Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.86030302C>A | CA347545460 | POLR1A | c.4673G>T (p.Gly1558Val) c.4490G>T (p.Gly1497Val) c.4349G>T (p.Gly1450Val) | |
2 | g.86030302C>G | CA347545461 | POLR1A | c.4673G>C (p.Gly1558Ala) c.4490G>C (p.Gly1497Ala) c.4349G>C (p.Gly1450Ala) | |
2 | g.86030302C>T | CA347545462 | POLR1A | c.4673G>A (p.Gly1558Asp) c.4490G>A (p.Gly1497Asp) c.4349G>A (p.Gly1450Asp) | |
2 | g.86030303C>A | CA347545463 | POLR1A | c.4672G>T (p.Gly1558Cys) c.4489G>T (p.Gly1497Cys) c.4348G>T (p.Gly1450Cys) | |
2 | g.86030303C>G | CA347545465 | POLR1A | c.4672G>C (p.Gly1558Arg) c.4489G>C (p.Gly1497Arg) c.4348G>C (p.Gly1450Arg) | |
2 | g.86030303C>T | CA347545464 | POLR1A | c.4672G>A (p.Gly1558Ser) c.4489G>A (p.Gly1497Ser) c.4348G>A (p.Gly1450Ser) | gnomAD v4 |
2 | g.86030304C>A | CA347545466 | POLR1A | c.4671G>T (p.Lys1557Asn) c.4488G>T (p.Lys1496Asn) c.4347G>T (p.Lys1449Asn) | COSMIC |
2 | g.86030304C>G | CA347545467 | POLR1A | c.4671G>C (p.Lys1557Asn) c.4488G>C (p.Lys1496Asn) c.4347G>C (p.Lys1449Asn) | |
2 | g.86030304C>T | CA427147118 | POLR1A | c.4671G>A (p.Lys1557=) c.4488G>A (p.Lys1496=) c.4347G>A (p.Lys1449=) | |
2 | g.86030305T>A | CA347545468 | POLR1A | c.4670A>T (p.Lys1557Met) c.4487A>T (p.Lys1496Met) c.4346A>T (p.Lys1449Met) | |
2 | g.86030305T>C | CA347545469 | POLR1A | c.4670A>G (p.Lys1557Arg) c.4487A>G (p.Lys1496Arg) c.4346A>G (p.Lys1449Arg) | |
2 | g.86030305T>G | CA347545470 | POLR1A | c.4670A>C (p.Lys1557Thr) c.4487A>C (p.Lys1496Thr) c.4346A>C (p.Lys1449Thr) | |
2 | g.86030306T>A | CA347545471 | POLR1A | c.4669A>T (p.Lys1557Ter) c.4486A>T (p.Lys1496Ter) c.4345A>T (p.Lys1449Ter) | |
2 | g.86030306T>C | CA347545472 | POLR1A | c.4669A>G (p.Lys1557Glu) c.4486A>G (p.Lys1496Glu) c.4345A>G (p.Lys1449Glu) | |
2 | g.86030306T>G | CA347545473 | POLR1A | c.4669A>C (p.Lys1557Gln) c.4486A>C (p.Lys1496Gln) c.4345A>C (p.Lys1449Gln) | |
2 | g.86030307G>A | CA427147121 | POLR1A | c.4668C>T (p.Thr1556=) c.4485C>T (p.Thr1495=) c.4344C>T (p.Thr1448=) | |
2 | g.86030307G>C | CA427147122 | POLR1A | c.4668C>G (p.Thr1556=) c.4485C>G (p.Thr1495=) c.4344C>G (p.Thr1448=) | |
2 | g.86030307G>T | CA427147123 | POLR1A | c.4668C>A (p.Thr1556=) c.4485C>A (p.Thr1495=) c.4344C>A (p.Thr1448=) | |
2 | g.86030308G>A | CA347545474 | POLR1A | c.4667C>T (p.Thr1556Ile) c.4484C>T (p.Thr1495Ile) c.4343C>T (p.Thr1448Ile) | |
2 | g.86030308G>C | CA347545475 | POLR1A | c.4667C>G (p.Thr1556Ser) c.4484C>G (p.Thr1495Ser) c.4343C>G (p.Thr1448Ser) | |
2 | g.86030308G>T | CA347545476 | POLR1A | c.4667C>A (p.Thr1556Asn) c.4484C>A (p.Thr1495Asn) c.4343C>A (p.Thr1448Asn) | |
2 | g.86030309T>A | CA347545478 | POLR1A | c.4666A>T (p.Thr1556Ser) c.4483A>T (p.Thr1495Ser) c.4342A>T (p.Thr1448Ser) | |
2 | g.86030309T>C | CA347545479 | POLR1A | c.4666A>G (p.Thr1556Ala) c.4483A>G (p.Thr1495Ala) c.4342A>G (p.Thr1448Ala) | |
2 | g.86030309T>G | CA347545477 | POLR1A | c.4666A>C (p.Thr1556Pro) c.4483A>C (p.Thr1495Pro) c.4342A>C (p.Thr1448Pro) | |
2 | g.86030310C>A | CA427147125 | POLR1A | c.4665G>T (p.Ala1555=) c.4482G>T (p.Ala1494=) c.4341G>T (p.Ala1447=) | gnomAD v4 |
2 | g.86030310C= | CA1267041323 | POLR1A | c.4665G= (p.Ala1555=) c.4482G= (p.Ala1494=) c.4341G= (p.Ala1447=) | |
2 | g.86030310C>G | CA427147126 | POLR1A | c.4665G>C (p.Ala1555=) c.4482G>C (p.Ala1494=) c.4341G>C (p.Ala1447=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.86030310C>T | CA1745431 | POLR1A | c.4665G>A (p.Ala1555=) c.4482G>A (p.Ala1494=) c.4341G>A (p.Ala1447=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030311G>A | CA1745432 | POLR1A | c.4664C>T (p.Ala1555Val) c.4481C>T (p.Ala1494Val) c.4340C>T (p.Ala1447Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.86030311G>C | CA347545480 | POLR1A | c.4664C>G (p.Ala1555Gly) c.4481C>G (p.Ala1494Gly) c.4340C>G (p.Ala1447Gly) | |
2 | g.86030311G= | CA1267041324 | POLR1A | c.4664C= (p.Ala1555=) c.4481C= (p.Ala1494=) c.4340C= (p.Ala1447=) | |
2 | g.86030311G>T | CA347545481 | POLR1A | c.4664C>A (p.Ala1555Glu) c.4481C>A (p.Ala1494Glu) c.4340C>A (p.Ala1447Glu) | |
2 | g.86030312C>A | CA347545482 | POLR1A | c.4663G>T (p.Ala1555Ser) c.4480G>T (p.Ala1494Ser) c.4339G>T (p.Ala1447Ser) | |
2 | g.86030312C= | CA1267041325 | POLR1A | c.4663G= (p.Ala1555=) c.4480G= (p.Ala1494=) c.4339G= (p.Ala1447=) | |
2 | g.86030312C>G | CA347545483 | POLR1A | c.4663G>C (p.Ala1555Pro) c.4480G>C (p.Ala1494Pro) c.4339G>C (p.Ala1447Pro) | |
2 | g.86030312C>T | CA347545484 | POLR1A | c.4663G>A (p.Ala1555Thr) c.4480G>A (p.Ala1494Thr) c.4339G>A (p.Ala1447Thr) | dbSNP |
2 | g.86030313A>C | CA347545485 | POLR1A | c.4662T>G (p.Tyr1554Ter) c.4479T>G (p.Tyr1493Ter) c.4338T>G (p.Tyr1446Ter) | |
2 | g.86030313A>G | CA427147128 | POLR1A | c.4662T>C (p.Tyr1554=) c.4479T>C (p.Tyr1493=) c.4338T>C (p.Tyr1446=) | dbSNP gnomAD v4 |
2 | g.86030313A>T | CA347545486 | POLR1A | c.4662T>A (p.Tyr1554Ter) c.4479T>A (p.Tyr1493Ter) c.4338T>A (p.Tyr1446Ter) | |
2 | g.86030314T>A | CA347545487 | POLR1A | c.4661A>T (p.Tyr1554Phe) c.4478A>T (p.Tyr1493Phe) c.4337A>T (p.Tyr1446Phe) | |
2 | g.86030314T>C | CA1745433 | POLR1A | c.4661A>G (p.Tyr1554Cys) c.4478A>G (p.Tyr1493Cys) c.4337A>G (p.Tyr1446Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030314T>G | CA347545488 | POLR1A | c.4661A>C (p.Tyr1554Ser) c.4478A>C (p.Tyr1493Ser) c.4337A>C (p.Tyr1446Ser) | |
2 | g.86030314T= | CA1267041326 | POLR1A | c.4661A= (p.Tyr1554=) c.4478A= (p.Tyr1493=) c.4337A= (p.Tyr1446=) | |
