Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37045378_37045397del | CA2673581589 | NIPBL | c.6344-65_6344-46del (n.6344-65_6344-46del) c.1-19200_1-19181del (n.1-19200_1-19181del) c.5600-65_5600-46del (n.5600-65_5600-46del) c.6146-65_6146-46del (n.6146-65_6146-46del) c.5963-65_5963-46del (n.5963-65_5963-46del) c.5684-65_5684-46del (n.5684-65_5684-46del) c.4727-65_4727-46del (n.4727-65_4727-46del) c.4718-65_4718-46del (n.4718-65_4718-46del) | gnomAD v4 |
5 | g.37045390A>T | CA2673581603 | NIPBL | c.6344-53A>T (n.6344-53A>T) c.1-19188A>T (n.1-19188A>T) c.5600-53A>T (n.5600-53A>T) c.6146-53A>T (n.6146-53A>T) c.5963-53A>T (n.5963-53A>T) c.5684-53A>T (n.5684-53A>T) c.4727-53A>T (n.4727-53A>T) c.4718-53A>T (n.4718-53A>T) | gnomAD v4 |
5 | g.37045391C>A | CA2673581604 | NIPBL | c.6344-52C>A (n.6344-52C>A) c.1-19187C>A (n.1-19187C>A) c.5600-52C>A (n.5600-52C>A) c.6146-52C>A (n.6146-52C>A) c.5963-52C>A (n.5963-52C>A) c.5684-52C>A (n.5684-52C>A) c.4727-52C>A (n.4727-52C>A) c.4718-52C>A (n.4718-52C>A) | gnomAD v4 |
5 | g.37045391C>T | CA2673581605 | NIPBL | c.6344-52C>T (n.6344-52C>T) c.1-19187C>T (n.1-19187C>T) c.5600-52C>T (n.5600-52C>T) c.6146-52C>T (n.6146-52C>T) c.5963-52C>T (n.5963-52C>T) c.5684-52C>T (n.5684-52C>T) c.4727-52C>T (n.4727-52C>T) c.4718-52C>T (n.4718-52C>T) | gnomAD v4 |
5 | g.37045392T>G | CA2765910818 | NIPBL | c.6344-51T>G (n.6344-51T>G) c.1-19186T>G (n.1-19186T>G) c.5600-51T>G (n.5600-51T>G) c.6146-51T>G (n.6146-51T>G) c.5963-51T>G (n.5963-51T>G) c.5684-51T>G (n.5684-51T>G) c.4727-51T>G (n.4727-51T>G) c.4718-51T>G (n.4718-51T>G) | |
5 | g.37045394A>T | CA2578289484 | NIPBL | c.6344-49A>T (n.6344-49A>T) c.1-19184A>T (n.1-19184A>T) c.5600-49A>T (n.5600-49A>T) c.6146-49A>T (n.6146-49A>T) c.5963-49A>T (n.5963-49A>T) c.5684-49A>T (n.5684-49A>T) c.4727-49A>T (n.4727-49A>T) c.4718-49A>T (n.4718-49A>T) | gnomAD v4 |
5 | g.37045395G>A | CA3236984 | NIPBL | c.6344-48G>A (n.6344-48G>A) c.1-19183G>A (n.1-19183G>A) c.5600-48G>A (n.5600-48G>A) c.6146-48G>A (n.6146-48G>A) c.5963-48G>A (n.5963-48G>A) c.5684-48G>A (n.5684-48G>A) c.4727-48G>A (n.4727-48G>A) c.4718-48G>A (n.4718-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045395G= | CA1539618431 | NIPBL | c.6344-48G= (n.6344-48G=) c.1-19183G= (n.1-19183G=) c.5600-48G= (n.5600-48G=) c.6146-48G= (n.6146-48G=) c.5963-48G= (n.5963-48G=) c.5684-48G= (n.5684-48G=) c.4727-48G= (n.4727-48G=) c.4718-48G= (n.4718-48G=) | |
5 | g.37045396del | CA2673581606 | NIPBL | c.6344-47del (n.6344-47del) c.1-19182del (n.1-19182del) c.5600-47del (n.5600-47del) c.6146-47del (n.6146-47del) c.5963-47del (n.5963-47del) c.5684-47del (n.5684-47del) c.4727-47del (n.4727-47del) c.4718-47del (n.4718-47del) | gnomAD v4 |
5 | g.37045396T>A | CA2673581607 | NIPBL | c.6344-47T>A (n.6344-47T>A) c.1-19182T>A (n.1-19182T>A) c.5600-47T>A (n.5600-47T>A) c.6146-47T>A (n.6146-47T>A) c.5963-47T>A (n.5963-47T>A) c.5684-47T>A (n.5684-47T>A) c.4727-47T>A (n.4727-47T>A) c.4718-47T>A (n.4718-47T>A) | gnomAD v4 |
5 | g.37045398A= | CA1539618432 | NIPBL | c.6344-45A= (n.6344-45A=) c.1-19180A= (n.1-19180A=) c.5600-45A= (n.5600-45A=) c.6146-45A= (n.6146-45A=) c.5963-45A= (n.5963-45A=) c.5684-45A= (n.5684-45A=) c.4727-45A= (n.4727-45A=) c.4718-45A= (n.4718-45A=) | |
5 | g.37045398A>G | CA3236985 | NIPBL | c.6344-45A>G (n.6344-45A>G) c.1-19180A>G (n.1-19180A>G) c.5600-45A>G (n.5600-45A>G) c.6146-45A>G (n.6146-45A>G) c.5963-45A>G (n.5963-45A>G) c.5684-45A>G (n.5684-45A>G) c.4727-45A>G (n.4727-45A>G) c.4718-45A>G (n.4718-45A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37045401C>A | CA2578289486 | NIPBL | c.6344-42C>A (n.6344-42C>A) c.1-19177C>A (n.1-19177C>A) c.5600-42C>A (n.5600-42C>A) c.6146-42C>A (n.6146-42C>A) c.5963-42C>A (n.5963-42C>A) c.5684-42C>A (n.5684-42C>A) c.4727-42C>A (n.4727-42C>A) c.4718-42C>A (n.4718-42C>A) | gnomAD v4 |
5 | g.37045401C= | CA1539618433 | NIPBL | c.6344-42C= (n.6344-42C=) c.1-19177C= (n.1-19177C=) c.5600-42C= (n.5600-42C=) c.6146-42C= (n.6146-42C=) c.5963-42C= (n.5963-42C=) c.5684-42C= (n.5684-42C=) c.4727-42C= (n.4727-42C=) c.4718-42C= (n.4718-42C=) | |
5 | g.37045401C>G | CA2578289487 | NIPBL | c.6344-42C>G (n.6344-42C>G) c.1-19177C>G (n.1-19177C>G) c.5600-42C>G (n.5600-42C>G) c.6146-42C>G (n.6146-42C>G) c.5963-42C>G (n.5963-42C>G) c.5684-42C>G (n.5684-42C>G) c.4727-42C>G (n.4727-42C>G) c.4718-42C>G (n.4718-42C>G) | |
5 | g.37045401C>T | CA810303262 | NIPBL | c.6344-42C>T (n.6344-42C>T) c.1-19177C>T (n.1-19177C>T) c.5600-42C>T (n.5600-42C>T) c.6146-42C>T (n.6146-42C>T) c.5963-42C>T (n.5963-42C>T) c.5684-42C>T (n.5684-42C>T) c.4727-42C>T (n.4727-42C>T) c.4718-42C>T (n.4718-42C>T) | dbSNP gnomAD v4 |
5 | g.37045402A>G | CA2673581608 | NIPBL | c.6344-41A>G (n.6344-41A>G) c.1-19176A>G (n.1-19176A>G) c.5600-41A>G (n.5600-41A>G) c.6146-41A>G (n.6146-41A>G) c.5963-41A>G (n.5963-41A>G) c.5684-41A>G (n.5684-41A>G) c.4727-41A>G (n.4727-41A>G) c.4718-41A>G (n.4718-41A>G) | gnomAD v4 |
5 | g.37045403A>G | CA2673581609 | NIPBL | c.6344-40A>G (n.6344-40A>G) c.1-19175A>G (n.1-19175A>G) c.5600-40A>G (n.5600-40A>G) c.6146-40A>G (n.6146-40A>G) c.5963-40A>G (n.5963-40A>G) c.5684-40A>G (n.5684-40A>G) c.4727-40A>G (n.4727-40A>G) c.4718-40A>G (n.4718-40A>G) | gnomAD v4 |
5 | g.37045405G>A | CA1539618435 | NIPBL | c.6344-38G>A (n.6344-38G>A) c.1-19173G>A (n.1-19173G>A) c.5600-38G>A (n.5600-38G>A) c.6146-38G>A (n.6146-38G>A) c.5963-38G>A (n.5963-38G>A) c.5684-38G>A (n.5684-38G>A) c.4727-38G>A (n.4727-38G>A) c.4718-38G>A (n.4718-38G>A) | dbSNP |
5 | g.37045405G= | CA1539618434 | NIPBL | c.6344-38G= (n.6344-38G=) c.1-19173G= (n.1-19173G=) c.5600-38G= (n.5600-38G=) c.6146-38G= (n.6146-38G=) c.5963-38G= (n.5963-38G=) c.5684-38G= (n.5684-38G=) c.4727-38G= (n.4727-38G=) c.4718-38G= (n.4718-38G=) | |
5 | g.37045406A= | CA1539618437 | NIPBL | c.6344-37A= (n.6344-37A=) c.1-19172A= (n.1-19172A=) c.5600-37A= (n.5600-37A=) c.6146-37A= (n.6146-37A=) c.5963-37A= (n.5963-37A=) c.5684-37A= (n.5684-37A=) c.4727-37A= (n.4727-37A=) c.4718-37A= (n.4718-37A=) | |
5 | g.37045406A>G | CA3236986 | NIPBL | c.6344-37A>G (n.6344-37A>G) c.1-19172A>G (n.1-19172A>G) c.5600-37A>G (n.5600-37A>G) c.6146-37A>G (n.6146-37A>G) c.5963-37A>G (n.5963-37A>G) c.5684-37A>G (n.5684-37A>G) c.4727-37A>G (n.4727-37A>G) c.4718-37A>G (n.4718-37A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045409_37045411delinsAAT | CA1539618438 | NIPBL | c.6344-34_6344-32delinsAAT (n.6344-34_6344-32delinsAAT) c.1-19169_1-19167delinsAAT (n.1-19169_1-19167delinsAAT) c.5600-34_5600-32delinsAAT (n.5600-34_5600-32delinsAAT) c.6146-34_6146-32delinsAAT (n.6146-34_6146-32delinsAAT) c.5963-34_5963-32delinsAAT (n.5963-34_5963-32delinsAAT) c.5684-34_5684-32delinsAAT (n.5684-34_5684-32delinsAAT) c.4727-34_4727-32delinsAAT (n.4727-34_4727-32delinsAAT) c.4718-34_4718-32delinsAAT (n.4718-34_4718-32delinsAAT) | |
5 | g.37045410A= | CA1539618440 | NIPBL | c.6344-33A= (n.6344-33A=) c.1-19168A= (n.1-19168A=) c.5600-33A= (n.5600-33A=) c.6146-33A= (n.6146-33A=) c.5963-33A= (n.5963-33A=) c.5684-33A= (n.5684-33A=) c.4727-33A= (n.4727-33A=) c.4718-33A= (n.4718-33A=) | |
5 | g.37045410A>C | CA649811331 | NIPBL | c.6344-33A>C (n.6344-33A>C) c.1-19168A>C (n.1-19168A>C) c.5600-33A>C (n.5600-33A>C) c.6146-33A>C (n.6146-33A>C) c.5963-33A>C (n.5963-33A>C) c.5684-33A>C (n.5684-33A>C) c.4727-33A>C (n.4727-33A>C) c.4718-33A>C (n.4718-33A>C) | gnomAD v4 COSMIC |
5 | g.37045410A>G | CA3236989 | NIPBL | c.6344-33A>G (n.6344-33A>G) c.1-19168A>G (n.1-19168A>G) c.5600-33A>G (n.5600-33A>G) c.6146-33A>G (n.6146-33A>G) c.5963-33A>G (n.5963-33A>G) c.5684-33A>G (n.5684-33A>G) c.4727-33A>G (n.4727-33A>G) c.4718-33A>G (n.4718-33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37045410_37045413delinsATAT | CA1539618441 | NIPBL | c.6344-33_6344-30delinsATAT (n.6344-33_6344-30delinsATAT) c.1-19168_1-19165delinsATAT (n.1-19168_1-19165delinsATAT) c.5600-33_5600-30delinsATAT (n.5600-33_5600-30delinsATAT) c.6146-33_6146-30delinsATAT (n.6146-33_6146-30delinsATAT) c.5963-33_5963-30delinsATAT (n.5963-33_5963-30delinsATAT) c.5684-33_5684-30delinsATAT (n.5684-33_5684-30delinsATAT) c.4727-33_4727-30delinsATAT (n.4727-33_4727-30delinsATAT) c.4718-33_4718-30delinsATAT (n.4718-33_4718-30delinsATAT) | |
