IntronicSNV - 7/22 1
6-39559645-T-C c.846+4185A>G - IntronicSNV - 7/22 1
6-39559813-G-A c.846+4017C>T - IntronicSNV - 7/22 1
6-39559936-C-A c.846+3894G>T - IntronicSNV - 7/22 1
6-39560321-G-A c.846+3509C>T - IntronicSNV - 7/22 1
6-39560821-G-A c.846+3009C>T - IntronicSNV - 7/22 1
6-39560930-C-T c.846+2900G>A - IntronicSNV - 7/22 1
6-39561319-A-G c.846+2511T>C - IntronicSNV - 7/22 1
6-39561463-T-G c.846+2367A>C - IntronicSNV - 7/22 1
6-39563258-C-T c.846+572G>A - IntronicSNV - 7/22 1
6-39563512-C-A c.846+318G>T - IntronicSNV - 7/22 1
6-39563512-C-G c.846+318G>C - IntronicSNV - 7/22 1
6-39563512-C-T c.846+318G>A - IntronicSNV - 7/22 1
6-39563523-A-G c.846+307T>C - IntronicSNV - 7/22 1
6-39563730-C-T c.846+100G>A - IntronicSNV - 7/22 2
6-39563738-TA-T c.846+91del - IntronicDeletion - 7/22 2
6-39563777-G-A c.846+53C>T - IntronicSNV - 7/22 1
6-39563830-C-T c.846G>A p.Q282= Synonymous 7/23 - 1
6-39563833-T-A c.843A>T p.E281D Missense 7/23 - 1
6-39563833-T-G c.843A>C p.E281D Missense 7/23 - 1
6-39563834-T-C c.842A>G p.E281G Missense 7/23 - 1
6-39563841-A-C c.835T>G p.Y279D Missense 7/23 - 1
6-39563848-T-A c.828A>T p.S276= Synonymous 7/23 - 1
6-39563848-T-C c.828A>G p.S276= Synonymous 7/23 - 1
6-39563848-T-G c.828A>C p.S276= Synonymous 7/23 - 1
6-39563849-G-C c.827C>G p.S276* Nonsense 7/23 - 4
6-39563849-G-T c.827C>A p.S276* Nonsense 7/23 - 2
6-39563851-C-A c.825G>T p.L275F Missense 7/23 - 4
6-39563851-C-G c.825G>C p.L275F Missense 7/23 - 3
6-39563852-A-C c.824T>G p.L275W Missense 7/23 - 1
6-39563858-A-T c.818T>A p.I273N Missense 7/23 - 1
6-39563859-T-G c.817A>C p.I273L Missense 7/23 - 5
6-39563863-C-T c.813G>A p.K271= Synonymous 7/23 - 7
6-39563864-T-G c.812A>C p.K271T Missense 7/23 - 1
6-39563866-TGGCCTCTGTTAGAAGATGGCCCCCTACTCC-T c.781_810del p.G261_A270del InFrameDeletion 7/23 - 1
6-39563867-G-A c.809C>T p.A270V Missense 7/23 - 1
6-39563868-C-T c.808G>A p.A270T Missense 7/23 - 1
6-39563869-CCTCTGTT-C c.801_807del p.T268Pfs*11 Frameshift 7/23 - 1
6-39563871-C-T c.805G>A p.E269K Missense 7/23 - 1
6-39563874-T-G c.802A>C p.T268P Missense 7/23 - 1
6-39563876-A-C c.800T>G p.L267R Missense 7/23 - 1
6-39563877-G-A c.799C>T p.L267= Synonymous 7/23 - 1
6-39563884-G-A c.792C>T p.G264= Synonymous 7/23 - 3
6-39563884-G-C c.792C>G p.G264= Synonymous 7/23 - 2
6-39563884-G-T c.792C>A p.G264= Synonymous 7/23 - 2
6-39563885-C-T c.791G>A p.G264D Missense 7/23 - 1
6-39563886-C-T c.790G>A p.G264S Missense 7/23 - 2
6-39563888-C-T c.788G>A p.G263E Missense 7/23 - 2
6-39563894-C-A c.782G>T p.G261V Missense 7/23 - 1
6-39563895-C-A c.781G>T p.G261* Nonsense 7/23 - 2
6-39563898-T-G c.778A>C p.T260P Missense 7/23 - 2
6-39563899-C-G c.777G>C p.K259N Missense 7/23 - 1
6-39563908-TC-AT c.767_768delinsAT p.R256H Missense 7/23 - 1
6-39563909-C-T c.767G>A p.R256Q Missense 7/23 - 1
6-39563910-G-A c.766C>T p.R256* Nonsense 7/23 - 1
6-39563911-C-A c.765G>T p.E255D Missense 7/23 - 2
6-39563911-C-G c.765G>C p.E255D Missense 7/23 - 2
6-39563911-C-T c.765G>A p.E255= Synonymous 7/23 - 1
6-39563913-C-G c.763G>C p.E255Q Missense 7/23 - 2
6-39563915-G-A c.761C>T p.S254L Missense 7/23 - 1
6-39563919-C-A c.757G>T p.G253C Missense 7/23 - 1
6-39563919-C-T c.757G>A p.G253S Missense 7/23 - 1
6-39563923-C-A c.753G>T p.L251= Synonymous 7/23 - 1
6-39563923-C-G c.753G>C p.L251= Synonymous 7/23 - 1
6-39563923-C-T c.753G>A p.L251= Synonymous 7/23 - 1
6-39563925-G-A c.751C>T p.L251= Synonymous 7/23 - 1
6-39563927-T-G c.749A>C p.D250A Missense 7/23 - 1
6-39563928-C-T c.748G>A p.D250N Missense 7/23 - 2
6-39563930-A-G c.746T>C p.V249A Missense 7/23 - 1
6-39563934-G-T c.742C>A p.L248M Missense 7/23 - 1
6-39563936-T-A c.740A>T p.H247L Missense 7/23 - 1
6-39563937-G-A c.739C>T p.H247Y Missense 7/23 - 3
6-39563938-G-A c.738C>T p.L246= Synonymous 7/23 - 4
6-39563938-G-C c.738C>G p.L246= Synonymous 7/23 - 3
6-39563938-G-T c.738C>A p.L246= Synonymous 7/23 - 4
6-39563941-T-C c.735A>G p.K245= Synonymous 7/23 - 1
6-39563942-T-G c.734A>C p.K245T Missense 7/23 - 1
6-39563945-G-T c.731C>A p.A244D Missense 7/23 - 1
6-39563946-C-A c.730G>T p.A244S Missense 7/23 - 1
6-39563946-C-T c.730G>A p.A244T Missense 7/23 - 1
6-39563949-G-A c.727C>T p.H243Y Missense 7/23 - 1
6-39563951-C-T c.725G>A p.R242Q Missense 7/23 - 5
6-39563952-G-A c.724C>T p.R242* Nonsense 7/23 - 6
6-39563952-G-C c.724C>G p.R242G Missense 7/23 - 1
6-39563954-A-G c.722T>C p.V241A Missense 7/23 - 1
6-39563957-G-A c.719C>T p.T240I Missense 7/23 - 1
6-39563965-T-A c.711A>T p.G237= Synonymous 7/23 - 1
6-39563972-T-C c.704A>G p.E235G Missense 7/23 - 1
6-39563976-T-G c.700A>C p.K234Q Missense 7/23 - 2
6-39563980-TG-AA c.695_696delinsTT p.S232F Missense 7/23 - 1
6-39563981-G-A c.695C>T p.S232L Missense 7/23 - 5
6-39563985-A-C c.691T>G p.L231V Missense 7/23 - 1
6-39563988-G-A c.688C>T p.H230Y Missense 7/23 - 3
6-39563989-A-G c.687T>C p.I229= Synonymous 7/23 - 2
6-39563989-A-T c.687T>A p.I229= Synonymous 7/23 - 1
6-39563993-G-A c.683C>T p.T228I Missense 7/23 - 5
6-39563995-G-A c.681C>T p.F227= Synonymous 7/23 - 1
6-39563995-G-C c.681C>G p.F227L Missense 7/23 - 1
6-39563995-G-T c.681C>A p.F227L Missense 7/23 - 1
6-39563997-A-G c.679T>C p.F227L Missense 7/23 - 1
6-39564004-G-C c.672C>G p.H224Q Missense 7/23 - 1
6-39564004-G-T c.672C>A p.H224Q Missense 7/23 - 1
6-39564006-GG-TA c.669_670delinsTA p.H224N Missense 7/23 - 1
6-39564007-G-A c.669C>T p.S223= Synonymous 7/23 - 1
6-39564008-G-A c.668C>T p.S223F Missense 7/23 - 1
6-39564008-G-C c.668C>G p.S223C Missense 7/23 - 1
6-39564010-A-T c.666T>A p.R222= Synonymous 7/23 - 1
6-39564011-C-T c.665G>A p.R222H Missense 7/23 - 8
6-39564012-G-A c.664C>T p.R222C Missense 7/23 - 1
6-39564016-T-A c.660A>T p.S220= Synonymous 7/23 - 1
6-39564016-T-C c.660A>G p.S220= Synonymous 7/23 - 1
6-39564016-T-G c.660A>C p.S220= Synonymous 7/23 - 1
6-39564020-G-A c.656C>T p.A219V Missense 7/23 - 2
