| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48457665_48462964del | CA2695199742 | RB1 | c.1960+1316_2107-767del c.194+76222_194+81521del c.1699+1316_1846-767del | ClinVar |
| 13 | g.48459395_48459714del | CA2580087596 | RB1 | c.1961-293_1987del c.194+77952_194+78271del c.1700-293_1726del | ClinVar |
| 13 | g.48459671_48459692del | CA2697551906 | RB1 | c.1961-17_1965del c.194+78228_194+78249del c.1700-17_1704del | ClinVar |
| 13 | g.48459687del | CA483558965 | RB1 | c.1961-1del (n.1961-1del) c.194+78244del c.1700-1del (n.1700-1del) | COSMIC COSMIC |
| 13 | g.48459687G>A | CA388166669 | RB1 | c.1961-1G>A (n.1961-1G>A) c.194+78244G>A c.1700-1G>A (n.1700-1G>A) | dbSNP COSMIC COSMIC |
| 13 | g.48459687G>C | CA388166670 | RB1 | c.1961-1G>C (n.1961-1G>C) c.194+78244G>C c.1700-1G>C (n.1700-1G>C) | dbSNP |
| 13 | g.48459687G= | CA2090019516 | RB1 | c.1961-1G= (n.1961-1G=) c.194+78244G= c.1700-1G= (n.1700-1G=) | |
| 13 | g.48459687G>T | CA388166671 | RB1 | c.1961-1G>T (n.1961-1G>T) c.194+78244G>T c.1700-1G>T (n.1700-1G>T) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48459688T>A | CA388166672 | RB1 | c.1961T>A (p.Val654Glu) c.194+78245T>A c.1700T>A (p.Val567Glu) | ClinVar dbSNP |
| 13 | g.48459688T>C | CA033353 | RB1 | c.1961T>C (p.Val654Ala) c.194+78245T>C c.1700T>C (p.Val567Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48459688T>G | CA388166673 | RB1 | c.1961T>G (p.Val654Gly) c.194+78245T>G c.1700T>G (p.Val567Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48459688T= | CA2090019525 | RB1 | c.1961T= (p.Val654=) c.194+78245T= c.1700T= (p.Val567=) | |
| 13 | g.48459688_48459833del | CA1139532148 | RB1 | c.1961_2106del (p.Val654AspfsTer18) c.194+78245_194+78390del c.1700_1845del (p.Val567AspfsTer18) | |
| 13 | g.48459689G>A | CA483558967 | RB1 | c.1962G>A (p.Val654=) c.194+78246G>A c.1701G>A (p.Val567=) | ClinVar |
| 13 | g.48459689G>C | CA483558968 | RB1 | c.1962G>C (p.Val654=) c.194+78246G>C c.1701G>C (p.Val567=) | |
| 13 | g.48459689G>T | CA483558969 | RB1 | c.1962G>T (p.Val654=) c.194+78246G>T c.1701G>T (p.Val567=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.48459690T>A | CA388166674 | RB1 | c.1963T>A (p.Tyr655Asn) c.194+78247T>A c.1702T>A (p.Tyr568Asn) | dbSNP |
| 13 | g.48459690T>C | CA388166675 | RB1 | c.1963T>C (p.Tyr655His) c.194+78247T>C c.1702T>C (p.Tyr568His) | ClinVar dbSNP |
| 13 | g.48459690T>G | CA388166676 | RB1 | c.1963T>G (p.Tyr655Asp) c.194+78247T>G c.1702T>G (p.Tyr568Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459690_48459691insCCT | CA645571609 | RB1 | c.1963_1964insCCT (p.Val654_Tyr655insSer) c.194+78247_194+78248insCCT c.1702_1703insCCT (p.Val567_Tyr568insSer) | COSMIC COSMIC |
| 13 | g.48459690dup | CA2573149589 | RB1 | c.1963dup (p.Tyr655LeufsTer13) c.194+78247dup c.1702dup (p.Tyr568LeufsTer13) | ClinVar dbSNP |
| 13 | g.48459690_48459692del | CA2695218610 | RB1 | c.1963_1965del (p.Tyr655del) c.194+78247_194+78249del c.1702_1704del (p.Tyr568del) | |
| 13 | g.48459690_48459691insTA | CA645571610 | RB1 | c.1963_1964insTA (p.Tyr655LeufsTer4) c.194+78247_194+78248insTA c.1702_1703insTA (p.Tyr568LeufsTer4) | COSMIC COSMIC |
| 13 | g.48459691A= | CA2090019538 | RB1 | c.1964A= (p.Tyr655=) c.194+78248A= c.1703A= (p.Tyr568=) | |
| 13 | g.48459691A>C | CA388166678 | RB1 | c.1964A>C (p.Tyr655Ser) c.194+78248A>C c.1703A>C (p.Tyr568Ser) | |
