ZNF229

ZNF229 zinc finger protein 229

Annotation transcript: NM_014518.4

1083 unique variant annotations were identified in 427 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
19-44930430-G-A c.*2045C>T - 3_prime_UTR_variant 6/6 - 1
19-44930535-G-A c.*1940C>T - 3_prime_UTR_variant 6/6 - 2
19-44930738-T-C c.*1737A>G - 3-UTRSNV 6/6 - 1
19-44930741-T-C c.*1737A>G - 3-UTRSNV 6/6 - 2
19-44930803-C-T c.*1672G>A - 3_prime_UTR_variant 6/6 - 1
19-44930824-G-A c.*1651C>T - 3_prime_UTR_variant 6/6 - 1
19-44930824-G-C c.*1651C>G - 3_prime_UTR_variant 6/6 - 1
19-44930824-G-T c.*1651C>A - 3_prime_UTR_variant 6/6 - 1
19-44930880-G-A c.*1595C>T - 3_prime_UTR_variant 6/6 - 3
19-44931050-G-A c.*1425C>T - 3_prime_UTR_variant 6/6 - 1
19-44931311-G-A c.*1164C>T - 3_prime_UTR_variant 6/6 - 1
19-44931311-G-T c.*1164C>A - 3_prime_UTR_variant 6/6 - 1
19-44931342-A-C c.*1133T>G - 3_prime_UTR_variant 6/6 - 1
19-44931342-A-G c.*1133T>C - 3_prime_UTR_variant 6/6 - 1
19-44931363-G-A c.*1112C>T - 3_prime_UTR_variant 6/6 - 2
19-44931379-C-A c.*1096G>T - 3_prime_UTR_variant 6/6 - 1
19-44931422-G-A c.*1053C>T - 3_prime_UTR_variant 6/6 - 1
19-44931422-G-C c.*1053C>G - 3_prime_UTR_variant 6/6 - 1
19-44931447-T-A c.*1028A>T - 3_prime_UTR_variant 6/6 - 2
19-44931527-C-A c.*948G>T - 3_prime_UTR_variant 6/6 - 2
19-44931527-C-T c.*948G>A - 3_prime_UTR_variant 6/6 - 2
19-44931941-T-C c.*537A>G - 3-UTRSNV 6/6 - 2
19-44931995-C-G c.*483G>C - 3-UTRSNV 6/6 - 2
19-44932323-G-A c.*155C>T - 3-UTRSNV 6/6 - 1
19-44932491-T-A c.2465A>T p.N822I Missense 6/6 - 1
19-44932495-C-T c.2461G>A p.E821K Missense 6/6 - 3
19-44932496-G-A c.2460C>T p.G820= Synonymous 6/6 - 2
19-44932496-G-C c.2460C>G p.G820= Synonymous 6/6 - 1
19-44932496-G-T c.2460C>A p.G820= Synonymous 6/6 - 1
19-44932501-A-C c.2455T>G p.L819V Missense 6/6 - 1
19-44932508-TCT-CCA c.2446_2448delinsTGG p.R816W Missense 6/6 - 1
19-44932509-C-A c.2447G>T p.R816I Missense 6/6 - 1
19-44932512-T-A c.2444A>T p.Q815L Missense 6/6 - 1
19-44932521-C-T c.2435G>A p.R812Q Missense 6/6 - 11
19-44932522-G-A c.2434C>T p.R812W Missense 6/6 - 4
19-44932524-A-T c.2432T>A p.L811Q Missense 6/6 - 2
19-44932539-C-T c.2417G>A p.S806N Missense 6/6 - 2
19-44932540-T-A c.2416A>T p.S806C Missense 6/6 - 2
19-44932541-G-C c.2415C>G p.F805L Missense 6/6 - 1
19-44932541-G-T c.2415C>A p.F805L Missense 6/6 - 1
19-44932543-A-G c.2413T>C p.F805L Missense 6/6 - 1
19-44932544-G-A c.2412C>T p.G804= Synonymous 6/6 - 1
19-44932546-C-G c.2410G>C p.G804R Missense 6/6 - 2
19-44932546-C-T c.2410G>A p.G804S Missense 6/6 - 2
19-44932550-CCC-GCT c.2404_2406delinsAGC p.G802S Missense 6/6 - 1
19-44932550-C-T c.2406G>A p.G802= Synonymous 6/6 - 1
19-44932551-C-T c.2405G>A p.G802E Missense 6/6 - 3
19-44932552-C-T c.2404G>A p.G802R Missense 6/6 - 1
19-44932553-A-C c.2403T>G p.C801W Missense 6/6 - 2
19-44932556-C-A c.2400G>T p.V800= Synonymous 6/6 - 1
19-44932558-C-A c.2398G>T p.V800L Missense 6/6 - 3
19-44932558-C-G c.2398G>C p.V800L Missense 6/6 - 2
19-44932566-G-A c.2390C>T p.T797M Missense 6/6 - 4
19-44932581-C-T c.2375G>A p.G792E Missense 6/6 - 1
19-44932582-C-G c.2374G>C p.G792R Missense 6/6 - 1
19-44932582-C-T c.2374G>A p.G792R Missense 6/6 - 1
19-44932583-AG-CA c.2372_2373delinsTG p.T791M Missense 6/6 - 2
19-44932584-G-T c.2372C>A p.T791N Missense 6/6 - 3
19-44932586-G-A c.2370C>T p.H790= Synonymous 6/6 - 1
19-44932590-A-G c.2366T>C p.V789A Missense 6/6 - 1
19-44932593-C-A c.2363G>T p.R788I Missense 6/6 - 1
19-44932593-C-T c.2363G>A p.R788K Missense 6/6 - 7
19-44932594-T-TA c.2361_2362insT p.R788* Nonsense 6/6 - 1
19-44932600-G-A c.2356C>T p.H786Y Missense 6/6 - 4
19-44932604-A-C c.2352T>G p.H784Q Missense 6/6 - 3
19-44932604-A-T c.2352T>A p.H784Q Missense 6/6 - 4
19-44932611-C-A c.2345G>T p.C782F Missense 6/6 - 1
19-44932611-CA-GT c.2344_2345delinsAC p.C782T Missense 6/6 - 1
19-44932614-G-A c.2342C>T p.S781F Missense 6/6 - 2
19-44932614-G-C c.2342C>G p.S781C Missense 6/6 - 1
19-44932614-G-T c.2342C>A p.S781Y Missense 6/6 - 1
19-44932617-T-G c.2339A>C p.N780T Missense 6/6 - 1
19-44932620-C-T c.2336G>A p.R779H Missense 6/6 - 1
19-44932621-G-A c.2335C>T p.R779C Missense 6/6 - 1
19-44932625-A-C c.2331T>G p.F777L Missense 6/6 - 1
19-44932643-C-T c.2313G>A p.E771= Synonymous 6/6 - 1
19-44932648-A-G c.2308T>C p.C770R Missense 6/6 - 4
19-44932650-T-G c.2306A>C p.K769T Missense 6/6 - 1
19-44932653-T-C c.2303A>G p.Y768C Missense 6/6 - 1
19-44932656-G-A c.2300C>T p.P767L Missense 6/6 - 4
19-44932661-C-A c.2295G>T p.E765D Missense 6/6 - 1
19-44932661-C-T c.2295G>A p.E765= Synonymous 6/6 - 1
19-44932665-C-G c.2291G>C p.G764A Missense 6/6 - 1
19-44932666-C-T c.2290G>A p.G764S Missense 6/6 - 1
19-44932674-A-G c.2282T>C p.V761A Missense 6/6 - 1
19-44932674-A-T c.2282T>A p.V761D Missense 6/6 - 1
19-44932687-C-A c.2269G>T p.G757C Missense 6/6 - 1
19-44932687-C-T c.2269G>A p.G757S Missense 6/6 - 1
19-44932699-A-C c.2257T>G p.S753A Missense 6/6 - 1
19-44932699-A-G c.2257T>C p.S753P Missense 6/6 - 1
19-44932699-A-T c.2257T>A p.S753T Missense 6/6 - 1
19-44932705-G-A c.2251C>T p.Q751* Nonsense 6/6 - 1
19-44932705-G-C c.2251C>G p.Q751E Missense 6/6 - 4
19-44932710-T-A c.2246A>T p.Y749F Missense 6/6 - 1
19-44932712-G-A c.2244C>T p.G748= Synonymous 6/6 - 2
19-44932713-C-G c.2243G>C p.G748A Missense 6/6 - 1
19-44932715-C-T c.2241G>A p.K747= Synonymous 6/6 - 1
19-44932720-C-A c.2236G>T p.G746W Missense 6/6 - 1
19-44932722-C-T c.2234G>A p.C745Y Missense 6/6 - 1
19-44932726-C-T c.2230G>A p.V744M Missense 6/6 - 2
19-44932727-G-A c.2229C>T p.H743= Synonymous 6/6 - 2
19-44932730-G-A c.2226C>T p.C742= Synonymous 6/6 - 1
19-44932736-G-C c.2220C>G p.Y740* Nonsense 6/6 - 1
19-44932736-G-T c.2220C>A p.Y740* Nonsense 6/6 - 1
19-44932742-C-T c.2214G>A p.K738= Synonymous 6/6 - 1
19-44932747-C-T c.2209G>A p.E737K Missense 6/6 - 3
19-44932748-G-A c.2208C>T p.G736= Synonymous 6/6 - 7
19-44932748-G-C c.2208C>G p.G736= Synonymous 6/6 - 5
19-44932748-G-T c.2208C>A p.G736= Synonymous 6/6 - 5
19-44932749-C-T c.2207G>A p.G736D Missense 6/6 - 1
19-44932752-G-T c.2204C>A p.T735N Missense 6/6 - 3
19-44932757-C-A c.2199G>T p.V733= Synonymous 6/6 - 1
19-44932757-C-G c.2199G>C p.V733= Synonymous 6/6 - 1
19-44932757-C-T c.2199G>A p.V733= Synonymous 6/6 - 1
19-44932761-C-T c.2195G>A p.R732K Missense 6/6 - 3
19-44932761-CT-TG c.2194_2195delinsCA p.R732Q Missense 6/6 - 1
19-44932765-T-G c.2191A>C p.K731Q Missense 6/6 - 1
19-44932770-CT-AA c.2185_2186delinsTT p.S729F Missense 6/6 - 1
19-44932775-G-A c.2181C>T p.L727= Synonymous 6/6 - 3
19-44932778-ACC-CCA c.2176_2178delinsTGG p.G726W Missense 6/6 - 1
19-44932782-G-C c.2174C>G p.S725* Nonsense 6/6 - 1
19-44932782-G-T c.2174C>A p.S725* Nonsense 6/6 - 1
19-44932783-A-C c.2173T>G p.S725A Missense 6/6 - 1
19-44932785-C-G c.2171G>C p.G724A Missense 6/6 - 1
19-44932789-A-C c.2167T>G p.Y723D Missense 6/6 - 2
19-44932791-C-T c.2165G>A p.R722K Missense 6/6 - 4
19-44932796-AC-A c.2159del p.G720Vfs*100 Frameshift 6/6 - 1
19-44932799-C-T c.2157G>A p.K719= Synonymous 6/6 - 1
19-44932801-T-TC c.2154dup p.K719Efs*11 Frameshift 6/6 - 1
19-44932808-T-C c.2148A>G p.E716= Synonymous 6/6 - 1
