Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49472378G>A | CA469600820 | ERCC6 | c.2922C>T (p.His974=) n.4325C>T c.2763C>T (p.His921=) c.*1218C>T (n.*1218C>T) c.1032C>T (p.His344=) c.754C>T n.690-325G>A | |
10 | g.49472378G>C | CA376718339 | ERCC6 | c.2922C>G (p.His974Gln) n.4325C>G c.2763C>G (p.His921Gln) c.*1218C>G (n.*1218C>G) c.1032C>G (p.His344Gln) c.754C>G n.690-325G>C | |
10 | g.49472378G>T | CA376718341 | ERCC6 | c.2922C>A (p.His974Gln) n.4325C>A c.2763C>A (p.His921Gln) c.*1218C>A (n.*1218C>A) c.1032C>A (p.His344Gln) c.754C>A n.690-325G>T | |
10 | g.49472379T>A | CA376718343 | ERCC6 | c.2921A>T (p.His974Leu) n.4324A>T c.2762A>T (p.His921Leu) c.*1217A>T (n.*1217A>T) c.1031A>T (p.His344Leu) c.753A>T n.690-324T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472379T>C | CA206586096 | ERCC6 | c.2921A>G (p.His974Arg) n.4324A>G c.2762A>G (p.His921Arg) c.*1217A>G (n.*1217A>G) c.1031A>G (p.His344Arg) c.753A>G n.690-324T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49472379T>G | CA376718345 | ERCC6 | c.2921A>C (p.His974Pro) n.4324A>C c.2762A>C (p.His921Pro) c.*1217A>C (n.*1217A>C) c.1031A>C (p.His344Pro) c.753A>C n.690-324T>G | |
10 | g.49472379T= | CA1908750276 | ERCC6 | c.2921A= (p.His974=) n.4324A= c.2762A= (p.His921=) c.*1217A= (n.*1217A=) c.1031A= (p.His344=) c.753A= n.690-324T= | |
10 | g.49472380G>A | CA376718347 | ERCC6 | c.2920C>T (p.His974Tyr) n.4323C>T c.2761C>T (p.His921Tyr) c.*1216C>T (n.*1216C>T) c.1030C>T (p.His344Tyr) c.752C>T n.690-323G>A | gnomAD v4 |
10 | g.49472380G>C | CA376718349 | ERCC6 | c.2920C>G (p.His974Asp) n.4323C>G c.2761C>G (p.His921Asp) c.*1216C>G (n.*1216C>G) c.1030C>G (p.His344Asp) c.752C>G n.690-323G>C | gnomAD v4 |
10 | g.49472380G>T | CA376718351 | ERCC6 | c.2920C>A (p.His974Asn) n.4323C>A c.2761C>A (p.His921Asn) c.*1216C>A (n.*1216C>A) c.1030C>A (p.His344Asn) c.752C>A n.690-323G>T | |
10 | g.49472381G>A | CA5495485 | ERCC6 | c.2919C>T (p.Tyr973=) n.4322C>T c.2760C>T (p.Tyr920=) c.*1215C>T (n.*1215C>T) c.1029C>T (p.Tyr343=) c.751C>T n.690-322G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49472381G>C | CA376718353 | ERCC6 | c.2919C>G (p.Tyr973Ter) n.4322C>G c.2760C>G (p.Tyr920Ter) c.*1215C>G (n.*1215C>G) c.1029C>G (p.Tyr343Ter) c.751C>G n.690-322G>C | |
10 | g.49472381G= | CA1908750277 | ERCC6 | c.2919C= (p.Tyr973=) n.4322C= c.2760C= (p.Tyr920=) c.*1215C= (n.*1215C=) c.1029C= (p.Tyr343=) c.751C= n.690-322G= | |
10 | g.49472381G>T | CA376718355 | ERCC6 | c.2919C>A (p.Tyr973Ter) n.4322C>A c.2760C>A (p.Tyr920Ter) c.*1215C>A (n.*1215C>A) c.1029C>A (p.Tyr343Ter) c.751C>A n.690-322G>T | |
10 | g.49472382T>A | CA376718357 | ERCC6 | c.2918A>T (p.Tyr973Phe) n.4321A>T c.2759A>T (p.Tyr920Phe) c.*1214A>T (n.*1214A>T) c.1028A>T (p.Tyr343Phe) c.750A>T n.690-321T>A | |
10 | g.49472382T>C | CA376718359 | ERCC6 | c.2918A>G (p.Tyr973Cys) n.4321A>G c.2759A>G (p.Tyr920Cys) c.*1214A>G (n.*1214A>G) c.1028A>G (p.Tyr343Cys) c.750A>G n.690-321T>C | |
10 | g.49472382T>G | CA376718360 | ERCC6 | c.2918A>C (p.Tyr973Ser) n.4321A>C c.2759A>C (p.Tyr920Ser) c.*1214A>C (n.*1214A>C) c.1028A>C (p.Tyr343Ser) c.750A>C n.690-321T>G | dbSNP |
10 | g.49472382T= | CA1908750278 | ERCC6 | c.2918A= (p.Tyr973=) n.4321A= c.2759A= (p.Tyr920=) c.*1214A= (n.*1214A=) c.1028A= (p.Tyr343=) c.750A= n.690-321T= | |
10 | g.49472383A>C | CA376718363 | ERCC6 | c.2917T>G (p.Tyr973Asp) n.4320T>G c.2758T>G (p.Tyr920Asp) c.*1213T>G (n.*1213T>G) c.1027T>G (p.Tyr343Asp) c.749T>G n.690-320A>C | gnomAD v4 |
10 | g.49472383A>G | CA376718365 | ERCC6 | c.2917T>C (p.Tyr973His) n.4320T>C c.2758T>C (p.Tyr920His) c.*1213T>C (n.*1213T>C) c.1027T>C (p.Tyr343His) c.749T>C n.690-320A>G | |
10 | g.49472383A>T | CA376718366 | ERCC6 | c.2917T>A (p.Tyr973Asn) n.4320T>A c.2758T>A (p.Tyr920Asn) c.*1213T>A (n.*1213T>A) c.1027T>A (p.Tyr343Asn) c.749T>A n.690-320A>T | |
10 | g.49472384del | CA2580081573 | ERCC6 | c.2916del (p.Tyr973ThrfsTer10) n.4319del c.2757del (p.Tyr920ThrfsTer10) c.*1212del (n.*1212del) c.1026del (p.Tyr343ThrfsTer10) c.748del n.690-319del | ClinVar |
10 | g.49472384G>A | CA469600821 | ERCC6 | c.2916C>T (p.Ile972=) n.4319C>T c.2757C>T (p.Ile919=) c.*1212C>T (n.*1212C>T) c.1026C>T (p.Ile342=) c.748C>T n.690-319G>A | |
10 | g.49472384G>C | CA376718369 | ERCC6 | c.2916C>G (p.Ile972Met) n.4319C>G c.2757C>G (p.Ile919Met) c.*1212C>G (n.*1212C>G) c.1026C>G (p.Ile342Met) c.748C>G n.690-319G>C | |
10 | g.49472384G= | CA1908750279 | ERCC6 | c.2916C= (p.Ile972=) n.4319C= c.2757C= (p.Ile919=) c.*1212C= (n.*1212C=) c.1026C= (p.Ile342=) c.748C= n.690-319G= | |
10 | g.49472384G>T | CA5495486 | ERCC6 | c.2916C>A (p.Ile972=) n.4319C>A c.2757C>A (p.Ile919=) c.*1212C>A (n.*1212C>A) c.1026C>A (p.Ile342=) c.748C>A n.690-319G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49472385A= | CA1908750280 | ERCC6 | c.2915T= (p.Ile972=) n.4318T= c.2756T= (p.Ile919=) c.*1211T= (n.*1211T=) c.1025T= (p.Ile342=) c.747T= n.690-318A= | |
10 | g.49472385A>C | CA376718371 | ERCC6 | c.2915T>G (p.Ile972Ser) n.4318T>G c.2756T>G (p.Ile919Ser) c.*1211T>G (n.*1211T>G) c.1025T>G (p.Ile342Ser) c.747T>G n.690-318A>C | |
10 | g.49472385A>G | CA5495487 | ERCC6 | c.2915T>C (p.Ile972Thr) n.4318T>C c.2756T>C (p.Ile919Thr) c.*1211T>C (n.*1211T>C) c.1025T>C (p.Ile342Thr) c.747T>C n.690-318A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472385A>T | CA376718374 | ERCC6 | c.2915T>A (p.Ile972Asn) n.4318T>A c.2756T>A (p.Ile919Asn) c.*1211T>A (n.*1211T>A) c.1025T>A (p.Ile342Asn) c.747T>A n.690-318A>T | |
10 | g.49472385_49472389delinsTGCACACCA | CA2843744790 | ERCC6 | c.2911_2915delinsTGGTGTGCA (p.Lys971TrpfsTer16) n.4314_4318delinsTGGTGTGCA c.2752_2756delinsTGGTGTGCA (p.Lys918TrpfsTer16) c.*1207_*1211delinsTGGTGTGCA (n.*1207_*1211delinsTGGTGTGCA) c.1021_1025delinsTGGTGTGCA (p.Lys341TrpfsTer16) c.743_747delinsTGGTGTGCA n.690-318_690-314delinsTGCACACCA | |
10 | g.49472386T>A | CA376718375 | ERCC6 | c.2914A>T (p.Ile972Phe) n.4317A>T c.2755A>T (p.Ile919Phe) c.*1210A>T (n.*1210A>T) c.1024A>T (p.Ile342Phe) c.746A>T n.690-317T>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49472386T>C | CA376718376 | ERCC6 | c.2914A>G (p.Ile972Val) n.4317A>G c.2755A>G (p.Ile919Val) c.*1210A>G (n.*1210A>G) c.1024A>G (p.Ile342Val) c.746A>G n.690-317T>C | ClinVar dbSNP gnomAD v4 |
10 | g.49472386T>G | CA376718378 | ERCC6 | c.2914A>C (p.Ile972Leu) n.4317A>C c.2755A>C (p.Ile919Leu) c.*1210A>C (n.*1210A>C) c.1024A>C (p.Ile342Leu) c.746A>C n.690-317T>G | |
10 | g.49472386T= | CA1908750281 | ERCC6 | c.2914A= (p.Ile972=) n.4317A= c.2755A= (p.Ile919=) c.*1210A= (n.*1210A=) c.1024A= (p.Ile342=) c.746A= n.690-317T= | |
10 | g.49472387C>A | CA376718380 | ERCC6 | c.2913G>T (p.Lys971Asn) n.4316G>T c.2754G>T (p.Lys918Asn) c.*1209G>T (n.*1209G>T) c.1023G>T (p.Lys341Asn) c.745G>T n.690-316C>A | |
10 | g.49472387C= | CA1908750282 | ERCC6 | c.2913G= (p.Lys971=) n.4316G= c.2754G= (p.Lys918=) c.*1209G= (n.*1209G=) c.1023G= (p.Lys341=) c.745G= n.690-316C= | |
10 | g.49472387C>G | CA206586116 | ERCC6 | c.2913G>C (p.Lys971Asn) n.4316G>C c.2754G>C (p.Lys918Asn) c.*1209G>C (n.*1209G>C) c.1023G>C (p.Lys341Asn) c.745G>C n.690-316C>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49472387C>T | CA469600822 | ERCC6 | c.2913G>A (p.Lys971=) n.4316G>A c.2754G>A (p.Lys918=) c.*1209G>A (n.*1209G>A) c.1023G>A (p.Lys341=) c.745G>A n.690-316C>T | |
10 | g.49472388T>A | CA376718382 | ERCC6 | c.2912A>T (p.Lys971Met) n.4315A>T c.2753A>T (p.Lys918Met) c.*1208A>T (n.*1208A>T) c.1022A>T (p.Lys341Met) c.744A>T n.690-315T>A | |
10 | g.49472388T>C | CA376718384 | ERCC6 | c.2912A>G (p.Lys971Arg) n.4315A>G c.2753A>G (p.Lys918Arg) c.*1208A>G (n.*1208A>G) c.1022A>G (p.Lys341Arg) c.744A>G n.690-315T>C | |
10 | g.49472388T>G | CA376718386 | ERCC6 | c.2912A>C (p.Lys971Thr) n.4315A>C c.2753A>C (p.Lys918Thr) c.*1208A>C (n.*1208A>C) c.1022A>C (p.Lys341Thr) c.744A>C n.690-315T>G | |
10 | g.49472389T>A | CA376718390 | ERCC6 | c.2911A>T (p.Lys971Ter) n.4314A>T c.2752A>T (p.Lys918Ter) c.*1207A>T (n.*1207A>T) c.1021A>T (p.Lys341Ter) c.743A>T n.690-314T>A | |
