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.48381248_48381444del | CA645578673 | RB1 | c.1500_1695+1del c.1239_1434+1del | COSMIC |
| 13 | g.48381302_48381309del | CA2697551855 | RB1 | c.1554_1561del (p.Asn519Ter) c.53_60del c.1293_1300del (p.Asn432Ter) | ClinVar |
| 13 | g.48381309C>A | CA388163522 | RB1 | c.1561C>A (p.Leu521Ile) c.60C>A c.1300C>A (p.Leu434Ile) | dbSNP |
| 13 | g.48381309C>G | CA388163523 | RB1 | c.1561C>G (p.Leu521Val) c.60C>G c.1300C>G (p.Leu434Val) | ClinVar dbSNP |
| 13 | g.48381309C>T | CA388163525 | RB1 | c.1561C>T (p.Leu521Phe) c.60C>T c.1300C>T (p.Leu434Phe) | dbSNP |
| 13 | g.48381310T>A | CA388163527 | RB1 | c.1562T>A (p.Leu521His) c.61T>A c.1301T>A (p.Leu434His) | ClinVar dbSNP |
| 13 | g.48381310T>C | CA388163529 | RB1 | c.1562T>C (p.Leu521Pro) c.61T>C c.1301T>C (p.Leu434Pro) | dbSNP |
| 13 | g.48381310T>G | CA388163530 | RB1 | c.1562T>G (p.Leu521Arg) c.61T>G c.1301T>G (p.Leu434Arg) | |
| 13 | g.48381311T>A | CA483559453 | RB1 | c.1563T>A (p.Leu521=) c.62T>A c.1302T>A (p.Leu434=) | ClinVar dbSNP |
| 13 | g.48381311T>C | CA483559454 | RB1 | c.1563T>C (p.Leu521=) c.62T>C c.1302T>C (p.Leu434=) | |
| 13 | g.48381311T>G | CA483559456 | RB1 | c.1563T>G (p.Leu521=) c.62T>G c.1302T>G (p.Leu434=) | |
| 13 | g.48381312A>C | CA388163532 | RB1 | c.1564A>C (p.Asn522His) c.63A>C c.1303A>C (p.Asn435His) | ClinVar |
| 13 | g.48381312A>G | CA388163534 | RB1 | c.1564A>G (p.Asn522Asp) c.63A>G c.1303A>G (p.Asn435Asp) | ClinVar dbSNP |
| 13 | g.48381312A>T | CA388163536 | RB1 | c.1564A>T (p.Asn522Tyr) c.63A>T c.1303A>T (p.Asn435Tyr) | dbSNP |
| 13 | g.48381313A= | CA2089972404 | RB1 | c.1565A= (p.Asn522=) c.64A= c.1304A= (p.Asn435=) | |
| 13 | g.48381313A>C | CA388163538 | RB1 | c.1565A>C (p.Asn522Thr) c.64A>C c.1304A>C (p.Asn435Thr) | |
| 13 | g.48381313A>G | CA388163540 | RB1 | c.1565A>G (p.Asn522Ser) c.64A>G c.1304A>G (p.Asn435Ser) | |
| 13 | g.48381313A>T | CA388163541 | RB1 | c.1565A>T (p.Asn522Ile) c.64A>T c.1304A>T (p.Asn435Ile) | |
| 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 |
| 13 | g.48381326T>A | CA388163595 | RB1 | c.1578T>A (p.Phe526Leu) c.77T>A c.1317T>A (p.Phe439Leu) | dbSNP |
| 13 | g.48381326T>C | CA483559471 | RB1 | c.1578T>C (p.Phe526=) c.77T>C c.1317T>C (p.Phe439=) | |
| 13 | g.48381326T>G | CA388163596 | RB1 | c.1578T>G (p.Phe526Leu) c.77T>G c.1317T>G (p.Phe439Leu) | |
| 13 | g.48381327del | CA2695218500 | RB1 | c.1579del (p.Asp527IlefsTer5) c.78del c.1318del (p.Asp440IlefsTer5) | |
| 13 | g.48381327G>A | CA388163598 | RB1 | c.1579G>A (p.Asp527Asn) c.78G>A c.1318G>A (p.Asp440Asn) | dbSNP gnomAD v4 |
| 13 | g.48381327G>C | CA388163600 | RB1 | c.1579G>C (p.Asp527His) c.78G>C c.1318G>C (p.Asp440His) | dbSNP |
| 13 | g.48381327G>T | CA388163602 | RB1 | c.1579G>T (p.Asp527Tyr) c.78G>T c.1318G>T (p.Asp440Tyr) | dbSNP |
| 13 | g.48381328A= | CA2089972432 | RB1 | c.1580A= (p.Asp527=) c.79A= c.1319A= (p.Asp440=) | |
| 13 | g.48381328A>C | CA388163609 | RB1 | c.1580A>C (p.Asp527Ala) c.79A>C c.1319A>C (p.Asp440Ala) | |
| 13 | g.48381328A>G | CA388163607 | RB1 | c.1580A>G (p.Asp527Gly) c.79A>G c.1319A>G (p.Asp440Gly) | |
| 13 | g.48381328A>T | CA388163605 | RB1 | c.1580A>T (p.Asp527Val) c.79A>T c.1319A>T (p.Asp440Val) | |
| 13 | g.48381329T>A | CA388163611 | RB1 | c.1581T>A (p.Asp527Glu) c.80T>A c.1320T>A (p.Asp440Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48381329T>C | CA483559474 | RB1 | c.1581T>C (p.Asp527=) c.80T>C c.1320T>C (p.Asp440=) | gnomAD v4 |
| 13 | g.48381329T>G | CA388163613 | RB1 | c.1581T>G (p.Asp527Glu) c.80T>G c.1320T>G (p.Asp440Glu) | |
| 13 | g.48381329T= | CA2089972439 | RB1 | c.1581T= (p.Asp527=) c.80T= c.1320T= (p.Asp440=) | |
| 13 | g.48381333dup | CA026382 | RB1 | c.1585dup (p.Tyr529LeufsTer26) c.84dup c.1324dup (p.Tyr442LeufsTer26) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 13 | g.48381333del | CA483559475 | RB1 | c.1585del (p.Tyr529ThrfsTer3) c.84del c.1324del (p.Tyr442ThrfsTer3) | COSMIC COSMIC |
| 13 | g.48381330T>A | CA388163616 | RB1 | c.1582T>A (p.Phe528Ile) c.81T>A c.1321T>A (p.Phe441Ile) | dbSNP |
| 13 | g.48381330T>C | CA388163618 | RB1 | c.1582T>C (p.Phe528Leu) c.81T>C c.1321T>C (p.Phe441Leu) | |
| 13 | g.48381330T>G | CA388163620 | RB1 | c.1582T>G (p.Phe528Val) c.81T>G c.1321T>G (p.Phe441Val) | |
