1-241661141-A-G |
c.1520T>C |
p.Leu507Pro |
Missense |
10/10 |
- |
1 |
1-241661151-T-C |
c.1510A>G |
p.Lys504Glu |
Missense |
10/10 |
- |
1 |
1-241661154-G-C |
c.1507C>G |
p.Pro503Ala |
Missense |
10/10 |
- |
3 |
1-241661221-T-TT |
c.1441dup |
p.Thr481Asnfs*18 |
Frameshift |
10/10 |
- |
1 |
1-241661222-G-C |
c.1439C>G |
p.Ser480* |
Nonsense |
10/10 |
- |
1 |
1-241661223-A-C |
c.1438T>G |
p.Ser480Ala |
Missense |
10/10 |
- |
1 |
1-241661226-C-CCTT |
c.1434_1435insAAG |
p.Asn478_Gly479insLys |
InFrameInsertion |
10/10 |
- |
1 |
1-241661230-TTT-TTTTTT |
c.1431_1433dup |
p.Lys477dup |
InFrameInsertion |
10/10 |
- |
2 |
1-241661240-G-C |
c.1421C>G |
p.Thr474Arg |
Missense |
10/10 |
- |
1 |
1-241661250-T-C |
c.1411A>G |
p.Ile471Val |
Missense |
10/10 |
- |
1 |
1-241661261-T-C |
c.1400A>G |
p.Lys467Arg |
Missense |
10/10 |
- |
1 |
1-241661262-T-A |
c.1399A>T |
p.Lys467* |
Nonsense |
10/10 |
- |
1 |
1-241661267-T-C |
c.1394A>G |
p.Tyr465Cys |
Missense |
10/10 |
- |
1 |
1-241661268-A-T |
c.1393T>A |
p.Tyr465Asn |
Missense |
10/10 |
- |
1 |
1-241661271-C-T |
c.1391-1G>A |
- |
IntronicSNV |
- |
9/9 |
1 |
1-241663731-A-T |
c.1390+6T>A |
- |
IntronicSNV |
- |
9/9 |
1 |
1-241663735-TA-T |
c.1390+2del |
- |
IntronicDeletion |
- |
9/9 |
1 |
1-241663743-G-C |
c.1384C>G |
p.His462Asp |
Missense |
9/10 |
- |
1 |
1-241663750-G-A |
c.1377C>T |
p.Leu459Leu |
Synonymous |
9/10 |
- |
1 |
1-241663750-G-C |
c.1377C>G |
p.Leu459Leu |
Synonymous |
9/10 |
- |
1 |
1-241663750-G-T |
c.1377C>A |
p.Leu459Leu |
Synonymous |
9/10 |
- |
1 |
1-241663751-A-C |
c.1376T>G |
p.Leu459Arg |
Missense |
9/10 |
- |
1 |
1-241663765-C-A |
c.1362G>T |
p.Met454Ile |
Missense |
9/10 |
- |
1 |
1-241663765-C-G |
c.1362G>C |
p.Met454Ile |
Missense |
9/10 |
- |
1 |
1-241663765-C-T |
c.1362G>A |
p.Met454Ile |
Missense |
9/10 |
- |
1 |
1-241663785-G-C |
c.1342C>G |
p.Leu448Val |
Missense |
9/10 |
- |
1 |
1-241663794-T-A |
c.1333A>T |
p.Ile445Phe |
Missense |
9/10 |
- |
1 |
1-241663799-TT-T |
c.1330del |
p.Arg444Glyfs*5 |
Frameshift |
9/10 |
- |
1 |
1-241663811-T-G |
c.1316A>C |
p.Gln439Pro |
Missense |
9/10 |
- |
1 |
1-241663817-C-G |
c.1310G>C |
p.Gly437Ala |
Missense |
9/10 |
- |
2 |
1-241663820-A-T |
c.1307T>A |
p.Val436Glu |
Missense |
9/10 |
- |
1 |
1-241663821-C-T |
c.1306G>A |
p.Val436Met |
Missense |
9/10 |
- |
1 |
1-241663823-A-G |
c.1304T>C |
p.Val435Ala |
Missense |
9/10 |
- |
1 |
1-241663827-A-G |
c.1300T>C |
p.Cys434Arg |
Missense |
9/10 |
- |
1 |
1-241663833-C-T |
c.1294G>A |
p.Glu432Lys |
Missense |
9/10 |
- |
1 |
1-241663847-G-A |
c.1280C>T |
p.Ser427Leu |
Missense |
9/10 |
- |
1 |
1-241663850-G-A |
c.1277C>T |
p.Ala426Val |
Missense |
9/10 |
- |
1 |
1-241663853-T-A |
c.1274A>T |
p.Asp425Val |
Missense |
9/10 |
- |
1 |
1-241663853-T-C |
c.1274A>G |
p.Asp425Gly |
Missense |
9/10 |
- |
1 |
1-241663856-C-G |
c.1271G>C |
p.Gly424Ala |
Missense |
9/10 |
- |
1 |
1-241663859-A-G |
c.1268T>C |
p.Leu423Pro |
Missense |
9/10 |
- |
2 |
1-241663865-CT-GC |
c.1261_1262delinsGC |
p.Arg421Ala |
Missense |
9/10 |
- |
1 |
1-241663865-CT-TA |
c.1261_1262delinsTA |
p.Arg421* |
Nonsense |
9/10 |
- |
1 |
1-241663869-C-A |
c.1258G>T |
p.Ala420Ser |
Missense |
9/10 |
- |
1 |
1-241663871-G-A |
c.1256C>T |
p.Ser419Leu |
Missense |
9/10 |
- |
1 |
1-241663871-G-C |
c.1256C>G |
p.Ser419* |
Nonsense |
9/10 |
- |
2 |
1-241663871-G-T |
c.1256C>A |
p.Ser419* |
Nonsense |
9/10 |
- |
2 |
1-241663872-A-G |
c.1255T>C |
p.Ser419Pro |
Missense |
9/10 |
- |
1 |
1-241663875-G-A |
c.1252C>T |
p.His418Tyr |
Missense |
9/10 |
- |
2 |
1-241663887-TT-T |
c.1244del |
p.Asn415Metfs*34 |
Frameshift |
9/10 |
- |
1 |
1-241665743-C-A |
c.1236G>T |
p.Met412Ile |
Missense |
8/10 |
- |
1 |
1-241665743-C-G |
c.1236G>C |
p.Met412Ile |
Missense |
8/10 |
- |
1 |
1-241665743-C-T |
c.1236G>A |
p.Met412Ile |
Missense |
8/10 |
- |
1 |
1-241665745-AT-A |
c.1234del |
p.Met412* |
Frameshift |
8/10 |
- |
1 |
1-241665765-A-G |
c.1214T>C |
p.Leu405Ser |
