| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48381248_48381444del | CA645578673 | RB1 | c.1500_1695+1del c.1239_1434+1del | COSMIC |
| 13 | g.48381402C>A | CA483559624 | RB1 | c.1654C>A (p.Arg552=) c.153C>A c.1393C>A (p.Arg465=) | dbSNP |
| 13 | g.48381402C= | CA2089972502 | RB1 | c.1654C= (p.Arg552=) c.153C= c.1393C= (p.Arg465=) | |
| 13 | g.48381402C>G | CA388163937 | RB1 | c.1654C>G (p.Arg552Gly) c.153C>G c.1393C>G (p.Arg465Gly) | dbSNP |
| 13 | g.48381402C>T | CA026383 | RB1 | c.1654C>T (p.Arg552Ter) c.153C>T c.1393C>T (p.Arg465Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.48381403G>A | CA249282003 | RB1 | c.1655G>A (p.Arg552Gln) c.154G>A c.1394G>A (p.Arg465Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48381403G>C | CA388163941 | RB1 | c.1655G>C (p.Arg552Pro) c.154G>C c.1394G>C (p.Arg465Pro) | dbSNP |
| 13 | g.48381403G= | CA2089972504 | RB1 | c.1655G= (p.Arg552=) c.154G= c.1394G= (p.Arg465=) | |
| 13 | g.48381403G>T | CA388163943 | RB1 | c.1655G>T (p.Arg552Leu) c.154G>T c.1394G>T (p.Arg465Leu) | ClinVar dbSNP |
| 13 | g.48381404A>C | CA483559631 | RB1 | c.1656A>C (p.Arg552=) c.155A>C c.1395A>C (p.Arg465=) | |
| 13 | g.48381404A>G | CA483559632 | RB1 | c.1656A>G (p.Arg552=) c.155A>G c.1395A>G (p.Arg465=) | |
| 13 | g.48381404A>T | CA483559635 | RB1 | c.1656A>T (p.Arg552=) c.155A>T c.1395A>T (p.Arg465=) | dbSNP |
| 13 | g.48381407_48381422del | CA645578680 | RB1 | c.1659_1674del (p.Cys553TrpfsTer?) c.158_173del c.1398_1413del (p.Cys466TrpfsTer?) | COSMIC |
| 13 | g.48381405T>A | CA388163945 | RB1 | c.1657T>A (p.Cys553Ser) c.156T>A c.1396T>A (p.Cys466Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48381405T>C | CA388163949 | RB1 | c.1657T>C (p.Cys553Arg) c.156T>C c.1396T>C (p.Cys466Arg) | |
| 13 | g.48381405T>G | CA388163947 | RB1 | c.1657T>G (p.Cys553Gly) c.156T>G c.1396T>G (p.Cys466Gly) | |
| 13 | g.48381405T= | CA2089972506 | RB1 | c.1657T= (p.Cys553=) c.156T= c.1396T= (p.Cys466=) | |
| 13 | g.48381406G>A | CA388163952 | RB1 | c.1658G>A (p.Cys553Tyr) c.157G>A c.1397G>A (p.Cys466Tyr) | dbSNP |
| 13 | g.48381406G>C | CA388163953 | RB1 | c.1658G>C (p.Cys553Ser) c.157G>C c.1397G>C (p.Cys466Ser) | dbSNP |
| 13 | g.48381406G>T | CA388163954 | RB1 | c.1658G>T (p.Cys553Phe) c.157G>T c.1397G>T (p.Cys466Phe) | |
| 13 | g.48381407T>A | CA388163957 | RB1 | c.1659T>A (p.Cys553Ter) c.158T>A c.1398T>A (p.Cys466Ter) | ClinVar dbSNP |
| 13 | g.48381407T>C | CA483559641 | RB1 | c.1659T>C (p.Cys553=) c.158T>C c.1398T>C (p.Cys466=) | dbSNP |
| 13 | g.48381407T>G | CA388163959 | RB1 | c.1659T>G (p.Cys553Trp) c.158T>G c.1398T>G (p.Cys466Trp) | |
| 13 | g.48381407T= | CA2089972507 | RB1 | c.1659T= (p.Cys553=) c.158T= c.1398T= (p.Cys466=) | |
| 13 | g.48381408G>A | CA388163960 | RB1 | c.1660G>A (p.Glu554Lys) c.159G>A c.1399G>A (p.Glu467Lys) | dbSNP |