19-44932807-A-AT c.2148dup p.C717Mfs*13 Frameshift 6/6 - 1
19-44932810-C-G c.2146G>C p.E716Q Missense 6/6 - 2
19-44932815-C-G c.2141G>C p.C714S Missense 6/6 - 1
19-44932815-C-T c.2141G>A p.C714Y Missense 6/6 - 1
19-44932824-G-A c.2132C>T p.P711L Missense 6/6 - 2
19-44932825-G-A c.2131C>T p.P711S Missense 6/6 - 1
19-44932829-C-T c.2127G>A p.E709= Synonymous 6/6 - 1
19-44932831-C-G c.2125G>C p.E709Q Missense 6/6 - 1
19-44932831-C-T c.2125G>A p.E709K Missense 6/6 - 2
19-44932843-A-G c.2113T>C p.L705= Synonymous 6/6 - 1
19-44932847-C-A c.2109G>T p.Q703H Missense 6/6 - 1
19-44932851-T-A c.2105A>T p.H702L Missense 6/6 - 1
19-44932852-G-A c.2104C>T p.H702Y Missense 6/6 - 2
19-44932853-G-A c.2103C>T p.T701= Synonymous 6/6 - 1
19-44932853-G-T c.2103C>A p.T701= Synonymous 6/6 - 2
19-44932856-G-A c.2100C>T p.R700= Synonymous 6/6 - 2
19-44932856-G-C c.2100C>G p.R700= Synonymous 6/6 - 2
19-44932856-G-T c.2100C>A p.R700= Synonymous 6/6 - 2
19-44932857-C-A c.2099G>T p.R700L Missense 6/6 - 1
19-44932857-C-T c.2099G>A p.R700H Missense 6/6 - 2
19-44932858-G-A c.2098C>T p.R700C Missense 6/6 - 2
19-44932866-G-A c.2090C>T p.S697F Missense 6/6 - 1
19-44932875-C-T c.2081G>A p.S694N Missense 6/6 - 1
19-44932887-C-A c.2069G>T p.G690V Missense 6/6 - 4
19-44932889-A-C c.2067T>G p.C689W Missense 6/6 - 1
19-44932894-G-A c.2062C>T p.Q688* Nonsense 6/6 - 2
19-44932894-G-C c.2062C>G p.Q688E Missense 6/6 - 1
19-44932895-A-G c.2061T>C p.D687= Synonymous 6/6 - 1
19-44932899-CA-GT c.2056_2057delinsAC p.C686T Missense 6/6 - 1
19-44932899-C-T c.2057G>A p.C686Y Missense 6/6 - 1
19-44932902-G-A c.2054C>T p.T685M Missense 6/6 - 1
19-44932904-A-G c.2052T>C p.Y684= Synonymous 6/6 - 1
19-44932908-G-A c.2048C>T p.P683L Missense 6/6 - 1
19-44932908-GG-AA c.2047_2048delinsTT p.P683F Missense 6/6 - 1
19-44932909-G-A c.2047C>T p.P683S Missense 6/6 - 1
19-44932909-G-GT c.2046_2047insA p.P683Tfs*5 Frameshift 6/6 - 1
19-44932910-C-T c.2046G>A p.K682= Synonymous 6/6 - 1
19-44932912-T-TA c.2043_2044insT p.K682* Nonsense 6/6 - 1
19-44932910-C-CT c.2045dup p.P683Afs*5 Frameshift 6/6 - 4
19-44932917-C-T c.2039G>A p.G680E Missense 6/6 - 10
19-44932918-C-G c.2038G>C p.G680R Missense 6/6 - 2
19-44932918-C-T c.2038G>A p.G680R Missense 6/6 - 5
19-44932919-CGT-ACA c.2035_2037delinsTGT p.T679C Missense 6/6 - 1
19-44932920-G-A c.2036C>T p.T679M Missense 6/6 - 11
19-44932925-G-A c.2031C>T p.V677= Synonymous 6/6 - 1
19-44932929-C-A c.2027G>T p.R676L Missense 6/6 - 1
19-44932929-C-T c.2027G>A p.R676Q Missense 6/6 - 5
19-44932930-G-A c.2026C>T p.R676* Nonsense 6/6 - 3
19-44932933-G-A c.2023C>T p.Q675* Nonsense 6/6 - 2
19-44932959-C-T c.1997G>A p.R666K Missense 6/6 - 1
19-44932964-GCC-CCA c.1990_1992delinsTGG p.G664W Missense 6/6 - 1
19-44932970-T-A c.1986A>T p.G662= Synonymous 6/6 - 2
19-44932970-T-C c.1986A>G p.G662= Synonymous 6/6 - 2
19-44932970-T-G c.1986A>C p.G662= Synonymous 6/6 - 2
19-44932971-C-T c.1985G>A p.G662E Missense 6/6 - 4
19-44932972-C-A c.1984G>T p.G662* Nonsense 6/6 - 10
19-44932972-C-G c.1984G>C p.G662R Missense 6/6 - 4
19-44932972-C-T c.1984G>A p.G662R Missense 6/6 - 34
19-44932973-G-A c.1983C>T p.C661= Synonymous 6/6 - 1
19-44932979-T-A c.1977A>T p.Q659H Missense 6/6 - 1
19-44932979-T-G c.1977A>C p.Q659H Missense 6/6 - 1
19-44932980-T-C c.1976A>G p.Q659R Missense 6/6 - 1
19-44932986-C-T c.1970G>A p.R657K Missense 6/6 - 3
19-44932992-G-A c.1964C>T p.P655L Missense 6/6 - 1
19-44932995-T-C c.1961A>G p.K654R Missense 6/6 - 1
19-44932997-C-A c.1959G>T p.E653D Missense 6/6 - 1
19-44932999-C-T c.1957G>A p.E653K Missense 6/6 - 1
19-44933000-G-A c.1956C>T p.G652= Synonymous 6/6 - 1
19-44933001-C-T c.1955G>A p.G652D Missense 6/6 - 1
19-44933002-C-A c.1954G>T p.G652C Missense 6/6 - 1
19-44933004-G-A c.1952C>T p.T651I Missense 6/6 - 1
19-44933009-G-A c.1947C>T p.V649= Synonymous 6/6 - 4
19-44933009-G-T c.1947C>A p.V649= Synonymous 6/6 - 3
19-44933012-TCT-ACA c.1942_1944delinsTGT p.R648C Missense 6/6 - 1
19-44933013-C-A c.1943G>T p.R648I Missense 6/6 - 1
19-44933020-G-A c.1936C>T p.H646Y Missense 6/6 - 1
19-44933034-G-A c.1922C>T p.S641L Missense 6/6 - 1
19-44933034-G-C c.1922C>G p.S641* Nonsense 6/6 - 1
19-44933034-G-T c.1922C>A p.S641* Nonsense 6/6 - 1
19-44933045-G-A c.1911C>T p.F637= Synonymous 6/6 - 1
19-44933047-A-G c.1909T>C p.F637L Missense 6/6 - 1
19-44933050-C-A c.1906G>T p.G636C Missense 6/6 - 1
19-44933054-G-A c.1902C>T p.G634= Synonymous 6/6 - 2
19-44933054-G-C c.1902C>G p.G634= Synonymous 6/6 - 2
19-44933054-G-T c.1902C>A p.G634= Synonymous 6/6 - 2
19-44933055-C-T c.1901G>A p.G634D Missense 6/6 - 1
19-44933056-C-A c.1900G>T p.G634C Missense 6/6 - 1
19-44933060-C-A c.1896G>T p.E632D Missense 6/6 - 1
19-44933060-C-G c.1896G>C p.E632D Missense 6/6 - 1
19-44933064-GC-CA c.1891_1892delinsTG p.A631C Missense 6/6 - 1
19-44933064-G-T c.1892C>A p.A631D Missense 6/6 - 1
19-44933065-C-CA c.1890dup p.A631Cfs*2 Frameshift 6/6 - 1
19-44933081-C-A c.1875G>T p.E625D Missense 6/6 - 1
19-44933081-C-G c.1875G>C p.E625D Missense 6/6 - 1
19-44933083-C-G c.1873G>C p.E625Q Missense 6/6 - 1
19-44933083-C-T c.1873G>A p.E625K Missense 6/6 - 1
19-44933084-T-A c.1872A>T p.G624= Synonymous 6/6 - 1
19-44933091-T-C c.1865A>G p.H622R Missense 6/6 - 1
19-44933093-G-A c.1863C>T p.V621= Synonymous 6/6 - 3
19-44933097-C-T c.1859G>A p.R620K Missense 6/6 - 3
19-44933099-C-A c.1857G>T p.Q619H Missense 6/6 - 3
19-44933099-C-G c.1857G>C p.Q619H Missense 6/6 - 2
19-44933100-TGATGGATAAGGAGGTCGGAGCTGTAGATGAAACCCTTCCCACACACGTCACACACGTAG-T c.1797_1855del p.Y600Efs*10 InFrameDeletion 6/6 - 1
19-44933102-A-C c.1854T>G p.H618Q Missense 6/6 - 1
19-44933102-A-T c.1854T>A p.H618Q Missense 6/6 - 1
19-44933105-G-A c.1851C>T p.I617= Synonymous 6/6 - 1
19-44933105-G-C c.1851C>G p.I617M Missense 6/6 - 1
19-44933106-GATAAGGAGGTCGGAGCTGTAGATGAAACCCTTCCCACACACGTCACACACGTAGGGCCT-G c.1792_1850del p.R598Pfs*12 InFrameDeletion 6/6 - 1
19-44933109-A-T c.1847T>A p.L616H Missense 6/6 - 1
19-44933110-G-A c.1846C>T p.L616F Missense 6/6 - 3
19-44933113-G-A c.1843C>T p.L615F Missense 6/6 - 1
19-44933113-G-T c.1843C>A p.L615I Missense 6/6 - 1
19-44933116-C-T c.1840G>A p.D614N Missense 6/6 - 4
19-44933117-G-A c.1839C>T p.S613= Synonymous 6/6 - 1
19-44933117-G-C c.1839C>G p.S613= Synonymous 6/6 - 1
19-44933117-G-T c.1839C>A p.S613= Synonymous 6/6 - 1
19-44933120-G-A c.1836C>T p.S612= Synonymous 6/6 - 1
19-44933126-G-A c.1830C>T p.I610= Synonymous 6/6 - 1
19-44933126-G-T c.1830C>A p.I610= Synonymous 6/6 - 1
19-44933129-G-A c.1827C>T p.F609= Synonymous 6/6 - 1
19-44933132-A-G c.1824T>C p.G608= Synonymous 6/6 - 1
19-44933134-C-T c.1822G>A p.G608S Missense 6/6 - 1
19-44933138-C-G c.1818G>C p.G606= Synonymous 6/6 - 1
19-44933146-C-T c.1810G>A p.V604M Missense 6/6 - 1
19-44933147-G-A c.1809C>T p.D603= Synonymous 6/6 - 1
19-44933151-C-T c.1805G>A p.C602Y Missense 6/6 - 1
19-44933152-A-G c.1804T>C p.C602R Missense 6/6 - 1
19-44933155-C-A c.1801G>T p.V601L Missense 6/6 - 1
19-44933155-C-G c.1801G>C p.V601L Missense 6/6 - 1
19-44933156-G-A c.1800C>T p.Y600= Synonymous 6/6 - 7
19-44933159-G-A c.1797C>T p.P599= Synonymous 6/6 - 1
