| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37022022T>C | CA2673554079 | NIPBL | c.5329-29T>C (n.5329-29T>C) c.1-42556T>C (n.1-42556T>C) c.4585-29T>C (n.4585-29T>C) c.5131-29T>C (n.5131-29T>C) c.4948-29T>C (n.4948-29T>C) c.4669-29T>C (n.4669-29T>C) c.3712-29T>C (n.3712-29T>C) c.3703-29T>C (n.3703-29T>C) | gnomAD v4 |
| 5 | g.37022022T>G | CA2578289506 | NIPBL | c.5329-29T>G (n.5329-29T>G) c.1-42556T>G (n.1-42556T>G) c.4585-29T>G (n.4585-29T>G) c.5131-29T>G (n.5131-29T>G) c.4948-29T>G (n.4948-29T>G) c.4669-29T>G (n.4669-29T>G) c.3712-29T>G (n.3712-29T>G) c.3703-29T>G (n.3703-29T>G) | |
| 5 | g.37022024A= | CA1539587370 | NIPBL | c.5329-27A= (n.5329-27A=) c.1-42554A= (n.1-42554A=) c.4585-27A= (n.4585-27A=) c.5131-27A= (n.5131-27A=) c.4948-27A= (n.4948-27A=) c.4669-27A= (n.4669-27A=) c.3712-27A= (n.3712-27A=) c.3703-27A= (n.3703-27A=) | |
| 5 | g.37022024A>G | CA559016152 | NIPBL | c.5329-27A>G (n.5329-27A>G) c.1-42554A>G (n.1-42554A>G) c.4585-27A>G (n.4585-27A>G) c.5131-27A>G (n.5131-27A>G) c.4948-27A>G (n.4948-27A>G) c.4669-27A>G (n.4669-27A>G) c.3712-27A>G (n.3712-27A>G) c.3703-27A>G (n.3703-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37022025C>A | CA2673554085 | NIPBL | c.5329-26C>A (n.5329-26C>A) c.1-42553C>A (n.1-42553C>A) c.4585-26C>A (n.4585-26C>A) c.5131-26C>A (n.5131-26C>A) c.4948-26C>A (n.4948-26C>A) c.4669-26C>A (n.4669-26C>A) c.3712-26C>A (n.3712-26C>A) c.3703-26C>A (n.3703-26C>A) | gnomAD v4 |
| 5 | g.37022025_37022026delinsCA | CA1539587376 | NIPBL | c.5329-26_5329-25delinsCA (n.5329-26_5329-25delinsCA) c.1-42553_1-42552delinsCA (n.1-42553_1-42552delinsCA) c.4585-26_4585-25delinsCA (n.4585-26_4585-25delinsCA) c.5131-26_5131-25delinsCA (n.5131-26_5131-25delinsCA) c.4948-26_4948-25delinsCA (n.4948-26_4948-25delinsCA) c.4669-26_4669-25delinsCA (n.4669-26_4669-25delinsCA) c.3712-26_3712-25delinsCA (n.3712-26_3712-25delinsCA) c.3703-26_3703-25delinsCA (n.3703-26_3703-25delinsCA) | |
| 5 | g.37022030del | CA3236756 | NIPBL | c.5329-21del (n.5329-21del) c.1-42548del (n.1-42548del) c.4585-21del (n.4585-21del) c.5131-21del (n.5131-21del) c.4948-21del (n.4948-21del) c.4669-21del (n.4669-21del) c.3712-21del (n.3712-21del) c.3703-21del (n.3703-21del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37022030A>T | CA2765898554 | NIPBL | c.5329-21A>T (n.5329-21A>T) c.1-42548A>T (n.1-42548A>T) c.4585-21A>T (n.4585-21A>T) c.5131-21A>T (n.5131-21A>T) c.4948-21A>T (n.4948-21A>T) c.4669-21A>T (n.4669-21A>T) c.3712-21A>T (n.3712-21A>T) c.3703-21A>T (n.3703-21A>T) | |
| 5 | g.37022031T>C | CA559016155 | NIPBL | c.5329-20T>C (n.5329-20T>C) c.1-42547T>C (n.1-42547T>C) c.4585-20T>C (n.4585-20T>C) c.5131-20T>C (n.5131-20T>C) c.4948-20T>C (n.4948-20T>C) c.4669-20T>C (n.4669-20T>C) c.3712-20T>C (n.3712-20T>C) c.3703-20T>C (n.3703-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37022031T= | CA1539587381 | NIPBL | c.5329-20T= (n.5329-20T=) c.1-42547T= (n.1-42547T=) c.4585-20T= (n.4585-20T=) c.5131-20T= (n.5131-20T=) c.4948-20T= (n.4948-20T=) c.4669-20T= (n.4669-20T=) c.3712-20T= (n.3712-20T=) c.3703-20T= (n.3703-20T=) | |
| 5 | g.37022033_37022034delinsTC | CA1539587383 | NIPBL | c.5329-18_5329-17delinsTC (n.5329-18_5329-17delinsTC) c.1-42545_1-42544delinsTC (n.1-42545_1-42544delinsTC) c.4585-18_4585-17delinsTC (n.4585-18_4585-17delinsTC) c.5131-18_5131-17delinsTC (n.5131-18_5131-17delinsTC) c.4948-18_4948-17delinsTC (n.4948-18_4948-17delinsTC) c.4669-18_4669-17delinsTC (n.4669-18_4669-17delinsTC) c.3712-18_3712-17delinsTC (n.3712-18_3712-17delinsTC) c.3703-18_3703-17delinsTC (n.3703-18_3703-17delinsTC) | |
| 5 | g.37022034del | CA3236757 | NIPBL | c.5329-17del (n.5329-17del) c.1-42544del (n.1-42544del) c.4585-17del (n.4585-17del) c.5131-17del (n.5131-17del) c.4948-17del (n.4948-17del) c.4669-17del (n.4669-17del) c.3712-17del (n.3712-17del) c.3703-17del (n.3703-17del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37022034C>A | CA2673554093 | NIPBL | c.5329-17C>A (n.5329-17C>A) c.1-42544C>A (n.1-42544C>A) c.4585-17C>A (n.4585-17C>A) c.5131-17C>A (n.5131-17C>A) c.4948-17C>A (n.4948-17C>A) c.4669-17C>A (n.4669-17C>A) c.3712-17C>A (n.3712-17C>A) c.3703-17C>A (n.3703-17C>A) | gnomAD v4 |
| 5 | g.37022034C= | CA1539587392 | NIPBL | c.5329-17C= (n.5329-17C=) c.1-42544C= (n.1-42544C=) c.4585-17C= (n.4585-17C=) c.5131-17C= (n.5131-17C=) c.4948-17C= (n.4948-17C=) c.4669-17C= (n.4669-17C=) c.3712-17C= (n.3712-17C=) c.3703-17C= (n.3703-17C=) | |
| 5 | g.37022034C>T | CA810289227 | NIPBL | c.5329-17C>T (n.5329-17C>T) c.1-42544C>T (n.1-42544C>T) c.4585-17C>T (n.4585-17C>T) c.5131-17C>T (n.5131-17C>T) c.4948-17C>T (n.4948-17C>T) c.4669-17C>T (n.4669-17C>T) c.3712-17C>T (n.3712-17C>T) c.3703-17C>T (n.3703-17C>T) | dbSNP gnomAD v4 |
| 5 | g.37022036del | CA359489129 | NIPBL | c.5329-15del (n.5329-15del) c.1-42542del (n.1-42542del) c.4585-15del (n.4585-15del) c.5131-15del (n.5131-15del) c.4948-15del (n.4948-15del) c.4669-15del (n.4669-15del) c.3712-15del (n.3712-15del) c.3703-15del (n.3703-15del) | |
| 5 | g.37022036A= | CA1539587401 | NIPBL | c.5329-15A= (n.5329-15A=) c.1-42542A= (n.1-42542A=) c.4585-15A= (n.4585-15A=) c.5131-15A= (n.5131-15A=) c.4948-15A= (n.4948-15A=) c.4669-15A= (n.4669-15A=) c.3712-15A= (n.3712-15A=) c.3703-15A= (n.3703-15A=) | |
| 5 | g.37022036A>C | CA2673554100 | NIPBL | c.5329-15A>C (n.5329-15A>C) c.1-42542A>C (n.1-42542A>C) c.4585-15A>C (n.4585-15A>C) c.5131-15A>C (n.5131-15A>C) c.4948-15A>C (n.4948-15A>C) c.4669-15A>C (n.4669-15A>C) c.3712-15A>C (n.3712-15A>C) c.3703-15A>C (n.3703-15A>C) | gnomAD v4 |
| 5 | g.37022036A>G | CA172720 | NIPBL | c.5329-15A>G (n.5329-15A>G) c.1-42542A>G (n.1-42542A>G) c.4585-15A>G (n.4585-15A>G) c.5131-15A>G (n.5131-15A>G) c.4948-15A>G (n.4948-15A>G) c.4669-15A>G (n.4669-15A>G) c.3712-15A>G (n.3712-15A>G) c.3703-15A>G (n.3703-15A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37022036A>T | CA2765898557 | NIPBL | c.5329-15A>T (n.5329-15A>T) c.1-42542A>T (n.1-42542A>T) c.4585-15A>T (n.4585-15A>T) c.5131-15A>T (n.5131-15A>T) c.4948-15A>T (n.4948-15A>T) c.4669-15A>T (n.4669-15A>T) c.3712-15A>T (n.3712-15A>T) c.3703-15A>T (n.3703-15A>T) | |
| 5 | g.37022037T>C | CA2673554102 | NIPBL | c.5329-14T>C (n.5329-14T>C) c.1-42541T>C (n.1-42541T>C) c.4585-14T>C (n.4585-14T>C) c.5131-14T>C (n.5131-14T>C) c.4948-14T>C (n.4948-14T>C) c.4669-14T>C (n.4669-14T>C) c.3712-14T>C (n.3712-14T>C) c.3703-14T>C (n.3703-14T>C) | gnomAD v4 |
| 5 | g.37022040T>A | CA2578289513 | NIPBL | c.5329-11T>A (n.5329-11T>A) c.1-42538T>A (n.1-42538T>A) c.4585-11T>A (n.4585-11T>A) c.5131-11T>A (n.5131-11T>A) c.4948-11T>A (n.4948-11T>A) c.4669-11T>A (n.4669-11T>A) c.3712-11T>A (n.3712-11T>A) c.3703-11T>A (n.3703-11T>A) | |
| 5 | g.37022043_37022046del | CA2578289512 | NIPBL | c.5329-8_5329-5del (n.5329-8_5329-5del) c.1-42535_1-42532del (n.1-42535_1-42532del) c.4585-8_4585-5del (n.4585-8_4585-5del) c.5131-8_5131-5del (n.5131-8_5131-5del) c.4948-8_4948-5del (n.4948-8_4948-5del) c.4669-8_4669-5del (n.4669-8_4669-5del) c.3712-8_3712-5del (n.3712-8_3712-5del) c.3703-8_3703-5del (n.3703-8_3703-5del) | ClinVar gnomAD v4 |
| 5 | g.37022042G= | CA1539587404 | NIPBL | c.5329-9G= (n.5329-9G=) c.1-42536G= (n.1-42536G=) c.4585-9G= (n.4585-9G=) c.5131-9G= (n.5131-9G=) c.4948-9G= (n.4948-9G=) c.4669-9G= (n.4669-9G=) c.3712-9G= (n.3712-9G=) c.3703-9G= (n.3703-9G=) | |
| 5 | g.37022042G>T | CA1539587407 | NIPBL | c.5329-9G>T (n.5329-9G>T) c.1-42536G>T (n.1-42536G>T) c.4585-9G>T (n.4585-9G>T) c.5131-9G>T (n.5131-9G>T) c.4948-9G>T (n.4948-9G>T) c.4669-9G>T (n.4669-9G>T) c.3712-9G>T (n.3712-9G>T) c.3703-9G>T (n.3703-9G>T) | dbSNP gnomAD v4 |
| 5 | g.37022043C= | CA1539587411 | NIPBL | c.5329-8C= (n.5329-8C=) c.1-42535C= (n.1-42535C=) c.4585-8C= (n.4585-8C=) c.5131-8C= (n.5131-8C=) c.4948-8C= (n.4948-8C=) c.4669-8C= (n.4669-8C=) c.3712-8C= (n.3712-8C=) c.3703-8C= (n.3703-8C=) | |
| 5 | g.37022043C>T | CA1539587409 | NIPBL | c.5329-8C>T (n.5329-8C>T) c.1-42535C>T (n.1-42535C>T) c.4585-8C>T (n.4585-8C>T) c.5131-8C>T (n.5131-8C>T) c.4948-8C>T (n.4948-8C>T) c.4669-8C>T (n.4669-8C>T) c.3712-8C>T (n.3712-8C>T) c.3703-8C>T (n.3703-8C>T) | dbSNP |
| 5 | g.37022044T>G | CA1539587429 | NIPBL | c.5329-7T>G (n.5329-7T>G) c.1-42534T>G (n.1-42534T>G) c.4585-7T>G (n.4585-7T>G) c.5131-7T>G (n.5131-7T>G) c.4948-7T>G (n.4948-7T>G) c.4669-7T>G (n.4669-7T>G) c.3712-7T>G (n.3712-7T>G) c.3703-7T>G (n.3703-7T>G) | dbSNP gnomAD v4 |
| 5 | g.37022044T= | CA1539587422 | NIPBL | c.5329-7T= (n.5329-7T=) c.1-42534T= (n.1-42534T=) c.4585-7T= (n.4585-7T=) c.5131-7T= (n.5131-7T=) c.4948-7T= (n.4948-7T=) c.4669-7T= (n.4669-7T=) c.3712-7T= (n.3712-7T=) c.3703-7T= (n.3703-7T=) | |
| 5 | g.37022045T>G | CA2695204334 | NIPBL | c.5329-6T>G (n.5329-6T>G) c.1-42533T>G (n.1-42533T>G) c.4585-6T>G (n.4585-6T>G) c.5131-6T>G (n.5131-6T>G) c.4948-6T>G (n.4948-6T>G) c.4669-6T>G (n.4669-6T>G) c.3712-6T>G (n.3712-6T>G) c.3703-6T>G (n.3703-6T>G) | |
| 5 | g.37022046G>T | CA2673554105 | NIPBL | c.5329-5G>T (n.5329-5G>T) c.1-42532G>T (n.1-42532G>T) c.4585-5G>T (n.4585-5G>T) c.5131-5G>T (n.5131-5G>T) c.4948-5G>T (n.4948-5G>T) c.4669-5G>T (n.4669-5G>T) c.3712-5G>T (n.3712-5G>T) c.3703-5G>T (n.3703-5G>T) | gnomAD v4 |
