SLC4A1 solute carrier family 4 member 1 (Diego blood group)

Canonical transcript: NM_000342

427 unique variant annotations were identified in 280 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-42327493-G-T c.*333C>A - 3-UTRSNV 20/20 - 4
17-42327517-G-T c.*309C>A - 3-UTRSNV 20/20 - 1
17-42327829-C-T c.2733G>A p.Val911Val Synonymous 20/20 - 1
17-42327836-A-G c.2726T>C p.Met909Thr Missense 20/20 - 7
17-42327836-AT-GC c.2725_2726delinsGC p.Met909Ala Missense 20/20 - 1
17-42327842-A-G c.2720T>C p.Val907Ala Missense 20/20 - 2
17-42327846-C-A c.2716G>T p.Glu906* Nonsense 20/20 - 1
17-42327846-C-G c.2716G>C p.Glu906Gln Missense 20/20 - 1
17-42327846-C-T c.2716G>A p.Glu906Lys Missense 20/20 - 1
17-42327851-T-A c.2711A>T p.Tyr904Phe Missense 20/20 - 1
17-42327851-TA-CC c.2710_2711delinsGG p.Tyr904Gly Missense 20/20 - 1
17-42327851-TA-GC c.2710_2711delinsGC p.Tyr904Ala Missense 20/20 - 6
17-42327858-C-T c.2704G>A p.Asp902Asn Missense 20/20 - 1
17-42327860-CG-TA c.2701_2702delinsTA p.Arg901* Nonsense 20/20 - 22
17-42327861-G-A c.2701C>T p.Arg901Trp Missense 20/20 - 1
17-42327868-C-T c.2694G>A p.Glu898Glu Synonymous 20/20 - 1
17-42327874-A-G c.2688T>C p.Asp896Asp Synonymous 20/20 - 1
17-42327886-CTT-TGT c.2675_2676delinsCA p.Lys892Thr Missense 20/20 - 1
17-42327899-GC-CT c.2662_2663delinsAG p.Ala888Ser Missense 20/20 - 6
17-42328526-C-T c.2655+1G>A - IntronicSNV - 19/19 1
17-42328558-G-A c.2624C>T p.Pro875Leu Missense 19/20 - 1
17-42328559-G-C c.2623C>G p.Pro875Ala Missense 19/20 - 1
17-42328574-G-A c.2608C>T p.Arg870Trp Missense 19/20 - 4
17-42328574-G-T c.2608C>A p.Arg870Arg Synonymous 19/20 - 1
17-42328579-G-A c.2603C>T p.Pro868Leu Missense 19/20 - 2
17-42328598-C-T c.2584G>A p.Val862Ile Missense 19/20 - 3
17-42328609-GC-TG c.2572_2573delinsCA p.Ala858His Missense 19/20 - 1
17-42328609-G-T c.2573C>A p.Ala858Asp Missense 19/20 - 24
17-42328621-G-A c.2561C>T p.Pro854Leu Missense 19/20 - 16
17-42328621-G-T c.2561C>A p.Pro854Gln Missense 19/20 - 7
17-42328624-G-A c.2558C>T p.Thr853Met Missense 19/20 - 1
17-42328627-G-C c.2555C>G p.Ser852Cys Missense 19/20 - 1
17-42328654-CA-GC c.2527_2528delinsGC p.Cys843Ala Missense 19/20 - 2
17-42328662-CTG-TGT c.2518_2520delinsACA p.Gln840Thr Missense 19/20 - 1
17-42328669-C-G c.2513G>C p.Gly838Ala Missense 19/20 - 2
17-42328672-G-A c.2510C>T p.Thr837Met Missense 19/20 - 3
17-42328681-T-G c.2501A>C p.His834Pro Missense 19/20 - 2
17-42328687-C-A c.2495G>T p.Arg832Leu Missense 19/20 - 1
17-42328687-C-T c.2495G>A p.Arg832His Missense 19/20 - 1
17-42328695-C-T c.2487G>A p.Lys829Lys Synonymous 19/20 - 1
17-42328845-C-A c.2423G>T p.Arg808Leu Missense 18/20 - 1
17-42328845-C-T c.2423G>A p.Arg808His Missense 18/20 - 3
17-42328846-G-A c.2422C>T p.Arg808Cys Missense 18/20 - 3
17-42328851-A-C c.2417T>G p.Phe806Cys Missense 18/20 - 1
17-42328852-A-G c.2416T>C p.Phe806Leu Missense 18/20 - 1
17-42328860-AT-TG c.2407_2408delinsCA p.Ile803His Missense 18/20 - 1
17-42328872-G-A c.2396C>T p.Ser799Leu Missense 18/20 - 1
17-42328882-C-G c.2386G>C p.Gly796Arg Missense 18/20 - 16
17-42328887-T-C c.2381A>G p.Tyr794Cys Missense 18/20 - 1
17-42328893-AA-GC c.2374_2375delinsGC p.Phe792Ala Missense 18/20 - 1
17-42328900-C-A c.2368G>T p.Gly790Cys Missense 18/20 - 1
