GC GC vitamin D binding protein

Annotation transcript: NM_000583.4

2344 unique variant annotations were identified in 2880 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-72607678-T-G c.*26-91A>C - intron_variant - 12/12 7
4-72608115-C-T c.*26-528G>A - intron_variant - 12/12 21
4-72608364-C-G c.*26-777G>C - intron_variant - 12/12 1
4-72608364-C-T c.*26-777G>A - intron_variant - 12/12 1
4-72608383-T-G c.*26-796A>C - intron_variant - 12/12 264
4-72609094-A-C c.*26-1507T>G - intron_variant - 12/12 1
4-72609398-C-A c.*26-1811G>T - intron_variant - 12/12 62
4-72609398-C-T c.*26-1811G>A - intron_variant - 12/12 62
4-72610208-C-A c.*25+1660G>T - IntronicSNV - 12/12 4
4-72611215-A-G c.*25+653T>C - IntronicSNV - 12/12 2
4-72611690-G-A c.*25+178C>T - IntronicSNV - 12/12 10
4-72611690-G-C c.*25+178C>G - IntronicSNV - 12/12 10
4-72611690-G-T c.*25+178C>A - IntronicSNV - 12/12 10
4-72611699-G-A c.*25+169C>T - IntronicSNV - 12/12 1
4-72611699-G-T c.*25+169C>A - IntronicSNV - 12/12 1
4-72611899-GA-CT c.1418_1419delinsAG p.I473K Missense 12/13 - 1
4-72611900-AT-GC c.1417_1418delinsGC p.I473A Missense 12/13 - 1
4-72611902-ATTCT-A c.1412_1415del p.K471Ifs*24 Frameshift 12/13 - 1
4-72611905-C-T c.1413G>A p.K471= Synonymous 12/13 - 2
4-72611908-TC-T c.1410del p.K471Rfs*25 Frameshift 12/13 - 1
4-72611911-T-G c.1407A>C p.E469D Missense 12/13 - 1
4-72611911-T-A c.1407A>T p.E469D Missense 12/13 - 1
4-72611911-T-C c.1407A>G p.E469= Synonymous 12/13 - 1
4-72611913-C-T c.1405G>A p.E469K Missense 12/13 - 1
4-72611913-C-CA c.1404dup p.E469* Nonsense 12/13 - 1
4-72611915-GC-CA c.1402_1403delinsTG p.A468C Missense 12/13 - 1
4-72611915-G-GC c.1402dup p.A468Gfs*2 Frameshift 12/13 - 1
4-72611918-T-A c.1400A>T p.D467V Missense 12/13 - 1
4-72611918-T-C c.1400A>G p.D467G Missense 12/13 - 1
4-72611918-T-G c.1400A>C p.D467A Missense 12/13 - 2
4-72611921-A-AC c.1396_1397insG p.I466Sfs*2 SpliceAcceptorInsertion 12/13 - 1
4-72612616-G-A c.1396-694C>T - IntronicSNV - 11/12 3
4-72612687-C-A c.1396-765G>T - IntronicSNV - 11/12 5
4-72612687-C-G c.1396-765G>C - IntronicSNV - 11/12 5
4-72612911-T-A c.1396-989A>T - IntronicSNV - 11/12 1
4-72612911-T-C c.1396-989A>G - IntronicSNV - 11/12 1
4-72613036-A-C c.1396-1114T>G - IntronicSNV - 11/12 5
4-72613036-A-G c.1396-1114T>C - IntronicSNV - 11/12 5
4-72613566-G-A c.1396-1644C>T - IntronicSNV - 11/12 5
4-72614140-A-C c.1396-2218T>G - IntronicSNV - 11/12 9
4-72614267-G-C c.1396-2345C>G - IntronicSNV - 11/12 36
4-72615362-A-G c.1395+2873T>C - IntronicSNV - 11/12 7
4-72616327-C-A c.1395+1908G>T - IntronicSNV - 11/12 2
4-72616327-C-T c.1395+1908G>A - IntronicSNV - 11/12 2
4-72616932-G-A c.1395+1303C>T - IntronicSNV - 11/12 12
4-72617557-T-TA c.1395+677dup - IntronicInsertion - 11/12 1
4-72617775-A-G c.1395+460T>C - IntronicSNV - 11/12 8
4-72618233-A-AC c.1395+1dup - SpliceDonorInsertion 11/13 - 1
4-72618235-C-G c.1395G>C p.E465D Missense 11/13 - 1
4-72618235-C-A c.1395G>T p.E465D Missense 11/13 - 1
4-72618236-T-TC c.1393dup p.E465Gfs*3 Frameshift 11/13 - 1
4-72618238-TG-AA c.1391_1392delinsTT p.S464F Missense 11/13 - 5
4-72618238-TG-AC c.1391_1392delinsGT p.S464C Missense 11/13 - 1
4-72618238-TG-AT c.1391_1392delinsAT p.S464Y Missense 11/13 - 2
4-72618238-T-C c.1392A>G p.S464= Synonymous 11/13 - 1
4-72618239-GA-CC c.1390_1391delinsGG p.S464G Missense 11/13 - 1
4-72618240-A-C c.1390T>G p.S464A Missense 11/13 - 2
4-72618240-A-G c.1390T>C p.S464P Missense 11/13 - 1
4-72618240-AATCAC-CAT c.1385_1390delinsATG p.C462_S464delinsYA MultiAAMissense 11/13 - 1
4-72618242-T-G c.1388A>C p.D463A Missense 11/13 - 1
4-72618242-T-TC c.1387dup p.D463Gfs*5 Frameshift 11/13 - 1
4-72618245-AC-A c.1385del p.C462Lfs*9 Frameshift 11/13 - 1
4-72618245-C-T c.1385G>A p.C462Y Missense 11/13 - 1
4-72618246-A-G c.1384T>C p.C462R Missense 11/13 - 1
4-72618247-G-A c.1383C>T p.Y461= Synonymous 11/13 - 1
4-72618248-T-C c.1382A>G p.Y461C Missense 11/13 - 1
4-72618251-A-AG c.1378dup p.L460Pfs*4 Frameshift 11/13 - 1
4-72618252-G-GTCTTTCTAATTGTTACCAAACATCTATTCTTGTCTTTCTACTTAGGACTATTGAATTTTAGCTGGGT c.1377_1378insACCCAGCTAAAATTCAATAGTCCTAAGTAGAAAGACAAGAATAGATGTTTGGTAACAATTAGAAAGA p.L460Tfs*10 Frameshift 11/13 - 1
4-72618252-G-T c.1378C>A p.L460I Missense 11/13 - 1
4-72618253-A-AG c.1376dup p.L460Sfs*4 Frameshift 11/13 - 2
4-72618255-G-T c.1375C>A p.P459T Missense 11/13 - 1
4-72618256-A-AG c.1373dup p.P459Sfs*5 Frameshift 11/13 - 1
4-72618259-T-TG c.1370dup p.P458Tfs*6 Frameshift 11/13 - 1
4-72618260-GA-AT c.1369_1370delinsAT p.S457I Missense 11/13 - 1
4-72618260-TG-T c.1370del p.S457Yfs*14 Frameshift 11/13 - 1
4-72618261-A-AG c.1368dup p.S457Lfs*7 Frameshift 11/13 - 1
4-72618261-A-AGCC c.1368_1369insGGC p.N456_S457insG InFrameInsertion 11/13 - 1
4-72618263-TT-GC c.1366_1367delinsGC p.N456A Missense 11/13 - 1
4-72618263-TT-AG c.1366_1367delinsCT p.N456L Missense 11/13 - 1
4-72618264-T-G c.1366A>C p.N456H Missense 11/13 - 1
4-72618268-GG-TT c.1361_1362delinsAA p.S454* Nonsense 11/13 - 1
4-72618267-T-TG c.1362dup p.I455Hfs*9 Frameshift 11/13 - 1
4-72618267-TG-T c.1362del p.I455* Frameshift 11/13 - 1
4-72618270-A-C c.1360T>G p.S454A Missense 11/13 - 1
4-72618270-A-AT c.1359_1360insA p.S454Ifs*10 Frameshift 11/13 - 1
4-72618272-CA-GT c.1357_1358delinsAC p.C453T Missense 11/13 - 1
4-72618275-CA-GT c.1354_1355delinsAC p.C452T Missense 11/13 - 1
4-72618275-C-A c.1355G>T p.C452F Missense 11/13 - 1
4-72618276-A-T c.1354T>A p.C452S Missense 11/13 - 1
4-72618275-C-G c.1355G>C p.C452S Missense 11/13 - 1
4-72618276-A-AG c.1353dup p.C452Lfs*12 Frameshift 11/13 - 1
4-72618278-T-G c.1352A>C p.N451T Missense 11/13 - 1
4-72618280-G-GTC c.1349_1350insGA p.N451Tfs*6 Frameshift 11/13 - 1
4-72618281-GA-CG c.1348_1349delinsCG p.S450R Missense 11/13 - 1
4-72618281-GA-AG c.1348_1349delinsCT p.S450L Missense 11/13 - 19
4-72618279-T-TG c.1350dup p.N451Qfs*13 Frameshift 11/13 - 1
4-72618281-GA-TC c.1348_1349inv p.S450D Missense 11/13 - 1
4-72618282-A-C c.1348T>G p.S450A Missense 11/13 - 2
4-72618282-AG-A c.1347del p.S450Pfs*6 Frameshift 11/13 - 1
4-72618285-C-T c.1345G>A p.A449T Missense 11/13 - 1
4-72618284-G-GC c.1345dup p.A449Gfs*15 Frameshift 11/13 - 1
4-72618285-C-G c.1345G>C p.A449P Missense 11/13 - 1
4-72618290-T-G c.1340A>C p.D447A Missense 11/13 - 1
4-72618290-T-TC c.1339dup p.D447Gfs*17 Frameshift 11/13 - 1
4-72618292-T-A c.1338A>T p.S446= Synonymous 11/13 - 1
4-72618292-TGA-GTT c.1336_1338delinsAAC p.S446N Missense 11/13 - 1
4-72618291-C-CT c.1338dup p.D447Rfs*17 Frameshift 11/13 - 1
4-72618293-G-A c.1337C>T p.S446L Missense 11/13 - 1
4-72618296-T-C c.1334A>G p.H445R Missense 11/13 - 11
4-72618296-T-A c.1334A>T p.H445L Missense 11/13 - 7
4-72618296-T-G c.1334A>C p.H445P Missense 11/13 - 4
4-72618296-TG-CC c.1333_1334delinsGG p.H445G Missense 11/13 - 1
4-72618297-G-C c.1333C>G p.H445D Missense 11/13 - 1
4-72618297-G-A c.1333C>T p.H445Y Missense 11/13 - 2
4-72618297-G-GC c.1332dup p.H445Afs*19 Frameshift 11/13 - 1
4-72618298-C-G c.1332G>C p.K444N Missense 11/13 - 3
4-72618298-C-A c.1332G>T p.K444N Missense 11/13 - 3
4-72618300-T-G c.1330A>C p.K444Q Missense 11/13 - 1
4-72618300-T-C c.1330A>G p.K444E Missense 11/13 - 2
4-72618298-CT-C c.1331del p.K444Sfs*12 Frameshift 11/13 - 1
4-72618300-T-TG c.1329dup p.K444Qfs*20 Frameshift 11/13 - 1
4-72618302-T-C c.1328A>G p.N443S Missense 11/13 - 1
4-72618305-A-C c.1325T>G p.V442G Missense 11/13 - 1
4-72618305-A-AC c.1324dup p.V442Gfs*2 Frameshift 11/13 - 1
4-72618307-CAG-AAA c.1321_1323delinsTTT p.L441F Missense 11/13 - 1
4-72618307-C-A c.1323G>T p.L441= Synonymous 11/13 - 1
4-72618307-C-T c.1323G>A p.L441= Synonymous 11/13 - 1
4-72618308-CA-C c.1322del p.L441Rfs*15 Frameshift 11/13 - 1
4-72618309-G-GC c.1320dup p.L441Afs*3 Frameshift 11/13 - 1
4-72618315-C-T c.1315G>A p.A439T Missense 11/13 - 1
4-72618315-C-CCTGGTGT c.1314_1315insACACCAG p.A439Tfs*7 Frameshift 11/13 - 1
4-72618316-CAG-ACA c.1312_1314delinsTGT p.L438C Missense 11/13 - 1
4-72618317-A-ACAG c.1312_1313insCTG p.L438delinsPV MultiAAMissense 11/13 - 1
4-72618317-A-G c.1313T>C p.L438P Missense 11/13 - 1
4-72618315-CCAGTTCCGTGGGTGTGGCAT-C c.1295_1314del p.D432Gfs*5 Frameshift 11/13 - 1
4-72618320-T-TC c.1309dup p.E437Gfs*7 Frameshift 11/13 - 1
4-72618323-G-A c.1307C>T p.T436M Missense 11/13 - 360
4-72618323-G-T c.1307C>A p.T436K Missense 11/13 - 389
4-72618324-T-C c.1306A>G p.T436A Missense 11/13 - 2
4-72618324-T-A c.1306A>T p.T436S Missense 11/13 - 1
4-72618324-GT-G c.1306del p.T436Rfs*20 Frameshift 11/13 - 1
4-72618324-T-TG c.1305dup p.T436Hfs*8 Frameshift 11/13 - 1
4-72618327-G-A c.1303C>T p.P435S Missense 11/13 - 1
4-72618328-TG-CA c.1301_1302inv p.T434M Missense 11/13 - 1
4-72618328-T-TG c.1301dup p.P435Tfs*9 Frameshift 11/13 - 1
4-72618332-G-C c.1298C>G p.A433G Missense 11/13 - 1
4-72618330-T-TG c.1299dup p.T434Hfs*10 Frameshift 11/13 - 1
4-72618330-TG-T c.1299del p.T434Hfs*22 Frameshift 11/13 - 1
4-72618332-G-T c.1298C>A p.A433D Missense 11/13 - 1
4-72618333-C-T c.1297G>A p.A433T Missense 11/13 - 2
4-72618333-C-G c.1297G>C p.A433P Missense 11/13 - 1
4-72618334-A-C c.1296T>G p.D432E Missense 11/13 - 442
4-72618334-A-T c.1296T>A p.D432E Missense 11/13 - 435
4-72618335-T-C c.1295A>G p.D432G Missense 11/13 - 2
4-72618335-T-G c.1295A>C p.D432A Missense 11/13 - 1
4-72618335-T-TC c.1294dup p.D432Gfs*12 Frameshift 11/13 - 1
4-72618336-C-T c.1294G>A p.D432N Missense 11/13 - 1
4-72618337-CAGG-C c.1291_1293del p.P431del InFrameDeletion 11/13 - 1
4-72618338-G-A c.1292C>T p.P431L Missense 11/13 - 1
4-72618341-AA-GG c.1288_1289delinsCC p.L430P Missense 11/13 - 1
4-72618346-T-TG c.1283dup p.L430Ifs*3 Frameshift 11/13 - 1
4-72618347-G-A c.1283C>T p.A428V Missense 11/13 - 1
4-72618347-G-C c.1283C>G p.A428G Missense 11/13 - 1
4-72618347-G-GC c.1282dup p.A428Gfs*5 Frameshift 11/13 - 1
4-72618348-C-T c.1282G>A p.A428T Missense 11/13 - 1
4-72618349-T-G c.1281A>C p.K427N Missense 11/13 - 1
4-72618349-T-A c.1281A>T p.K427N Missense 11/13 - 1
4-72618350-T-C c.1280A>G p.K427R Missense 11/13 - 1
4-72618353-A-ATGTC c.1276_1277insGACA p.L426Rfs*8 Frameshift 11/13 - 1
4-72618353-AG-GC c.1276_1277delinsGC p.L426A Missense 11/13 - 1
4-72618354-AG-A c.1276del p.L426* Frameshift 11/13 - 1
4-72618355-TC-AT c.1274_1275delinsAT p.R425H Missense 11/13 - 1
4-72618355-T-TC c.1274dup p.L426Tfs*7 Frameshift 11/13 - 1
4-72618356-C-CT c.1273_1274insA p.R425Qfs*8 Frameshift 11/13 - 1
4-72618359-T-C c.1271A>G p.E424G Missense 11/13 - 2
4-72618359-T-G c.1271A>C p.E424A Missense 11/13 - 1
4-72618359-T-TC c.1270dup p.E424Gfs*9 Frameshift 11/13 - 1
4-72618360-C-T c.1270G>A p.E424K Missense 11/13 - 1
4-72618361-T-TG c.1268dup p.E424Rfs*9 Frameshift 11/13 - 1
4-72618364-C-T c.1266G>A p.L422= Synonymous 11/13 - 1
4-72618366-G-A c.1264C>T p.L422= Synonymous 11/13 - 1
4-72618363-C-CCAGTATGGCAAGACCCT c.1266_1267insAGGGTCTTGCCATACTG p.A423Rfs*10 Frameshift - - 1
4-72618985-G-C c.1263-618C>G - IntronicSNV - 10/12 1
4-72619996-A-C c.1262+132T>G - IntronicSNV - 10/12 1
4-72620128-T-C c.1262A>G p.K421R Missense 10/13 - 1
4-72620135-T-TG c.1254dup p.K419Qfs*14 Frameshift 10/13 - 1
4-72620136-G-A c.1254C>T p.Y418= Synonymous 10/13 - 1
4-72620139-C-A c.1251G>T p.E417D Missense 10/13 - 1
4-72620141-C-T c.1249G>A p.E417K Missense 10/13 - 1
4-72620142-AG-CT c.1247_1248inv p.T416K Missense 10/13 - 1
4-72620142-A-AG c.1247dup p.E417* Nonsense 10/13 - 1
4-72620144-T-C c.1246A>G p.T416A Missense 10/13 - 1
4-72620147-A-G c.1243T>C p.F415L Missense 10/13 - 1
4-72620145-A-T c.1245T>A p.F415L Missense 10/13 - 1
4-72620145-A-C c.1245T>G p.F415L Missense 10/13 - 1
4-72620148-T-TG c.1241dup p.F415Ifs*3 Frameshift 10/13 - 1
4-72620149-GT-CC c.1240_1241delinsGG p.T414G Missense 10/13 - 4
4-72620149-G-GCAGTATGATAGCCAGACTTCTTCTGCATGGCAGTTACAGGGCAATCTTTATGAGCCAGAAGAAGCTGTTT c.1240_1241insAAACAGCTTCTTCTGGCTCATAAAGATTGCCCTGTAACTGCCATGCAGAAGAAGTCTGGCTATCATACTG p.T414Kfs*8 Frameshift 10/13 - 1
4-72620149-G-T c.1241C>A p.T414K Missense 10/13 - 1
4-72620152-T-C c.1238A>G p.N413S Missense 10/13 - 1
4-72620154-T-C c.1236A>G p.E412= Synonymous 10/13 - 1
4-72620151-ATT-A c.1237_1238del p.N413Yfs*4 Frameshift 10/13 - 1
4-72620155-TC-GA c.1234_1235inv p.E412S Missense 10/13 - 1
4-72620155-T-G c.1235A>C p.E412A Missense 10/13 - 1
4-72620156-C-T c.1234G>A p.E412K Missense 10/13 - 1
4-72620157-T-TG c.1232dup p.E412Rfs*6 Frameshift 10/13 - 1
4-72620164-T-A c.1226A>T p.D409V Missense 10/13 - 13
4-72620164-T-C c.1226A>G p.D409G Missense 10/13 - 6
4-72620165-C-G c.1225G>C p.D409H Missense 10/13 - 19
4-72620165-C-T c.1225G>A p.D409N Missense 10/13 - 1
4-72620166-T-G c.1224A>C p.A408= Synonymous 10/13 - 1
4-72620166-T-C c.1224A>G p.A408= Synonymous 10/13 - 1
4-72620166-T-A c.1224A>T p.A408= Synonymous 10/13 - 1
4-72620166-T-TG c.1223dup p.D409Rfs*9 Frameshift 10/13 - 1
4-72620167-G-A c.1223C>T p.A408V Missense 10/13 - 1
4-72620167-G-GC c.1222dup p.A408Gfs*10 Frameshift 10/13 - 1
4-72620168-C-CG c.1221_1222insC p.A408Rfs*10 Frameshift 10/13 - 1
4-72620171-A-C c.1219T>G p.C407G Missense 10/13 - 1
4-72620173-A-G c.1217T>C p.L406P Missense 10/13 - 2
4-72620180-G-C c.1210C>G p.Q404E Missense 10/13 - 1
4-72620183-C-T c.1207G>A p.G403R Missense 10/13 - 1
4-72620183-C-G c.1207G>C p.G403R Missense 10/13 - 1
4-72620185-TT-GC c.1204_1205delinsGC p.K402A Missense 10/13 - 1
4-72620186-T-C c.1204A>G p.K402E Missense 10/13 - 1
4-72620188-TC-CT c.1201_1202delinsAG p.D401S Missense 10/13 - 1
4-72620189-C-G c.1201G>C p.D401H Missense 10/13 - 3
4-72620189-C-A c.1201G>T p.D401Y Missense 10/13 - 1
4-72620189-TCAATGAAAGAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCA-T c.1165-22_1201del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620192-T-TG c.1197dup p.I400Hfs*2 Frameshift 10/13 - 1
4-72620194-AA-TG c.1195_1196delinsCA p.F399H Missense 10/13 - 1
4-72620195-A-T c.1195T>A p.F399I Missense 10/13 - 1
4-72620195-A-C c.1195T>G p.F399V Missense 10/13 - 1
4-72620196-A-AG c.1193dup p.I400Hfs*2 Frameshift 10/13 - 1
4-72620193-GAAAGAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACA-G c.1165-27_1196del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620198-GAAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAAT-G c.1165-31_1192del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620195-AAGAAGATAGTTCCTTCTTTAGTAG-A c.1171_1194del p.L391_S398del InFrameDeletion 10/13 - 1
4-72620199-AG-TT c.1190_1191delinsAA p.S397* Nonsense 10/13 - 1
4-72620198-AAGATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATT-A c.1165-32_1191del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620201-A-C c.1189T>G p.S397A Missense 10/13 - 1
4-72620202-ATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATT-A c.1165-35_1188del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620202-TA-AT c.1187_1188delinsAT p.L396H Missense 10/13 - 1
4-72620203-A-G c.1187T>C p.L396P Missense 10/13 - 1
4-72620201-ATAGTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATT-A c.1165-35_1188del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620203-A-C c.1187T>G p.L396R Missense 10/13 - 1
4-72620204-G-C c.1186C>G p.L396V Missense 10/13 - 1
4-72620205-GTTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGT-G c.1165-38_1185del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620207-C-CA c.1182_1183insT p.E395* Nonsense 10/13 - 1
4-72620205-TTCCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTC-T c.1165-39_1184del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620207-TCCTTC-T c.1179_1183del p.K394Tfs*6 Frameshift 10/13 - 1
4-72620207-TCCTTCTTTAGTAGAGG-T c.1168_1183del p.P390Nfs*32 Frameshift 10/13 - 1
4-72620208-CCTTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTT-C c.1165-41_1182del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620209-T-TG c.1180_1181insC p.K394Tfs*8 Frameshift 10/13 - 1
4-72620210-T-A c.1180A>T p.K394* Nonsense 10/13 - 1
4-72620210-T-TA c.1179_1180insT p.K394* Nonsense 10/13 - 1
4-72620210-TTCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGA-T c.1165-43_1180del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620208-CT-C c.1181del p.K394Rfs*33 Frameshift 10/13 - 1
4-72620210-T-TC c.1179dup p.K394Efs*8 Frameshift 10/13 - 1
4-72620211-TCTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAA-T c.1165-44_1179del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620212-CTTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAA-C c.1165-45_1178del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620212-T-TCGCTGTGGGCGTTGGGCGAGCGGCCTC c.1177_1178insGAGGCCGCTCGCCCAACGCCCACAGCG p.K393delinsRGRSPNAHSE MultiAAMissense 10/13 - 1
4-72620213-T-C c.1177A>G p.K393E Missense 10/13 - 1
4-72620213-T-TA c.1176_1177insT p.K393* Nonsense 10/13 - 1
4-72620213-TTTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAAC-T c.1165-46_1177del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620211-CT-C c.1178del p.K393Rfs*34 Frameshift 10/13 - 1