| 13 | g.48381330T= | CA2089972442 | RB1 | c.1582T= (p.Phe528=) c.81T= c.1321T= (p.Phe441=) | |
| 13 | g.48381331T>A | CA388163622 | RB1 | c.1583T>A (p.Phe528Tyr) c.82T>A c.1322T>A (p.Phe441Tyr) | |
| 13 | g.48381331T>C | CA388163624 | RB1 | c.1583T>C (p.Phe528Ser) c.82T>C c.1322T>C (p.Phe441Ser) | |
| 13 | g.48381331T>G | CA388163626 | RB1 | c.1583T>G (p.Phe528Cys) c.82T>G c.1322T>G (p.Phe441Cys) | |
| 13 | g.48381332_48381333insCACTT | CA916081695 | RB1 | c.1584_1585insCACTT (p.Tyr529HisfsTer5) c.83_84insCACTT c.1323_1324insCACTT (p.Tyr442HisfsTer5) | ClinVar dbSNP |
| 13 | g.48381332T>A | CA388163628 | RB1 | c.1584T>A (p.Phe528Leu) c.83T>A c.1323T>A (p.Phe441Leu) | dbSNP |
| 13 | g.48381332T>C | CA483559477 | RB1 | c.1584T>C (p.Phe528=) c.83T>C c.1323T>C (p.Phe441=) | ClinVar dbSNP |
| 13 | g.48381332T>G | CA388163630 | RB1 | c.1584T>G (p.Phe528Leu) c.83T>G c.1323T>G (p.Phe441Leu) | |
| 13 | g.48381333T>A | CA388163632 | RB1 | c.1585T>A (p.Tyr529Asn) c.84T>A c.1324T>A (p.Tyr442Asn) | |
| 13 | g.48381333T>C | CA388163633 | RB1 | c.1585T>C (p.Tyr529His) c.84T>C c.1324T>C (p.Tyr442His) | dbSNP |
| 13 | g.48381333T>G | CA388163634 | RB1 | c.1585T>G (p.Tyr529Asp) c.84T>G c.1324T>G (p.Tyr442Asp) | |
| 13 | g.48381334A= | CA2089972447 | RB1 | c.1586A= (p.Tyr529=) c.85A= c.1325A= (p.Tyr442=) | |
| 13 | g.48381334A>C | CA388163640 | RB1 | c.1586A>C (p.Tyr529Ser) c.85A>C c.1325A>C (p.Tyr442Ser) | dbSNP |
| 13 | g.48381334A>G | CA388163639 | RB1 | c.1586A>G (p.Tyr529Cys) c.85A>G c.1325A>G (p.Tyr442Cys) | dbSNP |
| 13 | g.48381334A>T | CA388163637 | RB1 | c.1586A>T (p.Tyr529Phe) c.85A>T c.1325A>T (p.Tyr442Phe) | dbSNP |
| 13 | g.48381334_48381335insT | CA483559478 | RB1 | c.1586_1587insT (p.Lys530GlnfsTer25) c.85_86insT c.1325_1326insT (p.Lys443GlnfsTer25) | |
| 13 | g.48381335C>A | CA388163642 | RB1 | c.1587C>A (p.Tyr529Ter) c.86C>A c.1326C>A (p.Tyr442Ter) | ClinVar dbSNP |
| 13 | g.48381335C= | CA2089972448 | RB1 | c.1587C= (p.Tyr529=) c.86C= c.1326C= (p.Tyr442=) | |
| 13 | g.48381335C>G | CA388163644 | RB1 | c.1587C>G (p.Tyr529Ter) c.86C>G c.1326C>G (p.Tyr442Ter) | dbSNP |
| 13 | g.48381335C>T | CA483559480 | RB1 | c.1587C>T (p.Tyr529=) c.86C>T c.1326C>T (p.Tyr442=) | ClinVar dbSNP |
| 13 | g.48381336A>C | CA388163646 | RB1 | c.1588A>C (p.Lys530Gln) c.87A>C c.1327A>C (p.Lys443Gln) | |
| 13 | g.48381336A>G | CA388163648 | RB1 | c.1588A>G (p.Lys530Glu) c.87A>G c.1327A>G (p.Lys443Glu) | |
| 13 | g.48381336A>T | CA388163650 | RB1 | c.1588A>T (p.Lys530Ter) c.87A>T c.1327A>T (p.Lys443Ter) | dbSNP COSMIC COSMIC |
| 13 | g.48381338del | CA2580087608 | RB1 | c.1590del (p.Val531Ter) c.89del c.1329del (p.Val444Ter) | ClinVar |
| 13 | g.48381336_48381343del | CA2728038099 | RB1 | c.1588_1595del (p.Lys530ArgfsTer22) c.87_94del c.1327_1334del (p.Lys443ArgfsTer22) | dbSNP |
| 13 | g.48381337A= | CA2089972451 | RB1 | c.1589A= (p.Lys530=) c.88A= c.1328A= (p.Lys443=) | |
| 13 | g.48381337A>C | CA388163653 | RB1 | c.1589A>C (p.Lys530Thr) c.88A>C c.1328A>C (p.Lys443Thr) | |
| 13 | g.48381337A>G | CA388163655 | RB1 | c.1589A>G (p.Lys530Arg) c.88A>G c.1328A>G (p.Lys443Arg) | ClinVar dbSNP |
| 13 | g.48381337A>T | CA388163657 | RB1 | c.1589A>T (p.Lys530Ile) c.88A>T c.1328A>T (p.Lys443Ile) | dbSNP |
| 13 | g.48381338A>C | CA388163660 | RB1 | c.1590A>C (p.Lys530Asn) c.89A>C c.1329A>C (p.Lys443Asn) | |
| 13 | g.48381338A>G | CA483559483 | RB1 | c.1590A>G (p.Lys530=) c.89A>G c.1329A>G (p.Lys443=) | |
| 13 | g.48381338A>T | CA388163661 | RB1 | c.1590A>T (p.Lys530Asn) c.89A>T c.1329A>T (p.Lys443Asn) | dbSNP |
| 13 | g.48381339G>A | CA388163664 | RB1 | c.1591G>A (p.Val531Met) c.90G>A c.1330G>A (p.Val444Met) | dbSNP gnomAD v4 |
| 13 | g.48381339G>C | CA388163666 | RB1 | c.1591G>C (p.Val531Leu) c.90G>C c.1330G>C (p.Val444Leu) | dbSNP |
| 13 | g.48381339G>T | CA388163667 | RB1 | c.1591G>T (p.Val531Leu) c.90G>T c.1330G>T (p.Val444Leu) | dbSNP |
| 13 | g.48381339_48381340insGAA | CA2728038514 | RB1 | c.1591_1592insGAA (p.Val531delinsGlyMet) c.90_91insGAA c.1330_1331insGAA (p.Val444delinsGlyMet) | dbSNP |
| 13 | g.48381340T>A | CA388163669 | RB1 | c.1592T>A (p.Val531Glu) c.91T>A c.1331T>A (p.Val444Glu) | dbSNP |