10 | g.49472389T>C | CA376718391 | ERCC6 | c.2911A>G (p.Lys971Glu) n.4314A>G c.2752A>G (p.Lys918Glu) c.*1207A>G (n.*1207A>G) c.1021A>G (p.Lys341Glu) c.743A>G n.690-314T>C | gnomAD v4 |
10 | g.49472389T>G | CA376718388 | ERCC6 | c.2911A>C (p.Lys971Gln) n.4314A>C c.2752A>C (p.Lys918Gln) c.*1207A>C (n.*1207A>C) c.1021A>C (p.Lys341Gln) c.743A>C n.690-314T>G | |
10 | g.49472390T>A | CA376718392 | ERCC6 | c.2910A>T (p.Glu970Asp) n.4313A>T c.2751A>T (p.Glu917Asp) c.*1206A>T (n.*1206A>T) c.1020A>T (p.Glu340Asp) c.742A>T n.690-313T>A | |
10 | g.49472390T>C | CA469600823 | ERCC6 | c.2910A>G (p.Glu970=) n.4313A>G c.2751A>G (p.Glu917=) c.*1206A>G (n.*1206A>G) c.1020A>G (p.Glu340=) c.742A>G n.690-313T>C | |
10 | g.49472390T>G | CA376718393 | ERCC6 | c.2910A>C (p.Glu970Asp) n.4313A>C c.2751A>C (p.Glu917Asp) c.*1206A>C (n.*1206A>C) c.1020A>C (p.Glu340Asp) c.742A>C n.690-313T>G | |
10 | g.49472391T>A | CA376718395 | ERCC6 | c.2909A>T (p.Glu970Val) n.4312A>T c.2750A>T (p.Glu917Val) c.*1205A>T (n.*1205A>T) c.1019A>T (p.Glu340Val) c.741A>T n.690-312T>A | |
10 | g.49472391T>C | CA376718397 | ERCC6 | c.2909A>G (p.Glu970Gly) n.4312A>G c.2750A>G (p.Glu917Gly) c.*1205A>G (n.*1205A>G) c.1019A>G (p.Glu340Gly) c.741A>G n.690-312T>C | |
10 | g.49472391T>G | CA376718399 | ERCC6 | c.2909A>C (p.Glu970Ala) n.4312A>C c.2750A>C (p.Glu917Ala) c.*1205A>C (n.*1205A>C) c.1019A>C (p.Glu340Ala) c.741A>C n.690-312T>G | |
10 | g.49472392C>A | CA376718401 | ERCC6 | c.2908G>T (p.Glu970Ter) n.4311G>T c.2749G>T (p.Glu917Ter) c.*1204G>T (n.*1204G>T) c.1018G>T (p.Glu340Ter) c.740G>T n.690-311C>A | |
10 | g.49472392C>G | CA376718402 | ERCC6 | c.2908G>C (p.Glu970Gln) n.4311G>C c.2749G>C (p.Glu917Gln) c.*1204G>C (n.*1204G>C) c.1018G>C (p.Glu340Gln) c.740G>C n.690-311C>G | |
10 | g.49472392C>T | CA376718404 | ERCC6 | c.2908G>A (p.Glu970Lys) n.4311G>A c.2749G>A (p.Glu917Lys) c.*1204G>A (n.*1204G>A) c.1018G>A (p.Glu340Lys) c.740G>A n.690-311C>T | |
10 | g.49472392dup | CA2843129368 | ERCC6 | c.2908dup (p.Glu970GlyfsTer16) n.4311dup c.2749dup (p.Glu917GlyfsTer16) c.*1204dup (n.*1204dup) c.1018dup (p.Glu340GlyfsTer16) c.740dup n.690-311dup | |
10 | g.49472393T>A | CA376718406 | ERCC6 | c.2907A>T (p.Glu969Asp) n.4310A>T c.2748A>T (p.Glu916Asp) c.*1203A>T (n.*1203A>T) c.1017A>T (p.Glu339Asp) c.739A>T n.690-310T>A | |
10 | g.49472393T>C | CA469600824 | ERCC6 | c.2907A>G (p.Glu969=) n.4310A>G c.2748A>G (p.Glu916=) c.*1203A>G (n.*1203A>G) c.1017A>G (p.Glu339=) c.739A>G n.690-310T>C | gnomAD v4 |
10 | g.49472393T>G | CA5495488 | ERCC6 | c.2907A>C (p.Glu969Asp) n.4310A>C c.2748A>C (p.Glu916Asp) c.*1203A>C (n.*1203A>C) c.1017A>C (p.Glu339Asp) c.739A>C n.690-310T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49472393T= | CA1908750283 | ERCC6 | c.2907A= (p.Glu969=) n.4310A= c.2748A= (p.Glu916=) c.*1203A= (n.*1203A=) c.1017A= (p.Glu339=) c.739A= n.690-310T= | |
10 | g.49472394T>A | CA376718409 | ERCC6 | c.2906A>T (p.Glu969Val) n.4309A>T c.2747A>T (p.Glu916Val) c.*1202A>T (n.*1202A>T) c.1016A>T (p.Glu339Val) c.738A>T n.690-309T>A | |
10 | g.49472394T>C | CA5495489 | ERCC6 | c.2906A>G (p.Glu969Gly) n.4309A>G c.2747A>G (p.Glu916Gly) c.*1202A>G (n.*1202A>G) c.1016A>G (p.Glu339Gly) c.738A>G n.690-309T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49472394T>G | CA376718411 | ERCC6 | c.2906A>C (p.Glu969Ala) n.4309A>C c.2747A>C (p.Glu916Ala) c.*1202A>C (n.*1202A>C) c.1016A>C (p.Glu339Ala) c.738A>C n.690-309T>G | |
10 | g.49472394T= | CA1908750284 | ERCC6 | c.2906A= (p.Glu969=) n.4309A= c.2747A= (p.Glu916=) c.*1202A= (n.*1202A=) c.1016A= (p.Glu339=) c.738A= n.690-309T= | |
10 | g.49472395C>A | CA376718417 | ERCC6 | c.2905G>T (p.Glu969Ter) n.4308G>T c.2746G>T (p.Glu916Ter) c.*1201G>T (n.*1201G>T) c.1015G>T (p.Glu339Ter) c.737G>T n.690-308C>A | |
10 | g.49472395C= | CA1908750285 | ERCC6 | c.2905G= (p.Glu969=) n.4308G= c.2746G= (p.Glu916=) c.*1201G= (n.*1201G=) c.1015G= (p.Glu339=) c.737G= n.690-308C= | |
10 | g.49472395C>G | CA376718415 | ERCC6 | c.2905G>C (p.Glu969Gln) n.4308G>C c.2746G>C (p.Glu916Gln) c.*1201G>C (n.*1201G>C) c.1015G>C (p.Glu339Gln) c.737G>C n.690-308C>G | |
10 | g.49472395C>T | CA10628651 | ERCC6 | c.2905G>A (p.Glu969Lys) n.4308G>A c.2746G>A (p.Glu916Lys) c.*1201G>A (n.*1201G>A) c.1015G>A (p.Glu339Lys) c.737G>A n.690-308C>T | ClinVar dbSNP |
10 | g.49472396A>C | CA376718419 | ERCC6 | c.2904T>G (p.Ile968Met) n.4307T>G c.2745T>G (p.Ile915Met) c.*1200T>G (n.*1200T>G) c.1014T>G (p.Ile338Met) c.736T>G n.690-307A>C | |
10 | g.49472396A>G | CA469600826 | ERCC6 | c.2904T>C (p.Ile968=) n.4307T>C c.2745T>C (p.Ile915=) c.*1200T>C (n.*1200T>C) c.1014T>C (p.Ile338=) c.736T>C n.690-307A>G | gnomAD v4 |
10 | g.49472396A>T | CA469600825 | ERCC6 | c.2904T>A (p.Ile968=) n.4307T>A c.2745T>A (p.Ile915=) c.*1200T>A (n.*1200T>A) c.1014T>A (p.Ile338=) c.736T>A n.690-307A>T | |
10 | g.49472397A>C | CA376718421 | ERCC6 | c.2903T>G (p.Ile968Ser) n.4306T>G c.2744T>G (p.Ile915Ser) c.*1199T>G (n.*1199T>G) c.1013T>G (p.Ile338Ser) c.735T>G n.690-306A>C | |
10 | g.49472397A>G | CA376718422 | ERCC6 | c.2903T>C (p.Ile968Thr) n.4306T>C c.2744T>C (p.Ile915Thr) c.*1199T>C (n.*1199T>C) c.1013T>C (p.Ile338Thr) c.735T>C n.690-306A>G | |
10 | g.49472397A>T | CA376718424 | ERCC6 | c.2903T>A (p.Ile968Asn) n.4306T>A c.2744T>A (p.Ile915Asn) c.*1199T>A (n.*1199T>A) c.1013T>A (p.Ile338Asn) c.735T>A n.690-306A>T | |
10 | g.49472398T>A | CA376718426 | ERCC6 | c.2902A>T (p.Ile968Phe) n.4305A>T c.2743A>T (p.Ile915Phe) c.*1198A>T (n.*1198A>T) c.1012A>T (p.Ile338Phe) c.734A>T n.690-305T>A | |
10 | g.49472398T>C | CA5495490 | ERCC6 | c.2902A>G (p.Ile968Val) n.4305A>G c.2743A>G (p.Ile915Val) c.*1198A>G (n.*1198A>G) c.1012A>G (p.Ile338Val) c.734A>G n.690-305T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472398T>G | CA376718428 | ERCC6 | c.2902A>C (p.Ile968Leu) n.4305A>C c.2743A>C (p.Ile915Leu) c.*1198A>C (n.*1198A>C) c.1012A>C (p.Ile338Leu) c.734A>C n.690-305T>G | |
10 | g.49472398T= | CA1908750286 | ERCC6 | c.2902A= (p.Ile968=) n.4305A= c.2743A= (p.Ile915=) c.*1198A= (n.*1198A=) c.1012A= (p.Ile338=) c.734A= n.690-305T= | |
10 | g.49472399G>A | CA469600827 | ERCC6 | c.2901C>T (p.Thr967=) n.4304C>T c.2742C>T (p.Thr914=) c.*1197C>T (n.*1197C>T) c.1011C>T (p.Thr337=) c.733C>T n.690-304G>A | |
10 | g.49472399G>C | CA469600828 | ERCC6 | c.2901C>G (p.Thr967=) n.4304C>G c.2742C>G (p.Thr914=) c.*1197C>G (n.*1197C>G) c.1011C>G (p.Thr337=) c.733C>G n.690-304G>C | |
10 | g.49472399G>T | CA469600829 | ERCC6 | c.2901C>A (p.Thr967=) n.4304C>A c.2742C>A (p.Thr914=) c.*1197C>A (n.*1197C>A) c.1011C>A (p.Thr337=) c.733C>A n.690-304G>T | |
10 | g.49472400G>A | CA376718431 | ERCC6 | c.2900C>T (p.Thr967Ile) n.4303C>T c.2741C>T (p.Thr914Ile) c.*1196C>T (n.*1196C>T) c.1010C>T (p.Thr337Ile) c.732C>T n.690-303G>A | |
10 | g.49472400G>C | CA376718432 | ERCC6 | c.2900C>G (p.Thr967Ser) n.4303C>G c.2741C>G (p.Thr914Ser) c.*1196C>G (n.*1196C>G) c.1010C>G (p.Thr337Ser) c.732C>G n.690-303G>C | dbSNP |
10 | g.49472400G= | CA1908750287 | ERCC6 | c.2900C= (p.Thr967=) n.4303C= c.2741C= (p.Thr914=) c.*1196C= (n.*1196C=) c.1010C= (p.Thr337=) c.732C= n.690-303G= | |
10 | g.49472400G>T | CA376718434 | ERCC6 | c.2900C>A (p.Thr967Asn) n.4303C>A c.2741C>A (p.Thr914Asn) c.*1196C>A (n.*1196C>A) c.1010C>A (p.Thr337Asn) c.732C>A n.690-303G>T | |
10 | g.49472401T>A | CA376718436 | ERCC6 | c.2899A>T (p.Thr967Ser) n.4302A>T c.2740A>T (p.Thr914Ser) c.*1195A>T (n.*1195A>T) c.1009A>T (p.Thr337Ser) c.731A>T n.690-302T>A | |
10 | g.49472401T>C | CA376718437 | ERCC6 | c.2899A>G (p.Thr967Ala) n.4302A>G c.2740A>G (p.Thr914Ala) c.*1195A>G (n.*1195A>G) c.1009A>G (p.Thr337Ala) c.731A>G n.690-302T>C | |
10 | g.49472401T>G | CA376718439 | ERCC6 | c.2899A>C (p.Thr967Pro) n.4302A>C c.2740A>C (p.Thr914Pro) c.*1195A>C (n.*1195A>C) c.1009A>C (p.Thr337Pro) c.731A>C n.690-302T>G | |
10 | g.49472402G>A | CA469600833 | ERCC6 | c.2898C>T (p.Gly966=) n.4301C>T c.2739C>T (p.Gly913=) c.*1194C>T (n.*1194C>T) c.1008C>T (p.Gly336=) c.730C>T n.690-301G>A | |
