Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.86030260T>A | CA347545376 | POLR1A | c.4715A>T (p.Asn1572Ile) c.4532A>T (p.Asn1511Ile) c.4391A>T (p.Asn1464Ile) | |
2 | g.86030260T>C | CA1745420 | POLR1A | c.4715A>G (p.Asn1572Ser) c.4532A>G (p.Asn1511Ser) c.4391A>G (p.Asn1464Ser) | dbSNP ExAC gnomAD v4 |
2 | g.86030260T>G | CA347545377 | POLR1A | c.4715A>C (p.Asn1572Thr) c.4532A>C (p.Asn1511Thr) c.4391A>C (p.Asn1464Thr) | |
2 | g.86030260T= | CA1267041300 | POLR1A | c.4715A= (p.Asn1572=) c.4532A= (p.Asn1511=) c.4391A= (p.Asn1464=) | |
2 | g.86030261T>A | CA347545378 | POLR1A | c.4714A>T (p.Asn1572Tyr) c.4531A>T (p.Asn1511Tyr) c.4390A>T (p.Asn1464Tyr) | |
2 | g.86030261T>C | CA347545379 | POLR1A | c.4714A>G (p.Asn1572Asp) c.4531A>G (p.Asn1511Asp) c.4390A>G (p.Asn1464Asp) | |
2 | g.86030261T>G | CA347545380 | POLR1A | c.4714A>C (p.Asn1572His) c.4531A>C (p.Asn1511His) c.4390A>C (p.Asn1464His) | |
2 | g.86030262C>A | CA347545382 | POLR1A | c.4713G>T (p.Lys1571Asn) c.4530G>T (p.Lys1510Asn) c.4389G>T (p.Lys1463Asn) | |
2 | g.86030262C>G | CA347545381 | POLR1A | c.4713G>C (p.Lys1571Asn) c.4530G>C (p.Lys1510Asn) c.4389G>C (p.Lys1463Asn) | |
2 | g.86030262C>T | CA427147058 | POLR1A | c.4713G>A (p.Lys1571=) c.4530G>A (p.Lys1510=) c.4389G>A (p.Lys1463=) | COSMIC |
2 | g.86030263T>A | CA347545383 | POLR1A | c.4712A>T (p.Lys1571Met) c.4529A>T (p.Lys1510Met) c.4388A>T (p.Lys1463Met) | |
2 | g.86030263T>C | CA347545384 | POLR1A | c.4712A>G (p.Lys1571Arg) c.4529A>G (p.Lys1510Arg) c.4388A>G (p.Lys1463Arg) | |
2 | g.86030263T>G | CA347545385 | POLR1A | c.4712A>C (p.Lys1571Thr) c.4529A>C (p.Lys1510Thr) c.4388A>C (p.Lys1463Thr) | |
2 | g.86030264T>A | CA347545386 | POLR1A | c.4711A>T (p.Lys1571Ter) c.4528A>T (p.Lys1510Ter) c.4387A>T (p.Lys1463Ter) | |
2 | g.86030264T>C | CA347545387 | POLR1A | c.4711A>G (p.Lys1571Glu) c.4528A>G (p.Lys1510Glu) c.4387A>G (p.Lys1463Glu) | |
2 | g.86030264T>G | CA347545388 | POLR1A | c.4711A>C (p.Lys1571Gln) c.4528A>C (p.Lys1510Gln) c.4387A>C (p.Lys1463Gln) | |
2 | g.86030265A= | CA1267041301 | POLR1A | c.4710T= (p.Asn1570=) c.4527T= (p.Asn1509=) c.4386T= (p.Asn1462=) | |
2 | g.86030265A>C | CA347545389 | POLR1A | c.4710T>G (p.Asn1570Lys) c.4527T>G (p.Asn1509Lys) c.4386T>G (p.Asn1462Lys) | |
2 | g.86030265A>G | CA427147060 | POLR1A | c.4710T>C (p.Asn1570=) c.4527T>C (p.Asn1509=) c.4386T>C (p.Asn1462=) | dbSNP gnomAD v4 |
2 | g.86030265A>T | CA347545390 | POLR1A | c.4710T>A (p.Asn1570Lys) c.4527T>A (p.Asn1509Lys) c.4386T>A (p.Asn1462Lys) | |
2 | g.86030266T>A | CA347545391 | POLR1A | c.4709A>T (p.Asn1570Ile) c.4526A>T (p.Asn1509Ile) c.4385A>T (p.Asn1462Ile) | |