2 | g.86030315A>C | CA347545490 | POLR1A | c.4660T>G (p.Tyr1554Asp) c.4477T>G (p.Tyr1493Asp) c.4336T>G (p.Tyr1446Asp) | |
2 | g.86030315A>G | CA347545491 | POLR1A | c.4660T>C (p.Tyr1554His) c.4477T>C (p.Tyr1493His) c.4336T>C (p.Tyr1446His) | |
2 | g.86030315A>T | CA347545489 | POLR1A | c.4660T>A (p.Tyr1554Asn) c.4477T>A (p.Tyr1493Asn) c.4336T>A (p.Tyr1446Asn) | |
2 | g.86030316G>A | CA427147133 | POLR1A | c.4659C>T (p.Ile1553=) c.4476C>T (p.Ile1492=) c.4335C>T (p.Ile1445=) | gnomAD v4 |
2 | g.86030316G>C | CA347545492 | POLR1A | c.4659C>G (p.Ile1553Met) c.4476C>G (p.Ile1492Met) c.4335C>G (p.Ile1445Met) | dbSNP |
2 | g.86030316G= | CA1267041327 | POLR1A | c.4659C= (p.Ile1553=) c.4476C= (p.Ile1492=) c.4335C= (p.Ile1445=) | |
2 | g.86030316G>T | CA427147132 | POLR1A | c.4659C>A (p.Ile1553=) c.4476C>A (p.Ile1492=) c.4335C>A (p.Ile1445=) | |
2 | g.86030317A>C | CA347545493 | POLR1A | c.4658T>G (p.Ile1553Ser) c.4475T>G (p.Ile1492Ser) c.4334T>G (p.Ile1445Ser) | |
2 | g.86030317A>G | CA347545494 | POLR1A | c.4658T>C (p.Ile1553Thr) c.4475T>C (p.Ile1492Thr) c.4334T>C (p.Ile1445Thr) | gnomAD v4 |
2 | g.86030317A>T | CA347545495 | POLR1A | c.4658T>A (p.Ile1553Asn) c.4475T>A (p.Ile1492Asn) c.4334T>A (p.Ile1445Asn) | |
2 | g.86030318T>A | CA347545496 | POLR1A | c.4657A>T (p.Ile1553Phe) c.4474A>T (p.Ile1492Phe) c.4333A>T (p.Ile1445Phe) | gnomAD v4 |
2 | g.86030318T>C | CA1745434 | POLR1A | c.4657A>G (p.Ile1553Val) c.4474A>G (p.Ile1492Val) c.4333A>G (p.Ile1445Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030318T>G | CA347545497 | POLR1A | c.4657A>C (p.Ile1553Leu) c.4474A>C (p.Ile1492Leu) c.4333A>C (p.Ile1445Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.86030318T= | CA1267041328 | POLR1A | c.4657A= (p.Ile1553=) c.4474A= (p.Ile1492=) c.4333A= (p.Ile1445=) | |
2 | g.86030319G>A | CA427147135 | POLR1A | c.4656C>T (p.Val1552=) c.4473C>T (p.Val1491=) c.4332C>T (p.Val1444=) | |
2 | g.86030319G>C | CA427147137 | POLR1A | c.4656C>G (p.Val1552=) c.4473C>G (p.Val1491=) c.4332C>G (p.Val1444=) | |
2 | g.86030319G>T | CA427147134 | POLR1A | c.4656C>A (p.Val1552=) c.4473C>A (p.Val1491=) c.4332C>A (p.Val1444=) | |
2 | g.86030320A>C | CA347545498 | POLR1A | c.4655T>G (p.Val1552Gly) c.4472T>G (p.Val1491Gly) c.4331T>G (p.Val1444Gly) | |
2 | g.86030320A>G | CA347545500 | POLR1A | c.4655T>C (p.Val1552Ala) c.4472T>C (p.Val1491Ala) c.4331T>C (p.Val1444Ala) | |
2 | g.86030320A>T | CA347545499 | POLR1A | c.4655T>A (p.Val1552Asp) c.4472T>A (p.Val1491Asp) c.4331T>A (p.Val1444Asp) | |
2 | g.86030321C>A | CA347545501 | POLR1A | c.4654G>T (p.Val1552Phe) c.4471G>T (p.Val1491Phe) c.4330G>T (p.Val1444Phe) | |
2 | g.86030321C= | CA1267041329 | POLR1A | c.4654G= (p.Val1552=) c.4471G= (p.Val1491=) c.4330G= (p.Val1444=) | |
2 | g.86030321C>G | CA1745435 | POLR1A | c.4654G>C (p.Val1552Leu) c.4471G>C (p.Val1491Leu) c.4330G>C (p.Val1444Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030321C>T | CA1745436 | POLR1A | c.4654G>A (p.Val1552Ile) c.4471G>A (p.Val1491Ile) c.4330G>A (p.Val1444Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030322G>A | CA1745437 | POLR1A | c.4653C>T (p.Ala1551=) c.4470C>T (p.Ala1490=) c.4329C>T (p.Ala1443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030322G>C | CA427147139 | POLR1A | c.4653C>G (p.Ala1551=) c.4470C>G (p.Ala1490=) c.4329C>G (p.Ala1443=) | |
2 | g.86030322G= | CA1267041330 | POLR1A | c.4653C= (p.Ala1551=) c.4470C= (p.Ala1490=) c.4329C= (p.Ala1443=) | |
2 | g.86030322G>T | CA427147141 | POLR1A | c.4653C>A (p.Ala1551=) c.4470C>A (p.Ala1490=) c.4329C>A (p.Ala1443=) | |
2 | g.86030323G>A | CA1745438 | POLR1A | c.4652C>T (p.Ala1551Val) c.4469C>T (p.Ala1490Val) c.4328C>T (p.Ala1443Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030323G>C | CA347545503 | POLR1A | c.4652C>G (p.Ala1551Gly) c.4469C>G (p.Ala1490Gly) c.4328C>G (p.Ala1443Gly) | |
2 | g.86030323G= | CA1267041331 | POLR1A | c.4652C= (p.Ala1551=) c.4469C= (p.Ala1490=) c.4328C= (p.Ala1443=) | |
2 | g.86030323G>T | CA347545502 | POLR1A | c.4652C>A (p.Ala1551Asp) c.4469C>A (p.Ala1490Asp) c.4328C>A (p.Ala1443Asp) | |
2 | g.86030324C>A | CA347545504 | POLR1A | c.4651G>T (p.Ala1551Ser) c.4468G>T (p.Ala1490Ser) c.4327G>T (p.Ala1443Ser) | |
2 | g.86030324C= | CA1267041332 | POLR1A | c.4651G= (p.Ala1551=) c.4468G= (p.Ala1490=) c.4327G= (p.Ala1443=) | |
2 | g.86030324C>G | CA347545506 | POLR1A | c.4651G>C (p.Ala1551Pro) c.4468G>C (p.Ala1490Pro) c.4327G>C (p.Ala1443Pro) | |
2 | g.86030324C>T | CA347545505 | POLR1A | c.4651G>A (p.Ala1551Thr) c.4468G>A (p.Ala1490Thr) c.4327G>A (p.Ala1443Thr) | dbSNP |
2 | g.86030325A>C | CA427147144 | POLR1A | c.4650T>G (p.Gly1550=) c.4467T>G (p.Gly1489=) c.4326T>G (p.Gly1442=) | |
2 | g.86030325A>G | CA427147146 | POLR1A | c.4650T>C (p.Gly1550=) c.4467T>C (p.Gly1489=) c.4326T>C (p.Gly1442=) | gnomAD v4 |
2 | g.86030325A>T | CA427147142 | POLR1A | c.4650T>A (p.Gly1550=) c.4467T>A (p.Gly1489=) c.4326T>A (p.Gly1442=) | |
2 | g.86030326C>A | CA347545507 | POLR1A | c.4649G>T (p.Gly1550Val) c.4466G>T (p.Gly1489Val) c.4325G>T (p.Gly1442Val) | gnomAD v4 |
2 | g.86030326C>G | CA347545509 | POLR1A | c.4649G>C (p.Gly1550Ala) c.4466G>C (p.Gly1489Ala) c.4325G>C (p.Gly1442Ala) | |
2 | g.86030326C>T | CA347545508 | POLR1A | c.4649G>A (p.Gly1550Asp) c.4466G>A (p.Gly1489Asp) c.4325G>A (p.Gly1442Asp) | |
2 | g.86030327C>A | CA347545510 | POLR1A | c.4648G>T (p.Gly1550Cys) c.4465G>T (p.Gly1489Cys) c.4324G>T (p.Gly1442Cys) | |
2 | g.86030327C= | CA1267041333 | POLR1A | c.4648G= (p.Gly1550=) c.4465G= (p.Gly1489=) c.4324G= (p.Gly1442=) | |
2 | g.86030327C>G | CA347545511 | POLR1A | c.4648G>C (p.Gly1550Arg) c.4465G>C (p.Gly1489Arg) c.4324G>C (p.Gly1442Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030327C>T | CA347545512 | POLR1A | c.4648G>A (p.Gly1550Ser) c.4465G>A (p.Gly1489Ser) c.4324G>A (p.Gly1442Ser) | |
2 | g.86030328A>C | CA347545513 | POLR1A | c.4647T>G (p.His1549Gln) c.4464T>G (p.His1488Gln) c.4323T>G (p.His1441Gln) | |
2 | g.86030328A>G | CA427147148 | POLR1A | c.4647T>C (p.His1549=) c.4464T>C (p.His1488=) c.4323T>C (p.His1441=) | |
2 | g.86030328A>T | CA347545514 | POLR1A | c.4647T>A (p.His1549Gln) c.4464T>A (p.His1488Gln) c.4323T>A (p.His1441Gln) | |
2 | g.86030329T>A | CA347545516 | POLR1A | c.4646A>T (p.His1549Leu) c.4463A>T (p.His1488Leu) c.4322A>T (p.His1441Leu) | |
2 | g.86030329T>C | CA347545515 | POLR1A | c.4646A>G (p.His1549Arg) c.4463A>G (p.His1488Arg) c.4322A>G (p.His1441Arg) | |
2 | g.86030329T>G | CA1745439 | POLR1A | c.4646A>C (p.His1549Pro) c.4463A>C (p.His1488Pro) c.4322A>C (p.His1441Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030329T= | CA1267041334 | POLR1A | c.4646A= (p.His1549=) c.4463A= (p.His1488=) c.4322A= (p.His1441=) | |
2 | g.86030330G>A | CA347545517 | POLR1A | c.4645C>T (p.His1549Tyr) c.4462C>T (p.His1488Tyr) c.4321C>T (p.His1441Tyr) | ClinVar gnomAD v4 |
2 | g.86030330G>C | CA347545518 | POLR1A | c.4645C>G (p.His1549Asp) c.4462C>G (p.His1488Asp) c.4321C>G (p.His1441Asp) | |
2 | g.86030330G>T | CA347545519 | POLR1A | c.4645C>A (p.His1549Asn) c.4462C>A (p.His1488Asn) c.4321C>A (p.His1441Asn) | |
2 | g.86030331G>A | CA427147152 | POLR1A | c.4644C>T (p.Ala1548=) c.4461C>T (p.Ala1487=) c.4320C>T (p.Ala1440=) | |
2 | g.86030331G>C | CA427147154 | POLR1A | c.4644C>G (p.Ala1548=) c.4461C>G (p.Ala1487=) c.4320C>G (p.Ala1440=) | |
2 | g.86030331G>T | CA427147153 | POLR1A | c.4644C>A (p.Ala1548=) c.4461C>A (p.Ala1487=) c.4320C>A (p.Ala1440=) | |
2 | g.86030332G>A | CA347545520 | POLR1A | c.4643C>T (p.Ala1548Val) c.4460C>T (p.Ala1487Val) c.4319C>T (p.Ala1440Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.86030332G>C | CA347545521 | POLR1A | c.4643C>G (p.Ala1548Gly) c.4460C>G (p.Ala1487Gly) c.4319C>G (p.Ala1440Gly) | |
2 | g.86030332G= | CA1267041335 | POLR1A | c.4643C= (p.Ala1548=) c.4460C= (p.Ala1487=) c.4319C= (p.Ala1440=) | |
2 | g.86030332G>T | CA347545522 | POLR1A | c.4643C>A (p.Ala1548Asp) c.4460C>A (p.Ala1487Asp) c.4319C>A (p.Ala1440Asp) | |
2 | g.86030333C>A | CA347545523 | POLR1A | c.4642G>T (p.Ala1548Ser) c.4459G>T (p.Ala1487Ser) c.4318G>T (p.Ala1440Ser) | |
2 | g.86030333C>G | CA347545525 | POLR1A | c.4642G>C (p.Ala1548Pro) c.4459G>C (p.Ala1487Pro) c.4318G>C (p.Ala1440Pro) | gnomAD v4 |
2 | g.86030333C>T | CA347545524 | POLR1A | c.4642G>A (p.Ala1548Thr) c.4459G>A (p.Ala1487Thr) c.4318G>A (p.Ala1440Thr) | COSMIC |
2 | g.86030334C>A | CA347545526 | POLR1A | c.4641G>T (p.Leu1547Phe) c.4458G>T (p.Leu1486Phe) c.4317G>T (p.Leu1439Phe) | |
2 | g.86030334C>G | CA347545527 | POLR1A | c.4641G>C (p.Leu1547Phe) c.4458G>C (p.Leu1486Phe) c.4317G>C (p.Leu1439Phe) | |
2 | g.86030334C>T | CA427147157 | POLR1A | c.4641G>A (p.Leu1547=) c.4458G>A (p.Leu1486=) c.4317G>A (p.Leu1439=) | |
2 | g.86030335A= | CA1267041336 | POLR1A | c.4640T= (p.Leu1547=) c.4457T= (p.Leu1486=) c.4316T= (p.Leu1439=) | |
2 | g.86030335A>C | CA347545528 | POLR1A | c.4640T>G (p.Leu1547Trp) c.4457T>G (p.Leu1486Trp) c.4316T>G (p.Leu1439Trp) | |
2 | g.86030335A>G | CA347545529 | POLR1A | c.4640T>C (p.Leu1547Ser) c.4457T>C (p.Leu1486Ser) c.4316T>C (p.Leu1439Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.86030335A>T | CA347545530 | POLR1A | c.4640T>A (p.Leu1547Ter) c.4457T>A (p.Leu1486Ter) c.4316T>A (p.Leu1439Ter) | |
2 | g.86030336_86030337del | CA2659905222 | POLR1A | c.4639_4640del (p.Leu1547GlyfsTer19) c.4456_4457del (p.Leu1486GlyfsTer19) c.4315_4316del (p.Leu1439GlyfsTer19) | gnomAD v4 |
2 | g.86030336A>C | CA347545531 | POLR1A | c.4639T>G (p.Leu1547Val) c.4456T>G (p.Leu1486Val) c.4315T>G (p.Leu1439Val) | |
2 | g.86030336A>G | CA427147161 | POLR1A | c.4639T>C (p.Leu1547=) c.4456T>C (p.Leu1486=) c.4315T>C (p.Leu1439=) | |
2 | g.86030336A>T | CA347545532 | POLR1A | c.4639T>A (p.Leu1547Met) c.4456T>A (p.Leu1486Met) c.4315T>A (p.Leu1439Met) | |
2 | g.86030337A>C | CA427147164 | POLR1A | c.4638T>G (p.Ser1546=) c.4455T>G (p.Ser1485=) c.4314T>G (p.Ser1438=) | |
2 | g.86030337A>G | CA427147162 | POLR1A | c.4638T>C (p.Ser1546=) c.4455T>C (p.Ser1485=) c.4314T>C (p.Ser1438=) | |
2 | g.86030337A>T | CA427147163 | POLR1A | c.4638T>A (p.Ser1546=) c.4455T>A (p.Ser1485=) c.4314T>A (p.Ser1438=) | |
2 | g.86030338G>A | CA347545533 | POLR1A | c.4637C>T (p.Ser1546Phe) c.4454C>T (p.Ser1485Phe) c.4313C>T (p.Ser1438Phe) | ClinVar |
2 | g.86030338G>C | CA347545534 | POLR1A | c.4637C>G (p.Ser1546Cys) c.4454C>G (p.Ser1485Cys) c.4313C>G (p.Ser1438Cys) | |
2 | g.86030338G= | CA1267041337 | POLR1A | c.4637C= (p.Ser1546=) c.4454C= (p.Ser1485=) c.4313C= (p.Ser1438=) | |
2 | g.86030338G>T | CA347545535 | POLR1A | c.4637C>A (p.Ser1546Tyr) c.4454C>A (p.Ser1485Tyr) c.4313C>A (p.Ser1438Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030339A>C | CA347545536 | POLR1A | c.4636T>G (p.Ser1546Ala) c.4453T>G (p.Ser1485Ala) c.4312T>G (p.Ser1438Ala) | |