10 | g.49472402G>C | CA469600831 | ERCC6 | c.2898C>G (p.Gly966=) n.4301C>G c.2739C>G (p.Gly913=) c.*1194C>G (n.*1194C>G) c.1008C>G (p.Gly336=) c.730C>G n.690-301G>C | |
10 | g.49472402G>T | CA469600832 | ERCC6 | c.2898C>A (p.Gly966=) n.4301C>A c.2739C>A (p.Gly913=) c.*1194C>A (n.*1194C>A) c.1008C>A (p.Gly336=) c.730C>A n.690-301G>T | |
10 | g.49472403C>A | CA376718445 | ERCC6 | c.2897G>T (p.Gly966Val) n.4300G>T c.2738G>T (p.Gly913Val) c.*1193G>T (n.*1193G>T) c.1007G>T (p.Gly336Val) c.729G>T n.690-300C>A | dbSNP |
10 | g.49472403C= | CA1908750288 | ERCC6 | c.2897G= (p.Gly966=) n.4300G= c.2738G= (p.Gly913=) c.*1193G= (n.*1193G=) c.1007G= (p.Gly336=) c.729G= n.690-300C= | |
10 | g.49472403C>G | CA376718443 | ERCC6 | c.2897G>C (p.Gly966Ala) n.4300G>C c.2738G>C (p.Gly913Ala) c.*1193G>C (n.*1193G>C) c.1007G>C (p.Gly336Ala) c.729G>C n.690-300C>G | |
10 | g.49472403C>T | CA376718441 | ERCC6 | c.2897G>A (p.Gly966Asp) n.4300G>A c.2738G>A (p.Gly913Asp) c.*1193G>A (n.*1193G>A) c.1007G>A (p.Gly336Asp) c.729G>A n.690-300C>T | |
10 | g.49472404C>A | CA5495491 | ERCC6 | c.2896G>T (p.Gly966Cys) n.4299G>T c.2737G>T (p.Gly913Cys) c.*1192G>T (n.*1192G>T) c.1006G>T (p.Gly336Cys) c.728G>T n.690-299C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49472404C= | CA1908750289 | ERCC6 | c.2896G= (p.Gly966=) n.4299G= c.2737G= (p.Gly913=) c.*1192G= (n.*1192G=) c.1006G= (p.Gly336=) c.728G= n.690-299C= | |
10 | g.49472404C>G | CA376718450 | ERCC6 | c.2896G>C (p.Gly966Arg) n.4299G>C c.2737G>C (p.Gly913Arg) c.*1192G>C (n.*1192G>C) c.1006G>C (p.Gly336Arg) c.728G>C n.690-299C>G | |
10 | g.49472404C>T | CA376718448 | ERCC6 | c.2896G>A (p.Gly966Ser) n.4299G>A c.2737G>A (p.Gly913Ser) c.*1192G>A (n.*1192G>A) c.1006G>A (p.Gly336Ser) c.728G>A n.690-299C>T | gnomAD v4 |
10 | g.49472405C>A | CA469600835 | ERCC6 | c.2895G>T (p.Ala965=) n.4298G>T c.2736G>T (p.Ala912=) c.*1191G>T (n.*1191G>T) c.1005G>T (p.Ala335=) c.727G>T n.690-298C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49472405C= | CA1908750290 | ERCC6 | c.2895G= (p.Ala965=) n.4298G= c.2736G= (p.Ala912=) c.*1191G= (n.*1191G=) c.1005G= (p.Ala335=) c.727G= n.690-298C= | |
10 | g.49472405C>G | CA469600834 | ERCC6 | c.2895G>C (p.Ala965=) n.4298G>C c.2736G>C (p.Ala912=) c.*1191G>C (n.*1191G>C) c.1005G>C (p.Ala335=) c.727G>C n.690-298C>G | ClinVar gnomAD v4 |
10 | g.49472405C>T | CA5495492 | ERCC6 | c.2895G>A (p.Ala965=) n.4298G>A c.2736G>A (p.Ala912=) c.*1191G>A (n.*1191G>A) c.1005G>A (p.Ala335=) c.727G>A n.690-298C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472406G>A | CA5495493 | ERCC6 | c.2894C>T (p.Ala965Val) n.4297C>T c.2735C>T (p.Ala912Val) c.*1190C>T (n.*1190C>T) c.1004C>T (p.Ala335Val) c.726C>T n.690-297G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472406G>C | CA376718453 | ERCC6 | c.2894C>G (p.Ala965Gly) n.4297C>G c.2735C>G (p.Ala912Gly) c.*1190C>G (n.*1190C>G) c.1004C>G (p.Ala335Gly) c.726C>G n.690-297G>C | |
10 | g.49472406G= | CA1908750291 | ERCC6 | c.2894C= (p.Ala965=) n.4297C= c.2735C= (p.Ala912=) c.*1190C= (n.*1190C=) c.1004C= (p.Ala335=) c.726C= n.690-297G= | |
10 | g.49472406G>T | CA376718455 | ERCC6 | c.2894C>A (p.Ala965Glu) n.4297C>A c.2735C>A (p.Ala912Glu) c.*1190C>A (n.*1190C>A) c.1004C>A (p.Ala335Glu) c.726C>A n.690-297G>T | |
10 | g.49472407C>A | CA376718457 | ERCC6 | c.2893G>T (p.Ala965Ser) n.4296G>T c.2734G>T (p.Ala912Ser) c.*1189G>T (n.*1189G>T) c.1003G>T (p.Ala335Ser) c.725G>T n.690-296C>A | |
10 | g.49472407C>G | CA376718459 | ERCC6 | c.2893G>C (p.Ala965Pro) n.4296G>C c.2734G>C (p.Ala912Pro) c.*1189G>C (n.*1189G>C) c.1003G>C (p.Ala335Pro) c.725G>C n.690-296C>G | |
10 | g.49472407C>T | CA376718460 | ERCC6 | c.2893G>A (p.Ala965Thr) n.4296G>A c.2734G>A (p.Ala912Thr) c.*1189G>A (n.*1189G>A) c.1003G>A (p.Ala335Thr) c.725G>A n.690-296C>T | |
10 | g.49472408A>C | CA469600839 | ERCC6 | c.2892T>G (p.Thr964=) n.4295T>G c.2733T>G (p.Thr911=) c.*1188T>G (n.*1188T>G) c.1002T>G (p.Thr334=) c.724T>G n.690-295A>C | |
10 | g.49472408A>G | CA469600837 | ERCC6 | c.2892T>C (p.Thr964=) n.4295T>C c.2733T>C (p.Thr911=) c.*1188T>C (n.*1188T>C) c.1002T>C (p.Thr334=) c.724T>C n.690-295A>G | |
10 | g.49472408A>T | CA469600838 | ERCC6 | c.2892T>A (p.Thr964=) n.4295T>A c.2733T>A (p.Thr911=) c.*1188T>A (n.*1188T>A) c.1002T>A (p.Thr334=) c.724T>A n.690-295A>T | |
10 | g.49472409G>A | CA5495494 | ERCC6 | c.2891C>T (p.Thr964Ile) n.4294C>T c.2732C>T (p.Thr911Ile) c.*1187C>T (n.*1187C>T) c.1001C>T (p.Thr334Ile) c.723C>T n.690-294G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472409G>C | CA376718463 | ERCC6 | c.2891C>G (p.Thr964Ser) n.4294C>G c.2732C>G (p.Thr911Ser) c.*1187C>G (n.*1187C>G) c.1001C>G (p.Thr334Ser) c.723C>G n.690-294G>C | |
10 | g.49472409G= | CA1908750292 | ERCC6 | c.2891C= (p.Thr964=) n.4294C= c.2732C= (p.Thr911=) c.*1187C= (n.*1187C=) c.1001C= (p.Thr334=) c.723C= n.690-294G= | |
10 | g.49472409G>T | CA376718465 | ERCC6 | c.2891C>A (p.Thr964Asn) n.4294C>A c.2732C>A (p.Thr911Asn) c.*1187C>A (n.*1187C>A) c.1001C>A (p.Thr334Asn) c.723C>A n.690-294G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49472410T>A | CA376718467 | ERCC6 | c.2890A>T (p.Thr964Ser) n.4293A>T c.2731A>T (p.Thr911Ser) c.*1186A>T (n.*1186A>T) c.1000A>T (p.Thr334Ser) c.722A>T n.690-293T>A | |
10 | g.49472410T>C | CA376718468 | ERCC6 | c.2890A>G (p.Thr964Ala) n.4293A>G c.2731A>G (p.Thr911Ala) c.*1186A>G (n.*1186A>G) c.1000A>G (p.Thr334Ala) c.722A>G n.690-293T>C | COSMIC |
10 | g.49472410T>G | CA376718470 | ERCC6 | c.2890A>C (p.Thr964Pro) n.4293A>C c.2731A>C (p.Thr911Pro) c.*1186A>C (n.*1186A>C) c.1000A>C (p.Thr334Pro) c.722A>C n.690-293T>G | |
10 | g.49472411C>A | CA469600842 | ERCC6 | c.2889G>T (p.Leu963=) n.4292G>T c.2730G>T (p.Leu910=) c.*1185G>T (n.*1185G>T) c.999G>T (p.Leu333=) c.721G>T n.690-292C>A | |
10 | g.49472411C>G | CA469600840 | ERCC6 | c.2889G>C (p.Leu963=) n.4292G>C c.2730G>C (p.Leu910=) c.*1185G>C (n.*1185G>C) c.999G>C (p.Leu333=) c.721G>C n.690-292C>G | |
10 | g.49472411C>T | CA469600841 | ERCC6 | c.2889G>A (p.Leu963=) n.4292G>A c.2730G>A (p.Leu910=) c.*1185G>A (n.*1185G>A) c.999G>A (p.Leu333=) c.721G>A n.690-292C>T | |
10 | g.49472412A>C | CA376718472 | ERCC6 | c.2888T>G (p.Leu963Arg) n.4291T>G c.2729T>G (p.Leu910Arg) c.*1184T>G (n.*1184T>G) c.998T>G (p.Leu333Arg) c.720T>G n.690-291A>C | |
10 | g.49472412A>G | CA376718475 | ERCC6 | c.2888T>C (p.Leu963Pro) n.4291T>C c.2729T>C (p.Leu910Pro) c.*1184T>C (n.*1184T>C) c.998T>C (p.Leu333Pro) c.720T>C n.690-291A>G | |
10 | g.49472412A>T | CA376718474 | ERCC6 | c.2888T>A (p.Leu963Gln) n.4291T>A c.2729T>A (p.Leu910Gln) c.*1184T>A (n.*1184T>A) c.998T>A (p.Leu333Gln) c.720T>A n.690-291A>T | |
10 | g.49472413G>A | CA469600843 | ERCC6 | c.2887C>T (p.Leu963=) n.4290C>T c.2728C>T (p.Leu910=) c.*1183C>T (n.*1183C>T) c.997C>T (p.Leu333=) c.719C>T n.690-290G>A | |
10 | g.49472413G>C | CA376718478 | ERCC6 | c.2887C>G (p.Leu963Val) n.4290C>G c.2728C>G (p.Leu910Val) c.*1183C>G (n.*1183C>G) c.997C>G (p.Leu333Val) c.719C>G n.690-290G>C | |
10 | g.49472413G>T | CA376718479 | ERCC6 | c.2887C>A (p.Leu963Met) n.4290C>A c.2728C>A (p.Leu910Met) c.*1183C>A (n.*1183C>A) c.997C>A (p.Leu333Met) c.719C>A n.690-290G>T | |
10 | g.49472414G>A | CA469600844 | ERCC6 | c.2886C>T (p.Leu962=) n.4289C>T c.2727C>T (p.Leu909=) c.*1182C>T (n.*1182C>T) c.996C>T (p.Leu332=) c.718C>T n.690-289G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472414G>C | CA469600846 | ERCC6 | c.2886C>G (p.Leu962=) n.4289C>G c.2727C>G (p.Leu909=) c.*1182C>G (n.*1182C>G) c.996C>G (p.Leu332=) c.718C>G n.690-289G>C | |
10 | g.49472414G= | CA1908750293 | ERCC6 | c.2886C= (p.Leu962=) n.4289C= c.2727C= (p.Leu909=) c.*1182C= (n.*1182C=) c.996C= (p.Leu332=) c.718C= n.690-289G= | |
10 | g.49472414G>T | CA469600845 | ERCC6 | c.2886C>A (p.Leu962=) n.4289C>A c.2727C>A (p.Leu909=) c.*1182C>A (n.*1182C>A) c.996C>A (p.Leu332=) c.718C>A n.690-289G>T | |