2 | g.86030266T>C | CA347545392 | POLR1A | c.4709A>G (p.Asn1570Ser) c.4526A>G (p.Asn1509Ser) c.4385A>G (p.Asn1462Ser) | dbSNP gnomAD v4 |
2 | g.86030266T>G | CA347545393 | POLR1A | c.4709A>C (p.Asn1570Thr) c.4526A>C (p.Asn1509Thr) c.4385A>C (p.Asn1462Thr) | |
2 | g.86030266T= | CA1267041302 | POLR1A | c.4709A= (p.Asn1570=) c.4526A= (p.Asn1509=) c.4385A= (p.Asn1462=) | |
2 | g.86030267T>A | CA347545394 | POLR1A | c.4708A>T (p.Asn1570Tyr) c.4525A>T (p.Asn1509Tyr) c.4384A>T (p.Asn1462Tyr) | |
2 | g.86030267T>C | CA347545395 | POLR1A | c.4708A>G (p.Asn1570Asp) c.4525A>G (p.Asn1509Asp) c.4384A>G (p.Asn1462Asp) | |
2 | g.86030267T>G | CA51365709 | POLR1A | c.4708A>C (p.Asn1570His) c.4525A>C (p.Asn1509His) c.4384A>C (p.Asn1462His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030267T= | CA1267041303 | POLR1A | c.4708A= (p.Asn1570=) c.4525A= (p.Asn1509=) c.4384A= (p.Asn1462=) | |
2 | g.86030268G>A | CA427147065 | POLR1A | c.4707C>T (p.Asn1569=) c.4524C>T (p.Asn1508=) c.4383C>T (p.Asn1461=) | ClinVar |
2 | g.86030268G>C | CA347545397 | POLR1A | c.4707C>G (p.Asn1569Lys) c.4524C>G (p.Asn1508Lys) c.4383C>G (p.Asn1461Lys) | |
2 | g.86030268G= | CA1267041304 | POLR1A | c.4707C= (p.Asn1569=) c.4524C= (p.Asn1508=) c.4383C= (p.Asn1461=) | |
2 | g.86030268G>T | CA347545396 | POLR1A | c.4707C>A (p.Asn1569Lys) c.4524C>A (p.Asn1508Lys) c.4383C>A (p.Asn1461Lys) | dbSNP gnomAD v2 |
2 | g.86030269T>A | CA347545398 | POLR1A | c.4706A>T (p.Asn1569Ile) c.4523A>T (p.Asn1508Ile) c.4382A>T (p.Asn1461Ile) | |
2 | g.86030269T>C | CA1745421 | POLR1A | c.4706A>G (p.Asn1569Ser) c.4523A>G (p.Asn1508Ser) c.4382A>G (p.Asn1461Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030269T>G | CA347545399 | POLR1A | c.4706A>C (p.Asn1569Thr) c.4523A>C (p.Asn1508Thr) c.4382A>C (p.Asn1461Thr) | |
2 | g.86030269T= | CA1267041305 | POLR1A | c.4706A= (p.Asn1569=) c.4523A= (p.Asn1508=) c.4382A= (p.Asn1461=) | |
2 | g.86030270T>A | CA347545400 | POLR1A | c.4705A>T (p.Asn1569Tyr) c.4522A>T (p.Asn1508Tyr) c.4381A>T (p.Asn1461Tyr) | |
2 | g.86030270T>C | CA347545401 | POLR1A | c.4705A>G (p.Asn1569Asp) c.4522A>G (p.Asn1508Asp) c.4381A>G (p.Asn1461Asp) | |
2 | g.86030270T>G | CA347545402 | POLR1A | c.4705A>C (p.Asn1569His) c.4522A>C (p.Asn1508His) c.4381A>C (p.Asn1461His) | |
2 | g.86030271G>A | CA427147069 | POLR1A | c.4704C>T (p.Thr1568=) c.4521C>T (p.Thr1507=) c.4380C>T (p.Thr1460=) | |
2 | g.86030271G>C | CA427147070 | POLR1A | c.4704C>G (p.Thr1568=) c.4521C>G (p.Thr1507=) c.4380C>G (p.Thr1460=) | |
2 | g.86030271G= | CA1267041306 | POLR1A | c.4704C= (p.Thr1568=) c.4521C= (p.Thr1507=) c.4380C= (p.Thr1460=) | |
2 | g.86030271G>T | CA427147071 | POLR1A | c.4704C>A (p.Thr1568=) c.4521C>A (p.Thr1507=) c.4380C>A (p.Thr1460=) | dbSNP |
