UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37026180T>C | CA1075108128 | NIPBL | c.5710-49T>C (n.5710-49T>C) c.1-38398T>C (n.1-38398T>C) c.4966-49T>C (n.4966-49T>C) c.5512-49T>C (n.5512-49T>C) c.5329-49T>C (n.5329-49T>C) c.5050-49T>C (n.5050-49T>C) c.4093-49T>C (n.4093-49T>C) c.4084-49T>C (n.4084-49T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37026180T= | CA1539596024 | NIPBL | c.5710-49T= (n.5710-49T=) c.1-38398T= (n.1-38398T=) c.4966-49T= (n.4966-49T=) c.5512-49T= (n.5512-49T=) c.5329-49T= (n.5329-49T=) c.5050-49T= (n.5050-49T=) c.4093-49T= (n.4093-49T=) c.4084-49T= (n.4084-49T=) | |
| 5 | g.37026182G= | CA1539596028 | NIPBL | c.5710-47G= (n.5710-47G=) c.1-38396G= (n.1-38396G=) c.4966-47G= (n.4966-47G=) c.5512-47G= (n.5512-47G=) c.5329-47G= (n.5329-47G=) c.5050-47G= (n.5050-47G=) c.4093-47G= (n.4093-47G=) c.4084-47G= (n.4084-47G=) | |
| 5 | g.37026182G>T | CA3236826 | NIPBL | c.5710-47G>T (n.5710-47G>T) c.1-38396G>T (n.1-38396G>T) c.4966-47G>T (n.4966-47G>T) c.5512-47G>T (n.5512-47G>T) c.5329-47G>T (n.5329-47G>T) c.5050-47G>T (n.5050-47G>T) c.4093-47G>T (n.4093-47G>T) c.4084-47G>T (n.4084-47G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026183C>A | CA2673554982 | NIPBL | c.5710-46C>A (n.5710-46C>A) c.1-38395C>A (n.1-38395C>A) c.4966-46C>A (n.4966-46C>A) c.5512-46C>A (n.5512-46C>A) c.5329-46C>A (n.5329-46C>A) c.5050-46C>A (n.5050-46C>A) c.4093-46C>A (n.4093-46C>A) c.4084-46C>A (n.4084-46C>A) | gnomAD v4 |
| 5 | g.37026183C>T | CA2673554983 | NIPBL | c.5710-46C>T (n.5710-46C>T) c.1-38395C>T (n.1-38395C>T) c.4966-46C>T (n.4966-46C>T) c.5512-46C>T (n.5512-46C>T) c.5329-46C>T (n.5329-46C>T) c.5050-46C>T (n.5050-46C>T) c.4093-46C>T (n.4093-46C>T) c.4084-46C>T (n.4084-46C>T) | gnomAD v4 |
| 5 | g.37026184C>A | CA2673554984 | NIPBL | c.5710-45C>A (n.5710-45C>A) c.1-38394C>A (n.1-38394C>A) c.4966-45C>A (n.4966-45C>A) c.5512-45C>A (n.5512-45C>A) c.5329-45C>A (n.5329-45C>A) c.5050-45C>A (n.5050-45C>A) c.4093-45C>A (n.4093-45C>A) c.4084-45C>A (n.4084-45C>A) | gnomAD v4 |
| 5 | g.37026184C= | CA1539596032 | NIPBL | c.5710-45C= (n.5710-45C=) c.1-38394C= (n.1-38394C=) c.4966-45C= (n.4966-45C=) c.5512-45C= (n.5512-45C=) c.5329-45C= (n.5329-45C=) c.5050-45C= (n.5050-45C=) c.4093-45C= (n.4093-45C=) c.4084-45C= (n.4084-45C=) | |
| 5 | g.37026184C>G | CA915116601 | NIPBL | c.5710-45C>G (n.5710-45C>G) c.1-38394C>G (n.1-38394C>G) c.4966-45C>G (n.4966-45C>G) c.5512-45C>G (n.5512-45C>G) c.5329-45C>G (n.5329-45C>G) c.5050-45C>G (n.5050-45C>G) c.4093-45C>G (n.4093-45C>G) c.4084-45C>G (n.4084-45C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026184C>T | CA117030787 | NIPBL | c.5710-45C>T (n.5710-45C>T) c.1-38394C>T (n.1-38394C>T) c.4966-45C>T (n.4966-45C>T) c.5512-45C>T (n.5512-45C>T) c.5329-45C>T (n.5329-45C>T) c.5050-45C>T (n.5050-45C>T) c.4093-45C>T (n.4093-45C>T) c.4084-45C>T (n.4084-45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026185G>A | CA3236827 | NIPBL | c.5710-44G>A (n.5710-44G>A) c.1-38393G>A (n.1-38393G>A) c.4966-44G>A (n.4966-44G>A) c.5512-44G>A (n.5512-44G>A) c.5329-44G>A (n.5329-44G>A) c.5050-44G>A (n.5050-44G>A) c.4093-44G>A (n.4093-44G>A) c.4084-44G>A (n.4084-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026185G>C | CA2673554985 | NIPBL | c.5710-44G>C (n.5710-44G>C) c.1-38393G>C (n.1-38393G>C) c.4966-44G>C (n.4966-44G>C) c.5512-44G>C (n.5512-44G>C) c.5329-44G>C (n.5329-44G>C) c.5050-44G>C (n.5050-44G>C) c.4093-44G>C (n.4093-44G>C) c.4084-44G>C (n.4084-44G>C) | gnomAD v4 |
| 5 | g.37026185G= | CA1539596039 | NIPBL | c.5710-44G= (n.5710-44G=) c.1-38393G= (n.1-38393G=) c.4966-44G= (n.4966-44G=) c.5512-44G= (n.5512-44G=) c.5329-44G= (n.5329-44G=) c.5050-44G= (n.5050-44G=) c.4093-44G= (n.4093-44G=) c.4084-44G= (n.4084-44G=) | |
| 5 | g.37026185G>T | CA1075108136 | NIPBL | c.5710-44G>T (n.5710-44G>T) c.1-38393G>T (n.1-38393G>T) c.4966-44G>T (n.4966-44G>T) c.5512-44G>T (n.5512-44G>T) c.5329-44G>T (n.5329-44G>T) c.5050-44G>T (n.5050-44G>T) c.4093-44G>T (n.4093-44G>T) c.4084-44G>T (n.4084-44G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37026186T>C | CA2578289725 | NIPBL | c.5710-43T>C (n.5710-43T>C) c.1-38392T>C (n.1-38392T>C) c.4966-43T>C (n.4966-43T>C) c.5512-43T>C (n.5512-43T>C) c.5329-43T>C (n.5329-43T>C) c.5050-43T>C (n.5050-43T>C) c.4093-43T>C (n.4093-43T>C) c.4084-43T>C (n.4084-43T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37026187A= | CA1539596042 | NIPBL | c.5710-42A= (n.5710-42A=) c.1-38391A= (n.1-38391A=) c.4966-42A= (n.4966-42A=) c.5512-42A= (n.5512-42A=) c.5329-42A= (n.5329-42A=) c.5050-42A= (n.5050-42A=) c.4093-42A= (n.4093-42A=) c.4084-42A= (n.4084-42A=) | |
| 5 | g.37026187A>G | CA3236828 | NIPBL | c.5710-42A>G (n.5710-42A>G) c.1-38391A>G (n.1-38391A>G) c.4966-42A>G (n.4966-42A>G) c.5512-42A>G (n.5512-42A>G) c.5329-42A>G (n.5329-42A>G) c.5050-42A>G (n.5050-42A>G) c.4093-42A>G (n.4093-42A>G) c.4084-42A>G (n.4084-42A>G) | dbSNP ExAC gnomAD v4 |
