CLIP1

CLIP1 CAP-Gly domain containing linker protein 1

Annotation transcript: NM_001247997.2

1591 unique variant annotations were identified in 626 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
12-122756184-A-T c.*1238T>A - 3-UTRSNV 26/26 - 3
12-122756342-G-A c.*1080C>T - 3-UTRSNV 26/26 - 4
12-122756438-A-G c.*984T>C - 3-UTRSNV 26/26 - 1
12-122757380-C-T c.*42G>A - 3-UTRSNV 26/26 - 1
12-122757433-C-T c.4306G>A p.E1436K Missense 26/26 - 2
12-122757434-G-A c.4305C>T p.D1435= Synonymous 26/26 - 1
12-122757434-G-T c.4305C>A p.D1435E Missense 26/26 - 1
12-122757436-C-T c.4303G>A p.D1435N Missense 26/26 - 2
12-122757447-T-C c.4292A>G p.N1431S Missense 26/26 - 1
12-122757457-A-G c.4282T>C p.W1428R Missense 26/26 - 1
12-122757457-A-T c.4282T>A p.W1428R Missense 26/26 - 1
12-122757459-T-C c.4280A>G p.H1427R Missense 26/26 - 2
12-122757462-C-G c.4277G>C p.G1426A Missense 26/26 - 1
12-122757462-C-T c.4277G>A p.G1426E Missense 26/26 - 2
12-122757463-C-T c.4276G>A p.G1426R Missense 26/26 - 1
12-122757466-A-T c.4273T>A p.F1425I Missense 26/26 - 1
12-122757467-C-A c.4272G>T p.M1424I Missense 26/26 - 1
12-122757467-C-T c.4272G>A p.M1424I Missense 26/26 - 1
12-122757470-C-G c.4269G>C p.E1423D Missense 26/26 - 1
12-122757473-A-C c.4266T>G p.C1422W Missense 26/26 - 2
12-122757483-C-T c.4256G>A p.C1419Y Missense 26/26 - 1
12-122757488-T-C c.4251A>G p.P1417= Synonymous 26/26 - 1
12-122757492-C-T c.4247G>A p.R1416H Missense 26/26 - 3
12-122757493-G-A c.4246C>T p.R1416C Missense 26/26 - 4
12-122757504-C-T c.4235G>A p.R1412Q Missense 26/26 - 1
12-122757505-G-A c.4234C>T p.R1412W Missense 26/26 - 1
12-122757512-A-G c.4227T>C p.H1409= Synonymous 26/26 - 1
12-122757513-T-C c.4226A>G p.H1409R Missense 26/26 - 2
12-122757515-G-A c.4224C>T p.H1408= Synonymous 26/26 - 1
12-122757517-G-A c.4222C>T p.H1408Y Missense 26/26 - 3
12-122757527-G-A c.4212C>T p.P1404= Synonymous 26/26 - 1
12-122757531-G-A c.4208C>T p.P1403L Missense 26/26 - 1
12-122757535-C-G c.4204G>C p.D1402H Missense 26/26 - 1
12-122757540-G-A c.4199C>T p.S1400L Missense 26/26 - 3
12-122757541-A-G c.4198T>C p.S1400P Missense 26/26 - 1
12-122757542-C-T c.4197G>A p.M1399I Missense 26/26 - 1
12-122757554-G-T c.4185C>A p.T1395= Synonymous 26/26 - 2
12-122757555-G-A c.4184C>T p.T1395I Missense 26/26 - 2
12-122757558-G-A c.4181C>T p.P1394L Missense 26/26 - 1
12-122757559-G-A c.4180C>T p.P1394S Missense 26/26 - 1
12-122757561-AC-A c.4178del p.C1393Ffs*66 Frameshift 26/26 - 1
12-122757561-C-T c.4178G>A p.C1393Y Missense 26/26 - 1
12-122757566-C-T c.4173G>A p.E1391= Synonymous 26/26 - 3
12-122757568-C-A c.4171G>T p.E1391* Nonsense 26/26 - 1
12-122757568-C-G c.4171G>C p.E1391Q Missense 26/26 - 4
12-122757584-A-G c.4155T>C p.F1385= Synonymous 26/26 - 1
12-122757586-A-C c.4153T>G p.F1385V Missense 26/26 - 2
12-122757587-G-A c.4152C>T p.C1384= Synonymous 26/26 - 1
12-122757592-C-T c.4147G>A p.D1383N Missense 26/26 - 2
12-122757594-CAA-C c.4143_4144del p.I1381Mfs*2 Frameshift 26/26 - 1
12-122757598-T-A c.4141A>T p.I1381F Missense 26/26 - 1
12-122757600-T-C c.4139A>G p.D1380G Missense 26/26 - 1
12-122757601-C-G c.4138G>C p.D1380H Missense 26/26 - 1
12-122757604-A-G c.4135T>C p.C1379R Missense 26/26 - 2
12-122757608-G-A c.4131C>T p.L1377= Synonymous 26/26 - 1
12-122757611-G-C c.4128C>G p.R1376= Synonymous 26/26 - 1
12-122757612-C-T c.4127G>A p.R1376H Missense 26/26 - 6
12-122757621-T-C c.4118A>G p.K1373R Missense 26/26 - 1
12-122757631-G-A c.4108C>T p.Q1370* Nonsense 26/26 - 1
12-122757637-C-A c.4102G>T p.E1368* Nonsense 26/26 - 1
12-122758197-T-G c.4091+388A>C - IntronicSNV - 25/25 1
12-122758196-GT-G c.4091+388del - IntronicDeletion - 25/25 1
12-122758479-G-A c.4091+106C>T - IntronicSNV - 25/25 1
12-122758508-AC-A c.4091+76del - IntronicDeletion - 25/25 1
12-122758522-C-T c.4091+63G>A - IntronicSNV - 25/25 1
12-122758526-C-A c.4091+59G>T - IntronicSNV - 25/25 1
12-122758526-C-T c.4091+59G>A - IntronicSNV - 25/25 1
12-122758532-G-A c.4091+53C>T - IntronicSNV - 25/25 2
12-122758585-C-T c.4091G>A p.S1364N Missense 25/26 - 4
12-122758593-A-G c.4083T>C p.N1361= Synonymous 25/26 - 1
12-122758596-G-A c.4080C>T p.N1360= Synonymous 25/26 - 1
12-122758598-T-A c.4078A>T p.N1360Y Missense 25/26 - 1
12-122758610-C-A c.4066G>T p.G1356W Missense 25/26 - 2
12-122758610-C-G c.4066G>C p.G1356R Missense 25/26 - 1
12-122758610-C-T c.4066G>A p.G1356R Missense 25/26 - 3
12-122758611-G-A c.4065C>T p.N1355= Synonymous 25/26 - 1
12-122758611-G-C c.4065C>G p.N1355K Missense 25/26 - 1
12-122758611-G-T c.4065C>A p.N1355K Missense 25/26 - 1
12-122758614-C-A c.4062G>T p.G1354= Synonymous 25/26 - 1
12-122758614-C-G c.4062G>C p.G1354= Synonymous 25/26 - 1
12-122758614-C-T c.4062G>A p.G1354= Synonymous 25/26 - 1
12-122758616-C-A c.4060G>T p.G1354W Missense 25/26 - 2
12-122758620-C-A c.4056G>T p.L1352= Synonymous 25/26 - 1
12-122758620-C-G c.4056G>C p.L1352= Synonymous 25/26 - 2
12-122758620-C-T c.4056G>A p.L1352= Synonymous 25/26 - 1
12-122758622-G-A c.4054C>T p.L1352= Synonymous 25/26 - 2
12-122758625-C-T c.4051G>A p.A1351T Missense 25/26 - 2
12-122758630-T-G c.4046A>C p.E1349A Missense 25/26 - 1
12-122758632-T-C c.4044A>G p.S1348= Synonymous 25/26 - 1
12-122758633-G-C c.4043C>G p.S1348* Nonsense 25/26 - 1
12-122758643-C-G c.4033G>C p.E1345Q Missense 25/26 - 1
12-122758643-C-T c.4033G>A p.E1345K Missense 25/26 - 1
12-122758647-C-A c.4029G>T p.K1343N Missense 25/26 - 1
12-122758648-T-C c.4028A>G p.K1343R Missense 25/26 - 1
12-122758652-T-C c.4024A>G p.M1342V Missense 25/26 - 5
12-122758653-C-G c.4023G>C p.K1341N Missense 25/26 - 1
12-122758655-T-C c.4021A>G p.K1341E Missense 25/26 - 1
12-122758657-A-G c.4019T>C p.L1340P Missense 25/26 - 2
12-122758659-G-A c.4017C>T p.D1339= Synonymous 25/26 - 1
12-122758668-C-A c.4008G>T p.K1336N Missense 25/26 - 1
12-122758668-C-G c.4008G>C p.K1336N Missense 25/26 - 2
12-122758669-T-G c.4007A>C p.K1336T Missense 25/26 - 3
12-122758672-C-T c.4004G>A p.R1335K Missense 25/26 - 1
12-122758673-T-C c.4003A>G p.R1335G Missense 25/26 - 1
12-122758674-T-G c.4002A>C p.Q1334H Missense 25/26 - 1
12-122758675-T-G c.4001A>C p.Q1334P Missense 25/26 - 1
12-122758676-G-A c.4000C>T p.Q1334* Nonsense 25/26 - 1
12-122758690-A-G c.3986T>C p.V1329A Missense 25/26 - 1
12-122758693-G-A c.3983C>T p.S1328L Missense 25/26 - 3
12-122758701-G-A c.3975C>T p.F1325= Synonymous 25/26 - 1
12-122758707-A-G c.3969T>C p.I1323= Synonymous 25/26 - 1
12-122758720-A-ATTACCTGAGGAGCTGCTG c.3967-12_3967-11insCAGCAGCTCCTCAGGTAA - IntronicInsertion - 24/25 1
12-122758720-A-T c.3967-11T>A - IntronicSNV - 24/25 1
12-122760929-C-CCAAACACACACACA c.3966+1771_3966+1772insTGTGTGTGTGTTTG - IntronicInsertion - 24/25 1
12-122760955-G-A c.3966+1746C>T - IntronicSNV - 24/25 1
12-122762604-T-A c.3966+97A>T - IntronicSNV - 24/25 5
12-122762604-T-C c.3966+97A>G - IntronicSNV - 24/25 6
12-122762717-C-G c.3950G>C p.R1317T Missense 24/26 - 1
12-122762728-G-A c.3939C>T p.D1313= Synonymous 24/26 - 1
12-122762729-T-G c.3938A>C p.D1313A Missense 24/26 - 1
12-122762730-C-A c.3937G>T p.D1313Y Missense 24/26 - 1
12-122762730-C-T c.3937G>A p.D1313N Missense 24/26 - 1
12-122762733-C-G c.3934G>C p.A1312P Missense 24/26 - 1
12-122762736-G-C c.3931C>G p.Q1311E Missense 24/26 - 2
12-122762741-T-A c.3926A>T p.D1309V Missense 24/26 - 1
12-122762743-T-C c.3924A>G p.T1308= Synonymous 24/26 - 1
12-122762745-T-G c.3922A>C p.T1308P Missense 24/26 - 1
12-122762748-T-C c.3919A>G p.N1307D Missense 24/26 - 1
12-122762763-G-A c.3917-13C>T - IntronicSNV - 23/25 2
12-122762778-A-AAG c.3917-29_3917-28insCT - IntronicInsertion - 23/25 4
12-122763340-T-A c.3915A>T p.S1305= Synonymous 23/26 - 1
12-122763340-T-C c.3915A>G p.S1305= Synonymous 23/26 - 1
12-122763340-T-G c.3915A>C p.S1305= Synonymous 23/26 - 1
12-122763341-G-C c.3914C>G p.S1305* Nonsense 23/26 - 1
12-122763341-G-T c.3914C>A p.S1305* Nonsense 23/26 - 1
12-122763343-G-A c.3912C>T p.S1304= Synonymous 23/26 - 2
12-122763343-G-C c.3912C>G p.S1304= Synonymous 23/26 - 1
12-122763343-G-T c.3912C>A p.S1304= Synonymous 23/26 - 1
12-122763347-CT-GG c.3907_3908delinsCC p.S1303P Missense 23/26 - 1
12-122763349-G-A c.3906C>T p.S1302= Synonymous 23/26 - 1
12-122763360-T-A c.3895A>T p.R1299W Missense 23/26 - 1
12-122763362-T-G c.3893A>C p.K1298T Missense 23/26 - 1
12-122763373-G-A c.3882C>T p.L1294= Synonymous 23/26 - 1
12-122763373-G-C c.3882C>G p.L1294= Synonymous 23/26 - 1
12-122763373-G-T c.3882C>A p.L1294= Synonymous 23/26 - 2
12-122763378-G-A c.3877C>T p.Q1293* Nonsense 23/26 - 1
12-122763382-C-A c.3873G>T p.E1291D Missense 23/26 - 1
12-122763382-C-G c.3873G>C p.E1291D Missense 23/26 - 1
12-122763383-T-A c.3872A>T p.E1291V Missense 23/26 - 2
12-122763391-C-A c.3864G>T p.K1288N Missense 23/26 - 1
12-122763391-C-G c.3864G>C p.K1288N Missense 23/26 - 1
12-122763398-T-C c.3857A>G p.K1286R Missense 23/26 - 1
12-122763405-C-T c.3850G>A p.E1284K Missense 23/26 - 3
12-122763406-G-A c.3849C>T p.L1283= Synonymous 23/26 - 4
12-122763406-G-C c.3849C>G p.L1283= Synonymous 23/26 - 1
12-122763409-C-T c.3846G>A p.K1282= Synonymous 23/26 - 1
12-122763413-A-G c.3842T>C p.V1281A Missense 23/26 - 1
12-122763416-T-A c.3839A>T p.K1280M Missense 23/26 - 1
12-122763426-C-A c.3829G>T p.E1277* Nonsense 23/26 - 1
12-122763436-A-AGGGC c.3818_3819insGCCC p.Q1274Pfs*7 Frameshift 23/26 - 1
12-122763438-C-A c.3817G>T p.V1273F Missense 23/26 - 1
12-122763438-C-T c.3817G>A p.V1273I Missense 23/26 - 2
12-122763443-G-C c.3812C>G p.S1271* Nonsense 23/26 - 1
12-122763443-G-T c.3812C>A p.S1271* Nonsense 23/26 - 1
12-122763451-G-A c.3804C>T p.S1268= Synonymous 23/26 - 4
12-122763465-C-T c.3790G>A p.A1264T Missense 23/26 - 1
12-122763469-T-TGGGC c.3785_3786insGCCC p.N1263Pfs*18 Frameshift 23/26 - 1
12-122763473-C-G c.3782G>C p.G1261A Missense 23/26 - 1
12-122763489-C-A c.3766G>T p.V1256F Missense 23/26 - 1
12-122763489-C-T c.3766G>A p.V1256I Missense 23/26 - 4
12-122763577-C-T c.3763G>A p.E1255K Missense 22/26 - 3
12-122763582-CT-TG c.3757_3758delinsCA p.R1253Q Missense 22/26 - 2
12-122763584-TCA-T c.3755_3756del p.L1252Qfs*3 Frameshift 22/26 - 1
12-122763590-C-A c.3750G>T p.E1250D Missense 22/26 - 2
12-122763590-C-G c.3750G>C p.E1250D Missense 22/26 - 1
12-122763598-C-T c.3742G>A p.E1248K Missense 22/26 - 1
12-122763599-G-A c.3741C>T p.A1247= Synonymous 22/26 - 1
12-122763599-G-T c.3741C>A p.A1247= Synonymous 22/26 - 1
12-122763600-G-A c.3740C>T p.A1247V Missense 22/26 - 1
12-122763601-C-T c.3739G>A p.A1247T Missense 22/26 - 1
12-122763605-C-A c.3735G>T p.K1245N Missense 22/26 - 1
12-122763605-C-G c.3735G>C p.K1245N Missense 22/26 - 1
12-122763606-T-A c.3734A>T p.K1245M Missense 22/26 - 1
12-122763610-C-T c.3730G>A p.E1244K Missense 22/26 - 1
12-122763618-A-G c.3722T>C p.L1241S Missense 22/26 - 1
12-122763621-G-A c.3719C>T p.A1240V Missense 22/26 - 1
12-122763632-A-G c.3708T>C p.S1236= Synonymous 22/26 - 1
12-122763636-A-G c.3704T>C p.I1235T Missense 22/26 - 1
12-122763638-G-A c.3702C>T p.S1234= Synonymous 22/26 - 1
12-122763639-GA-TC c.3700_3701inv p.S1234D Missense 22/26 - 1
12-122763640-A-C c.3700T>G p.S1234A Missense 22/26 - 1