5 | g.37045412_37045413del | CA3236987 | NIPBL | c.6344-31_6344-30del (n.6344-31_6344-30del) c.1-19166_1-19165del (n.1-19166_1-19165del) c.5600-31_5600-30del (n.5600-31_5600-30del) c.6146-31_6146-30del (n.6146-31_6146-30del) c.5963-31_5963-30del (n.5963-31_5963-30del) c.5684-31_5684-30del (n.5684-31_5684-30del) c.4727-31_4727-30del (n.4727-31_4727-30del) c.4718-31_4718-30del (n.4718-31_4718-30del) | dbSNP ExAC gnomAD v2 |
5 | g.37045411T>C | CA559295256 | NIPBL | c.6344-32T>C (n.6344-32T>C) c.1-19167T>C (n.1-19167T>C) c.5600-32T>C (n.5600-32T>C) c.6146-32T>C (n.6146-32T>C) c.5963-32T>C (n.5963-32T>C) c.5684-32T>C (n.5684-32T>C) c.4727-32T>C (n.4727-32T>C) c.4718-32T>C (n.4718-32T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37045411T= | CA1539618443 | NIPBL | c.6344-32T= (n.6344-32T=) c.1-19167T= (n.1-19167T=) c.5600-32T= (n.5600-32T=) c.6146-32T= (n.6146-32T=) c.5963-32T= (n.5963-32T=) c.5684-32T= (n.5684-32T=) c.4727-32T= (n.4727-32T=) c.4718-32T= (n.4718-32T=) | |
5 | g.37045414_37045416del | CA3236988 | NIPBL | c.6344-29_6344-27del (n.6344-29_6344-27del) c.1-19164_1-19162del (n.1-19164_1-19162del) c.5600-29_5600-27del (n.5600-29_5600-27del) c.6146-29_6146-27del (n.6146-29_6146-27del) c.5963-29_5963-27del (n.5963-29_5963-27del) c.5684-29_5684-27del (n.5684-29_5684-27del) c.4727-29_4727-27del (n.4727-29_4727-27del) c.4718-29_4718-27del (n.4718-29_4718-27del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045412A>G | CA2673581610 | NIPBL | c.6344-31A>G (n.6344-31A>G) c.1-19166A>G (n.1-19166A>G) c.5600-31A>G (n.5600-31A>G) c.6146-31A>G (n.6146-31A>G) c.5963-31A>G (n.5963-31A>G) c.5684-31A>G (n.5684-31A>G) c.4727-31A>G (n.4727-31A>G) c.4718-31A>G (n.4718-31A>G) | gnomAD v4 |
5 | g.37045413T>A | CA2673581612 | NIPBL | c.6344-30T>A (n.6344-30T>A) c.1-19165T>A (n.1-19165T>A) c.5600-30T>A (n.5600-30T>A) c.6146-30T>A (n.6146-30T>A) c.5963-30T>A (n.5963-30T>A) c.5684-30T>A (n.5684-30T>A) c.4727-30T>A (n.4727-30T>A) c.4718-30T>A (n.4718-30T>A) | gnomAD v4 |
5 | g.37045413T>C | CA2578289490 | NIPBL | c.6344-30T>C (n.6344-30T>C) c.1-19165T>C (n.1-19165T>C) c.5600-30T>C (n.5600-30T>C) c.6146-30T>C (n.6146-30T>C) c.5963-30T>C (n.5963-30T>C) c.5684-30T>C (n.5684-30T>C) c.4727-30T>C (n.4727-30T>C) c.4718-30T>C (n.4718-30T>C) | |
5 | g.37045413T>G | CA2673581613 | NIPBL | c.6344-30T>G (n.6344-30T>G) c.1-19165T>G (n.1-19165T>G) c.5600-30T>G (n.5600-30T>G) c.6146-30T>G (n.6146-30T>G) c.5963-30T>G (n.5963-30T>G) c.5684-30T>G (n.5684-30T>G) c.4727-30T>G (n.4727-30T>G) c.4718-30T>G (n.4718-30T>G) | gnomAD v4 |
5 | g.37045414del | CA2673581611 | NIPBL | c.6344-29del (n.6344-29del) c.1-19164del (n.1-19164del) c.5600-29del (n.5600-29del) c.6146-29del (n.6146-29del) c.5963-29del (n.5963-29del) c.5684-29del (n.5684-29del) c.4727-29del (n.4727-29del) c.4718-29del (n.4718-29del) | gnomAD v4 |
5 | g.37045414T>C | CA559295257 | NIPBL | c.6344-29T>C (n.6344-29T>C) c.1-19164T>C (n.1-19164T>C) c.5600-29T>C (n.5600-29T>C) c.6146-29T>C (n.6146-29T>C) c.5963-29T>C (n.5963-29T>C) c.5684-29T>C (n.5684-29T>C) c.4727-29T>C (n.4727-29T>C) c.4718-29T>C (n.4718-29T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37045414T= | CA1539618445 | NIPBL | c.6344-29T= (n.6344-29T=) c.1-19164T= (n.1-19164T=) c.5600-29T= (n.5600-29T=) c.6146-29T= (n.6146-29T=) c.5963-29T= (n.5963-29T=) c.5684-29T= (n.5684-29T=) c.4727-29T= (n.4727-29T=) c.4718-29T= (n.4718-29T=) | |
5 | g.37045415del | CA2673581614 | NIPBL | c.6344-28del (n.6344-28del) c.1-19163del (n.1-19163del) c.5600-28del (n.5600-28del) c.6146-28del (n.6146-28del) c.5963-28del (n.5963-28del) c.5684-28del (n.5684-28del) c.4727-28del (n.4727-28del) c.4718-28del (n.4718-28del) | gnomAD v4 |
5 | g.37045415A= | CA1539618447 | NIPBL | c.6344-28A= (n.6344-28A=) c.1-19163A= (n.1-19163A=) c.5600-28A= (n.5600-28A=) c.6146-28A= (n.6146-28A=) c.5963-28A= (n.5963-28A=) c.5684-28A= (n.5684-28A=) c.4727-28A= (n.4727-28A=) c.4718-28A= (n.4718-28A=) | |
5 | g.37045415A>C | CA559295258 | NIPBL | c.6344-28A>C (n.6344-28A>C) c.1-19163A>C (n.1-19163A>C) c.5600-28A>C (n.5600-28A>C) c.6146-28A>C (n.6146-28A>C) c.5963-28A>C (n.5963-28A>C) c.5684-28A>C (n.5684-28A>C) c.4727-28A>C (n.4727-28A>C) c.4718-28A>C (n.4718-28A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045415A>G | CA3236990 | NIPBL | c.6344-28A>G (n.6344-28A>G) c.1-19163A>G (n.1-19163A>G) c.5600-28A>G (n.5600-28A>G) c.6146-28A>G (n.6146-28A>G) c.5963-28A>G (n.5963-28A>G) c.5684-28A>G (n.5684-28A>G) c.4727-28A>G (n.4727-28A>G) c.4718-28A>G (n.4718-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045415A>T | CA559295259 | NIPBL | c.6344-28A>T (n.6344-28A>T) c.1-19163A>T (n.1-19163A>T) c.5600-28A>T (n.5600-28A>T) c.6146-28A>T (n.6146-28A>T) c.5963-28A>T (n.5963-28A>T) c.5684-28A>T (n.5684-28A>T) c.4727-28A>T (n.4727-28A>T) c.4718-28A>T (n.4718-28A>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37045416T>C | CA2578289491 | NIPBL | c.6344-27T>C (n.6344-27T>C) c.1-19162T>C (n.1-19162T>C) c.5600-27T>C (n.5600-27T>C) c.6146-27T>C (n.6146-27T>C) c.5963-27T>C (n.5963-27T>C) c.5684-27T>C (n.5684-27T>C) c.4727-27T>C (n.4727-27T>C) c.4718-27T>C (n.4718-27T>C) | |
5 | g.37045417A>G | CA2673581615 | NIPBL | c.6344-26A>G (n.6344-26A>G) c.1-19161A>G (n.1-19161A>G) c.5600-26A>G (n.5600-26A>G) c.6146-26A>G (n.6146-26A>G) c.5963-26A>G (n.5963-26A>G) c.5684-26A>G (n.5684-26A>G) c.4727-26A>G (n.4727-26A>G) c.4718-26A>G (n.4718-26A>G) | gnomAD v4 |
5 | g.37045417_37045425del | CA2673581616 | NIPBL | c.6344-26_6344-18del (n.6344-26_6344-18del) c.1-19161_1-19153del (n.1-19161_1-19153del) c.5600-26_5600-18del (n.5600-26_5600-18del) c.6146-26_6146-18del (n.6146-26_6146-18del) c.5963-26_5963-18del (n.5963-26_5963-18del) c.5684-26_5684-18del (n.5684-26_5684-18del) c.4727-26_4727-18del (n.4727-26_4727-18del) c.4718-26_4718-18del (n.4718-26_4718-18del) | gnomAD v4 |
5 | g.37045418_37045419delinsAG | CA1539618448 | NIPBL | c.6344-25_6344-24delinsAG (n.6344-25_6344-24delinsAG) c.1-19160_1-19159delinsAG (n.1-19160_1-19159delinsAG) c.5600-25_5600-24delinsAG (n.5600-25_5600-24delinsAG) c.6146-25_6146-24delinsAG (n.6146-25_6146-24delinsAG) c.5963-25_5963-24delinsAG (n.5963-25_5963-24delinsAG) c.5684-25_5684-24delinsAG (n.5684-25_5684-24delinsAG) c.4727-25_4727-24delinsAG (n.4727-25_4727-24delinsAG) c.4718-25_4718-24delinsAG (n.4718-25_4718-24delinsAG) | |
5 | g.37045419del | CA559295260 | NIPBL | c.6344-24del (n.6344-24del) c.1-19159del (n.1-19159del) c.5600-24del (n.5600-24del) c.6146-24del (n.6146-24del) c.5963-24del (n.5963-24del) c.5684-24del (n.5684-24del) c.4727-24del (n.4727-24del) c.4718-24del (n.4718-24del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37045419G>T | CA2673581617 | NIPBL | c.6344-24G>T (n.6344-24G>T) c.1-19159G>T (n.1-19159G>T) c.5600-24G>T (n.5600-24G>T) c.6146-24G>T (n.6146-24G>T) c.5963-24G>T (n.5963-24G>T) c.5684-24G>T (n.5684-24G>T) c.4727-24G>T (n.4727-24G>T) c.4718-24G>T (n.4718-24G>T) | gnomAD v4 |
5 | g.37045419_37045423delinsGTAAA | CA1539618450 | NIPBL | c.6344-24_6344-20delinsGTAAA (n.6344-24_6344-20delinsGTAAA) c.1-19159_1-19155delinsGTAAA (n.1-19159_1-19155delinsGTAAA) c.5600-24_5600-20delinsGTAAA (n.5600-24_5600-20delinsGTAAA) c.6146-24_6146-20delinsGTAAA (n.6146-24_6146-20delinsGTAAA) c.5963-24_5963-20delinsGTAAA (n.5963-24_5963-20delinsGTAAA) c.5684-24_5684-20delinsGTAAA (n.5684-24_5684-20delinsGTAAA) c.4727-24_4727-20delinsGTAAA (n.4727-24_4727-20delinsGTAAA) c.4718-24_4718-20delinsGTAAA (n.4718-24_4718-20delinsGTAAA) | |
5 | g.37045420T>C | CA1539618453 | NIPBL | c.6344-23T>C (n.6344-23T>C) c.1-19158T>C (n.1-19158T>C) c.5600-23T>C (n.5600-23T>C) c.6146-23T>C (n.6146-23T>C) c.5963-23T>C (n.5963-23T>C) c.5684-23T>C (n.5684-23T>C) c.4727-23T>C (n.4727-23T>C) c.4718-23T>C (n.4718-23T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37045420T= | CA1539618451 | NIPBL | c.6344-23T= (n.6344-23T=) c.1-19158T= (n.1-19158T=) c.5600-23T= (n.5600-23T=) c.6146-23T= (n.6146-23T=) c.5963-23T= (n.5963-23T=) c.5684-23T= (n.5684-23T=) c.4727-23T= (n.4727-23T=) c.4718-23T= (n.4718-23T=) | |
5 | g.37045422_37045425del | CA559295261 | NIPBL | c.6344-21_6344-18del (n.6344-21_6344-18del) c.1-19156_1-19153del (n.1-19156_1-19153del) c.5600-21_5600-18del (n.5600-21_5600-18del) c.6146-21_6146-18del (n.6146-21_6146-18del) c.5963-21_5963-18del (n.5963-21_5963-18del) c.5684-21_5684-18del (n.5684-21_5684-18del) c.4727-21_4727-18del (n.4727-21_4727-18del) c.4718-21_4718-18del (n.4718-21_4718-18del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37045421A= | CA1539618454 | NIPBL | c.6344-22A= (n.6344-22A=) c.1-19157A= (n.1-19157A=) c.5600-22A= (n.5600-22A=) c.6146-22A= (n.6146-22A=) c.5963-22A= (n.5963-22A=) c.5684-22A= (n.5684-22A=) c.4727-22A= (n.4727-22A=) c.4718-22A= (n.4718-22A=) | |