| 5 | g.37022047G>A | CA2578289515 | NIPBL | c.5329-4G>A (n.5329-4G>A) c.1-42531G>A (n.1-42531G>A) c.4585-4G>A (n.4585-4G>A) c.5131-4G>A (n.5131-4G>A) c.4948-4G>A (n.4948-4G>A) c.4669-4G>A (n.4669-4G>A) c.3712-4G>A (n.3712-4G>A) c.3703-4G>A (n.3703-4G>A) | |
| 5 | g.37022048C= | CA1539587433 | NIPBL | c.5329-3C= (n.5329-3C=) c.1-42530C= (n.1-42530C=) c.4585-3C= (n.4585-3C=) c.5131-3C= (n.5131-3C=) c.4948-3C= (n.4948-3C=) c.4669-3C= (n.4669-3C=) c.3712-3C= (n.3712-3C=) c.3703-3C= (n.3703-3C=) | |
| 5 | g.37022048C>T | CA1539587436 | NIPBL | c.5329-3C>T (n.5329-3C>T) c.1-42530C>T (n.1-42530C>T) c.4585-3C>T (n.4585-3C>T) c.5131-3C>T (n.5131-3C>T) c.4948-3C>T (n.4948-3C>T) c.4669-3C>T (n.4669-3C>T) c.3712-3C>T (n.3712-3C>T) c.3703-3C>T (n.3703-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37022049A>C | CA359489132 | NIPBL | c.5329-2A>C (n.5329-2A>C) c.1-42529A>C (n.1-42529A>C) c.4585-2A>C (n.4585-2A>C) c.5131-2A>C (n.5131-2A>C) c.4948-2A>C (n.4948-2A>C) c.4669-2A>C (n.4669-2A>C) c.3712-2A>C (n.3712-2A>C) c.3703-2A>C (n.3703-2A>C) | |
| 5 | g.37022049A>G | CA359489133 | NIPBL | c.5329-2A>G (n.5329-2A>G) c.1-42529A>G (n.1-42529A>G) c.4585-2A>G (n.4585-2A>G) c.5131-2A>G (n.5131-2A>G) c.4948-2A>G (n.4948-2A>G) c.4669-2A>G (n.4669-2A>G) c.3712-2A>G (n.3712-2A>G) c.3703-2A>G (n.3703-2A>G) | |
| 5 | g.37022049A>T | CA359489137 | NIPBL | c.5329-2A>T (n.5329-2A>T) c.1-42529A>T (n.1-42529A>T) c.4585-2A>T (n.4585-2A>T) c.5131-2A>T (n.5131-2A>T) c.4948-2A>T (n.4948-2A>T) c.4669-2A>T (n.4669-2A>T) c.3712-2A>T (n.3712-2A>T) c.3703-2A>T (n.3703-2A>T) | |
| 5 | g.37022050G>A | CA359489143 | NIPBL | c.5329-1G>A (n.5329-1G>A) c.1-42528G>A (n.1-42528G>A) c.4585-1G>A (n.4585-1G>A) c.5131-1G>A (n.5131-1G>A) c.4948-1G>A (n.4948-1G>A) c.4669-1G>A (n.4669-1G>A) c.3712-1G>A (n.3712-1G>A) c.3703-1G>A (n.3703-1G>A) | |
| 5 | g.37022050G>C | CA272137 | NIPBL | c.5329-1G>C (n.5329-1G>C) c.1-42528G>C (n.1-42528G>C) c.4585-1G>C (n.4585-1G>C) c.5131-1G>C (n.5131-1G>C) c.4948-1G>C (n.4948-1G>C) c.4669-1G>C (n.4669-1G>C) c.3712-1G>C (n.3712-1G>C) c.3703-1G>C (n.3703-1G>C) | ClinVar dbSNP |
| 5 | g.37022050G= | CA1539587441 | NIPBL | c.5329-1G= (n.5329-1G=) c.1-42528G= (n.1-42528G=) c.4585-1G= (n.4585-1G=) c.5131-1G= (n.5131-1G=) c.4948-1G= (n.4948-1G=) c.4669-1G= (n.4669-1G=) c.3712-1G= (n.3712-1G=) c.3703-1G= (n.3703-1G=) | |
| 5 | g.37022050G>T | CA359489142 | NIPBL | c.5329-1G>T (n.5329-1G>T) c.1-42528G>T (n.1-42528G>T) c.4585-1G>T (n.4585-1G>T) c.5131-1G>T (n.5131-1G>T) c.4948-1G>T (n.4948-1G>T) c.4669-1G>T (n.4669-1G>T) c.3712-1G>T (n.3712-1G>T) c.3703-1G>T (n.3703-1G>T) | |
| 5 | g.37022051_37022149del | CA2695204335 | NIPBL | c.5329_5427del c.1-42527_1-42429del (n.1-42527_1-42429del) c.4585_4683del c.5131_5229del c.4948_5046del c.4669_4767del c.3712_3810del c.3703_3801del | |
| 5 | g.37022051A>C | CA359489144 | NIPBL | c.5329A>C (p.Ile1777Leu) c.1-42527A>C (n.1-42527A>C) c.4585A>C (p.Ile1529Leu) c.5131A>C (p.Ile1711Leu) c.4948A>C (p.Ile1650Leu) c.4669A>C (p.Ile1557Leu) c.3712A>C (p.Ile1238Leu) c.3703A>C (p.Ile1235Leu) | |
| 5 | g.37022051A>G | CA359489145 | NIPBL | c.5329A>G (p.Ile1777Val) c.1-42527A>G (n.1-42527A>G) c.4585A>G (p.Ile1529Val) c.5131A>G (p.Ile1711Val) c.4948A>G (p.Ile1650Val) c.4669A>G (p.Ile1557Val) c.3712A>G (p.Ile1238Val) c.3703A>G (p.Ile1235Val) | |
| 5 | g.37022051A>T | CA359489150 | NIPBL | c.5329A>T (p.Ile1777Phe) c.1-42527A>T (n.1-42527A>T) c.4585A>T (p.Ile1529Phe) c.5131A>T (p.Ile1711Phe) c.4948A>T (p.Ile1650Phe) c.4669A>T (p.Ile1557Phe) c.3712A>T (p.Ile1238Phe) c.3703A>T (p.Ile1235Phe) | |
| 5 | g.37022052T>A | CA359489153 | NIPBL | c.5330T>A (p.Ile1777Asn) c.1-42526T>A (n.1-42526T>A) c.4586T>A (p.Ile1529Asn) c.5132T>A (p.Ile1711Asn) c.4949T>A (p.Ile1650Asn) c.4670T>A (p.Ile1557Asn) c.3713T>A (p.Ile1238Asn) c.3704T>A (p.Ile1235Asn) | |
| 5 | g.37022052T>C | CA359489155 | NIPBL | c.5330T>C (p.Ile1777Thr) c.1-42526T>C (n.1-42526T>C) c.4586T>C (p.Ile1529Thr) c.5132T>C (p.Ile1711Thr) c.4949T>C (p.Ile1650Thr) c.4670T>C (p.Ile1557Thr) c.3713T>C (p.Ile1238Thr) c.3704T>C (p.Ile1235Thr) | |
| 5 | g.37022052T>G | CA272138 | NIPBL | c.5330T>G (p.Ile1777Ser) c.1-42526T>G (n.1-42526T>G) c.4586T>G (p.Ile1529Ser) c.5132T>G (p.Ile1711Ser) c.4949T>G (p.Ile1650Ser) c.4670T>G (p.Ile1557Ser) c.3713T>G (p.Ile1238Ser) c.3704T>G (p.Ile1235Ser) | ClinVar dbSNP |
| 5 | g.37022052T= | CA1539587450 | NIPBL | c.5330T= (p.Ile1777=) c.1-42526T= (n.1-42526T=) c.4586T= (p.Ile1529=) c.5132T= (p.Ile1711=) c.4949T= (p.Ile1650=) c.4670T= (p.Ile1557=) c.3713T= (p.Ile1238=) c.3704T= (p.Ile1235=) | |
| 5 | g.37022053C>A | CA443905241 | NIPBL | c.5331C>A (p.Ile1777=) c.1-42525C>A (n.1-42525C>A) c.4587C>A (p.Ile1529=) c.5133C>A (p.Ile1711=) c.4950C>A (p.Ile1650=) c.4671C>A (p.Ile1557=) c.3714C>A (p.Ile1238=) c.3705C>A (p.Ile1235=) | |
| 5 | g.37022053C>G | CA359489166 | NIPBL | c.5331C>G (p.Ile1777Met) c.1-42525C>G (n.1-42525C>G) c.4587C>G (p.Ile1529Met) c.5133C>G (p.Ile1711Met) c.4950C>G (p.Ile1650Met) c.4671C>G (p.Ile1557Met) c.3714C>G (p.Ile1238Met) c.3705C>G (p.Ile1235Met) | |
| 5 | g.37022053C>T | CA443905242 | NIPBL | c.5331C>T (p.Ile1777=) c.1-42525C>T (n.1-42525C>T) c.4587C>T (p.Ile1529=) c.5133C>T (p.Ile1711=) c.4950C>T (p.Ile1650=) c.4671C>T (p.Ile1557=) c.3714C>T (p.Ile1238=) c.3705C>T (p.Ile1235=) | |
| 5 | g.37022054C>A | CA359489168 | NIPBL | c.5332C>A (p.Leu1778Ile) c.1-42524C>A (n.1-42524C>A) c.4588C>A (p.Leu1530Ile) c.5134C>A (p.Leu1712Ile) c.4951C>A (p.Leu1651Ile) c.4672C>A (p.Leu1558Ile) c.3715C>A (p.Leu1239Ile) c.3706C>A (p.Leu1236Ile) | |
| 5 | g.37022054C= | CA1539587460 | NIPBL | c.5332C= (p.Leu1778=) c.1-42524C= (n.1-42524C=) c.4588C= (p.Leu1530=) c.5134C= (p.Leu1712=) c.4951C= (p.Leu1651=) c.4672C= (p.Leu1558=) c.3715C= (p.Leu1239=) c.3706C= (p.Leu1236=) | |
| 5 | g.37022054C>G | CA359489173 | NIPBL | c.5332C>G (p.Leu1778Val) c.1-42524C>G (n.1-42524C>G) c.4588C>G (p.Leu1530Val) c.5134C>G (p.Leu1712Val) c.4951C>G (p.Leu1651Val) c.4672C>G (p.Leu1558Val) c.3715C>G (p.Leu1239Val) c.3706C>G (p.Leu1236Val) | dbSNP gnomAD v4 |
| 5 | g.37022054C>T | CA443905243 | NIPBL | c.5332C>T (p.Leu1778=) c.1-42524C>T (n.1-42524C>T) c.4588C>T (p.Leu1530=) c.5134C>T (p.Leu1712=) c.4951C>T (p.Leu1651=) c.4672C>T (p.Leu1558=) c.3715C>T (p.Leu1239=) c.3706C>T (p.Leu1236=) | |
| 5 | g.37022055T>A | CA359489174 | NIPBL | c.5333T>A (p.Leu1778Gln) c.1-42523T>A (n.1-42523T>A) c.4589T>A (p.Leu1530Gln) c.5135T>A (p.Leu1712Gln) c.4952T>A (p.Leu1651Gln) c.4673T>A (p.Leu1558Gln) c.3716T>A (p.Leu1239Gln) c.3707T>A (p.Leu1236Gln) | |
| 5 | g.37022055T>C | CA359489176 | NIPBL | c.5333T>C (p.Leu1778Pro) c.1-42523T>C (n.1-42523T>C) c.4589T>C (p.Leu1530Pro) c.5135T>C (p.Leu1712Pro) c.4952T>C (p.Leu1651Pro) c.4673T>C (p.Leu1558Pro) c.3716T>C (p.Leu1239Pro) c.3707T>C (p.Leu1236Pro) | |
| 5 | g.37022055T>G | CA359489178 | NIPBL | c.5333T>G (p.Leu1778Arg) c.1-42523T>G (n.1-42523T>G) c.4589T>G (p.Leu1530Arg) c.5135T>G (p.Leu1712Arg) c.4952T>G (p.Leu1651Arg) c.4673T>G (p.Leu1558Arg) c.3716T>G (p.Leu1239Arg) c.3707T>G (p.Leu1236Arg) | |
| 5 | g.37022056A= | CA1539587466 | NIPBL | c.5334A= (p.Leu1778=) c.1-42522A= (n.1-42522A=) c.4590A= (p.Leu1530=) c.5136A= (p.Leu1712=) c.4953A= (p.Leu1651=) c.4674A= (p.Leu1558=) c.3717A= (p.Leu1239=) c.3708A= (p.Leu1236=) | |
| 5 | g.37022056A>C | CA443905244 | NIPBL | c.5334A>C (p.Leu1778=) c.1-42522A>C (n.1-42522A>C) c.4590A>C (p.Leu1530=) c.5136A>C (p.Leu1712=) c.4953A>C (p.Leu1651=) c.4674A>C (p.Leu1558=) c.3717A>C (p.Leu1239=) c.3708A>C (p.Leu1236=) | |
| 5 | g.37022056A>G | CA117028888 | NIPBL | c.5334A>G (p.Leu1778=) c.1-42522A>G (n.1-42522A>G) c.4590A>G (p.Leu1530=) c.5136A>G (p.Leu1712=) c.4953A>G (p.Leu1651=) c.4674A>G (p.Leu1558=) c.3717A>G (p.Leu1239=) c.3708A>G (p.Leu1236=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37022056A>T | CA443905245 | NIPBL | c.5334A>T (p.Leu1778=) c.1-42522A>T (n.1-42522A>T) c.4590A>T (p.Leu1530=) c.5136A>T (p.Leu1712=) c.4953A>T (p.Leu1651=) c.4674A>T (p.Leu1558=) c.3717A>T (p.Leu1239=) c.3708A>T (p.Leu1236=) | |
| 5 | g.37022057C>A | CA443905246 | NIPBL | c.5335C>A (p.Arg1779=) c.1-42521C>A (n.1-42521C>A) c.4591C>A (p.Arg1531=) c.5137C>A (p.Arg1713=) c.4954C>A (p.Arg1652=) c.4675C>A (p.Arg1559=) c.3718C>A (p.Arg1240=) c.3709C>A (p.Arg1237=) | |
| 5 | g.37022057C= | CA1539587474 | NIPBL | c.5335C= (p.Arg1779=) c.1-42521C= (n.1-42521C=) c.4591C= (p.Arg1531=) c.5137C= (p.Arg1713=) c.4954C= (p.Arg1652=) c.4675C= (p.Arg1559=) c.3718C= (p.Arg1240=) c.3709C= (p.Arg1237=) | |
| 5 | g.37022057C>G | CA359489180 | NIPBL | c.5335C>G (p.Arg1779Gly) c.1-42521C>G (n.1-42521C>G) c.4591C>G (p.Arg1531Gly) c.5137C>G (p.Arg1713Gly) c.4954C>G (p.Arg1652Gly) c.4675C>G (p.Arg1559Gly) c.3718C>G (p.Arg1240Gly) c.3709C>G (p.Arg1237Gly) | |
| 5 | g.37022057C>T | CA272141 | NIPBL | c.5335C>T (p.Arg1779Ter) c.1-42521C>T (n.1-42521C>T) c.4591C>T (p.Arg1531Ter) c.5137C>T (p.Arg1713Ter) c.4954C>T (p.Arg1652Ter) c.4675C>T (p.Arg1559Ter) c.3718C>T (p.Arg1240Ter) c.3709C>T (p.Arg1237Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37022058G>A | CA359489181 | NIPBL | c.5336G>A (p.Arg1779Gln) c.1-42520G>A (n.1-42520G>A) c.4592G>A (p.Arg1531Gln) c.5138G>A (p.Arg1713Gln) c.4955G>A (p.Arg1652Gln) c.4676G>A (p.Arg1559Gln) c.3719G>A (p.Arg1240Gln) c.3710G>A (p.Arg1237Gln) | ClinVar |
