PC pyruvate carboxylase

Canonical transcript: NM_001040716

909 unique variant annotations were identified in 999 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
11-66616376-G-C c.3531C>G p.Ile1177Met Missense 23/23 - 1
11-66616414-C-G c.3493G>C p.Asp1165His Missense 23/23 - 1
11-66616459-T-C c.3448A>G p.Thr1150Ala Missense 23/23 - 1
11-66616462-C-G c.3445G>C p.Val1149Leu Missense 23/23 - 1
11-66616462-C-A c.3445G>T p.Val1149Leu Missense 23/23 - 1
11-66616472-C-CC c.3436dup p.Glu1146Glyfs*26 Frameshift 23/23 - 1
11-66616537-T-G c.3370A>C p.Lys1124Gln Missense 23/23 - 1
11-66616545-TA-T c.3362del p.Ile1121Lysfs*23 Frameshift 23/23 - 1
11-66616545-A-C c.3362T>G p.Ile1121Arg Missense 23/23 - 1
11-66616552-T-G c.3355A>C p.Lys1119Gln Missense 23/23 - 6
11-66616587-T-G c.3320A>C p.Asp1107Ala Missense 23/23 - 1
11-66616607-GAA-GAG c.3298delinsC p.Phe1100Leu Missense 23/23 - 1
11-66616700-C-T c.3288+1G>A - IntronicSNV - 22/22 1
11-66616723-AC-CA c.3265_3266delinsTG p.Val1089Cys Missense 22/23 - 1
11-66616806-T-C c.3183A>G p.Lys1061Lys Synonymous 22/23 - 1
11-66616808-T-G c.3181A>C p.Lys1061Gln Missense 22/23 - 2
11-66617083-T-TG c.3145_3146insC p.Glu1049Alafs*31 SpliceDonorInsertion 21/23 - 1
11-66617105-GGTCCCTGCAGG-G c.3116_3126del p.Leu1039Glnfs*7 Frameshift 21/23 - 1
11-66617125-GT-TG c.3103_3104delinsCA p.Thr1035His Missense 21/23 - 1
11-66617158-G-T c.3071C>A p.Thr1024Asn Missense 21/23 - 1
11-66617229-C-T c.3000G>A p.Glu1000Glu Synonymous 21/23 - 1
11-66617267-G-A c.2962C>T p.Gln988* Nonsense 21/23 - 1
11-66617302-CC-CT c.2926delinsA p.Gly976Arg Missense 21/23 - 1
11-66617322-CTT-TGT c.2906_2907delinsCA p.Lys969Thr Missense 21/23 - 1
11-66617329-A-G c.2900T>C p.Val967Ala Missense 21/23 - 1
11-66617437-C-T c.2869G>A p.Gly957Arg Missense 20/23 - 1
11-66617437-C-G c.2869G>C p.Gly957Arg Missense 20/23 - 1
11-66617439-TG-GC c.2866_2867delinsGC p.His956Ala Missense 20/23 - 1
11-66617457-CC-TT c.2848_2849delinsAA p.Gly950Asn Missense 20/23 - 1
11-66617501-CG-AC c.2804_2805delinsGT p.Ala935Gly Missense 20/23 - 1
11-66617504-C-G c.2802G>C p.Gln934His Missense 20/23 - 1
11-66617504-C-A c.2802G>T p.Gln934His Missense 20/23 - 1
11-66617506-G-A c.2800C>T p.Gln934* Nonsense 20/23 - 1
11-66617520-G-C c.2786C>G p.Ala929Gly Missense 20/23 - 1
11-66617523-C-G c.2783G>C p.Arg928Pro Missense 20/23 - 10
11-66617553-G-C c.2753C>G p.Ala918Gly Missense 20/23 - 1
11-66617562-C-G c.2744G>C p.Gly915Ala Missense 20/23 - 1
11-66617565-AC-CC c.2741delinsG p.Val914Gly Missense 20/23 - 1
11-66617570-C-G c.2736G>C p.Lys912Asn Missense 20/23 - 1
11-66617570-C-A c.2736G>T p.Lys912Asn Missense 20/23 - 1
11-66617571-T-G c.2735A>C p.Lys912Thr Missense 20/23 - 1
11-66617575-A-C c.2731T>G p.Ser911Ala Missense 20/23 - 1
11-66617584-T-C c.2722A>G p.Thr908Ala Missense 20/23 - 2
11-66617704-C-G c.2705G>C p.Gly902Ala Missense 19/23 - 1
11-66617704-CC-CT c.2704delinsA p.Gly902Ser Missense 19/23 - 1
11-66617708-G-A c.2701C>T p.Leu901Leu Synonymous 19/23 - 1
11-66617732-C-A c.2677G>T p.Ala893Ser Missense 19/23 - 1
11-66617734-TT-GC c.2674_2675delinsGC p.Lys892Ala Missense 19/23 - 1
11-66617758-C-G c.2651G>C p.Gly884Ala Missense 19/23 - 1
11-66617781-G-T c.2628C>A p.Phe876Leu Missense 19/23 - 22
11-66617781-G-C c.2628C>G p.Phe876Leu Missense 19/23 - 22
11-66617783-A-G c.2626T>C p.Phe876Leu Missense 19/23 - 22
11-66617786-G-A c.2623C>T p.His875Tyr Missense 19/23 - 5
11-66617800-TG-GC c.2608_2609delinsGC p.Gln870Ala Missense 19/23 - 1
11-66617803-C-T c.2606G>A p.Gly869Asp Missense 19/23 - 1
11-66617839-C-G c.2570G>C p.Gly857Ala Missense 19/23 - 3
11-66617869-GC-AT c.2539_2540delinsAT p.Ala847Ile Missense 19/23 - 1
11-66617869-G-A c.2540C>T p.Ala847Val Missense 19/23 - 1
11-66617877-CAG-TTT c.2530_2532delinsAAA p.Leu844Lys Missense 19/23 - 1
11-66617904-ACT-TGA c.2503_2505delinsTCA p.Ser835Ser Nonsense 19/23 - 1
11-66618161-CCC-TGT c.2455_2457delinsACA p.Gly819Thr Missense 18/23 - 1
11-66618162-C-G c.2456G>C p.Gly819Ala Missense 18/23 - 1
11-66618174-GGC-G c.2443_2444del p.Ala815Leufs*18 Frameshift 18/23 - 1
11-66618185-C-G c.2433G>C p.Gly811Gly Synonymous 18/23 - 1
11-66618185-C-A c.2433G>T p.Gly811Gly Synonymous 18/23 - 1
11-66618185-C-T c.2433G>A p.Gly811Gly Synonymous 18/23 - 1
11-66618185-CCC-TGT c.2431_2433delinsACA p.Gly811Thr Missense 18/23 - 1
11-66618192-CT-GC c.2425_2426delinsGC p.Ser809Ala Missense 18/23 - 2
11-66618200-TG-GT c.2417_2418delinsAC p.Ser806Tyr Missense 18/23 - 2
11-66618218-GGA-GAG c.2398_2399delinsCT p.Ser800Leu Missense 18/23 - 1
11-66618220-A-C c.2398T>G p.Ser800Ala Missense 18/23 - 2
11-66618239-CCAC-C c.2381_2383del p.Val794del InFrameDeletion 18/23 - 1
11-66618285-GC-CT c.2332_2333delinsAG p.Ala778Arg Missense 18/23 - 1
11-66618292-A-C c.2326T>G p.Ser776Ala Missense 18/23 - 2
11-66618327-G-A c.2291C>T p.Pro764Leu Missense 18/23 - 1
11-66618366-GC-CG c.2251_2252delinsCG p.Ala751Arg Missense 18/23 - 1
11-66618366-GC-TT c.2251_2252delinsAA p.Ala751Asn Missense 18/23 - 1
11-66618366-G-T c.2252C>A p.Ala751Asp Missense 18/23 - 1
11-66618381-AG-GC c.2236_2237delinsGC p.Leu746Ala Missense 18/23 - 1
11-66618389-C-A c.2229G>T p.Met743Ile Missense 18/23 - 5
11-66618389-C-G c.2229G>C p.Met743Ile Missense 18/23 - 5
11-66618389-C-T c.2229G>A p.Met743Ile Missense 18/23 - 5
11-66618528-G-A c.2206C>T p.His736Tyr Missense 17/23 - 1
11-66618540-G-C c.2194C>G p.Arg732Gly Missense 17/23 - 1
11-66618548-TC-AT c.2185_2186delinsAT p.Glu729Met Missense 17/23 - 1
11-66618552-C-A c.2182G>T p.Glu728* Nonsense 17/23 - 1
11-66618569-T-A c.2165A>T p.Tyr722Phe Missense 17/23 - 1
11-66618569-TA-AC c.2164_2165delinsGT p.Tyr722Val Missense 17/23 - 2
11-66618571-C-T c.2163G>A p.Gln721Gln Synonymous 17/23 - 1
11-66618581-TA-AC c.2152_2153delinsGT p.Tyr718Val Missense 17/23 - 1
11-66618591-G-A c.2143C>T p.Arg715Cys Missense 17/23 - 1
11-66618598-G-C c.2136C>G p.Asp712Glu Missense 17/23 - 3
11-66618598-G-T c.2136C>A p.Asp712Glu Missense 17/23 - 3
11-66618599-T-G c.2135A>C p.Asp712Ala Missense 17/23 - 2
11-66618602-GC-TG c.2131_2132delinsCA p.Ala711His Missense 17/23 - 1
11-66618611-CC-AT c.2122_2123delinsAT p.Gly708Ile Missense 17/23 - 1
11-66618614-G-A c.2120C>T p.Thr707Met Missense 17/23 - 1
11-66618620-G-C c.2114C>G p.Ser705* Nonsense 17/23 - 1
11-66618620-G-T c.2114C>A p.Ser705* Nonsense 17/23 - 1
11-66618621-A-C c.2113T>G p.Ser705Ala Missense 17/23 - 1
11-66618623-AT-GC c.2110_2111delinsGC p.Ile704Ala Missense 17/23 - 1
11-66618635-A-T c.2099T>A p.Val700Glu Missense 17/23 - 1
11-66618636-C-G c.2098G>C p.Val700Leu Missense 17/23 - 1
11-66618636-C-A c.2098G>T p.Val700Leu Missense 17/23 - 1
11-66618653-C-A c.2081G>T p.Gly694Val Missense 17/23 - 1
11-66618672-G-T c.2062C>A p.Leu688Met Missense 17/23 - 1
11-66618702-C-T c.2032G>A p.Asp678Asn Missense 17/23 - 1
11-66618710-CG-GC c.2023_2024delinsGC p.Arg675Ala Missense 17/23 - 1
