APP amyloid beta precursor protein

Canonical transcript: NM_000484

564 unique variant annotations were identified in 1165 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
21-27253014-C-A c.*967G>T - 3-UTRSNV 18/18 - 1
21-27253014-C-T c.*967G>A - 3-UTRSNV 18/18 - 1
21-27253044-C-T c.*937G>A - 3-UTRSNV 18/18 - 1
21-27253067-C-T c.*914G>A - 3-UTRSNV 18/18 - 1
21-27253148-T-C c.*833A>G - 3-UTRSNV 18/18 - 1
21-27253148-T-G c.*833A>C - 3-UTRSNV 18/18 - 1
21-27253609-T-C c.*372A>G - 3-UTRSNV 18/18 - 1
21-27253963-G-A c.*18C>T - 3-UTRSNV 18/18 - 1
21-27254006-T-C c.2288A>G p.Lys763Arg Missense 18/18 - 1
21-27254024-TA-GC c.2269_2270delinsGC p.Tyr757Ala Missense 18/18 - 1
21-27254042-T-C c.2252A>G p.Lys751Arg Missense 18/18 - 1
21-27254045-G-C c.2249C>G p.Ser750Cys Missense 18/18 - 1
21-27254073-C-A c.2221G>T p.Ala741Ser Missense 18/18 - 2
21-27254092-CAA-C c.2212-11_2212-10del - IntronicDeletion - 17/17 1
21-27254279-C-G c.2212-197G>C - IntronicSNV - 17/17 2
21-27255117-A-C c.2212-1035T>G - IntronicSNV - 17/17 1
21-27255117-A-G c.2212-1035T>C - IntronicSNV - 17/17 1
21-27257660-C-A c.2212-3578G>T - IntronicSNV - 17/17 1
21-27257660-C-G c.2212-3578G>C - IntronicSNV - 17/17 1
21-27260014-C-T c.2211+4020G>A - IntronicSNV - 17/17 1
21-27260456-A-G c.2211+3578T>C - IntronicSNV - 17/17 1
21-27260456-A-T c.2211+3578T>A - IntronicSNV - 17/17 1
21-27264047-T-G c.2198A>C p.His733Pro Missense 17/18 - 2
21-27264056-G-C c.2189C>G p.Ser730Cys Missense 17/18 - 2
21-27264068-T-C c.2177A>G p.Lys726Arg Missense 17/18 - 1
21-27264071-T-C c.2174A>G p.Lys725Arg Missense 17/18 - 1
21-27264073-C-G c.2172G>C p.Lys724Asn Missense 17/18 - 17
21-27264074-T-A c.2171A>T p.Lys724Met Missense 17/18 - 2
21-27264074-T-C c.2171A>G p.Lys724Arg Missense 17/18 - 1
21-27264076-CAG-TGT c.2167_2169delinsACA p.Leu723Thr Missense 17/18 - 1
21-27264077-A-C c.2168T>G p.Leu723Arg Missense 17/18 - 2
21-27264077-A-G c.2168T>C p.Leu723Pro Missense 17/18 - 19
21-27264080-A-T c.2165T>A p.Met722Lys Missense 17/18 - 3
21-27264083-AC-AA c.2161delinsT p.Val721Leu Missense 17/18 - 2
21-27264086-AA-CC c.2158_2159delinsGG p.Leu720Gly Missense 17/18 - 2
21-27264086-A-G c.2159T>C p.Leu720Ser Missense 17/18 - 5
21-27264089-G-T c.2156C>A p.Thr719Asn Missense 17/18 - 4
21-27264090-T-G c.2155A>C p.Thr719Pro Missense 17/18 - 6
21-27264093-T-G c.2152A>C p.Ile718Leu Missense 17/18 - 5
21-27264094-G-A c.2151C>T p.Val717Val Synonymous 17/18 - 1
21-27264094-GAC-TGG c.2149_2151delinsCCA p.Val717Pro Missense 17/18 - 1
21-27264094-G-C c.2151C>G p.Val717Val Synonymous 17/18 - 1
21-27264094-G-T c.2151C>A p.Val717Val Synonymous 17/18 - 1
21-27264095-A-C c.2150T>G p.Val717Gly Missense 17/18 - 30
21-27264095-AC-CG c.2149_2150delinsCG p.Val717Arg Missense 17/18 - 1
21-27264095-A-G c.2150T>C p.Val717Ala Missense 17/18 - 2
21-27264096-C-A c.2149G>T p.Val717Phe Missense 17/18 - 651
21-27264096-C-G c.2149G>C p.Val717Leu Missense 17/18 - 57
21-27264096-C-T c.2149G>A p.Val717Ile Missense 17/18 - 603
21-27264097-G-C c.2148C>G p.Ile716Met Missense 17/18 - 3
21-27264098-A-G c.2147T>C p.Ile716Thr Missense 17/18 - 13
21-27264099-T-A c.2146A>T p.Ile716Phe Missense 17/18 - 38
21-27264099-T-C c.2146A>G p.Ile716Val Missense 17/18 - 258
21-27264100-CAC-ATC c.2144_2145delinsAT p.Val715Asp Missense 17/18 - 1
21-27264100-CAC-TTT c.2143_2145delinsAAA p.Val715Lys Missense 17/18 - 5
21-27264101-A-G c.2144T>C p.Val715Ala Missense 17/18 - 13
21-27264102-C-T c.2143G>A p.Val715Met Missense 17/18 - 24
21-27264104-G-A c.2141C>T p.Thr714Ile Missense 17/18 - 40
21-27264104-GT-CT c.2141delinsG p.Thr714Arg Missense 17/18 - 1
21-27264105-T-C c.2140A>G p.Thr714Ala Missense 17/18 - 13
21-27264106-CGC-TTT c.2137_2139delinsAAA p.Ala713Lys Missense 17/18 - 1
21-27264107-G-A c.2138C>T p.Ala713Val Missense 17/18 - 2
21-27264108-C-T c.2137G>A p.Ala713Thr Missense 17/18 - 28
21-27264114-C-A c.2131G>T p.Val711Phe Missense 17/18 - 1
21-27264116-A-C c.2129T>G p.Val710Gly Missense 17/18 - 5
21-27264119-CC-TT c.2125_2126delinsAA p.Gly709Asn Missense 17/18 - 1
21-27264120-C-A c.2125G>T p.Gly709Cys Missense 17/18 - 1