12-122763645-T-G c.3695A>C p.Q1232P Missense 22/26 - 1
12-122763648-A-T c.3692T>A p.L1231* Nonsense 22/26 - 1
12-122763650-G-A c.3690C>T p.S1230= Synonymous 22/26 - 1
12-122763650-G-C c.3690C>G p.S1230= Synonymous 22/26 - 1
12-122763650-G-T c.3690C>A p.S1230= Synonymous 22/26 - 1
12-122763658-T-TCGGG c.3681_3682insCCCG p.K1228Pfs*13 Frameshift 22/26 - 1
12-122763662-T-C c.3678A>G p.E1226= Synonymous 22/26 - 1
12-122763664-C-CA c.3675dup p.E1226* Nonsense 22/26 - 1
12-122763670-C-A c.3670G>T p.A1224S Missense 22/26 - 13
12-122763670-C-T c.3670G>A p.A1224T Missense 22/26 - 4
12-122763671-G-A c.3669C>T p.D1223= Synonymous 22/26 - 2
12-122763679-T-A c.3661A>T p.I1221L Missense 22/26 - 1
12-122763679-T-G c.3661A>C p.I1221L Missense 22/26 - 1
12-122763682-A-G c.3658T>C p.F1220L Missense 22/26 - 1
12-122763686-G-A c.3654C>T p.S1218= Synonymous 22/26 - 1
12-122763691-C-A c.3649G>T p.E1217* Nonsense 22/26 - 1
12-122769300-G-A c.3647+3736C>T - IntronicSNV - 21/25 1
12-122770402-GT-G c.3647+2633del - IntronicDeletion - 21/25 1
12-122772514-C-T c.3647+522G>A - IntronicSNV - 21/25 1
12-122773037-T-TA c.3645_3646insT p.R1216* SpliceDonorInsertion 21/26 - 3
12-122773037-T-TC c.3645_3646insG p.R1216Efs*11 SpliceDonorInsertion 21/26 - 3
12-122773037-T-TG c.3645_3646insC p.R1216Qfs*11 SpliceDonorInsertion 21/26 - 3
12-122773038-T-C c.3645A>G p.K1215= Synonymous 21/26 - 1
12-122773042-T-G c.3641A>C p.K1214T Missense 21/26 - 1
12-122773036-C-CT c.3646dup p.R1216Kfs*11 SpliceDonorInsertion 21/26 - 3
12-122773036-CT-C c.3646del p.R1216Efs*6 Frameshift 21/26 - 6
12-122773044-C-A c.3639G>T p.M1213I Missense 21/26 - 2
12-122773044-C-G c.3639G>C p.M1213I Missense 21/26 - 2
12-122773044-C-T c.3639G>A p.M1213I Missense 21/26 - 2
12-122773065-G-A c.3618C>T p.L1206= Synonymous 21/26 - 2
12-122773065-G-C c.3618C>G p.L1206= Synonymous 21/26 - 2
12-122773065-G-T c.3618C>A p.L1206= Synonymous 21/26 - 2
12-122773070-C-T c.3613G>A p.V1205M Missense 21/26 - 1
12-122773072-G-T c.3611C>A p.S1204Y Missense 21/26 - 1
12-122773075-C-G c.3608G>C p.R1203T Missense 21/26 - 1
12-122773079-C-T c.3604G>A p.E1202K Missense 21/26 - 1
12-122773082-C-T c.3601G>A p.E1201K Missense 21/26 - 4
12-122778891-C-A c.3595-5803G>T - IntronicSNV - 20/25 1
12-122780179-T-A c.3595-7091A>T - IntronicSNV - 20/25 1
12-122781897-G-A c.3595-8809C>T - IntronicSNV - 20/25 32
12-122781897-G-C c.3595-8809C>G - IntronicSNV - 20/25 32
12-122784054-G-T c.3594+10255C>A - IntronicSNV - 20/25 1
12-122788427-C-T c.3594+5882G>A - IntronicSNV - 20/25 1
12-122794305-T-C c.3594+4A>G - IntronicSNV - 20/25 1
12-122794305-T-G c.3594+4A>C - IntronicSNV - 20/25 1
12-122794310-T-C c.3593A>G p.K1198R Missense 20/26 - 1
12-122794315-A-G c.3588T>C p.H1196= Synonymous 20/26 - 1
12-122794317-G-A c.3586C>T p.H1196Y Missense 20/26 - 5
12-122794317-G-T c.3586C>A p.H1196N Missense 20/26 - 1
12-122794329-C-T c.3574G>A p.E1192K Missense 20/26 - 1
12-122794336-G-T c.3567C>A p.S1189R Missense 20/26 - 2
12-122794342-C-A c.3561G>T p.G1187= Synonymous 20/26 - 1
12-122794353-C-T c.3550G>A p.E1184K Missense 20/26 - 1
12-122794355-G-C c.3548C>G p.A1183G Missense 20/26 - 1
12-122794367-T-C c.3536A>G p.N1179S Missense 20/26 - 1
12-122794374-C-T c.3529G>A p.E1177K Missense 20/26 - 1
12-122794385-G-A c.3518C>T p.S1173L Missense 20/26 - 1
12-122794385-G-C c.3518C>G p.S1173* Nonsense 20/26 - 2
12-122794385-G-T c.3518C>A p.S1173* Nonsense 20/26 - 3
12-122794397-G-A c.3506C>T p.S1169F Missense 20/26 - 1
12-122794400-CTT-C c.3502_3503del p.K1168Vfs*13 Frameshift 20/26 - 2
12-122794401-T-TA c.3501_3502insT p.K1168* Nonsense 20/26 - 2
12-122794400-TTC-T c.3501_3502del p.K1168Vfs*13 Frameshift 20/26 - 2
12-122794404-G-A c.3499C>T p.Q1167* Nonsense 20/26 - 1
12-122794414-C-T c.3489G>A p.Q1163= Synonymous 20/26 - 1
12-122794418-TT-GC c.3484_3485delinsGC p.K1162A Missense 20/26 - 1
12-122794422-G-C c.3481C>G p.L1161V Missense 20/26 - 1
12-122794423-G-A c.3480C>T p.T1160= Synonymous 20/26 - 1
12-122794423-G-C c.3480C>G p.T1160= Synonymous 20/26 - 1
12-122794423-G-T c.3480C>A p.T1160= Synonymous 20/26 - 1
12-122794426-T-TTG c.3476_3477insCA p.E1159Dfs*4 Frameshift 20/26 - 1
12-122794532-C-T c.3474-103G>A - IntronicSNV - 19/25 1
12-122794685-A-C c.3474-256T>G - IntronicSNV - 19/25 1
12-122801300-C-A c.3469G>T p.E1157* Nonsense 19/26 - 2
12-122801308-A-C c.3461T>G p.F1154C Missense 19/26 - 1
12-122801317-AT-A c.3451del p.M1151Wfs*8 Frameshift 19/26 - 3
12-122801353-T-A c.3416A>T p.K1139I Missense 19/26 - 1
12-122801355-G-A c.3414C>T p.N1138= Synonymous 19/26 - 1
12-122801357-T-TA c.3411_3412insT p.N1138* Nonsense 19/26 - 2
12-122801360-G-A c.3409C>T p.L1137= Synonymous 19/26 - 1
12-122801361-C-T c.3408G>A p.E1136= Synonymous 19/26 - 1
12-122801363-C-A c.3406G>T p.E1136* Nonsense 19/26 - 1
12-122801365-T-C c.3404A>G p.E1135G Missense 19/26 - 1
12-122801369-C-T c.3400G>A p.V1134M Missense 19/26 - 1
12-122801370-A-AT c.3398dup p.N1133Kfs*23 Frameshift 19/26 - 1
12-122801384-T-G c.3385A>C p.N1129H Missense 19/26 - 1
12-122801387-C-A c.3382G>T p.E1128* Nonsense 19/26 - 1
12-122801417-G-A c.3367-15C>T - IntronicSNV - 18/25 1
12-122802641-T-C c.3366+1138A>G - IntronicSNV - 18/25 1
12-122803780-T-C c.3365A>G p.E1122G Missense 18/26 - 1
12-122803784-T-C c.3361A>G p.N1121D Missense 18/26 - 1
12-122803785-C-T c.3360G>A p.Q1120= Synonymous 18/26 - 1
12-122803791-T-A c.3354A>T p.K1118N Missense 18/26 - 2
12-122803791-T-G c.3354A>C p.K1118N Missense 18/26 - 2
12-122803799-T-G c.3346A>C p.N1116H Missense 18/26 - 1
12-122803802-T-C c.3343A>G p.T1115A Missense 18/26 - 2
12-122803809-G-A c.3336C>T p.T1112= Synonymous 18/26 - 1
12-122803809-G-C c.3336C>G p.T1112= Synonymous 18/26 - 1
12-122803809-G-T c.3336C>A p.T1112= Synonymous 18/26 - 1
12-122803822-G-A c.3323C>T p.S1108F Missense 18/26 - 3
12-122803826-C-A c.3319G>T p.A1107S Missense 18/26 - 1
12-122803835-C-T c.3310G>A p.E1104K Missense 18/26 - 1
12-122803845-T-C c.3300A>G p.K1100= Synonymous 18/26 - 1
12-122803851-C-A c.3294G>T p.M1098I Missense 18/26 - 1
12-122803851-C-G c.3294G>C p.M1098I Missense 18/26 - 1
12-122803851-C-T c.3294G>A p.M1098I Missense 18/26 - 2
12-122803860-C-T c.3285G>A p.M1095I Missense 18/26 - 1
12-122803861-A-G c.3284T>C p.M1095T Missense 18/26 - 1
12-122803864-A-T c.3281T>A p.I1094K Missense 18/26 - 1
12-122803866-C-G c.3279G>C p.Q1093H Missense 18/26 - 1
12-122803873-G-A c.3272C>T p.A1091V Missense 18/26 - 1
12-122803877-C-A c.3268G>T p.D1090Y Missense 18/26 - 1
12-122803880-C-T c.3265G>A p.E1089K Missense 18/26 - 3
12-122803882-G-A c.3263C>T p.A1088V Missense 18/26 - 3
12-122803892-C-A c.3253G>T p.A1085S Missense 18/26 - 1
12-122803892-C-T c.3253G>A p.A1085T Missense 18/26 - 1
12-122804034-A-G c.3250-139T>C - IntronicSNV - 17/25 3
12-122812401-T-C c.3249+93A>G - IntronicSNV - 17/25 1
12-122812476-T-G c.3249+18A>C - IntronicSNV - 17/25 1
12-122812503-G-A c.3240C>T p.D1080= Synonymous 17/26 - 1
12-122812503-G-C c.3240C>G p.D1080E Missense 17/26 - 40
12-122812503-G-T c.3240C>A p.D1080E Missense 17/26 - 5
12-122812505-C-T c.3238G>A p.D1080N Missense 17/26 - 2
12-122812506-G-A c.3237C>T p.A1079= Synonymous 17/26 - 1
12-122812506-G-C c.3237C>G p.A1079= Synonymous 17/26 - 1
12-122812506-G-T c.3237C>A p.A1079= Synonymous 17/26 - 1
12-122812507-G-C c.3236C>G p.A1079G Missense 17/26 - 1
12-122812510-T-C c.3233A>G p.Q1078R Missense 17/26 - 1
12-122812511-G-A c.3232C>T p.Q1078* Nonsense 17/26 - 1
12-122812511-G-T c.3232C>A p.Q1078K Missense 17/26 - 2
12-122812523-C-A c.3220G>T p.E1074* Nonsense 17/26 - 2
12-122812525-T-C c.3218A>G p.E1073G Missense 17/26 - 1
12-122812526-C-T c.3217G>A p.E1073K Missense 17/26 - 1
12-122812532-C-A c.3211G>T p.E1071* Nonsense 17/26 - 1
12-122812540-A-C c.3203T>G p.L1068W Missense 17/26 - 1
12-122812542-G-A c.3201C>T p.G1067= Synonymous 17/26 - 1
12-122812544-C-T c.3199G>A p.G1067S Missense 17/26 - 1
12-122812549-T-G c.3194A>C p.N1065T Missense 17/26 - 1
12-122812556-C-A c.3187G>T p.E1063* Nonsense 17/26 - 1
12-122812557-CC-AT c.3185_3186delinsAT p.R1062H Missense 17/26 - 1
12-122812558-C-A c.3185G>T p.R1062L Missense 17/26 - 1
12-122812558-CG-TA c.3184_3185delinsTA p.R1062* Nonsense 17/26 - 1
12-122812562-C-T c.3181G>A p.A1061T Missense 17/26 - 2
12-122812563-G-A c.3180C>T p.G1060= Synonymous 17/26 - 1
12-122812563-G-T c.3180C>A p.G1060= Synonymous 17/26 - 1
12-122812566-C-A c.3177G>T p.K1059N Missense 17/26 - 1
12-122812567-T-C c.3176A>G p.K1059R Missense 17/26 - 1
12-122812570-A-T c.3173T>A p.L1058Q Missense 17/26 - 1
12-122812573-T-C c.3170A>G p.K1057R Missense 17/26 - 1
12-122812584-G-A c.3159C>T p.D1053= Synonymous 17/26 - 1
12-122812587-C-A c.3156G>T p.L1052= Synonymous 17/26 - 3
12-122812587-C-G c.3156G>C p.L1052= Synonymous 17/26 - 3
12-122812587-C-T c.3156G>A p.L1052= Synonymous 17/26 - 3
12-122812589-G-A c.3154C>T p.L1052= Synonymous 17/26 - 3
12-122812600-T-C c.3143A>G p.Q1048R Missense 17/26 - 1
12-122812606-T-A c.3137A>T p.N1046I Missense 17/26 - 2
12-122812606-TTC-T c.3135_3136del p.N1046Pfs*58 Frameshift 17/26 - 1
12-122812619-C-A c.3124G>T p.E1042* Nonsense 17/26 - 1
12-122812620-T-C c.3123A>G p.E1041= Synonymous 17/26 - 1
12-122812622-C-T c.3121G>A p.E1041K Missense 17/26 - 1
12-122812625-G-T c.3118C>A p.H1040N Missense 17/26 - 1
12-122812630-G-C c.3113C>G p.T1038S Missense 17/26 - 1
12-122812631-T-A c.3112A>T p.T1038S Missense 17/26 - 1
12-122812636-G-T c.3107C>A p.T1036K Missense 17/26 - 1
12-122812637-T-C c.3106A>G p.T1036A Missense 17/26 - 1
12-122812638-C-T c.3105G>A p.E1035= Synonymous 17/26 - 3
12-122812640-C-G c.3103G>C p.E1035Q Missense 17/26 - 1
12-122812646-T-A c.3097A>T p.T1033S Missense 17/26 - 1
12-122812648-G-C c.3095C>G p.A1032G Missense 17/26 - 1
12-122812648-G-T c.3095C>A p.A1032D Missense 17/26 - 1
12-122812654-T-A c.3089A>T p.E1030V Missense 17/26 - 1
12-122812655-C-G c.3088G>C p.E1030Q Missense 17/26 - 1
12-122812663-G-A c.3080C>T p.A1027V Missense 17/26 - 1
12-122812671-C-T c.3072G>A p.E1024= Synonymous 17/26 - 2
12-122812674-C-T c.3069G>A p.Q1023= Synonymous 17/26 - 1
12-122812678-C-G c.3065G>C p.C1022S Missense 17/26 - 2
12-122812678-C-T c.3065G>A p.C1022Y Missense 17/26 - 2
12-122812682-G-A c.3061C>T p.Q1021* Nonsense 17/26 - 2
12-122812687-T-A c.3056A>T p.H1019L Missense 17/26 - 1
12-122812690-C-T c.3053G>A p.S1018N Missense 17/26 - 1
12-122812690-C-CTT c.3051_3052dup p.S1018Kfs*9 Frameshift 17/26 - 1
12-122812691-T-TA c.3051_3052insT p.S1018* Nonsense 17/26 - 2
12-122812690-C-CT c.3052dup p.S1018Kfs*13 Frameshift 17/26 - 5
12-122812690-C-CTTTTTTTCCTTT c.3052_3053insAAAGGAAAAAAA p.T1017_S1018insKRKK InFrameInsertion 17/26 - 1
12-122812693-G-T c.3050C>A p.T1017K Missense 17/26 - 4
12-122812695-TTCCA-T c.3044_3047del p.M1015Kfs*10 Frameshift 17/26 - 2
12-122812697-C-T c.3046G>A p.E1016K Missense 17/26 - 2
12-122812704-C-T c.3039G>A p.K1013= Synonymous 17/26 - 4
12-122812709-C-T c.3034G>A p.E1012K Missense 17/26 - 6
12-122812713-C-T c.3034-4G>A - IntronicSNV - 16/25 1
12-122812813-C-T c.3028G>A p.D1010N Missense 16/26 - 1
12-122812814-C-A c.3027G>T p.S1009= Synonymous 16/26 - 4
12-122812814-C-G c.3027G>C p.S1009= Synonymous 16/26 - 1