11-66618723-T-A c.2011A>T p.Met671Leu Missense 17/23 - 3
11-66618723-T-G c.2011A>C p.Met671Leu Missense 17/23 - 3
11-66618724-GC-AG c.2009_2010delinsCT p.Gly670Ala Missense 17/23 - 1
11-66619274-T-A c.1969A>T p.Asn657Tyr Missense 16/23 - 1
11-66619279-G-A c.1964C>T p.Pro655Leu Missense 16/23 - 1
11-66619291-TA-GC c.1951_1952delinsGC p.Tyr651Ala Missense 16/23 - 1
11-66619306-G-T c.1937C>A p.Ala646Asp Missense 16/23 - 1
11-66619311-CCG-AGC c.1930_1932delinsGCT p.Arg644Ala Missense 16/23 - 1
11-66619312-CG-AA c.1930_1931delinsTT p.Arg644Leu Missense 16/23 - 1
11-66619312-CG-GC c.1930_1931delinsGC p.Arg644Ala Missense 16/23 - 1
11-66619325-G-A c.1918C>T p.Gln640* Nonsense 16/23 - 3
11-66619345-A-C c.1898T>G p.Leu633Arg Missense 16/23 - 1
11-66619347-C-T c.1896G>A p.Glu632Glu Synonymous 16/23 - 1
11-66619351-C-T c.1892G>A p.Arg631Gln Missense 16/23 - 3
11-66619354-AG-TG c.1889delinsA p.Leu630His Missense 16/23 - 1
11-66619363-A-G c.1880T>C p.Leu627Pro Missense 16/23 - 1
11-66619366-CG-GC c.1876_1877delinsGC p.Arg626Ala Missense 16/23 - 1
11-66619367-G-A c.1876C>T p.Arg626Trp Missense 16/23 - 1
11-66619377-GG-G c.1869del p.Trp624Glyfs*124 Frameshift 16/23 - 1
11-66619378-C-T c.1865G>A p.Cys622Tyr Missense 16/23 - 1
11-66619378-CA-GC c.1864_1865delinsGC p.Cys622Ala Missense 16/23 - 1
11-66619391-A-G c.1852T>C p.Phe618Leu Missense 16/23 - 1
11-66619399-G-A c.1844C>T p.Ala615Val Missense 16/23 - 1
11-66619414-G-A c.1829C>T p.Ala610Val Missense 16/23 - 1
11-66619415-C-T c.1828G>A p.Ala610Thr Missense 16/23 - 6
11-66619913-C-T c.1822G>A p.Gly608Arg Missense 15/23 - 1
11-66619929-G-T c.1806C>A p.Phe602Leu Missense 15/23 - 2
11-66619941-G-GTAG c.1794_1795insTAC p.Phe598_Ser599insTyr InFrameInsertion 15/23 - 1
11-66619965-GA-AG c.1769_1770delinsCT p.Ile590Thr Missense 15/23 - 1
11-66619966-AT-GA c.1768_1769delinsTC p.Ile590Ser Missense 15/23 - 1
11-66619970-T-G c.1765A>C p.Lys589Gln Missense 15/23 - 1
11-66619971-TTT-GAC c.1762_1764delinsGTC p.Lys588Val Missense 15/23 - 1
11-66619972-TT-GC c.1762_1763delinsGC p.Lys588Ala Missense 15/23 - 1
11-66619973-T-A c.1762A>T p.Lys588* Nonsense 15/23 - 1
11-66619982-G-A c.1753C>T p.His585Tyr Missense 15/23 - 1
11-66619990-A-G c.1745T>C p.Val582Ala Missense 15/23 - 1
11-66619993-CG-GC c.1741_1742delinsGC p.Arg581Ala Missense 15/23 - 1
11-66620002-AG-GC c.1732_1733delinsGC p.Leu578Ala Missense 15/23 - 1
11-66620016-G-A c.1719C>T p.Ala573Ala Synonymous 15/23 - 1
11-66620023-CT-GC c.1711_1712delinsGC p.Arg571Ala Missense 15/23 - 1
11-66620023-CT-TA c.1711_1712delinsTA p.Arg571* Nonsense 15/23 - 1
11-66620030-T-C c.1705A>G p.Thr569Ala Missense 15/23 - 1
11-66620035-T-A c.1700A>T p.Asp567Val Missense 15/23 - 1
11-66620049-CCC-TGT c.1684_1686delinsACA p.Gly562Thr Missense 15/23 - 1
11-66620054-G-T c.1681C>A p.Pro561Thr Missense 15/23 - 1
11-66620054-G-A c.1681C>T p.Pro561Ser Missense 15/23 - 1
11-66620062-CG-GC c.1672_1673delinsGC p.Arg558Ala Missense 15/23 - 1
11-66620068-GC-TG c.1666_1667delinsCA p.Ala556His Missense 15/23 - 1
11-66620083-T-G c.1652A>C p.Glu551Ala Missense 15/23 - 2
11-66620089-C-G c.1646G>C p.Gly549Ala Missense 15/23 - 1
11-66620092-T-G c.1643A>C p.Glu548Ala Missense 15/23 - 1
11-66620097-CAG-TGT c.1636_1638delinsACA p.Leu546Thr Missense 15/23 - 1
11-66620110-CT-GC c.1624_1625delinsGC p.Arg542Ala Missense 15/23 - 1
11-66620120-C-T c.1615G>A p.Ala539Thr Missense 15/23 - 2
11-66620122-G-T c.1613C>A p.Pro538Gln Missense 15/23 - 1
11-66620124-G-T c.1611C>A p.Pro537Pro Synonymous 15/23 - 2
11-66620130-G-T c.1605C>A p.Gly535Gly Synonymous 15/23 - 1
11-66620224-G-C c.1597C>G p.Pro533Ala Missense 14/23 - 1
11-66620241-G-A c.1580C>T p.Pro527Leu Missense 14/23 - 1
11-66620241-G-T c.1580C>A p.Pro527His Missense 14/23 - 1
11-66620252-GCT-TGG c.1567_1569delinsCCA p.Ser523Pro Missense 14/23 - 1
11-66620256-GG-TG c.1565delinsA p.Pro522His Missense 14/23 - 1
11-66620259-C-G c.1562G>C p.Ser521Thr Missense 14/23 - 1
11-66620264-CTT-TGT c.1556_1557delinsCA p.Lys519Thr Missense 14/23 - 1
11-66620266-T-C c.1555A>G p.Lys519Glu Missense 14/23 - 1
11-66620274-AT-TG c.1546_1547delinsCA p.Ile516His Missense 14/23 - 1
11-66620278-G-C c.1543C>G p.Pro515Ala Missense 14/23 - 1
11-66620712-AG-TA c.1510_1511delinsTA p.Leu504Tyr Missense 13/23 - 1
11-66620719-G-A c.1504C>T p.His502Tyr Missense 13/23 - 1
11-66620735-CC-AT c.1487_1488delinsAT p.Arg496His Missense 13/23 - 2
11-66620736-C-T c.1487G>A p.Arg496Gln Missense 13/23 - 1
11-66620777-G-T c.1446C>A p.Asp482Glu Missense 13/23 - 1
11-66620777-G-C c.1446C>G p.Asp482Glu Missense 13/23 - 1
11-66620778-TC-TG c.1444delinsC p.Asp482His Missense 13/23 - 1
11-66620779-C-T c.1444G>A p.Asp482Asn Missense 13/23 - 1
11-66620781-A-T c.1442T>A p.Ile481Asn Missense 13/23 - 1
11-66620788-G-C c.1435C>G p.Gln479Glu Missense 13/23 - 1
11-66620794-C-T c.1429G>A p.Asp477Asn Missense 13/23 - 1
11-66620823-TT-GC c.1399_1400delinsGC p.Asn467Ala Missense 13/23 - 1
11-66620833-T-G c.1390A>C p.Asn464His Missense 13/23 - 1
11-66620838-A-T c.1385T>A p.Leu462Gln Missense 13/23 - 1
11-66620839-G-C c.1384C>G p.Leu462Val Missense 13/23 - 1
11-66620840-GA-AA c.1383delinsT p.Phe461Phe Nonsense 13/23 - 1
11-66620850-T-A c.1373A>T p.Asn458Ile Missense 13/23 - 2
11-66620851-T-A c.1372A>T p.Asn458Tyr Missense 13/23 - 4
11-66620883-T-C c.1369-29A>G - IntronicSNV - 12/22 1
11-66621383-C-T c.1369-529G>A - IntronicSNV - 12/22 1
11-66626234-T-C c.1368+5011A>G - IntronicSNV - 12/22 1
11-66631245-CTT-GAC c.1366_1368delinsGTC p.Lys456Val Missense 12/23 - 1
11-66631254-TC-AT c.1358_1359delinsAT p.Arg453His Missense 12/23 - 1
11-66631255-CG-GC c.1357_1358delinsGC p.Arg453Ala Missense 12/23 - 1
11-66631257-GAC-ATG c.1354_1356delinsCAT p.Val452His Missense 12/23 - 1
11-66631258-A-G c.1355T>C p.Val452Ala Missense 12/23 - 2
11-66631258-A-T c.1355T>A p.Val452Asp Missense 12/23 - 1
11-66631261-CG-GC c.1351_1352delinsGC p.Arg451Ala Missense 12/23 - 1
11-66631262-G-A c.1351C>T p.Arg451Cys Missense 12/23 - 8
11-66631264-A-T c.1349T>A p.Phe450Tyr Missense 12/23 - 1
11-66631277-C-A c.1336G>T p.Ala446Ser Missense 12/23 - 1
11-66631282-CT-GC c.1330_1331delinsGC p.Ser444Ala Missense 12/23 - 1
11-66631289-T-C c.1324A>G p.Lys442Glu Missense 12/23 - 2
11-66631294-GC-TG c.1318_1319delinsCA p.Ala440His Missense 12/23 - 1
11-66631294-G-A c.1319C>T p.Ala440Val Missense 12/23 - 1
11-66631297-GC-TG c.1315_1316delinsCA p.Ala439His Missense 12/23 - 1
11-66631303-G-T c.1310C>A p.Pro437His Missense 12/23 - 1
11-66631316-C-T c.1297G>A p.Gly433Ser Missense 12/23 - 2
11-66631321-G-A c.1292C>T p.Ala431Val Missense 12/23 - 1
11-66631324-AT-TG c.1288_1289delinsCA p.Ile430His Missense 12/23 - 1
11-66631329-TTT-GAC c.1282_1284delinsGTC p.Lys428Val Missense 12/23 - 1
11-66631334-C-CAGTA c.1278_1279insTACT p.Val427Tyrfs*126 Frameshift 12/23 - 1
11-66631336-A-G c.1277T>C p.Leu426Pro Missense 12/23 - 1
11-66631367-C-A c.1246G>T p.Ala416Ser Missense 12/23 - 1