6-39564029-A-G c.647T>C p.M216T Missense 7/23 - 1
6-39564030-T-A c.646A>T p.M216L Missense 7/23 - 2
6-39564030-T-G c.646A>C p.M216L Missense 7/23 - 2
6-39564034-AG-CT c.641_642inv p.T214K Missense 7/23 - 1
6-39564229-C-T c.640-193G>A - IntronicSNV - 6/22 1
6-39564286-A-G c.640-250T>C - IntronicSNV - 6/22 1
6-39564598-T-C c.640-562A>G - IntronicSNV - 6/22 1
6-39564811-G-A c.640-775C>T - IntronicSNV - 6/22 1
6-39565198-G-T c.640-1162C>A - IntronicSNV - 6/22 1
6-39565707-T-A c.640-1671A>T - IntronicSNV - 6/22 1
6-39565707-T-C c.640-1671A>G - IntronicSNV - 6/22 1
6-39566203-G-A c.640-2167C>T - IntronicSNV - 6/22 1
6-39566355-G-A c.640-2319C>T - IntronicSNV - 6/22 1
6-39566436-T-A c.640-2400A>T - IntronicSNV - 6/22 1
6-39566653-A-G c.640-2617T>C - IntronicSNV - 6/22 1
6-39566671-A-T c.640-2635T>A - IntronicSNV - 6/22 1
6-39566979-A-C c.640-2943T>G - IntronicSNV - 6/22 1
6-39567020-G-A c.640-2984C>T - IntronicSNV - 6/22 1
6-39567094-G-T c.640-3058C>A - IntronicSNV - 6/22 1
6-39567573-C-A c.640-3537G>T - IntronicSNV - 6/22 1
6-39567573-C-T c.640-3537G>A - IntronicSNV - 6/22 1
6-39567578-C-A c.640-3542G>T - IntronicSNV - 6/22 1
6-39568421-G-A c.640-4385C>T - IntronicSNV - 6/22 1
6-39568726-G-C c.640-4690C>G - IntronicSNV - 6/22 1
6-39568726-G-T c.640-4690C>A - IntronicSNV - 6/22 1
6-39569136-T-C c.640-5100A>G - IntronicSNV - 6/22 1
6-39569470-C-T c.640-5434G>A - IntronicSNV - 6/22 1
6-39569589-C-A c.640-5553G>T - IntronicSNV - 6/22 1
6-39569589-C-T c.640-5553G>A - IntronicSNV - 6/22 1
6-39569918-C-A c.640-5882G>T - IntronicSNV - 6/22 1
6-39569918-C-T c.640-5882G>A - IntronicSNV - 6/22 1
6-39570407-T-C c.640-6371A>G - IntronicSNV - 6/22 1
6-39570662-T-C c.640-6626A>G - IntronicSNV - 6/22 1
6-39570811-A-T c.640-6775T>A - IntronicSNV - 6/22 1
6-39571122-GAGA-G c.640-7088_640-7086del - IntronicDeletion - 6/22 1
6-39571129-T-C c.640-7093A>G - IntronicSNV - 6/22 1
6-39571765-G-C c.640-7729C>G - IntronicSNV - 6/22 1
6-39572019-C-T c.640-7983G>A - IntronicSNV - 6/22 1
6-39572683-G-C c.639+8282C>G - IntronicSNV - 6/22 1
6-39573319-G-C c.639+7646C>G - IntronicSNV - 6/22 1
6-39573357-C-A c.639+7608G>T - IntronicSNV - 6/22 1
6-39573357-C-G c.639+7608G>C - IntronicSNV - 6/22 1
6-39573462-T-C c.639+7503A>G - IntronicSNV - 6/22 1
6-39573540-C-G c.639+7425G>C - IntronicSNV - 6/22 1
6-39573586-C-A c.639+7379G>T - IntronicSNV - 6/22 1
6-39573924-T-A c.639+7041A>T - IntronicSNV - 6/22 1
6-39573924-T-G c.639+7041A>C - IntronicSNV - 6/22 1
6-39574012-G-A c.639+6953C>T - IntronicSNV - 6/22 1
6-39574377-T-C c.639+6588A>G - IntronicSNV - 6/22 1
6-39575353-G-A c.639+5612C>T - IntronicSNV - 6/22 1
6-39575451-C-T c.639+5514G>A - IntronicSNV - 6/22 1
6-39575866-A-C c.639+5099T>G - IntronicSNV - 6/22 1
6-39577235-G-A c.639+3730C>T - IntronicSNV - 6/22 1
6-39577235-G-T c.639+3730C>A - IntronicSNV - 6/22 1
6-39577562-C-T c.639+3403G>A - IntronicSNV - 6/22 1
6-39578027-G-A c.639+2938C>T - IntronicSNV - 6/22 1
6-39578098-GAAGA-G c.639+2864_639+2867del - IntronicDeletion - 6/22 1
6-39578455-T-G c.639+2510A>C - IntronicSNV - 6/22 1
6-39578809-G-A c.639+2156C>T - IntronicSNV - 6/22 1
6-39578855-T-G c.639+2110A>C - IntronicSNV - 6/22 1
6-39578953-G-A c.639+2012C>T - IntronicSNV - 6/22 1
6-39579289-C-A c.639+1676G>T - IntronicSNV - 6/22 1
6-39579542-A-G c.639+1423T>C - IntronicSNV - 6/22 1
6-39579573-C-G c.639+1392G>C - IntronicSNV - 6/22 1
6-39579573-C-T c.639+1392G>A - IntronicSNV - 6/22 1
6-39579578-A-G c.639+1387T>C - IntronicSNV - 6/22 1
6-39579878-A-G c.639+1087T>C - IntronicSNV - 6/22 1
6-39580126-T-A c.639+839A>T - IntronicSNV - 6/22 1
6-39580406-T-C c.639+559A>G - IntronicSNV - 6/22 1
6-39580611-C-G c.639+354G>C - IntronicSNV - 6/22 1
6-39580842-G-A c.639+123C>T - IntronicSNV - 6/22 1
6-39580887-C-CT c.639+77dup - IntronicInsertion - 6/22 1
6-39580957-T-A c.639+8A>T - IntronicSNV - 6/22 1
6-39580965-C-A c.639G>T p.E213D Missense 6/23 - 1
6-39580967-C-G c.637G>C p.E213Q Missense 6/23 - 1
6-39580967-C-T c.637G>A p.E213K Missense 6/23 - 2
6-39580970-C-T c.634G>A p.A212T Missense 6/23 - 1
6-39580974-C-A c.630G>T p.M210I Missense 6/23 - 2
6-39580974-C-G c.630G>C p.M210I Missense 6/23 - 2
6-39580974-C-T c.630G>A p.M210I Missense 6/23 - 4
6-39580978-C-T c.626G>A p.R209Q Missense 6/23 - 1
6-39580979-G-A c.625C>T p.R209* Nonsense 6/23 - 3
6-39580980-G-T c.624C>A p.N208K Missense 6/23 - 1
6-39580981-T-C c.623A>G p.N208S Missense 6/23 - 1
6-39580978-CGGTT-C c.622_625del p.N208Efs*2 Frameshift 6/23 - 1
6-39580984-G-A c.620C>T p.T207I Missense 6/23 - 6
6-39580990-C-A c.614G>T p.G205V Missense 6/23 - 1
6-39580990-C-T c.614G>A p.G205E Missense 6/23 - 1
6-39580991-C-G c.613G>C p.G205R Missense 6/23 - 2
6-39580991-C-T c.613G>A p.G205R Missense 6/23 - 2
6-39580993-A-ATT c.610_611insAA p.L204* Nonsense 6/23 - 1
6-39580993-A-C c.611T>G p.L204* Nonsense 6/23 - 5
6-39580993-A-G c.611T>C p.L204S Missense 6/23 - 1
6-39580993-A-T c.611T>A p.L204* Nonsense 6/23 - 5
6-39580994-A-G c.610T>C p.L204= Synonymous 6/23 - 1
6-39580992-TA-T c.611del p.L204* Frameshift 6/23 - 5
6-39580992-T-TA c.611dup p.L204Ffs*47 Frameshift 6/23 - 1
6-39581000-G-A c.604C>T p.L202F Missense 6/23 - 1
6-39581012-C-T c.592G>A p.A198T Missense 6/23 - 2
6-39581018-C-G c.586G>C p.E196Q Missense 6/23 - 1
6-39581018-C-T c.586G>A p.E196K Missense 6/23 - 2
6-39581021-C-G c.583G>C p.E195Q Missense 6/23 - 2
6-39581021-C-T c.583G>A p.E195K Missense 6/23 - 3
6-39581023-G-A c.581C>T p.T194I Missense 6/23 - 1
6-39581025-G-A c.579C>T p.T193= Synonymous 6/23 - 1
6-39581025-G-C c.579C>G p.T193= Synonymous 6/23 - 1
6-39581025-GG-CA c.578_579delinsTG p.T193M Missense 6/23 - 1
6-39581025-G-T c.579C>A p.T193= Synonymous 6/23 - 1
6-39581027-T-C c.577A>G p.T193A Missense 6/23 - 1
6-39581029-G-A c.575C>T p.A192V Missense 6/23 - 1
6-39581035-T-A c.569A>T p.H190L Missense 6/23 - 3