2 | g.86030272G>A | CA347545403 | POLR1A | c.4703C>T (p.Thr1568Ile) c.4520C>T (p.Thr1507Ile) c.4379C>T (p.Thr1460Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.86030272G>C | CA347545404 | POLR1A | c.4703C>G (p.Thr1568Ser) c.4520C>G (p.Thr1507Ser) c.4379C>G (p.Thr1460Ser) | |
2 | g.86030272G= | CA1267041307 | POLR1A | c.4703C= (p.Thr1568=) c.4520C= (p.Thr1507=) c.4379C= (p.Thr1460=) | |
2 | g.86030272G>T | CA347545405 | POLR1A | c.4703C>A (p.Thr1568Asn) c.4520C>A (p.Thr1507Asn) c.4379C>A (p.Thr1460Asn) | dbSNP |
2 | g.86030273T>A | CA347545406 | POLR1A | c.4702A>T (p.Thr1568Ser) c.4519A>T (p.Thr1507Ser) c.4378A>T (p.Thr1460Ser) | |
2 | g.86030273T>C | CA347545407 | POLR1A | c.4702A>G (p.Thr1568Ala) c.4519A>G (p.Thr1507Ala) c.4378A>G (p.Thr1460Ala) | |
2 | g.86030273T>G | CA347545408 | POLR1A | c.4702A>C (p.Thr1568Pro) c.4519A>C (p.Thr1507Pro) c.4378A>C (p.Thr1460Pro) | |
2 | g.86030274T>A | CA427147075 | POLR1A | c.4701A>T (p.Thr1567=) c.4518A>T (p.Thr1506=) c.4377A>T (p.Thr1459=) | |
2 | g.86030274T>C | CA427147076 | POLR1A | c.4701A>G (p.Thr1567=) c.4518A>G (p.Thr1506=) c.4377A>G (p.Thr1459=) | |
2 | g.86030274T>G | CA427147078 | POLR1A | c.4701A>C (p.Thr1567=) c.4518A>C (p.Thr1506=) c.4377A>C (p.Thr1459=) | |
2 | g.86030275G>A | CA51365711 | POLR1A | c.4700C>T (p.Thr1567Ile) c.4517C>T (p.Thr1506Ile) c.4376C>T (p.Thr1459Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030275G>C | CA347545409 | POLR1A | c.4700C>G (p.Thr1567Arg) c.4517C>G (p.Thr1506Arg) c.4376C>G (p.Thr1459Arg) | |
2 | g.86030275G= | CA1267041308 | POLR1A | c.4700C= (p.Thr1567=) c.4517C= (p.Thr1506=) c.4376C= (p.Thr1459=) | |
2 | g.86030275G>T | CA347545410 | POLR1A | c.4700C>A (p.Thr1567Lys) c.4517C>A (p.Thr1506Lys) c.4376C>A (p.Thr1459Lys) | |
2 | g.86030276T>A | CA347545412 | POLR1A | c.4699A>T (p.Thr1567Ser) c.4516A>T (p.Thr1506Ser) c.4375A>T (p.Thr1459Ser) | |
2 | g.86030276T>C | CA1745422 | POLR1A | c.4699A>G (p.Thr1567Ala) c.4516A>G (p.Thr1506Ala) c.4375A>G (p.Thr1459Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030276T>G | CA347545411 | POLR1A | c.4699A>C (p.Thr1567Pro) c.4516A>C (p.Thr1506Pro) c.4375A>C (p.Thr1459Pro) | |
2 | g.86030276T= | CA1267041309 | POLR1A | c.4699A= (p.Thr1567=) c.4516A= (p.Thr1506=) c.4375A= (p.Thr1459=) | |
2 | g.86030277T>A | CA347545413 | POLR1A | c.4698A>T (p.Glu1566Asp) c.4515A>T (p.Glu1505Asp) c.4374A>T (p.Glu1458Asp) | |
2 | g.86030277T>C | CA427147082 | POLR1A | c.4698A>G (p.Glu1566=) c.4515A>G (p.Glu1505=) c.4374A>G (p.Glu1458=) | |
2 | g.86030277T>G | CA347545414 | POLR1A | c.4698A>C (p.Glu1566Asp) c.4515A>C (p.Glu1505Asp) c.4374A>C (p.Glu1458Asp) | |
