Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48381248_48381444del | CA645578673 | RB1 | c.1500_1695+1del c.1239_1434+1del | COSMIC |
13 | g.48381314T>A | CA388163544 | RB1 | c.1566T>A (p.Asn522Lys) c.65T>A c.1305T>A (p.Asn435Lys) | dbSNP |
13 | g.48381314T>C | CA483559459 | RB1 | c.1566T>C (p.Asn522=) c.65T>C c.1305T>C (p.Asn435=) | |
13 | g.48381314T>G | CA388163543 | RB1 | c.1566T>G (p.Asn522Lys) c.65T>G c.1305T>G (p.Asn435Lys) | |
13 | g.48381315_48381316dup | CA916081694 | RB1 | c.1567_1568dup (p.Leu523PhefsTer2) c.66_67dup c.1306_1307dup (p.Leu436PhefsTer2) | ClinVar dbSNP |
13 | g.48381315T>A | CA388163545 | RB1 | c.1567T>A (p.Leu523Ile) c.66T>A c.1306T>A (p.Leu436Ile) | |
13 | g.48381315T>C | CA483559461 | RB1 | c.1567T>C (p.Leu523=) c.66T>C c.1306T>C (p.Leu436=) | |
13 | g.48381315T>G | CA388163547 | RB1 | c.1567T>G (p.Leu523Val) c.66T>G c.1306T>G (p.Leu436Val) | |
13 | g.48381316T>A | CA388163549 | RB1 | c.1568T>A (p.Leu523Ter) c.67T>A c.1307T>A (p.Leu436Ter) | ClinVar dbSNP |
13 | g.48381316T>C | CA388163551 | RB1 | c.1568T>C (p.Leu523Ser) c.67T>C c.1307T>C (p.Leu436Ser) | |
13 | g.48381316T>G | CA388163553 | RB1 | c.1568T>G (p.Leu523Ter) c.67T>G c.1307T>G (p.Leu436Ter) | ClinVar |
13 | g.48381316_48381319dup | CA2695218497 | RB1 | c.1568_1571dup (p.Lys524AsnfsTer5) c.67_70dup c.1307_1310dup (p.Lys437AsnfsTer5) | |
13 | g.48381317A>C | CA388163555 | RB1 | c.1569A>C (p.Leu523Phe) c.68A>C c.1308A>C (p.Leu436Phe) | |
13 | g.48381317A>G | CA483559463 | RB1 | c.1569A>G (p.Leu523=) c.68A>G c.1308A>G (p.Leu436=) | |
13 | g.48381317A>T | CA388163556 | RB1 | c.1569A>T (p.Leu523Phe) c.68A>T c.1308A>T (p.Leu436Phe) | dbSNP |
13 | g.48381320dup | CA2580087605 | RB1 | c.1572dup (p.Ala525SerfsTer3) c.71dup c.1311dup (p.Ala438SerfsTer3) | ClinVar |
13 | g.48381319_48381320dup | CA2695218498 | RB1 | c.1571_1572dup (p.Ala525LysfsTer8) c.70_71dup c.1310_1311dup (p.Ala438LysfsTer8) | |
13 | g.48381320del | CA2499222454 | RB1 | c.1572del (p.Ala525ProfsTer7) c.71del c.1311del (p.Ala438ProfsTer7) | ClinVar dbSNP |
13 | g.48381318A>C | CA388163559 | RB1 | c.1570A>C (p.Lys524Gln) c.69A>C c.1309A>C (p.Lys437Gln) | dbSNP |
13 | g.48381318A>G | CA388163561 | RB1 | c.1570A>G (p.Lys524Glu) c.69A>G c.1309A>G (p.Lys437Glu) | |
13 | g.48381318A>T | CA388163562 | RB1 | c.1570A>T (p.Lys524Ter) c.69A>T c.1309A>T (p.Lys437Ter) | dbSNP |
13 | g.48381319A>C | CA388163565 | RB1 | c.1571A>C (p.Lys524Thr) c.70A>C c.1310A>C (p.Lys437Thr) | |
13 | g.48381319A>G | CA388163567 | RB1 | c.1571A>G (p.Lys524Arg) c.70A>G c.1310A>G (p.Lys437Arg) | |
13 | g.48381319A>T | CA388163569 | RB1 | c.1571A>T (p.Lys524Ile) c.70A>T c.1310A>T (p.Lys437Ile) | |
13 | g.48381319_48381321del | CA2695218499 | RB1 | c.1571_1573del (p.Lys524_Ala525delinsThr) c.70_72del c.1310_1312del (p.Lys437_Ala438delinsThr) | |
