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.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 |
13 | g.48380228G>C | CA388162898 | RB1 | c.1485G>C (p.Met495Ile) c.1224G>C (p.Met408Ile) | dbSNP |
13 | g.48380228G>T | CA388162899 | RB1 | c.1485G>T (p.Met495Ile) c.1224G>T (p.Met408Ile) | |
13 | g.48380229G>A | CA388162900 | RB1 | c.1486G>A (p.Ala496Thr) c.1225G>A (p.Ala409Thr) | COSMIC COSMIC |
13 | g.48380229G>C | CA388162901 | RB1 | c.1486G>C (p.Ala496Pro) c.1225G>C (p.Ala409Pro) | ClinVar gnomAD v4 |
13 | g.48380229G= | CA2089971395 | RB1 | c.1486G= (p.Ala496=) c.1225G= (p.Ala409=) | |
13 | g.48380229G>T | CA388162902 | RB1 | c.1486G>T (p.Ala496Ser) c.1225G>T (p.Ala409Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48380229_48380232delinsTAAT | CA2695218479 | RB1 | c.1486_1489delinsTAAT (p.Ala496Ter) c.1225_1228delinsTAAT (p.Ala409Ter) | |
13 | g.48380229_48380241delinsTAAT | CA2695218480 | RB1 | c.1486_1498delinsTAAT (p.Ala496Ter) c.1225_1237delinsTAAT (p.Ala409Ter) | |
13 | g.48380230C>A | CA388162903 | RB1 | c.1487C>A (p.Ala496Asp) c.1226C>A (p.Ala409Asp) | dbSNP gnomAD v4 |
13 | g.48380230C= | CA2089971398 | RB1 | c.1487C= (p.Ala496=) c.1226C= (p.Ala409=) | |
13 | g.48380230C>G | CA028910 | RB1 | c.1487C>G (p.Ala496Gly) c.1226C>G (p.Ala409Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48380230C>T | CA388162904 | RB1 | c.1487C>T (p.Ala496Val) c.1226C>T (p.Ala409Val) | dbSNP gnomAD v4 |
13 | g.48380231del | CA2575413511 | RB1 | c.1488del (p.Thr497HisfsTer22) c.1227del (p.Thr410HisfsTer22) | gnomAD v4 |
13 | g.48380231C>A | CA483559309 | RB1 | c.1488C>A (p.Ala496=) c.1227C>A (p.Ala409=) | dbSNP gnomAD v4 |
13 | g.48380231C>G | CA483559310 | RB1 | c.1488C>G (p.Ala496=) c.1227C>G (p.Ala409=) | dbSNP |
13 | g.48380231C>T | CA483559311 | RB1 | c.1488C>T (p.Ala496=) c.1227C>T (p.Ala409=) | |
13 | g.48380233_48380234del | CA2695218481 | RB1 | c.1490_1491del (p.Thr497IlefsTer2) c.1229_1230del (p.Thr410IlefsTer2) | |
13 | g.48380232A= | CA2089971405 | RB1 | c.1489A= (p.Thr497=) c.1228A= (p.Thr410=) | |
13 | g.48380232A>C | CA388162905 | RB1 | c.1489A>C (p.Thr497Pro) c.1228A>C (p.Thr410Pro) | dbSNP |
13 | g.48380232A>G | CA028922 | RB1 | c.1489A>G (p.Thr497Ala) c.1228A>G (p.Thr410Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48380232A>T | CA388162906 | RB1 | c.1489A>T (p.Thr497Ser) c.1228A>T (p.Thr410Ser) | dbSNP |
13 | g.48380233C>A | CA388162907 | RB1 | c.1490C>A (p.Thr497Lys) c.1229C>A (p.Thr410Lys) | |
13 | g.48380233C= | CA2089971412 | RB1 | c.1490C= (p.Thr497=) c.1229C= (p.Thr410=) | |
13 | g.48380233C>G | CA388162909 | RB1 | c.1490C>G (p.Thr497Arg) c.1229C>G (p.Thr410Arg) | dbSNP |
13 | g.48380233C>T | CA388162908 | RB1 | c.1490C>T (p.Thr497Ile) c.1229C>T (p.Thr410Ile) | dbSNP |
13 | g.48380234A= | CA2089971419 | RB1 | c.1491A= (p.Thr497=) c.1230A= (p.Thr410=) | |
13 | g.48380234A>C | CA483559314 | RB1 | c.1491A>C (p.Thr497=) c.1230A>C (p.Thr410=) | dbSNP |
13 | g.48380234A>G | CA483559316 | RB1 | c.1491A>G (p.Thr497=) c.1230A>G (p.Thr410=) | gnomAD v4 |
13 | g.48380234A>T | CA028926 | RB1 | c.1491A>T (p.Thr497=) c.1230A>T (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |