UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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 |
| 13 | g.48459703_48459722delinsATCTCCGGCTAAATACACTT | CA2090019590 | RB1 | c.1976_1995delinsATCTCCGGCTAAATACACTT (p.Tyr659=) c.194+78260_194+78279delinsATCTCCGGCTAAATACACTT c.1715_1734delinsATCTCCGGCTAAATACACTT (p.Tyr572=) | |
| 13 | g.48459704T>A | CA388166694 | RB1 | c.1977T>A (p.Tyr659Ter) c.194+78261T>A c.1716T>A (p.Tyr572Ter) | |
| 13 | g.48459704T>C | CA033560 | RB1 | c.1977T>C (p.Tyr659=) c.194+78261T>C c.1716T>C (p.Tyr572=) | ClinVar dbSNP ExAC |
| 13 | g.48459704T>G | CA388166695 | RB1 | c.1977T>G (p.Tyr659Ter) c.194+78261T>G c.1716T>G (p.Tyr572Ter) | |
| 13 | g.48459704T= | CA2090019595 | RB1 | c.1977T= (p.Tyr659=) c.194+78261T= c.1716T= (p.Tyr572=) | |
| 13 | g.48459705_48459723del | CA915948565 | RB1 | c.1978_1996del (p.Leu660ValfsTer11) c.194+78262_194+78280del c.1717_1735del (p.Leu573ValfsTer11) | ClinVar dbSNP |
| 13 | g.48459705C>A | CA388166698 | RB1 | c.1978C>A (p.Leu660Ile) c.194+78262C>A c.1717C>A (p.Leu573Ile) | |
| 13 | g.48459705C>G | CA388166697 | RB1 | c.1978C>G (p.Leu660Val) c.194+78262C>G c.1717C>G (p.Leu573Val) | dbSNP |
| 13 | g.48459705C>T | CA388166696 | RB1 | c.1978C>T (p.Leu660Phe) c.194+78262C>T c.1717C>T (p.Leu573Phe) | dbSNP |
| 13 | g.48459706T>A | CA388166699 | RB1 | c.1979T>A (p.Leu660His) c.194+78263T>A c.1718T>A (p.Leu573His) | |
| 13 | g.48459706T>C | CA388166700 | RB1 | c.1979T>C (p.Leu660Pro) c.194+78263T>C c.1718T>C (p.Leu573Pro) | |
| 13 | g.48459706T>G | CA388166701 | RB1 | c.1979T>G (p.Leu660Arg) c.194+78263T>G c.1718T>G (p.Leu573Arg) | |
| 13 | g.48459706_48459710delinsTCCGG | CA2090019600 | RB1 | c.1979_1983delinsTCCGG (p.Leu660=) c.194+78263_194+78267delinsTCCGG c.1718_1722delinsTCCGG (p.Leu573=) | |
| 13 | g.48459707C>A | CA483558982 | RB1 | c.1980C>A (p.Leu660=) c.194+78264C>A c.1719C>A (p.Leu573=) | |
| 13 | g.48459707C>G | CA483558983 | RB1 | c.1980C>G (p.Leu660=) c.194+78264C>G c.1719C>G (p.Leu573=) | ClinVar dbSNP |
| 13 | g.48459707C>T | CA483558984 | RB1 | c.1980C>T (p.Leu660=) c.194+78264C>T c.1719C>T (p.Leu573=) | dbSNP |
| 13 | g.48459708del | CA2695218629 | RB1 | c.1981del (p.Arg661GlyfsTer2) c.194+78265del c.1720del (p.Arg574GlyfsTer2) | |
| 13 | g.48459708_48459711del | CA249308116 | RB1 | c.1981_1984del (p.Arg661Ter) c.194+78265_194+78268del c.1720_1723del (p.Arg574Ter) | dbSNP COSMIC |
| 13 | g.48459708C>A | CA483558985 | RB1 | c.1981C>A (p.Arg661=) c.194+78265C>A c.1720C>A (p.Arg574=) | dbSNP |
| 13 | g.48459708C= | CA2090019609 | RB1 | c.1981C= (p.Arg661=) c.194+78265C= c.1720C= (p.Arg574=) | |
| 13 | g.48459708C>G | CA388166702 | RB1 | c.1981C>G (p.Arg661Gly) c.194+78265C>G c.1720C>G (p.Arg574Gly) | dbSNP |
| 13 | g.48459708C>T | CA026417 | RB1 | c.1981C>T (p.Arg661Trp) c.194+78265C>T c.1720C>T (p.Arg574Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.48459709G>A | CA033613 | RB1 | c.1982G>A (p.Arg661Gln) c.194+78266G>A c.1721G>A (p.Arg574Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.48459709G>C | CA033625 | RB1 | c.1982G>C (p.Arg661Pro) c.194+78266G>C c.1721G>C (p.Arg574Pro) | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.48459709G= | CA2090019617 | RB1 | c.1982G= (p.Arg661=) c.194+78266G= c.1721G= (p.Arg574=) | |
| 13 | g.48459709G>T | CA388166703 | RB1 | c.1982G>T (p.Arg661Leu) c.194+78266G>T c.1721G>T (p.Arg574Leu) | |
| 13 | g.48459710G>A | CA483558986 | RB1 | c.1983G>A (p.Arg661=) c.194+78267G>A c.1722G>A (p.Arg574=) | dbSNP |
| 13 | g.48459710G>C | CA483558987 | RB1 | c.1983G>C (p.Arg661=) c.194+78267G>C c.1722G>C (p.Arg574=) | ClinVar dbSNP |
| 13 | g.48459710G>T | CA483558988 | RB1 | c.1983G>T (p.Arg661=) c.194+78267G>T c.1722G>T (p.Arg574=) | dbSNP |
| 13 | g.48459711C>A | CA388166704 | RB1 | c.1984C>A (p.Leu662Ile) c.194+78268C>A c.1723C>A (p.Leu575Ile) | |
| 13 | g.48459711C= | CA2090019627 | RB1 | c.1984C= (p.Leu662=) c.194+78268C= c.1723C= (p.Leu575=) | |
| 13 | g.48459711C>G | CA388166705 | RB1 | c.1984C>G (p.Leu662Val) c.194+78268C>G c.1723C>G (p.Leu575Val) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459711C>T | CA483558989 | RB1 | c.1984C>T (p.Leu662=) c.194+78268C>T c.1723C>T (p.Leu575=) | dbSNP |
| 13 | g.48459712T>A | CA388166706 | RB1 | c.1985T>A (p.Leu662Gln) c.194+78269T>A c.1724T>A (p.Leu575Gln) | ClinVar |
| 13 | g.48459712T>C | CA388166707 | RB1 | c.1985T>C (p.Leu662Pro) c.194+78269T>C c.1724T>C (p.Leu575Pro) | |
| 13 | g.48459712T>G | CA388166708 | RB1 | c.1985T>G (p.Leu662Arg) c.194+78269T>G c.1724T>G (p.Leu575Arg) | |
| 13 | g.48459713A>C | CA483558991 | RB1 | c.1986A>C (p.Leu662=) c.194+78270A>C c.1725A>C (p.Leu575=) | |
| 13 | g.48459713A>G | CA483558992 | RB1 | c.1986A>G (p.Leu662=) c.194+78270A>G c.1725A>G (p.Leu575=) | |
| 13 | g.48459713A>T | CA483558990 | RB1 | c.1986A>T (p.Leu662=) c.194+78270A>T c.1725A>T (p.Leu575=) | dbSNP |
| 13 | g.48459715del | CA2728090105 | RB1 | c.1988del (p.Asn663IlefsTer14) c.194+78272del c.1727del (p.Asn576IlefsTer14) | dbSNP |
| 13 | g.48459714A>C | CA388166709 | RB1 | c.1987A>C (p.Asn663His) c.194+78271A>C c.1726A>C (p.Asn576His) | gnomAD v4 |
| 13 | g.48459714A>G | CA388166710 | RB1 | c.1987A>G (p.Asn663Asp) c.194+78271A>G c.1726A>G (p.Asn576Asp) | dbSNP |
| 13 | g.48459714A>T | CA388166711 | RB1 | c.1987A>T (p.Asn663Tyr) c.194+78271A>T c.1726A>T (p.Asn576Tyr) | dbSNP |
| 13 | g.48459715A= | CA2090019633 | RB1 | c.1988A= (p.Asn663=) c.194+78272A= c.1727A= (p.Asn576=) | |