| 5 | g.37022058G>C | CA359489183 | NIPBL | c.5336G>C (p.Arg1779Pro) c.1-42520G>C (n.1-42520G>C) c.4592G>C (p.Arg1531Pro) c.5138G>C (p.Arg1713Pro) c.4955G>C (p.Arg1652Pro) c.4676G>C (p.Arg1559Pro) c.3719G>C (p.Arg1240Pro) c.3710G>C (p.Arg1237Pro) | |
| 5 | g.37022058G>T | CA359489182 | NIPBL | c.5336G>T (p.Arg1779Leu) c.1-42520G>T (n.1-42520G>T) c.4592G>T (p.Arg1531Leu) c.5138G>T (p.Arg1713Leu) c.4955G>T (p.Arg1652Leu) c.4676G>T (p.Arg1559Leu) c.3719G>T (p.Arg1240Leu) c.3710G>T (p.Arg1237Leu) | |
| 5 | g.37022059A>C | CA443905247 | NIPBL | c.5337A>C (p.Arg1779=) c.1-42519A>C (n.1-42519A>C) c.4593A>C (p.Arg1531=) c.5139A>C (p.Arg1713=) c.4956A>C (p.Arg1652=) c.4677A>C (p.Arg1559=) c.3720A>C (p.Arg1240=) c.3711A>C (p.Arg1237=) | gnomAD v4 |
| 5 | g.37022059A>G | CA443905248 | NIPBL | c.5337A>G (p.Arg1779=) c.1-42519A>G (n.1-42519A>G) c.4593A>G (p.Arg1531=) c.5139A>G (p.Arg1713=) c.4956A>G (p.Arg1652=) c.4677A>G (p.Arg1559=) c.3720A>G (p.Arg1240=) c.3711A>G (p.Arg1237=) | |
| 5 | g.37022059A>T | CA443905249 | NIPBL | c.5337A>T (p.Arg1779=) c.1-42519A>T (n.1-42519A>T) c.4593A>T (p.Arg1531=) c.5139A>T (p.Arg1713=) c.4956A>T (p.Arg1652=) c.4677A>T (p.Arg1559=) c.3720A>T (p.Arg1240=) c.3711A>T (p.Arg1237=) | |
| 5 | g.37022060G>A | CA359489185 | NIPBL | c.5338G>A (p.Val1780Ile) c.1-42518G>A (n.1-42518G>A) c.4594G>A (p.Val1532Ile) c.5140G>A (p.Val1714Ile) c.4957G>A (p.Val1653Ile) c.4678G>A (p.Val1560Ile) c.3721G>A (p.Val1241Ile) c.3712G>A (p.Val1238Ile) | |
| 5 | g.37022060G>C | CA359489188 | NIPBL | c.5338G>C (p.Val1780Leu) c.1-42518G>C (n.1-42518G>C) c.4594G>C (p.Val1532Leu) c.5140G>C (p.Val1714Leu) c.4957G>C (p.Val1653Leu) c.4678G>C (p.Val1560Leu) c.3721G>C (p.Val1241Leu) c.3712G>C (p.Val1238Leu) | |
| 5 | g.37022060G>T | CA359489187 | NIPBL | c.5338G>T (p.Val1780Phe) c.1-42518G>T (n.1-42518G>T) c.4594G>T (p.Val1532Phe) c.5140G>T (p.Val1714Phe) c.4957G>T (p.Val1653Phe) c.4678G>T (p.Val1560Phe) c.3721G>T (p.Val1241Phe) c.3712G>T (p.Val1238Phe) | |
| 5 | g.37022061T>A | CA359489189 | NIPBL | c.5339T>A (p.Val1780Asp) c.1-42517T>A (n.1-42517T>A) c.4595T>A (p.Val1532Asp) c.5141T>A (p.Val1714Asp) c.4958T>A (p.Val1653Asp) c.4679T>A (p.Val1560Asp) c.3722T>A (p.Val1241Asp) c.3713T>A (p.Val1238Asp) | |
| 5 | g.37022061T>C | CA359489194 | NIPBL | c.5339T>C (p.Val1780Ala) c.1-42517T>C (n.1-42517T>C) c.4595T>C (p.Val1532Ala) c.5141T>C (p.Val1714Ala) c.4958T>C (p.Val1653Ala) c.4679T>C (p.Val1560Ala) c.3722T>C (p.Val1241Ala) c.3713T>C (p.Val1238Ala) | |
| 5 | g.37022061T>G | CA359489190 | NIPBL | c.5339T>G (p.Val1780Gly) c.1-42517T>G (n.1-42517T>G) c.4595T>G (p.Val1532Gly) c.5141T>G (p.Val1714Gly) c.4958T>G (p.Val1653Gly) c.4679T>G (p.Val1560Gly) c.3722T>G (p.Val1241Gly) c.3713T>G (p.Val1238Gly) | |
| 5 | g.37022062T>A | CA443905252 | NIPBL | c.5340T>A (p.Val1780=) c.1-42516T>A (n.1-42516T>A) c.4596T>A (p.Val1532=) c.5142T>A (p.Val1714=) c.4959T>A (p.Val1653=) c.4680T>A (p.Val1560=) c.3723T>A (p.Val1241=) c.3714T>A (p.Val1238=) | |
| 5 | g.37022062T>C | CA443905251 | NIPBL | c.5340T>C (p.Val1780=) c.1-42516T>C (n.1-42516T>C) c.4596T>C (p.Val1532=) c.5142T>C (p.Val1714=) c.4959T>C (p.Val1653=) c.4680T>C (p.Val1560=) c.3723T>C (p.Val1241=) c.3714T>C (p.Val1238=) | |
| 5 | g.37022062T>G | CA443905250 | NIPBL | c.5340T>G (p.Val1780=) c.1-42516T>G (n.1-42516T>G) c.4596T>G (p.Val1532=) c.5142T>G (p.Val1714=) c.4959T>G (p.Val1653=) c.4680T>G (p.Val1560=) c.3723T>G (p.Val1241=) c.3714T>G (p.Val1238=) | |
| 5 | g.37022063C>A | CA359489195 | NIPBL | c.5341C>A (p.Leu1781Ile) c.1-42515C>A (n.1-42515C>A) c.4597C>A (p.Leu1533Ile) c.5143C>A (p.Leu1715Ile) c.4960C>A (p.Leu1654Ile) c.4681C>A (p.Leu1561Ile) c.3724C>A (p.Leu1242Ile) c.3715C>A (p.Leu1239Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37022063C= | CA1539587482 | NIPBL | c.5341C= (p.Leu1781=) c.1-42515C= (n.1-42515C=) c.4597C= (p.Leu1533=) c.5143C= (p.Leu1715=) c.4960C= (p.Leu1654=) c.4681C= (p.Leu1561=) c.3724C= (p.Leu1242=) c.3715C= (p.Leu1239=) | |
| 5 | g.37022063C>G | CA359489196 | NIPBL | c.5341C>G (p.Leu1781Val) c.1-42515C>G (n.1-42515C>G) c.4597C>G (p.Leu1533Val) c.5143C>G (p.Leu1715Val) c.4960C>G (p.Leu1654Val) c.4681C>G (p.Leu1561Val) c.3724C>G (p.Leu1242Val) c.3715C>G (p.Leu1239Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37022063C>T | CA359489198 | NIPBL | c.5341C>T (p.Leu1781Phe) c.1-42515C>T (n.1-42515C>T) c.4597C>T (p.Leu1533Phe) c.5143C>T (p.Leu1715Phe) c.4960C>T (p.Leu1654Phe) c.4681C>T (p.Leu1561Phe) c.3724C>T (p.Leu1242Phe) c.3715C>T (p.Leu1239Phe) | |
| 5 | g.37022064T>A | CA359489200 | NIPBL | c.5342T>A (p.Leu1781His) c.1-42514T>A (n.1-42514T>A) c.4598T>A (p.Leu1533His) c.5144T>A (p.Leu1715His) c.4961T>A (p.Leu1654His) c.4682T>A (p.Leu1561His) c.3725T>A (p.Leu1242His) c.3716T>A (p.Leu1239His) | |
| 5 | g.37022064T>C | CA359489202 | NIPBL | c.5342T>C (p.Leu1781Pro) c.1-42514T>C (n.1-42514T>C) c.4598T>C (p.Leu1533Pro) c.5144T>C (p.Leu1715Pro) c.4961T>C (p.Leu1654Pro) c.4682T>C (p.Leu1561Pro) c.3725T>C (p.Leu1242Pro) c.3716T>C (p.Leu1239Pro) | |
| 5 | g.37022064T>G | CA359489203 | NIPBL | c.5342T>G (p.Leu1781Arg) c.1-42514T>G (n.1-42514T>G) c.4598T>G (p.Leu1533Arg) c.5144T>G (p.Leu1715Arg) c.4961T>G (p.Leu1654Arg) c.4682T>G (p.Leu1561Arg) c.3725T>G (p.Leu1242Arg) c.3716T>G (p.Leu1239Arg) | |
| 5 | g.37022065T>A | CA443905253 | NIPBL | c.5343T>A (p.Leu1781=) c.1-42513T>A (n.1-42513T>A) c.4599T>A (p.Leu1533=) c.5145T>A (p.Leu1715=) c.4962T>A (p.Leu1654=) c.4683T>A (p.Leu1561=) c.3726T>A (p.Leu1242=) c.3717T>A (p.Leu1239=) | |
| 5 | g.37022065T>C | CA443905254 | NIPBL | c.5343T>C (p.Leu1781=) c.1-42513T>C (n.1-42513T>C) c.4599T>C (p.Leu1533=) c.5145T>C (p.Leu1715=) c.4962T>C (p.Leu1654=) c.4683T>C (p.Leu1561=) c.3726T>C (p.Leu1242=) c.3717T>C (p.Leu1239=) | gnomAD v4 |
| 5 | g.37022065T>G | CA443905255 | NIPBL | c.5343T>G (p.Leu1781=) c.1-42513T>G (n.1-42513T>G) c.4599T>G (p.Leu1533=) c.5145T>G (p.Leu1715=) c.4962T>G (p.Leu1654=) c.4683T>G (p.Leu1561=) c.3726T>G (p.Leu1242=) c.3717T>G (p.Leu1239=) | |
| 5 | g.37022066G>A | CA359489205 | NIPBL | c.5344G>A (p.Gly1782Ser) c.1-42512G>A (n.1-42512G>A) c.4600G>A (p.Gly1534Ser) c.5146G>A (p.Gly1716Ser) c.4963G>A (p.Gly1655Ser) c.4684G>A (p.Gly1562Ser) c.3727G>A (p.Gly1243Ser) c.3718G>A (p.Gly1240Ser) | |
| 5 | g.37022066G>C | CA359489206 | NIPBL | c.5344G>C (p.Gly1782Arg) c.1-42512G>C (n.1-42512G>C) c.4600G>C (p.Gly1534Arg) c.5146G>C (p.Gly1716Arg) c.4963G>C (p.Gly1655Arg) c.4684G>C (p.Gly1562Arg) c.3727G>C (p.Gly1243Arg) c.3718G>C (p.Gly1240Arg) | |
| 5 | g.37022066G>T | CA359489209 | NIPBL | c.5344G>T (p.Gly1782Cys) c.1-42512G>T (n.1-42512G>T) c.4600G>T (p.Gly1534Cys) c.5146G>T (p.Gly1716Cys) c.4963G>T (p.Gly1655Cys) c.4684G>T (p.Gly1562Cys) c.3727G>T (p.Gly1243Cys) c.3718G>T (p.Gly1240Cys) | |
| 5 | g.37022067G>A | CA359489220 | NIPBL | c.5345G>A (p.Gly1782Asp) c.1-42511G>A (n.1-42511G>A) c.4601G>A (p.Gly1534Asp) c.5147G>A (p.Gly1716Asp) c.4964G>A (p.Gly1655Asp) c.4685G>A (p.Gly1562Asp) c.3728G>A (p.Gly1243Asp) c.3719G>A (p.Gly1240Asp) | |
| 5 | g.37022067G>C | CA359489219 | NIPBL | c.5345G>C (p.Gly1782Ala) c.1-42511G>C (n.1-42511G>C) c.4601G>C (p.Gly1534Ala) c.5147G>C (p.Gly1716Ala) c.4964G>C (p.Gly1655Ala) c.4685G>C (p.Gly1562Ala) c.3728G>C (p.Gly1243Ala) c.3719G>C (p.Gly1240Ala) | ClinVar |
| 5 | g.37022067G>T | CA359489218 | NIPBL | c.5345G>T (p.Gly1782Val) c.1-42511G>T (n.1-42511G>T) c.4601G>T (p.Gly1534Val) c.5147G>T (p.Gly1716Val) c.4964G>T (p.Gly1655Val) c.4685G>T (p.Gly1562Val) c.3728G>T (p.Gly1243Val) c.3719G>T (p.Gly1240Val) | COSMIC COSMIC |
| 5 | g.37022068T>A | CA443905256 | NIPBL | c.5346T>A (p.Gly1782=) c.1-42510T>A (n.1-42510T>A) c.4602T>A (p.Gly1534=) c.5148T>A (p.Gly1716=) c.4965T>A (p.Gly1655=) c.4686T>A (p.Gly1562=) c.3729T>A (p.Gly1243=) c.3720T>A (p.Gly1240=) | |
| 5 | g.37022068T>C | CA443905258 | NIPBL | c.5346T>C (p.Gly1782=) c.1-42510T>C (n.1-42510T>C) c.4602T>C (p.Gly1534=) c.5148T>C (p.Gly1716=) c.4965T>C (p.Gly1655=) c.4686T>C (p.Gly1562=) c.3729T>C (p.Gly1243=) c.3720T>C (p.Gly1240=) | |
| 5 | g.37022068T>G | CA443905257 | NIPBL | c.5346T>G (p.Gly1782=) c.1-42510T>G (n.1-42510T>G) c.4602T>G (p.Gly1534=) c.5148T>G (p.Gly1716=) c.4965T>G (p.Gly1655=) c.4686T>G (p.Gly1562=) c.3729T>G (p.Gly1243=) c.3720T>G (p.Gly1240=) | |
| 5 | g.37022069G>A | CA359489221 | NIPBL | c.5347G>A (p.Glu1783Lys) c.1-42509G>A (n.1-42509G>A) c.4603G>A (p.Glu1535Lys) c.5149G>A (p.Glu1717Lys) c.4966G>A (p.Glu1656Lys) c.4687G>A (p.Glu1563Lys) c.3730G>A (p.Glu1244Lys) c.3721G>A (p.Glu1241Lys) | |
| 5 | g.37022069G>C | CA359489223 | NIPBL | c.5347G>C (p.Glu1783Gln) c.1-42509G>C (n.1-42509G>C) c.4603G>C (p.Glu1535Gln) c.5149G>C (p.Glu1717Gln) c.4966G>C (p.Glu1656Gln) c.4687G>C (p.Glu1563Gln) c.3730G>C (p.Glu1244Gln) c.3721G>C (p.Glu1241Gln) | |
| 5 | g.37022069G>T | CA359489226 | NIPBL | c.5347G>T (p.Glu1783Ter) c.1-42509G>T (n.1-42509G>T) c.4603G>T (p.Glu1535Ter) c.5149G>T (p.Glu1717Ter) c.4966G>T (p.Glu1656Ter) c.4687G>T (p.Glu1563Ter) c.3730G>T (p.Glu1244Ter) c.3721G>T (p.Glu1241Ter) | |