Missense |
8/10 |
- |
1 |
1-241665767-C-G |
c.1212G>C |
p.Glu404Asp |
Missense |
8/10 |
- |
2 |
1-241665769-C-A |
c.1210G>T |
p.Glu404* |
Nonsense |
8/10 |
- |
2 |
1-241665773-AA-A |
c.1209del |
p.Phe403Leufs*3 |
Frameshift |
8/10 |
- |
1 |
1-241665774-AT-A |
c.1205del |
p.His402Leufs*4 |
Frameshift |
8/10 |
- |
1 |
1-241665775-G-A |
c.1204C>T |
p.His402Tyr |
Missense |
8/10 |
- |
6 |
1-241665777-C-A |
c.1202G>T |
p.Gly401Val |
Missense |
8/10 |
- |
1 |
1-241665779-CA-C |
c.1200del |
p.Asn400Lysfs*6 |
Frameshift |
8/10 |
- |
1 |
1-241665780-T-C |
c.1199A>G |
p.Asn400Ser |
Missense |
8/10 |
- |
1 |
1-241665784-T-C |
c.1195A>G |
p.Ser399Gly |
Missense |
8/10 |
- |
1 |
1-241665785-G-A |
c.1194C>T |
p.Gly398Gly |
Synonymous |
8/10 |
- |
3 |
1-241665788-TCC-AGC |
c.1190_1191delinsCT |
p.Gly397Ala |
Missense |
8/10 |
- |
1 |
1-241665789-C-G |
c.1190G>C |
p.Gly397Ala |
Missense |
8/10 |
- |
1 |
1-241665790-C-T |
c.1189G>A |
p.Gly397Arg |
Missense |
8/10 |
- |
11 |
1-241665793-C-G |
c.1186G>C |
p.Val396Leu |
Missense |
8/10 |
- |
1 |
1-241665799-C-G |
c.1180G>C |
p.Val394Leu |
Missense |
8/10 |
- |
1 |
1-241665817-AT-A |
c.1162del |
p.Met388Trpfs*18 |
Frameshift |
8/10 |
- |
1 |
1-241665825-G-T |
c.1154C>A |
p.Ala385Asp |
Missense |
8/10 |
- |
1 |
1-241665835-T-C |
c.1144A>G |
p.Met382Val |
Missense |
8/10 |
- |
2 |
1-241665842-T-TT |
c.1138dup |
p.Met380Asnfs*25 |
Frameshift |
8/10 |
- |
4 |
1-241665849-C-A |
c.1130G>T |
p.Cys377Phe |
Missense |
8/10 |
- |
1 |
1-241665850-A-C |
c.1129T>G |
p.Cys377Gly |
Missense |
8/10 |
- |
1 |
1-241665852-T-G |
c.1127A>C |
p.Gln376Pro |
Missense |
8/10 |
- |
2 |
1-241665856-GT-G |
c.1123del |
p.Thr375Leufs*6 |
Frameshift |
8/10 |
- |
1 |
1-241665859-G-A |
c.1120C>T |
p.Pro374Ser |
Missense |
8/10 |
- |
1 |
1-241665861-T-C |
c.1118A>G |
p.Asn373Ser |
Missense |
8/10 |
- |
1 |
1-241665868-T-A |
c.1111A>T |
p.Lys371* |
Nonsense |
8/10 |
- |
1 |
1-241665868-T-C |
c.1111A>G |
p.Lys371Glu |
Missense |
8/10 |
- |
1 |
1-241667345-G-A |
c.1105C>T |
p.Pro369Ser |
Missense |
7/10 |
- |
1 |
1-241667347-A-G |
c.1103T>C |
p.Met368Thr |
Missense |
7/10 |
- |
1 |
1-241667347-AT-GC |
c.1102_1103delinsGC |
p.Met368Ala |
Missense |
7/10 |
- |
1 |
1-241667350-A-T |
c.1100T>A |
p.Ile367Asn |
Missense |
7/10 |
- |
1 |
1-241667353-C-T |
c.1097G>A |
p.Ser366Asn |
Missense |
7/10 |
- |
2 |
1-241667357-T-C |
c.1093A>G |
p.Ser365Gly |
Missense |
7/10 |
- |
1 |
1-241667365-T-G |
c.1085A>C |
p.Glu362Ala |
Missense |
7/10 |
- |
1 |
1-241667366-C-G |
c.1084G>C |
p.Glu362Gln |
Missense |
7/10 |
- |
3 |
1-241667366-TCATT-T |
c.1083_1086del |
p.Glu362Glnfs*10 |
Frameshift |
7/10 |
- |
1 |
1-241667367-A-C |
c.1083T>G |
p.Asn361Lys |
Missense |
7/10 |
- |
1 |
1-241667367-A-T |
c.1083T>A |
p.Asn361Lys |
Missense |
7/10 |
- |
1 |
1-241667369-T-TA |
c.1080_1081insT |
p.Asn361* |
Nonsense |
7/10 |
- |
1 |
1-241667372-C-G |
c.1078G>C |
p.Glu360Gln |
Missense |
7/10 |
- |
1 |
1-241667379-G-C |
c.1071C>G |
p.Ile357Met |
Missense |
7/10 |
- |
1 |
1-241667383-A-T |
c.1067T>A |
p.Leu356* |
Nonsense |
7/10 |
- |
1 |
1-241667387-C-T |
c.1063G>A |
p.Glu355Lys |
Missense |
7/10 |
- |
1 |
1-241667390-C-T |
c.1060G>A |
p.Gly354Arg |
Missense |
7/10 |
- |
5 |
1-241667395-C-T |
c.1055G>A |
p.Gly352Asp |
Missense |
7/10 |
- |
1 |
1-241667401-CG-TA |
c.1048_1049delinsTA |
p.Arg350* |
Nonsense |
7/10 |
- |
1 |
1-241667402-G-A |
c.1048C>T |
p.Arg350Trp |
Missense |
7/10 |
- |
3 |
1-241667409-CA-C |
c.1041del |
p.Gly348Valfs*9 |
Frameshift |
7/10 |
- |
1 |
1-241667411-A-C |
c.1039T>G |
p.Ser347Ala |
Missense |
7/10 |
- |
1 |
1-241667422-CG-GC |
c.1027_1028delinsGC |
p.Arg343Ala |
Missense |
7/10 |
- |
1 |
1-241667423-G-A |
c.1027C>T |
p.Arg343* |
Nonsense |
7/10 |
- |
3 |
1-241667429-C-A |
c.1021G>T |
p.Asp341Tyr |
Missense |
7/10 |
- |
1 |
1-241667429-C-T |
c.1021G>A |
p.Asp341Asn |
Missense |
7/10 |
- |
3 |
1-241667430-A-T |
c.1020T>A |
p.Asn340Lys |
Missense |
7/10 |
- |