11-66631372-T-C c.1241A>G p.Gln414Arg Missense 12/23 - 1
11-66631373-G-A c.1240C>T p.Gln414* Nonsense 12/23 - 3
11-66631379-C-T c.1234G>A p.Ala412Thr Missense 12/23 - 1
11-66631379-C-G c.1234G>C p.Ala412Pro Missense 12/23 - 1
11-66631391-C-T c.1222G>A p.Asp408Asn Missense 12/23 - 1
11-66631391-C-G c.1222G>C p.Asp408His Missense 12/23 - 1
11-66631395-GCG-TGG c.1217_1218delinsCA p.Arg406Pro Missense 12/23 - 1
11-66631396-C-A c.1217G>T p.Arg406Leu Missense 12/23 - 2
11-66631400-T-C c.1213A>G p.Ile405Val Missense 12/23 - 1
11-66631404-C-G c.1209G>C p.Met403Ile Missense 12/23 - 1
11-66631406-T-TC c.1206_1207insG p.Met403Aspfs*7 Frameshift 12/23 - 1
11-66631409-C-A c.1204G>T p.Gly402Cys Missense 12/23 - 1
11-66631410-CTC-CAT c.1201_1202delinsAT p.Glu401Met Missense 12/23 - 1
11-66631410-C-G c.1203G>C p.Glu401Asp Missense 12/23 - 1
11-66631410-C-A c.1203G>T p.Glu401Asp Missense 12/23 - 1
11-66631411-T-G c.1202A>C p.Glu401Ala Missense 12/23 - 1
11-66631416-GCT-TGA c.1195_1197delinsTCA p.Ser399Ser Nonsense 12/23 - 1
11-66631419-CCG-ATC c.1192_1194delinsGAT p.Arg398Asp Missense 12/23 - 1
11-66631420-CG-GC c.1192_1193delinsGC p.Arg398Ala Missense 12/23 - 1
11-66631420-CG-GA c.1192_1193delinsTC p.Arg398Ser Missense 12/23 - 1
11-66631420-C-T c.1193G>A p.Arg398Gln Missense 12/23 - 3
11-66633658-CTC-TGT c.1183_1185delinsACA p.Glu395Thr Missense 11/23 - 1
11-66633665-CG-GC c.1177_1178delinsGC p.Arg393Ala Missense 11/23 - 1
11-66633665-C-A c.1178G>T p.Arg393Leu Missense 11/23 - 1
11-66633667-GC-AG c.1175_1176delinsCT p.Gly392Ala Missense 11/23 - 1
11-66633669-C-G c.1174G>C p.Gly392Arg Missense 11/23 - 1
11-66633681-G-A c.1162C>T p.Gln388* Nonsense 11/23 - 1
11-66633681-G-C c.1162C>G p.Gln388Glu Missense 11/23 - 1
11-66633683-A-G c.1160T>C p.Phe387Ser Missense 11/23 - 1
11-66633683-AA-GC c.1159_1160delinsGC p.Phe387Ala Missense 11/23 - 1
11-66633688-GCG-TGA c.1153_1155delinsTCA p.Arg385Ser Nonsense 11/23 - 1
11-66633689-C-T c.1154G>A p.Arg385His Missense 11/23 - 1
11-66633690-G-A c.1153C>T p.Arg385Cys Missense 11/23 - 1
11-66633692-G-C c.1151C>G p.Ala384Gly Missense 11/23 - 1
11-66633693-C-A c.1150G>T p.Ala384Ser Missense 11/23 - 3
11-66633699-C-A c.1144G>T p.Asp382Tyr Missense 11/23 - 1
11-66633701-TC-AC c.1142delinsT p.Glu381Val Missense 11/23 - 1
11-66633705-T-C c.1138A>G p.Thr380Ala Missense 11/23 - 5
11-66633712-CCG-AAC c.1129_1131delinsGTT p.Arg377Val Missense 11/23 - 1
11-66633714-G-A c.1129C>T p.Arg377Trp Missense 11/23 - 1
11-66633716-CA-AC c.1126_1127delinsGT p.Cys376Val Missense 11/23 - 1
11-66633720-G-A c.1123C>T p.Gln375* Nonsense 11/23 - 1
11-66633721-G-A c.1122C>T p.Ile374Ile Synonymous 11/23 - 1
11-66633725-G-A c.1118C>T p.Ala373Val Missense 11/23 - 2
11-66633726-C-T c.1117G>A p.Ala373Thr Missense 11/23 - 1
11-66633733-G-A c.1110C>T p.Asn370Asn Synonymous 11/23 - 1
11-66633734-T-C c.1109A>G p.Asn370Ser Missense 11/23 - 34
11-66633734-T-G c.1109A>C p.Asn370Thr Missense 11/23 - 1
11-66633739-GCG-TGA c.1102_1104delinsTCA p.Arg368Ser Nonsense 11/23 - 1
11-66633743-AT-TG c.1099_1100delinsCA p.Ile367His Missense 11/23 - 3
11-66633744-T-A c.1099A>T p.Ile367Phe Missense 11/23 - 1
11-66633746-TT-TG c.1096delinsC p.Asn366His Missense 11/23 - 1
11-66633746-T-C c.1097A>G p.Asn366Ser Missense 11/23 - 1
11-66633753-G-A c.1090C>T p.Gln364* Nonsense 11/23 - 1
11-66633754-CC-AT c.1088_1089delinsAT p.Arg363His Missense 11/23 - 3
11-66633754-CCG-TGT c.1087_1089delinsACA p.Arg363Thr Missense 11/23 - 1
11-66633755-CG-AA c.1087_1088delinsTT p.Arg363Leu Missense 11/23 - 1
11-66633762-C-A c.1081G>T p.Gly361Cys Missense 11/23 - 1
11-66633766-G-A c.1077C>T p.Asp359Asp Synonymous 11/23 - 1
11-66633767-T-G c.1076A>C p.Asp359Ala Missense 11/23 - 2
11-66633768-C-T c.1075G>A p.Asp359Asn Missense 11/23 - 1
11-66633771-G-A c.1072C>T p.Pro358Ser Missense 11/23 - 1
11-66633776-C-A c.1067G>T p.Ser356Ile Missense 11/23 - 1
11-66633781-GC-AG c.1061_1062delinsCT p.Gly354Ala Missense 11/23 - 1
11-66633782-C-G c.1061G>C p.Gly354Ala Missense 11/23 - 2
11-66633783-C-T c.1060G>A p.Gly354Ser Missense 11/23 - 1
11-66633785-T-G c.1058A>C p.Glu353Ala Missense 11/23 - 1
11-66633786-C-G c.1057G>C p.Glu353Gln Missense 11/23 - 1
11-66633791-A-G c.1052T>C p.Val351Ala Missense 11/23 - 1
11-66633810-C-G c.1033G>C p.Val345Leu Missense 11/23 - 1
11-66633821-C-A c.1023-1G>T - IntronicSNV - 10/22 1
11-66634397-C-T c.1023-577G>A - IntronicSNV - 10/22 1
11-66636323-AT-GC c.1015_1016delinsGC p.Ile339Ala Missense 10/23 - 1
11-66636327-C-G c.1012G>C p.Glu338Gln Missense 10/23 - 1
11-66636335-A-C c.1004T>G p.Val335Gly Missense 10/23 - 1
11-66636337-CGT-TGT c.1002delinsA p.Thr334Thr Missense 10/23 - 1
11-66636337-CG-TC c.1001_1002delinsGA p.Thr334Arg Missense 10/23 - 2
11-66636341-T-C c.998A>G p.His333Arg Missense 10/23 - 1
11-66636346-CAC-ATC c.992_993delinsAT p.Val331Asp Missense 10/23 - 1
11-66636346-CAC-TGT c.991_993delinsACA p.Val331Thr Missense 10/23 - 3
11-66636356-CG-GC c.982_983delinsGC p.Arg328Ala Missense 10/23 - 1
11-66636356-C-T c.983G>A p.Arg328His Missense 10/23 - 1
11-66636357-G-A c.982C>T p.Arg328Cys Missense 10/23 - 1
11-66636377-T-A c.962A>T p.Tyr321Phe Missense 10/23 - 1
11-66636380-TG-GC c.958_959delinsGC p.His320Ala Missense 10/23 - 1
11-66636386-CC-TT c.952_953delinsAA p.Gly318Asn Missense 10/23 - 2
11-66636390-G-C c.949C>G p.His317Asp Missense 10/23 - 1
11-66636391-CCT-TGT c.947_948delinsCA p.Arg316Thr Missense 10/23 - 1
11-66636391-CC-AC c.948delinsT p.Arg316Ser Missense 10/23 - 1
11-66636404-AA-GC c.934_935delinsGC p.Phe312Ala Missense 10/23 - 1
11-66636417-C-T c.922G>A p.Gly308Ser Missense 10/23 - 2
11-66636424-CTC-AAC c.914_915delinsTT p.Glu305Val Missense 10/23 - 1
11-66636424-C-G c.915G>C p.Glu305Asp Missense 10/23 - 1
11-66636424-C-A c.915G>T p.Glu305Asp Missense 10/23 - 1
11-66636425-T-G c.914A>C p.Glu305Ala Missense 10/23 - 2
11-66636426-C-G c.913G>C p.Glu305Gln Missense 10/23 - 1
11-66636428-T-C c.911A>G p.Tyr304Cys Missense 10/23 - 1
11-66637772-C-T c.903+1G>A - IntronicSNV - 9/22 1
11-66637775-G-A c.901C>T p.Gln301* Nonsense 9/23 - 1
11-66637775-G-C c.901C>G p.Gln301Glu Missense 9/23 - 1
11-66637776-TT-TG c.899delinsC p.Lys300Thr Missense 9/23 - 1
11-66637779-AGC-TGG c.895_897delinsCCA p.Ala299Pro Missense 9/23 - 1
11-66637783-AG-AA c.892delinsT p.Leu298Phe Missense 9/23 - 5
11-66637786-TT-GC c.889_890delinsGC p.Lys297Ala Missense 9/23 - 2
11-66637788-CAC-ATC c.887_888delinsAT p.Val296Asp Missense 9/23 - 2
11-66637793-A-C c.883T>G p.Ser295Ala Missense 9/23 - 1
11-66637795-T-C c.881A>G p.Asp294Gly Missense 9/23 - 1
11-66637802-T-C c.874A>G p.Thr292Ala Missense 9/23 - 1
11-66637804-AG-GC c.871_872delinsGC p.Leu291Ala Missense 9/23 - 1
11-66637807-CG-GC c.868_869delinsGC p.Arg290Ala Missense 9/23 - 2
11-66637813-CG-GC c.862_863delinsGC p.Arg288Ala Missense 9/23 - 1
11-66637819-T-C c.857A>G p.Gln286Arg Missense 9/23 - 1