10 | g.49472415A>C | CA376718481 | ERCC6 | c.2885T>G (p.Leu962Arg) n.4288T>G c.2726T>G (p.Leu909Arg) c.*1181T>G (n.*1181T>G) c.995T>G (p.Leu332Arg) c.717T>G n.690-288A>C | |
10 | g.49472415A>G | CA376718482 | ERCC6 | c.2885T>C (p.Leu962Pro) n.4288T>C c.2726T>C (p.Leu909Pro) c.*1181T>C (n.*1181T>C) c.995T>C (p.Leu332Pro) c.717T>C n.690-288A>G | |
10 | g.49472415A>T | CA376718484 | ERCC6 | c.2885T>A (p.Leu962His) n.4288T>A c.2726T>A (p.Leu909His) c.*1181T>A (n.*1181T>A) c.995T>A (p.Leu332His) c.717T>A n.690-288A>T | |
10 | g.49472416G>A | CA376718486 | ERCC6 | c.2884C>T (p.Leu962Phe) n.4287C>T c.2725C>T (p.Leu909Phe) c.*1180C>T (n.*1180C>T) c.994C>T (p.Leu332Phe) c.716C>T n.690-287G>A | ClinVar |
10 | g.49472416G>C | CA376718487 | ERCC6 | c.2884C>G (p.Leu962Val) n.4287C>G c.2725C>G (p.Leu909Val) c.*1180C>G (n.*1180C>G) c.994C>G (p.Leu332Val) c.716C>G n.690-287G>C | |
10 | g.49472416G>T | CA376718489 | ERCC6 | c.2884C>A (p.Leu962Ile) n.4287C>A c.2725C>A (p.Leu909Ile) c.*1180C>A (n.*1180C>A) c.994C>A (p.Leu332Ile) c.716C>A n.690-287G>T | gnomAD v4 |
10 | g.49472417C>A | CA376718491 | ERCC6 | c.2883G>T (p.Arg961Ser) n.4286G>T c.2724G>T (p.Arg908Ser) c.*1179G>T (n.*1179G>T) c.993G>T (p.Arg331Ser) c.715G>T n.690-286C>A | |
10 | g.49472417C>G | CA376718493 | ERCC6 | c.2883G>C (p.Arg961Ser) n.4286G>C c.2724G>C (p.Arg908Ser) c.*1179G>C (n.*1179G>C) c.993G>C (p.Arg331Ser) c.715G>C n.690-286C>G | |
10 | g.49472417C>T | CA469600847 | ERCC6 | c.2883G>A (p.Arg961=) n.4286G>A c.2724G>A (p.Arg908=) c.*1179G>A (n.*1179G>A) c.993G>A (p.Arg331=) c.715G>A n.690-286C>T | |
10 | g.49472418C>A | CA376718498 | ERCC6 | c.2882G>T (p.Arg961Met) n.4285G>T c.2723G>T (p.Arg908Met) c.*1178G>T (n.*1178G>T) c.992G>T (p.Arg331Met) c.714G>T n.690-285C>A | |
10 | g.49472418C>G | CA376718497 | ERCC6 | c.2882G>C (p.Arg961Thr) n.4285G>C c.2723G>C (p.Arg908Thr) c.*1178G>C (n.*1178G>C) c.992G>C (p.Arg331Thr) c.714G>C n.690-285C>G | |
10 | g.49472418C>T | CA376718495 | ERCC6 | c.2882G>A (p.Arg961Lys) n.4285G>A c.2723G>A (p.Arg908Lys) c.*1178G>A (n.*1178G>A) c.992G>A (p.Arg331Lys) c.714G>A n.690-285C>T | |
10 | g.49472418_49472419insACGAAGA | CA2580081574 | ERCC6 | c.2881_2882insTCTTCGT (p.Arg961IlefsTer11) n.4284_4285insTCTTCGT c.2722_2723insTCTTCGT (p.Arg908IlefsTer11) c.*1177_*1178insTCTTCGT (n.*1177_*1178insTCTTCGT) c.991_992insTCTTCGT (p.Arg331IlefsTer11) c.713_714insTCTTCGT n.690-285_690-284insACGAAGA | ClinVar |
10 | g.49472419T>A | CA376718500 | ERCC6 | c.2881A>T (p.Arg961Trp) n.4284A>T c.2722A>T (p.Arg908Trp) c.*1177A>T (n.*1177A>T) c.991A>T (p.Arg331Trp) c.713A>T n.690-284T>A | ClinVar dbSNP |
10 | g.49472419T>C | CA376718502 | ERCC6 | c.2881A>G (p.Arg961Gly) n.4284A>G c.2722A>G (p.Arg908Gly) c.*1177A>G (n.*1177A>G) c.991A>G (p.Arg331Gly) c.713A>G n.690-284T>C | dbSNP gnomAD v4 |
10 | g.49472419T>G | CA469600848 | ERCC6 | c.2881A>C (p.Arg961=) n.4284A>C c.2722A>C (p.Arg908=) c.*1177A>C (n.*1177A>C) c.991A>C (p.Arg331=) c.713A>C n.690-284T>G | |
10 | g.49472419T= | CA1908750294 | ERCC6 | c.2881A= (p.Arg961=) n.4284A= c.2722A= (p.Arg908=) c.*1177A= (n.*1177A=) c.991A= (p.Arg331=) c.713A= n.690-284T= | |
10 | g.49472420G>A | CA469600849 | ERCC6 | c.2880C>T (p.Tyr960=) n.4283C>T c.2721C>T (p.Tyr907=) c.*1176C>T (n.*1176C>T) c.990C>T (p.Tyr330=) c.712C>T n.690-283G>A | ClinVar dbSNP gnomAD v4 |
10 | g.49472420G>C | CA376718503 | ERCC6 | c.2880C>G (p.Tyr960Ter) n.4283C>G c.2721C>G (p.Tyr907Ter) c.*1176C>G (n.*1176C>G) c.990C>G (p.Tyr330Ter) c.712C>G n.690-283G>C | |
10 | g.49472420G>T | CA376718505 | ERCC6 | c.2880C>A (p.Tyr960Ter) n.4283C>A c.2721C>A (p.Tyr907Ter) c.*1176C>A (n.*1176C>A) c.990C>A (p.Tyr330Ter) c.712C>A n.690-283G>T | |
10 | g.49472421T>A | CA376718508 | ERCC6 | c.2879A>T (p.Tyr960Phe) n.4282A>T c.2720A>T (p.Tyr907Phe) c.*1175A>T (n.*1175A>T) c.989A>T (p.Tyr330Phe) c.711A>T n.690-282T>A | |
10 | g.49472421T>C | CA376718509 | ERCC6 | c.2879A>G (p.Tyr960Cys) n.4282A>G c.2720A>G (p.Tyr907Cys) c.*1175A>G (n.*1175A>G) c.989A>G (p.Tyr330Cys) c.711A>G n.690-282T>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49472421T>G | CA376718510 | ERCC6 | c.2879A>C (p.Tyr960Ser) n.4282A>C c.2720A>C (p.Tyr907Ser) c.*1175A>C (n.*1175A>C) c.989A>C (p.Tyr330Ser) c.711A>C n.690-282T>G | |
10 | g.49472421T= | CA1908750295 | ERCC6 | c.2879A= (p.Tyr960=) n.4282A= c.2720A= (p.Tyr907=) c.*1175A= (n.*1175A=) c.989A= (p.Tyr330=) c.711A= n.690-282T= | |
10 | g.49472422A>C | CA376718513 | ERCC6 | c.2878T>G (p.Tyr960Asp) n.4281T>G c.2719T>G (p.Tyr907Asp) c.*1174T>G (n.*1174T>G) c.988T>G (p.Tyr330Asp) c.710T>G n.690-281A>C | |
10 | g.49472422A>G | CA376718517 | ERCC6 | c.2878T>C (p.Tyr960His) n.4281T>C c.2719T>C (p.Tyr907His) c.*1174T>C (n.*1174T>C) c.988T>C (p.Tyr330His) c.710T>C n.690-281A>G | |
10 | g.49472422A>T | CA376718515 | ERCC6 | c.2878T>A (p.Tyr960Asn) n.4281T>A c.2719T>A (p.Tyr907Asn) c.*1174T>A (n.*1174T>A) c.988T>A (p.Tyr330Asn) c.710T>A n.690-281A>T | |
10 | g.49472425_49472426del | CA2609134941 | ERCC6 | c.2877_2878del (p.Tyr960GlnfsTer9) n.4280_4281del c.2718_2719del (p.Tyr907GlnfsTer9) c.*1173_*1174del (n.*1173_*1174del) c.987_988del (p.Tyr330GlnfsTer9) c.709_710del n.690-278_690-277del | gnomAD v4 |
10 | g.49472423C>A | CA5495495 | ERCC6 | c.2877G>T (p.Val959=) n.4280G>T c.2718G>T (p.Val906=) c.*1173G>T (n.*1173G>T) c.987G>T (p.Val329=) c.709G>T n.690-280C>A | ClinVar dbSNP ExAC gnomAD v4 |
10 | g.49472423C= | CA1908750296 | ERCC6 | c.2877G= (p.Val959=) n.4280G= c.2718G= (p.Val906=) c.*1173G= (n.*1173G=) c.987G= (p.Val329=) c.709G= n.690-280C= | |
10 | g.49472423C>G | CA469600850 | ERCC6 | c.2877G>C (p.Val959=) n.4280G>C c.2718G>C (p.Val906=) c.*1173G>C (n.*1173G>C) c.987G>C (p.Val329=) c.709G>C n.690-280C>G | |
10 | g.49472423C>T | CA469600851 | ERCC6 | c.2877G>A (p.Val959=) n.4280G>A c.2718G>A (p.Val906=) c.*1173G>A (n.*1173G>A) c.987G>A (p.Val329=) c.709G>A n.690-280C>T | |
10 | g.49472424A= | CA1908750297 | ERCC6 | c.2876T= (p.Val959=) n.4279T= c.2717T= (p.Val906=) c.*1172T= (n.*1172T=) c.986T= (p.Val329=) c.708T= n.690-279A= | |
10 | g.49472424A>C | CA376718520 | ERCC6 | c.2876T>G (p.Val959Gly) n.4279T>G c.2717T>G (p.Val906Gly) c.*1172T>G (n.*1172T>G) c.986T>G (p.Val329Gly) c.708T>G n.690-279A>C | |
10 | g.49472424A>G | CA5495496 | ERCC6 | c.2876T>C (p.Val959Ala) n.4279T>C c.2717T>C (p.Val906Ala) c.*1172T>C (n.*1172T>C) c.986T>C (p.Val329Ala) c.708T>C n.690-279A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472424A>T | CA376718523 | ERCC6 | c.2876T>A (p.Val959Glu) n.4279T>A c.2717T>A (p.Val906Glu) c.*1172T>A (n.*1172T>A) c.986T>A (p.Val329Glu) c.708T>A n.690-279A>T | |
10 | g.49472425C>A | CA5495497 | ERCC6 | c.2875G>T (p.Val959Leu) n.4278G>T c.2716G>T (p.Val906Leu) c.*1171G>T (n.*1171G>T) c.985G>T (p.Val329Leu) c.707G>T n.690-278C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472425C= | CA1908750298 | ERCC6 | c.2875G= (p.Val959=) n.4278G= c.2716G= (p.Val906=) c.*1171G= (n.*1171G=) c.985G= (p.Val329=) c.707G= n.690-278C= | |
10 | g.49472425C>G | CA376718528 | ERCC6 | c.2875G>C (p.Val959Leu) n.4278G>C c.2716G>C (p.Val906Leu) c.*1171G>C (n.*1171G>C) c.985G>C (p.Val329Leu) c.707G>C n.690-278C>G | |
10 | g.49472425C>T | CA376718526 | ERCC6 | c.2875G>A (p.Val959Met) n.4278G>A c.2716G>A (p.Val906Met) c.*1171G>A (n.*1171G>A) c.985G>A (p.Val329Met) c.707G>A n.690-278C>T | |
10 | g.49472426A>C | CA469600853 | ERCC6 | c.2874T>G (p.Thr958=) n.4277T>G c.2715T>G (p.Thr905=) c.*1170T>G (n.*1170T>G) c.984T>G (p.Thr328=) c.706T>G n.690-277A>C | |
10 | g.49472426A>G | CA469600854 | ERCC6 | c.2874T>C (p.Thr958=) n.4277T>C c.2715T>C (p.Thr905=) c.*1170T>C (n.*1170T>C) c.984T>C (p.Thr328=) c.706T>C n.690-277A>G | |
10 | g.49472426A>T | CA469600852 | ERCC6 | c.2874T>A (p.Thr958=) n.4277T>A c.2715T>A (p.Thr905=) c.*1170T>A (n.*1170T>A) c.984T>A (p.Thr328=) c.706T>A n.690-277A>T | gnomAD v4 |
10 | g.49472427G>A | CA376718530 | ERCC6 | c.2873C>T (p.Thr958Ile) n.4276C>T c.2714C>T (p.Thr905Ile) c.*1169C>T (n.*1169C>T) c.983C>T (p.Thr328Ile) c.705C>T n.690-276G>A | |