21-27264120-C-T c.2125G>A p.Gly709Ser Missense 17/18 - 3
21-27264121-G-A c.2124C>T p.Gly708Gly Synonymous 17/18 - 4
21-27264122-CC-CT c.2122delinsA p.Gly708Ser Missense 17/18 - 1
21-27264123-C-A c.2122G>T p.Gly708Cys Missense 17/18 - 1
21-27264124-CAC-TTT c.2119_2121delinsAAA p.Val707Lys Missense 17/18 - 1
21-27264130-G-A c.2115C>T p.Leu705Leu Synonymous 17/18 - 1
21-27264131-AG-TG c.2114delinsA p.Leu705His Missense 17/18 - 1
21-27264132-G-C c.2113C>G p.Leu705Val Missense 17/18 - 8
21-27264133-TCC-TGT c.2110_2111delinsAC p.Gly704Thr Missense 17/18 - 1
21-27264134-CC-CT c.2110delinsA p.Gly704Arg Missense 17/18 - 2
21-27264137-AT-GC c.2107_2108delinsGC p.Ile703Ala Missense 17/18 - 1
21-27264137-AT-TG c.2107_2108delinsCA p.Ile703His Missense 17/18 - 1
21-27264138-T-A c.2107A>T p.Ile703Phe Missense 17/18 - 1
21-27264140-AT-TG c.2104_2105delinsCA p.Ile702His Missense 17/18 - 1
21-27264141-T-A c.2104A>T p.Ile702Phe Missense 17/18 - 1
21-27264142-TGC-TTT c.2101_2102delinsAA p.Ala701Lys Missense 17/18 - 1
21-27264145-ACC-TGG c.2098_2100delinsCCA p.Gly700Pro Missense 17/18 - 1
21-27264146-CC-CT c.2098delinsA p.Gly700Ser Missense 17/18 - 2
21-27264146-CC-TT c.2098_2099delinsAA p.Gly700Asn Missense 17/18 - 1
21-27264146-C-G c.2099G>C p.Gly700Ala Missense 17/18 - 3
21-27264147-C-A c.2098G>T p.Gly700Cys Missense 17/18 - 2
21-27264150-T-C c.2095A>G p.Lys699Glu Missense 17/18 - 1
21-27264150-T-TT c.2097dup p.Gly700Argfs*40 Frameshift 17/18 - 1
21-27264154-TG-GT c.2090_2091delinsAC p.Ser697Tyr Missense 17/18 - 1
21-27264160-CAC-TGT c.2083_2085delinsACA p.Val695Thr Missense 17/18 - 1
21-27264162-C-T c.2083G>A p.Val695Met Missense 17/18 - 1
21-27264165-C-T c.2080G>A p.Asp694Asn Missense 17/18 - 86
21-27264166-T-A c.2079A>T p.Glu693Asp Missense 17/18 - 8
21-27264166-T-G c.2079A>C p.Glu693Asp Missense 17/18 - 8
21-27264166-TTC-AAC c.2078_2079delinsTT p.Glu693Val Missense 17/18 - 1
21-27264166-TTC-TGT c.2077_2078delinsAC p.Glu693Thr Missense 17/18 - 1
21-27264167-T-A c.2078A>T p.Glu693Val Missense 17/18 - 1
21-27264167-T-C c.2078A>G p.Glu693Gly Missense 17/18 - 123
21-27264167-TC-CC c.2078delinsG p.Glu693Gly Missense 17/18 - 1
21-27264167-T-G c.2078A>C p.Glu693Ala Missense 17/18 - 1
21-27264167-TTCT-T c.2079_2081del p.Glu693del InFrameDeletion 17/18 - 12
21-27264168-C-G c.2077G>C p.Glu693Gln Missense 17/18 - 161
21-27264168-C-T c.2077G>A p.Glu693Lys Missense 17/18 - 33
21-27264170-G-C c.2075C>G p.Ala692Gly Missense 17/18 - 40
21-27264173-AA-GC c.2071_2072delinsGC p.Phe691Ala Missense 17/18 - 1
21-27264176-AA-CC c.2068_2069delinsGG p.Phe690Gly Missense 17/18 - 2
21-27264176-AA-GC c.2068_2069delinsGC p.Phe690Ala Missense 17/18 - 1
21-27264176-A-G c.2069T>C p.Phe690Ser Missense 17/18 - 1
21-27266763-C-G c.2065-2583G>C - IntronicSNV - 16/17 2
21-27266763-C-T c.2065-2583G>A - IntronicSNV - 16/17 2
21-27269888-T-A c.2061A>T p.Lys687Asn Missense 16/18 - 8
21-27269888-T-G c.2061A>C p.Lys687Asn Missense 16/18 - 8
21-27269890-T-G c.2059A>C p.Lys687Gln Missense 16/18 - 1
21-27269891-TTG-TGT c.2056_2057delinsAC p.Gln686Thr Missense 16/18 - 1
21-27269898-T-C c.2051A>G p.His684Arg Missense 16/18 - 3
21-27269903-TTC-AAC c.2045_2046delinsTT p.Glu682Val Missense 16/18 - 1
21-27269904-T-A c.2045A>T p.Glu682Val Missense 16/18 - 1
21-27269904-T-G c.2045A>C p.Glu682Ala Missense 16/18 - 1
21-27269905-C-T c.2044G>A p.Glu682Lys Missense 16/18 - 15
21-27269907-TA-GC c.2041_2042delinsGC p.Tyr681Ala Missense 16/18 - 1
21-27269915-G-A c.2034C>T p.Asp678Asp Synonymous 16/18 - 1
21-27269917-C-G c.2032G>C p.Asp678His Missense 16/18 - 10
21-27269917-C-T c.2032G>A p.Asp678Asn Missense 16/18 - 12
21-27269919-T-C c.2030A>G p.His677Arg Missense 16/18 - 6
21-27269925-A-C c.2024T>G p.Phe675Cys Missense 16/18 - 1
21-27269928-T-C c.2021A>G p.Glu674Gly Missense 16/18 - 1
21-27269929-C-T c.2020G>A p.Glu674Lys Missense 16/18 - 1
21-27269931-G-A c.2018C>T p.Ala673Val Missense 16/18 - 75
21-27269931-GC-CT c.2017_2018delinsAG p.Ala673Arg Missense 16/18 - 1
21-27269932-C-T c.2017G>A p.Ala673Thr Missense 16/18 - 166
21-27269936-CA-AC c.2012_2013delinsGT p.Met671Ser Missense 16/18 - 2