4-72620214-TAG-AAA c.1174_1176delinsTTT p.L392F Missense 10/13 - 1
4-72620215-A-G c.1175T>C p.L392P Missense 10/13 - 1
4-72620213-TTAGTAGAGGGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAACC-T c.1165-47_1176del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620215-A-AG c.1174dup p.L392Pfs*10 Frameshift 10/13 - 1
4-72620218-A-AG c.1171dup p.L391Pfs*11 Frameshift 10/13 - 1
4-72620219-AG-A c.1171del p.L391Yfs*2 Frameshift 10/13 - 1
4-72620221-G-A c.1169C>T p.P390L Missense 10/13 - 1
4-72620222-G-A c.1168C>T p.P390S Missense 10/13 - 1
4-72620220-A-AG c.1169dup p.L391Sfs*11 SpliceAcceptorInsertion 10/13 - 1
4-72620220-AG-A c.1169del p.P390Lfs*3 Frameshift 10/13 - 2
4-72620223-GGCCCTGTAAGAAAACAATAATTGCATAACAAAATTATTTGTCTTGAAACCTTGTCCCAT-G c.1165-56_1167del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/13 9/12 1
4-72620224-C-A c.1166G>T p.G389V Missense 10/13 - 2
4-72620224-C-G c.1166G>C p.G389A Missense 10/13 - 1
4-72620224-C-T c.1166G>A p.G389D Missense 10/13 - 2
4-72620224-CC-TT c.1165_1166delinsAA p.G389N Missense 10/13 - 1
4-72620225-C-G c.1165G>C p.G389R Missense 10/13 - 5
4-72620223-G-GC c.1166dup - SpliceAcceptorInsertion - 9/12 1
4-72620695-C-T c.1164G>A p.K388= Synonymous 9/13 - 1
4-72620695-CTT-ACA c.1162_1164delinsTGT p.K388C Missense 9/13 - 1
4-72620696-TT-GC c.1162_1163delinsGC p.K388A Missense 9/13 - 1
4-72620696-T-A c.1163A>T p.K388M Missense 9/13 - 2
4-72620696-CTTAGCATTAAA-C c.1153_1163del p.F385Gfs*13 SpliceDonorDeletion 9/13 - 1
4-72620697-TTAGCATTAAAACAGGTAGTTG-T c.1142_1162del p.S381_K388delins* MultiAAMissense 9/13 - 1
4-72620697-TTAGCATTAAAACAGGTAGTTGAGTCTTCAAC-T c.1132_1162del p.V378Rfs*5 Frameshift 9/13 - 1
4-72620697-T-G c.1162A>C p.K388Q Missense 9/13 - 1
4-72620698-TAGCATTAAAACA-T c.1150_1161del p.C384_A387del InFrameDeletion 9/13 - 1
4-72620694-CCTTAGCATTAAAACAGGTAGTTGAGT-C c.1139_1164del p.D380Gfs*13 Frameshift 9/13 - 1
4-72620698-AGC-TTG c.1159_1161delinsCAA p.A387Q Missense 9/13 - 1
4-72620699-G-A c.1160C>T p.A387V Missense 9/13 - 1
4-72620697-TAGCATTAAA-T c.1153_1161del p.F385_A387del InFrameDeletion 9/13 - 1
4-72620697-TAGCATTAAAACAGGTAGTTGAGTCTTC-T c.1135_1161del p.E379_A387del InFrameDeletion 9/13 - 1
4-72620699-G-T c.1160C>A p.A387D Missense 9/13 - 1
4-72620696-TTAGCATTAAAACAGG-T c.1148_1162del p.T383_A387del InFrameDeletion 9/13 - 1
4-72620700-C-T c.1159G>A p.A387T Missense 9/13 - 1
4-72620699-GCATTAAAACAGGTAGTTGAGT-G c.1139_1159del p.D380_N386del InFrameDeletion 9/13 - 1
4-72620701-CATTAAAA-C c.1152_1158del p.C384Wfs*7 Frameshift 9/13 - 1
4-72620701-CATTAAAACAGGTAGTTGAGTCTTCAACA-C c.1131_1158del p.D377Efs*7 Frameshift 9/13 - 1
4-72620701-A-C c.1158T>G p.N386K Missense 9/13 - 1
4-72620701-A-T c.1158T>A p.N386K Missense 9/13 - 1
4-72620703-T-C c.1156A>G p.N386D Missense 9/13 - 1
4-72620702-TTAAAACAGGTAGTTGAGTCTTCAACATCACAGCA-T c.1123_1156del p.C375Mfs*7 Frameshift 9/13 - 1
4-72620703-TAAA-T c.1153_1155del p.F385del InFrameDeletion 9/13 - 1
4-72620702-TTAAAACAGG-T c.1148_1156del p.T383_F385del InFrameDeletion 9/13 - 1
4-72620705-AAAACAGGTAG-A c.1145_1154del p.T382Ifs*8 Frameshift 9/13 - 1
4-72620706-A-AT c.1152_1153insA p.F385Ifs*2 Frameshift 9/13 - 1
4-72620706-A-ATG c.1152_1153insCA p.F385Hfs*9 Frameshift 9/13 - 1
4-72620706-A-ACT c.1152_1153insAG p.F385Sfs*9 Frameshift 9/13 - 1
4-72620706-A-ACCCT c.1152_1153insAGGG p.F385Rfs*3 Frameshift 9/13 - 1
4-72620706-A-AG c.1152_1153insC p.F385Lfs*2 Frameshift 9/13 - 1
4-72620704-AAAACAGGT-A c.1147_1154del p.T383* Frameshift 9/13 - 1
4-72620706-AAACAGGTAGT-A c.1144_1153del p.T382Lfs*8 Frameshift 9/13 - 1
4-72620703-T-TA c.1155dup p.N386* Nonsense 9/13 - 1
4-72620703-TA-T c.1155del p.F385Lfs*8 Frameshift 9/13 - 1
4-72620708-C-T c.1151G>A p.C384Y Missense 9/13 - 1
4-72620708-ACAGGTAGTTGAG-A c.1140_1151del p.S381_C384del InFrameDeletion 9/13 - 1
4-72620706-AACAGGTAGTTGAGTCTTCAACATCACAGC-A c.1124_1152del p.C375Ffs*2 Frameshift 9/13 - 1
4-72620709-A-C c.1150T>G p.C384G Missense 9/13 - 1
4-72620709-A-AT c.1149_1150insA p.C384Mfs*3 Frameshift 9/13 - 1
4-72620709-AG-A c.1149del p.C384Vfs*9 Frameshift 9/13 - 1
4-72620712-T-TG c.1146_1147insC p.T383Hfs*4 Frameshift 9/13 - 1
4-72620714-AG-A c.1145del p.T382Ifs*11 Frameshift 9/13 - 1
4-72620714-GT-CA c.1144_1145delinsTG p.T382C Missense 9/13 - 1
4-72620714-GT-G c.1144del p.T382Lfs*11 Frameshift 9/13 - 1
4-72620716-T-C c.1143A>G p.S381= Synonymous 9/13 - 1
4-72620716-TG-AC c.1142_1143delinsGT p.S381C Missense 9/13 - 1
4-72620717-TG-T c.1142del p.S381* Frameshift 9/13 - 1
4-72620718-A-C c.1141T>G p.S381A Missense 9/13 - 1
4-72620719-G-A c.1140C>T p.D380= Synonymous 9/13 - 1
4-72620719-G-C c.1140C>G p.D380E Missense 9/13 - 1
4-72620719-G-T c.1140C>A p.D380E Missense 9/13 - 1
4-72620719-G-GT c.1139dup p.D380Efs*7 Frameshift 9/13 - 2
4-72620720-T-G c.1139A>C p.D380A Missense 9/13 - 1
4-72620720-TC-CA c.1138_1139delinsTG p.D380C Missense 9/13 - 1
4-72620718-AGTCTTCAACATCACAGCATTCACCAAGGCTTTTTAGGGTTG-A c.1100_1140del p.P367Lfs*6 Frameshift 9/13 - 1
4-72620721-C-CA c.1137_1138insT p.D380* Nonsense 9/13 - 1
4-72620721-C-T c.1138G>A p.D380N Missense 9/13 - 1
4-72620721-C-A c.1138G>T p.D380Y Missense 9/13 - 1
4-72620727-C-A c.1132G>T p.V378F Missense 9/13 - 1
4-72620729-T-G c.1130A>C p.D377A Missense 9/13 - 1
4-72620729-TC-CA c.1129_1130delinsTG p.D377C Missense 9/13 - 2
4-72620728-A-AT c.1130dup p.D377Efs*3 Frameshift 9/13 - 1
4-72620730-C-A c.1129G>T p.D377Y Missense 9/13 - 12
4-72620730-C-T c.1129G>A p.D377N Missense 9/13 - 2
4-72620730-C-G c.1129G>C p.D377H Missense 9/13 - 1
4-72620729-T-TC c.1129dup p.D377Gfs*3 Frameshift 9/13 - 1
4-72620730-CA-G c.1128_1129delinsC p.D377Mfs*16 Frameshift 9/13 - 1
4-72620732-C-T c.1127G>A p.C376Y Missense 9/13 - 2
4-72620732-CA-GT c.1126_1127delinsAC p.C376T Missense 9/13 - 1
4-72620735-C-CCTTAGCAGGACCAAGAG c.1123_1124insCTCTTGGTCCTGCTAAG p.C375Sfs*24 Frameshift 9/13 - 1
4-72620735-C-T c.1124G>A p.C375Y Missense 9/13 - 1
4-72620738-T-TC c.1120dup p.E374Gfs*4 Frameshift 9/13 - 1
4-72620739-C-A c.1120G>T p.E374* Nonsense 9/13 - 1
4-72620739-C-T c.1120G>A p.E374K Missense 9/13 - 1
4-72620741-C-T c.1118G>A p.G373D Missense 9/13 - 1
4-72620741-C-A c.1118G>T p.G373V Missense 9/13 - 1
4-72620742-C-A c.1117G>T p.G373C Missense 9/13 - 1
4-72620743-CAA-C c.1115_1116del p.L372Rfs*2 Frameshift 9/13 - 1
4-72620744-A-G c.1115T>C p.L372P Missense 9/13 - 3
4-72620745-G-T c.1114C>A p.L372I Missense 9/13 - 1
4-72620745-G-A c.1114C>T p.L372F Missense 9/13 - 1
4-72620746-GGCTT-G c.1110_1113del p.K370Nfs*22 Frameshift 9/13 - 1
4-72620746-G-C c.1113C>G p.S371R Missense 9/13 - 1
4-72620746-G-T c.1113C>A p.S371R Missense 9/13 - 1
4-72620748-T-G c.1111A>C p.S371R Missense 9/13 - 1
4-72620746-GCT-CTC c.1111_1113delinsGAG p.S371E Missense 9/13 - 1
4-72620747-CT-AG c.1111_1112inv p.S371L Missense 9/13 - 8
4-72620747-CT-GG c.1111_1112delinsCC p.S371P Missense 9/13 - 3
4-72620748-T-TA c.1110_1111insT p.S371* Nonsense 9/13 - 1
4-72620751-T-TA c.1107_1108insT p.K370* Nonsense 9/13 - 1
4-72620753-A-G c.1106T>C p.L369P Missense 9/13 - 1
4-72620754-G-A c.1105C>T p.L369= Synonymous 9/13 - 1
4-72620755-G-T c.1104C>A p.T368= Synonymous 9/13 - 1
4-72620755-G-C c.1104C>G p.T368= Synonymous 9/13 - 1
4-72620755-G-A c.1104C>T p.T368= Synonymous 9/13 - 1
4-72620753-A-AG c.1105dup p.L369Pfs*6 Frameshift 9/13 - 2
4-72620758-T-TG c.1100dup p.T368Nfs*7 Frameshift 9/13 - 2
4-72620760-G-GC c.1098dup p.P367Afs*8 Frameshift 9/13 - 1
4-72620761-C-CAT c.1097_1098insAT p.P367Cfs*4 Frameshift 9/13 - 1
4-72620763-C-T c.1096G>A p.E366K Missense 9/13 - 1
4-72620763-C-G c.1096G>C p.E366Q Missense 9/13 - 2
4-72620765-A-AG c.1093dup p.L365Pfs*2 Frameshift 9/13 - 1
4-72620766-G-GT c.1092dup p.L365Tfs*2 Frameshift 9/13 - 1
4-72620770-C-T c.1089G>A p.K363= Synonymous 9/13 - 1
4-72620771-TT-GC c.1087_1088delinsGC p.K363A Missense 9/13 - 1
4-72620771-T-TG c.1087_1088insC p.K363Tfs*4 Frameshift 9/13 - 1
4-72620773-ACT-CTC c.1084_1086delinsGAG p.S362E Missense 9/13 - 1
4-72620773-ACT-CCA c.1084_1086delinsTGG p.S362W Missense 9/13 - 1
4-72620773-A-G c.1086T>C p.S362= Synonymous 9/13 - 1
4-72620774-CT-GC c.1084_1085delinsGC p.S362A Missense 9/13 - 3
4-72620774-CT-TC c.1084_1085delinsGA p.S362D Missense 9/13 - 1
4-72620775-T-TG c.1083dup p.S362Qfs*2 Frameshift 9/13 - 1
4-72620777-A-AG c.1081dup p.L361Pfs*3 Frameshift 9/13 - 1
4-72620780-A-T c.1079T>A p.F360Y Missense 9/13 - 1
4-72620780-AA-GC c.1078_1079delinsGC p.F360A Missense 9/13 - 1
4-72620783-A-AC c.1075dup p.V359Gfs*5 Frameshift 9/13 - 1
4-72620784-C-G c.1075G>C p.V359L Missense 9/13 - 2
4-72620784-C-A c.1075G>T p.V359L Missense 9/13 - 2
4-72620784-C-T c.1075G>A p.V359I Missense 9/13 - 1
4-72620785-T-G c.1074A>C p.E358D Missense 9/13 - 2
4-72620785-T-A c.1074A>T p.E358D Missense 9/13 - 1
4-72620786-T-G c.1073A>C p.E358A Missense 9/13 - 1
4-72620787-C-T c.1072G>A p.E358K Missense 9/13 - 3
4-72620786-T-TC c.1072dup p.E358Gfs*6 Frameshift 9/13 - 1
4-72620786-TC-T c.1072del p.E358Kfs*12 Frameshift 9/13 - 1
4-72620788-C-G c.1071G>C p.P357= Synonymous 9/13 - 1
4-72620788-C-T c.1071G>A p.P357= Synonymous 9/13 - 1
4-72620788-C-CG c.1070dup p.E358Gfs*6 Frameshift 9/13 - 1
4-72620792-A-C c.1067T>G p.L356R Missense 9/13 - 1
4-72620793-G-C c.1066C>G p.L356V Missense 9/13 - 1
4-72620795-T-TG c.1063dup p.H355Pfs*9 Frameshift 9/13 - 1
4-72620796-G-A c.1063C>T p.H355Y Missense 9/13 - 2
4-72620798-AGTC-A c.1059_1061del p.R353_T354delinsS MultiAAMissense 9/13 - 1
4-72620798-GT-CA c.1060_1061delinsTG p.T354C Missense 9/13 - 1
4-72620798-G-A c.1061C>T p.T354I Missense 9/13 - 2
4-72620798-GT-CC c.1060_1061delinsGG p.T354G Missense 9/13 - 1
4-72620801-CT-TG c.1057_1058delinsCA p.R353Q Missense 9/13 - 4
4-72620801-CT-GC c.1057_1058delinsGC p.R353A Missense 9/13 - 1
4-72620801-C-T c.1058G>A p.R353K Missense 9/13 - 1
4-72620802-CTTCTGCTT-C c.1050_1057del p.S351Dfs*10 Frameshift 9/13 - 1
4-72620802-T-A c.1057A>T p.R353W Missense 9/13 - 1
4-72620803-TCT-ATG c.1054_1056delinsCAT p.R352H Missense 9/13 - 1
4-72620803-T-TC c.1055dup p.R353Kfs*11 Frameshift 9/13 - 1
4-72620804-CT-GC c.1054_1055delinsGC p.R352A Missense 9/13 - 1
4-72620804-C-T c.1055G>A p.R352K Missense 9/13 - 1
4-72620805-T-TG c.1053dup p.R352Qfs*12 Frameshift 9/13 - 1
4-72620810-TA-T c.1049del p.L350Qfs*20 Frameshift 9/13 - 1
4-72620812-GTTCAAATGTATA-G c.1036_1047del p.Y346_E349del SpliceAcceptorDeletion 9/13 - 1
4-72620812-T-TCTCGCGCTCGCGCTCG c.1046_1047insCGAGCGCGAGCGCGAG p.E349Dfs*20 Frameshift 9/13 - 1
4-72620813-T-TC c.1045dup p.E349Gfs*15 Frameshift 9/13 - 1
4-72620814-C-T c.1045G>A p.E349K Missense 9/13 - 3
4-72620818-TG-GT c.1040_1041delinsAC p.T347N Missense 9/13 - 1
4-72620818-TGT-ACA c.1039_1041inv p.T347C Missense 9/13 - 1
4-72620820-T-C c.1039A>G p.T347A Missense 9/13 - 1
4-72620823-TA-T c.1036del p.Y346Ifs*5 Frameshift 9/13 - 1
4-72620824-ACCTAGCATGAGGGAGAAAAGGAGATATGTGTTATATATTTCCTATTTATTTATTTATTT-A c.1035-58_1035del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/13 8/12 1
4-72620823-AC-A c.1035del - Frameshift - 8/12 1
4-72620895-T-A c.1035-71A>T - IntronicSNV - 8/12 3
4-72621674-T-G c.1034+755A>C - IntronicSNV - 8/12 8
4-72622432-T-G c.1031A>C p.D344A Missense 8/13 - 1
4-72622432-TC-CG c.1030_1031delinsCG p.D344R Missense 8/13 - 1
4-72622432-T-TC c.1030dup p.D344Gfs*2 Frameshift 8/13 - 1
4-72622434-C-T c.1029G>A p.M343I Missense 8/13 - 1
4-72622436-T-TG c.1026dup p.M343Hfs*3 Frameshift 8/13 - 1
4-72622438-A-G c.1025T>C p.V342A Missense 8/13 - 1
4-72622438-GA-G c.1025del p.V342Afs*9 Frameshift 8/13 - 1
4-72622439-C-T c.1024G>A p.V342I Missense 8/13 - 1
4-72622439-AC-A c.1024del p.V342Sfs*9 Frameshift 8/13 - 1
4-72622440-T-C c.1023A>G p.K341= Synonymous 8/13 - 1
4-72622440-T-A c.1023A>T p.K341N Missense 8/13 - 1
4-72622441-TT-GC c.1021_1022delinsGC p.K341A Missense 8/13 - 1
4-72622441-T-C c.1022A>G p.K341R Missense 8/13 - 1
4-72622443-GG-CA c.1019_1020delinsTG p.T340M Missense 8/13 - 2
4-72622442-T-TGC c.1020_1021insGC p.K341Afs*11 Frameshift 8/13 - 1
4-72622442-T-TG c.1020dup p.K341Qfs*5 Frameshift 8/13 - 1
4-72622444-G-A c.1019C>T p.T340I Missense 8/13 - 1
4-72622445-T-C c.1018A>G p.T340A Missense 8/13 - 4
4-72622447-T-TA c.1015_1016insT p.N339Ifs*7 Frameshift 8/13 - 1
4-72622448-T-TA c.1014_1015insT p.N339* Nonsense 8/13 - 1
4-72622449-T-TC c.1013dup p.N339Kfs*7 Frameshift 8/13 - 1
4-72622452-TG-AT c.1010_1011delinsAT p.P337H Missense 8/13 - 1
4-72622452-T-TG c.1010dup p.G338Rfs*8 Frameshift 8/13 - 1
4-72622456-T-G c.1007A>C p.D336A Missense 8/13 - 1
4-72622457-C-T c.1006G>A p.D336N Missense 8/13 - 2
4-72622457-C-G c.1006G>C p.D336H Missense 8/13 - 2
4-72622458-A-G c.1005T>C p.C335= Synonymous 8/13 - 1
4-72622458-A-AC c.1004dup p.C335Wfs*2 Frameshift 8/13 - 1
4-72622459-CA-GC c.1003_1004delinsGC p.C335A Missense 8/13 - 2
4-72622459-CA-GT c.1003_1004delinsAC p.C335T Missense 8/13 - 1
4-72622460-A-C c.1003T>G p.C335G Missense 8/13 - 1
4-72622462-A-AC c.1000dup p.V334Gfs*3 Frameshift 8/13 - 1
4-72622465-T-G c.998A>C p.D333A Missense 8/13 - 1
4-72622469-T-TG c.993dup p.K332Qfs*5 Frameshift 8/13 - 1
4-72622471-T-G c.992A>C p.N331T Missense 8/13 - 1
4-72622472-T-TA c.990_991insT p.N331* Nonsense 8/13 - 1
4-72622473-T-A c.990A>T p.T330= Synonymous 8/13 - 1
4-72622473-T-TG c.989dup p.N331Kfs*6 Frameshift 8/13 - 1
4-72622474-G-A c.989C>T p.T330I Missense 8/13 - 2
4-72622474-G-T c.989C>A p.T330K Missense 8/13 - 1
4-72622475-T-G c.988A>C p.T330P Missense 8/13 - 2
4-72622475-T-C c.988A>G p.T330A Missense 8/13 - 3
4-72622477-GG-CA c.985_986delinsTG p.P329C Missense 8/13 - 1
4-72622477-GG-CC c.985_986inv p.P329G Missense 8/13 - 1
4-72622477-G-T c.986C>A p.P329H Missense 8/13 - 1
4-72622475-T-TG c.987dup p.T330Hfs*7 Frameshift 8/13 - 1
4-72622479-C-T c.984G>A p.L328= Synonymous 8/13 - 1
4-72622481-A-AC c.981dup p.L328Vfs*9 Frameshift 8/13 - 1
4-72622483-T-C c.980A>G p.E327G Missense 8/13 - 1
4-72622484-C-CA c.978_979insT p.E327* Nonsense 8/13 - 1
4-72622485-TAC-CAT c.976_978delinsATG p.V326M Missense 8/13 - 1
4-72622486-A-G c.977T>C p.V326A Missense 8/13 - 1
4-72622487-C-T c.976G>A p.V326I Missense 8/13 - 4
4-72622487-AC-A c.976del p.V326* Frameshift 8/13 - 1
4-72622488-ATC-CCA c.973_975delinsTGG p.D325W Missense 8/13 - 1
4-72622489-T-G c.974A>C p.D325A Missense 8/13 - 1
4-72622490-C-T c.973G>A p.D325N Missense 8/13 - 1
4-72622492-G-A c.971C>T p.P324L Missense 8/13 - 1
4-72622491-T-TG c.971dup p.D325Rfs*12 Frameshift 8/13 - 1
4-72622493-G-C c.970C>G p.P324A Missense 8/13 - 1
4-72622493-G-A c.970C>T p.P324S Missense 8/13 - 1
4-72622494-A-C c.969T>G p.L323= Synonymous 8/13 - 1
4-72622494-A-T c.969T>A p.L323= Synonymous 8/13 - 1
4-72622494-A-G c.969T>C p.L323= Synonymous 8/13 - 1
4-72622495-AG-CA c.967_968delinsTG p.L323C Missense 8/13 - 1
4-72622495-A-G c.968T>C p.L323P Missense 8/13 - 1
4-72622495-A-AG c.967dup p.L323Pfs*14 Frameshift 8/13 - 1
4-72622496-G-GC c.966dup p.L323Afs*14 Frameshift 8/13 - 1
4-72622497-C-CT c.965dup p.L323Afs*14 Frameshift 8/13 - 1
4-72622498-T-TC c.964dup p.E322Gfs*15 Frameshift 8/13 - 1
4-72622499-C-T c.964G>A p.E322K Missense 8/13 - 3
4-72622500-G-A c.963C>T p.P321= Synonymous 8/13 - 1
4-72622501-G-A c.962C>T p.P321L Missense 8/13 - 2
4-72622501-G-T c.962C>A p.P321H Missense 8/13 - 1
4-72622499-C-CG c.963dup p.E322Rfs*15 Frameshift 8/13 - 1
4-72622503-GAG-CTC c.958_960inv p.L320E Missense 8/13 - 1
4-72622504-A-AG c.958dup p.L320Pfs*17 Frameshift 8/13 - 1
4-72622505-G-C c.958C>G p.L320V Missense 8/13 - 1
4-72622505-G-A c.958C>T p.L320F Missense 8/13 - 3
4-72622507-T-C c.956A>G p.Q319R Missense 8/13 - 1
4-72622507-T-G c.956A>C p.Q319P Missense 8/13 - 1
4-72622507-TG-CC c.955_956delinsGG p.Q319G Missense 8/13 - 1
4-72622508-G-A c.955C>T p.Q319* Nonsense 8/13 - 1
4-72622507-TG-T c.955del p.Q319Nfs*8 Frameshift 8/13 - 1
4-72622507-T-TG c.955dup p.Q319Pfs*18 Frameshift 8/13 - 1
4-72622510-G-A c.953C>T p.A318V Missense 8/13 - 2
4-72622511-C-T c.952G>A p.A318T Missense 8/13 - 1
4-72622511-C-G c.952G>C p.A318P Missense 8/13 - 2
4-72622512-CA-C c.951del p.A318Pfs*9 Frameshift 8/13 - 1
4-72622512-A-AG c.950dup p.A318Cfs*19 Frameshift 8/13 - 1
4-72622513-G-C c.950C>G p.A317G Missense 8/13 - 1
4-72622513-GC-TT c.949_950delinsAA p.A317N Missense 8/13 - 1
4-72622514-C-T c.949G>A p.A317T Missense 8/13 - 3
4-72622514-C-G c.949G>C p.A317P Missense 8/13 - 1
4-72622516-G-T c.947C>A p.P316Q Missense 8/13 - 1
4-72622516-TGGCATGAAGTAAGTGCACACAAAAACG-T c.921_947del p.D307_P316delinsE MultiAAMissense 8/13 - 1
4-72622515-T-TG c.947dup p.A317Sfs*20 Frameshift 8/13 - 1
4-72622517-G-T c.946C>A p.P316T Missense 8/13 - 1
4-72622518-C-T c.945G>A p.M315I Missense 8/13 - 1
4-72622520-T-TG c.942dup p.M315Hfs*22 Frameshift 8/13 - 1