10 | g.49472427G>C | CA376718532 | ERCC6 | c.2873C>G (p.Thr958Ser) n.4276C>G c.2714C>G (p.Thr905Ser) c.*1169C>G (n.*1169C>G) c.983C>G (p.Thr328Ser) c.705C>G n.690-276G>C | gnomAD v4 |
10 | g.49472427G>T | CA376718534 | ERCC6 | c.2873C>A (p.Thr958Asn) n.4276C>A c.2714C>A (p.Thr905Asn) c.*1169C>A (n.*1169C>A) c.983C>A (p.Thr328Asn) c.705C>A n.690-276G>T | |
10 | g.49472428T>A | CA376718536 | ERCC6 | c.2872A>T (p.Thr958Ser) n.4275A>T c.2713A>T (p.Thr905Ser) c.*1168A>T (n.*1168A>T) c.982A>T (p.Thr328Ser) c.704A>T n.690-275T>A | |
10 | g.49472428T>C | CA376718537 | ERCC6 | c.2872A>G (p.Thr958Ala) n.4275A>G c.2713A>G (p.Thr905Ala) c.*1168A>G (n.*1168A>G) c.982A>G (p.Thr328Ala) c.704A>G n.690-275T>C | |
10 | g.49472428T>G | CA376718539 | ERCC6 | c.2872A>C (p.Thr958Pro) n.4275A>C c.2713A>C (p.Thr905Pro) c.*1168A>C (n.*1168A>C) c.982A>C (p.Thr328Pro) c.704A>C n.690-275T>G | |
10 | g.49472429C>A | CA469600857 | ERCC6 | c.2871G>T (p.Val957=) n.4274G>T c.2712G>T (p.Val904=) c.*1167G>T (n.*1167G>T) c.981G>T (p.Val327=) c.703G>T n.690-274C>A | |
10 | g.49472429C= | CA1908750299 | ERCC6 | c.2871G= (p.Val957=) n.4274G= c.2712G= (p.Val904=) c.*1167G= (n.*1167G=) c.981G= (p.Val327=) c.703G= n.690-274C= | |
10 | g.49472429C>G | CA469600856 | ERCC6 | c.2871G>C (p.Val957=) n.4274G>C c.2712G>C (p.Val904=) c.*1167G>C (n.*1167G>C) c.981G>C (p.Val327=) c.703G>C n.690-274C>G | gnomAD v4 |
10 | g.49472429C>T | CA469600855 | ERCC6 | c.2871G>A (p.Val957=) n.4274G>A c.2712G>A (p.Val904=) c.*1167G>A (n.*1167G>A) c.981G>A (p.Val327=) c.703G>A n.690-274C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49472430A= | CA1908750300 | ERCC6 | c.2870T= (p.Val957=) n.4273T= c.2711T= (p.Val904=) c.*1166T= (n.*1166T=) c.980T= (p.Val327=) c.702T= n.690-273A= | |
10 | g.49472430A>C | CA376718541 | ERCC6 | c.2870T>G (p.Val957Gly) n.4273T>G c.2711T>G (p.Val904Gly) c.*1166T>G (n.*1166T>G) c.980T>G (p.Val327Gly) c.702T>G n.690-273A>C | ClinVar dbSNP gnomAD v4 |
10 | g.49472430A>G | CA376718543 | ERCC6 | c.2870T>C (p.Val957Ala) n.4273T>C c.2711T>C (p.Val904Ala) c.*1166T>C (n.*1166T>C) c.980T>C (p.Val327Ala) c.702T>C n.690-273A>G | |
10 | g.49472430A>T | CA376718545 | ERCC6 | c.2870T>A (p.Val957Glu) n.4273T>A c.2711T>A (p.Val904Glu) c.*1166T>A (n.*1166T>A) c.980T>A (p.Val327Glu) c.702T>A n.690-273A>T | |
10 | g.49472430_49472433del | CA2695212012 | ERCC6 | c.2867_2870del (p.Gln956ArgfsTer7) n.4270_4273del c.2708_2711del (p.Gln903ArgfsTer7) c.*1163_*1166del (n.*1163_*1166del) c.977_980del (p.Gln326ArgfsTer7) c.699_702del n.690-273_690-270del | |
10 | g.49472431C>A | CA376718547 | ERCC6 | c.2869G>T (p.Val957Leu) n.4272G>T c.2710G>T (p.Val904Leu) c.*1165G>T (n.*1165G>T) c.979G>T (p.Val327Leu) c.701G>T n.690-272C>A | |
10 | g.49472431C>G | CA376718549 | ERCC6 | c.2869G>C (p.Val957Leu) n.4272G>C c.2710G>C (p.Val904Leu) c.*1165G>C (n.*1165G>C) c.979G>C (p.Val327Leu) c.701G>C n.690-272C>G | |
10 | g.49472431C>T | CA376718550 | ERCC6 | c.2869G>A (p.Val957Met) n.4272G>A c.2710G>A (p.Val904Met) c.*1165G>A (n.*1165G>A) c.979G>A (p.Val327Met) c.701G>A n.690-272C>T | |
10 | g.49472432T>A | CA376718552 | ERCC6 | c.2868A>T (p.Gln956His) n.4271A>T c.2709A>T (p.Gln903His) c.*1164A>T (n.*1164A>T) c.978A>T (p.Gln326His) c.700A>T n.690-271T>A | |
10 | g.49472432T>C | CA469600858 | ERCC6 | c.2868A>G (p.Gln956=) n.4271A>G c.2709A>G (p.Gln903=) c.*1164A>G (n.*1164A>G) c.978A>G (p.Gln326=) c.700A>G n.690-271T>C | ClinVar dbSNP |
10 | g.49472432T>G | CA376718554 | ERCC6 | c.2868A>C (p.Gln956His) n.4271A>C c.2709A>C (p.Gln903His) c.*1164A>C (n.*1164A>C) c.978A>C (p.Gln326His) c.700A>C n.690-271T>G | |
10 | g.49472432T= | CA1908750301 | ERCC6 | c.2868A= (p.Gln956=) n.4271A= c.2709A= (p.Gln903=) c.*1164A= (n.*1164A=) c.978A= (p.Gln326=) c.700A= n.690-271T= | |
10 | g.49472433T>A | CA376718556 | ERCC6 | c.2867A>T (p.Gln956Leu) n.4270A>T c.2708A>T (p.Gln903Leu) c.*1163A>T (n.*1163A>T) c.977A>T (p.Gln326Leu) c.699A>T n.690-270T>A | |
10 | g.49472433T>C | CA376718560 | ERCC6 | c.2867A>G (p.Gln956Arg) n.4270A>G c.2708A>G (p.Gln903Arg) c.*1163A>G (n.*1163A>G) c.977A>G (p.Gln326Arg) c.699A>G n.690-270T>C | |
10 | g.49472433T>G | CA376718558 | ERCC6 | c.2867A>C (p.Gln956Pro) n.4270A>C c.2708A>C (p.Gln903Pro) c.*1163A>C (n.*1163A>C) c.977A>C (p.Gln326Pro) c.699A>C n.690-270T>G | |
10 | g.49472434G>A | CA376718562 | ERCC6 | c.2866C>T (p.Gln956Ter) n.4269C>T c.2707C>T (p.Gln903Ter) c.*1162C>T (n.*1162C>T) c.976C>T (p.Gln326Ter) c.698C>T n.690-269G>A | |
10 | g.49472434G>C | CA376718565 | ERCC6 | c.2866C>G (p.Gln956Glu) n.4269C>G c.2707C>G (p.Gln903Glu) c.*1162C>G (n.*1162C>G) c.976C>G (p.Gln326Glu) c.698C>G n.690-269G>C | |
10 | g.49472434G>T | CA376718563 | ERCC6 | c.2866C>A (p.Gln956Lys) n.4269C>A c.2707C>A (p.Gln903Lys) c.*1162C>A (n.*1162C>A) c.976C>A (p.Gln326Lys) c.698C>A n.690-269G>T | |
10 | g.49472435C>A | CA376718567 | ERCC6 | c.2865G>T (p.Lys955Asn) n.4268G>T c.2706G>T (p.Lys902Asn) c.*1161G>T (n.*1161G>T) c.975G>T (p.Lys325Asn) c.697G>T n.690-268C>A | |
10 | g.49472435C= | CA1908750302 | ERCC6 | c.2865G= (p.Lys955=) n.4268G= c.2706G= (p.Lys902=) c.*1161G= (n.*1161G=) c.975G= (p.Lys325=) c.697G= n.690-268C= | |
10 | g.49472435C>G | CA376718569 | ERCC6 | c.2865G>C (p.Lys955Asn) n.4268G>C c.2706G>C (p.Lys902Asn) c.*1161G>C (n.*1161G>C) c.975G>C (p.Lys325Asn) c.697G>C n.690-268C>G | |
10 | g.49472435C>T | CA5495498 | ERCC6 | c.2865G>A (p.Lys955=) n.4268G>A c.2706G>A (p.Lys902=) c.*1161G>A (n.*1161G>A) c.975G>A (p.Lys325=) c.697G>A n.690-268C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472435_49472448delinsCTTCTTCTGGCCTA | CA1908750303 | ERCC6 | c.2852_2865delinsTAGGCCAGAAGAAG (p.Ile951=) n.4255_4268delinsTAGGCCAGAAGAAG c.2693_2706delinsTAGGCCAGAAGAAG (p.Ile898=) c.*1148_*1161delinsTAGGCCAGAAGAAG (n.*1148_*1161delinsTAGGCCAGAAGAAG) c.962_975delinsTAGGCCAGAAGAAG (p.Ile321=) c.684_697delinsTAGGCCAGAAGAAG n.690-268_690-255delinsCTTCTTCTGGCCTA | |
10 | g.49472436T>A | CA376718571 | ERCC6 | c.2864A>T (p.Lys955Met) n.4267A>T c.2705A>T (p.Lys902Met) c.*1160A>T (n.*1160A>T) c.974A>T (p.Lys325Met) c.696A>T n.690-267T>A | |
10 | g.49472436T>C | CA376718572 | ERCC6 | c.2864A>G (p.Lys955Arg) n.4267A>G c.2705A>G (p.Lys902Arg) c.*1160A>G (n.*1160A>G) c.974A>G (p.Lys325Arg) c.696A>G n.690-267T>C | |
10 | g.49472436T>G | CA376718573 | ERCC6 | c.2864A>C (p.Lys955Thr) n.4267A>C c.2705A>C (p.Lys902Thr) c.*1160A>C (n.*1160A>C) c.974A>C (p.Lys325Thr) c.696A>C n.690-267T>G | |
10 | g.49472440_49472452del | CA928210054 | ERCC6 | c.2852_2864del (p.Ile951SerfsTer3) n.4255_4267del c.2693_2705del (p.Ile898SerfsTer3) c.*1148_*1160del (n.*1148_*1160del) c.962_974del (p.Ile321SerfsTer3) c.684_696del n.690-263_690-251del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49472437T>A | CA376718579 | ERCC6 | c.2863A>T (p.Lys955Ter) n.4266A>T c.2704A>T (p.Lys902Ter) c.*1159A>T (n.*1159A>T) c.973A>T (p.Lys325Ter) c.695A>T n.690-266T>A | |
10 | g.49472437T>C | CA376718576 | ERCC6 | c.2863A>G (p.Lys955Glu) n.4266A>G c.2704A>G (p.Lys902Glu) c.*1159A>G (n.*1159A>G) c.973A>G (p.Lys325Glu) c.695A>G n.690-266T>C | |
10 | g.49472437T>G | CA376718578 | ERCC6 | c.2863A>C (p.Lys955Gln) n.4266A>C c.2704A>C (p.Lys902Gln) c.*1159A>C (n.*1159A>C) c.973A>C (p.Lys325Gln) c.695A>C n.690-266T>G | |
10 | g.49472438C>A | CA376718581 | ERCC6 | c.2862G>T (p.Lys954Asn) n.4265G>T c.2703G>T (p.Lys901Asn) c.*1158G>T (n.*1158G>T) c.972G>T (p.Lys324Asn) c.694G>T n.690-265C>A | |
10 | g.49472438C>G | CA376718583 | ERCC6 | c.2862G>C (p.Lys954Asn) n.4265G>C c.2703G>C (p.Lys901Asn) c.*1158G>C (n.*1158G>C) c.972G>C (p.Lys324Asn) c.694G>C n.690-265C>G | |
10 | g.49472438C>T | CA469600859 | ERCC6 | c.2862G>A (p.Lys954=) n.4265G>A c.2703G>A (p.Lys901=) c.*1158G>A (n.*1158G>A) c.972G>A (p.Lys324=) c.694G>A n.690-265C>T | |
10 | g.49472439T>A | CA376718585 | ERCC6 | c.2861A>T (p.Lys954Met) n.4264A>T c.2702A>T (p.Lys901Met) c.*1157A>T (n.*1157A>T) c.971A>T (p.Lys324Met) c.693A>T n.690-264T>A | |