17-42328917-G-A c.2351C>T p.Pro784Leu Missense 18/20 - 1
17-42328920-A-T c.2348T>A p.Ile783Asn Missense 18/20 - 2
17-42328951-A-G c.2317T>C p.Ser773Pro Missense 18/20 - 13
17-42329004-A-C c.2312-48T>G - IntronicSNV - 17/19 1
17-42329004-A-T c.2312-48T>A - IntronicSNV - 17/19 1
17-42330122-C-T c.2311+364G>A - IntronicSNV - 17/19 4
17-42330171-A-C c.2311+315T>G - IntronicSNV - 17/19 4
17-42330510-C-T c.2287G>A p.Gly763Arg Missense 17/20 - 2
17-42330511-A-C c.2286T>G p.Ser762Arg Missense 17/20 - 6
17-42330511-A-T c.2286T>A p.Ser762Arg Missense 17/20 - 6
17-42330513-T-G c.2284A>C p.Ser762Arg Missense 17/20 - 6
17-42330513-T-A c.2284A>T p.Ser762Cys Missense 17/20 - 1
17-42330518-C-T c.2279G>A p.Arg760Gln Missense 17/20 - 16
17-42330519-G-A c.2278C>T p.Arg760Trp Missense 17/20 - 2
17-42330520-C-A c.2277G>T p.Gln759His Missense 17/20 - 5
17-42330520-C-G c.2277G>C p.Gln759His Missense 17/20 - 5
17-42330525-C-T c.2272G>A p.Glu758Lys Missense 17/20 - 13
17-42330595-A-C c.2202T>G p.His734Gln Missense 17/20 - 2
17-42330595-A-T c.2202T>A p.His734Gln Missense 17/20 - 2
17-42330596-T-C c.2201A>G p.His734Arg Missense 17/20 - 18
17-42330605-G-C c.2192C>G p.Ser731Cys Missense 17/20 - 2
17-42330606-A-G c.2191T>C p.Ser731Pro Missense 17/20 - 17
17-42330607-ACG-AAG c.2189delinsT p.Arg730Leu Missense 17/20 - 1
17-42330607-ACG-GAG c.2189_2190delinsTC p.Arg730Leu Missense 17/20 - 1
17-42330608-CG-AT c.2188_2189delinsAT p.Arg730Ile Missense 17/20 - 1
17-42330608-C-T c.2189G>A p.Arg730His Missense 17/20 - 1
17-42330609-G-A c.2188C>T p.Arg730Cys Missense 17/20 - 13
17-42330622-A-C c.2175T>G p.Ser725Arg Missense 17/20 - 1
17-42330622-A-T c.2175T>A p.Ser725Arg Missense 17/20 - 1
17-42330624-T-G c.2173A>C p.Ser725Arg Missense 17/20 - 1
17-42330623-CT-GC c.2173_2174delinsGC p.Ser725Ala Missense 17/20 - 1
17-42330624-T-A c.2173A>T p.Ser725Cys Missense 17/20 - 2
17-42330629-C-A c.2168G>T p.Trp723Leu Missense 17/20 - 1
17-42330655-CCC-TGT c.2140_2142delinsACA p.Gly714Thr Missense 17/20 - 1
17-42330657-C-G c.2140G>C p.Gly714Arg Missense 17/20 - 2
17-42330657-C-T c.2140G>A p.Gly714Arg Missense 17/20 - 2
17-42330659-C-A c.2138G>T p.Gly713Val Missense 17/20 - 1
17-42330677-A-G c.2120T>C p.Leu707Pro Missense 17/20 - 3
17-42330682-GTC-AAG c.2113_2115delinsCTT p.Asp705Leu Missense 17/20 - 1
17-42330683-TC-TG c.2113delinsC p.Asp705His Missense 17/20 - 1
17-42330684-C-A c.2113G>T p.Asp705Tyr Missense 17/20 - 14
17-42330692-A-C c.2105T>G p.Phe702Cys Missense 17/20 - 1
17-42330694-GCC-AAG c.2101_2103delinsCTT p.Gly701Leu Missense 17/20 - 1
17-42330695-C-T c.2102G>A p.Gly701Asp Missense 17/20 - 40
17-42330696-C-A c.2101G>T p.Gly701Cys Missense 17/20 - 1
17-42330698-G-C c.2099C>G p.Ser700Cys Missense 17/20 - 1
17-42330702-C-A c.2095G>T p.Gly699Cys Missense 17/20 - 1
17-42330703-CTT-GAC c.2092_2094delinsGTC p.Lys698Val Missense 17/20 - 1
17-42330703-CTT-TGT c.2093_2094delinsCA p.Lys698Thr Missense 17/20 - 1
17-42330704-TT-GG c.2092_2093delinsCC p.Lys698Pro Missense 17/20 - 1
17-42330713-TT-CT c.2084delinsG p.Lys695Arg Missense 17/20 - 1
17-42330715-GC-AA c.2081_2082delinsTT p.Arg694Leu Missense 17/20 - 1
17-42330716-CG-GA c.2080_2081delinsTC p.Arg694Ser Missense 17/20 - 1
17-42330717-G-C c.2080C>G p.Arg694Gly Missense 17/20 - 1