19-44933161-G-T c.1795C>A p.P599T Missense 6/6 - 1
19-44933162-C-T c.1794G>A p.R598= Synonymous 6/6 - 1
19-44933163-C-G c.1793G>C p.R598T Missense 6/6 - 1
19-44933165-C-T c.1791G>A p.E597= Synonymous 6/6 - 1
19-44933169-C-T c.1787G>A p.G596E Missense 6/6 - 2
19-44933170-C-G c.1786G>C p.G596R Missense 6/6 - 1
19-44933170-C-T c.1786G>A p.G596R Missense 6/6 - 2
19-44933171-C-T c.1785G>A p.T595= Synonymous 6/6 - 3
19-44933172-G-A c.1784C>T p.T595M Missense 6/6 - 1
19-44933172-G-T c.1784C>A p.T595K Missense 6/6 - 1
19-44933174-G-A c.1782C>T p.H594= Synonymous 6/6 - 1
19-44933179-C-T c.1777G>A p.V593I Missense 6/6 - 4
19-44933180-C-A c.1776G>T p.R592S Missense 6/6 - 1
19-44933180-C-G c.1776G>C p.R592S Missense 6/6 - 1
19-44933180-C-T c.1776G>A p.R592= Synonymous 6/6 - 2
19-44933182-T-G c.1774A>C p.R592= Synonymous 6/6 - 1
19-44933182-T-C c.1774A>G p.R592G Missense 6/6 - 1
19-44933189-G-A c.1767C>T p.S589= Synonymous 6/6 - 2
19-44933190-C-T c.1766G>A p.S589N Missense 6/6 - 1
19-44933194-G-A c.1762C>T p.H588Y Missense 6/6 - 1
19-44933197-G-A c.1759C>T p.L587F Missense 6/6 - 7
19-44933207-C-T c.1749G>A p.R583= Synonymous 6/6 - 2
19-44933208-C-T c.1748G>A p.R583Q Missense 6/6 - 1
19-44933209-G-A c.1747C>T p.R583W Missense 6/6 - 1
19-44933212-G-A c.1744C>T p.R582W Missense 6/6 - 5
19-44933213-G-C c.1743C>G p.F581L Missense 6/6 - 1
19-44933213-G-T c.1743C>A p.F581L Missense 6/6 - 1
19-44933215-A-G c.1741T>C p.F581L Missense 6/6 - 1
19-44933217-C-T c.1739G>A p.G580D Missense 6/6 - 1
19-44933222-C-G c.1734G>C p.G578= Synonymous 6/6 - 2
19-44933226-C-T c.1730G>A p.C577Y Missense 6/6 - 1
19-44933234-G-A c.1722C>T p.C574= Synonymous 6/6 - 1
19-44933234-G-C c.1722C>G p.C574W Missense 6/6 - 1
19-44933238-T-G c.1718A>C p.K573T Missense 6/6 - 1
19-44933236-AT-A c.1719del p.K573Nfs*247 Frameshift 6/6 - 1
19-44933244-G-A c.1712C>T p.P571L Missense 6/6 - 1
19-44933244-GG-AA c.1711_1712delinsTT p.P571F Missense 6/6 - 1
19-44933245-G-A c.1711C>T p.P571S Missense 6/6 - 2
19-44933246-T-A c.1710A>T p.K570N Missense 6/6 - 2
19-44933246-T-G c.1710A>C p.K570N Missense 6/6 - 1
19-44933249-C-A c.1707G>T p.E569D Missense 6/6 - 3
19-44933249-C-G c.1707G>C p.E569D Missense 6/6 - 1
19-44933253-C-A c.1703G>T p.G568V Missense 6/6 - 2
19-44933253-C-T c.1703G>A p.G568E Missense 6/6 - 1
19-44933254-C-A c.1702G>T p.G568* Nonsense 6/6 - 1
19-44933255-T-A c.1701A>T p.T567= Synonymous 6/6 - 3
19-44933255-T-C c.1701A>G p.T567= Synonymous 6/6 - 2
19-44933255-T-G c.1701A>C p.T567= Synonymous 6/6 - 2
19-44933259-T-TA c.1696_1697insT p.H566Lfs*8 Frameshift 6/6 - 1
19-44933261-G-A c.1695C>T p.V565= Synonymous 6/6 - 1
19-44933261-G-C c.1695C>G p.V565= Synonymous 6/6 - 1
19-44933261-G-T c.1695C>A p.V565= Synonymous 6/6 - 1
19-44933267-C-T c.1689G>A p.Q563= Synonymous 6/6 - 3
19-44933269-G-C c.1687C>G p.Q563E Missense 6/6 - 1
19-44933272-G-A c.1684C>T p.H562Y Missense 6/6 - 2
19-44933278-G-A c.1678C>T p.H560Y Missense 6/6 - 2
19-44933278-G-T c.1678C>A p.H560N Missense 6/6 - 1
19-44933279-G-A c.1677C>T p.L559= Synonymous 6/6 - 1
19-44933282-G-A c.1674C>T p.D558= Synonymous 6/6 - 2
19-44933284-C-T c.1672G>A p.D558N Missense 6/6 - 1
19-44933285-G-A c.1671C>T p.S557= Synonymous 6/6 - 6
19-44933285-G-C c.1671C>G p.S557= Synonymous 6/6 - 5
19-44933285-G-T c.1671C>A p.S557= Synonymous 6/6 - 5
19-44933286-G-A c.1670C>T p.S557F Missense 6/6 - 1
19-44933292-CG-TA c.1663_1664delinsTA p.R555* Nonsense 6/6 - 1
19-44933292-C-T c.1664G>A p.R555Q Missense 6/6 - 2
19-44933291-C-A c.1665G>T p.R555= Synonymous 6/6 - 2
19-44933291-C-G c.1665G>C p.R555= Synonymous 6/6 - 1
19-44933291-C-T c.1665G>A p.R555= Synonymous 6/6 - 1
19-44933293-G-T c.1663C>A p.R555= Synonymous 6/6 - 1
19-44933295-C-G c.1661G>C p.G554A Missense 6/6 - 1
19-44933308-C-A c.1648G>T p.G550W Missense 6/6 - 1
19-44933308-C-G c.1648G>C p.G550R Missense 6/6 - 5
19-44933308-C-T c.1648G>A p.G550R Missense 6/6 - 4
19-44933309-G-A c.1647C>T p.C549= Synonymous 6/6 - 1
19-44933311-A-C c.1645T>G p.C549G Missense 6/6 - 1
19-44933314-C-T c.1642G>A p.E548K Missense 6/6 - 4
19-44933315-G-A c.1641C>T p.C547= Synonymous 6/6 - 1
19-44933324-G-A c.1632C>T p.P544= Synonymous 6/6 - 3
19-44933328-T-G c.1628A>C p.K543T Missense 6/6 - 1
19-44933332-C-G c.1624G>C p.E542Q Missense 6/6 - 1
19-44933332-C-T c.1624G>A p.E542K Missense 6/6 - 1
19-44933334-C-T c.1622G>A p.G541E Missense 6/6 - 4
19-44933335-C-A c.1621G>T p.G541* Nonsense 6/6 - 3
19-44933335-C-G c.1621G>C p.G541R Missense 6/6 - 3
19-44933335-C-T c.1621G>A p.G541R Missense 6/6 - 2
19-44933344-G-C c.1612C>G p.L538V Missense 6/6 - 1
19-44933349-T-C c.1607A>G p.Q536R Missense 6/6 - 1
19-44933354-C-A c.1602G>T p.M534I Missense 6/6 - 1
19-44933354-C-G c.1602G>C p.M534I Missense 6/6 - 1
19-44933354-C-T c.1602G>A p.M534I Missense 6/6 - 1
19-44933356-T-C c.1600A>G p.M534V Missense 6/6 - 1
19-44933356-T-G c.1600A>C p.M534L Missense 6/6 - 1
19-44933357-G-A c.1599C>T p.L533= Synonymous 6/6 - 1
19-44933359-G-C c.1597C>G p.L533V Missense 6/6 - 1
19-44933359-G-T c.1597C>A p.L533I Missense 6/6 - 2
19-44933363-C-T c.1593G>A p.G531= Synonymous 6/6 - 1
19-44933365-C-G c.1591G>C p.G531R Missense 6/6 - 1
19-44933395-C-T c.1561G>A p.V521M Missense 6/6 - 1
19-44933396-G-A c.1560C>T p.N520= Synonymous 6/6 - 1
19-44933410-G-C c.1546C>G p.L516V Missense 6/6 - 1
19-44933411-A-C c.1545T>G p.H515Q Missense 6/6 - 1
19-44933411-A-T c.1545T>A p.H515Q Missense 6/6 - 1
19-44933416-G-A c.1540C>T p.Q514* Nonsense 6/6 - 1
19-44933417-C-A c.1539G>T p.G513= Synonymous 6/6 - 1
19-44933417-C-G c.1539G>C p.G513= Synonymous 6/6 - 1
19-44933417-C-T c.1539G>A p.G513= Synonymous 6/6 - 1
19-44933419-C-G c.1537G>C p.G513R Missense 6/6 - 5
19-44933419-C-T c.1537G>A p.G513R Missense 6/6 - 3
19-44933416-GC-G c.1539del p.Q514Sfs*306 Frameshift 6/6 - 2
19-44933435-G-A c.1521C>T p.H507= Synonymous 6/6 - 2
19-44933440-C-T c.1516G>A p.A506T Missense 6/6 - 2
19-44933443-G-T c.1513C>A p.Q505K Missense 6/6 - 2
19-44933448-T-C c.1508A>G p.Y503C Missense 6/6 - 1
19-44933448-T-G c.1508A>C p.Y503S Missense 6/6 - 1
19-44933450-C-T c.1506G>A p.S502= Synonymous 6/6 - 2
19-44933454-T-C c.1502A>G p.N501S Missense 6/6 - 1
19-44933457-T-C c.1499A>G p.H500R Missense 6/6 - 1
19-44933458-G-A c.1498C>T p.H500Y Missense 6/6 - 3
19-44933458-G-T c.1498C>A p.H500N Missense 6/6 - 1
19-44933459-A-G c.1497T>C p.S499= Synonymous 6/6 - 4
19-44933464-A-T c.1492T>A p.F498I Missense 6/6 - 1
19-44933465-A-C c.1491T>G p.G497= Synonymous 6/6 - 2
19-44933465-A-G c.1491T>C p.G497= Synonymous 6/6 - 3
19-44933472-C-T c.1484G>A p.G495D Missense 6/6 - 1
19-44933480-G-C c.1476C>G p.D492E Missense 6/6 - 1
19-44933480-G-T c.1476C>A p.D492E Missense 6/6 - 1
19-44933484-CA-GT c.1471_1472delinsAC p.C491T Missense 6/6 - 1
19-44933485-A-C c.1471T>G p.C491G Missense 6/6 - 1
19-44933488-G-A c.1468C>T p.Q490* Nonsense 6/6 - 1
19-44933497-T-A c.1459A>T p.R487W Missense 6/6 - 1
19-44933498-C-A c.1458G>T p.E486D Missense 6/6 - 1
19-44933498-C-G c.1458G>C p.E486D Missense 6/6 - 1
19-44933500-C-A c.1456G>T p.E486* Nonsense 6/6 - 1
19-44933501-G-A c.1455C>T p.G485= Synonymous 6/6 - 1