6-39581039-G-C c.565C>G p.L189V Missense 6/23 - 1
6-39581041-AG-A c.563del p.T188Ifs*12 Frameshift 6/23 - 1
6-39581051-T-C c.553A>G p.K185E Missense 6/23 - 1
6-39581054-G-T c.550C>A p.L184M Missense 6/23 - 1
6-39581057-G-A c.547C>T p.H183Y Missense 6/23 - 3
6-39581058-AA-CC c.545_546delinsGG p.I182R Missense 6/23 - 1
6-39581059-A-C c.545T>G p.I182S Missense 6/23 - 1
6-39581060-T-C c.544A>G p.I182V Missense 6/23 - 1
6-39581062-T-C c.542A>G p.N181S Missense 6/23 - 1
6-39581064-C-T c.540G>A p.Q180= Synonymous 6/23 - 1
6-39581066-G-A c.538C>T p.Q180* Nonsense 6/23 - 1
6-39581067-A-T c.537T>A p.D179E Missense 6/23 - 1
6-39581069-C-G c.535G>C p.D179H Missense 6/23 - 1
6-39581075-C-A c.529G>T p.D177Y Missense 6/23 - 1
6-39581075-C-T c.529G>A p.D177N Missense 6/23 - 2
6-39581078-C-A c.526G>T p.E176* Nonsense 6/23 - 1
6-39581078-C-T c.526G>A p.E176K Missense 6/23 - 1
6-39581079-C-A c.525G>T p.L175= Synonymous 6/23 - 1
6-39581079-C-G c.525G>C p.L175= Synonymous 6/23 - 1
6-39581079-C-T c.525G>A p.L175= Synonymous 6/23 - 1
6-39581081-G-A c.523C>T p.L175= Synonymous 6/23 - 1
6-39581089-A-G c.515T>C p.V172A Missense 6/23 - 1
6-39581157-C-T c.510-63G>A - IntronicSNV - 5/22 1
6-39581190-G-A c.510-96C>T - IntronicSNV - 5/22 1
6-39581902-G-A c.510-808C>T - IntronicSNV - 5/22 1
6-39581963-T-C c.510-869A>G - IntronicSNV - 5/22 1
6-39582980-G-C c.510-1886C>G - IntronicSNV - 5/22 1
6-39583135-T-C c.510-2041A>G - IntronicSNV - 5/22 1
6-39583661-A-G c.510-2567T>C - IntronicSNV - 5/22 1
6-39583702-G-A c.510-2608C>T - IntronicSNV - 5/22 1
6-39584095-T-G c.510-3001A>C - IntronicSNV - 5/22 1
6-39584102-T-C c.510-3008A>G - IntronicSNV - 5/22 1
6-39584253-G-A c.510-3159C>T - IntronicSNV - 5/22 1
6-39584490-G-A c.510-3396C>T - IntronicSNV - 5/22 1
6-39584856-T-C c.510-3762A>G - IntronicSNV - 5/22 1
6-39585399-A-G c.510-4305T>C - IntronicSNV - 5/22 3
6-39585508-G-A c.510-4414C>T - IntronicSNV - 5/22 1
6-39585601-C-A c.510-4507G>T - IntronicSNV - 5/22 1
6-39586016-C-A c.510-4922G>T - IntronicSNV - 5/22 1
6-39586025-T-C c.510-4931A>G - IntronicSNV - 5/22 1
6-39586299-G-A c.510-5205C>T - IntronicSNV - 5/22 1
6-39587009-C-T c.510-5915G>A - IntronicSNV - 5/22 1
6-39587138-A-T c.510-6044T>A - IntronicSNV - 5/22 1
6-39587757-A-G c.510-6663T>C - IntronicSNV - 5/22 1
6-39587762-G-A c.510-6668C>T - IntronicSNV - 5/22 1
6-39588118-A-G c.510-7024T>C - IntronicSNV - 5/22 1
6-39588452-C-T c.510-7358G>A - IntronicSNV - 5/22 1
6-39588670-A-G c.510-7576T>C - IntronicSNV - 5/22 1
6-39589010-T-C c.510-7916A>G - IntronicSNV - 5/22 1
6-39589302-A-G c.510-8208T>C - IntronicSNV - 5/22 1
6-39589593-T-C c.510-8499A>G - IntronicSNV - 5/22 1
6-39589803-T-C c.510-8709A>G - IntronicSNV - 5/22 1
6-39590550-T-A c.510-9456A>T - IntronicSNV - 5/22 1
6-39590788-G-T c.510-9694C>A - IntronicSNV - 5/22 1
6-39591852-T-A c.510-10758A>T - IntronicSNV - 5/22 1
6-39591852-T-C c.510-10758A>G - IntronicSNV - 5/22 1
6-39591985-C-A c.509+10640G>T - IntronicSNV - 5/22 1
6-39592066-T-C c.509+10559A>G - IntronicSNV - 5/22 1
6-39592214-A-C c.509+10411T>G - IntronicSNV - 5/22 1
6-39592338-G-A c.509+10287C>T - IntronicSNV - 5/22 1
6-39592683-A-G c.509+9942T>C - IntronicSNV - 5/22 1
6-39593042-G-A c.509+9583C>T - IntronicSNV - 5/22 1
6-39593416-T-C c.509+9209A>G - IntronicSNV - 5/22 1
6-39593516-T-A c.509+9109A>T - IntronicSNV - 5/22 1
6-39593813-G-A c.509+8812C>T - IntronicSNV - 5/22 1
6-39593813-G-C c.509+8812C>G - IntronicSNV - 5/22 1
6-39594357-C-T c.509+8268G>A - IntronicSNV - 5/22 1
6-39594711-T-C c.509+7914A>G - IntronicSNV - 5/22 1
6-39594712-A-T c.509+7913T>A - IntronicSNV - 5/22 1
6-39596070-C-T c.509+6555G>A - IntronicSNV - 5/22 1
6-39596573-C-T c.509+6052G>A - IntronicSNV - 5/22 1
6-39596972-G-A c.509+5653C>T - IntronicSNV - 5/22 1
6-39597792-G-C c.509+4833C>G - IntronicSNV - 5/22 1
6-39597792-G-T c.509+4833C>A - IntronicSNV - 5/22 1
6-39598892-T-C c.509+3733A>G - IntronicSNV - 5/22 1
6-39598988-CT-C c.509+3636del - IntronicDeletion - 5/22 1
6-39599301-T-C c.509+3324A>G - IntronicSNV - 5/22 1
6-39600493-C-T c.509+2132G>A - IntronicSNV - 5/22 1
6-39600589-G-A c.509+2036C>T - IntronicSNV - 5/22 1
6-39600659-G-C c.509+1966C>G - IntronicSNV - 5/22 1
6-39600688-G-A c.509+1937C>T - IntronicSNV - 5/22 1
6-39600729-A-G c.509+1896T>C - IntronicSNV - 5/22 1
6-39600870-G-A c.509+1755C>T - IntronicSNV - 5/22 1
6-39600961-C-T c.509+1664G>A - IntronicSNV - 5/22 1
6-39601034-A-G c.509+1591T>C - IntronicSNV - 5/22 1
6-39601188-G-A c.509+1437C>T - IntronicSNV - 5/22 1
6-39601363-C-T c.509+1262G>A - IntronicSNV - 5/22 1
6-39601535-C-T c.509+1090G>A - IntronicSNV - 5/22 1
6-39601813-G-T c.509+812C>A - IntronicSNV - 5/22 1
6-39601894-G-A c.509+731C>T - IntronicSNV - 5/22 1
6-39601918-A-C c.509+707T>G - IntronicSNV - 5/22 1
6-39602074-G-T c.509+551C>A - IntronicSNV - 5/22 1
6-39602473-GA-G c.509+151del - IntronicDeletion - 5/22 1
6-39602505-C-G c.509+120G>C - IntronicSNV - 5/22 2
6-39602505-C-T c.509+120G>A - IntronicSNV - 5/22 2
6-39602624-C-G c.509+1G>C - IntronicSNV - 5/22 1
6-39602627-C-A c.507G>T p.L169F Missense 5/23 - 1
6-39602627-C-G c.507G>C p.L169F Missense 5/23 - 1
6-39602629-A-C c.505T>G p.L169V Missense 5/23 - 1
6-39602632-C-T c.502G>A p.D168N Missense 5/23 - 1
6-39602635-C-T c.499G>A p.E167K Missense 5/23 - 1
6-39602636-C-A c.498G>T p.L166F Missense 5/23 - 1
6-39602636-C-G c.498G>C p.L166F Missense 5/23 - 1
6-39602637-A-T c.497T>A p.L166* Nonsense 5/23 - 1
6-39602638-A-T c.496T>A p.L166M Missense 5/23 - 1
6-39602653-G-T c.481C>A p.H161N Missense 5/23 - 1
6-39602654-TCT-CCA c.478_480delinsTGG p.R160W Missense 5/23 - 1
6-39602655-C-A c.479G>T p.R160I Missense 5/23 - 1
6-39602658-G-A c.476C>T p.P159L Missense 5/23 - 3
6-39602659-G-C c.475C>G p.P159A Missense 5/23 - 1
6-39602660-A-T c.474T>A p.D158E Missense 5/23 - 1
6-39602662-C-A c.472G>T p.D158Y Missense 5/23 - 1
6-39602662-C-T c.472G>A p.D158N Missense 5/23 - 9