4-72622521-G-A c.942C>T p.F314= Synonymous 8/13 - 1
4-72622523-A-ACTT c.939_940insAAG p.Y313_F314insK InFrameInsertion 8/13 - 1
4-72622524-AG-A c.939del p.F314Sfs*13 Frameshift 8/13 - 1
4-72622525-T-G c.938A>C p.Y313S Missense 8/13 - 1
4-72622526-A-G c.937T>C p.Y313H Missense 8/13 - 1
4-72622527-AGT-CTC c.934_936delinsGAG p.T312E Missense 8/13 - 1
4-72622527-A-AG c.935dup p.Y313Lfs*24 Frameshift 8/13 - 1
4-72622528-G-A c.935C>T p.T312I Missense 8/13 - 1
4-72622529-T-C c.934A>G p.T312A Missense 8/13 - 2
4-72622529-T-TCTGCGTCTCCACGTTGCGCTGCTTGGC c.933_934insGCCAAGCAGCGCAACGTGGAGACGCAG p.C311_T312insAKQRNVETQ InFrameInsertion 8/13 - 1
4-72622530-GCA-CAT c.931_933delinsATG p.C311M Missense 8/13 - 1
4-72622530-G-GC c.932dup p.C311Wfs*26 Frameshift 8/13 - 1
4-72622531-CA-GC c.931_932delinsGC p.C311A Missense 8/13 - 1
4-72622532-A-T c.931T>A p.C311S Missense 8/13 - 1
4-72622531-C-G c.932G>C p.C311S Missense 8/13 - 1
4-72622532-A-C c.931T>G p.C311G Missense 8/13 - 2
4-72622534-A-G c.929T>C p.V310A Missense 8/13 - 1
4-72622540-AC-GG c.922_923delinsCC p.V308P Missense 8/13 - 1
4-72622541-C-T c.922G>A p.V308I Missense 8/13 - 1
4-72622541-C-CG c.921dup p.V308Rfs*29 Frameshift 8/13 - 1
4-72622542-G-A c.921C>T p.D307= Synonymous 8/13 - 1
4-72622543-TC-AA c.919_920delinsTT p.D307F Missense 8/13 - 1
4-72622543-T-G c.920A>C p.D307A Missense 8/13 - 2
4-72622543-T-TC c.919dup p.D307Gfs*30 Frameshift 8/13 - 1
4-72622545-C-G c.918G>C p.M306I Missense 8/13 - 4
4-72622545-C-T c.918G>A p.M306I Missense 8/13 - 4
4-72622545-C-A c.918G>T p.M306I Missense 8/13 - 4
4-72622546-AT-TA c.916_917delinsTA p.M306* Nonsense 8/13 - 1
4-72622547-T-C c.916A>G p.M306V Missense 8/13 - 7
4-72622548-GGC-TTA c.913_915delinsTAA p.A305* Nonsense 8/13 - 1
4-72622548-G-A c.915C>T p.A305= Synonymous 8/13 - 1
4-72622547-T-TG c.915dup p.M306Hfs*31 Frameshift 8/13 - 1
4-72622549-G-GC c.913dup p.A305Gfs*32 Frameshift 8/13 - 1
4-72622550-C-T c.913G>A p.A305T Missense 8/13 - 1
4-72622551-T-TG c.911dup p.A305Sfs*32 Frameshift 8/13 - 1
4-72622550-CTG-C c.911_912del p.T304Sfs*32 Frameshift 8/13 - 1
4-72622552-GT-CC c.910_911delinsGG p.T304G Missense 8/13 - 1
4-72622553-T-C c.910A>G p.T304A Missense 8/13 - 1
4-72622555-T-C c.908A>G p.K303R Missense 8/13 - 1
4-72622558-T-TC c.904dup p.E302Gfs*35 Frameshift 8/13 - 1
4-72622559-C-A c.904G>T p.E302* Nonsense 8/13 - 1
4-72622561-TG-GT c.901_902delinsAC p.Q301T Missense 8/13 - 1
4-72622562-G-C c.901C>G p.Q301E Missense 8/13 - 2
4-72622563-A-AC c.899dup p.C300Wfs*37 Frameshift 8/13 - 1
4-72622564-C-T c.899G>A p.C300Y Missense 8/13 - 1
4-72622565-A-C c.898T>G p.C300G Missense 8/13 - 1
4-72622565-A-G c.898T>C p.C300R Missense 8/13 - 1
4-72622566-A-G c.897T>C p.C299= Synonymous 8/13 - 7
4-72622567-CA-GT c.895_896delinsAC p.C299T Missense 8/13 - 2
4-72622566-A-AC c.896dup p.C299Wfs*38 Frameshift 8/13 - 1
4-72622567-CA-GC c.895_896delinsGC p.C299A Missense 8/13 - 1
4-72622568-A-T c.895T>A p.C299S Missense 8/13 - 1
4-72622567-C-G c.896G>C p.C299S Missense 8/13 - 1
4-72622569-G-C c.894C>G p.D298E Missense 8/13 - 2
4-72622569-G-T c.894C>A p.D298E Missense 8/13 - 2
4-72622569-G-A c.894C>T p.D298= Synonymous 8/13 - 1
4-72622570-T-C c.893A>G p.D298G Missense 8/13 - 1
4-72622570-T-TC c.892dup p.D298Gfs*39 Frameshift 8/13 - 1
4-72622571-C-G c.892G>C p.D298H Missense 8/13 - 1
4-72622571-C-T c.892G>A p.D298N Missense 8/13 - 1
4-72622573-T-G c.890A>C p.E297A Missense 8/13 - 3
4-72622573-T-TC c.889dup p.E297Gfs*40 Frameshift 8/13 - 1
4-72622574-C-T c.889G>A p.E297K Missense 8/13 - 2
4-72622576-A-G c.887T>C p.F296S Missense 8/13 - 2
4-72622579-T-C c.884A>G p.K295R Missense 8/13 - 1
4-72622581-A-AG c.881dup p.K295* Nonsense 8/13 - 1
4-72622583-A-C c.880T>G p.S294A Missense 8/13 - 1
4-72622586-T-TC c.876dup p.N293Efs*3 Frameshift 8/13 - 1
4-72622588-TT-GC c.874_875delinsGC p.K292A Missense 8/13 - 1
4-72622590-TGT-ACA c.871_873inv p.T291C Missense 8/13 - 1
4-72622590-T-C c.873A>G p.T291= Synonymous 8/13 - 1
4-72622590-T-TG c.872dup p.N293Efs*3 Frameshift 8/13 - 2
4-72622591-G-T c.872C>A p.T291K Missense 8/13 - 1
4-72622592-T-TG c.870dup p.T291Hfs*5 Frameshift 8/13 - 1
4-72622595-A-AG c.867_868insC p.S290Lfs*6 Frameshift 8/13 - 1
4-72622600-TT-AA c.862_863inv p.N288F Missense 8/13 - 1
4-72622601-T-C c.862A>G p.N288D Missense 8/13 - 2
4-72622599-AT-A c.863del p.N288Ifs*39 Frameshift 8/13 - 1
4-72622601-T-TTGCA c.861_862insTGCA p.N288Cfs*9 Frameshift 8/13 - 1
4-72622601-T-TG c.861dup p.N288Qfs*8 Frameshift 8/13 - 1
4-72622603-T-C c.860A>G p.D287G Missense 8/13 - 1
4-72622604-C-T c.859G>A p.D287N Missense 8/13 - 2
4-72622605-A-T c.858T>A p.C286* Nonsense 8/13 - 2
4-72622605-CA-C c.858del p.C286Wfs*41 Frameshift 8/13 - 1
4-72622605-A-AC c.857dup p.C286Wfs*2 Frameshift 8/13 - 1
4-72622606-CA-GC c.856_857delinsGC p.C286A Missense 8/13 - 1
4-72622607-A-T c.856T>A p.C286S Missense 8/13 - 1
4-72622606-C-G c.857G>C p.C286S Missense 8/13 - 1
4-72622607-A-G c.856T>C p.C286R Missense 8/13 - 1
4-72622608-AG-A c.855del p.C286Vfs*41 Frameshift 8/13 - 1
4-72622608-GAG-CTC c.853_855inv p.L285E Missense 8/13 - 1
4-72622608-GAG-CCA c.853_855delinsTGG p.L285W Missense 8/13 - 1
4-72622609-A-AC c.853_854insG p.L285Rfs*3 Frameshift 8/13 - 1
4-72622609-A-G c.854T>C p.L285P Missense 8/13 - 2
4-72622609-AG-GC c.853_854delinsGC p.L285A Missense 8/13 - 1
4-72622610-G-C c.853C>G p.L285V Missense 8/13 - 1
4-72622610-G-A c.853C>T p.L285F Missense 8/13 - 1
4-72622611-T-G c.852A>C p.K284N Missense 8/13 - 1
4-72622611-T-A c.852A>T p.K284N Missense 8/13 - 1
4-72622615-A-G c.848T>C p.V283A Missense 8/13 - 1
4-72622616-C-G c.847G>C p.V283L Missense 8/13 - 2
4-72622616-C-A c.847G>T p.V283L Missense 8/13 - 2
4-72622617-TG-GT c.845_846delinsAC p.T282N Missense 8/13 - 1
4-72622618-G-A c.845C>T p.T282I Missense 8/13 - 1
4-72622619-T-C c.844A>G p.T282A Missense 8/13 - 3
4-72622619-T-A c.844A>T p.T282S Missense 8/13 - 1
4-72622619-GT-G c.844del p.T282Qfs*2 Frameshift 8/13 - 1
4-72622619-T-TG c.843dup p.T282Hfs*6 Frameshift 8/13 - 2
4-72622620-TG-T c.843del p.H281Qfs*3 Frameshift 8/13 - 1
4-72622621-GT-G c.842del p.H281Pfs*3 Frameshift 8/13 - 1
4-72622620-G-GT c.842dup p.H281Qfs*7 Frameshift 8/13 - 1
4-72622622-G-T c.841C>A p.H281N Missense 8/13 - 1
4-72622624-T-G c.839A>C p.E280A Missense 8/13 - 2
4-72622626-AG-TT c.836_837delinsAA p.P279Q Missense 8/13 - 1
4-72622627-G-T c.836C>A p.P279H Missense 8/13 - 1
4-72622626-AG-A c.836del p.P279Lfs*5 Frameshift 8/13 - 1
4-72622628-G-C c.835C>G p.P279A Missense 8/13 - 1
4-72622629-CA-AT c.833_834delinsAT p.L278H SpliceAcceptorBlockSubstitution 8/13 - 1
4-72622629-C-T c.834G>A p.L278= Synonymous 8/13 - 1
4-72622631-G-A c.832C>T p.L278= Synonymous 8/13 - 1
4-72623347-A-G c.831+412T>C - IntronicSNV - 7/12 3
4-72623759-C-CT c.830dup p.L278Afs*3 SpliceDonorInsertion 7/13 - 1
4-72623761-C-T c.829G>A p.E277K Missense 7/13 - 1
4-72623761-C-G c.829G>C p.E277Q Missense 7/13 - 1
4-72623763-TT-GC c.826_827delinsGC p.K276A Missense 7/13 - 1
4-72623761-CT-C c.828del p.E277Sfs*7 Frameshift 7/13 - 1
4-72623767-C-T c.823G>A p.A275T Missense 7/13 - 1
4-72623766-G-GC c.823dup p.A275Gfs*6 Frameshift 7/13 - 1
4-72623770-T-TG c.819dup p.M274Hfs*7 Frameshift 7/13 - 1
4-72623771-G-GC c.818dup p.C273Wfs*8 Frameshift 7/13 - 1
4-72623772-C-T c.818G>A p.C273Y Missense 7/13 - 2
4-72623773-A-T c.817T>A p.C273S Missense 7/13 - 1
4-72623772-C-G c.818G>C p.C273S Missense 7/13 - 1
4-72623774-A-G c.816T>C p.D272= Synonymous 7/13 - 1
4-72623775-T-G c.815A>C p.D272A Missense 7/13 - 1
4-72623777-T-G c.813A>C p.E271D Missense 7/13 - 1
4-72623777-T-A c.813A>T p.E271D Missense 7/13 - 1
4-72623778-T-TC c.811dup p.E271Gfs*10 Frameshift 7/13 - 1
4-72623780-AGA-CTC c.808_810delinsGAG p.S270E Missense 7/13 - 1
4-72623780-A-AG c.809dup p.E271* Nonsense 7/13 - 1
4-72623781-GA-CG c.808_809delinsCG p.S270R Missense 7/13 - 2
4-72623782-A-C c.808T>G p.S270A Missense 7/13 - 4
4-72623782-A-AG c.807dup p.S270Lfs*2 Frameshift 7/13 - 1
4-72623784-G-C c.806C>G p.A269G Missense 7/13 - 2
4-72623785-C-T c.805G>A p.A269T Missense 7/13 - 4
4-72623785-C-A c.805G>T p.A269S Missense 7/13 - 1
4-72623785-GC-G c.805del p.A269Pfs*15 Frameshift 7/13 - 1
4-72623786-AGA-CTC c.802_804delinsGAG p.S268E Missense 7/13 - 1
4-72623787-GA-CC c.802_803delinsGG p.S268G Missense 7/13 - 1
4-72623788-A-C c.802T>G p.S268A Missense 7/13 - 3
4-72623788-A-G c.802T>C p.S268P Missense 7/13 - 2
4-72623789-CTC-ACA c.799_801delinsTGT p.E267C Missense 7/13 - 1
4-72623790-TC-AG c.799_800delinsCT p.E267L Missense 7/13 - 1
4-72623790-T-C c.800A>G p.E267G Missense 7/13 - 1
4-72623790-T-G c.800A>C p.E267A Missense 7/13 - 1
4-72623790-CT-C c.800del p.E267Gfs*17 Frameshift 7/13 - 1
4-72623790-T-TC c.799dup p.E267Gfs*5 Frameshift 7/13 - 1
4-72623791-C-G c.799G>C p.E267Q Missense 7/13 - 1
4-72623793-C-T c.797G>A p.C266Y Missense 7/13 - 2
4-72623793-C-G c.797G>C p.C266S Missense 7/13 - 2
4-72623794-A-T c.796T>A p.C266S Missense 7/13 - 1
4-72623794-A-C c.796T>G p.C266G Missense 7/13 - 1
4-72623795-G-C c.795C>G p.C265W Missense 7/13 - 1
4-72623795-G-GC c.794dup p.C265Wfs*3 Frameshift 7/13 - 1
4-72623796-CA-GC c.793_794delinsGC p.C265A Missense 7/13 - 1
4-72623796-C-G c.794G>C p.C265S Missense 7/13 - 1
4-72623799-TT-GC c.790_791delinsGC p.K264A Missense 7/13 - 4
4-72623799-TT-AC c.790_791delinsGT p.K264V Missense 7/13 - 1
4-72623800-T-TG c.789dup p.K264Qfs*4 Frameshift 7/13 - 1
4-72623802-G-A c.788C>T p.S263F Missense 7/13 - 2
4-72623803-A-G c.787T>C p.S263P Missense 7/13 - 1
4-72623804-GAG-CAT c.784_786delinsATG p.L262M Missense 7/13 - 1
4-72623803-A-AG c.786dup p.S263Lfs*5 Frameshift 7/13 - 1
4-72623804-G-A c.786C>T p.L262= Synonymous 7/13 - 1
4-72623805-A-G c.785T>C p.L262P Missense 7/13 - 3
4-72623805-A-C c.785T>G p.L262R Missense 7/13 - 1
4-72623806-G-GTGCTCAGAGAGCTCCAGC c.783_784insGCTGGAGCTCTCTGAGCA p.I261_L262insAGAL* Frameshift 7/13 - 1
4-72623806-G-C c.784C>G p.L262V Missense 7/13 - 1
4-72623805-A-AG c.784dup p.L262Pfs*6 Frameshift 7/13 - 1
4-72623808-AT-GC c.781_782delinsGC p.I261A Missense 7/13 - 2
4-72623808-A-T c.782T>A p.I261N Missense 7/13 - 1
4-72623809-T-C c.781A>G p.I261V Missense 7/13 - 2
4-72623809-T-A c.781A>T p.I261F Missense 7/13 - 1
4-72623809-T-TG c.780dup p.I261Hfs*7 Frameshift 7/13 - 1
4-72623811-GTT-G c.778_779del p.N260Hfs*7 Frameshift 7/13 - 1
4-72623814-GT-AC c.775_776inv p.T259V Missense 7/13 - 1
4-72623814-G-C c.776C>G p.T259S Missense 7/13 - 1
4-72623817-A-T c.773T>A p.I258N Missense 7/13 - 1
4-72623818-T-C c.772A>G p.I258V Missense 7/13 - 1
4-72623818-T-A c.772A>T p.I258F Missense 7/13 - 1
4-72623820-T-G c.770A>C p.D257A Missense 7/13 - 5
4-72623820-ATCTTCAG-A c.764_770del p.A255Vfs*27 Frameshift 7/13 - 1
4-72623821-C-T c.769G>A p.D257N Missense 7/13 - 1
4-72623823-T-TC c.766dup p.E256Gfs*5 Frameshift 7/13 - 1
4-72623824-TC-T c.766del p.E256Kfs*28 Frameshift 7/13 - 1
4-72623824-C-T c.766G>A p.E256K Missense 7/13 - 1
4-72623826-GC-CA c.763_764delinsTG p.A255C Missense 7/13 - 1
4-72623826-G-A c.764C>T p.A255V Missense 7/13 - 1
4-72623826-G-C c.764C>G p.A255G Missense 7/13 - 1
4-72623826-G-GC c.763dup p.A255Gfs*2 Frameshift 7/13 - 1
4-72623827-C-G c.763G>C p.A255P Missense 7/13 - 1
4-72623827-CTAG-C c.760_762del p.L254del InFrameDeletion 7/13 - 1
4-72623829-AG-GC c.760_761delinsGC p.L254A Missense 7/13 - 1
4-72623829-A-AG c.760dup p.L254Pfs*3 Frameshift 7/13 - 1
4-72623831-TGG-AAA c.757_759delinsTTT p.P253F Missense 7/13 - 1
4-72623832-G-A c.758C>T p.P253L Missense 7/13 - 2
4-72623831-T-TG c.758dup p.L254Tfs*3 Frameshift 7/13 - 1
4-72623833-G-C c.757C>G p.P253A Missense 7/13 - 1
4-72623833-G-A c.757C>T p.P253S Missense 7/13 - 1
4-72623833-G-T c.757C>A p.P253T Missense 7/13 - 1
4-72623833-G-GC c.756dup p.P253Afs*4 Frameshift 7/13 - 1
4-72623834-C-A c.756G>T p.L252F Missense 7/13 - 1
4-72623834-C-T c.756G>A p.L252= Synonymous 7/13 - 1
4-72623835-AA-GG c.754_755delinsCC p.L252P Missense 7/13 - 10
4-72623835-AA-TG c.754_755delinsCA p.L252Q Missense 7/13 - 1
4-72623835-AA-CT c.754_755delinsAG p.L252R Missense 7/13 - 1
4-72623836-A-T c.754T>A p.L252M Missense 7/13 - 1
4-72623837-AAC-CAT c.751_753delinsATG p.V251M Missense 7/13 - 1
4-72623837-A-AGGTGGT c.752_753insACCACC p.V251_L252insPP InFrameInsertion 7/13 - 1
4-72623838-A-C c.752T>G p.V251G Missense 7/13 - 1
4-72623839-C-T c.751G>A p.V251I Missense 7/13 - 1
4-72623841-TC-CG c.748_749delinsCG p.D250R Missense 7/13 - 4
4-72623842-C-T c.748G>A p.D250N Missense 7/13 - 2
4-72623841-TC-T c.748del p.D250Mfs*5 Frameshift 7/13 - 2
4-72623844-T-G c.746A>C p.E249A Missense 7/13 - 3
4-72623844-TC-T c.745del p.E249Rfs*6 Frameshift 7/13 - 1
4-72623846-CAG-GAT c.742_744delinsATC p.L248I Missense 7/13 - 2
4-72623846-CAG-AAA c.742_744delinsTTT p.L248F Missense 7/13 - 1
4-72623847-AG-GC c.742_743delinsGC p.L248A Missense 7/13 - 3
4-72623847-AG-GA c.742_743delinsTC p.L248S Missense 7/13 - 1
4-72623847-A-G c.743T>C p.L248P Missense 7/13 - 1
4-72623847-AG-TC c.742_743delinsGA p.L248E Missense 7/13 - 1
4-72623847-A-AT c.742_743insA p.L248Hfs*9 Frameshift 7/13 - 1
4-72623848-AG-A c.742del p.L248Wfs*7 Frameshift 7/13 - 1
4-72623849-A-G c.741T>C p.D247= Synonymous 7/13 - 1
4-72623851-C-T c.739G>A p.D247N Missense 7/13 - 2
4-72623852-AG-CT c.737_738inv p.A246E Missense 7/13 - 2
4-72623853-G-A c.737C>T p.A246V Missense 7/13 - 2
4-72623853-G-C c.737C>G p.A246G Missense 7/13 - 2
4-72623854-C-T c.736G>A p.A246T Missense 7/13 - 2
4-72623855-A-T c.735T>A p.T245= Synonymous 7/13 - 1
4-72623855-A-C c.735T>G p.T245= Synonymous 7/13 - 1
4-72623855-A-G c.735T>C p.T245= Synonymous 7/13 - 1
4-72623856-GT-CC c.733_734delinsGG p.T245G Missense 7/13 - 6
4-72623856-GT-CA c.733_734delinsTG p.T245C Missense 7/13 - 2
4-72623858-A-AG c.731dup p.T245Yfs*3 Frameshift 7/13 - 1
4-72623860-G-GC c.729dup p.P244Afs*4 Frameshift 7/13 - 1
4-72623862-A-AC c.727dup p.V243Gfs*5 Frameshift 7/13 - 1
4-72623865-T-G c.725A>C p.K242T Missense 7/13 - 1
4-72623866-T-TA c.723_724insT p.K242* Nonsense 7/13 - 1
4-72623867-T-A c.723A>T p.Q241H Missense 7/13 - 1
4-72623867-T-G c.723A>C p.Q241H Missense 7/13 - 1
4-72623867-TTG-ACA c.721_723delinsTGT p.Q241C Missense 7/13 - 1
4-72623863-CT-C c.726del p.V243Cfs*12 Frameshift 7/13 - 1
4-72623868-TG-CC c.721_722delinsGG p.Q241G Missense 7/13 - 1
4-72623868-T-C c.722A>G p.Q241R Missense 7/13 - 1
4-72623870-GG-CT c.719_720delinsAG p.A240E Missense 7/13 - 1
4-72623868-T-TG c.721dup p.Q241Pfs*7 Frameshift 7/13 - 1
4-72623871-G-A c.719C>T p.A240V Missense 7/13 - 2
4-72623871-GC-AG c.718_719delinsCT p.A240L Missense 7/13 - 1
4-72623868-TG-T c.721del p.Q241Kfs*14 Frameshift 7/13 - 1
4-72623872-GCTAAC-G c.714_718del p.K238Nfs*8 Frameshift 7/13 - 1
4-72623874-AA-GC c.715_716delinsGC p.L239A Missense 7/13 - 2
4-72623874-A-T c.716T>A p.L239* Nonsense 7/13 - 1
4-72623876-C-G c.714G>C p.K238N Missense 7/13 - 1
4-72623877-TT-GC c.712_713delinsGC p.K238A Missense 7/13 - 1
4-72623880-AT-GC c.709_710delinsGC p.I237A Missense 7/13 - 1
4-72623881-T-C c.709A>G p.I237V Missense 7/13 - 2
4-72623882-G-GT c.707_708insA p.I237Hfs*11 Frameshift 7/13 - 1
4-72623882-G-A c.708C>T p.L236= Synonymous 7/13 - 1
4-72623882-G-C c.708C>G p.L236= Synonymous 7/13 - 1
4-72623882-G-T c.708C>A p.L236= Synonymous 7/13 - 1
4-72623883-A-G c.707T>C p.L236P Missense 7/13 - 1
4-72623883-A-AG c.706dup p.L236Pfs*12 Frameshift 7/13 - 1
4-72623884-G-A c.706C>T p.L236F Missense 7/13 - 1
4-72623884-G-C c.706C>G p.L236V Missense 7/13 - 1
4-72623889-GCTAAACAGTTAAAAATAAATATGTTAGCTTATCAACATTCTCAGTTTTCTTGGTTTCGT-G c.702-59_702-1del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 6/12 1
4-72624135-C-T c.702-247G>A - IntronicSNV - 6/12 1
4-72624501-T-C c.702-613A>G - IntronicSNV - 6/12 2
4-72626088-C-A c.702-2200G>T - IntronicSNV - 6/12 6
4-72626088-C-G c.702-2200G>C - IntronicSNV - 6/12 6
4-72626088-C-T c.702-2200G>A - IntronicSNV - 6/12 6
4-72626488-T-C c.702-2600A>G - IntronicSNV - 6/12 2
4-72627684-A-T c.701+1441T>A - IntronicSNV - 6/12 3
4-72628003-C-T c.701+1122G>A - IntronicSNV - 6/12 2
4-72628969-G-A c.701+156C>T - IntronicSNV - 6/12 1
4-72629125-C-T c.701G>A p.S234N Missense 6/13 - 1
4-72629125-C-A c.701G>T p.S234I Missense 6/13 - 1
4-72629125-CT-GC c.700_701delinsGC p.S234A Missense 6/13 - 1
4-72629126-T-TG c.699dup p.S234Qfs*14 Frameshift 6/13 - 1
4-72629127-TGAG-T c.697_699del p.L233del InFrameDeletion 6/13 - 1
4-72629127-GAG-CAT c.697_699delinsATG p.L233M Missense 6/13 - 1
4-72629128-AG-GT c.697_698delinsAC p.L233T Missense 6/13 - 1
4-72629128-AG-GC c.697_698delinsGC p.L233A Missense 6/13 - 1
4-72629128-AG-CC c.697_698delinsGG p.L233G Missense 6/13 - 1
4-72629128-AG-CT c.697_698inv p.L233S Missense 6/13 - 1
4-72629128-A-G c.698T>C p.L233P Missense 6/13 - 1
4-72629128-A-AG c.697dup p.L233Pfs*15 Frameshift 6/13 - 1