| 13 | g.48459715A>C | CA388166712 | RB1 | c.1988A>C (p.Asn663Thr) c.194+78272A>C c.1727A>C (p.Asn576Thr) | |
| 13 | g.48459715A>G | CA249308126 | RB1 | c.1988A>G (p.Asn663Ser) c.194+78272A>G c.1727A>G (p.Asn576Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48459715A>T | CA388166713 | RB1 | c.1988A>T (p.Asn663Ile) c.194+78272A>T c.1727A>T (p.Asn576Ile) | dbSNP COSMIC COSMIC |
| 13 | g.48459716T>A | CA388166714 | RB1 | c.1989T>A (p.Asn663Lys) c.194+78273T>A c.1728T>A (p.Asn576Lys) | dbSNP |
| 13 | g.48459716T>C | CA033637 | RB1 | c.1989T>C (p.Asn663=) c.194+78273T>C c.1728T>C (p.Asn576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48459716T>G | CA388166715 | RB1 | c.1989T>G (p.Asn663Lys) c.194+78273T>G c.1728T>G (p.Asn576Lys) | |
| 13 | g.48459716T= | CA2090019639 | RB1 | c.1989T= (p.Asn663=) c.194+78273T= c.1728T= (p.Asn576=) | |
| 13 | g.48459717A>C | CA388166716 | RB1 | c.1990A>C (p.Thr664Pro) c.194+78274A>C c.1729A>C (p.Thr577Pro) | dbSNP |
| 13 | g.48459717A>G | CA388166717 | RB1 | c.1990A>G (p.Thr664Ala) c.194+78274A>G c.1729A>G (p.Thr577Ala) | COSMIC |
| 13 | g.48459717A>T | CA388166718 | RB1 | c.1990A>T (p.Thr664Ser) c.194+78274A>T c.1729A>T (p.Thr577Ser) | dbSNP |
| 13 | g.48459717dup | CA645571614 | RB1 | c.1990dup (p.Thr664AsnfsTer4) c.194+78274dup c.1729dup (p.Thr577AsnfsTer4) | COSMIC COSMIC |
| 13 | g.48459719_48459720del | CA645571613 | RB1 | c.1992_1993del (p.Cys666Ter) c.194+78276_194+78277del c.1731_1732del (p.Cys579Ter) | COSMIC COSMIC |
| 13 | g.48459721_48459787del | CA645571615 | RB1 | c.1994_2060del (p.Leu665ProfsTer9) c.194+78278_194+78344del c.1733_1799del (p.Leu578ProfsTer9) | COSMIC |
| 13 | g.48459718C>A | CA033652 | RB1 | c.1991C>A (p.Thr664Lys) c.194+78275C>A c.1730C>A (p.Thr577Lys) | dbSNP ExAC |
| 13 | g.48459718C= | CA2090019647 | RB1 | c.1991C= (p.Thr664=) c.194+78275C= c.1730C= (p.Thr577=) | |
| 13 | g.48459718C>G | CA388166719 | RB1 | c.1991C>G (p.Thr664Arg) c.194+78275C>G c.1730C>G (p.Thr577Arg) | dbSNP |
| 13 | g.48459718C>T | CA388166720 | RB1 | c.1991C>T (p.Thr664Ile) c.194+78275C>T c.1730C>T (p.Thr577Ile) | ClinVar dbSNP |
| 13 | g.48459719A= | CA2090007952 | RB1 | c.1992A= (p.Thr664=) c.194+78276A= c.1731A= (p.Thr577=) | |
| 13 | g.48459719A>C | CA483558993 | RB1 | c.1992A>C (p.Thr664=) c.194+78276A>C c.1731A>C (p.Thr577=) | |
| 13 | g.48459719A>G | CA033667 | RB1 | c.1992A>G (p.Thr664=) c.194+78276A>G c.1731A>G (p.Thr577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48459719A>T | CA033684 | RB1 | c.1992A>T (p.Thr664=) c.194+78276A>T c.1731A>T (p.Thr577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48459720del | CA2580614720 | RB1 | c.1993del (p.Leu665PhefsTer12) c.194+78277del c.1732del (p.Leu578PhefsTer12) | ClinVar |
| 13 | g.48459720C>A | CA388166721 | RB1 | c.1993C>A (p.Leu665Ile) c.194+78277C>A c.1732C>A (p.Leu578Ile) | |
| 13 | g.48459720C>G | CA388166722 | RB1 | c.1993C>G (p.Leu665Val) c.194+78277C>G c.1732C>G (p.Leu578Val) | |
| 13 | g.48459720C>T | CA388166723 | RB1 | c.1993C>T (p.Leu665Phe) c.194+78277C>T c.1732C>T (p.Leu578Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459721T>A | CA388166725 | RB1 | c.1994T>A (p.Leu665His) c.194+78278T>A c.1733T>A (p.Leu578His) | dbSNP |
| 13 | g.48459721T>C | CA388166724 | RB1 | c.1994T>C (p.Leu665Pro) c.194+78278T>C c.1733T>C (p.Leu578Pro) | |
| 13 | g.48459721T>G | CA026418 | RB1 | c.1994T>G (p.Leu665Arg) c.194+78278T>G c.1733T>G (p.Leu578Arg) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48459721T= | CA2090007960 | RB1 | c.1994T= (p.Leu665=) c.194+78278T= c.1733T= (p.Leu578=) | |
| 13 | g.48459723dup | CA2695218630 | RB1 | c.1996dup (p.Cys666LeufsTer2) c.194+78280dup c.1735dup (p.Cys579LeufsTer2) | |
| 13 | g.48459723del | CA2728090115 | RB1 | c.1996del (p.Cys666ValfsTer11) c.194+78280del c.1735del (p.Cys579ValfsTer11) | dbSNP |
| 13 | g.48459722T>A | CA483558994 | RB1 | c.1995T>A (p.Leu665=) c.194+78279T>A c.1734T>A (p.Leu578=) | |
| 13 | g.48459722T>C | CA483558995 | RB1 | c.1995T>C (p.Leu665=) c.194+78279T>C c.1734T>C (p.Leu578=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48459722T>G | CA483558996 | RB1 | c.1995T>G (p.Leu665=) c.194+78279T>G c.1734T>G (p.Leu578=) | |
| 13 | g.48459723T>A | CA388166726 | RB1 | c.1996T>A (p.Cys666Ser) c.194+78280T>A c.1735T>A (p.Cys579Ser) | |
| 13 | g.48459723T>C | CA388166727 | RB1 | c.1996T>C (p.Cys666Arg) c.194+78280T>C c.1735T>C (p.Cys579Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48459723T>G | CA388166728 | RB1 | c.1996T>G (p.Cys666Gly) c.194+78280T>G c.1735T>G (p.Cys579Gly) | gnomAD v4 |
| 13 | g.48459723T= | CA2090007964 | RB1 | c.1996T= (p.Cys666=) c.194+78280T= c.1735T= (p.Cys579=) | |
| 13 | g.48459724G>A | CA388166729 | RB1 | c.1997G>A (p.Cys666Tyr) c.194+78281G>A c.1736G>A (p.Cys579Tyr) | dbSNP |
| 13 | g.48459724G>C | CA388166730 | RB1 | c.1997G>C (p.Cys666Ser) c.194+78281G>C c.1736G>C (p.Cys579Ser) | dbSNP |
| 13 | g.48459724G= | CA2090007967 | RB1 | c.1997G= (p.Cys666=) c.194+78281G= c.1736G= (p.Cys579=) | |
| 13 | g.48459724G>T | CA388166731 | RB1 | c.1997G>T (p.Cys666Phe) c.194+78281G>T c.1736G>T (p.Cys579Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459725T>A | CA388166732 | RB1 | c.1998T>A (p.Cys666Ter) c.194+78282T>A c.1737T>A (p.Cys579Ter) | |
| 13 | g.48459725T>C | CA483558997 | RB1 | c.1998T>C (p.Cys666=) c.194+78282T>C c.1737T>C (p.Cys579=) | |
| 13 | g.48459725T>G | CA388166733 | RB1 | c.1998T>G (p.Cys666Trp) c.194+78282T>G c.1737T>G (p.Cys579Trp) | |