| 5 | g.37022070A>C | CA359489231 | NIPBL | c.5348A>C (p.Glu1783Ala) c.1-42508A>C (n.1-42508A>C) c.4604A>C (p.Glu1535Ala) c.5150A>C (p.Glu1717Ala) c.4967A>C (p.Glu1656Ala) c.4688A>C (p.Glu1563Ala) c.3731A>C (p.Glu1244Ala) c.3722A>C (p.Glu1241Ala) | |
| 5 | g.37022070A>G | CA359489234 | NIPBL | c.5348A>G (p.Glu1783Gly) c.1-42508A>G (n.1-42508A>G) c.4604A>G (p.Glu1535Gly) c.5150A>G (p.Glu1717Gly) c.4967A>G (p.Glu1656Gly) c.4688A>G (p.Glu1563Gly) c.3731A>G (p.Glu1244Gly) c.3722A>G (p.Glu1241Gly) | |
| 5 | g.37022070A>T | CA359489236 | NIPBL | c.5348A>T (p.Glu1783Val) c.1-42508A>T (n.1-42508A>T) c.4604A>T (p.Glu1535Val) c.5150A>T (p.Glu1717Val) c.4967A>T (p.Glu1656Val) c.4688A>T (p.Glu1563Val) c.3731A>T (p.Glu1244Val) c.3722A>T (p.Glu1241Val) | |
| 5 | g.37022071A>C | CA359489239 | NIPBL | c.5349A>C (p.Glu1783Asp) c.1-42507A>C (n.1-42507A>C) c.4605A>C (p.Glu1535Asp) c.5151A>C (p.Glu1717Asp) c.4968A>C (p.Glu1656Asp) c.4689A>C (p.Glu1563Asp) c.3732A>C (p.Glu1244Asp) c.3723A>C (p.Glu1241Asp) | |
| 5 | g.37022071A>G | CA443905260 | NIPBL | c.5349A>G (p.Glu1783=) c.1-42507A>G (n.1-42507A>G) c.4605A>G (p.Glu1535=) c.5151A>G (p.Glu1717=) c.4968A>G (p.Glu1656=) c.4689A>G (p.Glu1563=) c.3732A>G (p.Glu1244=) c.3723A>G (p.Glu1241=) | |
| 5 | g.37022071A>T | CA359489241 | NIPBL | c.5349A>T (p.Glu1783Asp) c.1-42507A>T (n.1-42507A>T) c.4605A>T (p.Glu1535Asp) c.5151A>T (p.Glu1717Asp) c.4968A>T (p.Glu1656Asp) c.4689A>T (p.Glu1563Asp) c.3732A>T (p.Glu1244Asp) c.3723A>T (p.Glu1241Asp) | |
| 5 | g.37022072A>C | CA359489243 | NIPBL | c.5350A>C (p.Asn1784His) c.1-42506A>C (n.1-42506A>C) c.4606A>C (p.Asn1536His) c.5152A>C (p.Asn1718His) c.4969A>C (p.Asn1657His) c.4690A>C (p.Asn1564His) c.3733A>C (p.Asn1245His) c.3724A>C (p.Asn1242His) | |
| 5 | g.37022072A>G | CA359489244 | NIPBL | c.5350A>G (p.Asn1784Asp) c.1-42506A>G (n.1-42506A>G) c.4606A>G (p.Asn1536Asp) c.5152A>G (p.Asn1718Asp) c.4969A>G (p.Asn1657Asp) c.4690A>G (p.Asn1564Asp) c.3733A>G (p.Asn1245Asp) c.3724A>G (p.Asn1242Asp) | |
| 5 | g.37022072A>T | CA359489246 | NIPBL | c.5350A>T (p.Asn1784Tyr) c.1-42506A>T (n.1-42506A>T) c.4606A>T (p.Asn1536Tyr) c.5152A>T (p.Asn1718Tyr) c.4969A>T (p.Asn1657Tyr) c.4690A>T (p.Asn1564Tyr) c.3733A>T (p.Asn1245Tyr) c.3724A>T (p.Asn1242Tyr) | |
| 5 | g.37022073A>C | CA359489253 | NIPBL | c.5351A>C (p.Asn1784Thr) c.1-42505A>C (n.1-42505A>C) c.4607A>C (p.Asn1536Thr) c.5153A>C (p.Asn1718Thr) c.4970A>C (p.Asn1657Thr) c.4691A>C (p.Asn1564Thr) c.3734A>C (p.Asn1245Thr) c.3725A>C (p.Asn1242Thr) | |
| 5 | g.37022073A>G | CA359489255 | NIPBL | c.5351A>G (p.Asn1784Ser) c.1-42505A>G (n.1-42505A>G) c.4607A>G (p.Asn1536Ser) c.5153A>G (p.Asn1718Ser) c.4970A>G (p.Asn1657Ser) c.4691A>G (p.Asn1564Ser) c.3734A>G (p.Asn1245Ser) c.3725A>G (p.Asn1242Ser) | |
| 5 | g.37022073A>T | CA359489250 | NIPBL | c.5351A>T (p.Asn1784Ile) c.1-42505A>T (n.1-42505A>T) c.4607A>T (p.Asn1536Ile) c.5153A>T (p.Asn1718Ile) c.4970A>T (p.Asn1657Ile) c.4691A>T (p.Asn1564Ile) c.3734A>T (p.Asn1245Ile) c.3725A>T (p.Asn1242Ile) | |
| 5 | g.37022074T>A | CA359489257 | NIPBL | c.5352T>A (p.Asn1784Lys) c.1-42504T>A (n.1-42504T>A) c.4608T>A (p.Asn1536Lys) c.5154T>A (p.Asn1718Lys) c.4971T>A (p.Asn1657Lys) c.4692T>A (p.Asn1564Lys) c.3735T>A (p.Asn1245Lys) c.3726T>A (p.Asn1242Lys) | |
| 5 | g.37022074T>C | CA443905263 | NIPBL | c.5352T>C (p.Asn1784=) c.1-42504T>C (n.1-42504T>C) c.4608T>C (p.Asn1536=) c.5154T>C (p.Asn1718=) c.4971T>C (p.Asn1657=) c.4692T>C (p.Asn1564=) c.3735T>C (p.Asn1245=) c.3726T>C (p.Asn1242=) | |
| 5 | g.37022074T>G | CA359489258 | NIPBL | c.5352T>G (p.Asn1784Lys) c.1-42504T>G (n.1-42504T>G) c.4608T>G (p.Asn1536Lys) c.5154T>G (p.Asn1718Lys) c.4971T>G (p.Asn1657Lys) c.4692T>G (p.Asn1564Lys) c.3735T>G (p.Asn1245Lys) c.3726T>G (p.Asn1242Lys) | |
| 5 | g.37022075G>A | CA359489265 | NIPBL | c.5353G>A (p.Ala1785Thr) c.1-42503G>A (n.1-42503G>A) c.4609G>A (p.Ala1537Thr) c.5155G>A (p.Ala1719Thr) c.4972G>A (p.Ala1658Thr) c.4693G>A (p.Ala1565Thr) c.3736G>A (p.Ala1246Thr) c.3727G>A (p.Ala1243Thr) | |
| 5 | g.37022075G>C | CA359489270 | NIPBL | c.5353G>C (p.Ala1785Pro) c.1-42503G>C (n.1-42503G>C) c.4609G>C (p.Ala1537Pro) c.5155G>C (p.Ala1719Pro) c.4972G>C (p.Ala1658Pro) c.4693G>C (p.Ala1565Pro) c.3736G>C (p.Ala1246Pro) c.3727G>C (p.Ala1243Pro) | |
| 5 | g.37022075G>T | CA359489271 | NIPBL | c.5353G>T (p.Ala1785Ser) c.1-42503G>T (n.1-42503G>T) c.4609G>T (p.Ala1537Ser) c.5155G>T (p.Ala1719Ser) c.4972G>T (p.Ala1658Ser) c.4693G>T (p.Ala1565Ser) c.3736G>T (p.Ala1246Ser) c.3727G>T (p.Ala1243Ser) | gnomAD v4 |
| 5 | g.37022076C>A | CA359489275 | NIPBL | c.5354C>A (p.Ala1785Glu) c.1-42502C>A (n.1-42502C>A) c.4610C>A (p.Ala1537Glu) c.5156C>A (p.Ala1719Glu) c.4973C>A (p.Ala1658Glu) c.4694C>A (p.Ala1565Glu) c.3737C>A (p.Ala1246Glu) c.3728C>A (p.Ala1243Glu) | |
| 5 | g.37022076C>G | CA359489289 | NIPBL | c.5354C>G (p.Ala1785Gly) c.1-42502C>G (n.1-42502C>G) c.4610C>G (p.Ala1537Gly) c.5156C>G (p.Ala1719Gly) c.4973C>G (p.Ala1658Gly) c.4694C>G (p.Ala1565Gly) c.3737C>G (p.Ala1246Gly) c.3728C>G (p.Ala1243Gly) | COSMIC COSMIC |
| 5 | g.37022076C>T | CA359489294 | NIPBL | c.5354C>T (p.Ala1785Val) c.1-42502C>T (n.1-42502C>T) c.4610C>T (p.Ala1537Val) c.5156C>T (p.Ala1719Val) c.4973C>T (p.Ala1658Val) c.4694C>T (p.Ala1565Val) c.3737C>T (p.Ala1246Val) c.3728C>T (p.Ala1243Val) | gnomAD v4 |
| 5 | g.37022076_37022077insG | CA2739289431 | NIPBL | c.5354_5355insG (p.Ile1786AsnfsTer13) c.1-42502_1-42501insG (n.1-42502_1-42501insG) c.4610_4611insG (p.Ile1538AsnfsTer13) c.5156_5157insG (p.Ile1720AsnfsTer13) c.4973_4974insG (p.Ile1659AsnfsTer13) c.4694_4695insG (p.Ile1566AsnfsTer13) c.3737_3738insG (p.Ile1247AsnfsTer13) c.3728_3729insG (p.Ile1244AsnfsTer13) | |
| 5 | g.37022077A>C | CA443905264 | NIPBL | c.5355A>C (p.Ala1785=) c.1-42501A>C (n.1-42501A>C) c.4611A>C (p.Ala1537=) c.5157A>C (p.Ala1719=) c.4974A>C (p.Ala1658=) c.4695A>C (p.Ala1565=) c.3738A>C (p.Ala1246=) c.3729A>C (p.Ala1243=) | |
| 5 | g.37022077A>G | CA443905266 | NIPBL | c.5355A>G (p.Ala1785=) c.1-42501A>G (n.1-42501A>G) c.4611A>G (p.Ala1537=) c.5157A>G (p.Ala1719=) c.4974A>G (p.Ala1658=) c.4695A>G (p.Ala1565=) c.3738A>G (p.Ala1246=) c.3729A>G (p.Ala1243=) | |
| 5 | g.37022077A>T | CA443905267 | NIPBL | c.5355A>T (p.Ala1785=) c.1-42501A>T (n.1-42501A>T) c.4611A>T (p.Ala1537=) c.5157A>T (p.Ala1719=) c.4974A>T (p.Ala1658=) c.4695A>T (p.Ala1565=) c.3738A>T (p.Ala1246=) c.3729A>T (p.Ala1243=) | |
| 5 | g.37022078A>C | CA359489298 | NIPBL | c.5356A>C (p.Ile1786Leu) c.1-42500A>C (n.1-42500A>C) c.4612A>C (p.Ile1538Leu) c.5158A>C (p.Ile1720Leu) c.4975A>C (p.Ile1659Leu) c.4696A>C (p.Ile1566Leu) c.3739A>C (p.Ile1247Leu) c.3730A>C (p.Ile1244Leu) | |
| 5 | g.37022078A>G | CA359489309 | NIPBL | c.5356A>G (p.Ile1786Val) c.1-42500A>G (n.1-42500A>G) c.4612A>G (p.Ile1538Val) c.5158A>G (p.Ile1720Val) c.4975A>G (p.Ile1659Val) c.4696A>G (p.Ile1566Val) c.3739A>G (p.Ile1247Val) c.3730A>G (p.Ile1244Val) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37022078A>T | CA359489319 | NIPBL | c.5356A>T (p.Ile1786Phe) c.1-42500A>T (n.1-42500A>T) c.4612A>T (p.Ile1538Phe) c.5158A>T (p.Ile1720Phe) c.4975A>T (p.Ile1659Phe) c.4696A>T (p.Ile1566Phe) c.3739A>T (p.Ile1247Phe) c.3730A>T (p.Ile1244Phe) | |
| 5 | g.37022079T>A | CA359489330 | NIPBL | c.5357T>A (p.Ile1786Asn) c.1-42499T>A (n.1-42499T>A) c.4613T>A (p.Ile1538Asn) c.5159T>A (p.Ile1720Asn) c.4976T>A (p.Ile1659Asn) c.4697T>A (p.Ile1566Asn) c.3740T>A (p.Ile1247Asn) c.3731T>A (p.Ile1244Asn) | |
| 5 | g.37022079T>C | CA359489326 | NIPBL | c.5357T>C (p.Ile1786Thr) c.1-42499T>C (n.1-42499T>C) c.4613T>C (p.Ile1538Thr) c.5159T>C (p.Ile1720Thr) c.4976T>C (p.Ile1659Thr) c.4697T>C (p.Ile1566Thr) c.3740T>C (p.Ile1247Thr) c.3731T>C (p.Ile1244Thr) | |
| 5 | g.37022079T>G | CA359489323 | NIPBL | c.5357T>G (p.Ile1786Ser) c.1-42499T>G (n.1-42499T>G) c.4613T>G (p.Ile1538Ser) c.5159T>G (p.Ile1720Ser) c.4976T>G (p.Ile1659Ser) c.4697T>G (p.Ile1566Ser) c.3740T>G (p.Ile1247Ser) c.3731T>G (p.Ile1244Ser) | |
| 5 | g.37022080T>A | CA443905269 | NIPBL | c.5358T>A (p.Ile1786=) c.1-42498T>A (n.1-42498T>A) c.4614T>A (p.Ile1538=) c.5160T>A (p.Ile1720=) c.4977T>A (p.Ile1659=) c.4698T>A (p.Ile1566=) c.3741T>A (p.Ile1247=) c.3732T>A (p.Ile1244=) | |
| 5 | g.37022080T>C | CA443905270 | NIPBL | c.5358T>C (p.Ile1786=) c.1-42498T>C (n.1-42498T>C) c.4614T>C (p.Ile1538=) c.5160T>C (p.Ile1720=) c.4977T>C (p.Ile1659=) c.4698T>C (p.Ile1566=) c.3741T>C (p.Ile1247=) c.3732T>C (p.Ile1244=) | gnomAD v4 |
| 5 | g.37022080T>G | CA359489345 | NIPBL | c.5358T>G (p.Ile1786Met) c.1-42498T>G (n.1-42498T>G) c.4614T>G (p.Ile1538Met) c.5160T>G (p.Ile1720Met) c.4977T>G (p.Ile1659Met) c.4698T>G (p.Ile1566Met) c.3741T>G (p.Ile1247Met) c.3732T>G (p.Ile1244Met) | |
| 5 | g.37022081G>A | CA359489348 | NIPBL | c.5359G>A (p.Ala1787Thr) c.1-42497G>A (n.1-42497G>A) c.4615G>A (p.Ala1539Thr) c.5161G>A (p.Ala1721Thr) c.4978G>A (p.Ala1660Thr) c.4699G>A (p.Ala1567Thr) c.3742G>A (p.Ala1248Thr) c.3733G>A (p.Ala1245Thr) | |
| 5 | g.37022081G>C | CA359489349 | NIPBL | c.5359G>C (p.Ala1787Pro) c.1-42497G>C (n.1-42497G>C) c.4615G>C (p.Ala1539Pro) c.5161G>C (p.Ala1721Pro) c.4978G>C (p.Ala1660Pro) c.4699G>C (p.Ala1567Pro) c.3742G>C (p.Ala1248Pro) c.3733G>C (p.Ala1245Pro) | |
