| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020560A>C | CA443905003 | NIPBL | c.5112A>C (p.Thr1704=) c.1-44018A>C (n.1-44018A>C) c.4368A>C (p.Thr1456=) c.4914A>C (p.Thr1638=) c.4731A>C (p.Thr1577=) c.4452A>C (p.Thr1484=) c.3495A>C (p.Thr1165=) c.3486A>C (p.Thr1162=) | |
| 5 | g.37020560A>G | CA443905004 | NIPBL | c.5112A>G (p.Thr1704=) c.1-44018A>G (n.1-44018A>G) c.4368A>G (p.Thr1456=) c.4914A>G (p.Thr1638=) c.4731A>G (p.Thr1577=) c.4452A>G (p.Thr1484=) c.3495A>G (p.Thr1165=) c.3486A>G (p.Thr1162=) | |
| 5 | g.37020560A>T | CA443905005 | NIPBL | c.5112A>T (p.Thr1704=) c.1-44018A>T (n.1-44018A>T) c.4368A>T (p.Thr1456=) c.4914A>T (p.Thr1638=) c.4731A>T (p.Thr1577=) c.4452A>T (p.Thr1484=) c.3495A>T (p.Thr1165=) c.3486A>T (p.Thr1162=) | |
| 5 | g.37020561C>A | CA359486823 | NIPBL | c.5113C>A (p.His1705Asn) c.1-44017C>A (n.1-44017C>A) c.4369C>A (p.His1457Asn) c.4915C>A (p.His1639Asn) c.4732C>A (p.His1578Asn) c.4453C>A (p.His1485Asn) c.3496C>A (p.His1166Asn) c.3487C>A (p.His1163Asn) | |
| 5 | g.37020561C= | CA1539619249 | NIPBL | c.5113C= (p.His1705=) c.1-44017C= (n.1-44017C=) c.4369C= (p.His1457=) c.4915C= (p.His1639=) c.4732C= (p.His1578=) c.4453C= (p.His1485=) c.3496C= (p.His1166=) c.3487C= (p.His1163=) | |
| 5 | g.37020561C>G | CA359486830 | NIPBL | c.5113C>G (p.His1705Asp) c.1-44017C>G (n.1-44017C>G) c.4369C>G (p.His1457Asp) c.4915C>G (p.His1639Asp) c.4732C>G (p.His1578Asp) c.4453C>G (p.His1485Asp) c.3496C>G (p.His1166Asp) c.3487C>G (p.His1163Asp) | |
| 5 | g.37020561C>T | CA3236700 | NIPBL | c.5113C>T (p.His1705Tyr) c.1-44017C>T (n.1-44017C>T) c.4369C>T (p.His1457Tyr) c.4915C>T (p.His1639Tyr) c.4732C>T (p.His1578Tyr) c.4453C>T (p.His1485Tyr) c.3496C>T (p.His1166Tyr) c.3487C>T (p.His1163Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020562A= | CA1539619251 | NIPBL | c.5114A= (p.His1705=) c.1-44016A= (n.1-44016A=) c.4370A= (p.His1457=) c.4916A= (p.His1639=) c.4733A= (p.His1578=) c.4454A= (p.His1485=) c.3497A= (p.His1166=) c.3488A= (p.His1163=) | |
| 5 | g.37020562A>C | CA359486836 | NIPBL | c.5114A>C (p.His1705Pro) c.1-44016A>C (n.1-44016A>C) c.4370A>C (p.His1457Pro) c.4916A>C (p.His1639Pro) c.4733A>C (p.His1578Pro) c.4454A>C (p.His1485Pro) c.3497A>C (p.His1166Pro) c.3488A>C (p.His1163Pro) | |
| 5 | g.37020562A>G | CA359486833 | NIPBL | c.5114A>G (p.His1705Arg) c.1-44016A>G (n.1-44016A>G) c.4370A>G (p.His1457Arg) c.4916A>G (p.His1639Arg) c.4733A>G (p.His1578Arg) c.4454A>G (p.His1485Arg) c.3497A>G (p.His1166Arg) c.3488A>G (p.His1163Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020562A>T | CA359486834 | NIPBL | c.5114A>T (p.His1705Leu) c.1-44016A>T (n.1-44016A>T) c.4370A>T (p.His1457Leu) c.4916A>T (p.His1639Leu) c.4733A>T (p.His1578Leu) c.4454A>T (p.His1485Leu) c.3497A>T (p.His1166Leu) c.3488A>T (p.His1163Leu) | gnomAD v4 |
| 5 | g.37020563T>A | CA359486838 | NIPBL | c.5115T>A (p.His1705Gln) c.1-44015T>A (n.1-44015T>A) c.4371T>A (p.His1457Gln) c.4917T>A (p.His1639Gln) c.4734T>A (p.His1578Gln) c.4455T>A (p.His1485Gln) c.3498T>A (p.His1166Gln) c.3489T>A (p.His1163Gln) | |
| 5 | g.37020563T>C | CA443905007 | NIPBL | c.5115T>C (p.His1705=) c.1-44015T>C (n.1-44015T>C) c.4371T>C (p.His1457=) c.4917T>C (p.His1639=) c.4734T>C (p.His1578=) c.4455T>C (p.His1485=) c.3498T>C (p.His1166=) c.3489T>C (p.His1163=) | ClinVar dbSNP |
| 5 | g.37020563T>G | CA359486839 | NIPBL | c.5115T>G (p.His1705Gln) c.1-44015T>G (n.1-44015T>G) c.4371T>G (p.His1457Gln) c.4917T>G (p.His1639Gln) c.4734T>G (p.His1578Gln) c.4455T>G (p.His1485Gln) c.3498T>G (p.His1166Gln) c.3489T>G (p.His1163Gln) | |
| 5 | g.37020564C>A | CA359486841 | NIPBL | c.5116C>A (p.His1706Asn) c.1-44014C>A (n.1-44014C>A) c.4372C>A (p.His1458Asn) c.4918C>A (p.His1640Asn) c.4735C>A (p.His1579Asn) c.4456C>A (p.His1486Asn) c.3499C>A (p.His1167Asn) c.3490C>A (p.His1164Asn) | |
| 5 | g.37020564C= | CA1539619254 | NIPBL | c.5116C= (p.His1706=) c.1-44014C= (n.1-44014C=) c.4372C= (p.His1458=) c.4918C= (p.His1640=) c.4735C= (p.His1579=) c.4456C= (p.His1486=) c.3499C= (p.His1167=) c.3490C= (p.His1164=) | |
| 5 | g.37020564C>G | CA3236701 | NIPBL | c.5116C>G (p.His1706Asp) c.1-44014C>G (n.1-44014C>G) c.4372C>G (p.His1458Asp) c.4918C>G (p.His1640Asp) c.4735C>G (p.His1579Asp) c.4456C>G (p.His1486Asp) c.3499C>G (p.His1167Asp) c.3490C>G (p.His1164Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020564C>T | CA359486843 | NIPBL | c.5116C>T (p.His1706Tyr) c.1-44014C>T (n.1-44014C>T) c.4372C>T (p.His1458Tyr) c.4918C>T (p.His1640Tyr) c.4735C>T (p.His1579Tyr) c.4456C>T (p.His1486Tyr) c.3499C>T (p.His1167Tyr) c.3490C>T (p.His1164Tyr) | |
| 5 | g.37020565A>C | CA359486849 | NIPBL | c.5117A>C (p.His1706Pro) c.1-44013A>C (n.1-44013A>C) c.4373A>C (p.His1458Pro) c.4919A>C (p.His1640Pro) c.4736A>C (p.His1579Pro) c.4457A>C (p.His1486Pro) c.3500A>C (p.His1167Pro) c.3491A>C (p.His1164Pro) | |
| 5 | g.37020565A>G | CA359486848 | NIPBL | c.5117A>G (p.His1706Arg) c.1-44013A>G (n.1-44013A>G) c.4373A>G (p.His1458Arg) c.4919A>G (p.His1640Arg) c.4736A>G (p.His1579Arg) c.4457A>G (p.His1486Arg) c.3500A>G (p.His1167Arg) c.3491A>G (p.His1164Arg) | |
| 5 | g.37020565A>T | CA359486846 | NIPBL | c.5117A>T (p.His1706Leu) c.1-44013A>T (n.1-44013A>T) c.4373A>T (p.His1458Leu) c.4919A>T (p.His1640Leu) c.4736A>T (p.His1579Leu) c.4457A>T (p.His1486Leu) c.3500A>T (p.His1167Leu) c.3491A>T (p.His1164Leu) | gnomAD v4 |
| 5 | g.37020566T>A | CA359486850 | NIPBL | c.5118T>A (p.His1706Gln) c.1-44012T>A (n.1-44012T>A) c.4374T>A (p.His1458Gln) c.4920T>A (p.His1640Gln) c.4737T>A (p.His1579Gln) c.4458T>A (p.His1486Gln) c.3501T>A (p.His1167Gln) c.3492T>A (p.His1164Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020566T>C | CA3236702 | NIPBL | c.5118T>C (p.His1706=) c.1-44012T>C (n.1-44012T>C) c.4374T>C (p.His1458=) c.4920T>C (p.His1640=) c.4737T>C (p.His1579=) c.4458T>C (p.His1486=) c.3501T>C (p.His1167=) c.3492T>C (p.His1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020566T>G | CA359486853 | NIPBL | c.5118T>G (p.His1706Gln) c.1-44012T>G (n.1-44012T>G) c.4374T>G (p.His1458Gln) c.4920T>G (p.His1640Gln) c.4737T>G (p.His1579Gln) c.4458T>G (p.His1486Gln) c.3501T>G (p.His1167Gln) c.3492T>G (p.His1164Gln) | |
| 5 | g.37020566T= | CA1539619257 | NIPBL | c.5118T= (p.His1706=) c.1-44012T= (n.1-44012T=) c.4374T= (p.His1458=) c.4920T= (p.His1640=) c.4737T= (p.His1579=) c.4458T= (p.His1486=) c.3501T= (p.His1167=) c.3492T= (p.His1164=) | |
| 5 | g.37020567G>A | CA359486857 | NIPBL | c.5119G>A (p.Ala1707Thr) c.1-44011G>A (n.1-44011G>A) c.4375G>A (p.Ala1459Thr) c.4921G>A (p.Ala1641Thr) c.4738G>A (p.Ala1580Thr) c.4459G>A (p.Ala1487Thr) c.3502G>A (p.Ala1168Thr) c.3493G>A (p.Ala1165Thr) | |
| 5 | g.37020567G>C | CA359486859 | NIPBL | c.5119G>C (p.Ala1707Pro) c.1-44011G>C (n.1-44011G>C) c.4375G>C (p.Ala1459Pro) c.4921G>C (p.Ala1641Pro) c.4738G>C (p.Ala1580Pro) c.4459G>C (p.Ala1487Pro) c.3502G>C (p.Ala1168Pro) c.3493G>C (p.Ala1165Pro) | |
| 5 | g.37020567G>T | CA359486861 | NIPBL | c.5119G>T (p.Ala1707Ser) c.1-44011G>T (n.1-44011G>T) c.4375G>T (p.Ala1459Ser) c.4921G>T (p.Ala1641Ser) c.4738G>T (p.Ala1580Ser) c.4459G>T (p.Ala1487Ser) c.3502G>T (p.Ala1168Ser) c.3493G>T (p.Ala1165Ser) | |
| 5 | g.37020568C>A | CA359486865 | NIPBL | c.5120C>A (p.Ala1707Glu) c.1-44010C>A (n.1-44010C>A) c.4376C>A (p.Ala1459Glu) c.4922C>A (p.Ala1641Glu) c.4739C>A (p.Ala1580Glu) c.4460C>A (p.Ala1487Glu) c.3503C>A (p.Ala1168Glu) c.3494C>A (p.Ala1165Glu) | |
| 5 | g.37020568C>G | CA359486870 | NIPBL | c.5120C>G (p.Ala1707Gly) c.1-44010C>G (n.1-44010C>G) c.4376C>G (p.Ala1459Gly) c.4922C>G (p.Ala1641Gly) c.4739C>G (p.Ala1580Gly) c.4460C>G (p.Ala1487Gly) c.3503C>G (p.Ala1168Gly) c.3494C>G (p.Ala1165Gly) | |
| 5 | g.37020568C>T | CA359486867 | NIPBL | c.5120C>T (p.Ala1707Val) c.1-44010C>T (n.1-44010C>T) c.4376C>T (p.Ala1459Val) c.4922C>T (p.Ala1641Val) c.4739C>T (p.Ala1580Val) c.4460C>T (p.Ala1487Val) c.3503C>T (p.Ala1168Val) c.3494C>T (p.Ala1165Val) | |
| 5 | g.37020569A>C | CA443905008 | NIPBL | c.5121A>C (p.Ala1707=) c.1-44009A>C (n.1-44009A>C) c.4377A>C (p.Ala1459=) c.4923A>C (p.Ala1641=) c.4740A>C (p.Ala1580=) c.4461A>C (p.Ala1487=) c.3504A>C (p.Ala1168=) c.3495A>C (p.Ala1165=) | |
| 5 | g.37020569A>G | CA443905009 | NIPBL | c.5121A>G (p.Ala1707=) c.1-44009A>G (n.1-44009A>G) c.4377A>G (p.Ala1459=) c.4923A>G (p.Ala1641=) c.4740A>G (p.Ala1580=) c.4461A>G (p.Ala1487=) c.3504A>G (p.Ala1168=) c.3495A>G (p.Ala1165=) | |
| 5 | g.37020569A>T | CA443905010 | NIPBL | c.5121A>T (p.Ala1707=) c.1-44009A>T (n.1-44009A>T) c.4377A>T (p.Ala1459=) c.4923A>T (p.Ala1641=) c.4740A>T (p.Ala1580=) c.4461A>T (p.Ala1487=) c.3504A>T (p.Ala1168=) c.3495A>T (p.Ala1165=) | |
| 5 | g.37020570A>C | CA359486871 | NIPBL | c.5122A>C (p.Lys1708Gln) c.1-44008A>C (n.1-44008A>C) c.4378A>C (p.Lys1460Gln) c.4924A>C (p.Lys1642Gln) c.4741A>C (p.Lys1581Gln) c.4462A>C (p.Lys1488Gln) c.3505A>C (p.Lys1169Gln) c.3496A>C (p.Lys1166Gln) | |
| 5 | g.37020570A>G | CA359486873 | NIPBL | c.5122A>G (p.Lys1708Glu) c.1-44008A>G (n.1-44008A>G) c.4378A>G (p.Lys1460Glu) c.4924A>G (p.Lys1642Glu) c.4741A>G (p.Lys1581Glu) c.4462A>G (p.Lys1488Glu) c.3505A>G (p.Lys1169Glu) c.3496A>G (p.Lys1166Glu) | |
| 5 | g.37020570A>T | CA359486875 | NIPBL | c.5122A>T (p.Lys1708Ter) c.1-44008A>T (n.1-44008A>T) c.4378A>T (p.Lys1460Ter) c.4924A>T (p.Lys1642Ter) c.4741A>T (p.Lys1581Ter) c.4462A>T (p.Lys1488Ter) c.3505A>T (p.Lys1169Ter) c.3496A>T (p.Lys1166Ter) | |
| 5 | g.37020571A>C | CA359486879 | NIPBL | c.5123A>C (p.Lys1708Thr) c.1-44007A>C (n.1-44007A>C) c.4379A>C (p.Lys1460Thr) c.4925A>C (p.Lys1642Thr) c.4742A>C (p.Lys1581Thr) c.4463A>C (p.Lys1488Thr) c.3506A>C (p.Lys1169Thr) c.3497A>C (p.Lys1166Thr) | |
| 5 | g.37020571A>G | CA359486881 | NIPBL | c.5123A>G (p.Lys1708Arg) c.1-44007A>G (n.1-44007A>G) c.4379A>G (p.Lys1460Arg) c.4925A>G (p.Lys1642Arg) c.4742A>G (p.Lys1581Arg) c.4463A>G (p.Lys1488Arg) c.3506A>G (p.Lys1169Arg) c.3497A>G (p.Lys1166Arg) | |
| 5 | g.37020571A>T | CA359486882 | NIPBL | c.5123A>T (p.Lys1708Met) c.1-44007A>T (n.1-44007A>T) c.4379A>T (p.Lys1460Met) c.4925A>T (p.Lys1642Met) c.4742A>T (p.Lys1581Met) c.4463A>T (p.Lys1488Met) c.3506A>T (p.Lys1169Met) c.3497A>T (p.Lys1166Met) | |
| 5 | g.37020572G>A | CA443905011 | NIPBL | c.5124G>A (p.Lys1708=) c.1-44006G>A (n.1-44006G>A) c.4380G>A (p.Lys1460=) c.4926G>A (p.Lys1642=) c.4743G>A (p.Lys1581=) c.4464G>A (p.Lys1488=) c.3507G>A (p.Lys1169=) c.3498G>A (p.Lys1166=) | |
| 5 | g.37020572G>C | CA359486884 | NIPBL | c.5124G>C (p.Lys1708Asn) c.1-44006G>C (n.1-44006G>C) c.4380G>C (p.Lys1460Asn) c.4926G>C (p.Lys1642Asn) c.4743G>C (p.Lys1581Asn) c.4464G>C (p.Lys1488Asn) c.3507G>C (p.Lys1169Asn) c.3498G>C (p.Lys1166Asn) | gnomAD v4 |
| 5 | g.37020572G>T | CA359486887 | NIPBL | c.5124G>T (p.Lys1708Asn) c.1-44006G>T (n.1-44006G>T) c.4380G>T (p.Lys1460Asn) c.4926G>T (p.Lys1642Asn) c.4743G>T (p.Lys1581Asn) c.4464G>T (p.Lys1488Asn) c.3507G>T (p.Lys1169Asn) c.3498G>T (p.Lys1166Asn) | |