5 | g.37045421A>C | CA2527809073 | NIPBL | c.6344-22A>C (n.6344-22A>C) c.1-19157A>C (n.1-19157A>C) c.5600-22A>C (n.5600-22A>C) c.6146-22A>C (n.6146-22A>C) c.5963-22A>C (n.5963-22A>C) c.5684-22A>C (n.5684-22A>C) c.4727-22A>C (n.4727-22A>C) c.4718-22A>C (n.4718-22A>C) | gnomAD v4 |
5 | g.37045421A>T | CA559295262 | NIPBL | c.6344-22A>T (n.6344-22A>T) c.1-19157A>T (n.1-19157A>T) c.5600-22A>T (n.5600-22A>T) c.6146-22A>T (n.6146-22A>T) c.5963-22A>T (n.5963-22A>T) c.5684-22A>T (n.5684-22A>T) c.4727-22A>T (n.4727-22A>T) c.4718-22A>T (n.4718-22A>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37045423del | CA2673581618 | NIPBL | c.6344-20del (n.6344-20del) c.1-19155del (n.1-19155del) c.5600-20del (n.5600-20del) c.6146-20del (n.6146-20del) c.5963-20del (n.5963-20del) c.5684-20del (n.5684-20del) c.4727-20del (n.4727-20del) c.4718-20del (n.4718-20del) | gnomAD v4 |
5 | g.37045422A= | CA1539618455 | NIPBL | c.6344-21A= (n.6344-21A=) c.1-19156A= (n.1-19156A=) c.5600-21A= (n.5600-21A=) c.6146-21A= (n.6146-21A=) c.5963-21A= (n.5963-21A=) c.5684-21A= (n.5684-21A=) c.4727-21A= (n.4727-21A=) c.4718-21A= (n.4718-21A=) | |
5 | g.37045422A>C | CA3236991 | NIPBL | c.6344-21A>C (n.6344-21A>C) c.1-19156A>C (n.1-19156A>C) c.5600-21A>C (n.5600-21A>C) c.6146-21A>C (n.6146-21A>C) c.5963-21A>C (n.5963-21A>C) c.5684-21A>C (n.5684-21A>C) c.4727-21A>C (n.4727-21A>C) c.4718-21A>C (n.4718-21A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37045423A= | CA1539618456 | NIPBL | c.6344-20A= (n.6344-20A=) c.1-19155A= (n.1-19155A=) c.5600-20A= (n.5600-20A=) c.6146-20A= (n.6146-20A=) c.5963-20A= (n.5963-20A=) c.5684-20A= (n.5684-20A=) c.4727-20A= (n.4727-20A=) c.4718-20A= (n.4718-20A=) | |
5 | g.37045423A>G | CA1539618457 | NIPBL | c.6344-20A>G (n.6344-20A>G) c.1-19155A>G (n.1-19155A>G) c.5600-20A>G (n.5600-20A>G) c.6146-20A>G (n.6146-20A>G) c.5963-20A>G (n.5963-20A>G) c.5684-20A>G (n.5684-20A>G) c.4727-20A>G (n.4727-20A>G) c.4718-20A>G (n.4718-20A>G) | dbSNP |
5 | g.37045424del | CA2673581619 | NIPBL | c.6344-19del (n.6344-19del) c.1-19154del (n.1-19154del) c.5600-19del (n.5600-19del) c.6146-19del (n.6146-19del) c.5963-19del (n.5963-19del) c.5684-19del (n.5684-19del) c.4727-19del (n.4727-19del) c.4718-19del (n.4718-19del) | gnomAD v4 |
5 | g.37045424T>C | CA2673581620 | NIPBL | c.6344-19T>C (n.6344-19T>C) c.1-19154T>C (n.1-19154T>C) c.5600-19T>C (n.5600-19T>C) c.6146-19T>C (n.6146-19T>C) c.5963-19T>C (n.5963-19T>C) c.5684-19T>C (n.5684-19T>C) c.4727-19T>C (n.4727-19T>C) c.4718-19T>C (n.4718-19T>C) | gnomAD v4 |
5 | g.37045425A>G | CA2673581621 | NIPBL | c.6344-18A>G (n.6344-18A>G) c.1-19153A>G (n.1-19153A>G) c.5600-18A>G (n.5600-18A>G) c.6146-18A>G (n.6146-18A>G) c.5963-18A>G (n.5963-18A>G) c.5684-18A>G (n.5684-18A>G) c.4727-18A>G (n.4727-18A>G) c.4718-18A>G (n.4718-18A>G) | gnomAD v4 |
5 | g.37045425A>T | CA2578289492 | NIPBL | c.6344-18A>T (n.6344-18A>T) c.1-19153A>T (n.1-19153A>T) c.5600-18A>T (n.5600-18A>T) c.6146-18A>T (n.6146-18A>T) c.5963-18A>T (n.5963-18A>T) c.5684-18A>T (n.5684-18A>T) c.4727-18A>T (n.4727-18A>T) c.4718-18A>T (n.4718-18A>T) | |
5 | g.37045426T>C | CA559295285 | NIPBL | c.6344-17T>C (n.6344-17T>C) c.1-19152T>C (n.1-19152T>C) c.5600-17T>C (n.5600-17T>C) c.6146-17T>C (n.6146-17T>C) c.5963-17T>C (n.5963-17T>C) c.5684-17T>C (n.5684-17T>C) c.4727-17T>C (n.4727-17T>C) c.4718-17T>C (n.4718-17T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045426T= | CA1539618458 | NIPBL | c.6344-17T= (n.6344-17T=) c.1-19152T= (n.1-19152T=) c.5600-17T= (n.5600-17T=) c.6146-17T= (n.6146-17T=) c.5963-17T= (n.5963-17T=) c.5684-17T= (n.5684-17T=) c.4727-17T= (n.4727-17T=) c.4718-17T= (n.4718-17T=) | |
5 | g.37045429_37045432del | CA2673581622 | NIPBL | c.6344-14_6344-11del (n.6344-14_6344-11del) c.1-19149_1-19146del (n.1-19149_1-19146del) c.5600-14_5600-11del (n.5600-14_5600-11del) c.6146-14_6146-11del (n.6146-14_6146-11del) c.5963-14_5963-11del (n.5963-14_5963-11del) c.5684-14_5684-11del (n.5684-14_5684-11del) c.4727-14_4727-11del (n.4727-14_4727-11del) c.4718-14_4718-11del (n.4718-14_4718-11del) | gnomAD v4 |
5 | g.37045428_37045430del | CA2673581623 | NIPBL | c.6344-15_6344-13del (n.6344-15_6344-13del) c.1-19150_1-19148del (n.1-19150_1-19148del) c.5600-15_5600-13del (n.5600-15_5600-13del) c.6146-15_6146-13del (n.6146-15_6146-13del) c.5963-15_5963-13del (n.5963-15_5963-13del) c.5684-15_5684-13del (n.5684-15_5684-13del) c.4727-15_4727-13del (n.4727-15_4727-13del) c.4718-15_4718-13del (n.4718-15_4718-13del) | gnomAD v4 |
5 | g.37045429C>T | CA649811332 | NIPBL | c.6344-14C>T (n.6344-14C>T) c.1-19149C>T (n.1-19149C>T) c.5600-14C>T (n.5600-14C>T) c.6146-14C>T (n.6146-14C>T) c.5963-14C>T (n.5963-14C>T) c.5684-14C>T (n.5684-14C>T) c.4727-14C>T (n.4727-14C>T) c.4718-14C>T (n.4718-14C>T) | COSMIC |
5 | g.37045430T>C | CA3236992 | NIPBL | c.6344-13T>C (n.6344-13T>C) c.1-19148T>C (n.1-19148T>C) c.5600-13T>C (n.5600-13T>C) c.6146-13T>C (n.6146-13T>C) c.5963-13T>C (n.5963-13T>C) c.5684-13T>C (n.5684-13T>C) c.4727-13T>C (n.4727-13T>C) c.4718-13T>C (n.4718-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045430T>G | CA1539618461 | NIPBL | c.6344-13T>G (n.6344-13T>G) c.1-19148T>G (n.1-19148T>G) c.5600-13T>G (n.5600-13T>G) c.6146-13T>G (n.6146-13T>G) c.5963-13T>G (n.5963-13T>G) c.5684-13T>G (n.5684-13T>G) c.4727-13T>G (n.4727-13T>G) c.4718-13T>G (n.4718-13T>G) | dbSNP |
5 | g.37045430T= | CA1539618460 | NIPBL | c.6344-13T= (n.6344-13T=) c.1-19148T= (n.1-19148T=) c.5600-13T= (n.5600-13T=) c.6146-13T= (n.6146-13T=) c.5963-13T= (n.5963-13T=) c.5684-13T= (n.5684-13T=) c.4727-13T= (n.4727-13T=) c.4718-13T= (n.4718-13T=) | |
5 | g.37045434_37045439del | CA2695204414 | NIPBL | c.6344-9_6344-4del (n.6344-9_6344-4del) c.1-19144_1-19139del (n.1-19144_1-19139del) c.5600-9_5600-4del (n.5600-9_5600-4del) c.6146-9_6146-4del (n.6146-9_6146-4del) c.5963-9_5963-4del (n.5963-9_5963-4del) c.5684-9_5684-4del (n.5684-9_5684-4del) c.4727-9_4727-4del (n.4727-9_4727-4del) c.4718-9_4718-4del (n.4718-9_4718-4del) | |
5 | g.37045432A= | CA1539618462 | NIPBL | c.6344-11A= (n.6344-11A=) c.1-19146A= (n.1-19146A=) c.5600-11A= (n.5600-11A=) c.6146-11A= (n.6146-11A=) c.5963-11A= (n.5963-11A=) c.5684-11A= (n.5684-11A=) c.4727-11A= (n.4727-11A=) c.4718-11A= (n.4718-11A=) | |
5 | g.37045432A>G | CA117046333 | NIPBL | c.6344-11A>G (n.6344-11A>G) c.1-19146A>G (n.1-19146A>G) c.5600-11A>G (n.5600-11A>G) c.6146-11A>G (n.6146-11A>G) c.5963-11A>G (n.5963-11A>G) c.5684-11A>G (n.5684-11A>G) c.4727-11A>G (n.4727-11A>G) c.4718-11A>G (n.4718-11A>G) | dbSNP gnomAD v4 |
5 | g.37045433T>A | CA1075097121 | NIPBL | c.6344-10T>A (n.6344-10T>A) c.1-19145T>A (n.1-19145T>A) c.5600-10T>A (n.5600-10T>A) c.6146-10T>A (n.6146-10T>A) c.5963-10T>A (n.5963-10T>A) c.5684-10T>A (n.5684-10T>A) c.4727-10T>A (n.4727-10T>A) c.4718-10T>A (n.4718-10T>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37045433T>C | CA3236993 | NIPBL | c.6344-10T>C (n.6344-10T>C) c.1-19145T>C (n.1-19145T>C) c.5600-10T>C (n.5600-10T>C) c.6146-10T>C (n.6146-10T>C) c.5963-10T>C (n.5963-10T>C) c.5684-10T>C (n.5684-10T>C) c.4727-10T>C (n.4727-10T>C) c.4718-10T>C (n.4718-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37045433T= | CA1539618464 | NIPBL | c.6344-10T= (n.6344-10T=) c.1-19145T= (n.1-19145T=) c.5600-10T= (n.5600-10T=) c.6146-10T= (n.6146-10T=) c.5963-10T= (n.5963-10T=) c.5684-10T= (n.5684-10T=) c.4727-10T= (n.4727-10T=) c.4718-10T= (n.4718-10T=) | |
5 | g.37045434C>A | CA2673581624 | NIPBL | c.6344-9C>A (n.6344-9C>A) c.1-19144C>A (n.1-19144C>A) c.5600-9C>A (n.5600-9C>A) c.6146-9C>A (n.6146-9C>A) c.5963-9C>A (n.5963-9C>A) c.5684-9C>A (n.5684-9C>A) c.4727-9C>A (n.4727-9C>A) c.4718-9C>A (n.4718-9C>A) | gnomAD v4 |
5 | g.37045434C>T | CA2673581625 | NIPBL | c.6344-9C>T (n.6344-9C>T) c.1-19144C>T (n.1-19144C>T) c.5600-9C>T (n.5600-9C>T) c.6146-9C>T (n.6146-9C>T) c.5963-9C>T (n.5963-9C>T) c.5684-9C>T (n.5684-9C>T) c.4727-9C>T (n.4727-9C>T) c.4718-9C>T (n.4718-9C>T) | gnomAD v4 |
5 | g.37045435T>G | CA2578289495 | NIPBL | c.6344-8T>G (n.6344-8T>G) c.1-19143T>G (n.1-19143T>G) c.5600-8T>G (n.5600-8T>G) c.6146-8T>G (n.6146-8T>G) c.5963-8T>G (n.5963-8T>G) c.5684-8T>G (n.5684-8T>G) c.4727-8T>G (n.4727-8T>G) c.4718-8T>G (n.4718-8T>G) | gnomAD v4 |