4-72629129-G-C c.697C>G p.L233V Missense 6/13 - 1
4-72629129-G-A c.697C>T p.L233F Missense 6/13 - 1
4-72629130-CCT-ATG c.694_696delinsCAT p.R232H Missense 6/13 - 4
4-72629131-CT-GC c.694_695delinsGC p.R232A Missense 6/13 - 4
4-72629129-G-GC c.696dup p.L233Afs*15 Frameshift 6/13 - 1
4-72629131-CT-TA c.694_695delinsTA p.R232* Nonsense 6/13 - 1
4-72629131-CT-GG c.694_695delinsCC p.R232P Missense 6/13 - 1
4-72629132-T-TA c.693_694insT p.R232* Nonsense 6/13 - 1
4-72629132-T-C c.694A>G p.R232G Missense 6/13 - 1
4-72629133-TGA-GTT c.691_693delinsAAC p.S231N Missense 6/13 - 1
4-72629133-TG-AC c.692_693delinsGT p.S231C Missense 6/13 - 1
4-72629133-T-TG c.692dup p.R232Kfs*16 Frameshift 6/13 - 1
4-72629134-TG-T c.692del p.S231* Frameshift 6/13 - 1
4-72629134-G-A c.692C>T p.S231L Missense 6/13 - 1
4-72629134-GA-AC c.691_692delinsGT p.S231V Missense 6/13 - 1
4-72629135-A-C c.691T>G p.S231A Missense 6/13 - 2
4-72629137-TT-GC c.688_689delinsGC p.K230A Missense 6/13 - 2
4-72629137-T-C c.689A>G p.K230R Missense 6/13 - 2
4-72629139-C-A c.687G>T p.K229N Missense 6/13 - 1
4-72629140-TT-AG c.685_686delinsCT p.K229L Missense 6/13 - 1
4-72629141-T-TC c.684dup p.K229Efs*19 Frameshift 6/13 - 1
4-72629142-C-T c.684G>A p.E228= Synonymous 6/13 - 1
4-72629144-C-A c.682G>T p.E228* Nonsense 6/13 - 2
4-72629144-C-T c.682G>A p.E228K Missense 6/13 - 1
4-72629145-C-T c.681G>A p.G227= Synonymous 6/13 - 1
4-72629146-C-G c.680G>C p.G227A Missense 6/13 - 5
4-72629146-C-T c.680G>A p.G227E Missense 6/13 - 1
4-72629147-C-T c.679G>A p.G227R Missense 6/13 - 1
4-72629147-C-G c.679G>C p.G227R Missense 6/13 - 1
4-72629143-TC-T c.682del p.E228Rfs*10 Frameshift 6/13 - 1
4-72629151-AGC-CAT c.673_675delinsATG p.A225M Missense 6/13 - 1
4-72629152-GC-AA c.673_674delinsTT p.A225F Missense 6/13 - 1
4-72629152-G-A c.674C>T p.A225V Missense 6/13 - 3
4-72629152-G-C c.674C>G p.A225G Missense 6/13 - 1
4-72629152-GC-AG c.673_674delinsCT p.A225L Missense 6/13 - 1
4-72629153-C-G c.673G>C p.A225P Missense 6/13 - 2
4-72629153-C-T c.673G>A p.A225T Missense 6/13 - 1
4-72629154-A-T c.672T>A p.A224= Synonymous 6/13 - 2
4-72629154-A-G c.672T>C p.A224= Synonymous 6/13 - 2
4-72629154-A-C c.672T>G p.A224= Synonymous 6/13 - 2
4-72629155-GC-AT c.670_671delinsAT p.A224I Missense 6/13 - 1
4-72629155-GC-AG c.670_671delinsCT p.A224L Missense 6/13 - 2
4-72629155-G-GC c.670dup p.A224Gfs*24 Frameshift 6/13 - 1
4-72629158-TA-CC c.667_668delinsGG p.Y223G Missense 6/13 - 2
4-72629160-TTG-CCA c.664_666delinsTGG p.Q222W Missense 6/13 - 1
4-72629160-T-A c.666A>T p.Q222H Missense 6/13 - 1
4-72629161-T-C c.665A>G p.Q222R Missense 6/13 - 1
4-72629161-T-TG c.664dup p.Q222Pfs*26 Frameshift 6/13 - 1
4-72629162-G-A c.664C>T p.Q222* Nonsense 6/13 - 4
4-72629162-G-T c.664C>A p.Q222K Missense 6/13 - 3
4-72629163-TG-CC c.662_663delinsGG p.S221W Missense 6/13 - 1
4-72629163-GTGA-G c.661_663del p.S221del InFrameDeletion 6/13 - 1
4-72629165-A-C c.661T>G p.S221A Missense 6/13 - 2
4-72629165-A-AG c.660dup p.S221Lfs*27 Frameshift 6/13 - 1
4-72629166-G-GC c.659dup p.C220Wfs*28 Frameshift 6/13 - 1
4-72629167-C-A c.659G>T p.C220F Missense 6/13 - 1
4-72629167-CA-GT c.658_659delinsAC p.C220T Missense 6/13 - 2
4-72629167-CA-GC c.658_659delinsGC p.C220A Missense 6/13 - 2
4-72629168-A-AG c.657dup p.C220Lfs*28 Frameshift 6/13 - 1
4-72629170-A-G c.656T>C p.V219A Missense 6/13 - 1
4-72629171-AC-A c.655del p.V219Sfs*19 Frameshift 6/13 - 1
4-72629171-C-T c.655G>A p.V219I Missense 6/13 - 3
4-72629171-C-A c.655G>T p.V219F Missense 6/13 - 1
4-72629172-TCT-CCA c.652_654delinsTGG p.R218W Missense 6/13 - 1
4-72629172-TCT-ATG c.652_654delinsCAT p.R218H Missense 6/13 - 2
4-72629172-TCT-ACA c.652_654delinsTGT p.R218C Missense 6/13 - 1
4-72629173-CT-GC c.652_653delinsGC p.R218A Missense 6/13 - 2
4-72629173-CT-TG c.652_653delinsCA p.R218Q Missense 6/13 - 1
4-72629174-T-G c.652A>C p.R218= Synonymous 6/13 - 1
4-72629174-CT-C c.652del p.R218Efs*20 Frameshift 6/13 - 1
4-72629174-T-TA c.651dup p.R218* Nonsense 6/13 - 1
4-72629176-TT-GC c.649_650delinsGC p.N217A Missense 6/13 - 1
4-72629177-T-TG c.648_649insC p.N217Qfs*2 Frameshift 6/13 - 1
4-72629178-T-G c.648A>C p.S216= Synonymous 6/13 - 1
4-72629178-T-C c.648A>G p.S216= Synonymous 6/13 - 1
4-72629178-T-A c.648A>T p.S216= Synonymous 6/13 - 1
4-72629178-T-TG c.647dup p.N217Kfs*2 Frameshift 6/13 - 1
4-72629179-GA-CC c.646_647delinsGG p.S216G Missense 6/13 - 1
4-72629179-G-A c.647C>T p.S216L Missense 6/13 - 1
4-72629180-A-C c.646T>G p.S216A Missense 6/13 - 1
4-72629180-A-T c.646T>A p.S216T Missense 6/13 - 1
4-72629180-A-AC c.645dup p.S216Vfs*3 Frameshift 6/13 - 1
4-72629181-CAG-AAA c.643_645delinsTTT p.L215F Missense 6/13 - 1
4-72629182-AG-GA c.643_644delinsTC p.L215S Missense 6/13 - 1
4-72629182-AG-TC c.643_644delinsGA p.L215E Missense 6/13 - 1
4-72629183-G-A c.643C>T p.L215= Synonymous 6/13 - 1
4-72629184-A-AG c.641dup p.L215Sfs*4 Frameshift 6/13 - 1
4-72629186-T-A c.640A>T p.T214S Missense 6/13 - 1
4-72629185-G-C c.641C>G p.T214S Missense 6/13 - 1
4-72629185-GT-CA c.640_641delinsTG p.T214C Missense 6/13 - 1
4-72629185-G-A c.641C>T p.T214I Missense 6/13 - 1
4-72629186-T-C c.640A>G p.T214A Missense 6/13 - 2
4-72629186-T-G c.640A>C p.T214P Missense 6/13 - 1
4-72629187-GGT-TTA c.637_639delinsTAA p.T213* Nonsense 6/13 - 1
4-72629186-T-TG c.639dup p.T214Hfs*5 Frameshift 6/13 - 2
4-72629188-GT-CC c.637_638delinsGG p.T213G Missense 6/13 - 2
4-72629188-G-C c.638C>G p.T213S Missense 6/13 - 1
4-72629189-T-A c.637A>T p.T213S Missense 6/13 - 1
4-72629186-TG-T c.639del p.T214Lfs*24 Frameshift 6/13 - 1
4-72629188-G-T c.638C>A p.T213N Missense 6/13 - 1
4-72629188-GT-AC c.637_638inv p.T213V Missense 6/13 - 1
4-72629189-T-C c.637A>G p.T213A Missense 6/13 - 1
4-72629190-G-T c.636C>A p.L212= Synonymous 6/13 - 2
4-72629190-G-A c.636C>T p.L212= Synonymous 6/13 - 1
4-72629190-G-C c.636C>G p.L212= Synonymous 6/13 - 1
4-72629190-TG-T c.636del p.T213Pfs*25 Frameshift 6/13 - 1
4-72629191-AG-CA c.634_635delinsTG p.L212C Missense 6/13 - 2
4-72629191-A-G c.635T>C p.L212P Missense 6/13 - 1
4-72629192-G-T c.634C>A p.L212I Missense 6/13 - 4
4-72629192-G-A c.634C>T p.L212F Missense 6/13 - 1
4-72629193-A-T c.633T>A p.L211= Synonymous 6/13 - 1
4-72629193-A-C c.633T>G p.L211= Synonymous 6/13 - 1
4-72629193-A-G c.633T>C p.L211= Synonymous 6/13 - 1
4-72629193-AAG-CTC c.631_633delinsGAG p.L211E Missense 6/13 - 1
4-72629192-GA-G c.633del p.L212Sfs*26 Frameshift 6/13 - 1
4-72629195-AG-A c.631del p.L211Ffs*27 Frameshift 6/13 - 1
4-72629195-G-T c.631C>A p.L211I Missense 6/13 - 1
4-72629195-G-C c.631C>G p.L211V Missense 6/13 - 1
4-72629196-TGA-ATG c.628_630delinsCAT p.S210H Missense 6/13 - 1
4-72629196-T-A c.630A>T p.S210= Synonymous 6/13 - 1
4-72629196-T-C c.630A>G p.S210= Synonymous 6/13 - 1
4-72629196-T-G c.630A>C p.S210= Synonymous 6/13 - 1
4-72629196-T-TG c.629dup p.L211Tfs*8 Frameshift 6/13 - 2
4-72629197-TG-T c.629del p.S210Yfs*28 Frameshift 6/13 - 1
4-72629197-G-A c.629C>T p.S210L Missense 6/13 - 1
4-72629198-A-C c.628T>G p.S210A Missense 6/13 - 1
4-72629198-A-G c.628T>C p.S210P Missense 6/13 - 1
4-72629200-AA-TG c.625_626delinsCA p.L209Q Missense 6/13 - 1
4-72629200-A-G c.626T>C p.L209S Missense 6/13 - 1
4-72629201-A-T c.625T>A p.L209I Missense 6/13 - 1
4-72629199-T-TA c.626dup p.L209Ffs*10 Frameshift 6/13 - 1
4-72629203-TG-GC c.622_623delinsGC p.H208A Missense 6/13 - 2
4-72629203-T-A c.623A>T p.H208L Missense 6/13 - 1
4-72629203-T-TG c.622dup p.H208Pfs*11 Frameshift 6/13 - 1
4-72629206-TT-GC c.619_620delinsGC p.K207A Missense 6/13 - 1
4-72629208-AAG-CCA c.616_618delinsTGG p.L206W Missense 6/13 - 1
4-72629210-G-C c.616C>G p.L206V Missense 6/13 - 1
4-72629211-C-A c.615G>T p.Q205H Missense 6/13 - 1
4-72629211-C-G c.615G>C p.Q205H Missense 6/13 - 1
4-72629212-T-C c.614A>G p.Q205R Missense 6/13 - 1
4-72629212-T-A c.614A>T p.Q205L Missense 6/13 - 2
4-72629212-T-G c.614A>C p.Q205P Missense 6/13 - 1
4-72629213-G-C c.613C>G p.Q205E Missense 6/13 - 2
4-72629213-G-A c.613C>T p.Q205* Nonsense 6/13 - 2
4-72629213-G-T c.613C>A p.Q205K Missense 6/13 - 1
4-72629212-T-TG c.613dup p.Q205Pfs*3 Frameshift 6/13 - 1
4-72629214-G-A c.612C>T p.L204= Synonymous 6/13 - 1
4-72629215-AG-GC c.610_611delinsGC p.L204A Missense 6/13 - 1
4-72629215-A-G c.611T>C p.L204P Missense 6/13 - 1
4-72629215-A-AG c.610dup p.L204Pfs*4 Frameshift 6/13 - 1
4-72629216-AG-A c.610del p.L204Sfs*34 Frameshift 6/13 - 1
4-72629216-G-A c.610C>T p.L204F Missense 6/13 - 1
4-72629216-G-C c.610C>G p.L204V Missense 6/13 - 1
4-72629217-GT-G c.609del p.R203Sfs*35 Frameshift 6/13 - 1
4-72629217-T-C c.609A>G p.R203= Synonymous 6/13 - 1
4-72629219-T-G c.607A>C p.R203= Synonymous 6/13 - 1
4-72629217-TC-CA c.608_609delinsTG p.R203M Missense 6/13 - 4
4-72629217-TCT-ACA c.607_609delinsTGT p.R203C Missense 6/13 - 1
4-72629218-C-T c.608G>A p.R203K Missense 6/13 - 35
4-72629218-CT-TC c.607_608delinsGA p.R203E Missense 6/13 - 1
4-72629218-CT-GC c.607_608delinsGC p.R203A Missense 6/13 - 2
4-72629218-CT-AG c.607_608inv p.R203L Missense 6/13 - 1
4-72629218-C-CT c.607dup p.R203Kfs*5 SpliceAcceptorInsertion - - 1
4-72629219-T-A c.607A>T p.R203* Nonsense 6/13 - 1
4-72629428-A-G c.606+93T>C - IntronicSNV - 5/12 1
4-72629519-A-AC c.606+1dup - SpliceDonorInsertion 5/13 - 1
4-72629521-CTC-GTT c.604_606delinsAAC p.E202N Missense 5/13 - 1
4-72629522-TC-AG c.604_605delinsCT p.E202L Missense 5/13 - 1
4-72629522-T-G c.605A>C p.E202A Missense 5/13 - 2
4-72629523-C-G c.604G>C p.E202Q Missense 5/13 - 2
4-72629523-C-A c.604G>T p.E202* Nonsense 5/13 - 1
4-72629525-TT-GC c.601_602delinsGC p.K201A Missense 5/13 - 2
4-72629525-T-C c.602A>G p.K201R Missense 5/13 - 1
4-72629526-T-G c.601A>C p.K201Q Missense 5/13 - 1
4-72629527-CAA-ATG c.598_600delinsCAT p.L200H Missense 5/13 - 1
4-72629528-A-G c.599T>C p.L200S Missense 5/13 - 1
4-72629530-A-G c.597T>C p.F199= Synonymous 5/13 - 1
4-72629530-AAA-CTT c.595_597delinsAAG p.F199K Missense 5/13 - 1
4-72629533-G-A c.594C>T p.C198= Synonymous 5/13 - 1
4-72629534-C-A c.593G>T p.C198F Missense 5/13 - 1
4-72629536-ATAC-A c.589_591del p.V197del InFrameDeletion 5/13 - 1
4-72629537-A-G c.590T>C p.V197A Missense 5/13 - 2
4-72629537-A-AGCGGGT c.589_590insACCCGC p.V197delinsDPL MultiAAMissense 5/13 - 1
4-72629538-C-T c.589G>A p.V197I Missense 5/13 - 1
4-72629539-A-AG c.587dup p.V197Cfs*11 Frameshift 5/13 - 1
4-72629540-G-A c.587C>T p.T196I Missense 5/13 - 1
4-72629541-T-C c.586A>G p.T196A Missense 5/13 - 1
4-72629542-T-A c.585A>T p.P195= Synonymous 5/13 - 3
4-72629542-T-C c.585A>G p.P195= Synonymous 5/13 - 3
4-72629542-T-G c.585A>C p.P195= Synonymous 5/13 - 3
4-72629544-G-C c.583C>G p.P195A Missense 5/13 - 1
4-72629542-T-TG c.584dup p.T196Nfs*12 Frameshift 5/13 - 1
4-72629545-GC-CT c.581_582delinsAG p.S194K Missense 5/13 - 1
4-72629545-G-GC c.581dup p.S194Rfs*14 Frameshift 5/13 - 1
4-72629546-CT-AG c.580_581inv p.S194L Missense 5/13 - 6
4-72629546-CT-AA c.580_581delinsTT p.S194F Missense 5/13 - 1
4-72629546-CT-GG c.580_581delinsCC p.S194P Missense 5/13 - 2
4-72629549-TGCAGAGGTACAGCAGGACCCTACCA-T c.554_578del p.M185Kfs*8 Frameshift 5/13 - 1
4-72629548-TGCAGA-T c.574_578del p.S192Kfs*14 Frameshift 5/13 - 1
4-72629550-C-A c.577G>T p.A193S Missense 5/13 - 1
4-72629551-CAGAGG-C c.572_576del p.T191Sfs*15 Frameshift 5/13 - 1
4-72629552-G-A c.575C>T p.S192F Missense 5/13 - 1
4-72629552-GA-TT c.574_575delinsAA p.S192N Missense 5/13 - 1
4-72629553-A-C c.574T>G p.S192A Missense 5/13 - 1
4-72629553-A-AG c.573dup p.S192Lfs*16 Frameshift 5/13 - 1
4-72629553-AG-A c.573del p.S192Lfs*9 Frameshift 5/13 - 1
4-72629555-G-A c.572C>T p.T191I Missense 5/13 - 1
4-72629556-T-C c.571A>G p.T191A Missense 5/13 - 1
4-72629557-A-AC c.569dup p.C190Wfs*18 Frameshift 5/13 - 1
4-72629558-C-T c.569G>A p.C190Y Missense 5/13 - 1
4-72629558-CA-GC c.568_569delinsGC p.C190A Missense 5/13 - 2
4-72629558-C-CAAGA c.568_569insTCTT p.C190Ffs*19 Frameshift 5/13 - 1
4-72629560-G-GC c.566dup p.C189Wfs*19 Frameshift 5/13 - 1
4-72629561-GC-G c.566del p.C189Sfs*12 Frameshift 5/13 - 1
4-72629561-CA-GT c.565_566delinsAC p.C189T Missense 5/13 - 2
4-72629561-CA-GC c.565_566delinsGC p.C189A Missense 5/13 - 2
4-72629561-CA-AC c.565_566delinsGT p.C189V Missense 5/13 - 1
4-72629561-C-CAT c.565_566insAT p.C189Yfs*13 Frameshift 5/13 - 1
4-72629562-A-T c.565T>A p.C189S Missense 5/13 - 3
4-72629561-C-G c.566G>C p.C189S Missense 5/13 - 3
4-72629562-A-AG c.564dup p.C189Lfs*19 Frameshift 5/13 - 2
4-72629564-G-A c.563C>T p.S188F Missense 5/13 - 1
4-72629564-GA-TC c.562_563inv p.S188D Missense 5/13 - 1
4-72629565-A-C c.562T>G p.S188A Missense 5/13 - 2
4-72629566-C-G c.561G>C p.G187= Synonymous 5/13 - 1
4-72629567-C-G c.560G>C p.G187A Missense 5/13 - 1
4-72629565-A-AC c.561dup p.S188Vfs*20 Frameshift 5/13 - 1
4-72629570-AC-GT c.556_557inv p.V186T Missense 5/13 - 1
4-72629570-A-C c.557T>G p.V186G Missense 5/13 - 1
4-72629571-C-G c.556G>C p.V186L Missense 5/13 - 2
4-72629571-C-A c.556G>T p.V186L Missense 5/13 - 2
4-72629570-A-AC c.556dup p.V186Gfs*22 Frameshift 5/13 - 1
4-72629572-CAT-GTC c.553_555delinsGAC p.M185D Missense 5/13 - 1
4-72629573-A-T c.554T>A p.M185K Missense 5/13 - 2
4-72629574-T-C c.553A>G p.M185V Missense 5/13 - 1
4-72629575-A-AG c.551dup p.M185Yfs*23 Frameshift 5/13 - 1
4-72629576-GA-CG c.550_551delinsCG p.S184R Missense 5/13 - 1
4-72629577-A-AG c.549_550insC p.S184Lfs*24 Frameshift 5/13 - 1
4-72629578-AAG-CCA c.547_549delinsTGG p.L183W Missense 5/13 - 1
4-72629579-A-AC c.547_548insG p.L183Rfs*25 Frameshift 5/13 - 1
4-72629579-AG-TT c.547_548delinsAA p.L183N Missense 5/13 - 1
4-72629579-A-AG c.547dup p.L183Pfs*25 Frameshift 5/13 - 1
4-72629580-G-A c.547C>T p.L183F Missense 5/13 - 2
4-72629582-T-C c.545A>G p.Y182C Missense 5/13 - 2
4-72629582-TA-T c.544del p.Y182Ifs*5 Frameshift 5/13 - 1
4-72629584-ACT-CTC c.541_543delinsGAG p.S181E Missense 5/13 - 1
4-72629585-CT-GC c.541_542delinsGC p.S181A Missense 5/13 - 2
4-72629585-C-G c.542G>C p.S181T Missense 5/13 - 1
4-72629585-CT-AG c.541_542inv p.S181L Missense 5/13 - 1
4-72629586-T-TA c.540_541insT p.S181* Nonsense 5/13 - 1
4-72629586-T-TC c.540dup p.S181Efs*27 Frameshift 5/13 - 1
4-72629588-T-C c.539A>G p.K180R Missense 5/13 - 1
4-72629588-TT-GC c.538_539delinsGC p.K180A Missense 5/13 - 1
4-72629589-T-TG c.537dup p.K180Qfs*28 Frameshift 5/13 - 1
4-72629591-GT-CA c.535_536delinsTG p.T179C Missense 5/13 - 1
4-72629592-T-C c.535A>G p.T179A Missense 5/13 - 1
4-72629592-T-TG c.534dup p.T179Hfs*29 Frameshift 5/13 - 1
4-72629596-ACT-CTC c.529_531delinsGAG p.S177E Missense 5/13 - 3
4-72629597-C-T c.530G>A p.S177N Missense 5/13 - 1
4-72629597-CT-GC c.529_530delinsGC p.S177A Missense 5/13 - 1
4-72629598-T-TA c.528_529insT p.S177* Nonsense 5/13 - 1
4-72629598-T-TG c.528dup p.S177Qfs*31 Frameshift 5/13 - 1
4-72629599-GAC-CAT c.526_528delinsATG p.V176M Missense 5/13 - 1
4-72629599-G-T c.528C>A p.V176= Synonymous 5/13 - 1
4-72629600-AC-CA c.526_527delinsTG p.V176C Missense 5/13 - 2
4-72629600-A-G c.527T>C p.V176A Missense 5/13 - 1
4-72629601-C-G c.526G>C p.V176L Missense 5/13 - 1
4-72629601-C-T c.526G>A p.V176I Missense 5/13 - 1
4-72629598-TGACTAAAAGTGACAGAG-T c.512_528del p.P171Qfs*31 Frameshift 5/13 - 1
4-72629603-A-G c.524T>C p.L175S Missense 5/13 - 1
4-72629606-A-G c.521T>C p.L174P Missense 5/13 - 2
4-72629606-AG-CT c.520_521inv p.L174S Missense 5/13 - 1
4-72629607-G-A c.520C>T p.L174F Missense 5/13 - 2
4-72629608-T-TG c.518dup p.L174Tfs*34 Frameshift 5/13 - 1
4-72629610-A-G c.517T>C p.S173P Missense 5/13 - 1
4-72629611-CAG-GAT c.514_516delinsATC p.L172I Missense 5/13 - 1
4-72629612-A-G c.515T>C p.L172P Missense 5/13 - 4
4-72629612-A-AG c.514dup p.L172Pfs*36 Frameshift 5/13 - 1
4-72629614-A-C c.513T>G p.P171= Synonymous 5/13 - 1
4-72629614-A-T c.513T>A p.P171= Synonymous 5/13 - 1
4-72629614-A-G c.513T>C p.P171= Synonymous 5/13 - 1
4-72629614-GA-G c.513del p.L172Cfs*4 Frameshift 5/13 - 1
4-72629615-G-A c.512C>T p.P171L Missense 5/13 - 2
4-72629614-A-AG c.512dup p.L172Sfs*36 Frameshift 5/13 - 2
4-72629614-AG-A c.512del p.P171Lfs*5 Frameshift 5/13 - 1
4-72629616-G-A c.511C>T p.P171S Missense 5/13 - 1
4-72629617-A-C c.510T>G p.A170= Synonymous 5/13 - 1
4-72629617-A-AG c.509dup p.P171Sfs*37 Frameshift 5/13 - 2
4-72629618-G-A c.509C>T p.A170V Missense 5/13 - 1
4-72629619-C-A c.508G>T p.A170S Missense 5/13 - 1
4-72629619-C-T c.508G>A p.A170T Missense 5/13 - 4
4-72629621-TG-GA c.505_506delinsTC p.Q169S Missense 5/13 - 1
4-72629621-T-TG c.505dup p.Q169Pfs*39 Frameshift 5/13 - 1
4-72629622-G-C c.505C>G p.Q169E Missense 5/13 - 1
4-72629622-G-T c.505C>A p.Q169K Missense 5/13 - 1
4-72629623-GT-G c.504del p.Q169Kfs*7 Frameshift 5/13 - 1
4-72629624-C-A c.503G>T p.G168V Missense 5/13 - 1
4-72629624-TCCG-T c.501_503del p.Y167_G168delins* MultiAAMissense 5/13 - 1
4-72629624-C-T c.503G>A p.G168E Missense 5/13 - 1