19-44933501-GC-G c.1454del p.G485Afs*335 Frameshift 6/6 - 1
19-44933503-C-A c.1453G>T p.G485C Missense 6/6 - 1
19-44933503-C-T c.1453G>A p.G485S Missense 6/6 - 8
19-44933504-G-A c.1452C>T p.T484= Synonymous 6/6 - 9
19-44933504-G-C c.1452C>G p.T484= Synonymous 6/6 - 7
19-44933504-G-T c.1452C>A p.T484= Synonymous 6/6 - 2
19-44933513-C-A c.1443G>T p.K481N Missense 6/6 - 5
19-44933513-C-G c.1443G>C p.K481N Missense 6/6 - 2
19-44933518-G-A c.1438C>T p.Q480* Nonsense 6/6 - 2
19-44933521-G-A c.1435C>T p.H479Y Missense 6/6 - 1
19-44933528-G-A c.1428C>T p.L476= Synonymous 6/6 - 1
19-44933528-G-C c.1428C>G p.L476= Synonymous 6/6 - 1
19-44933528-G-T c.1428C>A p.L476= Synonymous 6/6 - 1
19-44933534-G-T c.1422C>A p.S474= Synonymous 6/6 - 1
19-44933535-G-C c.1421C>G p.S474C Missense 6/6 - 3
19-44933538-C-G c.1418G>C p.S473T Missense 6/6 - 1
19-44933544-C-T c.1412G>A p.S471N Missense 6/6 - 1
19-44933551-C-T c.1405G>A p.G469R Missense 6/6 - 4
19-44933552-C-T c.1404G>A p.K468= Synonymous 6/6 - 2
19-44933556-C-T c.1400G>A p.G467E Missense 6/6 - 1
19-44933557-C-T c.1399G>A p.G467R Missense 6/6 - 1
19-44933559-C-T c.1397G>A p.C466Y Missense 6/6 - 1
19-44933564-G-A c.1392C>T p.G464= Synonymous 6/6 - 2
19-44933564-G-T c.1392C>A p.G464= Synonymous 6/6 - 1
19-44933565-C-T c.1391G>A p.G464D Missense 6/6 - 2
19-44933575-A-T c.1381T>A p.Y461N Missense 6/6 - 5
19-44933576-G-A c.1380C>T p.P460= Synonymous 6/6 - 1
19-44933576-G-T c.1380C>A p.P460= Synonymous 6/6 - 1
19-44933579-C-A c.1377G>T p.K459N Missense 6/6 - 1
19-44933579-C-T c.1377G>A p.K459= Synonymous 6/6 - 1
19-44933580-T-C c.1376A>G p.K459R Missense 6/6 - 1
19-44933581-T-G c.1375A>C p.K459Q Missense 6/6 - 1
19-44933584-C-A c.1372G>T p.E458* Nonsense 6/6 - 1
19-44933584-C-T c.1372G>A p.E458K Missense 6/6 - 1
19-44933586-C-T c.1370G>A p.G457E Missense 6/6 - 1
19-44933587-C-A c.1369G>T p.G457* Nonsense 6/6 - 1
19-44933587-C-T c.1369G>A p.G457R Missense 6/6 - 1
19-44933589-G-A c.1367C>T p.P456L Missense 6/6 - 3
19-44933589-G-T c.1367C>A p.P456H Missense 6/6 - 2
19-44933591-G-A c.1365C>T p.H455= Synonymous 6/6 - 3
19-44933593-G-A c.1363C>T p.H455Y Missense 6/6 - 2
19-44933594-A-G c.1362T>C p.I454= Synonymous 6/6 - 1
19-44933594-A-T c.1362T>A p.I454= Synonymous 6/6 - 1
19-44933602-G-A c.1354C>T p.Q452* Nonsense 6/6 - 1
19-44933603-G-A c.1353C>T p.H451= Synonymous 6/6 - 3
19-44933607-T-A c.1349A>T p.K450I Missense 6/6 - 3
19-44933609-G-A c.1347C>T p.H449= Synonymous 6/6 - 1
19-44933611-G-A c.1345C>T p.H449Y Missense 6/6 - 2
19-44933612-C-T c.1344G>A p.L448= Synonymous 6/6 - 1
19-44933617-C-A c.1339G>T p.A447S Missense 6/6 - 1
19-44933619-G-T c.1337C>A p.S446Y Missense 6/6 - 3
19-44933628-C-A c.1328G>T p.C443F Missense 6/6 - 2
19-44933628-C-T c.1328G>A p.C443Y Missense 6/6 - 2
19-44933634-C-A c.1322G>T p.G441V Missense 6/6 - 1
19-44933635-C-T c.1321G>A p.G441S Missense 6/6 - 1
19-44933641-C-T c.1315G>A p.G439S Missense 6/6 - 1
19-44933645-C-A c.1311G>T p.E437D Missense 6/6 - 2
19-44933645-C-G c.1311G>C p.E437D Missense 6/6 - 2
19-44933647-C-T c.1309G>A p.E437K Missense 6/6 - 4
19-44933652-C-T c.1304G>A p.C435Y Missense 6/6 - 1
19-44933654-G-A c.1302C>T p.T434= Synonymous 6/6 - 1
19-44933654-G-C c.1302C>G p.T434= Synonymous 6/6 - 4
19-44933654-G-T c.1302C>A p.T434= Synonymous 6/6 - 1
19-44933663-C-T c.1293G>A p.K431= Synonymous 6/6 - 1
19-44933668-C-T c.1288G>A p.E430K Missense 6/6 - 1
19-44933669-C-T c.1287G>A p.G429= Synonymous 6/6 - 3
19-44933670-C-A c.1286G>T p.G429V Missense 6/6 - 1
19-44933671-C-A c.1285G>T p.G429W Missense 6/6 - 1
19-44933671-CCT-C c.1284_1285del p.K431Afs*61 Frameshift 6/6 - 2
19-44933672-T-A c.1284A>T p.T428= Synonymous 6/6 - 3
19-44933672-T-C c.1284A>G p.T428= Synonymous 6/6 - 3
19-44933672-T-G c.1284A>C p.T428= Synonymous 6/6 - 3
19-44933673-G-A c.1283C>T p.T428I Missense 6/6 - 3
19-44933677-G-A c.1279C>T p.H427Y Missense 6/6 - 1
19-44933678-CAG-AAA c.1276_1278delinsTTT p.L426F Missense 6/6 - 1
19-44933686-G-A c.1270C>T p.Q424* Nonsense 6/6 - 1
19-44933689-TGG-T c.1266_1267del p.H423Sfs*69 Frameshift 6/6 - 2
19-44933691-A-G c.1265T>C p.V422A Missense 6/6 - 1
19-44933692-C-T c.1264G>A p.V422I Missense 6/6 - 1
19-44933694-T-A c.1262A>T p.Q421L Missense 6/6 - 1
19-44933694-T-G c.1262A>C p.Q421P Missense 6/6 - 1
19-44933695-G-A c.1261C>T p.Q421* Nonsense 6/6 - 2
19-44933695-G-C c.1261C>G p.Q421E Missense 6/6 - 1
19-44933702-TG-AT c.1253_1254delinsAT p.S418Y Missense 6/6 - 1
19-44933705-G-A c.1251C>T p.S417= Synonymous 6/6 - 2
19-44933705-G-C c.1251C>G p.S417R Missense 6/6 - 2
19-44933706-C-T c.1250G>A p.S417N Missense 6/6 - 18
19-44933706-CT-AA c.1249_1250delinsTT p.S417F Missense 6/6 - 1
19-44933706-CT-TA c.1249_1250delinsTA p.S417Y Missense 6/6 - 1
19-44933708-G-C c.1248C>G p.Y416* Nonsense 6/6 - 1
19-44933708-G-T c.1248C>A p.Y416* Nonsense 6/6 - 2
19-44933709-T-C c.1247A>G p.Y416C Missense 6/6 - 1
19-44933716-A-T c.1240T>A p.F414I Missense 6/6 - 1
19-44933718-C-T c.1238G>A p.G413D Missense 6/6 - 3
19-44933722-T-C c.1234A>G p.K412E Missense 6/6 - 2
19-44933724-C-T c.1232G>A p.G411E Missense 6/6 - 2
19-44933727-C-T c.1229G>A p.C410Y Missense 6/6 - 1
19-44933728-A-G c.1228T>C p.C410R Missense 6/6 - 1
19-44933731-C-T c.1225G>A p.E409K Missense 6/6 - 1
19-44933732-G-A c.1224C>T p.S408= Synonymous 6/6 - 1
19-44933736-CA-GT c.1219_1220delinsAC p.C407T Missense 6/6 - 1
19-44933745-G-A c.1211C>T p.P404L Missense 6/6 - 5
19-44933753-TC-GT c.1202_1203delinsAC p.G401D Missense 6/6 - 1
19-44933756-A-C c.1200T>G p.T400= Synonymous 6/6 - 1
19-44933756-A-G c.1200T>C p.T400= Synonymous 6/6 - 1
19-44933756-A-T c.1200T>A p.T400= Synonymous 6/6 - 1
19-44933758-T-C c.1198A>G p.T400A Missense 6/6 - 1
19-44933758-T-G c.1198A>C p.T400P Missense 6/6 - 1
19-44933761-G-A c.1195C>T p.H399Y Missense 6/6 - 1
19-44933761-G-T c.1195C>A p.H399N Missense 6/6 - 2
19-44933764-C-T c.1192G>A p.V398I Missense 6/6 - 1
19-44933765-CCT-ATG c.1189_1191delinsCAT p.R397H Missense 6/6 - 1
19-44933766-C-T c.1190G>A p.R397K Missense 6/6 - 3
19-44933767-T-C c.1189A>G p.R397G Missense 6/6 - 1
19-44933771-A-C c.1185T>G p.H395Q Missense 6/6 - 2
19-44933771-A-T c.1185T>A p.H395Q Missense 6/6 - 2
19-44933773-G-A c.1183C>T p.H395Y Missense 6/6 - 2
19-44933774-G-A c.1182C>T p.V394= Synonymous 6/6 - 3
19-44933774-G-C c.1182C>G p.V394= Synonymous 6/6 - 1
19-44933779-G-T c.1177C>A p.L393I Missense 6/6 - 1
19-44933782-G-C c.1174C>G p.L392V Missense 6/6 - 1
19-44933783-G-A c.1173C>T p.N391= Synonymous 6/6 - 1
19-44933783-G-C c.1173C>G p.N391K Missense 6/6 - 1
19-44933783-G-T c.1173C>A p.N391K Missense 6/6 - 1
19-44933784-T-C c.1172A>G p.N391S Missense 6/6 - 1
19-44933786-T-A c.1170A>T p.S390= Synonymous 6/6 - 1
19-44933786-T-C c.1170A>G p.S390= Synonymous 6/6 - 1
19-44933786-T-G c.1170A>C p.S390= Synonymous 6/6 - 1
19-44933787-G-A c.1169C>T p.S390L Missense 6/6 - 2
19-44933793-C-T c.1163G>A p.R388Q Missense 6/6 - 3
19-44933794-G-A c.1162C>T p.R388* Nonsense 6/6 - 9
19-44933794-G-C c.1162C>G p.R388G Missense 6/6 - 1
19-44933796-C-T c.1160G>A p.G387D Missense 6/6 - 1
19-44933799-A-G c.1157T>C p.F386S Missense 6/6 - 1