6-39602668-G-A c.466C>T p.L156F Missense 5/23 - 5
6-39602671-C-T c.463G>A p.D155N Missense 5/23 - 1
6-39602673-T-C c.461A>G p.Y154C Missense 5/23 - 1
6-39602683-C-T c.451G>A p.E151K Missense 5/23 - 2
6-39602685-T-C c.449A>G p.N150S Missense 5/23 - 5
6-39602695-C-T c.439G>A p.E147K Missense 5/23 - 1
6-39602696-C-T c.438G>A p.L146= Synonymous 5/23 - 1
6-39602698-A-G c.436T>C p.L146= Synonymous 5/23 - 1
6-39602699-A-G c.435T>C p.Y145= Synonymous 5/23 - 1
6-39602700-T-C c.434A>G p.Y145C Missense 5/23 - 1
6-39602701-A-G c.433T>C p.Y145H Missense 5/23 - 1
6-39602702-G-A c.432C>T p.S144= Synonymous 5/23 - 1
6-39602702-G-C c.432C>G p.S144= Synonymous 5/23 - 1
6-39602702-G-T c.432C>A p.S144= Synonymous 5/23 - 1
6-39602703-G-A c.431C>T p.S144F Missense 5/23 - 1
6-39602703-GA-CC c.430_431delinsGG p.S144G Missense 5/23 - 1
6-39602703-G-C c.431C>G p.S144C Missense 5/23 - 1
6-39602705-A-T c.429T>A p.I143= Synonymous 5/23 - 1
6-39602708-G-T c.426C>A p.H142Q Missense 5/23 - 1
6-39602709-T-C c.425A>G p.H142R Missense 5/23 - 1
6-39602710-G-A c.424C>T p.H142Y Missense 5/23 - 2
6-39602712-G-A c.422C>T p.T141I Missense 5/23 - 1
6-39602714-T-G c.420A>C p.T140= Synonymous 5/23 - 1
6-39602722-T-A c.412A>T p.I138L Missense 5/23 - 3
6-39602725-T-A c.409A>T p.K137* Nonsense 5/23 - 1
6-39602729-G-A c.405C>T p.S135= Synonymous 5/23 - 1
6-39602730-C-T c.404G>A p.S135N Missense 5/23 - 1
6-39602734-C-T c.400G>A p.D134N Missense 5/23 - 1
6-39602747-G-T c.400-13C>A - IntronicSNV - 4/22 5
6-39602821-C-T c.400-87G>A - IntronicSNV - 4/22 1
6-39602956-G-C c.400-222C>G - IntronicSNV - 4/22 1
6-39602970-G-A c.400-236C>T - IntronicSNV - 4/22 1
6-39603034-A-G c.400-300T>C - IntronicSNV - 4/22 1
6-39603260-G-C c.400-526C>G - IntronicSNV - 4/22 1
6-39603376-T-C c.400-642A>G - IntronicSNV - 4/22 1
6-39603415-C-T c.400-681G>A - IntronicSNV - 4/22 1
6-39604168-A-AT c.400-1435dup - IntronicInsertion - 4/22 1
6-39605168-A-G c.399+2218T>C - IntronicSNV - 4/22 1
6-39605182-C-T c.399+2204G>A - IntronicSNV - 4/22 1
6-39605404-T-C c.399+1982A>G - IntronicSNV - 4/22 1
6-39605489-A-C c.399+1897T>G - IntronicSNV - 4/22 1
6-39606014-G-A c.399+1372C>T - IntronicSNV - 4/22 1
6-39606635-A-C c.399+751T>G - IntronicSNV - 4/22 1
6-39606914-T-C c.399+472A>G - IntronicSNV - 4/22 1
6-39607016-C-T c.399+370G>A - IntronicSNV - 4/22 1
6-39607385-C-A c.399+1G>T - IntronicSNV - 4/22 1
6-39607385-C-T c.399+1G>A - IntronicSNV - 4/22 1
6-39607386-C-T c.399G>A p.K133= Synonymous 4/23 - 2
6-39607392-T-A c.393A>T p.L131F Missense 4/23 - 2
6-39607392-T-G c.393A>C p.L131F Missense 4/23 - 2
6-39607392-T-C c.393A>G p.L131= Synonymous 4/23 - 1
6-39607394-A-G c.391T>C p.L131= Synonymous 4/23 - 1
6-39607395-C-A c.390G>T p.Q130H Missense 4/23 - 7
6-39607395-C-G c.390G>C p.Q130H Missense 4/23 - 4
6-39607395-C-T c.390G>A p.Q130= Synonymous 4/23 - 2
6-39607402-A-C c.383T>G p.F128C Missense 4/23 - 1
6-39607403-A-C c.382T>G p.F128V Missense 4/23 - 1
6-39607416-T-A c.369A>T p.T123= Synonymous 4/23 - 1
6-39607416-T-C c.369A>G p.T123= Synonymous 4/23 - 1
6-39607416-T-G c.369A>C p.T123= Synonymous 4/23 - 1
6-39607419-C-A c.366G>T p.R122S Missense 4/23 - 1
6-39607419-C-G c.366G>C p.R122S Missense 4/23 - 1
6-39607420-C-A c.365G>T p.R122M Missense 4/23 - 1
6-39607423-G-A c.362C>T p.P121L Missense 4/23 - 3
6-39607425-G-A c.360C>T p.I120= Synonymous 4/23 - 4
6-39607425-G-C c.360C>G p.I120M Missense 4/23 - 1
6-39607435-C-T c.350G>A p.R117K Missense 4/23 - 1
6-39607435-CT-TG c.349_350delinsCA p.R117Q Missense 4/23 - 1
6-39607439-C-G c.346G>C p.D116H Missense 4/23 - 1
6-39607439-C-T c.346G>A p.D116N Missense 4/23 - 3
6-39607443-G-T c.342C>A p.Y114* Nonsense 4/23 - 1
6-39607447-C-T c.338G>A p.R113H Missense 4/23 - 3
6-39607448-G-A c.337C>T p.R113C Missense 4/23 - 1
6-39607449-C-T c.336G>A p.E112= Synonymous 4/23 - 1
6-39607456-C-G c.329G>C p.G110A Missense 4/23 - 1
6-39607456-C-T c.329G>A p.G110D Missense 4/23 - 2
6-39607458-C-T c.327G>A p.G109= Synonymous 4/23 - 1
6-39607459-C-A c.326G>T p.G109V Missense 4/23 - 1
6-39607459-C-T c.326G>A p.G109E Missense 4/23 - 9
6-39607472-A-C c.313T>G p.F105V Missense 4/23 - 1
6-39607476-C-T c.309G>A p.K103= Synonymous 4/23 - 1
6-39607478-T-A c.307A>T p.K103* Nonsense 4/23 - 1
6-39607479-C-T c.306G>A p.G102= Synonymous 4/23 - 1
6-39607480-C-T c.305G>A p.G102E Missense 4/23 - 8
6-39607482-G-A c.303C>T p.S101= Synonymous 4/23 - 3
6-39607485-GCC-TCA c.298_300delinsTGA p.G100* Nonsense 4/23 - 2
6-39607487-C-A c.298G>T p.G100C Missense 4/23 - 1
6-39607493-G-A c.292C>T p.Q98* Nonsense 4/23 - 1
6-39607495-C-T c.290G>A p.G97E Missense 4/23 - 1
6-39607504-A-T c.281T>A p.F94Y Missense 4/23 - 1
6-39607510-G-A c.275C>T p.T92I Missense 4/23 - 5
6-39607511-T-C c.274A>G p.T92A Missense 4/23 - 1
6-39607514-C-A c.271G>T p.G91C Missense 4/23 - 1
6-39607514-C-T c.271G>A p.G91S Missense 4/23 - 1
6-39607515-A-G c.270T>C p.N90= Synonymous 4/23 - 1
6-39607516-T-C c.269A>G p.N90S Missense 4/23 - 1
6-39607519-T-C c.266A>G p.Y89C Missense 4/23 - 1
6-39607523-C-T c.262G>A p.G88S Missense 4/23 - 1
6-39607526-C-A c.259G>T p.A87S Missense 4/23 - 1
6-39607551-C-T c.252-18G>A - IntronicSNV - 3/22 3
6-39607747-C-T c.252-214G>A - IntronicSNV - 3/22 2
6-39607881-C-A c.252-348G>T - IntronicSNV - 3/22 1
6-39607881-C-T c.252-348G>A - IntronicSNV - 3/22 1
6-39608028-T-C c.252-495A>G - IntronicSNV - 3/22 1
6-39608334-C-T c.252-801G>A - IntronicSNV - 3/22 1
6-39608458-T-C c.252-925A>G - IntronicSNV - 3/22 1
6-39609147-A-T c.252-1614T>A - IntronicSNV - 3/22 1
6-39609257-C-A c.252-1724G>T - IntronicSNV - 3/22 1
6-39609257-C-G c.252-1724G>C - IntronicSNV - 3/22 1
6-39609257-C-T c.252-1724G>A - IntronicSNV - 3/22 1
6-39609289-G-A c.252-1756C>T - IntronicSNV - 3/22 1
6-39609325-C-T c.252-1792G>A - IntronicSNV - 3/22 1
6-39609426-A-G c.252-1893T>C - IntronicSNV - 3/22 1