| 13 | g.48381340T>C | CA388163671 | RB1 | c.1592T>C (p.Val531Ala) c.91T>C c.1331T>C (p.Val444Ala) | ClinVar |
| 13 | g.48381340T>G | CA249281949 | RB1 | c.1592T>G (p.Val531Gly) c.91T>G c.1331T>G (p.Val444Gly) | ClinVar dbSNP |
| 13 | g.48381340T= | CA2089972452 | RB1 | c.1592T= (p.Val531=) c.91T= c.1331T= (p.Val444=) | |
| 13 | g.48381341del | CA2573053838 | RB1 | c.1593del (p.Ile532SerfsTer11) c.92del c.1332del (p.Ile445SerfsTer11) | ClinVar dbSNP |
| 13 | g.48381341G>A | CA483559487 | RB1 | c.1593G>A (p.Val531=) c.92G>A c.1332G>A (p.Val444=) | dbSNP |
| 13 | g.48381341G>C | CA483559486 | RB1 | c.1593G>C (p.Val531=) c.92G>C c.1332G>C (p.Val444=) | dbSNP |
| 13 | g.48381341G>T | CA483559484 | RB1 | c.1593G>T (p.Val531=) c.92G>T c.1332G>T (p.Val444=) | dbSNP |
| 13 | g.48381341delinsTTT | CA2695218501 | RB1 | c.1593delinsTTT (p.Ile532LeufsTer12) c.92delinsTTT c.1332delinsTTT (p.Ile445LeufsTer12) | |
| 13 | g.48381342A>C | CA388163673 | RB1 | c.1594A>C (p.Ile532Leu) c.93A>C c.1333A>C (p.Ile445Leu) | |
| 13 | g.48381342A>G | CA388163678 | RB1 | c.1594A>G (p.Ile532Val) c.93A>G c.1333A>G (p.Ile445Val) | ClinVar dbSNP |
| 13 | g.48381342A>T | CA388163676 | RB1 | c.1594A>T (p.Ile532Phe) c.93A>T c.1333A>T (p.Ile445Phe) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48381343T>A | CA388163680 | RB1 | c.1595T>A (p.Ile532Asn) c.94T>A c.1334T>A (p.Ile445Asn) | ClinVar dbSNP |
| 13 | g.48381343T>C | CA388163682 | RB1 | c.1595T>C (p.Ile532Thr) c.94T>C c.1334T>C (p.Ile445Thr) | dbSNP |
| 13 | g.48381343T>G | CA388163684 | RB1 | c.1595T>G (p.Ile532Ser) c.94T>G c.1334T>G (p.Ile445Ser) | gnomAD v4 |
| 13 | g.48381343T= | CA2089972455 | RB1 | c.1595T= (p.Ile532=) c.94T= c.1334T= (p.Ile445=) | |
| 13 | g.48381344C>A | CA029120 | RB1 | c.1596C>A (p.Ile532=) c.95C>A c.1335C>A (p.Ile445=) | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.48381344C= | CA2089972460 | RB1 | c.1596C= (p.Ile532=) c.95C= c.1335C= (p.Ile445=) | |
| 13 | g.48381344C>G | CA388163688 | RB1 | c.1596C>G (p.Ile532Met) c.95C>G c.1335C>G (p.Ile445Met) | |
| 13 | g.48381344C>T | CA029127 | RB1 | c.1596C>T (p.Ile532=) c.95C>T c.1335C>T (p.Ile445=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.48381345G>A | CA388163690 | RB1 | c.1597G>A (p.Glu533Lys) c.96G>A c.1336G>A (p.Glu446Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48381345G>C | CA388163692 | RB1 | c.1597G>C (p.Glu533Gln) c.96G>C c.1336G>C (p.Glu446Gln) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48381345G= | CA2089972462 | RB1 | c.1597G= (p.Glu533=) c.96G= c.1336G= (p.Glu446=) | |
| 13 | g.48381345G>T | CA388163694 | RB1 | c.1597G>T (p.Glu533Ter) c.96G>T c.1336G>T (p.Glu446Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48381346A>C | CA388163698 | RB1 | c.1598A>C (p.Glu533Ala) c.97A>C c.1337A>C (p.Glu446Ala) | |
| 13 | g.48381346A>G | CA388163699 | RB1 | c.1598A>G (p.Glu533Gly) c.97A>G c.1337A>G (p.Glu446Gly) | |
| 13 | g.48381346A>T | CA388163701 | RB1 | c.1598A>T (p.Glu533Val) c.97A>T c.1337A>T (p.Glu446Val) | dbSNP |
| 13 | g.48381347A>C | CA388163704 | RB1 | c.1599A>C (p.Glu533Asp) c.98A>C c.1338A>C (p.Glu446Asp) | |
| 13 | g.48381347A>G | CA483559491 | RB1 | c.1599A>G (p.Glu533=) c.98A>G c.1338A>G (p.Glu446=) | |
| 13 | g.48381347A>T | CA388163705 | RB1 | c.1599A>T (p.Glu533Asp) c.98A>T c.1338A>T (p.Glu446Asp) | gnomAD v4 |
| 13 | g.48381348A>C | CA388163708 | RB1 | c.1600A>C (p.Ser534Arg) c.99A>C c.1339A>C (p.Ser447Arg) | |
| 13 | g.48381348A>G | CA388163710 | RB1 | c.1600A>G (p.Ser534Gly) c.99A>G c.1339A>G (p.Ser447Gly) | gnomAD v4 |
| 13 | g.48381348A>T | CA388163713 | RB1 | c.1600A>T (p.Ser534Cys) c.99A>T c.1339A>T (p.Ser447Cys) | dbSNP |
| 13 | g.48381349G>A | CA388163716 | RB1 | c.1601G>A (p.Ser534Asn) c.100G>A c.1340G>A (p.Ser447Asn) | |
| 13 | g.48381349G>C | CA388163717 | RB1 | c.1601G>C (p.Ser534Thr) c.100G>C c.1340G>C (p.Ser447Thr) | |
| 13 | g.48381349G>T | CA388163718 | RB1 | c.1601G>T (p.Ser534Ile) c.100G>T c.1340G>T (p.Ser447Ile) | |
| 13 | g.48381350T>A | CA388163719 | RB1 | c.1602T>A (p.Ser534Arg) c.101T>A c.1341T>A (p.Ser447Arg) | dbSNP |
| 13 | g.48381350T>C | CA483559493 | RB1 | c.1602T>C (p.Ser534=) c.101T>C c.1341T>C (p.Ser447=) | dbSNP gnomAD v4 |
| 13 | g.48381350T>G | CA388163720 | RB1 | c.1602T>G (p.Ser534Arg) c.101T>G c.1341T>G (p.Ser447Arg) | |