11-66637821-C-CC c.855dup p.Gln286Alafs*15 Frameshift 9/23 - 1
11-66637827-CAG-TTT c.847_849delinsAAA p.Leu283Lys Missense 9/23 - 1
11-66637828-A-G c.848T>C p.Leu283Pro Missense 9/23 - 1
11-66637831-TG-GC c.844_845delinsGC p.His282Ala Missense 9/23 - 1
11-66637831-TG-TT c.844delinsA p.His282Asn Missense 9/23 - 1
11-66637832-G-T c.844C>A p.His282Asn Missense 9/23 - 1
11-66637832-G-A c.844C>T p.His282Tyr Missense 9/23 - 1
11-66637835-C-T c.841G>A p.Ala281Thr Missense 9/23 - 1
11-66637838-GCGG-G c.841_843del p.Ala281del InFrameDeletion 9/23 - 1
11-66637838-C-T c.838G>A p.Ala280Thr Missense 9/23 - 1
11-66637843-G-A c.833C>T p.Ala278Val Missense 9/23 - 2
11-66637843-GC-TG c.832_833delinsCA p.Ala278His Missense 9/23 - 1
11-66637846-AT-TG c.829_830delinsCA p.Ile277His Missense 9/23 - 1
11-66637849-T-G c.827A>C p.Glu276Ala Missense 9/23 - 2
11-66637851-GAC-TGG c.823_825delinsCCA p.Val275Pro Missense 9/23 - 1
11-66637854-CAC-TTT c.820_822delinsAAA p.Val274Lys Missense 9/23 - 1
11-66637855-A-G c.821T>C p.Val274Ala Missense 9/23 - 1
11-66637855-CACCTTCTGGTGCC-C c.811_823del p.His271Serfs*22 Frameshift 9/23 - 1
11-66637858-T-C c.818A>G p.Lys273Arg Missense 9/23 - 1
11-66637866-CC-AT c.809_810delinsAT p.Arg270His Missense 9/23 - 9
11-66637868-G-A c.808C>T p.Arg270Trp Missense 9/23 - 2
11-66637870-C-T c.806G>A p.Arg269Gln Missense 9/23 - 2
11-66637875-GA-GG c.800delinsC p.Ile267Thr Missense 9/23 - 1
11-66637880-A-AT c.795_796insA p.Ser266Ilefs*35 Frameshift 9/23 - 1
11-66637880-A-C c.796T>G p.Ser266Ala Missense 9/23 - 2
11-66637886-C-T c.790G>A p.Asp264Asn Missense 9/23 - 1
11-66637888-CG-GC c.787_788delinsGC p.Arg263Ala Missense 9/23 - 2
11-66637892-C-T c.784G>A p.Glu262Lys Missense 9/23 - 2
11-66637893-GT-GG c.782delinsC p.Tyr261Ser Missense 9/23 - 1
11-66637895-A-T c.781T>A p.Tyr261Asn Missense 9/23 - 1
11-66637895-A-C c.781T>G p.Tyr261Asp Missense 9/23 - 1
11-66637896-CAG-TTT c.778_780delinsAAA p.Leu260Lys Missense 9/23 - 1
11-66637899-G-T c.777C>A p.His259Gln Missense 9/23 - 1
11-66637899-G-C c.777C>G p.His259Gln Missense 9/23 - 1
11-66637903-AG-GA c.772_773delinsTC p.Leu258Ser Missense 9/23 - 1
11-66637903-AG-GC c.772_773delinsGC p.Leu258Ala Missense 9/23 - 1
11-66637906-AT-TG c.769_770delinsCA p.Ile257His Missense 9/23 - 1
11-66637906-A-C c.770T>G p.Ile257Ser Missense 9/23 - 2
11-66637911-CCC-AGC c.764_765delinsCT p.Gly255Ala Missense 9/23 - 1
11-66637917-CTG-GAC c.757_759delinsGTC p.Gln253Val Missense 9/23 - 1
11-66637923-CC-AC c.753delinsT p.Gly251Gly Missense 9/23 - 1
11-66638247-CAA-GAC c.748_750delinsGTC p.Leu250Val Missense 8/23 - 1
11-66638248-AA-AG c.748delinsC p.Leu250Leu Missense 8/23 - 2
11-66638248-AA-AC c.748delinsG p.Leu250Val Missense 8/23 - 1
11-66638251-A-G c.746T>C p.Ile249Thr Missense 8/23 - 1
11-66638251-AT-TG c.745_746delinsCA p.Ile249His Missense 8/23 - 1
11-66638260-T-G c.737A>C p.Glu246Ala Missense 8/23 - 1
11-66638263-A-T c.734T>A p.Ile245Asn Missense 8/23 - 1
11-66638266-TG-GC c.730_731delinsGC p.His244Ala Missense 8/23 - 1
11-66638267-G-A c.730C>T p.His244Tyr Missense 8/23 - 1
11-66638269-C-A c.728G>T p.Arg243Leu Missense 8/23 - 1
11-66638269-CG-GC c.727_728delinsGC p.Arg243Ala Missense 8/23 - 1
11-66638274-CTT-TGT c.722_723delinsCA p.Lys241Thr Missense 8/23 - 1
11-66638275-TT-GC c.721_722delinsGC p.Lys241Ala Missense 8/23 - 2
11-66638276-T-C c.721A>G p.Lys241Glu Missense 8/23 - 1
11-66638281-AT-GG c.715_716delinsCC p.Ile239Pro Missense 8/23 - 1
11-66638282-T-C c.715A>G p.Ile239Val Missense 8/23 - 1
11-66638284-AA-GC c.712_713delinsGC p.Phe238Ala Missense 8/23 - 1
11-66638285-A-G c.712T>C p.Phe238Leu Missense 8/23 - 2
11-66638283-G-T c.714C>A p.Phe238Leu Missense 8/23 - 2
11-66638283-G-C c.714C>G p.Phe238Leu Missense 8/23 - 2
11-66638287-TT-GC c.709_710delinsGC p.Lys237Ala Missense 8/23 - 1
11-66638289-CTC-TGT c.706_708delinsACA p.Glu236Thr Missense 8/23 - 1
11-66638293-A-G c.704T>C p.Val235Ala Missense 8/23 - 1
11-66638296-A-C c.701T>G p.Phe234Cys Missense 8/23 - 4
11-66638296-A-T c.701T>A p.Phe234Tyr Missense 8/23 - 1
11-66638299-AG-GG c.698delinsC p.Leu233Pro Missense 8/23 - 1
11-66638303-C-A c.694G>T p.Ala232Ser Missense 8/23 - 1
11-66638305-C-G c.692G>C p.Gly231Ala Missense 8/23 - 1
11-66638308-T-C c.689A>G p.Asn230Ser Missense 8/23 - 1
11-66638317-GC-TA c.679_680delinsTA p.Ala227Tyr Missense 8/23 - 1
11-66638317-G-T c.680C>A p.Ala227Asp Missense 8/23 - 1
11-66638317-GC-CG c.679_680delinsCG p.Ala227Arg Missense 8/23 - 1
11-66638318-C-G c.679G>C p.Ala227Pro Missense 8/23 - 1
11-66638319-G-A c.678C>T p.Ala226Ala Synonymous 8/23 - 1
11-66638320-G-A c.677C>T p.Ala226Val Missense 8/23 - 3
11-66638323-A-C c.674T>G p.Leu225Arg Missense 8/23 - 1
11-66638326-G-A c.671C>T p.Ala224Val Missense 8/23 - 1
11-66638329-T-G c.668A>C p.Glu223Ala Missense 8/23 - 1
11-66638331-TGA-ATG c.664_666delinsCAT p.Ser222His Missense 8/23 - 1
11-66638333-A-C c.664T>G p.Ser222Ala Missense 8/23 - 1
11-66638335-TA-GG c.661_662delinsCC p.Tyr221Pro Missense 8/23 - 4
11-66638335-T-A c.662A>T p.Tyr221Phe Missense 8/23 - 1
11-66638341-CG-GA c.655_656delinsTC p.Arg219Ser Missense 8/23 - 2
11-66638344-GT-TG c.652_653delinsCA p.Thr218His Missense 8/23 - 1
11-66638344-G-A c.653C>T p.Thr218Ile Missense 8/23 - 1
11-66638353-T-G c.644A>C p.Glu215Ala Missense 8/23 - 1
11-66638356-T-C c.641A>G p.Glu214Gly Missense 8/23 - 1
11-66638356-T-G c.641A>C p.Glu214Ala Missense 8/23 - 1
11-66638357-C-T c.640G>A p.Glu214Lys Missense 8/23 - 1
11-66638358-C-T c.639G>A p.Leu213Leu Synonymous 8/23 - 2
11-66638359-AG-GC c.637_638delinsGC p.Leu213Ala Missense 8/23 - 2
11-66638361-C-T c.636G>A p.Glu212Glu Synonymous 8/23 - 1
11-66638362-T-G c.635A>C p.Glu212Ala Missense 8/23 - 1
11-66638525-C-G c.631G>C p.Glu211Gln Missense 7/23 - 1
11-66638527-T-A c.629A>T p.Tyr210Phe Missense 7/23 - 1
11-66638529-G-T c.627C>A p.Ser209Arg Missense 7/23 - 1
11-66638529-G-C c.627C>G p.Ser209Arg Missense 7/23 - 1
11-66638531-T-G c.625A>C p.Ser209Arg Missense 7/23 - 1
11-66638536-A-C c.620T>G p.Val207Gly Missense 7/23 - 1
11-66638536-A-G c.620T>C p.Val207Ala Missense 7/23 - 2
11-66638538-CA-AC c.617_618delinsGT p.Val206Gly Missense 7/23 - 1
11-66638539-A-G c.617T>C p.Val206Ala Missense 7/23 - 1
11-66638539-AC-AA c.616delinsT p.Val206Leu Missense 7/23 - 1
11-66638541-C-G c.615G>C p.Arg205Ser Missense 7/23 - 1
11-66638549-C-CC c.608dup p.Met204Hisfs*97 Frameshift 7/23 - 1
11-66638552-G-T c.604C>A p.Arg202Ser Missense 7/23 - 1
11-66638557-C-T c.599G>A p.Gly200Glu Missense 7/23 - 1
11-66638562-CC-AC c.594delinsT p.Gly198Gly Missense 7/23 - 1
11-66638563-C-A c.593G>T p.Gly198Val Missense 7/23 - 1
11-66638566-T-A c.590A>T p.Tyr197Phe Missense 7/23 - 1
11-66638569-G-C c.587C>G p.Ala196Gly Missense 7/23 - 1
11-66638572-G-A c.584C>T p.Ala195Val Missense 7/23 - 2
11-66638572-G-C c.584C>G p.Ala195Gly Missense 7/23 - 1