| 5 | g.37022081G>T | CA359489350 | NIPBL | c.5359G>T (p.Ala1787Ser) c.1-42497G>T (n.1-42497G>T) c.4615G>T (p.Ala1539Ser) c.5161G>T (p.Ala1721Ser) c.4978G>T (p.Ala1660Ser) c.4699G>T (p.Ala1567Ser) c.3742G>T (p.Ala1248Ser) c.3733G>T (p.Ala1245Ser) | |
| 5 | g.37022082C>A | CA359489351 | NIPBL | c.5360C>A (p.Ala1787Asp) c.1-42496C>A (n.1-42496C>A) c.4616C>A (p.Ala1539Asp) c.5162C>A (p.Ala1721Asp) c.4979C>A (p.Ala1660Asp) c.4700C>A (p.Ala1567Asp) c.3743C>A (p.Ala1248Asp) c.3734C>A (p.Ala1245Asp) | |
| 5 | g.37022082C>G | CA359489352 | NIPBL | c.5360C>G (p.Ala1787Gly) c.1-42496C>G (n.1-42496C>G) c.4616C>G (p.Ala1539Gly) c.5162C>G (p.Ala1721Gly) c.4979C>G (p.Ala1660Gly) c.4700C>G (p.Ala1567Gly) c.3743C>G (p.Ala1248Gly) c.3734C>G (p.Ala1245Gly) | |
| 5 | g.37022082C>T | CA359489354 | NIPBL | c.5360C>T (p.Ala1787Val) c.1-42496C>T (n.1-42496C>T) c.4616C>T (p.Ala1539Val) c.5162C>T (p.Ala1721Val) c.4979C>T (p.Ala1660Val) c.4700C>T (p.Ala1567Val) c.3743C>T (p.Ala1248Val) c.3734C>T (p.Ala1245Val) | |
| 5 | g.37022083T>A | CA117028889 | NIPBL | c.5361T>A (p.Ala1787=) c.1-42495T>A (n.1-42495T>A) c.4617T>A (p.Ala1539=) c.5163T>A (p.Ala1721=) c.4980T>A (p.Ala1660=) c.4701T>A (p.Ala1567=) c.3744T>A (p.Ala1248=) c.3735T>A (p.Ala1245=) | dbSNP |
| 5 | g.37022083T>C | CA443905272 | NIPBL | c.5361T>C (p.Ala1787=) c.1-42495T>C (n.1-42495T>C) c.4617T>C (p.Ala1539=) c.5163T>C (p.Ala1721=) c.4980T>C (p.Ala1660=) c.4701T>C (p.Ala1567=) c.3744T>C (p.Ala1248=) c.3735T>C (p.Ala1245=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37022083T>G | CA443905273 | NIPBL | c.5361T>G (p.Ala1787=) c.1-42495T>G (n.1-42495T>G) c.4617T>G (p.Ala1539=) c.5163T>G (p.Ala1721=) c.4980T>G (p.Ala1660=) c.4701T>G (p.Ala1567=) c.3744T>G (p.Ala1248=) c.3735T>G (p.Ala1245=) | |
| 5 | g.37022083T= | CA1539587488 | NIPBL | c.5361T= (p.Ala1787=) c.1-42495T= (n.1-42495T=) c.4617T= (p.Ala1539=) c.5163T= (p.Ala1721=) c.4980T= (p.Ala1660=) c.4701T= (p.Ala1567=) c.3744T= (p.Ala1248=) c.3735T= (p.Ala1245=) | |
| 5 | g.37022084G>A | CA359489358 | NIPBL | c.5362G>A (p.Val1788Ile) c.1-42494G>A (n.1-42494G>A) c.4618G>A (p.Val1540Ile) c.5164G>A (p.Val1722Ile) c.4981G>A (p.Val1661Ile) c.4702G>A (p.Val1568Ile) c.3745G>A (p.Val1249Ile) c.3736G>A (p.Val1246Ile) | |
| 5 | g.37022084G>C | CA359489367 | NIPBL | c.5362G>C (p.Val1788Leu) c.1-42494G>C (n.1-42494G>C) c.4618G>C (p.Val1540Leu) c.5164G>C (p.Val1722Leu) c.4981G>C (p.Val1661Leu) c.4702G>C (p.Val1568Leu) c.3745G>C (p.Val1249Leu) c.3736G>C (p.Val1246Leu) | |
| 5 | g.37022084G>T | CA359489369 | NIPBL | c.5362G>T (p.Val1788Phe) c.1-42494G>T (n.1-42494G>T) c.4618G>T (p.Val1540Phe) c.5164G>T (p.Val1722Phe) c.4981G>T (p.Val1661Phe) c.4702G>T (p.Val1568Phe) c.3745G>T (p.Val1249Phe) c.3736G>T (p.Val1246Phe) | |
| 5 | g.37022085T>A | CA359489372 | NIPBL | c.5363T>A (p.Val1788Asp) c.1-42493T>A (n.1-42493T>A) c.4619T>A (p.Val1540Asp) c.5165T>A (p.Val1722Asp) c.4982T>A (p.Val1661Asp) c.4703T>A (p.Val1568Asp) c.3746T>A (p.Val1249Asp) c.3737T>A (p.Val1246Asp) | |
| 5 | g.37022085T>C | CA359489375 | NIPBL | c.5363T>C (p.Val1788Ala) c.1-42493T>C (n.1-42493T>C) c.4619T>C (p.Val1540Ala) c.5165T>C (p.Val1722Ala) c.4982T>C (p.Val1661Ala) c.4703T>C (p.Val1568Ala) c.3746T>C (p.Val1249Ala) c.3737T>C (p.Val1246Ala) | gnomAD v4 |
| 5 | g.37022085T>G | CA359489379 | NIPBL | c.5363T>G (p.Val1788Gly) c.1-42493T>G (n.1-42493T>G) c.4619T>G (p.Val1540Gly) c.5165T>G (p.Val1722Gly) c.4982T>G (p.Val1661Gly) c.4703T>G (p.Val1568Gly) c.3746T>G (p.Val1249Gly) c.3737T>G (p.Val1246Gly) | |
| 5 | g.37022086T>A | CA443905275 | NIPBL | c.5364T>A (p.Val1788=) c.1-42492T>A (n.1-42492T>A) c.4620T>A (p.Val1540=) c.5166T>A (p.Val1722=) c.4983T>A (p.Val1661=) c.4704T>A (p.Val1568=) c.3747T>A (p.Val1249=) c.3738T>A (p.Val1246=) | |
| 5 | g.37022086T>C | CA443905276 | NIPBL | c.5364T>C (p.Val1788=) c.1-42492T>C (n.1-42492T>C) c.4620T>C (p.Val1540=) c.5166T>C (p.Val1722=) c.4983T>C (p.Val1661=) c.4704T>C (p.Val1568=) c.3747T>C (p.Val1249=) c.3738T>C (p.Val1246=) | |
| 5 | g.37022086T>G | CA443905277 | NIPBL | c.5364T>G (p.Val1788=) c.1-42492T>G (n.1-42492T>G) c.4620T>G (p.Val1540=) c.5166T>G (p.Val1722=) c.4983T>G (p.Val1661=) c.4704T>G (p.Val1568=) c.3747T>G (p.Val1249=) c.3738T>G (p.Val1246=) | |
| 5 | g.37022087C>A | CA443905278 | NIPBL | c.5365C>A (p.Arg1789=) c.1-42491C>A (n.1-42491C>A) c.4621C>A (p.Arg1541=) c.5167C>A (p.Arg1723=) c.4984C>A (p.Arg1662=) c.4705C>A (p.Arg1569=) c.3748C>A (p.Arg1250=) c.3739C>A (p.Arg1247=) | |
| 5 | g.37022087C= | CA1539587494 | NIPBL | c.5365C= (p.Arg1789=) c.1-42491C= (n.1-42491C=) c.4621C= (p.Arg1541=) c.5167C= (p.Arg1723=) c.4984C= (p.Arg1662=) c.4705C= (p.Arg1569=) c.3748C= (p.Arg1250=) c.3739C= (p.Arg1247=) | |
| 5 | g.37022087C>G | CA359489385 | NIPBL | c.5365C>G (p.Arg1789Gly) c.1-42491C>G (n.1-42491C>G) c.4621C>G (p.Arg1541Gly) c.5167C>G (p.Arg1723Gly) c.4984C>G (p.Arg1662Gly) c.4705C>G (p.Arg1569Gly) c.3748C>G (p.Arg1250Gly) c.3739C>G (p.Arg1247Gly) | |
| 5 | g.37022087C>T | CA272144 | NIPBL | c.5365C>T (p.Arg1789Ter) c.1-42491C>T (n.1-42491C>T) c.4621C>T (p.Arg1541Ter) c.5167C>T (p.Arg1723Ter) c.4984C>T (p.Arg1662Ter) c.4705C>T (p.Arg1569Ter) c.3748C>T (p.Arg1250Ter) c.3739C>T (p.Arg1247Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37022088G>A | CA267541 | NIPBL | c.5366G>A (p.Arg1789Gln) c.1-42490G>A (n.1-42490G>A) c.4622G>A (p.Arg1541Gln) c.5168G>A (p.Arg1723Gln) c.4985G>A (p.Arg1662Gln) c.4706G>A (p.Arg1569Gln) c.3749G>A (p.Arg1250Gln) c.3740G>A (p.Arg1247Gln) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37022088G>C | CA359489393 | NIPBL | c.5366G>C (p.Arg1789Pro) c.1-42490G>C (n.1-42490G>C) c.4622G>C (p.Arg1541Pro) c.5168G>C (p.Arg1723Pro) c.4985G>C (p.Arg1662Pro) c.4706G>C (p.Arg1569Pro) c.3749G>C (p.Arg1250Pro) c.3740G>C (p.Arg1247Pro) | |
| 5 | g.37022088G= | CA1539587502 | NIPBL | c.5366G= (p.Arg1789=) c.1-42490G= (n.1-42490G=) c.4622G= (p.Arg1541=) c.5168G= (p.Arg1723=) c.4985G= (p.Arg1662=) c.4706G= (p.Arg1569=) c.3749G= (p.Arg1250=) c.3740G= (p.Arg1247=) | |
| 5 | g.37022088G>T | CA359489398 | NIPBL | c.5366G>T (p.Arg1789Leu) c.1-42490G>T (n.1-42490G>T) c.4622G>T (p.Arg1541Leu) c.5168G>T (p.Arg1723Leu) c.4985G>T (p.Arg1662Leu) c.4706G>T (p.Arg1569Leu) c.3749G>T (p.Arg1250Leu) c.3740G>T (p.Arg1247Leu) | COSMIC COSMIC |
| 5 | g.37022089A>C | CA443905279 | NIPBL | c.5367A>C (p.Arg1789=) c.1-42489A>C (n.1-42489A>C) c.4623A>C (p.Arg1541=) c.5169A>C (p.Arg1723=) c.4986A>C (p.Arg1662=) c.4707A>C (p.Arg1569=) c.3750A>C (p.Arg1250=) c.3741A>C (p.Arg1247=) | |
| 5 | g.37022089A>G | CA443905280 | NIPBL | c.5367A>G (p.Arg1789=) c.1-42489A>G (n.1-42489A>G) c.4623A>G (p.Arg1541=) c.5169A>G (p.Arg1723=) c.4986A>G (p.Arg1662=) c.4707A>G (p.Arg1569=) c.3750A>G (p.Arg1250=) c.3741A>G (p.Arg1247=) | |
| 5 | g.37022089A>T | CA443905281 | NIPBL | c.5367A>T (p.Arg1789=) c.1-42489A>T (n.1-42489A>T) c.4623A>T (p.Arg1541=) c.5169A>T (p.Arg1723=) c.4986A>T (p.Arg1662=) c.4707A>T (p.Arg1569=) c.3750A>T (p.Arg1250=) c.3741A>T (p.Arg1247=) | |
| 5 | g.37022090A>C | CA359489400 | NIPBL | c.5368A>C (p.Thr1790Pro) c.1-42488A>C (n.1-42488A>C) c.4624A>C (p.Thr1542Pro) c.5170A>C (p.Thr1724Pro) c.4987A>C (p.Thr1663Pro) c.4708A>C (p.Thr1570Pro) c.3751A>C (p.Thr1251Pro) c.3742A>C (p.Thr1248Pro) | |
| 5 | g.37022090A>G | CA359489403 | NIPBL | c.5368A>G (p.Thr1790Ala) c.1-42488A>G (n.1-42488A>G) c.4624A>G (p.Thr1542Ala) c.5170A>G (p.Thr1724Ala) c.4987A>G (p.Thr1663Ala) c.4708A>G (p.Thr1570Ala) c.3751A>G (p.Thr1251Ala) c.3742A>G (p.Thr1248Ala) | gnomAD v4 |
| 5 | g.37022090A>T | CA359489404 | NIPBL | c.5368A>T (p.Thr1790Ser) c.1-42488A>T (n.1-42488A>T) c.4624A>T (p.Thr1542Ser) c.5170A>T (p.Thr1724Ser) c.4987A>T (p.Thr1663Ser) c.4708A>T (p.Thr1570Ser) c.3751A>T (p.Thr1251Ser) c.3742A>T (p.Thr1248Ser) | |
| 5 | g.37022091C>A | CA359489406 | NIPBL | c.5369C>A (p.Thr1790Lys) c.1-42487C>A (n.1-42487C>A) c.4625C>A (p.Thr1542Lys) c.5171C>A (p.Thr1724Lys) c.4988C>A (p.Thr1663Lys) c.4709C>A (p.Thr1570Lys) c.3752C>A (p.Thr1251Lys) c.3743C>A (p.Thr1248Lys) | |
| 5 | g.37022091C>G | CA359489410 | NIPBL | c.5369C>G (p.Thr1790Arg) c.1-42487C>G (n.1-42487C>G) c.4625C>G (p.Thr1542Arg) c.5171C>G (p.Thr1724Arg) c.4988C>G (p.Thr1663Arg) c.4709C>G (p.Thr1570Arg) c.3752C>G (p.Thr1251Arg) c.3743C>G (p.Thr1248Arg) | |
| 5 | g.37022091C>T | CA359489412 | NIPBL | c.5369C>T (p.Thr1790Ile) c.1-42487C>T (n.1-42487C>T) c.4625C>T (p.Thr1542Ile) c.5171C>T (p.Thr1724Ile) c.4988C>T (p.Thr1663Ile) c.4709C>T (p.Thr1570Ile) c.3752C>T (p.Thr1251Ile) c.3743C>T (p.Thr1248Ile) | |
| 5 | g.37022092A= | CA1539587511 | NIPBL | c.5370A= (p.Thr1790=) c.1-42486A= (n.1-42486A=) c.4626A= (p.Thr1542=) c.5172A= (p.Thr1724=) c.4989A= (p.Thr1663=) c.4710A= (p.Thr1570=) c.3753A= (p.Thr1251=) c.3744A= (p.Thr1248=) | |
| 5 | g.37022092A>C | CA443905283 | NIPBL | c.5370A>C (p.Thr1790=) c.1-42486A>C (n.1-42486A>C) c.4626A>C (p.Thr1542=) c.5172A>C (p.Thr1724=) c.4989A>C (p.Thr1663=) c.4710A>C (p.Thr1570=) c.3753A>C (p.Thr1251=) c.3744A>C (p.Thr1248=) | gnomAD v4 |