| 5 | g.37026188T>C | CA1075108138 | NIPBL | c.5710-41T>C (n.5710-41T>C) c.1-38390T>C (n.1-38390T>C) c.4966-41T>C (n.4966-41T>C) c.5512-41T>C (n.5512-41T>C) c.5329-41T>C (n.5329-41T>C) c.5050-41T>C (n.5050-41T>C) c.4093-41T>C (n.4093-41T>C) c.4084-41T>C (n.4084-41T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37026188T= | CA1539596045 | NIPBL | c.5710-41T= (n.5710-41T=) c.1-38390T= (n.1-38390T=) c.4966-41T= (n.4966-41T=) c.5512-41T= (n.5512-41T=) c.5329-41T= (n.5329-41T=) c.5050-41T= (n.5050-41T=) c.4093-41T= (n.4093-41T=) c.4084-41T= (n.4084-41T=) | |
| 5 | g.37026190T>G | CA2673554986 | NIPBL | c.5710-39T>G (n.5710-39T>G) c.1-38388T>G (n.1-38388T>G) c.4966-39T>G (n.4966-39T>G) c.5512-39T>G (n.5512-39T>G) c.5329-39T>G (n.5329-39T>G) c.5050-39T>G (n.5050-39T>G) c.4093-39T>G (n.4093-39T>G) c.4084-39T>G (n.4084-39T>G) | gnomAD v4 |
| 5 | g.37026192T>G | CA2673554987 | NIPBL | c.5710-37T>G (n.5710-37T>G) c.1-38386T>G (n.1-38386T>G) c.4966-37T>G (n.4966-37T>G) c.5512-37T>G (n.5512-37T>G) c.5329-37T>G (n.5329-37T>G) c.5050-37T>G (n.5050-37T>G) c.4093-37T>G (n.4093-37T>G) c.4084-37T>G (n.4084-37T>G) | gnomAD v4 |
| 5 | g.37026194A= | CA1539596051 | NIPBL | c.5710-35A= (n.5710-35A=) c.1-38384A= (n.1-38384A=) c.4966-35A= (n.4966-35A=) c.5512-35A= (n.5512-35A=) c.5329-35A= (n.5329-35A=) c.5050-35A= (n.5050-35A=) c.4093-35A= (n.4093-35A=) c.4084-35A= (n.4084-35A=) | |
| 5 | g.37026194A>G | CA559017191 | NIPBL | c.5710-35A>G (n.5710-35A>G) c.1-38384A>G (n.1-38384A>G) c.4966-35A>G (n.4966-35A>G) c.5512-35A>G (n.5512-35A>G) c.5329-35A>G (n.5329-35A>G) c.5050-35A>G (n.5050-35A>G) c.4093-35A>G (n.4093-35A>G) c.4084-35A>G (n.4084-35A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026194A>T | CA2673554988 | NIPBL | c.5710-35A>T (n.5710-35A>T) c.1-38384A>T (n.1-38384A>T) c.4966-35A>T (n.4966-35A>T) c.5512-35A>T (n.5512-35A>T) c.5329-35A>T (n.5329-35A>T) c.5050-35A>T (n.5050-35A>T) c.4093-35A>T (n.4093-35A>T) c.4084-35A>T (n.4084-35A>T) | gnomAD v4 |
| 5 | g.37026195T>C | CA3236829 | NIPBL | c.5710-34T>C (n.5710-34T>C) c.1-38383T>C (n.1-38383T>C) c.4966-34T>C (n.4966-34T>C) c.5512-34T>C (n.5512-34T>C) c.5329-34T>C (n.5329-34T>C) c.5050-34T>C (n.5050-34T>C) c.4093-34T>C (n.4093-34T>C) c.4084-34T>C (n.4084-34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37026195T= | CA1539596061 | NIPBL | c.5710-34T= (n.5710-34T=) c.1-38383T= (n.1-38383T=) c.4966-34T= (n.4966-34T=) c.5512-34T= (n.5512-34T=) c.5329-34T= (n.5329-34T=) c.5050-34T= (n.5050-34T=) c.4093-34T= (n.4093-34T=) c.4084-34T= (n.4084-34T=) | |
| 5 | g.37026197_37026200del | CA2673554989 | NIPBL | c.5710-32_5710-29del (n.5710-32_5710-29del) c.1-38381_1-38378del (n.1-38381_1-38378del) c.4966-32_4966-29del (n.4966-32_4966-29del) c.5512-32_5512-29del (n.5512-32_5512-29del) c.5329-32_5329-29del (n.5329-32_5329-29del) c.5050-32_5050-29del (n.5050-32_5050-29del) c.4093-32_4093-29del (n.4093-32_4093-29del) c.4084-32_4084-29del (n.4084-32_4084-29del) | gnomAD v4 |
| 5 | g.37026196A= | CA1539596065 | NIPBL | c.5710-33A= (n.5710-33A=) c.1-38382A= (n.1-38382A=) c.4966-33A= (n.4966-33A=) c.5512-33A= (n.5512-33A=) c.5329-33A= (n.5329-33A=) c.5050-33A= (n.5050-33A=) c.4093-33A= (n.4093-33A=) c.4084-33A= (n.4084-33A=) | |
| 5 | g.37026196A>G | CA559017192 | NIPBL | c.5710-33A>G (n.5710-33A>G) c.1-38382A>G (n.1-38382A>G) c.4966-33A>G (n.4966-33A>G) c.5512-33A>G (n.5512-33A>G) c.5329-33A>G (n.5329-33A>G) c.5050-33A>G (n.5050-33A>G) c.4093-33A>G (n.4093-33A>G) c.4084-33A>G (n.4084-33A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026197A= | CA1539596083 | NIPBL | c.5710-32A= (n.5710-32A=) c.1-38381A= (n.1-38381A=) c.4966-32A= (n.4966-32A=) c.5512-32A= (n.5512-32A=) c.5329-32A= (n.5329-32A=) c.5050-32A= (n.5050-32A=) c.4093-32A= (n.4093-32A=) c.4084-32A= (n.4084-32A=) | |
| 5 | g.37026197A>G | CA1539596076 | NIPBL | c.5710-32A>G (n.5710-32A>G) c.1-38381A>G (n.1-38381A>G) c.4966-32A>G (n.4966-32A>G) c.5512-32A>G (n.5512-32A>G) c.5329-32A>G (n.5329-32A>G) c.5050-32A>G (n.5050-32A>G) c.4093-32A>G (n.4093-32A>G) c.4084-32A>G (n.4084-32A>G) | dbSNP gnomAD v4 |
| 5 | g.37026197_37026198delinsAT | CA1539596079 | NIPBL | c.5710-32_5710-31delinsAT (n.5710-32_5710-31delinsAT) c.1-38381_1-38380delinsAT (n.1-38381_1-38380delinsAT) c.4966-32_4966-31delinsAT (n.4966-32_4966-31delinsAT) c.5512-32_5512-31delinsAT (n.5512-32_5512-31delinsAT) c.5329-32_5329-31delinsAT (n.5329-32_5329-31delinsAT) c.5050-32_5050-31delinsAT (n.5050-32_5050-31delinsAT) c.4093-32_4093-31delinsAT (n.4093-32_4093-31delinsAT) c.4084-32_4084-31delinsAT (n.4084-32_4084-31delinsAT) | |
| 5 | g.37026197_37026201delinsATTAG | CA1539596071 | NIPBL | c.5710-32_5710-28delinsATTAG (n.5710-32_5710-28delinsATTAG) c.1-38381_1-38377delinsATTAG (n.1-38381_1-38377delinsATTAG) c.4966-32_4966-28delinsATTAG (n.4966-32_4966-28delinsATTAG) c.5512-32_5512-28delinsATTAG (n.5512-32_5512-28delinsATTAG) c.5329-32_5329-28delinsATTAG (n.5329-32_5329-28delinsATTAG) c.5050-32_5050-28delinsATTAG (n.5050-32_5050-28delinsATTAG) c.4093-32_4093-28delinsATTAG (n.4093-32_4093-28delinsATTAG) c.4084-32_4084-28delinsATTAG (n.4084-32_4084-28delinsATTAG) | |