2 | g.86030339A>G | CA347545538 | POLR1A | c.4636T>C (p.Ser1546Pro) c.4453T>C (p.Ser1485Pro) c.4312T>C (p.Ser1438Pro) | |
2 | g.86030339A>T | CA347545537 | POLR1A | c.4636T>A (p.Ser1546Thr) c.4453T>A (p.Ser1485Thr) c.4312T>A (p.Ser1438Thr) | |
2 | g.86030340T>A | CA427147169 | POLR1A | c.4635A>T (p.Val1545=) c.4452A>T (p.Val1484=) c.4311A>T (p.Val1437=) | |
2 | g.86030340T>C | CA427147170 | POLR1A | c.4635A>G (p.Val1545=) c.4452A>G (p.Val1484=) c.4311A>G (p.Val1437=) | |
2 | g.86030340T>G | CA427147168 | POLR1A | c.4635A>C (p.Val1545=) c.4452A>C (p.Val1484=) c.4311A>C (p.Val1437=) | |
2 | g.86030341A>C | CA347545539 | POLR1A | c.4634T>G (p.Val1545Gly) c.4451T>G (p.Val1484Gly) c.4310T>G (p.Val1437Gly) | COSMIC |
2 | g.86030341A>G | CA347545540 | POLR1A | c.4634T>C (p.Val1545Ala) c.4451T>C (p.Val1484Ala) c.4310T>C (p.Val1437Ala) | |
2 | g.86030341A>T | CA347545541 | POLR1A | c.4634T>A (p.Val1545Glu) c.4451T>A (p.Val1484Glu) c.4310T>A (p.Val1437Glu) | |
2 | g.86030342C>A | CA1745440 | POLR1A | c.4633G>T (p.Val1545Leu) c.4450G>T (p.Val1484Leu) c.4309G>T (p.Val1437Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030342C= | CA1267041338 | POLR1A | c.4633G= (p.Val1545=) c.4450G= (p.Val1484=) c.4309G= (p.Val1437=) | |
2 | g.86030342C>G | CA347545542 | POLR1A | c.4633G>C (p.Val1545Leu) c.4450G>C (p.Val1484Leu) c.4309G>C (p.Val1437Leu) | |
2 | g.86030342C>T | CA347545543 | POLR1A | c.4633G>A (p.Val1545Ile) c.4450G>A (p.Val1484Ile) c.4309G>A (p.Val1437Ile) | COSMIC |
2 | g.86030343T>A | CA427147172 | POLR1A | c.4632A>T (p.Val1544=) c.4449A>T (p.Val1483=) c.4308A>T (p.Val1436=) | |
2 | g.86030343T>C | CA51365813 | POLR1A | c.4632A>G (p.Val1544=) c.4449A>G (p.Val1483=) c.4308A>G (p.Val1436=) | dbSNP gnomAD v4 |
2 | g.86030343T>G | CA427147173 | POLR1A | c.4632A>C (p.Val1544=) c.4449A>C (p.Val1483=) c.4308A>C (p.Val1436=) | |
2 | g.86030343T= | CA1267041339 | POLR1A | c.4632A= (p.Val1544=) c.4449A= (p.Val1483=) c.4308A= (p.Val1436=) | |
2 | g.86030344A>C | CA347545544 | POLR1A | c.4631T>G (p.Val1544Gly) c.4448T>G (p.Val1483Gly) c.4307T>G (p.Val1436Gly) | |
2 | g.86030344A>G | CA347545545 | POLR1A | c.4631T>C (p.Val1544Ala) c.4448T>C (p.Val1483Ala) c.4307T>C (p.Val1436Ala) | |
2 | g.86030344A>T | CA347545546 | POLR1A | c.4631T>A (p.Val1544Glu) c.4448T>A (p.Val1483Glu) c.4307T>A (p.Val1436Glu) | |
2 | g.86030345C>A | CA347545549 | POLR1A | c.4630G>T (p.Val1544Leu) c.4447G>T (p.Val1483Leu) c.4306G>T (p.Val1436Leu) | |
2 | g.86030345C>G | CA347545548 | POLR1A | c.4630G>C (p.Val1544Leu) c.4447G>C (p.Val1483Leu) c.4306G>C (p.Val1436Leu) | |
2 | g.86030345C>T | CA347545547 | POLR1A | c.4630G>A (p.Val1544Ile) c.4447G>A (p.Val1483Ile) c.4306G>A (p.Val1436Ile) | |
2 | g.86030346C>A | CA427147177 | POLR1A | c.4629G>T (p.Leu1543=) c.4446G>T (p.Leu1482=) c.4305G>T (p.Leu1435=) | |
2 | g.86030346C= | CA1267041340 | POLR1A | c.4629G= (p.Leu1543=) c.4446G= (p.Leu1482=) c.4305G= (p.Leu1435=) | |
2 | g.86030346C>G | CA427147178 | POLR1A | c.4629G>C (p.Leu1543=) c.4446G>C (p.Leu1482=) c.4305G>C (p.Leu1435=) | |
2 | g.86030346C>T | CA427147179 | POLR1A | c.4629G>A (p.Leu1543=) c.4446G>A (p.Leu1482=) c.4305G>A (p.Leu1435=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.86030347A>C | CA347545550 | POLR1A | c.4628T>G (p.Leu1543Arg) c.4445T>G (p.Leu1482Arg) c.4304T>G (p.Leu1435Arg) | |
2 | g.86030347A>G | CA347545551 | POLR1A | c.4628T>C (p.Leu1543Pro) c.4445T>C (p.Leu1482Pro) c.4304T>C (p.Leu1435Pro) | |
2 | g.86030347A>T | CA347545552 | POLR1A | c.4628T>A (p.Leu1543Gln) c.4445T>A (p.Leu1482Gln) c.4304T>A (p.Leu1435Gln) | |
2 | g.86030348G>A | CA427147182 | POLR1A | c.4627C>T (p.Leu1543=) c.4444C>T (p.Leu1482=) c.4303C>T (p.Leu1435=) | |
2 | g.86030348G>C | CA347545553 | POLR1A | c.4627C>G (p.Leu1543Val) c.4444C>G (p.Leu1482Val) c.4303C>G (p.Leu1435Val) | |
2 | g.86030348G>T | CA347545554 | POLR1A | c.4627C>A (p.Leu1543Met) c.4444C>A (p.Leu1482Met) c.4303C>A (p.Leu1435Met) | |
2 | g.86030349G>A | CA1745441 | POLR1A | c.4626C>T (p.Ser1542=) c.4443C>T (p.Ser1481=) c.4302C>T (p.Ser1434=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030349G>C | CA427147183 | POLR1A | c.4626C>G (p.Ser1542=) c.4443C>G (p.Ser1481=) c.4302C>G (p.Ser1434=) | |
2 | g.86030349G= | CA1267041341 | POLR1A | c.4626C= (p.Ser1542=) c.4443C= (p.Ser1481=) c.4302C= (p.Ser1434=) | |
2 | g.86030349G>T | CA427147185 | POLR1A | c.4626C>A (p.Ser1542=) c.4443C>A (p.Ser1481=) c.4302C>A (p.Ser1434=) | dbSNP gnomAD v4 |
2 | g.86030350G>A | CA347545555 | POLR1A | c.4625C>T (p.Ser1542Phe) c.4442C>T (p.Ser1481Phe) c.4301C>T (p.Ser1434Phe) | |
2 | g.86030350G>C | CA347545556 | POLR1A | c.4625C>G (p.Ser1542Cys) c.4442C>G (p.Ser1481Cys) c.4301C>G (p.Ser1434Cys) | |
2 | g.86030350G>T | CA347545557 | POLR1A | c.4625C>A (p.Ser1542Tyr) c.4442C>A (p.Ser1481Tyr) c.4301C>A (p.Ser1434Tyr) | |
2 | g.86030351A= | CA1267041342 | POLR1A | c.4624T= (p.Ser1542=) c.4441T= (p.Ser1481=) c.4300T= (p.Ser1434=) | |
2 | g.86030351A>C | CA347545558 | POLR1A | c.4624T>G (p.Ser1542Ala) c.4441T>G (p.Ser1481Ala) c.4300T>G (p.Ser1434Ala) | |
2 | g.86030351A>G | CA347545559 | POLR1A | c.4624T>C (p.Ser1542Pro) c.4441T>C (p.Ser1481Pro) c.4300T>C (p.Ser1434Pro) | |