10 | g.49472439T>C | CA376718589 | ERCC6 | c.2861A>G (p.Lys954Arg) n.4264A>G c.2702A>G (p.Lys901Arg) c.*1157A>G (n.*1157A>G) c.971A>G (p.Lys324Arg) c.693A>G n.690-264T>C | |
10 | g.49472439T>G | CA376718591 | ERCC6 | c.2861A>C (p.Lys954Thr) n.4264A>C c.2702A>C (p.Lys901Thr) c.*1157A>C (n.*1157A>C) c.971A>C (p.Lys324Thr) c.693A>C n.690-264T>G | |
10 | g.49472440T>A | CA376718594 | ERCC6 | c.2860A>T (p.Lys954Ter) n.4263A>T c.2701A>T (p.Lys901Ter) c.*1156A>T (n.*1156A>T) c.970A>T (p.Lys324Ter) c.692A>T n.690-263T>A | |
10 | g.49472440T>C | CA376718597 | ERCC6 | c.2860A>G (p.Lys954Glu) n.4263A>G c.2701A>G (p.Lys901Glu) c.*1156A>G (n.*1156A>G) c.970A>G (p.Lys324Glu) c.692A>G n.690-263T>C | |
10 | g.49472440T>G | CA376718595 | ERCC6 | c.2860A>C (p.Lys954Gln) n.4263A>C c.2701A>C (p.Lys901Gln) c.*1156A>C (n.*1156A>C) c.970A>C (p.Lys324Gln) c.692A>C n.690-263T>G | |
10 | g.49472441C>A | CA376718598 | ERCC6 | c.2859G>T (p.Gln953His) n.4262G>T c.2700G>T (p.Gln900His) c.*1155G>T (n.*1155G>T) c.969G>T (p.Gln323His) c.691G>T n.690-262C>A | |
10 | g.49472441C>G | CA376718600 | ERCC6 | c.2859G>C (p.Gln953His) n.4262G>C c.2700G>C (p.Gln900His) c.*1155G>C (n.*1155G>C) c.969G>C (p.Gln323His) c.691G>C n.690-262C>G | COSMIC |
10 | g.49472441C>T | CA469600860 | ERCC6 | c.2859G>A (p.Gln953=) n.4262G>A c.2700G>A (p.Gln900=) c.*1155G>A (n.*1155G>A) c.969G>A (p.Gln323=) c.691G>A n.690-262C>T | |
10 | g.49472442T>A | CA376718602 | ERCC6 | c.2858A>T (p.Gln953Leu) n.4261A>T c.2699A>T (p.Gln900Leu) c.*1154A>T (n.*1154A>T) c.968A>T (p.Gln323Leu) c.690A>T n.690-261T>A | |
10 | g.49472442T>C | CA376718604 | ERCC6 | c.2858A>G (p.Gln953Arg) n.4261A>G c.2699A>G (p.Gln900Arg) c.*1154A>G (n.*1154A>G) c.968A>G (p.Gln323Arg) c.690A>G n.690-261T>C | |
10 | g.49472442T>G | CA376718606 | ERCC6 | c.2858A>C (p.Gln953Pro) n.4261A>C c.2699A>C (p.Gln900Pro) c.*1154A>C (n.*1154A>C) c.968A>C (p.Gln323Pro) c.690A>C n.690-261T>G | |
10 | g.49472443G>A | CA376718611 | ERCC6 | c.2857C>T (p.Gln953Ter) n.4260C>T c.2698C>T (p.Gln900Ter) c.*1153C>T (n.*1153C>T) c.967C>T (p.Gln323Ter) c.689C>T n.690-260G>A | ClinVar dbSNP |
10 | g.49472443G>C | CA376718612 | ERCC6 | c.2857C>G (p.Gln953Glu) n.4260C>G c.2698C>G (p.Gln900Glu) c.*1153C>G (n.*1153C>G) c.967C>G (p.Gln323Glu) c.689C>G n.690-260G>C | |
10 | g.49472443G= | CA1908750304 | ERCC6 | c.2857C= (p.Gln953=) n.4260C= c.2698C= (p.Gln900=) c.*1153C= (n.*1153C=) c.967C= (p.Gln323=) c.689C= n.690-260G= | |
10 | g.49472443G>T | CA206586237 | ERCC6 | c.2857C>A (p.Gln953Lys) n.4260C>A c.2698C>A (p.Gln900Lys) c.*1153C>A (n.*1153C>A) c.967C>A (p.Gln323Lys) c.689C>A n.690-260G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472444G>A | CA469600861 | ERCC6 | c.2856C>T (p.Gly952=) n.4259C>T c.2697C>T (p.Gly899=) c.*1152C>T (n.*1152C>T) c.966C>T (p.Gly322=) c.688C>T n.690-259G>A | gnomAD v4 COSMIC |
10 | g.49472444G>C | CA469600863 | ERCC6 | c.2856C>G (p.Gly952=) n.4259C>G c.2697C>G (p.Gly899=) c.*1152C>G (n.*1152C>G) c.966C>G (p.Gly322=) c.688C>G n.690-259G>C | gnomAD v4 |
10 | g.49472444G>T | CA469600862 | ERCC6 | c.2856C>A (p.Gly952=) n.4259C>A c.2697C>A (p.Gly899=) c.*1152C>A (n.*1152C>A) c.966C>A (p.Gly322=) c.688C>A n.690-259G>T | |
10 | g.49472445C>A | CA376718615 | ERCC6 | c.2855G>T (p.Gly952Val) n.4258G>T c.2696G>T (p.Gly899Val) c.*1151G>T (n.*1151G>T) c.965G>T (p.Gly322Val) c.687G>T n.690-258C>A | |
10 | g.49472445C= | CA1908750305 | ERCC6 | c.2855G= (p.Gly952=) n.4258G= c.2696G= (p.Gly899=) c.*1151G= (n.*1151G=) c.965G= (p.Gly322=) c.687G= n.690-258C= | |
10 | g.49472445C>G | CA376718616 | ERCC6 | c.2855G>C (p.Gly952Ala) n.4258G>C c.2696G>C (p.Gly899Ala) c.*1151G>C (n.*1151G>C) c.965G>C (p.Gly322Ala) c.687G>C n.690-258C>G | |
10 | g.49472445C>T | CA376718617 | ERCC6 | c.2855G>A (p.Gly952Asp) n.4258G>A c.2696G>A (p.Gly899Asp) c.*1151G>A (n.*1151G>A) c.965G>A (p.Gly322Asp) c.687G>A n.690-258C>T | dbSNP |
10 | g.49472446C>A | CA376718619 | ERCC6 | c.2854G>T (p.Gly952Cys) n.4257G>T c.2695G>T (p.Gly899Cys) c.*1150G>T (n.*1150G>T) c.964G>T (p.Gly322Cys) c.686G>T n.690-257C>A | |
10 | g.49472446C>G | CA376718623 | ERCC6 | c.2854G>C (p.Gly952Arg) n.4257G>C c.2695G>C (p.Gly899Arg) c.*1150G>C (n.*1150G>C) c.964G>C (p.Gly322Arg) c.686G>C n.690-257C>G | |
10 | g.49472446C>T | CA376718621 | ERCC6 | c.2854G>A (p.Gly952Ser) n.4257G>A c.2695G>A (p.Gly899Ser) c.*1150G>A (n.*1150G>A) c.964G>A (p.Gly322Ser) c.686G>A n.690-257C>T | |
10 | g.49472447T>A | CA469600865 | ERCC6 | c.2853A>T (p.Ile951=) n.4256A>T c.2694A>T (p.Ile898=) c.*1149A>T (n.*1149A>T) c.963A>T (p.Ile321=) c.685A>T n.690-256T>A | |
10 | g.49472447T>C | CA376718625 | ERCC6 | c.2853A>G (p.Ile951Met) n.4256A>G c.2694A>G (p.Ile898Met) c.*1149A>G (n.*1149A>G) c.963A>G (p.Ile321Met) c.685A>G n.690-256T>C | |
10 | g.49472447T>G | CA469600864 | ERCC6 | c.2853A>C (p.Ile951=) n.4256A>C c.2694A>C (p.Ile898=) c.*1149A>C (n.*1149A>C) c.963A>C (p.Ile321=) c.685A>C n.690-256T>G | |
10 | g.49472448A= | CA1908750306 | ERCC6 | c.2852T= (p.Ile951=) n.4255T= c.2693T= (p.Ile898=) c.*1148T= (n.*1148T=) c.962T= (p.Ile321=) c.684T= n.690-255A= | |
10 | g.49472448A>C | CA376718626 | ERCC6 | c.2852T>G (p.Ile951Arg) n.4255T>G c.2693T>G (p.Ile898Arg) c.*1148T>G (n.*1148T>G) c.962T>G (p.Ile321Arg) c.684T>G n.690-255A>C | dbSNP |
10 | g.49472448A>G | CA376718628 | ERCC6 | c.2852T>C (p.Ile951Thr) n.4255T>C c.2693T>C (p.Ile898Thr) c.*1148T>C (n.*1148T>C) c.962T>C (p.Ile321Thr) c.684T>C n.690-255A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49472448A>T | CA376718630 | ERCC6 | c.2852T>A (p.Ile951Lys) n.4255T>A c.2693T>A (p.Ile898Lys) c.*1148T>A (n.*1148T>A) c.962T>A (p.Ile321Lys) c.684T>A n.690-255A>T | |
10 | g.49472449T>A | CA376718632 | ERCC6 | c.2851A>T (p.Ile951Leu) n.4254A>T c.2692A>T (p.Ile898Leu) c.*1147A>T (n.*1147A>T) c.961A>T (p.Ile321Leu) c.683A>T n.690-254T>A | |
10 | g.49472449T>C | CA376718633 | ERCC6 | c.2851A>G (p.Ile951Val) n.4254A>G c.2692A>G (p.Ile898Val) c.*1147A>G (n.*1147A>G) c.961A>G (p.Ile321Val) c.683A>G n.690-254T>C | |
10 | g.49472449T>G | CA376718634 | ERCC6 | c.2851A>C (p.Ile951Leu) n.4254A>C c.2692A>C (p.Ile898Leu) c.*1147A>C (n.*1147A>C) c.961A>C (p.Ile321Leu) c.683A>C n.690-254T>G | |
10 | g.49472450T>A | CA376718637 | ERCC6 | c.2850A>T (p.Arg950Ser) n.4253A>T c.2691A>T (p.Arg897Ser) c.*1146A>T (n.*1146A>T) c.960A>T (p.Arg320Ser) c.682A>T n.690-253T>A | |
10 | g.49472450T>C | CA469600866 | ERCC6 | c.2850A>G (p.Arg950=) n.4253A>G c.2691A>G (p.Arg897=) c.*1146A>G (n.*1146A>G) c.960A>G (p.Arg320=) c.682A>G n.690-253T>C | |
10 | g.49472450T>G | CA376718639 | ERCC6 | c.2850A>C (p.Arg950Ser) n.4253A>C c.2691A>C (p.Arg897Ser) c.*1146A>C (n.*1146A>C) c.960A>C (p.Arg320Ser) c.682A>C n.690-253T>G | |
10 | g.49472451C>A | CA376718640 | ERCC6 | c.2849G>T (p.Arg950Ile) n.4252G>T c.2690G>T (p.Arg897Ile) c.*1145G>T (n.*1145G>T) c.959G>T (p.Arg320Ile) c.681G>T n.690-252C>A | |
10 | g.49472451C>G | CA376718641 | ERCC6 | c.2849G>C (p.Arg950Thr) n.4252G>C c.2690G>C (p.Arg897Thr) c.*1145G>C (n.*1145G>C) c.959G>C (p.Arg320Thr) c.681G>C n.690-252C>G | |
10 | g.49472451C>T | CA376718642 | ERCC6 | c.2849G>A (p.Arg950Lys) n.4252G>A c.2690G>A (p.Arg897Lys) c.*1145G>A (n.*1145G>A) c.959G>A (p.Arg320Lys) c.681G>A n.690-252C>T | |
10 | g.49472452T>A | CA376718644 | ERCC6 | c.2848A>T (p.Arg950Ter) n.4251A>T c.2689A>T (p.Arg897Ter) c.*1144A>T (n.*1144A>T) c.958A>T (p.Arg320Ter) c.680A>T n.690-251T>A | |
10 | g.49472452T>C | CA5495499 | ERCC6 | c.2848A>G (p.Arg950Gly) n.4251A>G c.2689A>G (p.Arg897Gly) c.*1144A>G (n.*1144A>G) c.958A>G (p.Arg320Gly) c.680A>G n.690-251T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49472452T>G | CA469600868 | ERCC6 | c.2848A>C (p.Arg950=) n.4251A>C c.2689A>C (p.Arg897=) c.*1144A>C (n.*1144A>C) c.958A>C (p.Arg320=) c.680A>C n.690-251T>G | |
10 | g.49472452T= | CA1908750307 | ERCC6 | c.2848A= (p.Arg950=) n.4251A= c.2689A= (p.Arg897=) c.*1144A= (n.*1144A=) c.958A= (p.Arg320=) c.680A= n.690-251T= | |