17-42330720-C-G c.2077G>C p.Glu693Gln Missense 17/20 - 1
17-42330722-G-A c.2075C>T p.Pro692Leu Missense 17/20 - 1
17-42330726-T-G c.2071A>C p.Lys691Gln Missense 17/20 - 1
17-42330729-T-A c.2068A>T p.Ser690Cys Missense 17/20 - 1
17-42330729-T-C c.2068A>G p.Ser690Gly Missense 17/20 - 1
17-42330734-AT-TG c.2062_2063delinsCA p.Ile688His Missense 17/20 - 1
17-42330735-T-C c.2062A>G p.Ile688Val Missense 17/20 - 1
17-42330737-A-G c.2060T>C p.Leu687Pro Missense 17/20 - 12
17-42330741-T-C c.2058-2A>G - IntronicSNV - 16/19 1
17-42330744-G-A c.2058-5C>T - IntronicSNV - 16/19 1
17-42330744-G-T c.2058-5C>A - IntronicSNV - 16/19 1
17-42331863-C-T c.2057+1G>A - IntronicSNV - 16/19 2
17-42331864-G-A c.2057C>T p.Thr686Met Missense 16/20 - 1
17-42331870-A-C c.2051T>G p.Ile684Ser Missense 16/20 - 1
17-42331870-AT-TG c.2050_2051delinsCA p.Ile684His Missense 16/20 - 3
17-42331872-CTG-TGT c.2047_2049delinsACA p.Gln683Thr Missense 16/20 - 1
17-42331876-G-C c.2045C>G p.Ser682Cys Missense 16/20 - 1
17-42331877-A-G c.2044T>C p.Ser682Pro Missense 16/20 - 1
17-42331878-C-A c.2043G>T p.Glu681Asp Missense 16/20 - 2
17-42331878-C-G c.2043G>C p.Glu681Asp Missense 16/20 - 2
17-42331878-CTC-TGT c.2041_2043delinsACA p.Glu681Thr Missense 16/20 - 3
17-42331880-C-G c.2041G>C p.Glu681Gln Missense 16/20 - 7
17-42331881-CAG-TGT c.2038_2040delinsACA p.Leu680Thr Missense 16/20 - 2
17-42331885-A-C c.2036T>G p.Phe679Cys Missense 16/20 - 1
17-42331887-TAT-TGT c.2033delinsC p.Ile678Thr Missense 16/20 - 1
17-42331891-AG-TG c.2030delinsA p.Leu677His Missense 16/20 - 2
17-42331894-AT-TG c.2026_2027delinsCA p.Ile676His Missense 16/20 - 1
17-42331900-AC-TG c.2020_2021delinsCA p.Val674His Missense 16/20 - 1
17-42331902-CAG-TGT c.2017_2019delinsACA p.Leu673Thr Missense 16/20 - 2
17-42331905-CAG-TGT c.2014_2016delinsACA p.Leu672Thr Missense 16/20 - 1
17-42331909-GC-TG c.2011_2012delinsCA p.Ala671His Missense 16/20 - 2
17-42331914-CAG-TGT c.2005_2007delinsACA p.Leu669Thr Missense 16/20 - 2
17-42331921-G-A c.2000C>T p.Ser667Phe Missense 16/20 - 6
17-42331921-G-C c.2000C>G p.Ser667Cys Missense 16/20 - 2
17-42331922-A-G c.1999T>C p.Ser667Pro Missense 16/20 - 2
17-42331924-GC-TG c.1996_1997delinsCA p.Ala666His Missense 16/20 - 2
17-42331927-A-C c.1994T>G p.Phe665Cys Missense 16/20 - 1
17-42331932-CAT-TGT c.1988_1989delinsCA p.Met663Thr Missense 16/20 - 1
17-42331935-C-A c.1986G>T p.Trp662Cys Missense 16/20 - 1
17-42331935-C-G c.1986G>C p.Trp662Cys Missense 16/20 - 1
17-42331939-AT-TG c.1981_1982delinsCA p.Ile661His Missense 16/20 - 1
17-42331942-G-A c.1979C>T p.Pro660Leu Missense 16/20 - 1
17-42331942-GG-TG c.1979delinsA p.Pro660His Missense 16/20 - 1
17-42331945-A-C c.1976T>G p.Phe659Cys Missense 16/20 - 2
17-42331947-CTC-TGT c.1972_1974delinsACA p.Glu658Thr Missense 16/20 - 1
17-42331949-C-G c.1972G>C p.Glu658Gln Missense 16/20 - 1
17-42331949-C-T c.1972G>A p.Glu658Lys Missense 16/20 - 7
17-42331951-G-T c.1970C>A p.Ser657Tyr Missense 16/20 - 1
17-42331954-C-T c.1967G>A p.Arg656His Missense 16/20 - 1
17-42331955-G-A c.1966C>T p.Arg656Cys Missense 16/20 - 2
17-42331956-CA-GT c.1964_1965delinsAC p.Leu655Tyr Missense 16/20 - 2
17-42331961-C-A c.1960G>T p.Gly654Cys Missense 16/20 - 2
17-42331962-CAG-TGT c.1957_1959delinsACA p.Leu653Thr Missense 16/20 - 1