2 | g.86030278T>A | CA347545415 | POLR1A | c.4697A>T (p.Glu1566Val) c.4514A>T (p.Glu1505Val) c.4373A>T (p.Glu1458Val) | |
2 | g.86030278T>C | CA347545416 | POLR1A | c.4697A>G (p.Glu1566Gly) c.4514A>G (p.Glu1505Gly) c.4373A>G (p.Glu1458Gly) | |
2 | g.86030278T>G | CA347545417 | POLR1A | c.4697A>C (p.Glu1566Ala) c.4514A>C (p.Glu1505Ala) c.4373A>C (p.Glu1458Ala) | gnomAD v4 |
2 | g.86030279C>A | CA347545418 | POLR1A | c.4696G>T (p.Glu1566Ter) c.4513G>T (p.Glu1505Ter) c.4372G>T (p.Glu1458Ter) | |
2 | g.86030279C>G | CA347545419 | POLR1A | c.4696G>C (p.Glu1566Gln) c.4513G>C (p.Glu1505Gln) c.4372G>C (p.Glu1458Gln) | |
2 | g.86030279C>T | CA347545420 | POLR1A | c.4696G>A (p.Glu1566Lys) c.4513G>A (p.Glu1505Lys) c.4372G>A (p.Glu1458Lys) | COSMIC |
2 | g.86030280A= | CA1267041310 | POLR1A | c.4695T= (p.Asn1565=) c.4512T= (p.Asn1504=) c.4371T= (p.Asn1457=) | |
2 | g.86030280A>C | CA1745423 | POLR1A | c.4695T>G (p.Asn1565Lys) c.4512T>G (p.Asn1504Lys) c.4371T>G (p.Asn1457Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030280A>G | CA427147084 | POLR1A | c.4695T>C (p.Asn1565=) c.4512T>C (p.Asn1504=) c.4371T>C (p.Asn1457=) | |
2 | g.86030280A>T | CA347545421 | POLR1A | c.4695T>A (p.Asn1565Lys) c.4512T>A (p.Asn1504Lys) c.4371T>A (p.Asn1457Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.86030281T>A | CA347545422 | POLR1A | c.4694A>T (p.Asn1565Ile) c.4511A>T (p.Asn1504Ile) c.4370A>T (p.Asn1457Ile) | |
2 | g.86030281T>C | CA347545423 | POLR1A | c.4694A>G (p.Asn1565Ser) c.4511A>G (p.Asn1504Ser) c.4370A>G (p.Asn1457Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.86030281T>G | CA347545424 | POLR1A | c.4694A>C (p.Asn1565Thr) c.4511A>C (p.Asn1504Thr) c.4370A>C (p.Asn1457Thr) | |
2 | g.86030281T= | CA1267041311 | POLR1A | c.4694A= (p.Asn1565=) c.4511A= (p.Asn1504=) c.4370A= (p.Asn1457=) | |
2 | g.86030282T>A | CA347545426 | POLR1A | c.4693A>T (p.Asn1565Tyr) c.4510A>T (p.Asn1504Tyr) c.4369A>T (p.Asn1457Tyr) | |
2 | g.86030282T>C | CA347545427 | POLR1A | c.4693A>G (p.Asn1565Asp) c.4510A>G (p.Asn1504Asp) c.4369A>G (p.Asn1457Asp) | |
2 | g.86030282T>G | CA347545425 | POLR1A | c.4693A>C (p.Asn1565His) c.4510A>C (p.Asn1504His) c.4369A>C (p.Asn1457His) | |
2 | g.86030283C>A | CA1745424 | POLR1A | c.4692G>T (p.Leu1564=) c.4509G>T (p.Leu1503=) c.4368G>T (p.Leu1456=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030283C= | CA1267041312 | POLR1A | c.4692G= (p.Leu1564=) c.4509G= (p.Leu1503=) c.4368G= (p.Leu1456=) | |
2 | g.86030283C>G | CA427147088 | POLR1A | c.4692G>C (p.Leu1564=) c.4509G>C (p.Leu1503=) c.4368G>C (p.Leu1456=) | |
2 | g.86030283C>T | CA427147089 | POLR1A | c.4692G>A (p.Leu1564=) c.4509G>A (p.Leu1503=) c.4368G>A (p.Leu1456=) | gnomAD v4 |