21-27269938-T-A c.2011A>T p.Met671Leu Missense 16/18 - 415
21-27269938-T-C c.2011A>G p.Met671Val Missense 16/18 - 6
21-27269938-T-G c.2011A>C p.Met671Leu Missense 16/18 - 415
21-27269939-C-A c.2010G>T p.Lys670Asn Missense 16/18 - 904
21-27269939-C-G c.2010G>C p.Lys670Asn Missense 16/18 - 904
21-27269939-CTT-GAC c.2008_2010delinsGTC p.Lys670Val Missense 16/18 - 2
21-27269940-T-A c.2009A>T p.Lys670Met Missense 16/18 - 143
21-27269940-TT-CT c.2009delinsG p.Lys670Arg Missense 16/18 - 5
21-27269944-C-G c.2005G>C p.Val669Leu Missense 16/18 - 2
21-27269954-C-A c.1995G>T p.Glu665Asp Missense 16/18 - 3
21-27269954-C-G c.1995G>C p.Glu665Asp Missense 16/18 - 3
21-27269958-CTCC-C c.1993_1995del p.Glu665del InFrameDeletion 16/18 - 1
21-27269961-G-A c.1988C>T p.Thr663Met Missense 16/18 - 3
21-27269971-T-A c.1978A>T p.Asn660Tyr Missense 16/18 - 5
21-27269983-A-C c.1966T>G p.Ser656Ala Missense 16/18 - 1
21-27272159-T-C c.1964-2174A>G - IntronicSNV - 15/17 4
21-27274089-T-G c.1963+3247A>C - IntronicSNV - 15/17 2
21-27277348-T-C c.1951A>G p.Thr651Ala Missense 15/18 - 1
21-27277885-T-C c.1910-496A>G - IntronicSNV - 14/17 1
21-27280038-C-A c.1910-2649G>T - IntronicSNV - 14/17 2
21-27280038-C-T c.1910-2649G>A - IntronicSNV - 14/17 2
21-27281177-A-G c.1909+2876T>C - IntronicSNV - 14/17 1
21-27284088-CC-AA c.1873_1874delinsTT p.Gly625Leu Missense 14/18 - 1
21-27284088-CC-CT c.1873delinsA p.Gly625Arg Missense 14/18 - 1
21-27284088-C-G c.1874G>C p.Gly625Ala Missense 14/18 - 2
21-27284089-C-A c.1873G>T p.Gly625Trp Missense 14/18 - 1
21-27284103-G-A c.1859C>T p.Pro620Leu Missense 14/18 - 4
21-27284104-G-C c.1858C>G p.Pro620Ala Missense 14/18 - 3
21-27284122-T-C c.1840A>G p.Ser614Gly Missense 14/18 - 3
21-27284130-C-G c.1832G>C p.Gly611Ala Missense 14/18 - 1
21-27284140-G-C c.1822C>G p.Pro608Ala Missense 14/18 - 1
21-27284152-C-T c.1810G>A p.Val604Met Missense 14/18 - 3
21-27284163-G-A c.1799C>T p.Thr600Met Missense 14/18 - 3
21-27284167-C-T c.1795G>A p.Glu599Lys Missense 14/18 - 11
21-27284211-G-C c.1751C>G p.Pro584Arg Missense 14/18 - 1
21-27284214-T-C c.1748A>G p.Glu583Gly Missense 14/18 - 1
21-27284232-A-C c.1730T>G p.Leu577Trp Missense 14/18 - 1
21-27285105-T-A c.1688-831A>T - IntronicSNV - 13/17 1
21-27285105-T-G c.1688-831A>C - IntronicSNV - 13/17 1
21-27287924-G-A c.1688-3650C>T - IntronicSNV - 13/17 1
21-27287924-G-T c.1688-3650C>A - IntronicSNV - 13/17 1
21-27298769-A-G c.1688-14495T>C - IntronicSNV - 13/17 2
21-27304252-C-T c.1688-19978G>A - IntronicSNV - 13/17 1
21-27312487-A-G c.1687+14417T>C - IntronicSNV - 13/17 1
21-27314945-C-T c.1687+11959G>A - IntronicSNV - 13/17 1
21-27316874-G-A c.1687+10030C>T - IntronicSNV - 13/17 1
21-27319269-A-T c.1687+7635T>A - IntronicSNV - 13/17 1
21-27319934-C-G c.1687+6970G>C - IntronicSNV - 13/17 1
21-27323704-A-C c.1687+3200T>G - IntronicSNV - 13/17 1
21-27325288-G-A c.1687+1616C>T - IntronicSNV - 13/17 1
21-27326859-G-A c.1687+45C>T - IntronicSNV - 13/17 1
21-27326907-C-T c.1684G>A p.Val562Ile Missense 13/18 - 3
21-27326936-G-C c.1655C>G p.Pro552Arg Missense 13/18 - 3
21-27326936-G-T c.1655C>A p.Pro552His Missense 13/18 - 1
21-27326979-A-G c.1612T>C p.Tyr538His Missense 13/18 - 5
21-27326987-C-T c.1604G>A p.Arg535His Missense 13/18 - 1
21-27327946-A-C c.1582T>G p.Ser528Ala Missense 12/18 - 1
21-27327973-C-T c.1555G>A p.Asp519Asn Missense 12/18 - 1
21-27327982-G-A c.1546C>T p.Arg516Cys Missense 12/18 - 2
21-27327998-C-A c.1530G>T p.Lys510Asn Missense 12/18 - 1
21-27327998-C-G c.1530G>C p.Lys510Asn Missense 12/18 - 1
21-27328025-TTC-TGT c.1501_1502delinsAC p.Glu501Thr Missense 12/18 - 1
21-27328030-C-T c.1498G>A p.Ala500Thr Missense 12/18 - 3
21-27328033-G-A c.1495C>T p.Arg499Cys Missense 12/18 - 1
21-27328042-T-G c.1486A>C p.Lys496Gln Missense 12/18 - 5
21-27328062-TG-GC c.1465_1466delinsGC p.His489Ala Missense 12/18 - 1
21-27328175-T-C c.1459-106A>G - IntronicSNV - 11/17 2
21-27330738-G-A c.1459-2669C>T - IntronicSNV - 11/17 1
21-27330738-G-C c.1459-2669C>G - IntronicSNV - 11/17 1
21-27330859-A-G c.1459-2790T>C - IntronicSNV - 11/17 1