5 | g.37045438A>G | CA2578289496 | NIPBL | c.6344-5A>G (n.6344-5A>G) c.1-19140A>G (n.1-19140A>G) c.5600-5A>G (n.5600-5A>G) c.6146-5A>G (n.6146-5A>G) c.5963-5A>G (n.5963-5A>G) c.5684-5A>G (n.5684-5A>G) c.4727-5A>G (n.4727-5A>G) c.4718-5A>G (n.4718-5A>G) | |
5 | g.37045440T>C | CA2673581626 | NIPBL | c.6344-3T>C (n.6344-3T>C) c.1-19138T>C (n.1-19138T>C) c.5600-3T>C (n.5600-3T>C) c.6146-3T>C (n.6146-3T>C) c.5963-3T>C (n.5963-3T>C) c.5684-3T>C (n.5684-3T>C) c.4727-3T>C (n.4727-3T>C) c.4718-3T>C (n.4718-3T>C) | gnomAD v4 |
5 | g.37045441A>C | CA359503915 | NIPBL | c.6344-2A>C (n.6344-2A>C) c.1-19137A>C (n.1-19137A>C) c.5600-2A>C (n.5600-2A>C) c.6146-2A>C (n.6146-2A>C) c.5963-2A>C (n.5963-2A>C) c.5684-2A>C (n.5684-2A>C) c.4727-2A>C (n.4727-2A>C) c.4718-2A>C (n.4718-2A>C) | |
5 | g.37045441A>G | CA359503916 | NIPBL | c.6344-2A>G (n.6344-2A>G) c.1-19137A>G (n.1-19137A>G) c.5600-2A>G (n.5600-2A>G) c.6146-2A>G (n.6146-2A>G) c.5963-2A>G (n.5963-2A>G) c.5684-2A>G (n.5684-2A>G) c.4727-2A>G (n.4727-2A>G) c.4718-2A>G (n.4718-2A>G) | |
5 | g.37045441A>T | CA359503923 | NIPBL | c.6344-2A>T (n.6344-2A>T) c.1-19137A>T (n.1-19137A>T) c.5600-2A>T (n.5600-2A>T) c.6146-2A>T (n.6146-2A>T) c.5963-2A>T (n.5963-2A>T) c.5684-2A>T (n.5684-2A>T) c.4727-2A>T (n.4727-2A>T) c.4718-2A>T (n.4718-2A>T) | |
5 | g.37045442G>A | CA359503925 | NIPBL | c.6344-1G>A (n.6344-1G>A) c.1-19136G>A (n.1-19136G>A) c.5600-1G>A (n.5600-1G>A) c.6146-1G>A (n.6146-1G>A) c.5963-1G>A (n.5963-1G>A) c.5684-1G>A (n.5684-1G>A) c.4727-1G>A (n.4727-1G>A) c.4718-1G>A (n.4718-1G>A) | ClinVar |
5 | g.37045442G>C | CA359503931 | NIPBL | c.6344-1G>C (n.6344-1G>C) c.1-19136G>C (n.1-19136G>C) c.5600-1G>C (n.5600-1G>C) c.6146-1G>C (n.6146-1G>C) c.5963-1G>C (n.5963-1G>C) c.5684-1G>C (n.5684-1G>C) c.4727-1G>C (n.4727-1G>C) c.4718-1G>C (n.4718-1G>C) | |
5 | g.37045442G>T | CA359503941 | NIPBL | c.6344-1G>T (n.6344-1G>T) c.1-19136G>T (n.1-19136G>T) c.5600-1G>T (n.5600-1G>T) c.6146-1G>T (n.6146-1G>T) c.5963-1G>T (n.5963-1G>T) c.5684-1G>T (n.5684-1G>T) c.4727-1G>T (n.4727-1G>T) c.4718-1G>T (n.4718-1G>T) | |
5 | g.37045443G>A | CA359503944 | NIPBL | c.6344G>A (p.Gly2115Asp) c.1-19135G>A (n.1-19135G>A) c.5600G>A (p.Gly1867Asp) c.6146G>A (p.Gly2049Asp) c.5963G>A (p.Gly1988Asp) c.5684G>A (p.Gly1895Asp) c.4727G>A (p.Gly1576Asp) c.4718G>A (p.Gly1573Asp) | |
5 | g.37045443G>C | CA359503947 | NIPBL | c.6344G>C (p.Gly2115Ala) c.1-19135G>C (n.1-19135G>C) c.5600G>C (p.Gly1867Ala) c.6146G>C (p.Gly2049Ala) c.5963G>C (p.Gly1988Ala) c.5684G>C (p.Gly1895Ala) c.4727G>C (p.Gly1576Ala) c.4718G>C (p.Gly1573Ala) | |
5 | g.37045443G>T | CA359503950 | NIPBL | c.6344G>T (p.Gly2115Val) c.1-19135G>T (n.1-19135G>T) c.5600G>T (p.Gly1867Val) c.6146G>T (p.Gly2049Val) c.5963G>T (p.Gly1988Val) c.5684G>T (p.Gly1895Val) c.4727G>T (p.Gly1576Val) c.4718G>T (p.Gly1573Val) | |
5 | g.37045444T>A | CA443906546 | NIPBL | c.6345T>A (p.Gly2115=) c.1-19134T>A (n.1-19134T>A) c.5601T>A (p.Gly1867=) c.6147T>A (p.Gly2049=) c.5964T>A (p.Gly1988=) c.5685T>A (p.Gly1895=) c.4728T>A (p.Gly1576=) c.4719T>A (p.Gly1573=) | |
5 | g.37045444T>C | CA443906549 | NIPBL | c.6345T>C (p.Gly2115=) c.1-19134T>C (n.1-19134T>C) c.5601T>C (p.Gly1867=) c.6147T>C (p.Gly2049=) c.5964T>C (p.Gly1988=) c.5685T>C (p.Gly1895=) c.4728T>C (p.Gly1576=) c.4719T>C (p.Gly1573=) | gnomAD v4 |
5 | g.37045444T>G | CA443906552 | NIPBL | c.6345T>G (p.Gly2115=) c.1-19134T>G (n.1-19134T>G) c.5601T>G (p.Gly1867=) c.6147T>G (p.Gly2049=) c.5964T>G (p.Gly1988=) c.5685T>G (p.Gly1895=) c.4728T>G (p.Gly1576=) c.4719T>G (p.Gly1573=) | |
5 | g.37045445G>A | CA359503952 | NIPBL | c.6346G>A (p.Ala2116Thr) c.1-19133G>A (n.1-19133G>A) c.5602G>A (p.Ala1868Thr) c.6148G>A (p.Ala2050Thr) c.5965G>A (p.Ala1989Thr) c.5686G>A (p.Ala1896Thr) c.4729G>A (p.Ala1577Thr) c.4720G>A (p.Ala1574Thr) | gnomAD v3 gnomAD v4 |
5 | g.37045445G>C | CA359503953 | NIPBL | c.6346G>C (p.Ala2116Pro) c.1-19133G>C (n.1-19133G>C) c.5602G>C (p.Ala1868Pro) c.6148G>C (p.Ala2050Pro) c.5965G>C (p.Ala1989Pro) c.5686G>C (p.Ala1896Pro) c.4729G>C (p.Ala1577Pro) c.4720G>C (p.Ala1574Pro) | |
5 | g.37045445G>T | CA359503954 | NIPBL | c.6346G>T (p.Ala2116Ser) c.1-19133G>T (n.1-19133G>T) c.5602G>T (p.Ala1868Ser) c.6148G>T (p.Ala2050Ser) c.5965G>T (p.Ala1989Ser) c.5686G>T (p.Ala1896Ser) c.4729G>T (p.Ala1577Ser) c.4720G>T (p.Ala1574Ser) | |
5 | g.37045446C>A | CA359503959 | NIPBL | c.6347C>A (p.Ala2116Asp) c.1-19132C>A (n.1-19132C>A) c.5603C>A (p.Ala1868Asp) c.6149C>A (p.Ala2050Asp) c.5966C>A (p.Ala1989Asp) c.5687C>A (p.Ala1896Asp) c.4730C>A (p.Ala1577Asp) c.4721C>A (p.Ala1574Asp) | |
5 | g.37045446C>G | CA359503961 | NIPBL | c.6347C>G (p.Ala2116Gly) c.1-19132C>G (n.1-19132C>G) c.5603C>G (p.Ala1868Gly) c.6149C>G (p.Ala2050Gly) c.5966C>G (p.Ala1989Gly) c.5687C>G (p.Ala1896Gly) c.4730C>G (p.Ala1577Gly) c.4721C>G (p.Ala1574Gly) | |
5 | g.37045446C>T | CA359503957 | NIPBL | c.6347C>T (p.Ala2116Val) c.1-19132C>T (n.1-19132C>T) c.5603C>T (p.Ala1868Val) c.6149C>T (p.Ala2050Val) c.5966C>T (p.Ala1989Val) c.5687C>T (p.Ala1896Val) c.4730C>T (p.Ala1577Val) c.4721C>T (p.Ala1574Val) | gnomAD v4 |
5 | g.37045447C>A | CA443906568 | NIPBL | c.6348C>A (p.Ala2116=) c.1-19131C>A (n.1-19131C>A) c.5604C>A (p.Ala1868=) c.6150C>A (p.Ala2050=) c.5967C>A (p.Ala1989=) c.5688C>A (p.Ala1896=) c.4731C>A (p.Ala1577=) c.4722C>A (p.Ala1574=) | gnomAD v4 |
5 | g.37045447C= | CA1539618466 | NIPBL | c.6348C= (p.Ala2116=) c.1-19131C= (n.1-19131C=) c.5604C= (p.Ala1868=) c.6150C= (p.Ala2050=) c.5967C= (p.Ala1989=) c.5688C= (p.Ala1896=) c.4731C= (p.Ala1577=) c.4722C= (p.Ala1574=) | |
5 | g.37045447C>G | CA443906572 | NIPBL | c.6348C>G (p.Ala2116=) c.1-19131C>G (n.1-19131C>G) c.5604C>G (p.Ala1868=) c.6150C>G (p.Ala2050=) c.5967C>G (p.Ala1989=) c.5688C>G (p.Ala1896=) c.4731C>G (p.Ala1577=) c.4722C>G (p.Ala1574=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37045447C>T | CA443906570 | NIPBL | c.6348C>T (p.Ala2116=) c.1-19131C>T (n.1-19131C>T) c.5604C>T (p.Ala1868=) c.6150C>T (p.Ala2050=) c.5967C>T (p.Ala1989=) c.5688C>T (p.Ala1896=) c.4731C>T (p.Ala1577=) c.4722C>T (p.Ala1574=) | |
5 | g.37045448A>C | CA359503963 | NIPBL | c.6349A>C (p.Ile2117Leu) c.1-19130A>C (n.1-19130A>C) c.5605A>C (p.Ile1869Leu) c.6151A>C (p.Ile2051Leu) c.5968A>C (p.Ile1990Leu) c.5689A>C (p.Ile1897Leu) c.4732A>C (p.Ile1578Leu) c.4723A>C (p.Ile1575Leu) | gnomAD v4 |
5 | g.37045448A>G | CA359503967 | NIPBL | c.6349A>G (p.Ile2117Val) c.1-19130A>G (n.1-19130A>G) c.5605A>G (p.Ile1869Val) c.6151A>G (p.Ile2051Val) c.5968A>G (p.Ile1990Val) c.5689A>G (p.Ile1897Val) c.4732A>G (p.Ile1578Val) c.4723A>G (p.Ile1575Val) | |
5 | g.37045448A>T | CA359503964 | NIPBL | c.6349A>T (p.Ile2117Phe) c.1-19130A>T (n.1-19130A>T) c.5605A>T (p.Ile1869Phe) c.6151A>T (p.Ile2051Phe) c.5968A>T (p.Ile1990Phe) c.5689A>T (p.Ile1897Phe) c.4732A>T (p.Ile1578Phe) c.4723A>T (p.Ile1575Phe) | |
5 | g.37045449T>A | CA359503970 | NIPBL | c.6350T>A (p.Ile2117Asn) c.1-19129T>A (n.1-19129T>A) c.5606T>A (p.Ile1869Asn) c.6152T>A (p.Ile2051Asn) c.5969T>A (p.Ile1990Asn) c.5690T>A (p.Ile1897Asn) c.4733T>A (p.Ile1578Asn) c.4724T>A (p.Ile1575Asn) | |
5 | g.37045449T>C | CA359503975 | NIPBL | c.6350T>C (p.Ile2117Thr) c.1-19129T>C (n.1-19129T>C) c.5606T>C (p.Ile1869Thr) c.6152T>C (p.Ile2051Thr) c.5969T>C (p.Ile1990Thr) c.5690T>C (p.Ile1897Thr) c.4733T>C (p.Ile1578Thr) c.4724T>C (p.Ile1575Thr) | |
5 | g.37045449T>G | CA359503973 | NIPBL | c.6350T>G (p.Ile2117Ser) c.1-19129T>G (n.1-19129T>G) c.5606T>G (p.Ile1869Ser) c.6152T>G (p.Ile2051Ser) c.5969T>G (p.Ile1990Ser) c.5690T>G (p.Ile1897Ser) c.4733T>G (p.Ile1578Ser) c.4724T>G (p.Ile1575Ser) | |
5 | g.37045450T>A | CA443906582 | NIPBL | c.6351T>A (p.Ile2117=) c.1-19128T>A (n.1-19128T>A) c.5607T>A (p.Ile1869=) c.6153T>A (p.Ile2051=) c.5970T>A (p.Ile1990=) c.5691T>A (p.Ile1897=) c.4734T>A (p.Ile1578=) c.4725T>A (p.Ile1575=) | |
5 | g.37045450T>C | CA443906584 | NIPBL | c.6351T>C (p.Ile2117=) c.1-19128T>C (n.1-19128T>C) c.5607T>C (p.Ile1869=) c.6153T>C (p.Ile2051=) c.5970T>C (p.Ile1990=) c.5691T>C (p.Ile1897=) c.4734T>C (p.Ile1578=) c.4725T>C (p.Ile1575=) | |
5 | g.37045450T>G | CA359503976 | NIPBL | c.6351T>G (p.Ile2117Met) c.1-19128T>G (n.1-19128T>G) c.5607T>G (p.Ile1869Met) c.6153T>G (p.Ile2051Met) c.5970T>G (p.Ile1990Met) c.5691T>G (p.Ile1897Met) c.4734T>G (p.Ile1578Met) c.4725T>G (p.Ile1575Met) | |
5 | g.37045451T>A | CA359503985 | NIPBL | c.6352T>A (p.Ser2118Thr) c.1-19127T>A (n.1-19127T>A) c.5608T>A (p.Ser1870Thr) c.6154T>A (p.Ser2052Thr) c.5971T>A (p.Ser1991Thr) c.5692T>A (p.Ser1898Thr) c.4735T>A (p.Ser1579Thr) c.4726T>A (p.Ser1576Thr) | |