2 | g.86030284A>C | CA347545428 | POLR1A | c.4691T>G (p.Leu1564Arg) c.4508T>G (p.Leu1503Arg) c.4367T>G (p.Leu1456Arg) | |
2 | g.86030284A>G | CA347545429 | POLR1A | c.4691T>C (p.Leu1564Pro) c.4508T>C (p.Leu1503Pro) c.4367T>C (p.Leu1456Pro) | |
2 | g.86030284A>T | CA347545430 | POLR1A | c.4691T>A (p.Leu1564Gln) c.4508T>A (p.Leu1503Gln) c.4367T>A (p.Leu1456Gln) | |
2 | g.86030285G>A | CA427147091 | POLR1A | c.4690C>T (p.Leu1564=) c.4507C>T (p.Leu1503=) c.4366C>T (p.Leu1456=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.86030285G>C | CA347545431 | POLR1A | c.4690C>G (p.Leu1564Val) c.4507C>G (p.Leu1503Val) c.4366C>G (p.Leu1456Val) | |
2 | g.86030285G= | CA1267041313 | POLR1A | c.4690C= (p.Leu1564=) c.4507C= (p.Leu1503=) c.4366C= (p.Leu1456=) | |
2 | g.86030285G>T | CA347545432 | POLR1A | c.4690C>A (p.Leu1564Met) c.4507C>A (p.Leu1503Met) c.4366C>A (p.Leu1456Met) | |
2 | g.86030286G>A | CA1745425 | POLR1A | c.4689C>T (p.Leu1563=) c.4506C>T (p.Leu1502=) c.4365C>T (p.Leu1455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030286G>C | CA427147092 | POLR1A | c.4689C>G (p.Leu1563=) c.4506C>G (p.Leu1502=) c.4365C>G (p.Leu1455=) | |
2 | g.86030286G= | CA1267041314 | POLR1A | c.4689C= (p.Leu1563=) c.4506C= (p.Leu1502=) c.4365C= (p.Leu1455=) | |
2 | g.86030286G>T | CA427147093 | POLR1A | c.4689C>A (p.Leu1563=) c.4506C>A (p.Leu1502=) c.4365C>A (p.Leu1455=) | |
2 | g.86030287A>C | CA347545433 | POLR1A | c.4688T>G (p.Leu1563Arg) c.4505T>G (p.Leu1502Arg) c.4364T>G (p.Leu1455Arg) | |
2 | g.86030287A>G | CA347545434 | POLR1A | c.4688T>C (p.Leu1563Pro) c.4505T>C (p.Leu1502Pro) c.4364T>C (p.Leu1455Pro) | |
2 | g.86030287A>T | CA347545435 | POLR1A | c.4688T>A (p.Leu1563His) c.4505T>A (p.Leu1502His) c.4364T>A (p.Leu1455His) | |
2 | g.86030288G>A | CA347545436 | POLR1A | c.4687C>T (p.Leu1563Phe) c.4504C>T (p.Leu1502Phe) c.4363C>T (p.Leu1455Phe) | gnomAD v4 |
2 | g.86030288G>C | CA347545437 | POLR1A | c.4687C>G (p.Leu1563Val) c.4504C>G (p.Leu1502Val) c.4363C>G (p.Leu1455Val) | |
2 | g.86030288G>T | CA347545438 | POLR1A | c.4687C>A (p.Leu1563Ile) c.4504C>A (p.Leu1502Ile) c.4363C>A (p.Leu1455Ile) | |
2 | g.86030289G>A | CA427147096 | POLR1A | c.4686C>T (p.Cys1562=) c.4503C>T (p.Cys1501=) c.4362C>T (p.Cys1454=) | |
2 | g.86030289G>C | CA347545439 | POLR1A | c.4686C>G (p.Cys1562Trp) c.4503C>G (p.Cys1501Trp) c.4362C>G (p.Cys1454Trp) | |
2 | g.86030289G>T | CA347545440 | POLR1A | c.4686C>A (p.Cys1562Ter) c.4503C>A (p.Cys1501Ter) c.4362C>A (p.Cys1454Ter) | |
2 | g.86030290C>A | CA16617768 | POLR1A | c.4685G>T (p.Cys1562Phe) c.4502G>T (p.Cys1501Phe) c.4361G>T (p.Cys1454Phe) | ClinVar dbSNP |
2 | g.86030290C= | CA1267041315 | POLR1A | c.4685G= (p.Cys1562=) c.4502G= (p.Cys1501=) c.4361G= (p.Cys1454=) | |