| 13 | g.48459691A>G | CA388166677 | RB1 | c.1964A>G (p.Tyr655Cys) c.194+78248A>G c.1703A>G (p.Tyr568Cys) | ClinVar dbSNP |
| 13 | g.48459691A>T | CA033367 | RB1 | c.1964A>T (p.Tyr655Phe) c.194+78248A>T c.1703A>T (p.Tyr568Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48459691_48459692insCCT | CA645571611 | RB1 | c.1964_1965insCCT (p.Tyr655_Arg656insLeu) c.194+78248_194+78249insCCT c.1703_1704insCCT (p.Tyr568_Arg569insLeu) | COSMIC COSMIC |
| 13 | g.48459692del | CA2695218613 | RB1 | c.1965del (p.Arg656GlyfsTer2) c.194+78249del c.1704del (p.Arg569GlyfsTer2) | |
| 13 | g.48459692T>A | CA388166679 | RB1 | c.1965T>A (p.Tyr655Ter) c.194+78249T>A c.1704T>A (p.Tyr568Ter) | |
| 13 | g.48459692T>C | CA483558970 | RB1 | c.1965T>C (p.Tyr655=) c.194+78249T>C c.1704T>C (p.Tyr568=) | |
| 13 | g.48459692T>G | CA388166680 | RB1 | c.1965T>G (p.Tyr655Ter) c.194+78249T>G c.1704T>G (p.Tyr568Ter) | |
| 13 | g.48459692_48459707delinsTCGGCTAGCCTATCTC | CA2090019547 | RB1 | c.1965_1980delinsTCGGCTAGCCTATCTC (p.Tyr655=) c.194+78249_194+78264delinsTCGGCTAGCCTATCTC c.1704_1719delinsTCGGCTAGCCTATCTC (p.Tyr568=) | |
| 13 | g.48459693C>A | CA483558971 | RB1 | c.1966C>A (p.Arg656=) c.194+78250C>A c.1705C>A (p.Arg569=) | dbSNP gnomAD v4 |
| 13 | g.48459693C= | CA2090019550 | RB1 | c.1966C= (p.Arg656=) c.194+78250C= c.1705C= (p.Arg569=) | |
| 13 | g.48459693C>G | CA388166681 | RB1 | c.1966C>G (p.Arg656Gly) c.194+78250C>G c.1705C>G (p.Arg569Gly) | dbSNP |
| 13 | g.48459693C>T | CA026415 | RB1 | c.1966C>T (p.Arg656Trp) c.194+78250C>T c.1705C>T (p.Arg569Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.48459699_48459713del | CA609584610 | RB1 | c.1972_1986del (p.Ala658_Leu662del) c.194+78256_194+78270del c.1711_1725del (p.Ala571_Leu575del) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48459693_48459694insAT | CA2695218615 | RB1 | c.1966_1967insAT (p.Arg656HisfsTer3) c.194+78250_194+78251insAT c.1705_1706insAT (p.Arg569HisfsTer3) | |
| 13 | g.48459694G>A | CA033414 | RB1 | c.1967G>A (p.Arg656Gln) c.194+78251G>A c.1706G>A (p.Arg569Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48459694G>C | CA388166682 | RB1 | c.1967G>C (p.Arg656Pro) c.194+78251G>C c.1706G>C (p.Arg569Pro) | dbSNP |
| 13 | g.48459694G= | CA2090019560 | RB1 | c.1967G= (p.Arg656=) c.194+78251G= c.1706G= (p.Arg569=) | |
| 13 | g.48459694G>T | CA388166683 | RB1 | c.1967G>T (p.Arg656Leu) c.194+78251G>T c.1706G>T (p.Arg569Leu) | |
| 13 | g.48459695dup | CA2695218616 | RB1 | c.1968dup (p.Leu657AlafsTer11) c.194+78252dup c.1707dup (p.Leu570AlafsTer11) | |
| 13 | g.48459695G>A | CA483558972 | RB1 | c.1968G>A (p.Arg656=) c.194+78252G>A c.1707G>A (p.Arg569=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48459695G>C | CA483558973 | RB1 | c.1968G>C (p.Arg656=) c.194+78252G>C c.1707G>C (p.Arg569=) | dbSNP |
| 13 | g.48459695G>T | CA483558974 | RB1 | c.1968G>T (p.Arg656=) c.194+78252G>T c.1707G>T (p.Arg569=) | |
| 13 | g.48459695_48459696del | CA2695218619 | RB1 | c.1968_1969del (p.Leu657SerfsTer10) c.194+78252_194+78253del c.1707_1708del (p.Leu570SerfsTer10) | |
| 13 | g.48459696C>A | CA388166684 | RB1 | c.1969C>A (p.Leu657Ile) c.194+78253C>A c.1708C>A (p.Leu570Ile) | gnomAD v4 |
| 13 | g.48459696C>G | CA388166685 | RB1 | c.1969C>G (p.Leu657Val) c.194+78253C>G c.1708C>G (p.Leu570Val) | dbSNP |