2 | g.86030351A>T | CA1745442 | POLR1A | c.4624T>A (p.Ser1542Thr) c.4441T>A (p.Ser1481Thr) c.4300T>A (p.Ser1434Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030352G>A | CA1745443 | POLR1A | c.4623C>T (p.Ser1541=) c.4440C>T (p.Ser1480=) c.4299C>T (p.Ser1433=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030352G>C | CA347545561 | POLR1A | c.4623C>G (p.Ser1541Arg) c.4440C>G (p.Ser1480Arg) c.4299C>G (p.Ser1433Arg) | |
2 | g.86030352G= | CA1267041343 | POLR1A | c.4623C= (p.Ser1541=) c.4440C= (p.Ser1480=) c.4299C= (p.Ser1433=) | |
2 | g.86030352G>T | CA347545560 | POLR1A | c.4623C>A (p.Ser1541Arg) c.4440C>A (p.Ser1480Arg) c.4299C>A (p.Ser1433Arg) | |
2 | g.86030353C>A | CA347545563 | POLR1A | c.4622G>T (p.Ser1541Ile) c.4439G>T (p.Ser1480Ile) c.4298G>T (p.Ser1433Ile) | |
2 | g.86030353C= | CA1267041344 | POLR1A | c.4622G= (p.Ser1541=) c.4439G= (p.Ser1480=) c.4298G= (p.Ser1433=) | |
2 | g.86030353C>G | CA347545562 | POLR1A | c.4622G>C (p.Ser1541Thr) c.4439G>C (p.Ser1480Thr) c.4298G>C (p.Ser1433Thr) | gnomAD v4 |
2 | g.86030353C>T | CA51365841 | POLR1A | c.4622G>A (p.Ser1541Asn) c.4439G>A (p.Ser1480Asn) c.4298G>A (p.Ser1433Asn) | dbSNP |
2 | g.86030354T>A | CA347545564 | POLR1A | c.4621A>T (p.Ser1541Cys) c.4438A>T (p.Ser1480Cys) c.4297A>T (p.Ser1433Cys) | |
2 | g.86030354T>C | CA347545565 | POLR1A | c.4621A>G (p.Ser1541Gly) c.4438A>G (p.Ser1480Gly) c.4297A>G (p.Ser1433Gly) | |
2 | g.86030354T>G | CA347545566 | POLR1A | c.4621A>C (p.Ser1541Arg) c.4438A>C (p.Ser1480Arg) c.4297A>C (p.Ser1433Arg) | |
2 | g.86030355C>A | CA347545567 | POLR1A | c.4620G>T (p.Met1540Ile) c.4437G>T (p.Met1479Ile) c.4296G>T (p.Met1432Ile) | |
2 | g.86030355C>G | CA347545568 | POLR1A | c.4620G>C (p.Met1540Ile) c.4437G>C (p.Met1479Ile) c.4296G>C (p.Met1432Ile) | |
2 | g.86030355C>T | CA347545569 | POLR1A | c.4620G>A (p.Met1540Ile) c.4437G>A (p.Met1479Ile) c.4296G>A (p.Met1432Ile) | |
2 | g.86030356A= | CA1267041345 | POLR1A | c.4619T= (p.Met1540=) c.4436T= (p.Met1479=) c.4295T= (p.Met1432=) | |
2 | g.86030356A>C | CA347545570 | POLR1A | c.4619T>G (p.Met1540Arg) c.4436T>G (p.Met1479Arg) c.4295T>G (p.Met1432Arg) | |
2 | g.86030356A>G | CA347545571 | POLR1A | c.4619T>C (p.Met1540Thr) c.4436T>C (p.Met1479Thr) c.4295T>C (p.Met1432Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.86030356A>T | CA347545572 | POLR1A | c.4619T>A (p.Met1540Lys) c.4436T>A (p.Met1479Lys) c.4295T>A (p.Met1432Lys) | |
2 | g.86030357T>A | CA347545574 | POLR1A | c.4618A>T (p.Met1540Leu) c.4435A>T (p.Met1479Leu) c.4294A>T (p.Met1432Leu) | |
2 | g.86030357T>C | CA347545576 | POLR1A | c.4618A>G (p.Met1540Val) c.4435A>G (p.Met1479Val) c.4294A>G (p.Met1432Val) | ClinVar dbSNP |
2 | g.86030357T>G | CA347545578 | POLR1A | c.4618A>C (p.Met1540Leu) c.4435A>C (p.Met1479Leu) c.4294A>C (p.Met1432Leu) | gnomAD v4 |
2 | g.86030357T= | CA1267041346 | POLR1A | c.4618A= (p.Met1540=) c.4435A= (p.Met1479=) c.4294A= (p.Met1432=) | |
2 | g.86030358G>A | CA427147192 | POLR1A | c.4617C>T (p.Asp1539=) c.4434C>T (p.Asp1478=) c.4293C>T (p.Asp1431=) | |
2 | g.86030358G>C | CA347545579 | POLR1A | c.4617C>G (p.Asp1539Glu) c.4434C>G (p.Asp1478Glu) c.4293C>G (p.Asp1431Glu) | |
2 | g.86030358G>T | CA347545581 | POLR1A | c.4617C>A (p.Asp1539Glu) c.4434C>A (p.Asp1478Glu) c.4293C>A (p.Asp1431Glu) | |
2 | g.86030358_86030359insAAAAGGTTT | CA2750775269 | POLR1A | c.4616_4617insAAACCTTTT (p.Asp1539delinsGluAsnLeuPhe) c.4433_4434insAAACCTTTT (p.Asp1478delinsGluAsnLeuPhe) c.4292_4293insAAACCTTTT (p.Asp1431delinsGluAsnLeuPhe) | |
2 | g.86030359T>A | CA347545583 | POLR1A | c.4616A>T (p.Asp1539Val) c.4433A>T (p.Asp1478Val) c.4292A>T (p.Asp1431Val) | |
2 | g.86030359T>C | CA347545584 | POLR1A | c.4616A>G (p.Asp1539Gly) c.4433A>G (p.Asp1478Gly) c.4292A>G (p.Asp1431Gly) | |
2 | g.86030359T>G | CA347545586 | POLR1A | c.4616A>C (p.Asp1539Ala) c.4433A>C (p.Asp1478Ala) c.4292A>C (p.Asp1431Ala) | |
2 | g.86030360C>A | CA347545588 | POLR1A | c.4615G>T (p.Asp1539Tyr) c.4432G>T (p.Asp1478Tyr) c.4291G>T (p.Asp1431Tyr) | |
2 | g.86030360C>G | CA347545590 | POLR1A | c.4615G>C (p.Asp1539His) c.4432G>C (p.Asp1478His) c.4291G>C (p.Asp1431His) | COSMIC |
2 | g.86030360C>T | CA347545591 | POLR1A | c.4615G>A (p.Asp1539Asn) c.4432G>A (p.Asp1478Asn) c.4291G>A (p.Asp1431Asn) | |
2 | g.86030361A= | CA1267041347 | POLR1A | c.4614T= (p.Phe1538=) c.4431T= (p.Phe1477=) c.4290T= (p.Phe1430=) | |
2 | g.86030361A>C | CA347545593 | POLR1A | c.4614T>G (p.Phe1538Leu) c.4431T>G (p.Phe1477Leu) c.4290T>G (p.Phe1430Leu) | |
2 | g.86030361A>G | CA51365850 | POLR1A | c.4614T>C (p.Phe1538=) c.4431T>C (p.Phe1477=) c.4290T>C (p.Phe1430=) | dbSNP |
2 | g.86030361A>T | CA347545595 | POLR1A | c.4614T>A (p.Phe1538Leu) c.4431T>A (p.Phe1477Leu) c.4290T>A (p.Phe1430Leu) | |
2 | g.86030362A>C | CA347545597 | POLR1A | c.4613T>G (p.Phe1538Cys) c.4430T>G (p.Phe1477Cys) c.4289T>G (p.Phe1430Cys) | |
2 | g.86030362A>G | CA347545599 | POLR1A | c.4613T>C (p.Phe1538Ser) c.4430T>C (p.Phe1477Ser) c.4289T>C (p.Phe1430Ser) | |
2 | g.86030362A>T | CA347545601 | POLR1A | c.4613T>A (p.Phe1538Tyr) c.4430T>A (p.Phe1477Tyr) c.4289T>A (p.Phe1430Tyr) | |
2 | g.86030362_86030363insGG | CA2750775270 | POLR1A | c.4612_4613insCC (p.Phe1538SerfsTer4) c.4429_4430insCC (p.Phe1477SerfsTer4) c.4288_4289insCC (p.Phe1430SerfsTer4) | |
2 | g.86030363A>C | CA347545606 | POLR1A | c.4612T>G (p.Phe1538Val) c.4429T>G (p.Phe1477Val) c.4288T>G (p.Phe1430Val) | |
2 | g.86030363A>G | CA347545604 | POLR1A | c.4612T>C (p.Phe1538Leu) c.4429T>C (p.Phe1477Leu) c.4288T>C (p.Phe1430Leu) | |