12-122812814-C-T c.3027G>A p.S1009= Synonymous 16/26 - 2
12-122812815-G-A c.3026C>T p.S1009L Missense 16/26 - 3
12-122812824-C-T c.3017G>A p.R1006K Missense 16/26 - 1
12-122812825-T-C c.3016A>G p.R1006G Missense 16/26 - 1
12-122812827-CTCCA-C c.3011_3014del p.L1004* Frameshift 16/26 - 1
12-122812828-C-T c.3013G>A p.E1005K Missense 16/26 - 3
12-122812829-C-G c.3012G>C p.L1004F Missense 16/26 - 1
12-122812829-C-T c.3012G>A p.L1004= Synonymous 16/26 - 2
12-122812834-C-G c.3007G>C p.E1003Q Missense 16/26 - 1
12-122812835-T-C c.3006A>G p.K1002= Synonymous 16/26 - 3
12-122812836-T-TA c.3004_3005insT p.K1002Ifs*29 Frameshift 16/26 - 1
12-122812838-C-A c.3003G>T p.K1001N Missense 16/26 - 1
12-122812838-C-G c.3003G>C p.K1001N Missense 16/26 - 1
12-122812839-T-C c.3002A>G p.K1001R Missense 16/26 - 1
12-122812841-T-C c.3000A>G p.E1000= Synonymous 16/26 - 1
12-122812845-T-A c.2996A>T p.E999V Missense 16/26 - 1
12-122812847-C-T c.2994G>A p.E998= Synonymous 16/26 - 1
12-122812858-T-C c.2983A>G p.K995E Missense 16/26 - 1
12-122812863-G-C c.2978C>G p.A993G Missense 16/26 - 1
12-122812867-C-A c.2974G>T p.E992* Nonsense 16/26 - 1
12-122812867-C-T c.2974G>A p.E992K Missense 16/26 - 2
12-122812869-T-C c.2972A>G p.Q991R Missense 16/26 - 1
12-122812871-C-A c.2970G>T p.Q990H Missense 16/26 - 1
12-122812875-CT-AG c.2965_2966inv p.S989L Missense 16/26 - 1
12-122812878-T-C c.2963A>G p.Q988R Missense 16/26 - 2
12-122812882-C-A c.2959G>T p.E987* Nonsense 16/26 - 1
12-122812885-C-T c.2956G>A p.A986T Missense 16/26 - 1
12-122812887-T-A c.2954A>T p.K985I Missense 16/26 - 1
12-122812887-T-C c.2954A>G p.K985R Missense 16/26 - 1
12-122812897-T-C c.2944A>G p.M982V Missense 16/26 - 1
12-122812900-C-T c.2941G>A p.D981N Missense 16/26 - 3
12-122812901-C-T c.2940G>A p.E980= Synonymous 16/26 - 1
12-122812903-C-A c.2938G>T p.E980* Nonsense 16/26 - 1
12-122812903-C-G c.2938G>C p.E980Q Missense 16/26 - 1
12-122812903-C-T c.2938G>A p.E980K Missense 16/26 - 1
12-122812908-C-G c.2933G>C p.S978T Missense 16/26 - 1
12-122812908-C-CT c.2932dup p.S978Kfs*3 Frameshift 16/26 - 1
12-122812918-G-A c.2923C>T p.L975= Synonymous 16/26 - 2
12-122812922-A-C c.2919T>G p.S973R Missense 16/26 - 1
12-122812922-A-T c.2919T>A p.S973R Missense 16/26 - 1
12-122812924-T-G c.2917A>C p.S973R Missense 16/26 - 1
12-122812923-C-G c.2918G>C p.S973T Missense 16/26 - 1
12-122812927-C-G c.2914G>C p.A972P Missense 16/26 - 1
12-122812930-T-TA c.2910_2911insT p.N971* Nonsense 16/26 - 1
12-122812930-TTTCA-T c.2907_2910del p.N969Kfs*13 Frameshift 16/26 - 1
12-122812933-C-T c.2908G>A p.E970K Missense 16/26 - 3
12-122812938-G-C c.2903C>G p.A968G Missense 16/26 - 1
12-122812940-C-T c.2901G>A p.K967= Synonymous 16/26 - 3
12-122812951-T-C c.2890A>G p.K964E Missense 16/26 - 1
12-122812953-A-T c.2888T>A p.L963Q Missense 16/26 - 1
12-122812957-G-A c.2884C>T p.Q962* Nonsense 16/26 - 1
12-122812965-T-C c.2876A>G p.E959G Missense 16/26 - 1
12-122814691-G-A c.2868-1718C>T - IntronicSNV - 15/25 1
12-122814691-G-C c.2868-1718C>G - IntronicSNV - 15/25 1
12-122817507-A-G c.2867+27T>C - IntronicSNV - 15/25 8
12-122817507-A-T c.2867+27T>A - IntronicSNV - 15/25 8
12-122817534-C-T c.2867G>A p.R956K Missense 15/26 - 1
12-122817546-C-A c.2855G>T p.R952L Missense 15/26 - 1
12-122817548-T-A c.2853A>T p.L951F Missense 15/26 - 1
12-122817556-C-A c.2845G>T p.D949Y Missense 15/26 - 1
12-122817556-C-T c.2845G>A p.D949N Missense 15/26 - 3
12-122817561-A-C c.2840T>G p.M947R Missense 15/26 - 4
12-122817562-T-C c.2839A>G p.M947V Missense 15/26 - 1
12-122817568-T-C c.2833A>G p.T945A Missense 15/26 - 1
12-122817570-A-G c.2831T>C p.L944P Missense 15/26 - 1
12-122817571-G-C c.2830C>G p.L944V Missense 15/26 - 1
12-122817572-C-T c.2829G>A p.Q943= Synonymous 15/26 - 1
12-122817576-G-C c.2825C>G p.S942C Missense 15/26 - 1
12-122817580-A-G c.2821T>C p.S941P Missense 15/26 - 24
12-122817581-G-C c.2820C>G p.N940K Missense 15/26 - 1
12-122817587-TC-T c.2813del p.G938Efs*7 Frameshift 15/26 - 1
12-122817593-C-T c.2808G>A p.M936I Missense 15/26 - 1
12-122817594-A-C c.2807T>G p.M936R Missense 15/26 - 4
12-122817594-A-G c.2807T>C p.M936T Missense 15/26 - 1
12-122817609-G-A c.2792C>T p.A931V Missense 15/26 - 1
12-122817610-C-A c.2791G>T p.A931S Missense 15/26 - 1
12-122817616-C-T c.2785G>A p.D929N Missense 15/26 - 1
12-122817625-G-C c.2776C>G p.L926V Missense 15/26 - 1
12-122817644-C-A c.2757G>T p.L919= Synonymous 15/26 - 1
12-122817644-C-G c.2757G>C p.L919= Synonymous 15/26 - 1
12-122817644-C-T c.2757G>A p.L919= Synonymous 15/26 - 1
12-122817646-G-A c.2755C>T p.L919= Synonymous 15/26 - 1
12-122817655-C-G c.2746G>C p.E916Q Missense 15/26 - 1
12-122817673-T-C c.2728A>G p.R910G Missense 15/26 - 1
12-122817687-A-G c.2714T>C p.M905T Missense 15/26 - 2
12-122817797-C-T c.2711-107G>A - IntronicSNV - 14/25 2
12-122818480-G-C c.2710+94C>G - IntronicSNV - 14/25 1
12-122818585-T-C c.2699A>G p.E900G Missense 14/26 - 1
12-122818586-C-G c.2698G>C p.E900Q Missense 14/26 - 2
12-122818594-T-G c.2690A>C p.K897T Missense 14/26 - 1
12-122818599-C-T c.2685G>A p.L895= Synonymous 14/26 - 1
12-122818601-A-G c.2683T>C p.L895= Synonymous 14/26 - 1
12-122818602-G-C c.2682C>G p.D894E Missense 14/26 - 1
12-122818600-AAGTC-A c.2680_2683del p.D894Wfs*4 Frameshift 14/26 - 1
12-122818604-C-T c.2680G>A p.D894N Missense 14/26 - 1
12-122818605-A-C c.2679T>G p.S893= Synonymous 14/26 - 1
12-122818605-A-G c.2679T>C p.S893= Synonymous 14/26 - 2
12-122818605-A-T c.2679T>A p.S893= Synonymous 14/26 - 1
12-122818611-C-A c.2673G>T p.L891= Synonymous 14/26 - 1
12-122818611-C-G c.2673G>C p.L891= Synonymous 14/26 - 1
12-122818611-C-T c.2673G>A p.L891= Synonymous 14/26 - 2
12-122818613-G-A c.2671C>T p.L891= Synonymous 14/26 - 1
12-122818633-T-C c.2651A>G p.K884R Missense 14/26 - 1
12-122818640-G-A c.2644C>T p.H882Y Missense 14/26 - 1
12-122818642-AA-GG c.2641_2642delinsCC p.L881P Missense 14/26 - 1
12-122818655-T-C c.2629A>G p.T877A Missense 14/26 - 1
12-122819018-T-C c.2626+177A>G - IntronicSNV - 13/25 1
12-122819155-AT-A c.2626+39del - IntronicDeletion - 13/25 1
12-122819194-C-T c.2626+1G>A - IntronicSNV - 13/25 1
12-122819202-A-T c.2619T>A p.S873R Missense 13/26 - 1
12-122819203-C-T c.2618G>A p.S873N Missense 13/26 - 1
12-122819213-C-T c.2608G>A p.V870I Missense 13/26 - 1
12-122819223-C-T c.2598G>A p.E866= Synonymous 13/26 - 1
12-122819224-T-A c.2597A>T p.E866V Missense 13/26 - 2
12-122819225-C-T c.2596G>A p.E866K Missense 13/26 - 1
12-122819228-C-T c.2593G>A p.E865K Missense 13/26 - 2
12-122819234-C-A c.2587G>T p.A863S Missense 13/26 - 1
12-122819241-A-C c.2580T>G p.F860L Missense 13/26 - 1
12-122819246-T-C c.2575A>G p.K859E Missense 13/26 - 1
12-122819249-C-T c.2572G>A p.E858K Missense 13/26 - 2
12-122819566-C-T c.2569-314G>A - IntronicSNV - 12/25 1
12-122821180-A-G c.2567T>C p.L856S Missense 12/26 - 1
12-122821184-T-G c.2563A>C p.I855L Missense 12/26 - 1
12-122821194-T-A c.2553A>T p.K851N Missense 12/26 - 1
12-122821194-T-G c.2553A>C p.K851N Missense 12/26 - 1
12-122821197-T-C c.2550A>G p.E850= Synonymous 12/26 - 1
12-122821193-CT-C c.2553del p.E852Nfs*5 Frameshift 12/26 - 1
12-122821199-C-G c.2548G>C p.E850Q Missense 12/26 - 1
12-122821204-G-T c.2543C>A p.T848N Missense 12/26 - 1
12-122821205-T-C c.2542A>G p.T848A Missense 12/26 - 1
12-122821208-C-T c.2539G>A p.E847K Missense 12/26 - 1
12-122821213-A-C c.2534T>G p.V845G Missense 12/26 - 1
12-122821213-A-G c.2534T>C p.V845A Missense 12/26 - 1
12-122821217-G-C c.2530C>G p.Q844E Missense 12/26 - 1
12-122821223-C-T c.2524G>A p.V842I Missense 12/26 - 1
12-122821227-CA-C c.2520del p.S840Rfs*6 Frameshift 12/26 - 1
12-122821234-T-C c.2513A>G p.N838S Missense 12/26 - 1
12-122821235-T-C c.2512A>G p.N838D Missense 12/26 - 1
12-122821236-T-C c.2511A>G p.E837= Synonymous 12/26 - 1
12-122821238-C-A c.2509G>T p.E837* Nonsense 12/26 - 2
12-122821241-G-A c.2506C>T p.Q836* Nonsense 12/26 - 1
12-122821244-G-A c.2503C>T p.L835F Missense 12/26 - 1
12-122821245-G-A c.2502C>T p.N834= Synonymous 12/26 - 2
12-122821262-C-T c.2485G>A p.E829K Missense 12/26 - 1
12-122821263-TCT-ACA c.2482_2484delinsTGT p.R828C Missense 12/26 - 1
12-122821266-C-A c.2481G>T p.G827= Synonymous 12/26 - 2
12-122821266-CCC-GCT c.2479_2481delinsAGC p.G827S Missense 12/26 - 1
12-122821266-C-G c.2481G>C p.G827= Synonymous 12/26 - 1
12-122821266-C-T c.2481G>A p.G827= Synonymous 12/26 - 1
12-122821267-C-G c.2480G>C p.G827A Missense 12/26 - 1
12-122821269-C-A c.2478G>T p.Q826H Missense 12/26 - 1
12-122821269-C-G c.2478G>C p.Q826H Missense 12/26 - 2
12-122821269-C-T c.2478G>A p.Q826= Synonymous 12/26 - 1
12-122821273-A-G c.2474T>C p.L825P Missense 12/26 - 1
12-122821273-AG-CT c.2473_2474inv p.L825S Missense 12/26 - 2
12-122821274-G-A c.2473C>T p.L825F Missense 12/26 - 4
12-122821277-C-T c.2470G>A p.E824K Missense 12/26 - 1
12-122821291-CT-GG c.2455_2456delinsCC p.S819P Missense 12/26 - 3
12-122821295-C-T c.2452G>A p.A818T Missense 12/26 - 1
12-122825298-A-G c.2451+2T>C - IntronicSNV - 11/25 1
12-122825299-C-A c.2451+1G>T - IntronicSNV - 11/25 1
12-122825305-T-C c.2446A>G p.S816G Missense 11/26 - 2
12-122825314-C-G c.2437G>C p.A813P Missense 11/26 - 1
12-122825314-C-T c.2437G>A p.A813T Missense 11/26 - 1
12-122825318-C-A c.2433G>T p.K811N Missense 11/26 - 3
12-122825318-C-G c.2433G>C p.K811N Missense 11/26 - 2
12-122825320-T-A c.2431A>T p.K811* Nonsense 11/26 - 1
12-122825324-A-G c.2427T>C p.I809= Synonymous 11/26 - 2
12-122825324-A-T c.2427T>A p.I809= Synonymous 11/26 - 2
12-122825325-A-G c.2426T>C p.I809T Missense 11/26 - 1
12-122825327-C-A c.2424G>T p.E808D Missense 11/26 - 1
12-122825327-C-T c.2424G>A p.E808= Synonymous 11/26 - 1
12-122825335-G-A c.2416C>T p.H806Y Missense 11/26 - 1
12-122825339-A-C c.2412T>G p.I804M Missense 11/26 - 1
12-122825349-T-C c.2402A>G p.E801G Missense 11/26 - 1
12-122825349-T-G c.2402A>C p.E801A Missense 11/26 - 1
12-122825352-G-T c.2399C>A p.A800D Missense 11/26 - 1
12-122825353-C-A c.2398G>T p.A800S Missense 11/26 - 1
12-122825356-C-A c.2395G>T p.A799S Missense 11/26 - 2
12-122825359-C-G c.2392G>C p.E798Q Missense 11/26 - 1
12-122825362-G-C c.2389C>G p.L797V Missense 11/26 - 1
12-122825371-T-C c.2380A>G p.R794G Missense 11/26 - 2
12-122825374-G-A c.2377C>T p.L793F Missense 11/26 - 1
12-122825388-G-A c.2363C>T p.S788L Missense 11/26 - 3
12-122825389-A-G c.2362T>C p.S788P Missense 11/26 - 2
12-122825396-T-C c.2355A>G p.E785= Synonymous 11/26 - 1
12-122825398-C-A c.2353G>T p.E785* Nonsense 11/26 - 4
12-122825398-C-T c.2353G>A p.E785K Missense 11/26 - 8
12-122825404-T-C c.2347A>G p.S783G Missense 11/26 - 1
12-122825410-T-TA c.2340_2341insT p.K781* Nonsense 11/26 - 1
12-122825412-C-A c.2339G>T p.R780L Missense 11/26 - 1
12-122825412-C-T c.2339G>A p.R780Q Missense 11/26 - 1
12-122825411-C-A c.2340G>T p.R780= Synonymous 11/26 - 1
12-122825411-C-G c.2340G>C p.R780= Synonymous 11/26 - 1
12-122825411-C-T c.2340G>A p.R780= Synonymous 11/26 - 1
12-122825413-G-A c.2338C>T p.R780W Missense 11/26 - 4
12-122825413-G-T c.2338C>A p.R780= Synonymous 11/26 - 1
12-122825425-G-A c.2326C>T p.L776F Missense 11/26 - 1