| 13 | g.48459726G>A | CA249308151 | RB1 | c.1999G>A (p.Glu667Lys) c.194+78283G>A c.1738G>A (p.Glu580Lys) | dbSNP |
| 13 | g.48459726G>C | CA388166734 | RB1 | c.1999G>C (p.Glu667Gln) c.194+78283G>C c.1738G>C (p.Glu580Gln) | dbSNP |
| 13 | g.48459726G= | CA2090007968 | RB1 | c.1999G= (p.Glu667=) c.194+78283G= c.1738G= (p.Glu580=) | |
| 13 | g.48459726G>T | CA388166735 | RB1 | c.1999G>T (p.Glu667Ter) c.194+78283G>T c.1738G>T (p.Glu580Ter) | dbSNP |
| 13 | g.48459727A>C | CA388166738 | RB1 | c.2000A>C (p.Glu667Ala) c.194+78284A>C c.1739A>C (p.Glu580Ala) | dbSNP |
| 13 | g.48459727A>G | CA388166737 | RB1 | c.2000A>G (p.Glu667Gly) c.194+78284A>G c.1739A>G (p.Glu580Gly) | |
| 13 | g.48459727A>T | CA388166736 | RB1 | c.2000A>T (p.Glu667Val) c.194+78284A>T c.1739A>T (p.Glu580Val) | dbSNP |
| 13 | g.48459728A>C | CA388166739 | RB1 | c.2001A>C (p.Glu667Asp) c.194+78285A>C c.1740A>C (p.Glu580Asp) | dbSNP |
| 13 | g.48459728A>G | CA483558998 | RB1 | c.2001A>G (p.Glu667=) c.194+78285A>G c.1740A>G (p.Glu580=) | |
| 13 | g.48459728A>T | CA388166740 | RB1 | c.2001A>T (p.Glu667Asp) c.194+78285A>T c.1740A>T (p.Glu580Asp) | dbSNP |
| 13 | g.48459729C>A | CA388166741 | RB1 | c.2002C>A (p.Arg668Ser) c.194+78286C>A c.1741C>A (p.Arg581Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459729C= | CA2090007971 | RB1 | c.2002C= (p.Arg668=) c.194+78286C= c.1741C= (p.Arg581=) | |
| 13 | g.48459729C>G | CA388166742 | RB1 | c.2002C>G (p.Arg668Gly) c.194+78286C>G c.1741C>G (p.Arg581Gly) | dbSNP |
| 13 | g.48459729C>T | CA033725 | RB1 | c.2002C>T (p.Arg668Cys) c.194+78286C>T c.1741C>T (p.Arg581Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48459730G>A | CA033741 | RB1 | c.2003G>A (p.Arg668His) c.194+78287G>A c.1742G>A (p.Arg581His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.48459730G>C | CA388166743 | RB1 | c.2003G>C (p.Arg668Pro) c.194+78287G>C c.1742G>C (p.Arg581Pro) | dbSNP |
| 13 | g.48459730G= | CA2090007980 | RB1 | c.2003G= (p.Arg668=) c.194+78287G= c.1742G= (p.Arg581=) | |
| 13 | g.48459730G>T | CA388166744 | RB1 | c.2003G>T (p.Arg668Leu) c.194+78287G>T c.1742G>T (p.Arg581Leu) | dbSNP |
| 13 | g.48459731C>A | CA483558999 | RB1 | c.2004C>A (p.Arg668=) c.194+78288C>A c.1743C>A (p.Arg581=) | dbSNP |
| 13 | g.48459731C= | CA2090007984 | RB1 | c.2004C= (p.Arg668=) c.194+78288C= c.1743C= (p.Arg581=) | |
| 13 | g.48459731C>G | CA483559000 | RB1 | c.2004C>G (p.Arg668=) c.194+78288C>G c.1743C>G (p.Arg581=) | dbSNP |
| 13 | g.48459731C>T | CA033760 | RB1 | c.2004C>T (p.Arg668=) c.194+78288C>T c.1743C>T (p.Arg581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48459732C>A | CA388166745 | RB1 | c.2005C>A (p.Leu669Ile) c.194+78289C>A c.1744C>A (p.Leu582Ile) | |
| 13 | g.48459732C>G | CA388166746 | RB1 | c.2005C>G (p.Leu669Val) c.194+78289C>G c.1744C>G (p.Leu582Val) | |
| 13 | g.48459732C>T | CA388166747 | RB1 | c.2005C>T (p.Leu669Phe) c.194+78289C>T c.1744C>T (p.Leu582Phe) | |
| 13 | g.48459733T>A | CA388166748 | RB1 | c.2006T>A (p.Leu669His) c.194+78290T>A c.1745T>A (p.Leu582His) | |
| 13 | g.48459733T>C | CA388166749 | RB1 | c.2006T>C (p.Leu669Pro) c.194+78290T>C c.1745T>C (p.Leu582Pro) | ClinVar dbSNP |
| 13 | g.48459733T>G | CA388166750 | RB1 | c.2006T>G (p.Leu669Arg) c.194+78290T>G c.1745T>G (p.Leu582Arg) | |
| 13 | g.48459733T= | CA2090008002 | RB1 | c.2006T= (p.Leu669=) c.194+78290T= c.1745T= (p.Leu582=) | |
| 13 | g.48459733_48459737delinsTTCTG | CA2090008005 | RB1 | c.2006_2010delinsTTCTG (p.Leu669=) c.194+78290_194+78294delinsTTCTG c.1745_1749delinsTTCTG (p.Leu582=) | |
| 13 | g.48459734T>A | CA483559001 | RB1 | c.2007T>A (p.Leu669=) c.194+78291T>A c.1746T>A (p.Leu582=) | |
| 13 | g.48459734T>C | CA483559002 | RB1 | c.2007T>C (p.Leu669=) c.194+78291T>C c.1746T>C (p.Leu582=) | |
| 13 | g.48459734T>G | CA483559003 | RB1 | c.2007T>G (p.Leu669=) c.194+78291T>G c.1746T>G (p.Leu582=) | |
| 13 | g.48459738_48459741del | CA645369597 | RB1 | c.2011_2014del (p.Glu672ThrfsTer4) c.194+78295_194+78298del c.1750_1753del (p.Glu585ThrfsTer4) | ClinVar dbSNP |
| 13 | g.48459735C>A | CA388166752 | RB1 | c.2008C>A (p.Leu670Met) c.194+78292C>A c.1747C>A (p.Leu583Met) | |
| 13 | g.48459735C>G | CA388166751 | RB1 | c.2008C>G (p.Leu670Val) c.194+78292C>G c.1747C>G (p.Leu583Val) | dbSNP |
| 13 | g.48459735C>T | CA483559004 | RB1 | c.2008C>T (p.Leu670=) c.194+78292C>T c.1747C>T (p.Leu583=) | dbSNP |
| 13 | g.48459736T>A | CA388166753 | RB1 | c.2009T>A (p.Leu670Gln) c.194+78293T>A c.1748T>A (p.Leu583Gln) | dbSNP |
| 13 | g.48459736T>C | CA388166754 | RB1 | c.2009T>C (p.Leu670Pro) c.194+78293T>C c.1748T>C (p.Leu583Pro) | |
| 13 | g.48459736T>G | CA388166755 | RB1 | c.2009T>G (p.Leu670Arg) c.194+78293T>G c.1748T>G (p.Leu583Arg) | |
| 13 | g.48459737G>A | CA483559005 | RB1 | c.2010G>A (p.Leu670=) c.194+78294G>A c.1749G>A (p.Leu583=) | ClinVar dbSNP |
| 13 | g.48459737G>C | CA483559006 | RB1 | c.2010G>C (p.Leu670=) c.194+78294G>C c.1749G>C (p.Leu583=) | ClinVar dbSNP |
| 13 | g.48459737G= | CA2090008009 | RB1 | c.2010G= (p.Leu670=) c.194+78294G= c.1749G= (p.Leu583=) | |
| 13 | g.48459737G>T | CA483559007 | RB1 | c.2010G>T (p.Leu670=) c.194+78294G>T c.1749G>T (p.Leu583=) | |
| 13 | g.48459738T>A | CA388166756 | RB1 | c.2011T>A (p.Ser671Thr) c.194+78295T>A c.1750T>A (p.Ser584Thr) | dbSNP |
| 13 | g.48459738T>C | CA388166757 | RB1 | c.2011T>C (p.Ser671Pro) c.194+78295T>C c.1750T>C (p.Ser584Pro) | |
| 13 | g.48459738T>G | CA388166758 | RB1 | c.2011T>G (p.Ser671Ala) c.194+78295T>G c.1750T>G (p.Ser584Ala) | |