17-42331965-TGG-TGT c.1954delinsA p.Pro652Thr Missense 16/20 - 3
17-42331972-AT-TG c.1948_1949delinsCA p.Ile650His Missense 16/20 - 2
17-42331975-AC-TG c.1945_1946delinsCA p.Val649His Missense 16/20 - 1
17-42331977-C-A c.1944G>T p.Trp648Cys Missense 16/20 - 2
17-42331977-C-G c.1944G>C p.Trp648Cys Missense 16/20 - 2
17-42331987-GC-CG c.1933_1934delinsCG p.Ala645Arg Missense 16/20 - 1
17-42331993-G-C c.1928C>G p.Ser643Cys Missense 16/20 - 2
17-42331997-T-C c.1924A>G p.Asn642Asp Missense 16/20 - 6
17-42331999-G-A c.1922C>T p.Ser641Phe Missense 16/20 - 1
17-42332023-G-A c.1898C>T p.Ser633Leu Missense 16/20 - 1
17-42332575-C-T c.1890G>A p.Gln630Gln Synonymous 15/20 - 1
17-42332627-G-A c.1838C>T p.Ser613Phe Missense 15/20 - 25
17-42332638-CC-AC c.1827delinsT p.Gly609Gly Missense 15/20 - 1
17-42332639-C-G c.1826G>C p.Gly609Ala Missense 15/20 - 1
17-42332640-C-T c.1825G>A p.Gly609Arg Missense 15/20 - 19
17-42332660-C-T c.1805G>A p.Arg602His Missense 15/20 - 6
17-42332803-C-T c.1801-139G>A - IntronicSNV - 14/19 1
17-42333057-G-C c.1784C>G p.Ser595Cys Missense 14/20 - 1
17-42333071-C-T c.1770G>A p.Lys590Lys Synonymous 14/20 - 1
17-42333074-GC-AA c.1766_1767delinsTT p.Arg589Leu Missense 14/20 - 1
17-42333075-C-T c.1766G>A p.Arg589His Missense 14/20 - 51
17-42333076-G-A c.1765C>T p.Arg589Cys Missense 14/20 - 19
17-42333076-G-T c.1765C>A p.Arg589Ser Missense 14/20 - 10
17-42333085-T-A c.1756A>T p.Met586Leu Missense 14/20 - 1
17-42333099-G-T c.1742C>A p.Thr581Asn Missense 14/20 - 1
17-42333099-GT-GA c.1741delinsT p.Thr581Ser Missense 14/20 - 1
17-42333105-GC-CT c.1735_1736delinsAG p.Ala579Ser Missense 14/20 - 1
17-42333120-G-C c.1721C>G p.Ser574Cys Missense 14/20 - 1
17-42333147-C-G c.1694G>C p.Gly565Ala Missense 14/20 - 1
17-42333173-G-C c.1668C>G p.Asn556Lys Missense 14/20 - 1
17-42333177-T-C c.1664A>G p.Tyr555Cys Missense 14/20 - 1
17-42333178-A-T c.1663T>A p.Tyr555Asn Missense 14/20 - 1
17-42333193-G-A c.1648C>T p.Gln550* Nonsense 14/20 - 1
17-42333212-G-A c.1629C>T p.Ile543Ile Synonymous 14/20 - 1
17-42334718-C-T c.1626G>A p.Lys542Lys Synonymous 13/20 - 1
17-42334718-CTT-TGT c.1625_1626delinsCA p.Lys542Thr Missense 13/20 - 1
17-42334722-AT-TG c.1621_1622delinsCA p.Ile541His Missense 13/20 - 1
17-42334724-CAG-TGT c.1618_1620delinsACA p.Leu540Thr Missense 13/20 - 1
17-42334727-CTT-TGT c.1616_1617delinsCA p.Lys539Thr Missense 13/20 - 1
17-42334728-TT-GC c.1615_1616delinsGC p.Lys539Ala Missense 13/20 - 1
17-42334734-A-C c.1610T>G p.Phe537Cys Missense 13/20 - 1
17-42334739-CTC-TGT c.1603_1605delinsACA p.Glu535Thr Missense 13/20 - 2
17-42334743-T-C c.1601A>G p.Tyr534Cys Missense 13/20 - 1
17-42334746-AT-TG c.1597_1598delinsCA p.Ile533His Missense 13/20 - 1
17-42334749-A-C c.1595T>G p.Phe532Cys Missense 13/20 - 1
17-42334755-AG-TG c.1589delinsA p.Leu530His Missense 13/20 - 1
17-42334758-G-C c.1586C>G p.Ser529Cys Missense 13/20 - 1
17-42334761-AT-TG c.1582_1583delinsCA p.Ile528His Missense 13/20 - 1
17-42334767-A-C c.1577T>G p.Phe526Cys Missense 13/20 - 1
17-42334770-G-A c.1574C>T p.Ser525Phe Missense 13/20 - 1
17-42334770-G-C c.1574C>G p.Ser525Cys Missense 13/20 - 1
17-42334774-AAGA-A c.1571_1573del p.Phe524del InFrameDeletion 13/20 - 1