| 5 | g.37026198T>G | CA2673554990 | NIPBL | c.5710-31T>G (n.5710-31T>G) c.1-38380T>G (n.1-38380T>G) c.4966-31T>G (n.4966-31T>G) c.5512-31T>G (n.5512-31T>G) c.5329-31T>G (n.5329-31T>G) c.5050-31T>G (n.5050-31T>G) c.4093-31T>G (n.4093-31T>G) c.4084-31T>G (n.4084-31T>G) | gnomAD v4 |
| 5 | g.37026199del | CA117030790 | NIPBL | c.5710-30del (n.5710-30del) c.1-38379del (n.1-38379del) c.4966-30del (n.4966-30del) c.5512-30del (n.5512-30del) c.5329-30del (n.5329-30del) c.5050-30del (n.5050-30del) c.4093-30del (n.4093-30del) c.4084-30del (n.4084-30del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37026201_37026204del | CA3236830 | NIPBL | c.5710-28_5710-25del (n.5710-28_5710-25del) c.1-38377_1-38374del (n.1-38377_1-38374del) c.4966-28_4966-25del (n.4966-28_4966-25del) c.5512-28_5512-25del (n.5512-28_5512-25del) c.5329-28_5329-25del (n.5329-28_5329-25del) c.5050-28_5050-25del (n.5050-28_5050-25del) c.4093-28_4093-25del (n.4093-28_4093-25del) c.4084-28_4084-25del (n.4084-28_4084-25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026199T= | CA1539596093 | NIPBL | c.5710-30T= (n.5710-30T=) c.1-38379T= (n.1-38379T=) c.4966-30T= (n.4966-30T=) c.5512-30T= (n.5512-30T=) c.5329-30T= (n.5329-30T=) c.5050-30T= (n.5050-30T=) c.4093-30T= (n.4093-30T=) c.4084-30T= (n.4084-30T=) | |
| 5 | g.37026200A>T | CA2578289727 | NIPBL | c.5710-29A>T (n.5710-29A>T) c.1-38378A>T (n.1-38378A>T) c.4966-29A>T (n.4966-29A>T) c.5512-29A>T (n.5512-29A>T) c.5329-29A>T (n.5329-29A>T) c.5050-29A>T (n.5050-29A>T) c.4093-29A>T (n.4093-29A>T) c.4084-29A>T (n.4084-29A>T) | gnomAD v4 |
| 5 | g.37026200dup | CA3236831 | NIPBL | c.5710-29dup (n.5710-29dup) c.1-38378dup (n.1-38378dup) c.4966-29dup (n.4966-29dup) c.5512-29dup (n.5512-29dup) c.5329-29dup (n.5329-29dup) c.5050-29dup (n.5050-29dup) c.4093-29dup (n.4093-29dup) c.4084-29dup (n.4084-29dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026201G>A | CA2673554991 | NIPBL | c.5710-28G>A (n.5710-28G>A) c.1-38377G>A (n.1-38377G>A) c.4966-28G>A (n.4966-28G>A) c.5512-28G>A (n.5512-28G>A) c.5329-28G>A (n.5329-28G>A) c.5050-28G>A (n.5050-28G>A) c.4093-28G>A (n.4093-28G>A) c.4084-28G>A (n.4084-28G>A) | gnomAD v4 |
| 5 | g.37026202T>G | CA1075108149 | NIPBL | c.5710-27T>G (n.5710-27T>G) c.1-38376T>G (n.1-38376T>G) c.4966-27T>G (n.4966-27T>G) c.5512-27T>G (n.5512-27T>G) c.5329-27T>G (n.5329-27T>G) c.5050-27T>G (n.5050-27T>G) c.4093-27T>G (n.4093-27T>G) c.4084-27T>G (n.4084-27T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37026202T= | CA1539596099 | NIPBL | c.5710-27T= (n.5710-27T=) c.1-38376T= (n.1-38376T=) c.4966-27T= (n.4966-27T=) c.5512-27T= (n.5512-27T=) c.5329-27T= (n.5329-27T=) c.5050-27T= (n.5050-27T=) c.4093-27T= (n.4093-27T=) c.4084-27T= (n.4084-27T=) | |
| 5 | g.37026204A= | CA1539596108 | NIPBL | c.5710-25A= (n.5710-25A=) c.1-38374A= (n.1-38374A=) c.4966-25A= (n.4966-25A=) c.5512-25A= (n.5512-25A=) c.5329-25A= (n.5329-25A=) c.5050-25A= (n.5050-25A=) c.4093-25A= (n.4093-25A=) c.4084-25A= (n.4084-25A=) | |
| 5 | g.37026204A>C | CA3236832 | NIPBL | c.5710-25A>C (n.5710-25A>C) c.1-38374A>C (n.1-38374A>C) c.4966-25A>C (n.4966-25A>C) c.5512-25A>C (n.5512-25A>C) c.5329-25A>C (n.5329-25A>C) c.5050-25A>C (n.5050-25A>C) c.4093-25A>C (n.4093-25A>C) c.4084-25A>C (n.4084-25A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026206T>C | CA3236833 | NIPBL | c.5710-23T>C (n.5710-23T>C) c.1-38372T>C (n.1-38372T>C) c.4966-23T>C (n.4966-23T>C) c.5512-23T>C (n.5512-23T>C) c.5329-23T>C (n.5329-23T>C) c.5050-23T>C (n.5050-23T>C) c.4093-23T>C (n.4093-23T>C) c.4084-23T>C (n.4084-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026206T= | CA1539596111 | NIPBL | c.5710-23T= (n.5710-23T=) c.1-38372T= (n.1-38372T=) c.4966-23T= (n.4966-23T=) c.5512-23T= (n.5512-23T=) c.5329-23T= (n.5329-23T=) c.5050-23T= (n.5050-23T=) c.4093-23T= (n.4093-23T=) c.4084-23T= (n.4084-23T=) | |
| 5 | g.37026207T>C | CA3236834 | NIPBL | c.5710-22T>C (n.5710-22T>C) c.1-38371T>C (n.1-38371T>C) c.4966-22T>C (n.4966-22T>C) c.5512-22T>C (n.5512-22T>C) c.5329-22T>C (n.5329-22T>C) c.5050-22T>C (n.5050-22T>C) c.4093-22T>C (n.4093-22T>C) c.4084-22T>C (n.4084-22T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026207T= | CA1539596117 | NIPBL | c.5710-22T= (n.5710-22T=) c.1-38371T= (n.1-38371T=) c.4966-22T= (n.4966-22T=) c.5512-22T= (n.5512-22T=) c.5329-22T= (n.5329-22T=) c.5050-22T= (n.5050-22T=) c.4093-22T= (n.4093-22T=) c.4084-22T= (n.4084-22T=) | |
| 5 | g.37026208T>G | CA810291862 | NIPBL | c.5710-21T>G (n.5710-21T>G) c.1-38370T>G (n.1-38370T>G) c.4966-21T>G (n.4966-21T>G) c.5512-21T>G (n.5512-21T>G) c.5329-21T>G (n.5329-21T>G) c.5050-21T>G (n.5050-21T>G) c.4093-21T>G (n.4093-21T>G) c.4084-21T>G (n.4084-21T>G) | dbSNP |
| 5 | g.37026208T= | CA1539596120 | NIPBL | c.5710-21T= (n.5710-21T=) c.1-38370T= (n.1-38370T=) c.4966-21T= (n.4966-21T=) c.5512-21T= (n.5512-21T=) c.5329-21T= (n.5329-21T=) c.5050-21T= (n.5050-21T=) c.4093-21T= (n.4093-21T=) c.4084-21T= (n.4084-21T=) | |
