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.48459688_48459833del | CA1139532148 | RB1 | c.1961_2106del (p.Val654AspfsTer18) c.194+78245_194+78390del c.1700_1845del (p.Val567AspfsTer18) | |
13 | g.48459692_48459707delinsTCGGCTAGCCTATCTC | CA2090019547 | RB1 | c.1965_1980delinsTCGGCTAGCCTATCTC (p.Tyr655=) c.194+78249_194+78264delinsTCGGCTAGCCTATCTC c.1704_1719delinsTCGGCTAGCCTATCTC (p.Tyr568=) | |
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.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 |
13 | g.48459696C>T | CA483558975 | RB1 | c.1969C>T (p.Leu657=) c.194+78253C>T c.1708C>T (p.Leu570=) | dbSNP |
13 | g.48459696_48459708delinsT | CA2695218621 | RB1 | c.1969_1981delinsT (p.Leu657_Arg661delinsTrp) c.194+78253_194+78265delinsT c.1708_1720delinsT (p.Leu570_Arg574delinsTrp) | |
13 | g.48459697T>A | CA033440 | RB1 | c.1970T>A (p.Leu657Gln) c.194+78254T>A c.1709T>A (p.Leu570Gln) | dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.48459697T>C | CA388166686 | RB1 | c.1970T>C (p.Leu657Pro) c.194+78254T>C c.1709T>C (p.Leu570Pro) | COSMIC COSMIC |
13 | g.48459697T>G | CA388166687 | RB1 | c.1970T>G (p.Leu657Arg) c.194+78254T>G c.1709T>G (p.Leu570Arg) | |
13 | g.48459697T= | CA2090019565 | RB1 | c.1970T= (p.Leu657=) c.194+78254T= c.1709T= (p.Leu570=) | |
13 | g.48459697dup | CA915940682 | RB1 | c.1970dup (p.Ala658SerfsTer10) c.194+78254dup c.1709dup (p.Ala571SerfsTer10) | ClinVar dbSNP |
13 | g.48459698A>C | CA483558978 | RB1 | c.1971A>C (p.Leu657=) c.194+78255A>C c.1710A>C (p.Leu570=) | |
13 | g.48459698A>G | CA483558976 | RB1 | c.1971A>G (p.Leu657=) c.194+78255A>G c.1710A>G (p.Leu570=) | ClinVar dbSNP gnomAD v4 |
13 | g.48459698A>T | CA483558977 | RB1 | c.1971A>T (p.Leu657=) c.194+78255A>T c.1710A>T (p.Leu570=) | dbSNP |
13 | g.48459698dup | CA6978902 | RB1 | c.1971dup (p.Ala658SerfsTer10) c.194+78255dup c.1710dup (p.Ala571SerfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48459699G>A | CA033458 | RB1 | c.1972G>A (p.Ala658Thr) c.194+78256G>A c.1711G>A (p.Ala571Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48459699G>C | CA388166689 | RB1 | c.1972G>C (p.Ala658Pro) c.194+78256G>C c.1711G>C (p.Ala571Pro) | dbSNP |
13 | g.48459699G= | CA2090019570 | RB1 | c.1972G= (p.Ala658=) c.194+78256G= c.1711G= (p.Ala571=) | |
13 | g.48459699G>T | CA388166688 | RB1 | c.1972G>T (p.Ala658Ser) c.194+78256G>T c.1711G>T (p.Ala571Ser) | gnomAD v4 |
13 | g.48459700C>A | CA026416 | RB1 | c.1973C>A (p.Ala658Asp) c.194+78257C>A c.1712C>A (p.Ala571Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48459700C= | CA2090019575 | RB1 | c.1973C= (p.Ala658=) c.194+78257C= c.1712C= (p.Ala571=) | |
13 | g.48459700C>G | CA388166690 | RB1 | c.1973C>G (p.Ala658Gly) c.194+78257C>G c.1712C>G (p.Ala571Gly) | dbSNP |
13 | g.48459700C>T | CA033500 | RB1 | c.1973C>T (p.Ala658Val) c.194+78257C>T c.1712C>T (p.Ala571Val) | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.48459701del | CA645571612 | RB1 | c.1974del (p.Tyr659IlefsTer4) c.194+78258del c.1713del (p.Tyr572IlefsTer4) | COSMIC COSMIC |
13 | g.48459702_48459708del | CA2695196500 | RB1 | c.1975_1981del (p.Tyr659GlyfsTer2) c.194+78259_194+78265del c.1714_1720del (p.Tyr572GlyfsTer2) | |
13 | g.48459701_48459708del | CA2695218625 | RB1 | c.1974_1981del (p.Tyr659AlafsTer6) c.194+78258_194+78265del c.1713_1720del (p.Tyr572AlafsTer6) | |
13 | g.48459701C>A | CA483558979 | RB1 | c.1974C>A (p.Ala658=) c.194+78258C>A c.1713C>A (p.Ala571=) | dbSNP |
13 | g.48459701C>G | CA483558980 | RB1 | c.1974C>G (p.Ala658=) c.194+78258C>G c.1713C>G (p.Ala571=) | |
13 | g.48459701C>T | CA483558981 | RB1 | c.1974C>T (p.Ala658=) c.194+78258C>T c.1713C>T (p.Ala571=) | dbSNP gnomAD v4 |
13 | g.48459701_48459711delinsGGCT | CA2695218627 | RB1 | c.1974_1984delinsGGCT (p.Tyr659AlafsTer2) c.194+78258_194+78268delinsGGCT c.1713_1723delinsGGCT (p.Tyr572AlafsTer2) | |
13 | g.48459702T>A | CA033521 | RB1 | c.1975T>A (p.Tyr659Asn) c.194+78259T>A c.1714T>A (p.Tyr572Asn) | dbSNP ExAC |
13 | g.48459702T>C | CA033537 | RB1 | c.1975T>C (p.Tyr659His) c.194+78259T>C c.1714T>C (p.Tyr572His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48459702T>G | CA388166691 | RB1 | c.1975T>G (p.Tyr659Asp) c.194+78259T>G c.1714T>G (p.Tyr572Asp) | |
13 | g.48459702T= | CA2090019583 | RB1 | c.1975T= (p.Tyr659=) c.194+78259T= c.1714T= (p.Tyr572=) | |
13 | g.48459703A= | CA2090019589 | RB1 | c.1976A= (p.Tyr659=) c.194+78260A= c.1715A= (p.Tyr572=) | |
13 | g.48459703A>C | CA388166692 | RB1 | c.1976A>C (p.Tyr659Ser) c.194+78260A>C c.1715A>C (p.Tyr572Ser) | dbSNP |
13 | g.48459703A>G | CA033544 | RB1 | c.1976A>G (p.Tyr659Cys) c.194+78260A>G c.1715A>G (p.Tyr572Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48459703A>T | CA388166693 | RB1 | c.1976A>T (p.Tyr659Phe) c.194+78260A>T c.1715A>T (p.Tyr572Phe) | dbSNP COSMIC COSMIC |