17-42334780-C-T c.1564G>A p.Glu522Lys Missense 13/20 - 3
17-42334792-G-A c.1552C>T p.Arg518Cys Missense 13/20 - 1
17-42334803-C-G c.1541G>C p.Arg514Pro Missense 13/20 - 1
17-42334815-C-T c.1529G>A p.Ser510Asn Missense 13/20 - 1
17-42334822-C-T c.1522G>A p.Glu508Lys Missense 13/20 - 2
17-42334864-C-A c.1480G>T p.Gly494Cys Missense 13/20 - 1
17-42334864-C-T c.1480G>A p.Gly494Ser Missense 13/20 - 2
17-42334875-C-T c.1469G>A p.Arg490His Missense 13/20 - 3
17-42334876-G-A c.1468C>T p.Arg490Cys Missense 13/20 - 3
17-42334879-C-T c.1465G>A p.Gly489Ser Missense 13/20 - 1
17-42334882-C-T c.1462G>A p.Val488Met Missense 13/20 - 12
17-42334884-A-T c.1460T>A p.Ile487Asn Missense 13/20 - 1
17-42334886-G-C c.1458C>G p.Tyr486* Nonsense 13/20 - 1
17-42334893-AG-TC c.1450_1451delinsGA p.Leu484Glu Missense 13/20 - 1
17-42334902-G-C c.1442C>G p.Thr481Ser Missense 13/20 - 1
17-42334903-T-A c.1441A>T p.Thr481Ser Missense 13/20 - 1
17-42334905-T-C c.1439A>G p.Glu480Gly Missense 13/20 - 1
17-42334905-TC-AC c.1439delinsT p.Glu480Val Missense 13/20 - 1
17-42334907-G-C c.1437C>G p.Cys479Trp Missense 13/20 - 11
17-42334908-CA-AA c.1436delinsT p.Cys479Phe Missense 13/20 - 1
17-42334908-C-G c.1436G>C p.Cys479Ser Missense 13/20 - 1
17-42334909-A-T c.1435T>A p.Cys479Ser Missense 13/20 - 1
17-42334911-A-G c.1433T>C p.Phe478Ser Missense 13/20 - 1
17-42335027-CGA-AAC c.1429_1431delinsGTT p.Ser477Val Missense 12/20 - 1
17-42335028-G-T c.1430C>A p.Ser477* Nonsense 12/20 - 3
17-42335031-A-G c.1427T>C p.Phe476Ser Missense 12/20 - 1
17-42335034-A-C c.1424T>G p.Phe475Cys Missense 12/20 - 1
17-42335034-A-G c.1424T>C p.Phe475Ser Missense 12/20 - 1
17-42335037-GC-AA c.1420_1421delinsTT p.Ala474Phe Missense 12/20 - 1
17-42335037-G-T c.1421C>A p.Ala474Asp Missense 12/20 - 1
17-42335038-C-T c.1420G>A p.Ala474Thr Missense 12/20 - 1
17-42335039-TTC-AAC c.1418_1419delinsTT p.Glu473Val Missense 12/20 - 1
17-42335039-TTC-TGT c.1417_1418delinsAC p.Glu473Thr Missense 12/20 - 1
17-42335040-T-C c.1418A>G p.Glu473Gly Missense 12/20 - 1
17-42335040-TC-AC c.1418delinsT p.Glu473Val Missense 12/20 - 1
17-42335041-C-G c.1417G>C p.Glu473Gln Missense 12/20 - 1
17-42335042-CTC-AAC c.1415_1416delinsTT p.Glu472Val Missense 12/20 - 1
17-42335042-CTC-TGT c.1414_1416delinsACA p.Glu472Thr Missense 12/20 - 1
17-42335043-T-C c.1415A>G p.Glu472Gly Missense 12/20 - 2
17-42335043-TC-AC c.1415delinsT p.Glu472Val Missense 12/20 - 1
17-42335046-A-C c.1412T>G p.Phe471Cys Missense 12/20 - 1
17-42335046-A-G c.1412T>C p.Phe471Ser Missense 12/20 - 1
17-42335048-CAC-AAC c.1410delinsT p.Val470Val Missense 12/20 - 1
17-42335051-CAG-AAC c.1405_1407delinsGTT p.Leu469Val Missense 12/20 - 1
17-42335052-AG-AC c.1405delinsG p.Leu469Val Missense 12/20 - 1
17-42335054-CAG-AAC c.1402_1404delinsGTT p.Leu468Val Missense 12/20 - 1
17-42335054-CAG-TGT c.1402_1404delinsACA p.Leu468Thr Missense 12/20 - 1
17-42335055-AG-AC c.1402delinsG p.Leu468Val Missense 12/20 - 1
17-42335058-GG-AA c.1399_1400delinsTT p.Pro467Phe Missense 12/20 - 1
17-42335059-G-A c.1399C>T p.Pro467Ser Missense 12/20 - 1
17-42335059-G-C c.1399C>G p.Pro467Ala Missense 12/20 - 1
17-42335060-TCC-AAC c.1397_1398delinsTT p.Gly466Val Missense 12/20 - 1
17-42335060-TCC-AGC c.1397_1398delinsCT p.Gly466Ala Missense 12/20 - 1