21-27335022-A-G c.1459-6953T>C - IntronicSNV - 11/17 2
21-27336168-C-T c.1459-8099G>A - IntronicSNV - 11/17 1
21-27338298-T-A c.1458+9085A>T - IntronicSNV - 11/17 1
21-27338298-T-C c.1458+9085A>G - IntronicSNV - 11/17 1
21-27343288-T-C c.1458+4095A>G - IntronicSNV - 11/17 2
21-27344189-A-C c.1458+3194T>G - IntronicSNV - 11/17 2
21-27347391-G-A c.1450C>T p.Pro484Ser Missense 11/18 - 1
21-27347406-C-A c.1435G>T p.Ala479Ser Missense 11/18 - 2
21-27347423-AG-GA c.1417_1418delinsTC p.Leu473Ser Missense 11/18 - 1
21-27347438-C-T c.1403G>A p.Arg468His Missense 11/18 - 3
21-27347487-G-C c.1354C>G p.Gln452Glu Missense 11/18 - 1
21-27347519-G-A c.1322C>T p.Ser441Phe Missense 11/18 - 1
21-27347528-TT-GC c.1312_1313delinsGC p.Lys438Ala Missense 11/18 - 1
21-27348292-T-C c.1274A>G p.Lys425Arg Missense 10/18 - 1
21-27348304-TT-GC c.1261_1262delinsGC p.Lys421Ala Missense 10/18 - 1
21-27348313-C-G c.1253G>C p.Arg418Pro Missense 10/18 - 1
21-27348313-CG-GC c.1252_1253delinsGC p.Arg418Ala Missense 10/18 - 1
21-27348316-T-C c.1250A>G p.Glu417Gly Missense 10/18 - 1
21-27348328-CA-GC c.1237_1238delinsGC p.Trp413Ala Missense 10/18 - 1
21-27348372-A-G c.1225-31T>C - IntronicSNV - 9/17 1
21-27354686-C-T c.1195G>A p.Glu399Lys Missense 9/18 - 1
21-27354688-A-C c.1193T>G p.Leu398Arg Missense 9/18 - 3
21-27354691-C-G c.1190G>C p.Arg397Thr Missense 9/18 - 1
21-27354727-T-G c.1154A>C p.Glu385Ala Missense 9/18 - 1
21-27354728-C-G c.1153G>C p.Glu385Gln Missense 9/18 - 1
21-27354730-T-G c.1151A>C p.Asp384Ala Missense 9/18 - 1
21-27354757-A-G c.1124T>C p.Val375Ala Missense 9/18 - 1
21-27354776-C-T c.1105G>A p.Ala369Thr Missense 9/18 - 1
21-27354785-T-C c.1096A>G p.Thr366Ala Missense 9/18 - 1
21-27354793-A-G c.1091-3T>C - IntronicSNV - 8/17 1
21-27355017-T-C c.1091-227A>G - IntronicSNV - 8/17 2
21-27359663-C-T c.1091-4873G>A - IntronicSNV - 8/17 1
21-27361768-C-A c.1091-6978G>T - IntronicSNV - 8/17 1
21-27362519-A-G c.1090+7156T>C - IntronicSNV - 8/17 1
21-27362519-A-T c.1090+7156T>A - IntronicSNV - 8/17 1
21-27369355-T-G c.1090+320A>C - IntronicSNV - 8/17 1
21-27369675-G-A c.1090C>T p.Leu364Phe Missense 8/18 - 1
21-27369690-G-A c.1075C>T p.Arg359* Nonsense 8/18 - 1
21-27369705-G-T c.1060C>A p.Gln354Lys Missense 8/18 - 1
21-27369708-T-C c.1057A>G p.Thr353Ala Missense 8/18 - 1
21-27369729-A-C c.1036T>G p.Ser346Ala Missense 8/18 - 1
21-27370876-C-T c.1034-1145G>A - IntronicSNV - 7/17 1
21-27371653-T-C c.1033+677A>G - IntronicSNV - 7/17 1
21-27371667-C-T c.1033+663G>A - IntronicSNV - 7/17 1
21-27372331-G-C c.1032C>G p.Ala344Ala Synonymous 7/18 - 2
21-27372331-G-T c.1032C>A p.Ala344Ala Synonymous 7/18 - 2
21-27372332-G-A c.1031C>T p.Ala344Val Missense 7/18 - 2
21-27372337-GCC-AAG c.1024_1026delinsCTT p.Gly342Leu Missense 7/18 - 1
21-27372345-C-T c.1018G>A p.Val340Met Missense 7/18 - 4
21-27372368-T-C c.995A>G p.Asp332Gly Missense 7/18 - 1
21-27372380-CG-GC c.982_983delinsGC p.Arg328Ala Missense 7/18 - 1
21-27372381-G-A c.982C>T p.Arg328Trp Missense 7/18 - 2
21-27372394-T-C c.969A>G p.Gly323Gly Synonymous 7/18 - 1
21-27372395-C-G c.968G>C p.Gly323Ala Missense 7/18 - 2
21-27372398-C-G c.965G>C p.Gly322Ala Missense 7/18 - 1
21-27372399-C-A c.964G>T p.Gly322Cys Missense 7/18 - 1
21-27372401-T-A c.962A>T p.Tyr321Phe Missense 7/18 - 1
21-27372413-G-A c.950C>T p.Ala317Val Missense 7/18 - 1
21-27372429-T-C c.934A>G p.Thr312Ala Missense 7/18 - 1
21-27372439-G-C c.924C>G p.Tyr308* Nonsense 7/18 - 1
21-27372439-G-T c.924C>A p.Tyr308* Nonsense 7/18 - 1
21-27372450-A-C c.913T>G p.Ser305Ala Missense 7/18 - 1
21-27372455-A-G c.908T>C p.Met303Thr Missense 7/18 - 1
21-27372459-C-T c.904G>A p.Ala302Thr Missense 7/18 - 1
21-27372460-TCG-AGC c.901_903delinsGCT p.Arg301Ala Missense 7/18 - 1
21-27372461-C-A c.902G>T p.Arg301Leu Missense 7/18 - 1
21-27372467-G-A c.896C>T p.Pro299Leu Missense 7/18 - 2
21-27372470-CC-AC c.893delinsT p.Gly298Val Missense 7/18 - 1
21-27372473-G-A c.890C>T p.Thr297Met Missense 7/18 - 2
21-27372477-C-T c.886G>A p.Glu296Lys Missense 7/18 - 2
21-27372483-G-A c.880C>T p.Gln294* Nonsense 7/18 - 1