11-66638575-T-G c.581A>C p.Lys194Thr Missense 7/23 - 1
11-66638575-TT-GC c.580_581delinsGC p.Lys194Ala Missense 7/23 - 1
11-66638584-GATG-G c.574_576del p.Ile192del InFrameDeletion 7/23 - 1
11-66638586-GGG-TAA c.568_570delinsTTA p.Pro190Leu Nonsense 7/23 - 1
11-66638588-G-C c.568C>G p.Pro190Ala Missense 7/23 - 2
11-66638593-C-G c.563G>C p.Gly188Ala Missense 7/23 - 2
11-66638593-C-A c.563G>T p.Gly188Val Missense 7/23 - 1
11-66638594-C-G c.562G>C p.Gly188Arg Missense 7/23 - 1
11-66638599-G-A c.557C>T p.Thr186Ile Missense 7/23 - 1
11-66638600-T-C c.556A>G p.Thr186Ala Missense 7/23 - 3
11-66638601-GTT-CAA c.553_555delinsTTG p.Asn185Leu Missense 7/23 - 1
11-66638603-T-A c.553A>T p.Asn185Tyr Missense 7/23 - 1
11-66638617-G-A c.539C>T p.Ala180Val Missense 7/23 - 1
11-66638618-C-T c.538G>A p.Ala180Thr Missense 7/23 - 1
11-66638618-C-G c.538G>C p.Ala180Pro Missense 7/23 - 2
11-66638619-C-G c.537G>C p.Glu179Asp Missense 7/23 - 1
11-66638619-C-A c.537G>T p.Glu179Asp Missense 7/23 - 1
11-66638620-T-C c.536A>G p.Glu179Gly Missense 7/23 - 1
11-66638631-CGT-GAC c.523_525delinsGTC p.Thr175Val Missense 7/23 - 2
11-66638631-CG-AC c.524_525delinsGT p.Thr175Ser Missense 7/23 - 2
11-66638632-GT-CA c.523_524delinsTG p.Thr175Trp Missense 7/23 - 1
11-66638632-GT-GA c.523delinsT p.Thr175Ser Missense 7/23 - 2
11-66638632-G-A c.524C>T p.Thr175Met Missense 7/23 - 2
11-66638633-T-A c.523A>T p.Thr175Ser Missense 7/23 - 1
11-66638633-T-C c.523A>G p.Thr175Ala Missense 7/23 - 1
11-66638635-AT-GC c.520_521delinsGC p.Ile174Ala Missense 7/23 - 2
11-66638635-A-G c.521T>C p.Ile174Thr Missense 7/23 - 1
11-66638641-GC-TT c.514_515delinsAA p.Ala172Asn Missense 7/23 - 1
11-66638644-TC-TG c.511delinsC p.Asp171His Missense 7/23 - 1
11-66638644-T-A c.512A>T p.Asp171Val Missense 7/23 - 1
11-66638650-C-G c.506G>C p.Gly169Ala Missense 7/23 - 1
11-66638651-C-A c.505G>T p.Gly169Cys Missense 7/23 - 1
11-66638652-AG-AA c.503delinsT p.Pro168Leu Missense 7/23 - 1
11-66638653-GG-GT c.502delinsA p.Pro168Thr Missense 7/23 - 1
11-66638653-G-A c.503C>T p.Pro168Leu Missense 7/23 - 1
11-66638654-G-C c.502C>G p.Pro168Ala Missense 7/23 - 1
11-66638660-C-A c.496G>T p.Val166Phe Missense 7/23 - 1
11-66638660-C-T c.496G>A p.Val166Ile Missense 7/23 - 1
11-66638662-G-C c.494C>G p.Pro165Arg Missense 7/23 - 1
11-66638668-C-G c.488G>C p.Gly163Ala Missense 7/23 - 1
11-66638786-C-T c.487G>A p.Gly163Ser Missense 6/23 - 1
11-66638788-G-A c.485C>T p.Ala162Val Missense 6/23 - 1
11-66638792-C-T c.481G>A p.Ala161Thr Missense 6/23 - 3
11-66638796-GG-AG c.477delinsT p.Ala159Ala Missense 6/23 - 1
11-66638797-GC-TG c.475_476delinsCA p.Ala159His Missense 6/23 - 1
11-66638805-CCCG-C c.466_468del p.Arg156del InFrameDeletion 6/23 - 1
11-66638806-CG-AA c.466_467delinsTT p.Arg156Leu Missense 6/23 - 1
11-66638806-CG-GC c.466_467delinsGC p.Arg156Ala Missense 6/23 - 2
11-66638806-C-T c.467G>A p.Arg156Gln Missense 6/23 - 1
11-66638812-T-G c.461A>C p.Glu154Ala Missense 6/23 - 2
11-66638814-CAC-CAT c.457delinsA p.Val153Met Missense 6/23 - 1
11-66638815-A-G c.458T>C p.Val153Ala Missense 6/23 - 1
11-66638816-C-T c.457G>A p.Val153Met Missense 6/23 - 1
11-66638818-TT-GG c.454_455delinsCC p.Lys152Pro Missense 6/23 - 2
11-66638821-T-G c.452A>C p.Asp151Ala Missense 6/23 - 1
11-66638821-TC-AG c.451_452delinsCT p.Asp151Leu Missense 6/23 - 1
11-66638821-T-C c.452A>G p.Asp151Gly Missense 6/23 - 1
11-66638823-TCC-TTT c.448_449delinsAA p.Gly150Lys Missense 6/23 - 8
11-66638824-C-T c.449G>A p.Gly150Glu Missense 6/23 - 1
11-66638825-C-T c.448G>A p.Gly150Arg Missense 6/23 - 1
11-66638830-TT-GC c.442_443delinsGC p.Lys148Ala Missense 6/23 - 1
11-66638831-T-C c.442A>G p.Lys148Glu Missense 6/23 - 2
11-66638832-GCG-TGG c.440_441delinsCA p.Arg147Pro Missense 6/23 - 7
11-66638833-C-G c.440G>C p.Arg147Pro Missense 6/23 - 2
11-66638838-CAC-ATC c.434_435delinsAT p.Val145Asp Missense 6/23 - 1
11-66638838-C-T c.435G>A p.Val145Val Synonymous 6/23 - 1
11-66638838-CA-AC c.434_435delinsGT p.Val145Gly Missense 6/23 - 1
11-66638839-A-G c.434T>C p.Val145Ala Missense 6/23 - 2
11-66638845-GG-TA c.427_428delinsTA p.Pro143* Nonsense 6/23 - 1
11-66638847-G-C c.426C>G p.Ser142Arg Missense 6/23 - 1
11-66638848-C-G c.425G>C p.Ser142Thr Missense 6/23 - 1
11-66638848-CT-GC c.424_425delinsGC p.Ser142Ala Missense 6/23 - 8
11-66638848-CT-TT c.425delinsA p.Ser142Asn Missense 6/23 - 1
11-66638849-T-A c.424A>T p.Ser142Cys Missense 6/23 - 3
11-66638853-CCC-AGC c.419_420delinsCT p.Gly140Ala Missense 6/23 - 3
11-66638854-C-G c.419G>C p.Gly140Ala Missense 6/23 - 2
11-66638862-CC-AT c.410_411delinsAT p.Arg137His Missense 6/23 - 1
11-66638863-CG-AC c.409_410delinsGT p.Arg137Val Missense 6/23 - 1
11-66638863-CG-GC c.409_410delinsGC p.Arg137Ala Missense 6/23 - 2
11-66638866-AC-TG c.406_407delinsCA p.Val136His Missense 6/23 - 1
11-66638868-CCC-CAT c.403_404delinsAT p.Gly135Met Missense 6/23 - 1
11-66638868-CCC-TGT c.403_405delinsACA p.Gly135Thr Missense 6/23 - 1
11-66638869-C-G c.404G>C p.Gly135Ala Missense 6/23 - 1
11-66638869-C-T c.404G>A p.Gly135Glu Missense 6/23 - 2
11-66638873-C-T c.400G>A p.Ala134Thr Missense 6/23 - 1
11-66638876-C-T c.397G>A p.Asp133Asn Missense 6/23 - 1
11-66638879-G-A c.394C>T p.Gln132* Nonsense 6/23 - 1
11-66638881-CA-GC c.391_392delinsGC p.Cys131Ala Missense 6/23 - 2
11-66638884-G-A c.389C>T p.Ala130Val Missense 6/23 - 1
11-66638884-GC-TG c.388_389delinsCA p.Ala130His Missense 6/23 - 1
11-66638884-GC-TT c.388_389delinsAA p.Ala130Asn Missense 6/23 - 1
11-66638885-C-G c.388G>C p.Ala130Pro Missense 6/23 - 1
11-66638891-C-T c.382G>A p.Ala128Thr Missense 6/23 - 2
11-66638892-GA-GG c.380delinsC p.Phe127Ser Missense 6/23 - 1
11-66638900-C-T c.373G>A p.Ala125Thr Missense 6/23 - 1
11-66638902-CG-GC c.370_371delinsGC p.Arg124Ala Missense 6/23 - 1
11-66638903-G-A c.370C>T p.Arg124* Nonsense 6/23 - 1
11-66638905-TC-AC c.368delinsT p.Glu123Val Missense 6/23 - 14
11-66638905-T-G c.368A>C p.Glu123Ala Missense 6/23 - 6
11-66638908-G-T c.365C>A p.Ser122Tyr Missense 6/23 - 1
11-66638908-G-C c.365C>G p.Ser122Cys Missense 6/23 - 2
11-66638911-A-T c.362T>A p.Leu121His Missense 6/23 - 1
11-66638911-A-G c.362T>C p.Leu121Pro Missense 6/23 - 1
11-66638913-GAA-AAG c.358_360delinsCTT p.Phe120Leu Missense 6/23 - 1
11-66638913-G-T c.360C>A p.Phe120Leu Missense 6/23 - 1
11-66638913-G-C c.360C>G p.Phe120Leu Missense 6/23 - 1
11-66638915-A-G c.358T>C p.Phe120Leu Missense 6/23 - 1
11-66638916-CCC-AGC c.356_357delinsCT p.Gly119Ala Missense 6/23 - 3
11-66638920-T-C c.353A>G p.Tyr118Cys Missense 6/23 - 1
11-66638921-A-G c.352T>C p.Tyr118His Missense 6/23 - 1
11-66638923-C-G c.350G>C p.Gly117Ala Missense 6/23 - 1
11-66638923-C-T c.350G>A p.Gly117Asp Missense 6/23 - 2
11-66638923-GCCAG-G c.349_352del p.Gly117Thrfs*87 Frameshift 6/23 - 1
11-66638932-A-G c.341T>C p.Val114Ala Missense 6/23 - 1
11-66638933-C-T c.340G>A p.Val114Met Missense 6/23 - 1