| 13 | g.48459739C>A | CA388166759 | RB1 | c.2012C>A (p.Ser671Tyr) c.194+78296C>A c.1751C>A (p.Ser584Tyr) | |
| 13 | g.48459739C>G | CA388166760 | RB1 | c.2012C>G (p.Ser671Cys) c.194+78296C>G c.1751C>G (p.Ser584Cys) | dbSNP gnomAD v4 |
| 13 | g.48459739C>T | CA388166761 | RB1 | c.2012C>T (p.Ser671Phe) c.194+78296C>T c.1751C>T (p.Ser584Phe) | dbSNP |
| 13 | g.48459739_48459741del | CA645571616 | RB1 | c.2012_2014del (p.Ser671Ter) c.194+78296_194+78298del c.1751_1753del (p.Ser584Ter) | COSMIC COSMIC |
| 13 | g.48459740T>A | CA483559008 | RB1 | c.2013T>A (p.Ser671=) c.194+78297T>A c.1752T>A (p.Ser584=) | |
| 13 | g.48459740T>C | CA483559009 | RB1 | c.2013T>C (p.Ser671=) c.194+78297T>C c.1752T>C (p.Ser584=) | ClinVar dbSNP |
| 13 | g.48459740T>G | CA483559010 | RB1 | c.2013T>G (p.Ser671=) c.194+78297T>G c.1752T>G (p.Ser584=) | |
| 13 | g.48459740dup | CA2573149590 | RB1 | c.2013dup (p.Glu672Ter) c.194+78297dup c.1752dup (p.Glu585Ter) | ClinVar dbSNP |
| 13 | g.48459741G>A | CA388166762 | RB1 | c.2014G>A (p.Glu672Lys) c.194+78298G>A c.1753G>A (p.Glu585Lys) | dbSNP |
| 13 | g.48459741G>C | CA388166763 | RB1 | c.2014G>C (p.Glu672Gln) c.194+78298G>C c.1753G>C (p.Glu585Gln) | dbSNP |
| 13 | g.48459741G= | CA2090008014 | RB1 | c.2014G= (p.Glu672=) c.194+78298G= c.1753G= (p.Glu585=) | |
| 13 | g.48459741G>T | CA388166764 | RB1 | c.2014G>T (p.Glu672Ter) c.194+78298G>T c.1753G>T (p.Glu585Ter) | ClinVar dbSNP |
| 13 | g.48459742A>C | CA388166767 | RB1 | c.2015A>C (p.Glu672Ala) c.194+78299A>C c.1754A>C (p.Glu585Ala) | |
| 13 | g.48459742A>G | CA388166766 | RB1 | c.2015A>G (p.Glu672Gly) c.194+78299A>G c.1754A>G (p.Glu585Gly) | dbSNP |
| 13 | g.48459742A>T | CA388166765 | RB1 | c.2015A>T (p.Glu672Val) c.194+78299A>T c.1754A>T (p.Glu585Val) | dbSNP |
| 13 | g.48459743G>A | CA483559011 | RB1 | c.2016G>A (p.Glu672=) c.194+78300G>A c.1755G>A (p.Glu585=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48459743G>C | CA388166768 | RB1 | c.2016G>C (p.Glu672Asp) c.194+78300G>C c.1755G>C (p.Glu585Asp) | ClinVar dbSNP |
| 13 | g.48459743G= | CA2090008018 | RB1 | c.2016G= (p.Glu672=) c.194+78300G= c.1755G= (p.Glu585=) | |
| 13 | g.48459743G>T | CA388166769 | RB1 | c.2016G>T (p.Glu672Asp) c.194+78300G>T c.1755G>T (p.Glu585Asp) | |
| 13 | g.48459744C>A | CA388166770 | RB1 | c.2017C>A (p.His673Asn) c.194+78301C>A c.1756C>A (p.His586Asn) | |
| 13 | g.48459744C= | CA2090008022 | RB1 | c.2017C= (p.His673=) c.194+78301C= c.1756C= (p.His586=) | |
| 13 | g.48459744C>G | CA249308162 | RB1 | c.2017C>G (p.His673Asp) c.194+78301C>G c.1756C>G (p.His586Asp) | dbSNP |
| 13 | g.48459744C>T | CA388166771 | RB1 | c.2017C>T (p.His673Tyr) c.194+78301C>T c.1756C>T (p.His586Tyr) | ClinVar dbSNP COSMIC |
| 13 | g.48459745A>C | CA388166772 | RB1 | c.2018A>C (p.His673Pro) c.194+78302A>C c.1757A>C (p.His586Pro) | dbSNP COSMIC |
| 13 | g.48459745A>G | CA388166773 | RB1 | c.2018A>G (p.His673Arg) c.194+78302A>G c.1757A>G (p.His586Arg) | |
| 13 | g.48459745A>T | CA388166774 | RB1 | c.2018A>T (p.His673Leu) c.194+78302A>T c.1757A>T (p.His586Leu) | |
| 13 | g.48459746C>A | CA388166775 | RB1 | c.2019C>A (p.His673Gln) c.194+78303C>A c.1758C>A (p.His586Gln) | dbSNP gnomAD v4 |
| 13 | g.48459746C= | CA2090008025 | RB1 | c.2019C= (p.His673=) c.194+78303C= c.1758C= (p.His586=) | |
| 13 | g.48459746C>G | CA388166776 | RB1 | c.2019C>G (p.His673Gln) c.194+78303C>G c.1758C>G (p.His586Gln) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48459746C>T | CA483559012 | RB1 | c.2019C>T (p.His673=) c.194+78303C>T c.1758C>T (p.His586=) | dbSNP |
| 13 | g.48459748del | CA2695218634 | RB1 | c.2021del (p.Pro674GlnfsTer3) c.194+78305del c.1760del (p.Pro587GlnfsTer3) | |
| 13 | g.48459747C>A | CA388166777 | RB1 | c.2020C>A (p.Pro674Thr) c.194+78304C>A c.1759C>A (p.Pro587Thr) | dbSNP |
| 13 | g.48459747C= | CA2090008028 | RB1 | c.2020C= (p.Pro674=) c.194+78304C= c.1759C= (p.Pro587=) | |
| 13 | g.48459747C>G | CA388166778 | RB1 | c.2020C>G (p.Pro674Ala) c.194+78304C>G c.1759C>G (p.Pro587Ala) | dbSNP |
| 13 | g.48459747C>T | CA388166779 | RB1 | c.2020C>T (p.Pro674Ser) c.194+78304C>T c.1759C>T (p.Pro587Ser) | ClinVar dbSNP |
| 13 | g.48459748C>A | CA388166782 | RB1 | c.2021C>A (p.Pro674Gln) c.194+78305C>A c.1760C>A (p.Pro587Gln) | dbSNP |
| 13 | g.48459748C>G | CA388166780 | RB1 | c.2021C>G (p.Pro674Arg) c.194+78305C>G c.1760C>G (p.Pro587Arg) | ClinVar dbSNP |
| 13 | g.48459748C>T | CA388166781 | RB1 | c.2021C>T (p.Pro674Leu) c.194+78305C>T c.1760C>T (p.Pro587Leu) | dbSNP |
| 13 | g.48459749del | CA2695218636 | RB1 | c.2022del (p.Glu675AsnfsTer2) c.194+78306del c.1761del (p.Glu588AsnfsTer2) | |
| 13 | g.48459749A= | CA2090008031 | RB1 | c.2022A= (p.Pro674=) c.194+78306A= c.1761A= (p.Pro587=) | |
| 13 | g.48459749A>C | CA033780 | RB1 | c.2022A>C (p.Pro674=) c.194+78306A>C c.1761A>C (p.Pro587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48459749A>G | CA483559013 | RB1 | c.2022A>G (p.Pro674=) c.194+78306A>G c.1761A>G (p.Pro587=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459749A>T | CA483559014 | RB1 | c.2022A>T (p.Pro674=) c.194+78306A>T c.1761A>T (p.Pro587=) | |
| 13 | g.48459750G>A | CA388166783 | RB1 | c.2023G>A (p.Glu675Lys) c.194+78307G>A c.1762G>A (p.Glu588Lys) | dbSNP COSMIC COSMIC |
| 13 | g.48459750G>C | CA388166784 | RB1 | c.2023G>C (p.Glu675Gln) c.194+78307G>C c.1762G>C (p.Glu588Gln) | dbSNP |
| 13 | g.48459750G= | CA2090008041 | RB1 | c.2023G= (p.Glu675=) c.194+78307G= c.1762G= (p.Glu588=) | |