21-27372497-T-A c.866A>T p.Glu289Val Missense 7/18 - 1
21-27374604-C-A c.866-2107G>T - IntronicSNV - 6/17 1
21-27387570-C-T c.865+6586G>A - IntronicSNV - 6/17 1
21-27391459-T-C c.865+2697A>G - IntronicSNV - 6/17 1
21-27394159-G-A c.862C>T p.Arg288* Nonsense 6/18 - 1
21-27394161-A-C c.860T>G p.Val287Gly Missense 6/18 - 3
21-27394173-A-G c.848T>C p.Val283Ala Missense 6/18 - 1
21-27394177-A-C c.844T>G p.Ser282Ala Missense 6/18 - 1
21-27394179-T-G c.842A>C p.Glu281Ala Missense 6/18 - 1
21-27394181-CTGT-C c.838_840del p.Thr280del InFrameDeletion 6/18 - 1
21-27394182-G-C c.839C>G p.Thr280Arg Missense 6/18 - 1
21-27394183-T-C c.838A>G p.Thr280Ala Missense 6/18 - 1
21-27394184-GG-AG c.837delinsT p.Thr279Thr Missense 6/18 - 1
21-27394185-G-A c.836C>T p.Thr279Ile Missense 6/18 - 1
21-27394195-T-A c.826A>T p.Thr276Ser Missense 6/18 - 3
21-27394206-AT-GC c.814_815delinsGC p.Ile272Ala Missense 6/18 - 1
21-27394222-C-G c.799G>C p.Glu267Gln Missense 6/18 - 2
21-27394223-T-A c.798A>T p.Thr266Thr Synonymous 6/18 - 1
21-27394223-T-C c.798A>G p.Thr266Thr Synonymous 6/18 - 1
21-27394223-T-G c.798A>C p.Thr266Thr Synonymous 6/18 - 1
21-27394251-TC-AC c.770delinsT p.Glu257Val Missense 6/18 - 1
21-27394254-TTC-T c.766_767del p.Glu256Argfs*3 Frameshift 6/18 - 1
21-27394278-T-C c.743A>G p.Asp248Gly Missense 6/18 - 1
21-27394279-C-T c.742G>A p.Asp248Asn Missense 6/18 - 1
21-27394284-T-G c.737A>C p.Glu246Ala Missense 6/18 - 1
21-27394285-C-T c.736G>A p.Glu246Lys Missense 6/18 - 3
21-27394287-T-C c.734A>G p.Asp245Gly Missense 6/18 - 1
21-27394290-T-C c.731A>G p.Asp244Gly Missense 6/18 - 1
21-27394294-C-T c.727G>A p.Asp243Asn Missense 6/18 - 2
21-27394295-G-A c.726C>T p.Ala242Ala Synonymous 6/18 - 1
21-27394295-G-C c.726C>G p.Ala242Ala Synonymous 6/18 - 1
21-27394295-G-T c.726C>A p.Ala242Ala Synonymous 6/18 - 1
21-27394303-C-T c.718G>A p.Glu240Lys Missense 6/18 - 1
21-27394317-G-A c.704C>T p.Ala235Val Missense 6/18 - 2
21-27394347-A-G c.674T>C p.Val225Ala Missense 6/18 - 1
21-27397607-A-G c.663-3249T>C - IntronicSNV - 5/17 1
21-27402812-T-C c.663-8454A>G - IntronicSNV - 5/17 1
21-27402989-T-A c.663-8631A>T - IntronicSNV - 5/17 1
21-27408020-G-A c.663-13662C>T - IntronicSNV - 5/17 1
21-27412605-C-A c.662+10711G>T - IntronicSNV - 5/17 1
21-27412605-C-T c.662+10711G>A - IntronicSNV - 5/17 1
21-27416117-T-TT c.662+7201dup - IntronicInsertion - 5/17 1
21-27423319-C-T c.659G>A p.Gly220Glu Missense 5/18 - 1
21-27423333-TGT-GAC c.643_645delinsGTC p.Thr215Val Missense 5/18 - 1
21-27423333-TGT-TAT c.644delinsT p.Thr215Ile Missense 5/18 - 2
21-27423362-A-C c.616T>G p.Ser206Ala Missense 5/18 - 1
21-27423362-GA-G c.616del p.Ser206Argfs*20 Frameshift 5/18 - 1
21-27423370-T-C c.608A>G p.Glu203Gly Missense 5/18 - 1
21-27423371-C-T c.607G>A p.Glu203Lys Missense 5/18 - 1
21-27423376-G-A c.602C>T p.Ala201Val Missense 5/18 - 4
21-27423378-A-G c.600T>C p.Asp200Asp Synonymous 5/18 - 1
21-27423390-CA-AC c.587_588delinsGT p.Val196Gly Missense 5/18 - 1
21-27423397-T-G c.581A>C p.Asp194Ala Missense 5/18 - 1
21-27423400-CT-GC c.577_578delinsGC p.Ser193Ala Missense 5/18 - 1
21-27423404-C-T c.574G>A p.Glu192Lys Missense 5/18 - 1
21-27423409-G-A c.569C>T p.Ala190Val Missense 5/18 - 1
21-27423421-CA-GC c.556_557delinsGC p.Cys186Ala Missense 5/18 - 3
21-27423430-T-G c.548A>C p.Glu183Ala Missense 5/18 - 2
21-27423432-TAC-ATG c.544_546delinsCAT p.Val182His Missense 5/18 - 1
21-27423432-T-C c.546A>G p.Val182Val Synonymous 5/18 - 1
21-27423439-CG-GC c.538_539delinsGC p.Arg180Ala Missense 5/18 - 1
21-27423444-C-T c.534G>A p.Lys178Lys Synonymous 5/18 - 1
21-27423445-TT-GC c.532_533delinsGC p.Lys178Ala Missense 5/18 - 1
21-27423449-C-T c.529G>A p.Asp177Asn Missense 5/18 - 3
21-27423452-T-C c.526A>G p.Ile176Val Missense 5/18 - 1
21-27423480-A-G c.498T>C p.His166His Synonymous 5/18 - 1
21-27423491-T-C c.487A>G p.Thr163Ala Missense 5/18 - 1
21-27423495-C-A c.483G>T p.Lys161Asn Missense 5/18 - 1
21-27423495-C-G c.483G>C p.Lys161Asn Missense 5/18 - 1
21-27423499-T-G c.479A>C p.Glu160Ala Missense 5/18 - 1
21-27423506-A-G c.472T>C p.Cys158Arg Missense 5/18 - 1
21-27423547-A-T c.469-38T>A - IntronicSNV - 4/17 1