11-66638934-TGC-TGT c.337delinsA p.Ala113Thr Missense 6/23 - 1
11-66638935-GC-AT c.337_338delinsAT p.Ala113Ile Missense 6/23 - 1
11-66638937-ATC-AAG c.334_335delinsCT p.Asp112Leu Missense 6/23 - 1
11-66638938-T-G c.335A>C p.Asp112Ala Missense 6/23 - 1
11-66638939-C-T c.334G>A p.Asp112Asn Missense 6/23 - 1
11-66638940-TA-AC c.332_333delinsGT p.Val111Gly Missense 6/23 - 1
11-66638944-T-C c.329A>G p.Asn110Ser Missense 6/23 - 1
11-66638944-TT-GC c.328_329delinsGC p.Asn110Ala Missense 6/23 - 3
11-66638949-CTC-TGT c.322_324delinsACA p.Glu108Thr Missense 6/23 - 1
11-66638950-T-G c.323A>C p.Glu108Ala Missense 6/23 - 2
11-66638951-C-G c.322G>C p.Glu108Gln Missense 6/23 - 1
11-66638951-C-T c.322G>A p.Glu108Lys Missense 6/23 - 1
11-66639157-C-A c.321+1G>T - IntronicSNV - 5/22 1
11-66639158-C-T c.321G>A p.Lys107Lys Synonymous 5/23 - 1
11-66639158-CCTT-C c.319_321del p.Lys107del InFrameDeletion 5/23 - 2
11-66639159-T-G c.320A>C p.Lys107Thr Missense 5/23 - 1
11-66639159-TT-GC c.319_320delinsGC p.Lys107Ala Missense 5/23 - 2
11-66639162-GC-TG c.316_317delinsCA p.Ala106His Missense 5/23 - 1
11-66639162-G-A c.317C>T p.Ala106Val Missense 5/23 - 2
11-66639164-C-A c.315G>T p.Val105Val Synonymous 5/23 - 1
11-66639164-C-G c.315G>C p.Val105Val Synonymous 5/23 - 1
11-66639164-CAC-TGT c.313_315delinsACA p.Val105Thr Missense 5/23 - 2
11-66639164-C-T c.315G>A p.Val105Val Synonymous 5/23 - 1
11-66639165-A-C c.314T>G p.Val105Gly Missense 5/23 - 1
11-66639167-CTT-TGT c.311_312delinsCA p.Lys104Thr Missense 5/23 - 1
11-66639170-GAT-TGG c.307_309delinsCCA p.Ile103Pro Missense 5/23 - 1
11-66639171-AT-TG c.307_308delinsCA p.Ile103His Missense 5/23 - 3
11-66639176-G-C c.303C>G p.Asp101Glu Missense 5/23 - 2
11-66639176-G-T c.303C>A p.Asp101Glu Missense 5/23 - 2
11-66639177-T-C c.302A>G p.Asp101Gly Missense 5/23 - 2
11-66639177-T-G c.302A>C p.Asp101Ala Missense 5/23 - 1
11-66639177-TC-CG c.301_302delinsCG p.Asp101Arg Missense 5/23 - 1
11-66639178-C-T c.301G>A p.Asp101Asn Missense 5/23 - 3
11-66639180-GG-GT c.298delinsA p.Pro100Thr Missense 5/23 - 1
11-66639181-G-A c.298C>T p.Pro100Ser Missense 5/23 - 2
11-66639183-A-G c.296T>C p.Ile99Thr Missense 5/23 - 1
11-66639186-TG-GC c.292_293delinsGC p.His98Ala Missense 5/23 - 1
11-66639187-G-A c.292C>T p.His98Tyr Missense 5/23 - 1
11-66639189-AG-GC c.289_290delinsGC p.Leu97Ala Missense 5/23 - 1
11-66639192-T-C c.287A>G p.Tyr96Cys Missense 5/23 - 1
11-66639192-TA-GC c.286_287delinsGC p.Tyr96Ala Missense 5/23 - 1
11-66639192-T-A c.287A>T p.Tyr96Phe Missense 5/23 - 1
11-66639194-G-C c.285C>G p.Ala95Ala Synonymous 5/23 - 2
11-66639194-G-T c.285C>A p.Ala95Ala Synonymous 5/23 - 2
11-66639194-G-A c.285C>T p.Ala95Ala Synonymous 5/23 - 2
11-66639195-GC-TG c.283_284delinsCA p.Ala95His Missense 5/23 - 2
11-66639195-G-A c.284C>T p.Ala95Val Missense 5/23 - 1
11-66639195-G-T c.284C>A p.Ala95Asp Missense 5/23 - 2
11-66639199-G-A c.280C>T p.Gln94* Nonsense 5/23 - 2
11-66639199-G-T c.280C>A p.Gln94Lys Missense 5/23 - 1
11-66639200-CAC-TGT c.277_279delinsACA p.Val93Thr Missense 5/23 - 1
11-66639201-A-G c.278T>C p.Val93Ala Missense 5/23 - 1
11-66639202-ACGGGGGCCA-A c.271_279del p.Ala91_Val93del InFrameDeletion 5/23 - 1
11-66639202-ACGGGGGCCAGGCCGCGGCCGA-A c.258_278del p.Ile86_Val93delinsMet MultiAAMissense 5/23 - 1
11-66639207-G-A c.272C>T p.Ala91Val Missense 5/23 - 1
11-66639207-GC-TT c.271_272delinsAA p.Ala91Asn Missense 5/23 - 1
11-66639209-CAG-TGT c.268_270delinsACA p.Leu90Thr Missense 5/23 - 1
11-66639210-AG-AA c.268delinsT p.Leu90Leu Missense 5/23 - 1
11-66639211-G-T c.268C>A p.Leu90Met Missense 5/23 - 3
11-66639213-C-T c.266G>A p.Gly89Asp Missense 5/23 - 1
11-66639216-CG-GC c.262_263delinsGC p.Arg88Ala Missense 5/23 - 2
11-66639222-AT-TG c.256_257delinsCA p.Ile86His Missense 5/23 - 1
11-66639224-G-T c.255C>A p.Leu85Leu Synonymous 5/23 - 1
11-66639230-GG-AG c.249delinsT p.Ala83Ala Missense 5/23 - 2
11-66639230-GGC-TGG c.247_249delinsCCA p.Ala83Pro Missense 5/23 - 1
11-66639231-G-T c.248C>A p.Ala83Asp Missense 5/23 - 2
11-66639231-GC-TG c.247_248delinsCA p.Ala83His Missense 5/23 - 2
11-66639233-TTC-TGT c.244_245delinsAC p.Glu82Thr Missense 5/23 - 1
11-66639233-T-G c.246A>C p.Glu82Asp Missense 5/23 - 2
11-66639233-T-A c.246A>T p.Glu82Asp Missense 5/23 - 2
11-66639235-C-G c.244G>C p.Glu82Gln Missense 5/23 - 1
11-66639237-TC-TG c.241delinsC p.Asp81His Missense 5/23 - 1
11-66639239-TG-AC c.239_240delinsGT p.Ala80Gly Missense 5/23 - 2
11-66639239-TGC-ATG c.238_240delinsCAT p.Ala80His Missense 5/23 - 1
11-66639239-TGC-TGT c.238delinsA p.Ala80Thr Missense 5/23 - 3
11-66639239-T-G c.240A>C p.Ala80Ala Synonymous 5/23 - 1
11-66639239-T-A c.240A>T p.Ala80Ala Synonymous 5/23 - 1
11-66639239-T-C c.240A>G p.Ala80Ala Synonymous 5/23 - 1
11-66639239-TGC-TTT c.238_239delinsAA p.Ala80Lys Missense 5/23 - 2
11-66639240-G-T c.239C>A p.Ala80Glu Missense 5/23 - 2
11-66639240-G-C c.239C>G p.Ala80Gly Missense 5/23 - 1
11-66639240-G-A c.239C>T p.Ala80Val Missense 5/23 - 1
11-66639242-TTT-TGT c.236delinsC p.Lys79Thr Missense 5/23 - 1
11-66639243-T-C c.236A>G p.Lys79Arg Missense 5/23 - 1
11-66639243-TT-GG c.235_236delinsCC p.Lys79Pro Missense 5/23 - 1
11-66639243-TT-GC c.235_236delinsGC p.Lys79Ala Missense 5/23 - 2
11-66639246-T-C c.233A>G p.Gln78Arg Missense 5/23 - 3
11-66639249-CG-GA c.229_230delinsTC p.Arg77Ser Missense 5/23 - 3
11-66639249-C-T c.230G>A p.Arg77Gln Missense 5/23 - 1
11-66639249-CG-GC c.229_230delinsGC p.Arg77Ala Missense 5/23 - 3
11-66639252-T-C c.227A>G p.His76Arg Missense 5/23 - 1
11-66639255-AT-GC c.223_224delinsGC p.Met75Ala Missense 5/23 - 1
11-66639256-T-TGGTCTC c.222_223insGAGACC p.Gln74_Met75insGluThr InFrameInsertion 5/23 - 1
11-66639258-TG-GC c.220_221delinsGC p.Gln74Ala Missense 5/23 - 1
11-66639260-G-GTCTCGG c.220_221insGAGACC p.Gly73_Gln74insArgAsp InFrameInsertion 5/23 - 1
11-66639262-C-CT c.216_217insA p.Gly73Argfs*10 Frameshift 5/23 - 1
11-66639262-C-G c.217G>C p.Gly73Arg Missense 5/23 - 1
11-66639262-C-T c.217G>A p.Gly73Ser Missense 5/23 - 3
11-66639263-C-A c.216G>T p.Thr72Thr Synonymous 5/23 - 1
11-66639263-C-T c.216G>A p.Thr72Thr Synonymous 5/23 - 1
11-66639263-C-G c.216G>C p.Thr72Thr Synonymous 5/23 - 1
11-66639264-GT-GA c.214delinsT p.Thr72Ser Missense 5/23 - 1
11-66639264-G-C c.215C>G p.Thr72Arg Missense 5/23 - 1
11-66639265-T-C c.214A>G p.Thr72Ala Missense 5/23 - 1
11-66639266-GTC-AAG c.211_213delinsCTT p.Asp71Leu Missense 5/23 - 1
11-66639266-G-T c.213C>A p.Asp71Glu Missense 5/23 - 3
11-66639266-G-C c.213C>G p.Asp71Glu Missense 5/23 - 3
11-66639267-T-G c.212A>C p.Asp71Ala Missense 5/23 - 2
11-66639267-TC-TT c.211delinsA p.Asp71Asn Missense 5/23 - 3
11-66639269-CTG-TGT c.208_210delinsACA p.Gln70Thr Missense 5/23 - 1
11-66639270-T-A c.209A>T p.Gln70Leu Missense 5/23 - 4
11-66639270-TG-AT c.208_209delinsAT p.Gln70Met Missense 5/23 - 1
11-66639271-G-T c.208C>A p.Gln70Lys Missense 5/23 - 1
