| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48456214C>A | CA388165707 | RB1 | c.1825C>A (p.Pro609Thr) c.194+74771C>A n.524C>A c.1564C>A (p.Pro522Thr) | dbSNP |
| 13 | g.48456214C>G | CA388165708 | RB1 | c.1825C>G (p.Pro609Ala) c.194+74771C>G n.524C>G c.1564C>G (p.Pro522Ala) | dbSNP |
| 13 | g.48456214C>T | CA388165709 | RB1 | c.1825C>T (p.Pro609Ser) c.194+74771C>T n.524C>T c.1564C>T (p.Pro522Ser) | dbSNP |
| 13 | g.48456215del | CA2695218545 | RB1 | c.1826del (p.Pro609LeufsTer2) c.194+74772del n.525del c.1565del (p.Pro522LeufsTer2) | |
| 13 | g.48456215C>A | CA388165710 | RB1 | c.1826C>A (p.Pro609His) c.194+74772C>A n.525C>A c.1565C>A (p.Pro522His) | dbSNP |
| 13 | g.48456215C>G | CA388165711 | RB1 | c.1826C>G (p.Pro609Arg) c.194+74772C>G n.525C>G c.1565C>G (p.Pro522Arg) | dbSNP |
| 13 | g.48456215C>T | CA388165712 | RB1 | c.1826C>T (p.Pro609Leu) c.194+74772C>T n.525C>T c.1565C>T (p.Pro522Leu) | ClinVar dbSNP |
| 13 | g.48456216T>A | CA483558293 | RB1 | c.1827T>A (p.Pro609=) c.194+74773T>A n.526T>A c.1566T>A (p.Pro522=) | dbSNP |
| 13 | g.48456216T>C | CA483558294 | RB1 | c.1827T>C (p.Pro609=) c.194+74773T>C n.526T>C c.1566T>C (p.Pro522=) | ClinVar dbSNP |
| 13 | g.48456216T>G | CA483558295 | RB1 | c.1827T>G (p.Pro609=) c.194+74773T>G n.526T>G c.1566T>G (p.Pro522=) | |
| 13 | g.48456216T= | CA2090016355 | RB1 | c.1827T= (p.Pro609=) c.194+74773T= n.526T= c.1566T= (p.Pro522=) | |
| 13 | g.48456217_48456218del | CA2695218546 | RB1 | c.1828_1829del (p.Val610LysfsTer?) c.194+74774_194+74775del n.527_528del c.1567_1568del (p.Val523LysfsTer?) | |
| 13 | g.48456217G>A | CA388165714 | RB1 | c.1828G>A (p.Val610Ile) c.194+74774G>A n.527G>A c.1567G>A (p.Val523Ile) | ClinVar dbSNP |
| 13 | g.48456217G>C | CA032771 | RB1 | c.1828G>C (p.Val610Leu) c.194+74774G>C n.527G>C c.1567G>C (p.Val523Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456217G= | CA2090016358 | RB1 | c.1828G= (p.Val610=) c.194+74774G= n.527G= c.1567G= (p.Val523=) | |
| 13 | g.48456217G>T | CA388165713 | RB1 | c.1828G>T (p.Val610Leu) c.194+74774G>T n.527G>T c.1567G>T (p.Val523Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456218T>A | CA388165715 | RB1 | c.1829T>A (p.Val610Glu) c.194+74775T>A n.528T>A c.1568T>A (p.Val523Glu) | |
| 13 | g.48456218T>C | CA249306654 | RB1 | c.1829T>C (p.Val610Ala) c.194+74775T>C n.528T>C c.1568T>C (p.Val523Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48456218T>G | CA388165716 | RB1 | c.1829T>G (p.Val610Gly) c.194+74775T>G n.528T>G c.1568T>G (p.Val523Gly) | |
| 13 | g.48456218T= | CA2090016364 | RB1 | c.1829T= (p.Val610=) c.194+74775T= n.528T= c.1568T= (p.Val523=) | |
| 13 | g.48456219_48456220insCTTA | CA645571598 | RB1 | c.1830_1831insCTTA (p.Arg611LeufsTer?) c.194+74776_194+74777insCTTA n.529_530insCTTA c.1569_1570insCTTA (p.Arg524LeufsTer?) | COSMIC COSMIC |
| 13 | g.48456219A= | CA2090016368 | RB1 | c.1830A= (p.Val610=) c.194+74776A= n.529A= c.1569A= (p.Val523=) | |
| 13 | g.48456219A>C | CA483558297 | RB1 | c.1830A>C (p.Val610=) c.194+74776A>C n.529A>C c.1569A>C (p.Val523=) | |
| 13 | g.48456219A>G | CA249306657 | RB1 | c.1830A>G (p.Val610=) c.194+74776A>G n.529A>G c.1569A>G (p.Val523=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48456219A>T | CA483558298 | RB1 | c.1830A>T (p.Val610=) c.194+74776A>T n.529A>T c.1569A>T (p.Val523=) | dbSNP |
| 13 | g.48456220del | CA2622984948 | RB1 | c.1831del (p.Arg611AspfsTer12) c.194+74777del n.530del c.1570del (p.Arg524AspfsTer12) | gnomAD v4 |
| 13 | g.48456220A>C | CA483558299 | RB1 | c.1831A>C (p.Arg611=) c.194+74777A>C n.530A>C c.1570A>C (p.Arg524=) | |
| 13 | g.48456220A>G | CA388165717 | RB1 | c.1831A>G (p.Arg611Gly) c.194+74777A>G n.530A>G c.1570A>G (p.Arg524Gly) | |
| 13 | g.48456220A>T | CA388165718 | RB1 | c.1831A>T (p.Arg611Ter) c.194+74777A>T n.530A>T c.1570A>T (p.Arg524Ter) | dbSNP |
| 13 | g.48456221G>A | CA388165719 | RB1 | c.1832G>A (p.Arg611Lys) c.194+74778G>A n.531G>A c.1571G>A (p.Arg524Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48456221G>C | CA388165721 | RB1 | c.1832G>C (p.Arg611Thr) c.194+74778G>C n.531G>C c.1571G>C (p.Arg524Thr) | dbSNP |
| 13 | g.48456221G= | CA2090016371 | RB1 | c.1832G= (p.Arg611=) c.194+74778G= n.531G= c.1571G= (p.Arg524=) | |
| 13 | g.48456221G>T | CA388165720 | RB1 | c.1832G>T (p.Arg611Ile) c.194+74778G>T n.531G>T c.1571G>T (p.Arg524Ile) | ClinVar dbSNP |
| 13 | g.48456222del | CA2695218547 | RB1 | c.1833del (p.Arg611SerfsTer12) c.194+74779del n.532del c.1572del (p.Arg524SerfsTer12) | |
| 13 | g.48456222A>C | CA388165722 | RB1 | c.1833A>C (p.Arg611Ser) c.194+74779A>C n.532A>C c.1572A>C (p.Arg524Ser) | |
| 13 | g.48456222A>G | CA483558303 | RB1 | c.1833A>G (p.Arg611=) c.194+74779A>G n.532A>G c.1572A>G (p.Arg524=) | ClinVar |
| 13 | g.48456222A>T | CA388165723 | RB1 | c.1833A>T (p.Arg611Ser) c.194+74779A>T n.532A>T c.1572A>T (p.Arg524Ser) | dbSNP COSMIC COSMIC |
| 13 | g.48456223T>A | CA388165724 | RB1 | c.1834T>A (p.Ser612Thr) c.194+74780T>A n.533T>A c.1573T>A (p.Ser525Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48456223T>C | CA388165725 | RB1 | c.1834T>C (p.Ser612Pro) c.194+74780T>C n.533T>C c.1573T>C (p.Ser525Pro) | COSMIC |
| 13 | g.48456223T>G | CA388165726 | RB1 | c.1834T>G (p.Ser612Ala) c.194+74780T>G n.533T>G c.1573T>G (p.Ser525Ala) | |
| 13 | g.48456223T= | CA2090016373 | RB1 | c.1834T= (p.Ser612=) c.194+74780T= n.533T= c.1573T= (p.Ser525=) | |
| 13 | g.48456224C>A | CA388165727 | RB1 | c.1835C>A (p.Ser612Tyr) c.194+74781C>A n.534C>A c.1574C>A (p.Ser525Tyr) | |
| 13 | g.48456224C= | CA2090016376 | RB1 | c.1835C= (p.Ser612=) c.194+74781C= n.534C= c.1574C= (p.Ser525=) | |
| 13 | g.48456224C>G | CA388165728 | RB1 | c.1835C>G (p.Ser612Cys) c.194+74781C>G n.534C>G c.1574C>G (p.Ser525Cys) | dbSNP |
| 13 | g.48456224C>T | CA388165729 | RB1 | c.1835C>T (p.Ser612Phe) c.194+74781C>T n.534C>T c.1574C>T (p.Ser525Phe) | dbSNP |
| 13 | g.48456225T>A | CA483558307 | RB1 | c.1836T>A (p.Ser612=) c.194+74782T>A n.535T>A c.1575T>A (p.Ser525=) | |
| 13 | g.48456225T>C | CA483558306 | RB1 | c.1836T>C (p.Ser612=) c.194+74782T>C n.535T>C c.1575T>C (p.Ser525=) | ClinVar |
| 13 | g.48456225T>G | CA483558305 | RB1 | c.1836T>G (p.Ser612=) c.194+74782T>G n.535T>G c.1575T>G (p.Ser525=) | ClinVar dbSNP |