| 13 | g.48381350T= | CA2089972463 | RB1 | c.1602T= (p.Ser534=) c.101T= c.1341T= (p.Ser447=) | |
| 13 | g.48381353del | CA2695218502 | RB1 | c.1605del (p.Phe535LeufsTer8) c.104del c.1344del (p.Phe448LeufsTer8) | |
| 13 | g.48381351T>A | CA388163722 | RB1 | c.1603T>A (p.Phe535Ile) c.102T>A c.1342T>A (p.Phe448Ile) | |
| 13 | g.48381351T>C | CA388163723 | RB1 | c.1603T>C (p.Phe535Leu) c.102T>C c.1342T>C (p.Phe448Leu) | gnomAD v4 |
| 13 | g.48381351T>G | CA388163725 | RB1 | c.1603T>G (p.Phe535Val) c.102T>G c.1342T>G (p.Phe448Val) | |
| 13 | g.48381352T>A | CA388163729 | RB1 | c.1604T>A (p.Phe535Tyr) c.103T>A c.1343T>A (p.Phe448Tyr) | dbSNP |
| 13 | g.48381352T>C | CA388163731 | RB1 | c.1604T>C (p.Phe535Ser) c.103T>C c.1343T>C (p.Phe448Ser) | dbSNP |
| 13 | g.48381352T>G | CA388163728 | RB1 | c.1604T>G (p.Phe535Cys) c.103T>G c.1343T>G (p.Phe448Cys) | |
| 13 | g.48381353T>A | CA388163734 | RB1 | c.1605T>A (p.Phe535Leu) c.104T>A c.1344T>A (p.Phe448Leu) | |
| 13 | g.48381353T>C | CA483559495 | RB1 | c.1605T>C (p.Phe535=) c.104T>C c.1344T>C (p.Phe448=) | dbSNP |
| 13 | g.48381353T>G | CA388163735 | RB1 | c.1605T>G (p.Phe535Leu) c.104T>G c.1344T>G (p.Phe448Leu) | |
| 13 | g.48381353T= | CA2089972465 | RB1 | c.1605T= (p.Phe535=) c.104T= c.1344T= (p.Phe448=) | |
| 13 | g.48381354A= | CA2089972466 | RB1 | c.1606A= (p.Ile536=) c.105A= c.1345A= (p.Ile449=) | |
| 13 | g.48381354A>C | CA388163738 | RB1 | c.1606A>C (p.Ile536Leu) c.105A>C c.1345A>C (p.Ile449Leu) | |
| 13 | g.48381354A>G | CA388163739 | RB1 | c.1606A>G (p.Ile536Val) c.105A>G c.1345A>G (p.Ile449Val) | ClinVar dbSNP |
| 13 | g.48381354A>T | CA388163740 | RB1 | c.1606A>T (p.Ile536Phe) c.105A>T c.1345A>T (p.Ile449Phe) | dbSNP |
| 13 | g.48381355T>A | CA388163741 | RB1 | c.1607T>A (p.Ile536Asn) c.106T>A c.1346T>A (p.Ile449Asn) | dbSNP |
| 13 | g.48381355T>C | CA388163742 | RB1 | c.1607T>C (p.Ile536Thr) c.106T>C c.1346T>C (p.Ile449Thr) | |
| 13 | g.48381355T>G | CA388163743 | RB1 | c.1607T>G (p.Ile536Ser) c.106T>G c.1346T>G (p.Ile449Ser) | |
| 13 | g.48381356C>A | CA483559497 | RB1 | c.1608C>A (p.Ile536=) c.107C>A c.1347C>A (p.Ile449=) | ClinVar |
| 13 | g.48381356C= | CA2089972468 | RB1 | c.1608C= (p.Ile536=) c.107C= c.1347C= (p.Ile449=) | |
| 13 | g.48381356C>G | CA388163744 | RB1 | c.1608C>G (p.Ile536Met) c.107C>G c.1347C>G (p.Ile449Met) | ClinVar dbSNP |
| 13 | g.48381356C>T | CA483559499 | RB1 | c.1608C>T (p.Ile536=) c.107C>T c.1347C>T (p.Ile449=) | dbSNP |
| 13 | g.48381357_48381358insGACA | CA2568560401 | RB1 | c.1609_1610insGACA (p.Lys537ArgfsTer19) c.108_109insGACA c.1348_1349insGACA (p.Lys450ArgfsTer19) | |
| 13 | g.48381357A>C | CA388163745 | RB1 | c.1609A>C (p.Lys537Gln) c.108A>C c.1348A>C (p.Lys450Gln) | |
| 13 | g.48381357A>G | CA388163746 | RB1 | c.1609A>G (p.Lys537Glu) c.108A>G c.1348A>G (p.Lys450Glu) | |
| 13 | g.48381357A>T | CA388163748 | RB1 | c.1609A>T (p.Lys537Ter) c.108A>T c.1348A>T (p.Lys450Ter) | dbSNP |
| 13 | g.48381358A>C | CA388163752 | RB1 | c.1610A>C (p.Lys537Thr) c.109A>C c.1349A>C (p.Lys450Thr) | |
| 13 | g.48381358A>G | CA388163754 | RB1 | c.1610A>G (p.Lys537Arg) c.109A>G c.1349A>G (p.Lys450Arg) | |
| 13 | g.48381358A>T | CA388163750 | RB1 | c.1610A>T (p.Lys537Ile) c.109A>T c.1349A>T (p.Lys450Ile) | dbSNP |
| 13 | g.48381359A>C | CA388163755 | RB1 | c.1611A>C (p.Lys537Asn) c.110A>C c.1350A>C (p.Lys450Asn) | gnomAD v4 |
| 13 | g.48381359A>G | CA483559503 | RB1 | c.1611A>G (p.Lys537=) c.110A>G c.1350A>G (p.Lys450=) | |
| 13 | g.48381359A>T | CA388163757 | RB1 | c.1611A>T (p.Lys537Asn) c.110A>T c.1350A>T (p.Lys450Asn) | dbSNP |
| 13 | g.48381360G>A | CA388163760 | RB1 | c.1612G>A (p.Ala538Thr) c.111G>A c.1351G>A (p.Ala451Thr) | dbSNP |
| 13 | g.48381360G>C | CA388163761 | RB1 | c.1612G>C (p.Ala538Pro) c.111G>C c.1351G>C (p.Ala451Pro) | dbSNP |
| 13 | g.48381360G>T | CA388163762 | RB1 | c.1612G>T (p.Ala538Ser) c.111G>T c.1351G>T (p.Ala451Ser) | |
| 13 | g.48381360_48381361insAAAA | CA2553717066 | RB1 | c.1612_1613insAAAA (p.Ala538GlufsTer18) c.111_112insAAAA c.1351_1352insAAAA (p.Ala451GlufsTer18) | |
| 13 | g.48381361del | CA2695218503 | RB1 | c.1613del (p.Ala538GlufsTer5) c.112del c.1352del (p.Ala451GlufsTer5) | |
| 13 | g.48381361C>A | CA388163767 | RB1 | c.1613C>A (p.Ala538Glu) c.112C>A c.1352C>A (p.Ala451Glu) | dbSNP |