4-72629623-T-TC c.503dup p.Q169Tfs*39 Frameshift 5/13 - 1
4-72629625-C-T c.502G>A p.G168R Missense 5/13 - 2
4-72629627-TA-GC c.499_500delinsGC p.Y167A Missense 5/13 - 1
4-72629629-AAT-A c.497_498del p.N166Ifs*41 Frameshift 5/13 - 1
4-72629631-T-C c.496A>G p.N166D Missense 5/13 - 1
4-72629632-AGT-TTG c.493_495delinsCAA p.T165Q Missense 5/13 - 1
4-72629632-AG-CC c.494_495delinsGG p.T165R Missense 5/13 - 1
4-72629632-AG-CA c.494_495delinsTG p.T165M Missense 5/13 - 1
4-72629633-GT-TC c.493_494delinsGA p.T165D Missense 5/13 - 1
4-72629633-G-A c.494C>T p.T165I Missense 5/13 - 1
4-72629634-T-C c.493A>G p.T165A Missense 5/13 - 1
4-72629635-G-GTCC c.491_492insGGA p.S164_T165insD InFrameInsertion 5/13 - 1
4-72629635-GGA-CTC c.490_492delinsGAG p.S164E Missense 5/13 - 1
4-72629635-G-A c.492C>T p.S164= Synonymous 5/13 - 1
4-72629634-T-TG c.492dup p.T165Hfs*2 Frameshift 5/13 - 1
4-72629636-G-A c.491C>T p.S164F Missense 5/13 - 1
4-72629637-A-C c.490T>G p.S164A Missense 5/13 - 5
4-72629638-A-T c.489T>A p.Y163* Nonsense 5/13 - 1
4-72629638-A-C c.489T>G p.Y163* Nonsense 5/13 - 1
4-72629639-T-G c.488A>C p.Y163S Missense 5/13 - 1
4-72629639-T-C c.488A>G p.Y163C Missense 5/13 - 1
4-72629640-A-C c.487T>G p.Y163D Missense 5/13 - 1
4-72629641-T-G c.486A>C p.E162D Missense 5/13 - 1
4-72629641-T-A c.486A>T p.E162D Missense 5/13 - 1
4-72629642-T-G c.485A>C p.E162A Missense 5/13 - 5
4-72629642-T-C c.485A>G p.E162G Missense 5/13 - 4
4-72629642-TC-GA c.484_485inv p.E162S Missense 5/13 - 1
4-72629642-TC-CT c.484_485delinsAG p.E162R Missense 5/13 - 1
4-72629643-C-CG c.483_484insC p.E162Rfs*5 Frameshift 5/13 - 1
4-72629643-C-G c.484G>C p.E162Q Missense 5/13 - 1
4-72629642-T-TC c.484dup p.E162Gfs*5 Frameshift 5/13 - 2
4-72629645-C-T c.482G>A p.W161* Nonsense 5/13 - 2
4-72629642-TC-T c.484del p.E162Nfs*14 Frameshift 5/13 - 1
4-72629645-CA-GC c.481_482delinsGC p.W161A Missense 5/13 - 1
4-72629646-A-C c.481T>G p.W161G Missense 5/13 - 1
4-72629648-AT-TC c.478_479delinsGA p.M160E Missense 5/13 - 1
4-72629649-T-C c.478A>G p.M160V Missense 5/13 - 2
4-72629652-A-G c.475T>C p.F159L Missense 5/13 - 1
4-72629653-AT-A c.474del p.Q158Hfs*18 Frameshift 5/13 - 1
4-72630558-T-TC c.473+590dup - IntronicInsertion - 4/12 1
4-72630642-C-A c.473+507G>T - IntronicSNV - 4/12 1
4-72631148-C-T c.473+1G>A - IntronicSNV - 4/12 1
4-72631149-TG-GC c.472_473delinsGC p.Q158A Missense 4/13 - 1
4-72631150-G-C c.472C>G p.Q158E Missense 4/13 - 2
4-72631150-TG-T c.472del p.Q158Nfs*18 Frameshift 4/13 - 1
4-72631152-TT-CA c.469_470delinsTG p.N157C Missense 4/13 - 1
4-72631152-T-C c.470A>G p.N157S Missense 4/13 - 1
4-72631155-G-C c.467C>G p.A156G Missense 4/13 - 1
4-72631154-A-AG c.467dup p.N157* Nonsense 4/13 - 1
4-72631155-AG-A c.467del p.A156Vfs*20 Frameshift 4/13 - 1
4-72631155-G-GC c.466dup p.A156Gfs*2 Frameshift 4/13 - 1
4-72631156-C-T c.466G>A p.A156T Missense 4/13 - 1
4-72631156-C-A c.466G>T p.A156S Missense 4/13 - 1
4-72631155-GCATATT-G c.461_466del p.E154_Y155del InFrameDeletion 4/13 - 1
4-72631158-T-G c.464A>C p.Y155S Missense 4/13 - 1
4-72631159-A-G c.463T>C p.Y155H Missense 4/13 - 1
4-72631160-T-G c.462A>C p.E154D Missense 4/13 - 1
4-72631160-T-A c.462A>T p.E154D Missense 4/13 - 1
4-72631161-T-C c.461A>G p.E154G Missense 4/13 - 1
4-72631161-TC-GG c.460_461delinsCC p.E154P Missense 4/13 - 1
4-72631161-TC-AG c.460_461delinsCT p.E154L Missense 4/13 - 1
4-72631162-C-T c.460G>A p.E154K Missense 4/13 - 8
4-72631162-C-G c.460G>C p.E154Q Missense 4/13 - 1
4-72631163-C-T c.459G>A p.K153= Synonymous 4/13 - 1
4-72631163-C-G c.459G>C p.K153N Missense 4/13 - 1
4-72631163-C-A c.459G>T p.K153N Missense 4/13 - 1
4-72631164-TT-GC c.457_458delinsGC p.K153A Missense 4/13 - 1
4-72631166-T-A c.456A>T p.P152= Synonymous 4/13 - 1
4-72631166-T-C c.456A>G p.P152= Synonymous 4/13 - 3
4-72631166-T-G c.456A>C p.P152= Synonymous 4/13 - 1
4-72631167-G-GC c.454_455insG p.P152Rfs*6 Frameshift 4/13 - 1
4-72631167-G-C c.455C>G p.P152R Missense 4/13 - 3
4-72631166-T-TG c.455dup p.E154Gfs*4 Frameshift 4/13 - 1
4-72631168-G-GA c.453dup p.P152Sfs*6 Frameshift 4/13 - 1
4-72631170-T-G c.452A>C p.D151A Missense 4/13 - 1
4-72631171-C-CCAT c.450_451insATG p.K150_D151insM InFrameInsertion 4/13 - 1
4-72631171-C-G c.451G>C p.D151H Missense 4/13 - 1
4-72631171-C-T c.451G>A p.D151N Missense 4/13 - 2
4-72631171-C-CG c.450_451insC p.D151Rfs*7 Frameshift 4/13 - 1
4-72631172-TT-CA c.449_450delinsTG p.K150M Missense 4/13 - 1
4-72631173-T-TTAA c.448_449insTTA p.R149_K150insI InFrameInsertion 4/13 - 1
4-72631173-T-TTGGTTGTTG c.448_449insCAACAACCA p.R149_K150insTTT InFrameInsertion 4/13 - 1
4-72631174-T-C c.448A>G p.K150E Missense 4/13 - 1
4-72631175-C-CGTT c.446_447insAAC p.R149_K150insT InFrameInsertion 4/13 - 1
4-72631174-T-TC c.447dup p.K150Efs*8 Frameshift 4/13 - 1
4-72631176-C-CCCA c.445_446insTGG p.R149delinsMG MultiAAMissense 4/13 - 1
4-72631176-CT-TC c.445_446delinsGA p.R149E Missense 4/13 - 1
4-72631176-C-CT c.445dup p.R149Kfs*9 Frameshift 4/13 - 1
4-72631177-T-TA c.444_445insT p.R149* Nonsense 4/13 - 1
4-72631175-C-CCTT c.446_447insAAG p.R149dup InFrameInsertion 4/13 - 1
4-72631177-T-A c.445A>T p.R149W Missense 4/13 - 2
4-72631177-T-C c.445A>G p.R149G Missense 4/13 - 1
4-72631179-A-AC c.442_443insG p.F148Cfs*10 Frameshift 4/13 - 1
4-72631179-AA-GC c.442_443delinsGC p.F148A Missense 4/13 - 2
4-72631178-GA-G c.443del p.F148Sfs*28 Frameshift 4/13 - 1
4-72631180-A-AC c.441dup p.F148Vfs*10 Frameshift 4/13 - 1
4-72631181-C-T c.441G>A p.A147= Synonymous 4/13 - 1
4-72631181-C-CG c.440dup p.F148Vfs*10 Frameshift 4/13 - 1
4-72631182-G-A c.440C>T p.A147V Missense 4/13 - 1
4-72631183-C-T c.439G>A p.A147T Missense 4/13 - 2
4-72631183-C-G c.439G>C p.A147P Missense 4/13 - 1
4-72631182-G-GCA c.439_440insTG p.A147Vfs*30 Frameshift 4/13 - 1
4-72631183-C-A c.439G>T p.A147S Missense 4/13 - 1
4-72631185-TC-AG c.436_437delinsCT p.E146L Missense 4/13 - 1
4-72631185-T-C c.437A>G p.E146G Missense 4/13 - 1
4-72631185-T-G c.437A>C p.E146A Missense 4/13 - 1
4-72631185-T-TC c.436dup p.E146Gfs*12 Frameshift 4/13 - 1
4-72631186-C-G c.436G>C p.E146Q Missense 4/13 - 2
4-72631186-C-T c.436G>A p.E146K Missense 4/13 - 2
4-72631186-C-CCT c.435_436insAG p.E146Rfs*31 Frameshift 4/13 - 1
4-72631186-C-CA c.435dup p.E146* Nonsense 4/13 - 1
4-72631187-A-AC c.434dup p.C145Wfs*2 Frameshift 4/13 - 1
4-72631188-C-CCAATGG c.433_434insCCATTG p.C145delinsSIG MultiAAMissense 4/13 - 1
4-72631188-CA-GC c.433_434delinsGC p.C145A Missense 4/13 - 11
4-72631188-C-A c.434G>T p.C145F Missense 4/13 - 1
4-72631188-CA-AG c.433_434delinsCT p.C145L Missense 4/13 - 1
4-72631189-A-T c.433T>A p.C145S Missense 4/13 - 2
4-72631188-C-G c.434G>C p.C145S Missense 4/13 - 2
4-72631189-A-C c.433T>G p.C145G Missense 4/13 - 1
4-72631189-A-AG c.432dup p.C145Lfs*2 Frameshift 4/13 - 1
4-72631192-T-C c.430A>G p.I144V Missense 4/13 - 1
4-72631193-TTC-ACA c.427_429delinsTGT p.E143C Missense 4/13 - 1
4-72631193-T-G c.429A>C p.E143D Missense 4/13 - 1
4-72631193-T-A c.429A>T p.E143D Missense 4/13 - 1
4-72631194-T-G c.428A>C p.E143A Missense 4/13 - 1
4-72631195-C-G c.427G>C p.E143Q Missense 4/13 - 1
4-72631195-C-T c.427G>A p.E143K Missense 4/13 - 3
4-72631196-ATC-CTT c.424_426delinsAAG p.D142K Missense 4/13 - 1
4-72631196-A-C c.426T>G p.D142E Missense 4/13 - 1
4-72631196-A-T c.426T>A p.D142E Missense 4/13 - 1
4-72631196-ATC-TTG c.424_426delinsCAA p.D142Q Missense 4/13 - 1
4-72631196-A-AG c.425_426insC p.E143* Nonsense 4/13 - 1
4-72631197-T-G c.425A>C p.D142A Missense 4/13 - 1
4-72631198-C-T c.424G>A p.D142N Missense 4/13 - 2
4-72631198-TCATTTGTGGGTTCCACG-T c.408_424del p.Y136* Frameshift 4/13 - 1
4-72631200-T-A c.422A>T p.N141I Missense 4/13 - 1
4-72631200-TT-GC c.421_422delinsGC p.N141A Missense 4/13 - 2
4-72631201-T-G c.421A>C p.N141H Missense 4/13 - 1
4-72631201-T-C c.421A>G p.N141D Missense 4/13 - 1
4-72631202-T-TC c.419_420insG p.N141Kfs*2 Frameshift 4/13 - 1
4-72631202-TGT-ACA c.418_420inv p.T140C Missense 4/13 - 1
4-72631202-TGT-GTC c.418_420delinsGAC p.T140D Missense 4/13 - 1
4-72631202-T-TG c.419dup p.N141Kfs*2 Frameshift 4/13 - 1
4-72631203-G-T c.419C>A p.T140K Missense 4/13 - 1
4-72631205-G-C c.417C>G p.P139= Synonymous 4/13 - 1
4-72631204-T-TG c.417dup p.T140Hfs*3 Frameshift 4/13 - 1
4-72631207-G-GC c.414_415insG p.P139Afs*4 Frameshift 4/13 - 1
4-72631207-G-C c.415C>G p.P139A Missense 4/13 - 2
4-72631204-TG-T c.417del p.T140Qfs*36 Frameshift 4/13 - 1
4-72631208-T-G c.414A>C p.E138D Missense 4/13 - 1
4-72631208-T-A c.414A>T p.E138D Missense 4/13 - 1
4-72631208-T-C c.414A>G p.E138= Synonymous 4/13 - 2
4-72631209-T-G c.413A>C p.E138A Missense 4/13 - 3
4-72631210-C-T c.412G>A p.E138K Missense 4/13 - 6
4-72631209-T-TCTGTTGTTG c.412_413insCAACAACAG p.V137_E138insATT InFrameInsertion 4/13 - 1
4-72631212-A-G c.410T>C p.V137A Missense 4/13 - 2
4-72631212-AC-GT c.409_410inv p.V137T Missense 4/13 - 1
4-72631213-AC-A c.409del p.V137Wfs*39 Frameshift 4/13 - 1
4-72631213-C-A c.409G>T p.V137L Missense 4/13 - 1
4-72631213-C-CG c.408dup p.V137Rfs*6 Frameshift 4/13 - 1
4-72631214-CG-C c.408del p.Y136* Frameshift 4/13 - 1
4-72631215-T-A c.407A>T p.Y136F Missense 4/13 - 9
4-72631215-T-G c.407A>C p.Y136S Missense 4/13 - 1
4-72631216-A-ATGTTGTTGTTGT c.405_406insACAACAACAACA p.T135_Y136insTTTT InFrameInsertion 4/13 - 1
4-72631216-A-G c.406T>C p.Y136H Missense 4/13 - 2
4-72631216-A-AG c.405dup p.Y136Lfs*7 Frameshift 4/13 - 1
4-72631218-GT-AG c.403_404delinsCT p.T135L Missense 4/13 - 1
4-72631218-GT-AA c.403_404delinsTT p.T135F Missense 4/13 - 1
4-72631218-G-C c.404C>G p.T135S Missense 4/13 - 1
4-72631219-T-A c.403A>T p.T135S Missense 4/13 - 1
4-72631218-GT-CC c.403_404delinsGG p.T135G Missense 4/13 - 1
4-72631218-G-A c.404C>T p.T135I Missense 4/13 - 1
4-72631218-G-T c.404C>A p.T135N Missense 4/13 - 1
4-72631219-T-G c.403A>C p.T135P Missense 4/13 - 1
4-72631219-T-C c.403A>G p.T135A Missense 4/13 - 1
4-72631220-A-AGCGGCG c.401_402insCGCCGC p.P134_T135insAA InFrameInsertion 4/13 - 1
4-72631221-G-A c.401C>T p.P134L Missense 4/13 - 1
4-72631222-G-C c.400C>G p.P134A Missense 4/13 - 1
4-72631222-G-A c.400C>T p.P134S Missense 4/13 - 1
4-72631220-A-AG c.401dup p.T135Yfs*8 Frameshift 4/13 - 1
4-72631223-GGAATTCCTGTGGCTGGTGTTTCAGAGCAGCCATGCAGAGCTTTCGTTCCAGGCCCTCTT-G c.341_399del p.K114Tfs*9 InFrameDeletion 4/13 - 1
4-72631224-AA-GC c.397_398delinsGC p.F133A Missense 4/13 - 1
4-72631224-A-G c.398T>C p.F133S Missense 4/13 - 1
4-72631223-GA-G c.398del p.F133Sfs*43 Frameshift 4/13 - 1
4-72631226-TTC-ACA c.394_396delinsTGT p.E132C Missense 4/13 - 1
4-72631226-ATTC-A c.394_396del p.E132del InFrameDeletion 4/13 - 1
4-72631227-T-C c.395A>G p.E132G Missense 4/13 - 1
4-72631227-T-A c.395A>T p.E132V Missense 4/13 - 1
4-72631227-T-G c.395A>C p.E132A Missense 4/13 - 1
4-72631228-C-T c.394G>A p.E132K Missense 4/13 - 1
4-72631227-T-TC c.394dup p.E132Gfs*11 Frameshift 4/13 - 1
4-72631227-TC-T c.394del p.E132Nfs*44 Frameshift 4/13 - 1
4-72631230-T-C c.392A>G p.Q131R Missense 4/13 - 1
4-72631230-T-TG c.391dup p.Q131Pfs*12 Frameshift 4/13 - 2
4-72631232-T-A c.390A>T p.P130= Synonymous 4/13 - 1
4-72631232-T-C c.390A>G p.P130= Synonymous 4/13 - 1
4-72631232-T-G c.390A>C p.P130= Synonymous 4/13 - 1
4-72631233-G-C c.389C>G p.P130R Missense 4/13 - 1
4-72631232-T-TG c.389dup p.Q131Tfs*12 Frameshift 4/13 - 1
4-72631232-TG-T c.389del p.P130Hfs*46 Frameshift 4/13 - 2
4-72631234-G-A c.388C>T p.P130S Missense 4/13 - 1
4-72631236-T-A c.386A>T p.Q129L Missense 4/13 - 1
4-72631236-TG-AC c.385_386delinsGT p.Q129V Missense 4/13 - 1
4-72631236-T-C c.386A>G p.Q129R Missense 4/13 - 1
4-72631237-G-A c.385C>T p.Q129* Nonsense 4/13 - 2
4-72631237-G-T c.385C>A p.Q129K Missense 4/13 - 1
4-72631239-TG-GC c.382_383delinsGC p.H128A Missense 4/13 - 3
4-72631239-T-TG c.382dup p.H128Pfs*15 Frameshift 4/13 - 1
4-72631240-G-C c.382C>G p.H128D Missense 4/13 - 1
4-72631241-TT-CA c.380_381delinsTG p.K127M Missense 4/13 - 1
4-72631241-T-G c.381A>C p.K127N Missense 4/13 - 1
4-72631241-T-A c.381A>T p.K127N Missense 4/13 - 1
4-72631242-T-G c.380A>C p.K127T Missense 4/13 - 1
4-72631242-T-A c.380A>T p.K127I Missense 4/13 - 1
4-72631242-TT-GC c.379_380delinsGC p.K127A Missense 4/13 - 1
4-72631242-T-C c.380A>G p.K127R Missense 4/13 - 4
4-72631243-T-C c.379A>G p.K127E Missense 4/13 - 1
4-72631243-T-TC c.378dup p.K127Efs*16 Frameshift 4/13 - 1
4-72631244-CAG-ACA c.376_378delinsTGT p.L126C Missense 4/13 - 2
4-72631244-CAG-AAA c.376_378delinsTTT p.L126F Missense 4/13 - 2
4-72631244-TC-T c.378del p.K127Nfs*49 Frameshift 4/13 - 1
4-72631245-A-C c.377T>G p.L126R Missense 4/13 - 2
4-72631245-A-T c.377T>A p.L126Q Missense 4/13 - 2
4-72631245-AG-GA c.376_377delinsTC p.L126S Missense 4/13 - 1
4-72631245-A-AG c.376dup p.L126Pfs*17 Frameshift 4/13 - 1
4-72631246-G-A c.376C>T p.L126= Synonymous 4/13 - 1
4-72631247-A-T c.375T>A p.A125= Synonymous 4/13 - 1
4-72631247-A-G c.375T>C p.A125= Synonymous 4/13 - 1
4-72631247-A-C c.375T>G p.A125= Synonymous 4/13 - 1
4-72631249-C-T c.373G>A p.A125T Missense 4/13 - 3
4-72631249-C-A c.373G>T p.A125S Missense 4/13 - 1
4-72631249-C-G c.373G>C p.A125P Missense 4/13 - 3
4-72631250-A-T c.372T>A p.A124= Synonymous 4/13 - 1
4-72631250-A-G c.372T>C p.A124= Synonymous 4/13 - 1
4-72631250-A-C c.372T>G p.A124= Synonymous 4/13 - 1
4-72631251-AG-A c.371del p.A124Vfs*3 Frameshift 4/13 - 1
4-72631251-G-C c.371C>G p.A124G Missense 4/13 - 1
4-72631251-GC-CA c.370_371delinsTG p.A124C Missense 4/13 - 1
4-72631252-C-T c.370G>A p.A124T Missense 4/13 - 1
4-72631253-CAT-GTC c.367_369delinsGAC p.M123D Missense 4/13 - 1
4-72631251-GC-G c.370del p.A124Lfs*3 Frameshift 4/13 - 1
4-72631253-CAT-ACA c.367_369delinsTGT p.M123C Missense 4/13 - 1
4-72631254-AT-TG c.367_368delinsCA p.M123Q Missense 4/13 - 1
4-72631254-AT-TC c.367_368delinsGA p.M123E Missense 4/13 - 1
4-72631254-A-G c.368T>C p.M123T Missense 4/13 - 2
4-72631255-T-G c.367A>C p.M123L Missense 4/13 - 1
4-72631255-T-A c.367A>T p.M123L Missense 4/13 - 1
4-72631255-T-TG c.366dup p.M123Hfs*20 Frameshift 4/13 - 1
4-72631256-G-C c.366C>G p.C122W Missense 4/13 - 1
4-72631256-G-A c.366C>T p.C122= Synonymous 4/13 - 1
4-72631257-CA-GC c.364_365delinsGC p.C122A Missense 4/13 - 4
4-72631257-C-T c.365G>A p.C122Y Missense 4/13 - 1
4-72631258-A-G c.364T>C p.C122R Missense 4/13 - 3
4-72631258-A-AG c.363dup p.C122Lfs*21 Frameshift 4/13 - 1
4-72631260-A-T c.362T>A p.L121H Missense 4/13 - 1
4-72631260-A-G c.362T>C p.L121P Missense 4/13 - 1
4-72631260-A-AG c.361dup p.L121Pfs*22 Frameshift 4/13 - 1
4-72631261-G-A c.361C>T p.L121F Missense 4/13 - 1
4-72631262-GCTTTC-G c.356_360del p.R119Pfs*22 Frameshift 4/13 - 1
4-72631263-TT-GC c.358_359delinsGC p.K120A Missense 4/13 - 1
4-72631264-T-C c.358A>G p.K120E Missense 4/13 - 1
4-72631265-TCG-GTC c.355_357delinsGAC p.R119D Missense 4/13 - 1
4-72631262-C-CT c.359dup p.L121Afs*22 Frameshift 4/13 - 1
4-72631265-TCG-ACA c.355_357delinsTGT p.R119C Missense 4/13 - 1
4-72631265-TC-AT c.356_357delinsAT p.R119H Missense 4/13 - 1
4-72631265-T-TC c.356dup p.L121Afs*22 Frameshift 4/13 - 1
4-72631266-C-A c.356G>T p.R119L Missense 4/13 - 2
4-72631266-C-T c.356G>A p.R119Q Missense 4/13 - 2
4-72631269-T-C c.353A>G p.E118G Missense 4/13 - 1
4-72631269-T-TC c.352dup p.E118Gfs*25 Frameshift 4/13 - 2
4-72631273-G-C c.349C>G p.L117V Missense 4/13 - 1
4-72631272-A-AG c.349dup p.L117Pfs*26 Frameshift 4/13 - 1
4-72631274-GGCCCTCTTTGGTGCAGC-G c.332_348del p.C111Sfs*26 Frameshift 4/13 - 1
4-72631275-C-CG c.346_347insC p.G116Afs*27 Frameshift 4/13 - 1
4-72631276-C-A c.346G>T p.G116C Missense 4/13 - 1
4-72631274-G-GC c.347dup p.L117Pfs*26 Frameshift 4/13 - 1
4-72631277-C-T c.345G>A p.E115= Synonymous 4/13 - 1
4-72631274-GC-G c.347del p.G116Afs*11 Frameshift 4/13 - 1
4-72631278-T-C c.344A>G p.E115G Missense 4/13 - 2
4-72631279-TC-T c.343del p.E115Rfs*12 Frameshift 4/13 - 1
4-72631278-T-TC c.343dup p.E115Gfs*28 Frameshift 4/13 - 1
4-72631279-C-A c.343G>T p.E115* Nonsense 4/13 - 1
4-72631279-C-T c.343G>A p.E115K Missense 4/13 - 1
4-72631280-T-C c.342A>G p.K114= Synonymous 4/13 - 1
4-72631281-T-C c.341A>G p.K114R Missense 4/13 - 1
4-72631281-T-TTTTC c.340_341insGAAA p.K114Rfs*30 Frameshift 4/13 - 1
4-72631282-T-C c.340A>G p.K114E Missense 4/13 - 1
4-72631283-GG-CA c.338_339delinsTG p.T113M Missense 4/13 - 3
4-72631282-T-TG c.339dup p.K114Qfs*29 Frameshift 4/13 - 2
4-72631284-GT-TG c.337_338delinsCA p.T113H Missense 4/13 - 1
4-72631284-G-C c.338C>G p.T113S Missense 4/13 - 1
4-72631285-T-A c.337A>T p.T113S Missense 4/13 - 1
4-72631285-T-G c.337A>C p.T113P Missense 4/13 - 1
4-72631285-T-TG c.336dup p.T113Hfs*30 Frameshift 4/13 - 1
4-72631287-CA-TC c.334_335delinsGA p.C112D Missense 4/13 - 1
4-72631286-G-GC c.335dup p.C112Wfs*31 Frameshift 4/13 - 1
4-72631287-GC-G c.335del p.C112Sfs*15 Frameshift 4/13 - 1
4-72631287-CA-GT c.334_335delinsAC p.C112T Missense 4/13 - 1
