Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48362651_48362982del | CA645578623 | RB1 | c.719-164_861+25del c.458-164_600+25del | COSMIC COSMIC |
13 | g.48362856_48362862delinsCTGTTCCT | CA913189222 | RB1 | c.760_766delinsCTGTTCCT (p.Arg254LeufsTer17) c.*128_*134delinsCTGTTCCT (n.*128_*134delinsCTGTTCCT) c.499_505delinsCTGTTCCT (p.Arg167LeufsTer17) | |
13 | g.48362859C>A | CA483557865 | RB1 | c.763C>A (p.Arg255=) c.*131C>A (n.*131C>A) c.502C>A (p.Arg168=) | ClinVar dbSNP |
13 | g.48362859C= | CA2089981473 | RB1 | c.763C= (p.Arg255=) c.*131C= (n.*131C=) c.502C= (p.Arg168=) | |
13 | g.48362859C>G | CA388159356 | RB1 | c.763C>G (p.Arg255Gly) c.*131C>G (n.*131C>G) c.502C>G (p.Arg168Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48362859C>T | CA026466 | RB1 | c.763C>T (p.Arg255Ter) c.*131C>T (n.*131C>T) c.502C>T (p.Arg168Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48362860G>A | CA388159358 | RB1 | c.764G>A (p.Arg255Gln) c.*132G>A (n.*132G>A) c.503G>A (p.Arg168Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.48362860G>C | CA039468 | RB1 | c.764G>C (p.Arg255Pro) c.*132G>C (n.*132G>C) c.503G>C (p.Arg168Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48362860G= | CA2089981474 | RB1 | c.764G= (p.Arg255=) c.*132G= (n.*132G=) c.503G= (p.Arg168=) | |
13 | g.48362860G>T | CA388159359 | RB1 | c.764G>T (p.Arg255Leu) c.*132G>T (n.*132G>T) c.503G>T (p.Arg168Leu) | |
13 | g.48362861A>C | CA483557866 | RB1 | c.765A>C (p.Arg255=) c.*133A>C (n.*133A>C) c.504A>C (p.Arg168=) | |
13 | g.48362861A>G | CA483557867 | RB1 | c.765A>G (p.Arg255=) c.*133A>G (n.*133A>G) c.504A>G (p.Arg168=) | dbSNP |
13 | g.48362861A>T | CA483557868 | RB1 | c.765A>T (p.Arg255=) c.*133A>T (n.*133A>T) c.504A>T (p.Arg168=) | dbSNP |
13 | g.48362862G>A | CA388159361 | RB1 | c.766G>A (p.Gly256Ser) c.*134G>A (n.*134G>A) c.505G>A (p.Gly169Ser) | ClinVar dbSNP |
13 | g.48362862G>C | CA388159362 | RB1 | c.766G>C (p.Gly256Arg) c.*134G>C (n.*134G>C) c.505G>C (p.Gly169Arg) | dbSNP |
13 | g.48362862G= | CA2089981475 | RB1 | c.766G= (p.Gly256=) c.*134G= (n.*134G=) c.505G= (p.Gly169=) | |
13 | g.48362862G>T | CA388159364 | RB1 | c.766G>T (p.Gly256Cys) c.*134G>T (n.*134G>T) c.505G>T (p.Gly169Cys) | |
13 | g.48362863dup | CA2695218348 | RB1 | c.767dup (p.Gln257SerfsTer14) c.*135dup (n.*135dup) c.506dup (p.Gln170SerfsTer14) | |
13 | g.48362863del | CA2695218349 | RB1 | c.767del (p.Gly256ValfsTer8) c.*135del (n.*135del) c.506del (p.Gly169ValfsTer8) | |
13 | g.48362863G>A | CA388159365 | RB1 | c.767G>A (p.Gly256Asp) c.*135G>A (n.*135G>A) c.506G>A (p.Gly169Asp) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48362863G>C | CA039474 | RB1 | c.767G>C (p.Gly256Ala) c.*135G>C (n.*135G>C) c.506G>C (p.Gly169Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48362863G= | CA2089981476 | RB1 | c.767G= (p.Gly256=) c.*135G= (n.*135G=) c.506G= (p.Gly169=) | |
13 | g.48362863G>T | CA388159368 | RB1 | c.767G>T (p.Gly256Val) c.*135G>T (n.*135G>T) c.506G>T (p.Gly169Val) | |
13 | g.48362864T>A | CA483557869 | RB1 | c.768T>A (p.Gly256=) c.*136T>A (n.*136T>A) c.507T>A (p.Gly169=) | dbSNP |
13 | g.48362864T>C | CA483557870 | RB1 | c.768T>C (p.Gly256=) c.*136T>C (n.*136T>C) c.507T>C (p.Gly169=) | |