13 | g.48381319_48381326del | CA645578677 | RB1 | c.1571_1578del (p.Lys524ArgfsTer28) c.70_77del c.1310_1317del (p.Lys437ArgfsTer28) | COSMIC COSMIC |
13 | g.48381320A>C | CA388163570 | RB1 | c.1572A>C (p.Lys524Asn) c.71A>C c.1311A>C (p.Lys437Asn) | |
13 | g.48381320A>G | CA483559465 | RB1 | c.1572A>G (p.Lys524=) c.71A>G c.1311A>G (p.Lys437=) | |
13 | g.48381320A>T | CA388163572 | RB1 | c.1572A>T (p.Lys524Asn) c.71A>T c.1311A>T (p.Lys437Asn) | dbSNP |
13 | g.48381321G>A | CA026380 | RB1 | c.1573G>A (p.Ala525Thr) c.72G>A c.1312G>A (p.Ala438Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.48381321G>C | CA388163576 | RB1 | c.1573G>C (p.Ala525Pro) c.72G>C c.1312G>C (p.Ala438Pro) | dbSNP |
13 | g.48381321G= | CA2089972414 | RB1 | c.1573G= (p.Ala525=) c.72G= c.1312G= (p.Ala438=) | |
13 | g.48381321G>T | CA388163575 | RB1 | c.1573G>T (p.Ala525Ser) c.72G>T c.1312G>T (p.Ala438Ser) | |
13 | g.48381321_48381322delinsGC | CA2089972417 | RB1 | c.1573_1574delinsGC (p.Ala525=) c.72_73delinsGC c.1312_1313delinsGC (p.Ala438=) | |
13 | g.48381322C>A | CA388163580 | RB1 | c.1574C>A (p.Ala525Asp) c.73C>A c.1313C>A (p.Ala438Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.48381322C= | CA2089972425 | RB1 | c.1574C= (p.Ala525=) c.73C= c.1313C= (p.Ala438=) | |
13 | g.48381322C>G | CA026381 | RB1 | c.1574C>G (p.Ala525Gly) c.73C>G c.1313C>G (p.Ala438Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381322C>T | CA388163584 | RB1 | c.1574C>T (p.Ala525Val) c.73C>T c.1313C>T (p.Ala438Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48381323del | CA483559467 | RB1 | c.1575del (p.Phe526LeufsTer6) c.74del c.1314del (p.Phe439LeufsTer6) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48381323C>A | CA483559468 | RB1 | c.1575C>A (p.Ala525=) c.74C>A c.1314C>A (p.Ala438=) | dbSNP |
13 | g.48381323C>G | CA483559469 | RB1 | c.1575C>G (p.Ala525=) c.74C>G c.1314C>G (p.Ala438=) | ClinVar dbSNP |
13 | g.48381323C>T | CA483559470 | RB1 | c.1575C>T (p.Ala525=) c.74C>T c.1314C>T (p.Ala438=) | dbSNP gnomAD v4 COSMIC |
13 | g.48381324T>A | CA388163586 | RB1 | c.1576T>A (p.Phe526Ile) c.75T>A c.1315T>A (p.Phe439Ile) | dbSNP |
13 | g.48381324T>C | CA388163588 | RB1 | c.1576T>C (p.Phe526Leu) c.75T>C c.1315T>C (p.Phe439Leu) | ClinVar dbSNP |
13 | g.48381324T>G | CA388163589 | RB1 | c.1576T>G (p.Phe526Val) c.75T>G c.1315T>G (p.Phe439Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381324T= | CA2089972431 | RB1 | c.1576T= (p.Phe526=) c.75T= c.1315T= (p.Phe439=) | |
13 | g.48381325T>A | CA388163590 | RB1 | c.1577T>A (p.Phe526Tyr) c.76T>A c.1316T>A (p.Phe439Tyr) | dbSNP |
13 | g.48381325T>C | CA388163591 | RB1 | c.1577T>C (p.Phe526Ser) c.76T>C c.1316T>C (p.Phe439Ser) | gnomAD v4 |
13 | g.48381325T>G | CA388163593 | RB1 | c.1577T>G (p.Phe526Cys) c.76T>G c.1316T>G (p.Phe439Cys) | |
13 | g.48381325_48381326delinsAA | CA645578678 | RB1 | c.1577_1578delinsAA (p.Phe526Ter) c.76_77delinsAA c.1316_1317delinsAA (p.Phe439Ter) | COSMIC |