| 5 | g.37020573G>A | CA359486889 | NIPBL | c.5125G>A (p.Glu1709Lys) c.1-44005G>A (n.1-44005G>A) c.4381G>A (p.Glu1461Lys) c.4927G>A (p.Glu1643Lys) c.4744G>A (p.Glu1582Lys) c.4465G>A (p.Glu1489Lys) c.3508G>A (p.Glu1170Lys) c.3499G>A (p.Glu1167Lys) | |
| 5 | g.37020573G>C | CA359486891 | NIPBL | c.5125G>C (p.Glu1709Gln) c.1-44005G>C (n.1-44005G>C) c.4381G>C (p.Glu1461Gln) c.4927G>C (p.Glu1643Gln) c.4744G>C (p.Glu1582Gln) c.4465G>C (p.Glu1489Gln) c.3508G>C (p.Glu1170Gln) c.3499G>C (p.Glu1167Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020573G= | CA1539619259 | NIPBL | c.5125G= (p.Glu1709=) c.1-44005G= (n.1-44005G=) c.4381G= (p.Glu1461=) c.4927G= (p.Glu1643=) c.4744G= (p.Glu1582=) c.4465G= (p.Glu1489=) c.3508G= (p.Glu1170=) c.3499G= (p.Glu1167=) | |
| 5 | g.37020573G>T | CA359486895 | NIPBL | c.5125G>T (p.Glu1709Ter) c.1-44005G>T (n.1-44005G>T) c.4381G>T (p.Glu1461Ter) c.4927G>T (p.Glu1643Ter) c.4744G>T (p.Glu1582Ter) c.4465G>T (p.Glu1489Ter) c.3508G>T (p.Glu1170Ter) c.3499G>T (p.Glu1167Ter) | |
| 5 | g.37020574A>C | CA359486897 | NIPBL | c.5126A>C (p.Glu1709Ala) c.1-44004A>C (n.1-44004A>C) c.4382A>C (p.Glu1461Ala) c.4928A>C (p.Glu1643Ala) c.4745A>C (p.Glu1582Ala) c.4466A>C (p.Glu1489Ala) c.3509A>C (p.Glu1170Ala) c.3500A>C (p.Glu1167Ala) | ClinVar |
| 5 | g.37020574A>G | CA359486901 | NIPBL | c.5126A>G (p.Glu1709Gly) c.1-44004A>G (n.1-44004A>G) c.4382A>G (p.Glu1461Gly) c.4928A>G (p.Glu1643Gly) c.4745A>G (p.Glu1582Gly) c.4466A>G (p.Glu1489Gly) c.3509A>G (p.Glu1170Gly) c.3500A>G (p.Glu1167Gly) | |
| 5 | g.37020574A>T | CA359486900 | NIPBL | c.5126A>T (p.Glu1709Val) c.1-44004A>T (n.1-44004A>T) c.4382A>T (p.Glu1461Val) c.4928A>T (p.Glu1643Val) c.4745A>T (p.Glu1582Val) c.4466A>T (p.Glu1489Val) c.3509A>T (p.Glu1170Val) c.3500A>T (p.Glu1167Val) | |
| 5 | g.37020575A= | CA1539619260 | NIPBL | c.5127A= (p.Glu1709=) c.1-44003A= (n.1-44003A=) c.4383A= (p.Glu1461=) c.4929A= (p.Glu1643=) c.4746A= (p.Glu1582=) c.4467A= (p.Glu1489=) c.3510A= (p.Glu1170=) c.3501A= (p.Glu1167=) | |
| 5 | g.37020575A>C | CA359486904 | NIPBL | c.5127A>C (p.Glu1709Asp) c.1-44003A>C (n.1-44003A>C) c.4383A>C (p.Glu1461Asp) c.4929A>C (p.Glu1643Asp) c.4746A>C (p.Glu1582Asp) c.4467A>C (p.Glu1489Asp) c.3510A>C (p.Glu1170Asp) c.3501A>C (p.Glu1167Asp) | |
| 5 | g.37020575A>G | CA443905012 | NIPBL | c.5127A>G (p.Glu1709=) c.1-44003A>G (n.1-44003A>G) c.4383A>G (p.Glu1461=) c.4929A>G (p.Glu1643=) c.4746A>G (p.Glu1582=) c.4467A>G (p.Glu1489=) c.3510A>G (p.Glu1170=) c.3501A>G (p.Glu1167=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020575A>T | CA359486907 | NIPBL | c.5127A>T (p.Glu1709Asp) c.1-44003A>T (n.1-44003A>T) c.4383A>T (p.Glu1461Asp) c.4929A>T (p.Glu1643Asp) c.4746A>T (p.Glu1582Asp) c.4467A>T (p.Glu1489Asp) c.3510A>T (p.Glu1170Asp) c.3501A>T (p.Glu1167Asp) | |
| 5 | g.37020576A= | CA1539619261 | NIPBL | c.5128A= (p.Ile1710=) c.1-44002A= (n.1-44002A=) c.4384A= (p.Ile1462=) c.4930A= (p.Ile1644=) c.4747A= (p.Ile1583=) c.4468A= (p.Ile1490=) c.3511A= (p.Ile1171=) c.3502A= (p.Ile1168=) | |
| 5 | g.37020576A>C | CA359486912 | NIPBL | c.5128A>C (p.Ile1710Leu) c.1-44002A>C (n.1-44002A>C) c.4384A>C (p.Ile1462Leu) c.4930A>C (p.Ile1644Leu) c.4747A>C (p.Ile1583Leu) c.4468A>C (p.Ile1490Leu) c.3511A>C (p.Ile1171Leu) c.3502A>C (p.Ile1168Leu) | |
| 5 | g.37020576A>G | CA359486916 | NIPBL | c.5128A>G (p.Ile1710Val) c.1-44002A>G (n.1-44002A>G) c.4384A>G (p.Ile1462Val) c.4930A>G (p.Ile1644Val) c.4747A>G (p.Ile1583Val) c.4468A>G (p.Ile1490Val) c.3511A>G (p.Ile1171Val) c.3502A>G (p.Ile1168Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020576A>T | CA359486913 | NIPBL | c.5128A>T (p.Ile1710Phe) c.1-44002A>T (n.1-44002A>T) c.4384A>T (p.Ile1462Phe) c.4930A>T (p.Ile1644Phe) c.4747A>T (p.Ile1583Phe) c.4468A>T (p.Ile1490Phe) c.3511A>T (p.Ile1171Phe) c.3502A>T (p.Ile1168Phe) | |
| 5 | g.37020577T>A | CA359486919 | NIPBL | c.5129T>A (p.Ile1710Asn) c.1-44001T>A (n.1-44001T>A) c.4385T>A (p.Ile1462Asn) c.4931T>A (p.Ile1644Asn) c.4748T>A (p.Ile1583Asn) c.4469T>A (p.Ile1490Asn) c.3512T>A (p.Ile1171Asn) c.3503T>A (p.Ile1168Asn) | |
| 5 | g.37020577T>C | CA359486921 | NIPBL | c.5129T>C (p.Ile1710Thr) c.1-44001T>C (n.1-44001T>C) c.4385T>C (p.Ile1462Thr) c.4931T>C (p.Ile1644Thr) c.4748T>C (p.Ile1583Thr) c.4469T>C (p.Ile1490Thr) c.3512T>C (p.Ile1171Thr) c.3503T>C (p.Ile1168Thr) | |
| 5 | g.37020577T>G | CA359486923 | NIPBL | c.5129T>G (p.Ile1710Ser) c.1-44001T>G (n.1-44001T>G) c.4385T>G (p.Ile1462Ser) c.4931T>G (p.Ile1644Ser) c.4748T>G (p.Ile1583Ser) c.4469T>G (p.Ile1490Ser) c.3512T>G (p.Ile1171Ser) c.3503T>G (p.Ile1168Ser) | |
| 5 | g.37020578T>A | CA443905013 | NIPBL | c.5130T>A (p.Ile1710=) c.1-44000T>A (n.1-44000T>A) c.4386T>A (p.Ile1462=) c.4932T>A (p.Ile1644=) c.4749T>A (p.Ile1583=) c.4470T>A (p.Ile1490=) c.3513T>A (p.Ile1171=) c.3504T>A (p.Ile1168=) | |
| 5 | g.37020578T>C | CA443905014 | NIPBL | c.5130T>C (p.Ile1710=) c.1-44000T>C (n.1-44000T>C) c.4386T>C (p.Ile1462=) c.4932T>C (p.Ile1644=) c.4749T>C (p.Ile1583=) c.4470T>C (p.Ile1490=) c.3513T>C (p.Ile1171=) c.3504T>C (p.Ile1168=) | |
| 5 | g.37020578T>G | CA359486926 | NIPBL | c.5130T>G (p.Ile1710Met) c.1-44000T>G (n.1-44000T>G) c.4386T>G (p.Ile1462Met) c.4932T>G (p.Ile1644Met) c.4749T>G (p.Ile1583Met) c.4470T>G (p.Ile1490Met) c.3513T>G (p.Ile1171Met) c.3504T>G (p.Ile1168Met) | |
| 5 | g.37020579G>A | CA359486929 | NIPBL | c.5131G>A (p.Glu1711Lys) c.1-43999G>A (n.1-43999G>A) c.4387G>A (p.Glu1463Lys) c.4933G>A (p.Glu1645Lys) c.4750G>A (p.Glu1584Lys) c.4471G>A (p.Glu1491Lys) c.3514G>A (p.Glu1172Lys) c.3505G>A (p.Glu1169Lys) | |
| 5 | g.37020579G>C | CA359486932 | NIPBL | c.5131G>C (p.Glu1711Gln) c.1-43999G>C (n.1-43999G>C) c.4387G>C (p.Glu1463Gln) c.4933G>C (p.Glu1645Gln) c.4750G>C (p.Glu1584Gln) c.4471G>C (p.Glu1491Gln) c.3514G>C (p.Glu1172Gln) c.3505G>C (p.Glu1169Gln) | |
| 5 | g.37020579G>T | CA359486933 | NIPBL | c.5131G>T (p.Glu1711Ter) c.1-43999G>T (n.1-43999G>T) c.4387G>T (p.Glu1463Ter) c.4933G>T (p.Glu1645Ter) c.4750G>T (p.Glu1584Ter) c.4471G>T (p.Glu1491Ter) c.3514G>T (p.Glu1172Ter) c.3505G>T (p.Glu1169Ter) | |
| 5 | g.37020580A>C | CA359486936 | NIPBL | c.5132A>C (p.Glu1711Ala) c.1-43998A>C (n.1-43998A>C) c.4388A>C (p.Glu1463Ala) c.4934A>C (p.Glu1645Ala) c.4751A>C (p.Glu1584Ala) c.4472A>C (p.Glu1491Ala) c.3515A>C (p.Glu1172Ala) c.3506A>C (p.Glu1169Ala) | |
| 5 | g.37020580A>G | CA359486939 | NIPBL | c.5132A>G (p.Glu1711Gly) c.1-43998A>G (n.1-43998A>G) c.4388A>G (p.Glu1463Gly) c.4934A>G (p.Glu1645Gly) c.4751A>G (p.Glu1584Gly) c.4472A>G (p.Glu1491Gly) c.3515A>G (p.Glu1172Gly) c.3506A>G (p.Glu1169Gly) | |
| 5 | g.37020580A>T | CA359486940 | NIPBL | c.5132A>T (p.Glu1711Val) c.1-43998A>T (n.1-43998A>T) c.4388A>T (p.Glu1463Val) c.4934A>T (p.Glu1645Val) c.4751A>T (p.Glu1584Val) c.4472A>T (p.Glu1491Val) c.3515A>T (p.Glu1172Val) c.3506A>T (p.Glu1169Val) | |
| 5 | g.37020581G>A | CA443905015 | NIPBL | c.5133G>A (p.Glu1711=) c.1-43997G>A (n.1-43997G>A) c.4389G>A (p.Glu1463=) c.4935G>A (p.Glu1645=) c.4752G>A (p.Glu1584=) c.4473G>A (p.Glu1491=) c.3516G>A (p.Glu1172=) c.3507G>A (p.Glu1169=) | |
| 5 | g.37020581G>C | CA359486943 | NIPBL | c.5133G>C (p.Glu1711Asp) c.1-43997G>C (n.1-43997G>C) c.4389G>C (p.Glu1463Asp) c.4935G>C (p.Glu1645Asp) c.4752G>C (p.Glu1584Asp) c.4473G>C (p.Glu1491Asp) c.3516G>C (p.Glu1172Asp) c.3507G>C (p.Glu1169Asp) | |
| 5 | g.37020581G>T | CA359486946 | NIPBL | c.5133G>T (p.Glu1711Asp) c.1-43997G>T (n.1-43997G>T) c.4389G>T (p.Glu1463Asp) c.4935G>T (p.Glu1645Asp) c.4752G>T (p.Glu1584Asp) c.4473G>T (p.Glu1491Asp) c.3516G>T (p.Glu1172Asp) c.3507G>T (p.Glu1169Asp) | |
| 5 | g.37020582A>C | CA359486949 | NIPBL | c.5134A>C (p.Thr1712Pro) c.1-43996A>C (n.1-43996A>C) c.4390A>C (p.Thr1464Pro) c.4936A>C (p.Thr1646Pro) c.4753A>C (p.Thr1585Pro) c.4474A>C (p.Thr1492Pro) c.3517A>C (p.Thr1173Pro) c.3508A>C (p.Thr1170Pro) | |
| 5 | g.37020582A>G | CA359486955 | NIPBL | c.5134A>G (p.Thr1712Ala) c.1-43996A>G (n.1-43996A>G) c.4390A>G (p.Thr1464Ala) c.4936A>G (p.Thr1646Ala) c.4753A>G (p.Thr1585Ala) c.4474A>G (p.Thr1492Ala) c.3517A>G (p.Thr1173Ala) c.3508A>G (p.Thr1170Ala) | |
| 5 | g.37020582A>T | CA359486952 | NIPBL | c.5134A>T (p.Thr1712Ser) c.1-43996A>T (n.1-43996A>T) c.4390A>T (p.Thr1464Ser) c.4936A>T (p.Thr1646Ser) c.4753A>T (p.Thr1585Ser) c.4474A>T (p.Thr1492Ser) c.3517A>T (p.Thr1173Ser) c.3508A>T (p.Thr1170Ser) | |
| 5 | g.37020583C>A | CA359486957 | NIPBL | c.5135C>A (p.Thr1712Lys) c.1-43995C>A (n.1-43995C>A) c.4391C>A (p.Thr1464Lys) c.4937C>A (p.Thr1646Lys) c.4754C>A (p.Thr1585Lys) c.4475C>A (p.Thr1492Lys) c.3518C>A (p.Thr1173Lys) c.3509C>A (p.Thr1170Lys) | gnomAD v4 |
| 5 | g.37020583C>G | CA359486959 | NIPBL | c.5135C>G (p.Thr1712Arg) c.1-43995C>G (n.1-43995C>G) c.4391C>G (p.Thr1464Arg) c.4937C>G (p.Thr1646Arg) c.4754C>G (p.Thr1585Arg) c.4475C>G (p.Thr1492Arg) c.3518C>G (p.Thr1173Arg) c.3509C>G (p.Thr1170Arg) | |
| 5 | g.37020583C>T | CA359486962 | NIPBL | c.5135C>T (p.Thr1712Ile) c.1-43995C>T (n.1-43995C>T) c.4391C>T (p.Thr1464Ile) c.4937C>T (p.Thr1646Ile) c.4754C>T (p.Thr1585Ile) c.4475C>T (p.Thr1492Ile) c.3518C>T (p.Thr1173Ile) c.3509C>T (p.Thr1170Ile) | gnomAD v4 |
| 5 | g.37020584A>C | CA443905016 | NIPBL | c.5136A>C (p.Thr1712=) c.1-43994A>C (n.1-43994A>C) c.4392A>C (p.Thr1464=) c.4938A>C (p.Thr1646=) c.4755A>C (p.Thr1585=) c.4476A>C (p.Thr1492=) c.3519A>C (p.Thr1173=) c.3510A>C (p.Thr1170=) | |
| 5 | g.37020584A>G | CA443905017 | NIPBL | c.5136A>G (p.Thr1712=) c.1-43994A>G (n.1-43994A>G) c.4392A>G (p.Thr1464=) c.4938A>G (p.Thr1646=) c.4755A>G (p.Thr1585=) c.4476A>G (p.Thr1492=) c.3519A>G (p.Thr1173=) c.3510A>G (p.Thr1170=) | |
| 5 | g.37020584A>T | CA443905018 | NIPBL | c.5136A>T (p.Thr1712=) c.1-43994A>T (n.1-43994A>T) c.4392A>T (p.Thr1464=) c.4938A>T (p.Thr1646=) c.4755A>T (p.Thr1585=) c.4476A>T (p.Thr1492=) c.3519A>T (p.Thr1173=) c.3510A>T (p.Thr1170=) | |
| 5 | g.37020585A= | CA1539619262 | NIPBL | c.5137A= (p.Thr1713=) c.1-43993A= (n.1-43993A=) c.4393A= (p.Thr1465=) c.4939A= (p.Thr1647=) c.4756A= (p.Thr1586=) c.4477A= (p.Thr1493=) c.3520A= (p.Thr1174=) c.3511A= (p.Thr1171=) | |
| 5 | g.37020585A>C | CA359486967 | NIPBL | c.5137A>C (p.Thr1713Pro) c.1-43993A>C (n.1-43993A>C) c.4393A>C (p.Thr1465Pro) c.4939A>C (p.Thr1647Pro) c.4756A>C (p.Thr1586Pro) c.4477A>C (p.Thr1493Pro) c.3520A>C (p.Thr1174Pro) c.3511A>C (p.Thr1171Pro) | |
| 5 | g.37020585A>G | CA3236703 | NIPBL | c.5137A>G (p.Thr1713Ala) c.1-43993A>G (n.1-43993A>G) c.4393A>G (p.Thr1465Ala) c.4939A>G (p.Thr1647Ala) c.4756A>G (p.Thr1586Ala) c.4477A>G (p.Thr1493Ala) c.3520A>G (p.Thr1174Ala) c.3511A>G (p.Thr1171Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020585A>T | CA359486971 | NIPBL | c.5137A>T (p.Thr1713Ser) c.1-43993A>T (n.1-43993A>T) c.4393A>T (p.Thr1465Ser) c.4939A>T (p.Thr1647Ser) c.4756A>T (p.Thr1586Ser) c.4477A>T (p.Thr1493Ser) c.3520A>T (p.Thr1174Ser) c.3511A>T (p.Thr1171Ser) | gnomAD v4 |