12-122825429-C-T c.2322G>A p.L774= Synonymous 11/26 - 1
12-122825431-A-G c.2320T>C p.L774= Synonymous 11/26 - 1
12-122825432-G-A c.2319C>T p.L773= Synonymous 11/26 - 5
12-122825432-G-C c.2319C>G p.L773= Synonymous 11/26 - 4
12-122825432-G-T c.2319C>A p.L773= Synonymous 11/26 - 4
12-122825433-A-G c.2318T>C p.L773P Missense 11/26 - 2
12-122825434-G-A c.2317C>T p.L773F Missense 11/26 - 3
12-122825434-G-C c.2317C>G p.L773V Missense 11/26 - 1
12-122825439-T-C c.2312A>G p.E771G Missense 11/26 - 1
12-122825445-G-T c.2306C>A p.T769N Missense 11/26 - 1
12-122825448-G-A c.2303C>T p.A768V Missense 11/26 - 2
12-122825453-G-A c.2298C>T p.L766= Synonymous 11/26 - 1
12-122825453-G-C c.2298C>G p.L766= Synonymous 11/26 - 1
12-122825453-G-T c.2298C>A p.L766= Synonymous 11/26 - 1
12-122825460-GA-CT c.2290_2291delinsAG p.S764R Missense 11/26 - 1
12-122825462-T-A c.2289A>T p.T763= Synonymous 11/26 - 3
12-122825462-T-C c.2289A>G p.T763= Synonymous 11/26 - 6
12-122825462-T-G c.2289A>C p.T763= Synonymous 11/26 - 3
12-122825471-A-G c.2280T>C p.D760= Synonymous 11/26 - 1
12-122825473-C-G c.2278G>C p.D760H Missense 11/26 - 1
12-122825478-A-T c.2273T>A p.V758D Missense 11/26 - 1
12-122825512-C-A c.2239G>T p.V747L Missense 11/26 - 1
12-122825520-T-A c.2231A>T p.E744V Missense 11/26 - 1
12-122825524-T-TA c.2226_2227insT p.K743* Nonsense 11/26 - 1
12-122825536-C-T c.2215G>A p.E739K Missense 11/26 - 7
12-122825546-T-TC c.2204_2205insG p.Q736Tfs*4 Frameshift 11/26 - 1
12-122825558-C-A c.2193G>T p.T731= Synonymous 11/26 - 1
12-122825558-C-G c.2193G>C p.T731= Synonymous 11/26 - 1
12-122825558-C-T c.2193G>A p.T731= Synonymous 11/26 - 2
12-122825559-G-A c.2192C>T p.T731M Missense 11/26 - 1
12-122825566-C-G c.2185G>C p.E729Q Missense 11/26 - 1
12-122825566-C-T c.2185G>A p.E729K Missense 11/26 - 1
12-122825568-A-G c.2183T>C p.M728T Missense 11/26 - 5
12-122825572-C-G c.2179G>C p.E727Q Missense 11/26 - 1
12-122825575-C-T c.2176G>A p.V726I Missense 11/26 - 1
12-122825579-A-AC c.2171_2172insG p.H724Qfs*16 Frameshift 11/26 - 1
12-122825601-A-G c.2150T>C p.L717P Missense 11/26 - 2
12-122825609-C-A c.2142G>T p.R714S Missense 11/26 - 1
12-122825613-A-G c.2138T>C p.I713T Missense 11/26 - 1
12-122825614-AT-A c.2137del p.I713Sfs*14 Frameshift 11/26 - 1
12-122825619-T-C c.2132A>G p.E711G Missense 11/26 - 1
12-122825623-G-T c.2128C>A p.L710M Missense 11/26 - 1
12-122825628-T-C c.2123A>G p.N708S Missense 11/26 - 1
12-122825629-T-G c.2122A>C p.N708H Missense 11/26 - 1
12-122825631-T-C c.2120A>G p.E707G Missense 11/26 - 1
12-122825632-C-G c.2119G>C p.E707Q Missense 11/26 - 1
12-122825632-C-T c.2119G>A p.E707K Missense 11/26 - 3
12-122825636-T-A c.2115A>T p.E705D Missense 11/26 - 1
12-122825640-T-G c.2111A>C p.K704T Missense 11/26 - 1
12-122825654-C-T c.2097G>A p.L699= Synonymous 11/26 - 1
12-122825670-G-A c.2081C>T p.A694V Missense 11/26 - 1
12-122825670-G-T c.2081C>A p.A694D Missense 11/26 - 1
12-122825674-C-G c.2077G>C p.E693Q Missense 11/26 - 1
12-122825674-C-T c.2077G>A p.E693K Missense 11/26 - 3
12-122825680-CTT-C c.2069_2070del p.K690Rfs*8 Frameshift 11/26 - 1
12-122825683-T-C c.2068A>G p.K690E Missense 11/26 - 1
12-122825684-A-AC c.2066_2067insG p.K690* Nonsense 11/26 - 1
12-122825686-C-A c.2065G>T p.A689S Missense 11/26 - 1
12-122825691-G-A c.2060C>T p.A687V Missense 11/26 - 1
12-122825696-CCG-GAT c.2053_2055delinsATC p.R685I Missense 11/26 - 1
12-122825707-C-T c.2044G>A p.D682N Missense 11/26 - 2
12-122825718-T-C c.2033A>G p.Q678R Missense 11/26 - 1
12-122825725-T-G c.2026A>C p.N676H Missense 11/26 - 1
12-122825728-C-A c.2023G>T p.E675* Nonsense 11/26 - 3
12-122825729-T-C c.2022A>G p.I674M Missense 11/26 - 1
12-122825734-C-T c.2017G>A p.E673K Missense 11/26 - 5
12-122825735-G-T c.2016C>A p.H672Q Missense 11/26 - 1
12-122825740-G-A c.2011C>T p.Q671* Nonsense 11/26 - 1
12-122825750-T-A c.2001A>T p.R667S Missense 11/26 - 1
12-122825750-T-C c.2001A>G p.R667= Synonymous 11/26 - 1
12-122825750-T-G c.2001A>C p.R667S Missense 11/26 - 1
12-122825752-T-G c.1999A>C p.R667= Synonymous 11/26 - 1
12-122825754-A-C c.1997T>G p.M666R Missense 11/26 - 1
12-122825759-C-A c.1992G>T p.E664D Missense 11/26 - 1
12-122825769-G-A c.1982C>T p.T661I Missense 11/26 - 2
12-122825770-T-C c.1981A>G p.T661A Missense 11/26 - 1
12-122825772-T-C c.1979A>G p.K660R Missense 11/26 - 1
12-122825781-G-A c.1970C>T p.A657V Missense 11/26 - 1
12-122825781-G-T c.1970C>A p.A657D Missense 11/26 - 1
12-122825788-C-A c.1963G>T p.E655* Nonsense 11/26 - 1
12-122825786-TTCTGCCGTC-T c.1956_1964del p.T653_E655del InFrameDeletion 11/26 - 1
12-122825792-C-A c.1959G>T p.T653= Synonymous 11/26 - 1
12-122825792-C-G c.1959G>C p.T653= Synonymous 11/26 - 1
12-122825792-C-T c.1959G>A p.T653= Synonymous 11/26 - 1
12-122825793-G-A c.1958C>T p.T653M Missense 11/26 - 3
12-122825795-C-A c.1956G>T p.E652D Missense 11/26 - 1
12-122825795-C-G c.1956G>C p.E652D Missense 11/26 - 1
12-122825796-T-C c.1955A>G p.E652G Missense 11/26 - 1
12-122825802-C-T c.1949G>A p.G650E Missense 11/26 - 1
12-122825806-G-C c.1945C>G p.L649V Missense 11/26 - 1
12-122825806-G-T c.1945C>A p.L649I Missense 11/26 - 1
12-122825809-C-A c.1942G>T p.G648W Missense 11/26 - 2
12-122825811-T-G c.1940A>C p.K647T Missense 11/26 - 1
12-122825820-G-T c.1931C>A p.S644Y Missense 11/26 - 1
12-122825822-TAC-CAT c.1927_1929delinsATG p.V643M Missense 11/26 - 1
12-122825831-T-A c.1920A>T p.E640D Missense 11/26 - 1
12-122825831-T-G c.1920A>C p.E640D Missense 11/26 - 1
12-122825835-T-G c.1916A>C p.E639A Missense 11/26 - 1
12-122825839-T-C c.1912A>G p.M638V Missense 11/26 - 1
12-122825841-G-A c.1910C>T p.A637V Missense 11/26 - 2
12-122825841-G-T c.1910C>A p.A637E Missense 11/26 - 2
12-122825841-G-GCATCCCA c.1909_1910insTGGGATG p.A637Vfs*24 Frameshift 11/26 - 1
12-122825844-T-A c.1907A>T p.Q636L Missense 11/26 - 1
12-122825847-CTGGTGGG-C c.1898_1904del p.S633Cfs*7 Frameshift 11/26 - 1
12-122825848-G-C c.1903C>G p.Q635E Missense 11/26 - 1
12-122825851-G-A c.1900C>T p.H634Y Missense 11/26 - 1
12-122825852-G-A c.1899C>T p.S633= Synonymous 11/26 - 1
12-122825852-G-C c.1899C>G p.S633= Synonymous 11/26 - 1
12-122825852-G-T c.1899C>A p.S633= Synonymous 11/26 - 1
12-122825857-C-T c.1894G>A p.A632T Missense 11/26 - 2
12-122825858-G-A c.1893C>T p.I631= Synonymous 11/26 - 2
12-122825858-G-T c.1893C>A p.I631= Synonymous 11/26 - 2
12-122825863-C-G c.1888G>C p.A630P Missense 11/26 - 1
12-122825864-A-G c.1887T>C p.T629= Synonymous 11/26 - 1
12-122825867-C-A c.1884G>T p.E628D Missense 11/26 - 1
12-122825867-C-G c.1884G>C p.E628D Missense 11/26 - 1
12-122825868-T-C c.1883A>G p.E628G Missense 11/26 - 1
12-122825877-G-A c.1874C>T p.S625F Missense 11/26 - 2
12-122825885-T-A c.1866A>T p.L622= Synonymous 11/26 - 1
12-122825885-T-C c.1866A>G p.L622= Synonymous 11/26 - 1
12-122825885-T-G c.1866A>C p.L622= Synonymous 11/26 - 1
12-122825887-G-A c.1864C>T p.L622= Synonymous 11/26 - 1
12-122825886-A-T c.1865T>A p.L622Q Missense 11/26 - 3
12-122825892-A-G c.1859T>C p.I620T Missense 11/26 - 1
12-122825898-T-A c.1853A>T p.D618V Missense 11/26 - 1
12-122825899-C-T c.1852G>A p.D618N Missense 11/26 - 3
12-122825900-T-G c.1851A>C p.S617= Synonymous 11/26 - 1
12-122825901-G-C c.1850C>G p.S617* Nonsense 11/26 - 1
12-122825901-G-T c.1850C>A p.S617* Nonsense 11/26 - 1
12-122825903-G-A c.1848C>T p.N616= Synonymous 11/26 - 1
12-122825903-G-C c.1848C>G p.N616K Missense 11/26 - 1
12-122825903-G-T c.1848C>A p.N616K Missense 11/26 - 1
12-122825906-C-A c.1845G>T p.E615D Missense 11/26 - 3
12-122825906-C-G c.1845G>C p.E615D Missense 11/26 - 2
12-122825918-A-C c.1833T>G p.H611Q Missense 11/26 - 1
12-122825918-A-T c.1833T>A p.H611Q Missense 11/26 - 1
12-122825921-C-T c.1830G>A p.E610= Synonymous 11/26 - 1
12-122825924-C-A c.1827G>T p.L609= Synonymous 11/26 - 1
12-122825924-C-G c.1827G>C p.L609= Synonymous 11/26 - 1
12-122825924-C-T c.1827G>A p.L609= Synonymous 11/26 - 1
12-122825926-G-A c.1825C>T p.L609= Synonymous 11/26 - 2
12-122825934-T-C c.1817A>G p.K606R Missense 11/26 - 1
12-122825935-T-TA c.1815_1816insT p.K606* Nonsense 11/26 - 1
12-122825940-G-A c.1811C>T p.S604L Missense 11/26 - 3
12-122825941-A-G c.1810T>C p.S604P Missense 11/26 - 2
12-122825944-C-T c.1807G>A p.E603K Missense 11/26 - 4
12-122825945-G-A c.1806C>T p.N602= Synonymous 11/26 - 4
12-122825948-C-T c.1803G>A p.E601= Synonymous 11/26 - 3
12-122825950-C-T c.1801G>A p.E601K Missense 11/26 - 2
12-122825952-T-G c.1799A>C p.K600T Missense 11/26 - 1
12-122825959-G-C c.1792C>G p.L598V Missense 11/26 - 1
12-122825961-T-C c.1790A>G p.K597R Missense 11/26 - 1
12-122825962-T-C c.1789A>G p.K597E Missense 11/26 - 1
12-122825967-G-A c.1784C>T p.T595M Missense 11/26 - 2
12-122825971-C-T c.1780G>A p.A594T Missense 11/26 - 3
12-122825972-G-A c.1779C>T p.T593= Synonymous 11/26 - 2
12-122825972-G-C c.1779C>G p.T593= Synonymous 11/26 - 2
12-122825972-G-T c.1779C>A p.T593= Synonymous 11/26 - 2
12-122825973-G-A c.1778C>T p.T593I Missense 11/26 - 2
12-122825974-T-C c.1777A>G p.T593A Missense 11/26 - 1
12-122825979-CAGAG-C c.1769_1772del p.A590Gfs*15 Frameshift 11/26 - 1
12-122825980-G-A c.1771C>T p.L591= Synonymous 11/26 - 1
12-122825992-C-A c.1759G>T p.E587* Nonsense 11/26 - 1
12-122825992-C-T c.1759G>A p.E587K Missense 11/26 - 2
12-122825993-C-A c.1758G>T p.K586N Missense 11/26 - 3
12-122825993-C-T c.1758G>A p.K586= Synonymous 11/26 - 1
12-122825994-T-G c.1757A>C p.K586T Missense 11/26 - 1
12-122825995-T-C c.1756A>G p.K586E Missense 11/26 - 1
12-122825998-G-T c.1753C>A p.Q585K Missense 11/26 - 1
12-122826003-G-C c.1748C>G p.T583S Missense 11/26 - 1
12-122826004-T-A c.1747A>T p.T583S Missense 11/26 - 1
12-122826009-T-A c.1742A>T p.E581V Missense 11/26 - 1
12-122826012-C-A c.1739G>T p.R580L Missense 11/26 - 1
12-122826012-C-T c.1739G>A p.R580Q Missense 11/26 - 2
12-122826013-G-A c.1738C>T p.R580W Missense 11/26 - 5
12-122826015-G-A c.1736C>T p.A579V Missense 11/26 - 2
12-122826016-C-A c.1735G>T p.A579S Missense 11/26 - 1
12-122826016-C-T c.1735G>A p.A579T Missense 11/26 - 3
12-122826019-C-A c.1732G>T p.G578* Nonsense 11/26 - 1
12-122826021-A-G c.1730T>C p.F577S Missense 11/26 - 1
12-122826020-A-C c.1731T>G p.F577L Missense 11/26 - 1
12-122826020-A-T c.1731T>A p.F577L Missense 11/26 - 1
12-122826022-A-G c.1729T>C p.F577L Missense 11/26 - 1
12-122826024-T-C c.1727A>G p.H576R Missense 11/26 - 3
12-122826031-T-C c.1720A>G p.K574E Missense 11/26 - 1
12-122826034-G-T c.1717C>A p.L573M Missense 11/26 - 1
12-122826036-G-C c.1715C>G p.S572C Missense 11/26 - 1
12-122826044-T-A c.1707A>T p.E569D Missense 11/26 - 1
12-122826044-T-G c.1707A>C p.E569D Missense 11/26 - 1
12-122826046-C-A c.1705G>T p.E569* Nonsense 11/26 - 1
12-122826046-C-G c.1705G>C p.E569Q Missense 11/26 - 1
12-122826047-T-C c.1704A>G p.R568= Synonymous 11/26 - 1
12-122826058-C-T c.1693G>A p.D565N Missense 11/26 - 1
12-122826062-A-G c.1689T>C p.R563= Synonymous 11/26 - 1
12-122826063-C-T c.1688G>A p.R563H Missense 11/26 - 1
12-122826064-G-A c.1687C>T p.R563C Missense 11/26 - 4
12-122826065-G-A c.1686C>T p.T562= Synonymous 11/26 - 1
12-122826067-T-C c.1684A>G p.T562A Missense 11/26 - 1
12-122826068-G-A c.1683C>T p.V561= Synonymous 11/26 - 1