5 | g.37045451T>C | CA359503980 | NIPBL | c.6352T>C (p.Ser2118Pro) c.1-19127T>C (n.1-19127T>C) c.5608T>C (p.Ser1870Pro) c.6154T>C (p.Ser2052Pro) c.5971T>C (p.Ser1991Pro) c.5692T>C (p.Ser1898Pro) c.4735T>C (p.Ser1579Pro) c.4726T>C (p.Ser1576Pro) | |
5 | g.37045451T>G | CA359503983 | NIPBL | c.6352T>G (p.Ser2118Ala) c.1-19127T>G (n.1-19127T>G) c.5608T>G (p.Ser1870Ala) c.6154T>G (p.Ser2052Ala) c.5971T>G (p.Ser1991Ala) c.5692T>G (p.Ser1898Ala) c.4735T>G (p.Ser1579Ala) c.4726T>G (p.Ser1576Ala) | |
5 | g.37045452C>A | CA359503988 | NIPBL | c.6353C>A (p.Ser2118Ter) c.1-19126C>A (n.1-19126C>A) c.5609C>A (p.Ser1870Ter) c.6155C>A (p.Ser2052Ter) c.5972C>A (p.Ser1991Ter) c.5693C>A (p.Ser1898Ter) c.4736C>A (p.Ser1579Ter) c.4727C>A (p.Ser1576Ter) | |
5 | g.37045452C>G | CA359503991 | NIPBL | c.6353C>G (p.Ser2118Ter) c.1-19126C>G (n.1-19126C>G) c.5609C>G (p.Ser1870Ter) c.6155C>G (p.Ser2052Ter) c.5972C>G (p.Ser1991Ter) c.5693C>G (p.Ser1898Ter) c.4736C>G (p.Ser1579Ter) c.4727C>G (p.Ser1576Ter) | |
5 | g.37045452C>T | CA359503994 | NIPBL | c.6353C>T (p.Ser2118Leu) c.1-19126C>T (n.1-19126C>T) c.5609C>T (p.Ser1870Leu) c.6155C>T (p.Ser2052Leu) c.5972C>T (p.Ser1991Leu) c.5693C>T (p.Ser1898Leu) c.4736C>T (p.Ser1579Leu) c.4727C>T (p.Ser1576Leu) | |
5 | g.37045453A>C | CA443906595 | NIPBL | c.6354A>C (p.Ser2118=) c.1-19125A>C (n.1-19125A>C) c.5610A>C (p.Ser1870=) c.6156A>C (p.Ser2052=) c.5973A>C (p.Ser1991=) c.5694A>C (p.Ser1898=) c.4737A>C (p.Ser1579=) c.4728A>C (p.Ser1576=) | |
5 | g.37045453A>G | CA443906597 | NIPBL | c.6354A>G (p.Ser2118=) c.1-19125A>G (n.1-19125A>G) c.5610A>G (p.Ser1870=) c.6156A>G (p.Ser2052=) c.5973A>G (p.Ser1991=) c.5694A>G (p.Ser1898=) c.4737A>G (p.Ser1579=) c.4728A>G (p.Ser1576=) | |
5 | g.37045453A>T | CA443906599 | NIPBL | c.6354A>T (p.Ser2118=) c.1-19125A>T (n.1-19125A>T) c.5610A>T (p.Ser1870=) c.6156A>T (p.Ser2052=) c.5973A>T (p.Ser1991=) c.5694A>T (p.Ser1898=) c.4737A>T (p.Ser1579=) c.4728A>T (p.Ser1576=) | |
5 | g.37045454A>C | CA359503996 | NIPBL | c.6355A>C (p.Lys2119Gln) c.1-19124A>C (n.1-19124A>C) c.5611A>C (p.Lys1871Gln) c.6157A>C (p.Lys2053Gln) c.5974A>C (p.Lys1992Gln) c.5695A>C (p.Lys1899Gln) c.4738A>C (p.Lys1580Gln) c.4729A>C (p.Lys1577Gln) | |
5 | g.37045454A>G | CA359503998 | NIPBL | c.6355A>G (p.Lys2119Glu) c.1-19124A>G (n.1-19124A>G) c.5611A>G (p.Lys1871Glu) c.6157A>G (p.Lys2053Glu) c.5974A>G (p.Lys1992Glu) c.5695A>G (p.Lys1899Glu) c.4738A>G (p.Lys1580Glu) c.4729A>G (p.Lys1577Glu) | |
5 | g.37045454A>T | CA359504003 | NIPBL | c.6355A>T (p.Lys2119Ter) c.1-19124A>T (n.1-19124A>T) c.5611A>T (p.Lys1871Ter) c.6157A>T (p.Lys2053Ter) c.5974A>T (p.Lys1992Ter) c.5695A>T (p.Lys1899Ter) c.4738A>T (p.Lys1580Ter) c.4729A>T (p.Lys1577Ter) | |
5 | g.37045455A= | CA1539618468 | NIPBL | c.6356A= (p.Lys2119=) c.1-19123A= (n.1-19123A=) c.5612A= (p.Lys1871=) c.6158A= (p.Lys2053=) c.5975A= (p.Lys1992=) c.5696A= (p.Lys1899=) c.4739A= (p.Lys1580=) c.4730A= (p.Lys1577=) | |
5 | g.37045455A>C | CA359504009 | NIPBL | c.6356A>C (p.Lys2119Thr) c.1-19123A>C (n.1-19123A>C) c.5612A>C (p.Lys1871Thr) c.6158A>C (p.Lys2053Thr) c.5975A>C (p.Lys1992Thr) c.5696A>C (p.Lys1899Thr) c.4739A>C (p.Lys1580Thr) c.4730A>C (p.Lys1577Thr) | |
5 | g.37045455A>G | CA117046355 | NIPBL | c.6356A>G (p.Lys2119Arg) c.1-19123A>G (n.1-19123A>G) c.5612A>G (p.Lys1871Arg) c.6158A>G (p.Lys2053Arg) c.5975A>G (p.Lys1992Arg) c.5696A>G (p.Lys1899Arg) c.4739A>G (p.Lys1580Arg) c.4730A>G (p.Lys1577Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.37045455A>T | CA359504018 | NIPBL | c.6356A>T (p.Lys2119Ile) c.1-19123A>T (n.1-19123A>T) c.5612A>T (p.Lys1871Ile) c.6158A>T (p.Lys2053Ile) c.5975A>T (p.Lys1992Ile) c.5696A>T (p.Lys1899Ile) c.4739A>T (p.Lys1580Ile) c.4730A>T (p.Lys1577Ile) | |
5 | g.37045456A>C | CA359504025 | NIPBL | c.6357A>C (p.Lys2119Asn) c.1-19122A>C (n.1-19122A>C) c.5613A>C (p.Lys1871Asn) c.6159A>C (p.Lys2053Asn) c.5976A>C (p.Lys1992Asn) c.5697A>C (p.Lys1899Asn) c.4740A>C (p.Lys1580Asn) c.4731A>C (p.Lys1577Asn) | |
5 | g.37045456A>G | CA443906612 | NIPBL | c.6357A>G (p.Lys2119=) c.1-19122A>G (n.1-19122A>G) c.5613A>G (p.Lys1871=) c.6159A>G (p.Lys2053=) c.5976A>G (p.Lys1992=) c.5697A>G (p.Lys1899=) c.4740A>G (p.Lys1580=) c.4731A>G (p.Lys1577=) | gnomAD v4 |
5 | g.37045456A>T | CA359504027 | NIPBL | c.6357A>T (p.Lys2119Asn) c.1-19122A>T (n.1-19122A>T) c.5613A>T (p.Lys1871Asn) c.6159A>T (p.Lys2053Asn) c.5976A>T (p.Lys1992Asn) c.5697A>T (p.Lys1899Asn) c.4740A>T (p.Lys1580Asn) c.4731A>T (p.Lys1577Asn) | |
5 | g.37045457T>A | CA359504034 | NIPBL | c.6358T>A (p.Leu2120Ile) c.1-19121T>A (n.1-19121T>A) c.5614T>A (p.Leu1872Ile) c.6160T>A (p.Leu2054Ile) c.5977T>A (p.Leu1993Ile) c.5698T>A (p.Leu1900Ile) c.4741T>A (p.Leu1581Ile) c.4732T>A (p.Leu1578Ile) | |
5 | g.37045457T>C | CA443906614 | NIPBL | c.6358T>C (p.Leu2120=) c.1-19121T>C (n.1-19121T>C) c.5614T>C (p.Leu1872=) c.6160T>C (p.Leu2054=) c.5977T>C (p.Leu1993=) c.5698T>C (p.Leu1900=) c.4741T>C (p.Leu1581=) c.4732T>C (p.Leu1578=) | |
5 | g.37045457T>G | CA359504035 | NIPBL | c.6358T>G (p.Leu2120Val) c.1-19121T>G (n.1-19121T>G) c.5614T>G (p.Leu1872Val) c.6160T>G (p.Leu2054Val) c.5977T>G (p.Leu1993Val) c.5698T>G (p.Leu1900Val) c.4741T>G (p.Leu1581Val) c.4732T>G (p.Leu1578Val) | |
5 | g.37045458T>A | CA359504039 | NIPBL | c.6359T>A (p.Leu2120Ter) c.1-19120T>A (n.1-19120T>A) c.5615T>A (p.Leu1872Ter) c.6161T>A (p.Leu2054Ter) c.5978T>A (p.Leu1993Ter) c.5699T>A (p.Leu1900Ter) c.4742T>A (p.Leu1581Ter) c.4733T>A (p.Leu1578Ter) | COSMIC COSMIC |
5 | g.37045458T>C | CA359504043 | NIPBL | c.6359T>C (p.Leu2120Ser) c.1-19120T>C (n.1-19120T>C) c.5615T>C (p.Leu1872Ser) c.6161T>C (p.Leu2054Ser) c.5978T>C (p.Leu1993Ser) c.5699T>C (p.Leu1900Ser) c.4742T>C (p.Leu1581Ser) c.4733T>C (p.Leu1578Ser) | |
5 | g.37045458T>G | CA359504041 | NIPBL | c.6359T>G (p.Leu2120Ter) c.1-19120T>G (n.1-19120T>G) c.5615T>G (p.Leu1872Ter) c.6161T>G (p.Leu2054Ter) c.5978T>G (p.Leu1993Ter) c.5699T>G (p.Leu1900Ter) c.4742T>G (p.Leu1581Ter) c.4733T>G (p.Leu1578Ter) | ClinVar dbSNP |
5 | g.37045458_37045461delinsTAAA | CA1539618471 | NIPBL | c.6359_6362delinsTAAA (p.Leu2120=) c.1-19120_1-19117delinsTAAA (n.1-19120_1-19117delinsTAAA) c.5615_5618delinsTAAA (p.Leu1872=) c.6161_6164delinsTAAA (p.Leu2054=) c.5978_5981delinsTAAA (p.Leu1993=) c.5699_5702delinsTAAA (p.Leu1900=) c.4742_4745delinsTAAA (p.Leu1581=) c.4733_4736delinsTAAA (p.Leu1578=) | |
5 | g.37045459A>C | CA359504046 | NIPBL | c.6360A>C (p.Leu2120Phe) c.1-19119A>C (n.1-19119A>C) c.5616A>C (p.Leu1872Phe) c.6162A>C (p.Leu2054Phe) c.5979A>C (p.Leu1993Phe) c.5700A>C (p.Leu1900Phe) c.4743A>C (p.Leu1581Phe) c.4734A>C (p.Leu1578Phe) | |
5 | g.37045459A>G | CA443906619 | NIPBL | c.6360A>G (p.Leu2120=) c.1-19119A>G (n.1-19119A>G) c.5616A>G (p.Leu1872=) c.6162A>G (p.Leu2054=) c.5979A>G (p.Leu1993=) c.5700A>G (p.Leu1900=) c.4743A>G (p.Leu1581=) c.4734A>G (p.Leu1578=) | |
5 | g.37045459A>T | CA359504047 | NIPBL | c.6360A>T (p.Leu2120Phe) c.1-19119A>T (n.1-19119A>T) c.5616A>T (p.Leu1872Phe) c.6162A>T (p.Leu2054Phe) c.5979A>T (p.Leu1993Phe) c.5700A>T (p.Leu1900Phe) c.4743A>T (p.Leu1581Phe) c.4734A>T (p.Leu1578Phe) | |
5 | g.37045461_37045463del | CA272225 | NIPBL | c.6362_6364del (p.Lys2121del) c.1-19117_1-19115del (n.1-19117_1-19115del) c.5618_5620del (p.Lys1873del) c.6164_6166del (p.Lys2055del) c.5981_5983del (p.Lys1994del) c.5702_5704del (p.Lys1901del) c.4745_4747del (p.Lys1582del) c.4736_4738del (p.Lys1579del) | ClinVar dbSNP |
5 | g.37045460A>C | CA359504051 | NIPBL | c.6361A>C (p.Lys2121Gln) c.1-19118A>C (n.1-19118A>C) c.5617A>C (p.Lys1873Gln) c.6163A>C (p.Lys2055Gln) c.5980A>C (p.Lys1994Gln) c.5701A>C (p.Lys1901Gln) c.4744A>C (p.Lys1582Gln) c.4735A>C (p.Lys1579Gln) | |
5 | g.37045460A>G | CA359504052 | NIPBL | c.6361A>G (p.Lys2121Glu) c.1-19118A>G (n.1-19118A>G) c.5617A>G (p.Lys1873Glu) c.6163A>G (p.Lys2055Glu) c.5980A>G (p.Lys1994Glu) c.5701A>G (p.Lys1901Glu) c.4744A>G (p.Lys1582Glu) c.4735A>G (p.Lys1579Glu) | |
5 | g.37045460A>T | CA359504055 | NIPBL | c.6361A>T (p.Lys2121Ter) c.1-19118A>T (n.1-19118A>T) c.5617A>T (p.Lys1873Ter) c.6163A>T (p.Lys2055Ter) c.5980A>T (p.Lys1994Ter) c.5701A>T (p.Lys1901Ter) c.4744A>T (p.Lys1582Ter) c.4735A>T (p.Lys1579Ter) | |
5 | g.37045461A= | CA1539618475 | NIPBL | c.6362A= (p.Lys2121=) c.1-19117A= (n.1-19117A=) c.5618A= (p.Lys1873=) c.6164A= (p.Lys2055=) c.5981A= (p.Lys1994=) c.5702A= (p.Lys1901=) c.4745A= (p.Lys1582=) c.4736A= (p.Lys1579=) | |