2 | g.86030290C>G | CA347545441 | POLR1A | c.4685G>C (p.Cys1562Ser) c.4502G>C (p.Cys1501Ser) c.4361G>C (p.Cys1454Ser) | |
2 | g.86030290C>T | CA347545442 | POLR1A | c.4685G>A (p.Cys1562Tyr) c.4502G>A (p.Cys1501Tyr) c.4361G>A (p.Cys1454Tyr) | |
2 | g.86030291A>C | CA347545443 | POLR1A | c.4684T>G (p.Cys1562Gly) c.4501T>G (p.Cys1501Gly) c.4360T>G (p.Cys1454Gly) | |
2 | g.86030291A>G | CA347545444 | POLR1A | c.4684T>C (p.Cys1562Arg) c.4501T>C (p.Cys1501Arg) c.4360T>C (p.Cys1454Arg) | |
2 | g.86030291A>T | CA347545445 | POLR1A | c.4684T>A (p.Cys1562Ser) c.4501T>A (p.Cys1501Ser) c.4360T>A (p.Cys1454Ser) | |
2 | g.86030292C>A | CA427147098 | POLR1A | c.4683G>T (p.Arg1561=) c.4500G>T (p.Arg1500=) c.4359G>T (p.Arg1453=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030292C= | CA1267041316 | POLR1A | c.4683G= (p.Arg1561=) c.4500G= (p.Arg1500=) c.4359G= (p.Arg1453=) | |
2 | g.86030292C>G | CA427147100 | POLR1A | c.4683G>C (p.Arg1561=) c.4500G>C (p.Arg1500=) c.4359G>C (p.Arg1453=) | |
2 | g.86030292C>T | CA427147102 | POLR1A | c.4683G>A (p.Arg1561=) c.4500G>A (p.Arg1500=) c.4359G>A (p.Arg1453=) | |
2 | g.86030293C>A | CA347545446 | POLR1A | c.4682G>T (p.Arg1561Leu) c.4499G>T (p.Arg1500Leu) c.4358G>T (p.Arg1453Leu) | |
2 | g.86030293C= | CA1267041317 | POLR1A | c.4682G= (p.Arg1561=) c.4499G= (p.Arg1500=) c.4358G= (p.Arg1453=) | |
2 | g.86030293C>G | CA347545447 | POLR1A | c.4682G>C (p.Arg1561Pro) c.4499G>C (p.Arg1500Pro) c.4358G>C (p.Arg1453Pro) | |
2 | g.86030293C>T | CA1745426 | POLR1A | c.4682G>A (p.Arg1561Gln) c.4499G>A (p.Arg1500Gln) c.4358G>A (p.Arg1453Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030294G>A | CA1745427 | POLR1A | c.4681C>T (p.Arg1561Trp) c.4498C>T (p.Arg1500Trp) c.4357C>T (p.Arg1453Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.86030294G>C | CA347545448 | POLR1A | c.4681C>G (p.Arg1561Gly) c.4498C>G (p.Arg1500Gly) c.4357C>G (p.Arg1453Gly) | gnomAD v4 |
2 | g.86030294G= | CA1267041318 | POLR1A | c.4681C= (p.Arg1561=) c.4498C= (p.Arg1500=) c.4357C= (p.Arg1453=) | |
2 | g.86030294G>T | CA427147103 | POLR1A | c.4681C>A (p.Arg1561=) c.4498C>A (p.Arg1500=) c.4357C>A (p.Arg1453=) | |
2 | g.86030295A>C | CA427147104 | POLR1A | c.4680T>G (p.Thr1560=) c.4497T>G (p.Thr1499=) c.4356T>G (p.Thr1452=) | |
2 | g.86030295A>G | CA427147106 | POLR1A | c.4680T>C (p.Thr1560=) c.4497T>C (p.Thr1499=) c.4356T>C (p.Thr1452=) | gnomAD v4 |
2 | g.86030295A>T | CA427147109 | POLR1A | c.4680T>A (p.Thr1560=) c.4497T>A (p.Thr1499=) c.4356T>A (p.Thr1452=) | |