4-72631287-CA-GC c.334_335delinsGC p.C112A Missense 4/13 - 2
4-72631288-A-G c.334T>C p.C112R Missense 4/13 - 13
4-72631288-A-T c.334T>A p.C112S Missense 4/13 - 2
4-72631287-C-G c.335G>C p.C112S Missense 4/13 - 2
4-72631290-CA-GC c.331_332delinsGC p.C111A Missense 4/13 - 1
4-72631290-C-T c.332G>A p.C111Y Missense 4/13 - 1
4-72631291-A-C c.331T>G p.C111G Missense 4/13 - 2
4-72631291-A-G c.331T>C p.C111R Missense 4/13 - 1
4-72631291-A-AC c.330dup p.C111Vfs*32 Frameshift 4/13 - 1
4-72631292-C-G c.330G>C p.E110D Missense 4/13 - 1
4-72631292-C-A c.330G>T p.E110D Missense 4/13 - 1
4-72631293-T-G c.329A>C p.E110A Missense 4/13 - 2
4-72631293-T-C c.329A>G p.E110G Missense 4/13 - 1
4-72631293-TC-A c.328_329delinsT p.E110Cfs*17 Frameshift 4/13 - 1
4-72631293-T-TC c.328dup p.E110Gfs*33 Frameshift 4/13 - 1
4-72631294-C-T c.328G>A p.E110K Missense 4/13 - 2
4-72631294-C-G c.328G>C p.E110Q Missense 4/13 - 1
4-72631296-GC-AA c.325_326delinsTT p.A109F Missense 4/13 - 18
4-72631296-GC-CG c.325_326delinsCG p.A109R Missense 4/13 - 1
4-72631295-A-AG c.326dup p.E110* Nonsense 4/13 - 1
4-72631296-G-T c.326C>A p.A109D Missense 4/13 - 1
4-72631296-G-C c.326C>G p.A109G Missense 4/13 - 1
4-72631297-C-A c.325G>T p.A109S Missense 4/13 - 3
4-72631298-A-AG c.323dup p.A109Cfs*2 Frameshift 4/13 - 1
4-72631299-G-T c.323C>A p.T108N Missense 4/13 - 1
4-72631300-T-C c.322A>G p.T108A Missense 4/13 - 1
4-72631301-TGCC-T c.319_321del p.G107del InFrameDeletion 4/13 - 3
4-72631302-C-G c.320G>C p.G107A Missense 4/13 - 1
4-72631303-C-G c.319G>C p.G107R Missense 4/13 - 3
4-72631303-C-A c.319G>T p.G107C Missense 4/13 - 1
4-72631303-C-T c.319G>A p.G107S Missense 4/13 - 1
4-72631305-G-A c.317C>T p.P106L Missense 4/13 - 1
4-72631306-G-A c.316C>T p.P106S Missense 4/13 - 3
4-72631306-G-GA c.315_316insT p.P106Sfs*5 Frameshift 4/13 - 1
4-72631306-G-T c.316C>A p.P106T Missense 4/13 - 1
4-72631304-T-TG c.317dup p.G107Rfs*4 Frameshift 4/13 - 1
4-72631307-G-T c.315C>A p.H105Q Missense 4/13 - 1
4-72631307-G-C c.315C>G p.H105Q Missense 4/13 - 1
4-72631307-GTG-CTT c.313_315delinsAAG p.H105K Missense 4/13 - 1
4-72631308-TG-AA c.313_314delinsTT p.H105F Missense 4/13 - 2
4-72631308-TG-GC c.313_314delinsGC p.H105A Missense 4/13 - 3
4-72631308-T-C c.314A>G p.H105R Missense 4/13 - 2
4-72631308-TG-CA c.313_314inv p.H105C Missense 4/13 - 2
4-72631309-G-A c.313C>T p.H105Y Missense 4/13 - 3
4-72631308-T-TG c.313dup p.H105Pfs*6 Frameshift 4/13 - 1
4-72631309-TG-T c.313del p.H105Tfs*22 Frameshift 4/13 - 1
4-72631310-A-AG c.311_312insC p.H105Sfs*6 Frameshift 4/13 - 1
4-72631311-A-C c.311T>G p.V104G Missense 4/13 - 1
4-72631311-AC-CA c.310_311delinsTG p.V104C Missense 4/13 - 1
4-72631312-C-T c.310G>A p.V104I Missense 4/13 - 3
4-72631311-A-AC c.310dup p.V104Gfs*7 Frameshift 4/13 - 1
4-72631312-C-G c.310G>C p.V104L Missense 4/13 - 1
4-72631312-C-CCCG c.309_310insCGG p.P103_V104insR InFrameInsertion 4/13 - 1
4-72631313-G-T c.309C>A p.P103= Synonymous 4/13 - 1
4-72631314-G-A c.308C>T p.P103L Missense 4/13 - 2
4-72631314-G-C c.308C>G p.P103R Missense 4/13 - 1
4-72631312-CGGGGAATGGAGAATTACTTTCACA-C c.286_309del p.C96_P103del InFrameDeletion 4/13 - 1
4-72631315-G-C c.307C>G p.P103A Missense 4/13 - 2
4-72631315-G-A c.307C>T p.P103S Missense 4/13 - 1
4-72631312-C-CG c.309dup p.V104Rfs*7 Frameshift 4/13 - 1
4-72631312-CG-C c.309del p.V104Ffs*23 Frameshift 4/13 - 2
4-72631317-AA-CG c.304_305delinsCG p.F102R Missense 4/13 - 1
4-72631317-AA-GC c.304_305delinsGC p.F102A Missense 4/13 - 1
4-72631316-G-GA c.305dup p.V104Rfs*7 Frameshift 4/13 - 1
4-72631318-A-C c.304T>G p.F102V Missense 4/13 - 1
4-72631319-T-TC c.302_303insG p.F102Ifs*9 Frameshift 4/13 - 1
4-72631319-TGG-AAA c.301_303delinsTTT p.P101F Missense 4/13 - 1
4-72631320-G-C c.302C>G p.P101R Missense 4/13 - 1
4-72631320-G-A c.302C>T p.P101L Missense 4/13 - 1
4-72631322-A-C c.300T>G p.S100= Synonymous 4/13 - 2
4-72631322-A-G c.300T>C p.S100= Synonymous 4/13 - 2
4-72631322-A-T c.300T>A p.S100= Synonymous 4/13 - 2
4-72631322-AG-CC c.299_300delinsGG p.S100W Missense 4/13 - 2
4-72631323-GA-CC c.298_299delinsGG p.S100G Missense 4/13 - 11
4-72631323-GA-TG c.298_299delinsCA p.S100H Missense 4/13 - 1
4-72631323-GA-CG c.298_299delinsCG p.S100R Missense 4/13 - 1
4-72631323-GA-TT c.298_299delinsAA p.S100N Missense 4/13 - 1
4-72631323-GA-AT c.298_299delinsAT p.S100I Missense 4/13 - 1
4-72631323-G-C c.299C>G p.S100C Missense 4/13 - 5
4-72631324-A-C c.298T>G p.S100A Missense 4/13 - 24
4-72631324-A-G c.298T>C p.S100P Missense 4/13 - 63
4-72631325-A-C c.297T>G p.N99K Missense 4/13 - 1
4-72631325-A-T c.297T>A p.N99K Missense 4/13 - 1
4-72631326-T-A c.296A>T p.N99I Missense 4/13 - 2
4-72631327-T-TC c.294_295insG p.N99Efs*12 Frameshift 4/13 - 1
4-72631328-A-AT c.293_294insA p.S98Rfs*2 Frameshift 4/13 - 1
4-72631328-A-AC c.293dup p.S98Rfs*2 Frameshift 4/13 - 1
4-72631329-CT-AA c.292_293delinsTT p.S98F Missense 4/13 - 5
4-72631329-CT-GC c.292_293delinsGC p.S98A Missense 4/13 - 1
4-72631329-ACT-A c.292_293del p.S98* Frameshift 4/13 - 1
4-72631330-T-C c.292A>G p.S98G Missense 4/13 - 1
4-72631331-TTC-ACA c.289_291delinsTGT p.E97C Missense 4/13 - 3
4-72631332-T-G c.290A>C p.E97A Missense 4/13 - 6
4-72631332-T-C c.290A>G p.E97G Missense 4/13 - 1
4-72631333-C-T c.289G>A p.E97K Missense 4/13 - 1
4-72631334-ACA-CTC c.286_288delinsGAG p.C96E Missense 4/13 - 2
4-72631334-A-G c.288T>C p.C96= Synonymous 4/13 - 1
4-72631334-A-AC c.287dup p.C96Wfs*2 Frameshift 4/13 - 1
4-72631335-C-T c.287G>A p.C96Y Missense 4/13 - 3
4-72631335-C-A c.287G>T p.C96F Missense 4/13 - 2
4-72631335-CA-GC c.286_287delinsGC p.C96A Missense 4/13 - 3
4-72631335-CA-TC c.286_287delinsGA p.C96D Missense 4/13 - 1
4-72631335-ACAGGACTTGGC-A c.277_287del p.A93* Frameshift 4/13 - 1
4-72631337-AGG-A c.284_285del p.S95Lfs*2 Frameshift 4/13 - 1
4-72631338-GA-TT c.283_284delinsAA p.S95N Missense 4/13 - 1
4-72631336-A-AG c.285dup p.C96Lfs*2 Frameshift 4/13 - 1
4-72631338-G-A c.284C>T p.S95F Missense 4/13 - 2
4-72631338-GA-CG c.283_284delinsCG p.S95R Missense 4/13 - 1
4-72631339-A-T c.283T>A p.S95T Missense 4/13 - 5
4-72631339-A-C c.283T>G p.S95A Missense 4/13 - 1
4-72631339-A-G c.283T>C p.S95P Missense 4/13 - 1
4-72631340-CT-GA c.281_282delinsTC p.K94I Missense 4/13 - 1
4-72631340-CTT-GTC c.280_282delinsGAC p.K94D Missense 4/13 - 1
4-72631341-TT-GC c.280_281delinsGC p.K94A Missense 4/13 - 1
4-72631341-T-C c.281A>G p.K94R Missense 4/13 - 2
4-72631342-T-C c.280A>G p.K94E Missense 4/13 - 7
4-72631342-T-TA c.279_280insT p.K94* Nonsense 4/13 - 1
4-72631343-G-T c.279C>A p.A93= Synonymous 4/13 - 6
4-72631343-G-C c.279C>G p.A93= Synonymous 4/13 - 6
4-72631343-G-A c.279C>T p.A93= Synonymous 4/13 - 6
4-72631343-GG-CT c.278_279delinsAG p.A93E Missense 4/13 - 3
4-72631343-GGC-CAT c.277_279delinsATG p.A93M Missense 4/13 - 2
4-72631343-GGC-CCA c.277_279delinsTGG p.A93W Missense 4/13 - 1
4-72631342-T-TG c.279dup p.K94Qfs*4 Frameshift 4/13 - 2
4-72631344-GC-CA c.277_278delinsTG p.A93C Missense 4/13 - 7
4-72631344-GC-AA c.277_278delinsTT p.A93F Missense 4/13 - 9
4-72631344-G-T c.278C>A p.A93D Missense 4/13 - 5
4-72631344-G-A c.278C>T p.A93V Missense 4/13 - 1
4-72631344-G-GC c.277dup p.A93Gfs*5 Frameshift 4/13 - 1
4-72631346-AG-TT c.275_276delinsAA p.S92* Nonsense 4/13 - 1
4-72631346-A-AG c.275dup p.A93Cfs*5 Frameshift 4/13 - 1
4-72631347-GA-TT c.274_275delinsAA p.S92N Missense 4/13 - 1
4-72631347-G-A c.275C>T p.S92F Missense 4/13 - 1
4-72631347-G-C c.275C>G p.S92C Missense 4/13 - 1
4-72631348-A-C c.274T>G p.S92A Missense 4/13 - 4
4-72631348-A-T c.274T>A p.S92T Missense 4/13 - 1
4-72631350-AG-GC c.271_272delinsGC p.L91A Missense 4/13 - 1
4-72631350-AG-TC c.271_272delinsGA p.L91E Missense 4/13 - 1
4-72631351-G-A c.271C>T p.L91= Synonymous 4/13 - 2
4-72631352-TGC-ACA c.268_270delinsTGT p.A90C Missense 4/13 - 4
4-72631352-TG-GT c.269_270delinsAC p.A90D Missense 4/13 - 5
4-72631352-T-G c.270A>C p.A90= Synonymous 4/13 - 4
4-72631352-T-C c.270A>G p.A90= Synonymous 4/13 - 5
4-72631352-T-A c.270A>T p.A90= Synonymous 4/13 - 4
4-72631352-TGC-AAA c.268_270delinsTTT p.A90F Missense 4/13 - 2
4-72631353-G-T c.269C>A p.A90E Missense 4/13 - 5
4-72631353-G-C c.269C>G p.A90G Missense 4/13 - 2
4-72631353-G-A c.269C>T p.A90V Missense 4/13 - 2
4-72631353-GC-TT c.268_269delinsAA p.A90K Missense 4/13 - 1
4-72631354-GC-G c.268del p.A90Hfs*37 Frameshift 4/13 - 1
4-72631354-C-T c.268G>A p.A90T Missense 4/13 - 2
4-72631355-T-A c.267A>T p.S89= Synonymous 4/13 - 1
4-72631355-T-C c.267A>G p.S89= Synonymous 4/13 - 1
4-72631355-T-G c.267A>C p.S89= Synonymous 4/13 - 1
4-72631355-T-TG c.266dup p.A90Sfs*8 Frameshift 4/13 - 1
4-72631356-G-A c.266C>T p.S89L Missense 4/13 - 1
4-72631357-GAGGTCTGGAGGAGAAGGAAAAAGGAAACTCATATATATATGTAAATTTCCAGGCTTTTA-G c.262-55_265del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 4/13 3/12 1
4-72631357-A-T c.265T>A p.S89T Missense 4/13 - 1
4-72631357-A-C c.265T>G p.S89A Missense 4/13 - 2
4-72631358-GG-CC c.263_264inv p.T88R Missense 4/13 - 1
4-72631358-G-T c.264C>A p.T88= Synonymous 4/13 - 1
4-72631358-G-C c.264C>G p.T88= Synonymous 4/13 - 1
4-72631358-G-A c.264C>T p.T88= Synonymous 4/13 - 1
4-72631359-G-C c.263C>G p.T88S Missense 4/13 - 3
4-72631360-T-A c.262A>T p.T88S Missense 4/13 - 3
4-72631357-A-AG c.264dup p.S89Lfs*9 SpliceAcceptorInsertion 4/13 - 2
4-72631359-GT-CA c.262_263delinsTG p.T88C Missense 4/13 - 1
4-72631668-G-A c.262-308C>T - IntronicSNV - 3/12 2
4-72631668-G-C c.262-308C>G - IntronicSNV - 3/12 2
4-72631735-T-C c.262-375A>G - IntronicSNV - 3/12 1
4-72631744-T-C c.262-384A>G - IntronicSNV - 3/12 1
4-72631899-C-A c.262-539G>T - IntronicSNV - 3/12 2
4-72632643-A-G c.262-1283T>C - IntronicSNV - 3/12 1
4-72632931-C-T c.261+1087G>A - IntronicSNV - 3/12 7
4-72633772-T-A c.261+246A>T - IntronicSNV - 3/12 2
4-72634018-C-G c.261G>C p.R87S Missense 3/13 - 1
4-72634018-C-A c.261G>T p.R87S Missense 3/13 - 1
4-72634019-CT-GC c.259_260delinsGC p.R87A Missense 3/13 - 4
4-72634019-C-T c.260G>A p.R87K Missense 3/13 - 1
4-72634019-C-CCAGCTCCGAAGCCGCCGG c.259_260insCCGGCGGCTTCGGAGCTG p.R87delinsTGGFGAG SpliceDonorInsertion 3/13 - 1
4-72634019-CT-TC c.259_260delinsGA p.R87E Missense 3/13 - 1
4-72634019-CT-AG c.259_260inv p.R87L Missense 3/13 - 1
4-72634019-C-CT c.259dup p.R87Kfs*11 SpliceDonorInsertion 3/13 - 1
4-72634020-T-TA c.258_259insT p.R87* Nonsense 3/13 - 1
4-72634021-GG-CA c.257_258delinsTG p.T86M Missense 3/13 - 1
4-72634022-G-A c.257C>T p.T86I Missense 3/13 - 9
4-72634020-T-TG c.258dup p.R87Qfs*11 Frameshift 3/13 - 1
4-72634022-G-C c.257C>G p.T86S Missense 3/13 - 5
4-72634023-T-A c.256A>T p.T86S Missense 3/13 - 5
4-72634022-GT-CA c.256_257delinsTG p.T86C Missense 3/13 - 1
4-72634022-GT-AC c.256_257inv p.T86V Missense 3/13 - 1
4-72634022-GT-AG c.256_257delinsCT p.T86L Missense 3/13 - 1
4-72634023-T-C c.256A>G p.T86A Missense 3/13 - 7
4-72634024-G-C c.255C>G p.D85E Missense 3/13 - 2
4-72634024-G-T c.255C>A p.D85E Missense 3/13 - 2
4-72634025-T-G c.254A>C p.D85A Missense 3/13 - 4
4-72634025-TC-GG c.253_254delinsCC p.D85P Missense 3/13 - 1
4-72634025-TC-AA c.253_254delinsTT p.D85F Missense 3/13 - 3
4-72634025-TC-CT c.253_254delinsAG p.D85S Missense 3/13 - 1
4-72634025-T-C c.254A>G p.D85G Missense 3/13 - 1
4-72634026-C-T c.253G>A p.D85N Missense 3/13 - 3
4-72634028-T-C c.251A>G p.Y84C Missense 3/13 - 1
4-72634028-TA-GC c.250_251delinsGC p.Y84A Missense 3/13 - 2
4-72634028-T-A c.251A>T p.Y84F Missense 3/13 - 1
4-72634028-T-TA c.250dup p.Y84Lfs*2 Frameshift 3/13 - 1
4-72634029-A-AG c.249dup p.Y84Lfs*2 Frameshift 3/13 - 1
4-72634030-GCA-TTG c.247_249delinsCAA p.C83Q Missense 3/13 - 1
4-72634030-G-A c.249C>T p.C83= Synonymous 3/13 - 1
4-72634030-G-T c.249C>A p.C83* Nonsense 3/13 - 1
4-72634030-GCA-CTC c.247_249delinsGAG p.C83E Missense 3/13 - 1
4-72634031-CA-GC c.247_248delinsGC p.C83A Missense 3/13 - 4
4-72634031-CA-GT c.247_248delinsAC p.C83T Missense 3/13 - 1
4-72634031-CA-TC c.247_248delinsGA p.C83D Missense 3/13 - 1
4-72634031-C-G c.248G>C p.C83S Missense 3/13 - 1
4-72634032-CA-C c.247del p.C83Afs*44 Frameshift 3/13 - 1
4-72634033-G-T c.246C>A p.D82E Missense 3/13 - 2
4-72634033-G-A c.246C>T p.D82= Synonymous 3/13 - 2
4-72634034-T-G c.245A>C p.D82A Missense 3/13 - 1
4-72634034-T-C c.245A>G p.D82G Missense 3/13 - 2
4-72634034-TC-AG c.244_245delinsCT p.D82L Missense 3/13 - 1
4-72634034-TC-CA c.244_245delinsTG p.D82C Missense 3/13 - 1
4-72634034-TC-AA c.244_245delinsTT p.D82F Missense 3/13 - 1
4-72634035-C-T c.244G>A p.D82N Missense 3/13 - 2
4-72634036-A-AC c.242_243insG p.D82* Nonsense 3/13 - 1
4-72634036-A-G c.243T>C p.P81= Synonymous 3/13 - 1
4-72634037-GG-TT c.241_242delinsAA p.P81N Missense 3/13 - 1
4-72634037-G-A c.242C>T p.P81L Missense 3/13 - 1
4-72634038-G-T c.241C>A p.P81T Missense 3/13 - 1
4-72634038-G-A c.241C>T p.P81S Missense 3/13 - 1
4-72634036-A-AG c.242dup p.D82* Nonsense 3/13 - 2
4-72634039-G-C c.240C>G p.D80E Missense 3/13 - 2
4-72634039-G-T c.240C>A p.D80E Missense 3/13 - 2
4-72634039-G-A c.240C>T p.D80= Synonymous 3/13 - 2
4-72634040-T-G c.239A>C p.D80A Missense 3/13 - 34
4-72634040-TC-AT c.238_239delinsAT p.D80I Missense 3/13 - 1
4-72634040-T-C c.239A>G p.D80G Missense 3/13 - 2
4-72634040-TC-CG c.238_239delinsCG p.D80R Missense 3/13 - 1
4-72634041-TC-T c.238del p.D80Tfs*47 Frameshift 3/13 - 1
4-72634040-T-TC c.238dup p.D80Gfs*3 Frameshift 3/13 - 1
4-72634041-C-T c.238G>A p.D80N Missense 3/13 - 5
4-72634041-C-A c.238G>T p.D80Y Missense 3/13 - 2
4-72634041-C-G c.238G>C p.D80H Missense 3/13 - 1
4-72634042-A-G c.237T>C p.A79= Synonymous 3/13 - 2
4-72634042-A-C c.237T>G p.A79= Synonymous 3/13 - 2
4-72634042-A-T c.237T>A p.A79= Synonymous 3/13 - 2
4-72634042-AG-CT c.236_237inv p.A79E Missense 3/13 - 1
4-72634040-TCAGCCCCTTCCGCACAGCAGG-T c.218_238del p.A73_A79del InFrameDeletion 3/13 - 1
4-72634043-GC-AA c.235_236delinsTT p.A79F Missense 3/13 - 8
4-72634042-A-AG c.236dup p.D80* Nonsense 3/13 - 1
4-72634043-G-C c.236C>G p.A79G Missense 3/13 - 1
4-72634043-G-T c.236C>A p.A79D Missense 3/13 - 7
4-72634043-G-A c.236C>T p.A79V Missense 3/13 - 1
4-72634043-GC-CA c.235_236delinsTG p.A79C Missense 3/13 - 2
4-72634044-C-G c.235G>C p.A79P Missense 3/13 - 2
4-72634044-C-A c.235G>T p.A79S Missense 3/13 - 1
4-72634044-C-T c.235G>A p.A79T Missense 3/13 - 1
4-72634045-CC-GT c.233_234delinsAC p.G78D Missense 3/13 - 3
4-72634045-CCC-GCT c.232_234delinsAGC p.G78S Missense 3/13 - 1
4-72634046-C-A c.233G>T p.G78V Missense 3/13 - 2
4-72634043-G-GC c.235dup p.A79Gfs*2 Frameshift 3/13 - 1
4-72634043-GC-G c.235del p.A79Lfs*48 Frameshift 3/13 - 1
4-72634047-C-T c.232G>A p.G78R Missense 3/13 - 1
4-72634047-C-G c.232G>C p.G78R Missense 3/13 - 1
4-72634048-T-G c.231A>C p.E77D Missense 3/13 - 1
4-72634048-T-A c.231A>T p.E77D Missense 3/13 - 1
4-72634048-T-C c.231A>G p.E77= Synonymous 3/13 - 3
4-72634048-TTC-ACA c.229_231delinsTGT p.E77C Missense 3/13 - 2
4-72634048-TTC-AAA c.229_231delinsTTT p.E77F Missense 3/13 - 1
4-72634046-CCTTCCG-C c.227_232del p.A76_E77del InFrameDeletion 3/13 - 1
4-72634049-T-G c.230A>C p.E77A Missense 3/13 - 4
4-72634050-C-T c.229G>A p.E77K Missense 3/13 - 1
4-72634051-C-T c.228G>A p.A76= Synonymous 3/13 - 7
4-72634051-C-G c.228G>C p.A76= Synonymous 3/13 - 7
4-72634051-C-A c.228G>T p.A76= Synonymous 3/13 - 7
4-72634049-TC-T c.229del p.E77Kfs*50 Frameshift 3/13 - 1
4-72634049-T-TC c.229dup p.E77Gfs*4 Frameshift 3/13 - 1
4-72634051-CGC-AAA c.226_228delinsTTT p.A76F Missense 3/13 - 11
4-72634051-CG-GT c.227_228delinsAC p.A76D Missense 3/13 - 3
4-72634051-CGC-ACA c.226_228delinsTGT p.A76C Missense 3/13 - 6
4-72634052-G-T c.227C>A p.A76E Missense 3/13 - 9
4-72634052-G-A c.227C>T p.A76V Missense 3/13 - 3
4-72634052-G-C c.227C>G p.A76G Missense 3/13 - 1
4-72634052-G-GC c.226dup p.A76Gfs*5 Frameshift 3/13 - 1
4-72634053-GC-G c.226del p.A76Rfs*51 Frameshift 3/13 - 1
4-72634054-A-AGC c.224_225insGC p.C75Wfs*53 Frameshift 3/13 - 1
4-72634054-ACA-CTC c.223_225delinsGAG p.C75E Missense 3/13 - 2
4-72634054-CACAGCA-C c.220_225del p.C74_C75del InFrameDeletion 3/13 - 1
4-72634054-A-G c.225T>C p.C75= Synonymous 3/13 - 1
4-72634054-A-AC c.224dup p.C75Wfs*6 Frameshift 3/13 - 1
4-72634055-CA-GC c.223_224delinsGC p.C75A Missense 3/13 - 2
4-72634055-CA-TG c.223_224inv p.C75H Missense 3/13 - 1
4-72634055-CA-TC c.223_224delinsGA p.C75D Missense 3/13 - 1
4-72634055-C-A c.224G>T p.C75F Missense 3/13 - 1
4-72634056-A-C c.223T>G p.C75G Missense 3/13 - 1
4-72634057-GCA-CTC c.220_222delinsGAG p.C74E Missense 3/13 - 3
4-72634056-A-AG c.222dup p.C75Lfs*6 Frameshift 3/13 - 1
4-72634057-G-A c.222C>T p.C74= Synonymous 3/13 - 1
4-72634057-G-GC c.221dup p.C74Wfs*7 Frameshift 3/13 - 1
4-72634058-CA-TC c.220_221delinsGA p.C74D Missense 3/13 - 1
4-72634058-C-A c.221G>T p.C74F Missense 3/13 - 2
4-72634058-CA-GT c.220_221delinsAC p.C74T Missense 3/13 - 1