6-39609426-A-T c.252-1893T>A - IntronicSNV - 3/22 1
6-39609754-G-A c.252-2221C>T - IntronicSNV - 3/22 1
6-39610394-T-C c.252-2861A>G - IntronicSNV - 3/22 1
6-39611380-C-A c.252-3847G>T - IntronicSNV - 3/22 1
6-39611697-G-T c.252-4164C>A - IntronicSNV - 3/22 1
6-39611762-G-T c.252-4229C>A - IntronicSNV - 3/22 1
6-39612095-A-C c.252-4562T>G - IntronicSNV - 3/22 1
6-39612398-T-C c.252-4865A>G - IntronicSNV - 3/22 1
6-39612398-T-G c.252-4865A>C - IntronicSNV - 3/22 1
6-39612709-G-T c.252-5176C>A - IntronicSNV - 3/22 1
6-39613613-G-A c.252-6080C>T - IntronicSNV - 3/22 1
6-39613911-T-C c.252-6378A>G - IntronicSNV - 3/22 1
6-39614805-A-T c.252-7272T>A - IntronicSNV - 3/22 1
6-39615540-T-C c.252-8007A>G - IntronicSNV - 3/22 1
6-39615892-C-T c.252-8359G>A - IntronicSNV - 3/22 1
6-39616504-C-A c.252-8971G>T - IntronicSNV - 3/22 1
6-39616504-C-T c.252-8971G>A - IntronicSNV - 3/22 1
6-39616840-A-G c.252-9307T>C - IntronicSNV - 3/22 1
6-39617497-T-G c.252-9964A>C - IntronicSNV - 3/22 1
6-39617725-G-C c.252-10192C>G - IntronicSNV - 3/22 1
6-39617986-C-T c.252-10453G>A - IntronicSNV - 3/22 1
6-39618294-A-G c.252-10761T>C - IntronicSNV - 3/22 1
6-39618441-A-G c.252-10908T>C - IntronicSNV - 3/22 1
6-39618919-C-T c.252-11386G>A - IntronicSNV - 3/22 1
6-39618963-C-A c.252-11430G>T - IntronicSNV - 3/22 1
6-39619068-G-C c.252-11535C>G - IntronicSNV - 3/22 1
6-39619222-G-T c.252-11689C>A - IntronicSNV - 3/22 1
6-39620171-C-T c.252-12638G>A - IntronicSNV - 3/22 1
6-39621013-A-G c.252-13480T>C - IntronicSNV - 3/22 1
6-39621685-C-G c.252-14152G>C - IntronicSNV - 3/22 1
6-39621796-C-T c.252-14263G>A - IntronicSNV - 3/22 1
6-39622146-G-A c.252-14613C>T - IntronicSNV - 3/22 1
6-39622285-T-C c.252-14752A>G - IntronicSNV - 3/22 1
6-39622571-G-A c.252-15038C>T - IntronicSNV - 3/22 1
6-39622571-G-T c.252-15038C>A - IntronicSNV - 3/22 1
6-39622606-T-C c.252-15073A>G - IntronicSNV - 3/22 1
6-39624981-C-A c.252-17448G>T - IntronicSNV - 3/22 1
6-39625366-A-C c.252-17833T>G - IntronicSNV - 3/22 1
6-39625374-T-G c.252-17841A>C - IntronicSNV - 3/22 2
6-39625611-G-T c.252-18078C>A - IntronicSNV - 3/22 1
6-39625654-C-G c.252-18121G>C - IntronicSNV - 3/22 1
6-39625664-A-T c.252-18131T>A - IntronicSNV - 3/22 1
6-39625884-C-T c.252-18351G>A - IntronicSNV - 3/22 1
6-39626157-G-A c.252-18624C>T - IntronicSNV - 3/22 1
6-39626423-A-G c.252-18890T>C - IntronicSNV - 3/22 1
6-39626679-T-A c.252-19146A>T - IntronicSNV - 3/22 1
6-39626697-A-C c.252-19164T>G - IntronicSNV - 3/22 1
6-39626785-C-A c.252-19252G>T - IntronicSNV - 3/22 1
6-39626913-G-A c.252-19380C>T - IntronicSNV - 3/22 1
6-39627080-G-A c.252-19547C>T - IntronicSNV - 3/22 1
6-39627358-G-A c.252-19825C>T - IntronicSNV - 3/22 1
6-39627671-C-T c.252-20138G>A - IntronicSNV - 3/22 1
6-39627774-G-T c.252-20241C>A - IntronicSNV - 3/22 1
6-39628256-G-A c.252-20723C>T - IntronicSNV - 3/22 1
6-39628332-C-A c.252-20799G>T - IntronicSNV - 3/22 1
6-39628801-T-A c.252-21268A>T - IntronicSNV - 3/22 1
6-39628801-T-G c.252-21268A>C - IntronicSNV - 3/22 1
6-39628962-T-C c.252-21429A>G - IntronicSNV - 3/22 1
6-39629397-G-T c.252-21864C>A - IntronicSNV - 3/22 1
6-39629704-C-G c.252-22171G>C - IntronicSNV - 3/22 1
6-39629963-G-C c.252-22430C>G - IntronicSNV - 3/22 1
6-39630018-T-C c.252-22485A>G - IntronicSNV - 3/22 1
6-39630464-A-C c.252-22931T>G - IntronicSNV - 3/22 1
6-39630635-T-C c.252-23102A>G - IntronicSNV - 3/22 1
6-39631028-T-C c.252-23495A>G - IntronicSNV - 3/22 1
6-39631260-G-A c.252-23727C>T - IntronicSNV - 3/22 1
6-39631260-G-C c.252-23727C>G - IntronicSNV - 3/22 1
6-39631265-A-G c.252-23732T>C - IntronicSNV - 3/22 1
6-39631548-A-G c.252-24015T>C - IntronicSNV - 3/22 1
6-39632196-C-A c.252-24663G>T - IntronicSNV - 3/22 1
6-39632196-C-T c.252-24663G>A - IntronicSNV - 3/22 1
6-39632570-T-C c.252-25037A>G - IntronicSNV - 3/22 1
6-39632719-T-G c.252-25186A>C - IntronicSNV - 3/22 1
6-39632951-T-C c.252-25418A>G - IntronicSNV - 3/22 1
6-39633751-A-G c.252-26218T>C - IntronicSNV - 3/22 1
6-39633753-C-A c.252-26220G>T - IntronicSNV - 3/22 1
6-39634238-A-T c.252-26705T>A - IntronicSNV - 3/22 1
6-39634593-C-T c.252-27060G>A - IntronicSNV - 3/22 1
6-39634941-T-A c.252-27408A>T - IntronicSNV - 3/22 1
6-39635104-T-C c.252-27571A>G - IntronicSNV - 3/22 1
6-39635658-G-A c.252-28125C>T - IntronicSNV - 3/22 1
6-39635754-T-C c.252-28221A>G - IntronicSNV - 3/22 1
6-39635886-A-AG c.252-28354dup - IntronicInsertion - 3/22 1
6-39635957-T-C c.252-28424A>G - IntronicSNV - 3/22 1
6-39636329-G-A c.252-28796C>T - IntronicSNV - 3/22 1
6-39636329-G-T c.252-28796C>A - IntronicSNV - 3/22 1
6-39636365-C-G c.252-28832G>C - IntronicSNV - 3/22 1
6-39636722-T-C c.252-29189A>G - IntronicSNV - 3/22 1
6-39637802-A-C c.252-30269T>G - IntronicSNV - 3/22 1
6-39637815-A-G c.252-30282T>C - IntronicSNV - 3/22 1
6-39637830-A-T c.252-30297T>A - IntronicSNV - 3/22 1
6-39638584-C-T c.252-31051G>A - IntronicSNV - 3/22 1
6-39638679-T-G c.252-31146A>C - IntronicSNV - 3/22 1
6-39639008-A-C c.252-31475T>G - IntronicSNV - 3/22 1
6-39639008-A-T c.252-31475T>A - IntronicSNV - 3/22 1
6-39639301-G-A c.252-31768C>T - IntronicSNV - 3/22 1
6-39639375-T-C c.252-31842A>G - IntronicSNV - 3/22 1
6-39639436-A-G c.252-31903T>C - IntronicSNV - 3/22 1
6-39639496-T-C c.252-31963A>G - IntronicSNV - 3/22 1
6-39639946-G-C c.252-32413C>G - IntronicSNV - 3/22 1
6-39640197-T-A c.252-32664A>T - IntronicSNV - 3/22 1
6-39640197-T-C c.252-32664A>G - IntronicSNV - 3/22 1
6-39640345-A-G c.252-32812T>C - IntronicSNV - 3/22 1
6-39640748-A-C c.252-33215T>G - IntronicSNV - 3/22 1
6-39640748-A-T c.252-33215T>A - IntronicSNV - 3/22 1
6-39640805-C-T c.252-33272G>A - IntronicSNV - 3/22 1
6-39640864-G-A c.252-33331C>T - IntronicSNV - 3/22 1
6-39641366-A-G c.252-33833T>C - IntronicSNV - 3/22 1
6-39641420-T-C c.252-33887A>G - IntronicSNV - 3/22 1
6-39641780-C-T c.252-34247G>A - IntronicSNV - 3/22 1