10 | g.49472453C>A | CA376718646 | ERCC6 | c.2847G>T (p.Trp949Cys) n.4250G>T c.2688G>T (p.Trp896Cys) c.*1143G>T (n.*1143G>T) c.957G>T (p.Trp319Cys) c.679G>T n.690-250C>A | |
10 | g.49472453C>G | CA376718647 | ERCC6 | c.2847G>C (p.Trp949Cys) n.4250G>C c.2688G>C (p.Trp896Cys) c.*1143G>C (n.*1143G>C) c.957G>C (p.Trp319Cys) c.679G>C n.690-250C>G | |
10 | g.49472453C>T | CA376718649 | ERCC6 | c.2847G>A (p.Trp949Ter) n.4250G>A c.2688G>A (p.Trp896Ter) c.*1143G>A (n.*1143G>A) c.957G>A (p.Trp319Ter) c.679G>A n.690-250C>T | |
10 | g.49472454C>A | CA376718653 | ERCC6 | c.2846G>T (p.Trp949Leu) n.4249G>T c.2687G>T (p.Trp896Leu) c.*1142G>T (n.*1142G>T) c.956G>T (p.Trp319Leu) c.678G>T n.690-249C>A | |
10 | g.49472454C= | CA1908750308 | ERCC6 | c.2846G= (p.Trp949=) n.4249G= c.2687G= (p.Trp896=) c.*1142G= (n.*1142G=) c.956G= (p.Trp319=) c.678G= n.690-249C= | |
10 | g.49472454C>G | CA376718656 | ERCC6 | c.2846G>C (p.Trp949Ser) n.4249G>C c.2687G>C (p.Trp896Ser) c.*1142G>C (n.*1142G>C) c.956G>C (p.Trp319Ser) c.678G>C n.690-249C>G | |
10 | g.49472454C>T | CA376718659 | ERCC6 | c.2846G>A (p.Trp949Ter) n.4249G>A c.2687G>A (p.Trp896Ter) c.*1142G>A (n.*1142G>A) c.956G>A (p.Trp319Ter) c.678G>A n.690-249C>T | ClinVar dbSNP gnomAD v4 |
10 | g.49472455A>C | CA376718661 | ERCC6 | c.2845T>G (p.Trp949Gly) n.4248T>G c.2686T>G (p.Trp896Gly) c.*1141T>G (n.*1141T>G) c.955T>G (p.Trp319Gly) c.677T>G n.690-248A>C | gnomAD v4 |
10 | g.49472455A>G | CA376718663 | ERCC6 | c.2845T>C (p.Trp949Arg) n.4248T>C c.2686T>C (p.Trp896Arg) c.*1141T>C (n.*1141T>C) c.955T>C (p.Trp319Arg) c.677T>C n.690-248A>G | |
10 | g.49472455A>T | CA376718666 | ERCC6 | c.2845T>A (p.Trp949Arg) n.4248T>A c.2686T>A (p.Trp896Arg) c.*1141T>A (n.*1141T>A) c.955T>A (p.Trp319Arg) c.677T>A n.690-248A>T | |
10 | g.49472456T>A | CA469600871 | ERCC6 | c.2844A>T (p.Ala948=) n.4247A>T c.2685A>T (p.Ala895=) c.*1140A>T (n.*1140A>T) c.954A>T (p.Ala318=) c.676A>T n.690-247T>A | ClinVar dbSNP |
10 | g.49472456T>C | CA469600870 | ERCC6 | c.2844A>G (p.Ala948=) n.4247A>G c.2685A>G (p.Ala895=) c.*1140A>G (n.*1140A>G) c.954A>G (p.Ala318=) c.676A>G n.690-247T>C | gnomAD v4 |
10 | g.49472456T>G | CA469600869 | ERCC6 | c.2844A>C (p.Ala948=) n.4247A>C c.2685A>C (p.Ala895=) c.*1140A>C (n.*1140A>C) c.954A>C (p.Ala318=) c.676A>C n.690-247T>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49472456T= | CA1908750309 | ERCC6 | c.2844A= (p.Ala948=) n.4247A= c.2685A= (p.Ala895=) c.*1140A= (n.*1140A=) c.954A= (p.Ala318=) c.676A= n.690-247T= | |
10 | g.49472457G>A | CA376718669 | ERCC6 | c.2843C>T (p.Ala948Val) n.4246C>T c.2684C>T (p.Ala895Val) c.*1139C>T (n.*1139C>T) c.953C>T (p.Ala318Val) c.675C>T n.690-246G>A | gnomAD v4 |
10 | g.49472457G>C | CA376718672 | ERCC6 | c.2843C>G (p.Ala948Gly) n.4246C>G c.2684C>G (p.Ala895Gly) c.*1139C>G (n.*1139C>G) c.953C>G (p.Ala318Gly) c.675C>G n.690-246G>C | |
10 | g.49472457G>T | CA376718675 | ERCC6 | c.2843C>A (p.Ala948Glu) n.4246C>A c.2684C>A (p.Ala895Glu) c.*1139C>A (n.*1139C>A) c.953C>A (p.Ala318Glu) c.675C>A n.690-246G>T | |
10 | g.49472458C>A | CA376718680 | ERCC6 | c.2842G>T (p.Ala948Ser) n.4245G>T c.2683G>T (p.Ala895Ser) c.*1138G>T (n.*1138G>T) c.952G>T (p.Ala318Ser) c.674G>T n.690-245C>A | |
10 | g.49472458C= | CA1908750310 | ERCC6 | c.2842G= (p.Ala948=) n.4245G= c.2683G= (p.Ala895=) c.*1138G= (n.*1138G=) c.952G= (p.Ala318=) c.674G= n.690-245C= | |
10 | g.49472458C>G | CA376718683 | ERCC6 | c.2842G>C (p.Ala948Pro) n.4245G>C c.2683G>C (p.Ala895Pro) c.*1138G>C (n.*1138G>C) c.952G>C (p.Ala318Pro) c.674G>C n.690-245C>G | dbSNP |
10 | g.49472458C>T | CA376718678 | ERCC6 | c.2842G>A (p.Ala948Thr) n.4245G>A c.2683G>A (p.Ala895Thr) c.*1138G>A (n.*1138G>A) c.952G>A (p.Ala318Thr) c.674G>A n.690-245C>T | |
10 | g.49472459T>A | CA469600872 | ERCC6 | c.2841A>T (p.Arg947=) n.4244A>T c.2682A>T (p.Arg894=) c.*1137A>T (n.*1137A>T) c.951A>T (p.Arg317=) c.673A>T n.690-244T>A | |
10 | g.49472459T>C | CA469600873 | ERCC6 | c.2841A>G (p.Arg947=) n.4244A>G c.2682A>G (p.Arg894=) c.*1137A>G (n.*1137A>G) c.951A>G (p.Arg317=) c.673A>G n.690-244T>C | |
10 | g.49472459T>G | CA469600874 | ERCC6 | c.2841A>C (p.Arg947=) n.4244A>C c.2682A>C (p.Arg894=) c.*1137A>C (n.*1137A>C) c.951A>C (p.Arg317=) c.673A>C n.690-244T>G | |
10 | g.49472460C>A | CA376718695 | ERCC6 | c.2840G>T (p.Arg947Leu) n.4243G>T c.2681G>T (p.Arg894Leu) c.*1136G>T (n.*1136G>T) c.950G>T (p.Arg317Leu) c.672G>T n.690-243C>A | |
10 | g.49472460C= | CA1908750311 | ERCC6 | c.2840G= (p.Arg947=) n.4243G= c.2681G= (p.Arg894=) c.*1136G= (n.*1136G=) c.950G= (p.Arg317=) c.672G= n.690-243C= | |
10 | g.49472460C>G | CA376718689 | ERCC6 | c.2840G>C (p.Arg947Pro) n.4243G>C c.2681G>C (p.Arg894Pro) c.*1136G>C (n.*1136G>C) c.950G>C (p.Arg317Pro) c.672G>C n.690-243C>G | |
10 | g.49472460C>T | CA376718692 | ERCC6 | c.2840G>A (p.Arg947Gln) n.4243G>A c.2681G>A (p.Arg894Gln) c.*1136G>A (n.*1136G>A) c.950G>A (p.Arg317Gln) c.672G>A n.690-243C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49472461G>A | CA206586242 | ERCC6 | c.2839C>T (p.Arg947Ter) n.4242C>T c.2680C>T (p.Arg894Ter) c.*1135C>T (n.*1135C>T) c.949C>T (p.Arg317Ter) c.671C>T n.690-242G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472461G>C | CA376718699 | ERCC6 | c.2839C>G (p.Arg947Gly) n.4242C>G c.2680C>G (p.Arg894Gly) c.*1135C>G (n.*1135C>G) c.949C>G (p.Arg317Gly) c.671C>G n.690-242G>C | |
10 | g.49472461G= | CA1908750312 | ERCC6 | c.2839C= (p.Arg947=) n.4242C= c.2680C= (p.Arg894=) c.*1135C= (n.*1135C=) c.949C= (p.Arg317=) c.671C= n.690-242G= | |
10 | g.49472461G>T | CA469600875 | ERCC6 | c.2839C>A (p.Arg947=) n.4242C>A c.2680C>A (p.Arg894=) c.*1135C>A (n.*1135C>A) c.949C>A (p.Arg317=) c.671C>A n.690-242G>T | |
10 | g.49472462C>A | CA376718702 | ERCC6 | c.2838G>T (p.Glu946Asp) n.4241G>T c.2679G>T (p.Glu893Asp) c.*1134G>T (n.*1134G>T) c.948G>T (p.Glu316Asp) c.670G>T n.690-241C>A | COSMIC |
10 | g.49472462C>G | CA376718705 | ERCC6 | c.2838G>C (p.Glu946Asp) n.4241G>C c.2679G>C (p.Glu893Asp) c.*1134G>C (n.*1134G>C) c.948G>C (p.Glu316Asp) c.670G>C n.690-241C>G | |
10 | g.49472462C>T | CA469600876 | ERCC6 | c.2838G>A (p.Glu946=) n.4241G>A c.2679G>A (p.Glu893=) c.*1134G>A (n.*1134G>A) c.948G>A (p.Glu316=) c.670G>A n.690-241C>T | gnomAD v4 |
10 | g.49472463T>A | CA376718712 | ERCC6 | c.2837A>T (p.Glu946Val) n.4240A>T c.2678A>T (p.Glu893Val) c.*1133A>T (n.*1133A>T) c.947A>T (p.Glu316Val) c.669A>T n.690-240T>A | |
10 | g.49472463T>C | CA376718715 | ERCC6 | c.2837A>G (p.Glu946Gly) n.4240A>G c.2678A>G (p.Glu893Gly) c.*1133A>G (n.*1133A>G) c.947A>G (p.Glu316Gly) c.669A>G n.690-240T>C | |
10 | g.49472463T>G | CA376718718 | ERCC6 | c.2837A>C (p.Glu946Ala) n.4240A>C c.2678A>C (p.Glu893Ala) c.*1133A>C (n.*1133A>C) c.947A>C (p.Glu316Ala) c.669A>C n.690-240T>G | |
10 | g.49472464C>A | CA376718721 | ERCC6 | c.2836G>T (p.Glu946Ter) n.4239G>T c.2677G>T (p.Glu893Ter) c.*1132G>T (n.*1132G>T) c.946G>T (p.Glu316Ter) c.668G>T n.690-239C>A | |
10 | g.49472464C>G | CA376718725 | ERCC6 | c.2836G>C (p.Glu946Gln) n.4239G>C c.2677G>C (p.Glu893Gln) c.*1132G>C (n.*1132G>C) c.946G>C (p.Glu316Gln) c.668G>C n.690-239C>G | gnomAD v4 |
10 | g.49472464C>T | CA376718727 | ERCC6 | c.2836G>A (p.Glu946Lys) n.4239G>A c.2677G>A (p.Glu893Lys) c.*1132G>A (n.*1132G>A) c.946G>A (p.Glu316Lys) c.668G>A n.690-239C>T | |
10 | g.49472465C>A | CA469600877 | ERCC6 | c.2835G>T (p.Arg945=) n.4238G>T c.2676G>T (p.Arg892=) c.*1131G>T (n.*1131G>T) c.945G>T (p.Arg315=) c.667G>T n.690-238C>A | |
10 | g.49472465C>G | CA469600878 | ERCC6 | c.2835G>C (p.Arg945=) n.4238G>C c.2676G>C (p.Arg892=) c.*1131G>C (n.*1131G>C) c.945G>C (p.Arg315=) c.667G>C n.690-238C>G | |
10 | g.49472465C>T | CA469600879 | ERCC6 | c.2835G>A (p.Arg945=) n.4238G>A c.2676G>A (p.Arg892=) c.*1131G>A (n.*1131G>A) c.945G>A (p.Arg315=) c.667G>A n.690-238C>T | |
10 | g.49472466C>A | CA376718732 | ERCC6 | c.2834G>T (p.Arg945Leu) n.4237G>T c.2675G>T (p.Arg892Leu) c.*1130G>T (n.*1130G>T) c.944G>T (p.Arg315Leu) c.666G>T n.690-237C>A | |