| 13 | g.48381361C>G | CA388163764 | RB1 | c.1613C>G (p.Ala538Gly) c.112C>G c.1352C>G (p.Ala451Gly) | dbSNP |
| 13 | g.48381361C>T | CA388163766 | RB1 | c.1613C>T (p.Ala538Val) c.112C>T c.1352C>T (p.Ala451Val) | ClinVar dbSNP |
| 13 | g.48381362A>C | CA483559507 | RB1 | c.1614A>C (p.Ala538=) c.113A>C c.1353A>C (p.Ala451=) | |
| 13 | g.48381362A>G | CA483559508 | RB1 | c.1614A>G (p.Ala538=) c.113A>G c.1353A>G (p.Ala451=) | gnomAD v4 |
| 13 | g.48381362A>T | CA483559509 | RB1 | c.1614A>T (p.Ala538=) c.113A>T c.1353A>T (p.Ala451=) | dbSNP |
| 13 | g.48381366_48381383del | CA2695218504 | RB1 | c.1618_1635del (p.Gly540_Glu545del) c.117_134del c.1357_1374del (p.Gly453_Glu458del) | |
| 13 | g.48381363G>A | CA249281961 | RB1 | c.1615G>A (p.Glu539Lys) c.114G>A c.1354G>A (p.Glu452Lys) | dbSNP |
| 13 | g.48381363G>C | CA388163771 | RB1 | c.1615G>C (p.Glu539Gln) c.114G>C c.1354G>C (p.Glu452Gln) | dbSNP |
| 13 | g.48381363G= | CA2089972470 | RB1 | c.1615G= (p.Glu539=) c.114G= c.1354G= (p.Glu452=) | |
| 13 | g.48381363G>T | CA388163773 | RB1 | c.1615G>T (p.Glu539Ter) c.114G>T c.1354G>T (p.Glu452Ter) | |
| 13 | g.48381364A>C | CA388163775 | RB1 | c.1616A>C (p.Glu539Ala) c.115A>C c.1355A>C (p.Glu452Ala) | |
| 13 | g.48381364A>G | CA388163777 | RB1 | c.1616A>G (p.Glu539Gly) c.115A>G c.1355A>G (p.Glu452Gly) | |
| 13 | g.48381364A>T | CA388163778 | RB1 | c.1616A>T (p.Glu539Val) c.115A>T c.1355A>T (p.Glu452Val) | dbSNP |
| 13 | g.48381365A= | CA2089972471 | RB1 | c.1617A= (p.Glu539=) c.116A= c.1356A= (p.Glu452=) | |
| 13 | g.48381365A>C | CA029151 | RB1 | c.1617A>C (p.Glu539Asp) c.116A>C c.1356A>C (p.Glu452Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48381365A>G | CA483559513 | RB1 | c.1617A>G (p.Glu539=) c.116A>G c.1356A>G (p.Glu452=) | gnomAD v4 |
| 13 | g.48381365A>T | CA388163780 | RB1 | c.1617A>T (p.Glu539Asp) c.116A>T c.1356A>T (p.Glu452Asp) | dbSNP |
| 13 | g.48381366G>A | CA388163782 | RB1 | c.1618G>A (p.Gly540Ser) c.117G>A c.1357G>A (p.Gly453Ser) | dbSNP gnomAD v4 |
| 13 | g.48381366G>C | CA388163785 | RB1 | c.1618G>C (p.Gly540Arg) c.117G>C c.1357G>C (p.Gly453Arg) | dbSNP |
| 13 | g.48381366G>T | CA388163784 | RB1 | c.1618G>T (p.Gly540Cys) c.117G>T c.1357G>T (p.Gly453Cys) | dbSNP |
| 13 | g.48381366_48381367del | CA2695218505 | RB1 | c.1618_1619del (p.Gly540GlnfsTer14) c.117_118del c.1357_1358del (p.Gly453GlnfsTer14) | |
| 13 | g.48381367G>A | CA388163787 | RB1 | c.1619G>A (p.Gly540Asp) c.118G>A c.1358G>A (p.Gly453Asp) | ClinVar dbSNP |
| 13 | g.48381367G>C | CA388163789 | RB1 | c.1619G>C (p.Gly540Ala) c.118G>C c.1358G>C (p.Gly453Ala) | dbSNP |
| 13 | g.48381367G= | CA2089972474 | RB1 | c.1619G= (p.Gly540=) c.118G= c.1358G= (p.Gly453=) | |
| 13 | g.48381367G>T | CA029168 | RB1 | c.1619G>T (p.Gly540Val) c.118G>T c.1358G>T (p.Gly453Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48381368C>A | CA483559515 | RB1 | c.1620C>A (p.Gly540=) c.119C>A c.1359C>A (p.Gly453=) | dbSNP |
| 13 | g.48381368C>G | CA483559516 | RB1 | c.1620C>G (p.Gly540=) c.119C>G c.1359C>G (p.Gly453=) | dbSNP |
| 13 | g.48381368C>T | CA483559517 | RB1 | c.1620C>T (p.Gly540=) c.119C>T c.1359C>T (p.Gly453=) | dbSNP COSMIC COSMIC |
| 13 | g.48381369A>C | CA388163791 | RB1 | c.1621A>C (p.Asn541His) c.120A>C c.1360A>C (p.Asn454His) | |
| 13 | g.48381369A>G | CA388163793 | RB1 | c.1621A>G (p.Asn541Asp) c.120A>G c.1360A>G (p.Asn454Asp) | |
| 13 | g.48381369A>T | CA388163795 | RB1 | c.1621A>T (p.Asn541Tyr) c.120A>T c.1360A>T (p.Asn454Tyr) | dbSNP |
| 13 | g.48381370A= | CA2089972476 | RB1 | c.1622A= (p.Asn541=) c.121A= c.1361A= (p.Asn454=) | |
| 13 | g.48381370A>C | CA388163796 | RB1 | c.1622A>C (p.Asn541Thr) c.121A>C c.1361A>C (p.Asn454Thr) | dbSNP |
| 13 | g.48381370A>G | CA388163797 | RB1 | c.1622A>G (p.Asn541Ser) c.121A>G c.1361A>G (p.Asn454Ser) | dbSNP |
| 13 | g.48381370A>T | CA388163798 | RB1 | c.1622A>T (p.Asn541Ile) c.121A>T c.1361A>T (p.Asn454Ile) | dbSNP |
| 13 | g.48381371del | CA923726263 | RB1 | c.1623del (p.Leu542Ter) c.122del c.1362del (p.Leu455Ter) | ClinVar |
| 13 | g.48381371C>A | CA388163800 | RB1 | c.1623C>A (p.Asn541Lys) c.122C>A c.1362C>A (p.Asn454Lys) | dbSNP |
| 13 | g.48381371C>G | CA388163801 | RB1 | c.1623C>G (p.Asn541Lys) c.122C>G c.1362C>G (p.Asn454Lys) | dbSNP |