21-27424038-T-C c.469-529A>G - IntronicSNV - 4/17 1
21-27425565-GT-TG c.454_455delinsCA p.Thr152His Missense 4/18 - 1
21-27425566-T-C c.454A>G p.Thr152Ala Missense 4/18 - 1
21-27425568-TG-GC c.451_452delinsGC p.His151Ala Missense 4/18 - 1
21-27425569-G-T c.451C>A p.His151Asn Missense 4/18 - 1
21-27425570-CC-AT c.449_450delinsAT p.Trp150Tyr Missense 4/18 - 1
21-27425570-CC-TT c.449_450delinsAA p.Trp150* Missense 4/18 - 1
21-27425571-CA-AA c.449delinsT p.Trp150Leu Missense 4/18 - 1
21-27425571-CA-GC c.448_449delinsGC p.Trp150Ala Missense 4/18 - 1
21-27425572-A-G c.448T>C p.Trp150Arg Missense 4/18 - 1
21-27425572-A-T c.448T>A p.Trp150Arg Missense 4/18 - 1
21-27425574-TG-GC c.445_446delinsGC p.His149Ala Missense 4/18 - 3
21-27425575-G-T c.445C>A p.His149Asn Missense 4/18 - 1
21-27425577-AG-GC c.442_443delinsGC p.Leu148Ala Missense 4/18 - 1
21-27425580-TG-GC c.439_440delinsGC p.His147Ala Missense 4/18 - 1
21-27425581-G-T c.439C>A p.His147Asn Missense 4/18 - 1
21-27425583-GT-TG c.436_437delinsCA p.Thr146His Missense 4/18 - 1
21-27425587-C-T c.433G>A p.Glu145Lys Missense 4/18 - 1
21-27425596-C-T c.424G>A p.Asp142Asn Missense 4/18 - 1
21-27425597-C-A c.423G>T p.Met141Ile Missense 4/18 - 1
21-27425597-C-G c.423G>C p.Met141Ile Missense 4/18 - 1
21-27425597-C-T c.423G>A p.Met141Ile Missense 4/18 - 1
21-27425598-AT-GC c.421_422delinsGC p.Met141Ala Missense 4/18 - 1
21-27425599-T-A c.421A>T p.Met141Leu Missense 4/18 - 2
21-27425599-T-G c.421A>C p.Met141Leu Missense 4/18 - 2
21-27425601-CT-GC c.418_419delinsGC p.Arg140Ala Missense 4/18 - 1
21-27425604-T-G c.416A>C p.Glu139Ala Missense 4/18 - 1
21-27425605-C-T c.415G>A p.Glu139Lys Missense 4/18 - 1
21-27425607-T-C c.413A>G p.Gln138Arg Missense 4/18 - 1
21-27425607-TG-GC c.412_413delinsGC p.Gln138Ala Missense 4/18 - 1
21-27425610-T-C c.410A>G p.His137Arg Missense 4/18 - 1
21-27425610-TG-GC c.409_410delinsGC p.His137Ala Missense 4/18 - 2
21-27425612-T-A c.408A>T p.Leu136Phe Missense 4/18 - 1
21-27425612-T-G c.408A>C p.Leu136Phe Missense 4/18 - 1
21-27425625-TT-GC c.394_395delinsGC p.Lys132Ala Missense 4/18 - 1
21-27425630-AG-AA c.389delinsT p.Pro130Leu Missense 4/18 - 1
21-27425631-G-A c.389C>T p.Pro130Leu Missense 4/18 - 2
21-27425633-AAC-ATG c.385_386delinsCA p.Val129His Missense 4/18 - 1
21-27425633-A-C c.387T>G p.Val129Val Synonymous 4/18 - 1
21-27425633-A-G c.387T>C p.Val129Val Synonymous 4/18 - 1
21-27425633-A-T c.387T>A p.Val129Val Synonymous 4/18 - 1
21-27425644-C-T c.376G>A p.Ala126Thr Missense 4/18 - 1
21-27425658-T-G c.362A>C p.Glu121Ala Missense 4/18 - 1
21-27425660-A-C c.360T>G p.Gly120Gly Synonymous 4/18 - 1
21-27425660-A-G c.360T>C p.Gly120Gly Synonymous 4/18 - 1
21-27425660-A-T c.360T>A p.Gly120Gly Synonymous 4/18 - 1
21-27427248-G-T c.356-1584C>A - IntronicSNV - 3/17 2
21-27428256-C-A c.356-2592G>T - IntronicSNV - 3/17 2
21-27428256-C-T c.356-2592G>A - IntronicSNV - 3/17 2
21-27429317-C-T c.356-3653G>A - IntronicSNV - 3/17 1
21-27430925-T-C c.356-5261A>G - IntronicSNV - 3/17 2
21-27430925-T-G c.356-5261A>C - IntronicSNV - 3/17 2
21-27435525-C-A c.356-9861G>T - IntronicSNV - 3/17 3
21-27435525-C-T c.356-9861G>A - IntronicSNV - 3/17 3
21-27438501-C-G c.356-12837G>C - IntronicSNV - 3/17 1
21-27438501-C-T c.356-12837G>A - IntronicSNV - 3/17 1
21-27442596-A-G c.356-16932T>C - IntronicSNV - 3/17 2
21-27443650-G-A c.356-17986C>T - IntronicSNV - 3/17 2
21-27444110-T-C c.355+18149A>G - IntronicSNV - 3/17 1
21-27446432-C-T c.355+15827G>A - IntronicSNV - 3/17 1
21-27454995-T-C c.355+7264A>G - IntronicSNV - 3/17 2
21-27458409-A-G c.355+3850T>C - IntronicSNV - 3/17 2
21-27459674-C-G c.355+2585G>C - IntronicSNV - 3/17 2
21-27459674-C-T c.355+2585G>A - IntronicSNV - 3/17 2
21-27462264-CA-GC c.349_350delinsGC p.Cys117Ala Missense 3/18 - 2
21-27462265-A-C c.349T>G p.Cys117Gly Missense 3/18 - 1
21-27462268-G-A c.346C>T p.Arg116Cys Missense 3/18 - 1
21-27462270-T-C c.344A>G p.Tyr115Cys Missense 3/18 - 3
21-27462271-A-G c.343T>C p.Tyr115His Missense 3/18 - 1
21-27462276-A-G c.338T>C p.Ile113Thr Missense 3/18 - 1