| 5 | g.37022092A>G | CA3236758 | NIPBL | c.5370A>G (p.Thr1790=) c.1-42486A>G (n.1-42486A>G) c.4626A>G (p.Thr1542=) c.5172A>G (p.Thr1724=) c.4989A>G (p.Thr1663=) c.4710A>G (p.Thr1570=) c.3753A>G (p.Thr1251=) c.3744A>G (p.Thr1248=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37022092A>T | CA443905284 | NIPBL | c.5370A>T (p.Thr1790=) c.1-42486A>T (n.1-42486A>T) c.4626A>T (p.Thr1542=) c.5172A>T (p.Thr1724=) c.4989A>T (p.Thr1663=) c.4710A>T (p.Thr1570=) c.3753A>T (p.Thr1251=) c.3744A>T (p.Thr1248=) | |
| 5 | g.37022093A>C | CA359489418 | NIPBL | c.5371A>C (p.Lys1791Gln) c.1-42485A>C (n.1-42485A>C) c.4627A>C (p.Lys1543Gln) c.5173A>C (p.Lys1725Gln) c.4990A>C (p.Lys1664Gln) c.4711A>C (p.Lys1571Gln) c.3754A>C (p.Lys1252Gln) c.3745A>C (p.Lys1249Gln) | |
| 5 | g.37022093A>G | CA359489428 | NIPBL | c.5371A>G (p.Lys1791Glu) c.1-42485A>G (n.1-42485A>G) c.4627A>G (p.Lys1543Glu) c.5173A>G (p.Lys1725Glu) c.4990A>G (p.Lys1664Glu) c.4711A>G (p.Lys1571Glu) c.3754A>G (p.Lys1252Glu) c.3745A>G (p.Lys1249Glu) | |
| 5 | g.37022093A>T | CA359489432 | NIPBL | c.5371A>T (p.Lys1791Ter) c.1-42485A>T (n.1-42485A>T) c.4627A>T (p.Lys1543Ter) c.5173A>T (p.Lys1725Ter) c.4990A>T (p.Lys1664Ter) c.4711A>T (p.Lys1571Ter) c.3754A>T (p.Lys1252Ter) c.3745A>T (p.Lys1249Ter) | |
| 5 | g.37022094A= | CA1539587518 | NIPBL | c.5372A= (p.Lys1791=) c.1-42484A= (n.1-42484A=) c.4628A= (p.Lys1543=) c.5174A= (p.Lys1725=) c.4991A= (p.Lys1664=) c.4712A= (p.Lys1571=) c.3755A= (p.Lys1252=) c.3746A= (p.Lys1249=) | |
| 5 | g.37022094A>C | CA359489435 | NIPBL | c.5372A>C (p.Lys1791Thr) c.1-42484A>C (n.1-42484A>C) c.4628A>C (p.Lys1543Thr) c.5174A>C (p.Lys1725Thr) c.4991A>C (p.Lys1664Thr) c.4712A>C (p.Lys1571Thr) c.3755A>C (p.Lys1252Thr) c.3746A>C (p.Lys1249Thr) | |
| 5 | g.37022094A>G | CA359489434 | NIPBL | c.5372A>G (p.Lys1791Arg) c.1-42484A>G (n.1-42484A>G) c.4628A>G (p.Lys1543Arg) c.5174A>G (p.Lys1725Arg) c.4991A>G (p.Lys1664Arg) c.4712A>G (p.Lys1571Arg) c.3755A>G (p.Lys1252Arg) c.3746A>G (p.Lys1249Arg) | ClinVar dbSNP gnomAD v2 |
| 5 | g.37022094A>T | CA359489433 | NIPBL | c.5372A>T (p.Lys1791Ile) c.1-42484A>T (n.1-42484A>T) c.4628A>T (p.Lys1543Ile) c.5174A>T (p.Lys1725Ile) c.4991A>T (p.Lys1664Ile) c.4712A>T (p.Lys1571Ile) c.3755A>T (p.Lys1252Ile) c.3746A>T (p.Lys1249Ile) | |
| 5 | g.37022095A= | CA1539587524 | NIPBL | c.5373A= (p.Lys1791=) c.1-42483A= (n.1-42483A=) c.4629A= (p.Lys1543=) c.5175A= (p.Lys1725=) c.4992A= (p.Lys1664=) c.4713A= (p.Lys1571=) c.3756A= (p.Lys1252=) c.3747A= (p.Lys1249=) | |
| 5 | g.37022095A>C | CA359489438 | NIPBL | c.5373A>C (p.Lys1791Asn) c.1-42483A>C (n.1-42483A>C) c.4629A>C (p.Lys1543Asn) c.5175A>C (p.Lys1725Asn) c.4992A>C (p.Lys1664Asn) c.4713A>C (p.Lys1571Asn) c.3756A>C (p.Lys1252Asn) c.3747A>C (p.Lys1249Asn) | |
| 5 | g.37022095A>G | CA443905288 | NIPBL | c.5373A>G (p.Lys1791=) c.1-42483A>G (n.1-42483A>G) c.4629A>G (p.Lys1543=) c.5175A>G (p.Lys1725=) c.4992A>G (p.Lys1664=) c.4713A>G (p.Lys1571=) c.3756A>G (p.Lys1252=) c.3747A>G (p.Lys1249=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37022095A>T | CA359489442 | NIPBL | c.5373A>T (p.Lys1791Asn) c.1-42483A>T (n.1-42483A>T) c.4629A>T (p.Lys1543Asn) c.5175A>T (p.Lys1725Asn) c.4992A>T (p.Lys1664Asn) c.4713A>T (p.Lys1571Asn) c.3756A>T (p.Lys1252Asn) c.3747A>T (p.Lys1249Asn) | |
| 5 | g.37022096G>A | CA359489445 | NIPBL | c.5374G>A (p.Ala1792Thr) c.1-42482G>A (n.1-42482G>A) c.4630G>A (p.Ala1544Thr) c.5176G>A (p.Ala1726Thr) c.4993G>A (p.Ala1665Thr) c.4714G>A (p.Ala1572Thr) c.3757G>A (p.Ala1253Thr) c.3748G>A (p.Ala1250Thr) | |
| 5 | g.37022096G>C | CA359489450 | NIPBL | c.5374G>C (p.Ala1792Pro) c.1-42482G>C (n.1-42482G>C) c.4630G>C (p.Ala1544Pro) c.5176G>C (p.Ala1726Pro) c.4993G>C (p.Ala1665Pro) c.4714G>C (p.Ala1572Pro) c.3757G>C (p.Ala1253Pro) c.3748G>C (p.Ala1250Pro) | ClinVar dbSNP |
| 5 | g.37022096G= | CA1539587549 | NIPBL | c.5374G= (p.Ala1792=) c.1-42482G= (n.1-42482G=) c.4630G= (p.Ala1544=) c.5176G= (p.Ala1726=) c.4993G= (p.Ala1665=) c.4714G= (p.Ala1572=) c.3757G= (p.Ala1253=) c.3748G= (p.Ala1250=) | |
| 5 | g.37022096G>T | CA359489452 | NIPBL | c.5374G>T (p.Ala1792Ser) c.1-42482G>T (n.1-42482G>T) c.4630G>T (p.Ala1544Ser) c.5176G>T (p.Ala1726Ser) c.4993G>T (p.Ala1665Ser) c.4714G>T (p.Ala1572Ser) c.3757G>T (p.Ala1253Ser) c.3748G>T (p.Ala1250Ser) | |
| 5 | g.37022097C>A | CA359489455 | NIPBL | c.5375C>A (p.Ala1792Asp) c.1-42481C>A (n.1-42481C>A) c.4631C>A (p.Ala1544Asp) c.5177C>A (p.Ala1726Asp) c.4994C>A (p.Ala1665Asp) c.4715C>A (p.Ala1572Asp) c.3758C>A (p.Ala1253Asp) c.3749C>A (p.Ala1250Asp) | COSMIC COSMIC |
| 5 | g.37022097C= | CA1539587555 | NIPBL | c.5375C= (p.Ala1792=) c.1-42481C= (n.1-42481C=) c.4631C= (p.Ala1544=) c.5177C= (p.Ala1726=) c.4994C= (p.Ala1665=) c.4715C= (p.Ala1572=) c.3758C= (p.Ala1253=) c.3749C= (p.Ala1250=) | |
| 5 | g.37022097C>G | CA359489457 | NIPBL | c.5375C>G (p.Ala1792Gly) c.1-42481C>G (n.1-42481C>G) c.4631C>G (p.Ala1544Gly) c.5177C>G (p.Ala1726Gly) c.4994C>G (p.Ala1665Gly) c.4715C>G (p.Ala1572Gly) c.3758C>G (p.Ala1253Gly) c.3749C>G (p.Ala1250Gly) | |
| 5 | g.37022097C>T | CA3236759 | NIPBL | c.5375C>T (p.Ala1792Val) c.1-42481C>T (n.1-42481C>T) c.4631C>T (p.Ala1544Val) c.5177C>T (p.Ala1726Val) c.4994C>T (p.Ala1665Val) c.4715C>T (p.Ala1572Val) c.3758C>T (p.Ala1253Val) c.3749C>T (p.Ala1250Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37022098C>A | CA443905289 | NIPBL | c.5376C>A (p.Ala1792=) c.1-42480C>A (n.1-42480C>A) c.4632C>A (p.Ala1544=) c.5178C>A (p.Ala1726=) c.4995C>A (p.Ala1665=) c.4716C>A (p.Ala1572=) c.3759C>A (p.Ala1253=) c.3750C>A (p.Ala1250=) | |
| 5 | g.37022098C= | CA1539587564 | NIPBL | c.5376C= (p.Ala1792=) c.1-42480C= (n.1-42480C=) c.4632C= (p.Ala1544=) c.5178C= (p.Ala1726=) c.4995C= (p.Ala1665=) c.4716C= (p.Ala1572=) c.3759C= (p.Ala1253=) c.3750C= (p.Ala1250=) | |
| 5 | g.37022098C>G | CA443905290 | NIPBL | c.5376C>G (p.Ala1792=) c.1-42480C>G (n.1-42480C>G) c.4632C>G (p.Ala1544=) c.5178C>G (p.Ala1726=) c.4995C>G (p.Ala1665=) c.4716C>G (p.Ala1572=) c.3759C>G (p.Ala1253=) c.3750C>G (p.Ala1250=) | |
| 5 | g.37022098C>T | CA443905293 | NIPBL | c.5376C>T (p.Ala1792=) c.1-42480C>T (n.1-42480C>T) c.4632C>T (p.Ala1544=) c.5178C>T (p.Ala1726=) c.4995C>T (p.Ala1665=) c.4716C>T (p.Ala1572=) c.3759C>T (p.Ala1253=) c.3750C>T (p.Ala1250=) | dbSNP |
| 5 | g.37022099_37022100insAACACACCCAACACA | CA2765898563 | NIPBL | c.5377_5378insAACACACCCAACACA (p.Ala1792_Met1793insLysHisThrGlnHis) c.1-42479_1-42478insAACACACCCAACACA (n.1-42479_1-42478insAACACACCCAACACA) c.4633_4634insAACACACCCAACACA (p.Ala1544_Met1545insLysHisThrGlnHis) c.5179_5180insAACACACCCAACACA (p.Ala1726_Met1727insLysHisThrGlnHis) c.4996_4997insAACACACCCAACACA (p.Ala1665_Met1666insLysHisThrGlnHis) c.4717_4718insAACACACCCAACACA (p.Ala1572_Met1573insLysHisThrGlnHis) c.3760_3761insAACACACCCAACACA (p.Ala1253_Met1254insLysHisThrGlnHis) c.3751_3752insAACACACCCAACACA (p.Ala1250_Met1251insLysHisThrGlnHis) | |
| 5 | g.37022099A>C | CA359489460 | NIPBL | c.5377A>C (p.Met1793Leu) c.1-42479A>C (n.1-42479A>C) c.4633A>C (p.Met1545Leu) c.5179A>C (p.Met1727Leu) c.4996A>C (p.Met1666Leu) c.4717A>C (p.Met1573Leu) c.3760A>C (p.Met1254Leu) c.3751A>C (p.Met1251Leu) | |
| 5 | g.37022099A>G | CA359489463 | NIPBL | c.5377A>G (p.Met1793Val) c.1-42479A>G (n.1-42479A>G) c.4633A>G (p.Met1545Val) c.5179A>G (p.Met1727Val) c.4996A>G (p.Met1666Val) c.4717A>G (p.Met1573Val) c.3760A>G (p.Met1254Val) c.3751A>G (p.Met1251Val) | |
| 5 | g.37022099A>T | CA359489465 | NIPBL | c.5377A>T (p.Met1793Leu) c.1-42479A>T (n.1-42479A>T) c.4633A>T (p.Met1545Leu) c.5179A>T (p.Met1727Leu) c.4996A>T (p.Met1666Leu) c.4717A>T (p.Met1573Leu) c.3760A>T (p.Met1254Leu) c.3751A>T (p.Met1251Leu) | |
| 5 | g.37022100T>A | CA359489468 | NIPBL | c.5378T>A (p.Met1793Lys) c.1-42478T>A (n.1-42478T>A) c.4634T>A (p.Met1545Lys) c.5180T>A (p.Met1727Lys) c.4997T>A (p.Met1666Lys) c.4718T>A (p.Met1573Lys) c.3761T>A (p.Met1254Lys) c.3752T>A (p.Met1251Lys) | |
| 5 | g.37022100T>C | CA359489470 | NIPBL | c.5378T>C (p.Met1793Thr) c.1-42478T>C (n.1-42478T>C) c.4634T>C (p.Met1545Thr) c.5180T>C (p.Met1727Thr) c.4997T>C (p.Met1666Thr) c.4718T>C (p.Met1573Thr) c.3761T>C (p.Met1254Thr) c.3752T>C (p.Met1251Thr) | gnomAD v4 |
| 5 | g.37022100T>G | CA269908 | NIPBL | c.5378T>G (p.Met1793Arg) c.1-42478T>G (n.1-42478T>G) c.4634T>G (p.Met1545Arg) c.5180T>G (p.Met1727Arg) c.4997T>G (p.Met1666Arg) c.4718T>G (p.Met1573Arg) c.3761T>G (p.Met1254Arg) c.3752T>G (p.Met1251Arg) | ClinVar dbSNP |
| 5 | g.37022100T= | CA1539587573 | NIPBL | c.5378T= (p.Met1793=) c.1-42478T= (n.1-42478T=) c.4634T= (p.Met1545=) c.5180T= (p.Met1727=) c.4997T= (p.Met1666=) c.4718T= (p.Met1573=) c.3761T= (p.Met1254=) c.3752T= (p.Met1251=) | |
| 5 | g.37022101G>A | CA359489483 | NIPBL | c.5379G>A (p.Met1793Ile) c.1-42477G>A (n.1-42477G>A) c.4635G>A (p.Met1545Ile) c.5181G>A (p.Met1727Ile) c.4998G>A (p.Met1666Ile) c.4719G>A (p.Met1573Ile) c.3762G>A (p.Met1254Ile) c.3753G>A (p.Met1251Ile) | |
| 5 | g.37022101G>C | CA359489485 | NIPBL | c.5379G>C (p.Met1793Ile) c.1-42477G>C (n.1-42477G>C) c.4635G>C (p.Met1545Ile) c.5181G>C (p.Met1727Ile) c.4998G>C (p.Met1666Ile) c.4719G>C (p.Met1573Ile) c.3762G>C (p.Met1254Ile) c.3753G>C (p.Met1251Ile) | |