12-122826068-G-C c.1683C>G p.V561= Synonymous 11/26 - 1
12-122826068-G-T c.1683C>A p.V561= Synonymous 11/26 - 1
12-122826073-C-T c.1678G>A p.E560K Missense 11/26 - 1
12-122826075-A-G c.1676T>C p.L559S Missense 11/26 - 1
12-122826081-T-C c.1670A>G p.E557G Missense 11/26 - 3
12-122826085-G-A c.1666C>T p.Q556* Nonsense 11/26 - 1
12-122826086-C-A c.1665G>T p.L555F Missense 11/26 - 1
12-122826086-C-G c.1665G>C p.L555F Missense 11/26 - 1
12-122826089-A-AGCG c.1661_1662insCGC p.S554_L555insA InFrameInsertion 11/26 - 1
12-122826090-G-A c.1661C>T p.S554F Missense 11/26 - 3
12-122826090-G-C c.1661C>G p.S554C Missense 11/26 - 2
12-122826090-G-GCCTCAAACAGTC c.1660_1661insGACTGTTTGAGG p.S554delins* Nonsense 11/26 - 1
12-122826093-C-T c.1658G>A p.S553N Missense 11/26 - 2
12-122826093-CT-GG c.1657_1658delinsCC p.S553P Missense 11/26 - 1
12-122826096-A-C c.1655T>G p.I552R Missense 11/26 - 1
12-122826098-C-A c.1653G>T p.E551D Missense 11/26 - 3
12-122826098-C-G c.1653G>C p.E551D Missense 11/26 - 5
12-122826100-C-T c.1651G>A p.E551K Missense 11/26 - 1
12-122826110-G-A c.1641C>T p.S547= Synonymous 11/26 - 1
12-122826117-G-T c.1634C>A p.S545* Nonsense 11/26 - 1
12-122826124-C-T c.1627G>A p.D543N Missense 11/26 - 1
12-122826130-C-T c.1621G>A p.D541N Missense 11/26 - 1
12-122826131-CCC-ACA c.1618_1620delinsTGT p.G540C Missense 11/26 - 1
12-122826131-C-G c.1620G>C p.G540= Synonymous 11/26 - 1
12-122826135-G-A c.1616C>T p.A539V Missense 11/26 - 1
12-122826135-G-T c.1616C>A p.A539D Missense 11/26 - 1
12-122826140-C-A c.1611G>T p.K537N Missense 11/26 - 1
12-122826140-C-G c.1611G>C p.K537N Missense 11/26 - 1
12-122826144-T-C c.1607A>G p.N536S Missense 11/26 - 2
12-122826147-G-A c.1604C>T p.S535F Missense 11/26 - 1
12-122826152-T-A c.1599A>T p.L533= Synonymous 11/26 - 1
12-122826152-T-C c.1599A>G p.L533= Synonymous 11/26 - 1
12-122826152-T-G c.1599A>C p.L533= Synonymous 11/26 - 1
12-122826154-G-A c.1597C>T p.L533= Synonymous 11/26 - 1
12-122826153-A-G c.1598T>C p.L533P Missense 11/26 - 1
12-122826156-C-T c.1595G>A p.R532K Missense 11/26 - 1
12-122826158-TCT-ACA c.1591_1593delinsTGT p.R531C Missense 11/26 - 1
12-122826162-C-T c.1589G>A p.R530Q Missense 11/26 - 1
12-122826163-G-A c.1588C>T p.R530* Nonsense 11/26 - 1
12-122826163-G-C c.1588C>G p.R530G Missense 11/26 - 1
12-122826171-G-A c.1580C>T p.A527V Missense 11/26 - 1
12-122826185-TCT-ATG c.1564_1566delinsCAT p.R522H Missense 11/26 - 1
12-122826186-C-T c.1565G>A p.R522K Missense 11/26 - 1
12-122826192-G-T c.1559C>A p.A520E Missense 11/26 - 2
12-122826193-C-T c.1558G>A p.A520T Missense 11/26 - 1
12-122826194-T-A c.1557A>T p.L519= Synonymous 11/26 - 1
12-122826194-T-C c.1557A>G p.L519= Synonymous 11/26 - 1
12-122826194-T-G c.1557A>C p.L519= Synonymous 11/26 - 1
12-122826196-G-A c.1555C>T p.L519= Synonymous 11/26 - 1
12-122826199-C-A c.1552G>T p.D518Y Missense 11/26 - 1
12-122826200-T-A c.1551A>T p.K517N Missense 11/26 - 3
12-122826200-T-G c.1551A>C p.K517N Missense 11/26 - 2
12-122826207-A-G c.1544T>C p.L515P Missense 11/26 - 3
12-122826208-G-C c.1543C>G p.L515V Missense 11/26 - 1
12-122826208-G-T c.1543C>A p.L515M Missense 11/26 - 1
12-122826211-C-A c.1540G>T p.E514* Nonsense 11/26 - 1
12-122826219-C-A c.1532G>T p.R511L Missense 11/26 - 2
12-122826219-C-T c.1532G>A p.R511H Missense 11/26 - 1
12-122826220-G-A c.1531C>T p.R511C Missense 11/26 - 1
12-122826220-G-T c.1531C>A p.R511S Missense 11/26 - 1
12-122826221-T-A c.1530A>T p.S510= Synonymous 11/26 - 1
12-122826221-T-C c.1530A>G p.S510= Synonymous 11/26 - 1
12-122826221-T-G c.1530A>C p.S510= Synonymous 11/26 - 1
12-122826223-A-G c.1528T>C p.S510P Missense 11/26 - 1
12-122826226-T-G c.1525A>C p.K509Q Missense 11/26 - 1
12-122826227-T-G c.1524A>C p.E508D Missense 11/26 - 1
12-122826230-TGA-GTT c.1519_1521delinsAAC p.S507N Missense 11/26 - 1
12-122826234-AC-CG c.1516_1517delinsCG p.V506R Missense 11/26 - 1
12-122826236-T-A c.1515A>T p.T505= Synonymous 11/26 - 3
12-122826240-G-A c.1511C>T p.A504V Missense 11/26 - 1
12-122826310-T-C c.1507-66A>G - IntronicSNV - 10/25 3
12-122826417-A-C c.1507-173T>G - IntronicSNV - 10/25 2
12-122826417-A-G c.1507-173T>C - IntronicSNV - 10/25 2
12-122826417-A-T c.1507-173T>A - IntronicSNV - 10/25 2
12-122831868-G-A c.1506+54C>T - IntronicSNV - 10/25 1
12-122831923-CT-TC c.1504_1505delinsGA p.R502E Missense 10/26 - 1
12-122831925-AG-CA c.1502_1503delinsTG p.T501M Missense 10/26 - 1
12-122831926-G-T c.1502C>A p.T501N Missense 10/26 - 1
12-122831927-T-C c.1501A>G p.T501A Missense 10/26 - 1
12-122831928-G-C c.1500C>G p.D500E Missense 10/26 - 1
12-122831928-G-T c.1500C>A p.D500E Missense 10/26 - 2
12-122831944-TG-T c.1483del p.Q495Rfs*4 Frameshift 10/26 - 1
12-122831951-T-C c.1477A>G p.K493E Missense 10/26 - 2
12-122831960-T-G c.1468A>C p.K490Q Missense 10/26 - 1
12-122831969-C-T c.1459G>A p.E487K Missense 10/26 - 1
12-122831970-A-G c.1458T>C p.F486= Synonymous 10/26 - 1
12-122831976-C-A c.1452G>T p.L484= Synonymous 10/26 - 1
12-122831976-C-G c.1452G>C p.L484= Synonymous 10/26 - 1
12-122831976-C-T c.1452G>A p.L484= Synonymous 10/26 - 1
12-122831978-G-A c.1450C>T p.L484= Synonymous 10/26 - 1
12-122831977-A-T c.1451T>A p.L484Q Missense 10/26 - 1
12-122831979-G-A c.1449C>T p.S483= Synonymous 10/26 - 2
12-122831980-C-A c.1448G>T p.S483I Missense 10/26 - 1
12-122831987-C-G c.1441G>C p.E481Q Missense 10/26 - 1
12-122831987-C-T c.1441G>A p.E481K Missense 10/26 - 2
12-122831994-C-T c.1434G>A p.K478= Synonymous 10/26 - 1
12-122831998-A-G c.1430T>C p.I477T Missense 10/26 - 3
12-122832001-C-T c.1427G>A p.R476H Missense 10/26 - 4
12-122832004-G-A c.1424C>T p.A475V Missense 10/26 - 2
12-122832005-C-A c.1423G>T p.A475S Missense 10/26 - 1
12-122832009-C-A c.1419G>T p.E473D Missense 10/26 - 1
12-122832020-T-G c.1408A>C p.T470P Missense 10/26 - 1
12-122832024-C-T c.1404G>A p.T468T UnclassifiedSNV 10/26 - 1
12-122835658-A-C c.1401T>G p.N467K Missense 9/26 - 1
12-122835658-A-T c.1401T>A p.N467K Missense 9/26 - 1
12-122835674-GA-TT c.1384_1385delinsAA p.S462N Missense 9/26 - 1
12-122835680-T-G c.1379A>C p.Q460P Missense 9/26 - 1
12-122835688-T-C c.1371A>G p.Q457= Synonymous 9/26 - 1
12-122835689-T-C c.1370A>G p.Q457R Missense 9/26 - 1
12-122837275-C-T c.1366G>A p.E456K Missense 8/26 - 6
12-122837278-G-T c.1363C>A p.L455I Missense 8/26 - 1
12-122837292-A-C c.1349T>G p.I450S Missense 8/26 - 1
12-122837293-T-C c.1348A>G p.I450V Missense 8/26 - 1
12-122837294-T-C c.1347A>G p.S449= Synonymous 8/26 - 1
12-122837295-G-C c.1346C>G p.S449* Nonsense 8/26 - 3
12-122837295-G-T c.1346C>A p.S449* Nonsense 8/26 - 2
12-122837299-C-A c.1342G>T p.E448* Nonsense 8/26 - 1
12-122837301-T-G c.1340A>C p.E447A Missense 8/26 - 1
12-122837305-C-T c.1336G>A p.E446K Missense 8/26 - 1
12-122837308-C-A c.1333G>T p.V445F Missense 8/26 - 1
12-122837311-G-A c.1330C>T p.R444W Missense 8/26 - 3
12-122837315-C-A c.1326G>T p.Q442H Missense 8/26 - 1
12-122837321-G-A c.1320C>T p.D440= Synonymous 8/26 - 2
12-122837329-C-T c.1312G>A p.V438I Missense 8/26 - 2
12-122837330-C-A c.1311G>T p.K437N Missense 8/26 - 2
12-122837330-C-G c.1311G>C p.K437N Missense 8/26 - 1
12-122837330-C-T c.1311G>A p.K437= Synonymous 8/26 - 1
12-122837331-TT-GC c.1309_1310delinsGC p.K437A Missense 8/26 - 1
12-122837564-C-A c.1308-231G>T - IntronicSNV - 7/25 1
12-122837632-A-G c.1308-299T>C - IntronicSNV - 7/25 1
12-122837652-A-G c.1308-319T>C - IntronicSNV - 7/25 1
12-122837658-A-G c.1308-325T>C - IntronicSNV - 7/25 1
12-122838947-CA-C c.1307+52del - IntronicDeletion - 7/25 2
12-122838956-A-C c.1307+44T>G - IntronicSNV - 7/25 4
12-122838956-A-G c.1307+44T>C - IntronicSNV - 7/25 6
12-122838999-C-T c.1307+1G>A - IntronicSNV - 7/25 2
12-122839003-TT-GC c.1303_1304delinsGC p.K435A Missense 7/26 - 1
12-122839008-C-A c.1299G>T p.E433D Missense 7/26 - 1
12-122839008-C-G c.1299G>C p.E433D Missense 7/26 - 1
12-122839010-C-G c.1297G>C p.E433Q Missense 7/26 - 1
12-122839013-C-T c.1294G>A p.E432K Missense 7/26 - 1
12-122839016-G-A c.1291C>T p.L431F Missense 7/26 - 1
12-122839016-G-GTGATAGGCTT c.1290_1291insAAGCCTATCA p.L431Kfs*5 Frameshift 7/26 - 1
12-122839020-G-A c.1287C>T p.N429= Synonymous 7/26 - 1
12-122839023-G-C c.1284C>G p.L428= Synonymous 7/26 - 2
12-122839025-G-T c.1282C>A p.L428I Missense 7/26 - 1
12-122839032-CAC-GAT c.1273_1275delinsATC p.V425I Missense 7/26 - 1
12-122839044-G-T c.1263C>A p.D421E Missense 7/26 - 1
12-122839047-A-C c.1260T>G p.A420= Synonymous 7/26 - 1
12-122839047-A-G c.1260T>C p.A420= Synonymous 7/26 - 1
12-122839047-A-T c.1260T>A p.A420= Synonymous 7/26 - 1
12-122839049-C-G c.1258G>C p.A420P Missense 7/26 - 1
12-122839049-C-T c.1258G>A p.A420T Missense 7/26 - 1
12-122839051-G-A c.1256C>T p.A419V Missense 7/26 - 1
12-122839052-C-T c.1255G>A p.A419T Missense 7/26 - 3
12-122839052-C-CT c.1254dup p.A419Sfs*3 Frameshift 7/26 - 1
12-122839060-A-G c.1247T>C p.M416T Missense 7/26 - 1
12-122839061-T-C c.1246A>G p.M416V Missense 7/26 - 1
12-122839061-T-G c.1246A>C p.M416L Missense 7/26 - 1
12-122839066-C-T c.1241G>A p.R414Q Missense 7/26 - 1
12-122839067-G-A c.1240C>T p.R414* Nonsense 7/26 - 3
12-122839089-CA-C c.1217del p.L406Wfs*93 Frameshift 7/26 - 1
12-122839099-A-G c.1208T>C p.V403A Missense 7/26 - 1
12-122839100-C-A c.1207G>T p.V403F Missense 7/26 - 1
12-122839662-C-A c.1203G>T p.Q401H Missense 6/26 - 1
12-122839662-C-G c.1203G>C p.Q401H Missense 6/26 - 1
12-122839665-G-A c.1200C>T p.D400= Synonymous 6/26 - 1
12-122839667-C-T c.1198G>A p.D400N Missense 6/26 - 1
12-122839673-C-G c.1192G>C p.G398R Missense 6/26 - 1
12-122839673-C-T c.1192G>A p.G398R Missense 6/26 - 1
12-122839674-G-A c.1191C>T p.D397= Synonymous 6/26 - 2
12-122839676-C-T c.1189G>A p.D397N Missense 6/26 - 1
12-122839677-CC-AT c.1187_1188delinsAT p.R396H Missense 6/26 - 1
12-122839678-C-T c.1187G>A p.R396Q Missense 6/26 - 2
12-122839679-G-A c.1186C>T p.R396W Missense 6/26 - 4
12-122839681-G-A c.1184C>T p.A395V Missense 6/26 - 1
12-122839685-G-A c.1180C>T p.L394= Synonymous 6/26 - 2
12-122839688-C-T c.1177G>A p.A393T Missense 6/26 - 1
12-122839700-C-G c.1165G>C p.E389Q Missense 6/26 - 1
12-122839706-C-G c.1159G>C p.E387Q Missense 6/26 - 1
12-122839707-C-A c.1158G>T p.G386= Synonymous 6/26 - 1
12-122839707-C-G c.1158G>C p.G386= Synonymous 6/26 - 1
12-122839707-C-T c.1158G>A p.G386= Synonymous 6/26 - 1
12-122839709-C-T c.1156G>A p.G386R Missense 6/26 - 2
12-122839710-C-G c.1155G>C p.V385= Synonymous 6/26 - 2
12-122839712-C-A c.1153G>T p.V385L Missense 6/26 - 1
12-122839712-C-G c.1153G>C p.V385L Missense 6/26 - 1
12-122839712-C-T c.1153G>A p.V385M Missense 6/26 - 2
12-122839716-GCT-TCA c.1147_1149delinsTGA p.S383* Nonsense 6/26 - 1
12-122839719-C-T c.1146G>A p.T382= Synonymous 6/26 - 1
12-122839723-G-A c.1142C>T p.A381V Missense 6/26 - 2
12-122839723-G-T c.1142C>A p.A381D Missense 6/26 - 1
12-122839729-G-A c.1136C>T p.A379V Missense 6/26 - 1
12-122839730-C-A c.1135G>T p.A379S Missense 6/26 - 1
12-122839733-C-T c.1132G>A p.V378M Missense 6/26 - 1
12-122839737-C-A c.1128G>T p.A376= Synonymous 6/26 - 1
12-122839737-C-G c.1128G>C p.A376= Synonymous 6/26 - 1
12-122839737-C-T c.1128G>A p.A376= Synonymous 6/26 - 1