| 13 | g.48381408G>C | CA388163962 | RB1 | c.1660G>C (p.Glu554Gln) c.159G>C c.1399G>C (p.Glu467Gln) | dbSNP |
| 13 | g.48381408G>T | CA388163963 | RB1 | c.1660G>T (p.Glu554Ter) c.159G>T c.1399G>T (p.Glu467Ter) | COSMIC COSMIC |
| 13 | g.48381409A>C | CA388163965 | RB1 | c.1661A>C (p.Glu554Ala) c.160A>C c.1400A>C (p.Glu467Ala) | |
| 13 | g.48381409A>G | CA388163966 | RB1 | c.1661A>G (p.Glu554Gly) c.160A>G c.1400A>G (p.Glu467Gly) | ClinVar dbSNP |
| 13 | g.48381409A>T | CA388163968 | RB1 | c.1661A>T (p.Glu554Val) c.160A>T c.1400A>T (p.Glu467Val) | |
| 13 | g.48381410A>C | CA388163970 | RB1 | c.1662A>C (p.Glu554Asp) c.161A>C c.1401A>C (p.Glu467Asp) | |
| 13 | g.48381410A>G | CA483559642 | RB1 | c.1662A>G (p.Glu554=) c.161A>G c.1401A>G (p.Glu467=) | |
| 13 | g.48381410A>T | CA388163972 | RB1 | c.1662A>T (p.Glu554Asp) c.161A>T c.1401A>T (p.Glu467Asp) | dbSNP |
| 13 | g.48381411C>A | CA388163974 | RB1 | c.1663C>A (p.His555Asn) c.162C>A c.1402C>A (p.His468Asn) | |
| 13 | g.48381411C= | CA2089972508 | RB1 | c.1663C= (p.His555=) c.162C= c.1402C= (p.His468=) | |
| 13 | g.48381411C>G | CA388163977 | RB1 | c.1663C>G (p.His555Asp) c.162C>G c.1402C>G (p.His468Asp) | dbSNP |
| 13 | g.48381411C>T | CA029262 | RB1 | c.1663C>T (p.His555Tyr) c.162C>T c.1402C>T (p.His468Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.48381412A= | CA2089972510 | RB1 | c.1664A= (p.His555=) c.163A= c.1403A= (p.His468=) | |
| 13 | g.48381412A>C | CA388163979 | RB1 | c.1664A>C (p.His555Pro) c.163A>C c.1403A>C (p.His468Pro) | COSMIC COSMIC |
| 13 | g.48381412A>G | CA388163981 | RB1 | c.1664A>G (p.His555Arg) c.163A>G c.1403A>G (p.His468Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48381412A>T | CA388163982 | RB1 | c.1664A>T (p.His555Leu) c.163A>T c.1403A>T (p.His468Leu) | dbSNP |
| 13 | g.48381413T>A | CA388163985 | RB1 | c.1665T>A (p.His555Gln) c.164T>A c.1404T>A (p.His468Gln) | dbSNP |
| 13 | g.48381413T>C | CA483559643 | RB1 | c.1665T>C (p.His555=) c.164T>C c.1404T>C (p.His468=) | |
| 13 | g.48381413T>G | CA388163987 | RB1 | c.1665T>G (p.His555Gln) c.164T>G c.1404T>G (p.His468Gln) | |
| 13 | g.48381414C>A | CA483559644 | RB1 | c.1666C>A (p.Arg556=) c.165C>A c.1405C>A (p.Arg469=) | dbSNP |
| 13 | g.48381414C= | CA2089972515 | RB1 | c.1666C= (p.Arg556=) c.165C= c.1405C= (p.Arg469=) | |
| 13 | g.48381414C>G | CA388163988 | RB1 | c.1666C>G (p.Arg556Gly) c.165C>G c.1405C>G (p.Arg469Gly) | dbSNP |
| 13 | g.48381414C>T | CA026386 | RB1 | c.1666C>T (p.Arg556Ter) c.165C>T c.1405C>T (p.Arg469Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.48381415G>A | CA029288 | RB1 | c.1667G>A (p.Arg556Gln) c.166G>A c.1406G>A (p.Arg469Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48381415G>C | CA388163992 | RB1 | c.1667G>C (p.Arg556Pro) c.166G>C c.1406G>C (p.Arg469Pro) |