| 13 | g.48459750G>T | CA249308167 | RB1 | c.2023G>T (p.Glu675Ter) c.194+78307G>T c.1762G>T (p.Glu588Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48459751A= | CA2090008043 | RB1 | c.2024A= (p.Glu675=) c.194+78308A= c.1763A= (p.Glu588=) | |
| 13 | g.48459751A>C | CA388166785 | RB1 | c.2024A>C (p.Glu675Ala) c.194+78308A>C c.1763A>C (p.Glu588Ala) | dbSNP |
| 13 | g.48459751A>G | CA388166786 | RB1 | c.2024A>G (p.Glu675Gly) c.194+78308A>G c.1763A>G (p.Glu588Gly) | |
| 13 | g.48459751A>T | CA388166787 | RB1 | c.2024A>T (p.Glu675Val) c.194+78308A>T c.1763A>T (p.Glu588Val) | |
| 13 | g.48459752A>C | CA388166788 | RB1 | c.2025A>C (p.Glu675Asp) c.194+78309A>C c.1764A>C (p.Glu588Asp) | |
| 13 | g.48459752A>G | CA483559015 | RB1 | c.2025A>G (p.Glu675=) c.194+78309A>G c.1764A>G (p.Glu588=) | ClinVar |
| 13 | g.48459752A>T | CA388166789 | RB1 | c.2025A>T (p.Glu675Asp) c.194+78309A>T c.1764A>T (p.Glu588Asp) | |
| 13 | g.48459754_48459761dup | CA645571617 | RB1 | c.2027_2034dup (p.Ile679Ter) c.194+78311_194+78318dup c.1766_1773dup (p.Ile592Ter) | COSMIC |
| 13 | g.48459753T>A | CA388166790 | RB1 | c.2026T>A (p.Leu676Ile) c.194+78310T>A c.1765T>A (p.Leu589Ile) | |
| 13 | g.48459753T>C | CA483559016 | RB1 | c.2026T>C (p.Leu676=) c.194+78310T>C c.1765T>C (p.Leu589=) | |
| 13 | g.48459753T>G | CA388166791 | RB1 | c.2026T>G (p.Leu676Val) c.194+78310T>G c.1765T>G (p.Leu589Val) | gnomAD v4 |
| 13 | g.48459754T>A | CA388166794 | RB1 | c.2027T>A (p.Leu676Ter) c.194+78311T>A c.1766T>A (p.Leu589Ter) | ClinVar dbSNP |
| 13 | g.48459754T>C | CA388166793 | RB1 | c.2027T>C (p.Leu676Ser) c.194+78311T>C c.1766T>C (p.Leu589Ser) | ClinVar dbSNP |
| 13 | g.48459754T>G | CA388166792 | RB1 | c.2027T>G (p.Leu676Ter) c.194+78311T>G c.1766T>G (p.Leu589Ter) | ClinVar dbSNP |
| 13 | g.48459754T= | CA2090008049 | RB1 | c.2027T= (p.Leu676=) c.194+78311T= c.1766T= (p.Leu589=) | |
| 13 | g.48459755A>C | CA388166795 | RB1 | c.2028A>C (p.Leu676Phe) c.194+78312A>C c.1767A>C (p.Leu589Phe) | |
| 13 | g.48459755A>G | CA483559017 | RB1 | c.2028A>G (p.Leu676=) c.194+78312A>G c.1767A>G (p.Leu589=) | dbSNP gnomAD v4 |
| 13 | g.48459755A>T | CA388166796 | RB1 | c.2028A>T (p.Leu676Phe) c.194+78312A>T c.1767A>T (p.Leu589Phe) | dbSNP |
| 13 | g.48459755_48459767del | CA645571618 | RB1 | c.2028_2040del (p.Leu676PhefsTer16) c.194+78312_194+78324del c.1767_1779del (p.Leu589PhefsTer16) | COSMIC |
| 13 | g.48459756del | CA2695218638 | RB1 | c.2029del (p.Glu677AsnfsTer19) c.194+78313del c.1768del (p.Glu590AsnfsTer19) | |
| 13 | g.48459756G>A | CA388166797 | RB1 | c.2029G>A (p.Glu677Lys) c.194+78313G>A c.1768G>A (p.Glu590Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459756G>C | CA388166798 | RB1 | c.2029G>C (p.Glu677Gln) c.194+78313G>C c.1768G>C (p.Glu590Gln) | dbSNP |
| 13 | g.48459756G= | CA2090008059 | RB1 | c.2029G= (p.Glu677=) c.194+78313G= c.1768G= (p.Glu590=) | |
| 13 | g.48459756G>T | CA16614022 | RB1 | c.2029G>T (p.Glu677Ter) c.194+78313G>T c.1768G>T (p.Glu590Ter) | ClinVar dbSNP COSMIC |
| 13 | g.48459757A= | CA2090008061 | RB1 | c.2030A= (p.Glu677=) c.194+78314A= c.1769A= (p.Glu590=) | |
| 13 | g.48459757A>C | CA388166799 | RB1 | c.2030A>C (p.Glu677Ala) c.194+78314A>C c.1769A>C (p.Glu590Ala) | |
| 13 | g.48459757A>G | CA388166800 | RB1 | c.2030A>G (p.Glu677Gly) c.194+78314A>G c.1769A>G (p.Glu590Gly) | ClinVar dbSNP |
| 13 | g.48459757A>T | CA388166801 | RB1 | c.2030A>T (p.Glu677Val) c.194+78314A>T c.1769A>T (p.Glu590Val) | dbSNP |
| 13 | g.48459758dup | CA2695218641 | RB1 | c.2031dup (p.His678ThrfsTer14) c.194+78315dup c.1770dup (p.His591ThrfsTer14) | |
| 13 | g.48459758del | CA483559018 | RB1 | c.2031del (p.Glu677AspfsTer19) c.194+78315del c.1770del (p.Glu590AspfsTer19) | COSMIC |
| 13 | g.48459758A>C | CA388166802 | RB1 | c.2031A>C (p.Glu677Asp) c.194+78315A>C c.1770A>C (p.Glu590Asp) | |
| 13 | g.48459758A>G | CA483559019 | RB1 | c.2031A>G (p.Glu677=) c.194+78315A>G c.1770A>G (p.Glu590=) | |
| 13 | g.48459758A>T | CA388166803 | RB1 | c.2031A>T (p.Glu677Asp) c.194+78315A>T c.1770A>T (p.Glu590Asp) | dbSNP |
| 13 | g.48459759C>A | CA388166804 | RB1 | c.2032C>A (p.His678Asn) c.194+78316C>A c.1771C>A (p.His591Asn) | dbSNP |
| 13 | g.48459759C>G | CA388166805 | RB1 | c.2032C>G (p.His678Asp) c.194+78316C>G c.1771C>G (p.His591Asp) | dbSNP |
| 13 | g.48459759C>T | CA388166806 | RB1 | c.2032C>T (p.His678Tyr) c.194+78316C>T c.1771C>T (p.His591Tyr) | |
| 13 | g.48459762_48459766del | CA2695218643 | RB1 | c.2035_2039del (p.Ile679LeufsTer11) c.194+78319_194+78323del c.1774_1778del (p.Ile592LeufsTer11) | |
| 13 | g.48459760A= | CA2090008066 | RB1 | c.2033A= (p.His678=) c.194+78317A= c.1772A= (p.His591=) | |
| 13 | g.48459760A>C | CA388166807 | RB1 | c.2033A>C (p.His678Pro) c.194+78317A>C c.1772A>C (p.His591Pro) | |
| 13 | g.48459760A>G | CA388166808 | RB1 | c.2033A>G (p.His678Arg) c.194+78317A>G c.1772A>G (p.His591Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48459760A>T | CA033805 | RB1 | c.2033A>T (p.His678Leu) c.194+78317A>T c.1772A>T (p.His591Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48459760_48459763dup | CA1139768307 | RB1 | c.2033_2036dup (p.Ile680TyrfsTer13) c.194+78317_194+78320dup c.1772_1775dup (p.Ile593TyrfsTer13) | |
| 13 | g.48459761T>A | CA388166809 | RB1 | c.2034T>A (p.His678Gln) c.194+78318T>A c.1773T>A (p.His591Gln) | dbSNP |
| 13 | g.48459761T>C | CA483559020 | RB1 | c.2034T>C (p.His678=) c.194+78318T>C c.1773T>C (p.His591=) | dbSNP |