| 5 | g.37020586C>A | CA359486973 | NIPBL | c.5138C>A (p.Thr1713Asn) c.1-43992C>A (n.1-43992C>A) c.4394C>A (p.Thr1465Asn) c.4940C>A (p.Thr1647Asn) c.4757C>A (p.Thr1586Asn) c.4478C>A (p.Thr1493Asn) c.3521C>A (p.Thr1174Asn) c.3512C>A (p.Thr1171Asn) | |
| 5 | g.37020586C>G | CA359486975 | NIPBL | c.5138C>G (p.Thr1713Ser) c.1-43992C>G (n.1-43992C>G) c.4394C>G (p.Thr1465Ser) c.4940C>G (p.Thr1647Ser) c.4757C>G (p.Thr1586Ser) c.4478C>G (p.Thr1493Ser) c.3521C>G (p.Thr1174Ser) c.3512C>G (p.Thr1171Ser) | |
| 5 | g.37020586C>T | CA359486978 | NIPBL | c.5138C>T (p.Thr1713Ile) c.1-43992C>T (n.1-43992C>T) c.4394C>T (p.Thr1465Ile) c.4940C>T (p.Thr1647Ile) c.4757C>T (p.Thr1586Ile) c.4478C>T (p.Thr1493Ile) c.3521C>T (p.Thr1174Ile) c.3512C>T (p.Thr1171Ile) | gnomAD v4 |
| 5 | g.37020587T>A | CA443905019 | NIPBL | c.5139T>A (p.Thr1713=) c.1-43991T>A (n.1-43991T>A) c.4395T>A (p.Thr1465=) c.4941T>A (p.Thr1647=) c.4758T>A (p.Thr1586=) c.4479T>A (p.Thr1493=) c.3522T>A (p.Thr1174=) c.3513T>A (p.Thr1171=) | |
| 5 | g.37020587T>C | CA443905021 | NIPBL | c.5139T>C (p.Thr1713=) c.1-43991T>C (n.1-43991T>C) c.4395T>C (p.Thr1465=) c.4941T>C (p.Thr1647=) c.4758T>C (p.Thr1586=) c.4479T>C (p.Thr1493=) c.3522T>C (p.Thr1174=) c.3513T>C (p.Thr1171=) | |
| 5 | g.37020587T>G | CA443905020 | NIPBL | c.5139T>G (p.Thr1713=) c.1-43991T>G (n.1-43991T>G) c.4395T>G (p.Thr1465=) c.4941T>G (p.Thr1647=) c.4758T>G (p.Thr1586=) c.4479T>G (p.Thr1493=) c.3522T>G (p.Thr1174=) c.3513T>G (p.Thr1171=) | |
| 5 | g.37020588G>A | CA359486982 | NIPBL | c.5140G>A (p.Gly1714Ser) c.1-43990G>A (n.1-43990G>A) c.4396G>A (p.Gly1466Ser) c.4942G>A (p.Gly1648Ser) c.4759G>A (p.Gly1587Ser) c.4480G>A (p.Gly1494Ser) c.3523G>A (p.Gly1175Ser) c.3514G>A (p.Gly1172Ser) | gnomAD v4 |
| 5 | g.37020588G>C | CA359486984 | NIPBL | c.5140G>C (p.Gly1714Arg) c.1-43990G>C (n.1-43990G>C) c.4396G>C (p.Gly1466Arg) c.4942G>C (p.Gly1648Arg) c.4759G>C (p.Gly1587Arg) c.4480G>C (p.Gly1494Arg) c.3523G>C (p.Gly1175Arg) c.3514G>C (p.Gly1172Arg) | |
| 5 | g.37020588G>T | CA359486980 | NIPBL | c.5140G>T (p.Gly1714Cys) c.1-43990G>T (n.1-43990G>T) c.4396G>T (p.Gly1466Cys) c.4942G>T (p.Gly1648Cys) c.4759G>T (p.Gly1587Cys) c.4480G>T (p.Gly1494Cys) c.3523G>T (p.Gly1175Cys) c.3514G>T (p.Gly1172Cys) | |
| 5 | g.37020589G>A | CA359486986 | NIPBL | c.5141G>A (p.Gly1714Asp) c.1-43989G>A (n.1-43989G>A) c.4397G>A (p.Gly1466Asp) c.4943G>A (p.Gly1648Asp) c.4760G>A (p.Gly1587Asp) c.4481G>A (p.Gly1494Asp) c.3524G>A (p.Gly1175Asp) c.3515G>A (p.Gly1172Asp) | |
| 5 | g.37020589G>C | CA359486989 | NIPBL | c.5141G>C (p.Gly1714Ala) c.1-43989G>C (n.1-43989G>C) c.4397G>C (p.Gly1466Ala) c.4943G>C (p.Gly1648Ala) c.4760G>C (p.Gly1587Ala) c.4481G>C (p.Gly1494Ala) c.3524G>C (p.Gly1175Ala) c.3515G>C (p.Gly1172Ala) | |
| 5 | g.37020589G>T | CA359486990 | NIPBL | c.5141G>T (p.Gly1714Val) c.1-43989G>T (n.1-43989G>T) c.4397G>T (p.Gly1466Val) c.4943G>T (p.Gly1648Val) c.4760G>T (p.Gly1587Val) c.4481G>T (p.Gly1494Val) c.3524G>T (p.Gly1175Val) c.3515G>T (p.Gly1172Val) | |
| 5 | g.37020590C>A | CA443905022 | NIPBL | c.5142C>A (p.Gly1714=) c.1-43988C>A (n.1-43988C>A) c.4398C>A (p.Gly1466=) c.4944C>A (p.Gly1648=) c.4761C>A (p.Gly1587=) c.4482C>A (p.Gly1494=) c.3525C>A (p.Gly1175=) c.3516C>A (p.Gly1172=) | |
| 5 | g.37020590C>G | CA443905023 | NIPBL | c.5142C>G (p.Gly1714=) c.1-43988C>G (n.1-43988C>G) c.4398C>G (p.Gly1466=) c.4944C>G (p.Gly1648=) c.4761C>G (p.Gly1587=) c.4482C>G (p.Gly1494=) c.3525C>G (p.Gly1175=) c.3516C>G (p.Gly1172=) | |
| 5 | g.37020590C>T | CA443905024 | NIPBL | c.5142C>T (p.Gly1714=) c.1-43988C>T (n.1-43988C>T) c.4398C>T (p.Gly1466=) c.4944C>T (p.Gly1648=) c.4761C>T (p.Gly1587=) c.4482C>T (p.Gly1494=) c.3525C>T (p.Gly1175=) c.3516C>T (p.Gly1172=) | |
| 5 | g.37020591C>A | CA359486994 | NIPBL | c.5143C>A (p.Gln1715Lys) c.1-43987C>A (n.1-43987C>A) c.4399C>A (p.Gln1467Lys) c.4945C>A (p.Gln1649Lys) c.4762C>A (p.Gln1588Lys) c.4483C>A (p.Gln1495Lys) c.3526C>A (p.Gln1176Lys) c.3517C>A (p.Gln1173Lys) | |
| 5 | g.37020591C>G | CA359486999 | NIPBL | c.5143C>G (p.Gln1715Glu) c.1-43987C>G (n.1-43987C>G) c.4399C>G (p.Gln1467Glu) c.4945C>G (p.Gln1649Glu) c.4762C>G (p.Gln1588Glu) c.4483C>G (p.Gln1495Glu) c.3526C>G (p.Gln1176Glu) c.3517C>G (p.Gln1173Glu) | gnomAD v4 |
| 5 | g.37020591C>T | CA359487001 | NIPBL | c.5143C>T (p.Gln1715Ter) c.1-43987C>T (n.1-43987C>T) c.4399C>T (p.Gln1467Ter) c.4945C>T (p.Gln1649Ter) c.4762C>T (p.Gln1588Ter) c.4483C>T (p.Gln1495Ter) c.3526C>T (p.Gln1176Ter) c.3517C>T (p.Gln1173Ter) | |
| 5 | g.37020592A>C | CA359487003 | NIPBL | c.5144A>C (p.Gln1715Pro) c.1-43986A>C (n.1-43986A>C) c.4400A>C (p.Gln1467Pro) c.4946A>C (p.Gln1649Pro) c.4763A>C (p.Gln1588Pro) c.4484A>C (p.Gln1495Pro) c.3527A>C (p.Gln1176Pro) c.3518A>C (p.Gln1173Pro) | |
| 5 | g.37020592A>G | CA359487006 | NIPBL | c.5144A>G (p.Gln1715Arg) c.1-43986A>G (n.1-43986A>G) c.4400A>G (p.Gln1467Arg) c.4946A>G (p.Gln1649Arg) c.4763A>G (p.Gln1588Arg) c.4484A>G (p.Gln1495Arg) c.3527A>G (p.Gln1176Arg) c.3518A>G (p.Gln1173Arg) | |
| 5 | g.37020592A>T | CA359487011 | NIPBL | c.5144A>T (p.Gln1715Leu) c.1-43986A>T (n.1-43986A>T) c.4400A>T (p.Gln1467Leu) c.4946A>T (p.Gln1649Leu) c.4763A>T (p.Gln1588Leu) c.4484A>T (p.Gln1495Leu) c.3527A>T (p.Gln1176Leu) c.3518A>T (p.Gln1173Leu) | |
| 5 | g.37020593A>C | CA359487014 | NIPBL | c.5145A>C (p.Gln1715His) c.1-43985A>C (n.1-43985A>C) c.4401A>C (p.Gln1467His) c.4947A>C (p.Gln1649His) c.4764A>C (p.Gln1588His) c.4485A>C (p.Gln1495His) c.3528A>C (p.Gln1176His) c.3519A>C (p.Gln1173His) | |
| 5 | g.37020593A>G | CA443905046 | NIPBL | c.5145A>G (p.Gln1715=) c.1-43985A>G (n.1-43985A>G) c.4401A>G (p.Gln1467=) c.4947A>G (p.Gln1649=) c.4764A>G (p.Gln1588=) c.4485A>G (p.Gln1495=) c.3528A>G (p.Gln1176=) c.3519A>G (p.Gln1173=) | |
| 5 | g.37020593A>T | CA359487017 | NIPBL | c.5145A>T (p.Gln1715His) c.1-43985A>T (n.1-43985A>T) c.4401A>T (p.Gln1467His) c.4947A>T (p.Gln1649His) c.4764A>T (p.Gln1588His) c.4485A>T (p.Gln1495His) c.3528A>T (p.Gln1176His) c.3519A>T (p.Gln1173His) | |
| 5 | g.37020594A= | CA1539619263 | NIPBL | c.5146A= (p.Ile1716=) c.1-43984A= (n.1-43984A=) c.4402A= (p.Ile1468=) c.4948A= (p.Ile1650=) c.4765A= (p.Ile1589=) c.4486A= (p.Ile1496=) c.3529A= (p.Ile1177=) c.3520A= (p.Ile1174=) | |
| 5 | g.37020594A>C | CA359487022 | NIPBL | c.5146A>C (p.Ile1716Leu) c.1-43984A>C (n.1-43984A>C) c.4402A>C (p.Ile1468Leu) c.4948A>C (p.Ile1650Leu) c.4765A>C (p.Ile1589Leu) c.4486A>C (p.Ile1496Leu) c.3529A>C (p.Ile1177Leu) c.3520A>C (p.Ile1174Leu) | |
| 5 | g.37020594A>G | CA359487023 | NIPBL | c.5146A>G (p.Ile1716Val) c.1-43984A>G (n.1-43984A>G) c.4402A>G (p.Ile1468Val) c.4948A>G (p.Ile1650Val) c.4765A>G (p.Ile1589Val) c.4486A>G (p.Ile1496Val) c.3529A>G (p.Ile1177Val) c.3520A>G (p.Ile1174Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020594A>T | CA359487019 | NIPBL | c.5146A>T (p.Ile1716Phe) c.1-43984A>T (n.1-43984A>T) c.4402A>T (p.Ile1468Phe) c.4948A>T (p.Ile1650Phe) c.4765A>T (p.Ile1589Phe) c.4486A>T (p.Ile1496Phe) c.3529A>T (p.Ile1177Phe) c.3520A>T (p.Ile1174Phe) | |
| 5 | g.37020595T>A | CA359487025 | NIPBL | c.5147T>A (p.Ile1716Asn) c.1-43983T>A (n.1-43983T>A) c.4403T>A (p.Ile1468Asn) c.4949T>A (p.Ile1650Asn) c.4766T>A (p.Ile1589Asn) c.4487T>A (p.Ile1496Asn) c.3530T>A (p.Ile1177Asn) c.3521T>A (p.Ile1174Asn) | |
| 5 | g.37020595T>C | CA359487027 | NIPBL | c.5147T>C (p.Ile1716Thr) c.1-43983T>C (n.1-43983T>C) c.4403T>C (p.Ile1468Thr) c.4949T>C (p.Ile1650Thr) c.4766T>C (p.Ile1589Thr) c.4487T>C (p.Ile1496Thr) c.3530T>C (p.Ile1177Thr) c.3521T>C (p.Ile1174Thr) | |
| 5 | g.37020595T>G | CA359487028 | NIPBL | c.5147T>G (p.Ile1716Ser) c.1-43983T>G (n.1-43983T>G) c.4403T>G (p.Ile1468Ser) c.4949T>G (p.Ile1650Ser) c.4766T>G (p.Ile1589Ser) c.4487T>G (p.Ile1496Ser) c.3530T>G (p.Ile1177Ser) c.3521T>G (p.Ile1174Ser) | |
| 5 | g.37020596T>A | CA443905049 | NIPBL | c.5148T>A (p.Ile1716=) c.1-43982T>A (n.1-43982T>A) c.4404T>A (p.Ile1468=) c.4950T>A (p.Ile1650=) c.4767T>A (p.Ile1589=) c.4488T>A (p.Ile1496=) c.3531T>A (p.Ile1177=) c.3522T>A (p.Ile1174=) | |
| 5 | g.37020596T>C | CA443905048 | NIPBL | c.5148T>C (p.Ile1716=) c.1-43982T>C (n.1-43982T>C) c.4404T>C (p.Ile1468=) c.4950T>C (p.Ile1650=) c.4767T>C (p.Ile1589=) c.4488T>C (p.Ile1496=) c.3531T>C (p.Ile1177=) c.3522T>C (p.Ile1174=) | |
| 5 | g.37020596T>G | CA359487030 | NIPBL | c.5148T>G (p.Ile1716Met) c.1-43982T>G (n.1-43982T>G) c.4404T>G (p.Ile1468Met) c.4950T>G (p.Ile1650Met) c.4767T>G (p.Ile1589Met) c.4488T>G (p.Ile1496Met) c.3531T>G (p.Ile1177Met) c.3522T>G (p.Ile1174Met) | |
| 5 | g.37020597_37020602del | CA2673553327 | NIPBL | c.5149_5154del (p.Met1717_His1718del) c.1-43981_1-43976del (n.1-43981_1-43976del) c.4405_4410del (p.Met1469_His1470del) c.4951_4956del (p.Met1651_His1652del) c.4768_4773del (p.Met1590_His1591del) c.4489_4494del (p.Met1497_His1498del) c.3532_3537del (p.Met1178_His1179del) c.3523_3528del (p.Met1175_His1176del) | gnomAD v4 |
| 5 | g.37020597A>C | CA359487046 | NIPBL | c.5149A>C (p.Met1717Leu) c.1-43981A>C (n.1-43981A>C) c.4405A>C (p.Met1469Leu) c.4951A>C (p.Met1651Leu) c.4768A>C (p.Met1590Leu) c.4489A>C (p.Met1497Leu) c.3532A>C (p.Met1178Leu) c.3523A>C (p.Met1175Leu) | gnomAD v4 |
| 5 | g.37020597A>G | CA359487040 | NIPBL | c.5149A>G (p.Met1717Val) c.1-43981A>G (n.1-43981A>G) c.4405A>G (p.Met1469Val) c.4951A>G (p.Met1651Val) c.4768A>G (p.Met1590Val) c.4489A>G (p.Met1497Val) c.3532A>G (p.Met1178Val) c.3523A>G (p.Met1175Val) | |
| 5 | g.37020597A>T | CA359487037 | NIPBL | c.5149A>T (p.Met1717Leu) c.1-43981A>T (n.1-43981A>T) c.4405A>T (p.Met1469Leu) c.4951A>T (p.Met1651Leu) c.4768A>T (p.Met1590Leu) c.4489A>T (p.Met1497Leu) c.3532A>T (p.Met1178Leu) c.3523A>T (p.Met1175Leu) | |
| 5 | g.37020598T>A | CA359487050 | NIPBL | c.5150T>A (p.Met1717Lys) c.1-43980T>A (n.1-43980T>A) c.4406T>A (p.Met1469Lys) c.4952T>A (p.Met1651Lys) c.4769T>A (p.Met1590Lys) c.4490T>A (p.Met1497Lys) c.3533T>A (p.Met1178Lys) c.3524T>A (p.Met1175Lys) | |
| 5 | g.37020598T>C | CA359487051 | NIPBL | c.5150T>C (p.Met1717Thr) c.1-43980T>C (n.1-43980T>C) c.4406T>C (p.Met1469Thr) c.4952T>C (p.Met1651Thr) c.4769T>C (p.Met1590Thr) c.4490T>C (p.Met1497Thr) c.3533T>C (p.Met1178Thr) c.3524T>C (p.Met1175Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020598T>G | CA359487053 | NIPBL | c.5150T>G (p.Met1717Arg) c.1-43980T>G (n.1-43980T>G) c.4406T>G (p.Met1469Arg) c.4952T>G (p.Met1651Arg) c.4769T>G (p.Met1590Arg) c.4490T>G (p.Met1497Arg) c.3533T>G (p.Met1178Arg) c.3524T>G (p.Met1175Arg) | |
| 5 | g.37020598T= | CA1539619264 | NIPBL | c.5150T= (p.Met1717=) c.1-43980T= (n.1-43980T=) c.4406T= (p.Met1469=) c.4952T= (p.Met1651=) c.4769T= (p.Met1590=) c.4490T= (p.Met1497=) c.3533T= (p.Met1178=) c.3524T= (p.Met1175=) | |