21-27462286-G-T c.328C>A p.His110Asn Missense 3/18 - 1
21-27462300-CA-GC c.313_314delinsGC p.Cys105Ala Missense 3/18 - 1
21-27462300-C-G c.314G>C p.Cys105Ser Missense 3/18 - 1
21-27462301-A-T c.313T>A p.Cys105Ser Missense 3/18 - 1
21-27462307-T-G c.307A>C p.Lys103Gln Missense 3/18 - 1
21-27462309-CG-GC c.304_305delinsGC p.Arg102Ala Missense 3/18 - 1
21-27462314-CCG-ATC c.298_300delinsGAT p.Arg100Asp Missense 3/18 - 1
21-27462314-CCG-TAT c.298_300delinsATA p.Arg100Ile Missense 3/18 - 1
21-27462315-C-A c.299G>T p.Arg100Leu Missense 3/18 - 1
21-27462315-CG-GA c.298_299delinsTC p.Arg100Ser Missense 3/18 - 3
21-27462315-CG-GT c.298_299delinsAC p.Arg100Thr Missense 3/18 - 1
21-27462316-G-A c.298C>T p.Arg100Trp Missense 3/18 - 2
21-27462321-CA-GC c.292_293delinsGC p.Cys98Ala Missense 3/18 - 1
21-27462324-C-T c.290G>A p.Trp97* Nonsense 3/18 - 1
21-27462335-G-A c.279C>T p.Thr93Thr Synonymous 3/18 - 1
21-27462345-T-C c.269A>G p.Gln90Arg Missense 3/18 - 1
21-27462372-T-A c.242A>T p.Gln81Leu Missense 3/18 - 1
21-27462388-C-T c.226G>A p.Val76Ile Missense 3/18 - 1
21-27462422-T-C c.226-34A>G - IntronicSNV - 2/17 1
21-27462727-A-C c.226-339T>G - IntronicSNV - 2/17 1
21-27464270-A-G c.226-1882T>C - IntronicSNV - 2/17 1
21-27465355-T-C c.226-2967A>G - IntronicSNV - 2/17 2
21-27465355-T-G c.226-2967A>C - IntronicSNV - 2/17 2
21-27465597-C-T c.226-3209G>A - IntronicSNV - 2/17 2
21-27468740-C-T c.226-6352G>A - IntronicSNV - 2/17 1
21-27471711-C-T c.226-9323G>A - IntronicSNV - 2/17 1
21-27473875-C-A c.225+10421G>T - IntronicSNV - 2/17 1
21-27473875-C-T c.225+10421G>A - IntronicSNV - 2/17 1
21-27475811-A-C c.225+8485T>G - IntronicSNV - 2/17 1
21-27476104-G-T c.225+8192C>A - IntronicSNV - 2/17 3
21-27481317-T-G c.225+2979A>C - IntronicSNV - 2/17 1
21-27484297-TC-AC c.224delinsT p.Glu75Val Missense 2/18 - 1
21-27484309-T-A c.212A>T p.Gln71Leu Missense 2/18 - 1
21-27484319-C-A c.202G>T p.Gly68Cys Missense 2/18 - 1
21-27484327-GT-GG c.193delinsC p.Thr65Pro Missense 2/18 - 1
21-27484328-T-C c.193A>G p.Thr65Ala Missense 2/18 - 1
21-27484330-T-A c.191A>T p.Asp64Val Missense 2/18 - 1
21-27484333-A-G c.188T>C p.Ile63Thr Missense 2/18 - 1
21-27484335-G-T c.186C>A p.Cys62* Nonsense 2/18 - 1
21-27484336-C-G c.185G>C p.Cys62Ser Missense 2/18 - 1
21-27484337-A-T c.184T>A p.Cys62Ser Missense 2/18 - 1
21-27484339-G-A c.182C>T p.Thr61Ile Missense 2/18 - 1
21-27484349-C-G c.172G>C p.Gly58Arg Missense 2/18 - 1
21-27484349-C-T c.172G>A p.Gly58Arg Missense 2/18 - 1
21-27484352-A-G c.169T>C p.Ser57Pro Missense 2/18 - 1
21-27484362-ATC-TAA c.157_159delinsTTA p.Asp53Leu Nonsense 2/18 - 1
21-27484376-T-C c.145A>G p.Asn49Asp Missense 2/18 - 1
21-27484385-T-C c.136A>G p.Asn46Asp Missense 2/18 - 1
21-27484392-C-A c.129G>T p.Met43Ile Missense 2/18 - 1
21-27484392-C-G c.129G>C p.Met43Ile Missense 2/18 - 1
21-27484392-C-T c.129G>A p.Met43Ile Missense 2/18 - 1
21-27484395-GTT-CAA c.124_126delinsTTG p.Asn42Leu Missense 2/18 - 1
21-27484399-A-G c.122T>C p.Leu41Pro Missense 2/18 - 1
21-27484401-TCT-TGG c.118_119delinsCC p.Arg40Pro Missense 2/18 - 1
21-27484405-C-G c.116G>C p.Gly39Ala Missense 2/18 - 2
21-27484409-A-C c.112T>G p.Cys38Gly Missense 2/18 - 1
21-27484413-C-A c.108G>T p.Met36Ile Missense 2/18 - 3
21-27484413-C-G c.108G>C p.Met36Ile Missense 2/18 - 3
21-27484413-C-T c.108G>A p.Met36Ile Missense 2/18 - 3
21-27484418-C-T c.103G>A p.Ala35Thr Missense 2/18 - 2
21-27484421-T-C c.100A>G p.Ile34Val Missense 2/18 - 1
21-27484423-T-C c.98A>G p.Gln33Arg Missense 2/18 - 1
21-27484432-G-C c.89C>G p.Ala30Gly Missense 2/18 - 1
21-27484432-GC-TG c.88_89delinsCA p.Ala30His Missense 2/18 - 1
21-27484433-C-G c.88G>C p.Ala30Pro Missense 2/18 - 85
21-27484433-C-T c.88G>A p.Ala30Thr Missense 2/18 - 1
21-27484438-A-G c.83T>C p.Leu28Pro Missense 2/18 - 2
21-27484438-AG-GG c.83delinsC p.Leu28Pro Missense 2/18 - 1
21-27484439-G-C c.82C>G p.Leu28Val Missense 2/18 - 2
21-27484444-GC-AA c.76_77delinsTT p.Ala26Phe Missense 2/18 - 1
21-27484444-GC-TG c.76_77delinsCA p.Ala26His Missense 2/18 - 1
21-27484452-ATC-AAG c.67_68delinsCT p.Asp23Leu Missense 2/18 - 2
21-27484453-T-C c.68A>G p.Asp23Gly Missense 2/18 - 3