19-44933808-C-A c.1148G>T p.G383V Missense 6/6 - 2
19-44933809-C-A c.1147G>T p.G383W Missense 6/6 - 1
19-44933809-C-T c.1147G>A p.G383R Missense 6/6 - 1
19-44933811-C-T c.1145G>A p.C382Y Missense 6/6 - 2
19-44933815-C-T c.1141G>A p.E381K Missense 6/6 - 1
19-44933816-C-T c.1140G>A p.E380= Synonymous 6/6 - 2
19-44933818-C-T c.1138G>A p.E380K Missense 6/6 - 1
19-44933820-C-T c.1136G>A p.C379Y Missense 6/6 - 1
19-44933826-T-C c.1130A>G p.Y377C Missense 6/6 - 4
19-44933826-T-G c.1130A>C p.Y377S Missense 6/6 - 1
19-44933827-A-C c.1129T>G p.Y377D Missense 6/6 - 2
19-44933829-G-T c.1127C>A p.P376H Missense 6/6 - 1
19-44933830-G-T c.1126C>A p.P376T Missense 6/6 - 1
19-44933846-CAC-GAT c.1108_1110delinsATC p.V370I Missense 6/6 - 1
19-44933846-C-T c.1110G>A p.V370= Synonymous 6/6 - 1
19-44933853-T-C c.1103A>G p.Q368R Missense 6/6 - 2
19-44933857-G-T c.1099C>A p.H367N Missense 6/6 - 1
19-44933860-AT-A c.1096del p.I366Ffs*454 Frameshift 6/6 - 1
19-44933863-G-C c.1093C>G p.L365V Missense 6/6 - 3
19-44933864-A-G c.1092T>C p.L364= Synonymous 6/6 - 1
19-44933869-C-A c.1087G>T p.V363F Missense 6/6 - 1
19-44933869-C-G c.1087G>C p.V363L Missense 6/6 - 2
19-44933871-G-A c.1085C>T p.S362L Missense 6/6 - 10
19-44933874-T-G c.1082A>C p.K361T Missense 6/6 - 1
19-44933883-A-G c.1073T>C p.F358S Missense 6/6 - 2
19-44933887-C-G c.1069G>C p.G357R Missense 6/6 - 2
19-44933887-C-T c.1069G>A p.G357R Missense 6/6 - 2
19-44933888-C-T c.1068G>A p.K356= Synonymous 6/6 - 2
19-44933891-T-A c.1065A>T p.G355= Synonymous 6/6 - 2
19-44933891-T-C c.1065A>G p.G355= Synonymous 6/6 - 2
19-44933891-T-G c.1065A>C p.G355= Synonymous 6/6 - 2
19-44933892-C-T c.1064G>A p.G355E Missense 6/6 - 2
19-44933893-C-T c.1063G>A p.G355R Missense 6/6 - 1
19-44933895-C-A c.1061G>T p.C354F Missense 6/6 - 1
19-44933895-C-T c.1061G>A p.C354Y Missense 6/6 - 1
19-44933897-G-A c.1059C>T p.V353= Synonymous 6/6 - 1
19-44933901-T-A c.1055A>T p.D352V Missense 6/6 - 3
19-44933907-C-A c.1049G>T p.R350I Missense 6/6 - 3
19-44933907-C-G c.1049G>C p.R350T Missense 6/6 - 1
19-44933913-G-A c.1043C>T p.P348L Missense 6/6 - 1
19-44933914-G-A c.1042C>T p.P348S Missense 6/6 - 1
19-44933917-T-A c.1039A>T p.M347L Missense 6/6 - 1
19-44933917-T-G c.1039A>C p.M347L Missense 6/6 - 1
19-44933919-T-A c.1037A>T p.D346V Missense 6/6 - 2
19-44933919-T-C c.1037A>G p.D346G Missense 6/6 - 1
19-44933920-C-T c.1036G>A p.D346N Missense 6/6 - 1
19-44933921-TC-GT c.1034_1035delinsAC p.G345D Missense 6/6 - 1
19-44933922-C-T c.1034G>A p.G345E Missense 6/6 - 4
19-44933924-C-G c.1032G>C p.V344= Synonymous 6/6 - 1
19-44933929-G-A c.1027C>T p.P343S Missense 6/6 - 1
19-44933930-G-A c.1026C>T p.A342= Synonymous 6/6 - 1
19-44933932-C-T c.1024G>A p.A342T Missense 6/6 - 2
19-44933933-TCT-ATG c.1021_1023delinsCAT p.R341H Missense 6/6 - 1
19-44933937-G-C c.1019C>G p.P340R Missense 6/6 - 1
19-44933937-GG-AA c.1018_1019delinsTT p.P340F Missense 6/6 - 1
19-44933938-G-A c.1018C>T p.P340S Missense 6/6 - 2
19-44933939-G-A c.1017C>T p.H339= Synonymous 6/6 - 1
19-44933941-G-T c.1015C>A p.H339N Missense 6/6 - 1
19-44933942-G-A c.1014C>T p.N338= Synonymous 6/6 - 1
19-44933945-A-C c.1011T>G p.R337= Synonymous 6/6 - 2
19-44933945-A-G c.1011T>C p.R337= Synonymous 6/6 - 2
19-44933945-A-T c.1011T>A p.R337= Synonymous 6/6 - 2
19-44933946-C-T c.1010G>A p.R337H Missense 6/6 - 3
19-44933947-G-A c.1009C>T p.R337C Missense 6/6 - 26
19-44933950-T-C c.1006A>G p.I336V Missense 6/6 - 1
19-44933954-C-A c.1002G>T p.T334= Synonymous 6/6 - 1
19-44933954-C-G c.1002G>C p.T334= Synonymous 6/6 - 1
19-44933954-C-T c.1002G>A p.T334= Synonymous 6/6 - 1
19-44933963-TCT-ACA c.991_993delinsTGT p.R331C Missense 6/6 - 5
19-44933964-C-A c.992G>T p.R331I Missense 6/6 - 4
19-44933964-C-T c.992G>A p.R331K Missense 6/6 - 1
19-44933968-AC-A c.988del p.V330Sfs*490 Frameshift 6/6 - 1
19-44933968-C-T c.988G>A p.V330I Missense 6/6 - 4
19-44933969-G-A c.987C>T p.G329= Synonymous 6/6 - 1
19-44933969-G-C c.987C>G p.G329= Synonymous 6/6 - 1
19-44933969-G-T c.987C>A p.G329= Synonymous 6/6 - 1
19-44933973-C-A c.983G>T p.R328L Missense 6/6 - 2
19-44933973-C-T c.983G>A p.R328Q Missense 6/6 - 1
19-44933972-C-A c.984G>T p.R328= Synonymous 6/6 - 1
19-44933972-C-G c.984G>C p.R328= Synonymous 6/6 - 1
19-44933972-C-T c.984G>A p.R328= Synonymous 6/6 - 1
19-44933974-G-A c.982C>T p.R328W Missense 6/6 - 12
19-44933974-G-T c.982C>A p.R328= Synonymous 6/6 - 1
19-44933977-C-G c.979G>C p.G327R Missense 6/6 - 1
19-44933979-C-T c.977G>A p.R326H Missense 6/6 - 4
19-44933980-G-A c.976C>T p.R326C Missense 6/6 - 1
19-44933993-A-C c.963T>G p.V321= Synonymous 6/6 - 1
19-44933993-A-G c.963T>C p.V321= Synonymous 6/6 - 1
19-44933993-A-T c.963T>A p.V321= Synonymous 6/6 - 1
19-44933996-A-C c.960T>G p.S320= Synonymous 6/6 - 1
19-44933996-A-G c.960T>C p.S320= Synonymous 6/6 - 1
19-44933996-A-T c.960T>A p.S320= Synonymous 6/6 - 1
19-44933997-G-A c.959C>T p.S320F Missense 6/6 - 4
19-44934002-C-T c.954G>A p.E318= Synonymous 6/6 - 2
19-44934004-C-G c.952G>C p.E318Q Missense 6/6 - 2
19-44934005-T-A c.951A>T p.G317= Synonymous 6/6 - 1
19-44934005-T-C c.951A>G p.G317= Synonymous 6/6 - 1
19-44934005-T-G c.951A>C p.G317= Synonymous 6/6 - 1
19-44934007-C-T c.949G>A p.G317R Missense 6/6 - 1
19-44934011-G-A c.945C>T p.P315= Synonymous 6/6 - 1
19-44934011-G-C c.945C>G p.P315= Synonymous 6/6 - 1
19-44934011-G-T c.945C>A p.P315= Synonymous 6/6 - 1
19-44934012-G-A c.944C>T p.P315L Missense 6/6 - 1
19-44934013-G-A c.943C>T p.P315S Missense 6/6 - 3
19-44934018-C-T c.938G>A p.R313K Missense 6/6 - 4
19-44934020-T-A c.936A>T p.Q312H Missense 6/6 - 1
19-44934020-T-G c.936A>C p.Q312H Missense 6/6 - 1
19-44934025-G-A c.931C>T p.H311Y Missense 6/6 - 1
19-44934027-C-G c.929G>C p.R310T Missense 6/6 - 2
19-44934034-G-C c.922C>G p.L308V Missense 6/6 - 1
19-44934054-C-T c.902G>A p.G301D Missense 6/6 - 2
19-44934055-C-A c.901G>T p.G301C Missense 6/6 - 1
19-44934057-T-G c.899A>C p.E300A Missense 6/6 - 1
19-44934067-C-A c.889G>T p.E297* Nonsense 6/6 - 2
19-44934068-A-C c.888T>G p.D296E Missense 6/6 - 1
19-44934068-A-T c.888T>A p.D296E Missense 6/6 - 1
19-44934070-C-T c.886G>A p.D296N Missense 6/6 - 5
19-44934075-T-C c.881A>G p.Q294R Missense 6/6 - 2
19-44934076-G-C c.880C>G p.Q294E Missense 6/6 - 1
19-44934078-C-T c.878G>A p.C293Y Missense 6/6 - 1
19-44934080-G-A c.876C>T p.L292= Synonymous 6/6 - 1
19-44934083-T-C c.873A>G p.K291= Synonymous 6/6 - 1
19-44934084-T-C c.872A>G p.K291R Missense 6/6 - 1
19-44934086-C-A c.870G>T p.E290D Missense 6/6 - 2
19-44934086-C-G c.870G>C p.E290D Missense 6/6 - 2
19-44934086-C-T c.870G>A p.E290= Synonymous 6/6 - 1
19-44934090-T-A c.866A>T p.K289I Missense 6/6 - 1
19-44934092-C-A c.864G>T p.L288F Missense 6/6 - 5
19-44934092-C-G c.864G>C p.L288F Missense 6/6 - 3
19-44934097-G-C c.859C>G p.P287A Missense 6/6 - 1
19-44934101-TCT-CCA c.853_855delinsTGG p.R285W Missense 6/6 - 1
19-44934106-G-A c.850C>T p.P284S Missense 6/6 - 1
19-44934110-C-A c.846G>T p.P282= Synonymous 6/6 - 2
19-44934110-C-G c.846G>C p.P282= Synonymous 6/6 - 2
19-44934110-C-T c.846G>A p.P282= Synonymous 6/6 - 5
19-44934117-A-T c.839T>A p.L280H Missense 6/6 - 1