| 13 | g.48456225T= | CA2090016378 | RB1 | c.1836T= (p.Ser612=) c.194+74782T= n.535T= c.1575T= (p.Ser525=) | |
| 13 | g.48456226C>A | CA388165730 | RB1 | c.1837C>A (p.Pro613Thr) c.194+74783C>A n.536C>A c.1576C>A (p.Pro526Thr) | dbSNP |
| 13 | g.48456226C= | CA2090016382 | RB1 | c.1837C= (p.Pro613=) c.194+74783C= n.536C= c.1576C= (p.Pro526=) | |
| 13 | g.48456226C>G | CA388165731 | RB1 | c.1837C>G (p.Pro613Ala) c.194+74783C>G n.536C>G c.1576C>G (p.Pro526Ala) | ClinVar dbSNP |
| 13 | g.48456226C>T | CA388165732 | RB1 | c.1837C>T (p.Pro613Ser) c.194+74783C>T n.536C>T c.1576C>T (p.Pro526Ser) | ClinVar dbSNP |
| 13 | g.48456227C>A | CA388165735 | RB1 | c.1838C>A (p.Pro613Gln) c.194+74784C>A n.537C>A c.1577C>A (p.Pro526Gln) | dbSNP |
| 13 | g.48456227C= | CA2090016387 | RB1 | c.1838C= (p.Pro613=) c.194+74784C= n.537C= c.1577C= (p.Pro526=) | |
| 13 | g.48456227C>G | CA388165734 | RB1 | c.1838C>G (p.Pro613Arg) c.194+74784C>G n.537C>G c.1577C>G (p.Pro526Arg) | |
| 13 | g.48456227C>T | CA388165733 | RB1 | c.1838C>T (p.Pro613Leu) c.194+74784C>T n.537C>T c.1577C>T (p.Pro526Leu) | ClinVar dbSNP |
| 13 | g.48456228A= | CA2090016392 | RB1 | c.1839A= (p.Pro613=) c.194+74785A= n.538A= c.1578A= (p.Pro526=) | |
| 13 | g.48456228A>C | CA483558311 | RB1 | c.1839A>C (p.Pro613=) c.194+74785A>C n.538A>C c.1578A>C (p.Pro526=) | |
| 13 | g.48456228A>G | CA032790 | RB1 | c.1839A>G (p.Pro613=) c.194+74785A>G n.538A>G c.1578A>G (p.Pro526=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456228A>T | CA483558312 | RB1 | c.1839A>T (p.Pro613=) c.194+74785A>T n.538A>T c.1578A>T (p.Pro526=) | dbSNP |
| 13 | g.48456230del | CA2695218548 | RB1 | c.1841del (p.Lys614ArgfsTer9) c.194+74787del n.540del c.1580del (p.Lys527ArgfsTer9) | |
| 13 | g.48456229A= | CA2090016395 | RB1 | c.1840A= (p.Lys614=) c.194+74786A= n.539A= c.1579A= (p.Lys527=) | |
| 13 | g.48456229A>C | CA388165736 | RB1 | c.1840A>C (p.Lys614Gln) c.194+74786A>C n.539A>C c.1579A>C (p.Lys527Gln) | |
| 13 | g.48456229A>G | CA032808 | RB1 | c.1840A>G (p.Lys614Glu) c.194+74786A>G n.539A>G c.1579A>G (p.Lys527Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48456229A>T | CA388165737 | RB1 | c.1840A>T (p.Lys614Ter) c.194+74786A>T n.539A>T c.1579A>T (p.Lys527Ter) | dbSNP COSMIC COSMIC |
| 13 | g.48456230A>C | CA388165738 | RB1 | c.1841A>C (p.Lys614Thr) c.194+74787A>C n.540A>C c.1580A>C (p.Lys527Thr) | |
| 13 | g.48456230A>G | CA388165739 | RB1 | c.1841A>G (p.Lys614Arg) c.194+74787A>G n.540A>G c.1580A>G (p.Lys527Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456230A>T | CA388165740 | RB1 | c.1841A>T (p.Lys614Met) c.194+74787A>T n.540A>T c.1580A>T (p.Lys527Met) | |
| 13 | g.48456231G>A | CA483558315 | RB1 | c.1842G>A (p.Lys614=) c.194+74788G>A n.541G>A c.1581G>A (p.Lys527=) | |
| 13 | g.48456231G>C | CA388165741 | RB1 | c.1842G>C (p.Lys614Asn) c.194+74788G>C n.541G>C c.1581G>C (p.Lys527Asn) | |
| 13 | g.48456231G= | CA2090016398 | RB1 | c.1842G= (p.Lys614=) c.194+74788G= n.541G= c.1581G= (p.Lys527=) | |
| 13 | g.48456231G>T | CA032821 | RB1 | c.1842G>T (p.Lys614Asn) c.194+74788G>T n.541G>T c.1581G>T (p.Lys527Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456232A>C | CA388165742 | RB1 | c.1843A>C (p.Lys615Gln) c.194+74789A>C n.542A>C c.1582A>C (p.Lys528Gln) | |
| 13 | g.48456232A>G | CA388165743 | RB1 | c.1843A>G (p.Lys615Glu) c.194+74789A>G n.542A>G c.1582A>G (p.Lys528Glu) | ClinVar gnomAD v4 |
| 13 | g.48456232A>T | CA388165744 | RB1 | c.1843A>T (p.Lys615Ter) c.194+74789A>T n.542A>T c.1582A>T (p.Lys528Ter) | |
| 13 | g.48456237dup | CA645571599 | RB1 | c.1848dup (p.Gly617ArgfsTer?) c.194+74794dup n.547dup c.1587dup (p.Gly530ArgfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 13 | g.48456237del | CA2695218549 | RB1 | c.1848del (p.Gly617ValfsTer6) c.194+74794del n.547del c.1587del (p.Gly530ValfsTer6) | |
| 13 | g.48456233_48456237del | CA645571600 | RB1 | c.1844_1848del (p.Lys615ArgfsTer?) c.194+74790_194+74794del n.543_547del c.1583_1587del (p.Lys528ArgfsTer?) | COSMIC |
| 13 | g.48456233A= | CA2090016404 | RB1 | c.1844A= (p.Lys615=) c.194+74790A= n.543A= c.1583A= (p.Lys528=) | |
| 13 | g.48456233A>C | CA388165745 | RB1 | c.1844A>C (p.Lys615Thr) c.194+74790A>C n.543A>C c.1583A>C (p.Lys528Thr) | |
| 13 | g.48456233A>G | CA388165746 | RB1 | c.1844A>G (p.Lys615Arg) c.194+74790A>G n.543A>G c.1583A>G (p.Lys528Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48456233A>T | CA388165747 | RB1 | c.1844A>T (p.Lys615Ile) c.194+74790A>T n.543A>T c.1583A>T (p.Lys528Ile) | |
| 13 | g.48456234A>C | CA388165748 | RB1 | c.1845A>C (p.Lys615Asn) c.194+74791A>C n.544A>C c.1584A>C (p.Lys528Asn) | |
| 13 | g.48456234A>G | CA483558327 | RB1 | c.1845A>G (p.Lys615=) c.194+74791A>G n.544A>G c.1584A>G (p.Lys528=) | ClinVar dbSNP |
| 13 | g.48456234A>T | CA388165749 | RB1 | c.1845A>T (p.Lys615Asn) c.194+74791A>T n.544A>T c.1584A>T (p.Lys528Asn) | |
| 13 | g.48456235A>C | CA388165752 | RB1 | c.1846A>C (p.Lys616Gln) c.194+74792A>C n.545A>C c.1585A>C (p.Lys529Gln) | |
| 13 | g.48456235A>G | CA388165751 | RB1 | c.1846A>G (p.Lys616Glu) c.194+74792A>G n.545A>G c.1585A>G (p.Lys529Glu) | |
| 13 | g.48456235A>T | CA388165750 | RB1 | c.1846A>T (p.Lys616Ter) c.194+74792A>T n.545A>T c.1585A>T (p.Lys529Ter) | dbSNP |
| 13 | g.48456236A>C | CA388165753 | RB1 | c.1847A>C (p.Lys616Thr) c.194+74793A>C n.546A>C c.1586A>C (p.Lys529Thr) | |
| 13 | g.48456236A>G | CA388165754 | RB1 | c.1847A>G (p.Lys616Arg) c.194+74793A>G n.546A>G c.1586A>G (p.Lys529Arg) | ClinVar |
| 13 | g.48456236A>T | CA388165755 | RB1 | c.1847A>T (p.Lys616Ile) c.194+74793A>T n.546A>T c.1586A>T (p.Lys529Ile) | |
| 13 | g.48456236delinsTT | CA2695218550 | RB1 | c.1847delinsTT (p.Lys616IlefsTer?) c.194+74793delinsTT n.546delinsTT c.1586delinsTT (p.Lys529IlefsTer?) | |
| 13 | g.48456237A>C | CA388165756 | RB1 | c.1848A>C (p.Lys616Asn) c.194+74794A>C n.547A>C c.1587A>C (p.Lys529Asn) | |
| 13 | g.48456237A>G | CA483558338 | RB1 | c.1848A>G (p.Lys616=) c.194+74794A>G n.547A>G c.1587A>G (p.Lys529=) | ClinVar dbSNP |
| 13 | g.48456237A>T | CA388165757 | RB1 | c.1848A>T (p.Lys616Asn) c.194+74794A>T n.547A>T c.1587A>T (p.Lys529Asn) | |