3 |
1-241667435-C-T |
c.1015G>A |
p.Ala339Thr |
Missense |
7/10 |
- |
1 |
1-241667438-T-A |
c.1012A>T |
p.Ile338Leu |
Missense |
7/10 |
- |
1 |
1-241667445-C-CG |
c.1004_1005insC |
p.Met336Aspfs*6 |
Frameshift |
7/10 |
- |
1 |
1-241667446-A-G |
c.1004T>C |
p.Leu335Pro |
Missense |
7/10 |
- |
1 |
1-241667448-A-C |
c.1002T>G |
p.Ser334Arg |
Missense |
7/10 |
- |
5 |
1-241667452-C-T |
c.998G>A |
p.Cys333Tyr |
Missense |
7/10 |
- |
1 |
1-241667462-T-C |
c.988A>G |
p.Thr330Ala |
Missense |
7/10 |
- |
1 |
1-241667462-T-G |
c.988A>C |
p.Thr330Pro |
Missense |
7/10 |
- |
1 |
1-241667471-C-T |
c.979G>A |
p.Ala327Thr |
Missense |
7/10 |
- |
1 |
1-241667475-A-C |
c.975T>G |
p.Ser325Arg |
Missense |
7/10 |
- |
1 |
1-241667475-A-T |
c.975T>A |
p.Ser325Arg |
Missense |
7/10 |
- |
1 |
1-241667477-T-G |
c.973A>C |
p.Ser325Arg |
Missense |
7/10 |
- |
1 |
1-241667476-C-T |
c.974G>A |
p.Ser325Asn |
Missense |
7/10 |
- |
1 |
1-241667478-GAG-ATG |
c.971_972delinsAT |
p.Leu324His |
Missense |
7/10 |
- |
1 |
1-241667485-A-T |
c.965T>A |
p.Val322Asp |
Missense |
7/10 |
- |
1 |
1-241667497-T-A |
c.953A>T |
p.His318Leu |
Missense |
7/10 |
- |
2 |
1-241667498-G-A |
c.952C>T |
p.His318Tyr |
Missense |
7/10 |
- |
7 |
1-241667504-C-T |
c.946G>A |
p.Ala316Thr |
Missense |
7/10 |
- |
1 |
1-241667506-A-G |
c.944T>C |
p.Leu315Pro |
Missense |
7/10 |
- |
1 |
1-241667509-G-A |
c.941C>T |
p.Ala314Val |
Missense |
7/10 |
- |
1 |
1-241667515-A-C |
c.935T>G |
p.Phe312Cys |
Missense |
7/10 |
- |
2 |
1-241667522-T-A |
c.928A>T |
p.Asn310Tyr |
Missense |
7/10 |
- |
1 |
1-241667523-C-G |
c.927G>C |
p.Pro309Pro |
Synonymous |
7/10 |
- |
1 |
1-241667523-C-T |
c.927G>A |
p.Pro309Pro |
Synonymous |
7/10 |
- |
1 |
1-241667525-G-A |
c.925C>T |
p.Pro309Ser |
Missense |
7/10 |
- |
1 |
1-241667528-C-T |
c.922G>A |
p.Ala308Thr |
Missense |
7/10 |
- |
4 |
1-241667530-G-A |
c.920C>T |
p.Thr307Ile |
Missense |
7/10 |
- |
1 |
1-241667536-A-G |
c.914T>C |
p.Phe305Ser |
Missense |
7/10 |
- |
1 |
1-241667540-GG-G |
c.911del |
p.Pro304Leufs*25 |
Frameshift |
7/10 |
- |
1 |
1-241667542-A-G |
c.908T>C |
p.Leu303Ser |
Missense |
7/10 |
- |
2 |
1-241667547-T-C |
c.905-2A>G |
- |
IntronicSNV |
- |
6/9 |
1 |
1-241669256-C-T |
c.904+47G>A |
- |
IntronicSNV |
- |
6/9 |
1 |
1-241669309-G-A |
c.898C>T |
p.Leu300Phe |
Missense |
6/10 |
- |
1 |
1-241669318-CT-GC |
c.888_889delinsGC |
p.Val297Leu |
Missense |
6/10 |
- |
1 |
1-241669324-C-T |
c.883G>A |
p.Ala295Thr |
Missense |
6/10 |
- |
1 |
1-241669345-C-T |
c.862G>A |
p.Gly288Ser |
Missense |
6/10 |
- |
1 |
1-241669347-AT-CA |
c.859_860delinsTG |
p.Ile287Cys |
Missense |
6/10 |
- |
1 |
1-241669351-T-C |
c.856A>G |
p.Arg286Gly |
Missense |
6/10 |
- |
1 |
1-241669361-AC-AG |
c.845delinsC |
p.Gly282Ala |
Missense |
6/10 |
- |
1 |
1-241669362-C-A |
c.845G>T |
p.Gly282Val |
Missense |
6/10 |
- |
1 |
1-241669362-C-T |
c.845G>A |
p.Gly282Asp |
Missense |
6/10 |
- |
1 |
1-241669363-C-A |
c.844G>T |
p.Gly282Cys |
Missense |
6/10 |
- |
1 |
1-241669363-C-G |
c.844G>C |
p.Gly282Arg |
Missense |
6/10 |
- |
1 |
1-241669371-AACA-A |
c.836_838del |
p.Val279del |
InFrameDeletion |
6/10 |
- |
2 |
1-241669371-A-T |
c.836T>A |
p.Val279Asp |
Missense |
6/10 |
- |
2 |
1-241669372-ACAGCAGTGCCTCCAGCTGCGA-A |
c.816_836del |
p.Ala273_Val279del |
InFrameDeletion |
6/10 |
- |
2 |
1-241669372-C-A |
c.835G>T |
p.Val279Phe |
Missense |
6/10 |
- |
1 |
1-241669379-G-T |
c.828C>A |
p.Gly276Gly |
Synonymous |
6/10 |
- |
1 |
1-241669380-CC-AC |
c.827delinsT |
p.Gly276Val |
Missense |
6/10 |
- |
1 |
1-241669382-TCC-AGC |
c.824_825delinsCT |
p.Gly275Ala |
Missense |
6/10 |
- |
1 |
1-241669383-C-G |
c.824G>C |
p.Gly275Ala |
Missense |
6/10 |
- |
1 |
1-241669383-C-T |
c.824G>A |
p.Gly275Glu |
Missense |
6/10 |
- |
2 |
1-241669386-G-A |
c.821C>T |
p.Ala274Val |
Missense |
6/10 |
- |
1 |
1-241669387-C-T |
c.820G>A |
p.Ala274Thr |
Missense |
6/10 |
- |
1 |
1-241669390-C-T |
c.817G>A |
p.Ala273Thr |
Missense |