19-44934121-C-G c.835G>C p.D279H Missense 6/6 - 1
19-44934126-T-A c.830A>T p.D277V Missense 6/6 - 1
19-44934127-C-T c.829G>A p.D277N Missense 6/6 - 4
19-44934128-G-A c.828C>T p.D276= Synonymous 6/6 - 3
19-44934132-CT-TA c.823_824delinsTA p.R275* Nonsense 6/6 - 1
19-44934132-CT-TG c.823_824delinsCA p.R275Q Missense 6/6 - 1
19-44934144-C-A c.812G>T p.R271I Missense 6/6 - 1
19-44934144-C-T c.812G>A p.R271K Missense 6/6 - 1
19-44934150-T-C c.806A>G p.E269G Missense 6/6 - 1
19-44934151-C-A c.805G>T p.E269* Nonsense 6/6 - 1
19-44934151-C-T c.805G>A p.E269K Missense 6/6 - 6
19-44934155-A-C c.801T>G p.S267R Missense 6/6 - 1
19-44934155-A-T c.801T>A p.S267R Missense 6/6 - 1
19-44934157-T-G c.799A>C p.S267R Missense 6/6 - 1
19-44934156-C-T c.800G>A p.S267N Missense 6/6 - 1
19-44934156-CT-AA c.799_800delinsTT p.S267F Missense 6/6 - 1
19-44934156-CT-AG c.799_800inv p.S267L Missense 6/6 - 1
19-44934161-C-T c.795G>A p.L265= Synonymous 6/6 - 1
19-44934163-A-G c.793T>C p.L265= Synonymous 6/6 - 1
19-44934170-C-T c.786G>A p.E262= Synonymous 6/6 - 1
19-44934171-T-C c.785A>G p.E262G Missense 6/6 - 1
19-44934173-T-A c.783A>T p.G261= Synonymous 6/6 - 1
19-44934173-T-C c.783A>G p.G261= Synonymous 6/6 - 3
19-44934173-T-G c.783A>C p.G261= Synonymous 6/6 - 1
19-44934174-C-T c.782G>A p.G261E Missense 6/6 - 1
19-44934175-C-A c.781G>T p.G261* Nonsense 6/6 - 1
19-44934175-C-T c.781G>A p.G261R Missense 6/6 - 1
19-44934177-G-T c.779C>A p.P260H Missense 6/6 - 1
19-44934185-G-C c.771C>G p.R257= Synonymous 6/6 - 1
19-44934186-CG-AT c.769_770delinsAT p.R257I Missense 6/6 - 1
19-44934186-C-T c.770G>A p.R257H Missense 6/6 - 2
19-44934187-G-A c.769C>T p.R257C Missense 6/6 - 6
19-44934190-G-A c.766C>T p.H256Y Missense 6/6 - 1
19-44934190-G-C c.766C>G p.H256D Missense 6/6 - 1
19-44934196-C-T c.760G>A p.V254I Missense 6/6 - 1
19-44934197-A-C c.759T>G p.S253= Synonymous 6/6 - 1
19-44934197-A-G c.759T>C p.S253= Synonymous 6/6 - 1
19-44934197-A-T c.759T>A p.S253= Synonymous 6/6 - 1
19-44934198-G-C c.758C>G p.S253C Missense 6/6 - 1
19-44934198-G-T c.758C>A p.S253Y Missense 6/6 - 1
19-44934199-A-G c.757T>C p.S253P Missense 6/6 - 1
19-44934203-T-A c.753A>T p.K251N Missense 6/6 - 1
19-44934203-T-G c.753A>C p.K251N Missense 6/6 - 1
19-44934204-T-C c.752A>G p.K251R Missense 6/6 - 1
19-44934210-CA-GT c.745_746delinsAC p.C249T Missense 6/6 - 1
19-44934211-A-G c.745T>C p.C249R Missense 6/6 - 1
19-44934217-T-A c.739A>T p.K247* Nonsense 6/6 - 1
19-44934218-TCT-ACA c.736_738delinsTGT p.R246C Missense 6/6 - 1
19-44934219-C-T c.737G>A p.R246K Missense 6/6 - 1
19-44934222-C-G c.734G>C p.C245S Missense 6/6 - 6
19-44934223-A-T c.733T>A p.C245S Missense 6/6 - 5
19-44934225-T-G c.731A>C p.K244T Missense 6/6 - 1
19-44934231-C-T c.725G>A p.C242Y Missense 6/6 - 1
19-44934236-A-C c.720T>G p.C240W Missense 6/6 - 3
19-44934238-A-C c.718T>G p.C240G Missense 6/6 - 1
19-44934239-C-T c.717G>A p.P239= Synonymous 6/6 - 1
19-44934240-G-A c.716C>T p.P239L Missense 6/6 - 1
19-44934244-T-G c.712A>C p.K238Q Missense 6/6 - 1
19-44934247-C-G c.709G>C p.D237H Missense 6/6 - 1
19-44934248-T-A c.708A>T p.I236= Synonymous 6/6 - 2
19-44934248-T-G c.708A>C p.I236= Synonymous 6/6 - 2
19-44934249-A-G c.707T>C p.I236T Missense 6/6 - 1
19-44934253-C-T c.703G>A p.E235K Missense 6/6 - 1
19-44934254-A-C c.702T>G p.P234= Synonymous 6/6 - 3
19-44934254-A-G c.702T>C p.P234= Synonymous 6/6 - 3
19-44934254-A-T c.702T>A p.P234= Synonymous 6/6 - 2
19-44934256-G-A c.700C>T p.P234S Missense 6/6 - 3
19-44934257-G-A c.699C>T p.F233= Synonymous 6/6 - 2
19-44934258-A-G c.698T>C p.F233S Missense 6/6 - 1
19-44934261-C-T c.695G>A p.R232K Missense 6/6 - 2
19-44934262-T-A c.694A>T p.R232* Nonsense 6/6 - 1
19-44934266-A-C c.690T>G p.D230E Missense 6/6 - 1
19-44934266-A-T c.690T>A p.D230E Missense 6/6 - 1
19-44934272-A-C c.684T>G p.H228Q Missense 6/6 - 1
19-44934274-G-A c.682C>T p.H228Y Missense 6/6 - 1
19-44934277-A-G c.679T>C p.C227R Missense 6/6 - 1
19-44934279-G-A c.677C>T p.S226F Missense 6/6 - 1
19-44934283-T-A c.673A>T p.I225L Missense 6/6 - 2
19-44934283-T-C c.673A>G p.I225V Missense 6/6 - 1
19-44934283-T-G c.673A>C p.I225L Missense 6/6 - 1
19-44934284-C-A c.672G>T p.W224C Missense 6/6 - 4
19-44934284-C-G c.672G>C p.W224C Missense 6/6 - 5
19-44934284-C-T c.672G>A p.W224* Nonsense 6/6 - 5
19-44934285-C-T c.671G>A p.W224* Nonsense 6/6 - 1
19-44934288-C-G c.668G>C p.C223S Missense 6/6 - 2
19-44934289-A-T c.667T>A p.C223S Missense 6/6 - 1
19-44934291-A-T c.665T>A p.F222Y Missense 6/6 - 4
19-44934301-C-T c.655G>A p.D219N Missense 6/6 - 6
19-44934304-C-A c.652G>T p.D218Y Missense 6/6 - 1
19-44934304-C-T c.652G>A p.D218N Missense 6/6 - 3
19-44934307-A-AG c.648dup p.W217Lfs*3 Frameshift 6/6 - 1
19-44934315-T-G c.641A>C p.K214T Missense 6/6 - 3
19-44934324-G-A c.632C>T p.T211I Missense 6/6 - 2
19-44934325-T-A c.631A>T p.T211S Missense 6/6 - 1
19-44934331-C-T c.625G>A p.E209K Missense 6/6 - 2
19-44934337-C-A c.619G>T p.D207Y Missense 6/6 - 1
19-44934337-C-T c.619G>A p.D207N Missense 6/6 - 1
19-44934338-G-A c.618C>T p.L206= Synonymous 6/6 - 2
19-44934338-G-C c.618C>G p.L206= Synonymous 6/6 - 1
19-44934338-G-T c.618C>A p.L206= Synonymous 6/6 - 1
19-44934340-G-C c.616C>G p.L206V Missense 6/6 - 2
19-44934343-T-G c.613A>C p.N205H Missense 6/6 - 1
19-44934344-T-C c.612A>G p.K204= Synonymous 6/6 - 2
19-44934346-T-A c.610A>T p.K204* Nonsense 6/6 - 1
19-44934348-CA-GT c.607_608delinsAC p.C203T Missense 6/6 - 1
19-44934348-C-T c.608G>A p.C203Y Missense 6/6 - 1
19-44934355-C-G c.601G>C p.E201Q Missense 6/6 - 2
19-44934355-C-T c.601G>A p.E201K Missense 6/6 - 1
19-44934361-C-CA c.594dup p.V199Cfs*6 Frameshift 6/6 - 1
19-44934374-G-A c.582C>T p.N194= Synonymous 6/6 - 1
19-44934381-A-G c.575T>C p.F192S Missense 6/6 - 1
19-44934379-C-CA c.576dup p.V193Cfs*12 Frameshift 6/6 - 1
19-44934383-C-A c.573G>T p.A191= Synonymous 6/6 - 1
19-44934383-C-G c.573G>C p.A191= Synonymous 6/6 - 1
19-44934383-C-T c.573G>A p.A191= Synonymous 6/6 - 2
19-44934384-G-A c.572C>T p.A191V Missense 6/6 - 1
19-44934389-T-A c.567A>T p.A189= Synonymous 6/6 - 1
19-44934389-T-C c.567A>G p.A189= Synonymous 6/6 - 1
19-44934389-T-G c.567A>C p.A189= Synonymous 6/6 - 1
19-44934390-G-A c.566C>T p.A189V Missense 6/6 - 1
19-44934391-C-A c.565G>T p.A189S Missense 6/6 - 1
19-44934393-C-T c.563G>A p.W188* Nonsense 6/6 - 1
19-44934394-A-T c.562T>A p.W188R Missense 6/6 - 1
19-44934396-G-A c.560C>T p.S187F Missense 6/6 - 1
19-44934399-C-T c.557G>A p.G186E Missense 6/6 - 2
19-44934400-C-G c.556G>C p.G186R Missense 6/6 - 1
19-44934400-C-T c.556G>A p.G186R Missense 6/6 - 5
19-44934403-G-C c.553C>G p.Q185E Missense 6/6 - 1
19-44934405-A-T c.551T>A p.I184N Missense 6/6 - 1
19-44934408-G-A c.548C>T p.P183L Missense 6/6 - 2
19-44934410-G-A c.546C>T p.I182= Synonymous 6/6 - 1
19-44934414-G-A c.542C>T p.P181L Missense 6/6 - 1
19-44934415-G-A c.541C>T p.P181S Missense 6/6 - 1
19-44934426-C-A c.530G>T p.R177I Missense 6/6 - 1
19-44934426-C-T c.530G>A p.R177K Missense 6/6 - 1
19-44934426-CT-TG c.529_530delinsCA p.R177Q Missense 6/6 - 1
19-44934428-C-T c.528G>A p.W176* Nonsense 6/6 - 2