| 5 | g.37020599G>A | CA359487057 | NIPBL | c.5151G>A (p.Met1717Ile) c.1-43979G>A (n.1-43979G>A) c.4407G>A (p.Met1469Ile) c.4953G>A (p.Met1651Ile) c.4770G>A (p.Met1590Ile) c.4491G>A (p.Met1497Ile) c.3534G>A (p.Met1178Ile) c.3525G>A (p.Met1175Ile) | |
| 5 | g.37020599G>C | CA359487060 | NIPBL | c.5151G>C (p.Met1717Ile) c.1-43979G>C (n.1-43979G>C) c.4407G>C (p.Met1469Ile) c.4953G>C (p.Met1651Ile) c.4770G>C (p.Met1590Ile) c.4491G>C (p.Met1497Ile) c.3534G>C (p.Met1178Ile) c.3525G>C (p.Met1175Ile) | |
| 5 | g.37020599G>T | CA359487064 | NIPBL | c.5151G>T (p.Met1717Ile) c.1-43979G>T (n.1-43979G>T) c.4407G>T (p.Met1469Ile) c.4953G>T (p.Met1651Ile) c.4770G>T (p.Met1590Ile) c.4491G>T (p.Met1497Ile) c.3534G>T (p.Met1178Ile) c.3525G>T (p.Met1175Ile) | |
| 5 | g.37020600C>A | CA359487073 | NIPBL | c.5152C>A (p.His1718Asn) c.1-43978C>A (n.1-43978C>A) c.4408C>A (p.His1470Asn) c.4954C>A (p.His1652Asn) c.4771C>A (p.His1591Asn) c.4492C>A (p.His1498Asn) c.3535C>A (p.His1179Asn) c.3526C>A (p.His1176Asn) | |
| 5 | g.37020600C>G | CA359487072 | NIPBL | c.5152C>G (p.His1718Asp) c.1-43978C>G (n.1-43978C>G) c.4408C>G (p.His1470Asp) c.4954C>G (p.His1652Asp) c.4771C>G (p.His1591Asp) c.4492C>G (p.His1498Asp) c.3535C>G (p.His1179Asp) c.3526C>G (p.His1176Asp) | |
| 5 | g.37020600C>T | CA359487069 | NIPBL | c.5152C>T (p.His1718Tyr) c.1-43978C>T (n.1-43978C>T) c.4408C>T (p.His1470Tyr) c.4954C>T (p.His1652Tyr) c.4771C>T (p.His1591Tyr) c.4492C>T (p.His1498Tyr) c.3535C>T (p.His1179Tyr) c.3526C>T (p.His1176Tyr) | COSMIC COSMIC |
| 5 | g.37020601A= | CA1539619265 | NIPBL | c.5153A= (p.His1718=) c.1-43977A= (n.1-43977A=) c.4409A= (p.His1470=) c.4955A= (p.His1652=) c.4772A= (p.His1591=) c.4493A= (p.His1498=) c.3536A= (p.His1179=) c.3527A= (p.His1176=) | |
| 5 | g.37020601A>C | CA359487077 | NIPBL | c.5153A>C (p.His1718Pro) c.1-43977A>C (n.1-43977A>C) c.4409A>C (p.His1470Pro) c.4955A>C (p.His1652Pro) c.4772A>C (p.His1591Pro) c.4493A>C (p.His1498Pro) c.3536A>C (p.His1179Pro) c.3527A>C (p.His1176Pro) | |
| 5 | g.37020601A>G | CA3236704 | NIPBL | c.5153A>G (p.His1718Arg) c.1-43977A>G (n.1-43977A>G) c.4409A>G (p.His1470Arg) c.4955A>G (p.His1652Arg) c.4772A>G (p.His1591Arg) c.4493A>G (p.His1498Arg) c.3536A>G (p.His1179Arg) c.3527A>G (p.His1176Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020601A>T | CA359487081 | NIPBL | c.5153A>T (p.His1718Leu) c.1-43977A>T (n.1-43977A>T) c.4409A>T (p.His1470Leu) c.4955A>T (p.His1652Leu) c.4772A>T (p.His1591Leu) c.4493A>T (p.His1498Leu) c.3536A>T (p.His1179Leu) c.3527A>T (p.His1176Leu) | gnomAD v4 |
| 5 | g.37020602T>A | CA359487087 | NIPBL | c.5154T>A (p.His1718Gln) c.1-43976T>A (n.1-43976T>A) c.4410T>A (p.His1470Gln) c.4956T>A (p.His1652Gln) c.4773T>A (p.His1591Gln) c.4494T>A (p.His1498Gln) c.3537T>A (p.His1179Gln) c.3528T>A (p.His1176Gln) | |
| 5 | g.37020602T>C | CA443905055 | NIPBL | c.5154T>C (p.His1718=) c.1-43976T>C (n.1-43976T>C) c.4410T>C (p.His1470=) c.4956T>C (p.His1652=) c.4773T>C (p.His1591=) c.4494T>C (p.His1498=) c.3537T>C (p.His1179=) c.3528T>C (p.His1176=) | |
| 5 | g.37020602T>G | CA359487090 | NIPBL | c.5154T>G (p.His1718Gln) c.1-43976T>G (n.1-43976T>G) c.4410T>G (p.His1470Gln) c.4956T>G (p.His1652Gln) c.4773T>G (p.His1591Gln) c.4494T>G (p.His1498Gln) c.3537T>G (p.His1179Gln) c.3528T>G (p.His1176Gln) | |
| 5 | g.37020603C>A | CA443905056 | NIPBL | c.5155C>A (p.Arg1719=) c.1-43975C>A (n.1-43975C>A) c.4411C>A (p.Arg1471=) c.4957C>A (p.Arg1653=) c.4774C>A (p.Arg1592=) c.4495C>A (p.Arg1499=) c.3538C>A (p.Arg1180=) c.3529C>A (p.Arg1177=) | |
| 5 | g.37020603C>G | CA359487093 | NIPBL | c.5155C>G (p.Arg1719Gly) c.1-43975C>G (n.1-43975C>G) c.4411C>G (p.Arg1471Gly) c.4957C>G (p.Arg1653Gly) c.4774C>G (p.Arg1592Gly) c.4495C>G (p.Arg1499Gly) c.3538C>G (p.Arg1180Gly) c.3529C>G (p.Arg1177Gly) | |
| 5 | g.37020603C>T | CA359487097 | NIPBL | c.5155C>T (p.Arg1719Ter) c.1-43975C>T (n.1-43975C>T) c.4411C>T (p.Arg1471Ter) c.4957C>T (p.Arg1653Ter) c.4774C>T (p.Arg1592Ter) c.4495C>T (p.Arg1499Ter) c.3538C>T (p.Arg1180Ter) c.3529C>T (p.Arg1177Ter) | |
| 5 | g.37020604G>A | CA359487099 | NIPBL | c.5156G>A (p.Arg1719Gln) c.1-43974G>A (n.1-43974G>A) c.4412G>A (p.Arg1471Gln) c.4958G>A (p.Arg1653Gln) c.4775G>A (p.Arg1592Gln) c.4496G>A (p.Arg1499Gln) c.3539G>A (p.Arg1180Gln) c.3530G>A (p.Arg1177Gln) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.37020604G>C | CA359487111 | NIPBL | c.5156G>C (p.Arg1719Pro) c.1-43974G>C (n.1-43974G>C) c.4412G>C (p.Arg1471Pro) c.4958G>C (p.Arg1653Pro) c.4775G>C (p.Arg1592Pro) c.4496G>C (p.Arg1499Pro) c.3539G>C (p.Arg1180Pro) c.3530G>C (p.Arg1177Pro) | |
| 5 | g.37020604G= | CA1539619266 | NIPBL | c.5156G= (p.Arg1719=) c.1-43974G= (n.1-43974G=) c.4412G= (p.Arg1471=) c.4958G= (p.Arg1653=) c.4775G= (p.Arg1592=) c.4496G= (p.Arg1499=) c.3539G= (p.Arg1180=) c.3530G= (p.Arg1177=) | |
| 5 | g.37020604G>T | CA359487118 | NIPBL | c.5156G>T (p.Arg1719Leu) c.1-43974G>T (n.1-43974G>T) c.4412G>T (p.Arg1471Leu) c.4958G>T (p.Arg1653Leu) c.4775G>T (p.Arg1592Leu) c.4496G>T (p.Arg1499Leu) c.3539G>T (p.Arg1180Leu) c.3530G>T (p.Arg1177Leu) | |
| 5 | g.37020605A>C | CA443905058 | NIPBL | c.5157A>C (p.Arg1719=) c.1-43973A>C (n.1-43973A>C) c.4413A>C (p.Arg1471=) c.4959A>C (p.Arg1653=) c.4776A>C (p.Arg1592=) c.4497A>C (p.Arg1499=) c.3540A>C (p.Arg1180=) c.3531A>C (p.Arg1177=) | |
| 5 | g.37020605A>G | CA443905059 | NIPBL | c.5157A>G (p.Arg1719=) c.1-43973A>G (n.1-43973A>G) c.4413A>G (p.Arg1471=) c.4959A>G (p.Arg1653=) c.4776A>G (p.Arg1592=) c.4497A>G (p.Arg1499=) c.3540A>G (p.Arg1180=) c.3531A>G (p.Arg1177=) | |
| 5 | g.37020605A>T | CA443905060 | NIPBL | c.5157A>T (p.Arg1719=) c.1-43973A>T (n.1-43973A>T) c.4413A>T (p.Arg1471=) c.4959A>T (p.Arg1653=) c.4776A>T (p.Arg1592=) c.4497A>T (p.Arg1499=) c.3540A>T (p.Arg1180=) c.3531A>T (p.Arg1177=) | |
| 5 | g.37020606G>A | CA3236705 | NIPBL | c.5158G>A (p.Ala1720Thr) c.1-43972G>A (n.1-43972G>A) c.4414G>A (p.Ala1472Thr) c.4960G>A (p.Ala1654Thr) c.4777G>A (p.Ala1593Thr) c.4498G>A (p.Ala1500Thr) c.3541G>A (p.Ala1181Thr) c.3532G>A (p.Ala1178Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020606G>C | CA359487123 | NIPBL | c.5158G>C (p.Ala1720Pro) c.1-43972G>C (n.1-43972G>C) c.4414G>C (p.Ala1472Pro) c.4960G>C (p.Ala1654Pro) c.4777G>C (p.Ala1593Pro) c.4498G>C (p.Ala1500Pro) c.3541G>C (p.Ala1181Pro) c.3532G>C (p.Ala1178Pro) | |
| 5 | g.37020606G= | CA1539619267 | NIPBL | c.5158G= (p.Ala1720=) c.1-43972G= (n.1-43972G=) c.4414G= (p.Ala1472=) c.4960G= (p.Ala1654=) c.4777G= (p.Ala1593=) c.4498G= (p.Ala1500=) c.3541G= (p.Ala1181=) c.3532G= (p.Ala1178=) | |
| 5 | g.37020606G>T | CA359487127 | NIPBL | c.5158G>T (p.Ala1720Ser) c.1-43972G>T (n.1-43972G>T) c.4414G>T (p.Ala1472Ser) c.4960G>T (p.Ala1654Ser) c.4777G>T (p.Ala1593Ser) c.4498G>T (p.Ala1500Ser) c.3541G>T (p.Ala1181Ser) c.3532G>T (p.Ala1178Ser) | gnomAD v4 |
| 5 | g.37020607C>A | CA359487150 | NIPBL | c.5159C>A (p.Ala1720Asp) c.1-43971C>A (n.1-43971C>A) c.4415C>A (p.Ala1472Asp) c.4961C>A (p.Ala1654Asp) c.4778C>A (p.Ala1593Asp) c.4499C>A (p.Ala1500Asp) c.3542C>A (p.Ala1181Asp) c.3533C>A (p.Ala1178Asp) | |
| 5 | g.37020607C>G | CA359487146 | NIPBL | c.5159C>G (p.Ala1720Gly) c.1-43971C>G (n.1-43971C>G) c.4415C>G (p.Ala1472Gly) c.4961C>G (p.Ala1654Gly) c.4778C>G (p.Ala1593Gly) c.4499C>G (p.Ala1500Gly) c.3542C>G (p.Ala1181Gly) c.3533C>G (p.Ala1178Gly) | |
| 5 | g.37020607C>T | CA359487143 | NIPBL | c.5159C>T (p.Ala1720Val) c.1-43971C>T (n.1-43971C>T) c.4415C>T (p.Ala1472Val) c.4961C>T (p.Ala1654Val) c.4778C>T (p.Ala1593Val) c.4499C>T (p.Ala1500Val) c.3542C>T (p.Ala1181Val) c.3533C>T (p.Ala1178Val) | |
| 5 | g.37020608T>A | CA443905064 | NIPBL | c.5160T>A (p.Ala1720=) c.1-43970T>A (n.1-43970T>A) c.4416T>A (p.Ala1472=) c.4962T>A (p.Ala1654=) c.4779T>A (p.Ala1593=) c.4500T>A (p.Ala1500=) c.3543T>A (p.Ala1181=) c.3534T>A (p.Ala1178=) | |
| 5 | g.37020608T>C | CA443905065 | NIPBL | c.5160T>C (p.Ala1720=) c.1-43970T>C (n.1-43970T>C) c.4416T>C (p.Ala1472=) c.4962T>C (p.Ala1654=) c.4779T>C (p.Ala1593=) c.4500T>C (p.Ala1500=) c.3543T>C (p.Ala1181=) c.3534T>C (p.Ala1178=) | |
| 5 | g.37020608T>G | CA443905066 | NIPBL | c.5160T>G (p.Ala1720=) c.1-43970T>G (n.1-43970T>G) c.4416T>G (p.Ala1472=) c.4962T>G (p.Ala1654=) c.4779T>G (p.Ala1593=) c.4500T>G (p.Ala1500=) c.3543T>G (p.Ala1181=) c.3534T>G (p.Ala1178=) | |
| 5 | g.37020609G>A | CA359487153 | NIPBL | c.5161G>A (p.Glu1721Lys) c.1-43969G>A (n.1-43969G>A) c.4417G>A (p.Glu1473Lys) c.4963G>A (p.Glu1655Lys) c.4780G>A (p.Glu1594Lys) c.4501G>A (p.Glu1501Lys) c.3544G>A (p.Glu1182Lys) c.3535G>A (p.Glu1179Lys) | |
| 5 | g.37020609G>C | CA359487155 | NIPBL | c.5161G>C (p.Glu1721Gln) c.1-43969G>C (n.1-43969G>C) c.4417G>C (p.Glu1473Gln) c.4963G>C (p.Glu1655Gln) c.4780G>C (p.Glu1594Gln) c.4501G>C (p.Glu1501Gln) c.3544G>C (p.Glu1182Gln) c.3535G>C (p.Glu1179Gln) | |
| 5 | g.37020609G>T | CA359487156 | NIPBL | c.5161G>T (p.Glu1721Ter) c.1-43969G>T (n.1-43969G>T) c.4417G>T (p.Glu1473Ter) c.4963G>T (p.Glu1655Ter) c.4780G>T (p.Glu1594Ter) c.4501G>T (p.Glu1501Ter) c.3544G>T (p.Glu1182Ter) c.3535G>T (p.Glu1179Ter) | |
| 5 | g.37020610A>C | CA359487158 | NIPBL | c.5162A>C (p.Glu1721Ala) c.1-43968A>C (n.1-43968A>C) c.4418A>C (p.Glu1473Ala) c.4964A>C (p.Glu1655Ala) c.4781A>C (p.Glu1594Ala) c.4502A>C (p.Glu1501Ala) c.3545A>C (p.Glu1182Ala) c.3536A>C (p.Glu1179Ala) | |
| 5 | g.37020610A>G | CA359487161 | NIPBL | c.5162A>G (p.Glu1721Gly) c.1-43968A>G (n.1-43968A>G) c.4418A>G (p.Glu1473Gly) c.4964A>G (p.Glu1655Gly) c.4781A>G (p.Glu1594Gly) c.4502A>G (p.Glu1501Gly) c.3545A>G (p.Glu1182Gly) c.3536A>G (p.Glu1179Gly) | |
| 5 | g.37020610A>T | CA359487165 | NIPBL | c.5162A>T (p.Glu1721Val) c.1-43968A>T (n.1-43968A>T) c.4418A>T (p.Glu1473Val) c.4964A>T (p.Glu1655Val) c.4781A>T (p.Glu1594Val) c.4502A>T (p.Glu1501Val) c.3545A>T (p.Glu1182Val) c.3536A>T (p.Glu1179Val) | |
| 5 | g.37020611A>C | CA359487170 | NIPBL | c.5163A>C (p.Glu1721Asp) c.1-43967A>C (n.1-43967A>C) c.4419A>C (p.Glu1473Asp) c.4965A>C (p.Glu1655Asp) c.4782A>C (p.Glu1594Asp) c.4503A>C (p.Glu1501Asp) c.3546A>C (p.Glu1182Asp) c.3537A>C (p.Glu1179Asp) | gnomAD v4 |
| 5 | g.37020611A>G | CA443905068 | NIPBL | c.5163A>G (p.Glu1721=) c.1-43967A>G (n.1-43967A>G) c.4419A>G (p.Glu1473=) c.4965A>G (p.Glu1655=) c.4782A>G (p.Glu1594=) c.4503A>G (p.Glu1501=) c.3546A>G (p.Glu1182=) c.3537A>G (p.Glu1179=) | |
| 5 | g.37020611A>T | CA359487171 | NIPBL | c.5163A>T (p.Glu1721Asp) c.1-43967A>T (n.1-43967A>T) c.4419A>T (p.Glu1473Asp) c.4965A>T (p.Glu1655Asp) c.4782A>T (p.Glu1594Asp) c.4503A>T (p.Glu1501Asp) c.3546A>T (p.Glu1182Asp) c.3537A>T (p.Glu1179Asp) | |
| 5 | g.37020612A>C | CA359487174 | NIPBL | c.5164A>C (p.Asn1722His) c.1-43966A>C (n.1-43966A>C) c.4420A>C (p.Asn1474His) c.4966A>C (p.Asn1656His) c.4783A>C (p.Asn1595His) c.4504A>C (p.Asn1502His) c.3547A>C (p.Asn1183His) c.3538A>C (p.Asn1180His) | gnomAD v4 |