12-122839740-CCT-ATG c.1123_1125delinsCAT p.R375H Missense 6/26 - 1
12-122839741-C-A c.1124G>T p.R375M Missense 6/26 - 1
12-122839741-CT-AG c.1123_1124inv p.R375L Missense 6/26 - 1
12-122839741-CT-GG c.1123_1124delinsCC p.R375P Missense 6/26 - 1
12-122839752-CC-AT c.1112_1113delinsAT p.R371H Missense 6/26 - 1
12-122839752-CCG-ACA c.1111_1113delinsTGT p.R371C Missense 6/26 - 1
12-122839753-C-A c.1112G>T p.R371L Missense 6/26 - 1
12-122839753-C-T c.1112G>A p.R371Q Missense 6/26 - 1
12-122839754-G-A c.1111C>T p.R371W Missense 6/26 - 2
12-122839757-C-A c.1108G>T p.E370* Nonsense 6/26 - 1
12-122839757-C-G c.1108G>C p.E370Q Missense 6/26 - 1
12-122839757-C-T c.1108G>A p.E370K Missense 6/26 - 2
12-122839758-C-A c.1107G>T p.A369= Synonymous 6/26 - 1
12-122839758-C-G c.1107G>C p.A369= Synonymous 6/26 - 1
12-122839758-C-T c.1107G>A p.A369= Synonymous 6/26 - 1
12-122839759-G-A c.1106C>T p.A369V Missense 6/26 - 1
12-122839760-C-T c.1105G>A p.A369T Missense 6/26 - 1
12-122839763-G-A c.1102C>T p.L368= Synonymous 6/26 - 1
12-122839772-C-A c.1093G>T p.E365* Nonsense 6/26 - 1
12-122839772-C-G c.1093G>C p.E365Q Missense 6/26 - 2
12-122839779-C-G c.1086G>C p.Q362H Missense 6/26 - 1
12-122839781-G-A c.1084C>T p.Q362* Nonsense 6/26 - 1
12-122839784-G-A c.1081C>T p.Q361* Nonsense 6/26 - 1
12-122839797-G-A c.1068C>T p.A356= Synonymous 6/26 - 2
12-122839797-G-C c.1068C>G p.A356= Synonymous 6/26 - 2
12-122839797-G-T c.1068C>A p.A356= Synonymous 6/26 - 2
12-122839802-C-T c.1063G>A p.E355K Missense 6/26 - 1
12-122839820-C-T c.1045G>A p.G349S Missense 6/26 - 1
12-122839821-G-A c.1044C>T p.S348= Synonymous 6/26 - 2
12-122839821-G-C c.1044C>G p.S348= Synonymous 6/26 - 1
12-122839821-G-T c.1044C>A p.S348= Synonymous 6/26 - 1
12-122839823-A-C c.1042T>G p.S348A Missense 6/26 - 1
12-122839827-C-A c.1038G>T p.K346N Missense 6/26 - 1
12-122839830-C-T c.1035G>A p.R345= Synonymous 6/26 - 3
12-122839832-T-G c.1033A>C p.R345= Synonymous 6/26 - 1
12-122839831-C-A c.1034G>T p.R345M Missense 6/26 - 1
12-122839831-C-T c.1034G>A p.R345K Missense 6/26 - 1
12-122839831-CT-TG c.1033_1034delinsCA p.R345Q Missense 6/26 - 1
12-122839835-C-T c.1030G>A p.A344T Missense 6/26 - 1
12-122839837-T-G c.1028A>C p.Y343S Missense 6/26 - 1
12-122839839-AC-TT c.1025_1026delinsAA p.R342Q Missense 6/26 - 1
12-122839840-C-A c.1025G>T p.R342L Missense 6/26 - 1
12-122839840-C-T c.1025G>A p.R342H Missense 6/26 - 1
12-122839846-G-A c.1019C>T p.S340F Missense 6/26 - 5
12-122839856-T-G c.1009A>C p.T337P Missense 6/26 - 1
12-122839909-C-T c.1006-50G>A - IntronicSNV - 5/25 3
12-122840172-T-C c.1006-313A>G - IntronicSNV - 5/25 1
12-122840172-T-G c.1006-313A>C - IntronicSNV - 5/25 1
12-122841396-G-A c.1006-1537C>T - IntronicSNV - 5/25 1
12-122845511-C-G c.1000G>C p.G334R Missense 5/26 - 1
12-122845511-C-T c.1000G>A p.G334R Missense 5/26 - 1
12-122845514-T-C c.997A>G p.T333A Missense 5/26 - 1
12-122845514-T-G c.997A>C p.T333P Missense 5/26 - 4
12-122845515-C-A c.996G>T p.R332= Synonymous 5/26 - 1
12-122845516-C-T c.995G>A p.R332Q Missense 5/26 - 1
12-122845517-G-A c.994C>T p.R332W Missense 5/26 - 7
12-122845517-G-T c.994C>A p.R332= Synonymous 5/26 - 1
12-122845521-G-A c.990C>T p.P330= Synonymous 5/26 - 1
12-122845521-G-C c.990C>G p.P330= Synonymous 5/26 - 1
12-122845521-G-T c.990C>A p.P330= Synonymous 5/26 - 1
12-122845522-G-A c.989C>T p.P330L Missense 5/26 - 1
12-122845522-G-C c.989C>G p.P330R Missense 5/26 - 1
12-122845523-G-T c.988C>A p.P330T Missense 5/26 - 1
12-122845524-CCT-ACA c.985_987delinsTGT p.R329C Missense 5/26 - 1
12-122845525-C-A c.986G>T p.R329M Missense 5/26 - 1
12-122845529-T-C c.982A>G p.S328G Missense 5/26 - 1
12-122845537-GA-TT c.973_974delinsAA p.S325N Missense 5/26 - 1
12-122845540-G-A c.971C>T p.S324F Missense 5/26 - 1
12-122845543-G-A c.968C>T p.A323V Missense 5/26 - 1
12-122845549-G-A c.962C>T p.S321L Missense 5/26 - 1
12-122845552-CT-GC c.958_959delinsGC p.S320A Missense 5/26 - 1
12-122845560-G-A c.951C>T p.S317= Synonymous 5/26 - 1
12-122845563-G-A c.948C>T p.L316= Synonymous 5/26 - 4
12-122845563-G-C c.948C>G p.L316= Synonymous 5/26 - 3
12-122845563-G-T c.948C>A p.L316= Synonymous 5/26 - 3
12-122845565-G-C c.946C>G p.L316V Missense 5/26 - 1
12-122845567-G-A c.944C>T p.S315F Missense 5/26 - 5
12-122845573-G-A c.938C>T p.A313V Missense 5/26 - 1
12-122845576-GA-TC c.934_935inv p.S312D Missense 5/26 - 1
12-122845577-A-C c.934T>G p.S312A Missense 5/26 - 2
12-122845578-A-C c.933T>G p.P311= Synonymous 5/26 - 1
12-122845578-A-G c.933T>C p.P311= Synonymous 5/26 - 1
12-122845578-A-T c.933T>A p.P311= Synonymous 5/26 - 1
12-122845579-G-A c.932C>T p.P311L Missense 5/26 - 1
12-122845581-G-A c.930C>T p.S310= Synonymous 5/26 - 2
12-122845582-C-T c.929G>A p.S310N Missense 5/26 - 1
12-122845584-GCG-CCA c.925_927delinsTGG p.R309W Missense 5/26 - 1
12-122845585-C-A c.926G>T p.R309L Missense 5/26 - 1
12-122845585-C-T c.926G>A p.R309H Missense 5/26 - 1
12-122845595-T-C c.916A>G p.S306G Missense 5/26 - 1
12-122845598-C-T c.913G>A p.A305T Missense 5/26 - 3
12-122845599-G-A c.912C>T p.S304= Synonymous 5/26 - 1
12-122845599-G-C c.912C>G p.S304= Synonymous 5/26 - 1
12-122845599-G-T c.912C>A p.S304= Synonymous 5/26 - 1
12-122845602-C-A c.909G>T p.T303= Synonymous 5/26 - 1
12-122845602-C-G c.909G>C p.T303= Synonymous 5/26 - 1
12-122845602-C-T c.909G>A p.T303= Synonymous 5/26 - 1
12-122845603-G-A c.908C>T p.T303M Missense 5/26 - 2
12-122845607-T-G c.904A>C p.T302P Missense 5/26 - 1
12-122845608-C-A c.903G>T p.A301= Synonymous 5/26 - 1
12-122845608-C-G c.903G>C p.A301= Synonymous 5/26 - 1
12-122845608-C-T c.903G>A p.A301= Synonymous 5/26 - 1
12-122845609-G-A c.902C>T p.A301V Missense 5/26 - 1
12-122845614-CAC-GAT c.895_897delinsATC p.V299I Missense 5/26 - 1
12-122845616-C-T c.895G>A p.V299M Missense 5/26 - 1
12-122845617-TC-AT c.893_894delinsAT p.R298H Missense 5/26 - 1
12-122845618-C-G c.893G>C p.R298P Missense 5/26 - 1
12-122845618-CG-GC c.892_893delinsGC p.R298A Missense 5/26 - 2
12-122845618-C-T c.893G>A p.R298Q Missense 5/26 - 3
12-122845619-G-A c.892C>T p.R298* Nonsense 5/26 - 2
12-122845621-C-G c.890G>C p.R297T Missense 5/26 - 1
12-122845621-CT-GC c.889_890delinsGC p.R297A Missense 5/26 - 1
12-122845623-C-A c.888G>T p.V296= Synonymous 5/26 - 1
12-122845624-A-G c.887T>C p.V296A Missense 5/26 - 1
12-122845627-G-A c.884C>T p.A295V Missense 5/26 - 1
12-122845629-G-A c.882C>T p.N294= Synonymous 5/26 - 2
12-122845630-T-C c.881A>G p.N294S Missense 5/26 - 2
12-122845635-C-A c.876G>T p.K292N Missense 5/26 - 1
12-122845635-C-G c.876G>C p.K292N Missense 5/26 - 1
12-122845638-G-T c.873C>A p.A291= Synonymous 5/26 - 1
12-122845649-G-T c.862C>A p.P288T Missense 5/26 - 1
12-122845650-T-A c.861A>T p.T287= Synonymous 5/26 - 2
12-122845650-T-C c.861A>G p.T287= Synonymous 5/26 - 2
12-122845650-T-G c.861A>C p.T287= Synonymous 5/26 - 2
12-122845650-TG-CA c.860_861inv p.T287M Missense 5/26 - 1
12-122845650-TGT-GTC c.859_861delinsGAC p.T287D Missense 5/26 - 2
12-122845651-G-T c.860C>A p.T287K Missense 5/26 - 1
12-122845652-T-C c.859A>G p.T287A Missense 5/26 - 2
12-122845653-AG-CC c.857_858delinsGG p.T286R Missense 5/26 - 1
12-122845654-GT-TC c.856_857delinsGA p.T286D Missense 5/26 - 2
12-122845655-T-C c.856A>G p.T286A Missense 5/26 - 2
12-122845657-G-A c.854C>T p.S285F Missense 5/26 - 1
12-122845661-G-A c.850C>T p.P284S Missense 5/26 - 1
12-122845659-A-AG c.851dup p.S285Ffs*54 Frameshift 5/26 - 1
12-122845662-G-C c.849C>G p.F283L Missense 5/26 - 1
12-122845662-G-T c.849C>A p.F283L Missense 5/26 - 1
12-122845664-A-G c.847T>C p.F283L Missense 5/26 - 1
12-122845666-C-G c.845G>C p.G282A Missense 5/26 - 1
12-122845667-C-T c.844G>A p.G282S Missense 5/26 - 2
12-122845671-C-A c.840G>T p.K280N Missense 5/26 - 1
12-122845673-T-G c.838A>C p.K280Q Missense 5/26 - 1
12-122845676-T-C c.835A>G p.T279A Missense 5/26 - 1
12-122845681-T-G c.830A>C p.K277T Missense 5/26 - 1
12-122845681-TT-GC c.829_830delinsGC p.K277A Missense 5/26 - 2
12-122845684-TG-GC c.826_827delinsGC p.H276A Missense 5/26 - 1
12-122845690-G-A c.821C>T p.P274L Missense 5/26 - 1
12-122845691-G-A c.820C>T p.P274S Missense 5/26 - 1
12-122845691-G-C c.820C>G p.P274A Missense 5/26 - 1
12-122845691-G-T c.820C>A p.P274T Missense 5/26 - 1
12-122845693-G-A c.818C>T p.A273V Missense 5/26 - 2
12-122845694-C-T c.817G>A p.A273T Missense 5/26 - 1
12-122845695-G-A c.816C>T p.F272= Synonymous 5/26 - 3
12-122845698-C-A c.813G>T p.L271F Missense 5/26 - 14
12-122845698-C-G c.813G>C p.L271F Missense 5/26 - 2
12-122845703-C-T c.808G>A p.G270S Missense 5/26 - 4
12-122845708-TT-GC c.802_803delinsGC p.K268A Missense 5/26 - 2
12-122845710-G-A c.801C>T p.P267= Synonymous 5/26 - 1
12-122845710-G-C c.801C>G p.P267= Synonymous 5/26 - 1
12-122845710-G-T c.801C>A p.P267= Synonymous 5/26 - 1
12-122845711-G-A c.800C>T p.P267L Missense 5/26 - 1
12-122845711-G-T c.800C>A p.P267H Missense 5/26 - 1
12-122845717-C-T c.794G>A p.C265Y Missense 5/26 - 1
12-122845717-C-G c.794G>C p.C265S Missense 5/26 - 1
12-122845718-A-G c.793T>C p.C265R Missense 5/26 - 1
12-122845718-A-T c.793T>A p.C265S Missense 5/26 - 2
12-122845719-C-G c.792G>C p.Q264H Missense 5/26 - 1
12-122845719-C-T c.792G>A p.Q264= Synonymous 5/26 - 1
12-122845721-G-A c.790C>T p.Q264* Nonsense 5/26 - 1
12-122845721-G-T c.790C>A p.Q264K Missense 5/26 - 1
12-122848483-C-G c.782+47G>C - IntronicSNV - 4/25 1
12-122848483-C-T c.782+47G>A - IntronicSNV - 4/25 1
12-122848533-G-A c.779C>T p.T260I Missense 4/26 - 1
12-122848534-T-C c.778A>G p.T260A Missense 4/26 - 1
12-122848536-C-G c.776G>C p.G259A Missense 4/26 - 1
12-122848539-G-A c.773C>T p.A258V Missense 4/26 - 1
12-122848541-AA-CT c.770_771delinsAG p.V257E Missense 4/26 - 1
12-122848543-C-T c.769G>A p.V257I Missense 4/26 - 1
12-122848547-G-A c.765C>T p.G255= Synonymous 4/26 - 2
12-122848547-G-C c.765C>G p.G255= Synonymous 4/26 - 1
12-122848547-G-T c.765C>A p.G255= Synonymous 4/26 - 1
12-122848548-C-T c.764G>A p.G255D Missense 4/26 - 1
12-122848554-TT-GC c.757_758delinsGC p.N253A Missense 4/26 - 1
12-122848555-T-C c.757A>G p.N253D Missense 4/26 - 1
12-122848557-T-C c.755A>G p.K252R Missense 4/26 - 1
12-122848557-TT-GC c.754_755delinsGC p.K252A Missense 4/26 - 2
12-122848558-T-C c.754A>G p.K252E Missense 4/26 - 1
12-122848558-T-G c.754A>C p.K252Q Missense 4/26 - 1
12-122848559-C-T c.753G>A p.G251= Synonymous 4/26 - 1
12-122848560-C-A c.752G>T p.G251V Missense 4/26 - 1
12-122848561-C-A c.751G>T p.G251W Missense 4/26 - 1
12-122848568-C-T c.744G>A p.E248= Synonymous 4/26 - 1
12-122848569-T-A c.743A>T p.E248V Missense 4/26 - 1
12-122848570-C-A c.742G>T p.E248* Nonsense 4/26 - 1
12-122848570-C-T c.742G>A p.E248K Missense 4/26 - 1
12-122848575-A-G c.737T>C p.L246S Missense 4/26 - 1
12-122848577-C-T c.735G>A p.E245= Synonymous 4/26 - 1
12-122848577-CTC-GTT c.733_735delinsAAC p.E245N Missense 4/26 - 1
12-122848578-T-G c.734A>C p.E245A Missense 4/26 - 1
12-122848579-C-A c.733G>T p.E245* Nonsense 4/26 - 1
12-122848583-G-A c.729C>T p.G243= Synonymous 4/26 - 2
12-122848586-A-G c.726T>C p.C242= Synonymous 4/26 - 1
12-122848587-C-T c.725G>A p.C242Y Missense 4/26 - 1