21-27484453-TC-AG c.67_68delinsCT p.Asp23Leu Missense 2/18 - 1
21-27484454-C-A c.67G>T p.Asp23Tyr Missense 2/18 - 1
21-27484454-C-T c.67G>A p.Asp23Asn Missense 2/18 - 68
21-27484456-G-T c.65C>A p.Thr22Asn Missense 2/18 - 5
21-27484459-GG-AA c.61_62delinsTT p.Pro21Phe Missense 2/18 - 1
21-27484460-G-A c.61C>T p.Pro21Ser Missense 2/18 - 1
21-27484460-G-C c.61C>G p.Pro21Ala Missense 2/18 - 1
21-27484968-T-C c.58-505A>G - IntronicSNV - 1/17 1
21-27488767-C-A c.58-4304G>T - IntronicSNV - 1/17 1
21-27488767-C-T c.58-4304G>A - IntronicSNV - 1/17 1
21-27494202-C-A c.58-9739G>T - IntronicSNV - 1/17 2
21-27494202-C-G c.58-9739G>C - IntronicSNV - 1/17 2
21-27494202-C-T c.58-9739G>A - IntronicSNV - 1/17 2
21-27496667-T-C c.58-12204A>G - IntronicSNV - 1/17 1
21-27497497-G-A c.58-13034C>T - IntronicSNV - 1/17 2
21-27500333-C-T c.58-15870G>A - IntronicSNV - 1/17 1
21-27500660-T-G c.58-16197A>C - IntronicSNV - 1/17 3
21-27501142-T-A c.58-16679A>T - IntronicSNV - 1/17 1
21-27501142-T-C c.58-16679A>G - IntronicSNV - 1/17 1
21-27502442-C-T c.58-17979G>A - IntronicSNV - 1/17 1
21-27502468-T-A c.58-18005A>T - IntronicSNV - 1/17 1
21-27502468-T-C c.58-18005A>G - IntronicSNV - 1/17 1
21-27502723-C-A c.58-18260G>T - IntronicSNV - 1/17 1
21-27503422-C-T c.58-18959G>A - IntronicSNV - 1/17 3
21-27506317-G-C c.58-21854C>G - IntronicSNV - 1/17 1
21-27506317-G-T c.58-21854C>A - IntronicSNV - 1/17 1
21-27508060-T-C c.58-23597A>G - IntronicSNV - 1/17 1
21-27512583-C-G c.58-28120G>C - IntronicSNV - 1/17 1
21-27512811-A-C c.58-28348T>G - IntronicSNV - 1/17 1
21-27512811-A-T c.58-28348T>A - IntronicSNV - 1/17 1
21-27512956-A-T c.58-28493T>A - IntronicSNV - 1/17 1
21-27513837-A-G c.57+29045T>C - IntronicSNV - 1/17 2
21-27514373-G-A c.57+28509C>T - IntronicSNV - 1/17 2
21-27514373-G-C c.57+28509C>G - IntronicSNV - 1/17 2
21-27514740-T-C c.57+28142A>G - IntronicSNV - 1/17 4
21-27515239-C-G c.57+27643G>C - IntronicSNV - 1/17 1
21-27515239-C-T c.57+27643G>A - IntronicSNV - 1/17 1
21-27517077-A-C c.57+25805T>G - IntronicSNV - 1/17 1
21-27517077-A-T c.57+25805T>A - IntronicSNV - 1/17 1
21-27517203-T-C c.57+25679A>G - IntronicSNV - 1/17 1
21-27520714-T-C c.57+22168A>G - IntronicSNV - 1/17 1
21-27520773-G-C c.57+22109C>G - IntronicSNV - 1/17 1
21-27521417-A-G c.57+21465T>C - IntronicSNV - 1/17 1
21-27522908-T-C c.57+19974A>G - IntronicSNV - 1/17 1
21-27530610-C-A c.57+12272G>T - IntronicSNV - 1/17 1
21-27530610-C-G c.57+12272G>C - IntronicSNV - 1/17 1
21-27531267-T-C c.57+11615A>G - IntronicSNV - 1/17 1
21-27532072-A-G c.57+10810T>C - IntronicSNV - 1/17 1
21-27533022-C-G c.57+9860G>C - IntronicSNV - 1/17 1
21-27533329-G-A c.57+9553C>T - IntronicSNV - 1/17 1
21-27534816-G-A c.57+8066C>T - IntronicSNV - 1/17 2
21-27535027-C-T c.57+7855G>A - IntronicSNV - 1/17 2
21-27537584-A-G c.57+5298T>C - IntronicSNV - 1/17 1
21-27542882-CTC-TGT c.55_57delinsACA p.Glu19Thr Missense 1/18 - 1
21-27542886-AG-GC c.52_53delinsGC p.Leu18Ala Missense 1/18 - 2
21-27542888-C-A c.51G>T p.Ala17Ala Synonymous 1/18 - 1
21-27542888-C-G c.51G>C p.Ala17Ala Synonymous 1/18 - 1
21-27542888-C-T c.51G>A p.Ala17Ala Synonymous 1/18 - 1
21-27542892-CG-GC c.46_47delinsGC p.Arg16Ala Missense 1/18 - 1
21-27542891-C-A c.48G>T p.Arg16Arg Synonymous 1/18 - 1
21-27542891-C-G c.48G>C p.Arg16Arg Synonymous 1/18 - 1
21-27542891-C-T c.48G>A p.Arg16Arg Synonymous 1/18 - 1
21-27542893-G-T c.46C>A p.Arg16Arg Synonymous 1/18 - 1
21-27542895-G-C c.44C>G p.Ala15Gly Missense 1/18 - 1
21-27542896-C-A c.43G>T p.Ala15Ser Missense 1/18 - 1
21-27542906-G-A c.33C>T p.Ala11Ala Synonymous 1/18 - 1
21-27542906-G-C c.33C>G p.Ala11Ala Synonymous 1/18 - 1
21-27542906-G-T c.33C>A p.Ala11Ala Synonymous 1/18 - 1
21-27542909-CAG-ATC c.28_30delinsGAT p.Leu10Asp Missense 1/18 - 3
21-27542910-A-G c.29T>C p.Leu10Pro Missense 1/18 - 1
21-27542910-AG-GC c.28_29delinsGC p.Leu10Ala Missense 1/18 - 4
21-27542917-G-A c.22C>T p.Leu8Phe Missense 1/18 - 1
21-27543049-C-G c.-111G>C - 5-UTRSNV 1/18 - 3
21-27543049-C-T c.-111G>A - 5-UTRSNV 1/18 - 3
21-27543086-G-A c.-148C>T - 5-UTRSNV 1/18 - 1