Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48380096_48380199del | CA2573149609 | RB1 | c.1421+12_1456del c.1160+12_1195del | ClinVar dbSNP |
13 | g.48380139_48380245del | CA2695218464 | RB1 | c.1422-26_1498+4del c.1161-26_1237+4del | |
13 | g.48380193_48380202del | CA2580087597 | RB1 | c.1450_1459del (p.Met484TrpfsTer8) c.1189_1198del (p.Met397TrpfsTer8) | ClinVar |
13 | g.48380195_48380199delinsGTCTT | CA2089971257 | RB1 | c.1452_1456delinsGTCTT (p.Met484=) c.1191_1195delinsGTCTT (p.Met397=) | |
13 | g.48380197_48380200del | CA916081693 | RB1 | c.1454_1457del (p.Ser485TyrfsTer9) c.1193_1196del (p.Ser398TyrfsTer9) | ClinVar dbSNP |
13 | g.48380197_48380199delinsCTT | CA2089971269 | RB1 | c.1454_1456delinsCTT (p.Ser485=) c.1193_1195delinsCTT (p.Ser398=) | |
13 | g.48380199_48380200del | CA026378 | RB1 | c.1456_1457del (p.Leu486IlefsTer6) c.1195_1196del (p.Leu399IlefsTer6) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.48380200_48380203del | CA2695218475 | RB1 | c.1457_1460del (p.Leu486TrpfsTer8) c.1196_1199del (p.Leu399TrpfsTer8) | |
13 | g.48380199T>A | CA388162838 | RB1 | c.1456T>A (p.Leu486Ile) c.1195T>A (p.Leu399Ile) | |
13 | g.48380199T>C | CA483559283 | RB1 | c.1456T>C (p.Leu486=) c.1195T>C (p.Leu399=) | dbSNP gnomAD v4 |
13 | g.48380199T>G | CA388162839 | RB1 | c.1456T>G (p.Leu486Val) c.1195T>G (p.Leu399Val) | |
13 | g.48380200T>A | CA388162840 | RB1 | c.1457T>A (p.Leu486Ter) c.1196T>A (p.Leu399Ter) | gnomAD v4 |
13 | g.48380200T>C | CA388162841 | RB1 | c.1457T>C (p.Leu486Ser) c.1196T>C (p.Leu399Ser) | |
13 | g.48380200T>G | CA388162842 | RB1 | c.1457T>G (p.Leu486Ter) c.1196T>G (p.Leu399Ter) | |
13 | g.48380200_48380201delinsTA | CA2089971287 | RB1 | c.1457_1458delinsTA (p.Leu486=) c.1196_1197delinsTA (p.Leu399=) | |
13 | g.48380201del | CA658656368 | RB1 | c.1458del (p.Leu486PhefsTer9) c.1197del (p.Leu399PhefsTer9) | ClinVar dbSNP |
13 | g.48380201A>C | CA388162843 | RB1 | c.1458A>C (p.Leu486Phe) c.1197A>C (p.Leu399Phe) | |
13 | g.48380201A>G | CA483559284 | RB1 | c.1458A>G (p.Leu486=) c.1197A>G (p.Leu399=) | dbSNP |
13 | g.48380201A>T | CA388162844 | RB1 | c.1458A>T (p.Leu486Phe) c.1197A>T (p.Leu399Phe) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.48380202T>A | CA388162845 | RB1 | c.1459T>A (p.Leu487Met) c.1198T>A (p.Leu400Met) | dbSNP |
13 | g.48380202T>C | CA483559285 | RB1 | c.1459T>C (p.Leu487=) c.1198T>C (p.Leu400=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48380202T>G | CA388162846 | RB1 | c.1459T>G (p.Leu487Val) c.1198T>G (p.Leu400Val) | |
13 | g.48380202T= | CA2089971298 | RB1 | c.1459T= (p.Leu487=) c.1198T= (p.Leu400=) | |
13 | g.48380203T>A | CA388162847 | RB1 | c.1460T>A (p.Leu487Ter) c.1199T>A (p.Leu400Ter) | dbSNP |