5 | g.37045461A>C | CA359504059 | NIPBL | c.6362A>C (p.Lys2121Thr) c.1-19117A>C (n.1-19117A>C) c.5618A>C (p.Lys1873Thr) c.6164A>C (p.Lys2055Thr) c.5981A>C (p.Lys1994Thr) c.5702A>C (p.Lys1901Thr) c.4745A>C (p.Lys1582Thr) c.4736A>C (p.Lys1579Thr) | |
5 | g.37045461A>G | CA359504060 | NIPBL | c.6362A>G (p.Lys2121Arg) c.1-19117A>G (n.1-19117A>G) c.5618A>G (p.Lys1873Arg) c.6164A>G (p.Lys2055Arg) c.5981A>G (p.Lys1994Arg) c.5702A>G (p.Lys1901Arg) c.4745A>G (p.Lys1582Arg) c.4736A>G (p.Lys1579Arg) | dbSNP |
5 | g.37045461A>T | CA359504063 | NIPBL | c.6362A>T (p.Lys2121Ile) c.1-19117A>T (n.1-19117A>T) c.5618A>T (p.Lys1873Ile) c.6164A>T (p.Lys2055Ile) c.5981A>T (p.Lys1994Ile) c.5702A>T (p.Lys1901Ile) c.4745A>T (p.Lys1582Ile) c.4736A>T (p.Lys1579Ile) | |
5 | g.37045462A>C | CA359504064 | NIPBL | c.6363A>C (p.Lys2121Asn) c.1-19116A>C (n.1-19116A>C) c.5619A>C (p.Lys1873Asn) c.6165A>C (p.Lys2055Asn) c.5982A>C (p.Lys1994Asn) c.5703A>C (p.Lys1901Asn) c.4746A>C (p.Lys1582Asn) c.4737A>C (p.Lys1579Asn) | |
5 | g.37045462A>G | CA443906634 | NIPBL | c.6363A>G (p.Lys2121=) c.1-19116A>G (n.1-19116A>G) c.5619A>G (p.Lys1873=) c.6165A>G (p.Lys2055=) c.5982A>G (p.Lys1994=) c.5703A>G (p.Lys1901=) c.4746A>G (p.Lys1582=) c.4737A>G (p.Lys1579=) | |
5 | g.37045462A>T | CA359504066 | NIPBL | c.6363A>T (p.Lys2121Asn) c.1-19116A>T (n.1-19116A>T) c.5619A>T (p.Lys1873Asn) c.6165A>T (p.Lys2055Asn) c.5982A>T (p.Lys1994Asn) c.5703A>T (p.Lys1901Asn) c.4746A>T (p.Lys1582Asn) c.4737A>T (p.Lys1579Asn) | |
5 | g.37045463A= | CA1539618476 | NIPBL | c.6364A= (p.Ser2122=) c.1-19115A= (n.1-19115A=) c.5620A= (p.Ser1874=) c.6166A= (p.Ser2056=) c.5983A= (p.Ser1995=) c.5704A= (p.Ser1902=) c.4747A= (p.Ser1583=) c.4738A= (p.Ser1580=) | |
5 | g.37045463A>C | CA359504068 | NIPBL | c.6364A>C (p.Ser2122Arg) c.1-19115A>C (n.1-19115A>C) c.5620A>C (p.Ser1874Arg) c.6166A>C (p.Ser2056Arg) c.5983A>C (p.Ser1995Arg) c.5704A>C (p.Ser1902Arg) c.4747A>C (p.Ser1583Arg) c.4738A>C (p.Ser1580Arg) | |
5 | g.37045463A>G | CA3236994 | NIPBL | c.6364A>G (p.Ser2122Gly) c.1-19115A>G (n.1-19115A>G) c.5620A>G (p.Ser1874Gly) c.6166A>G (p.Ser2056Gly) c.5983A>G (p.Ser1995Gly) c.5704A>G (p.Ser1902Gly) c.4747A>G (p.Ser1583Gly) c.4738A>G (p.Ser1580Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37045463A>T | CA359504069 | NIPBL | c.6364A>T (p.Ser2122Cys) c.1-19115A>T (n.1-19115A>T) c.5620A>T (p.Ser1874Cys) c.6166A>T (p.Ser2056Cys) c.5983A>T (p.Ser1995Cys) c.5704A>T (p.Ser1902Cys) c.4747A>T (p.Ser1583Cys) c.4738A>T (p.Ser1580Cys) | |
5 | g.37045464G>A | CA359504075 | NIPBL | c.6365G>A (p.Ser2122Asn) c.1-19114G>A (n.1-19114G>A) c.5621G>A (p.Ser1874Asn) c.6167G>A (p.Ser2056Asn) c.5984G>A (p.Ser1995Asn) c.5705G>A (p.Ser1902Asn) c.4748G>A (p.Ser1583Asn) c.4739G>A (p.Ser1580Asn) | gnomAD v4 COSMIC COSMIC |
5 | g.37045464G>C | CA359504078 | NIPBL | c.6365G>C (p.Ser2122Thr) c.1-19114G>C (n.1-19114G>C) c.5621G>C (p.Ser1874Thr) c.6167G>C (p.Ser2056Thr) c.5984G>C (p.Ser1995Thr) c.5705G>C (p.Ser1902Thr) c.4748G>C (p.Ser1583Thr) c.4739G>C (p.Ser1580Thr) | |
5 | g.37045464G>T | CA359504079 | NIPBL | c.6365G>T (p.Ser2122Ile) c.1-19114G>T (n.1-19114G>T) c.5621G>T (p.Ser1874Ile) c.6167G>T (p.Ser2056Ile) c.5984G>T (p.Ser1995Ile) c.5705G>T (p.Ser1902Ile) c.4748G>T (p.Ser1583Ile) c.4739G>T (p.Ser1580Ile) | |
5 | g.37045464_37045466del | CA2560312538 | NIPBL | c.6365_6367del (p.Ser2122_Gln2123delinsLys) c.1-19114_1-19112del (n.1-19114_1-19112del) c.5621_5623del (p.Ser1874_Gln1875delinsLys) c.6167_6169del (p.Ser2056_Gln2057delinsLys) c.5984_5986del (p.Ser1995_Gln1996delinsLys) c.5705_5707del (p.Ser1902_Gln1903delinsLys) c.4748_4750del (p.Ser1583_Gln1584delinsLys) c.4739_4741del (p.Ser1580_Gln1581delinsLys) | |
5 | g.37045465T>A | CA359504080 | NIPBL | c.6366T>A (p.Ser2122Arg) c.1-19113T>A (n.1-19113T>A) c.5622T>A (p.Ser1874Arg) c.6168T>A (p.Ser2056Arg) c.5985T>A (p.Ser1995Arg) c.5706T>A (p.Ser1902Arg) c.4749T>A (p.Ser1583Arg) c.4740T>A (p.Ser1580Arg) | |
5 | g.37045465T>C | CA443906650 | NIPBL | c.6366T>C (p.Ser2122=) c.1-19113T>C (n.1-19113T>C) c.5622T>C (p.Ser1874=) c.6168T>C (p.Ser2056=) c.5985T>C (p.Ser1995=) c.5706T>C (p.Ser1902=) c.4749T>C (p.Ser1583=) c.4740T>C (p.Ser1580=) | |
5 | g.37045465T>G | CA359504081 | NIPBL | c.6366T>G (p.Ser2122Arg) c.1-19113T>G (n.1-19113T>G) c.5622T>G (p.Ser1874Arg) c.6168T>G (p.Ser2056Arg) c.5985T>G (p.Ser1995Arg) c.5706T>G (p.Ser1902Arg) c.4749T>G (p.Ser1583Arg) c.4740T>G (p.Ser1580Arg) | |
5 | g.37045466C>A | CA359504082 | NIPBL | c.6367C>A (p.Gln2123Lys) c.1-19112C>A (n.1-19112C>A) c.5623C>A (p.Gln1875Lys) c.6169C>A (p.Gln2057Lys) c.5986C>A (p.Gln1996Lys) c.5707C>A (p.Gln1903Lys) c.4750C>A (p.Gln1584Lys) c.4741C>A (p.Gln1581Lys) | |
5 | g.37045466C>G | CA359504083 | NIPBL | c.6367C>G (p.Gln2123Glu) c.1-19112C>G (n.1-19112C>G) c.5623C>G (p.Gln1875Glu) c.6169C>G (p.Gln2057Glu) c.5986C>G (p.Gln1996Glu) c.5707C>G (p.Gln1903Glu) c.4750C>G (p.Gln1584Glu) c.4741C>G (p.Gln1581Glu) | |
5 | g.37045466C>T | CA359504084 | NIPBL | c.6367C>T (p.Gln2123Ter) c.1-19112C>T (n.1-19112C>T) c.5623C>T (p.Gln1875Ter) c.6169C>T (p.Gln2057Ter) c.5986C>T (p.Gln1996Ter) c.5707C>T (p.Gln1903Ter) c.4750C>T (p.Gln1584Ter) c.4741C>T (p.Gln1581Ter) | |
5 | g.37045467A>C | CA359504085 | NIPBL | c.6368A>C (p.Gln2123Pro) c.1-19111A>C (n.1-19111A>C) c.5624A>C (p.Gln1875Pro) c.6170A>C (p.Gln2057Pro) c.5987A>C (p.Gln1996Pro) c.5708A>C (p.Gln1903Pro) c.4751A>C (p.Gln1584Pro) c.4742A>C (p.Gln1581Pro) | |
5 | g.37045467A>G | CA359504086 | NIPBL | c.6368A>G (p.Gln2123Arg) c.1-19111A>G (n.1-19111A>G) c.5624A>G (p.Gln1875Arg) c.6170A>G (p.Gln2057Arg) c.5987A>G (p.Gln1996Arg) c.5708A>G (p.Gln1903Arg) c.4751A>G (p.Gln1584Arg) c.4742A>G (p.Gln1581Arg) | |
5 | g.37045467A>T | CA359504088 | NIPBL | c.6368A>T (p.Gln2123Leu) c.1-19111A>T (n.1-19111A>T) c.5624A>T (p.Gln1875Leu) c.6170A>T (p.Gln2057Leu) c.5987A>T (p.Gln1996Leu) c.5708A>T (p.Gln1903Leu) c.4751A>T (p.Gln1584Leu) c.4742A>T (p.Gln1581Leu) | gnomAD v4 |
5 | g.37045468A= | CA1539618480 | NIPBL | c.6369A= (p.Gln2123=) c.1-19110A= (n.1-19110A=) c.5625A= (p.Gln1875=) c.6171A= (p.Gln2057=) c.5988A= (p.Gln1996=) c.5709A= (p.Gln1903=) c.4752A= (p.Gln1584=) c.4743A= (p.Gln1581=) | |
5 | g.37045468A>C | CA359504093 | NIPBL | c.6369A>C (p.Gln2123His) c.1-19110A>C (n.1-19110A>C) c.5625A>C (p.Gln1875His) c.6171A>C (p.Gln2057His) c.5988A>C (p.Gln1996His) c.5709A>C (p.Gln1903His) c.4752A>C (p.Gln1584His) c.4743A>C (p.Gln1581His) | |
5 | g.37045468A>G | CA3236995 | NIPBL | c.6369A>G (p.Gln2123=) c.1-19110A>G (n.1-19110A>G) c.5625A>G (p.Gln1875=) c.6171A>G (p.Gln2057=) c.5988A>G (p.Gln1996=) c.5709A>G (p.Gln1903=) c.4752A>G (p.Gln1584=) c.4743A>G (p.Gln1581=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045468A>T | CA359504089 | NIPBL | c.6369A>T (p.Gln2123His) c.1-19110A>T (n.1-19110A>T) c.5625A>T (p.Gln1875His) c.6171A>T (p.Gln2057His) c.5988A>T (p.Gln1996His) c.5709A>T (p.Gln1903His) c.4752A>T (p.Gln1584His) c.4743A>T (p.Gln1581His) | ClinVar dbSNP |
5 | g.37045469C>A | CA359504096 | NIPBL | c.6370C>A (p.His2124Asn) c.1-19109C>A (n.1-19109C>A) c.5626C>A (p.His1876Asn) c.6172C>A (p.His2058Asn) c.5989C>A (p.His1997Asn) c.5710C>A (p.His1904Asn) c.4753C>A (p.His1585Asn) c.4744C>A (p.His1582Asn) | |
5 | g.37045469C>G | CA359504098 | NIPBL | c.6370C>G (p.His2124Asp) c.1-19109C>G (n.1-19109C>G) c.5626C>G (p.His1876Asp) c.6172C>G (p.His2058Asp) c.5989C>G (p.His1997Asp) c.5710C>G (p.His1904Asp) c.4753C>G (p.His1585Asp) c.4744C>G (p.His1582Asp) | |
5 | g.37045469C>T | CA359504100 | NIPBL | c.6370C>T (p.His2124Tyr) c.1-19109C>T (n.1-19109C>T) c.5626C>T (p.His1876Tyr) c.6172C>T (p.His2058Tyr) c.5989C>T (p.His1997Tyr) c.5710C>T (p.His1904Tyr) c.4753C>T (p.His1585Tyr) c.4744C>T (p.His1582Tyr) | |
5 | g.37045470A>C | CA359504104 | NIPBL | c.6371A>C (p.His2124Pro) c.1-19108A>C (n.1-19108A>C) c.5627A>C (p.His1876Pro) c.6173A>C (p.His2058Pro) c.5990A>C (p.His1997Pro) c.5711A>C (p.His1904Pro) c.4754A>C (p.His1585Pro) c.4745A>C (p.His1582Pro) | |
5 | g.37045470A>G | CA359504106 | NIPBL | c.6371A>G (p.His2124Arg) c.1-19108A>G (n.1-19108A>G) c.5627A>G (p.His1876Arg) c.6173A>G (p.His2058Arg) c.5990A>G (p.His1997Arg) c.5711A>G (p.His1904Arg) c.4754A>G (p.His1585Arg) c.4745A>G (p.His1582Arg) | |