| 13 | g.48456238G>A | CA388165758 | RB1 | c.1849G>A (p.Gly617Ser) c.194+74795G>A n.548G>A c.1588G>A (p.Gly530Ser) | ClinVar dbSNP |
| 13 | g.48456238G>C | CA388165759 | RB1 | c.1849G>C (p.Gly617Arg) c.194+74795G>C n.548G>C c.1588G>C (p.Gly530Arg) | ClinVar dbSNP |
| 13 | g.48456238G>T | CA388165760 | RB1 | c.1849G>T (p.Gly617Cys) c.194+74795G>T n.548G>T c.1588G>T (p.Gly530Cys) | |
| 13 | g.48456239del | CA2695218551 | RB1 | c.1850del (p.Gly617ValfsTer6) c.194+74796del n.549del c.1589del (p.Gly530ValfsTer6) | |
| 13 | g.48456239G>A | CA388165761 | RB1 | c.1850G>A (p.Gly617Asp) c.194+74796G>A n.549G>A c.1589G>A (p.Gly530Asp) | dbSNP |
| 13 | g.48456239G>C | CA388165762 | RB1 | c.1850G>C (p.Gly617Ala) c.194+74796G>C n.549G>C c.1589G>C (p.Gly530Ala) | ClinVar dbSNP |
| 13 | g.48456239G>T | CA388165763 | RB1 | c.1850G>T (p.Gly617Val) c.194+74796G>T n.549G>T c.1589G>T (p.Gly530Val) | ClinVar dbSNP |
| 13 | g.48456240T>A | CA483558347 | RB1 | c.1851T>A (p.Gly617=) c.194+74797T>A n.550T>A c.1590T>A (p.Gly530=) | dbSNP |
| 13 | g.48456240T>C | CA483558349 | RB1 | c.1851T>C (p.Gly617=) c.194+74797T>C n.550T>C c.1590T>C (p.Gly530=) | ClinVar dbSNP |
| 13 | g.48456240T>G | CA483558351 | RB1 | c.1851T>G (p.Gly617=) c.194+74797T>G n.550T>G c.1590T>G (p.Gly530=) | |
| 13 | g.48456241del | CA645571601 | RB1 | c.1852del (p.Ser618GlnfsTer5) c.194+74798del n.551del c.1591del (p.Ser531GlnfsTer5) | COSMIC |
| 13 | g.48456241T>A | CA388165764 | RB1 | c.1852T>A (p.Ser618Thr) c.194+74798T>A n.551T>A c.1591T>A (p.Ser531Thr) | dbSNP |
| 13 | g.48456241T>C | CA388165765 | RB1 | c.1852T>C (p.Ser618Pro) c.194+74798T>C n.551T>C c.1591T>C (p.Ser531Pro) | dbSNP |
| 13 | g.48456241T>G | CA388165766 | RB1 | c.1852T>G (p.Ser618Ala) c.194+74798T>G n.551T>G c.1591T>G (p.Ser531Ala) | |
| 13 | g.48456242_48456246del | CA2580614721 | RB1 | c.1853_1857del (p.Ser618TyrfsTer?) c.194+74799_194+74803del n.552_556del c.1592_1596del (p.Ser531TyrfsTer?) | ClinVar |
| 13 | g.48456242C>A | CA249306666 | RB1 | c.1853C>A (p.Ser618Ter) c.194+74799C>A n.552C>A c.1592C>A (p.Ser531Ter) | dbSNP COSMIC COSMIC |
| 13 | g.48456242C= | CA2090016409 | RB1 | c.1853C= (p.Ser618=) c.194+74799C= n.552C= c.1592C= (p.Ser531=) | |
| 13 | g.48456242C>G | CA388165768 | RB1 | c.1853C>G (p.Ser618Ter) c.194+74799C>G n.552C>G c.1592C>G (p.Ser531Ter) | ClinVar dbSNP |
| 13 | g.48456242C>T | CA388165767 | RB1 | c.1853C>T (p.Ser618Leu) c.194+74799C>T n.552C>T c.1592C>T (p.Ser531Leu) | dbSNP |
| 13 | g.48456243A>C | CA483558365 | RB1 | c.1854A>C (p.Ser618=) c.194+74800A>C n.553A>C c.1593A>C (p.Ser531=) | |
| 13 | g.48456243A>G | CA483558364 | RB1 | c.1854A>G (p.Ser618=) c.194+74800A>G n.553A>G c.1593A>G (p.Ser531=) | |
| 13 | g.48456243A>T | CA483558362 | RB1 | c.1854A>T (p.Ser618=) c.194+74800A>T n.553A>T c.1593A>T (p.Ser531=) | |
| 13 | g.48456244A>C | CA388165769 | RB1 | c.1855A>C (p.Thr619Pro) c.194+74801A>C n.554A>C c.1594A>C (p.Thr532Pro) | |
| 13 | g.48456244A>G | CA388165770 | RB1 | c.1855A>G (p.Thr619Ala) c.194+74801A>G n.554A>G c.1594A>G (p.Thr532Ala) | ClinVar |
| 13 | g.48456244A>T | CA388165771 | RB1 | c.1855A>T (p.Thr619Ser) c.194+74801A>T n.554A>T c.1594A>T (p.Thr532Ser) | dbSNP |
| 13 | g.48456245C>A | CA388165772 | RB1 | c.1856C>A (p.Thr619Asn) c.194+74802C>A n.555C>A c.1595C>A (p.Thr532Asn) | |
| 13 | g.48456245C>G | CA388165773 | RB1 | c.1856C>G (p.Thr619Ser) c.194+74802C>G n.555C>G c.1595C>G (p.Thr532Ser) | dbSNP |
| 13 | g.48456245C>T | CA388165774 | RB1 | c.1856C>T (p.Thr619Ile) c.194+74802C>T n.555C>T c.1595C>T (p.Thr532Ile) | |
| 13 | g.48456246T>A | CA483558373 | RB1 | c.1857T>A (p.Thr619=) c.194+74803T>A n.556T>A c.1596T>A (p.Thr532=) | dbSNP |
| 13 | g.48456246T>C | CA483558374 | RB1 | c.1857T>C (p.Thr619=) c.194+74803T>C n.556T>C c.1596T>C (p.Thr532=) | |
| 13 | g.48456246T>G | CA483558376 | RB1 | c.1857T>G (p.Thr619=) c.194+74803T>G n.556T>G c.1596T>G (p.Thr532=) | ClinVar |
| 13 | g.48456247A>C | CA388165775 | RB1 | c.1858A>C (p.Thr620Pro) c.194+74804A>C n.557A>C c.1597A>C (p.Thr533Pro) | dbSNP |
| 13 | g.48456247A>G | CA388165776 | RB1 | c.1858A>G (p.Thr620Ala) c.194+74804A>G n.557A>G c.1597A>G (p.Thr533Ala) | ClinVar |
| 13 | g.48456247A>T | CA388165777 | RB1 | c.1858A>T (p.Thr620Ser) c.194+74804A>T n.557A>T c.1597A>T (p.Thr533Ser) | dbSNP |
| 13 | g.48456248C>A | CA388165778 | RB1 | c.1859C>A (p.Thr620Lys) c.194+74805C>A n.558C>A c.1598C>A (p.Thr533Lys) | ClinVar dbSNP |
| 13 | g.48456248C= | CA2090016414 | RB1 | c.1859C= (p.Thr620=) c.194+74805C= n.558C= c.1598C= (p.Thr533=) | |
| 13 | g.48456248C>G | CA388165779 | RB1 | c.1859C>G (p.Thr620Arg) c.194+74805C>G n.558C>G c.1598C>G (p.Thr533Arg) | dbSNP |
| 13 | g.48456248C>T | CA032831 | RB1 | c.1859C>T (p.Thr620Met) c.194+74805C>T n.558C>T c.1598C>T (p.Thr533Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.48456250_48456251del | CA2695218553 | RB1 | c.1861_1862del (p.Arg621CysfsTer?) c.194+74807_194+74808del n.560_561del c.1600_1601del (p.Arg534CysfsTer?) | |
| 13 | g.48456249G>A | CA032848 | RB1 | c.1860G>A (p.Thr620=) c.194+74806G>A n.559G>A c.1599G>A (p.Thr533=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.48456249G>C | CA483558389 | RB1 | c.1860G>C (p.Thr620=) c.194+74806G>C n.559G>C c.1599G>C (p.Thr533=) | dbSNP |
| 13 | g.48456249G= | CA2090016421 | RB1 | c.1860G= (p.Thr620=) c.194+74806G= n.559G= c.1599G= (p.Thr533=) | |
| 13 | g.48456249G>T | CA483558391 | RB1 | c.1860G>T (p.Thr620=) c.194+74806G>T n.559G>T c.1599G>T (p.Thr533=) | dbSNP |
| 13 | g.48456250C>A | CA026403 | RB1 | c.1861C>A (p.Arg621Ser) c.194+74807C>A n.560C>A c.1600C>A (p.Arg534Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.48456250C= | CA2090016434 | RB1 | c.1861C= (p.Arg621=) c.194+74807C= n.560C= c.1600C= (p.Arg534=) | |
| 13 | g.48456250C>G | CA032891 | RB1 | c.1861C>G (p.Arg621Gly) c.194+74807C>G n.560C>G c.1600C>G (p.Arg534Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456250C>T | CA032901 | RB1 | c.1861C>T (p.Arg621Cys) c.194+74807C>T n.560C>T c.1600C>T (p.Arg534Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.48456251G>A | CA026404 | RB1 | c.1862G>A (p.Arg621His) c.194+74808G>A n.561G>A c.1601G>A (p.Arg534His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48456251G>C | CA388165780 | RB1 | c.1862G>C (p.Arg621Pro) c.194+74808G>C n.561G>C c.1601G>C (p.Arg534Pro) | ClinVar dbSNP COSMIC |