13 | g.48380203T>C | CA388162848 | RB1 | c.1460T>C (p.Leu487Ser) c.1199T>C (p.Leu400Ser) | |
13 | g.48380203T>G | CA388162849 | RB1 | c.1460T>G (p.Leu487Trp) c.1199T>G (p.Leu400Trp) | |
13 | g.48380204G>A | CA483559286 | RB1 | c.1461G>A (p.Leu487=) c.1200G>A (p.Leu400=) | dbSNP |
13 | g.48380204G>C | CA388162851 | RB1 | c.1461G>C (p.Leu487Phe) c.1200G>C (p.Leu400Phe) | dbSNP |
13 | g.48380204G= | CA2089971301 | RB1 | c.1461G= (p.Leu487=) c.1200G= (p.Leu400=) | |
13 | g.48380204G>T | CA388162850 | RB1 | c.1461G>T (p.Leu487Phe) c.1200G>T (p.Leu400Phe) | dbSNP gnomAD v4 |
13 | g.48380205G>A | CA388162852 | RB1 | c.1462G>A (p.Ala488Thr) c.1201G>A (p.Ala401Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.48380205G>C | CA388162853 | RB1 | c.1462G>C (p.Ala488Pro) c.1201G>C (p.Ala401Pro) | dbSNP |
13 | g.48380205G>T | CA388162854 | RB1 | c.1462G>T (p.Ala488Ser) c.1201G>T (p.Ala401Ser) | dbSNP |
13 | g.48380206C>A | CA388162855 | RB1 | c.1463C>A (p.Ala488Glu) c.1202C>A (p.Ala401Glu) | dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.48380206C= | CA2089971310 | RB1 | c.1463C= (p.Ala488=) c.1202C= (p.Ala401=) | |
13 | g.48380206C>G | CA388162856 | RB1 | c.1463C>G (p.Ala488Gly) c.1202C>G (p.Ala401Gly) | dbSNP |
13 | g.48380206C>T | CA028837 | RB1 | c.1463C>T (p.Ala488Val) c.1202C>T (p.Ala401Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.48380207G>A | CA028848 | RB1 | c.1464G>A (p.Ala488=) c.1203G>A (p.Ala401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48380207G>C | CA483559287 | RB1 | c.1464G>C (p.Ala488=) c.1203G>C (p.Ala401=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48380207G= | CA2089971318 | RB1 | c.1464G= (p.Ala488=) c.1203G= (p.Ala401=) | |
13 | g.48380207G>T | CA483559288 | RB1 | c.1464G>T (p.Ala488=) c.1203G>T (p.Ala401=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48380208T>A | CA388162859 | RB1 | c.1465T>A (p.Cys489Ser) c.1204T>A (p.Cys402Ser) | dbSNP |
13 | g.48380208T>C | CA388162857 | RB1 | c.1465T>C (p.Cys489Arg) c.1204T>C (p.Cys402Arg) | dbSNP |
13 | g.48380208T>G | CA388162858 | RB1 | c.1465T>G (p.Cys489Gly) c.1204T>G (p.Cys402Gly) | ClinVar dbSNP |
13 | g.48380208T= | CA2089971323 | RB1 | c.1465T= (p.Cys489=) c.1204T= (p.Cys402=) | |
13 | g.48380209G>A | CA388162860 | RB1 | c.1466G>A (p.Cys489Tyr) c.1205G>A (p.Cys402Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.48380209G>C | CA388162861 | RB1 | c.1466G>C (p.Cys489Ser) c.1205G>C (p.Cys402Ser) | dbSNP gnomAD v4 |
13 | g.48380209G= | CA2089971328 | RB1 | c.1466G= (p.Cys489=) c.1205G= (p.Cys402=) | |
13 | g.48380209G>T | CA388162862 | RB1 | c.1466G>T (p.Cys489Phe) c.1205G>T (p.Cys402Phe) | dbSNP |
13 | g.48380211_48380212del | CA2695218476 | RB1 | c.1468_1469del (p.Ala490SerfsTer2) c.1207_1208del (p.Ala403SerfsTer2) |