2 | g.86030363A>T | CA347545603 | POLR1A | c.4612T>A (p.Phe1538Ile) c.4429T>A (p.Phe1477Ile) c.4288T>A (p.Phe1430Ile) | |
2 | g.86030364G>A | CA427147196 | POLR1A | c.4611C>T (p.Asn1537=) c.4428C>T (p.Asn1476=) c.4287C>T (p.Asn1429=) | |
2 | g.86030364G>C | CA347545607 | POLR1A | c.4611C>G (p.Asn1537Lys) c.4428C>G (p.Asn1476Lys) c.4287C>G (p.Asn1429Lys) | ClinVar dbSNP |
2 | g.86030364G= | CA1267041348 | POLR1A | c.4611C= (p.Asn1537=) c.4428C= (p.Asn1476=) c.4287C= (p.Asn1429=) | |
2 | g.86030364G>T | CA347545609 | POLR1A | c.4611C>A (p.Asn1537Lys) c.4428C>A (p.Asn1476Lys) c.4287C>A (p.Asn1429Lys) | |
2 | g.86030365T>A | CA1745444 | POLR1A | c.4610A>T (p.Asn1537Ile) c.4427A>T (p.Asn1476Ile) c.4286A>T (p.Asn1429Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030365T>C | CA347545612 | POLR1A | c.4610A>G (p.Asn1537Ser) c.4427A>G (p.Asn1476Ser) c.4286A>G (p.Asn1429Ser) | dbSNP gnomAD v4 |
2 | g.86030365T>G | CA347545613 | POLR1A | c.4610A>C (p.Asn1537Thr) c.4427A>C (p.Asn1476Thr) c.4286A>C (p.Asn1429Thr) | gnomAD v4 |
2 | g.86030365T= | CA1267041349 | POLR1A | c.4610A= (p.Asn1537=) c.4427A= (p.Asn1476=) c.4286A= (p.Asn1429=) | |
2 | g.86030366T>A | CA347545616 | POLR1A | c.4609A>T (p.Asn1537Tyr) c.4426A>T (p.Asn1476Tyr) c.4285A>T (p.Asn1429Tyr) | |
2 | g.86030366T>C | CA347545618 | POLR1A | c.4609A>G (p.Asn1537Asp) c.4426A>G (p.Asn1476Asp) c.4285A>G (p.Asn1429Asp) | gnomAD v4 |
2 | g.86030366T>G | CA347545619 | POLR1A | c.4609A>C (p.Asn1537His) c.4426A>C (p.Asn1476His) c.4285A>C (p.Asn1429His) | |
2 | g.86030367G>A | CA427147198 | POLR1A | c.4608C>T (p.Ile1536=) c.4425C>T (p.Ile1475=) c.4284C>T (p.Ile1428=) | |
2 | g.86030367G>C | CA347545620 | POLR1A | c.4608C>G (p.Ile1536Met) c.4425C>G (p.Ile1475Met) c.4284C>G (p.Ile1428Met) | |
2 | g.86030367G>T | CA427147199 | POLR1A | c.4608C>A (p.Ile1536=) c.4425C>A (p.Ile1475=) c.4284C>A (p.Ile1428=) | |
2 | g.86030368A= | CA1267041350 | POLR1A | c.4607T= (p.Ile1536=) c.4424T= (p.Ile1475=) c.4283T= (p.Ile1428=) | |
2 | g.86030368A>C | CA347545623 | POLR1A | c.4607T>G (p.Ile1536Ser) c.4424T>G (p.Ile1475Ser) c.4283T>G (p.Ile1428Ser) | |
2 | g.86030368A>G | CA347545625 | POLR1A | c.4607T>C (p.Ile1536Thr) c.4424T>C (p.Ile1475Thr) c.4283T>C (p.Ile1428Thr) | dbSNP |
2 | g.86030368A>T | CA1745445 | POLR1A | c.4607T>A (p.Ile1536Asn) c.4424T>A (p.Ile1475Asn) c.4283T>A (p.Ile1428Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.86030369T>A | CA347545629 | POLR1A | c.4606A>T (p.Ile1536Phe) c.4423A>T (p.Ile1475Phe) c.4282A>T (p.Ile1428Phe) | gnomAD v4 |
2 | g.86030369T>C | CA347545631 | POLR1A | c.4606A>G (p.Ile1536Val) c.4423A>G (p.Ile1475Val) c.4282A>G (p.Ile1428Val) | |
2 | g.86030369T>G | CA347545628 | POLR1A | c.4606A>C (p.Ile1536Leu) c.4423A>C (p.Ile1475Leu) c.4282A>C (p.Ile1428Leu) | |
2 | g.86030370C>A | CA347545633 | POLR1A | c.4605G>T (p.Lys1535Asn) c.4422G>T (p.Lys1474Asn) c.4281G>T (p.Lys1427Asn) | |
2 | g.86030370C= | CA1267041351 | POLR1A | c.4605G= (p.Lys1535=) c.4422G= (p.Lys1474=) c.4281G= (p.Lys1427=) | |
2 | g.86030370C>G | CA1745446 | POLR1A | c.4605G>C (p.Lys1535Asn) c.4422G>C (p.Lys1474Asn) c.4281G>C (p.Lys1427Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.86030370C>T | CA427147203 | POLR1A | c.4605G>A (p.Lys1535=) c.4422G>A (p.Lys1474=) c.4281G>A (p.Lys1427=) | gnomAD v4 |
2 | g.86030371T>A | CA347545635 | POLR1A | c.4604A>T (p.Lys1535Met) c.4421A>T (p.Lys1474Met) c.4280A>T (p.Lys1427Met) | |
2 | g.86030371T>C | CA347545637 | POLR1A | c.4604A>G (p.Lys1535Arg) c.4421A>G (p.Lys1474Arg) c.4280A>G (p.Lys1427Arg) | |
2 | g.86030371T>G | CA347545639 | POLR1A | c.4604A>C (p.Lys1535Thr) c.4421A>C (p.Lys1474Thr) c.4280A>C (p.Lys1427Thr) | |
2 | g.86030372T>A | CA347545644 | POLR1A | c.4603A>T (p.Lys1535Ter) c.4420A>T (p.Lys1474Ter) c.4279A>T (p.Lys1427Ter) | |
2 | g.86030372T>C | CA347545641 | POLR1A | c.4603A>G (p.Lys1535Glu) c.4420A>G (p.Lys1474Glu) c.4279A>G (p.Lys1427Glu) | |
2 | g.86030372T>G | CA347545643 | POLR1A | c.4603A>C (p.Lys1535Gln) c.4420A>C (p.Lys1474Gln) c.4279A>C (p.Lys1427Gln) | |
2 | g.86030373C>A | CA347545646 | POLR1A | c.4602G>T (p.Met1534Ile) c.4419G>T (p.Met1473Ile) c.4278G>T (p.Met1426Ile) | |
2 | g.86030373C>G | CA347545648 | POLR1A | c.4602G>C (p.Met1534Ile) c.4419G>C (p.Met1473Ile) c.4278G>C (p.Met1426Ile) | |
2 | g.86030373C>T | CA347545650 | POLR1A | c.4602G>A (p.Met1534Ile) c.4419G>A (p.Met1473Ile) c.4278G>A (p.Met1426Ile) | |
2 | g.86030374A>C | CA347545652 | POLR1A | c.4601T>G (p.Met1534Arg) c.4418T>G (p.Met1473Arg) c.4277T>G (p.Met1426Arg) | |
2 | g.86030374A>G | CA347545654 | POLR1A | c.4601T>C (p.Met1534Thr) c.4418T>C (p.Met1473Thr) c.4277T>C (p.Met1426Thr) | |
2 | g.86030374A>T | CA347545656 | POLR1A | c.4601T>A (p.Met1534Lys) c.4418T>A (p.Met1473Lys) c.4277T>A (p.Met1426Lys) | |
2 | g.86030375T>A | CA347545659 | POLR1A | c.4600A>T (p.Met1534Leu) c.4417A>T (p.Met1473Leu) c.4276A>T (p.Met1426Leu) | |
2 | g.86030375T>C | CA347545660 | POLR1A | c.4600A>G (p.Met1534Val) c.4417A>G (p.Met1473Val) c.4276A>G (p.Met1426Val) | |
2 | g.86030375T>G | CA347545657 | POLR1A | c.4600A>C (p.Met1534Leu) c.4417A>C (p.Met1473Leu) c.4276A>C (p.Met1426Leu) | |
2 | g.86030376C>A | CA427147210 | POLR1A | c.4599G>T (p.Leu1533=) c.4416G>T (p.Leu1472=) c.4275G>T (p.Leu1425=) | |
2 | g.86030376C>G | CA427147211 | POLR1A | c.4599G>C (p.Leu1533=) c.4416G>C (p.Leu1472=) c.4275G>C (p.Leu1425=) | |