| 13 | g.48381371C>T | CA483559521 | RB1 | c.1623C>T (p.Asn541=) c.122C>T c.1362C>T (p.Asn454=) | dbSNP |
| 13 | g.48381372T>A | CA388163804 | RB1 | c.1624T>A (p.Leu542Met) c.123T>A c.1363T>A (p.Leu455Met) | dbSNP |
| 13 | g.48381372T>C | CA483559524 | RB1 | c.1624T>C (p.Leu542=) c.123T>C c.1363T>C (p.Leu455=) | dbSNP gnomAD v4 |
| 13 | g.48381372T>G | CA388163805 | RB1 | c.1624T>G (p.Leu542Val) c.123T>G c.1363T>G (p.Leu455Val) | gnomAD v4 |
| 13 | g.48381373T>A | CA388163807 | RB1 | c.1625T>A (p.Leu542Ter) c.124T>A c.1364T>A (p.Leu455Ter) | ClinVar dbSNP |
| 13 | g.48381373T>C | CA388163811 | RB1 | c.1625T>C (p.Leu542Ser) c.124T>C c.1364T>C (p.Leu455Ser) | dbSNP |
| 13 | g.48381373T>G | CA388163809 | RB1 | c.1625T>G (p.Leu542Trp) c.124T>G c.1364T>G (p.Leu455Trp) | |
| 13 | g.48381373T= | CA2089972478 | RB1 | c.1625T= (p.Leu542=) c.124T= c.1364T= (p.Leu455=) | |
| 13 | g.48381374G>A | CA483559531 | RB1 | c.1626G>A (p.Leu542=) c.125G>A c.1365G>A (p.Leu455=) | dbSNP |
| 13 | g.48381374G>C | CA388163813 | RB1 | c.1626G>C (p.Leu542Phe) c.125G>C c.1365G>C (p.Leu455Phe) | dbSNP |
| 13 | g.48381374G>T | CA388163815 | RB1 | c.1626G>T (p.Leu542Phe) c.125G>T c.1365G>T (p.Leu455Phe) | dbSNP |
| 13 | g.48381375A>C | CA388163817 | RB1 | c.1627A>C (p.Thr543Pro) c.126A>C c.1366A>C (p.Thr456Pro) | dbSNP gnomAD v4 |
| 13 | g.48381375A>G | CA388163818 | RB1 | c.1627A>G (p.Thr543Ala) c.126A>G c.1366A>G (p.Thr456Ala) | gnomAD v4 |
| 13 | g.48381375A>T | CA388163820 | RB1 | c.1627A>T (p.Thr543Ser) c.126A>T c.1366A>T (p.Thr456Ser) | dbSNP |
| 13 | g.48381376C>A | CA388163822 | RB1 | c.1628C>A (p.Thr543Lys) c.127C>A c.1367C>A (p.Thr456Lys) | |
| 13 | g.48381376C>G | CA388163824 | RB1 | c.1628C>G (p.Thr543Arg) c.127C>G c.1367C>G (p.Thr456Arg) | dbSNP |
| 13 | g.48381376C>T | CA388163826 | RB1 | c.1628C>T (p.Thr543Ile) c.127C>T c.1367C>T (p.Thr456Ile) | dbSNP |
| 13 | g.48381376_48381378delinsCAA | CA2089972480 | RB1 | c.1628_1630delinsCAA (p.Thr543=) c.127_129delinsCAA c.1367_1369delinsCAA (p.Thr456=) | |
| 13 | g.48381377A= | CA2089972482 | RB1 | c.1629A= (p.Thr543=) c.128A= c.1368A= (p.Thr456=) | |
| 13 | g.48381377A>C | CA483559536 | RB1 | c.1629A>C (p.Thr543=) c.128A>C c.1368A>C (p.Thr456=) | |
| 13 | g.48381377A>G | CA483559537 | RB1 | c.1629A>G (p.Thr543=) c.128A>G c.1368A>G (p.Thr456=) | |
| 13 | g.48381377A>T | CA483559538 | RB1 | c.1629A>T (p.Thr543=) c.128A>T c.1368A>T (p.Thr456=) | ClinVar dbSNP |
| 13 | g.48381377_48381378del | CA915948555 | RB1 | c.1629_1630del (p.Glu545AsnfsTer9) c.128_129del c.1368_1369del (p.Glu458AsnfsTer9) | ClinVar dbSNP |
| 13 | g.48381378del | CA913189107 | RB1 | c.1630del (p.Arg544GlufsTer3) c.129del c.1369del (p.Arg457GlufsTer3) | |
| 13 | g.48381378A>C | CA483559541 | RB1 | c.1630A>C (p.Arg544=) c.129A>C c.1369A>C (p.Arg457=) | |
| 13 | g.48381378A>G | CA388163828 | RB1 | c.1630A>G (p.Arg544Gly) c.129A>G c.1369A>G (p.Arg457Gly) | ClinVar dbSNP |
| 13 | g.48381378A>T | CA388163830 | RB1 | c.1630A>T (p.Arg544Ter) c.129A>T c.1369A>T (p.Arg457Ter) | dbSNP |
| 13 | g.48381379G>A | CA249281976 | RB1 | c.1631G>A (p.Arg544Lys) c.130G>A c.1370G>A (p.Arg457Lys) | dbSNP |
| 13 | g.48381379G>C | CA388163834 | RB1 | c.1631G>C (p.Arg544Thr) c.130G>C c.1370G>C (p.Arg457Thr) | |
| 13 | g.48381379G= | CA2089972484 | RB1 | c.1631G= (p.Arg544=) c.130G= c.1370G= (p.Arg457=) | |
| 13 | g.48381379G>T | CA388163832 | RB1 | c.1631G>T (p.Arg544Ile) c.130G>T c.1370G>T (p.Arg457Ile) | |
| 13 | g.48381380A= | CA2089972487 | RB1 | c.1632A= (p.Arg544=) c.131A= c.1371A= (p.Arg457=) | |
| 13 | g.48381380A>C | CA388163837 | RB1 | c.1632A>C (p.Arg544Ser) c.131A>C c.1371A>C (p.Arg457Ser) | |
| 13 | g.48381380A>G | CA029191 | RB1 | c.1632A>G (p.Arg544=) c.131A>G c.1371A>G (p.Arg457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48381380A>T | CA029212 | RB1 | c.1632A>T (p.Arg544Ser) c.131A>T c.1371A>T (p.Arg457Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.48381380_48381388delinsAGAAATGAT | CA2089972489 | RB1 | c.1632_1640delinsAGAAATGAT (p.Arg544=) c.131_139delinsAGAAATGAT c.1371_1379delinsAGAAATGAT (p.Arg457=) | |
| 13 | g.48381381G>A | CA388163838 | RB1 | c.1633G>A (p.Glu545Lys) c.132G>A c.1372G>A (p.Glu458Lys) | dbSNP |
| 13 | g.48381381G>C | CA388163839 | RB1 | c.1633G>C (p.Glu545Gln) c.132G>C c.1372G>C (p.Glu458Gln) | ClinVar dbSNP |
| 13 | g.48381381G= | CA2089972493 | RB1 | c.1633G= (p.Glu545=) c.132G= c.1372G= (p.Glu458=) | |
| 13 | g.48381381G>T | CA388163841 | RB1 | c.1633G>T (p.Glu545Ter) c.132G>T c.1372G>T (p.Glu458Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48381381_48381388del | CA658798146 | RB1 | c.1633_1640del (p.Glu545LysfsTer7) c.132_139del c.1372_1379del (p.Glu458LysfsTer7) | ClinVar dbSNP |
| 13 | g.48381382A>C | CA388163843 | RB1 | c.1634A>C (p.Glu545Ala) c.133A>C c.1373A>C (p.Glu458Ala) | |
| 13 | g.48381382A>G | CA388163845 | RB1 | c.1634A>G (p.Glu545Gly) c.133A>G c.1373A>G (p.Glu458Gly) | |
| 13 | g.48381382A>T | CA388163847 | RB1 | c.1634A>T (p.Glu545Val) c.133A>T c.1373A>T (p.Glu458Val) | |
| 13 | g.48381384del | CA2728040319 | RB1 | c.1636del (p.Met546Ter) c.135del c.1375del (p.Met459Ter) | dbSNP |
| 13 | g.48381383_48381384del | CA2739277609 | RB1 | c.1635_1636del (p.Glu545AspfsTer9) c.134_135del c.1374_1375del (p.Glu458AspfsTer9) | ClinVar |
| 13 | g.48381383A>C | CA388163848 | RB1 | c.1635A>C (p.Glu545Asp) c.134A>C c.1374A>C (p.Glu458Asp) | |
| 13 | g.48381383A>G | CA483559558 | RB1 | c.1635A>G (p.Glu545=) c.134A>G c.1374A>G (p.Glu458=) | ClinVar |
| 13 | g.48381383A>T | CA388163850 | RB1 | c.1635A>T (p.Glu545Asp) c.134A>T c.1374A>T (p.Glu458Asp) | dbSNP |
| 13 | g.48381384A>C | CA388163852 | RB1 | c.1636A>C (p.Met546Leu) c.135A>C c.1375A>C (p.Met459Leu) | |
| 13 | g.48381384A>G | CA388163854 | RB1 | c.1636A>G (p.Met546Val) c.135A>G c.1375A>G (p.Met459Val) | |
| 13 | g.48381384A>T | CA388163855 | RB1 | c.1636A>T (p.Met546Leu) c.135A>T c.1375A>T (p.Met459Leu) | |
| 13 | g.48381385del | CA2695218506 | RB1 | c.1637del (p.Met546ArgfsTer2) c.136del c.1376del (p.Met459ArgfsTer2) | |
| 13 | g.48381385T>A | CA388163861 | RB1 | c.1637T>A (p.Met546Lys) c.136T>A c.1376T>A (p.Met459Lys) | dbSNP |
| 13 | g.48381385T>C | CA388163858 | RB1 | c.1637T>C (p.Met546Thr) c.136T>C c.1376T>C (p.Met459Thr) | COSMIC COSMIC |
| 13 | g.48381385T>G | CA388163860 | RB1 | c.1637T>G (p.Met546Arg) c.136T>G c.1376T>G (p.Met459Arg) | dbSNP |
| 13 | g.48381386G>A | CA388163862 | RB1 | c.1638G>A (p.Met546Ile) c.137G>A c.1377G>A (p.Met459Ile) | dbSNP |
| 13 | g.48381386G>C | CA388163864 | RB1 | c.1638G>C (p.Met546Ile) c.137G>C c.1377G>C (p.Met459Ile) | dbSNP |
| 13 | g.48381386G>T | CA388163865 | RB1 | c.1638G>T (p.Met546Ile) c.137G>T c.1377G>T (p.Met459Ile) | |
| 13 | g.48381387A>C | CA388163867 | RB1 | c.1639A>C (p.Ile547Leu) c.138A>C c.1378A>C (p.Ile460Leu) | |
| 13 | g.48381387A>G | CA388163868 | RB1 | c.1639A>G (p.Ile547Val) c.138A>G c.1378A>G (p.Ile460Val) | gnomAD v4 |
| 13 | g.48381387A>T | CA388163871 | RB1 | c.1639A>T (p.Ile547Leu) c.138A>T c.1378A>T (p.Ile460Leu) | |
| 13 | g.48381388T>A | CA388163873 | RB1 | c.1640T>A (p.Ile547Lys) c.139T>A c.1379T>A (p.Ile460Lys) | |
| 13 | g.48381388T>C | CA388163875 | RB1 | c.1640T>C (p.Ile547Thr) c.139T>C c.1379T>C (p.Ile460Thr) | |
| 13 | g.48381388T>G | CA388163877 | RB1 | c.1640T>G (p.Ile547Arg) c.139T>G c.1379T>G (p.Ile460Arg) | |
| 13 | g.48381389A>C | CA483559574 | RB1 | c.1641A>C (p.Ile547=) c.140A>C c.1380A>C (p.Ile460=) | dbSNP |
| 13 | g.48381389A>G | CA388163879 | RB1 | c.1641A>G (p.Ile547Met) c.140A>G c.1380A>G (p.Ile460Met) | dbSNP |
| 13 | g.48381389A>T | CA483559577 | RB1 | c.1641A>T (p.Ile547=) c.140A>T c.1380A>T (p.Ile460=) | dbSNP |
| 13 | g.48381392dup | CA2695218507 | RB1 | c.1644dup (p.His549ThrfsTer6) c.143dup c.1383dup (p.His462ThrfsTer6) | dbSNP |
| 13 | g.48381392del | CA645578679 | RB1 | c.1644del (p.Lys548AsnfsTer3) c.143del c.1383del (p.Lys461AsnfsTer3) | COSMIC COSMIC |
| 13 | g.48381390A>C | CA388163881 | RB1 | c.1642A>C (p.Lys548Gln) c.141A>C c.1381A>C (p.Lys461Gln) | |
| 13 | g.48381390A>G | CA388163882 | RB1 | c.1642A>G (p.Lys548Glu) c.141A>G c.1381A>G (p.Lys461Glu) | dbSNP |
| 13 | g.48381390A>T | CA388163884 | RB1 | c.1642A>T (p.Lys548Ter) c.141A>T c.1381A>T (p.Lys461Ter) | dbSNP |
| 13 | g.48381391A>C | CA388163888 | RB1 | c.1643A>C (p.Lys548Thr) c.142A>C c.1382A>C (p.Lys461Thr) | gnomAD v4 COSMIC COSMIC |
| 13 | g.48381391A>G | CA388163890 | RB1 | c.1643A>G (p.Lys548Arg) c.142A>G c.1382A>G (p.Lys461Arg) | |