12-122848589-C-G c.723G>C p.W241C Missense 4/26 - 1
12-122848590-C-T c.722G>A p.W241* Nonsense 4/26 - 1
12-122848592-C-T c.720G>A p.E240= Synonymous 4/26 - 1
12-122848594-C-G c.718G>C p.E240Q Missense 4/26 - 1
12-122848594-C-T c.718G>A p.E240K Missense 4/26 - 1
12-122848597-C-T c.715G>A p.G239R Missense 4/26 - 1
12-122848599-TT-GC c.712_713delinsGC p.K238A Missense 4/26 - 2
12-122848601-G-A c.711C>T p.A237= Synonymous 4/26 - 1
12-122848602-G-A c.710C>T p.A237V Missense 4/26 - 4
12-122848603-C-T c.709G>A p.A237T Missense 4/26 - 1
12-122848609-C-T c.703G>A p.D235N Missense 4/26 - 1
12-122848610-G-A c.702C>T p.T234= Synonymous 4/26 - 1
12-122848615-C-T c.697G>A p.E233K Missense 4/26 - 1
12-122848617-C-T c.695G>A p.G232E Missense 4/26 - 1
12-122848621-G-A c.691C>T p.L231F Missense 4/26 - 5
12-122848626-C-T c.686G>A p.R229Q Missense 4/26 - 1
12-122848627-G-A c.685C>T p.R229W Missense 4/26 - 3
12-122848630-C-T c.682G>A p.V228I Missense 4/26 - 1
12-122848629-ACTACACCAGC-A c.673_682del p.A225Sfs*19 Frameshift 4/26 - 1
12-122848633-C-T c.679G>A p.V227I Missense 4/26 - 1
12-122848635-C-G c.677G>C p.G226A Missense 4/26 - 1
12-122848635-C-T c.677G>A p.G226D Missense 4/26 - 1
12-122848638-G-A c.674C>T p.A225V Missense 4/26 - 1
12-122848641-T-C c.671A>G p.K224R Missense 4/26 - 1
12-122848641-TT-GC c.670_671delinsGC p.K224A Missense 4/26 - 2
12-122848644-G-T c.668C>A p.T223N Missense 4/26 - 1
12-122848649-A-ATCATTCTTC c.662_663insGAAGAATGA p.G221_G222insKND InFrameInsertion 4/26 - 2
12-122848649-A-C c.663T>G p.G221= Synonymous 4/26 - 1
12-122848649-A-G c.663T>C p.G221= Synonymous 4/26 - 1
12-122848649-A-T c.663T>A p.G221= Synonymous 4/26 - 1
12-122848652-A-C c.660T>G p.V220= Synonymous 4/26 - 1
12-122848652-A-G c.660T>C p.V220= Synonymous 4/26 - 1
12-122848652-A-T c.660T>A p.V220= Synonymous 4/26 - 1
12-122848652-A-AAGTGGCTCATCTAACTCC c.659_660insGGAGTTAGATGAGCCACT p.V220_G221insELDEPL SpliceAcceptorInsertion 4/26 - 2
12-122848652-A-AAGTGGCTCATCTAACTCCAAGCCCCAC c.659_660insGTGGGGCTTGGAGTTAGATGAGCCACT p.V220_G221insWGLELDEPL SpliceAcceptorInsertion 4/26 - 1
12-122848653-A-G c.659T>C p.V220A Missense 4/26 - 2
12-122849392-A-C c.658-738T>G - IntronicSNV - 3/25 2
12-122855309-G-A c.657+6627C>T - IntronicSNV - 3/25 1
12-122859711-TA-T c.657+2224del - IntronicDeletion - 3/25 1
12-122859878-C-T c.657+2058G>A - IntronicSNV - 3/25 1
12-122861791-G-A c.657+145C>T - IntronicSNV - 3/25 1
12-122861940-A-T c.653T>A p.V218E Missense 3/26 - 2
12-122861941-C-A c.652G>T p.V218L Missense 3/26 - 1
12-122861941-C-G c.652G>C p.V218L Missense 3/26 - 1
12-122861941-C-T c.652G>A p.V218I Missense 3/26 - 1
12-122861943-C-G c.650G>C p.R217T Missense 3/26 - 1
12-122861944-T-C c.649A>G p.R217G Missense 3/26 - 2
12-122861945-G-C c.648C>G p.D216E Missense 3/26 - 1
12-122861945-G-T c.648C>A p.D216E Missense 3/26 - 1
12-122861950-C-G c.643G>C p.G215R Missense 3/26 - 1
12-122861950-C-T c.643G>A p.G215R Missense 3/26 - 2
12-122861951-G-A c.642C>T p.I214= Synonymous 3/26 - 4
12-122861952-A-G c.641T>C p.I214T Missense 3/26 - 1
12-122861961-T-A c.632A>T p.E211V Missense 3/26 - 1
12-122861973-T-C c.620A>G p.K207R Missense 3/26 - 1
12-122861975-C-A c.618G>T p.K206N Missense 3/26 - 1
12-122861982-G-A c.611C>T p.S204L Missense 3/26 - 1
12-122861989-C-A c.604G>T p.A202S Missense 3/26 - 1
12-122861989-C-G c.604G>C p.A202P Missense 3/26 - 1
12-122861990-C-T c.603G>A p.E201= Synonymous 3/26 - 2
12-122861993-T-A c.600A>T p.S200= Synonymous 3/26 - 1
12-122861993-T-C c.600A>G p.S200= Synonymous 3/26 - 1
12-122861993-T-G c.600A>C p.S200= Synonymous 3/26 - 1
12-122861994-G-A c.599C>T p.S200L Missense 3/26 - 6
12-122862002-GGA-CTC c.589_591delinsGAG p.S197E Missense 3/26 - 1
12-122862004-A-C c.589T>G p.S197A Missense 3/26 - 1
12-122862007-T-C c.586A>G p.I196V Missense 3/26 - 1
12-122862008-A-C c.585T>G p.S195= Synonymous 3/26 - 1
12-122862008-A-G c.585T>C p.S195= Synonymous 3/26 - 1
12-122862008-AGA-CTC c.583_585delinsGAG p.S195E Missense 3/26 - 2
12-122862008-A-T c.585T>A p.S195= Synonymous 3/26 - 1
12-122862010-A-C c.583T>G p.S195A Missense 3/26 - 2
12-122862012-T-G c.581A>C p.E194A Missense 3/26 - 1
12-122862015-C-T c.578G>A p.S193N Missense 3/26 - 2
12-122862016-T-C c.577A>G p.S193G Missense 3/26 - 1
12-122862018-G-A c.575C>T p.A192V Missense 3/26 - 1
12-122862024-T-G c.569A>C p.K190T Missense 3/26 - 3
12-122862027-G-T c.566C>A p.T189K Missense 3/26 - 1
12-122862030-A-G c.563T>C p.L188P Missense 3/26 - 1
12-122862031-G-A c.562C>T p.L188F Missense 3/26 - 1
12-122862032-G-C c.561C>G p.N187K Missense 3/26 - 1
12-122862032-G-T c.561C>A p.N187K Missense 3/26 - 1
12-122862032-G-GT c.560dup p.N187Kfs*8 Frameshift 3/26 - 1
12-122862034-T-G c.559A>C p.N187H Missense 3/26 - 1
12-122862035-G-C c.558C>G p.S186R Missense 3/26 - 1
12-122862035-G-T c.558C>A p.S186R Missense 3/26 - 1
12-122862037-T-G c.556A>C p.S186R Missense 3/26 - 1
12-122862036-C-G c.557G>C p.S186T Missense 3/26 - 1
12-122862038-G-C c.555C>G p.I185M Missense 3/26 - 1
12-122862042-G-A c.551C>T p.P184L Missense 3/26 - 2
12-122862043-G-A c.550C>T p.P184S Missense 3/26 - 4
12-122862043-G-C c.550C>G p.P184A Missense 3/26 - 2
12-122862043-G-T c.550C>A p.P184T Missense 3/26 - 1
12-122862046-G-C c.547C>G p.P183A Missense 3/26 - 1
12-122862047-C-A c.546G>T p.T182= Synonymous 3/26 - 1
12-122862047-C-G c.546G>C p.T182= Synonymous 3/26 - 1
12-122862047-C-T c.546G>A p.T182= Synonymous 3/26 - 1
12-122862048-G-A c.545C>T p.T182M Missense 3/26 - 1
12-122862053-T-A c.540A>T p.S180= Synonymous 3/26 - 1
12-122862053-T-C c.540A>G p.S180= Synonymous 3/26 - 2
12-122862053-T-G c.540A>C p.S180= Synonymous 3/26 - 1
12-122862053-TG-AC c.539_540delinsGT p.S180C Missense 3/26 - 1
12-122862054-G-A c.539C>T p.S180L Missense 3/26 - 1
12-122862055-A-C c.538T>G p.S180A Missense 3/26 - 1
12-122862056-AG-TT c.536_537delinsAA p.P179Q Missense 3/26 - 1
12-122862057-G-A c.536C>T p.P179L Missense 3/26 - 1
12-122862057-G-C c.536C>G p.P179R Missense 3/26 - 1
12-122862059-T-A c.534A>T p.E178D Missense 3/26 - 1
12-122862059-T-G c.534A>C p.E178D Missense 3/26 - 1
12-122862061-C-T c.532G>A p.E178K Missense 3/26 - 6
12-122862071-TG-AT c.521_522delinsAT p.P174H Missense 3/26 - 1
12-122862081-G-T c.512C>A p.P171Q Missense 3/26 - 1
12-122862090-G-A c.503C>T p.P168L Missense 3/26 - 1
12-122862091-G-A c.502C>T p.P168S Missense 3/26 - 6
12-122862093-A-G c.500T>C p.I167T Missense 3/26 - 1
12-122862094-T-C c.499A>G p.I167V Missense 3/26 - 1
12-122862097-T-G c.496A>C p.N166H Missense 3/26 - 1
12-122862098-TGA-GTC c.493_495delinsGAC p.S165D Missense 3/26 - 1
12-122862099-G-C c.494C>G p.S165* Nonsense 3/26 - 3
12-122862099-G-T c.494C>A p.S165* Nonsense 3/26 - 2
12-122862109-A-G c.484T>C p.S162P Missense 3/26 - 2
12-122862110-G-A c.483C>T p.P161= Synonymous 3/26 - 2
12-122862112-G-A c.481C>T p.P161S Missense 3/26 - 1
12-122862112-G-T c.481C>A p.P161T Missense 3/26 - 2
12-122862113-G-A c.480C>T p.S160= Synonymous 3/26 - 1
12-122862113-G-C c.480C>G p.S160= Synonymous 3/26 - 1
12-122862113-G-T c.480C>A p.S160= Synonymous 3/26 - 1
12-122862120-GA-TC c.472_473inv p.S158D Missense 3/26 - 1
12-122862120-GA-TT c.472_473delinsAA p.S158N Missense 3/26 - 1
12-122862121-A-C c.472T>G p.S158A Missense 3/26 - 1
12-122862123-A-C c.470T>G p.V157G Missense 3/26 - 1
12-122862124-C-T c.469G>A p.V157M Missense 3/26 - 2
12-122862126-A-G c.467T>C p.M156T Missense 3/26 - 1
12-122862128-G-T c.465C>A p.S155R Missense 3/26 - 1
12-122862129-C-A c.464G>T p.S155I Missense 3/26 - 1
12-122862129-CT-AA c.463_464delinsTT p.S155F Missense 3/26 - 1
12-122862132-G-A c.461C>T p.A154V Missense 3/26 - 1
12-122862133-C-A c.460G>T p.A154S Missense 3/26 - 1
12-122862135-G-A c.458C>T p.T153M Missense 3/26 - 6
12-122862136-T-C c.457A>G p.T153A Missense 3/26 - 1
12-122862138-G-A c.455C>T p.S152F Missense 3/26 - 1
12-122862140-AG-CC c.452_453delinsGG p.T151R Missense 3/26 - 1
12-122862141-G-A c.452C>T p.T151I Missense 3/26 - 1
12-122862142-T-C c.451A>G p.T151A Missense 3/26 - 1
12-122862149-C-A c.444G>T p.P148= Synonymous 3/26 - 1
12-122862149-C-G c.444G>C p.P148= Synonymous 3/26 - 1
12-122862149-C-T c.444G>A p.P148= Synonymous 3/26 - 2
12-122862150-G-A c.443C>T p.P148L Missense 3/26 - 1
12-122862152-T-A c.441A>T p.S147= Synonymous 3/26 - 1
12-122862152-T-C c.441A>G p.S147= Synonymous 3/26 - 1
12-122862152-T-G c.441A>C p.S147= Synonymous 3/26 - 1
12-122862153-G-A c.440C>T p.S147L Missense 3/26 - 2
12-122862153-GA-TC c.439_440inv p.S147E Missense 3/26 - 1
12-122862154-A-C c.439T>G p.S147A Missense 3/26 - 1
12-122862154-A-G c.439T>C p.S147P Missense 3/26 - 1
12-122862160-C-T c.433G>A p.A145T Missense 3/26 - 1
12-122862162-C-G c.431G>C p.R144P Missense 3/26 - 1
12-122862162-C-T c.431G>A p.R144Q Missense 3/26 - 1
12-122862163-G-A c.430C>T p.R144* Nonsense 3/26 - 3
12-122862164-G-A c.429C>T p.S143= Synonymous 3/26 - 1
12-122862164-G-C c.429C>G p.S143= Synonymous 3/26 - 1
12-122862164-G-T c.429C>A p.S143= Synonymous 3/26 - 1
12-122862168-G-A c.425C>T p.A142V Missense 3/26 - 6
12-122862169-C-T c.424G>A p.A142T Missense 3/26 - 2
12-122862170-G-A c.423C>T p.P141= Synonymous 3/26 - 2
12-122862171-G-C c.422C>G p.P141R Missense 3/26 - 1
12-122862173-CG-GA c.419_420delinsTC p.T140I Missense 3/26 - 1
12-122862174-G-A c.419C>T p.T140M Missense 3/26 - 1
12-122862174-G-C c.419C>G p.T140R Missense 3/26 - 1
12-122862175-T-C c.418A>G p.T140A Missense 3/26 - 1
12-122862176-T-A c.417A>T p.T139= Synonymous 3/26 - 1
12-122862187-C-T c.406G>A p.G136S Missense 3/26 - 1
12-122862191-A-C c.402T>G p.A134= Synonymous 3/26 - 3
12-122862191-A-G c.402T>C p.A134= Synonymous 3/26 - 3
12-122862191-A-T c.402T>A p.A134= Synonymous 3/26 - 3
12-122862192-G-C c.401C>G p.A134G Missense 3/26 - 1
12-122862199-C-T c.394G>A p.D132N Missense 3/26 - 1
12-122862209-C-A c.384G>T p.V128= Synonymous 3/26 - 1
12-122862209-C-G c.384G>C p.V128= Synonymous 3/26 - 1
12-122862209-C-T c.384G>A p.V128= Synonymous 3/26 - 1
12-122862212-C-T c.381G>A p.K127= Synonymous 3/26 - 1
12-122862215-CC-GA c.377_378delinsTC p.R126I Missense 3/26 - 1
12-122862216-C-A c.377G>T p.R126M Missense 3/26 - 1
12-122862216-C-T c.377G>A p.R126K Missense 3/26 - 1
12-122862218-T-A c.375A>T p.T125= Synonymous 3/26 - 1
12-122862218-T-C c.375A>G p.T125= Synonymous 3/26 - 1
12-122862218-T-G c.375A>C p.T125= Synonymous 3/26 - 1
12-122862220-T-C c.373A>G p.T125A Missense 3/26 - 1
12-122862224-C-G c.369G>C p.K123N Missense 3/26 - 1
12-122862225-TT-GC c.367_368delinsGC p.K123A Missense 3/26 - 1
12-122862233-T-A c.360A>T p.R120= Synonymous 3/26 - 1
12-122862233-T-C c.360A>G p.R120= Synonymous 3/26 - 1
12-122862233-T-G c.360A>C p.R120= Synonymous 3/26 - 1
12-122862235-G-A c.358C>T p.R120* Nonsense 3/26 - 4
12-122862235-G-T c.358C>A p.R120= Synonymous 3/26 - 1
12-122862236-G-A c.357C>T p.T119= Synonymous 3/26 - 1
12-122862236-G-C c.357C>G p.T119= Synonymous 3/26 - 1
12-122862236-G-T c.357C>A p.T119= Synonymous 3/26 - 1
12-122862243-A-G c.350T>C p.I117T Missense 3/26 - 5
12-122862244-T-C c.349A>G p.I117V Missense 3/26 - 2
12-122862245-G-A c.348C>T p.G116= Synonymous 3/26 - 2
12-122862245-G-C c.348C>G p.G116= Synonymous 3/26 - 2