6/10 |
- |
1 |
1-241669390-GCG-G |
c.817_818del |
p.Ala273Serfs*13 |
Frameshift |
6/10 |
- |
1 |
1-241669392-A-G |
c.815T>C |
p.Leu272Pro |
Missense |
6/10 |
- |
1 |
1-241669396-C-T |
c.811G>A |
p.Glu271Lys |
Missense |
6/10 |
- |
1 |
1-241669398-T-C |
c.809A>G |
p.Tyr270Cys |
Missense |
6/10 |
- |
1 |
1-241669401-A-G |
c.806T>C |
p.Ile269Thr |
Missense |
6/10 |
- |
1 |
1-241669403-TT-T |
c.805del |
p.Ile269Serfs*15 |
Frameshift |
6/10 |
- |
1 |
1-241669427-TT-T |
c.781del |
p.Arg261Glufs*2 |
Frameshift |
6/10 |
- |
1 |
1-241669437-T-A |
c.770A>T |
p.Tyr257Phe |
Missense |
6/10 |
- |
1 |
1-241669437-TA-GC |
c.769_770delinsGC |
p.Tyr257Ala |
Missense |
6/10 |
- |
1 |
1-241669450-G-A |
c.757C>T |
p.Gln253* |
Nonsense |
6/10 |
- |
1 |
1-241669452-A-G |
c.755T>C |
p.Val252Ala |
Missense |
6/10 |
- |
1 |
1-241669461-C-T |
c.746G>A |
p.Ser249Asn |
Missense |
6/10 |
- |
1 |
1-241669469-CC-C |
c.739del |
- |
Frameshift |
- |
5/9 |
1 |
1-241671903-CC-C |
c.738+1del |
- |
Frameshift |
5/10 |
- |
1 |
1-241671907-C-T |
c.734G>A |
p.Gly245Glu |
Missense |
5/10 |
- |
1 |
1-241671923-C-T |
c.718G>A |
p.Val240Ile |
Missense |
5/10 |
- |
1 |
1-241671926-C-A |
c.715G>T |
p.Ala239Ser |
Missense |
5/10 |
- |
1 |
1-241671926-C-T |
c.715G>A |
p.Ala239Thr |
Missense |
5/10 |
- |
1 |
1-241671928-T-G |
c.713A>C |
p.Asp238Ala |
Missense |
5/10 |
- |
1 |
1-241671934-GT-GA |
c.706delinsT |
p.Thr236Ser |
Missense |
5/10 |
- |
1 |
1-241671934-GT-TA |
c.706_707delinsTA |
p.Thr236Tyr |
Missense |
5/10 |
- |
1 |
1-241671935-T-C |
c.706A>G |
p.Thr236Ala |
Missense |
5/10 |
- |
1 |
1-241671936-A-T |
c.705T>A |
p.His235Gln |
Missense |
5/10 |
- |
1 |
1-241671938-G-A |
c.703C>T |
p.His235Tyr |
Missense |
5/10 |
- |
1 |
1-241671941-T-C |
c.700A>G |
p.Thr234Ala |
Missense |
5/10 |
- |
2 |
1-241671942-ACG-AAG |
c.698delinsT |
p.Arg233Leu |
Missense |
5/10 |
- |
1 |
1-241671943-C-A |
c.698G>T |
p.Arg233Leu |
Missense |
5/10 |
- |
2 |
1-241671943-C-T |
c.698G>A |
p.Arg233His |
Missense |
5/10 |
- |
12 |
1-241671944-G-A |
c.697C>T |
p.Arg233Cys |
Missense |
5/10 |
- |
3 |
1-241671948-CAATCTTGATGATCTGTGCAAACTCTTT-C |
c.667_693del |
p.Lys223_Ile231del |
InFrameDeletion |
5/10 |
- |
1 |
1-241671950-T-G |
c.691A>C |
p.Ile231Leu |
Missense |
5/10 |
- |
1 |
1-241671952-T-C |
c.689A>G |
p.Lys230Arg |
Missense |
5/10 |
- |
4 |
1-241671952-T-G |
c.689A>C |
p.Lys230Thr |
Missense |
5/10 |
- |
1 |
1-241671953-T-C |
c.688A>G |
p.Lys230Glu |
Missense |
5/10 |
- |
1 |
1-241671955-A-G |
c.686T>C |
p.Ile229Thr |
Missense |
5/10 |
- |
1 |
1-241671958-A-T |
c.683T>A |
p.Ile228Asn |
Missense |
5/10 |
- |
2 |
1-241671960-C-A |
c.681G>T |
p.Gln227His |
Missense |
5/10 |
- |
1 |
1-241671960-C-G |
c.681G>C |
p.Gln227His |
Missense |
5/10 |
- |
1 |
1-241671971-C-T |
c.670G>A |
p.Glu224Lys |
Missense |
5/10 |
- |
1 |
1-241671971-TCT-T |
c.671_672del |
p.Glu224Valfs*25 |
Frameshift |
5/10 |
- |
2 |
1-241671974-T-G |
c.667A>C |
p.Lys223Gln |
Missense |
5/10 |
- |
1 |
1-241671976-GG-G |
c.666del |
p.Glu224Serfs*32 |
Frameshift |
5/10 |
- |
1 |
1-241671979-T-C |
c.662A>G |
p.Lys221Arg |
Missense |
5/10 |
- |
2 |
1-241671980-T-G |
c.661A>C |
p.Lys221Gln |
Missense |
5/10 |
- |
1 |
1-241671980-TTTGCAT-T |
c.657_662del |
p.Asp219_Lys221delinsGlu |
MultiAAMissense |
5/10 |
- |
1 |
1-241671981-T-C |
c.660A>G |
p.Ala220Ala |
Synonymous |
5/10 |
- |
1 |
1-241671983-C-A |
c.658G>T |
p.Ala220Ser |
Missense |
5/10 |
- |
1 |
1-241671983-C-T |
c.658G>A |
p.Ala220Thr |
Missense |
5/10 |
- |
1 |
1-241671986-C-T |
c.655G>A |
p.Asp219Asn |
Missense |
5/10 |
- |
1 |
1-241671995-C-G |
c.646G>C |
p.Asp216His |
Missense |
5/10 |
- |
1 |
1-241671997-T-C |
c.644A>G |
p.His215Arg |
Missense |
5/10 |
- |
1 |
1-241672007-G-A |
c.634C>T |
p.Gln212* |
Nonsense |
5/10 |
- |
1 |
1-241672009-TAGT-T |
c.632_634del |
p.Leu211del |
InFrameDeletion |
5/10 |
- |
1 |
1-241672011-GT-G |
c.630del |
p.Leu211Tyrfs*45 |
Frameshift |
5/10 |
- |
1 |
1-241672015-G-T |