6-39642334-T-C c.252-34801A>G - IntronicSNV - 3/22 1
6-39642601-T-A c.252-35068A>T - IntronicSNV - 3/22 1
6-39642601-T-C c.252-35068A>G - IntronicSNV - 3/22 1
6-39642693-C-T c.252-35160G>A - IntronicSNV - 3/22 1
6-39642867-G-A c.252-35334C>T - IntronicSNV - 3/22 1
6-39642984-C-T c.252-35451G>A - IntronicSNV - 3/22 1
6-39643472-A-G c.252-35939T>C - IntronicSNV - 3/22 1
6-39643472-A-T c.252-35939T>A - IntronicSNV - 3/22 1
6-39643607-C-A c.252-36074G>T - IntronicSNV - 3/22 1
6-39643607-C-T c.252-36074G>A - IntronicSNV - 3/22 1
6-39645386-C-T c.251+37082G>A - IntronicSNV - 3/22 1
6-39645733-A-C c.251+36735T>G - IntronicSNV - 3/22 1
6-39645733-A-T c.251+36735T>A - IntronicSNV - 3/22 1
6-39646060-C-A c.251+36408G>T - IntronicSNV - 3/22 1
6-39646060-C-T c.251+36408G>A - IntronicSNV - 3/22 1
6-39646676-A-G c.251+35792T>C - IntronicSNV - 3/22 1
6-39647233-A-G c.251+35235T>C - IntronicSNV - 3/22 2
6-39647233-A-T c.251+35235T>A - IntronicSNV - 3/22 2
6-39647422-C-T c.251+35046G>A - IntronicSNV - 3/22 1
6-39647452-T-C c.251+35016A>G - IntronicSNV - 3/22 1
6-39647452-T-G c.251+35016A>C - IntronicSNV - 3/22 1
6-39647798-A-G c.251+34670T>C - IntronicSNV - 3/22 1
6-39647798-A-T c.251+34670T>A - IntronicSNV - 3/22 1
6-39647809-G-A c.251+34659C>T - IntronicSNV - 3/22 1
6-39647938-C-A c.251+34530G>T - IntronicSNV - 3/22 1
6-39648198-T-C c.251+34270A>G - IntronicSNV - 3/22 1
6-39648198-T-G c.251+34270A>C - IntronicSNV - 3/22 1
6-39648685-G-A c.251+33783C>T - IntronicSNV - 3/22 1
6-39648962-T-C c.251+33506A>G - IntronicSNV - 3/22 1
6-39649202-C-A c.251+33266G>T - IntronicSNV - 3/22 1
6-39649251-T-A c.251+33217A>T - IntronicSNV - 3/22 1
6-39649507-G-A c.251+32961C>T - IntronicSNV - 3/22 1
6-39649567-C-T c.251+32901G>A - IntronicSNV - 3/22 1
6-39649753-C-CG c.251+32714dup - IntronicInsertion - 3/22 1
6-39649968-G-A c.251+32500C>T - IntronicSNV - 3/22 1
6-39650148-C-T c.251+32320G>A - IntronicSNV - 3/22 1
6-39650149-A-G c.251+32319T>C - IntronicSNV - 3/22 1
6-39650149-A-T c.251+32319T>A - IntronicSNV - 3/22 1
6-39650206-C-G c.251+32262G>C - IntronicSNV - 3/22 1
6-39650206-C-T c.251+32262G>A - IntronicSNV - 3/22 1
6-39650617-A-G c.251+31851T>C - IntronicSNV - 3/22 1
6-39650650-G-GC c.251+31817dup - IntronicInsertion - 3/22 1
6-39651472-A-G c.251+30996T>C - IntronicSNV - 3/22 1
6-39651875-A-G c.251+30593T>C - IntronicSNV - 3/22 1
6-39652060-T-C c.251+30408A>G - IntronicSNV - 3/22 1
6-39652315-C-A c.251+30153G>T - IntronicSNV - 3/22 1
6-39652315-C-T c.251+30153G>A - IntronicSNV - 3/22 1
6-39652424-G-A c.251+30044C>T - IntronicSNV - 3/22 1
6-39652721-T-G c.251+29747A>C - IntronicSNV - 3/22 1
6-39652778-A-G c.251+29690T>C - IntronicSNV - 3/22 1
6-39652778-A-T c.251+29690T>A - IntronicSNV - 3/22 1
6-39653406-A-C c.251+29062T>G - IntronicSNV - 3/22 1
6-39653406-A-T c.251+29062T>A - IntronicSNV - 3/22 1
6-39653423-C-T c.251+29045G>A - IntronicSNV - 3/22 1
6-39653543-C-G c.251+28925G>C - IntronicSNV - 3/22 1
6-39653543-C-T c.251+28925G>A - IntronicSNV - 3/22 1
6-39653709-C-T c.251+28759G>A - IntronicSNV - 3/22 1
6-39654572-C-T c.251+27896G>A - IntronicSNV - 3/22 1
6-39654603-C-T c.251+27865G>A - IntronicSNV - 3/22 1
6-39655038-C-T c.251+27430G>A - IntronicSNV - 3/22 1
6-39655127-C-T c.251+27341G>A - IntronicSNV - 3/22 1
6-39656312-G-T c.251+26156C>A - IntronicSNV - 3/22 1
6-39656385-G-A c.251+26083C>T - IntronicSNV - 3/22 1
6-39656448-A-G c.251+26020T>C - IntronicSNV - 3/22 1
6-39656471-C-T c.251+25997G>A - IntronicSNV - 3/22 1
6-39656638-C-T c.251+25830G>A - IntronicSNV - 3/22 1
6-39656689-G-C c.251+25779C>G - IntronicSNV - 3/22 1
6-39656689-G-T c.251+25779C>A - IntronicSNV - 3/22 1
6-39657300-T-A c.251+25168A>T - IntronicSNV - 3/22 1
6-39657579-C-T c.251+24889G>A - IntronicSNV - 3/22 1
6-39657728-G-A c.251+24740C>T - IntronicSNV - 3/22 1
6-39658135-G-A c.251+24333C>T - IntronicSNV - 3/22 1
6-39658411-C-T c.251+24057G>A - IntronicSNV - 3/22 1
6-39658651-C-T c.251+23817G>A - IntronicSNV - 3/22 1
6-39659192-T-C c.251+23276A>G - IntronicSNV - 3/22 1
6-39659516-A-G c.251+22952T>C - IntronicSNV - 3/22 1
6-39659516-A-T c.251+22952T>A - IntronicSNV - 3/22 1
6-39659744-A-C c.251+22724T>G - IntronicSNV - 3/22 1
6-39659771-C-T c.251+22697G>A - IntronicSNV - 3/22 1
6-39659772-G-C c.251+22696C>G - IntronicSNV - 3/22 1
6-39659772-G-T c.251+22696C>A - IntronicSNV - 3/22 1
6-39659857-G-A c.251+22611C>T - IntronicSNV - 3/22 1
6-39659893-G-C c.251+22575C>G - IntronicSNV - 3/22 1
6-39660150-G-A c.251+22318C>T - IntronicSNV - 3/22 1
6-39660150-G-C c.251+22318C>G - IntronicSNV - 3/22 1
6-39660718-C-T c.251+21750G>A - IntronicSNV - 3/22 1
6-39660967-A-C c.251+21501T>G - IntronicSNV - 3/22 1
6-39660991-A-G c.251+21477T>C - IntronicSNV - 3/22 1
6-39661201-T-C c.251+21267A>G - IntronicSNV - 3/22 1
6-39661448-A-C c.251+21020T>G - IntronicSNV - 3/22 1
6-39661448-A-G c.251+21020T>C - IntronicSNV - 3/22 1
6-39661448-A-T c.251+21020T>A - IntronicSNV - 3/22 1
6-39661447-TA-T c.251+21020del - IntronicDeletion - 3/22 1
6-39661488-G-T c.251+20980C>A - IntronicSNV - 3/22 1
6-39661572-T-G c.251+20896A>C - IntronicSNV - 3/22 1
6-39661680-A-G c.251+20788T>C - IntronicSNV - 3/22 1
6-39661680-A-T c.251+20788T>A - IntronicSNV - 3/22 1
6-39662208-G-A c.251+20260C>T - IntronicSNV - 3/22 1
6-39662585-A-G c.251+19883T>C - IntronicSNV - 3/22 1
6-39662795-T-A c.251+19673A>T - IntronicSNV - 3/22 1
6-39662795-T-C c.251+19673A>G - IntronicSNV - 3/22 1
6-39663135-G-A c.251+19333C>T - IntronicSNV - 3/22 1
6-39663693-C-A c.251+18775G>T - IntronicSNV - 3/22 1
6-39664108-G-A c.251+18360C>T - IntronicSNV - 3/22 1
6-39664415-C-T c.251+18053G>A - IntronicSNV - 3/22 1
6-39664714-GA-G c.251+17753del - IntronicDeletion - 3/22 1
6-39664875-C-T c.251+17593G>A - IntronicSNV - 3/22 1
6-39665404-C-A c.251+17064G>T - IntronicSNV - 3/22 1
6-39665404-C-T c.251+17064G>A - IntronicSNV - 3/22 1