| 13 | g.48381391A>T | CA388163887 | RB1 | c.1643A>T (p.Lys548Ile) c.142A>T c.1382A>T (p.Lys461Ile) | dbSNP |
| 13 | g.48381392A>C | CA388163892 | RB1 | c.1644A>C (p.Lys548Asn) c.143A>C c.1383A>C (p.Lys461Asn) | dbSNP COSMIC |
| 13 | g.48381392A>G | CA483559587 | RB1 | c.1644A>G (p.Lys548=) c.143A>G c.1383A>G (p.Lys461=) | |
| 13 | g.48381392A>T | CA388163894 | RB1 | c.1644A>T (p.Lys548Asn) c.143A>T c.1383A>T (p.Lys461Asn) | dbSNP |
| 13 | g.48381393C>A | CA388163896 | RB1 | c.1645C>A (p.His549Asn) c.144C>A c.1384C>A (p.His462Asn) | ClinVar dbSNP |
| 13 | g.48381393C= | CA2089972495 | RB1 | c.1645C= (p.His549=) c.144C= c.1384C= (p.His462=) | |
| 13 | g.48381393C>G | CA388163898 | RB1 | c.1645C>G (p.His549Asp) c.144C>G c.1384C>G (p.His462Asp) | ClinVar dbSNP |
| 13 | g.48381393C>T | CA249281991 | RB1 | c.1645C>T (p.His549Tyr) c.144C>T c.1384C>T (p.His462Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48381394A>C | CA388163901 | RB1 | c.1646A>C (p.His549Pro) c.145A>C c.1385A>C (p.His462Pro) | |
| 13 | g.48381394A>G | CA388163903 | RB1 | c.1646A>G (p.His549Arg) c.145A>G c.1385A>G (p.His462Arg) | ClinVar dbSNP |
| 13 | g.48381394A>T | CA388163904 | RB1 | c.1646A>T (p.His549Leu) c.145A>T c.1385A>T (p.His462Leu) | |
| 13 | g.48381395T>A | CA388163906 | RB1 | c.1647T>A (p.His549Gln) c.146T>A c.1386T>A (p.His462Gln) | dbSNP |
| 13 | g.48381395T>C | CA483559597 | RB1 | c.1647T>C (p.His549=) c.146T>C c.1386T>C (p.His462=) | gnomAD v4 |
| 13 | g.48381395T>G | CA388163907 | RB1 | c.1647T>G (p.His549Gln) c.146T>G c.1386T>G (p.His462Gln) | |
| 13 | g.48381397del | CA2580574595 | RB1 | c.1649del (p.Leu550Ter) c.148del c.1388del (p.Leu463Ter) | |
| 13 | g.48381396T>A | CA388163909 | RB1 | c.1648T>A (p.Leu550Ile) c.147T>A c.1387T>A (p.Leu463Ile) | dbSNP COSMIC COSMIC |
| 13 | g.48381396T>C | CA483559600 | RB1 | c.1648T>C (p.Leu550=) c.147T>C c.1387T>C (p.Leu463=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48381396T>G | CA388163911 | RB1 | c.1648T>G (p.Leu550Val) c.147T>G c.1387T>G (p.Leu463Val) | |
| 13 | g.48381396T= | CA2089972496 | RB1 | c.1648T= (p.Leu550=) c.147T= c.1387T= (p.Leu463=) | |
| 13 | g.48381397T>A | CA388163914 | RB1 | c.1649T>A (p.Leu550Ter) c.148T>A c.1388T>A (p.Leu463Ter) | dbSNP |
| 13 | g.48381397T>C | CA388163915 | RB1 | c.1649T>C (p.Leu550Ser) c.148T>C c.1388T>C (p.Leu463Ser) | |
| 13 | g.48381397T>G | CA388163917 | RB1 | c.1649T>G (p.Leu550Ter) c.148T>G c.1388T>G (p.Leu463Ter) | COSMIC |
| 13 | g.48381398del | CA483559607 | RB1 | c.1650del (p.Glu551AsnfsTer?) c.149del c.1389del (p.Glu464AsnfsTer?) | COSMIC COSMIC |
| 13 | g.48381398A= | CA2089972498 | RB1 | c.1650A= (p.Leu550=) c.149A= c.1389A= (p.Leu463=) | |
| 13 | g.48381398A>C | CA388163919 | RB1 | c.1650A>C (p.Leu550Phe) c.149A>C c.1389A>C (p.Leu463Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48381398A>G | CA483559610 | RB1 | c.1650A>G (p.Leu550=) c.149A>G c.1389A>G (p.Leu463=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48381398A>T | CA388163921 | RB1 | c.1650A>T (p.Leu550Phe) c.149A>T c.1389A>T (p.Leu463Phe) | dbSNP |
| 13 | g.48381399G>A | CA249281995 | RB1 | c.1651G>A (p.Glu551Lys) c.150G>A c.1390G>A (p.Glu464Lys) | ClinVar dbSNP |
| 13 | g.48381399G>C | CA388163924 | RB1 | c.1651G>C (p.Glu551Gln) c.150G>C c.1390G>C (p.Glu464Gln) | dbSNP |
| 13 | g.48381399G= | CA2089972501 | RB1 | c.1651G= (p.Glu551=) c.150G= c.1390G= (p.Glu464=) | |
| 13 | g.48381399G>T | CA388163926 | RB1 | c.1651G>T (p.Glu551Ter) c.150G>T c.1390G>T (p.Glu464Ter) | dbSNP |
| 13 | g.48381400A>C | CA388163928 | RB1 | c.1652A>C (p.Glu551Ala) c.151A>C c.1391A>C (p.Glu464Ala) | |
| 13 | g.48381400A>G | CA388163930 | RB1 | c.1652A>G (p.Glu551Gly) c.151A>G c.1391A>G (p.Glu464Gly) | |
| 13 | g.48381400A>T | CA388163931 | RB1 | c.1652A>T (p.Glu551Val) c.151A>T c.1391A>T (p.Glu464Val) | dbSNP |
| 13 | g.48381401A>C | CA388163933 | RB1 | c.1653A>C (p.Glu551Asp) c.152A>C c.1392A>C (p.Glu464Asp) | dbSNP |
| 13 | g.48381401A>G | CA483559621 | RB1 | c.1653A>G (p.Glu551=) c.152A>G c.1392A>G (p.Glu464=) | |
| 13 | g.48381401A>T | CA388163935 | RB1 | c.1653A>T (p.Glu551Asp) c.152A>T c.1392A>T (p.Glu464Asp) | dbSNP |
| 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) |