17-42335063-TGA-AAC c.1393_1395delinsGTT p.Ser465Val Missense 12/20 - 1
17-42335063-TG-GT c.1394_1395delinsAC p.Ser465Tyr Missense 12/20 - 1
17-42335064-GA-AT c.1393_1394delinsAT p.Ser465Ile Missense 12/20 - 1
17-42335065-A-C c.1393T>G p.Ser465Ala Missense 12/20 - 1
17-42335067-A-C c.1391T>G p.Phe464Cys Missense 12/20 - 1
17-42335067-A-G c.1391T>C p.Phe464Ser Missense 12/20 - 1
17-42335070-CC-AA c.1387_1388delinsTT p.Gly463Phe Missense 12/20 - 1
17-42335070-C-T c.1388G>A p.Gly463Asp Missense 12/20 - 1
17-42335071-C-T c.1387G>A p.Gly463Ser Missense 12/20 - 1
17-42335082-AG-GC c.1375_1376delinsGC p.Leu459Ala Missense 12/20 - 1
17-42335082-AG-TC c.1375_1376delinsGA p.Leu459Glu Missense 12/20 - 1
17-42335083-G-A c.1375C>T p.Leu459Leu Synonymous 12/20 - 1
17-42335086-G-A c.1372C>T p.Pro458Ser Missense 12/20 - 1
17-42335086-G-C c.1372C>G p.Pro458Ala Missense 12/20 - 1
17-42335087-CTG-AAC c.1369_1371delinsGTT p.Gln457Val Missense 12/20 - 1
17-42335088-TG-TC c.1369delinsG p.Gln457Glu Missense 12/20 - 1
17-42335091-GC-AA c.1366_1367delinsTT p.Ala456Phe Missense 12/20 - 1
17-42335092-C-A c.1366G>T p.Ala456Ser Missense 12/20 - 1
17-42335093-CCC-AAC c.1364_1365delinsTT p.Gly455Val Missense 12/20 - 1
17-42335093-CCC-AGC c.1364_1365delinsCT p.Gly455Ala Missense 12/20 - 1
17-42335096-CAG-AAC c.1360_1362delinsGTT p.Leu454Val Missense 12/20 - 1
17-42335096-CC-C c.1366del p.Ala456Leufs*29 Frameshift 12/20 - 1
17-42335099-CAG-AAC c.1357_1359delinsGTT p.Leu453Val Missense 12/20 - 1
17-42335112-A-G c.1346T>C p.Ile449Thr Missense 12/20 - 1
17-42335116-C-A c.1342G>T p.Gly448Cys Missense 12/20 - 1
17-42335116-C-T c.1342G>A p.Gly448Ser Missense 12/20 - 1
17-42335120-CAC-AAC c.1338delinsT p.Val446Val Missense 12/20 - 1
17-42335125-C-T c.1333G>A p.Ala445Thr Missense 12/20 - 1
17-42335127-G-T c.1331C>A p.Thr444Asn Missense 12/20 - 1
17-42335130-GA-AA c.1328delinsT p.Ser443Phe Missense 12/20 - 1
17-42335133-A-T c.1325T>A p.Ile442Asn Missense 12/20 - 1
17-42335134-T-A c.1324A>T p.Ile442Phe Missense 12/20 - 1
17-42335135-CAG-AAC c.1321_1323delinsGTT p.Leu441Val Missense 12/20 - 1
17-42335136-A-C c.1322T>G p.Leu441Arg Missense 12/20 - 1
17-42335139-AG-TC c.1318_1319delinsGA p.Leu440Glu Missense 12/20 - 1
17-42335142-T-C c.1316A>G p.Glu439Gly Missense 12/20 - 1
17-42335142-TC-AC c.1316delinsT p.Glu439Val Missense 12/20 - 1
17-42335144-C-A c.1314G>T p.Ser438Ser Synonymous 12/20 - 1
17-42335144-C-G c.1314G>C p.Ser438Ser Synonymous 12/20 - 1
17-42335144-CGA-AAC c.1312_1314delinsGTT p.Ser438Val Missense 12/20 - 1
17-42335144-C-T c.1314G>A p.Ser438Ser Synonymous 12/20 - 3
17-42335147-CAC-AAC c.1311delinsT p.Val437Val Missense 12/20 - 1
17-42335147-CAC-TGT c.1309_1311delinsACA p.Val437Thr Missense 12/20 - 1
17-42335150-TCC-AAC c.1307_1308delinsTT p.Gly436Val Missense 12/20 - 1
17-42335150-TCC-AGC c.1307_1308delinsCT p.Gly436Ala Missense 12/20 - 1
17-42335153-CA-AC c.1304_1305delinsGT p.Met435Ser Missense 12/20 - 1
17-42335153-CA-GC c.1304_1305delinsGC p.Met435Ser Missense 12/20 - 1
17-42335156-CTG-AAC c.1300_1302delinsGTT p.Gln434Val Missense 12/20 - 1
17-42335157-TG-TC c.1300delinsG p.Gln434Glu Missense 12/20 - 1
17-42335160-T-C c.1298A>G p.Asn433Ser Missense 12/20 - 1
17-42335162-CCG-AAC c.1294_1296delinsGTT p.Arg432Val Missense 12/20 - 1