| 13 | g.48456251G= | CA2090016449 | RB1 | c.1862G= (p.Arg621=) c.194+74808G= n.561G= c.1601G= (p.Arg534=) | |
| 13 | g.48456251G>T | CA249306690 | RB1 | c.1862G>T (p.Arg621Leu) c.194+74808G>T n.561G>T c.1601G>T (p.Arg534Leu) | dbSNP gnomAD v4 |
| 13 | g.48456252T>A | CA032942 | RB1 | c.1863T>A (p.Arg621=) c.194+74809T>A n.562T>A c.1602T>A (p.Arg534=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456252T>C | CA483558403 | RB1 | c.1863T>C (p.Arg621=) c.194+74809T>C n.562T>C c.1602T>C (p.Arg534=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48456252T>G | CA483558405 | RB1 | c.1863T>G (p.Arg621=) c.194+74809T>G n.562T>G c.1602T>G (p.Arg534=) | dbSNP |
| 13 | g.48456252T= | CA2090016455 | RB1 | c.1863T= (p.Arg621=) c.194+74809T= n.562T= c.1602T= (p.Arg534=) | |
| 13 | g.48456253G>A | CA388165781 | RB1 | c.1864G>A (p.Val622Ile) c.194+74810G>A n.563G>A c.1603G>A (p.Val535Ile) | ClinVar dbSNP |
| 13 | g.48456253G>C | CA388165782 | RB1 | c.1864G>C (p.Val622Leu) c.194+74810G>C n.563G>C c.1603G>C (p.Val535Leu) | |
| 13 | g.48456253G>T | CA388165783 | RB1 | c.1864G>T (p.Val622Leu) c.194+74810G>T n.563G>T c.1603G>T (p.Val535Leu) | ClinVar gnomAD v4 |
| 13 | g.48456254del | CA2739291793 | RB1 | c.1865del (p.Val622GlufsTer21) c.194+74811del n.564del c.1604del (p.Val535GlufsTer21) | |
| 13 | g.48456254T>A | CA388165784 | RB1 | c.1865T>A (p.Val622Glu) c.194+74811T>A n.564T>A c.1604T>A (p.Val535Glu) | dbSNP |
| 13 | g.48456254T>C | CA388165785 | RB1 | c.1865T>C (p.Val622Ala) c.194+74811T>C n.564T>C c.1604T>C (p.Val535Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48456254T>G | CA388165786 | RB1 | c.1865T>G (p.Val622Gly) c.194+74811T>G n.564T>G c.1604T>G (p.Val535Gly) | |
| 13 | g.48456254T= | CA2090016459 | RB1 | c.1865T= (p.Val622=) c.194+74811T= n.564T= c.1604T= (p.Val535=) | |
| 13 | g.48456255A= | CA2090016462 | RB1 | c.1866A= (p.Val622=) c.194+74812A= n.565A= c.1605A= (p.Val535=) | |
| 13 | g.48456255A>C | CA483558416 | RB1 | c.1866A>C (p.Val622=) c.194+74812A>C n.565A>C c.1605A>C (p.Val535=) | |
| 13 | g.48456255A>G | CA483558412 | RB1 | c.1866A>G (p.Val622=) c.194+74812A>G n.565A>G c.1605A>G (p.Val535=) | |
| 13 | g.48456255A>T | CA483558414 | RB1 | c.1866A>T (p.Val622=) c.194+74812A>T n.565A>T c.1605A>T (p.Val535=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48456256A>C | CA388165787 | RB1 | c.1867A>C (p.Asn623His) c.194+74813A>C n.566A>C c.1606A>C (p.Asn536His) | |
| 13 | g.48456256A>G | CA388165788 | RB1 | c.1867A>G (p.Asn623Asp) c.194+74813A>G n.566A>G c.1606A>G (p.Asn536Asp) | |
| 13 | g.48456256A>T | CA388165789 | RB1 | c.1867A>T (p.Asn623Tyr) c.194+74813A>T n.566A>T c.1606A>T (p.Asn536Tyr) | dbSNP |
| 13 | g.48456257A>C | CA388165792 | RB1 | c.1868A>C (p.Asn623Thr) c.194+74814A>C n.567A>C c.1607A>C (p.Asn536Thr) | dbSNP |
| 13 | g.48456257A>G | CA388165791 | RB1 | c.1868A>G (p.Asn623Ser) c.194+74814A>G n.567A>G c.1607A>G (p.Asn536Ser) | |
| 13 | g.48456257A>T | CA388165790 | RB1 | c.1868A>T (p.Asn623Ile) c.194+74814A>T n.567A>T c.1607A>T (p.Asn536Ile) | dbSNP |
| 13 | g.48456258T>A | CA388165793 | RB1 | c.1869T>A (p.Asn623Lys) c.194+74815T>A n.568T>A c.1608T>A (p.Asn536Lys) | dbSNP |
| 13 | g.48456258T>C | CA483558426 | RB1 | c.1869T>C (p.Asn623=) c.194+74815T>C n.568T>C c.1608T>C (p.Asn536=) | gnomAD v4 |
| 13 | g.48456258T>G | CA388165794 | RB1 | c.1869T>G (p.Asn623Lys) c.194+74815T>G n.568T>G c.1608T>G (p.Asn536Lys) | |
| 13 | g.48456259T>A | CA388165925 | RB1 | c.1870T>A (p.Ser624Thr) c.194+74816T>A n.569T>A c.1609T>A (p.Ser537Thr) | dbSNP |
| 13 | g.48456259T>C | CA388165927 | RB1 | c.1870T>C (p.Ser624Pro) c.194+74816T>C n.569T>C c.1609T>C (p.Ser537Pro) | |
| 13 | g.48456259T>G | CA388165929 | RB1 | c.1870T>G (p.Ser624Ala) c.194+74816T>G n.569T>G c.1609T>G (p.Ser537Ala) | |
| 13 | g.48456260C>A | CA388165931 | RB1 | c.1871C>A (p.Ser624Tyr) c.194+74817C>A n.570C>A c.1610C>A (p.Ser537Tyr) | |
| 13 | g.48456260C>G | CA388165933 | RB1 | c.1871C>G (p.Ser624Cys) c.194+74817C>G n.570C>G c.1610C>G (p.Ser537Cys) | dbSNP |
| 13 | g.48456260C>T | CA388165934 | RB1 | c.1871C>T (p.Ser624Phe) c.194+74817C>T n.570C>T c.1610C>T (p.Ser537Phe) | dbSNP gnomAD v4 |
| 13 | g.48456261T>A | CA483558849 | RB1 | c.1872T>A (p.Ser624=) c.194+74818T>A n.571T>A c.1611T>A (p.Ser537=) | dbSNP |
| 13 | g.48456261T>C | CA483558850 | RB1 | c.1872T>C (p.Ser624=) c.194+74818T>C n.571T>C c.1611T>C (p.Ser537=) | |
| 13 | g.48456261T>G | CA483558851 | RB1 | c.1872T>G (p.Ser624=) c.194+74818T>G n.571T>G c.1611T>G (p.Ser537=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456262del | CA2695218554 | RB1 | c.1873del (p.Thr625LeufsTer18) c.194+74819del n.572del c.1612del (p.Thr538LeufsTer18) | |
| 13 | g.48456262A>C | CA388165937 | RB1 | c.1873A>C (p.Thr625Pro) c.194+74819A>C n.572A>C c.1612A>C (p.Thr538Pro) | |
| 13 | g.48456262A>G | CA388165939 | RB1 | c.1873A>G (p.Thr625Ala) c.194+74819A>G n.572A>G c.1612A>G (p.Thr538Ala) | |
| 13 | g.48456262A>T | CA388165941 | RB1 | c.1873A>T (p.Thr625Ser) c.194+74819A>T n.572A>T c.1612A>T (p.Thr538Ser) | dbSNP |
| 13 | g.48456263C>A | CA388165943 | RB1 | c.1874C>A (p.Thr625Asn) c.194+74820C>A n.573C>A c.1613C>A (p.Thr538Asn) | dbSNP |
| 13 | g.48456263C>G | CA388165945 | RB1 | c.1874C>G (p.Thr625Ser) c.194+74820C>G n.573C>G c.1613C>G (p.Thr538Ser) | dbSNP |
| 13 | g.48456263C>T | CA388165947 | RB1 | c.1874C>T (p.Thr625Ile) c.194+74820C>T n.573C>T c.1613C>T (p.Thr538Ile) | dbSNP |
| 13 | g.48456264del | CA2695218555 | RB1 | c.1875del (p.Ala626GlnfsTer17) c.194+74821del n.574del c.1614del (p.Ala539GlnfsTer17) | |
| 13 | g.48456264T>A | CA483558852 | RB1 | c.1875T>A (p.Thr625=) c.194+74821T>A n.574T>A c.1614T>A (p.Thr538=) | dbSNP |
| 13 | g.48456264T>C | CA483558853 | RB1 | c.1875T>C (p.Thr625=) c.194+74821T>C n.574T>C c.1614T>C (p.Thr538=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456264T>G | CA483558854 | RB1 | c.1875T>G (p.Thr625=) c.194+74821T>G n.574T>G c.1614T>G (p.Thr538=) | |
| 13 | g.48456265G>A | CA032954 | RB1 | c.1876G>A (p.Ala626Thr) c.194+74822G>A n.575G>A c.1615G>A (p.Ala539Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48456265G>C | CA388165949 | RB1 | c.1876G>C (p.Ala626Pro) c.194+74822G>C n.575G>C c.1615G>C (p.Ala539Pro) | dbSNP |
| 13 | g.48456265G= | CA2090016466 | RB1 | c.1876G= (p.Ala626=) c.194+74822G= n.575G= c.1615G= (p.Ala539=) | |
| 13 | g.48456265G>T | CA388165951 | RB1 | c.1876G>T (p.Ala626Ser) c.194+74822G>T n.575G>T c.1615G>T (p.Ala539Ser) | |
| 13 | g.48456266C>A | CA388165955 | RB1 | c.1877C>A (p.Ala626Glu) c.194+74823C>A n.576C>A c.1616C>A (p.Ala539Glu) | gnomAD v4 |
| 13 | g.48456266C>G | CA388165956 | RB1 | c.1877C>G (p.Ala626Gly) c.194+74823C>G n.576C>G c.1616C>G (p.Ala539Gly) | |
| 13 | g.48456266C>T | CA388165958 | RB1 | c.1877C>T (p.Ala626Val) c.194+74823C>T n.576C>T c.1616C>T (p.Ala539Val) | |
| 13 | g.48456267A>C | CA483558855 | RB1 | c.1878A>C (p.Ala626=) c.194+74824A>C n.577A>C c.1617A>C (p.Ala539=) | |
| 13 | g.48456267A>G | CA483558856 | RB1 | c.1878A>G (p.Ala626=) c.194+74824A>G n.577A>G c.1617A>G (p.Ala539=) | |
| 13 | g.48456267A>T | CA483558857 | RB1 | c.1878A>T (p.Ala626=) c.194+74824A>T n.577A>T c.1617A>T (p.Ala539=) | dbSNP |
| 13 | g.48456268A>C | CA388165960 | RB1 | c.1879A>C (p.Asn627His) c.194+74825A>C n.578A>C c.1618A>C (p.Asn540His) | |
| 13 | g.48456268A>G | CA388165962 | RB1 | c.1879A>G (p.Asn627Asp) c.194+74825A>G n.578A>G c.1618A>G (p.Asn540Asp) | |
| 13 | g.48456268A>T | CA388165964 | RB1 | c.1879A>T (p.Asn627Tyr) c.194+74825A>T n.578A>T c.1618A>T (p.Asn540Tyr) | |
| 13 | g.48456269A>C | CA388165965 | RB1 | c.1880A>C (p.Asn627Thr) c.194+74826A>C n.579A>C c.1619A>C (p.Asn540Thr) | |
| 13 | g.48456269A>G | CA388165967 | RB1 | c.1880A>G (p.Asn627Ser) c.194+74826A>G n.579A>G c.1619A>G (p.Asn540Ser) | |
| 13 | g.48456269A>T | CA388165968 | RB1 | c.1880A>T (p.Asn627Ile) c.194+74826A>T n.579A>T c.1619A>T (p.Asn540Ile) | |
| 13 | g.48456270T>A | CA388165971 | RB1 | c.1881T>A (p.Asn627Lys) c.194+74827T>A n.580T>A c.1620T>A (p.Asn540Lys) | dbSNP |
| 13 | g.48456270T>C | CA483558858 | RB1 | c.1881T>C (p.Asn627=) c.194+74827T>C n.580T>C c.1620T>C (p.Asn540=) | ClinVar dbSNP |
| 13 | g.48456270T>G | CA388165973 | RB1 | c.1881T>G (p.Asn627Lys) c.194+74827T>G n.580T>G c.1620T>G (p.Asn540Lys) | |
| 13 | g.48456271G>A | CA388165979 | RB1 | c.1882G>A (p.Ala628Thr) c.194+74828G>A n.581G>A c.1621G>A (p.Ala541Thr) | dbSNP gnomAD v4 |
| 13 | g.48456271G>C | CA388165977 | RB1 | c.1882G>C (p.Ala628Pro) c.194+74828G>C n.581G>C c.1621G>C (p.Ala541Pro) | dbSNP |
| 13 | g.48456271G>T | CA388165975 | RB1 | c.1882G>T (p.Ala628Ser) c.194+74828G>T n.581G>T c.1621G>T (p.Ala541Ser) | |
| 13 | g.48456272C>A | CA388165985 | RB1 | c.1883C>A (p.Ala628Glu) c.194+74829C>A n.582C>A c.1622C>A (p.Ala541Glu) | ClinVar dbSNP |
| 13 | g.48456272C= | CA2090016475 | RB1 | c.1883C= (p.Ala628=) c.194+74829C= n.582C= c.1622C= (p.Ala541=) | |
| 13 | g.48456272C>G | CA388165981 | RB1 | c.1883C>G (p.Ala628Gly) c.194+74829C>G n.582C>G c.1622C>G (p.Ala541Gly) | ClinVar dbSNP |
| 13 | g.48456272C>T | CA388165983 | RB1 | c.1883C>T (p.Ala628Val) c.194+74829C>T n.582C>T c.1622C>T (p.Ala541Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456272_48456273del | CA2695218556 | RB1 | c.1883_1884del (p.Ala628GlyfsTer24) c.194+74829_194+74830del n.582_583del c.1622_1623del (p.Ala541GlyfsTer24) | |
| 13 | g.48456273A>C | CA483558859 | RB1 | c.1884A>C (p.Ala628=) c.194+74830A>C n.583A>C c.1623A>C (p.Ala541=) | |
| 13 | g.48456273A>G | CA483558860 | RB1 | c.1884A>G (p.Ala628=) c.194+74830A>G n.583A>G c.1623A>G (p.Ala541=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456273A>T | CA483558861 | RB1 | c.1884A>T (p.Ala628=) c.194+74830A>T n.583A>T c.1623A>T (p.Ala541=) | |
| 13 | g.48456276_48456277del | CA645571602 | RB1 | c.1887_1888del (p.Glu629AspfsTer23) c.194+74833_194+74834del n.586_587del c.1626_1627del (p.Glu542AspfsTer23) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48456274G>A | CA388165987 | RB1 | c.1885G>A (p.Glu629Lys) c.194+74831G>A n.584G>A c.1624G>A (p.Glu542Lys) | dbSNP |
| 13 | g.48456274G>C | CA388165989 | RB1 | c.1885G>C (p.Glu629Gln) c.194+74831G>C n.584G>C c.1624G>C (p.Glu542Gln) | dbSNP |
| 13 | g.48456274G>T | CA388165991 | RB1 | c.1885G>T (p.Glu629Ter) c.194+74831G>T n.584G>T c.1624G>T (p.Glu542Ter) | |
| 13 | g.48456275A>C | CA388165993 | RB1 | c.1886A>C (p.Glu629Ala) c.194+74832A>C n.585A>C c.1625A>C (p.Glu542Ala) | |
| 13 | g.48456275A>G | CA388165996 | RB1 | c.1886A>G (p.Glu629Gly) c.194+74832A>G n.585A>G c.1625A>G (p.Glu542Gly) | ClinVar |
| 13 | g.48456275A>T | CA388165998 | RB1 | c.1886A>T (p.Glu629Val) c.194+74832A>T n.585A>T c.1625A>T (p.Glu542Val) | dbSNP |
| 13 | g.48456276G>A | CA483558862 | RB1 | c.1887G>A (p.Glu629=) c.194+74833G>A n.586G>A c.1626G>A (p.Glu542=) | dbSNP |
| 13 | g.48456276G>C | CA032967 | RB1 | c.1887G>C (p.Glu629Asp) c.194+74833G>C n.586G>C c.1626G>C (p.Glu542Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48456276G= | CA2090016484 | RB1 | c.1887G= (p.Glu629=) c.194+74833G= n.586G= c.1626G= (p.Glu542=) | |
| 13 | g.48456276G>T | CA388166001 | RB1 | c.1887G>T (p.Glu629Asp) c.194+74833G>T n.586G>T c.1626G>T (p.Glu542Asp) | ClinVar dbSNP |
| 13 | g.48456277A= | CA2090016488 | RB1 | c.1888A= (p.Thr630=) c.194+74834A= n.587A= c.1627A= (p.Thr543=) | |
| 13 | g.48456277A>C | CA388166003 | RB1 | c.1888A>C (p.Thr630Pro) c.194+74834A>C n.587A>C c.1627A>C (p.Thr543Pro) | |
| 13 | g.48456277A>G | CA032983 | RB1 | c.1888A>G (p.Thr630Ala) c.194+74834A>G n.587A>G c.1627A>G (p.Thr543Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456277A>T | CA388166006 | RB1 | c.1888A>T (p.Thr630Ser) c.194+74834A>T n.587A>T c.1627A>T (p.Thr543Ser) | dbSNP |
| 13 | g.48456277_48456278delinsGG | CA2825002185 | RB1 | c.1888_1889delinsGG (p.Thr630Gly) c.194+74834_194+74835delinsGG n.587_588delinsGG c.1627_1628delinsGG (p.Thr543Gly) | ClinVar |
| 13 | g.48456280_48456281del | CA2739277613 | RB1 | c.1891_1892del (p.Gln631SerfsTer21) c.194+74837_194+74838del n.590_591del c.1630_1631del (p.Gln544SerfsTer21) | ClinVar |
| 13 | g.48456278C>A | CA388166012 | RB1 | c.1889C>A (p.Thr630Lys) c.194+74835C>A n.588C>A c.1628C>A (p.Thr543Lys) | dbSNP |