| 5 | g.37022101G>T | CA359489477 | NIPBL | c.5379G>T (p.Met1793Ile) c.1-42477G>T (n.1-42477G>T) c.4635G>T (p.Met1545Ile) c.5181G>T (p.Met1727Ile) c.4998G>T (p.Met1666Ile) c.4719G>T (p.Met1573Ile) c.3762G>T (p.Met1254Ile) c.3753G>T (p.Met1251Ile) | |
| 5 | g.37022102A>C | CA359489490 | NIPBL | c.5380A>C (p.Lys1794Gln) c.1-42476A>C (n.1-42476A>C) c.4636A>C (p.Lys1546Gln) c.5182A>C (p.Lys1728Gln) c.4999A>C (p.Lys1667Gln) c.4720A>C (p.Lys1574Gln) c.3763A>C (p.Lys1255Gln) c.3754A>C (p.Lys1252Gln) | |
| 5 | g.37022102A>G | CA359489495 | NIPBL | c.5380A>G (p.Lys1794Glu) c.1-42476A>G (n.1-42476A>G) c.4636A>G (p.Lys1546Glu) c.5182A>G (p.Lys1728Glu) c.4999A>G (p.Lys1667Glu) c.4720A>G (p.Lys1574Glu) c.3763A>G (p.Lys1255Glu) c.3754A>G (p.Lys1252Glu) | |
| 5 | g.37022102A>T | CA359489497 | NIPBL | c.5380A>T (p.Lys1794Ter) c.1-42476A>T (n.1-42476A>T) c.4636A>T (p.Lys1546Ter) c.5182A>T (p.Lys1728Ter) c.4999A>T (p.Lys1667Ter) c.4720A>T (p.Lys1574Ter) c.3763A>T (p.Lys1255Ter) c.3754A>T (p.Lys1252Ter) | |
| 5 | g.37022103del | CA2739289432 | NIPBL | c.5381del (p.Lys1794SerfsTer9) c.1-42475del (n.1-42475del) c.4637del (p.Lys1546SerfsTer9) c.5183del (p.Lys1728SerfsTer9) c.5000del (p.Lys1667SerfsTer9) c.4721del (p.Lys1574SerfsTer9) c.3764del (p.Lys1255SerfsTer9) c.3755del (p.Lys1252SerfsTer9) | |
| 5 | g.37022103A>C | CA359489503 | NIPBL | c.5381A>C (p.Lys1794Thr) c.1-42475A>C (n.1-42475A>C) c.4637A>C (p.Lys1546Thr) c.5183A>C (p.Lys1728Thr) c.5000A>C (p.Lys1667Thr) c.4721A>C (p.Lys1574Thr) c.3764A>C (p.Lys1255Thr) c.3755A>C (p.Lys1252Thr) | |
| 5 | g.37022103A>G | CA359489509 | NIPBL | c.5381A>G (p.Lys1794Arg) c.1-42475A>G (n.1-42475A>G) c.4637A>G (p.Lys1546Arg) c.5183A>G (p.Lys1728Arg) c.5000A>G (p.Lys1667Arg) c.4721A>G (p.Lys1574Arg) c.3764A>G (p.Lys1255Arg) c.3755A>G (p.Lys1252Arg) | |
| 5 | g.37022103A>T | CA359489512 | NIPBL | c.5381A>T (p.Lys1794Met) c.1-42475A>T (n.1-42475A>T) c.4637A>T (p.Lys1546Met) c.5183A>T (p.Lys1728Met) c.5000A>T (p.Lys1667Met) c.4721A>T (p.Lys1574Met) c.3764A>T (p.Lys1255Met) c.3755A>T (p.Lys1252Met) | |
| 5 | g.37022104G>A | CA443905296 | NIPBL | c.5382G>A (p.Lys1794=) c.1-42474G>A (n.1-42474G>A) c.4638G>A (p.Lys1546=) c.5184G>A (p.Lys1728=) c.5001G>A (p.Lys1667=) c.4722G>A (p.Lys1574=) c.3765G>A (p.Lys1255=) c.3756G>A (p.Lys1252=) | |
| 5 | g.37022104G>C | CA359489513 | NIPBL | c.5382G>C (p.Lys1794Asn) c.1-42474G>C (n.1-42474G>C) c.4638G>C (p.Lys1546Asn) c.5184G>C (p.Lys1728Asn) c.5001G>C (p.Lys1667Asn) c.4722G>C (p.Lys1574Asn) c.3765G>C (p.Lys1255Asn) c.3756G>C (p.Lys1252Asn) | |
| 5 | g.37022104G>T | CA359489516 | NIPBL | c.5382G>T (p.Lys1794Asn) c.1-42474G>T (n.1-42474G>T) c.4638G>T (p.Lys1546Asn) c.5184G>T (p.Lys1728Asn) c.5001G>T (p.Lys1667Asn) c.4722G>T (p.Lys1574Asn) c.3765G>T (p.Lys1255Asn) c.3756G>T (p.Lys1252Asn) | |
| 5 | g.37022105T>A | CA359489518 | NIPBL | c.5383T>A (p.Cys1795Ser) c.1-42473T>A (n.1-42473T>A) c.4639T>A (p.Cys1547Ser) c.5185T>A (p.Cys1729Ser) c.5002T>A (p.Cys1668Ser) c.4723T>A (p.Cys1575Ser) c.3766T>A (p.Cys1256Ser) c.3757T>A (p.Cys1253Ser) | |
| 5 | g.37022105T>C | CA359489523 | NIPBL | c.5383T>C (p.Cys1795Arg) c.1-42473T>C (n.1-42473T>C) c.4639T>C (p.Cys1547Arg) c.5185T>C (p.Cys1729Arg) c.5002T>C (p.Cys1668Arg) c.4723T>C (p.Cys1575Arg) c.3766T>C (p.Cys1256Arg) c.3757T>C (p.Cys1253Arg) | |
| 5 | g.37022105T>G | CA359489531 | NIPBL | c.5383T>G (p.Cys1795Gly) c.1-42473T>G (n.1-42473T>G) c.4639T>G (p.Cys1547Gly) c.5185T>G (p.Cys1729Gly) c.5002T>G (p.Cys1668Gly) c.4723T>G (p.Cys1575Gly) c.3766T>G (p.Cys1256Gly) c.3757T>G (p.Cys1253Gly) | |
| 5 | g.37022106G>A | CA359489537 | NIPBL | c.5384G>A (p.Cys1795Tyr) c.1-42472G>A (n.1-42472G>A) c.4640G>A (p.Cys1547Tyr) c.5186G>A (p.Cys1729Tyr) c.5003G>A (p.Cys1668Tyr) c.4724G>A (p.Cys1575Tyr) c.3767G>A (p.Cys1256Tyr) c.3758G>A (p.Cys1253Tyr) | |
| 5 | g.37022106G>C | CA359489536 | NIPBL | c.5384G>C (p.Cys1795Ser) c.1-42472G>C (n.1-42472G>C) c.4640G>C (p.Cys1547Ser) c.5186G>C (p.Cys1729Ser) c.5003G>C (p.Cys1668Ser) c.4724G>C (p.Cys1575Ser) c.3767G>C (p.Cys1256Ser) c.3758G>C (p.Cys1253Ser) | |
| 5 | g.37022106G>T | CA359489535 | NIPBL | c.5384G>T (p.Cys1795Phe) c.1-42472G>T (n.1-42472G>T) c.4640G>T (p.Cys1547Phe) c.5186G>T (p.Cys1729Phe) c.5003G>T (p.Cys1668Phe) c.4724G>T (p.Cys1575Phe) c.3767G>T (p.Cys1256Phe) c.3758G>T (p.Cys1253Phe) | |
| 5 | g.37022107T>A | CA359489538 | NIPBL | c.5385T>A (p.Cys1795Ter) c.1-42471T>A (n.1-42471T>A) c.4641T>A (p.Cys1547Ter) c.5187T>A (p.Cys1729Ter) c.5004T>A (p.Cys1668Ter) c.4725T>A (p.Cys1575Ter) c.3768T>A (p.Cys1256Ter) c.3759T>A (p.Cys1253Ter) | |
| 5 | g.37022107T>C | CA443905299 | NIPBL | c.5385T>C (p.Cys1795=) c.1-42471T>C (n.1-42471T>C) c.4641T>C (p.Cys1547=) c.5187T>C (p.Cys1729=) c.5004T>C (p.Cys1668=) c.4725T>C (p.Cys1575=) c.3768T>C (p.Cys1256=) c.3759T>C (p.Cys1253=) | |
| 5 | g.37022107T>G | CA359489539 | NIPBL | c.5385T>G (p.Cys1795Trp) c.1-42471T>G (n.1-42471T>G) c.4641T>G (p.Cys1547Trp) c.5187T>G (p.Cys1729Trp) c.5004T>G (p.Cys1668Trp) c.4725T>G (p.Cys1575Trp) c.3768T>G (p.Cys1256Trp) c.3759T>G (p.Cys1253Trp) | |
| 5 | g.37022108_37022109dup | CA2695204337 | NIPBL | c.5386_5387dup (p.Leu1796PhefsTer8) c.1-42470_1-42469dup (n.1-42470_1-42469dup) c.4642_4643dup (p.Leu1548PhefsTer8) c.5188_5189dup (p.Leu1730PhefsTer8) c.5005_5006dup (p.Leu1669PhefsTer8) c.4726_4727dup (p.Leu1576PhefsTer8) c.3769_3770dup (p.Leu1257PhefsTer8) c.3760_3761dup (p.Leu1254PhefsTer8) | |
| 5 | g.37022108T>A | CA359489541 | NIPBL | c.5386T>A (p.Leu1796Met) c.1-42470T>A (n.1-42470T>A) c.4642T>A (p.Leu1548Met) c.5188T>A (p.Leu1730Met) c.5005T>A (p.Leu1669Met) c.4726T>A (p.Leu1576Met) c.3769T>A (p.Leu1257Met) c.3760T>A (p.Leu1254Met) | |
| 5 | g.37022108T>C | CA443905300 | NIPBL | c.5386T>C (p.Leu1796=) c.1-42470T>C (n.1-42470T>C) c.4642T>C (p.Leu1548=) c.5188T>C (p.Leu1730=) c.5005T>C (p.Leu1669=) c.4726T>C (p.Leu1576=) c.3769T>C (p.Leu1257=) c.3760T>C (p.Leu1254=) | gnomAD v4 |
| 5 | g.37022108T>G | CA359489542 | NIPBL | c.5386T>G (p.Leu1796Val) c.1-42470T>G (n.1-42470T>G) c.4642T>G (p.Leu1548Val) c.5188T>G (p.Leu1730Val) c.5005T>G (p.Leu1669Val) c.4726T>G (p.Leu1576Val) c.3769T>G (p.Leu1257Val) c.3760T>G (p.Leu1254Val) | |
| 5 | g.37022108_37022112delinsTTGTC | CA1539587579 | NIPBL | c.5386_5390delinsTTGTC (p.Leu1796=) c.1-42470_1-42466delinsTTGTC (n.1-42470_1-42466delinsTTGTC) c.4642_4646delinsTTGTC (p.Leu1548=) c.5188_5192delinsTTGTC (p.Leu1730=) c.5005_5009delinsTTGTC (p.Leu1669=) c.4726_4730delinsTTGTC (p.Leu1576=) c.3769_3773delinsTTGTC (p.Leu1257=) c.3760_3764delinsTTGTC (p.Leu1254=) | |
| 5 | g.37022109T>A | CA359489547 | NIPBL | c.5387T>A (p.Leu1796Ter) c.1-42469T>A (n.1-42469T>A) c.4643T>A (p.Leu1548Ter) c.5189T>A (p.Leu1730Ter) c.5006T>A (p.Leu1669Ter) c.4727T>A (p.Leu1576Ter) c.3770T>A (p.Leu1257Ter) c.3761T>A (p.Leu1254Ter) | |
| 5 | g.37022109T>C | CA359489551 | NIPBL | c.5387T>C (p.Leu1796Ser) c.1-42469T>C (n.1-42469T>C) c.4643T>C (p.Leu1548Ser) c.5189T>C (p.Leu1730Ser) c.5006T>C (p.Leu1669Ser) c.4727T>C (p.Leu1576Ser) c.3770T>C (p.Leu1257Ser) c.3761T>C (p.Leu1254Ser) | |
| 5 | g.37022109T>G | CA359489554 | NIPBL | c.5387T>G (p.Leu1796Trp) c.1-42469T>G (n.1-42469T>G) c.4643T>G (p.Leu1548Trp) c.5189T>G (p.Leu1730Trp) c.5006T>G (p.Leu1669Trp) c.4727T>G (p.Leu1576Trp) c.3770T>G (p.Leu1257Trp) c.3761T>G (p.Leu1254Trp) | |
| 5 | g.37022111_37022114del | CA272147 | NIPBL | c.5389_5392del (p.Ser1797ArgfsTer5) c.1-42467_1-42464del (n.1-42467_1-42464del) c.4645_4648del (p.Ser1549ArgfsTer5) c.5191_5194del (p.Ser1731ArgfsTer5) c.5008_5011del (p.Ser1670ArgfsTer5) c.4729_4732del (p.Ser1577ArgfsTer5) c.3772_3775del (p.Ser1258ArgfsTer5) c.3763_3766del (p.Ser1255ArgfsTer5) | ClinVar dbSNP |
| 5 | g.37022110G>A | CA443905302 | NIPBL | c.5388G>A (p.Leu1796=) c.1-42468G>A (n.1-42468G>A) c.4644G>A (p.Leu1548=) c.5190G>A (p.Leu1730=) c.5007G>A (p.Leu1669=) c.4728G>A (p.Leu1576=) c.3771G>A (p.Leu1257=) c.3762G>A (p.Leu1254=) | |
| 5 | g.37022110G>C | CA359489558 | NIPBL | c.5388G>C (p.Leu1796Phe) c.1-42468G>C (n.1-42468G>C) c.4644G>C (p.Leu1548Phe) c.5190G>C (p.Leu1730Phe) c.5007G>C (p.Leu1669Phe) c.4728G>C (p.Leu1576Phe) c.3771G>C (p.Leu1257Phe) c.3762G>C (p.Leu1254Phe) | |
| 5 | g.37022110G>T | CA359489560 | NIPBL | c.5388G>T (p.Leu1796Phe) c.1-42468G>T (n.1-42468G>T) c.4644G>T (p.Leu1548Phe) c.5190G>T (p.Leu1730Phe) c.5007G>T (p.Leu1669Phe) c.4728G>T (p.Leu1576Phe) c.3771G>T (p.Leu1257Phe) c.3762G>T (p.Leu1254Phe) | |
| 5 | g.37022111T>A | CA359489562 | NIPBL | c.5389T>A (p.Ser1797Thr) c.1-42467T>A (n.1-42467T>A) c.4645T>A (p.Ser1549Thr) c.5191T>A (p.Ser1731Thr) c.5008T>A (p.Ser1670Thr) c.4729T>A (p.Ser1577Thr) c.3772T>A (p.Ser1258Thr) c.3763T>A (p.Ser1255Thr) | |
| 5 | g.37022111T>C | CA359489566 | NIPBL | c.5389T>C (p.Ser1797Pro) c.1-42467T>C (n.1-42467T>C) c.4645T>C (p.Ser1549Pro) c.5191T>C (p.Ser1731Pro) c.5008T>C (p.Ser1670Pro) c.4729T>C (p.Ser1577Pro) c.3772T>C (p.Ser1258Pro) c.3763T>C (p.Ser1255Pro) | |
| 5 | g.37022111T>G | CA359489568 | NIPBL | c.5389T>G (p.Ser1797Ala) c.1-42467T>G (n.1-42467T>G) c.4645T>G (p.Ser1549Ala) c.5191T>G (p.Ser1731Ala) c.5008T>G (p.Ser1670Ala) c.4729T>G (p.Ser1577Ala) c.3772T>G (p.Ser1258Ala) c.3763T>G (p.Ser1255Ala) | |