| 5 | g.37026209G>A | CA2673576523 | NIPBL | c.5710-20G>A (n.5710-20G>A) c.1-38369G>A (n.1-38369G>A) c.4966-20G>A (n.4966-20G>A) c.5512-20G>A (n.5512-20G>A) c.5329-20G>A (n.5329-20G>A) c.5050-20G>A (n.5050-20G>A) c.4093-20G>A (n.4093-20G>A) c.4084-20G>A (n.4084-20G>A) | gnomAD v4 |
| 5 | g.37026209G>T | CA2673576522 | NIPBL | c.5710-20G>T (n.5710-20G>T) c.1-38369G>T (n.1-38369G>T) c.4966-20G>T (n.4966-20G>T) c.5512-20G>T (n.5512-20G>T) c.5329-20G>T (n.5329-20G>T) c.5050-20G>T (n.5050-20G>T) c.4093-20G>T (n.4093-20G>T) c.4084-20G>T (n.4084-20G>T) | gnomAD v4 |
| 5 | g.37026215T>C | CA3236835 | NIPBL | c.5710-14T>C (n.5710-14T>C) c.1-38363T>C (n.1-38363T>C) c.4966-14T>C (n.4966-14T>C) c.5512-14T>C (n.5512-14T>C) c.5329-14T>C (n.5329-14T>C) c.5050-14T>C (n.5050-14T>C) c.4093-14T>C (n.4093-14T>C) c.4084-14T>C (n.4084-14T>C) | dbSNP ExAC |
| 5 | g.37026215T= | CA1539596128 | NIPBL | c.5710-14T= (n.5710-14T=) c.1-38363T= (n.1-38363T=) c.4966-14T= (n.4966-14T=) c.5512-14T= (n.5512-14T=) c.5329-14T= (n.5329-14T=) c.5050-14T= (n.5050-14T=) c.4093-14T= (n.4093-14T=) c.4084-14T= (n.4084-14T=) | |
| 5 | g.37026216C>A | CA559017193 | NIPBL | c.5710-13C>A (n.5710-13C>A) c.1-38362C>A (n.1-38362C>A) c.4966-13C>A (n.4966-13C>A) c.5512-13C>A (n.5512-13C>A) c.5329-13C>A (n.5329-13C>A) c.5050-13C>A (n.5050-13C>A) c.4093-13C>A (n.4093-13C>A) c.4084-13C>A (n.4084-13C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37026216C= | CA1539596150 | NIPBL | c.5710-13C= (n.5710-13C=) c.1-38362C= (n.1-38362C=) c.4966-13C= (n.4966-13C=) c.5512-13C= (n.5512-13C=) c.5329-13C= (n.5329-13C=) c.5050-13C= (n.5050-13C=) c.4093-13C= (n.4093-13C=) c.4084-13C= (n.4084-13C=) | |
| 5 | g.37026216C>G | CA559017194 | NIPBL | c.5710-13C>G (n.5710-13C>G) c.1-38362C>G (n.1-38362C>G) c.4966-13C>G (n.4966-13C>G) c.5512-13C>G (n.5512-13C>G) c.5329-13C>G (n.5329-13C>G) c.5050-13C>G (n.5050-13C>G) c.4093-13C>G (n.4093-13C>G) c.4084-13C>G (n.4084-13C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37026216C>T | CA3236836 | NIPBL | c.5710-13C>T (n.5710-13C>T) c.1-38362C>T (n.1-38362C>T) c.4966-13C>T (n.4966-13C>T) c.5512-13C>T (n.5512-13C>T) c.5329-13C>T (n.5329-13C>T) c.5050-13C>T (n.5050-13C>T) c.4093-13C>T (n.4093-13C>T) c.4084-13C>T (n.4084-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026216_37026217delinsAA | CA16618202 | NIPBL | c.5710-13_5710-12delinsAA (n.5710-13_5710-12delinsAA) c.1-38362_1-38361delinsAA (n.1-38362_1-38361delinsAA) c.4966-13_4966-12delinsAA (n.4966-13_4966-12delinsAA) c.5512-13_5512-12delinsAA (n.5512-13_5512-12delinsAA) c.5329-13_5329-12delinsAA (n.5329-13_5329-12delinsAA) c.5050-13_5050-12delinsAA (n.5050-13_5050-12delinsAA) c.4093-13_4093-12delinsAA (n.4093-13_4093-12delinsAA) c.4084-13_4084-12delinsAA (n.4084-13_4084-12delinsAA) | ClinVar dbSNP |
| 5 | g.37026216_37026217delinsCT | CA1539596139 | NIPBL | c.5710-13_5710-12delinsCT (n.5710-13_5710-12delinsCT) c.1-38362_1-38361delinsCT (n.1-38362_1-38361delinsCT) c.4966-13_4966-12delinsCT (n.4966-13_4966-12delinsCT) c.5512-13_5512-12delinsCT (n.5512-13_5512-12delinsCT) c.5329-13_5329-12delinsCT (n.5329-13_5329-12delinsCT) c.5050-13_5050-12delinsCT (n.5050-13_5050-12delinsCT) c.4093-13_4093-12delinsCT (n.4093-13_4093-12delinsCT) c.4084-13_4084-12delinsCT (n.4084-13_4084-12delinsCT) | |
| 5 | g.37026218C>A | CA2673576524 | NIPBL | c.5710-11C>A (n.5710-11C>A) c.1-38360C>A (n.1-38360C>A) c.4966-11C>A (n.4966-11C>A) c.5512-11C>A (n.5512-11C>A) c.5329-11C>A (n.5329-11C>A) c.5050-11C>A (n.5050-11C>A) c.4093-11C>A (n.4093-11C>A) c.4084-11C>A (n.4084-11C>A) | gnomAD v4 |
| 5 | g.37026218C>T | CA2673576525 | NIPBL | c.5710-11C>T (n.5710-11C>T) c.1-38360C>T (n.1-38360C>T) c.4966-11C>T (n.4966-11C>T) c.5512-11C>T (n.5512-11C>T) c.5329-11C>T (n.5329-11C>T) c.5050-11C>T (n.5050-11C>T) c.4093-11C>T (n.4093-11C>T) c.4084-11C>T (n.4084-11C>T) | gnomAD v4 |
| 5 | g.37026220del | CA2673576526 | NIPBL | c.5710-9del (n.5710-9del) c.1-38358del (n.1-38358del) c.4966-9del (n.4966-9del) c.5512-9del (n.5512-9del) c.5329-9del (n.5329-9del) c.5050-9del (n.5050-9del) c.4093-9del (n.4093-9del) c.4084-9del (n.4084-9del) | gnomAD v4 |
| 5 | g.37026221C>A | CA2578289734 | NIPBL | c.5710-8C>A (n.5710-8C>A) c.1-38357C>A (n.1-38357C>A) c.4966-8C>A (n.4966-8C>A) c.5512-8C>A (n.5512-8C>A) c.5329-8C>A (n.5329-8C>A) c.5050-8C>A (n.5050-8C>A) c.4093-8C>A (n.4093-8C>A) c.4084-8C>A (n.4084-8C>A) | gnomAD v4 |
| 5 | g.37026222C>A | CA2673576527 | NIPBL | c.5710-7C>A (n.5710-7C>A) c.1-38356C>A (n.1-38356C>A) c.4966-7C>A (n.4966-7C>A) c.5512-7C>A (n.5512-7C>A) c.5329-7C>A (n.5329-7C>A) c.5050-7C>A (n.5050-7C>A) c.4093-7C>A (n.4093-7C>A) c.4084-7C>A (n.4084-7C>A) | gnomAD v4 |
| 5 | g.37026222C>T | CA2673576528 | NIPBL | c.5710-7C>T (n.5710-7C>T) c.1-38356C>T (n.1-38356C>T) c.4966-7C>T (n.4966-7C>T) c.5512-7C>T (n.5512-7C>T) c.5329-7C>T (n.5329-7C>T) c.5050-7C>T (n.5050-7C>T) c.4093-7C>T (n.4093-7C>T) c.4084-7C>T (n.4084-7C>T) | gnomAD v4 |