c.626C>A |
p.Pro209Gln |
Missense |
5/10 |
- |
1 |
1-241672018-A-C |
c.623T>G |
p.Leu208* |
Nonsense |
5/10 |
- |
1 |
1-241672036-T-A |
c.605A>T |
p.Glu202Val |
Missense |
5/10 |
- |
1 |
1-241672043-C-T |
c.598G>A |
p.Ala200Thr |
Missense |
5/10 |
- |
2 |
1-241672046-C-A |
c.595G>T |
p.Ala199Ser |
Missense |
5/10 |
- |
1 |
1-241672046-C-G |
c.595G>C |
p.Ala199Pro |
Missense |
5/10 |
- |
1 |
1-241672048-G-A |
c.593C>T |
p.Ala198Val |
Missense |
5/10 |
- |
1 |
1-241672049-C-G |
c.592G>C |
p.Ala198Pro |
Missense |
5/10 |
- |
1 |
1-241672054-T-A |
c.587A>T |
p.His196Leu |
Missense |
5/10 |
- |
1 |
1-241672054-T-C |
c.587A>G |
p.His196Arg |
Missense |
5/10 |
- |
4 |
1-241672054-T-G |
c.587A>C |
p.His196Pro |
Missense |
5/10 |
- |
1 |
1-241672057-A-G |
c.584T>C |
p.Met195Thr |
Missense |
5/10 |
- |
2 |
1-241672058-T-C |
c.583A>G |
p.Met195Val |
Missense |
5/10 |
- |
2 |
1-241672058-T-G |
c.583A>C |
p.Met195Leu |
Missense |
5/10 |
- |
1 |
1-241672063-G-A |
c.578C>T |
p.Thr193Ile |
Missense |
5/10 |
- |
1 |
1-241672066-G-A |
c.575C>T |
p.Pro192Leu |
Missense |
5/10 |
- |
2 |
1-241672078-T-C |
c.563A>G |
p.Asn188Ser |
Missense |
5/10 |
- |
2 |
1-241672078-T-G |
c.563A>C |
p.Asn188Thr |
Missense |
5/10 |
- |
1 |
1-241672079-T-C |
c.562A>G |
p.Asn188Asp |
Missense |
5/10 |
- |
1 |
1-241672081-G-A |
c.560C>T |
p.Ser187Leu |
Missense |
5/10 |
- |
1 |
1-241672081-G-C |
c.560C>G |
p.Ser187* |
Nonsense |
5/10 |
- |
2 |
1-241672081-G-T |
c.560C>A |
p.Ser187* |
Nonsense |
5/10 |
- |
2 |
1-241672087-T-A |
c.556-2A>T |
- |
IntronicSNV |
- |
4/9 |
1 |
1-241675267-C-A |
c.555G>T |
p.Gln185His |
Missense |
4/10 |
- |
1 |
1-241675267-C-G |
c.555G>C |
p.Gln185His |
Missense |
4/10 |
- |
1 |
1-241675268-T-C |
c.554A>G |
p.Gln185Arg |
Missense |
4/10 |
- |
1 |
1-241675269-G-C |
c.553C>G |
p.Gln185Glu |
Missense |
4/10 |
- |
1 |
1-241675271-C-T |
c.551G>A |
p.Ser184Asn |
Missense |
4/10 |
- |
1 |
1-241675271-CT-GT |
c.551delinsC |
p.Ser184Thr |
Missense |
4/10 |
- |
1 |
1-241675272-T-A |
c.550A>T |
p.Ser184Cys |
Missense |
4/10 |
- |
1 |
1-241675275-TT-T |
c.550del |
p.Ser184Alafs*18 |
Frameshift |
4/10 |
- |
1 |
1-241675279-AAC-ATG |
c.541_542delinsCA |
p.Val181His |
Missense |
4/10 |
- |
2 |
1-241675281-C-T |
c.541G>A |
p.Val181Ile |
Missense |
4/10 |
- |
1 |
1-241675283-T-C |
c.539A>G |
p.His180Arg |
Missense |
4/10 |
- |
2 |
1-241675287-C-A |
c.535G>T |
p.Asp179Tyr |
Missense |
4/10 |
- |
1 |
1-241675289-TT-GC |
c.532_533delinsGC |
p.Asn178Ala |
Missense |
4/10 |
- |
1 |
1-241675292-G-A |
c.530C>T |
p.Pro177Leu |
Missense |
4/10 |
- |
3 |
1-241675295-TG-GC |
c.526_527delinsGC |
p.His176Ala |
Missense |
4/10 |
- |
1 |
1-241675297-CA-AC |
c.524_525delinsGT |
p.Val175Gly |
Missense |
4/10 |
- |
1 |
1-241675301-G-C |
c.521C>G |
p.Pro174Arg |
Missense |
4/10 |
- |
4 |
1-241675301-G-T |
c.521C>A |
p.Pro174His |
Missense |
4/10 |
- |
1 |
1-241675302-G-A |
c.520C>T |
p.Pro174Ser |
Missense |
4/10 |
- |
1 |
1-241675302-G-C |
c.520C>G |
p.Pro174Ala |
Missense |
4/10 |
- |
1 |
1-241675308-T-A |
c.514A>T |
p.Lys172* |
Nonsense |
4/10 |
- |
1 |
1-241675310-C-T |
c.512G>A |
p.Ser171Asn |
Missense |
4/10 |
- |
1 |
1-241675311-CTGC-C |
c.512_514del |
p.Ser171del |
InFrameDeletion |
4/10 |
- |
1 |
1-241675312-GCC-TGA |
c.508_510delinsTCA |
p.Gly170Ser |
Nonsense |
4/10 |
- |
1 |
1-241675319-T-TT |
c.504dup |
p.Leu169Thrfs*14 |
Frameshift |
4/10 |
- |
1 |
1-241675319-TT-T |
c.504del |
p.Glu168Aspfs*34 |
Frameshift |
4/10 |
- |
1 |
1-241675321-AC-AG |
c.500delinsC |
p.Gly167Ala |
Missense |
4/10 |
- |
1 |
1-241675325-C-T |
c.497G>A |
p.Gly166Glu |
Missense |
4/10 |
- |
1 |
1-241675326-C-A |
c.496G>T |
p.Gly166* |
Nonsense |
4/10 |
- |
1 |
1-241675341-C-A |
c.481G>T |
p.Ala161Ser |
Missense |
4/10 |
- |
4 |
1-241675342-TCT-CAT |
c.479_480delinsTG |
p.Arg160Met |
Missense |
4/10 |
- |
1 |
1-241675344-T-C |
c.478A>G |
p.Arg160Gly |
Missense |
4/10 |
- |
2 |
1-241675349-C-A |
c.473G>T |
p.Ser158Ile |
Missense |
4/10 |
- |
1 |
1-241675352-A-C |
c.470T>G |
p.Ile157Ser |
Missense |
4/10 |
- |
1 |
1-241675354-GA-AG |
c.467_468delinsCT |
p.Val156Ala |
Missense |
4/10 |
- |
1 |
1-241675355-AC-CG |
c.466_467delinsCG |
p.Val156Arg |
Missense |
4/10 |
- |
1 |
1-241675361-TT-TG |
c.460delinsC |
p.Asn154His |
Missense |
4/10 |
- |
1 |
1-241675365-AC-A |
c.457del |
p.Val153* |
Frameshift |
4/10 |
- |
1 |
1-241675367-T-C |
c.455A>G |
p.Asn152Ser |
Missense |
4/10 |
- |
2 |
1-241675370-CATATTTGTCTGAGTTCC-C |
c.437_453del |
p.Gly146Glufs*4 |
Frameshift |
4/10 |
- |
1 |
1-241675372-A-C |
c.450T>G |
p.Asn150Lys |
Missense |
4/10 |
- |
1 |
1-241675372-A-T |
c.450T>A |
p.Asn150Lys |
Missense |
4/10 |
- |
1 |
1-241675380-TG-T |
c.442del |
p.Gln148Argfs*4 |
Frameshift |
4/10 |
- |
1 |
1-241675388-G-C |
c.434C>G |
p.Ser145* |
Nonsense |
4/10 |
- |
1 |
1-241675395-T-C |
c.427A>G |
p.Thr143Ala |
Missense |
4/10 |
- |
2 |
1-241675397-T-C |
c.425A>G |
p.Gln142Arg |
Missense |
4/10 |
- |
2 |
1-241675397-T-TCA |
c.424_425insTG |
p.Gln142Leufs*11 |
Frameshift |
4/10 |
- |
1 |
1-241675398-G-T |
c.424C>A |
p.Gln142Lys |
Missense |
4/10 |
- |
1 |
1-241675404-C-T |
c.418G>A |
p.Val140Ile |
Missense |
4/10 |
- |
1 |
1-241675413-G-A |
c.409C>T |
p.Pro137Ser |
Missense |
4/10 |
- |
1 |
1-241675417-A-C |
c.405T>G |
p.His135Gln |
Missense |
4/10 |
- |
1 |
1-241675417-A-T |
c.405T>A |
p.His135Gln |
Missense |
4/10 |
- |
1 |
1-241675418-T-C |
c.404A>G |
p.His135Arg |
Missense |
4/10 |
- |
1 |
1-241675422-C-A |
c.400G>T |
p.Asp134Tyr |
Missense |
4/10 |
- |
1 |
1-241675431-T-G |
c.391A>C |
p.Lys131Gln |
Missense |
4/10 |
- |
1 |
1-241676908-C-CAGTC |
c.374_375insCTGA |
p.Glu126* |
Nonsense |
3/10 |
- |
1 |
1-241676914-C-T |
c.367G>A |
p.Ala123Thr |
Missense |
3/10 |
- |
1 |
1-241676923-T-C |
c.358A>G |
p.Ile120Val |
Missense |
3/10 |
- |
1 |
1-241676924-TT-T |
c.358del |
p.Ile120* |
Frameshift |
3/10 |
- |
1 |
1-241676929-T-G |
c.352A>C |
p.Asn118His |
Missense |
3/10 |
- |
1 |
1-241676931-GC-TG |
c.349_350delinsCA |
p.Ala117His |
Missense |
3/10 |
- |
1 |
1-241676932-C-G |
c.349G>C |
p.Ala117Pro |
Missense |
3/10 |
- |
1 |
1-241676932-C-T |
c.349G>A |
p.Ala117Thr |
Missense |
3/10 |
- |
1 |
1-241676935-T-A |
c.346A>T |
p.Ile116Phe |
Missense |
3/10 |
- |
1 |
1-241676937-T-G |
c.344A>C |
p.Lys115Thr |
Missense |
3/10 |
- |
1 |
1-241676942-A-AC |
c.338_339insG |
p.Asp113Glufs*6 |
Frameshift |
3/10 |
- |
1 |
1-241676952-T-A |
c.329A>T |
p.Tyr110Phe |
Missense |
3/10 |
- |
1 |
1-241676953-A-G |
c.328T>C |
p.Tyr110His |
Missense |
3/10 |
- |
1 |
1-241676959-TGGT-T |
c.321_323del |
p.Asn107_Gln108delinsLys |
MultiAAMissense |
3/10 |
- |
1 |
1-241676961-T-G |
c.320A>C |
p.Asn107Thr |
Missense |
3/10 |
- |
3 |
1-241676967-T-G |
c.314A>C |
p.Glu105Ala |
Missense |
3/10 |
- |
1 |
1-241676970-G-A |
c.311C>T |
p.Ala104Val |
Missense |
3/10 |
- |
1 |
1-241676971-C-T |
c.310G>A |
p.Ala104Thr |
Missense |
3/10 |
- |
1 |
1-241676976-G-C |
c.305C>G |
p.Ala102Gly |
Missense |
3/10 |
- |
1 |
1-241676977-C-G |
c.304G>C |
p.Ala102Pro |
Missense |
3/10 |
- |
1 |
1-241676979-C-G |
c.302G>C |
p.Arg101Pro |
Missense |
3/10 |
- |
1 |
1-241676979-C-T |
c.302G>A |
p.Arg101Gln |
Missense |
3/10 |
- |
2 |
1-241676980-G-A |
c.301C>T |
p.Arg101* |
Nonsense |
3/10 |
- |
2 |
1-241676983-TT-T |
c.299del |
p.Lys100Serfs*7 |
Frameshift |
3/10 |
- |
1 |
1-241676987-G-A |
c.294C>T |
p.Ile98Ile |
Synonymous |
3/10 |
- |
1 |
1-241676987-G-T |
c.294C>A |
p.Ile98Ile |
Synonymous |
3/10 |
- |
1 |
1-241676991-C-G |
c.290G>C |
p.Gly97Ala |
Missense |
3/10 |
- |
1 |
1-241676993-A-G |
c.288T>C |
p.Phe96Phe |
Synonymous |
3/10 |
- |
1 |
1-241676994-A-AC |
c.286_287insG |
p.Phe96Cysfs*10 |
Frameshift |
3/10 |
- |
1 |
1-241676994-A-G |
c.287T>C |
p.Phe96Ser |
Missense |
3/10 |
- |
1 |
1-241676997-GC-TG |
c.283_284delinsCA |
p.Ala95His |
Missense |
3/10 |
- |
1 |
1-241676998-C-G |
c.283G>C |
p.Ala95Pro |
Missense |