| 5 | g.37020612A>G | CA359487176 | NIPBL | c.5164A>G (p.Asn1722Asp) c.1-43966A>G (n.1-43966A>G) c.4420A>G (p.Asn1474Asp) c.4966A>G (p.Asn1656Asp) c.4783A>G (p.Asn1595Asp) c.4504A>G (p.Asn1502Asp) c.3547A>G (p.Asn1183Asp) c.3538A>G (p.Asn1180Asp) | COSMIC COSMIC |
| 5 | g.37020612A>T | CA359487179 | NIPBL | c.5164A>T (p.Asn1722Tyr) c.1-43966A>T (n.1-43966A>T) c.4420A>T (p.Asn1474Tyr) c.4966A>T (p.Asn1656Tyr) c.4783A>T (p.Asn1595Tyr) c.4504A>T (p.Asn1502Tyr) c.3547A>T (p.Asn1183Tyr) c.3538A>T (p.Asn1180Tyr) | |
| 5 | g.37020613A>C | CA359487186 | NIPBL | c.5165A>C (p.Asn1722Thr) c.1-43965A>C (n.1-43965A>C) c.4421A>C (p.Asn1474Thr) c.4967A>C (p.Asn1656Thr) c.4784A>C (p.Asn1595Thr) c.4505A>C (p.Asn1502Thr) c.3548A>C (p.Asn1183Thr) c.3539A>C (p.Asn1180Thr) | |
| 5 | g.37020613A>G | CA359487187 | NIPBL | c.5165A>G (p.Asn1722Ser) c.1-43965A>G (n.1-43965A>G) c.4421A>G (p.Asn1474Ser) c.4967A>G (p.Asn1656Ser) c.4784A>G (p.Asn1595Ser) c.4505A>G (p.Asn1502Ser) c.3548A>G (p.Asn1183Ser) c.3539A>G (p.Asn1180Ser) | |
| 5 | g.37020613A>T | CA359487183 | NIPBL | c.5165A>T (p.Asn1722Ile) c.1-43965A>T (n.1-43965A>T) c.4421A>T (p.Asn1474Ile) c.4967A>T (p.Asn1656Ile) c.4784A>T (p.Asn1595Ile) c.4505A>T (p.Asn1502Ile) c.3548A>T (p.Asn1183Ile) c.3539A>T (p.Asn1180Ile) | |
| 5 | g.37020614C>A | CA359487188 | NIPBL | c.5166C>A (p.Asn1722Lys) c.1-43964C>A (n.1-43964C>A) c.4422C>A (p.Asn1474Lys) c.4968C>A (p.Asn1656Lys) c.4785C>A (p.Asn1595Lys) c.4506C>A (p.Asn1502Lys) c.3549C>A (p.Asn1183Lys) c.3540C>A (p.Asn1180Lys) | |
| 5 | g.37020614C>G | CA359487189 | NIPBL | c.5166C>G (p.Asn1722Lys) c.1-43964C>G (n.1-43964C>G) c.4422C>G (p.Asn1474Lys) c.4968C>G (p.Asn1656Lys) c.4785C>G (p.Asn1595Lys) c.4506C>G (p.Asn1502Lys) c.3549C>G (p.Asn1183Lys) c.3540C>G (p.Asn1180Lys) | |
| 5 | g.37020614C>T | CA443905072 | NIPBL | c.5166C>T (p.Asn1722=) c.1-43964C>T (n.1-43964C>T) c.4422C>T (p.Asn1474=) c.4968C>T (p.Asn1656=) c.4785C>T (p.Asn1595=) c.4506C>T (p.Asn1502=) c.3549C>T (p.Asn1183=) c.3540C>T (p.Asn1180=) | |
| 5 | g.37020615C>A | CA443905073 | NIPBL | c.5167C>A (p.Arg1723=) c.1-43963C>A (n.1-43963C>A) c.4423C>A (p.Arg1475=) c.4969C>A (p.Arg1657=) c.4786C>A (p.Arg1596=) c.4507C>A (p.Arg1503=) c.3550C>A (p.Arg1184=) c.3541C>A (p.Arg1181=) | |
| 5 | g.37020615C= | CA1539619268 | NIPBL | c.5167C= (p.Arg1723=) c.1-43963C= (n.1-43963C=) c.4423C= (p.Arg1475=) c.4969C= (p.Arg1657=) c.4786C= (p.Arg1596=) c.4507C= (p.Arg1503=) c.3550C= (p.Arg1184=) c.3541C= (p.Arg1181=) | |
| 5 | g.37020615C>G | CA359487190 | NIPBL | c.5167C>G (p.Arg1723Gly) c.1-43963C>G (n.1-43963C>G) c.4423C>G (p.Arg1475Gly) c.4969C>G (p.Arg1657Gly) c.4786C>G (p.Arg1596Gly) c.4507C>G (p.Arg1503Gly) c.3550C>G (p.Arg1184Gly) c.3541C>G (p.Arg1181Gly) | |
| 5 | g.37020615C>T | CA252120 | NIPBL | c.5167C>T (p.Arg1723Ter) c.1-43963C>T (n.1-43963C>T) c.4423C>T (p.Arg1475Ter) c.4969C>T (p.Arg1657Ter) c.4786C>T (p.Arg1596Ter) c.4507C>T (p.Arg1503Ter) c.3550C>T (p.Arg1184Ter) c.3541C>T (p.Arg1181Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37020616G>A | CA10620336 | NIPBL | c.5168G>A (p.Arg1723Gln) c.1-43962G>A (n.1-43962G>A) c.4424G>A (p.Arg1475Gln) c.4970G>A (p.Arg1657Gln) c.4787G>A (p.Arg1596Gln) c.4508G>A (p.Arg1503Gln) c.3551G>A (p.Arg1184Gln) c.3542G>A (p.Arg1181Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37020616G>C | CA359487193 | NIPBL | c.5168G>C (p.Arg1723Pro) c.1-43962G>C (n.1-43962G>C) c.4424G>C (p.Arg1475Pro) c.4970G>C (p.Arg1657Pro) c.4787G>C (p.Arg1596Pro) c.4508G>C (p.Arg1503Pro) c.3551G>C (p.Arg1184Pro) c.3542G>C (p.Arg1181Pro) | |
| 5 | g.37020616G= | CA1539619270 | NIPBL | c.5168G= (p.Arg1723=) c.1-43962G= (n.1-43962G=) c.4424G= (p.Arg1475=) c.4970G= (p.Arg1657=) c.4787G= (p.Arg1596=) c.4508G= (p.Arg1503=) c.3551G= (p.Arg1184=) c.3542G= (p.Arg1181=) | |
| 5 | g.37020616G>T | CA359487195 | NIPBL | c.5168G>T (p.Arg1723Leu) c.1-43962G>T (n.1-43962G>T) c.4424G>T (p.Arg1475Leu) c.4970G>T (p.Arg1657Leu) c.4787G>T (p.Arg1596Leu) c.4508G>T (p.Arg1503Leu) c.3551G>T (p.Arg1184Leu) c.3542G>T (p.Arg1181Leu) | |
| 5 | g.37020616_37020617delinsGA | CA1539619269 | NIPBL | c.5168_5169delinsGA (p.Arg1723=) c.1-43962_1-43961delinsGA (n.1-43962_1-43961delinsGA) c.4424_4425delinsGA (p.Arg1475=) c.4970_4971delinsGA (p.Arg1657=) c.4787_4788delinsGA (p.Arg1596=) c.4508_4509delinsGA (p.Arg1503=) c.3551_3552delinsGA (p.Arg1184=) c.3542_3543delinsGA (p.Arg1181=) | |
| 5 | g.37020617A>C | CA443905078 | NIPBL | c.5169A>C (p.Arg1723=) c.1-43961A>C (n.1-43961A>C) c.4425A>C (p.Arg1475=) c.4971A>C (p.Arg1657=) c.4788A>C (p.Arg1596=) c.4509A>C (p.Arg1503=) c.3552A>C (p.Arg1184=) c.3543A>C (p.Arg1181=) | |
| 5 | g.37020617A>G | CA443905077 | NIPBL | c.5169A>G (p.Arg1723=) c.1-43961A>G (n.1-43961A>G) c.4425A>G (p.Arg1475=) c.4971A>G (p.Arg1657=) c.4788A>G (p.Arg1596=) c.4509A>G (p.Arg1503=) c.3552A>G (p.Arg1184=) c.3543A>G (p.Arg1181=) | |
| 5 | g.37020617A>T | CA443905075 | NIPBL | c.5169A>T (p.Arg1723=) c.1-43961A>T (n.1-43961A>T) c.4425A>T (p.Arg1475=) c.4971A>T (p.Arg1657=) c.4788A>T (p.Arg1596=) c.4509A>T (p.Arg1503=) c.3552A>T (p.Arg1184=) c.3543A>T (p.Arg1181=) | |
| 5 | g.37020622del | CA272132 | NIPBL | c.5174del (p.Lys1725SerfsTer17) c.1-43956del (n.1-43956del) c.4430del (p.Lys1477SerfsTer17) c.4976del (p.Lys1659SerfsTer17) c.4793del (p.Lys1598SerfsTer17) c.4514del (p.Lys1505SerfsTer17) c.3557del (p.Lys1186SerfsTer17) c.3548del (p.Lys1183SerfsTer17) | ClinVar dbSNP |
| 5 | g.37020618A= | CA1539583959 | NIPBL | c.5170A= (p.Lys1724=) c.1-43960A= (n.1-43960A=) c.4426A= (p.Lys1476=) c.4972A= (p.Lys1658=) c.4789A= (p.Lys1597=) c.4510A= (p.Lys1504=) c.3553A= (p.Lys1185=) c.3544A= (p.Lys1182=) | |
| 5 | g.37020618A>C | CA359487202 | NIPBL | c.5170A>C (p.Lys1724Gln) c.1-43960A>C (n.1-43960A>C) c.4426A>C (p.Lys1476Gln) c.4972A>C (p.Lys1658Gln) c.4789A>C (p.Lys1597Gln) c.4510A>C (p.Lys1504Gln) c.3553A>C (p.Lys1185Gln) c.3544A>C (p.Lys1182Gln) | |
| 5 | g.37020618A>G | CA359487205 | NIPBL | c.5170A>G (p.Lys1724Glu) c.1-43960A>G (n.1-43960A>G) c.4426A>G (p.Lys1476Glu) c.4972A>G (p.Lys1658Glu) c.4789A>G (p.Lys1597Glu) c.4510A>G (p.Lys1504Glu) c.3553A>G (p.Lys1185Glu) c.3544A>G (p.Lys1182Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020618A>T | CA359487210 | NIPBL | c.5170A>T (p.Lys1724Ter) c.1-43960A>T (n.1-43960A>T) c.4426A>T (p.Lys1476Ter) c.4972A>T (p.Lys1658Ter) c.4789A>T (p.Lys1597Ter) c.4510A>T (p.Lys1504Ter) c.3553A>T (p.Lys1185Ter) c.3544A>T (p.Lys1182Ter) | |
| 5 | g.37020619A>C | CA359487216 | NIPBL | c.5171A>C (p.Lys1724Thr) c.1-43959A>C (n.1-43959A>C) c.4427A>C (p.Lys1476Thr) c.4973A>C (p.Lys1658Thr) c.4790A>C (p.Lys1597Thr) c.4511A>C (p.Lys1504Thr) c.3554A>C (p.Lys1185Thr) c.3545A>C (p.Lys1182Thr) | gnomAD v4 |
| 5 | g.37020619A>G | CA359487226 | NIPBL | c.5171A>G (p.Lys1724Arg) c.1-43959A>G (n.1-43959A>G) c.4427A>G (p.Lys1476Arg) c.4973A>G (p.Lys1658Arg) c.4790A>G (p.Lys1597Arg) c.4511A>G (p.Lys1504Arg) c.3554A>G (p.Lys1185Arg) c.3545A>G (p.Lys1182Arg) | |
| 5 | g.37020619A>T | CA359487229 | NIPBL | c.5171A>T (p.Lys1724Ile) c.1-43959A>T (n.1-43959A>T) c.4427A>T (p.Lys1476Ile) c.4973A>T (p.Lys1658Ile) c.4790A>T (p.Lys1597Ile) c.4511A>T (p.Lys1504Ile) c.3554A>T (p.Lys1185Ile) c.3545A>T (p.Lys1182Ile) | |
| 5 | g.37020620A>C | CA359487238 | NIPBL | c.5172A>C (p.Lys1724Asn) c.1-43958A>C (n.1-43958A>C) c.4428A>C (p.Lys1476Asn) c.4974A>C (p.Lys1658Asn) c.4791A>C (p.Lys1597Asn) c.4512A>C (p.Lys1504Asn) c.3555A>C (p.Lys1185Asn) c.3546A>C (p.Lys1182Asn) | |
| 5 | g.37020620A>G | CA443905081 | NIPBL | c.5172A>G (p.Lys1724=) c.1-43958A>G (n.1-43958A>G) c.4428A>G (p.Lys1476=) c.4974A>G (p.Lys1658=) c.4791A>G (p.Lys1597=) c.4512A>G (p.Lys1504=) c.3555A>G (p.Lys1185=) c.3546A>G (p.Lys1182=) | |
| 5 | g.37020620A>T | CA359487234 | NIPBL | c.5172A>T (p.Lys1724Asn) c.1-43958A>T (n.1-43958A>T) c.4428A>T (p.Lys1476Asn) c.4974A>T (p.Lys1658Asn) c.4791A>T (p.Lys1597Asn) c.4512A>T (p.Lys1504Asn) c.3555A>T (p.Lys1185Asn) c.3546A>T (p.Lys1182Asn) | |
| 5 | g.37020621A>C | CA359487253 | NIPBL | c.5173A>C (p.Lys1725Gln) c.1-43957A>C (n.1-43957A>C) c.4429A>C (p.Lys1477Gln) c.4975A>C (p.Lys1659Gln) c.4792A>C (p.Lys1598Gln) c.4513A>C (p.Lys1505Gln) c.3556A>C (p.Lys1186Gln) c.3547A>C (p.Lys1183Gln) | |
| 5 | g.37020621A>G | CA359487255 | NIPBL | c.5173A>G (p.Lys1725Glu) c.1-43957A>G (n.1-43957A>G) c.4429A>G (p.Lys1477Glu) c.4975A>G (p.Lys1659Glu) c.4792A>G (p.Lys1598Glu) c.4513A>G (p.Lys1505Glu) c.3556A>G (p.Lys1186Glu) c.3547A>G (p.Lys1183Glu) | |
| 5 | g.37020621A>T | CA359487258 | NIPBL | c.5173A>T (p.Lys1725Ter) c.1-43957A>T (n.1-43957A>T) c.4429A>T (p.Lys1477Ter) c.4975A>T (p.Lys1659Ter) c.4792A>T (p.Lys1598Ter) c.4513A>T (p.Lys1505Ter) c.3556A>T (p.Lys1186Ter) c.3547A>T (p.Lys1183Ter) | |
| 5 | g.37020622A>C | CA359487260 | NIPBL | c.5174A>C (p.Lys1725Thr) c.1-43956A>C (n.1-43956A>C) c.4430A>C (p.Lys1477Thr) c.4976A>C (p.Lys1659Thr) c.4793A>C (p.Lys1598Thr) c.4514A>C (p.Lys1505Thr) c.3557A>C (p.Lys1186Thr) c.3548A>C (p.Lys1183Thr) | |
| 5 | g.37020622A>G | CA359487261 | NIPBL | c.5174A>G (p.Lys1725Arg) c.1-43956A>G (n.1-43956A>G) c.4430A>G (p.Lys1477Arg) c.4976A>G (p.Lys1659Arg) c.4793A>G (p.Lys1598Arg) c.4514A>G (p.Lys1505Arg) c.3557A>G (p.Lys1186Arg) c.3548A>G (p.Lys1183Arg) | |
| 5 | g.37020622A>T | CA359487262 | NIPBL | c.5174A>T (p.Lys1725Met) c.1-43956A>T (n.1-43956A>T) c.4430A>T (p.Lys1477Met) c.4976A>T (p.Lys1659Met) c.4793A>T (p.Lys1598Met) c.4514A>T (p.Lys1505Met) c.3557A>T (p.Lys1186Met) c.3548A>T (p.Lys1183Met) | |
| 5 | g.37020623G>A | CA3236706 | NIPBL | c.5175G>A (p.Lys1725=) c.1-43955G>A (n.1-43955G>A) c.4431G>A (p.Lys1477=) c.4977G>A (p.Lys1659=) c.4794G>A (p.Lys1598=) c.4515G>A (p.Lys1505=) c.3558G>A (p.Lys1186=) c.3549G>A (p.Lys1183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020623G>C | CA359487263 | NIPBL | c.5175G>C (p.Lys1725Asn) c.1-43955G>C (n.1-43955G>C) c.4431G>C (p.Lys1477Asn) c.4977G>C (p.Lys1659Asn) c.4794G>C (p.Lys1598Asn) c.4515G>C (p.Lys1505Asn) c.3558G>C (p.Lys1186Asn) c.3549G>C (p.Lys1183Asn) | |
| 5 | g.37020623G= | CA1539583986 | NIPBL | c.5175G= (p.Lys1725=) c.1-43955G= (n.1-43955G=) c.4431G= (p.Lys1477=) c.4977G= (p.Lys1659=) c.4794G= (p.Lys1598=) c.4515G= (p.Lys1505=) c.3558G= (p.Lys1186=) c.3549G= (p.Lys1183=) | |
| 5 | g.37020623G>T | CA359487264 | NIPBL | c.5175G>T (p.Lys1725Asn) c.1-43955G>T (n.1-43955G>T) c.4431G>T (p.Lys1477Asn) c.4977G>T (p.Lys1659Asn) c.4794G>T (p.Lys1598Asn) c.4515G>T (p.Lys1505Asn) c.3558G>T (p.Lys1186Asn) c.3549G>T (p.Lys1183Asn) | |
| 5 | g.37020624T>A | CA359487267 | NIPBL | c.5176T>A (p.Phe1726Ile) c.1-43954T>A (n.1-43954T>A) c.4432T>A (p.Phe1478Ile) c.4978T>A (p.Phe1660Ile) c.4795T>A (p.Phe1599Ile) c.4516T>A (p.Phe1506Ile) c.3559T>A (p.Phe1187Ile) c.3550T>A (p.Phe1184Ile) | |