5 | g.37045470A>T | CA359504109 | NIPBL | c.6371A>T (p.His2124Leu) c.1-19108A>T (n.1-19108A>T) c.5627A>T (p.His1876Leu) c.6173A>T (p.His2058Leu) c.5990A>T (p.His1997Leu) c.5711A>T (p.His1904Leu) c.4754A>T (p.His1585Leu) c.4745A>T (p.His1582Leu) | |
5 | g.37045471C>A | CA359504116 | NIPBL | c.6372C>A (p.His2124Gln) c.1-19107C>A (n.1-19107C>A) c.5628C>A (p.His1876Gln) c.6174C>A (p.His2058Gln) c.5991C>A (p.His1997Gln) c.5712C>A (p.His1904Gln) c.4755C>A (p.His1585Gln) c.4746C>A (p.His1582Gln) | |
5 | g.37045471C>G | CA359504132 | NIPBL | c.6372C>G (p.His2124Gln) c.1-19107C>G (n.1-19107C>G) c.5628C>G (p.His1876Gln) c.6174C>G (p.His2058Gln) c.5991C>G (p.His1997Gln) c.5712C>G (p.His1904Gln) c.4755C>G (p.His1585Gln) c.4746C>G (p.His1582Gln) | |
5 | g.37045471C>T | CA443906678 | NIPBL | c.6372C>T (p.His2124=) c.1-19107C>T (n.1-19107C>T) c.5628C>T (p.His1876=) c.6174C>T (p.His2058=) c.5991C>T (p.His1997=) c.5712C>T (p.His1904=) c.4755C>T (p.His1585=) c.4746C>T (p.His1582=) | |
5 | g.37045472C>A | CA359504135 | NIPBL | c.6373C>A (p.Gln2125Lys) c.1-19106C>A (n.1-19106C>A) c.5629C>A (p.Gln1877Lys) c.6175C>A (p.Gln2059Lys) c.5992C>A (p.Gln1998Lys) c.5713C>A (p.Gln1905Lys) c.4756C>A (p.Gln1586Lys) c.4747C>A (p.Gln1583Lys) | |
5 | g.37045472C>G | CA359504139 | NIPBL | c.6373C>G (p.Gln2125Glu) c.1-19106C>G (n.1-19106C>G) c.5629C>G (p.Gln1877Glu) c.6175C>G (p.Gln2059Glu) c.5992C>G (p.Gln1998Glu) c.5713C>G (p.Gln1905Glu) c.4756C>G (p.Gln1586Glu) c.4747C>G (p.Gln1583Glu) | |
5 | g.37045472C>T | CA359504141 | NIPBL | c.6373C>T (p.Gln2125Ter) c.1-19106C>T (n.1-19106C>T) c.5629C>T (p.Gln1877Ter) c.6175C>T (p.Gln2059Ter) c.5992C>T (p.Gln1998Ter) c.5713C>T (p.Gln1905Ter) c.4756C>T (p.Gln1586Ter) c.4747C>T (p.Gln1583Ter) | |
5 | g.37045473A>C | CA359504150 | NIPBL | c.6374A>C (p.Gln2125Pro) c.1-19105A>C (n.1-19105A>C) c.5630A>C (p.Gln1877Pro) c.6176A>C (p.Gln2059Pro) c.5993A>C (p.Gln1998Pro) c.5714A>C (p.Gln1905Pro) c.4757A>C (p.Gln1586Pro) c.4748A>C (p.Gln1583Pro) | |
5 | g.37045473A>G | CA359504146 | NIPBL | c.6374A>G (p.Gln2125Arg) c.1-19105A>G (n.1-19105A>G) c.5630A>G (p.Gln1877Arg) c.6176A>G (p.Gln2059Arg) c.5993A>G (p.Gln1998Arg) c.5714A>G (p.Gln1905Arg) c.4757A>G (p.Gln1586Arg) c.4748A>G (p.Gln1583Arg) | |
5 | g.37045473A>T | CA359504145 | NIPBL | c.6374A>T (p.Gln2125Leu) c.1-19105A>T (n.1-19105A>T) c.5630A>T (p.Gln1877Leu) c.6176A>T (p.Gln2059Leu) c.5993A>T (p.Gln1998Leu) c.5714A>T (p.Gln1905Leu) c.4757A>T (p.Gln1586Leu) c.4748A>T (p.Gln1583Leu) | |
5 | g.37045474A>C | CA359504156 | NIPBL | c.6375A>C (p.Gln2125His) c.1-19104A>C (n.1-19104A>C) c.5631A>C (p.Gln1877His) c.6177A>C (p.Gln2059His) c.5994A>C (p.Gln1998His) c.5715A>C (p.Gln1905His) c.4758A>C (p.Gln1586His) c.4749A>C (p.Gln1583His) | |
5 | g.37045474A>G | CA443906692 | NIPBL | c.6375A>G (p.Gln2125=) c.1-19104A>G (n.1-19104A>G) c.5631A>G (p.Gln1877=) c.6177A>G (p.Gln2059=) c.5994A>G (p.Gln1998=) c.5715A>G (p.Gln1905=) c.4758A>G (p.Gln1586=) c.4749A>G (p.Gln1583=) | |
5 | g.37045474A>T | CA359504157 | NIPBL | c.6375A>T (p.Gln2125His) c.1-19104A>T (n.1-19104A>T) c.5631A>T (p.Gln1877His) c.6177A>T (p.Gln2059His) c.5994A>T (p.Gln1998His) c.5715A>T (p.Gln1905His) c.4758A>T (p.Gln1586His) c.4749A>T (p.Gln1583His) | |
5 | g.37045475G>A | CA359504158 | NIPBL | c.6376G>A (p.Glu2126Lys) c.1-19103G>A (n.1-19103G>A) c.5632G>A (p.Glu1878Lys) c.6178G>A (p.Glu2060Lys) c.5995G>A (p.Glu1999Lys) c.5716G>A (p.Glu1906Lys) c.4759G>A (p.Glu1587Lys) c.4750G>A (p.Glu1584Lys) | |
5 | g.37045475G>C | CA359504159 | NIPBL | c.6376G>C (p.Glu2126Gln) c.1-19103G>C (n.1-19103G>C) c.5632G>C (p.Glu1878Gln) c.6178G>C (p.Glu2060Gln) c.5995G>C (p.Glu1999Gln) c.5716G>C (p.Glu1906Gln) c.4759G>C (p.Glu1587Gln) c.4750G>C (p.Glu1584Gln) | |
5 | g.37045475G>T | CA359504161 | NIPBL | c.6376G>T (p.Glu2126Ter) c.1-19103G>T (n.1-19103G>T) c.5632G>T (p.Glu1878Ter) c.6178G>T (p.Glu2060Ter) c.5995G>T (p.Glu1999Ter) c.5716G>T (p.Glu1906Ter) c.4759G>T (p.Glu1587Ter) c.4750G>T (p.Glu1584Ter) | |
5 | g.37045476A>C | CA359504164 | NIPBL | c.6377A>C (p.Glu2126Ala) c.1-19102A>C (n.1-19102A>C) c.5633A>C (p.Glu1878Ala) c.6179A>C (p.Glu2060Ala) c.5996A>C (p.Glu1999Ala) c.5717A>C (p.Glu1906Ala) c.4760A>C (p.Glu1587Ala) c.4751A>C (p.Glu1584Ala) | |
5 | g.37045476A>G | CA359504167 | NIPBL | c.6377A>G (p.Glu2126Gly) c.1-19102A>G (n.1-19102A>G) c.5633A>G (p.Glu1878Gly) c.6179A>G (p.Glu2060Gly) c.5996A>G (p.Glu1999Gly) c.5717A>G (p.Glu1906Gly) c.4760A>G (p.Glu1587Gly) c.4751A>G (p.Glu1584Gly) | |
5 | g.37045476A>T | CA359504169 | NIPBL | c.6377A>T (p.Glu2126Val) c.1-19102A>T (n.1-19102A>T) c.5633A>T (p.Glu1878Val) c.6179A>T (p.Glu2060Val) c.5996A>T (p.Glu1999Val) c.5717A>T (p.Glu1906Val) c.4760A>T (p.Glu1587Val) c.4751A>T (p.Glu1584Val) | |
5 | g.37045477G>A | CA443906705 | NIPBL | c.6378G>A (p.Glu2126=) c.1-19101G>A (n.1-19101G>A) c.5634G>A (p.Glu1878=) c.6180G>A (p.Glu2060=) c.5997G>A (p.Glu1999=) c.5718G>A (p.Glu1906=) c.4761G>A (p.Glu1587=) c.4752G>A (p.Glu1584=) | dbSNP gnomAD v4 |
5 | g.37045477G>C | CA359504172 | NIPBL | c.6378G>C (p.Glu2126Asp) c.1-19101G>C (n.1-19101G>C) c.5634G>C (p.Glu1878Asp) c.6180G>C (p.Glu2060Asp) c.5997G>C (p.Glu1999Asp) c.5718G>C (p.Glu1906Asp) c.4761G>C (p.Glu1587Asp) c.4752G>C (p.Glu1584Asp) | |
5 | g.37045477G= | CA1539618483 | NIPBL | c.6378G= (p.Glu2126=) c.1-19101G= (n.1-19101G=) c.5634G= (p.Glu1878=) c.6180G= (p.Glu2060=) c.5997G= (p.Glu1999=) c.5718G= (p.Glu1906=) c.4761G= (p.Glu1587=) c.4752G= (p.Glu1584=) | |
5 | g.37045477G>T | CA359504175 | NIPBL | c.6378G>T (p.Glu2126Asp) c.1-19101G>T (n.1-19101G>T) c.5634G>T (p.Glu1878Asp) c.6180G>T (p.Glu2060Asp) c.5997G>T (p.Glu1999Asp) c.5718G>T (p.Glu1906Asp) c.4761G>T (p.Glu1587Asp) c.4752G>T (p.Glu1584Asp) | |
5 | g.37045478G>A | CA359504177 | NIPBL | c.6379G>A (p.Asp2127Asn) c.1-19100G>A (n.1-19100G>A) c.5635G>A (p.Asp1879Asn) c.6181G>A (p.Asp2061Asn) c.5998G>A (p.Asp2000Asn) c.5719G>A (p.Asp1907Asn) c.4762G>A (p.Asp1588Asn) c.4753G>A (p.Asp1585Asn) | |
5 | g.37045478G>C | CA359504180 | NIPBL | c.6379G>C (p.Asp2127His) c.1-19100G>C (n.1-19100G>C) c.5635G>C (p.Asp1879His) c.6181G>C (p.Asp2061His) c.5998G>C (p.Asp2000His) c.5719G>C (p.Asp1907His) c.4762G>C (p.Asp1588His) c.4753G>C (p.Asp1585His) | |
5 | g.37045478G>T | CA359504182 | NIPBL | c.6379G>T (p.Asp2127Tyr) c.1-19100G>T (n.1-19100G>T) c.5635G>T (p.Asp1879Tyr) c.6181G>T (p.Asp2061Tyr) c.5998G>T (p.Asp2000Tyr) c.5719G>T (p.Asp1907Tyr) c.4762G>T (p.Asp1588Tyr) c.4753G>T (p.Asp1585Tyr) | |
5 | g.37045479A>C | CA359504190 | NIPBL | c.6380A>C (p.Asp2127Ala) c.1-19099A>C (n.1-19099A>C) c.5636A>C (p.Asp1879Ala) c.6182A>C (p.Asp2061Ala) c.5999A>C (p.Asp2000Ala) c.5720A>C (p.Asp1907Ala) c.4763A>C (p.Asp1588Ala) c.4754A>C (p.Asp1585Ala) | |
5 | g.37045479A>G | CA359504184 | NIPBL | c.6380A>G (p.Asp2127Gly) c.1-19099A>G (n.1-19099A>G) c.5636A>G (p.Asp1879Gly) c.6182A>G (p.Asp2061Gly) c.5999A>G (p.Asp2000Gly) c.5720A>G (p.Asp1907Gly) c.4763A>G (p.Asp1588Gly) c.4754A>G (p.Asp1585Gly) | |
5 | g.37045479A>T | CA359504188 | NIPBL | c.6380A>T (p.Asp2127Val) c.1-19099A>T (n.1-19099A>T) c.5636A>T (p.Asp1879Val) c.6182A>T (p.Asp2061Val) c.5999A>T (p.Asp2000Val) c.5720A>T (p.Asp1907Val) c.4763A>T (p.Asp1588Val) c.4754A>T (p.Asp1585Val) | |
5 | g.37045480C>A | CA359504193 | NIPBL | c.6381C>A (p.Asp2127Glu) c.1-19098C>A (n.1-19098C>A) c.5637C>A (p.Asp1879Glu) c.6183C>A (p.Asp2061Glu) c.6000C>A (p.Asp2000Glu) c.5721C>A (p.Asp1907Glu) c.4764C>A (p.Asp1588Glu) c.4755C>A (p.Asp1585Glu) | |
5 | g.37045480C>G | CA359504197 | NIPBL | c.6381C>G (p.Asp2127Glu) c.1-19098C>G (n.1-19098C>G) c.5637C>G (p.Asp1879Glu) c.6183C>G (p.Asp2061Glu) c.6000C>G (p.Asp2000Glu) c.5721C>G (p.Asp1907Glu) c.4764C>G (p.Asp1588Glu) c.4755C>G (p.Asp1585Glu) | |
5 | g.37045480C>T | CA443906721 | NIPBL | c.6381C>T (p.Asp2127=) c.1-19098C>T (n.1-19098C>T) c.5637C>T (p.Asp1879=) c.6183C>T (p.Asp2061=) c.6000C>T (p.Asp2000=) c.5721C>T (p.Asp1907=) c.4764C>T (p.Asp1588=) c.4755C>T (p.Asp1585=) | |
5 | g.37045481C>A | CA359504200 | NIPBL | c.6382C>A (p.Pro2128Thr) c.1-19097C>A (n.1-19097C>A) c.5638C>A (p.Pro1880Thr) c.6184C>A (p.Pro2062Thr) c.6001C>A (p.Pro2001Thr) c.5722C>A (p.Pro1908Thr) c.4765C>A (p.Pro1589Thr) c.4756C>A (p.Pro1586Thr) | |
5 | g.37045481C>G | CA359504202 | NIPBL | c.6382C>G (p.Pro2128Ala) c.1-19097C>G (n.1-19097C>G) c.5638C>G (p.Pro1880Ala) c.6184C>G (p.Pro2062Ala) c.6001C>G (p.Pro2001Ala) c.5722C>G (p.Pro1908Ala) c.4765C>G (p.Pro1589Ala) c.4756C>G (p.Pro1586Ala) | |