| 5 | g.37026223T>G | CA2673576529 | NIPBL | c.5710-6T>G (n.5710-6T>G) c.1-38355T>G (n.1-38355T>G) c.4966-6T>G (n.4966-6T>G) c.5512-6T>G (n.5512-6T>G) c.5329-6T>G (n.5329-6T>G) c.5050-6T>G (n.5050-6T>G) c.4093-6T>G (n.4093-6T>G) c.4084-6T>G (n.4084-6T>G) | gnomAD v4 |
| 5 | g.37026224T>G | CA2578289735 | NIPBL | c.5710-5T>G (n.5710-5T>G) c.1-38354T>G (n.1-38354T>G) c.4966-5T>G (n.4966-5T>G) c.5512-5T>G (n.5512-5T>G) c.5329-5T>G (n.5329-5T>G) c.5050-5T>G (n.5050-5T>G) c.4093-5T>G (n.4093-5T>G) c.4084-5T>G (n.4084-5T>G) | |
| 5 | g.37026225C>A | CA2673576530 | NIPBL | c.5710-4C>A (n.5710-4C>A) c.1-38353C>A (n.1-38353C>A) c.4966-4C>A (n.4966-4C>A) c.5512-4C>A (n.5512-4C>A) c.5329-4C>A (n.5329-4C>A) c.5050-4C>A (n.5050-4C>A) c.4093-4C>A (n.4093-4C>A) c.4084-4C>A (n.4084-4C>A) | gnomAD v4 |
| 5 | g.37026225C= | CA1539596155 | NIPBL | c.5710-4C= (n.5710-4C=) c.1-38353C= (n.1-38353C=) c.4966-4C= (n.4966-4C=) c.5512-4C= (n.5512-4C=) c.5329-4C= (n.5329-4C=) c.5050-4C= (n.5050-4C=) c.4093-4C= (n.4093-4C=) c.4084-4C= (n.4084-4C=) | |
| 5 | g.37026225C>G | CA3236837 | NIPBL | c.5710-4C>G (n.5710-4C>G) c.1-38353C>G (n.1-38353C>G) c.4966-4C>G (n.4966-4C>G) c.5512-4C>G (n.5512-4C>G) c.5329-4C>G (n.5329-4C>G) c.5050-4C>G (n.5050-4C>G) c.4093-4C>G (n.4093-4C>G) c.4084-4C>G (n.4084-4C>G) | dbSNP ExAC gnomAD v4 |
| 5 | g.37026226T>C | CA3236838 | NIPBL | c.5710-3T>C (n.5710-3T>C) c.1-38352T>C (n.1-38352T>C) c.4966-3T>C (n.4966-3T>C) c.5512-3T>C (n.5512-3T>C) c.5329-3T>C (n.5329-3T>C) c.5050-3T>C (n.5050-3T>C) c.4093-3T>C (n.4093-3T>C) c.4084-3T>C (n.4084-3T>C) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.37026226T= | CA1539596159 | NIPBL | c.5710-3T= (n.5710-3T=) c.1-38352T= (n.1-38352T=) c.4966-3T= (n.4966-3T=) c.5512-3T= (n.5512-3T=) c.5329-3T= (n.5329-3T=) c.5050-3T= (n.5050-3T=) c.4093-3T= (n.4093-3T=) c.4084-3T= (n.4084-3T=) | |
| 5 | g.37026227A>C | CA359491978 | NIPBL | c.5710-2A>C (n.5710-2A>C) c.1-38351A>C (n.1-38351A>C) c.4966-2A>C (n.4966-2A>C) c.5512-2A>C (n.5512-2A>C) c.5329-2A>C (n.5329-2A>C) c.5050-2A>C (n.5050-2A>C) c.4093-2A>C (n.4093-2A>C) c.4084-2A>C (n.4084-2A>C) | |
| 5 | g.37026227A>G | CA359491975 | NIPBL | c.5710-2A>G (n.5710-2A>G) c.1-38351A>G (n.1-38351A>G) c.4966-2A>G (n.4966-2A>G) c.5512-2A>G (n.5512-2A>G) c.5329-2A>G (n.5329-2A>G) c.5050-2A>G (n.5050-2A>G) c.4093-2A>G (n.4093-2A>G) c.4084-2A>G (n.4084-2A>G) | |
| 5 | g.37026227A>T | CA359491980 | NIPBL | c.5710-2A>T (n.5710-2A>T) c.1-38351A>T (n.1-38351A>T) c.4966-2A>T (n.4966-2A>T) c.5512-2A>T (n.5512-2A>T) c.5329-2A>T (n.5329-2A>T) c.5050-2A>T (n.5050-2A>T) c.4093-2A>T (n.4093-2A>T) c.4084-2A>T (n.4084-2A>T) | |
| 5 | g.37026228G>A | CA359491982 | NIPBL | c.5710-1G>A (n.5710-1G>A) c.1-38350G>A (n.1-38350G>A) c.4966-1G>A (n.4966-1G>A) c.5512-1G>A (n.5512-1G>A) c.5329-1G>A (n.5329-1G>A) c.5050-1G>A (n.5050-1G>A) c.4093-1G>A (n.4093-1G>A) c.4084-1G>A (n.4084-1G>A) | |
| 5 | g.37026228G>C | CA359491984 | NIPBL | c.5710-1G>C (n.5710-1G>C) c.1-38350G>C (n.1-38350G>C) c.4966-1G>C (n.4966-1G>C) c.5512-1G>C (n.5512-1G>C) c.5329-1G>C (n.5329-1G>C) c.5050-1G>C (n.5050-1G>C) c.4093-1G>C (n.4093-1G>C) c.4084-1G>C (n.4084-1G>C) | |
| 5 | g.37026228G>T | CA359491987 | NIPBL | c.5710-1G>T (n.5710-1G>T) c.1-38350G>T (n.1-38350G>T) c.4966-1G>T (n.4966-1G>T) c.5512-1G>T (n.5512-1G>T) c.5329-1G>T (n.5329-1G>T) c.5050-1G>T (n.5050-1G>T) c.4093-1G>T (n.4093-1G>T) c.4084-1G>T (n.4084-1G>T) | COSMIC COSMIC |
| 5 | g.37026229A>C | CA359491992 | NIPBL | c.5710A>C (p.Lys1904Gln) c.1-38349A>C (n.1-38349A>C) c.4966A>C (p.Lys1656Gln) c.5512A>C (p.Lys1838Gln) c.5329A>C (p.Lys1777Gln) c.5050A>C (p.Lys1684Gln) c.4093A>C (p.Lys1365Gln) c.4084A>C (p.Lys1362Gln) | |
| 5 | g.37026229A>G | CA359491993 | NIPBL | c.5710A>G (p.Lys1904Glu) c.1-38349A>G (n.1-38349A>G) c.4966A>G (p.Lys1656Glu) c.5512A>G (p.Lys1838Glu) c.5329A>G (p.Lys1777Glu) c.5050A>G (p.Lys1684Glu) c.4093A>G (p.Lys1365Glu) c.4084A>G (p.Lys1362Glu) | |
| 5 | g.37026229A>T | CA359491994 | NIPBL | c.5710A>T (p.Lys1904Ter) c.1-38349A>T (n.1-38349A>T) c.4966A>T (p.Lys1656Ter) c.5512A>T (p.Lys1838Ter) c.5329A>T (p.Lys1777Ter) c.5050A>T (p.Lys1684Ter) c.4093A>T (p.Lys1365Ter) c.4084A>T (p.Lys1362Ter) | |
| 5 | g.37026230A>C | CA359491998 | NIPBL | c.5711A>C (p.Lys1904Thr) c.1-38348A>C (n.1-38348A>C) c.4967A>C (p.Lys1656Thr) c.5513A>C (p.Lys1838Thr) c.5330A>C (p.Lys1777Thr) c.5051A>C (p.Lys1684Thr) c.4094A>C (p.Lys1365Thr) c.4085A>C (p.Lys1362Thr) | |
| 5 | g.37026230A>G | CA359491999 | NIPBL | c.5711A>G (p.Lys1904Arg) c.1-38348A>G (n.1-38348A>G) c.4967A>G (p.Lys1656Arg) c.5513A>G (p.Lys1838Arg) c.5330A>G (p.Lys1777Arg) c.5051A>G (p.Lys1684Arg) c.4094A>G (p.Lys1365Arg) c.4085A>G (p.Lys1362Arg) | gnomAD v4 |
| 5 | g.37026230A>T | CA359492002 | NIPBL | c.5711A>T (p.Lys1904Ile) c.1-38348A>T (n.1-38348A>T) c.4967A>T (p.Lys1656Ile) c.5513A>T (p.Lys1838Ile) c.5330A>T (p.Lys1777Ile) c.5051A>T (p.Lys1684Ile) c.4094A>T (p.Lys1365Ile) c.4085A>T (p.Lys1362Ile) | |