| 13 | g.48459761T>G | CA388166810 | RB1 | c.2034T>G (p.His678Gln) c.194+78318T>G c.1773T>G (p.His591Gln) | |
| 13 | g.48459761T= | CA2090008071 | RB1 | c.2034T= (p.His678=) c.194+78318T= c.1773T= (p.His591=) | |
| 13 | g.48459761dup | CA2499222469 | RB1 | c.2034dup (p.Ile679TyrfsTer13) c.194+78318dup c.1773dup (p.Ile592TyrfsTer13) | ClinVar dbSNP |
| 13 | g.48459762A= | CA2090008079 | RB1 | c.2035A= (p.Ile679=) c.194+78319A= c.1774A= (p.Ile592=) | |
| 13 | g.48459762A>C | CA388166811 | RB1 | c.2035A>C (p.Ile679Leu) c.194+78319A>C c.1774A>C (p.Ile592Leu) | ClinVar dbSNP |
| 13 | g.48459762A>G | CA249308179 | RB1 | c.2035A>G (p.Ile679Val) c.194+78319A>G c.1774A>G (p.Ile592Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48459762A>T | CA388166812 | RB1 | c.2035A>T (p.Ile679Phe) c.194+78319A>T c.1774A>T (p.Ile592Phe) | dbSNP |
| 13 | g.48459762_48459765dup | CA1139663289 | RB1 | c.2035_2038dup (p.Ile680AsnfsTer13) c.194+78319_194+78322dup c.1774_1777dup (p.Ile593AsnfsTer13) | ClinVar dbSNP |
| 13 | g.48459763del | CA483559021 | RB1 | c.2036del (p.Ile679ThrfsTer17) c.194+78320del c.1775del (p.Ile592ThrfsTer17) | COSMIC COSMIC |
| 13 | g.48459763T>A | CA388166813 | RB1 | c.2036T>A (p.Ile679Asn) c.194+78320T>A c.1775T>A (p.Ile592Asn) | dbSNP |
| 13 | g.48459763T>C | CA388166814 | RB1 | c.2036T>C (p.Ile679Thr) c.194+78320T>C c.1775T>C (p.Ile592Thr) | |
| 13 | g.48459763T>G | CA388166815 | RB1 | c.2036T>G (p.Ile679Ser) c.194+78320T>G c.1775T>G (p.Ile592Ser) | |
| 13 | g.48459764C>A | CA483559022 | RB1 | c.2037C>A (p.Ile679=) c.194+78321C>A c.1776C>A (p.Ile592=) | dbSNP |
| 13 | g.48459764C= | CA2090008081 | RB1 | c.2037C= (p.Ile679=) c.194+78321C= c.1776C= (p.Ile592=) | |
| 13 | g.48459764C>G | CA388166816 | RB1 | c.2037C>G (p.Ile679Met) c.194+78321C>G c.1776C>G (p.Ile592Met) | dbSNP |
| 13 | g.48459764C>T | CA483559023 | RB1 | c.2037C>T (p.Ile679=) c.194+78321C>T c.1776C>T (p.Ile592=) | ClinVar dbSNP |
| 13 | g.48459766_48459781dup | CA2695218645 | RB1 | c.2039_2054dup (p.Gln685HisfsTer12) c.194+78323_194+78338dup c.1778_1793dup (p.Gln598HisfsTer12) | |
| 13 | g.48459765A= | CA2090008082 | RB1 | c.2038A= (p.Ile680=) c.194+78322A= c.1777A= (p.Ile593=) | |
| 13 | g.48459765A>C | CA388166817 | RB1 | c.2038A>C (p.Ile680Leu) c.194+78322A>C c.1777A>C (p.Ile593Leu) | dbSNP gnomAD v4 |
| 13 | g.48459765A>G | CA388166818 | RB1 | c.2038A>G (p.Ile680Val) c.194+78322A>G c.1777A>G (p.Ile593Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48459765A>T | CA388166819 | RB1 | c.2038A>T (p.Ile680Phe) c.194+78322A>T c.1777A>T (p.Ile593Phe) | dbSNP gnomAD v4 |
| 13 | g.48459766T>A | CA388166820 | RB1 | c.2039T>A (p.Ile680Asn) c.194+78323T>A c.1778T>A (p.Ile593Asn) | |
| 13 | g.48459766T>C | CA388166821 | RB1 | c.2039T>C (p.Ile680Thr) c.194+78323T>C c.1778T>C (p.Ile593Thr) | ClinVar dbSNP COSMIC |
| 13 | g.48459766T>G | CA388166822 | RB1 | c.2039T>G (p.Ile680Ser) c.194+78323T>G c.1778T>G (p.Ile593Ser) | |
| 13 | g.48459766T= | CA2090008089 | RB1 | c.2039T= (p.Ile680=) c.194+78323T= c.1778T= (p.Ile593=) | |
| 13 | g.48459766_48459770dup | CA2695218646 | RB1 | c.2039_2043dup (p.Thr682SerfsTer16) c.194+78323_194+78327dup c.1778_1782dup (p.Thr595SerfsTer16) | |
| 13 | g.48459767C>A | CA483559025 | RB1 | c.2040C>A (p.Ile680=) c.194+78324C>A c.1779C>A (p.Ile593=) | ClinVar dbSNP |
| 13 | g.48459767C= | CA2090008092 | RB1 | c.2040C= (p.Ile680=) c.194+78324C= c.1779C= (p.Ile593=) | |
| 13 | g.48459767C>G | CA388166823 | RB1 | c.2040C>G (p.Ile680Met) c.194+78324C>G c.1779C>G (p.Ile593Met) | dbSNP |
| 13 | g.48459767C>T | CA483559024 | RB1 | c.2040C>T (p.Ile680=) c.194+78324C>T c.1779C>T (p.Ile593=) | dbSNP |
| 13 | g.48459768T>A | CA388166825 | RB1 | c.2041T>A (p.Trp681Arg) c.194+78325T>A c.1780T>A (p.Trp594Arg) | |
| 13 | g.48459768T>C | CA388166824 | RB1 | c.2041T>C (p.Trp681Arg) c.194+78325T>C c.1780T>C (p.Trp594Arg) | |
| 13 | g.48459768T>G | CA388166826 | RB1 | c.2041T>G (p.Trp681Gly) c.194+78325T>G c.1780T>G (p.Trp594Gly) | |
| 13 | g.48459769G>A | CA388166827 | RB1 | c.2042G>A (p.Trp681Ter) c.194+78326G>A c.1781G>A (p.Trp594Ter) | ClinVar dbSNP |
| 13 | g.48459769G>C | CA388166828 | RB1 | c.2042G>C (p.Trp681Ser) c.194+78326G>C c.1781G>C (p.Trp594Ser) | dbSNP |
| 13 | g.48459769G>T | CA388166829 | RB1 | c.2042G>T (p.Trp681Leu) c.194+78326G>T c.1781G>T (p.Trp594Leu) | |
| 13 | g.48459770G>A | CA388166830 | RB1 | c.2043G>A (p.Trp681Ter) c.194+78327G>A c.1782G>A (p.Trp594Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48459770G>C | CA388166831 | RB1 | c.2043G>C (p.Trp681Cys) c.194+78327G>C c.1782G>C (p.Trp594Cys) | dbSNP |
| 13 | g.48459770G>T | CA388166832 | RB1 | c.2043G>T (p.Trp681Cys) c.194+78327G>T c.1782G>T (p.Trp594Cys) | dbSNP COSMIC COSMIC |
| 13 | g.48459771A>C | CA388166833 | RB1 | c.2044A>C (p.Thr682Pro) c.194+78328A>C c.1783A>C (p.Thr595Pro) | dbSNP |
| 13 | g.48459771A>G | CA388166834 | RB1 | c.2044A>G (p.Thr682Ala) c.194+78328A>G c.1783A>G (p.Thr595Ala) | dbSNP |
| 13 | g.48459771A>T | CA388166835 | RB1 | c.2044A>T (p.Thr682Ser) c.194+78328A>T c.1783A>T (p.Thr595Ser) | dbSNP |
| 13 | g.48459776_48459790del | CA2695218648 | RB1 | c.2049_2063del (p.Phe684_Leu688del) c.194+78333_194+78347del c.1788_1802del (p.Phe597_Leu601del) | |
| 13 | g.48459772C>A | CA388166836 | RB1 | c.2045C>A (p.Thr682Asn) c.194+78329C>A c.1784C>A (p.Thr595Asn) | dbSNP |
| 13 | g.48459772C>G | CA388166837 | RB1 | c.2045C>G (p.Thr682Ser) c.194+78329C>G c.1784C>G (p.Thr595Ser) | dbSNP |