19-44934431-G-A c.525C>T p.A175= Synonymous 6/6 - 1
19-44934431-G-C c.525C>G p.A175= Synonymous 6/6 - 1
19-44934431-G-T c.525C>A p.A175= Synonymous 6/6 - 1
19-44934433-C-A c.523G>T p.A175S Missense 6/6 - 1
19-44934435-G-A c.521C>T p.P174L Missense 6/6 - 1
19-44934436-G-C c.520C>G p.P174A Missense 6/6 - 2
19-44934440-C-A c.516G>T p.Q172H Missense 6/6 - 2
19-44934440-C-G c.516G>C p.Q172H Missense 6/6 - 1
19-44934448-T-TA c.507_508insT p.N170* Nonsense 6/6 - 1
19-44934451-C-G c.505G>C p.E169Q Missense 6/6 - 2
19-44934454-G-T c.502C>A p.L168I Missense 6/6 - 2
19-44934458-G-A c.498C>T p.I166= Synonymous 6/6 - 3
19-44934458-G-T c.498C>A p.I166= Synonymous 6/6 - 3
19-44934463-G-A c.493C>T p.L165F Missense 6/6 - 3
19-44934464-C-A c.492G>T p.G164= Synonymous 6/6 - 1
19-44934471-C-T c.485G>A p.G162E Missense 6/6 - 4
19-44934475-G-A c.481C>T p.Q161* Nonsense 6/6 - 1
19-44934475-G-C c.481C>G p.Q161E Missense 6/6 - 2
19-44934475-G-T c.481C>A p.Q161K Missense 6/6 - 1
19-44934476-T-A c.480A>T p.L160= Synonymous 6/6 - 1
19-44934476-T-C c.480A>G p.L160= Synonymous 6/6 - 1
19-44934476-T-G c.480A>C p.L160= Synonymous 6/6 - 1
19-44934478-G-A c.478C>T p.L160= Synonymous 6/6 - 1
19-44934479-A-C c.477T>G p.S159R Missense 6/6 - 2
19-44934479-A-T c.477T>A p.S159R Missense 6/6 - 2
19-44934481-T-G c.475A>C p.S159R Missense 6/6 - 2
19-44934480-C-A c.476G>T p.S159I Missense 6/6 - 1
19-44934485-C-T c.471G>A p.L157= Synonymous 6/6 - 1
19-44934487-G-A c.469C>T p.L157= Synonymous 6/6 - 3
19-44934488-G-A c.468C>T p.F156= Synonymous 6/6 - 2
19-44934489-G-A c.467C>T p.F156F Missense 6/6 - 28
19-44934491-A-G c.465T>C p.N155= Synonymous 6/6 - 1
19-44934494-C-A c.462G>T p.E154D Missense 6/6 - 1
19-44934494-C-T c.462G>A p.E154= Synonymous 6/6 - 1
19-44934496-C-G c.460G>C p.E154Q Missense 6/6 - 1
19-44934497-A-C c.459T>G p.I153M Missense 6/6 - 3
19-44934498-A-G c.458T>C p.I153T Missense 6/6 - 1
19-44934499-T-C c.457A>G p.I153V Missense 6/6 - 3
19-44934502-G-A c.454C>T p.P152S Missense 6/6 - 4
19-44934502-G-T c.454C>A p.P152T Missense 6/6 - 2
19-44934508-A-G c.448T>C p.C150R Missense 6/6 - 1
19-44934510-G-A c.446C>T p.P149L Missense 6/6 - 4
19-44934512-C-T c.444G>A p.T148= Synonymous 6/6 - 1
19-44934513-G-A c.443C>T p.T148M Missense 6/6 - 7
19-44934519-G-A c.437C>T p.A146V Missense 6/6 - 1
19-44934522-C-T c.434G>A p.G145E Missense 6/6 - 2
19-44934523-C-G c.433G>C p.G145R Missense 6/6 - 1
19-44934523-C-T c.433G>A p.G145R Missense 6/6 - 1
19-44934527-C-T c.429G>A p.W143* Nonsense 6/6 - 2
19-44934528-C-G c.428G>C p.W143S Missense 6/6 - 1
19-44934529-A-C c.427T>G p.W143G Missense 6/6 - 1
19-44934529-A-G c.427T>C p.W143R Missense 6/6 - 1
19-44934529-A-T c.427T>A p.W143R Missense 6/6 - 1
19-44934532-C-A c.424G>T p.G142W Missense 6/6 - 1
19-44934535-G-A c.421C>T p.Q141* Nonsense 6/6 - 1
19-44934535-G-C c.421C>G p.Q141E Missense 6/6 - 1
19-44934538-G-A c.418C>T p.H140Y Missense 6/6 - 4
19-44934541-G-A c.415C>T p.P139S Missense 6/6 - 3
19-44934543-G-A c.413C>T p.A138V Missense 6/6 - 1
19-44934548-A-G c.408T>C p.D136= Synonymous 6/6 - 1
19-44934549-T-A c.407A>T p.D136V Missense 6/6 - 1
19-44934557-G-A c.399C>T p.F133= Synonymous 6/6 - 2
19-44934561-T-A c.395A>T p.Q132L Missense 6/6 - 1
19-44934562-G-T c.394C>A p.Q132K Missense 6/6 - 2
19-44934568-C-G c.388G>C p.D130H Missense 6/6 - 1
19-44934571-T-A c.385A>T p.K129* Nonsense 6/6 - 2
19-44934572-T-A c.384A>T p.G128= Synonymous 6/6 - 1
19-44934573-CC-TT c.382_383delinsAA p.G128K Missense 6/6 - 1
19-44934574-C-T c.382G>A p.G128R Missense 6/6 - 1
19-44934577-G-T c.379C>A p.Q127K Missense 6/6 - 3
19-44934585-A-G c.371T>C p.V124A Missense 6/6 - 1
19-44934589-T-G c.367A>C p.R123= Synonymous 6/6 - 1
19-44934591-C-G c.365G>C p.C122S Missense 6/6 - 1
19-44934592-A-T c.364T>A p.C122S Missense 6/6 - 1
19-44934595-C-T c.361G>A p.D121N Missense 6/6 - 1
19-44934596-T-C c.360A>G p.Q120= Synonymous 6/6 - 1
19-44934603-C-T c.353G>A p.G118E Missense 6/6 - 1
19-44934606-G-A c.350C>T p.P117L Missense 6/6 - 1
19-44934606-GG-AA c.349_350delinsTT p.P117F Missense 6/6 - 1
19-44934609-A-G c.347T>C p.L116S Missense 6/6 - 2
19-44934612-T-C c.344A>G p.E115G Missense 6/6 - 1
19-44934613-C-T c.343G>A p.E115K Missense 6/6 - 2
19-44934614-A-G c.342T>C p.G114= Synonymous 6/6 - 1
19-44934616-C-G c.340G>C p.G114R Missense 6/6 - 1
19-44934619-C-A c.337G>T p.A113S Missense 6/6 - 1
19-44934621-A-T c.335T>A p.V112E Missense 6/6 - 3
19-44934623-C-T c.333G>A p.E111= Synonymous 6/6 - 3
19-44934627-TC-GT c.328_329delinsAC p.E110T Missense 6/6 - 1
19-44934627-T-G c.329A>C p.E110A Missense 6/6 - 1
19-44934628-C-T c.328G>A p.E110K Missense 6/6 - 6
19-44934632-G-A c.324C>T p.I108= Synonymous 6/6 - 3
19-44934632-G-C c.324C>G p.I108M Missense 6/6 - 5
19-44934641-T-A c.315A>T p.S105= Synonymous 6/6 - 1
19-44934641-T-C c.315A>G p.S105= Synonymous 6/6 - 1
19-44934641-T-G c.315A>C p.S105= Synonymous 6/6 - 1
19-44934644-G-A c.312C>T p.S104= Synonymous 6/6 - 1
19-44934650-C-T c.306G>A p.E102= Synonymous 6/6 - 1
19-44934652-C-A c.304G>T p.E102* Nonsense 6/6 - 1
19-44934653-T-C c.303A>G p.K101= Synonymous 6/6 - 12
19-44934656-G-A c.300C>T p.H100= Synonymous 6/6 - 2
19-44934657-T-A c.299A>T p.H100L Missense 6/6 - 1
19-44934658-G-A c.298C>T p.H100Y Missense 6/6 - 2
19-44934659-T-A c.297A>T p.S99= Synonymous 6/6 - 1
19-44934659-T-C c.297A>G p.S99= Synonymous 6/6 - 1
19-44934659-T-G c.297A>C p.S99= Synonymous 6/6 - 1
19-44934660-G-A c.296C>T p.S99L Missense 6/6 - 1
19-44934663-A-G c.293T>C p.F98S Missense 6/6 - 1
19-44934663-A-T c.293T>A p.F98Y Missense 6/6 - 1
19-44934665-G-A c.291C>T p.F97= Synonymous 6/6 - 1
19-44934665-G-C c.291C>G p.F97L Missense 6/6 - 4
19-44934665-G-T c.291C>A p.F97L Missense 6/6 - 2
19-44934667-A-G c.289T>C p.F97L Missense 6/6 - 2
19-44934669-CT-C c.286del p.R96Gfs*29 Frameshift 6/6 - 3
19-44934679-C-T c.277G>A p.E93K Missense 6/6 - 3
19-44934680-A-C c.276T>G p.D92E Missense 6/6 - 1
19-44934680-A-G c.276T>C p.D92= Synonymous 6/6 - 4
19-44934680-A-T c.276T>A p.D92E Missense 6/6 - 1
19-44934685-G-C c.271C>G p.Q91E Missense 6/6 - 1
19-44934688-AT-A c.268del p.I90Ffs*6 Frameshift 6/6 - 1
19-44934694-C-T c.262G>A p.E88K Missense 6/6 - 4
19-44934700-C-G c.256G>C p.D86H Missense 6/6 - 1
19-44934700-C-T c.256G>A p.D86N Missense 6/6 - 6
19-44934705-C-T c.251G>A p.G84E Missense 6/6 - 6
19-44934706-C-T c.250G>A p.G84R Missense 6/6 - 5
19-44934710-C-A c.246G>T p.K82N Missense 6/6 - 1
19-44934711-T-G c.245A>C p.K82T Missense 6/6 - 1
19-44934712-T-A c.244A>T p.K82* Nonsense 6/6 - 1
19-44934713-G-A c.243C>T p.D81= Synonymous 6/6 - 1
19-44934842-G-A c.239-125C>T - IntronicSNV - 5/5 3
19-44934842-G-C c.239-125C>G - IntronicSNV - 5/5 3
19-44935844-G-C c.238+553C>G - IntronicSNV - 5/5 1
19-44935925-G-T c.238+472C>A - IntronicSNV - 5/5 1
19-44936245-A-G c.238+152T>C - IntronicSNV - 5/5 3
19-44936271-T-A c.238+126A>T - IntronicSNV - 5/5 1
19-44936357-C-A c.238+40G>T - IntronicSNV - 5/5 1
19-44936358-C-A c.238+39G>T - IntronicSNV - 5/5 1
19-44936390-C-T c.238+7G>A - IntronicSNV - 5/5 1
19-44936398-C-A c.237G>T p.L79= Synonymous 5/6 - 1
19-44936398-C-G c.237G>C p.L79= Synonymous 5/6 - 1