| 5 | g.37020624T>C | CA359487270 | NIPBL | c.5176T>C (p.Phe1726Leu) c.1-43954T>C (n.1-43954T>C) c.4432T>C (p.Phe1478Leu) c.4978T>C (p.Phe1660Leu) c.4795T>C (p.Phe1599Leu) c.4516T>C (p.Phe1506Leu) c.3559T>C (p.Phe1187Leu) c.3550T>C (p.Phe1184Leu) | |
| 5 | g.37020624T>G | CA359487273 | NIPBL | c.5176T>G (p.Phe1726Val) c.1-43954T>G (n.1-43954T>G) c.4432T>G (p.Phe1478Val) c.4978T>G (p.Phe1660Val) c.4795T>G (p.Phe1599Val) c.4516T>G (p.Phe1506Val) c.3559T>G (p.Phe1187Val) c.3550T>G (p.Phe1184Val) | |
| 5 | g.37020625T>A | CA359487284 | NIPBL | c.5177T>A (p.Phe1726Tyr) c.1-43953T>A (n.1-43953T>A) c.4433T>A (p.Phe1478Tyr) c.4979T>A (p.Phe1660Tyr) c.4796T>A (p.Phe1599Tyr) c.4517T>A (p.Phe1506Tyr) c.3560T>A (p.Phe1187Tyr) c.3551T>A (p.Phe1184Tyr) | |
| 5 | g.37020625T>C | CA359487280 | NIPBL | c.5177T>C (p.Phe1726Ser) c.1-43953T>C (n.1-43953T>C) c.4433T>C (p.Phe1478Ser) c.4979T>C (p.Phe1660Ser) c.4796T>C (p.Phe1599Ser) c.4517T>C (p.Phe1506Ser) c.3560T>C (p.Phe1187Ser) c.3551T>C (p.Phe1184Ser) | |
| 5 | g.37020625T>G | CA359487277 | NIPBL | c.5177T>G (p.Phe1726Cys) c.1-43953T>G (n.1-43953T>G) c.4433T>G (p.Phe1478Cys) c.4979T>G (p.Phe1660Cys) c.4796T>G (p.Phe1599Cys) c.4517T>G (p.Phe1506Cys) c.3560T>G (p.Phe1187Cys) c.3551T>G (p.Phe1184Cys) | |
| 5 | g.37020626T>A | CA359487297 | NIPBL | c.5178T>A (p.Phe1726Leu) c.1-43952T>A (n.1-43952T>A) c.4434T>A (p.Phe1478Leu) c.4980T>A (p.Phe1660Leu) c.4797T>A (p.Phe1599Leu) c.4518T>A (p.Phe1506Leu) c.3561T>A (p.Phe1187Leu) c.3552T>A (p.Phe1184Leu) | gnomAD v4 |
| 5 | g.37020626T>C | CA443905086 | NIPBL | c.5178T>C (p.Phe1726=) c.1-43952T>C (n.1-43952T>C) c.4434T>C (p.Phe1478=) c.4980T>C (p.Phe1660=) c.4797T>C (p.Phe1599=) c.4518T>C (p.Phe1506=) c.3561T>C (p.Phe1187=) c.3552T>C (p.Phe1184=) | |
| 5 | g.37020626T>G | CA359487299 | NIPBL | c.5178T>G (p.Phe1726Leu) c.1-43952T>G (n.1-43952T>G) c.4434T>G (p.Phe1478Leu) c.4980T>G (p.Phe1660Leu) c.4797T>G (p.Phe1599Leu) c.4518T>G (p.Phe1506Leu) c.3561T>G (p.Phe1187Leu) c.3552T>G (p.Phe1184Leu) | |
| 5 | g.37020627C>A | CA359487305 | NIPBL | c.5179C>A (p.Leu1727Ile) c.1-43951C>A (n.1-43951C>A) c.4435C>A (p.Leu1479Ile) c.4981C>A (p.Leu1661Ile) c.4798C>A (p.Leu1600Ile) c.4519C>A (p.Leu1507Ile) c.3562C>A (p.Leu1188Ile) c.3553C>A (p.Leu1185Ile) | |
| 5 | g.37020627C>G | CA359487308 | NIPBL | c.5179C>G (p.Leu1727Val) c.1-43951C>G (n.1-43951C>G) c.4435C>G (p.Leu1479Val) c.4981C>G (p.Leu1661Val) c.4798C>G (p.Leu1600Val) c.4519C>G (p.Leu1507Val) c.3562C>G (p.Leu1188Val) c.3553C>G (p.Leu1185Val) | |
| 5 | g.37020627C>T | CA359487311 | NIPBL | c.5179C>T (p.Leu1727Phe) c.1-43951C>T (n.1-43951C>T) c.4435C>T (p.Leu1479Phe) c.4981C>T (p.Leu1661Phe) c.4798C>T (p.Leu1600Phe) c.4519C>T (p.Leu1507Phe) c.3562C>T (p.Leu1188Phe) c.3553C>T (p.Leu1185Phe) | |
| 5 | g.37020628T>A | CA359487314 | NIPBL | c.5180T>A (p.Leu1727His) c.1-43950T>A (n.1-43950T>A) c.4436T>A (p.Leu1479His) c.4982T>A (p.Leu1661His) c.4799T>A (p.Leu1600His) c.4520T>A (p.Leu1507His) c.3563T>A (p.Leu1188His) c.3554T>A (p.Leu1185His) | |
| 5 | g.37020628T>C | CA359487324 | NIPBL | c.5180T>C (p.Leu1727Pro) c.1-43950T>C (n.1-43950T>C) c.4436T>C (p.Leu1479Pro) c.4982T>C (p.Leu1661Pro) c.4799T>C (p.Leu1600Pro) c.4520T>C (p.Leu1507Pro) c.3563T>C (p.Leu1188Pro) c.3554T>C (p.Leu1185Pro) | |
| 5 | g.37020628T>G | CA359487326 | NIPBL | c.5180T>G (p.Leu1727Arg) c.1-43950T>G (n.1-43950T>G) c.4436T>G (p.Leu1479Arg) c.4982T>G (p.Leu1661Arg) c.4799T>G (p.Leu1600Arg) c.4520T>G (p.Leu1507Arg) c.3563T>G (p.Leu1188Arg) c.3554T>G (p.Leu1185Arg) | |
| 5 | g.37020629T>A | CA443905088 | NIPBL | c.5181T>A (p.Leu1727=) c.1-43949T>A (n.1-43949T>A) c.4437T>A (p.Leu1479=) c.4983T>A (p.Leu1661=) c.4800T>A (p.Leu1600=) c.4521T>A (p.Leu1507=) c.3564T>A (p.Leu1188=) c.3555T>A (p.Leu1185=) | |
| 5 | g.37020629T>C | CA443905089 | NIPBL | c.5181T>C (p.Leu1727=) c.1-43949T>C (n.1-43949T>C) c.4437T>C (p.Leu1479=) c.4983T>C (p.Leu1661=) c.4800T>C (p.Leu1600=) c.4521T>C (p.Leu1507=) c.3564T>C (p.Leu1188=) c.3555T>C (p.Leu1185=) | dbSNP gnomAD v4 |
| 5 | g.37020629T>G | CA443905090 | NIPBL | c.5181T>G (p.Leu1727=) c.1-43949T>G (n.1-43949T>G) c.4437T>G (p.Leu1479=) c.4983T>G (p.Leu1661=) c.4800T>G (p.Leu1600=) c.4521T>G (p.Leu1507=) c.3564T>G (p.Leu1188=) c.3555T>G (p.Leu1185=) | |
| 5 | g.37020629T= | CA1539583994 | NIPBL | c.5181T= (p.Leu1727=) c.1-43949T= (n.1-43949T=) c.4437T= (p.Leu1479=) c.4983T= (p.Leu1661=) c.4800T= (p.Leu1600=) c.4521T= (p.Leu1507=) c.3564T= (p.Leu1188=) c.3555T= (p.Leu1185=) | |
| 5 | g.37020630A= | CA1539584001 | NIPBL | c.5182A= (p.Arg1728=) c.1-43948A= (n.1-43948A=) c.4438A= (p.Arg1480=) c.4984A= (p.Arg1662=) c.4801A= (p.Arg1601=) c.4522A= (p.Arg1508=) c.3565A= (p.Arg1189=) c.3556A= (p.Arg1186=) | |
| 5 | g.37020630A>C | CA443905092 | NIPBL | c.5182A>C (p.Arg1728=) c.1-43948A>C (n.1-43948A>C) c.4438A>C (p.Arg1480=) c.4984A>C (p.Arg1662=) c.4801A>C (p.Arg1601=) c.4522A>C (p.Arg1508=) c.3565A>C (p.Arg1189=) c.3556A>C (p.Arg1186=) | |
| 5 | g.37020630A>G | CA3236707 | NIPBL | c.5182A>G (p.Arg1728Gly) c.1-43948A>G (n.1-43948A>G) c.4438A>G (p.Arg1480Gly) c.4984A>G (p.Arg1662Gly) c.4801A>G (p.Arg1601Gly) c.4522A>G (p.Arg1508Gly) c.3565A>G (p.Arg1189Gly) c.3556A>G (p.Arg1186Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020630A>T | CA359487334 | NIPBL | c.5182A>T (p.Arg1728Ter) c.1-43948A>T (n.1-43948A>T) c.4438A>T (p.Arg1480Ter) c.4984A>T (p.Arg1662Ter) c.4801A>T (p.Arg1601Ter) c.4522A>T (p.Arg1508Ter) c.3565A>T (p.Arg1189Ter) c.3556A>T (p.Arg1186Ter) | |
| 5 | g.37020631G>A | CA359487338 | NIPBL | c.5183G>A (p.Arg1728Lys) c.1-43947G>A (n.1-43947G>A) c.4439G>A (p.Arg1480Lys) c.4985G>A (p.Arg1662Lys) c.4802G>A (p.Arg1601Lys) c.4523G>A (p.Arg1508Lys) c.3566G>A (p.Arg1189Lys) c.3557G>A (p.Arg1186Lys) | gnomAD v4 |
| 5 | g.37020631G>C | CA359487343 | NIPBL | c.5183G>C (p.Arg1728Thr) c.1-43947G>C (n.1-43947G>C) c.4439G>C (p.Arg1480Thr) c.4985G>C (p.Arg1662Thr) c.4802G>C (p.Arg1601Thr) c.4523G>C (p.Arg1508Thr) c.3566G>C (p.Arg1189Thr) c.3557G>C (p.Arg1186Thr) | |
| 5 | g.37020631G>T | CA359487341 | NIPBL | c.5183G>T (p.Arg1728Ile) c.1-43947G>T (n.1-43947G>T) c.4439G>T (p.Arg1480Ile) c.4985G>T (p.Arg1662Ile) c.4802G>T (p.Arg1601Ile) c.4523G>T (p.Arg1508Ile) c.3566G>T (p.Arg1189Ile) c.3557G>T (p.Arg1186Ile) | |
| 5 | g.37020632A= | CA1539584006 | NIPBL | c.5184A= (p.Arg1728=) c.1-43946A= (n.1-43946A=) c.4440A= (p.Arg1480=) c.4986A= (p.Arg1662=) c.4803A= (p.Arg1601=) c.4524A= (p.Arg1508=) c.3567A= (p.Arg1189=) c.3558A= (p.Arg1186=) | |
| 5 | g.37020632A>C | CA359487348 | NIPBL | c.5184A>C (p.Arg1728Ser) c.1-43946A>C (n.1-43946A>C) c.4440A>C (p.Arg1480Ser) c.4986A>C (p.Arg1662Ser) c.4803A>C (p.Arg1601Ser) c.4524A>C (p.Arg1508Ser) c.3567A>C (p.Arg1189Ser) c.3558A>C (p.Arg1186Ser) | |
| 5 | g.37020632A>G | CA443905094 | NIPBL | c.5184A>G (p.Arg1728=) c.1-43946A>G (n.1-43946A>G) c.4440A>G (p.Arg1480=) c.4986A>G (p.Arg1662=) c.4803A>G (p.Arg1601=) c.4524A>G (p.Arg1508=) c.3567A>G (p.Arg1189=) c.3558A>G (p.Arg1186=) | |
| 5 | g.37020632A>T | CA3236708 | NIPBL | c.5184A>T (p.Arg1728Ser) c.1-43946A>T (n.1-43946A>T) c.4440A>T (p.Arg1480Ser) c.4986A>T (p.Arg1662Ser) c.4803A>T (p.Arg1601Ser) c.4524A>T (p.Arg1508Ser) c.3567A>T (p.Arg1189Ser) c.3558A>T (p.Arg1186Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020633A>C | CA359487353 | NIPBL | c.5185A>C (p.Ser1729Arg) c.1-43945A>C (n.1-43945A>C) c.4441A>C (p.Ser1481Arg) c.4987A>C (p.Ser1663Arg) c.4804A>C (p.Ser1602Arg) c.4525A>C (p.Ser1509Arg) c.3568A>C (p.Ser1190Arg) c.3559A>C (p.Ser1187Arg) | |
| 5 | g.37020633A>G | CA359487355 | NIPBL | c.5185A>G (p.Ser1729Gly) c.1-43945A>G (n.1-43945A>G) c.4441A>G (p.Ser1481Gly) c.4987A>G (p.Ser1663Gly) c.4804A>G (p.Ser1602Gly) c.4525A>G (p.Ser1509Gly) c.3568A>G (p.Ser1190Gly) c.3559A>G (p.Ser1187Gly) | |
| 5 | g.37020633A>T | CA359487360 | NIPBL | c.5185A>T (p.Ser1729Cys) c.1-43945A>T (n.1-43945A>T) c.4441A>T (p.Ser1481Cys) c.4987A>T (p.Ser1663Cys) c.4804A>T (p.Ser1602Cys) c.4525A>T (p.Ser1509Cys) c.3568A>T (p.Ser1190Cys) c.3559A>T (p.Ser1187Cys) | |
| 5 | g.37020634G>A | CA359487363 | NIPBL | c.5186G>A (p.Ser1729Asn) c.1-43944G>A (n.1-43944G>A) c.4442G>A (p.Ser1481Asn) c.4988G>A (p.Ser1663Asn) c.4805G>A (p.Ser1602Asn) c.4526G>A (p.Ser1509Asn) c.3569G>A (p.Ser1190Asn) c.3560G>A (p.Ser1187Asn) | gnomAD v4 |
| 5 | g.37020634G>C | CA359487366 | NIPBL | c.5186G>C (p.Ser1729Thr) c.1-43944G>C (n.1-43944G>C) c.4442G>C (p.Ser1481Thr) c.4988G>C (p.Ser1663Thr) c.4805G>C (p.Ser1602Thr) c.4526G>C (p.Ser1509Thr) c.3569G>C (p.Ser1190Thr) c.3560G>C (p.Ser1187Thr) | |
| 5 | g.37020634G>T | CA359487364 | NIPBL | c.5186G>T (p.Ser1729Ile) c.1-43944G>T (n.1-43944G>T) c.4442G>T (p.Ser1481Ile) c.4988G>T (p.Ser1663Ile) c.4805G>T (p.Ser1602Ile) c.4526G>T (p.Ser1509Ile) c.3569G>T (p.Ser1190Ile) c.3560G>T (p.Ser1187Ile) | |
| 5 | g.37020635C>A | CA359487369 | NIPBL | c.5187C>A (p.Ser1729Arg) c.1-43943C>A (n.1-43943C>A) c.4443C>A (p.Ser1481Arg) c.4989C>A (p.Ser1663Arg) c.4806C>A (p.Ser1602Arg) c.4527C>A (p.Ser1509Arg) c.3570C>A (p.Ser1190Arg) c.3561C>A (p.Ser1187Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020635C= | CA1539584040 | NIPBL | c.5187C= (p.Ser1729=) c.1-43943C= (n.1-43943C=) c.4443C= (p.Ser1481=) c.4989C= (p.Ser1663=) c.4806C= (p.Ser1602=) c.4527C= (p.Ser1509=) c.3570C= (p.Ser1190=) c.3561C= (p.Ser1187=) | |
| 5 | g.37020635C>G | CA359487371 | NIPBL | c.5187C>G (p.Ser1729Arg) c.1-43943C>G (n.1-43943C>G) c.4443C>G (p.Ser1481Arg) c.4989C>G (p.Ser1663Arg) c.4806C>G (p.Ser1602Arg) c.4527C>G (p.Ser1509Arg) c.3570C>G (p.Ser1190Arg) c.3561C>G (p.Ser1187Arg) | |
| 5 | g.37020635C>T | CA117028018 | NIPBL | c.5187C>T (p.Ser1729=) c.1-43943C>T (n.1-43943C>T) c.4443C>T (p.Ser1481=) c.4989C>T (p.Ser1663=) c.4806C>T (p.Ser1602=) c.4527C>T (p.Ser1509=) c.3570C>T (p.Ser1190=) c.3561C>T (p.Ser1187=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020636A= | CA1539584052 | NIPBL | c.5188A= (p.Ile1730=) c.1-43942A= (n.1-43942A=) c.4444A= (p.Ile1482=) c.4990A= (p.Ile1664=) c.4807A= (p.Ile1603=) c.4528A= (p.Ile1510=) c.3571A= (p.Ile1191=) c.3562A= (p.Ile1188=) | |
| 5 | g.37020636A>C | CA359487374 | NIPBL | c.5188A>C (p.Ile1730Leu) c.1-43942A>C (n.1-43942A>C) c.4444A>C (p.Ile1482Leu) c.4990A>C (p.Ile1664Leu) c.4807A>C (p.Ile1603Leu) c.4528A>C (p.Ile1510Leu) c.3571A>C (p.Ile1191Leu) c.3562A>C (p.Ile1188Leu) | |
| 5 | g.37020636A>G | CA3236709 | NIPBL | c.5188A>G (p.Ile1730Val) c.1-43942A>G (n.1-43942A>G) c.4444A>G (p.Ile1482Val) c.4990A>G (p.Ile1664Val) c.4807A>G (p.Ile1603Val) c.4528A>G (p.Ile1510Val) c.3571A>G (p.Ile1191Val) c.3562A>G (p.Ile1188Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020636A>T | CA359487379 | NIPBL | c.5188A>T (p.Ile1730Phe) c.1-43942A>T (n.1-43942A>T) c.4444A>T (p.Ile1482Phe) c.4990A>T (p.Ile1664Phe) c.4807A>T (p.Ile1603Phe) c.4528A>T (p.Ile1510Phe) c.3571A>T (p.Ile1191Phe) c.3562A>T (p.Ile1188Phe) | |