6-39665873-T-G c.251+16595A>C - IntronicSNV - 3/22 1
6-39666024-C-T c.251+16444G>A - IntronicSNV - 3/22 1
6-39666498-A-C c.251+15970T>G - IntronicSNV - 3/22 1
6-39666498-A-G c.251+15970T>C - IntronicSNV - 3/22 1
6-39666498-A-T c.251+15970T>A - IntronicSNV - 3/22 1
6-39666704-G-A c.251+15764C>T - IntronicSNV - 3/22 1
6-39667401-T-C c.251+15067A>G - IntronicSNV - 3/22 1
6-39667458-TA-T c.251+15009del - IntronicDeletion - 3/22 1
6-39667654-T-C c.251+14814A>G - IntronicSNV - 3/22 1
6-39668614-G-A c.251+13854C>T - IntronicSNV - 3/22 1
6-39668614-G-C c.251+13854C>G - IntronicSNV - 3/22 1
6-39668939-T-A c.251+13529A>T - IntronicSNV - 3/22 1
6-39668939-T-C c.251+13529A>G - IntronicSNV - 3/22 1
6-39669733-A-G c.251+12735T>C - IntronicSNV - 3/22 1
6-39670040-G-A c.251+12428C>T - IntronicSNV - 3/22 1
6-39670164-C-T c.251+12304G>A - IntronicSNV - 3/22 1
6-39670180-C-T c.251+12288G>A - IntronicSNV - 3/22 1
6-39670450-T-C c.251+12018A>G - IntronicSNV - 3/22 1
6-39670625-G-A c.251+11843C>T - IntronicSNV - 3/22 1
6-39670809-A-C c.251+11659T>G - IntronicSNV - 3/22 1
6-39670986-C-CA c.251+11481dup - IntronicInsertion - 3/22 1
6-39671273-T-C c.251+11195A>G - IntronicSNV - 3/22 1
6-39671363-C-T c.251+11105G>A - IntronicSNV - 3/22 1
6-39671655-A-G c.251+10813T>C - IntronicSNV - 3/22 1
6-39671680-C-T c.251+10788G>A - IntronicSNV - 3/22 1
6-39671929-A-G c.251+10539T>C - IntronicSNV - 3/22 1
6-39671936-A-G c.251+10532T>C - IntronicSNV - 3/22 1
6-39671936-A-T c.251+10532T>A - IntronicSNV - 3/22 1
6-39672013-G-A c.251+10455C>T - IntronicSNV - 3/22 1
6-39672276-C-A c.251+10192G>T - IntronicSNV - 3/22 1
6-39672380-A-C c.251+10088T>G - IntronicSNV - 3/22 1
6-39672380-A-G c.251+10088T>C - IntronicSNV - 3/22 1
6-39672380-A-T c.251+10088T>A - IntronicSNV - 3/22 1
6-39672597-T-C c.251+9871A>G - IntronicSNV - 3/22 1
6-39672621-T-C c.251+9847A>G - IntronicSNV - 3/22 1
6-39672902-T-A c.251+9566A>T - IntronicSNV - 3/22 1
6-39673102-A-G c.251+9366T>C - IntronicSNV - 3/22 1
6-39673126-G-A c.251+9342C>T - IntronicSNV - 3/22 1
6-39673386-C-A c.251+9082G>T - IntronicSNV - 3/22 1
6-39673594-A-C c.251+8874T>G - IntronicSNV - 3/22 1
6-39674132-T-G c.251+8336A>C - IntronicSNV - 3/22 1
6-39674221-G-C c.251+8247C>G - IntronicSNV - 3/22 1
6-39674332-T-C c.251+8136A>G - IntronicSNV - 3/22 2
6-39674897-G-A c.251+7571C>T - IntronicSNV - 3/22 1
6-39675195-C-G c.251+7273G>C - IntronicSNV - 3/22 1
6-39675195-C-T c.251+7273G>A - IntronicSNV - 3/22 1
6-39675327-G-A c.251+7141C>T - IntronicSNV - 3/22 1
6-39675564-T-C c.251+6904A>G - IntronicSNV - 3/22 1
6-39675756-C-A c.251+6712G>T - IntronicSNV - 3/22 1
6-39675800-C-G c.251+6668G>C - IntronicSNV - 3/22 1
6-39675800-C-T c.251+6668G>A - IntronicSNV - 3/22 1
6-39677008-T-C c.251+5460A>G - IntronicSNV - 3/22 1
6-39677036-T-G c.251+5432A>C - IntronicSNV - 3/22 1
6-39677165-G-A c.251+5303C>T - IntronicSNV - 3/22 1
6-39677165-G-C c.251+5303C>G - IntronicSNV - 3/22 1
6-39677323-A-G c.251+5145T>C - IntronicSNV - 3/22 1
6-39677384-C-T c.251+5084G>A - IntronicSNV - 3/22 1
6-39677419-T-A c.251+5049A>T - IntronicSNV - 3/22 1
6-39678054-C-T c.251+4414G>A - IntronicSNV - 3/22 1
6-39678195-C-A c.251+4273G>T - IntronicSNV - 3/22 1
6-39678195-C-G c.251+4273G>C - IntronicSNV - 3/22 1
6-39678195-C-T c.251+4273G>A - IntronicSNV - 3/22 1
6-39678258-A-C c.251+4210T>G - IntronicSNV - 3/22 1
6-39678419-T-C c.251+4049A>G - IntronicSNV - 3/22 1
6-39678872-A-G c.251+3596T>C - IntronicSNV - 3/22 1
6-39679151-C-G c.251+3317G>C - IntronicSNV - 3/22 1
6-39679551-C-T c.251+2917G>A - IntronicSNV - 3/22 1
6-39680018-A-C c.251+2450T>G - IntronicSNV - 3/22 1
6-39680100-GA-G c.251+2367del - IntronicDeletion - 3/22 1
6-39680711-TAGAAC-T c.251+1753_251+1757del - IntronicDeletion - 3/22 1
6-39680915-C-G c.251+1553G>C - IntronicSNV - 3/22 1
6-39680915-C-T c.251+1553G>A - IntronicSNV - 3/22 1
6-39680944-C-G c.251+1524G>C - IntronicSNV - 3/22 1
6-39680944-C-T c.251+1524G>A - IntronicSNV - 3/22 1
6-39681214-A-G c.251+1254T>C - IntronicSNV - 3/22 1
6-39681702-A-C c.251+766T>G - IntronicSNV - 3/22 1
6-39682102-C-T c.251+366G>A - IntronicSNV - 3/22 1
6-39682329-G-A c.251+139C>T - IntronicSNV - 3/22 1
6-39682329-G-T c.251+139C>A - IntronicSNV - 3/22 1
6-39682367-G-A c.251+101C>T - IntronicSNV - 3/22 5
6-39682392-A-G c.251+76T>C - IntronicSNV - 3/22 1
6-39682468-C-A c.251G>T p.S84I Missense 3/23 - 1
6-39682471-C-T c.248G>A p.G83E Missense 3/23 - 2
6-39682472-C-G c.247G>C p.G83R Missense 3/23 - 1
6-39682472-C-T c.247G>A p.G83R Missense 3/23 - 1
6-39682478-C-T c.241G>A p.V81I Missense 3/23 - 1
6-39682479-T-A c.240A>T p.P80= Synonymous 3/23 - 1
6-39682481-G-T c.238C>A p.P80T Missense 3/23 - 1
6-39682490-T-C c.229A>G p.I77V Missense 3/23 - 1
6-39682492-T-C c.227A>G p.N76S Missense 3/23 - 1
6-39682496-C-T c.223G>A p.E75K Missense 3/23 - 1
6-39682509-T-A c.210A>T p.Q70H Missense 3/23 - 1
6-39682509-T-G c.210A>C p.Q70H Missense 3/23 - 1
6-39682513-T-G c.206A>C p.N69T Missense 3/23 - 1
6-39682514-T-G c.205A>C p.N69H Missense 3/23 - 1
6-39682517-C-A c.202G>T p.A68S Missense 3/23 - 1
6-39682520-C-T c.199G>A p.D67N Missense 3/23 - 5
6-39682526-C-A c.193G>T p.D65Y Missense 3/23 - 3
6-39682530-A-C c.189T>G p.I63M Missense 3/23 - 1
6-39682526-C-CA c.192dup p.D65* Nonsense 3/23 - 1
6-39682532-T-C c.187A>G p.I63V Missense 3/23 - 1
6-39682534-C-A c.185G>T p.R62I Missense 3/23 - 2
6-39682534-C-G c.185G>C p.R62T Missense 3/23 - 1
6-39682538-G-A c.181C>T p.Q61* Nonsense 3/23 - 1
6-39682691-T-C c.177-149A>G - IntronicSNV - 2/22 1
6-39682755-G-T c.177-213C>A - IntronicSNV - 2/22 1
6-39682866-A-T c.177-324T>A - IntronicSNV - 2/22 1
6-39682934-T-C c.177-392A>G - IntronicSNV - 2/22 1
6-39683154-G-A c.177-612C>T - IntronicSNV - 2/22 1
6-39683154-G-T c.177-612C>A - IntronicSNV - 2/22 1
6-39683457-C-T c.177-915G>A - IntronicSNV - 2/22 1