2 | g.86030376C>T | CA427147208 | POLR1A | c.4599G>A (p.Leu1533=) c.4416G>A (p.Leu1472=) c.4275G>A (p.Leu1425=) | |
2 | g.86030377A= | CA1267041352 | POLR1A | c.4598T= (p.Leu1533=) c.4415T= (p.Leu1472=) c.4274T= (p.Leu1425=) | |
2 | g.86030377A>C | CA347545663 | POLR1A | c.4598T>G (p.Leu1533Arg) c.4415T>G (p.Leu1472Arg) c.4274T>G (p.Leu1425Arg) | |
2 | g.86030377A>G | CA1745447 | POLR1A | c.4598T>C (p.Leu1533Pro) c.4415T>C (p.Leu1472Pro) c.4274T>C (p.Leu1425Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030377A>T | CA347545665 | POLR1A | c.4598T>A (p.Leu1533Gln) c.4415T>A (p.Leu1472Gln) c.4274T>A (p.Leu1425Gln) | |
2 | g.86030378G>A | CA427147212 | POLR1A | c.4597C>T (p.Leu1533=) c.4414C>T (p.Leu1472=) c.4273C>T (p.Leu1425=) | |
2 | g.86030378G>C | CA1745448 | POLR1A | c.4597C>G (p.Leu1533Val) c.4414C>G (p.Leu1472Val) c.4273C>G (p.Leu1425Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030378G= | CA1267041353 | POLR1A | c.4597C= (p.Leu1533=) c.4414C= (p.Leu1472=) c.4273C= (p.Leu1425=) | |
2 | g.86030378G>T | CA347545668 | POLR1A | c.4597C>A (p.Leu1533Met) c.4414C>A (p.Leu1472Met) c.4273C>A (p.Leu1425Met) | |
2 | g.86030379A>C | CA427147216 | POLR1A | c.4596T>G (p.Pro1532=) c.4413T>G (p.Pro1471=) c.4272T>G (p.Pro1424=) | |
2 | g.86030379A>G | CA427147217 | POLR1A | c.4596T>C (p.Pro1532=) c.4413T>C (p.Pro1471=) c.4272T>C (p.Pro1424=) | |
2 | g.86030379A>T | CA427147218 | POLR1A | c.4596T>A (p.Pro1532=) c.4413T>A (p.Pro1471=) c.4272T>A (p.Pro1424=) | |
2 | g.86030380G>A | CA347545670 | POLR1A | c.4595C>T (p.Pro1532Leu) c.4412C>T (p.Pro1471Leu) c.4271C>T (p.Pro1424Leu) | dbSNP gnomAD v4 |
2 | g.86030380G>C | CA347545672 | POLR1A | c.4595C>G (p.Pro1532Arg) c.4412C>G (p.Pro1471Arg) c.4271C>G (p.Pro1424Arg) | gnomAD v4 |
2 | g.86030380G= | CA1267041354 | POLR1A | c.4595C= (p.Pro1532=) c.4412C= (p.Pro1471=) c.4271C= (p.Pro1424=) | |
2 | g.86030380G>T | CA347545673 | POLR1A | c.4595C>A (p.Pro1532His) c.4412C>A (p.Pro1471His) c.4271C>A (p.Pro1424His) | |
2 | g.86030381G>A | CA347545674 | POLR1A | c.4594C>T (p.Pro1532Ser) c.4411C>T (p.Pro1471Ser) c.4270C>T (p.Pro1424Ser) | |
2 | g.86030381G>C | CA347545676 | POLR1A | c.4594C>G (p.Pro1532Ala) c.4411C>G (p.Pro1471Ala) c.4270C>G (p.Pro1424Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.86030381G= | CA1267041355 | POLR1A | c.4594C= (p.Pro1532=) c.4411C= (p.Pro1471=) c.4270C= (p.Pro1424=) | |
2 | g.86030381G>T | CA347545678 | POLR1A | c.4594C>A (p.Pro1532Thr) c.4411C>A (p.Pro1471Thr) c.4270C>A (p.Pro1424Thr) | |
2 | g.86030382G>A | CA427147222 | POLR1A | c.4593C>T (p.Leu1531=) c.4410C>T (p.Leu1470=) c.4269C>T (p.Leu1423=) | COSMIC |
2 | g.86030382G>C | CA427147223 | POLR1A | c.4593C>G (p.Leu1531=) c.4410C>G (p.Leu1470=) c.4269C>G (p.Leu1423=) | |
2 | g.86030382G>T | CA427147224 | POLR1A | c.4593C>A (p.Leu1531=) c.4410C>A (p.Leu1470=) c.4269C>A (p.Leu1423=) | |
2 | g.86030383A= | CA1267041356 | POLR1A | c.4592T= (p.Leu1531=) c.4409T= (p.Leu1470=) c.4268T= (p.Leu1423=) | |
2 | g.86030383A>C | CA1745449 | POLR1A | c.4592T>G (p.Leu1531Arg) c.4409T>G (p.Leu1470Arg) c.4268T>G (p.Leu1423Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030383A>G | CA347545680 | POLR1A | c.4592T>C (p.Leu1531Pro) c.4409T>C (p.Leu1470Pro) c.4268T>C (p.Leu1423Pro) | |
2 | g.86030383A>T | CA347545682 | POLR1A | c.4592T>A (p.Leu1531His) c.4409T>A (p.Leu1470His) c.4268T>A (p.Leu1423His) | |
2 | g.86030384G>A | CA347545687 | POLR1A | c.4591C>T (p.Leu1531Phe) c.4408C>T (p.Leu1470Phe) c.4267C>T (p.Leu1423Phe) | |
2 | g.86030384G>C | CA347545686 | POLR1A | c.4591C>G (p.Leu1531Val) c.4408C>G (p.Leu1470Val) c.4267C>G (p.Leu1423Val) | |
2 | g.86030384G>T | CA347545684 | POLR1A | c.4591C>A (p.Leu1531Ile) c.4408C>A (p.Leu1470Ile) c.4267C>A (p.Leu1423Ile) | |
2 | g.86030385C>A | CA347545689 | POLR1A | c.4590G>T (p.Lys1530Asn) c.4407G>T (p.Lys1469Asn) c.4266G>T (p.Lys1422Asn) | |
2 | g.86030385C= | CA1267041357 | POLR1A | c.4590G= (p.Lys1530=) c.4407G= (p.Lys1469=) c.4266G= (p.Lys1422=) | |
2 | g.86030385C>G | CA347545690 | POLR1A | c.4590G>C (p.Lys1530Asn) c.4407G>C (p.Lys1469Asn) c.4266G>C (p.Lys1422Asn) | |
2 | g.86030385C>T | CA1745450 | POLR1A | c.4590G>A (p.Lys1530=) c.4407G>A (p.Lys1469=) c.4266G>A (p.Lys1422=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030386T>A | CA347545693 | POLR1A | c.4589A>T (p.Lys1530Met) c.4406A>T (p.Lys1469Met) c.4265A>T (p.Lys1422Met) | |
2 | g.86030386T>C | CA347545695 | POLR1A | c.4589A>G (p.Lys1530Arg) c.4406A>G (p.Lys1469Arg) c.4265A>G (p.Lys1422Arg) | |
2 | g.86030386T>G | CA347545696 | POLR1A | c.4589A>C (p.Lys1530Thr) c.4406A>C (p.Lys1469Thr) c.4265A>C (p.Lys1422Thr) | |
2 | g.86030387T>A | CA347545699 | POLR1A | c.4588A>T (p.Lys1530Ter) c.4405A>T (p.Lys1469Ter) c.4264A>T (p.Lys1422Ter) | |
2 | g.86030387T>C | CA347545701 | POLR1A | c.4588A>G (p.Lys1530Glu) c.4405A>G (p.Lys1469Glu) c.4264A>G (p.Lys1422Glu) | |
2 | g.86030387T>G | CA347545702 | POLR1A | c.4588A>C (p.Lys1530Gln) c.4405A>C (p.Lys1469Gln) c.4264A>C (p.Lys1422Gln) | |
2 | g.86030388C>A | CA427147232 | POLR1A | c.4587G>T (p.Val1529=) c.4404G>T (p.Val1468=) c.4263G>T (p.Val1421=) | |
2 | g.86030388C>G | CA427147233 | POLR1A | c.4587G>C (p.Val1529=) c.4404G>C (p.Val1468=) c.4263G>C (p.Val1421=) | |
2 | g.86030388C>T | CA427147231 | POLR1A | c.4587G>A (p.Val1529=) c.4404G>A (p.Val1468=) c.4263G>A (p.Val1421=) | gnomAD v4 |
2 | g.86030389A>C | CA347545703 | POLR1A | c.4586T>G (p.Val1529Gly) c.4403T>G (p.Val1468Gly) c.4262T>G (p.Val1421Gly) | |