| 5 | g.37020637T>A | CA359487382 | NIPBL | c.5189T>A (p.Ile1730Asn) c.1-43941T>A (n.1-43941T>A) c.4445T>A (p.Ile1482Asn) c.4991T>A (p.Ile1664Asn) c.4808T>A (p.Ile1603Asn) c.4529T>A (p.Ile1510Asn) c.3572T>A (p.Ile1191Asn) c.3563T>A (p.Ile1188Asn) | |
| 5 | g.37020637T>C | CA359487385 | NIPBL | c.5189T>C (p.Ile1730Thr) c.1-43941T>C (n.1-43941T>C) c.4445T>C (p.Ile1482Thr) c.4991T>C (p.Ile1664Thr) c.4808T>C (p.Ile1603Thr) c.4529T>C (p.Ile1510Thr) c.3572T>C (p.Ile1191Thr) c.3563T>C (p.Ile1188Thr) | |
| 5 | g.37020637T>G | CA359487387 | NIPBL | c.5189T>G (p.Ile1730Ser) c.1-43941T>G (n.1-43941T>G) c.4445T>G (p.Ile1482Ser) c.4991T>G (p.Ile1664Ser) c.4808T>G (p.Ile1603Ser) c.4529T>G (p.Ile1510Ser) c.3572T>G (p.Ile1191Ser) c.3563T>G (p.Ile1188Ser) | |
| 5 | g.37020638T>A | CA443905101 | NIPBL | c.5190T>A (p.Ile1730=) c.1-43940T>A (n.1-43940T>A) c.4446T>A (p.Ile1482=) c.4992T>A (p.Ile1664=) c.4809T>A (p.Ile1603=) c.4530T>A (p.Ile1510=) c.3573T>A (p.Ile1191=) c.3564T>A (p.Ile1188=) | |
| 5 | g.37020638T>C | CA443905102 | NIPBL | c.5190T>C (p.Ile1730=) c.1-43940T>C (n.1-43940T>C) c.4446T>C (p.Ile1482=) c.4992T>C (p.Ile1664=) c.4809T>C (p.Ile1603=) c.4530T>C (p.Ile1510=) c.3573T>C (p.Ile1191=) c.3564T>C (p.Ile1188=) | |
| 5 | g.37020638T>G | CA359487388 | NIPBL | c.5190T>G (p.Ile1730Met) c.1-43940T>G (n.1-43940T>G) c.4446T>G (p.Ile1482Met) c.4992T>G (p.Ile1664Met) c.4809T>G (p.Ile1603Met) c.4530T>G (p.Ile1510Met) c.3573T>G (p.Ile1191Met) c.3564T>G (p.Ile1188Met) | |
| 5 | g.37020639A= | CA1539584056 | NIPBL | c.5191A= (p.Ile1731=) c.1-43939A= (n.1-43939A=) c.4447A= (p.Ile1483=) c.4993A= (p.Ile1665=) c.4810A= (p.Ile1604=) c.4531A= (p.Ile1511=) c.3574A= (p.Ile1192=) c.3565A= (p.Ile1189=) | |
| 5 | g.37020639A>C | CA359487391 | NIPBL | c.5191A>C (p.Ile1731Leu) c.1-43939A>C (n.1-43939A>C) c.4447A>C (p.Ile1483Leu) c.4993A>C (p.Ile1665Leu) c.4810A>C (p.Ile1604Leu) c.4531A>C (p.Ile1511Leu) c.3574A>C (p.Ile1192Leu) c.3565A>C (p.Ile1189Leu) | |
| 5 | g.37020639A>G | CA3236710 | NIPBL | c.5191A>G (p.Ile1731Val) c.1-43939A>G (n.1-43939A>G) c.4447A>G (p.Ile1483Val) c.4993A>G (p.Ile1665Val) c.4810A>G (p.Ile1604Val) c.4531A>G (p.Ile1511Val) c.3574A>G (p.Ile1192Val) c.3565A>G (p.Ile1189Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020639A>T | CA359487393 | NIPBL | c.5191A>T (p.Ile1731Phe) c.1-43939A>T (n.1-43939A>T) c.4447A>T (p.Ile1483Phe) c.4993A>T (p.Ile1665Phe) c.4810A>T (p.Ile1604Phe) c.4531A>T (p.Ile1511Phe) c.3574A>T (p.Ile1192Phe) c.3565A>T (p.Ile1189Phe) | |
| 5 | g.37020640T>A | CA359487399 | NIPBL | c.5192T>A (p.Ile1731Asn) c.1-43938T>A (n.1-43938T>A) c.4448T>A (p.Ile1483Asn) c.4994T>A (p.Ile1665Asn) c.4811T>A (p.Ile1604Asn) c.4532T>A (p.Ile1511Asn) c.3575T>A (p.Ile1192Asn) c.3566T>A (p.Ile1189Asn) | |
| 5 | g.37020640T>C | CA359487406 | NIPBL | c.5192T>C (p.Ile1731Thr) c.1-43938T>C (n.1-43938T>C) c.4448T>C (p.Ile1483Thr) c.4994T>C (p.Ile1665Thr) c.4811T>C (p.Ile1604Thr) c.4532T>C (p.Ile1511Thr) c.3575T>C (p.Ile1192Thr) c.3566T>C (p.Ile1189Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020640T>G | CA359487404 | NIPBL | c.5192T>G (p.Ile1731Ser) c.1-43938T>G (n.1-43938T>G) c.4448T>G (p.Ile1483Ser) c.4994T>G (p.Ile1665Ser) c.4811T>G (p.Ile1604Ser) c.4532T>G (p.Ile1511Ser) c.3575T>G (p.Ile1192Ser) c.3566T>G (p.Ile1189Ser) | |
| 5 | g.37020640T= | CA1539584060 | NIPBL | c.5192T= (p.Ile1731=) c.1-43938T= (n.1-43938T=) c.4448T= (p.Ile1483=) c.4994T= (p.Ile1665=) c.4811T= (p.Ile1604=) c.4532T= (p.Ile1511=) c.3575T= (p.Ile1192=) c.3566T= (p.Ile1189=) | |
| 5 | g.37020641C>A | CA443905106 | NIPBL | c.5193C>A (p.Ile1731=) c.1-43937C>A (n.1-43937C>A) c.4449C>A (p.Ile1483=) c.4995C>A (p.Ile1665=) c.4812C>A (p.Ile1604=) c.4533C>A (p.Ile1511=) c.3576C>A (p.Ile1192=) c.3567C>A (p.Ile1189=) | |
| 5 | g.37020641C>G | CA359487413 | NIPBL | c.5193C>G (p.Ile1731Met) c.1-43937C>G (n.1-43937C>G) c.4449C>G (p.Ile1483Met) c.4995C>G (p.Ile1665Met) c.4812C>G (p.Ile1604Met) c.4533C>G (p.Ile1511Met) c.3576C>G (p.Ile1192Met) c.3567C>G (p.Ile1189Met) | |
| 5 | g.37020641C>T | CA443905107 | NIPBL | c.5193C>T (p.Ile1731=) c.1-43937C>T (n.1-43937C>T) c.4449C>T (p.Ile1483=) c.4995C>T (p.Ile1665=) c.4812C>T (p.Ile1604=) c.4533C>T (p.Ile1511=) c.3576C>T (p.Ile1192=) c.3567C>T (p.Ile1189=) | |
| 5 | g.37020642A>C | CA359487414 | NIPBL | c.5194A>C (p.Lys1732Gln) c.1-43936A>C (n.1-43936A>C) c.4450A>C (p.Lys1484Gln) c.4996A>C (p.Lys1666Gln) c.4813A>C (p.Lys1605Gln) c.4534A>C (p.Lys1512Gln) c.3577A>C (p.Lys1193Gln) c.3568A>C (p.Lys1190Gln) | |
| 5 | g.37020642A>G | CA359487416 | NIPBL | c.5194A>G (p.Lys1732Glu) c.1-43936A>G (n.1-43936A>G) c.4450A>G (p.Lys1484Glu) c.4996A>G (p.Lys1666Glu) c.4813A>G (p.Lys1605Glu) c.4534A>G (p.Lys1512Glu) c.3577A>G (p.Lys1193Glu) c.3568A>G (p.Lys1190Glu) | |
| 5 | g.37020642A>T | CA359487418 | NIPBL | c.5194A>T (p.Lys1732Ter) c.1-43936A>T (n.1-43936A>T) c.4450A>T (p.Lys1484Ter) c.4996A>T (p.Lys1666Ter) c.4813A>T (p.Lys1605Ter) c.4534A>T (p.Lys1512Ter) c.3577A>T (p.Lys1193Ter) c.3568A>T (p.Lys1190Ter) | |
| 5 | g.37020643A= | CA1539584071 | NIPBL | c.5195A= (p.Lys1732=) c.1-43935A= (n.1-43935A=) c.4451A= (p.Lys1484=) c.4997A= (p.Lys1666=) c.4814A= (p.Lys1605=) c.4535A= (p.Lys1512=) c.3578A= (p.Lys1193=) c.3569A= (p.Lys1190=) | |
| 5 | g.37020643A>C | CA359487419 | NIPBL | c.5195A>C (p.Lys1732Thr) c.1-43935A>C (n.1-43935A>C) c.4451A>C (p.Lys1484Thr) c.4997A>C (p.Lys1666Thr) c.4814A>C (p.Lys1605Thr) c.4535A>C (p.Lys1512Thr) c.3578A>C (p.Lys1193Thr) c.3569A>C (p.Lys1190Thr) | |
| 5 | g.37020643A>G | CA3236711 | NIPBL | c.5195A>G (p.Lys1732Arg) c.1-43935A>G (n.1-43935A>G) c.4451A>G (p.Lys1484Arg) c.4997A>G (p.Lys1666Arg) c.4814A>G (p.Lys1605Arg) c.4535A>G (p.Lys1512Arg) c.3578A>G (p.Lys1193Arg) c.3569A>G (p.Lys1190Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020643A>T | CA359487423 | NIPBL | c.5195A>T (p.Lys1732Ile) c.1-43935A>T (n.1-43935A>T) c.4451A>T (p.Lys1484Ile) c.4997A>T (p.Lys1666Ile) c.4814A>T (p.Lys1605Ile) c.4535A>T (p.Lys1512Ile) c.3578A>T (p.Lys1193Ile) c.3569A>T (p.Lys1190Ile) | |
| 5 | g.37020644A>C | CA359487427 | NIPBL | c.5196A>C (p.Lys1732Asn) c.1-43934A>C (n.1-43934A>C) c.4452A>C (p.Lys1484Asn) c.4998A>C (p.Lys1666Asn) c.4815A>C (p.Lys1605Asn) c.4536A>C (p.Lys1512Asn) c.3579A>C (p.Lys1193Asn) c.3570A>C (p.Lys1190Asn) | |
| 5 | g.37020644A>G | CA443905109 | NIPBL | c.5196A>G (p.Lys1732=) c.1-43934A>G (n.1-43934A>G) c.4452A>G (p.Lys1484=) c.4998A>G (p.Lys1666=) c.4815A>G (p.Lys1605=) c.4536A>G (p.Lys1512=) c.3579A>G (p.Lys1193=) c.3570A>G (p.Lys1190=) | |
| 5 | g.37020644A>T | CA359487429 | NIPBL | c.5196A>T (p.Lys1732Asn) c.1-43934A>T (n.1-43934A>T) c.4452A>T (p.Lys1484Asn) c.4998A>T (p.Lys1666Asn) c.4815A>T (p.Lys1605Asn) c.4536A>T (p.Lys1512Asn) c.3579A>T (p.Lys1193Asn) c.3570A>T (p.Lys1190Asn) | |
| 5 | g.37020645A= | CA1539584083 | NIPBL | c.5197A= (p.Thr1733=) c.1-43933A= (n.1-43933A=) c.4453A= (p.Thr1485=) c.4999A= (p.Thr1667=) c.4816A= (p.Thr1606=) c.4537A= (p.Thr1513=) c.3580A= (p.Thr1194=) c.3571A= (p.Thr1191=) | |
| 5 | g.37020645A>C | CA359487432 | NIPBL | c.5197A>C (p.Thr1733Pro) c.1-43933A>C (n.1-43933A>C) c.4453A>C (p.Thr1485Pro) c.4999A>C (p.Thr1667Pro) c.4816A>C (p.Thr1606Pro) c.4537A>C (p.Thr1513Pro) c.3580A>C (p.Thr1194Pro) c.3571A>C (p.Thr1191Pro) | |
| 5 | g.37020645A>G | CA359487434 | NIPBL | c.5197A>G (p.Thr1733Ala) c.1-43933A>G (n.1-43933A>G) c.4453A>G (p.Thr1485Ala) c.4999A>G (p.Thr1667Ala) c.4816A>G (p.Thr1606Ala) c.4537A>G (p.Thr1513Ala) c.3580A>G (p.Thr1194Ala) c.3571A>G (p.Thr1191Ala) | |
| 5 | g.37020645A>T | CA3236712 | NIPBL | c.5197A>T (p.Thr1733Ser) c.1-43933A>T (n.1-43933A>T) c.4453A>T (p.Thr1485Ser) c.4999A>T (p.Thr1667Ser) c.4816A>T (p.Thr1606Ser) c.4537A>T (p.Thr1513Ser) c.3580A>T (p.Thr1194Ser) c.3571A>T (p.Thr1191Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020646C>A | CA359487439 | NIPBL | c.5198C>A (p.Thr1733Asn) c.1-43932C>A (n.1-43932C>A) c.4454C>A (p.Thr1485Asn) c.5000C>A (p.Thr1667Asn) c.4817C>A (p.Thr1606Asn) c.4538C>A (p.Thr1513Asn) c.3581C>A (p.Thr1194Asn) c.3572C>A (p.Thr1191Asn) | |
| 5 | g.37020646C= | CA1539584089 | NIPBL | c.5198C= (p.Thr1733=) c.1-43932C= (n.1-43932C=) c.4454C= (p.Thr1485=) c.5000C= (p.Thr1667=) c.4817C= (p.Thr1606=) c.4538C= (p.Thr1513=) c.3581C= (p.Thr1194=) c.3572C= (p.Thr1191=) | |
| 5 | g.37020646C>G | CA359487436 | NIPBL | c.5198C>G (p.Thr1733Ser) c.1-43932C>G (n.1-43932C>G) c.4454C>G (p.Thr1485Ser) c.5000C>G (p.Thr1667Ser) c.4817C>G (p.Thr1606Ser) c.4538C>G (p.Thr1513Ser) c.3581C>G (p.Thr1194Ser) c.3572C>G (p.Thr1191Ser) | |
| 5 | g.37020646C>T | CA3236713 | NIPBL | c.5198C>T (p.Thr1733Ile) c.1-43932C>T (n.1-43932C>T) c.4454C>T (p.Thr1485Ile) c.5000C>T (p.Thr1667Ile) c.4817C>T (p.Thr1606Ile) c.4538C>T (p.Thr1513Ile) c.3581C>T (p.Thr1194Ile) c.3572C>T (p.Thr1191Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020647C>A | CA443905112 | NIPBL | c.5199C>A (p.Thr1733=) c.1-43931C>A (n.1-43931C>A) c.4455C>A (p.Thr1485=) c.5001C>A (p.Thr1667=) c.4818C>A (p.Thr1606=) c.4539C>A (p.Thr1513=) c.3582C>A (p.Thr1194=) c.3573C>A (p.Thr1191=) | |
| 5 | g.37020647C= | CA1539584096 | NIPBL | c.5199C= (p.Thr1733=) c.1-43931C= (n.1-43931C=) c.4455C= (p.Thr1485=) c.5001C= (p.Thr1667=) c.4818C= (p.Thr1606=) c.4539C= (p.Thr1513=) c.3582C= (p.Thr1194=) c.3573C= (p.Thr1191=) | |
| 5 | g.37020647C>G | CA443905111 | NIPBL | c.5199C>G (p.Thr1733=) c.1-43931C>G (n.1-43931C>G) c.4455C>G (p.Thr1485=) c.5001C>G (p.Thr1667=) c.4818C>G (p.Thr1606=) c.4539C>G (p.Thr1513=) c.3582C>G (p.Thr1194=) c.3573C>G (p.Thr1191=) | |
| 5 | g.37020647C>T | CA443905110 | NIPBL | c.5199C>T (p.Thr1733=) c.1-43931C>T (n.1-43931C>T) c.4455C>T (p.Thr1485=) c.5001C>T (p.Thr1667=) c.4818C>T (p.Thr1606=) c.4539C>T (p.Thr1513=) c.3582C>T (p.Thr1194=) c.3573C>T (p.Thr1191=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020648A>C | CA359487442 | NIPBL | c.5200A>C (p.Thr1734Pro) c.1-43930A>C (n.1-43930A>C) c.4456A>C (p.Thr1486Pro) c.5002A>C (p.Thr1668Pro) c.4819A>C (p.Thr1607Pro) c.4540A>C (p.Thr1514Pro) c.3583A>C (p.Thr1195Pro) c.3574A>C (p.Thr1192Pro) | |
| 5 | g.37020648A>G | CA359487451 | NIPBL | c.5200A>G (p.Thr1734Ala) c.1-43930A>G (n.1-43930A>G) c.4456A>G (p.Thr1486Ala) c.5002A>G (p.Thr1668Ala) c.4819A>G (p.Thr1607Ala) c.4540A>G (p.Thr1514Ala) c.3583A>G (p.Thr1195Ala) c.3574A>G (p.Thr1192Ala) | |
| 5 | g.37020648A>T | CA359487454 | NIPBL | c.5200A>T (p.Thr1734Ser) c.1-43930A>T (n.1-43930A>T) c.4456A>T (p.Thr1486Ser) c.5002A>T (p.Thr1668Ser) c.4819A>T (p.Thr1607Ser) c.4540A>T (p.Thr1514Ser) c.3583A>T (p.Thr1195Ser) c.3574A>T (p.Thr1192Ser) | |
| 5 | g.37020649C>A | CA359487457 | NIPBL | c.5201C>A (p.Thr1734Lys) c.1-43929C>A (n.1-43929C>A) c.4457C>A (p.Thr1486Lys) c.5003C>A (p.Thr1668Lys) c.4820C>A (p.Thr1607Lys) c.4541C>A (p.Thr1514Lys) c.3584C>A (p.Thr1195Lys) c.3575C>A (p.Thr1192Lys) | |