11-66639272-CTC-TTT c.205_207delinsAAA p.Glu69Lys Missense 5/23 - 1
11-66639272-CTC-TGT c.205_207delinsACA p.Glu69Thr Missense 5/23 - 1
11-66639273-T-G c.206A>C p.Glu69Ala Missense 5/23 - 2
11-66639276-GA-CG c.202_203delinsCG p.Ser68Arg Missense 5/23 - 1
11-66639276-G-C c.203C>G p.Ser68Cys Missense 5/23 - 2
11-66639279-T-A c.200A>T p.Tyr67Phe Missense 5/23 - 1
11-66639281-G-C c.198C>G p.Ile66Met Missense 5/23 - 1
11-66639282-AT-CC c.196_197delinsGG p.Ile66Gly Missense 5/23 - 1
11-66639282-AT-TG c.196_197delinsCA p.Ile66His Missense 5/23 - 1
11-66639284-GG-AG c.195delinsT p.Ala65Ala Missense 5/23 - 2
11-66639284-G-C c.195C>G p.Ala65Ala Synonymous 5/23 - 1
11-66639284-G-A c.195C>T p.Ala65Ala Synonymous 5/23 - 1
11-66639284-G-T c.195C>A p.Ala65Ala Synonymous 5/23 - 1
11-66639285-GC-TG c.193_194delinsCA p.Ala65His Missense 5/23 - 2
11-66639285-GC-TT c.193_194delinsAA p.Ala65Asn Missense 5/23 - 2
11-66639285-G-T c.194C>A p.Ala65Asp Missense 5/23 - 2
11-66639285-G-C c.194C>G p.Ala65Gly Missense 5/23 - 1
11-66639288-A-G c.191T>C p.Val64Ala Missense 5/23 - 1
11-66639289-C-T c.190G>A p.Val64Ile Missense 5/23 - 2
11-66639291-G-A c.188C>T p.Thr63Ile Missense 5/23 - 1
11-66639292-T-C c.187A>G p.Thr63Ala Missense 5/23 - 2
11-66639295-G-A c.184C>T p.Arg62Cys Missense 5/23 - 1
11-66639296-GA-GG c.182delinsC p.Ile61Thr Missense 5/23 - 1
11-66639297-AT-TG c.181_182delinsCA p.Ile61His Missense 5/23 - 1
11-66639300-C-G c.179G>C p.Gly60Ala Missense 5/23 - 4
11-66639301-C-G c.178G>C p.Gly60Arg Missense 5/23 - 1
11-66639301-C-A c.178G>T p.Gly60Cys Missense 5/23 - 1
11-66639302-CAG-TGT c.175_177delinsACA p.Leu59Thr Missense 5/23 - 1
11-66639304-G-T c.175C>A p.Leu59Met Missense 5/23 - 1
11-66639306-T-G c.173A>C p.Glu58Ala Missense 5/23 - 1
11-66639309-G-C c.170C>G p.Thr57Arg Missense 5/23 - 1
11-66639310-T-A c.169A>T p.Thr57Ser Missense 5/23 - 1
11-66639311-G-A c.168C>T p.Cys56Cys Synonymous 5/23 - 1
11-66639312-C-A c.167G>T p.Cys56Phe Missense 5/23 - 1
11-66639312-C-T c.167G>A p.Cys56Tyr Missense 5/23 - 2
11-66639312-CA-GC c.166_167delinsGC p.Cys56Ala Missense 5/23 - 4
11-66639312-C-G c.167G>C p.Cys56Ser Missense 5/23 - 6
11-66639313-A-T c.166T>A p.Cys56Ser Missense 5/23 - 6
11-66639314-G-C c.165C>G p.Ala55Ala Synonymous 5/23 - 2
11-66639314-G-A c.165C>T p.Ala55Ala Synonymous 5/23 - 2
11-66639314-G-T c.165C>A p.Ala55Ala Synonymous 5/23 - 2
11-66639314-GG-AG c.165delinsT p.Ala55Ala Missense 5/23 - 3
11-66639315-G-C c.164C>G p.Ala55Gly Missense 5/23 - 3
11-66639315-GC-TG c.163_164delinsCA p.Ala55His Missense 5/23 - 3
11-66639315-GC-TT c.163_164delinsAA p.Ala55Asn Missense 5/23 - 1
11-66639315-G-T c.164C>A p.Ala55Asp Missense 5/23 - 7
11-66639316-C-T c.163G>A p.Ala55Thr Missense 5/23 - 2
11-66639317-CCG-TGT c.160_162delinsACA p.Arg54Thr Missense 5/23 - 1
11-66639318-CG-GA c.160_161delinsTC p.Arg54Ser Missense 5/23 - 2
11-66639318-CG-AA c.160_161delinsTT p.Arg54Leu Missense 5/23 - 1
11-66639321-A-G c.158T>C p.Phe53Ser Missense 5/23 - 1
11-66639321-AA-GA c.158delinsC p.Phe53Ser Missense 5/23 - 2
11-66639320-G-C c.159C>G p.Phe53Leu Missense 5/23 - 2
11-66639320-G-T c.159C>A p.Phe53Leu Missense 5/23 - 2
11-66639322-A-G c.157T>C p.Phe53Leu Missense 5/23 - 2
11-66639327-C-T c.152G>A p.Arg51His Missense 5/23 - 1
11-66639329-G-T c.150C>A p.Ile50Ile Synonymous 5/23 - 1
11-66639329-G-A c.150C>T p.Ile50Ile Synonymous 5/23 - 1
11-66639330-AT-GG c.148_149delinsCC p.Ile50Pro Missense 5/23 - 1
11-66639330-AT-TG c.148_149delinsCA p.Ile50His Missense 5/23 - 1
11-66639331-T-C c.148A>G p.Ile50Val Missense 5/23 - 6
11-66639332-G-A c.147C>T p.Ala49Ala Synonymous 5/23 - 1
11-66639332-G-C c.147C>G p.Ala49Ala Synonymous 5/23 - 1
11-66639332-G-T c.147C>A p.Ala49Ala Synonymous 5/23 - 1
11-66639332-GG-AG c.147delinsT p.Ala49Ala Missense 5/23 - 2
11-66639333-GC-TG c.145_146delinsCA p.Ala49His Missense 5/23 - 4
11-66639333-G-T c.146C>A p.Ala49Asp Missense 5/23 - 3
11-66639333-GC-CG c.145_146delinsCG p.Ala49Arg Missense 5/23 - 1
11-66639334-C-A c.145G>T p.Ala49Ser Missense 5/23 - 1
11-66639334-C-T c.145G>A p.Ala49Thr Missense 5/23 - 2
11-66639335-A-C c.144T>G p.Ile48Met Missense 5/23 - 2
11-66639336-A-C c.143T>G p.Ile48Ser Missense 5/23 - 1
11-66639338-C-A c.141G>T p.Glu47Asp Missense 5/23 - 1
11-66639338-C-T c.141G>A p.Glu47Glu Synonymous 5/23 - 1
11-66639338-CTC-TTT c.139_141delinsAAA p.Glu47Lys Missense 5/23 - 1
11-66639338-C-G c.141G>C p.Glu47Asp Missense 5/23 - 1
11-66639339-T-G c.140A>C p.Glu47Ala Missense 5/23 - 2
11-66639340-C-T c.139G>A p.Glu47Lys Missense 5/23 - 1
11-66639341-AC-AG c.137delinsC p.Gly46Ala Missense 5/23 - 2
11-66639342-C-A c.137G>T p.Gly46Val Missense 5/23 - 1
11-66639495-C-G c.136G>C p.Gly46Arg Missense 4/23 - 1
11-66639496-TCT-TGT c.134delinsC p.Arg45Thr Missense 4/23 - 1
11-66639497-CT-CA c.133delinsT p.Arg45* Missense 4/23 - 1
11-66639497-CT-GC c.133_134delinsGC p.Arg45Ala Missense 4/23 - 2
11-66639500-T-A c.131A>T p.Asn44Ile Missense 4/23 - 1
11-66639501-T-TT c.131dup p.Asn44Lysfs*4 Frameshift 4/23 - 1
11-66639501-T-C c.130A>G p.Asn44Asp Missense 4/23 - 1
11-66639502-GG-AG c.129delinsT p.Ala43Ala Missense 4/23 - 2
11-66639502-G-C c.129C>G p.Ala43Ala Synonymous 4/23 - 1
11-66639502-G-A c.129C>T p.Ala43Ala Synonymous 4/23 - 1
11-66639502-G-T c.129C>A p.Ala43Ala Synonymous 4/23 - 1
11-66639504-C-T c.127G>A p.Ala43Thr Missense 4/23 - 1
11-66639508-CA-GC c.122_123delinsGC p.Met41Ser Missense 4/23 - 1
11-66639510-T-G c.121A>C p.Met41Leu Missense 4/23 - 10
11-66639510-T-A c.121A>T p.Met41Leu Missense 4/23 - 10
11-66639512-AC-TG c.118_119delinsCA p.Val40His Missense 4/23 - 1
11-66639513-C-G c.118G>C p.Val40Leu Missense 4/23 - 1
11-66639514-T-A c.117A>T p.Lys39Asn Missense 4/23 - 1
11-66639514-T-G c.117A>C p.Lys39Asn Missense 4/23 - 1
11-66639515-T-C c.116A>G p.Lys39Arg Missense 4/23 - 1
11-66639515-TT-GC c.115_116delinsGC p.Lys39Ala Missense 4/23 - 3
11-66639518-TT-GC c.112_113delinsGC p.Lys38Ala Missense 4/23 - 14
11-66639518-T-C c.113A>G p.Lys38Arg Missense 4/23 - 1
11-66639521-AT-GC c.109_110delinsGC p.Ile37Ala Missense 4/23 - 1
11-66639521-AT-GA c.109_110delinsTC p.Ile37Ser Missense 4/23 - 1
11-66639524-GG-AT c.106_107delinsAT p.Pro36Ile Missense 4/23 - 1
11-66639524-G-A c.107C>T p.Pro36Leu Missense 4/23 - 3
11-66639527-TT-GC c.103_104delinsGC p.Lys35Ala Missense 4/23 - 2
11-66639528-T-C c.103A>G p.Lys35Glu Missense 4/23 - 1
11-66639528-T-G c.103A>C p.Lys35Gln Missense 4/23 - 1
11-66639532-CTC-TGT c.97_99delinsACA p.Glu33Thr Missense 4/23 - 2
11-66639536-AG-GA c.94_95delinsTC p.Leu32Ser Missense 4/23 - 4
11-66639536-AG-GC c.94_95delinsGC p.Leu32Ala Missense 4/23 - 3
11-66639536-A-C c.95T>G p.Leu32Arg Missense 4/23 - 2
11-66639538-GCG-AAG c.92_93delinsTT p.Arg31Leu Missense 4/23 - 1
11-66639539-CG-GC c.91_92delinsGC p.Arg31Ala Missense 4/23 - 1
11-66639541-CCG-GAC c.88_90delinsGTC p.Arg30Val Missense 4/23 - 1
11-66639541-CCG-AGC c.88_90delinsGCT p.Arg30Ala Missense 4/23 - 1