| 13 | g.48459772C>T | CA388166838 | RB1 | c.2045C>T (p.Thr682Ile) c.194+78329C>T c.1784C>T (p.Thr595Ile) | dbSNP |
| 13 | g.48459774del | CA2580060393 | RB1 | c.2047del (p.Leu683PhefsTer13) c.194+78331del c.1786del (p.Leu596PhefsTer13) | |
| 13 | g.48459773C>A | CA249308182 | RB1 | c.2046C>A (p.Thr682=) c.194+78330C>A c.1785C>A (p.Thr595=) | dbSNP |
| 13 | g.48459773C= | CA2090008095 | RB1 | c.2046C= (p.Thr682=) c.194+78330C= c.1785C= (p.Thr595=) | |
| 13 | g.48459773C>G | CA483559027 | RB1 | c.2046C>G (p.Thr682=) c.194+78330C>G c.1785C>G (p.Thr595=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48459773C>T | CA483559026 | RB1 | c.2046C>T (p.Thr682=) c.194+78330C>T c.1785C>T (p.Thr595=) | ClinVar dbSNP |
| 13 | g.48459773_48459774insA | CA2695218650 | RB1 | c.2046_2047insA (p.Leu683ThrfsTer9) c.194+78330_194+78331insA c.1785_1786insA (p.Leu596ThrfsTer9) | |
| 13 | g.48459774C>A | CA388166841 | RB1 | c.2047C>A (p.Leu683Ile) c.194+78331C>A c.1786C>A (p.Leu596Ile) | |
| 13 | g.48459774C>G | CA388166840 | RB1 | c.2047C>G (p.Leu683Val) c.194+78331C>G c.1786C>G (p.Leu596Val) | |
| 13 | g.48459774C>T | CA388166839 | RB1 | c.2047C>T (p.Leu683Phe) c.194+78331C>T c.1786C>T (p.Leu596Phe) | |
| 13 | g.48459775T>A | CA388166842 | RB1 | c.2048T>A (p.Leu683His) c.194+78332T>A c.1787T>A (p.Leu596His) | |
| 13 | g.48459775T>C | CA388166843 | RB1 | c.2048T>C (p.Leu683Pro) c.194+78332T>C c.1787T>C (p.Leu596Pro) | |
| 13 | g.48459775T>G | CA388166844 | RB1 | c.2048T>G (p.Leu683Arg) c.194+78332T>G c.1787T>G (p.Leu596Arg) | |
| 13 | g.48459778del | CA483559028 | RB1 | c.2051del (p.Phe684SerfsTer12) c.194+78335del c.1790del (p.Phe597SerfsTer12) | COSMIC |
| 13 | g.48459776T>A | CA483559029 | RB1 | c.2049T>A (p.Leu683=) c.194+78333T>A c.1788T>A (p.Leu596=) | |
| 13 | g.48459776T>C | CA249308185 | RB1 | c.2049T>C (p.Leu683=) c.194+78333T>C c.1788T>C (p.Leu596=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459776T>G | CA483559030 | RB1 | c.2049T>G (p.Leu683=) c.194+78333T>G c.1788T>G (p.Leu596=) | ClinVar dbSNP |
| 13 | g.48459776T= | CA2090008099 | RB1 | c.2049T= (p.Leu683=) c.194+78333T= c.1788T= (p.Leu596=) | |
| 13 | g.48459777T>A | CA388166845 | RB1 | c.2050T>A (p.Phe684Ile) c.194+78334T>A c.1789T>A (p.Phe597Ile) | |
| 13 | g.48459777T>C | CA388166846 | RB1 | c.2050T>C (p.Phe684Leu) c.194+78334T>C c.1789T>C (p.Phe597Leu) | |
| 13 | g.48459777T>G | CA388166847 | RB1 | c.2050T>G (p.Phe684Val) c.194+78334T>G c.1789T>G (p.Phe597Val) | |
| 13 | g.48459778T>A | CA388166848 | RB1 | c.2051T>A (p.Phe684Tyr) c.194+78335T>A c.1790T>A (p.Phe597Tyr) | |
| 13 | g.48459778T>C | CA388166849 | RB1 | c.2051T>C (p.Phe684Ser) c.194+78335T>C c.1790T>C (p.Phe597Ser) | ClinVar |
| 13 | g.48459778T>G | CA388166850 | RB1 | c.2051T>G (p.Phe684Cys) c.194+78335T>G c.1790T>G (p.Phe597Cys) | |
| 13 | g.48459779C>A | CA388166851 | RB1 | c.2052C>A (p.Phe684Leu) c.194+78336C>A c.1791C>A (p.Phe597Leu) | dbSNP |
| 13 | g.48459779C= | CA2090008102 | RB1 | c.2052C= (p.Phe684=) c.194+78336C= c.1791C= (p.Phe597=) | |
| 13 | g.48459779C>G | CA388166852 | RB1 | c.2052C>G (p.Phe684Leu) c.194+78336C>G c.1791C>G (p.Phe597Leu) | dbSNP |
| 13 | g.48459779C>T | CA033830 | RB1 | c.2052C>T (p.Phe684=) c.194+78336C>T c.1791C>T (p.Phe597=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48459780C>A | CA388166853 | RB1 | c.2053C>A (p.Gln685Lys) c.194+78337C>A c.1792C>A (p.Gln598Lys) | dbSNP |
| 13 | g.48459780C= | CA2090008110 | RB1 | c.2053C= (p.Gln685=) c.194+78337C= c.1792C= (p.Gln598=) | |
| 13 | g.48459780C>G | CA388166854 | RB1 | c.2053C>G (p.Gln685Glu) c.194+78337C>G c.1792C>G (p.Gln598Glu) | dbSNP |
| 13 | g.48459780C>T | CA10583160 | RB1 | c.2053C>T (p.Gln685Ter) c.194+78337C>T c.1792C>T (p.Gln598Ter) | ClinVar dbSNP COSMIC |
| 13 | g.48459781A>C | CA388166855 | RB1 | c.2054A>C (p.Gln685Pro) c.194+78338A>C c.1793A>C (p.Gln598Pro) | |
| 13 | g.48459781A>G | CA388166856 | RB1 | c.2054A>G (p.Gln685Arg) c.194+78338A>G c.1793A>G (p.Gln598Arg) | dbSNP gnomAD v4 |
| 13 | g.48459781A>T | CA388166857 | RB1 | c.2054A>T (p.Gln685Leu) c.194+78338A>T c.1793A>T (p.Gln598Leu) | dbSNP |
| 13 | g.48459781delinsCC | CA2695218652 | RB1 | c.2054delinsCC (p.Gln685ProfsTer7) c.194+78338delinsCC c.1793delinsCC (p.Gln598ProfsTer7) | |
| 13 | g.48459781_48459782delinsAG | CA2090008114 | RB1 | c.2054_2055delinsAG (p.Gln685=) c.194+78338_194+78339delinsAG c.1793_1794delinsAG (p.Gln598=) | |
| 13 | g.48459782del | CA645369598 | RB1 | c.2055del (p.Gln685HisfsTer11) c.194+78339del c.1794del (p.Gln598HisfsTer11) | ClinVar dbSNP |
| 13 | g.48459782G>A | CA483559031 | RB1 | c.2055G>A (p.Gln685=) c.194+78339G>A c.1794G>A (p.Gln598=) | ClinVar dbSNP |
| 13 | g.48459782G>C | CA388166858 | RB1 | c.2055G>C (p.Gln685His) c.194+78339G>C c.1794G>C (p.Gln598His) | dbSNP |
| 13 | g.48459782G>T | CA388166859 | RB1 | c.2055G>T (p.Gln685His) c.194+78339G>T c.1794G>T (p.Gln598His) | |
| 13 | g.48459782_48459783del | CA2695218653 | RB1 | c.2055_2056del (p.Thr687ProfsTer4) c.194+78339_194+78340del c.1794_1795del (p.Thr600ProfsTer4) | |
| 13 | g.48459783C>A | CA388166862 | RB1 | c.2056C>A (p.His686Asn) c.194+78340C>A c.1795C>A (p.His599Asn) | ClinVar dbSNP |
| 13 | g.48459783C>G | CA388166861 | RB1 | c.2056C>G (p.His686Asp) c.194+78340C>G c.1795C>G (p.His599Asp) | dbSNP |
| 13 | g.48459783C>T | CA388166860 | RB1 | c.2056C>T (p.His686Tyr) c.194+78340C>T c.1795C>T (p.His599Tyr) | dbSNP COSMIC |
| 13 | g.48459784A= | CA2090008121 | RB1 | c.2057A= (p.His686=) c.194+78341A= c.1796A= (p.His599=) | |