13 | g.48362864T>G | CA483557871 | RB1 | c.768T>G (p.Gly256=) c.*136T>G (n.*136T>G) c.507T>G (p.Gly169=) | dbSNP gnomAD v4 |
13 | g.48362864dup | CA2499222434 | RB1 | c.768dup (p.Gln257SerfsTer14) c.*136dup (n.*136dup) c.507dup (p.Gln170SerfsTer14) | ClinVar dbSNP |
13 | g.48362864_48362869delinsTCAGAA | CA2089981477 | RB1 | c.768_773delinsTCAGAA (p.Gly256=) c.*136_*141delinsTCAGAA (n.*136_*141delinsTCAGAA) c.507_512delinsTCAGAA (p.Gly169=) | |
13 | g.48362865C>A | CA388159369 | RB1 | c.769C>A (p.Gln257Lys) c.*137C>A (n.*137C>A) c.508C>A (p.Gln170Lys) | |
13 | g.48362865C>G | CA388159370 | RB1 | c.769C>G (p.Gln257Glu) c.*137C>G (n.*137C>G) c.508C>G (p.Gln170Glu) | dbSNP |
13 | g.48362865C>T | CA388159372 | RB1 | c.769C>T (p.Gln257Ter) c.*137C>T (n.*137C>T) c.508C>T (p.Gln170Ter) | dbSNP COSMIC COSMIC |
13 | g.48362868_48362872del | CA645578628 | RB1 | c.772_776del (p.Asn258GlufsTer11) c.*140_*144del (n.*140_*144del) c.511_515del (p.Asn171GlufsTer11) | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.48362866A= | CA2089981478 | RB1 | c.770A= (p.Gln257=) c.*138A= (n.*138A=) c.509A= (p.Gln170=) | |
13 | g.48362866A>C | CA388159374 | RB1 | c.770A>C (p.Gln257Pro) c.*138A>C (n.*138A>C) c.509A>C (p.Gln170Pro) | |
13 | g.48362866A>G | CA388159375 | RB1 | c.770A>G (p.Gln257Arg) c.*138A>G (n.*138A>G) c.509A>G (p.Gln170Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.48362866A>T | CA388159377 | RB1 | c.770A>T (p.Gln257Leu) c.*138A>T (n.*138A>T) c.509A>T (p.Gln170Leu) | dbSNP |
13 | g.48362867_48362868dup | CA2695218353 | RB1 | c.771_772dup (p.Asn258ArgfsTer7) c.*139_*140dup (n.*139_*140dup) c.510_511dup (p.Asn171ArgfsTer7) | |
13 | g.48362867_48362868del | CA2695218352 | RB1 | c.771_772del (p.Asn258GlnfsTer12) c.*139_*140del (n.*139_*140del) c.510_511del (p.Asn171GlnfsTer12) | ClinVar |
13 | g.48362867G>A | CA483557872 | RB1 | c.771G>A (p.Gln257=) c.*139G>A (n.*139G>A) c.510G>A (p.Gln170=) | dbSNP |
13 | g.48362867G>C | CA388159381 | RB1 | c.771G>C (p.Gln257His) c.*139G>C (n.*139G>C) c.510G>C (p.Gln170His) | dbSNP |
13 | g.48362867G>T | CA388159379 | RB1 | c.771G>T (p.Gln257His) c.*139G>T (n.*139G>T) c.510G>T (p.Gln170His) | |
13 | g.48362868A>C | CA388159382 | RB1 | c.772A>C (p.Asn258His) c.*140A>C (n.*140A>C) c.511A>C (p.Asn171His) | |
13 | g.48362868A>G | CA388159384 | RB1 | c.772A>G (p.Asn258Asp) c.*140A>G (n.*140A>G) c.511A>G (p.Asn171Asp) | ClinVar |
13 | g.48362868A>T | CA388159385 | RB1 | c.772A>T (p.Asn258Tyr) c.*140A>T (n.*140A>T) c.511A>T (p.Asn171Tyr) | |
13 | g.48362869del | CA483557873 | RB1 | c.773del (p.Asn258ThrfsTer6) c.*141del (n.*141del) c.512del (p.Asn171ThrfsTer6) | COSMIC |
13 | g.48362869A= | CA2089981479 | RB1 | c.773A= (p.Asn258=) c.*141A= (n.*141A=) c.512A= (p.Asn171=) | |
13 | g.48362869A>C | CA388159387 | RB1 | c.773A>C (p.Asn258Thr) c.*141A>C (n.*141A>C) c.512A>C (p.Asn171Thr) | |
13 | g.48362869A>G | CA388159389 | RB1 | c.773A>G (p.Asn258Ser) c.*141A>G (n.*141A>G) c.512A>G (p.Asn171Ser) | ClinVar dbSNP |
13 | g.48362869A>T | CA388159390 | RB1 | c.773A>T (p.Asn258Ile) c.*141A>T (n.*141A>T) c.512A>T (p.Asn171Ile) | |
13 | g.48362870C>A | CA388159391 | RB1 | c.774C>A (p.Asn258Lys) c.*142C>A (n.*142C>A) c.513C>A (p.Asn171Lys) |