3/10 |
- |
1 |
1-241677011-G-A |
c.270C>T |
p.Thr90Thr |
Synonymous |
3/10 |
- |
1 |
1-241677011-G-C |
c.270C>G |
p.Thr90Thr |
Synonymous |
3/10 |
- |
1 |
1-241677011-G-T |
c.270C>A |
p.Thr90Thr |
Synonymous |
3/10 |
- |
1 |
1-241678668-C-A |
c.268-1655G>T |
- |
IntronicSNV |
- |
2/9 |
3 |
1-241678668-C-T |
c.268-1655G>A |
- |
IntronicSNV |
- |
2/9 |
3 |
1-241679889-G-A |
c.267+593C>T |
- |
IntronicSNV |
- |
2/9 |
1 |
1-241680483-TGGCATGCGTTCTGTCACACCT-T |
c.248_267+1del |
- |
SpliceDonorDeletion |
2/10 |
- |
1 |
1-241680484-G-GG |
c.266dup |
p.Thr90Asnfs*5 |
Frameshift |
2/10 |
- |
1 |
1-241680497-TCACACCTCCAATCT-T |
c.240_253del |
p.Lys80Asnfs*10 |
Frameshift |
2/10 |
- |
1 |
1-241680500-AC-AG |
c.248delinsC |
p.Gly83Ala |
Missense |
2/10 |
- |
1 |
1-241680500-ACC-CAA |
c.247_249delinsTTG |
p.Gly83Leu |
Missense |
2/10 |
- |
1 |
1-241680503-TCC-AGC |
c.245_246delinsCT |
p.Gly82Ala |
Missense |
2/10 |
- |
1 |
1-241680505-CC-C |
c.245del |
p.Gly82Glufs*3 |
Frameshift |
2/10 |
- |
1 |
1-241680511-T-TT |
c.239dup |
p.Ile81Aspfs*14 |
Frameshift |
2/10 |
- |
1 |
1-241680512-A-G |
c.237T>C |
p.Phe79Phe |
Synonymous |
2/10 |
- |
1 |
1-241680515-G-T |
c.234C>A |
p.Asn78Lys |
Missense |
2/10 |
- |
1 |
1-241680517-T-C |
c.232A>G |
p.Asn78Asp |
Missense |
2/10 |
- |
1 |
1-241680517-TT-T |
c.233del |
p.Asn78Thrfs*7 |
Frameshift |
2/10 |
- |
1 |
1-241680521-CGT-TAT |
c.227_228delinsTA |
p.Thr76Ile |
Missense |
2/10 |
- |
1 |
1-241680525-GA-CA |
c.224delinsG |
p.Ser75Cys |
Missense |
2/10 |
- |
1 |
1-241680526-A-C |
c.223T>G |
p.Ser75Ala |
Missense |
2/10 |
- |
1 |
1-241680534-G-T |
c.215C>A |
p.Thr72Asn |
Missense |
2/10 |
- |
1 |
1-241680540-G-A |
c.209C>T |
p.Ala70Val |
Missense |
2/10 |
- |
1 |
1-241680541-C-T |
c.208G>A |
p.Ala70Thr |
Missense |
2/10 |
- |
1 |
1-241680543-C-A |
c.206G>T |
p.Gly69Val |
Missense |
2/10 |
- |
1 |
1-241680546-T-A |
c.203A>T |
p.Tyr68Phe |
Missense |
2/10 |
- |
1 |
1-241680554-A-AA |
c.195dup |
p.Lys66* |
Nonsense |
2/10 |
- |
1 |
1-241680556-C-T |
c.193G>A |
p.Asp65Asn |
Missense |
2/10 |
- |
2 |
1-241680557-CA-C |
c.192del |
p.Asn64Lysfs*10 |
Frameshift |
2/10 |
- |
2 |
1-241680558-T-C |
c.191A>G |
p.Asn64Ser |
Missense |
2/10 |
- |
1 |
1-241680558-T-G |
c.191A>C |
p.Asn64Thr |
Missense |
2/10 |
- |
6 |
1-241680563-CAC-ATC |
c.185_186delinsAT |
p.Val62Asp |
Missense |
2/10 |
- |
15 |
1-241680565-C-T |
c.184G>A |
p.Val62Met |
Missense |
2/10 |
- |
8 |
1-241680575-ACC-AAG |
c.172_173delinsCT |
p.Gly58Leu |
Missense |
2/10 |
- |
1 |
1-241680576-C-G |
c.173G>C |
p.Gly58Ala |
Missense |
2/10 |
- |
1 |
1-241680582-G-T |
c.167C>A |
p.Thr56Asn |
Missense |
2/10 |
- |
1 |
1-241680587-CATATTCTATCC-C |
c.153_163del |
p.Ile52Tyrfs*4 |
Frameshift |
2/10 |
- |
1 |
1-241680592-C-A |
c.157G>T |
p.Glu53* |
Nonsense |
2/10 |
- |
1 |
1-241680595-T-C |
c.154A>G |
p.Ile52Val |
Missense |
2/10 |
- |
1 |
1-241680598-G-A |
c.151C>T |
p.Arg51Trp |
Missense |
2/10 |
- |
1 |
1-241680605-AA-A |
c.145del |
p.Ser49Profs*4 |
Frameshift |
2/10 |
- |
1 |
1-241680610-G-A |
c.139C>T |
p.Gln47* |
Nonsense |
2/10 |
- |
1 |
1-241680612-C-T |
c.137G>A |
p.Ser46Asn |
Missense |
2/10 |
- |
1 |
1-241680614-T-A |
c.135A>T |
p.Ala45Ala |
Synonymous |
2/10 |
- |
1 |
1-241680614-T-C |
c.135A>G |
p.Ala45Ala |
Synonymous |
2/10 |
- |
1 |
1-241680614-T-G |
c.135A>C |
p.Ala45Ala |
Synonymous |
2/10 |
- |
1 |
1-241680614-TG-AC |
c.134_135delinsGT |
p.Ala45Gly |
Missense |
2/10 |
- |
2 |
1-241680614-TGC-TTT |
c.133_134delinsAA |
p.Ala45Lys |
Missense |
2/10 |
- |
1 |
1-241682898-G-T |
c.125C>A |
p.Ala42Asp |
Missense |
1/10 |
- |
2 |
1-241682900-CCGCGTTCG-C |
c.116_123del |
p.Pro39Argfs*14 |
Frameshift |
1/10 |
- |
1 |
1-241682900-CGC-TGT |
c.121_123delinsACA |
p.Ala41Thr |
Missense |
1/10 |
- |
1 |
1-241682905-T-C |
c.118A>G |
p.Asn40Asp |
Missense |
1/10 |
- |
1 |
1-241682909-AGG-AAG |
c.113delinsT |
p.Pro38Leu |
Missense |
1/10 |
- |
1 |
1-241682911-G-A |
c.112C>T |