17-42335164-G-A c.1294C>T p.Arg432Trp Missense 12/20 - 1
17-42335166-G-T c.1292C>A p.Thr431Asn Missense 12/20 - 1
17-42335174-T-C c.1284A>G p.Gly428Gly Synonymous 12/20 - 1
17-42335353-C-T c.1282+1G>A - IntronicSNV - 11/19 1
17-42335359-AG-TG c.1277delinsA p.Leu426His Missense 11/20 - 1
17-42335365-CC-AC c.1271delinsT p.Gly424Val Missense 11/20 - 1
17-42335371-GT-TG c.1264_1265delinsCA p.Thr422His Missense 11/20 - 1
17-42335386-A-G c.1250T>C p.Leu417Pro Missense 11/20 - 1
17-42335397-G-A c.1239C>T p.Tyr413Tyr Synonymous 11/20 - 1
17-42335412-CGGCAGCCAGGACCTGGGGGCTGAATGC-C c.1199_1225del p.Ala400_Ala408del InFrameDeletion 11/20 - 5
17-42335412-CGGC-C c.1223_1225del p.Ala408del InFrameDeletion 11/20 - 2
17-42335441-C-A c.1195G>T p.Asp399Tyr Missense 11/20 - 1
17-42335454-C-T c.1182G>A p.Leu394Leu Synonymous 11/20 - 1
17-42335457-G-T c.1179C>A p.Tyr393* Nonsense 11/20 - 1
17-42335474-G-A c.1162C>T p.Arg388Cys Missense 11/20 - 2
17-42335480-T-TG c.1155_1156insC p.Ile386Hisfs*11 Frameshift 11/20 - 1
17-42335517-C-T c.1119G>A p.Gln373Gln Synonymous 11/20 - 1
17-42335529-A-T c.1107T>A p.Asp369Glu Missense 11/20 - 1
17-42335685-G-A c.1087+96C>T - IntronicSNV - 10/19 1
17-42335792-TA-GC c.1075_1076delinsGC p.Tyr359Ala Missense 10/20 - 2
17-42335801-G-T c.1067C>A p.Ser356Tyr Missense 10/20 - 2
17-42335838-G-A c.1030C>T p.Arg344* Nonsense 10/20 - 2
17-42335888-G-A c.980C>T p.Pro327Leu Missense 10/20 - 2
17-42335888-G-C c.980C>G p.Pro327Arg Missense 10/20 - 5
17-42335888-G-T c.980C>A p.Pro327His Missense 10/20 - 2
17-42335891-GC-CT c.976_977delinsAG p.Ala326Ser Missense 10/20 - 1
17-42335937-G-T c.931C>A p.Leu311Ile Missense 10/20 - 1
17-42335957-C-T c.911G>A p.Arg304Gln Missense 10/20 - 1
17-42336000-A-T c.877-9T>A - IntronicSNV - 9/19 1
17-42336149-C-T c.877-158G>A - IntronicSNV - 9/19 4
17-42336424-G-A c.876+107C>T - IntronicSNV - 9/19 2
17-42336532-C-A c.875G>T p.Arg292Met Missense 9/20 - 1
17-42336558-CCG-AGC c.847_849delinsGCT p.Arg283Ala Missense 9/20 - 2
17-42336559-CC-C c.850del p.Ala284Leufs*13 Frameshift 9/20 - 1
17-42336559-CG-GA c.847_848delinsTC p.Arg283Ser Missense 9/20 - 1
17-42336559-CG-GC c.847_848delinsGC p.Arg283Ala Missense 9/20 - 1
17-42336589-GC-CT c.817_818delinsAG p.Ala273Ser Missense 9/20 - 1
17-42336591-C-G c.816G>C p.Glu272Asp Missense 9/20 - 1
17-42336599-C-A c.808G>T p.Gly270* Nonsense 9/20 - 1
17-42336620-G-T c.787C>A p.Arg263Ser Missense 9/20 - 1
17-42336649-A-G c.758T>C p.Leu253Pro Missense 9/20 - 1
17-42336674-C-G c.733G>C p.Val245Leu Missense 9/20 - 1
17-42336674-C-T c.733G>A p.Val245Met Missense 9/20 - 3
17-42336704-C-A c.703G>T p.Asp235Tyr Missense 9/20 - 1
17-42336943-CC-C c.620del p.Gly207Alafs*24 Frameshift 8/20 - 2
17-42337054-CC-CCCC c.610-102_610-101dup - IntronicInsertion - 7/19 2
17-42337055-C-CC c.610-101dup - IntronicInsertion - 7/19 2
17-42337091-C-T c.609+86G>A - IntronicSNV - 7/19 3
17-42337184-ACA-A c.603_604del p.Cys201* Frameshift 7/20 - 1
17-42337209-GAG-G c.577_578del p.Ser193Leufs*9 Frameshift 7/20 - 1
17-42337247-C-T c.539G>A p.Arg180His Missense 7/20 - 2
17-42337275-C-T c.511G>A p.Gly171Arg Missense 7/20 - 1
17-42337276-CC-C c.515del p.Gly172Valfs*2 Frameshift 7/20 - 1
17-42337280-GC-CG c.505_506delinsCG p.Ala169Arg Missense 7/20 - 1