5 | g.37045481C>T | CA359504203 | NIPBL | c.6382C>T (p.Pro2128Ser) c.1-19097C>T (n.1-19097C>T) c.5638C>T (p.Pro1880Ser) c.6184C>T (p.Pro2062Ser) c.6001C>T (p.Pro2001Ser) c.5722C>T (p.Pro1908Ser) c.4765C>T (p.Pro1589Ser) c.4756C>T (p.Pro1586Ser) | gnomAD v4 |
5 | g.37045482C>A | CA359504206 | NIPBL | c.6383C>A (p.Pro2128Gln) c.1-19096C>A (n.1-19096C>A) c.5639C>A (p.Pro1880Gln) c.6185C>A (p.Pro2062Gln) c.6002C>A (p.Pro2001Gln) c.5723C>A (p.Pro1908Gln) c.4766C>A (p.Pro1589Gln) c.4757C>A (p.Pro1586Gln) | |
5 | g.37045482C>G | CA359504209 | NIPBL | c.6383C>G (p.Pro2128Arg) c.1-19096C>G (n.1-19096C>G) c.5639C>G (p.Pro1880Arg) c.6185C>G (p.Pro2062Arg) c.6002C>G (p.Pro2001Arg) c.5723C>G (p.Pro1908Arg) c.4766C>G (p.Pro1589Arg) c.4757C>G (p.Pro1586Arg) | gnomAD v4 |
5 | g.37045482C>T | CA359504219 | NIPBL | c.6383C>T (p.Pro2128Leu) c.1-19096C>T (n.1-19096C>T) c.5639C>T (p.Pro1880Leu) c.6185C>T (p.Pro2062Leu) c.6002C>T (p.Pro2001Leu) c.5723C>T (p.Pro1908Leu) c.4766C>T (p.Pro1589Leu) c.4757C>T (p.Pro1586Leu) | |
5 | g.37045483A= | CA1539618486 | NIPBL | c.6384A= (p.Pro2128=) c.1-19095A= (n.1-19095A=) c.5640A= (p.Pro1880=) c.6186A= (p.Pro2062=) c.6003A= (p.Pro2001=) c.5724A= (p.Pro1908=) c.4767A= (p.Pro1589=) c.4758A= (p.Pro1586=) | |
5 | g.37045483A>C | CA117046385 | NIPBL | c.6384A>C (p.Pro2128=) c.1-19095A>C (n.1-19095A>C) c.5640A>C (p.Pro1880=) c.6186A>C (p.Pro2062=) c.6003A>C (p.Pro2001=) c.5724A>C (p.Pro1908=) c.4767A>C (p.Pro1589=) c.4758A>C (p.Pro1586=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.37045483A>G | CA443906731 | NIPBL | c.6384A>G (p.Pro2128=) c.1-19095A>G (n.1-19095A>G) c.5640A>G (p.Pro1880=) c.6186A>G (p.Pro2062=) c.6003A>G (p.Pro2001=) c.5724A>G (p.Pro1908=) c.4767A>G (p.Pro1589=) c.4758A>G (p.Pro1586=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.37045483A>T | CA443906734 | NIPBL | c.6384A>T (p.Pro2128=) c.1-19095A>T (n.1-19095A>T) c.5640A>T (p.Pro1880=) c.6186A>T (p.Pro2062=) c.6003A>T (p.Pro2001=) c.5724A>T (p.Pro1908=) c.4767A>T (p.Pro1589=) c.4758A>T (p.Pro1586=) | |
5 | g.37045484A>C | CA359504223 | NIPBL | c.6385A>C (p.Asn2129His) c.1-19094A>C (n.1-19094A>C) c.5641A>C (p.Asn1881His) c.6187A>C (p.Asn2063His) c.6004A>C (p.Asn2002His) c.5725A>C (p.Asn1909His) c.4768A>C (p.Asn1590His) c.4759A>C (p.Asn1587His) | |
5 | g.37045484A>G | CA359504224 | NIPBL | c.6385A>G (p.Asn2129Asp) c.1-19094A>G (n.1-19094A>G) c.5641A>G (p.Asn1881Asp) c.6187A>G (p.Asn2063Asp) c.6004A>G (p.Asn2002Asp) c.5725A>G (p.Asn1909Asp) c.4768A>G (p.Asn1590Asp) c.4759A>G (p.Asn1587Asp) | |
5 | g.37045484A>T | CA359504227 | NIPBL | c.6385A>T (p.Asn2129Tyr) c.1-19094A>T (n.1-19094A>T) c.5641A>T (p.Asn1881Tyr) c.6187A>T (p.Asn2063Tyr) c.6004A>T (p.Asn2002Tyr) c.5725A>T (p.Asn1909Tyr) c.4768A>T (p.Asn1590Tyr) c.4759A>T (p.Asn1587Tyr) | |
5 | g.37045485A= | CA1539618489 | NIPBL | c.6386A= (p.Asn2129=) c.1-19093A= (n.1-19093A=) c.5642A= (p.Asn1881=) c.6188A= (p.Asn2063=) c.6005A= (p.Asn2002=) c.5726A= (p.Asn1909=) c.4769A= (p.Asn1590=) c.4760A= (p.Asn1587=) | |
5 | g.37045485A>C | CA359504235 | NIPBL | c.6386A>C (p.Asn2129Thr) c.1-19093A>C (n.1-19093A>C) c.5642A>C (p.Asn1881Thr) c.6188A>C (p.Asn2063Thr) c.6005A>C (p.Asn2002Thr) c.5726A>C (p.Asn1909Thr) c.4769A>C (p.Asn1590Thr) c.4760A>C (p.Asn1587Thr) | |
5 | g.37045485A>G | CA359504236 | NIPBL | c.6386A>G (p.Asn2129Ser) c.1-19093A>G (n.1-19093A>G) c.5642A>G (p.Asn1881Ser) c.6188A>G (p.Asn2063Ser) c.6005A>G (p.Asn2002Ser) c.5726A>G (p.Asn1909Ser) c.4769A>G (p.Asn1590Ser) c.4760A>G (p.Asn1587Ser) | dbSNP COSMIC COSMIC |
5 | g.37045485A>T | CA359504232 | NIPBL | c.6386A>T (p.Asn2129Ile) c.1-19093A>T (n.1-19093A>T) c.5642A>T (p.Asn1881Ile) c.6188A>T (p.Asn2063Ile) c.6005A>T (p.Asn2002Ile) c.5726A>T (p.Asn1909Ile) c.4769A>T (p.Asn1590Ile) c.4760A>T (p.Asn1587Ile) | |
5 | g.37045486T>A | CA359504238 | NIPBL | c.6387T>A (p.Asn2129Lys) c.1-19092T>A (n.1-19092T>A) c.5643T>A (p.Asn1881Lys) c.6189T>A (p.Asn2063Lys) c.6006T>A (p.Asn2002Lys) c.5727T>A (p.Asn1909Lys) c.4770T>A (p.Asn1590Lys) c.4761T>A (p.Asn1587Lys) | |
5 | g.37045486T>C | CA443906748 | NIPBL | c.6387T>C (p.Asn2129=) c.1-19092T>C (n.1-19092T>C) c.5643T>C (p.Asn1881=) c.6189T>C (p.Asn2063=) c.6006T>C (p.Asn2002=) c.5727T>C (p.Asn1909=) c.4770T>C (p.Asn1590=) c.4761T>C (p.Asn1587=) | |
5 | g.37045486T>G | CA359504240 | NIPBL | c.6387T>G (p.Asn2129Lys) c.1-19092T>G (n.1-19092T>G) c.5643T>G (p.Asn1881Lys) c.6189T>G (p.Asn2063Lys) c.6006T>G (p.Asn2002Lys) c.5727T>G (p.Asn1909Lys) c.4770T>G (p.Asn1590Lys) c.4761T>G (p.Asn1587Lys) | |
5 | g.37045487A>C | CA359504243 | NIPBL | c.6388A>C (p.Asn2130His) c.1-19091A>C (n.1-19091A>C) c.5644A>C (p.Asn1882His) c.6190A>C (p.Asn2064His) c.6007A>C (p.Asn2003His) c.5728A>C (p.Asn1910His) c.4771A>C (p.Asn1591His) c.4762A>C (p.Asn1588His) | |
5 | g.37045487A>G | CA359504246 | NIPBL | c.6388A>G (p.Asn2130Asp) c.1-19091A>G (n.1-19091A>G) c.5644A>G (p.Asn1882Asp) c.6190A>G (p.Asn2064Asp) c.6007A>G (p.Asn2003Asp) c.5728A>G (p.Asn1910Asp) c.4771A>G (p.Asn1591Asp) c.4762A>G (p.Asn1588Asp) | |
5 | g.37045487A>T | CA359504249 | NIPBL | c.6388A>T (p.Asn2130Tyr) c.1-19091A>T (n.1-19091A>T) c.5644A>T (p.Asn1882Tyr) c.6190A>T (p.Asn2064Tyr) c.6007A>T (p.Asn2003Tyr) c.5728A>T (p.Asn1910Tyr) c.4771A>T (p.Asn1591Tyr) c.4762A>T (p.Asn1588Tyr) | |
5 | g.37045487_37045488insCACCCAAC | CA2765910819 | NIPBL | c.6388_6389insCACCCAAC (p.Asn2130ThrfsTer8) c.1-19091_1-19090insCACCCAAC (n.1-19091_1-19090insCACCCAAC) c.5644_5645insCACCCAAC (p.Asn1882ThrfsTer8) c.6190_6191insCACCCAAC (p.Asn2064ThrfsTer8) c.6007_6008insCACCCAAC (p.Asn2003ThrfsTer8) c.5728_5729insCACCCAAC (p.Asn1910ThrfsTer8) c.4771_4772insCACCCAAC (p.Asn1591ThrfsTer8) c.4762_4763insCACCCAAC (p.Asn1588ThrfsTer8) | |
5 | g.37045488A= | CA1539618494 | NIPBL | c.6389A= (p.Asn2130=) c.1-19090A= (n.1-19090A=) c.5645A= (p.Asn1882=) c.6191A= (p.Asn2064=) c.6008A= (p.Asn2003=) c.5729A= (p.Asn1910=) c.4772A= (p.Asn1591=) c.4763A= (p.Asn1588=) | |
5 | g.37045488A>C | CA359504257 | NIPBL | c.6389A>C (p.Asn2130Thr) c.1-19090A>C (n.1-19090A>C) c.5645A>C (p.Asn1882Thr) c.6191A>C (p.Asn2064Thr) c.6008A>C (p.Asn2003Thr) c.5729A>C (p.Asn1910Thr) c.4772A>C (p.Asn1591Thr) c.4763A>C (p.Asn1588Thr) | |
5 | g.37045488A>G | CA3236996 | NIPBL | c.6389A>G (p.Asn2130Ser) c.1-19090A>G (n.1-19090A>G) c.5645A>G (p.Asn1882Ser) c.6191A>G (p.Asn2064Ser) c.6008A>G (p.Asn2003Ser) c.5729A>G (p.Asn1910Ser) c.4772A>G (p.Asn1591Ser) c.4763A>G (p.Asn1588Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37045488A>T | CA359504253 | NIPBL | c.6389A>T (p.Asn2130Ile) c.1-19090A>T (n.1-19090A>T) c.5645A>T (p.Asn1882Ile) c.6191A>T (p.Asn2064Ile) c.6008A>T (p.Asn2003Ile) c.5729A>T (p.Asn1910Ile) c.4772A>T (p.Asn1591Ile) c.4763A>T (p.Asn1588Ile) | |
5 | g.37045489C>A | CA359504260 | NIPBL | c.6390C>A (p.Asn2130Lys) c.1-19089C>A (n.1-19089C>A) c.5646C>A (p.Asn1882Lys) c.6192C>A (p.Asn2064Lys) c.6009C>A (p.Asn2003Lys) c.5730C>A (p.Asn1910Lys) c.4773C>A (p.Asn1591Lys) c.4764C>A (p.Asn1588Lys) | |
5 | g.37045489C= | CA1539618498 | NIPBL | c.6390C= (p.Asn2130=) c.1-19089C= (n.1-19089C=) c.5646C= (p.Asn1882=) c.6192C= (p.Asn2064=) c.6009C= (p.Asn2003=) c.5730C= (p.Asn1910=) c.4773C= (p.Asn1591=) c.4764C= (p.Asn1588=) | |
5 | g.37045489C>G | CA359504262 | NIPBL | c.6390C>G (p.Asn2130Lys) c.1-19089C>G (n.1-19089C>G) c.5646C>G (p.Asn1882Lys) c.6192C>G (p.Asn2064Lys) c.6009C>G (p.Asn2003Lys) c.5730C>G (p.Asn1910Lys) c.4773C>G (p.Asn1591Lys) c.4764C>G (p.Asn1588Lys) | |
5 | g.37045489C>T | CA3236997 | NIPBL | c.6390C>T (p.Asn2130=) c.1-19089C>T (n.1-19089C>T) c.5646C>T (p.Asn1882=) c.6192C>T (p.Asn2064=) c.6009C>T (p.Asn2003=) c.5730C>T (p.Asn1910=) c.4773C>T (p.Asn1591=) c.4764C>T (p.Asn1588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37045490A>C | CA359504266 | NIPBL | c.6391A>C (p.Thr2131Pro) c.1-19088A>C (n.1-19088A>C) c.5647A>C (p.Thr1883Pro) c.6193A>C (p.Thr2065Pro) c.6010A>C (p.Thr2004Pro) c.5731A>C (p.Thr1911Pro) c.4774A>C (p.Thr1592Pro) c.4765A>C (p.Thr1589Pro) | gnomAD v4 |
5 | g.37045490A>G | CA359504270 | NIPBL | c.6391A>G (p.Thr2131Ala) c.1-19088A>G (n.1-19088A>G) c.5647A>G (p.Thr1883Ala) c.6193A>G (p.Thr2065Ala) c.6010A>G (p.Thr2004Ala) c.5731A>G (p.Thr1911Ala) c.4774A>G (p.Thr1592Ala) c.4765A>G (p.Thr1589Ala) | gnomAD v4 |
5 | g.37045490A>T | CA359504271 | NIPBL | c.6391A>T (p.Thr2131Ser) c.1-19088A>T (n.1-19088A>T) c.5647A>T (p.Thr1883Ser) c.6193A>T (p.Thr2065Ser) c.6010A>T (p.Thr2004Ser) c.5731A>T (p.Thr1911Ser) c.4774A>T (p.Thr1592Ser) c.4765A>T (p.Thr1589Ser) |