| 5 | g.37026231A= | CA1539596164 | NIPBL | c.5712A= (p.Lys1904=) c.1-38347A= (n.1-38347A=) c.4968A= (p.Lys1656=) c.5514A= (p.Lys1838=) c.5331A= (p.Lys1777=) c.5052A= (p.Lys1684=) c.4095A= (p.Lys1365=) c.4086A= (p.Lys1362=) | |
| 5 | g.37026231A>C | CA359492005 | NIPBL | c.5712A>C (p.Lys1904Asn) c.1-38347A>C (n.1-38347A>C) c.4968A>C (p.Lys1656Asn) c.5514A>C (p.Lys1838Asn) c.5331A>C (p.Lys1777Asn) c.5052A>C (p.Lys1684Asn) c.4095A>C (p.Lys1365Asn) c.4086A>C (p.Lys1362Asn) | |
| 5 | g.37026231A>G | CA3236839 | NIPBL | c.5712A>G (p.Lys1904=) c.1-38347A>G (n.1-38347A>G) c.4968A>G (p.Lys1656=) c.5514A>G (p.Lys1838=) c.5331A>G (p.Lys1777=) c.5052A>G (p.Lys1684=) c.4095A>G (p.Lys1365=) c.4086A>G (p.Lys1362=) | dbSNP ExAC gnomAD v2 gnomAD v3 |
| 5 | g.37026231A>T | CA359492009 | NIPBL | c.5712A>T (p.Lys1904Asn) c.1-38347A>T (n.1-38347A>T) c.4968A>T (p.Lys1656Asn) c.5514A>T (p.Lys1838Asn) c.5331A>T (p.Lys1777Asn) c.5052A>T (p.Lys1684Asn) c.4095A>T (p.Lys1365Asn) c.4086A>T (p.Lys1362Asn) | |
| 5 | g.37026232T>A | CA359492014 | NIPBL | c.5713T>A (p.Leu1905Ile) c.1-38346T>A (n.1-38346T>A) c.4969T>A (p.Leu1657Ile) c.5515T>A (p.Leu1839Ile) c.5332T>A (p.Leu1778Ile) c.5053T>A (p.Leu1685Ile) c.4096T>A (p.Leu1366Ile) c.4087T>A (p.Leu1363Ile) | |
| 5 | g.37026232T>C | CA443905581 | NIPBL | c.5713T>C (p.Leu1905=) c.1-38346T>C (n.1-38346T>C) c.4969T>C (p.Leu1657=) c.5515T>C (p.Leu1839=) c.5332T>C (p.Leu1778=) c.5053T>C (p.Leu1685=) c.4096T>C (p.Leu1366=) c.4087T>C (p.Leu1363=) | |
| 5 | g.37026232T>G | CA359492011 | NIPBL | c.5713T>G (p.Leu1905Val) c.1-38346T>G (n.1-38346T>G) c.4969T>G (p.Leu1657Val) c.5515T>G (p.Leu1839Val) c.5332T>G (p.Leu1778Val) c.5053T>G (p.Leu1685Val) c.4096T>G (p.Leu1366Val) c.4087T>G (p.Leu1363Val) | |
| 5 | g.37026233T>A | CA359492016 | NIPBL | c.5714T>A (p.Leu1905Ter) c.1-38345T>A (n.1-38345T>A) c.4970T>A (p.Leu1657Ter) c.5516T>A (p.Leu1839Ter) c.5333T>A (p.Leu1778Ter) c.5054T>A (p.Leu1685Ter) c.4097T>A (p.Leu1366Ter) c.4088T>A (p.Leu1363Ter) | |
| 5 | g.37026233T>C | CA359492022 | NIPBL | c.5714T>C (p.Leu1905Ser) c.1-38345T>C (n.1-38345T>C) c.4970T>C (p.Leu1657Ser) c.5516T>C (p.Leu1839Ser) c.5333T>C (p.Leu1778Ser) c.5054T>C (p.Leu1685Ser) c.4097T>C (p.Leu1366Ser) c.4088T>C (p.Leu1363Ser) | |
| 5 | g.37026233T>G | CA359492023 | NIPBL | c.5714T>G (p.Leu1905Ter) c.1-38345T>G (n.1-38345T>G) c.4970T>G (p.Leu1657Ter) c.5516T>G (p.Leu1839Ter) c.5333T>G (p.Leu1778Ter) c.5054T>G (p.Leu1685Ter) c.4097T>G (p.Leu1366Ter) c.4088T>G (p.Leu1363Ter) | |
| 5 | g.37026234A= | CA1539596170 | NIPBL | c.5715A= (p.Leu1905=) c.1-38344A= (n.1-38344A=) c.4971A= (p.Leu1657=) c.5517A= (p.Leu1839=) c.5334A= (p.Leu1778=) c.5055A= (p.Leu1685=) c.4098A= (p.Leu1366=) c.4089A= (p.Leu1363=) | |
| 5 | g.37026234A>C | CA359492026 | NIPBL | c.5715A>C (p.Leu1905Phe) c.1-38344A>C (n.1-38344A>C) c.4971A>C (p.Leu1657Phe) c.5517A>C (p.Leu1839Phe) c.5334A>C (p.Leu1778Phe) c.5055A>C (p.Leu1685Phe) c.4098A>C (p.Leu1366Phe) c.4089A>C (p.Leu1363Phe) | |
| 5 | g.37026234A>G | CA117030838 | NIPBL | c.5715A>G (p.Leu1905=) c.1-38344A>G (n.1-38344A>G) c.4971A>G (p.Leu1657=) c.5517A>G (p.Leu1839=) c.5334A>G (p.Leu1778=) c.5055A>G (p.Leu1685=) c.4098A>G (p.Leu1366=) c.4089A>G (p.Leu1363=) | dbSNP |
| 5 | g.37026234A>T | CA359492030 | NIPBL | c.5715A>T (p.Leu1905Phe) c.1-38344A>T (n.1-38344A>T) c.4971A>T (p.Leu1657Phe) c.5517A>T (p.Leu1839Phe) c.5334A>T (p.Leu1778Phe) c.5055A>T (p.Leu1685Phe) c.4098A>T (p.Leu1366Phe) c.4089A>T (p.Leu1363Phe) | |
| 5 | g.37026235G>A | CA359492033 | NIPBL | c.5716G>A (p.Val1906Ile) c.1-38343G>A (n.1-38343G>A) c.4972G>A (p.Val1658Ile) c.5518G>A (p.Val1840Ile) c.5335G>A (p.Val1779Ile) c.5056G>A (p.Val1686Ile) c.4099G>A (p.Val1367Ile) c.4090G>A (p.Val1364Ile) | |
| 5 | g.37026235G>C | CA359492035 | NIPBL | c.5716G>C (p.Val1906Leu) c.1-38343G>C (n.1-38343G>C) c.4972G>C (p.Val1658Leu) c.5518G>C (p.Val1840Leu) c.5335G>C (p.Val1779Leu) c.5056G>C (p.Val1686Leu) c.4099G>C (p.Val1367Leu) c.4090G>C (p.Val1364Leu) | |
| 5 | g.37026235G>T | CA359492037 | NIPBL | c.5716G>T (p.Val1906Leu) c.1-38343G>T (n.1-38343G>T) c.4972G>T (p.Val1658Leu) c.5518G>T (p.Val1840Leu) c.5335G>T (p.Val1779Leu) c.5056G>T (p.Val1686Leu) c.4099G>T (p.Val1367Leu) c.4090G>T (p.Val1364Leu) | |
| 5 | g.37026236T>A | CA359492039 | NIPBL | c.5717T>A (p.Val1906Glu) c.1-38342T>A (n.1-38342T>A) c.4973T>A (p.Val1658Glu) c.5519T>A (p.Val1840Glu) c.5336T>A (p.Val1779Glu) c.5057T>A (p.Val1686Glu) c.4100T>A (p.Val1367Glu) c.4091T>A (p.Val1364Glu) | |
| 5 | g.37026236T>C | CA359492041 | NIPBL | c.5717T>C (p.Val1906Ala) c.1-38342T>C (n.1-38342T>C) c.4973T>C (p.Val1658Ala) c.5519T>C (p.Val1840Ala) c.5336T>C (p.Val1779Ala) c.5057T>C (p.Val1686Ala) c.4100T>C (p.Val1367Ala) c.4091T>C (p.Val1364Ala) | |
| 5 | g.37026236T>G | CA359492043 | NIPBL | c.5717T>G (p.Val1906Gly) c.1-38342T>G (n.1-38342T>G) c.4973T>G (p.Val1658Gly) c.5519T>G (p.Val1840Gly) c.5336T>G (p.Val1779Gly) c.5057T>G (p.Val1686Gly) c.4100T>G (p.Val1367Gly) c.4091T>G (p.Val1364Gly) | |