4-72634058-CA-GC c.220_221delinsGC p.C74A Missense 3/13 - 1
4-72634060-GG-CT c.218_219delinsAG p.A73E Missense 3/13 - 5
4-72634060-G-T c.219C>A p.A73= Synonymous 3/13 - 5
4-72634060-G-C c.219C>G p.A73= Synonymous 3/13 - 5
4-72634060-G-A c.219C>T p.A73= Synonymous 3/13 - 5
4-72634061-GC-CA c.217_218delinsTG p.A73C Missense 3/13 - 11
4-72634061-GC-AA c.217_218delinsTT p.A73F Missense 3/13 - 3
4-72634059-A-AG c.219dup p.C74Lfs*7 Frameshift 3/13 - 1
4-72634061-G-C c.218C>G p.A73G Missense 3/13 - 4
4-72634059-AG-A c.219del p.C74Afs*53 Frameshift 3/13 - 1
4-72634061-G-T c.218C>A p.A73D Missense 3/13 - 2
4-72634061-G-GC c.217dup p.A73Gfs*8 Frameshift 3/13 - 1
4-72634062-C-CG c.216_217insC p.A73Rfs*8 Frameshift 3/13 - 1
4-72634062-C-T c.217G>A p.A73T Missense 3/13 - 1
4-72634062-C-G c.217G>C p.A73P Missense 3/13 - 1
4-72634063-T-TG c.215_216insC p.E72Dfs*9 Frameshift 3/13 - 1
4-72634063-T-C c.216A>G p.E72= Synonymous 3/13 - 1
4-72634063-T-G c.216A>C p.E72D Missense 3/13 - 5
4-72634063-T-A c.216A>T p.E72D Missense 3/13 - 4
4-72634063-TTC-ACA c.214_216delinsTGT p.E72C Missense 3/13 - 1
4-72634064-T-G c.215A>C p.E72A Missense 3/13 - 6
4-72634064-T-C c.215A>G p.E72G Missense 3/13 - 1
4-72634065-C-T c.214G>A p.E72K Missense 3/13 - 1
4-72634067-G-T c.212C>A p.T71N Missense 3/13 - 1
4-72634068-T-C c.211A>G p.T71A Missense 3/13 - 1
4-72634068-T-TC c.210dup p.T71Dfs*10 Frameshift 3/13 - 1
4-72634069-CAA-ATG c.208_210delinsCAT p.L70H Missense 3/13 - 1
4-72634070-AA-TG c.208_209delinsCA p.L70Q Missense 3/13 - 1
4-72634070-A-G c.209T>C p.L70S Missense 3/13 - 1
4-72634071-A-T c.208T>A p.L70M Missense 3/13 - 1
4-72634072-GGA-CTT c.205_207delinsAAG p.S69K Missense 3/13 - 1
4-72634071-A-AG c.207dup p.T71Dfs*10 Frameshift 3/13 - 1
4-72634073-G-A c.206C>T p.S69F Missense 3/13 - 1
4-72634074-A-G c.205T>C p.S69P Missense 3/13 - 1
4-72634074-A-T c.205T>A p.S69T Missense 3/13 - 1
4-72634074-A-C c.205T>G p.S69A Missense 3/13 - 3
4-72634075-GA-CT c.203_204delinsAG p.V68E Missense 3/13 - 3
4-72634074-A-AG c.204dup p.S69Lfs*12 Frameshift 3/13 - 1
4-72634075-GAC-CCA c.202_204delinsTGG p.V68W Missense 3/13 - 1
4-72634075-GAC-CAT c.202_204delinsATG p.V68M Missense 3/13 - 2
4-72634075-G-GTCA c.203_204insTGA p.V68_S69insD InFrameInsertion 3/13 - 1
4-72634076-A-G c.203T>C p.V68A Missense 3/13 - 16
4-72634076-GA-G c.203del p.V68Afs*3 Frameshift 3/13 - 1
4-72634076-A-C c.203T>G p.V68G Missense 3/13 - 1
4-72634076-A-T c.203T>A p.V68D Missense 3/13 - 1
4-72634077-C-A c.202G>T p.V68F Missense 3/13 - 7
4-72634077-C-T c.202G>A p.V68I Missense 3/13 - 4
4-72634077-C-G c.202G>C p.V68L Missense 3/13 - 2
4-72634078-AA-CT c.200_201delinsAG p.V67E Missense 3/13 - 1
4-72634079-AC-TT c.199_200delinsAA p.V67N Missense 3/13 - 15
4-72634079-A-G c.200T>C p.V67A Missense 3/13 - 1
4-72634080-C-A c.199G>T p.V67F Missense 3/13 - 2
4-72634080-AC-A c.199del p.V67Lfs*4 Frameshift 3/13 - 1
4-72634080-C-T c.199G>A p.V67I Missense 3/13 - 2
4-72634081-T-C c.198A>G p.E66= Synonymous 3/13 - 1
4-72634081-TTC-AAA c.196_198delinsTTT p.E66F Missense 3/13 - 2
4-72634081-TTC-ACA c.196_198delinsTGT p.E66C Missense 3/13 - 3
4-72634081-T-A c.198A>T p.E66D Missense 3/13 - 2
4-72634081-T-G c.198A>C p.E66D Missense 3/13 - 3
4-72634082-TC-AG c.196_197delinsCT p.E66L Missense 3/13 - 1
4-72634083-C-G c.196G>C p.E66Q Missense 3/13 - 1
4-72634084-C-G c.195G>C p.K65N Missense 3/13 - 1
4-72634084-C-A c.195G>T p.K65N Missense 3/13 - 1
4-72634084-C-T c.195G>A p.K65= Synonymous 3/13 - 1
4-72634082-T-TC c.196dup p.E66Gfs*15 Frameshift 3/13 - 2
4-72634082-TC-T c.196del p.E66Kfs*5 Frameshift 3/13 - 1
4-72634085-T-C c.194A>G p.K65R Missense 3/13 - 17
4-72634085-T-A c.194A>T p.K65M Missense 3/13 - 1
4-72634086-T-TA c.192_193insT p.K65* Nonsense 3/13 - 1
4-72634086-T-C c.193A>G p.K65E Missense 3/13 - 2
4-72634084-CT-C c.194del p.K65Rfs*6 Frameshift 3/13 - 1
4-72634086-T-TC c.192dup p.K65Efs*16 Frameshift 3/13 - 1
4-72634087-CAC-GTT c.190_192delinsAAC p.V64N Missense 3/13 - 6
4-72634087-TC-T c.192del p.K65Rfs*6 Frameshift 3/13 - 1
4-72634087-CAC-GAT c.190_192delinsATC p.V64I Missense 3/13 - 1
4-72634088-A-T c.191T>A p.V64E Missense 3/13 - 1
4-72634088-A-G c.191T>C p.V64A Missense 3/13 - 2
4-72634090-AA-TT c.188_189inv p.L63Q Missense 3/13 - 1
4-72634091-AG-TC c.187_188delinsGA p.L63D Missense 3/13 - 1
4-72634091-A-G c.188T>C p.L63P Missense 3/13 - 1
4-72634091-A-AG c.187dup p.L63Pfs*18 Frameshift 3/13 - 1
4-72634092-G-A c.187C>T p.L63F Missense 3/13 - 2
4-72634094-T-C c.185A>G p.Q62R Missense 3/13 - 2
4-72634094-T-A c.185A>T p.Q62L Missense 3/13 - 1
4-72634095-G-T c.184C>A p.Q62K Missense 3/13 - 1
4-72634094-T-TG c.184dup p.Q62Pfs*19 Frameshift 3/13 - 1
4-72634096-GCT-TCA c.181_183delinsTGA p.S61* Nonsense 3/13 - 1
4-72634097-CT-GC c.181_182delinsGC p.S61A Missense 3/13 - 6
4-72634097-CT-AG c.181_182inv p.S61L Missense 3/13 - 1
4-72634097-C-G c.182G>C p.S61T Missense 3/13 - 1
4-72634097-CT-AA c.181_182delinsTT p.S61F Missense 3/13 - 1
4-72634098-T-A c.181A>T p.S61C Missense 3/13 - 1
4-72634098-T-TA c.180_181insT p.S61* Nonsense 3/13 - 1
4-72634098-T-TG c.180dup p.S61Qfs*20 Frameshift 3/13 - 1
4-72634099-G-C c.180C>G p.V60= Synonymous 3/13 - 1
4-72634099-G-A c.180C>T p.V60= Synonymous 3/13 - 1
4-72634099-G-T c.180C>A p.V60= Synonymous 3/13 - 1
4-72634100-A-C c.179T>G p.V60G Missense 3/13 - 1
4-72634100-A-T c.179T>A p.V60D Missense 3/13 - 1
4-72634100-AC-TT c.178_179delinsAA p.V60N Missense 3/13 - 1
4-72634101-C-T c.178G>A p.V60I Missense 3/13 - 3
4-72634101-C-A c.178G>T p.V60F Missense 3/13 - 1
4-72634100-A-AC c.178dup p.V60Gfs*21 Frameshift 3/13 - 1
4-72634102-C-T c.177G>A p.Q59= Synonymous 3/13 - 1
4-72634100-AC-A c.178del p.V60Sfs*5 Frameshift 3/13 - 1
4-72634103-T-G c.176A>C p.Q59P Missense 3/13 - 1
4-72634103-TG-GC c.175_176delinsGC p.Q59A Missense 3/13 - 1
4-72634104-TG-T c.175del p.Q59Rfs*6 Frameshift 3/13 - 2
4-72634104-G-C c.175C>G p.Q59E Missense 3/13 - 1
4-72634104-G-GCTA c.174_175insTAG p.E58_Q59ins* Nonsense 3/13 - 1
4-72634104-G-GCTGCTGCTGCTGCTA c.174_175insTAGCAGCAGCAGCAG p.E58_Q59ins* Nonsense 3/13 - 1
4-72634105-TTC-ACA c.172_174delinsTGT p.E58C Missense 3/13 - 1
4-72634105-T-C c.174A>G p.E58= Synonymous 3/13 - 1
4-72634106-TC-GG c.172_173delinsCC p.E58P Missense 3/13 - 1
4-72634106-T-G c.173A>C p.E58A Missense 3/13 - 1
4-72634106-TC-GA c.172_173inv p.E58S Missense 3/13 - 1
4-72634107-C-G c.172G>C p.E58Q Missense 3/13 - 2
4-72634109-AA-TC c.169_170delinsGA p.F57D Missense 3/13 - 2
4-72634109-AAACGTGCCAC-A c.161_170del p.S54Mfs*8 Frameshift 3/13 - 1
4-72634109-AA-GC c.169_170delinsGC p.F57A Missense 3/13 - 3
4-72634109-A-C c.170T>G p.F57C Missense 3/13 - 1
4-72634109-AA-CG c.169_170delinsCG p.F57R Missense 3/13 - 1
4-72634111-C-T c.168G>A p.T56= Synonymous 3/13 - 1
4-72634111-C-CG c.167dup p.F57Vfs*2 Frameshift 3/13 - 1
4-72634112-G-T c.167C>A p.T56K Missense 3/13 - 1
4-72634112-GT-TC c.166_167delinsGA p.T56E Missense 3/13 - 1
4-72634113-T-C c.166A>G p.T56A Missense 3/13 - 1
4-72634113-T-TG c.165dup p.T56Hfs*3 Frameshift 3/13 - 1
4-72634114-GC-CT c.164_165delinsAG p.G55E Missense 3/13 - 1
4-72634114-GCC-CCA c.163_165delinsTGG p.G55W Missense 3/13 - 1
4-72634115-C-G c.164G>C p.G55A Missense 3/13 - 4
4-72634115-C-T c.164G>A p.G55D Missense 3/13 - 1
4-72634116-C-A c.163G>T p.G55C Missense 3/13 - 1
4-72634114-G-GC c.164dup p.T56Hfs*3 Frameshift 3/13 - 1
4-72634116-C-T c.163G>A p.G55S Missense 3/13 - 1
4-72634117-A-C c.162T>G p.S54R Missense 3/13 - 1
4-72634117-A-T c.162T>A p.S54R Missense 3/13 - 1
4-72634119-T-G c.160A>C p.S54R Missense 3/13 - 1
4-72634117-ACT-CTC c.160_162delinsGAG p.S54E Missense 3/13 - 1
4-72634117-A-AC c.161dup p.S54Rfs*5 Frameshift 3/13 - 1
4-72634118-CT-GC c.160_161delinsGC p.S54A Missense 3/13 - 6
4-72634118-C-G c.161G>C p.S54T Missense 3/13 - 1
4-72634118-CT-AG c.160_161inv p.S54L Missense 3/13 - 1
4-72634118-CT-AA c.160_161delinsTT p.S54F Missense 3/13 - 1
4-72634119-T-A c.160A>T p.S54C Missense 3/13 - 1
4-72634119-T-C c.160A>G p.S54G Missense 3/13 - 1
4-72634120-G-A c.159C>T p.P53= Synonymous 3/13 - 1
4-72634120-G-C c.159C>G p.P53= Synonymous 3/13 - 1
4-72634120-G-T c.159C>A p.P53= Synonymous 3/13 - 1
4-72634120-GGG-CTT c.157_159delinsAAG p.P53K Missense 3/13 - 1
4-72634120-GGG-CCA c.157_159delinsTGG p.P53W Missense 3/13 - 1
4-72634121-GG-AA c.157_158delinsTT p.P53F Missense 3/13 - 5
4-72634121-G-A c.158C>T p.P53L Missense 3/13 - 2
4-72634121-GG-CA c.157_158delinsTG p.P53C Missense 3/13 - 2
4-72634121-G-T c.158C>A p.P53H Missense 3/13 - 1
4-72634121-GG-TC c.157_158delinsGA p.P53D Missense 3/13 - 2
4-72634121-G-C c.158C>G p.P53R Missense 3/13 - 2
4-72634119-T-TG c.159dup p.S54Qfs*5 Frameshift 3/13 - 1
4-72634122-G-C c.157C>G p.P53A Missense 3/13 - 2
4-72634122-G-A c.157C>T p.P53S Missense 3/13 - 7
4-72634123-AA-TT c.155_156inv p.F52* Nonsense 3/13 - 1
4-72634123-GAAA-G c.154_156del p.F52del InFrameDeletion 3/13 - 1
4-72634123-A-G c.156T>C p.F52= Synonymous 3/13 - 2
4-72634124-AA-CG c.154_155delinsCG p.F52R Missense 3/13 - 1
4-72634124-A-G c.155T>C p.F52S Missense 3/13 - 1
4-72634124-AA-GC c.154_155delinsGC p.F52A Missense 3/13 - 1
4-72634124-A-C c.155T>G p.F52C Missense 3/13 - 1
4-72634125-A-G c.154T>C p.F52L Missense 3/13 - 3
4-72634123-A-T c.156T>A p.F52L Missense 3/13 - 2
4-72634123-A-C c.156T>G p.F52L Missense 3/13 - 2
4-72634125-A-C c.154T>G p.F52V Missense 3/13 - 1
4-72634125-A-AG c.153_154insC p.F52Lfs*7 Frameshift 3/13 - 1
4-72634127-TT-GC c.151_152delinsGC p.K51A Missense 3/13 - 2
4-72634127-T-C c.152A>G p.K51R Missense 3/13 - 1
4-72634125-ATT-A c.152_153del p.K51Ifs*7 Frameshift 3/13 - 1
4-72634128-T-TA c.150_151insT p.K51* Nonsense 3/13 - 1
4-72634128-T-C c.151A>G p.K51E Missense 3/13 - 2
4-72634129-TCT-CCA c.148_150delinsTGG p.R50W Missense 3/13 - 1
4-72634129-TCT-ATG c.148_150delinsCAT p.R50H Missense 3/13 - 2
4-72634129-T-C c.150A>G p.R50= Synonymous 3/13 - 1
4-72634129-TCT-GTC c.148_150delinsGAC p.R50D Missense 3/13 - 1
4-72634129-T-TC c.149dup p.F52Ifs*7 Frameshift 3/13 - 1
4-72634130-CT-GC c.148_149delinsGC p.R50A Missense 3/13 - 3
4-72634130-C-A c.149G>T p.R50I Missense 3/13 - 1
4-72634131-T-G c.148A>C p.R50= Synonymous 3/13 - 2
4-72634131-T-TA c.147dup p.R50* Nonsense 3/13 - 1
4-72634132-ACT-TCA c.145_147delinsTGA p.S49* Nonsense 3/13 - 1
4-72634132-A-AC c.146dup p.S49Rfs*2 Frameshift 3/13 - 1
4-72634133-CT-GC c.145_146delinsGC p.S49A Missense 3/13 - 1
4-72634134-T-TA c.144_145insT p.S49* Nonsense 3/13 - 1
4-72634134-T-C c.145A>G p.S49G Missense 3/13 - 2
4-72634134-T-A c.145A>T p.S49C Missense 3/13 - 2
4-72634134-T-TG c.144dup p.S49Qfs*2 Frameshift 3/13 - 1
4-72634135-GTA-CTT c.142_144delinsAAG p.Y48K Missense 3/13 - 1
4-72634136-TA-GT c.142_143delinsAC p.Y48T Missense 3/13 - 1
4-72634138-C-G c.141G>C p.L47= Synonymous 3/13 - 1
4-72634138-AC-A c.141del p.Y48Tfs*17 Frameshift 3/13 - 1
4-72634137-A-AC c.141dup p.Y48Vfs*3 Frameshift 3/13 - 1
4-72634140-G-A c.139C>T p.L47= Synonymous 3/13 - 2
4-72634139-A-AG c.139dup p.L47Pfs*4 Frameshift 3/13 - 1
4-72634141-G-A c.138C>T p.V46= Synonymous 3/13 - 2
4-72634138-CAGGACT-C c.135_140del p.V46_L47del InFrameDeletion 3/13 - 1
4-72634141-G-T c.138C>A p.V46= Synonymous 3/13 - 1
4-72634141-G-C c.138C>G p.V46= Synonymous 3/13 - 1
4-72634142-A-G c.137T>C p.V46A Missense 3/13 - 1
4-72634143-C-T c.136G>A p.V46I Missense 3/13 - 2
4-72634144-TAG-AAA c.133_135delinsTTT p.L45F Missense 3/13 - 1
4-72634145-AG-GA c.133_134delinsTC p.L45S Missense 3/13 - 1
4-72634145-AG-GC c.133_134delinsGC p.L45A Missense 3/13 - 3
4-72634143-CTAG-C c.133_135del p.L45del InFrameDeletion 3/13 - 1
4-72634145-A-AG c.133dup p.L45Pfs*6 Frameshift 3/13 - 1
4-72634146-G-C c.133C>G p.L45V Missense 3/13 - 1
4-72634147-GTGACCTGAGGGGAAAATAAGACAATATATCAATTAGAACTGAAAGGTTTTTTTTTTTGA-G c.129-55_132del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/13 2/12 1
4-72634147-TG-AC c.131_132delinsGT p.S44C Missense 3/13 - 1
4-72634147-GTGA-G c.130_132del p.S44del SpliceAcceptorDeletion 3/13 - 1
4-72634147-TGA-ATG c.130_132delinsCAT p.S44H Missense 3/13 - 1
4-72634147-T-TG c.131dup p.L45Tfs*6 SpliceAcceptorInsertion 3/13 - 1
4-72634148-GA-AT c.130_131delinsAT p.S44I Missense 3/13 - 1
4-72634149-A-C c.130T>G p.S44A Missense 3/13 - 5
4-72634149-A-G c.130T>C p.S44P Missense 3/13 - 1
4-72634149-GACCTGAGGGGAAAATAAGACAATATATCAATTAGAACTGAAAGGTTTTTTTTTTTGAGA-G c.129-57_130del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/13 2/12 1
4-72634149-A-AACAGCAGCCCCCAGAGCT c.129_130insAGCTCTGGGGGCTGCTGT p.S44_L45insSGGCCS SpliceAcceptorInsertion 3/13 - 1
4-72634149-A-AC c.129dup - SpliceAcceptorInsertion - 2/12 1
4-72634343-C-T c.129-193G>A - IntronicSNV - 2/12 1
4-72634900-C-T c.128+148G>A - IntronicSNV - 2/12 1
4-72634970-G-A c.128+78C>T - IntronicSNV - 2/12 1
4-72634975-G-A c.128+73C>T - IntronicSNV - 2/12 14
4-72635048-AG-GA c.127_128delinsTC p.L43S Missense 2/13 - 1
4-72635048-AG-CA c.127_128delinsTG p.L43W Missense 2/13 - 1
4-72635048-AG-TT c.127_128delinsAA p.L43K Missense 2/13 - 1
4-72635048-A-AG c.127dup p.L43Pfs*8 SpliceDonorInsertion 2/13 - 2
4-72635049-G-GC c.126_127insG p.L43Afs*8 SpliceDonorInsertion 2/13 - 1
4-72635049-G-GT c.126_127insA p.L43Tfs*8 SpliceDonorInsertion 2/13 - 1
4-72635049-G-GA c.126dup p.L43Sfs*8 SpliceDonorInsertion 2/13 - 1
4-72635050-A-AG c.125dup p.L43Sfs*8 Frameshift 2/13 - 1
4-72635051-G-T c.125C>A p.S42Y Missense 2/13 - 2
4-72635051-GA-AG c.124_125delinsCT p.S42L Missense 2/13 - 1
4-72635051-GA-TC c.124_125inv p.S42D Missense 2/13 - 1
4-72635051-GA-TG c.124_125delinsCA p.S42H Missense 2/13 - 1
4-72635052-A-T c.124T>A p.S42T Missense 2/13 - 1
4-72635052-A-C c.124T>G p.S42A Missense 2/13 - 1
4-72635052-GA-G c.124del p.S42Lfs*4 Frameshift 2/13 - 1
4-72635053-ATGT-A c.121_123del p.T41del InFrameDeletion 2/13 - 2
4-72635053-T-C c.123A>G p.T41= Synonymous 2/13 - 1
4-72635053-T-A c.123A>T p.T41= Synonymous 2/13 - 1
4-72635053-T-G c.123A>C p.T41= Synonymous 2/13 - 1
4-72635055-T-C c.121A>G p.T41A Missense 2/13 - 2
4-72635056-GAA-CTC c.118_120delinsGAG p.F40E Missense 2/13 - 1
4-72635055-T-TG c.120dup p.T41Hfs*10 Frameshift 2/13 - 1
4-72635056-G-A c.120C>T p.F40= Synonymous 2/13 - 1
4-72635057-AA-GC c.118_119delinsGC p.F40A Missense 2/13 - 2
4-72635057-AA-TC c.118_119delinsGA p.F40D Missense 2/13 - 1
4-72635057-A-T c.119T>A p.F40Y Missense 2/13 - 1
4-72635059-G-C c.117C>G p.D39E Missense 2/13 - 3
4-72635059-G-T c.117C>A p.D39E Missense 2/13 - 3
4-72635059-G-A c.117C>T p.D39= Synonymous 2/13 - 2
4-72635058-A-AG c.117dup p.F40Lfs*11 Frameshift 2/13 - 1
4-72635060-TC-CA c.115_116delinsTG p.D39C Missense 2/13 - 2
4-72635060-T-G c.116A>C p.D39A Missense 2/13 - 3
4-72635060-T-A c.116A>T p.D39V Missense 2/13 - 1
4-72635060-TC-AA c.115_116delinsTT p.D39F Missense 2/13 - 1
4-72635060-TC-CT c.115_116delinsAG p.D39S Missense 2/13 - 1
4-72635061-C-A c.115G>T p.D39Y Missense 2/13 - 1
4-72635061-C-T c.115G>A p.D39N Missense 2/13 - 1
4-72635062-C-CG c.113_114insC p.E38Dfs*13 Frameshift 2/13 - 1
4-72635060-T-TC c.115dup p.D39Gfs*12 Frameshift 2/13 - 1
4-72635062-C-G c.114G>C p.E38D Missense 2/13 - 1
4-72635062-C-A c.114G>T p.E38D Missense 2/13 - 1
4-72635063-T-G c.113A>C p.E38A Missense 2/13 - 5
4-72635063-T-C c.113A>G p.E38G Missense 2/13 - 1
4-72635064-C-A c.112G>T p.E38* Nonsense 2/13 - 1
4-72635064-C-G c.112G>C p.E38Q Missense 2/13 - 1
4-72635064-C-T c.112G>A p.E38K Missense 2/13 - 1
4-72635063-T-TC c.112dup p.E38Gfs*13 Frameshift 2/13 - 1
4-72635065-C-CG c.110_111insC p.K37Nfs*14 Frameshift 2/13 - 1
4-72635065-C-CA c.110_111insT p.K37Nfs*14 Frameshift 2/13 - 1
4-72635066-TT-GC c.109_110delinsGC p.K37A Missense 2/13 - 4
4-72635067-T-G c.109A>C p.K37Q Missense 2/13 - 2
4-72635067-T-A c.109A>T p.K37* Nonsense 2/13 - 1
4-72635068-TCC-GCT c.106_108delinsAGC p.G36S Missense 2/13 - 2
4-72635068-TCC-ACA c.106_108delinsTGT p.G36C Missense 2/13 - 3
4-72635068-T-A c.108A>T p.G36= Synonymous 2/13 - 1
4-72635068-T-C c.108A>G p.G36= Synonymous 2/13 - 1
4-72635068-T-G c.108A>C p.G36= Synonymous 2/13 - 1
4-72635069-CC-GG c.106_107inv p.G36P Missense 2/13 - 2
4-72635069-C-G c.107G>C p.G36A Missense 2/13 - 6
4-72635069-C-T c.107G>A p.G36E Missense 2/13 - 1
4-72635068-T-TCATATGGTTACCAGGTAGATG c.107_108insCATCTACCTGGTAACCATATG p.G36_K37insIYLVTI* Frameshift 2/13 - 1
4-72635069-C-CTG c.106_107insCA p.G36Afs*11 Frameshift 2/13 - 1
4-72635069-CC-GT c.106_107delinsAC p.G36T Missense 2/13 - 1
4-72635070-C-A c.106G>T p.G36* Nonsense 2/13 - 1
4-72635071-C-A c.105G>T p.L35= Synonymous 2/13 - 1
4-72635072-A-G c.104T>C p.L35P Missense 2/13 - 3
4-72635072-A-C c.104T>G p.L35R Missense 2/13 - 1
4-72635072-AG-TC c.103_104delinsGA p.L35E Missense 2/13 - 2
4-72635072-AG-GC c.103_104delinsGC p.L35A Missense 2/13 - 8
4-72635073-AG-A c.103del p.L35Wfs*11 Frameshift 2/13 - 1