| 5 | g.37022112C>A | CA359489574 | NIPBL | c.5390C>A (p.Ser1797Tyr) c.1-42466C>A (n.1-42466C>A) c.4646C>A (p.Ser1549Tyr) c.5192C>A (p.Ser1731Tyr) c.5009C>A (p.Ser1670Tyr) c.4730C>A (p.Ser1577Tyr) c.3773C>A (p.Ser1258Tyr) c.3764C>A (p.Ser1255Tyr) | |
| 5 | g.37022112C= | CA1539587592 | NIPBL | c.5390C= (p.Ser1797=) c.1-42466C= (n.1-42466C=) c.4646C= (p.Ser1549=) c.5192C= (p.Ser1731=) c.5009C= (p.Ser1670=) c.4730C= (p.Ser1577=) c.3773C= (p.Ser1258=) c.3764C= (p.Ser1255=) | |
| 5 | g.37022112C>G | CA359489582 | NIPBL | c.5390C>G (p.Ser1797Cys) c.1-42466C>G (n.1-42466C>G) c.4646C>G (p.Ser1549Cys) c.5192C>G (p.Ser1731Cys) c.5009C>G (p.Ser1670Cys) c.4730C>G (p.Ser1577Cys) c.3773C>G (p.Ser1258Cys) c.3764C>G (p.Ser1255Cys) | dbSNP gnomAD v2 |
| 5 | g.37022112C>T | CA359489571 | NIPBL | c.5390C>T (p.Ser1797Phe) c.1-42466C>T (n.1-42466C>T) c.4646C>T (p.Ser1549Phe) c.5192C>T (p.Ser1731Phe) c.5009C>T (p.Ser1670Phe) c.4730C>T (p.Ser1577Phe) c.3773C>T (p.Ser1258Phe) c.3764C>T (p.Ser1255Phe) | |
| 5 | g.37022113T>A | CA443905303 | NIPBL | c.5391T>A (p.Ser1797=) c.1-42465T>A (n.1-42465T>A) c.4647T>A (p.Ser1549=) c.5193T>A (p.Ser1731=) c.5010T>A (p.Ser1670=) c.4731T>A (p.Ser1577=) c.3774T>A (p.Ser1258=) c.3765T>A (p.Ser1255=) | |
| 5 | g.37022113T>C | CA443905304 | NIPBL | c.5391T>C (p.Ser1797=) c.1-42465T>C (n.1-42465T>C) c.4647T>C (p.Ser1549=) c.5193T>C (p.Ser1731=) c.5010T>C (p.Ser1670=) c.4731T>C (p.Ser1577=) c.3774T>C (p.Ser1258=) c.3765T>C (p.Ser1255=) | |
| 5 | g.37022113T>G | CA443905306 | NIPBL | c.5391T>G (p.Ser1797=) c.1-42465T>G (n.1-42465T>G) c.4647T>G (p.Ser1549=) c.5193T>G (p.Ser1731=) c.5010T>G (p.Ser1670=) c.4731T>G (p.Ser1577=) c.3774T>G (p.Ser1258=) c.3765T>G (p.Ser1255=) | |
| 5 | g.37022114G>A | CA359489593 | NIPBL | c.5392G>A (p.Glu1798Lys) c.1-42464G>A (n.1-42464G>A) c.4648G>A (p.Glu1550Lys) c.5194G>A (p.Glu1732Lys) c.5011G>A (p.Glu1671Lys) c.4732G>A (p.Glu1578Lys) c.3775G>A (p.Glu1259Lys) c.3766G>A (p.Glu1256Lys) | |
| 5 | g.37022114G>C | CA359489586 | NIPBL | c.5392G>C (p.Glu1798Gln) c.1-42464G>C (n.1-42464G>C) c.4648G>C (p.Glu1550Gln) c.5194G>C (p.Glu1732Gln) c.5011G>C (p.Glu1671Gln) c.4732G>C (p.Glu1578Gln) c.3775G>C (p.Glu1259Gln) c.3766G>C (p.Glu1256Gln) | |
| 5 | g.37022114G>T | CA359489596 | NIPBL | c.5392G>T (p.Glu1798Ter) c.1-42464G>T (n.1-42464G>T) c.4648G>T (p.Glu1550Ter) c.5194G>T (p.Glu1732Ter) c.5011G>T (p.Glu1671Ter) c.4732G>T (p.Glu1578Ter) c.3775G>T (p.Glu1259Ter) c.3766G>T (p.Glu1256Ter) | |
| 5 | g.37022115A>C | CA359489599 | NIPBL | c.5393A>C (p.Glu1798Ala) c.1-42463A>C (n.1-42463A>C) c.4649A>C (p.Glu1550Ala) c.5195A>C (p.Glu1732Ala) c.5012A>C (p.Glu1671Ala) c.4733A>C (p.Glu1578Ala) c.3776A>C (p.Glu1259Ala) c.3767A>C (p.Glu1256Ala) | |
| 5 | g.37022115A>G | CA359489605 | NIPBL | c.5393A>G (p.Glu1798Gly) c.1-42463A>G (n.1-42463A>G) c.4649A>G (p.Glu1550Gly) c.5195A>G (p.Glu1732Gly) c.5012A>G (p.Glu1671Gly) c.4733A>G (p.Glu1578Gly) c.3776A>G (p.Glu1259Gly) c.3767A>G (p.Glu1256Gly) | |
| 5 | g.37022115A>T | CA359489607 | NIPBL | c.5393A>T (p.Glu1798Val) c.1-42463A>T (n.1-42463A>T) c.4649A>T (p.Glu1550Val) c.5195A>T (p.Glu1732Val) c.5012A>T (p.Glu1671Val) c.4733A>T (p.Glu1578Val) c.3776A>T (p.Glu1259Val) c.3767A>T (p.Glu1256Val) | |
| 5 | g.37022116G>A | CA443905309 | NIPBL | c.5394G>A (p.Glu1798=) c.1-42462G>A (n.1-42462G>A) c.4650G>A (p.Glu1550=) c.5196G>A (p.Glu1732=) c.5013G>A (p.Glu1671=) c.4734G>A (p.Glu1578=) c.3777G>A (p.Glu1259=) c.3768G>A (p.Glu1256=) | gnomAD v4 |
| 5 | g.37022116G>C | CA359489610 | NIPBL | c.5394G>C (p.Glu1798Asp) c.1-42462G>C (n.1-42462G>C) c.4650G>C (p.Glu1550Asp) c.5196G>C (p.Glu1732Asp) c.5013G>C (p.Glu1671Asp) c.4734G>C (p.Glu1578Asp) c.3777G>C (p.Glu1259Asp) c.3768G>C (p.Glu1256Asp) | |
| 5 | g.37022116G>T | CA359489611 | NIPBL | c.5394G>T (p.Glu1798Asp) c.1-42462G>T (n.1-42462G>T) c.4650G>T (p.Glu1550Asp) c.5196G>T (p.Glu1732Asp) c.5013G>T (p.Glu1671Asp) c.4734G>T (p.Glu1578Asp) c.3777G>T (p.Glu1259Asp) c.3768G>T (p.Glu1256Asp) | gnomAD v4 |
| 5 | g.37022117G>A | CA359489612 | NIPBL | c.5395G>A (p.Val1799Ile) c.1-42461G>A (n.1-42461G>A) c.4651G>A (p.Val1551Ile) c.5197G>A (p.Val1733Ile) c.5014G>A (p.Val1672Ile) c.4735G>A (p.Val1579Ile) c.3778G>A (p.Val1260Ile) c.3769G>A (p.Val1257Ile) | |
| 5 | g.37022117G>C | CA359489613 | NIPBL | c.5395G>C (p.Val1799Leu) c.1-42461G>C (n.1-42461G>C) c.4651G>C (p.Val1551Leu) c.5197G>C (p.Val1733Leu) c.5014G>C (p.Val1672Leu) c.4735G>C (p.Val1579Leu) c.3778G>C (p.Val1260Leu) c.3769G>C (p.Val1257Leu) | |
| 5 | g.37022117G>T | CA359489614 | NIPBL | c.5395G>T (p.Val1799Phe) c.1-42461G>T (n.1-42461G>T) c.4651G>T (p.Val1551Phe) c.5197G>T (p.Val1733Phe) c.5014G>T (p.Val1672Phe) c.4735G>T (p.Val1579Phe) c.3778G>T (p.Val1260Phe) c.3769G>T (p.Val1257Phe) | |
| 5 | g.37022121_37022123del | CA2580613549 | NIPBL | c.5399_5401del (p.Val1800del) c.1-42457_1-42455del (n.1-42457_1-42455del) c.4655_4657del (p.Val1552del) c.5201_5203del (p.Val1734del) c.5018_5020del (p.Val1673del) c.4739_4741del (p.Val1580del) c.3782_3784del (p.Val1261del) c.3773_3775del (p.Val1258del) | ClinVar dbSNP |
| 5 | g.37022118T>A | CA359489617 | NIPBL | c.5396T>A (p.Val1799Asp) c.1-42460T>A (n.1-42460T>A) c.4652T>A (p.Val1551Asp) c.5198T>A (p.Val1733Asp) c.5015T>A (p.Val1672Asp) c.4736T>A (p.Val1579Asp) c.3779T>A (p.Val1260Asp) c.3770T>A (p.Val1257Asp) | |
| 5 | g.37022118T>C | CA359489629 | NIPBL | c.5396T>C (p.Val1799Ala) c.1-42460T>C (n.1-42460T>C) c.4652T>C (p.Val1551Ala) c.5198T>C (p.Val1733Ala) c.5015T>C (p.Val1672Ala) c.4736T>C (p.Val1579Ala) c.3779T>C (p.Val1260Ala) c.3770T>C (p.Val1257Ala) | |
| 5 | g.37022118T>G | CA359489638 | NIPBL | c.5396T>G (p.Val1799Gly) c.1-42460T>G (n.1-42460T>G) c.4652T>G (p.Val1551Gly) c.5198T>G (p.Val1733Gly) c.5015T>G (p.Val1672Gly) c.4736T>G (p.Val1579Gly) c.3779T>G (p.Val1260Gly) c.3770T>G (p.Val1257Gly) | |
| 5 | g.37022119T>A | CA443905314 | NIPBL | c.5397T>A (p.Val1799=) c.1-42459T>A (n.1-42459T>A) c.4653T>A (p.Val1551=) c.5199T>A (p.Val1733=) c.5016T>A (p.Val1672=) c.4737T>A (p.Val1579=) c.3780T>A (p.Val1260=) c.3771T>A (p.Val1257=) | |
| 5 | g.37022119T>C | CA443905316 | NIPBL | c.5397T>C (p.Val1799=) c.1-42459T>C (n.1-42459T>C) c.4653T>C (p.Val1551=) c.5199T>C (p.Val1733=) c.5016T>C (p.Val1672=) c.4737T>C (p.Val1579=) c.3780T>C (p.Val1260=) c.3771T>C (p.Val1257=) | |
| 5 | g.37022119T>G | CA443905318 | NIPBL | c.5397T>G (p.Val1799=) c.1-42459T>G (n.1-42459T>G) c.4653T>G (p.Val1551=) c.5199T>G (p.Val1733=) c.5016T>G (p.Val1672=) c.4737T>G (p.Val1579=) c.3780T>G (p.Val1260=) c.3771T>G (p.Val1257=) | dbSNP gnomAD v4 |
| 5 | g.37022119T= | CA1539587599 | NIPBL | c.5397T= (p.Val1799=) c.1-42459T= (n.1-42459T=) c.4653T= (p.Val1551=) c.5199T= (p.Val1733=) c.5016T= (p.Val1672=) c.4737T= (p.Val1579=) c.3780T= (p.Val1260=) c.3771T= (p.Val1257=) | |
| 5 | g.37022120G>A | CA3236760 | NIPBL | c.5398G>A (p.Val1800Ile) c.1-42458G>A (n.1-42458G>A) c.4654G>A (p.Val1552Ile) c.5200G>A (p.Val1734Ile) c.5017G>A (p.Val1673Ile) c.4738G>A (p.Val1580Ile) c.3781G>A (p.Val1261Ile) c.3772G>A (p.Val1258Ile) | dbSNP ExAC gnomAD v2 |
| 5 | g.37022120G>C | CA359489658 | NIPBL | c.5398G>C (p.Val1800Leu) c.1-42458G>C (n.1-42458G>C) c.4654G>C (p.Val1552Leu) c.5200G>C (p.Val1734Leu) c.5017G>C (p.Val1673Leu) c.4738G>C (p.Val1580Leu) c.3781G>C (p.Val1261Leu) c.3772G>C (p.Val1258Leu) | |
| 5 | g.37022120G= | CA1539587603 | NIPBL | c.5398G= (p.Val1800=) c.1-42458G= (n.1-42458G=) c.4654G= (p.Val1552=) c.5200G= (p.Val1734=) c.5017G= (p.Val1673=) c.4738G= (p.Val1580=) c.3781G= (p.Val1261=) c.3772G= (p.Val1258=) | |
| 5 | g.37022120G>T | CA359489647 | NIPBL | c.5398G>T (p.Val1800Phe) c.1-42458G>T (n.1-42458G>T) c.4654G>T (p.Val1552Phe) c.5200G>T (p.Val1734Phe) c.5017G>T (p.Val1673Phe) c.4738G>T (p.Val1580Phe) c.3781G>T (p.Val1261Phe) c.3772G>T (p.Val1258Phe) | |
| 5 | g.37022121T>A | CA359489665 | NIPBL | c.5399T>A (p.Val1800Asp) c.1-42457T>A (n.1-42457T>A) c.4655T>A (p.Val1552Asp) c.5201T>A (p.Val1734Asp) c.5018T>A (p.Val1673Asp) c.4739T>A (p.Val1580Asp) c.3782T>A (p.Val1261Asp) c.3773T>A (p.Val1258Asp) | |
| 5 | g.37022121T>C | CA359489667 | NIPBL | c.5399T>C (p.Val1800Ala) c.1-42457T>C (n.1-42457T>C) c.4655T>C (p.Val1552Ala) c.5201T>C (p.Val1734Ala) c.5018T>C (p.Val1673Ala) c.4739T>C (p.Val1580Ala) c.3782T>C (p.Val1261Ala) c.3773T>C (p.Val1258Ala) | |
| 5 | g.37022121T>G | CA359489672 | NIPBL | c.5399T>G (p.Val1800Gly) c.1-42457T>G (n.1-42457T>G) c.4655T>G (p.Val1552Gly) c.5201T>G (p.Val1734Gly) c.5018T>G (p.Val1673Gly) c.4739T>G (p.Val1580Gly) c.3782T>G (p.Val1261Gly) c.3773T>G (p.Val1258Gly) | |
| 5 | g.37022122T>A | CA443905323 | NIPBL | c.5400T>A (p.Val1800=) c.1-42456T>A (n.1-42456T>A) c.4656T>A (p.Val1552=) c.5202T>A (p.Val1734=) c.5019T>A (p.Val1673=) c.4740T>A (p.Val1580=) c.3783T>A (p.Val1261=) c.3774T>A (p.Val1258=) | |
| 5 | g.37022122T>C | CA443905324 | NIPBL | c.5400T>C (p.Val1800=) c.1-42456T>C (n.1-42456T>C) c.4656T>C (p.Val1552=) c.5202T>C (p.Val1734=) c.5019T>C (p.Val1673=) c.4740T>C (p.Val1580=) c.3783T>C (p.Val1261=) c.3774T>C (p.Val1258=) | |
| 5 | g.37022122T>G | CA443905325 | NIPBL | c.5400T>G (p.Val1800=) c.1-42456T>G (n.1-42456T>G) c.4656T>G (p.Val1552=) c.5202T>G (p.Val1734=) c.5019T>G (p.Val1673=) c.4740T>G (p.Val1580=) c.3783T>G (p.Val1261=) c.3774T>G (p.Val1258=) |