17-42337302-T-C c.486-2A>G - IntronicSNV - 6/19 1
17-42337803-C-G c.454G>C p.Glu152Gln Missense 6/20 - 1
17-42337849-T-G c.408A>C p.Leu136Leu Synonymous 6/20 - 1
17-42337869-C-T c.388G>A p.Gly130Arg Missense 6/20 - 4
17-42337900-G-A c.357C>T p.Val119Val Synonymous 6/20 - 1
17-42337900-G-C c.357C>G p.Val119Val Synonymous 6/20 - 1
17-42337900-G-T c.357C>A p.Val119Val Synonymous 6/20 - 1
17-42337976-G-A c.349+27C>T - IntronicSNV - 5/19 1
17-42338012-A-G c.340T>C p.Phe114Leu Missense 5/20 - 1
17-42338016-T-A c.336A>T p.Arg112Ser Missense 5/20 - 1
17-42338027-C-T c.325G>A p.Glu109Lys Missense 5/20 - 1
17-42338032-A-G c.320T>C p.Leu107Pro Missense 5/20 - 1
17-42338054-A-G c.298T>C p.Ser100Pro Missense 5/20 - 1
17-42338066-G-A c.286C>T p.Arg96Cys Missense 5/20 - 1
17-42338084-C-T c.268G>A p.Glu90Lys Missense 5/20 - 4
17-42338096-C-CTGAA c.255_256insTTCA p.Glu86Phefs*28 Frameshift 5/20 - 1
17-42338098-TC-AG c.253_254delinsCT p.Glu85Leu Missense 5/20 - 1
17-42338098-T-G c.254A>C p.Glu85Ala Missense 5/20 - 1
17-42338106-CAC-ATC c.245_246delinsAT p.Val82Asp Missense 5/20 - 1
17-42338106-CAC-TTT c.244_246delinsAAA p.Val82Lys Missense 5/20 - 1
17-42338107-A-G c.245T>C p.Val82Ala Missense 5/20 - 1
17-42338109-CC-TT c.242_243delinsAA p.Trp81* Missense 5/20 - 1
17-42338124-C-A c.228G>T p.Met76Ile Missense 5/20 - 1
17-42338136-C-A c.216G>T p.Glu72Asp Missense 5/20 - 2
17-42338150-C-A c.202G>T p.Glu68* Nonsense 5/20 - 1
17-42338150-C-T c.202G>A p.Glu68Lys Missense 5/20 - 1
17-42338248-A-G c.169-65T>C - IntronicSNV - 4/19 1
17-42338352-T-C c.169-169A>G - IntronicSNV - 4/19 4
17-42338453-G-A c.169-270C>T - IntronicSNV - 4/19 1
17-42338482-G-A c.169-299C>T - IntronicSNV - 4/19 1
17-42338942-C-A c.168+1G>T - IntronicSNV - 4/19 1
17-42338945-T-C c.166A>G p.Lys56Glu Missense 4/20 - 24
17-42338945-T-G c.166A>C p.Lys56Gln Missense 4/20 - 1
17-42338956-G-C c.155C>G p.Pro52Arg Missense 4/20 - 1
17-42338957-G-A c.154C>T p.Pro52Ser Missense 4/20 - 1
17-42338966-T-C c.145A>G p.Thr49Ala Missense 4/20 - 1
17-42338993-C-T c.118G>A p.Glu40Lys Missense 4/20 - 8
17-42338998-T-A c.113A>T p.Asp38Val Missense 4/20 - 4
17-42338998-T-G c.113A>C p.Asp38Ala Missense 4/20 - 10
17-42339221-C-T c.107-217G>A - IntronicSNV - 3/19 2
17-42339303-G-A c.107-299C>T - IntronicSNV - 3/19 2
17-42339303-G-C c.107-299C>G - IntronicSNV - 3/19 2
17-42339303-G-T c.107-299C>A - IntronicSNV - 3/19 2
17-42339424-C-G c.107-420G>C - IntronicSNV - 3/19 5
17-42339424-C-T c.107-420G>A - IntronicSNV - 3/19 5
17-42339745-C-A c.106+259G>T - IntronicSNV - 3/19 3
17-42339745-C-T c.106+259G>A - IntronicSNV - 3/19 3
17-42339762-G-A c.106+242C>T - IntronicSNV - 3/19 4
17-42339981-C-A c.106+23G>T - IntronicSNV - 3/19 1
17-42340015-T-G c.95A>C p.Glu32Ala Missense 3/20 - 1
17-42340018-A-G c.92T>C p.Met31Thr Missense 3/20 - 3
17-42340025-A-G c.85T>C p.Ser29Pro Missense 3/20 - 2
17-42340073-C-A c.37G>T p.Glu13* Nonsense 3/20 - 2
17-42340073-C-T c.37G>A p.Glu13Lys Missense 3/20 - 1
17-42340221-T-A c.14A>T p.Gln5Leu Missense 2/20 - 1
17-42340229-C-T c.6G>A p.Glu2Glu Synonymous 2/20 - 1
17-42340233-A-C c.2T>G p.Met1? Missense 2/20 - 1
17-42340233-A-G c.2T>C p.Met1? Missense 2/20 - 1
17-42340353-C-T c.-68-51G>A - IntronicSNV - 1/19 1