19-44936398-C-T c.237G>A p.L79= Synonymous 5/6 - 1
19-44936400-G-A c.235C>T p.L79= Synonymous 5/6 - 1
19-44936402-G-C c.233C>G p.P78R Missense 5/6 - 1
19-44936403-G-A c.232C>T p.P78S Missense 5/6 - 4
19-44936407-C-T c.228G>A p.R76= Synonymous 5/6 - 3
19-44936412-C-T c.223G>A p.E75K Missense 5/6 - 1
19-44936415-C-G c.220G>C p.G74R Missense 5/6 - 1
19-44936415-C-T c.220G>A p.G74S Missense 5/6 - 1
19-44936416-C-T c.219G>A p.V73= Synonymous 5/6 - 2
19-44936419-TGA-GTT c.214_216delinsAAC p.S72N Missense 5/6 - 1
19-44936420-G-A c.215C>T p.S72L Missense 5/6 - 2
19-44936420-G-C c.215C>G p.S72* Nonsense 5/6 - 2
19-44936420-G-T c.215C>A p.S72* Nonsense 5/6 - 1
19-44936426-A-G c.209T>C p.L70P Missense 5/6 - 1
19-44936428-G-A c.207C>T p.N69= Synonymous 5/6 - 1
19-44936431-CC-GA c.203_204delinsTC p.R68I Missense 5/6 - 1
19-44936434-G-A c.201C>T p.F67= Synonymous 5/6 - 3
19-44936435-A-C c.200T>G p.F67C Missense 5/6 - 1
19-44936435-A-G c.200T>C p.F67S Missense 5/6 - 1
19-44936440-C-A c.195G>T p.E65D Missense 5/6 - 1
19-44936440-C-T c.195G>A p.E65= Synonymous 5/6 - 1
19-44936443-C-G c.192G>C p.Q64H Missense 5/6 - 2
19-44936445-G-C c.190C>G p.Q64E Missense 5/6 - 1
19-44936448-T-G c.187A>C p.M63L Missense 5/6 - 1
19-44936449-C-G c.186G>C p.V62= Synonymous 5/6 - 1
19-44936454-C-T c.181G>A p.D61N Missense 5/6 - 2
19-44936458-G-A c.177C>T p.Y59= Synonymous 5/6 - 1
19-44936465-T-A c.170A>T p.Q57L Missense 5/6 - 1
19-44936465-T-C c.170A>G p.Q57R Missense 5/6 - 1
19-44936477-G-A c.158C>T p.S53F Missense 5/6 - 2
19-44936477-G-C c.158C>G p.S53C Missense 5/6 - 1
19-44936482-C-T c.153G>A p.L51= Synonymous 5/6 - 1
19-44936487-G-T c.148C>A p.L50M Missense 5/6 - 1
19-44936490-C-G c.145G>C p.E49Q Missense 5/6 - 1
19-44936495-T-A c.140A>T p.E47V Missense 5/6 - 1
19-44936495-T-C c.140A>G p.E47G Missense 5/6 - 3
19-44936496-C-A c.139G>T p.E47* Nonsense 5/6 - 2
19-44936496-C-T c.139G>A p.E47K Missense 5/6 - 2
19-44936498-T-G c.137A>C p.E46A Missense 5/6 - 5
19-44936499-C-T c.136G>A p.E46K Missense 5/6 - 1
19-44936500-C-T c.135G>A p.E45= Synonymous 5/6 - 1
19-44936499-CCT-C c.134_135del p.E45Gfs*30 Frameshift 5/6 - 1
19-44936506-G-A c.129C>T p.F43= Synonymous 5/6 - 1
19-44936506-G-C c.129C>G p.F43L Missense 5/6 - 1
19-44936506-G-T c.129C>A p.F43L Missense 5/6 - 2
19-44936508-A-G c.127T>C p.F43L Missense 5/6 - 2
19-44936512-C-A c.123G>T p.V41= Synonymous 5/6 - 1
19-44936512-C-G c.123G>C p.V41= Synonymous 5/6 - 1
19-44936512-C-T c.123G>A p.V41= Synonymous 5/6 - 1
19-44936513-A-G c.122T>C p.V41A Missense 5/6 - 3
19-44936516-G-A c.119C>T p.A40V Missense 5/6 - 5
19-44936516-G-T c.119C>A p.A40D Missense 5/6 - 1
19-44936518-CAC-AAA c.115_117delinsTTT p.V39F Missense 5/6 - 1
19-44936520-C-A c.115G>T p.V39L Missense 5/6 - 1
19-44936522-T-C c.113A>G p.D38G Missense 5/6 - 1
19-44936523-C-A c.112G>T p.D38Y Missense 5/6 - 1
19-44936527-G-A c.108C>T p.F36= Synonymous 5/6 - 2
19-44936528-A-C c.107T>G p.F36C Missense 5/6 - 1
19-44936527-G-C c.108C>G p.F36L Missense 5/6 - 1
19-44936527-G-T c.108C>A p.F36L Missense 5/6 - 1
19-44936529-A-G c.106T>C p.F36L Missense 5/6 - 1
19-44936530-G-C c.105C>G p.S35R Missense 5/6 - 5
19-44936530-G-T c.105C>A p.S35R Missense 5/6 - 5
19-44936532-T-G c.103A>C p.S35R Missense 5/6 - 7
19-44936531-C-G c.104G>C p.S35T Missense 5/6 - 1
19-44936533-C-T c.102G>A p.L34= Synonymous 5/6 - 1
19-44936535-A-G c.100T>C p.L34= Synonymous 5/6 - 1
19-44936538-G-A c.97C>T p.P33S Missense 5/6 - 1
19-44936541-C-G c.94G>C p.E32Q Missense 5/6 - 1
19-44936541-C-T c.94G>A p.E32K Missense 5/6 - 1
19-44936692-T-G c.94-151A>C - IntronicSNV - 4/5 1
19-44943107-G-A c.93+3640C>T - IntronicSNV - 4/5 1
19-44943107-G-T c.93+3640C>A - IntronicSNV - 4/5 1
19-44946747-CCT-C c.92_93del p.Q31Rfs*14 SpliceDonorDeletion 4/6 - 1
19-44946749-G-A c.91C>T p.Q31* Nonsense 4/6 - 2
19-44946756-G-A c.84C>T p.I28= Synonymous 4/6 - 2
19-44946757-A-T c.83T>A p.I28N Missense 4/6 - 1
19-44946760-T-C c.80A>G p.K27R Missense 4/6 - 1
19-44946762-C-A c.78G>T p.E26D Missense 4/6 - 2
19-44946762-C-G c.78G>C p.E26D Missense 4/6 - 1
19-44946764-C-A c.76G>T p.E26* Nonsense 4/6 - 1
19-44946764-C-T c.76G>A p.E26K Missense 4/6 - 1
19-44946765-C-T c.75G>A p.E25= Synonymous 4/6 - 1
19-44946768-C-A c.72G>T p.R24S Missense 4/6 - 1
19-44946768-C-G c.72G>C p.R24S Missense 4/6 - 1
19-44946768-C-T c.72G>A p.R24= Synonymous 4/6 - 1
19-44946770-T-G c.70A>C p.R24= Synonymous 4/6 - 1
19-44946769-C-A c.71G>T p.R24M Missense 4/6 - 1
19-44946773-C-A c.67G>T p.D23Y Missense 4/6 - 1
19-44946773-C-T c.67G>A p.D23N Missense 4/6 - 5
19-44946780-A-G c.60T>C p.I20= Synonymous 4/6 - 1
19-44946780-A-T c.60T>A p.I20= Synonymous 4/6 - 1
19-44946778-G-GA c.61dup p.S21Ffs*4 Frameshift 4/6 - 1
19-44946782-T-A c.58A>T p.I20F Missense 4/6 - 1
19-44946783-G-A c.57C>T p.A19= Synonymous 4/6 - 1
19-44946783-G-C c.57C>G p.A19= Synonymous 4/6 - 1
19-44946783-GG-CT c.56_57delinsAG p.A19E Missense 4/6 - 2
19-44946783-G-T c.57C>A p.A19= Synonymous 4/6 - 2
19-44946784-G-T c.56C>A p.A19D Missense 4/6 - 2
19-44946785-C-A c.55G>T p.A19S Missense 4/6 - 1
19-44946787-G-A c.53C>T p.S18L Missense 4/6 - 1
19-44946789-G-A c.51C>T p.A17= Synonymous 4/6 - 2
19-44946789-G-C c.51C>G p.A17= Synonymous 4/6 - 2
19-44946789-GGC-CAT c.49_51delinsATG p.A17M Missense 4/6 - 1
19-44946789-GGC-TTA c.49_51delinsTAA p.A17* Nonsense 4/6 - 3
19-44946789-GGC-TTG c.49_51delinsCAA p.A17Q Missense 4/6 - 1
19-44946789-G-T c.51C>A p.A17= Synonymous 4/6 - 2
19-44946790-G-A c.50C>T p.A17V Missense 4/6 - 4
19-44946791-C-T c.49G>A p.A17T Missense 4/6 - 1
19-44946794-G-C c.46C>G p.Q16E Missense 4/6 - 1
19-44946794-G-T c.46C>A p.Q16K Missense 4/6 - 2
19-44946795-A-T c.45T>A p.S15= Synonymous 4/6 - 1
19-44946796-G-A c.44C>T p.S15F Missense 4/6 - 1
19-44946796-G-C c.44C>G p.S15C Missense 4/6 - 3
19-44946800-G-A c.40C>T p.H14Y Missense 4/6 - 4
19-44946801-A-C c.39T>G p.L13= Synonymous 4/6 - 2
19-44946801-A-G c.39T>C p.L13= Synonymous 4/6 - 1
19-44946973-A-C c.34+25T>G - IntronicSNV - 3/5 2
19-44946977-A-C c.34+21T>G - IntronicSNV - 3/5 3
19-44946983-T-C c.34+15A>G - IntronicSNV - 3/5 2
19-44946997-C-A c.34+1G>T - IntronicSNV - 3/5 1
19-44946998-C-T c.34G>A p.A12T Missense 3/6 - 1
19-44947000-C-T c.32G>A p.R11K Missense 3/6 - 1
19-44947002-T-C c.30A>G p.K10= Synonymous 3/6 - 1
19-44947003-T-C c.29A>G p.K10R Missense 3/6 - 3
19-44947008-A-G c.24T>C p.H8= Synonymous 3/6 - 1
19-44947010-G-A c.22C>T p.H8Y Missense 3/6 - 1
19-44947012-C-A c.20G>T p.R7M Missense 3/6 - 1
19-44947012-C-T c.20G>A p.R7K Missense 3/6 - 1
19-44947012-CT-TG c.19_20delinsCA p.R7Q Missense 3/6 - 1
19-44947018-G-C c.14C>G p.T5S Missense 3/6 - 1
19-44947019-T-A c.13A>T p.T5S Missense 3/6 - 3
19-44947019-T-C c.13A>G p.T5A Missense 3/6 - 1
19-44947030-A-G c.2T>C p.M1? Missense 3/6 - 2
19-44947050-T-C c.-19A>G - 5-UTRSNV 3/6 - 5
19-44947184-T-C c.-153A>G - 5-UTRSNV 3/6 - 5
19-44947184-T-G c.-153A>C - 5-UTRSNV 3/6 - 5
19-44947197-T-C c.-166A>G - 5-UTRSNV 3/6 - 2
19-44947214-G-A c.-177-6C>T - IntronicSNV - 2/5 2
19-44948014-C-A c.-177-806G>T - IntronicSNV - 2/5 1
19-44948014-C-T c.-177-806G>A - IntronicSNV - 2/5 1