| 13 | g.48459784A>C | CA388166863 | RB1 | c.2057A>C (p.His686Pro) c.194+78341A>C c.1796A>C (p.His599Pro) | dbSNP |
| 13 | g.48459784A>G | CA388166864 | RB1 | c.2057A>G (p.His686Arg) c.194+78341A>G c.1796A>G (p.His599Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48459784A>T | CA388166865 | RB1 | c.2057A>T (p.His686Leu) c.194+78341A>T c.1796A>T (p.His599Leu) | dbSNP |
| 13 | g.48459785C>A | CA388166866 | RB1 | c.2058C>A (p.His686Gln) c.194+78342C>A c.1797C>A (p.His599Gln) | ClinVar dbSNP |
| 13 | g.48459785C= | CA2090008124 | RB1 | c.2058C= (p.His686=) c.194+78342C= c.1797C= (p.His599=) | |
| 13 | g.48459785C>G | CA388166867 | RB1 | c.2058C>G (p.His686Gln) c.194+78342C>G c.1797C>G (p.His599Gln) | dbSNP |
| 13 | g.48459785C>T | CA033838 | RB1 | c.2058C>T (p.His686=) c.194+78342C>T c.1797C>T (p.His599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48459786_48459789del | CA2695218654 | RB1 | c.2059_2062del (p.Thr687CysfsTer8) c.194+78343_194+78346del c.1798_1801del (p.Thr600CysfsTer8) | |
| 13 | g.48459786A>C | CA388166870 | RB1 | c.2059A>C (p.Thr687Pro) c.194+78343A>C c.1798A>C (p.Thr600Pro) | dbSNP |
| 13 | g.48459786A>G | CA388166868 | RB1 | c.2059A>G (p.Thr687Ala) c.194+78343A>G c.1798A>G (p.Thr600Ala) | ClinVar |
| 13 | g.48459786A>T | CA388166869 | RB1 | c.2059A>T (p.Thr687Ser) c.194+78343A>T c.1798A>T (p.Thr600Ser) | dbSNP |
| 13 | g.48459786_48459793dup | CA2697551907 | RB1 | c.2059_2066dup (p.Asn690ProfsTer9) c.194+78343_194+78350dup c.1798_1805dup (p.Asn603ProfsTer9) | ClinVar |
| 13 | g.48459787C>A | CA388166871 | RB1 | c.2060C>A (p.Thr687Asn) c.194+78344C>A c.1799C>A (p.Thr600Asn) | dbSNP |
| 13 | g.48459787C>G | CA388166872 | RB1 | c.2060C>G (p.Thr687Ser) c.194+78344C>G c.1799C>G (p.Thr600Ser) | ClinVar dbSNP |
| 13 | g.48459787C>T | CA388166873 | RB1 | c.2060C>T (p.Thr687Ile) c.194+78344C>T c.1799C>T (p.Thr600Ile) | dbSNP COSMIC |
| 13 | g.48459789del | CA2695218656 | RB1 | c.2062del (p.Leu688CysfsTer8) c.194+78346del c.1801del (p.Leu601CysfsTer8) | |
| 13 | g.48459788C>A | CA483559032 | RB1 | c.2061C>A (p.Thr687=) c.194+78345C>A c.1800C>A (p.Thr600=) | dbSNP |
| 13 | g.48459788C= | CA2090008128 | RB1 | c.2061C= (p.Thr687=) c.194+78345C= c.1800C= (p.Thr600=) | |
| 13 | g.48459788C>G | CA483559033 | RB1 | c.2061C>G (p.Thr687=) c.194+78345C>G c.1800C>G (p.Thr600=) | dbSNP |
| 13 | g.48459788C>T | CA033872 | RB1 | c.2061C>T (p.Thr687=) c.194+78345C>T c.1800C>T (p.Thr600=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48459789C>A | CA388166874 | RB1 | c.2062C>A (p.Leu688Met) c.194+78346C>A c.1801C>A (p.Leu601Met) | dbSNP |
| 13 | g.48459789C>G | CA388166875 | RB1 | c.2062C>G (p.Leu688Val) c.194+78346C>G c.1801C>G (p.Leu601Val) | dbSNP |
| 13 | g.48459789C>T | CA483559034 | RB1 | c.2062C>T (p.Leu688=) c.194+78346C>T c.1801C>T (p.Leu601=) | ClinVar dbSNP |
| 13 | g.48459790T>A | CA388166876 | RB1 | c.2063T>A (p.Leu688Gln) c.194+78347T>A c.1802T>A (p.Leu601Gln) | dbSNP |
| 13 | g.48459790T>C | CA388166877 | RB1 | c.2063T>C (p.Leu688Pro) c.194+78347T>C c.1802T>C (p.Leu601Pro) | dbSNP COSMIC |
| 13 | g.48459790T>G | CA388166878 | RB1 | c.2063T>G (p.Leu688Arg) c.194+78347T>G c.1802T>G (p.Leu601Arg) | |
| 13 | g.48459791G>A | CA483559035 | RB1 | c.2064G>A (p.Leu688=) c.194+78348G>A c.1803G>A (p.Leu601=) | ClinVar dbSNP |
| 13 | g.48459791G>C | CA483559036 | RB1 | c.2064G>C (p.Leu688=) c.194+78348G>C c.1803G>C (p.Leu601=) | dbSNP |
| 13 | g.48459791G= | CA2090008134 | RB1 | c.2064G= (p.Leu688=) c.194+78348G= c.1803G= (p.Leu601=) | |
| 13 | g.48459791G>T | CA483559037 | RB1 | c.2064G>T (p.Leu688=) c.194+78348G>T c.1803G>T (p.Leu601=) | |
| 13 | g.48459791_48459800del | CA645571619 | RB1 | c.2064_2073del (p.Gln689MetfsTer4) c.194+78348_194+78357del c.1803_1812del (p.Gln602MetfsTer4) | COSMIC COSMIC |
| 13 | g.48459792C>A | CA388166879 | RB1 | c.2065C>A (p.Gln689Lys) c.194+78349C>A c.1804C>A (p.Gln602Lys) | dbSNP |
| 13 | g.48459792C= | CA2090008138 | RB1 | c.2065C= (p.Gln689=) c.194+78349C= c.1804C= (p.Gln602=) | |
| 13 | g.48459792C>G | CA388166880 | RB1 | c.2065C>G (p.Gln689Glu) c.194+78349C>G c.1804C>G (p.Gln602Glu) | dbSNP |
| 13 | g.48459792C>T | CA388166881 | RB1 | c.2065C>T (p.Gln689Ter) c.194+78349C>T c.1804C>T (p.Gln602Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48459793A= | CA2090008143 | RB1 | c.2066A= (p.Gln689=) c.194+78350A= c.1805A= (p.Gln602=) | |
| 13 | g.48459793A>C | CA388166882 | RB1 | c.2066A>C (p.Gln689Pro) c.194+78350A>C c.1805A>C (p.Gln602Pro) | |
| 13 | g.48459793A>G | CA388166884 | RB1 | c.2066A>G (p.Gln689Arg) c.194+78350A>G c.1805A>G (p.Gln602Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48459793A>T | CA388166883 | RB1 | c.2066A>T (p.Gln689Leu) c.194+78350A>T c.1805A>T (p.Gln602Leu) | dbSNP |
| 13 | g.48459793_48459806delinsAGAATGAGTATGAA | CA2090008142 | RB1 | c.2066_2079delinsAGAATGAGTATGAA (p.Gln689=) c.194+78350_194+78363delinsAGAATGAGTATGAA c.1805_1818delinsAGAATGAGTATGAA (p.Gln602=) | |
| 13 | g.48459794G>A | CA483559038 | RB1 | c.2067G>A (p.Gln689=) c.194+78351G>A c.1806G>A (p.Gln602=) | dbSNP |
| 13 | g.48459794G>C | CA388166885 | RB1 | c.2067G>C (p.Gln689His) c.194+78351G>C c.1806G>C (p.Gln602His) | dbSNP |
| 13 | g.48459794G>T | CA388166886 | RB1 | c.2067G>T (p.Gln689His) c.194+78351G>T c.1806G>T (p.Gln602His) | |
| 13 | g.48459794_48459806delinsCAC | CA026419 | RB1 | c.2067_2079delinsCAC (p.Gln689HisfsTer4) c.194+78351_194+78363delinsCAC c.1806_1818delinsCAC (p.Gln602HisfsTer4) | ClinVar dbSNP |