| 5 | g.37020649C>G | CA359487461 | NIPBL | c.5201C>G (p.Thr1734Arg) c.1-43929C>G (n.1-43929C>G) c.4457C>G (p.Thr1486Arg) c.5003C>G (p.Thr1668Arg) c.4820C>G (p.Thr1607Arg) c.4541C>G (p.Thr1514Arg) c.3584C>G (p.Thr1195Arg) c.3575C>G (p.Thr1192Arg) | |
| 5 | g.37020649C>T | CA359487463 | NIPBL | c.5201C>T (p.Thr1734Ile) c.1-43929C>T (n.1-43929C>T) c.4457C>T (p.Thr1486Ile) c.5003C>T (p.Thr1668Ile) c.4820C>T (p.Thr1607Ile) c.4541C>T (p.Thr1514Ile) c.3584C>T (p.Thr1195Ile) c.3575C>T (p.Thr1192Ile) | gnomAD v4 |
| 5 | g.37020650A>C | CA443905113 | NIPBL | c.5202A>C (p.Thr1734=) c.1-43928A>C (n.1-43928A>C) c.4458A>C (p.Thr1486=) c.5004A>C (p.Thr1668=) c.4821A>C (p.Thr1607=) c.4542A>C (p.Thr1514=) c.3585A>C (p.Thr1195=) c.3576A>C (p.Thr1192=) | |
| 5 | g.37020650A>G | CA443905115 | NIPBL | c.5202A>G (p.Thr1734=) c.1-43928A>G (n.1-43928A>G) c.4458A>G (p.Thr1486=) c.5004A>G (p.Thr1668=) c.4821A>G (p.Thr1607=) c.4542A>G (p.Thr1514=) c.3585A>G (p.Thr1195=) c.3576A>G (p.Thr1192=) | gnomAD v4 |
| 5 | g.37020650A>T | CA443905114 | NIPBL | c.5202A>T (p.Thr1734=) c.1-43928A>T (n.1-43928A>T) c.4458A>T (p.Thr1486=) c.5004A>T (p.Thr1668=) c.4821A>T (p.Thr1607=) c.4542A>T (p.Thr1514=) c.3585A>T (p.Thr1195=) c.3576A>T (p.Thr1192=) | |
| 5 | g.37020651C>A | CA359487466 | NIPBL | c.5203C>A (p.Pro1735Thr) c.1-43927C>A (n.1-43927C>A) c.4459C>A (p.Pro1487Thr) c.5005C>A (p.Pro1669Thr) c.4822C>A (p.Pro1608Thr) c.4543C>A (p.Pro1515Thr) c.3586C>A (p.Pro1196Thr) c.3577C>A (p.Pro1193Thr) | |
| 5 | g.37020651C>G | CA359487467 | NIPBL | c.5203C>G (p.Pro1735Ala) c.1-43927C>G (n.1-43927C>G) c.4459C>G (p.Pro1487Ala) c.5005C>G (p.Pro1669Ala) c.4822C>G (p.Pro1608Ala) c.4543C>G (p.Pro1515Ala) c.3586C>G (p.Pro1196Ala) c.3577C>G (p.Pro1193Ala) | |
| 5 | g.37020651C>T | CA359487468 | NIPBL | c.5203C>T (p.Pro1735Ser) c.1-43927C>T (n.1-43927C>T) c.4459C>T (p.Pro1487Ser) c.5005C>T (p.Pro1669Ser) c.4822C>T (p.Pro1608Ser) c.4543C>T (p.Pro1515Ser) c.3586C>T (p.Pro1196Ser) c.3577C>T (p.Pro1193Ser) | |
| 5 | g.37020652C>A | CA359487469 | NIPBL | c.5204C>A (p.Pro1735His) c.1-43926C>A (n.1-43926C>A) c.4460C>A (p.Pro1487His) c.5006C>A (p.Pro1669His) c.4823C>A (p.Pro1608His) c.4544C>A (p.Pro1515His) c.3587C>A (p.Pro1196His) c.3578C>A (p.Pro1193His) | |
| 5 | g.37020652C= | CA1539584101 | NIPBL | c.5204C= (p.Pro1735=) c.1-43926C= (n.1-43926C=) c.4460C= (p.Pro1487=) c.5006C= (p.Pro1669=) c.4823C= (p.Pro1608=) c.4544C= (p.Pro1515=) c.3587C= (p.Pro1196=) c.3578C= (p.Pro1193=) | |
| 5 | g.37020652C>G | CA359487470 | NIPBL | c.5204C>G (p.Pro1735Arg) c.1-43926C>G (n.1-43926C>G) c.4460C>G (p.Pro1487Arg) c.5006C>G (p.Pro1669Arg) c.4823C>G (p.Pro1608Arg) c.4544C>G (p.Pro1515Arg) c.3587C>G (p.Pro1196Arg) c.3578C>G (p.Pro1193Arg) | dbSNP gnomAD v4 |
| 5 | g.37020652C>T | CA359487472 | NIPBL | c.5204C>T (p.Pro1735Leu) c.1-43926C>T (n.1-43926C>T) c.4460C>T (p.Pro1487Leu) c.5006C>T (p.Pro1669Leu) c.4823C>T (p.Pro1608Leu) c.4544C>T (p.Pro1515Leu) c.3587C>T (p.Pro1196Leu) c.3578C>T (p.Pro1193Leu) | |
| 5 | g.37020654_37020656del | CA2673553369 | NIPBL | c.5206_5208del (p.Ser1736del) c.1-43924_1-43922del (n.1-43924_1-43922del) c.4462_4464del (p.Ser1488del) c.5008_5010del (p.Ser1670del) c.4825_4827del (p.Ser1609del) c.4546_4548del (p.Ser1516del) c.3589_3591del (p.Ser1197del) c.3580_3582del (p.Ser1194del) | gnomAD v4 |
| 5 | g.37020653T>A | CA443905117 | NIPBL | c.5205T>A (p.Pro1735=) c.1-43925T>A (n.1-43925T>A) c.4461T>A (p.Pro1487=) c.5007T>A (p.Pro1669=) c.4824T>A (p.Pro1608=) c.4545T>A (p.Pro1515=) c.3588T>A (p.Pro1196=) c.3579T>A (p.Pro1193=) | |
| 5 | g.37020653T>C | CA443905118 | NIPBL | c.5205T>C (p.Pro1735=) c.1-43925T>C (n.1-43925T>C) c.4461T>C (p.Pro1487=) c.5007T>C (p.Pro1669=) c.4824T>C (p.Pro1608=) c.4545T>C (p.Pro1515=) c.3588T>C (p.Pro1196=) c.3579T>C (p.Pro1193=) | |
| 5 | g.37020653T>G | CA443905119 | NIPBL | c.5205T>G (p.Pro1735=) c.1-43925T>G (n.1-43925T>G) c.4461T>G (p.Pro1487=) c.5007T>G (p.Pro1669=) c.4824T>G (p.Pro1608=) c.4545T>G (p.Pro1515=) c.3588T>G (p.Pro1196=) c.3579T>G (p.Pro1193=) | |
| 5 | g.37020655_37020670del | CA2695204348 | NIPBL | c.5207_5222del (p.Ser1736Ter) c.1-43923_1-43908del (n.1-43923_1-43908del) c.4463_4478del (p.Ser1488Ter) c.5009_5024del (p.Ser1670Ter) c.4826_4841del (p.Ser1609Ter) c.4547_4562del (p.Ser1516Ter) c.3590_3605del (p.Ser1197Ter) c.3581_3596del (p.Ser1194Ter) | |
| 5 | g.37020654T>A | CA359487475 | NIPBL | c.5206T>A (p.Ser1736Thr) c.1-43924T>A (n.1-43924T>A) c.4462T>A (p.Ser1488Thr) c.5008T>A (p.Ser1670Thr) c.4825T>A (p.Ser1609Thr) c.4546T>A (p.Ser1516Thr) c.3589T>A (p.Ser1197Thr) c.3580T>A (p.Ser1194Thr) | |
| 5 | g.37020654T>C | CA359487486 | NIPBL | c.5206T>C (p.Ser1736Pro) c.1-43924T>C (n.1-43924T>C) c.4462T>C (p.Ser1488Pro) c.5008T>C (p.Ser1670Pro) c.4825T>C (p.Ser1609Pro) c.4546T>C (p.Ser1516Pro) c.3589T>C (p.Ser1197Pro) c.3580T>C (p.Ser1194Pro) | |
| 5 | g.37020654T>G | CA359487483 | NIPBL | c.5206T>G (p.Ser1736Ala) c.1-43924T>G (n.1-43924T>G) c.4462T>G (p.Ser1488Ala) c.5008T>G (p.Ser1670Ala) c.4825T>G (p.Ser1609Ala) c.4546T>G (p.Ser1516Ala) c.3589T>G (p.Ser1197Ala) c.3580T>G (p.Ser1194Ala) | |
| 5 | g.37020655C>A | CA359487495 | NIPBL | c.5207C>A (p.Ser1736Tyr) c.1-43923C>A (n.1-43923C>A) c.4463C>A (p.Ser1488Tyr) c.5009C>A (p.Ser1670Tyr) c.4826C>A (p.Ser1609Tyr) c.4547C>A (p.Ser1516Tyr) c.3590C>A (p.Ser1197Tyr) c.3581C>A (p.Ser1194Tyr) | |
| 5 | g.37020655C= | CA1539584112 | NIPBL | c.5207C= (p.Ser1736=) c.1-43923C= (n.1-43923C=) c.4463C= (p.Ser1488=) c.5009C= (p.Ser1670=) c.4826C= (p.Ser1609=) c.4547C= (p.Ser1516=) c.3590C= (p.Ser1197=) c.3581C= (p.Ser1194=) | |
| 5 | g.37020655C>G | CA359487499 | NIPBL | c.5207C>G (p.Ser1736Cys) c.1-43923C>G (n.1-43923C>G) c.4463C>G (p.Ser1488Cys) c.5009C>G (p.Ser1670Cys) c.4826C>G (p.Ser1609Cys) c.4547C>G (p.Ser1516Cys) c.3590C>G (p.Ser1197Cys) c.3581C>G (p.Ser1194Cys) | |
| 5 | g.37020655C>T | CA3236714 | NIPBL | c.5207C>T (p.Ser1736Phe) c.1-43923C>T (n.1-43923C>T) c.4463C>T (p.Ser1488Phe) c.5009C>T (p.Ser1670Phe) c.4826C>T (p.Ser1609Phe) c.4547C>T (p.Ser1516Phe) c.3590C>T (p.Ser1197Phe) c.3581C>T (p.Ser1194Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020656T>A | CA443905120 | NIPBL | c.5208T>A (p.Ser1736=) c.1-43922T>A (n.1-43922T>A) c.4464T>A (p.Ser1488=) c.5010T>A (p.Ser1670=) c.4827T>A (p.Ser1609=) c.4548T>A (p.Ser1516=) c.3591T>A (p.Ser1197=) c.3582T>A (p.Ser1194=) | |
| 5 | g.37020656T>C | CA443905121 | NIPBL | c.5208T>C (p.Ser1736=) c.1-43922T>C (n.1-43922T>C) c.4464T>C (p.Ser1488=) c.5010T>C (p.Ser1670=) c.4827T>C (p.Ser1609=) c.4548T>C (p.Ser1516=) c.3591T>C (p.Ser1197=) c.3582T>C (p.Ser1194=) | dbSNP |
| 5 | g.37020656T>G | CA443905122 | NIPBL | c.5208T>G (p.Ser1736=) c.1-43922T>G (n.1-43922T>G) c.4464T>G (p.Ser1488=) c.5010T>G (p.Ser1670=) c.4827T>G (p.Ser1609=) c.4548T>G (p.Ser1516=) c.3591T>G (p.Ser1197=) c.3582T>G (p.Ser1194=) | |
| 5 | g.37020656T= | CA1539584115 | NIPBL | c.5208T= (p.Ser1736=) c.1-43922T= (n.1-43922T=) c.4464T= (p.Ser1488=) c.5010T= (p.Ser1670=) c.4827T= (p.Ser1609=) c.4548T= (p.Ser1516=) c.3591T= (p.Ser1197=) c.3582T= (p.Ser1194=) | |
| 5 | g.37020657C>A | CA359487503 | NIPBL | c.5209C>A (p.Gln1737Lys) c.1-43921C>A (n.1-43921C>A) c.4465C>A (p.Gln1489Lys) c.5011C>A (p.Gln1671Lys) c.4828C>A (p.Gln1610Lys) c.4549C>A (p.Gln1517Lys) c.3592C>A (p.Gln1198Lys) c.3583C>A (p.Gln1195Lys) | |
| 5 | g.37020657C>G | CA359487506 | NIPBL | c.5209C>G (p.Gln1737Glu) c.1-43921C>G (n.1-43921C>G) c.4465C>G (p.Gln1489Glu) c.5011C>G (p.Gln1671Glu) c.4828C>G (p.Gln1610Glu) c.4549C>G (p.Gln1517Glu) c.3592C>G (p.Gln1198Glu) c.3583C>G (p.Gln1195Glu) | |
| 5 | g.37020657C>T | CA359487509 | NIPBL | c.5209C>T (p.Gln1737Ter) c.1-43921C>T (n.1-43921C>T) c.4465C>T (p.Gln1489Ter) c.5011C>T (p.Gln1671Ter) c.4828C>T (p.Gln1610Ter) c.4549C>T (p.Gln1517Ter) c.3592C>T (p.Gln1198Ter) c.3583C>T (p.Gln1195Ter) | |
| 5 | g.37020658A= | CA1539584117 | NIPBL | c.5210A= (p.Gln1737=) c.1-43920A= (n.1-43920A=) c.4466A= (p.Gln1489=) c.5012A= (p.Gln1671=) c.4829A= (p.Gln1610=) c.4550A= (p.Gln1517=) c.3593A= (p.Gln1198=) c.3584A= (p.Gln1195=) | |
| 5 | g.37020658A>C | CA359487511 | NIPBL | c.5210A>C (p.Gln1737Pro) c.1-43920A>C (n.1-43920A>C) c.4466A>C (p.Gln1489Pro) c.5012A>C (p.Gln1671Pro) c.4829A>C (p.Gln1610Pro) c.4550A>C (p.Gln1517Pro) c.3593A>C (p.Gln1198Pro) c.3584A>C (p.Gln1195Pro) | |
| 5 | g.37020658A>G | CA3236715 | NIPBL | c.5210A>G (p.Gln1737Arg) c.1-43920A>G (n.1-43920A>G) c.4466A>G (p.Gln1489Arg) c.5012A>G (p.Gln1671Arg) c.4829A>G (p.Gln1610Arg) c.4550A>G (p.Gln1517Arg) c.3593A>G (p.Gln1198Arg) c.3584A>G (p.Gln1195Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020658A>T | CA359487519 | NIPBL | c.5210A>T (p.Gln1737Leu) c.1-43920A>T (n.1-43920A>T) c.4466A>T (p.Gln1489Leu) c.5012A>T (p.Gln1671Leu) c.4829A>T (p.Gln1610Leu) c.4550A>T (p.Gln1517Leu) c.3593A>T (p.Gln1198Leu) c.3584A>T (p.Gln1195Leu) | |
| 5 | g.37020659G>A | CA172712 | NIPBL | c.5211G>A (p.Gln1737=) c.1-43919G>A (n.1-43919G>A) c.4467G>A (p.Gln1489=) c.5013G>A (p.Gln1671=) c.4830G>A (p.Gln1610=) c.4551G>A (p.Gln1517=) c.3594G>A (p.Gln1198=) c.3585G>A (p.Gln1195=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020659G>C | CA359487524 | NIPBL | c.5211G>C (p.Gln1737His) c.1-43919G>C (n.1-43919G>C) c.4467G>C (p.Gln1489His) c.5013G>C (p.Gln1671His) c.4830G>C (p.Gln1610His) c.4551G>C (p.Gln1517His) c.3594G>C (p.Gln1198His) c.3585G>C (p.Gln1195His) | |
| 5 | g.37020659G= | CA1539584125 | NIPBL | c.5211G= (p.Gln1737=) c.1-43919G= (n.1-43919G=) c.4467G= (p.Gln1489=) c.5013G= (p.Gln1671=) c.4830G= (p.Gln1610=) c.4551G= (p.Gln1517=) c.3594G= (p.Gln1198=) c.3585G= (p.Gln1195=) | |
| 5 | g.37020659G>T | CA359487527 | NIPBL | c.5211G>T (p.Gln1737His) c.1-43919G>T (n.1-43919G>T) c.4467G>T (p.Gln1489His) c.5013G>T (p.Gln1671His) c.4830G>T (p.Gln1610His) c.4551G>T (p.Gln1517His) c.3594G>T (p.Gln1198His) c.3585G>T (p.Gln1195His) | |
| 5 | g.37020660T>A | CA359487529 | NIPBL | c.5212T>A (p.Phe1738Ile) c.1-43918T>A (n.1-43918T>A) c.4468T>A (p.Phe1490Ile) c.5014T>A (p.Phe1672Ile) c.4831T>A (p.Phe1611Ile) c.4552T>A (p.Phe1518Ile) c.3595T>A (p.Phe1199Ile) c.3586T>A (p.Phe1196Ile) | |
| 5 | g.37020660T>C | CA359487530 | NIPBL | c.5212T>C (p.Phe1738Leu) c.1-43918T>C (n.1-43918T>C) c.4468T>C (p.Phe1490Leu) c.5014T>C (p.Phe1672Leu) c.4831T>C (p.Phe1611Leu) c.4552T>C (p.Phe1518Leu) c.3595T>C (p.Phe1199Leu) c.3586T>C (p.Phe1196Leu) | |
| 5 | g.37020660T>G | CA359487531 | NIPBL | c.5212T>G (p.Phe1738Val) c.1-43918T>G (n.1-43918T>G) c.4468T>G (p.Phe1490Val) c.5014T>G (p.Phe1672Val) c.4831T>G (p.Phe1611Val) c.4552T>G (p.Phe1518Val) c.3595T>G (p.Phe1199Val) c.3586T>G (p.Phe1196Val) | |
| 5 | g.37020662dup | CA333577 | NIPBL | c.5214dup (p.Ser1739Ter) c.1-43916dup (n.1-43916dup) c.4470dup (p.Ser1491Ter) c.5016dup (p.Ser1673Ter) c.4833dup (p.Ser1612Ter) c.4554dup (p.Ser1519Ter) c.3597dup (p.Ser1200Ter) c.3588dup (p.Ser1197Ter) | ClinVar dbSNP |