| 13 | g.48456278C= | CA2090016492 | RB1 | c.1889C= (p.Thr630=) c.194+74835C= n.588C= c.1628C= (p.Thr543=) | |
| 13 | g.48456278C>G | CA388166008 | RB1 | c.1889C>G (p.Thr630Arg) c.194+74835C>G n.588C>G c.1628C>G (p.Thr543Arg) | ClinVar dbSNP |
| 13 | g.48456278C>T | CA388166011 | RB1 | c.1889C>T (p.Thr630Ile) c.194+74835C>T n.588C>T c.1628C>T (p.Thr543Ile) | ClinVar dbSNP |
| 13 | g.48456279A= | CA2090016499 | RB1 | c.1890A= (p.Thr630=) c.194+74836A= n.589A= c.1629A= (p.Thr543=) | |
| 13 | g.48456279A>C | CA483558863 | RB1 | c.1890A>C (p.Thr630=) c.194+74836A>C n.589A>C c.1629A>C (p.Thr543=) | dbSNP |
| 13 | g.48456279A>G | CA483558864 | RB1 | c.1890A>G (p.Thr630=) c.194+74836A>G n.589A>G c.1629A>G (p.Thr543=) | ClinVar dbSNP |
| 13 | g.48456279A>T | CA483558865 | RB1 | c.1890A>T (p.Thr630=) c.194+74836A>T n.589A>T c.1629A>T (p.Thr543=) | dbSNP |
| 13 | g.48456279_48456282del | CA2573149581 | RB1 | c.1890_1893del (p.Ala632ProfsTer10) c.194+74836_194+74839del n.589_592del c.1629_1632del (p.Ala545ProfsTer10) | ClinVar dbSNP |
| 13 | g.48456280del | CA2695218560 | RB1 | c.1891del (p.Gln631LysfsTer12) c.194+74837del n.590del c.1630del (p.Gln544LysfsTer12) | |
| 13 | g.48456280C>A | CA388166013 | RB1 | c.1891C>A (p.Gln631Lys) c.194+74837C>A n.590C>A c.1630C>A (p.Gln544Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48456280C= | CA2090016505 | RB1 | c.1891C= (p.Gln631=) c.194+74837C= n.590C= c.1630C= (p.Gln544=) | |
| 13 | g.48456280C>G | CA388166014 | RB1 | c.1891C>G (p.Gln631Glu) c.194+74837C>G n.590C>G c.1630C>G (p.Gln544Glu) | dbSNP |
| 13 | g.48456280C>T | CA388166017 | RB1 | c.1891C>T (p.Gln631Ter) c.194+74837C>T n.590C>T c.1630C>T (p.Gln544Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48456282_48456291del | CA2695218561 | RB1 | c.1893_1902del (p.Ala632ProfsTer8) c.194+74839_194+74848del n.592_601del c.1632_1641del (p.Ala545ProfsTer8) | |
| 13 | g.48456281A= | CA2090016515 | RB1 | c.1892A= (p.Gln631=) c.194+74838A= n.591A= c.1631A= (p.Gln544=) | |
| 13 | g.48456281A>C | CA388166019 | RB1 | c.1892A>C (p.Gln631Pro) c.194+74838A>C n.591A>C c.1631A>C (p.Gln544Pro) | |
| 13 | g.48456281A>G | CA388166021 | RB1 | c.1892A>G (p.Gln631Arg) c.194+74838A>G n.591A>G c.1631A>G (p.Gln544Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456281A>T | CA388166022 | RB1 | c.1892A>T (p.Gln631Leu) c.194+74838A>T n.591A>T c.1631A>T (p.Gln544Leu) | dbSNP |
| 13 | g.48456282del | CA2580087587 | RB1 | c.1893del (p.Ala632GlnfsTer11) c.194+74839del n.592del c.1632del (p.Ala545GlnfsTer11) | ClinVar |
| 13 | g.48456282A= | CA2090016523 | RB1 | c.1893A= (p.Gln631=) c.194+74839A= n.592A= c.1632A= (p.Gln544=) | |
| 13 | g.48456282A>C | CA388166025 | RB1 | c.1893A>C (p.Gln631His) c.194+74839A>C n.592A>C c.1632A>C (p.Gln544His) | |
| 13 | g.48456282A>G | CA033007 | RB1 | c.1893A>G (p.Gln631=) c.194+74839A>G n.592A>G c.1632A>G (p.Gln544=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456282A>T | CA388166028 | RB1 | c.1893A>T (p.Gln631His) c.194+74839A>T n.592A>T c.1632A>T (p.Gln544His) | dbSNP |
| 13 | g.48456283G>A | CA388166030 | RB1 | c.1894G>A (p.Ala632Thr) c.194+74840G>A n.593G>A c.1633G>A (p.Ala545Thr) | dbSNP |
| 13 | g.48456283G>C | CA388166032 | RB1 | c.1894G>C (p.Ala632Pro) c.194+74840G>C n.593G>C c.1633G>C (p.Ala545Pro) | dbSNP |
| 13 | g.48456283G>T | CA388166034 | RB1 | c.1894G>T (p.Ala632Ser) c.194+74840G>T n.593G>T c.1633G>T (p.Ala545Ser) | |
| 13 | g.48456284del | CA2695218565 | RB1 | c.1895del (p.Ala632GlufsTer11) c.194+74841del n.594del c.1634del (p.Ala545GlufsTer11) | |
| 13 | g.48456284C>A | CA388166039 | RB1 | c.1895C>A (p.Ala632Glu) c.194+74841C>A n.594C>A c.1634C>A (p.Ala545Glu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456284C= | CA2090016530 | RB1 | c.1895C= (p.Ala632=) c.194+74841C= n.594C= c.1634C= (p.Ala545=) | |
| 13 | g.48456284C>G | CA388166041 | RB1 | c.1895C>G (p.Ala632Gly) c.194+74841C>G n.594C>G c.1634C>G (p.Ala545Gly) | |
| 13 | g.48456284C>T | CA388166036 | RB1 | c.1895C>T (p.Ala632Val) c.194+74841C>T n.594C>T c.1634C>T (p.Ala545Val) | dbSNP gnomAD v4 |
| 13 | g.48456285A>C | CA483558866 | RB1 | c.1896A>C (p.Ala632=) c.194+74842A>C n.595A>C c.1635A>C (p.Ala545=) | |
| 13 | g.48456285A>G | CA483558867 | RB1 | c.1896A>G (p.Ala632=) c.194+74842A>G n.595A>G c.1635A>G (p.Ala545=) | |
| 13 | g.48456285A>T | CA483558868 | RB1 | c.1896A>T (p.Ala632=) c.194+74842A>T n.595A>T c.1635A>T (p.Ala545=) | |
| 13 | g.48456286A= | CA2090016537 | RB1 | c.1897A= (p.Thr633=) c.194+74843A= n.596A= c.1636A= (p.Thr546=) | |
| 13 | g.48456286A>C | CA388166043 | RB1 | c.1897A>C (p.Thr633Pro) c.194+74843A>C n.596A>C c.1636A>C (p.Thr546Pro) | dbSNP |
| 13 | g.48456286A>G | CA388166045 | RB1 | c.1897A>G (p.Thr633Ala) c.194+74843A>G n.596A>G c.1636A>G (p.Thr546Ala) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48456286A>T | CA388166046 | RB1 | c.1897A>T (p.Thr633Ser) c.194+74843A>T n.596A>T c.1636A>T (p.Thr546Ser) | dbSNP |
| 13 | g.48456287C>A | CA388166048 | RB1 | c.1898C>A (p.Thr633Asn) c.194+74844C>A n.597C>A c.1637C>A (p.Thr546Asn) | ClinVar dbSNP |
| 13 | g.48456287C= | CA2090016546 | RB1 | c.1898C= (p.Thr633=) c.194+74844C= n.597C= c.1637C= (p.Thr546=) | |
| 13 | g.48456287C>G | CA388166050 | RB1 | c.1898C>G (p.Thr633Ser) c.194+74844C>G n.597C>G c.1637C>G (p.Thr546Ser) | dbSNP |
| 13 | g.48456287C>T | CA026405 | RB1 | c.1898C>T (p.Thr633Ile) c.194+74844C>T n.597C>T c.1637C>T (p.Thr546Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48456288C>A | CA483558869 | RB1 | c.1899C>A (p.Thr633=) c.194+74845C>A n.598C>A c.1638C>A (p.Thr546=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456288C= | CA2090016552 | RB1 | c.1899C= (p.Thr633=) c.194+74845C= n.598C= c.1638C= (p.Thr546=) | |
| 13 | g.48456288C>G | CA483558871 | RB1 | c.1899C>G (p.Thr633=) c.194+74845C>G n.598C>G c.1638C>G (p.Thr546=) | dbSNP |
| 13 | g.48456288C>T | CA483558870 | RB1 | c.1899C>T (p.Thr633=) c.194+74845C>T n.598C>T c.1638C>T (p.Thr546=) | ClinVar dbSNP |
| 13 | g.48456289T>A | CA388166056 | RB1 | c.1900T>A (p.Ser634Thr) c.194+74846T>A n.599T>A c.1639T>A (p.Ser547Thr) | ClinVar |
| 13 | g.48456289T>C | CA388166054 | RB1 | c.1900T>C (p.Ser634Pro) c.194+74846T>C n.599T>C c.1639T>C (p.Ser547Pro) | COSMIC |