2 | g.86030296G>A | CA1745428 | POLR1A | c.4679C>T (p.Thr1560Ile) c.4496C>T (p.Thr1499Ile) c.4355C>T (p.Thr1452Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.86030296G>C | CA347545450 | POLR1A | c.4679C>G (p.Thr1560Ser) c.4496C>G (p.Thr1499Ser) c.4355C>G (p.Thr1452Ser) | |
2 | g.86030296G= | CA1267041319 | POLR1A | c.4679C= (p.Thr1560=) c.4496C= (p.Thr1499=) c.4355C= (p.Thr1452=) | |
2 | g.86030296G>T | CA347545449 | POLR1A | c.4679C>A (p.Thr1560Asn) c.4496C>A (p.Thr1499Asn) c.4355C>A (p.Thr1452Asn) | |
2 | g.86030297T>A | CA347545452 | POLR1A | c.4678A>T (p.Thr1560Ser) c.4495A>T (p.Thr1499Ser) c.4354A>T (p.Thr1452Ser) | |
2 | g.86030297T>C | CA1745429 | POLR1A | c.4678A>G (p.Thr1560Ala) c.4495A>G (p.Thr1499Ala) c.4354A>G (p.Thr1452Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.86030297T>G | CA347545451 | POLR1A | c.4678A>C (p.Thr1560Pro) c.4495A>C (p.Thr1499Pro) c.4354A>C (p.Thr1452Pro) | |
2 | g.86030297T= | CA1267041320 | POLR1A | c.4678A= (p.Thr1560=) c.4495A= (p.Thr1499=) c.4354A= (p.Thr1452=) | |
2 | g.86030298G>A | CA427147114 | POLR1A | c.4677C>T (p.Ile1559=) c.4494C>T (p.Ile1498=) c.4353C>T (p.Ile1451=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.86030298G>C | CA347545453 | POLR1A | c.4677C>G (p.Ile1559Met) c.4494C>G (p.Ile1498Met) c.4353C>G (p.Ile1451Met) | |
2 | g.86030298G= | CA1267041321 | POLR1A | c.4677C= (p.Ile1559=) c.4494C= (p.Ile1498=) c.4353C= (p.Ile1451=) | |
2 | g.86030298G>T | CA427147111 | POLR1A | c.4677C>A (p.Ile1559=) c.4494C>A (p.Ile1498=) c.4353C>A (p.Ile1451=) | |
2 | g.86030299A>C | CA347545454 | POLR1A | c.4676T>G (p.Ile1559Ser) c.4493T>G (p.Ile1498Ser) c.4352T>G (p.Ile1451Ser) | |
2 | g.86030299A>G | CA347545455 | POLR1A | c.4676T>C (p.Ile1559Thr) c.4493T>C (p.Ile1498Thr) c.4352T>C (p.Ile1451Thr) | |
2 | g.86030299A>T | CA347545456 | POLR1A | c.4676T>A (p.Ile1559Asn) c.4493T>A (p.Ile1498Asn) c.4352T>A (p.Ile1451Asn) | |
2 | g.86030300T>A | CA347545457 | POLR1A | c.4675A>T (p.Ile1559Phe) c.4492A>T (p.Ile1498Phe) c.4351A>T (p.Ile1451Phe) | |
2 | g.86030300T>C | CA347545458 | POLR1A | c.4675A>G (p.Ile1559Val) c.4492A>G (p.Ile1498Val) c.4351A>G (p.Ile1451Val) | |
2 | g.86030300T>G | CA347545459 | POLR1A | c.4675A>C (p.Ile1559Leu) c.4492A>C (p.Ile1498Leu) c.4351A>C (p.Ile1451Leu) | |
2 | g.86030301G>A | CA1745430 | POLR1A | c.4674C>T (p.Gly1558=) c.4491C>T (p.Gly1497=) c.4350C>T (p.Gly1450=) | dbSNP ExAC gnomAD v2 |
2 | g.86030301G>C | CA427147115 | POLR1A | c.4674C>G (p.Gly1558=) c.4491C>G (p.Gly1497=) c.4350C>G (p.Gly1450=) | |
2 | g.86030301G= | CA1267041322 | POLR1A | c.4674C= (p.Gly1558=) c.4491C= (p.Gly1497=) c.4350C= (p.Gly1450=) | |
2 | g.86030301G>T | CA427147117 | POLR1A | c.4674C>A (p.Gly1558=) c.4491C>A (p.Gly1497=) c.4350C>A (p.Gly1450=) | |
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) |