| 5 | g.37026237A>C | CA443905583 | NIPBL | c.5718A>C (p.Val1906=) c.1-38341A>C (n.1-38341A>C) c.4974A>C (p.Val1658=) c.5520A>C (p.Val1840=) c.5337A>C (p.Val1779=) c.5058A>C (p.Val1686=) c.4101A>C (p.Val1367=) c.4092A>C (p.Val1364=) | |
| 5 | g.37026237A>G | CA443905582 | NIPBL | c.5718A>G (p.Val1906=) c.1-38341A>G (n.1-38341A>G) c.4974A>G (p.Val1658=) c.5520A>G (p.Val1840=) c.5337A>G (p.Val1779=) c.5058A>G (p.Val1686=) c.4101A>G (p.Val1367=) c.4092A>G (p.Val1364=) | gnomAD v4 |
| 5 | g.37026237A>T | CA443905584 | NIPBL | c.5718A>T (p.Val1906=) c.1-38341A>T (n.1-38341A>T) c.4974A>T (p.Val1658=) c.5520A>T (p.Val1840=) c.5337A>T (p.Val1779=) c.5058A>T (p.Val1686=) c.4101A>T (p.Val1367=) c.4092A>T (p.Val1364=) | |
| 5 | g.37026240_37026244del | CA2695204343 | NIPBL | c.5721_5725del (p.Glu1908IlefsTer13) c.1-38338_1-38334del (n.1-38338_1-38334del) c.4977_4981del (p.Glu1660IlefsTer13) c.5523_5527del (p.Glu1842IlefsTer13) c.5340_5344del (p.Glu1781IlefsTer13) c.5061_5065del (p.Glu1688IlefsTer13) c.4104_4108del (p.Glu1369IlefsTer13) c.4095_4099del (p.Glu1366IlefsTer13) | |
| 5 | g.37026238A>C | CA359492058 | NIPBL | c.5719A>C (p.Asn1907His) c.1-38340A>C (n.1-38340A>C) c.4975A>C (p.Asn1659His) c.5521A>C (p.Asn1841His) c.5338A>C (p.Asn1780His) c.5059A>C (p.Asn1687His) c.4102A>C (p.Asn1368His) c.4093A>C (p.Asn1365His) | |
| 5 | g.37026238A>G | CA359492051 | NIPBL | c.5719A>G (p.Asn1907Asp) c.1-38340A>G (n.1-38340A>G) c.4975A>G (p.Asn1659Asp) c.5521A>G (p.Asn1841Asp) c.5338A>G (p.Asn1780Asp) c.5059A>G (p.Asn1687Asp) c.4102A>G (p.Asn1368Asp) c.4093A>G (p.Asn1365Asp) | |
| 5 | g.37026238A>T | CA359492046 | NIPBL | c.5719A>T (p.Asn1907Tyr) c.1-38340A>T (n.1-38340A>T) c.4975A>T (p.Asn1659Tyr) c.5521A>T (p.Asn1841Tyr) c.5338A>T (p.Asn1780Tyr) c.5059A>T (p.Asn1687Tyr) c.4102A>T (p.Asn1368Tyr) c.4093A>T (p.Asn1365Tyr) | |
| 5 | g.37026239A>C | CA359492060 | NIPBL | c.5720A>C (p.Asn1907Thr) c.1-38339A>C (n.1-38339A>C) c.4976A>C (p.Asn1659Thr) c.5522A>C (p.Asn1841Thr) c.5339A>C (p.Asn1780Thr) c.5060A>C (p.Asn1687Thr) c.4103A>C (p.Asn1368Thr) c.4094A>C (p.Asn1365Thr) | |
| 5 | g.37026239A>G | CA359492062 | NIPBL | c.5720A>G (p.Asn1907Ser) c.1-38339A>G (n.1-38339A>G) c.4976A>G (p.Asn1659Ser) c.5522A>G (p.Asn1841Ser) c.5339A>G (p.Asn1780Ser) c.5060A>G (p.Asn1687Ser) c.4103A>G (p.Asn1368Ser) c.4094A>G (p.Asn1365Ser) | |
| 5 | g.37026239A>T | CA359492065 | NIPBL | c.5720A>T (p.Asn1907Ile) c.1-38339A>T (n.1-38339A>T) c.4976A>T (p.Asn1659Ile) c.5522A>T (p.Asn1841Ile) c.5339A>T (p.Asn1780Ile) c.5060A>T (p.Asn1687Ile) c.4103A>T (p.Asn1368Ile) c.4094A>T (p.Asn1365Ile) | |
| 5 | g.37026240T>A | CA359492066 | NIPBL | c.5721T>A (p.Asn1907Lys) c.1-38338T>A (n.1-38338T>A) c.4977T>A (p.Asn1659Lys) c.5523T>A (p.Asn1841Lys) c.5340T>A (p.Asn1780Lys) c.5061T>A (p.Asn1687Lys) c.4104T>A (p.Asn1368Lys) c.4095T>A (p.Asn1365Lys) | |
| 5 | g.37026240T>C | CA443905585 | NIPBL | c.5721T>C (p.Asn1907=) c.1-38338T>C (n.1-38338T>C) c.4977T>C (p.Asn1659=) c.5523T>C (p.Asn1841=) c.5340T>C (p.Asn1780=) c.5061T>C (p.Asn1687=) c.4104T>C (p.Asn1368=) c.4095T>C (p.Asn1365=) | |
| 5 | g.37026240T>G | CA359492069 | NIPBL | c.5721T>G (p.Asn1907Lys) c.1-38338T>G (n.1-38338T>G) c.4977T>G (p.Asn1659Lys) c.5523T>G (p.Asn1841Lys) c.5340T>G (p.Asn1780Lys) c.5061T>G (p.Asn1687Lys) c.4104T>G (p.Asn1368Lys) c.4095T>G (p.Asn1365Lys) | |
| 5 | g.37026241G>A | CA359492071 | NIPBL | c.5722G>A (p.Glu1908Lys) c.1-38337G>A (n.1-38337G>A) c.4978G>A (p.Glu1660Lys) c.5524G>A (p.Glu1842Lys) c.5341G>A (p.Glu1781Lys) c.5062G>A (p.Glu1688Lys) c.4105G>A (p.Glu1369Lys) c.4096G>A (p.Glu1366Lys) | |
| 5 | g.37026241G>C | CA359492072 | NIPBL | c.5722G>C (p.Glu1908Gln) c.1-38337G>C (n.1-38337G>C) c.4978G>C (p.Glu1660Gln) c.5524G>C (p.Glu1842Gln) c.5341G>C (p.Glu1781Gln) c.5062G>C (p.Glu1688Gln) c.4105G>C (p.Glu1369Gln) c.4096G>C (p.Glu1366Gln) | |
| 5 | g.37026241G>T | CA359492075 | NIPBL | c.5722G>T (p.Glu1908Ter) c.1-38337G>T (n.1-38337G>T) c.4978G>T (p.Glu1660Ter) c.5524G>T (p.Glu1842Ter) c.5341G>T (p.Glu1781Ter) c.5062G>T (p.Glu1688Ter) c.4105G>T (p.Glu1369Ter) c.4096G>T (p.Glu1366Ter) | |
| 5 | g.37026242A>C | CA359492078 | NIPBL | c.5723A>C (p.Glu1908Ala) c.1-38336A>C (n.1-38336A>C) c.4979A>C (p.Glu1660Ala) c.5525A>C (p.Glu1842Ala) c.5342A>C (p.Glu1781Ala) c.5063A>C (p.Glu1688Ala) c.4106A>C (p.Glu1369Ala) c.4097A>C (p.Glu1366Ala) | |
| 5 | g.37026242A>G | CA359492081 | NIPBL | c.5723A>G (p.Glu1908Gly) c.1-38336A>G (n.1-38336A>G) c.4979A>G (p.Glu1660Gly) c.5525A>G (p.Glu1842Gly) c.5342A>G (p.Glu1781Gly) c.5063A>G (p.Glu1688Gly) c.4106A>G (p.Glu1369Gly) c.4097A>G (p.Glu1366Gly) | gnomAD v4 |
| 5 | g.37026242A>T | CA359492083 | NIPBL | c.5723A>T (p.Glu1908Val) c.1-38336A>T (n.1-38336A>T) c.4979A>T (p.Glu1660Val) c.5525A>T (p.Glu1842Val) c.5342A>T (p.Glu1781Val) c.5063A>T (p.Glu1688Val) c.4106A>T (p.Glu1369Val) c.4097A>T (p.Glu1366Val) | |
| 5 | g.37026244dup | CA2573139629 | NIPBL | c.5725dup (p.Thr1909AsnfsTer14) c.1-38334dup (n.1-38334dup) c.4981dup (p.Thr1661AsnfsTer14) c.5527dup (p.Thr1843AsnfsTer14) c.5344dup (p.Thr1782AsnfsTer14) c.5065dup (p.Thr1689AsnfsTer14) c.4108dup (p.Thr1370AsnfsTer14) c.4099dup (p.Thr1367AsnfsTer14) | ClinVar dbSNP |