| 13 | g.48456289T>G | CA388166053 | RB1 | c.1900T>G (p.Ser634Ala) c.194+74846T>G n.599T>G c.1639T>G (p.Ser547Ala) | |
| 13 | g.48456290C>A | CA388166058 | RB1 | c.1901C>A (p.Ser634Ter) c.194+74847C>A n.600C>A c.1640C>A (p.Ser547Ter) | COSMIC COSMIC |
| 13 | g.48456290C= | CA2090016559 | RB1 | c.1901C= (p.Ser634=) c.194+74847C= n.600C= c.1640C= (p.Ser547=) | |
| 13 | g.48456290C>G | CA388166060 | RB1 | c.1901C>G (p.Ser634Ter) c.194+74847C>G n.600C>G c.1640C>G (p.Ser547Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48456290C>T | CA388166062 | RB1 | c.1901C>T (p.Ser634Leu) c.194+74847C>T n.600C>T c.1640C>T (p.Ser547Leu) | dbSNP gnomAD v4 |
| 13 | g.48456291A>C | CA483558872 | RB1 | c.1902A>C (p.Ser634=) c.194+74848A>C n.601A>C c.1641A>C (p.Ser547=) | |
| 13 | g.48456291A>G | CA483558873 | RB1 | c.1902A>G (p.Ser634=) c.194+74848A>G n.601A>G c.1641A>G (p.Ser547=) | dbSNP |
| 13 | g.48456291A>T | CA483558874 | RB1 | c.1902A>T (p.Ser634=) c.194+74848A>T n.601A>T c.1641A>T (p.Ser547=) | dbSNP |
| 13 | g.48456291dup | CA2695218568 | RB1 | c.1902dup (p.Ala635SerfsTer18) c.194+74848dup n.601dup c.1641dup (p.Ala548SerfsTer18) | |
| 13 | g.48456292G>A | CA388166064 | RB1 | c.1903G>A (p.Ala635Thr) c.194+74849G>A n.602G>A c.1642G>A (p.Ala548Thr) | dbSNP |
| 13 | g.48456292G>C | CA388166066 | RB1 | c.1903G>C (p.Ala635Pro) c.194+74849G>C n.602G>C c.1642G>C (p.Ala548Pro) | dbSNP |
| 13 | g.48456292G= | CA2090016564 | RB1 | c.1903G= (p.Ala635=) c.194+74849G= n.602G= c.1642G= (p.Ala548=) | |
| 13 | g.48456292G>T | CA388166067 | RB1 | c.1903G>T (p.Ala635Ser) c.194+74849G>T n.602G>T c.1642G>T (p.Ala548Ser) | ClinVar dbSNP |
| 13 | g.48456293C>A | CA388166070 | RB1 | c.1904C>A (p.Ala635Asp) c.194+74850C>A n.603C>A c.1643C>A (p.Ala548Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48456293C= | CA2090016570 | RB1 | c.1904C= (p.Ala635=) c.194+74850C= n.603C= c.1643C= (p.Ala548=) | |
| 13 | g.48456293C>G | CA388166073 | RB1 | c.1904C>G (p.Ala635Gly) c.194+74850C>G n.603C>G c.1643C>G (p.Ala548Gly) | ClinVar dbSNP |
| 13 | g.48456293C>T | CA388166071 | RB1 | c.1904C>T (p.Ala635Val) c.194+74850C>T n.603C>T c.1643C>T (p.Ala548Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456293_48456299del | CA645571603 | RB1 | c.1904_1910del (p.Ala635GlyfsTer6) c.194+74850_194+74856del n.603_609del c.1643_1649del (p.Ala548GlyfsTer6) | COSMIC |
| 13 | g.48456294C>A | CA483558877 | RB1 | c.1905C>A (p.Ala635=) c.194+74851C>A n.604C>A c.1644C>A (p.Ala548=) | dbSNP |
| 13 | g.48456294C= | CA2090016578 | RB1 | c.1905C= (p.Ala635=) c.194+74851C= n.604C= c.1644C= (p.Ala548=) | |
| 13 | g.48456294C>G | CA483558876 | RB1 | c.1905C>G (p.Ala635=) c.194+74851C>G n.604C>G c.1644C>G (p.Ala548=) | ClinVar dbSNP |
| 13 | g.48456294C>T | CA483558875 | RB1 | c.1905C>T (p.Ala635=) c.194+74851C>T n.604C>T c.1644C>T (p.Ala548=) | ClinVar dbSNP |
| 13 | g.48456294_48456295delinsCT | CA2090016577 | RB1 | c.1905_1906delinsCT (p.Ala635=) c.194+74851_194+74852delinsCT n.604_605delinsCT c.1644_1645delinsCT (p.Ala548=) | |
| 13 | g.48456295T>A | CA388166074 | RB1 | c.1906T>A (p.Phe636Ile) c.194+74852T>A n.605T>A c.1645T>A (p.Phe549Ile) | dbSNP |
| 13 | g.48456295T>C | CA388166076 | RB1 | c.1906T>C (p.Phe636Leu) c.194+74852T>C n.605T>C c.1645T>C (p.Phe549Leu) | ClinVar |
| 13 | g.48456295T>G | CA388166078 | RB1 | c.1906T>G (p.Phe636Val) c.194+74852T>G n.605T>G c.1645T>G (p.Phe549Val) | |
| 13 | g.48456296del | CA026406 | RB1 | c.1907del (p.Phe636SerfsTer7) c.194+74853del n.606del c.1646del (p.Phe549SerfsTer7) | ClinVar dbSNP |
| 13 | g.48456296T>A | CA388166081 | RB1 | c.1907T>A (p.Phe636Tyr) c.194+74853T>A n.606T>A c.1646T>A (p.Phe549Tyr) | |
| 13 | g.48456296T>C | CA388166083 | RB1 | c.1907T>C (p.Phe636Ser) c.194+74853T>C n.606T>C c.1646T>C (p.Phe549Ser) | |
| 13 | g.48456296T>G | CA388166084 | RB1 | c.1907T>G (p.Phe636Cys) c.194+74853T>G n.606T>G c.1646T>G (p.Phe549Cys) | |
| 13 | g.48456297C>A | CA388166086 | RB1 | c.1908C>A (p.Phe636Leu) c.194+74854C>A n.607C>A c.1647C>A (p.Phe549Leu) | dbSNP |
| 13 | g.48456297C>G | CA388166088 | RB1 | c.1908C>G (p.Phe636Leu) c.194+74854C>G n.607C>G c.1647C>G (p.Phe549Leu) | ClinVar dbSNP |
| 13 | g.48456297C>T | CA483558878 | RB1 | c.1908C>T (p.Phe636=) c.194+74854C>T n.607C>T c.1647C>T (p.Phe549=) | ClinVar dbSNP |
| 13 | g.48456298del | CA2728084055 | RB1 | c.1909del (p.Gln637ArgfsTer6) c.194+74855del n.608del c.1648del (p.Gln550ArgfsTer6) | dbSNP |
| 13 | g.48456298C>A | CA388166090 | RB1 | c.1909C>A (p.Gln637Lys) c.194+74855C>A n.608C>A c.1648C>A (p.Gln550Lys) | |
| 13 | g.48456298C= | CA2090016591 | RB1 | c.1909C= (p.Gln637=) c.194+74855C= n.608C= c.1648C= (p.Gln550=) | |
| 13 | g.48456298C>G | CA388166092 | RB1 | c.1909C>G (p.Gln637Glu) c.194+74855C>G n.608C>G c.1648C>G (p.Gln550Glu) | |
| 13 | g.48456298C>T | CA026407 | RB1 | c.1909C>T (p.Gln637Ter) c.194+74855C>T n.608C>T c.1648C>T (p.Gln550Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48456299A>C | CA388166098 | RB1 | c.1910A>C (p.Gln637Pro) c.194+74856A>C n.609A>C c.1649A>C (p.Gln550Pro) | |
| 13 | g.48456299A>G | CA388166095 | RB1 | c.1910A>G (p.Gln637Arg) c.194+74856A>G n.609A>G c.1649A>G (p.Gln550Arg) | dbSNP |
| 13 | g.48456299A>T | CA388166097 | RB1 | c.1910A>T (p.Gln637Leu) c.194+74856A>T n.609A>T c.1649A>T (p.Gln550Leu) | dbSNP |
| 13 | g.48456300G>A | CA483558879 | RB1 | c.1911G>A (p.Gln637=) c.194+74857G>A n.610G>A c.1650G>A (p.Gln550=) | ClinVar dbSNP |
| 13 | g.48456300G>C | CA388166100 | RB1 | c.1911G>C (p.Gln637His) c.194+74857G>C n.610G>C c.1650G>C (p.Gln550His) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48456300G= | CA2090016600 | RB1 | c.1911G= (p.Gln637=) c.194+74857G= n.610G= c.1650G= (p.Gln550=) | |
| 13 | g.48456300G>T | CA388166102 | RB1 | c.1911G>T (p.Gln637His) c.194+74857G>T n.610G>T c.1650G>T (p.Gln550His) | |
| 13 | g.48456301A>C | CA388166104 | RB1 | c.1912A>C (p.Thr638Pro) c.194+74858A>C n.611A>C c.1651A>C (p.Thr551Pro) | |
| 13 | g.48456301A>G | CA388166106 | RB1 | c.1912A>G (p.Thr638Ala) c.194+74858A>G n.611A>G c.1651A>G (p.Thr551Ala) | ClinVar |