6-39683515-A-C c.177-973T>G - IntronicSNV - 2/22 1
6-39683765-A-G c.177-1223T>C - IntronicSNV - 2/22 1
6-39684075-G-C c.177-1533C>G - IntronicSNV - 2/22 1
6-39684123-G-A c.177-1581C>T - IntronicSNV - 2/22 1
6-39684123-G-C c.177-1581C>G - IntronicSNV - 2/22 1
6-39684144-A-C c.177-1602T>G - IntronicSNV - 2/22 1
6-39684556-T-A c.177-2014A>T - IntronicSNV - 2/22 1
6-39684556-T-C c.177-2014A>G - IntronicSNV - 2/22 1
6-39685135-G-A c.177-2593C>T - IntronicSNV - 2/22 1
6-39685311-C-A c.177-2769G>T - IntronicSNV - 2/22 1
6-39685311-C-G c.177-2769G>C - IntronicSNV - 2/22 1
6-39685691-T-A c.176+2787A>T - IntronicSNV - 2/22 1
6-39685691-T-C c.176+2787A>G - IntronicSNV - 2/22 1
6-39685873-T-G c.176+2605A>C - IntronicSNV - 2/22 1
6-39685954-C-T c.176+2524G>A - IntronicSNV - 2/22 1
6-39685960-C-G c.176+2518G>C - IntronicSNV - 2/22 1
6-39685960-C-T c.176+2518G>A - IntronicSNV - 2/22 1
6-39686091-A-T c.176+2387T>A - IntronicSNV - 2/22 1
6-39686184-T-C c.176+2294A>G - IntronicSNV - 2/22 1
6-39686723-A-C c.176+1755T>G - IntronicSNV - 2/22 1
6-39686915-T-A c.176+1563A>T - IntronicSNV - 2/22 1
6-39686915-T-C c.176+1563A>G - IntronicSNV - 2/22 1
6-39687076-C-G c.176+1402G>C - IntronicSNV - 2/22 1
6-39687076-C-T c.176+1402G>A - IntronicSNV - 2/22 1
6-39687298-T-G c.176+1180A>C - IntronicSNV - 2/22 1
6-39688367-T-A c.176+111A>T - IntronicSNV - 2/22 3
6-39688367-T-C c.176+111A>G - IntronicSNV - 2/22 4
6-39688474-T-A c.176+4A>T - IntronicSNV - 2/22 1
6-39688478-T-C c.176A>G p.K59R Missense 2/23 - 2
6-39688478-T-G c.176A>C p.K59T Missense 2/23 - 2
6-39688481-A-G c.173T>C p.F58S Missense 2/23 - 2
6-39688486-G-C c.168C>G p.Y56* Nonsense 2/23 - 1
6-39688486-G-T c.168C>A p.Y56* Nonsense 2/23 - 2
6-39688489-G-A c.165C>T p.S55= Synonymous 2/23 - 1
6-39688490-C-T c.164G>A p.S55N Missense 2/23 - 6
6-39688494-C-T c.160G>A p.E54K Missense 2/23 - 4
6-39688495-TC-AT c.158_159delinsAT p.R53H Missense 2/23 - 1
6-39688496-C-T c.158G>A p.R53Q Missense 2/23 - 1
6-39688497-G-T c.157C>A p.R53= Synonymous 2/23 - 2
6-39688504-A-C c.150T>G p.N50K Missense 2/23 - 2
6-39688506-T-C c.148A>G p.N50D Missense 2/23 - 1
6-39688521-C-T c.133G>A p.A45T Missense 2/23 - 1
6-39688522-C-T c.132G>A p.L44= Synonymous 2/23 - 1
6-39688524-A-G c.130T>C p.L44= Synonymous 2/23 - 1
6-39688525-A-C c.129T>G p.D43E Missense 2/23 - 1
6-39688525-A-T c.129T>A p.D43E Missense 2/23 - 1
6-39688526-T-C c.128A>G p.D43G Missense 2/23 - 1
6-39688530-G-A c.124C>T p.R42C Missense 2/23 - 2
6-39688530-G-T c.124C>A p.R42S Missense 2/23 - 1
6-39688533-G-A c.121C>T p.P41S Missense 2/23 - 3
6-39688534-T-C c.120A>G p.L40= Synonymous 2/23 - 4
6-39688535-A-C c.119T>G p.L40* Nonsense 2/23 - 1
6-39688535-A-T c.119T>A p.L40* Nonsense 2/23 - 2
6-39688547-A-G c.107T>C p.L36S Missense 2/23 - 4
6-39688546-C-T c.108G>A p.L36= Synonymous 2/23 - 1
6-39688548-A-G c.106T>C p.L36= Synonymous 2/23 - 1
6-39688551-T-C c.103A>G p.S35G Missense 2/23 - 3
6-39688553-G-C c.101C>G p.P34R Missense 2/23 - 5
6-39688558-T-A c.96A>T p.L32F Missense 2/23 - 1
6-39688559-A-C c.95T>G p.L32* Nonsense 2/23 - 1
6-39688561-T-G c.93A>C p.K31N Missense 2/23 - 1
6-39688568-T-C c.86A>G p.D29G Missense 2/23 - 1
6-39688569-C-T c.85G>A p.D29N Missense 2/23 - 4
6-39688572-C-T c.82G>A p.E28K Missense 2/23 - 6
6-39688575-C-A c.79G>T p.D27Y Missense 2/23 - 1
6-39688575-C-T c.79G>A p.D27N Missense 2/23 - 1
6-39688580-G-A c.74C>T p.S25F Missense 2/23 - 5
6-39688580-G-T c.74C>A p.S25Y Missense 2/23 - 1
6-39688586-A-G c.68T>C p.I23T Missense 2/23 - 1
6-39688727-T-C c.67-140A>G - IntronicSNV - 1/22 1
6-39688755-C-T c.67-168G>A - IntronicSNV - 1/22 1
6-39689043-C-G c.67-456G>C - IntronicSNV - 1/22 1
6-39689489-C-T c.67-902G>A - IntronicSNV - 1/22 1
6-39689966-G-A c.67-1379C>T - IntronicSNV - 1/22 1
6-39690209-G-A c.67-1622C>T - IntronicSNV - 1/22 1
6-39690234-T-A c.67-1647A>T - IntronicSNV - 1/22 1
6-39690234-T-C c.67-1647A>G - IntronicSNV - 1/22 1
6-39690256-A-G c.67-1669T>C - IntronicSNV - 1/22 1
6-39691493-G-A c.66+1528C>T - IntronicSNV - 1/22 1
6-39691493-G-T c.66+1528C>A - IntronicSNV - 1/22 1
6-39691648-A-C c.66+1373T>G - IntronicSNV - 1/22 1
6-39691734-G-T c.66+1287C>A - IntronicSNV - 1/22 1
6-39691941-A-G c.66+1080T>C - IntronicSNV - 1/22 1
6-39691941-A-T c.66+1080T>A - IntronicSNV - 1/22 1
6-39692045-G-A c.66+976C>T - IntronicSNV - 1/22 1
6-39692045-G-C c.66+976C>G - IntronicSNV - 1/22 1
6-39692045-G-T c.66+976C>A - IntronicSNV - 1/22 1
6-39692175-G-A c.66+846C>T - IntronicSNV - 1/22 1
6-39692768-CA-C c.66+252del - IntronicDeletion - 1/22 1
6-39692849-C-A c.66+172G>T - IntronicSNV - 1/22 1
6-39692849-C-G c.66+172G>C - IntronicSNV - 1/22 1
6-39692915-C-T c.66+106G>A - IntronicSNV - 1/22 1
6-39693022-C-A c.65G>T p.G22V Missense 1/23 - 1
6-39693022-C-G c.65G>C p.G22A Missense 1/23 - 2
6-39693024-T-C c.63A>G p.Q21= Synonymous 1/23 - 1
6-39693026-G-T c.61C>A p.Q21K Missense 1/23 - 1
6-39693030-G-C c.57C>G p.H19Q Missense 1/23 - 1
6-39693030-G-T c.57C>A p.H19Q Missense 1/23 - 1
6-39693032-G-A c.55C>T p.H19Y Missense 1/23 - 1
6-39693033-C-A c.54G>T p.K18N Missense 1/23 - 1
6-39693033-C-G c.54G>C p.K18N Missense 1/23 - 1
6-39693036-C-T c.51G>A p.R17= Synonymous 1/23 - 2
6-39693036-C-A c.51G>T p.R17= Synonymous 1/23 - 1
6-39693036-C-G c.51G>C p.R17= Synonymous 1/23 - 1
6-39693038-G-T c.49C>A p.R17= Synonymous 1/23 - 1
6-39693041-C-A c.46G>T p.V16F Missense 1/23 - 2
6-39693047-G-A c.40C>T p.P14S Missense 1/23 - 1
6-39693048-C-A c.39G>T p.K13N Missense 1/23 - 1
6-39693053-C-A c.34G>T p.V12L Missense 1/23 - 2
6-39693053-C-G c.34G>C p.V12L Missense 1/23 - 1
6-39693054-CCT-ACA c.31_33delinsTGT p.R11C Missense 1/23 - 1
6-39693056-T-G c.31A>C p.R11= Synonymous 1/23 - 1
6-39693057-C-T c.30G>A p.A10= Synonymous 1/23 - 5
6-39693058-G-C c.29C>G p.A10G Missense 1/23 - 1
6-39693059-C-T c.28G>A p.A10T Missense 1/23 - 1
6-39693066-C-T c.21G>A p.Q7= Synonymous 1/23 - 1