10 | g.49472466C= | CA1908750313 | ERCC6 | c.2834G= (p.Arg945=) n.4237G= c.2675G= (p.Arg892=) c.*1130G= (n.*1130G=) c.944G= (p.Arg315=) c.666G= n.690-237C= | |
10 | g.49472466C>G | CA376718735 | ERCC6 | c.2834G>C (p.Arg945Pro) n.4237G>C c.2675G>C (p.Arg892Pro) c.*1130G>C (n.*1130G>C) c.944G>C (p.Arg315Pro) c.666G>C n.690-237C>G | |
10 | g.49472466C>T | CA5495500 | ERCC6 | c.2834G>A (p.Arg945Gln) n.4237G>A c.2675G>A (p.Arg892Gln) c.*1130G>A (n.*1130G>A) c.944G>A (p.Arg315Gln) c.666G>A n.690-237C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.49472467G>A | CA5495501 | ERCC6 | c.2833C>T (p.Arg945Trp) n.4236C>T c.2674C>T (p.Arg892Trp) c.*1129C>T (n.*1129C>T) c.943C>T (p.Arg315Trp) c.665C>T n.690-236G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49472467G>C | CA376718739 | ERCC6 | c.2833C>G (p.Arg945Gly) n.4236C>G c.2674C>G (p.Arg892Gly) c.*1129C>G (n.*1129C>G) c.943C>G (p.Arg315Gly) c.665C>G n.690-236G>C | |
10 | g.49472467G= | CA1908750314 | ERCC6 | c.2833C= (p.Arg945=) n.4236C= c.2674C= (p.Arg892=) c.*1129C= (n.*1129C=) c.943C= (p.Arg315=) c.665C= n.690-236G= | |
10 | g.49472467G>T | CA469600880 | ERCC6 | c.2833C>A (p.Arg945=) n.4236C>A c.2674C>A (p.Arg892=) c.*1129C>A (n.*1129C>A) c.943C>A (p.Arg315=) c.665C>A n.690-236G>T | gnomAD v4 |
10 | g.49472468G>A | CA469600883 | ERCC6 | c.2832C>T (p.Ala944=) n.4235C>T c.2673C>T (p.Ala891=) c.*1128C>T (n.*1128C>T) c.942C>T (p.Ala314=) c.664C>T n.690-235G>A | ClinVar |
10 | g.49472468G>C | CA469600881 | ERCC6 | c.2832C>G (p.Ala944=) n.4235C>G c.2673C>G (p.Ala891=) c.*1128C>G (n.*1128C>G) c.942C>G (p.Ala314=) c.664C>G n.690-235G>C | |
10 | g.49472468G>T | CA469600882 | ERCC6 | c.2832C>A (p.Ala944=) n.4235C>A c.2673C>A (p.Ala891=) c.*1128C>A (n.*1128C>A) c.942C>A (p.Ala314=) c.664C>A n.690-235G>T | |
10 | g.49472469G>A | CA376718742 | ERCC6 | c.2831C>T (p.Ala944Val) n.4234C>T c.2672C>T (p.Ala891Val) c.*1127C>T (n.*1127C>T) c.941C>T (p.Ala314Val) c.663C>T n.690-234G>A | ClinVar |
10 | g.49472469G>C | CA376718743 | ERCC6 | c.2831C>G (p.Ala944Gly) n.4234C>G c.2672C>G (p.Ala891Gly) c.*1127C>G (n.*1127C>G) c.941C>G (p.Ala314Gly) c.663C>G n.690-234G>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49472469G= | CA1908750315 | ERCC6 | c.2831C= (p.Ala944=) n.4234C= c.2672C= (p.Ala891=) c.*1127C= (n.*1127C=) c.941C= (p.Ala314=) c.663C= n.690-234G= | |
10 | g.49472469G>T | CA376718744 | ERCC6 | c.2831C>A (p.Ala944Asp) n.4234C>A c.2672C>A (p.Ala891Asp) c.*1127C>A (n.*1127C>A) c.941C>A (p.Ala314Asp) c.663C>A n.690-234G>T | |
10 | g.49472470C>A | CA376718753 | ERCC6 | c.2830G>T (p.Ala944Ser) n.4233G>T c.2671G>T (p.Ala891Ser) c.*1126G>T (n.*1126G>T) c.940G>T (p.Ala314Ser) c.662G>T n.690-233C>A | |
10 | g.49472470C= | CA1908750316 | ERCC6 | c.2830G= (p.Ala944=) n.4233G= c.2671G= (p.Ala891=) c.*1126G= (n.*1126G=) c.940G= (p.Ala314=) c.662G= n.690-233C= | |
10 | g.49472470C>G | CA376718746 | ERCC6 | c.2830G>C (p.Ala944Pro) n.4233G>C c.2671G>C (p.Ala891Pro) c.*1126G>C (n.*1126G>C) c.940G>C (p.Ala314Pro) c.662G>C n.690-233C>G | |
10 | g.49472470C>T | CA376718751 | ERCC6 | c.2830G>A (p.Ala944Thr) n.4233G>A c.2671G>A (p.Ala891Thr) c.*1126G>A (n.*1126G>A) c.940G>A (p.Ala314Thr) c.662G>A n.690-233C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49472471C>A | CA376718754 | ERCC6 | c.2830-1G>T (n.2830-1G>T) n.4232G>T c.2671-1G>T (n.2671-1G>T) c.*1126-1G>T (n.*1126-1G>T) c.940-1G>T (n.940-1G>T) c.662-1G>T n.690-232C>A | |
10 | g.49472471C>G | CA376718757 | ERCC6 | c.2830-1G>C (n.2830-1G>C) n.4232G>C c.2671-1G>C (n.2671-1G>C) c.*1126-1G>C (n.*1126-1G>C) c.940-1G>C (n.940-1G>C) c.662-1G>C n.690-232C>G | |
10 | g.49472471C>T | CA376718759 | ERCC6 | c.2830-1G>A (n.2830-1G>A) n.4232G>A c.2671-1G>A (n.2671-1G>A) c.*1126-1G>A (n.*1126-1G>A) c.940-1G>A (n.940-1G>A) c.662-1G>A n.690-232C>T | |
10 | g.49472472T>A | CA376718762 | ERCC6 | c.2830-2A>T (n.2830-2A>T) n.4231A>T c.2671-2A>T (n.2671-2A>T) c.*1126-2A>T (n.*1126-2A>T) c.940-2A>T (n.940-2A>T) c.662-2A>T n.690-231T>A | |
10 | g.49472472T>C | CA274705 | ERCC6 | c.2830-2A>G (n.2830-2A>G) n.4231A>G c.2671-2A>G (n.2671-2A>G) c.*1126-2A>G (n.*1126-2A>G) c.940-2A>G (n.940-2A>G) c.662-2A>G n.690-231T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472472T>G | CA376718767 | ERCC6 | c.2830-2A>C (n.2830-2A>C) n.4231A>C c.2671-2A>C (n.2671-2A>C) c.*1126-2A>C (n.*1126-2A>C) c.940-2A>C (n.940-2A>C) c.662-2A>C n.690-231T>G | |
10 | g.49472472T= | CA1908750317 | ERCC6 | c.2830-2A= (n.2830-2A=) n.4231A= c.2671-2A= (n.2671-2A=) c.*1126-2A= (n.*1126-2A=) c.940-2A= (n.940-2A=) c.662-2A= n.690-231T= | |
10 | g.49472473G>C | CA5495502 | ERCC6 | c.2830-3C>G (n.2830-3C>G) n.4230C>G c.2671-3C>G (n.2671-3C>G) c.*1126-3C>G (n.*1126-3C>G) c.940-3C>G (n.940-3C>G) c.662-3C>G n.690-230G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472473G= | CA1908750318 | ERCC6 | c.2830-3C= (n.2830-3C=) n.4230C= c.2671-3C= (n.2671-3C=) c.*1126-3C= (n.*1126-3C=) c.940-3C= (n.940-3C=) c.662-3C= n.690-230G= | |
10 | g.49472474C>T | CA2609135024 | ERCC6 | c.2830-4G>A (n.2830-4G>A) n.4229G>A c.2671-4G>A (n.2671-4G>A) c.*1126-4G>A (n.*1126-4G>A) c.940-4G>A (n.940-4G>A) c.662-4G>A n.690-229C>T | gnomAD v4 |
10 | g.49472475A>G | CA2721826455 | ERCC6 | c.2830-5T>C (n.2830-5T>C) n.4228T>C c.2671-5T>C (n.2671-5T>C) c.*1126-5T>C (n.*1126-5T>C) c.940-5T>C (n.940-5T>C) c.662-5T>C n.690-228A>G | dbSNP |
10 | g.49472475_49472477delinsAAC | CA1908750319 | ERCC6 | c.2830-7_2830-5delinsGTT (n.2830-7_2830-5delinsGTT) n.4226_4228delinsGTT c.2671-7_2671-5delinsGTT (n.2671-7_2671-5delinsGTT) c.*1126-7_*1126-5delinsGTT (n.*1126-7_*1126-5delinsGTT) c.940-7_940-5delinsGTT (n.940-7_940-5delinsGTT) c.662-7_662-5delinsGTT n.690-228_690-226delinsAAC | |
10 | g.49472477_49472478del | CA5495503 | ERCC6 | c.2830-7_2830-6del (n.2830-7_2830-6del) n.4226_4227del c.2671-7_2671-6del (n.2671-7_2671-6del) c.*1126-7_*1126-6del (n.*1126-7_*1126-6del) c.940-7_940-6del (n.940-7_940-6del) c.662-7_662-6del n.690-226_690-225del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49472477C= | CA1908750321 | ERCC6 | c.2830-7G= (n.2830-7G=) n.4226G= c.2671-7G= (n.2671-7G=) c.*1126-7G= (n.*1126-7G=) c.940-7G= (n.940-7G=) c.662-7G= n.690-226C= | |
10 | g.49472477C>G | CA206586286 | ERCC6 | c.2830-7G>C (n.2830-7G>C) n.4226G>C c.2671-7G>C (n.2671-7G>C) c.*1126-7G>C (n.*1126-7G>C) c.940-7G>C (n.940-7G>C) c.662-7G>C n.690-226C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49472477_49472481delinsCAGAG | CA1908750320 | ERCC6 | c.2830-11_2830-7delinsCTCTG (n.2830-11_2830-7delinsCTCTG) n.4222_4226delinsCTCTG c.2671-11_2671-7delinsCTCTG (n.2671-11_2671-7delinsCTCTG) c.*1126-11_*1126-7delinsCTCTG (n.*1126-11_*1126-7delinsCTCTG) c.940-11_940-7delinsCTCTG (n.940-11_940-7delinsCTCTG) c.662-11_662-7delinsCTCTG n.690-226_690-222delinsCAGAG | |
10 | g.49472489_49472490dup | CA5495505 | ERCC6 | c.2830-9_2830-8dup (n.2830-9_2830-8dup) n.4224_4225dup c.2671-9_2671-8dup (n.2671-9_2671-8dup) c.*1126-9_*1126-8dup (n.*1126-9_*1126-8dup) c.940-9_940-8dup (n.940-9_940-8dup) c.662-9_662-8dup n.690-214_690-213dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472487_49472490dup | CA2609135043 | ERCC6 | c.2830-11_2830-8dup (n.2830-11_2830-8dup) n.4222_4225dup c.2671-11_2671-8dup (n.2671-11_2671-8dup) c.*1126-11_*1126-8dup (n.*1126-11_*1126-8dup) c.940-11_940-8dup (n.940-11_940-8dup) c.662-11_662-8dup n.690-216_690-213dup | gnomAD v4 |
10 | g.49472489_49472490del | CA5495504 | ERCC6 | c.2830-9_2830-8del (n.2830-9_2830-8del) n.4224_4225del c.2671-9_2671-8del (n.2671-9_2671-8del) c.*1126-9_*1126-8del (n.*1126-9_*1126-8del) c.940-9_940-8del (n.940-9_940-8del) c.662-9_662-8del n.690-214_690-213del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49472487_49472490del | CA593780570 | ERCC6 | c.2830-11_2830-8del (n.2830-11_2830-8del) n.4222_4225del c.2671-11_2671-8del (n.2671-11_2671-8del) c.*1126-11_*1126-8del (n.*1126-11_*1126-8del) c.940-11_940-8del (n.940-11_940-8del) c.662-11_662-8del n.690-216_690-213del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |