| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48380139_48380245del | CA2695218464 | RB1 | c.1422-26_1498+4del c.1161-26_1237+4del | |
| 13 | g.48380215T>A | CA388162872 | RB1 | c.1472T>A (p.Leu491His) c.1211T>A (p.Leu404His) | ClinVar dbSNP |
| 13 | g.48380215T>C | CA026379 | RB1 | c.1472T>C (p.Leu491Pro) c.1211T>C (p.Leu404Pro) | ClinVar dbSNP |
| 13 | g.48380215T>G | CA388162873 | RB1 | c.1472T>G (p.Leu491Arg) c.1211T>G (p.Leu404Arg) | |
| 13 | g.48380215T= | CA2089971366 | RB1 | c.1472T= (p.Leu491=) c.1211T= (p.Leu404=) | |
| 13 | g.48380216del | CA2622981344 | RB1 | c.1473del (p.Glu492ArgfsTer3) c.1212del (p.Glu405ArgfsTer3) | gnomAD v4 |
| 13 | g.48380216T>A | CA483559293 | RB1 | c.1473T>A (p.Leu491=) c.1212T>A (p.Leu404=) | dbSNP |
| 13 | g.48380216T>C | CA483559294 | RB1 | c.1473T>C (p.Leu491=) c.1212T>C (p.Leu404=) | dbSNP |
| 13 | g.48380216T>G | CA483559295 | RB1 | c.1473T>G (p.Leu491=) c.1212T>G (p.Leu404=) | dbSNP |
| 13 | g.48380217G>A | CA16614015 | RB1 | c.1474G>A (p.Glu492Lys) c.1213G>A (p.Glu405Lys) | ClinVar dbSNP |
| 13 | g.48380217G>C | CA388162874 | RB1 | c.1474G>C (p.Glu492Gln) c.1213G>C (p.Glu405Gln) | dbSNP COSMIC |
| 13 | g.48380217G= | CA2089971375 | RB1 | c.1474G= (p.Glu492=) c.1213G= (p.Glu405=) | |
| 13 | g.48380217G>T | CA388162875 | RB1 | c.1474G>T (p.Glu492Ter) c.1213G>T (p.Glu405Ter) | dbSNP |
| 13 | g.48380218A= | CA2089971378 | RB1 | c.1475A= (p.Glu492=) c.1214A= (p.Glu405=) | |
| 13 | g.48380218A>C | CA388162876 | RB1 | c.1475A>C (p.Glu492Ala) c.1214A>C (p.Glu405Ala) | |
| 13 | g.48380218A>G | CA388162877 | RB1 | c.1475A>G (p.Glu492Gly) c.1214A>G (p.Glu405Gly) | |
| 13 | g.48380218A>T | CA028885 | RB1 | c.1475A>T (p.Glu492Val) c.1214A>T (p.Glu405Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48380219G>A | CA483559296 | RB1 | c.1476G>A (p.Glu492=) c.1215G>A (p.Glu405=) | dbSNP |
| 13 | g.48380219G>C | CA388162878 | RB1 | c.1476G>C (p.Glu492Asp) c.1215G>C (p.Glu405Asp) | |
| 13 | g.48380219G>T | CA388162879 | RB1 | c.1476G>T (p.Glu492Asp) c.1215G>T (p.Glu405Asp) | dbSNP |
| 13 | g.48380220G>A | CA388162880 | RB1 | c.1477G>A (p.Val493Ile) c.1216G>A (p.Val406Ile) | dbSNP |
| 13 | g.48380220G>C | CA388162881 | RB1 | c.1477G>C (p.Val493Leu) c.1216G>C (p.Val406Leu) | dbSNP |
| 13 | g.48380220G>T | CA388162882 | RB1 | c.1477G>T (p.Val493Phe) c.1216G>T (p.Val406Phe) | gnomAD v4 |
| 13 | g.48380221T>A | CA388162883 | RB1 | c.1478T>A (p.Val493Asp) c.1217T>A (p.Val406Asp) | dbSNP |
| 13 | g.48380221T>C | CA388162884 | RB1 | c.1478T>C (p.Val493Ala) c.1217T>C (p.Val406Ala) | dbSNP |
| 13 | g.48380221T>G | CA388162885 | RB1 | c.1478T>G (p.Val493Gly) c.1217T>G (p.Val406Gly) | dbSNP |
| 13 | g.48380222T>A | CA483559298 | RB1 | c.1479T>A (p.Val493=) c.1218T>A (p.Val406=) | dbSNP |
| 13 | g.48380222T>C | CA028896 | RB1 | c.1479T>C (p.Val493=) c.1218T>C (p.Val406=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48380222T>G | CA483559297 | RB1 | c.1479T>G (p.Val493=) c.1218T>G (p.Val406=) | |
| 13 | g.48380222T= | CA2089971381 | RB1 | c.1479T= (p.Val493=) c.1218T= (p.Val406=) | |
| 13 | g.48380223G>A | CA388162886 | RB1 | c.1480G>A (p.Val494Ile) c.1219G>A (p.Val407Ile) | dbSNP |
| 13 | g.48380223G>C | CA388162887 | RB1 | c.1480G>C (p.Val494Leu) c.1219G>C (p.Val407Leu) | dbSNP |
| 13 | g.48380223G= | CA2089971387 | RB1 | c.1480G= (p.Val494=) c.1219G= (p.Val407=) | |
| 13 | g.48380223G>T | CA388162888 | RB1 | c.1480G>T (p.Val494Leu) c.1219G>T (p.Val407Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48380224T>A | CA388162891 | RB1 | c.1481T>A (p.Val494Glu) c.1220T>A (p.Val407Glu) | |
| 13 | g.48380224T>C | CA388162890 | RB1 | c.1481T>C (p.Val494Ala) c.1220T>C (p.Val407Ala) | gnomAD v4 |
| 13 | g.48380224T>G | CA388162889 | RB1 | c.1481T>G (p.Val494Gly) c.1220T>G (p.Val407Gly) | |
| 13 | g.48380225A>C | CA483559301 | RB1 | c.1482A>C (p.Val494=) c.1221A>C (p.Val407=) | gnomAD v4 |
| 13 | g.48380225A>G | CA483559302 | RB1 | c.1482A>G (p.Val494=) c.1221A>G (p.Val407=) | ClinVar dbSNP |
| 13 | g.48380225A>T | CA483559303 | RB1 | c.1482A>T (p.Val494=) c.1221A>T (p.Val407=) | dbSNP |
| 13 | g.48380226del | CA2575413510 | RB1 | c.1483del (p.Met495TrpfsTer24) c.1222del (p.Met408TrpfsTer24) | |
| 13 | g.48380226A= | CA2089971390 | RB1 | c.1483A= (p.Met495=) c.1222A= (p.Met408=) | |
| 13 | g.48380226A>C | CA388162892 | RB1 | c.1483A>C (p.Met495Leu) c.1222A>C (p.Met408Leu) | |
| 13 | g.48380226A>G | CA388162893 | RB1 | c.1483A>G (p.Met495Val) c.1222A>G (p.Met408Val) | dbSNP gnomAD v4 |
| 13 | g.48380226A>T | CA028904 | RB1 | c.1483A>T (p.Met495Leu) c.1222A>T (p.Met408Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48380228_48380237del | CA2695218478 | RB1 | c.1485_1494del (p.Met495IlefsTer21) c.1224_1233del (p.Met408IlefsTer21) | |
| 13 | g.48380227T>A | CA388162894 | RB1 | c.1484T>A (p.Met495Lys) c.1223T>A (p.Met408Lys) | dbSNP gnomAD v4 |
| 13 | g.48380227T>C | CA388162895 | RB1 | c.1484T>C (p.Met495Thr) c.1223T>C (p.Met408Thr) | |
| 13 | g.48380227T>G | CA388162896 | RB1 | c.1484T>G (p.Met495Arg) c.1223T>G (p.Met408Arg) | dbSNP gnomAD v4 |
| 13 | g.48380228G>A | CA388162897 | RB1 | c.1485G>A (p.Met495Ile) c.1224G>A (p.Met408Ile) | dbSNP gnomAD v4 |