| 13 | g.48456301A>T | CA388166108 | RB1 | c.1912A>T (p.Thr638Ser) c.194+74858A>T n.611A>T c.1651A>T (p.Thr551Ser) | COSMIC COSMIC |
| 13 | g.48456302C>A | CA388166110 | RB1 | c.1913C>A (p.Thr638Asn) c.194+74859C>A n.612C>A c.1652C>A (p.Thr551Asn) | dbSNP |
| 13 | g.48456302C>G | CA388166112 | RB1 | c.1913C>G (p.Thr638Ser) c.194+74859C>G n.612C>G c.1652C>G (p.Thr551Ser) | dbSNP |
| 13 | g.48456302C>T | CA388166113 | RB1 | c.1913C>T (p.Thr638Ile) c.194+74859C>T n.612C>T c.1652C>T (p.Thr551Ile) | dbSNP |
| 13 | g.48456303C>A | CA033021 | RB1 | c.1914C>A (p.Thr638=) c.194+74860C>A n.613C>A c.1653C>A (p.Thr551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456303C= | CA2090016609 | RB1 | c.1914C= (p.Thr638=) c.194+74860C= n.613C= c.1653C= (p.Thr551=) | |
| 13 | g.48456303C>G | CA483558880 | RB1 | c.1914C>G (p.Thr638=) c.194+74860C>G n.613C>G c.1653C>G (p.Thr551=) | dbSNP |
| 13 | g.48456303C>T | CA483558881 | RB1 | c.1914C>T (p.Thr638=) c.194+74860C>T n.613C>T c.1653C>T (p.Thr551=) | dbSNP |
| 13 | g.48456304C>A | CA388166117 | RB1 | c.1915C>A (p.Gln639Lys) c.194+74861C>A n.614C>A c.1654C>A (p.Gln552Lys) | |
| 13 | g.48456304C= | CA2090016618 | RB1 | c.1915C= (p.Gln639=) c.194+74861C= n.614C= c.1654C= (p.Gln552=) | |
| 13 | g.48456304C>G | CA388166118 | RB1 | c.1915C>G (p.Gln639Glu) c.194+74861C>G n.614C>G c.1654C>G (p.Gln552Glu) | dbSNP |
| 13 | g.48456304C>T | CA388166121 | RB1 | c.1915C>T (p.Gln639Ter) c.194+74861C>T n.614C>T c.1654C>T (p.Gln552Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48456305A= | CA2090016626 | RB1 | c.1916A= (p.Gln639=) c.194+74862A= n.615A= c.1655A= (p.Gln552=) | |
| 13 | g.48456305A>C | CA388166125 | RB1 | c.1916A>C (p.Gln639Pro) c.194+74862A>C n.615A>C c.1655A>C (p.Gln552Pro) | |
| 13 | g.48456305A>G | CA033033 | RB1 | c.1916A>G (p.Gln639Arg) c.194+74862A>G n.615A>G c.1655A>G (p.Gln552Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48456305A>T | CA388166122 | RB1 | c.1916A>T (p.Gln639Leu) c.194+74862A>T n.615A>T c.1655A>T (p.Gln552Leu) | dbSNP |
| 13 | g.48456305dup | CA2499222467 | RB1 | c.1916dup (p.Lys640GlufsTer13) c.194+74862dup n.615dup c.1655dup (p.Lys553GlufsTer13) | ClinVar dbSNP |
| 13 | g.48456306G>A | CA483558882 | RB1 | c.1917G>A (p.Gln639=) c.194+74863G>A n.616G>A c.1656G>A (p.Gln552=) | dbSNP gnomAD v4 |
| 13 | g.48456306G>C | CA388166127 | RB1 | c.1917G>C (p.Gln639His) c.194+74863G>C n.616G>C c.1656G>C (p.Gln552His) | dbSNP |
| 13 | g.48456306G>T | CA388166129 | RB1 | c.1917G>T (p.Gln639His) c.194+74863G>T n.616G>T c.1656G>T (p.Gln552His) | |
| 13 | g.48456307A>C | CA388166131 | RB1 | c.1918A>C (p.Lys640Gln) c.194+74864A>C n.617A>C c.1657A>C (p.Lys553Gln) | ClinVar gnomAD v4 |
| 13 | g.48456307A>G | CA388166133 | RB1 | c.1918A>G (p.Lys640Glu) c.194+74864A>G n.617A>G c.1657A>G (p.Lys553Glu) | dbSNP |
| 13 | g.48456307A>T | CA388166135 | RB1 | c.1918A>T (p.Lys640Ter) c.194+74864A>T n.617A>T c.1657A>T (p.Lys553Ter) | |
| 13 | g.48456308dup | CA645571604 | RB1 | c.1919dup (p.Pro641AlafsTer12) c.194+74865dup c.1658dup (p.Pro554AlafsTer12) | COSMIC COSMIC |
| 13 | g.48456308A= | CA2090016632 | RB1 | c.1919A= (p.Lys640=) c.194+74865A= c.1658A= (p.Lys553=) | |
| 13 | g.48456308A>C | CA388166137 | RB1 | c.1919A>C (p.Lys640Thr) c.194+74865A>C c.1658A>C (p.Lys553Thr) | ClinVar dbSNP |
| 13 | g.48456308A>G | CA388166138 | RB1 | c.1919A>G (p.Lys640Arg) c.194+74865A>G c.1658A>G (p.Lys553Arg) | |
| 13 | g.48456308A>T | CA388166140 | RB1 | c.1919A>T (p.Lys640Met) c.194+74865A>T c.1658A>T (p.Lys553Met) | dbSNP |
| 13 | g.48456309G>A | CA483558883 | RB1 | c.1920G>A (p.Lys640=) c.194+74866G>A c.1659G>A (p.Lys553=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48456309G>C | CA388166142 | RB1 | c.1920G>C (p.Lys640Asn) c.194+74866G>C c.1659G>C (p.Lys553Asn) | dbSNP |
| 13 | g.48456309G= | CA2090016637 | RB1 | c.1920G= (p.Lys640=) c.194+74866G= c.1659G= (p.Lys553=) | |
| 13 | g.48456309G>T | CA388166144 | RB1 | c.1920G>T (p.Lys640Asn) c.194+74866G>T c.1659G>T (p.Lys553Asn) | dbSNP |
| 13 | g.48456310C>A | CA388166146 | RB1 | c.1921C>A (p.Pro641Thr) c.194+74867C>A c.1660C>A (p.Pro554Thr) | dbSNP |
| 13 | g.48456310C>G | CA388166148 | RB1 | c.1921C>G (p.Pro641Ala) c.194+74867C>G c.1660C>G (p.Pro554Ala) | dbSNP |
| 13 | g.48456310C>T | CA388166150 | RB1 | c.1921C>T (p.Pro641Ser) c.194+74867C>T c.1660C>T (p.Pro554Ser) | dbSNP |
| 13 | g.48456311C>A | CA388166154 | RB1 | c.1922C>A (p.Pro641Gln) c.194+74868C>A c.1661C>A (p.Pro554Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48456311C= | CA2090016643 | RB1 | c.1922C= (p.Pro641=) c.194+74868C= c.1661C= (p.Pro554=) | |
| 13 | g.48456311C>G | CA388166155 | RB1 | c.1922C>G (p.Pro641Arg) c.194+74868C>G c.1661C>G (p.Pro554Arg) | dbSNP |
| 13 | g.48456311C>T | CA388166152 | RB1 | c.1922C>T (p.Pro641Leu) c.194+74868C>T c.1661C>T (p.Pro554Leu) | dbSNP |
| 13 | g.48456312A= | CA2090016651 | RB1 | c.1923A= (p.Pro641=) c.194+74869A= c.1662A= (p.Pro554=) | |
| 13 | g.48456312A>C | CA483558884 | RB1 | c.1923A>C (p.Pro641=) c.194+74869A>C c.1662A>C (p.Pro554=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48456312A>G | CA483558885 | RB1 | c.1923A>G (p.Pro641=) c.194+74869A>G c.1662A>G (p.Pro554=) | |
| 13 | g.48456312A>T | CA483558886 | RB1 | c.1923A>T (p.Pro641=) c.194+74869A>T c.1662A>T (p.Pro554=) | dbSNP |
| 13 | g.48456313T>A | CA388166157 | RB1 | c.1924T>A (p.Leu642Met) c.194+74870T>A c.1663T>A (p.Leu555Met) | dbSNP |
| 13 | g.48456313T>C | CA483558887 | RB1 | c.1924T>C (p.Leu642=) c.194+74870T>C c.1663T>C (p.Leu555=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48456313T>G | CA388166159 | RB1 | c.1924T>G (p.Leu642Val) c.194+74870T>G c.1663T>G (p.Leu555Val) | ClinVar dbSNP |
| 13 | g.48456313T= | CA2090016654 | RB1 | c.1924T= (p.Leu642=) c.194+74870T= c.1663T= (p.Leu555=) | |
| 13 | g.48456314T>A | CA026408 | RB1 | c.1925T>A (p.Leu642Ter) c.194+74871T>A c.1664T>A (p.Leu555Ter) | ClinVar dbSNP |
| 13 | g.48456314T>C | CA388166161 | RB1 | c.1925T>C (p.Leu642Ser) c.194+74871T>C c.1664T>C (p.Leu555Ser) | dbSNP |
| 13 | g.48456314T>G | CA388166163 | RB1 | c.1925T>G (p.Leu642Trp) c.194+74871T>G c.1664T>G (p.Leu555Trp) | |
| 13 | g.48456314T= | CA2090016661 | RB1 | c.1925T= (p.Leu642=) c.194+74871T= c.1664T= (p.Leu555=) |