p.Pro38Ser |
Missense |
1/10 |
- |
1 |
1-241682911-G-GT |
c.111_112insA |
p.Pro38Thrfs*18 |
Frameshift |
1/10 |
- |
2 |
1-241682915-AAA-ATG |
c.106_107delinsCA |
p.Phe36His |
Missense |
1/10 |
- |
1 |
1-241682916-AAACGAGGGCA-A |
c.99_108del |
p.Pro34Glyfs*16 |
Frameshift |
1/10 |
- |
1 |
1-241682916-AA-GA |
c.107delinsC |
p.Phe36Ser |
Missense |
1/10 |
- |
1 |
1-241682916-A-C |
c.107T>G |
p.Phe36Cys |
Missense |
1/10 |
- |
1 |
1-241682915-A-C |
c.108T>G |
p.Phe36Leu |
Missense |
1/10 |
- |
1 |
1-241682915-A-T |
c.108T>A |
p.Phe36Leu |
Missense |
1/10 |
- |
1 |
1-241682917-A-C |
c.106T>G |
p.Phe36Val |
Missense |
1/10 |
- |
1 |
1-241682917-A-G |
c.106T>C |
p.Phe36Leu |
Missense |
1/10 |
- |
1 |
1-241682921-G-T |
c.102C>A |
p.Pro34Pro |
Synonymous |
1/10 |
- |
1 |
1-241682922-GGGCACGGCCG-G |
c.93_102del |
p.Ala32Argfs*18 |
Frameshift |
1/10 |
- |
1 |
1-241682923-G-A |
c.100C>T |
p.Pro34Ser |
Missense |
1/10 |
- |
1 |
1-241682932-C-G |
c.91G>C |
p.Ala31Pro |
Missense |
1/10 |
- |
1 |
1-241682935-C-G |
c.88G>C |
p.Gly30Arg |
Missense |
1/10 |
- |
2 |
1-241682936-ACC-TGA |
c.85_87delinsTCA |
p.Gly29Ser |
Nonsense |
1/10 |
- |
1 |
1-241682936-CACCCAAGCC-C |
c.82_90del |
p.Leu28_Gly30del |
InFrameDeletion |
1/10 |
- |
1 |
1-241682937-C-G |
c.86G>C |
p.Gly29Ala |
Missense |
1/10 |
- |
1 |
1-241682940-AA-CC |
c.82_83delinsGG |
p.Leu28Gly |
Missense |
1/10 |
- |
2 |
1-241682946-G-A |
c.77C>T |
p.Pro26Leu |
Missense |
1/10 |
- |
2 |
1-241682947-G-A |
c.76C>T |
p.Pro26Ser |
Missense |
1/10 |
- |
1 |
1-241682948-A-C |
c.75T>G |
p.Ala25Ala |
Synonymous |
1/10 |
- |
1 |
1-241682948-A-G |
c.75T>C |
p.Ala25Ala |
Synonymous |
1/10 |
- |
1 |
1-241682948-A-T |
c.75T>A |
p.Ala25Ala |
Synonymous |
1/10 |
- |
1 |
1-241682950-C-T |
c.73G>A |
p.Ala25Thr |
Missense |
1/10 |
- |
1 |
1-241682952-G-A |
c.71C>T |
p.Ser24Leu |
Missense |
1/10 |
- |
1 |
1-241682955-GC-TG |
c.67_68delinsCA |
p.Ala23His |
Missense |
1/10 |
- |
1 |
1-241682955-G-GT |
c.67_68insA |
p.Ala23Aspfs*33 |
Frameshift |
1/10 |
- |
1 |
1-241682960-GGC-TAA |
c.61_63delinsTTA |
p.Ala21Leu |
Nonsense |
1/10 |
- |
1 |
1-241682961-G-C |
c.62C>G |
p.Ala21Gly |
Missense |
1/10 |
- |
1 |
1-241682963-T-A |
c.60A>T |
p.Ala20Ala |
Synonymous |
1/10 |
- |
1 |
1-241682963-T-C |
c.60A>G |
p.Ala20Ala |
Synonymous |
1/10 |
- |
1 |
1-241682963-T-G |
c.60A>C |
p.Ala20Ala |
Synonymous |
1/10 |
- |
1 |
1-241682963-TGC-TTT |
c.58_59delinsAA |
p.Ala20Lys |
Missense |
1/10 |
- |
1 |
1-241682964-GC-AG |
c.58_59delinsCT |
p.Ala20Leu |
Missense |
1/10 |
- |
1 |
1-241682965-C-T |
c.58G>A |
p.Ala20Thr |
Missense |
1/10 |
- |
2 |
1-241682968-C-A |
c.55G>T |
p.Ala19Ser |
Missense |
1/10 |
- |
1 |
1-241682970-G-A |
c.53C>T |
p.Pro18Leu |
Missense |
1/10 |
- |
2 |
1-241682970-GG-GA |
c.52delinsT |
p.Pro18Ser |
Missense |
1/10 |
- |
1 |
1-241682973-GC-TT |
c.49_50delinsAA |
p.Ala17Asn |
Missense |
1/10 |
- |
1 |
1-241682984-GGG-AAG |
c.38_39delinsTT |
p.Pro13Leu |
Missense |
1/10 |
- |
8 |
1-241682990-CGA-GAC |
c.31_33delinsGTC |
p.Ser11Val |
Missense |
1/10 |
- |
1 |
1-241682990-CG-GT |
c.32_33delinsAC |
p.Ser11Tyr |
Missense |
1/10 |
- |
1 |
1-241682991-G-T |
c.32C>A |
p.Ser11* |
Nonsense |
1/10 |
- |
1 |
1-241682992-A-C |
c.31T>G |
p.Ser11Ala |
Missense |
1/10 |
- |
5 |
1-241682993-GCG-AAG |
c.29_30delinsTT |
p.Arg10Leu |
Missense |
1/10 |
- |
1 |
1-241682994-C-A |
c.29G>T |
p.Arg10Leu |
Missense |
1/10 |
- |
1 |
1-241682994-CG-TT |
c.28_29delinsAA |
p.Arg10Asn |
Missense |
1/10 |
- |
2 |
1-241682997-G-A |
c.26C>T |
p.Ala9Val |
Missense |
1/10 |
- |
1 |
1-241683013-C-T |
c.10G>A |
p.Ala4Thr |
Missense |
1/10 |
- |
1 |
1-241683014-TCG-TGT |
c.7_8delinsAC |
p.Arg3Thr |
Missense |
1/10 |
- |
1 |
1-241683016-G-A |
c.7C>T |
p.Arg3* |
Nonsense |
1/10 |
- |
1 |
1-241683016-G-C |
c.7C>G |
p.Arg3Gly |
Missense |
1/10 |
- |
1 |
1-241683020-C-A |
c.3G>T |
p.Met1? |
Missense |
1/10 |
- |
1 |
1-241683022-T-C |
c.1A>G |
p.Met1? |
Missense |
1/10 |
- |
1 |