4-72635073-G-A c.103C>T p.L35= Synonymous 2/13 - 1
4-72635074-A-G c.102T>C p.H34= Synonymous 2/13 - 2
4-72635075-TG-GC c.100_101delinsGC p.H34A Missense 2/13 - 4
4-72635075-TG-CA c.100_101inv p.H34C Missense 2/13 - 2
4-72635075-T-C c.101A>G p.H34R Missense 2/13 - 1
4-72635075-TG-CC c.100_101delinsGG p.H34G Missense 2/13 - 2
4-72635076-G-A c.100C>T p.H34Y Missense 2/13 - 1
4-72635076-G-C c.100C>G p.H34D Missense 2/13 - 2
4-72635077-G-A c.99C>T p.S33= Synonymous 2/13 - 1
4-72635077-GGGAGAA-G c.94_99del p.F32_S33del InFrameDeletion 2/13 - 1
4-72635075-T-TG c.100dup p.H34Pfs*17 Frameshift 2/13 - 1
4-72635076-GGGA-G c.97_99del p.S33del InFrameDeletion 2/13 - 1
4-72635078-G-T c.98C>A p.S33Y Missense 2/13 - 7
4-72635078-GA-CC c.97_98delinsGG p.S33G Missense 2/13 - 2
4-72635078-G-C c.98C>G p.S33C Missense 2/13 - 2
4-72635078-GA-TG c.97_98delinsCA p.S33H Missense 2/13 - 1
4-72635079-A-C c.97T>G p.S33A Missense 2/13 - 7
4-72635079-A-G c.97T>C p.S33P Missense 2/13 - 1
4-72635079-A-AG c.96dup p.S33Lfs*18 Frameshift 2/13 - 1
4-72635078-GAGA-G c.95_97del p.F32del InFrameDeletion 2/13 - 1
4-72635080-G-A c.96C>T p.F32= Synonymous 2/13 - 2
4-72635081-AA-TC c.94_95delinsGA p.F32D Missense 2/13 - 1
4-72635081-AA-CC c.94_95delinsGG p.F32G Missense 2/13 - 1
4-72635081-A-G c.95T>C p.F32S Missense 2/13 - 1
4-72635082-A-G c.94T>C p.F32L Missense 2/13 - 1
4-72635080-G-T c.96C>A p.F32L Missense 2/13 - 1
4-72635080-G-C c.96C>G p.F32L Missense 2/13 - 1
4-72635080-GA-G c.95del p.F32Sfs*14 Frameshift 2/13 - 1
4-72635082-A-T c.94T>A p.F32I Missense 2/13 - 1
4-72635083-ATTC-A c.91_93del p.E31del InFrameDeletion 2/13 - 1
4-72635083-T-G c.93A>C p.E31D Missense 2/13 - 4
4-72635083-T-A c.93A>T p.E31D Missense 2/13 - 4
4-72635083-TTC-AAA c.91_93delinsTTT p.E31F Missense 2/13 - 1
4-72635083-T-C c.93A>G p.E31= Synonymous 2/13 - 1
4-72635084-TC-GA c.91_92inv p.E31S Missense 2/13 - 1
4-72635084-T-A c.92A>T p.E31V Missense 2/13 - 1
4-72635084-T-G c.92A>C p.E31A Missense 2/13 - 2
4-72635084-T-TC c.91dup p.E31Gfs*20 Frameshift 2/13 - 1
4-72635087-T-G c.89A>C p.K30T Missense 2/13 - 1
4-72635087-TT-GC c.88_89delinsGC p.K30A Missense 2/13 - 3
4-72635088-T-G c.88A>C p.K30Q Missense 2/13 - 1
4-72635088-T-C c.88A>G p.K30E Missense 2/13 - 1
4-72635089-G-A c.87C>T p.C29= Synonymous 2/13 - 3
4-72635089-GCA-CTC c.85_87delinsGAG p.C29E Missense 2/13 - 3
4-72635089-G-T c.87C>A p.C29* Nonsense 2/13 - 1
4-72635090-CA-GC c.85_86delinsGC p.C29A Missense 2/13 - 4
4-72635090-CA-TG c.85_86inv p.C29H Missense 2/13 - 12
4-72635089-G-GC c.86dup p.C29Wfs*22 Frameshift 2/13 - 1
4-72635090-CA-TC c.85_86delinsGA p.C29D Missense 2/13 - 3
4-72635090-CA-GT c.85_86delinsAC p.C29T Missense 2/13 - 4
4-72635090-CA-TT c.85_86delinsAA p.C29N Missense 2/13 - 2
4-72635090-C-A c.86G>T p.C29F Missense 2/13 - 2
4-72635088-TGCA-T c.85_87del p.C29del InFrameDeletion 2/13 - 1
4-72635091-A-T c.85T>A p.C29S Missense 2/13 - 5
4-72635090-C-G c.86G>C p.C29S Missense 2/13 - 5
4-72635091-A-G c.85T>C p.C29R Missense 2/13 - 2
4-72635091-A-AG c.84dup p.C29Lfs*22 Frameshift 2/13 - 1
4-72635093-A-C c.83T>G p.V28G Missense 2/13 - 1
4-72635093-A-G c.83T>C p.V28A Missense 2/13 - 1
4-72635093-A-AC c.82dup p.V28Gfs*23 Frameshift 2/13 - 1
4-72635094-C-T c.82G>A p.V28I Missense 2/13 - 1
4-72635095-TT-CA c.80_81delinsTG p.K27M Missense 2/13 - 28
4-72635096-T-C c.80A>G p.K27R Missense 2/13 - 2
4-72635096-TT-AG c.79_80delinsCT p.K27L Missense 2/13 - 1
4-72635094-CT-C c.81del p.V28Sfs*18 Frameshift 2/13 - 1
4-72635097-T-C c.79A>G p.K27E Missense 2/13 - 2
4-72635098-ATT-TTA c.76_78delinsTAA p.N26* Nonsense 2/13 - 1
4-72635102-TT-GC c.73_74delinsGC p.K25A Missense 2/13 - 2
4-72635102-T-C c.74A>G p.K25R Missense 2/13 - 1
4-72635104-T-C c.72A>G p.E24= Synonymous 2/13 - 1
4-72635104-TTC-AAA c.70_72delinsTTT p.E24F Missense 2/13 - 1
4-72635104-TTC-ACA c.70_72delinsTGT p.E24C Missense 2/13 - 2
4-72635105-TC-GA c.70_71inv p.E24S Missense 2/13 - 3
4-72635105-T-G c.71A>C p.E24A Missense 2/13 - 4
4-72635105-TC-CT c.70_71delinsAG p.E24R Missense 2/13 - 2
4-72635105-T-C c.71A>G p.E24G Missense 2/13 - 1
4-72635106-C-A c.70G>T p.E24* Nonsense 2/13 - 1
4-72635107-A-AG c.68_69insC p.E24* Nonsense 2/13 - 1
4-72635107-A-G c.69T>C p.Y23= Synonymous 2/13 - 1
4-72635108-TA-GC c.67_68delinsGC p.Y23A Missense 2/13 - 2
4-72635108-ATAATCC-A c.63_68del p.D22_Y23del InFrameDeletion 2/13 - 1
4-72635108-TA-AT c.67_68delinsAT p.Y23I Missense 2/13 - 1
4-72635108-TA-GG c.67_68delinsCC p.Y23P Missense 2/13 - 1
4-72635108-T-C c.68A>G p.Y23C Missense 2/13 - 1
4-72635109-A-AG c.66_67insC p.Y23Lfs*2 Frameshift 2/13 - 1
4-72635109-A-C c.67T>G p.Y23D Missense 2/13 - 2
4-72635110-A-G c.66T>C p.D22= Synonymous 2/13 - 1
4-72635110-A-C c.66T>G p.D22E Missense 2/13 - 2
4-72635110-A-T c.66T>A p.D22E Missense 2/13 - 2
4-72635110-ATC-CAT c.64_66delinsATG p.D22M Missense 2/13 - 1
4-72635111-T-C c.65A>G p.D22G Missense 2/13 - 2
4-72635111-TC-CA c.64_65delinsTG p.D22C Missense 2/13 - 1
4-72635111-TC-AA c.64_65delinsTT p.D22F Missense 2/13 - 1
4-72635112-C-A c.64G>T p.D22Y Missense 2/13 - 2
4-72635112-C-T c.64G>A p.D22N Missense 2/13 - 1
4-72635113-CCG-AAA c.61_63delinsTTT p.R21F Missense 2/13 - 1
4-72635113-CC-AT c.62_63delinsAT p.R21H Missense 2/13 - 2
4-72635113-CCG-GAT c.61_63delinsATC p.R21I Missense 2/13 - 1
4-72635114-CG-GC c.61_62delinsGC p.R21A Missense 2/13 - 1
4-72635111-T-TC c.64dup p.D22Gfs*3 Frameshift 2/13 - 1
4-72635114-C-A c.62G>T p.R21L Missense 2/13 - 3
4-72635114-C-T c.62G>A p.R21Q Missense 2/13 - 3
4-72635114-CG-TC c.61_62delinsGA p.R21E Missense 2/13 - 1
4-72635114-CG-TA c.61_62delinsTA p.R21* Nonsense 2/13 - 1
4-72635114-C-CACAG c.61_62insCTGT p.R21Pfs*5 Frameshift 2/13 - 1
4-72635114-CG-GT c.61_62delinsAC p.R21T Missense 2/13 - 1
4-72635115-G-GA c.60_61insT p.R21Sfs*4 SpliceAcceptorInsertion 2/13 - 1
4-72635115-G-GC c.60_61insG p.R21Afs*4 SpliceAcceptorInsertion 2/13 - 1
4-72635115-G-GT c.60_61insA p.R21Tfs*4 SpliceAcceptorInsertion 2/13 - 1
4-72635115-G-T c.61C>A p.R21= Synonymous 2/13 - 2
4-72635113-C-A c.63G>T p.R21= Synonymous 2/13 - 2
4-72635113-C-G c.63G>C p.R21= Synonymous 2/13 - 2
4-72635113-C-T c.63G>A p.R21= Synonymous 2/13 - 2
4-72635114-C-CG c.61dup p.R21Pfs*4 SpliceAcceptorInsertion 2/13 - 2
4-72635116-GC-CT c.59_60delinsAG p.G20E Missense 2/13 - 1
4-72635116-G-A c.60C>T p.G20= Synonymous 2/13 - 1
4-72635116-G-C c.60C>G p.G20= Synonymous 2/13 - 1
4-72635116-G-T c.60C>A p.G20= Synonymous 2/13 - 1
4-72635117-C-G c.59G>C p.G20A Missense 2/13 - 4
4-72635117-C-T c.59G>A p.G20D Missense 2/13 - 2
4-72635512-A-T c.59-395T>A - IntronicSNV - 1/12 2
4-72636272-C-T c.59-1155G>A - IntronicSNV - 1/12 29
4-72637080-A-G c.59-1963T>C - IntronicSNV - 1/12 1
4-72637080-A-T c.59-1963T>A - IntronicSNV - 1/12 1
4-72637344-C-T c.59-2227G>A - IntronicSNV - 1/12 1
4-72638824-C-A c.59-3707G>T - IntronicSNV - 1/12 8
4-72638824-C-T c.59-3707G>A - IntronicSNV - 1/12 8
4-72639002-G-A c.59-3885C>T - IntronicSNV - 1/12 1
4-72639002-G-C c.59-3885C>G - IntronicSNV - 1/12 1
4-72639282-C-T c.59-4165G>A - IntronicSNV - 1/12 1
4-72640443-T-G c.59-5326A>C - IntronicSNV - 1/12 1
4-72640750-T-C c.59-5633A>G - IntronicSNV - 1/12 1
4-72641279-T-C c.59-6162A>G - IntronicSNV - 1/12 3
4-72641506-A-G c.59-6389T>C - IntronicSNV - 1/12 2
4-72642954-T-C c.58+6724A>G - IntronicSNV - 1/12 5
4-72643488-T-A c.58+6190A>T - IntronicSNV - 1/12 74
4-72643488-T-C c.58+6190A>G - IntronicSNV - 1/12 74
4-72643760-A-T c.58+5918T>A - IntronicSNV - 1/12 1
4-72644962-G-A c.58+4716C>T - IntronicSNV - 1/12 9
4-72646441-G-A c.58+3237C>T - IntronicSNV - 1/12 2
4-72647749-C-T c.58+1929G>A - IntronicSNV - 1/12 11
4-72647762-A-G c.58+1916T>C - IntronicSNV - 1/12 4
4-72648851-A-G c.58+827T>C - IntronicSNV - 1/12 35
4-72648939-A-G c.58+739T>C - IntronicSNV - 1/12 1
4-72649048-A-G c.58+630T>C - IntronicSNV - 1/12 3
4-72649678-C-CG c.57_58insC p.G20Rfs*5 SpliceDonorInsertion 1/13 - 1
4-72649678-C-CA c.57_58insT p.G20Wfs*5 SpliceDonorInsertion 1/13 - 1
4-72649678-C-T c.58G>A p.G20S Missense 1/13 - 1
4-72649678-C-A c.58G>T p.G20C Missense 1/13 - 3
4-72649678-C-G c.58G>C p.G20R Missense 1/13 - 1
4-72649678-C-CT c.57dup p.G20Rfs*5 SpliceDonorInsertion 1/13 - 1
4-72649679-TCT-ACA c.55_57delinsTGT p.R19C Missense 1/13 - 1
4-72649677-CCTCTCTCTAAAGCATGTCCAAATG-C c.35_58del p.A12_R19del SpliceDonorDeletion 1/13 - 1
4-72649679-TCT-AAA c.55_57delinsTTT p.R19F Missense 1/13 - 1
4-72649679-T-C c.57A>G p.R19= Synonymous 1/13 - 1
4-72649681-T-G c.55A>C p.R19= Synonymous 1/13 - 1
4-72649680-CT-GC c.55_56delinsGC p.R19A Missense 1/13 - 3
4-72649680-TCTC-T c.54_56del p.R19del InFrameDeletion 1/13 - 1
4-72649680-CT-TC c.55_56delinsGA p.R19E Missense 1/13 - 1
4-72649680-CT-AG c.55_56inv p.R19L Missense 1/13 - 1
4-72649681-T-C c.55A>G p.R19G Missense 1/13 - 1
4-72649682-C-T c.54G>A p.E18= Synonymous 1/13 - 2
4-72649682-C-G c.54G>C p.E18D Missense 1/13 - 1
4-72649682-C-A c.54G>T p.E18D Missense 1/13 - 1
4-72649683-T-C c.53A>G p.E18G Missense 1/13 - 1
4-72649683-T-G c.53A>C p.E18A Missense 1/13 - 4
4-72649683-TC-GA c.52_53inv p.E18S Missense 1/13 - 2
4-72649683-TC-AT c.52_53delinsAT p.E18M Missense 1/13 - 1
4-72649683-TC-CT c.52_53delinsAG p.E18R Missense 1/13 - 2
4-72649683-TC-CA c.52_53delinsTG p.E18W Missense 1/13 - 1
4-72649683-T-TC c.52dup p.E18Gfs*7 Frameshift 1/13 - 1
4-72649684-C-G c.52G>C p.E18Q Missense 1/13 - 1
4-72649684-C-A c.52G>T p.E18* Nonsense 1/13 - 1
4-72649685-T-G c.51A>C p.L17F Missense 1/13 - 1
4-72649685-T-A c.51A>T p.L17F Missense 1/13 - 1
4-72649686-AA-TC c.49_50delinsGA p.L17E Missense 1/13 - 3
4-72649686-AA-GC c.49_50delinsGC p.L17A Missense 1/13 - 3
4-72649686-AA-CC c.49_50delinsGG p.L17G Missense 1/13 - 1
4-72649686-A-G c.50T>C p.L17S Missense 1/13 - 1
4-72649688-AGC-CCA c.46_48delinsTGG p.A16W Missense 1/13 - 1
4-72649688-A-T c.48T>A p.A16= Synonymous 1/13 - 5
4-72649688-A-G c.48T>C p.A16= Synonymous 1/13 - 5
4-72649688-A-C c.48T>G p.A16= Synonymous 1/13 - 5
4-72649688-AG-CT c.47_48inv p.A16E Missense 1/13 - 3
4-72649688-AGC-TTA c.46_48delinsTAA p.A16* Nonsense 1/13 - 1
4-72649689-GC-AA c.46_47delinsTT p.A16F Missense 1/13 - 3
4-72649689-G-A c.47C>T p.A16V Missense 1/13 - 5
4-72649689-GC-AG c.46_47delinsCT p.A16L Missense 1/13 - 1
4-72649689-G-T c.47C>A p.A16D Missense 1/13 - 6
4-72649689-GC-CA c.46_47delinsTG p.A16C Missense 1/13 - 6
4-72649689-G-C c.47C>G p.A16G Missense 1/13 - 1
4-72649689-GC-CG c.46_47delinsCG p.A16R Missense 1/13 - 1
4-72649687-AAGC-A c.46_48del p.A16del InFrameDeletion 1/13 - 1
4-72649690-GC-G c.46del p.A16Lfs*2 Frameshift 1/13 - 1
4-72649690-C-A c.46G>T p.A16S Missense 1/13 - 2
4-72649690-C-T c.46G>A p.A16T Missense 1/13 - 3
4-72649690-C-G c.46G>C p.A16P Missense 1/13 - 1
4-72649690-GCAT-G c.44_46del p.H15_A16delinsP MultiAAMissense 1/13 - 1
4-72649691-ATG-TTA c.43_45delinsTAA p.H15* Nonsense 1/13 - 1
4-72649691-ATG-CTC c.43_45delinsGAG p.H15E Missense 1/13 - 1
4-72649691-A-G c.45T>C p.H15= Synonymous 1/13 - 1
4-72649692-TG-GC c.43_44delinsGC p.H15A Missense 1/13 - 44
4-72649692-TG-CA c.43_44inv p.H15C Missense 1/13 - 21
4-72649692-T-A c.44A>T p.H15L Missense 1/13 - 1
4-72649692-T-G c.44A>C p.H15P Missense 1/13 - 1
4-72649690-CATGTCCAAATGCCACAGCA-C c.27_45del p.A10Lfs*2 Frameshift 1/13 - 1
4-72649692-TG-AA c.43_44delinsTT p.H15F Missense 1/13 - 1
4-72649692-T-C c.44A>G p.H15R Missense 1/13 - 1
4-72649693-G-C c.43C>G p.H15D Missense 1/13 - 5
4-72649693-G-T c.43C>A p.H15N Missense 1/13 - 1
4-72649694-TC-GT c.41_42delinsAC p.G14D Missense 1/13 - 1
4-72649694-TCC-ACA c.40_42delinsTGT p.G14C Missense 1/13 - 5
4-72649695-C-A c.41G>T p.G14V Missense 1/13 - 2
4-72649695-C-G c.41G>C p.G14A Missense 1/13 - 5
4-72649695-CC-GT c.40_41delinsAC p.G14T Missense 1/13 - 1
4-72649694-T-TC c.41dup p.H15Tfs*10 Frameshift 1/13 - 1
4-72649697-A-G c.39T>C p.F13= Synonymous 1/13 - 1
4-72649698-A-T c.38T>A p.F13Y Missense 1/13 - 1
4-72649698-AA-GC c.37_38delinsGC p.F13A Missense 1/13 - 11
4-72649698-AA-GG c.37_38delinsCC p.F13P Missense 1/13 - 1
4-72649698-AA-TG c.37_38delinsCA p.F13H Missense 1/13 - 1
4-72649699-A-C c.37T>G p.F13V Missense 1/13 - 2
4-72649699-A-G c.37T>C p.F13L Missense 1/13 - 2
4-72649697-A-T c.39T>A p.F13L Missense 1/13 - 2
4-72649697-A-C c.39T>G p.F13L Missense 1/13 - 2
4-72649700-TGC-AAA c.34_36delinsTTT p.A12F Missense 1/13 - 5
4-72649700-TGC-ACA c.34_36delinsTGT p.A12C Missense 1/13 - 4
4-72649700-T-G c.36A>C p.A12= Synonymous 1/13 - 12
4-72649700-T-C c.36A>G p.A12= Synonymous 1/13 - 12
4-72649700-T-A c.36A>T p.A12= Synonymous 1/13 - 12
4-72649700-TGC-GTT c.34_36delinsAAC p.A12N Missense 1/13 - 2
4-72649700-TG-GT c.35_36delinsAC p.A12D Missense 1/13 - 2
4-72649700-TGC-CCA c.34_36delinsTGG p.A12W Missense 1/13 - 1
4-72649700-TGC-ATG c.34_36delinsCAT p.A12H Missense 1/13 - 3
4-72649701-G-C c.35C>G p.A12G Missense 1/13 - 4
4-72649700-T-TG c.35dup p.F13Ifs*12 Frameshift 1/13 - 1
4-72649701-G-T c.35C>A p.A12E Missense 1/13 - 4
4-72649701-GC-AG c.34_35delinsCT p.A12L Missense 1/13 - 2
4-72649702-C-A c.34G>T p.A12S Missense 1/13 - 2
4-72649702-C-T c.34G>A p.A12T Missense 1/13 - 7
4-72649702-C-G c.34G>C p.A12P Missense 1/13 - 3
4-72649703-C-G c.33G>C p.V11= Synonymous 1/13 - 1
4-72649703-C-A c.33G>T p.V11= Synonymous 1/13 - 1
4-72649703-C-T c.33G>A p.V11= Synonymous 1/13 - 1
4-72649703-CAC-GAT c.31_33delinsATC p.V11I Missense 1/13 - 5
4-72649703-CAC-ATG c.31_33delinsCAT p.V11H Missense 1/13 - 1
4-72649704-AC-GT c.31_32inv p.V11T Missense 1/13 - 1
4-72649704-A-G c.32T>C p.V11A Missense 1/13 - 2
4-72649705-C-CG c.30_31insC p.V11Rfs*14 Frameshift 1/13 - 1
4-72649705-C-G c.31G>C p.V11L Missense 1/13 - 1
4-72649705-C-A c.31G>T p.V11L Missense 1/13 - 1
4-72649706-A-C c.30T>G p.A10= Synonymous 1/13 - 12
4-72649706-A-G c.30T>C p.A10= Synonymous 1/13 - 12
4-72649706-A-T c.30T>A p.A10= Synonymous 1/13 - 12
4-72649706-AG-CT c.29_30inv p.A10E Missense 1/13 - 9
4-72649706-AGC-TTG c.28_30delinsCAA p.A10Q Missense 1/13 - 1
4-72649706-AGC-TTA c.28_30delinsTAA p.A10* Nonsense 1/13 - 1
4-72649707-G-C c.29C>G p.A10G Missense 1/13 - 1
4-72649707-G-T c.29C>A p.A10D Missense 1/13 - 5
4-72649707-GC-AG c.28_29delinsCT p.A10L Missense 1/13 - 2
4-72649707-GC-CA c.28_29delinsTG p.A10C Missense 1/13 - 6
4-72649707-GC-TG c.28_29delinsCA p.A10H Missense 1/13 - 1
4-72649706-A-AG c.29dup p.V11Cfs*14 Frameshift 1/13 - 1
4-72649707-GC-AA c.28_29delinsTT p.A10F Missense 1/13 - 3
4-72649707-G-A c.29C>T p.A10V Missense 1/13 - 1
4-72649707-GC-AT c.28_29delinsAT p.A10I Missense 1/13 - 1
4-72649707-GC-TA c.28_29delinsTA p.A10Y Missense 1/13 - 1
4-72649704-ACAGCAAG-A c.25_31del p.L9Wfs*7 Frameshift 1/13 - 1
4-72649708-C-T c.28G>A p.A10T Missense 1/13 - 1
4-72649708-C-A c.28G>T p.A10S Missense 1/13 - 1
4-72649708-C-G c.28G>C p.A10P Missense 1/13 - 3
4-72649710-A-G c.26T>C p.L9P Missense 1/13 - 2
4-72649708-C-CA c.27dup p.A10Cfs*15 Frameshift 1/13 - 1
4-72649708-CA-C c.27del p.A10Lfs*8 Frameshift 1/13 - 1
4-72649710-A-AG c.25dup p.L9Pfs*16 Frameshift 1/13 - 1
4-72649711-G-A c.25C>T p.L9F Missense 1/13 - 1
4-72649714-G-GGC c.21_22insGC p.L8Afs*11 Frameshift 1/13 - 1
4-72649716-A-G c.20T>C p.L7P Missense 1/13 - 1
4-72649718-TAC-GTT c.16_18delinsAAC p.V6N Missense 1/13 - 1
4-72649718-T-G c.18A>C p.V6= Synonymous 1/13 - 1
4-72649718-T-C c.18A>G p.V6= Synonymous 1/13 - 1
4-72649718-T-A c.18A>T p.V6= Synonymous 1/13 - 1
4-72649719-TA-T c.17del p.V6Dfs*12 Frameshift 1/13 - 1
4-72649719-TACCAGGAC-T c.10_17del p.V4Tfs*18 Frameshift 1/13 - 1
4-72649720-C-T c.16G>A p.V6I Missense 1/13 - 2
4-72649718-TACC-T c.15_17del p.V6del InFrameDeletion 1/13 - 1
4-72649721-CAGGAC-G c.10_15delinsC p.V4Rfs*19 Frameshift 1/13 - 1
4-72649722-AG-GA c.13_14delinsTC p.L5S Missense 1/13 - 1
4-72649722-AG-A c.13del p.L5Wfs*13 Frameshift 1/13 - 1
4-72649724-G-T c.12C>A p.V4= Synonymous 1/13 - 4
4-72649724-G-C c.12C>G p.V4= Synonymous 1/13 - 4
4-72649724-G-A c.12C>T p.V4= Synonymous 1/13 - 4
4-72649725-AC-TT c.10_11delinsAA p.V4N Missense 1/13 - 2
4-72649726-C-T c.10G>A p.V4I Missense 1/13 - 4
4-72649727-C-T c.9G>A p.R3= Synonymous 1/13 - 14
4-72649729-T-G c.7A>C p.R3= Synonymous 1/13 - 13
4-72649727-C-CCAA c.8_9insTTG p.R3delinsSW MultiAAMissense 1/13 - 1
4-72649725-A-ACCCGG c.10_11insCCGGG p.V4Afs*16 Frameshift 1/13 - 1
4-72649730-C-T c.6G>A p.K2= Synonymous 1/13 - 17
4-72649733-TC-T c.3del p.M1? CdsStartDeletion 1/13 - 1
4-72649733-C-A c.3G>T p.M1? Missense 1/13 - 2
4-72649733-C-T c.3G>A p.M1? Missense 1/13 - 2
4-72649731-TTCA-T c.2_4del p.M1? CdsStartDeletion 1/13 - 1
4-72649734-A-T c.2T>A p.M1? Missense 1/13 - 2
4-72649734-A-G c.2T>C p.M1? Missense 1/13 - 2
4-72649734-A-C c.2T>G p.M1? Missense 1/13 - 1
4-72649735-T-G c.1A>C p.M1? Missense 1/13 - 1
4-72649735-T-C c.1A>G p.M1? Missense 1/13 - 1
4-72649774-G-A c.-39C>T - 5-UTRSNV 1/13 - 22