11-66639541-CCG-TGT c.88_90delinsACA p.Arg30Thr Missense 4/23 - 2
11-66639542-CG-GC c.88_89delinsGC p.Arg30Ala Missense 4/23 - 3
11-66639542-CG-AT c.88_89delinsAT p.Arg30Met Missense 4/23 - 1
11-66639546-C-CG c.84_85insC p.Val29Argfs*7 Frameshift 4/23 - 1
11-66639548-T-C c.83A>G p.Asn28Ser Missense 4/23 - 1
11-66639549-T-A c.82A>T p.Asn28Tyr Missense 4/23 - 1
11-66639550-TGG-TGT c.79delinsA p.Pro27Thr Missense 4/23 - 2
11-66639552-G-C c.79C>G p.Pro27Ala Missense 4/23 - 1
11-66639553-GGA-GAG c.76_77delinsCT p.Ser26Leu Missense 4/23 - 2
11-66639554-G-A c.77C>T p.Ser26Phe Missense 4/23 - 1
11-66639554-G-C c.77C>G p.Ser26Cys Missense 4/23 - 1
11-66639555-A-C c.76T>G p.Ser26Ala Missense 4/23 - 6
11-66639556-G-A c.75C>T p.Ala25Ala Synonymous 4/23 - 1
11-66639556-G-T c.75C>A p.Ala25Ala Synonymous 4/23 - 1
11-66639556-G-C c.75C>G p.Ala25Ala Synonymous 4/23 - 1
11-66639556-GGC-TGG c.73_75delinsCCA p.Ala25Pro Missense 4/23 - 1
11-66639557-GC-TT c.73_74delinsAA p.Ala25Asn Missense 4/23 - 1
11-66639557-GC-TG c.73_74delinsCA p.Ala25His Missense 4/23 - 2
11-66639557-G-T c.74C>A p.Ala25Asp Missense 4/23 - 3
11-66639557-G-A c.74C>T p.Ala25Val Missense 4/23 - 2
11-66639557-GC-CT c.73_74delinsAG p.Ala25Ser Missense 4/23 - 1
11-66639558-C-T c.73G>A p.Ala25Thr Missense 4/23 - 3
11-66639558-C-G c.73G>C p.Ala25Pro Missense 4/23 - 1
11-66639559-A-T c.72T>A p.Ala24Ala Synonymous 4/23 - 1
11-66639559-A-C c.72T>G p.Ala24Ala Synonymous 4/23 - 1
11-66639559-A-G c.72T>C p.Ala24Ala Synonymous 4/23 - 1
11-66639560-G-T c.71C>A p.Ala24Asp Missense 4/23 - 1
11-66639560-GC-TT c.70_71delinsAA p.Ala24Asn Missense 4/23 - 2
11-66639560-GC-TG c.70_71delinsCA p.Ala24His Missense 4/23 - 6
11-66639563-GG-GA c.67delinsT p.Pro23Ser Missense 4/23 - 1
11-66639563-G-T c.68C>A p.Pro23His Missense 4/23 - 10
11-66639563-G-A c.68C>T p.Pro23Leu Missense 4/23 - 1
11-66639564-G-C c.67C>G p.Pro23Ala Missense 4/23 - 2
11-66639564-G-A c.67C>T p.Pro23Ser Missense 4/23 - 2
11-66639564-G-T c.67C>A p.Pro23Thr Missense 4/23 - 2
11-66639565-G-T c.66C>A p.Ala22Ala Synonymous 4/23 - 3
11-66639565-G-C c.66C>G p.Ala22Ala Synonymous 4/23 - 3
11-66639565-G-A c.66C>T p.Ala22Ala Synonymous 4/23 - 3
11-66639565-GGC-ATG c.64_66delinsCAT p.Ala22His Missense 4/23 - 1
11-66639565-GGG-G c.68_69del p.Pro23Argfs*12 Frameshift 4/23 - 1
11-66639566-GC-CA c.64_65delinsTG p.Ala22Cys Missense 4/23 - 1
11-66639566-G-T c.65C>A p.Ala22Asp Missense 4/23 - 2
11-66639566-GC-TT c.64_65delinsAA p.Ala22Asn Missense 4/23 - 2
11-66639566-G-A c.65C>T p.Ala22Val Missense 4/23 - 1
11-66639569-GT-GA c.61delinsT p.Thr21Ser Missense 4/23 - 1
11-66639569-GT-CT c.62delinsG p.Thr21Ser Missense 4/23 - 1
11-66639569-G-T c.62C>A p.Thr21Asn Missense 4/23 - 1
11-66639569-G-A c.62C>T p.Thr21Ile Missense 4/23 - 2
11-66639570-T-C c.61A>G p.Thr21Ala Missense 4/23 - 3
11-66639571-GGA-ATG c.58_60delinsCAT p.Ser20His Missense 4/23 - 1
11-66639572-GA-GG c.58delinsC p.Ser20Pro Missense 4/23 - 4
11-66639572-G-C c.59C>G p.Ser20Cys Missense 4/23 - 4
11-66639572-G-T c.59C>A p.Ser20Tyr Missense 4/23 - 1
11-66639572-G-A c.59C>T p.Ser20Phe Missense 4/23 - 2
11-66639573-A-T c.58T>A p.Ser20Thr Missense 4/23 - 1
11-66639573-A-C c.58T>G p.Ser20Ala Missense 4/23 - 8
11-66639574-GG-AG c.57delinsT p.Thr19Thr Missense 4/23 - 1
11-66639574-GG-TG c.57delinsA p.Thr19Thr Missense 4/23 - 1
11-66639576-T-G c.55A>C p.Thr19Pro Missense 4/23 - 1
11-66639576-T-C c.55A>G p.Thr19Ala Missense 4/23 - 1
11-66639577-TCG-AGC c.52_54delinsGCT p.Arg18Ala Missense 4/23 - 7
11-66639578-CG-AA c.52_53delinsTT p.Arg18Leu Missense 4/23 - 1
11-66639578-C-A c.53G>T p.Arg18Leu Missense 4/23 - 1
11-66639581-CG-GC c.49_50delinsGC p.Arg17Ala Missense 4/23 - 1
11-66639583-GAT-GAG c.46delinsC p.Ile16Leu Missense 4/23 - 1
11-66639583-GA-GG c.47delinsC p.Ile16Thr Missense 4/23 - 1
11-66639584-A-C c.47T>G p.Ile16Ser Missense 4/23 - 2
11-66639584-A-G c.47T>C p.Ile16Thr Missense 4/23 - 2
11-66639584-AT-GC c.46_47delinsGC p.Ile16Ala Missense 4/23 - 1
11-66639585-T-A c.46A>T p.Ile16Phe Missense 4/23 - 1
11-66639585-T-G c.46A>C p.Ile16Leu Missense 4/23 - 2
11-66639585-T-TC c.45_46insG p.Ile16Aspfs*20 Frameshift 4/23 - 1
11-66639587-C-G c.44G>C p.Gly15Ala Missense 4/23 - 2
11-66639587-C-T c.44G>A p.Gly15Glu Missense 4/23 - 1
11-66639589-CAG-TTT c.40_42delinsAAA p.Leu14Lys Missense 4/23 - 1
11-66639590-AG-GA c.40_41delinsTC p.Leu14Ser Missense 4/23 - 1
11-66639590-AG-TG c.41delinsA p.Leu14Gln Missense 4/23 - 1
11-66639592-GAG-ATG c.38_39delinsAT p.Leu13His Missense 4/23 - 1
11-66639592-GAG-AAG c.39delinsT p.Leu13Leu Missense 4/23 - 1
11-66639593-AG-GC c.37_38delinsGC p.Leu13Ala Missense 4/23 - 25
11-66639593-A-T c.38T>A p.Leu13His Missense 4/23 - 1
11-66639595-CCT-TGT c.35_36delinsCA p.Arg12Thr Missense 4/23 - 2
11-66639595-C-G c.36G>C p.Arg12Ser Missense 4/23 - 1
11-66639595-C-A c.36G>T p.Arg12Ser Missense 4/23 - 1
11-66639595-CCT-TAT c.35_36delinsTA p.Arg12Ile Missense 4/23 - 1
11-66639596-CT-GA c.34_35delinsTC p.Arg12Ser Missense 4/23 - 1
11-66639596-CT-GC c.34_35delinsGC p.Arg12Ala Missense 4/23 - 1
11-66639596-CT-CA c.34delinsT p.Arg12Trp Missense 4/23 - 1
11-66639596-C-T c.35G>A p.Arg12Lys Missense 4/23 - 1
11-66639596-C-A c.35G>T p.Arg12Met Missense 4/23 - 1
11-66639598-CAG-TGT c.31_33delinsACA p.Leu11Thr Missense 4/23 - 2
11-66639599-AG-GC c.31_32delinsGC p.Leu11Ala Missense 4/23 - 3
11-66639599-A-G c.32T>C p.Leu11Pro Missense 4/23 - 2
11-66639599-AG-TC c.31_32delinsGA p.Leu11Glu Missense 4/23 - 1
11-66639601-GCC-TGA c.28_30delinsTCA p.Gly10Ser Nonsense 4/23 - 1
11-66639601-GCC-ATG c.28_30delinsCAT p.Gly10His Missense 4/23 - 2
11-66639601-GCC-AAG c.28_30delinsCTT p.Gly10Leu Missense 4/23 - 1
11-66639602-CC-CT c.28delinsA p.Gly10Ser Missense 4/23 - 2
11-66639602-C-T c.29G>A p.Gly10Asp Missense 4/23 - 2
11-66639602-CC-TA c.28_29delinsTA p.Gly10Tyr Missense 4/23 - 1
11-66639602-CC-CA c.28delinsT p.Gly10Cys Missense 4/23 - 3
11-66639603-C-A c.28G>T p.Gly10Cys Missense 4/23 - 2
11-66639603-C-G c.28G>C p.Gly10Arg Missense 4/23 - 1
11-66639612-C-T c.19G>A p.Val7Ile Missense 4/23 - 1
11-66639616-TCG-TGG c.14delinsC p.Arg5Pro Missense 4/23 - 1
11-66639619-GGAA-G c.10_12del p.Phe4del InFrameDeletion 4/23 - 1
11-66639627-AGCA-A c.4_6del p.Leu2? InFrameDeletion 4/23 - 1
11-66642396-C-T c.1-2766G>A - IntronicSNV - 3/22 2
11-66649612-A-G c.1-9982T>C - IntronicSNV - 3/22 3
11-66650248-C-T c.1-10618G>A - IntronicSNV - 3/22 1
11-66650248-C-A c.1-10618G>T - IntronicSNV - 3/22 1
11-66662731-G-A c.1-23101C>T - IntronicSNV - 3/22 4
11-66673079-T-C c.1-33449A>G - IntronicSNV - 3/22 1
11-66675990-A-C c.1-36360T>G - IntronicSNV - 3/22 1
11-66675990-A-G c.1-36360T>C - IntronicSNV - 3/22 1
11-66690454-C-T c.-1+29447G>A - intron_variant - 3/22 1
11-66699622-G-A c.-1+20279C>T - intron_variant - 3/22 1
11-66699622-G-C c.-1+20279C>G - intron_variant - 3/22 1