12-122862245-G-T c.348C>A p.G116= Synonymous 3/26 - 2
12-122862246-C-T c.347G>A p.G116D Missense 3/26 - 1
12-122862247-C-T c.346G>A p.G116S Missense 3/26 - 1
12-122862248-C-A c.345G>T p.K115N Missense 3/26 - 1
12-122862248-C-G c.345G>C p.K115N Missense 3/26 - 1
12-122862260-A-G c.333T>C p.C111= Synonymous 3/26 - 1
12-122862261-C-T c.332G>A p.C111Y Missense 3/26 - 1
12-122862264-T-A c.329A>T p.Q110L Missense 3/26 - 1
12-122862265-G-A c.328C>T p.Q110* Nonsense 3/26 - 4
12-122862267-A-T c.326T>A p.F109Y Missense 3/26 - 1
12-122862272-CC-AT c.320_321delinsAT p.R107H Missense 3/26 - 1
12-122862273-C-T c.320G>A p.R107Q Missense 3/26 - 2
12-122862272-C-A c.321G>T p.R107= Synonymous 3/26 - 2
12-122862272-C-G c.321G>C p.R107= Synonymous 3/26 - 2
12-122862272-C-T c.321G>A p.R107= Synonymous 3/26 - 2
12-122862274-G-A c.319C>T p.R107W Missense 3/26 - 4
12-122862274-G-T c.319C>A p.R107= Synonymous 3/26 - 3
12-122862276-A-G c.317T>C p.V106A Missense 3/26 - 1
12-122862283-C-T c.310G>A p.A104T Missense 3/26 - 1
12-122862287-C-A c.306G>T p.S102= Synonymous 3/26 - 2
12-122862287-C-G c.306G>C p.S102= Synonymous 3/26 - 1
12-122862287-C-T c.306G>A p.S102= Synonymous 3/26 - 5
12-122862288-G-A c.305C>T p.S102L Missense 3/26 - 1
12-122862289-A-G c.304T>C p.S102P Missense 3/26 - 1
12-122862295-C-T c.298G>A p.D100N Missense 3/26 - 1
12-122862298-T-C c.295A>G p.N99D Missense 3/26 - 2
12-122862299-C-G c.294G>C p.K98N Missense 3/26 - 1
12-122862300-T-C c.293A>G p.K98R Missense 3/26 - 2
12-122862301-T-C c.292A>G p.K98E Missense 3/26 - 3
12-122862307-T-C c.286A>G p.I96V Missense 3/26 - 1
12-122862313-C-T c.280G>A p.E94K Missense 3/26 - 1
12-122862317-T-A c.276A>T p.L92F Missense 3/26 - 1
12-122862317-T-G c.276A>C p.L92F Missense 3/26 - 1
12-122862318-A-C c.275T>G p.L92* Nonsense 3/26 - 1
12-122862318-A-G c.275T>C p.L92S Missense 3/26 - 1
12-122862322-C-G c.271G>C p.V91L Missense 3/26 - 1
12-122862329-A-C c.264T>G p.A88= Synonymous 3/26 - 1
12-122862329-A-G c.264T>C p.A88= Synonymous 3/26 - 1
12-122862329-A-T c.264T>A p.A88= Synonymous 3/26 - 1
12-122862330-G-C c.263C>G p.A88G Missense 3/26 - 1
12-122862331-C-G c.262G>C p.A88P Missense 3/26 - 3
12-122862333-C-A c.260G>T p.W87L Missense 3/26 - 2
12-122862335-C-A c.258G>T p.Q86H Missense 3/26 - 1
12-122862335-C-G c.258G>C p.Q86H Missense 3/26 - 1
12-122862336-T-C c.257A>G p.Q86R Missense 3/26 - 1
12-122862337-G-C c.256C>G p.Q86E Missense 3/26 - 1
12-122862338-G-A c.255C>T p.G85= Synonymous 3/26 - 1
12-122862338-G-C c.255C>G p.G85= Synonymous 3/26 - 1
12-122862338-G-T c.255C>A p.G85= Synonymous 3/26 - 1
12-122862339-C-T c.254G>A p.G85D Missense 3/26 - 1
12-122862344-TGC-ACA c.247_249delinsTGT p.A83C Missense 3/26 - 1
12-122862358-C-T c.235G>A p.E79K Missense 3/26 - 1
12-122862361-C-T c.232G>A p.G78R Missense 3/26 - 2
12-122862369-T-A c.224A>T p.Q75L Missense 3/26 - 2
12-122862370-G-C c.223C>G p.Q75E Missense 3/26 - 2
12-122862371-G-C c.222C>G p.I74M Missense 3/26 - 3
12-122862378-C-T c.215G>A p.G72E Missense 3/26 - 1
12-122862382-G-T c.211C>A p.P71T Missense 3/26 - 1
12-122862383-C-A c.210G>T p.K70N Missense 3/26 - 1
12-122862383-C-G c.210G>C p.K70N Missense 3/26 - 1
12-122862384-TT-GC c.208_209delinsGC p.K70A Missense 3/26 - 1
12-122862387-T-C c.206A>G p.N69S Missense 3/26 - 1
12-122862393-T-C c.200A>G p.N67S Missense 3/26 - 1
12-122862394-T-C c.199A>G p.N67D Missense 3/26 - 1
12-122862394-T-G c.199A>C p.N67H Missense 3/26 - 1
12-122862398-C-T c.195G>A p.W65* Nonsense 3/26 - 1
12-122862403-C-A c.190G>T p.V64F Missense 3/26 - 2
12-122862405-CG-TT c.187_188delinsAA p.R63K Missense 3/26 - 1
12-122862406-G-A c.187C>T p.R63* Nonsense 3/26 - 1
12-122862409-C-A c.184G>T p.E62* Nonsense 3/26 - 2
12-122862409-C-G c.184G>C p.E62Q Missense 3/26 - 1
12-122862409-C-T c.184G>A p.E62K Missense 3/26 - 2
12-122862410-C-A c.183G>T p.G61= Synonymous 3/26 - 1
12-122862410-C-G c.183G>C p.G61= Synonymous 3/26 - 1
12-122862410-C-T c.183G>A p.G61= Synonymous 3/26 - 1
12-122862411-C-T c.182G>A p.G61E Missense 3/26 - 1
12-122862415-C-A c.178G>T p.V60F Missense 3/26 - 1
12-122862415-C-G c.178G>C p.V60L Missense 3/26 - 1
12-122862417-C-A c.176G>T p.R59L Missense 3/26 - 1
12-122862417-C-T c.176G>A p.R59Q Missense 3/26 - 1
12-122862416-T-A c.177A>T p.R59= Synonymous 3/26 - 2
12-122862416-T-C c.177A>G p.R59= Synonymous 3/26 - 2
12-122862416-T-G c.177A>C p.R59= Synonymous 3/26 - 2
12-122862418-G-A c.175C>T p.R59* Nonsense 3/26 - 7
12-122862418-G-C c.175C>G p.R59G Missense 3/26 - 1
12-122862418-G-T c.175C>A p.R59= Synonymous 3/26 - 2
12-122862424-C-T c.169G>A p.D57N Missense 3/26 - 1
12-122862425-A-C c.168T>G p.D56E Missense 3/26 - 1
12-122862425-A-T c.168T>A p.D56E Missense 3/26 - 1
12-122862426-T-G c.167A>C p.D56A Missense 3/26 - 1
12-122862435-T-C c.158A>G p.E53G Missense 3/26 - 1
12-122862436-C-T c.157G>A p.E53K Missense 3/26 - 1
12-122862439-C-T c.154G>A p.E52K Missense 3/26 - 3
12-122862450-G-A c.143C>T p.S48F Missense 3/26 - 1
12-122862453-G-C c.140C>G p.S47* Nonsense 3/26 - 3
12-122862453-G-T c.140C>A p.S47* Nonsense 3/26 - 2
12-122862455-T-A c.138A>T p.P46= Synonymous 3/26 - 2
12-122862455-T-C c.138A>G p.P46= Synonymous 3/26 - 2
12-122862455-T-G c.138A>C p.P46= Synonymous 3/26 - 2
12-122862456-G-A c.137C>T p.P46L Missense 3/26 - 1
12-122862458-AGT-CTC c.133_135delinsGAG p.T45E Missense 3/26 - 1
12-122862458-A-T c.135T>A p.T45= Synonymous 3/26 - 1
12-122862460-T-C c.133A>G p.T45A Missense 3/26 - 1
12-122862460-T-G c.133A>C p.T45P Missense 3/26 - 1
12-122862461-G-A c.132C>T p.S44= Synonymous 3/26 - 2
12-122862462-C-A c.131G>T p.S44I Missense 3/26 - 1
12-122862462-CT-AA c.130_131delinsTT p.S44F Missense 3/26 - 1
12-122862463-T-C c.130A>G p.S44G Missense 3/26 - 1
12-122862465-G-A c.128C>T p.S43L Missense 3/26 - 1
12-122862466-A-C c.127T>G p.S43A Missense 3/26 - 1
12-122862467-TGC-ATA c.124_126delinsTAT p.A42Y Missense 3/26 - 2
12-122862468-G-A c.125C>T p.A42V Missense 3/26 - 1
12-122862468-G-T c.125C>A p.A42E Missense 3/26 - 1
12-122862469-C-T c.124G>A p.A42T Missense 3/26 - 1
12-122862473-TTC-AAA c.118_120delinsTTT p.E40F Missense 3/26 - 1
12-122862477-C-A c.116G>T p.S39I Missense 3/26 - 1
12-122862477-C-G c.116G>C p.S39T Missense 3/26 - 1
12-122862477-C-T c.116G>A p.S39N Missense 3/26 - 1
12-122862485-G-T c.108C>A p.T36= Synonymous 3/26 - 1
12-122862486-G-A c.107C>T p.T36I Missense 3/26 - 3
12-122862486-G-C c.107C>G p.T36S Missense 3/26 - 1
12-122862486-G-T c.107C>A p.T36N Missense 3/26 - 1
12-122862490-T-A c.103A>T p.K35* Nonsense 3/26 - 1
12-122862486-GT-G c.106del p.T36Pfs*31 Frameshift 3/26 - 1
12-122862494-TAC-ACA c.97_99delinsTGT p.V33C Missense 3/26 - 1
12-122862495-AC-TA c.97_98delinsTA p.V33* Nonsense 3/26 - 1
12-122862496-C-A c.97G>T p.V33L Missense 3/26 - 2
12-122862496-C-G c.97G>C p.V33L Missense 3/26 - 1
12-122862499-G-A c.94C>T p.P32S Missense 3/26 - 1
12-122862501-GC-AG c.91_92delinsCT p.A31L Missense 3/26 - 1
12-122862502-C-A c.91G>T p.A31S Missense 3/26 - 1
12-122862560-C-G c.86-53G>C - IntronicSNV - 2/25 3
12-122862697-G-C c.86-190C>G - IntronicSNV - 2/25 1
12-122864566-T-C c.85+349A>G - IntronicSNV - 2/25 1
12-122864727-C-T c.85+188G>A - IntronicSNV - 2/25 1
12-122864916-AG-CT c.83_84inv p.A28E Missense 2/26 - 1
12-122864916-AGC-TTA c.82_84delinsTAA p.A28* Nonsense 2/26 - 2
12-122864917-GC-CA c.82_83delinsTG p.A28C Missense 2/26 - 2
12-122864918-C-T c.82G>A p.A28T Missense 2/26 - 1
12-122864919-C-A c.81G>T p.T27= Synonymous 2/26 - 1
12-122864919-C-G c.81G>C p.T27= Synonymous 2/26 - 1
12-122864919-C-T c.81G>A p.T27= Synonymous 2/26 - 3
12-122864920-G-A c.80C>T p.T27M Missense 2/26 - 16
12-122864923-G-A c.77C>T p.P26L Missense 2/26 - 1
12-122864923-G-T c.77C>A p.P26H Missense 2/26 - 2
12-122864925-T-A c.75A>T p.T25= Synonymous 2/26 - 1
12-122864925-T-C c.75A>G p.T25= Synonymous 2/26 - 1
12-122864925-T-G c.75A>C p.T25= Synonymous 2/26 - 1
12-122864926-GT-TC c.73_74delinsGA p.T25E Missense 2/26 - 1
12-122864927-T-C c.73A>G p.T25A Missense 2/26 - 1
12-122864927-T-G c.73A>C p.T25P Missense 2/26 - 1
12-122864932-A-G c.68T>C p.L23P Missense 2/26 - 1
12-122864932-AG-GC c.67_68delinsGC p.L23A Missense 2/26 - 2
12-122864934-AGC-TTA c.64_66delinsTAA p.A22* Nonsense 2/26 - 1
12-122864936-C-T c.64G>A p.A22T Missense 2/26 - 1
12-122864940-TG-T c.60del p.S20Rfs*4 Frameshift 2/26 - 1
12-122864941-C-T c.59G>A p.S20N Missense 2/26 - 1
12-122864941-CT-GC c.58_59delinsGC p.S20A Missense 2/26 - 1
12-122864944-C-A c.56G>T p.G19V Missense 2/26 - 1
12-122864947-G-A c.53C>T p.P18L Missense 2/26 - 1
12-122864948-G-A c.52C>T p.P18S Missense 2/26 - 1
12-122864949-C-A c.51G>T p.K17N Missense 2/26 - 1
12-122864949-C-G c.51G>C p.K17N Missense 2/26 - 1
12-122864952-C-G c.48G>C p.L16= Synonymous 2/26 - 1
12-122864956-A-T c.44T>A p.I15N Missense 2/26 - 1
12-122864957-T-TA c.42_43insT p.I15Yfs*26 Frameshift 2/26 - 1
12-122864958-C-A c.42G>T p.K14N Missense 2/26 - 2
12-122864958-C-G c.42G>C p.K14N Missense 2/26 - 1
12-122864959-T-C c.41A>G p.K14R Missense 2/26 - 1
12-122864962-G-T c.38C>A p.T13N Missense 2/26 - 1
12-122864962-GT-CC c.37_38delinsGG p.T13G Missense 2/26 - 1
12-122864967-G-A c.33C>T p.A11= Synonymous 2/26 - 1
12-122864967-GGC-CAT c.31_33delinsATG p.A11M Missense 2/26 - 1
12-122864967-GG-CT c.32_33delinsAG p.A11E Missense 2/26 - 1
12-122864968-GC-CG c.31_32delinsCG p.A11R Missense 2/26 - 1
12-122864968-GC-TA c.31_32delinsTA p.A11Y Missense 2/26 - 1
12-122864968-GC-TT c.31_32delinsAA p.A11N Missense 2/26 - 1
12-122864969-C-G c.31G>C p.A11P Missense 2/26 - 1
12-122864970-C-A c.30G>T p.K10N Missense 2/26 - 1
12-122864970-C-G c.30G>C p.K10N Missense 2/26 - 1
12-122864971-TT-GC c.28_29delinsGC p.K10A Missense 2/26 - 1
12-122864975-G-A c.25C>T p.L9F Missense 2/26 - 1
12-122864976-C-A c.24G>T p.G8= Synonymous 2/26 - 1
12-122864976-C-G c.24G>C p.G8= Synonymous 2/26 - 2
12-122864976-C-T c.24G>A p.G8= Synonymous 2/26 - 1
12-122864981-T-C c.19A>G p.S7G Missense 2/26 - 1
12-122864982-T-A c.18A>T p.P6= Synonymous 2/26 - 1
12-122864982-T-C c.18A>G p.P6= Synonymous 2/26 - 1
12-122864982-T-G c.18A>C p.P6= Synonymous 2/26 - 1
12-122864983-G-A c.17C>T p.P6L Missense 2/26 - 1
12-122864990-G-A c.10C>T p.L4= Synonymous 2/26 - 2
12-122864993-T-C c.7A>G p.M3V Missense 2/26 - 3
12-122864994-A-G c.6T>C p.S2= Synonymous 2/26 - 2
12-122864997-C-A c.3G>T p.M1? Missense 2/26 - 1
12-122864997-C-G c.3G>C p.M1? Missense 2/26 - 2
12-122864997-C-T c.3G>A p.M1? Missense 2/26 - 1
12-122865029-T-A c.-30A>T - 5-UTRSNV 2/26 - 7
12-122865029-T-C c.-30A>G - 5-UTRSNV 2/26 - 7
12-122869026-A-G c.-106-3921T>C - IntronicSNV - 1/25 1
12-122873928-A-C c.-106-8823T>G - IntronicSNV - 1/25 1
12-122873928-A-G c.-106-8823T>C - IntronicSNV - 1/25 1
12-122874855-A-G c.-106-9750T>C - IntronicSNV - 1/25 1
12-122874855-A-T c.-106-9750T>A - IntronicSNV - 1/25 1
12-122877374-G-T c.-106-12269C>A - IntronicSNV - 1/25 2
12-122884076-C-T c.-106-18971G>A - IntronicSNV - 1/25 2
12-122893492-A-G c.-107+13576T>C - intron_variant - 1/25 1
12-122893492-A-T c.-107+13576T>A - intron_variant - 1/25 1
12-122905500-T-G c.-107+1568A>C - intron_variant - 1/25 1