2 | g.86030389A>G | CA347545705 | POLR1A | c.4586T>C (p.Val1529Ala) c.4403T>C (p.Val1468Ala) c.4262T>C (p.Val1421Ala) | |
2 | g.86030389A>T | CA347545706 | POLR1A | c.4586T>A (p.Val1529Glu) c.4403T>A (p.Val1468Glu) c.4262T>A (p.Val1421Glu) | |
2 | g.86030390C>A | CA347545709 | POLR1A | c.4585G>T (p.Val1529Leu) c.4402G>T (p.Val1468Leu) c.4261G>T (p.Val1421Leu) | |
2 | g.86030390C= | CA1267041358 | POLR1A | c.4585G= (p.Val1529=) c.4402G= (p.Val1468=) c.4261G= (p.Val1421=) | |
2 | g.86030390C>G | CA347545711 | POLR1A | c.4585G>C (p.Val1529Leu) c.4402G>C (p.Val1468Leu) c.4261G>C (p.Val1421Leu) | |
2 | g.86030390C>T | CA1745451 | POLR1A | c.4585G>A (p.Val1529Met) c.4402G>A (p.Val1468Met) c.4261G>A (p.Val1421Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030391T>A | CA427147236 | POLR1A | c.4584A>T (p.Thr1528=) c.4401A>T (p.Thr1467=) c.4260A>T (p.Thr1420=) | |
2 | g.86030391T>C | CA427147237 | POLR1A | c.4584A>G (p.Thr1528=) c.4401A>G (p.Thr1467=) c.4260A>G (p.Thr1420=) | |
2 | g.86030391T>G | CA427147238 | POLR1A | c.4584A>C (p.Thr1528=) c.4401A>C (p.Thr1467=) c.4260A>C (p.Thr1420=) | |
2 | g.86030392G>A | CA347545714 | POLR1A | c.4583C>T (p.Thr1528Ile) c.4400C>T (p.Thr1467Ile) c.4259C>T (p.Thr1420Ile) | |
2 | g.86030392G>C | CA1745452 | POLR1A | c.4583C>G (p.Thr1528Arg) c.4400C>G (p.Thr1467Arg) c.4259C>G (p.Thr1420Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030392G= | CA1267041359 | POLR1A | c.4583C= (p.Thr1528=) c.4400C= (p.Thr1467=) c.4259C= (p.Thr1420=) | |
2 | g.86030392G>T | CA347545716 | POLR1A | c.4583C>A (p.Thr1528Lys) c.4400C>A (p.Thr1467Lys) c.4259C>A (p.Thr1420Lys) | |
2 | g.86030393T>A | CA347545717 | POLR1A | c.4582A>T (p.Thr1528Ser) c.4399A>T (p.Thr1467Ser) c.4258A>T (p.Thr1420Ser) | |
2 | g.86030393T>C | CA347545718 | POLR1A | c.4582A>G (p.Thr1528Ala) c.4399A>G (p.Thr1467Ala) c.4258A>G (p.Thr1420Ala) | |
2 | g.86030393T>G | CA347545721 | POLR1A | c.4582A>C (p.Thr1528Pro) c.4399A>C (p.Thr1467Pro) c.4258A>C (p.Thr1420Pro) | |
2 | g.86030394C>A | CA427147240 | POLR1A | c.4581G>T (p.Val1527=) c.4398G>T (p.Val1466=) c.4257G>T (p.Val1419=) | |
2 | g.86030394C>G | CA427147241 | POLR1A | c.4581G>C (p.Val1527=) c.4398G>C (p.Val1466=) c.4257G>C (p.Val1419=) | |
2 | g.86030394C>T | CA427147242 | POLR1A | c.4581G>A (p.Val1527=) c.4398G>A (p.Val1466=) c.4257G>A (p.Val1419=) | |
2 | g.86030395A>C | CA347545723 | POLR1A | c.4580T>G (p.Val1527Gly) c.4397T>G (p.Val1466Gly) c.4256T>G (p.Val1419Gly) | |
2 | g.86030395A>G | CA347545725 | POLR1A | c.4580T>C (p.Val1527Ala) c.4397T>C (p.Val1466Ala) c.4256T>C (p.Val1419Ala) | gnomAD v4 |
2 | g.86030395A>T | CA347545727 | POLR1A | c.4580T>A (p.Val1527Glu) c.4397T>A (p.Val1466Glu) c.4256T>A (p.Val1419Glu) | |
2 | g.86030396C>A | CA347545729 | POLR1A | c.4579G>T (p.Val1527Leu) c.4396G>T (p.Val1466Leu) c.4255G>T (p.Val1419Leu) | |
2 | g.86030396C= | CA1267041360 | POLR1A | c.4579G= (p.Val1527=) c.4396G= (p.Val1466=) c.4255G= (p.Val1419=) | |
2 | g.86030396C>G | CA1745453 | POLR1A | c.4579G>C (p.Val1527Leu) c.4396G>C (p.Val1466Leu) c.4255G>C (p.Val1419Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030396C>T | CA347545732 | POLR1A | c.4579G>A (p.Val1527Met) c.4396G>A (p.Val1466Met) c.4255G>A (p.Val1419Met) | dbSNP gnomAD v4 |
2 | g.86030396_86030397insGTGTTTCAGATAATAA | CA1267041361 | POLR1A | c.4579-1_4579insTTATTATCTGAAACAC (n.4579-1_4579insTTATTATCTGAAACAC) c.4396-1_4396insTTATTATCTGAAACAC (n.4396-1_4396insTTATTATCTGAAACAC) c.4255-1_4255insTTATTATCTGAAACAC (n.4255-1_4255insTTATTATCTGAAACAC) | dbSNP |
2 | g.86030397C>A | CA347545736 | POLR1A | c.4579-1G>T (n.4579-1G>T) c.4396-1G>T (n.4396-1G>T) c.4255-1G>T (n.4255-1G>T) | |
2 | g.86030397C>G | CA347545738 | POLR1A | c.4579-1G>C (n.4579-1G>C) c.4396-1G>C (n.4396-1G>C) c.4255-1G>C (n.4255-1G>C) | |
2 | g.86030397C>T | CA347545735 | POLR1A | c.4579-1G>A (n.4579-1G>A) c.4396-1G>A (n.4396-1G>A) c.4255-1G>A (n.4255-1G>A) | |
2 | g.86030398T>A | CA347545739 | POLR1A | c.4579-2A>T (n.4579-2A>T) c.4396-2A>T (n.4396-2A>T) c.4255-2A>T (n.4255-2A>T) | |
2 | g.86030398T>C | CA347545740 | POLR1A | c.4579-2A>G (n.4579-2A>G) c.4396-2A>G (n.4396-2A>G) c.4255-2A>G (n.4255-2A>G) | gnomAD v4 |
2 | g.86030398T>G | CA347545742 | POLR1A | c.4579-2A>C (n.4579-2A>C) c.4396-2A>C (n.4396-2A>C) c.4255-2A>C (n.4255-2A>C) | |
2 | g.86030398T= | CA1267041362 | POLR1A | c.4579-2A= (n.4579-2A=) c.4396-2A= (n.4396-2A=) c.4255-2A= (n.4255-2A=) | |
2 | g.86030398_86030399insTCCAG | CA1267041363 | POLR1A | c.4579-3_4579-2insCTGGA (n.4579-3_4579-2insCTGGA) c.4396-3_4396-2insCTGGA (n.4396-3_4396-2insCTGGA) c.4255-3_4255-2insCTGGA (n.4255-3_4255-2insCTGGA) | dbSNP |
2 | g.86030399G>A | CA2659905225 | POLR1A | c.4579-3C>T (n.4579-3C>T) c.4396-3C>T (n.4396-3C>T) c.4255-3C>T (n.4255-3C>T) | gnomAD v4 |
2 | g.86030399G>T | CA2659905226 | POLR1A | c.4579-3C>A (n.4579-3C>A) c.4396-3C>A (n.4396-3C>A) c.4255-3C>A (n.4255-3C>A) | gnomAD v4 |
2 | g.86030401A= | CA1267041364 | POLR1A | c.4579-5T= (n.4579-5T=) c.4396-5T= (n.4396-5T=) c.4255-5T= (n.4255-5T=) | |
2 | g.86030401_86030402insG | CA1267041365 | POLR1A | c.4579-6_4579-5insC (n.4579-6_4579-5insC) c.4396-6_4396-5insC (n.4396-6_4396-5insC) c.4255-6_4255-5insC (n.4255-6_4255-5insC) | dbSNP |
2 | g.86030402A= | CA1267041366 | POLR1A | c.4579-6T= (n.4579-6T=) c.4396-6T= (n.4396-6T=) c.4255-6T= (n.4255-6T=) |