| 5 | g.37026243A>C | CA359492084 | NIPBL | c.5724A>C (p.Glu1908Asp) c.1-38335A>C (n.1-38335A>C) c.4980A>C (p.Glu1660Asp) c.5526A>C (p.Glu1842Asp) c.5343A>C (p.Glu1781Asp) c.5064A>C (p.Glu1688Asp) c.4107A>C (p.Glu1369Asp) c.4098A>C (p.Glu1366Asp) | |
| 5 | g.37026243A>G | CA443905586 | NIPBL | c.5724A>G (p.Glu1908=) c.1-38335A>G (n.1-38335A>G) c.4980A>G (p.Glu1660=) c.5526A>G (p.Glu1842=) c.5343A>G (p.Glu1781=) c.5064A>G (p.Glu1688=) c.4107A>G (p.Glu1369=) c.4098A>G (p.Glu1366=) | |
| 5 | g.37026243A>T | CA359492087 | NIPBL | c.5724A>T (p.Glu1908Asp) c.1-38335A>T (n.1-38335A>T) c.4980A>T (p.Glu1660Asp) c.5526A>T (p.Glu1842Asp) c.5343A>T (p.Glu1781Asp) c.5064A>T (p.Glu1688Asp) c.4107A>T (p.Glu1369Asp) c.4098A>T (p.Glu1366Asp) | |
| 5 | g.37026244A>C | CA359492090 | NIPBL | c.5725A>C (p.Thr1909Pro) c.1-38334A>C (n.1-38334A>C) c.4981A>C (p.Thr1661Pro) c.5527A>C (p.Thr1843Pro) c.5344A>C (p.Thr1782Pro) c.5065A>C (p.Thr1689Pro) c.4108A>C (p.Thr1370Pro) c.4099A>C (p.Thr1367Pro) | |
| 5 | g.37026244A>G | CA359492094 | NIPBL | c.5725A>G (p.Thr1909Ala) c.1-38334A>G (n.1-38334A>G) c.4981A>G (p.Thr1661Ala) c.5527A>G (p.Thr1843Ala) c.5344A>G (p.Thr1782Ala) c.5065A>G (p.Thr1689Ala) c.4108A>G (p.Thr1370Ala) c.4099A>G (p.Thr1367Ala) | gnomAD v4 |
| 5 | g.37026244A>T | CA359492092 | NIPBL | c.5725A>T (p.Thr1909Ser) c.1-38334A>T (n.1-38334A>T) c.4981A>T (p.Thr1661Ser) c.5527A>T (p.Thr1843Ser) c.5344A>T (p.Thr1782Ser) c.5065A>T (p.Thr1689Ser) c.4108A>T (p.Thr1370Ser) c.4099A>T (p.Thr1367Ser) | |
| 5 | g.37026245C>A | CA359492096 | NIPBL | c.5726C>A (p.Thr1909Lys) c.1-38333C>A (n.1-38333C>A) c.4982C>A (p.Thr1661Lys) c.5528C>A (p.Thr1843Lys) c.5345C>A (p.Thr1782Lys) c.5066C>A (p.Thr1689Lys) c.4109C>A (p.Thr1370Lys) c.4100C>A (p.Thr1367Lys) | gnomAD v4 |
| 5 | g.37026245C>G | CA359492099 | NIPBL | c.5726C>G (p.Thr1909Arg) c.1-38333C>G (n.1-38333C>G) c.4982C>G (p.Thr1661Arg) c.5528C>G (p.Thr1843Arg) c.5345C>G (p.Thr1782Arg) c.5066C>G (p.Thr1689Arg) c.4109C>G (p.Thr1370Arg) c.4100C>G (p.Thr1367Arg) | |
| 5 | g.37026245C>T | CA359492101 | NIPBL | c.5726C>T (p.Thr1909Ile) c.1-38333C>T (n.1-38333C>T) c.4982C>T (p.Thr1661Ile) c.5528C>T (p.Thr1843Ile) c.5345C>T (p.Thr1782Ile) c.5066C>T (p.Thr1689Ile) c.4109C>T (p.Thr1370Ile) c.4100C>T (p.Thr1367Ile) | gnomAD v4 |
| 5 | g.37026246A>C | CA443905587 | NIPBL | c.5727A>C (p.Thr1909=) c.1-38332A>C (n.1-38332A>C) c.4983A>C (p.Thr1661=) c.5529A>C (p.Thr1843=) c.5346A>C (p.Thr1782=) c.5067A>C (p.Thr1689=) c.4110A>C (p.Thr1370=) c.4101A>C (p.Thr1367=) | |
| 5 | g.37026246A>G | CA443905588 | NIPBL | c.5727A>G (p.Thr1909=) c.1-38332A>G (n.1-38332A>G) c.4983A>G (p.Thr1661=) c.5529A>G (p.Thr1843=) c.5346A>G (p.Thr1782=) c.5067A>G (p.Thr1689=) c.4110A>G (p.Thr1370=) c.4101A>G (p.Thr1367=) | gnomAD v4 |
| 5 | g.37026246A>T | CA443905589 | NIPBL | c.5727A>T (p.Thr1909=) c.1-38332A>T (n.1-38332A>T) c.4983A>T (p.Thr1661=) c.5529A>T (p.Thr1843=) c.5346A>T (p.Thr1782=) c.5067A>T (p.Thr1689=) c.4110A>T (p.Thr1370=) c.4101A>T (p.Thr1367=) | |
| 5 | g.37026247T>A | CA359492105 | NIPBL | c.5728T>A (p.Phe1910Ile) c.1-38331T>A (n.1-38331T>A) c.4984T>A (p.Phe1662Ile) c.5530T>A (p.Phe1844Ile) c.5347T>A (p.Phe1783Ile) c.5068T>A (p.Phe1690Ile) c.4111T>A (p.Phe1371Ile) c.4102T>A (p.Phe1368Ile) | |
| 5 | g.37026247T>C | CA359492108 | NIPBL | c.5728T>C (p.Phe1910Leu) c.1-38331T>C (n.1-38331T>C) c.4984T>C (p.Phe1662Leu) c.5530T>C (p.Phe1844Leu) c.5347T>C (p.Phe1783Leu) c.5068T>C (p.Phe1690Leu) c.4111T>C (p.Phe1371Leu) c.4102T>C (p.Phe1368Leu) | |
| 5 | g.37026247T>G | CA359492111 | NIPBL | c.5728T>G (p.Phe1910Val) c.1-38331T>G (n.1-38331T>G) c.4984T>G (p.Phe1662Val) c.5530T>G (p.Phe1844Val) c.5347T>G (p.Phe1783Val) c.5068T>G (p.Phe1690Val) c.4111T>G (p.Phe1371Val) c.4102T>G (p.Phe1368Val) | |
| 5 | g.37026248T>A | CA359492113 | NIPBL | c.5729T>A (p.Phe1910Tyr) c.1-38330T>A (n.1-38330T>A) c.4985T>A (p.Phe1662Tyr) c.5531T>A (p.Phe1844Tyr) c.5348T>A (p.Phe1783Tyr) c.5069T>A (p.Phe1690Tyr) c.4112T>A (p.Phe1371Tyr) c.4103T>A (p.Phe1368Tyr) | |
| 5 | g.37026248T>C | CA359492115 | NIPBL | c.5729T>C (p.Phe1910Ser) c.1-38330T>C (n.1-38330T>C) c.4985T>C (p.Phe1662Ser) c.5531T>C (p.Phe1844Ser) c.5348T>C (p.Phe1783Ser) c.5069T>C (p.Phe1690Ser) c.4112T>C (p.Phe1371Ser) c.4103T>C (p.Phe1368Ser) | |
| 5 | g.37026248T>G | CA359492117 | NIPBL | c.5729T>G (p.Phe1910Cys) c.1-38330T>G (n.1-38330T>G) c.4985T>G (p.Phe1662Cys) c.5531T>G (p.Phe1844Cys) c.5348T>G (p.Phe1783Cys) c.5069T>G (p.Phe1690Cys) c.4112T>G (p.Phe1371Cys) c.4103T>G (p.Phe1368Cys) | |
| 5 | g.37026249C>A | CA359492118 | NIPBL | c.5730C>A (p.Phe1910Leu) c.1-38329C>A (n.1-38329C>A) c.4986C>A (p.Phe1662Leu) c.5532C>A (p.Phe1844Leu) c.5349C>A (p.Phe1783Leu) c.5070C>A (p.Phe1690Leu) c.4113C>A (p.Phe1371Leu) c.4104C>A (p.Phe1368Leu) | |
| 5 | g.37026249C= | CA1539596177 | NIPBL | c.5730C= (p.Phe1910=) c.1-38329C= (n.1-38329C=) c.4986C= (p.Phe1662=) c.5532C= (p.Phe1844=) c.5349C= (p.Phe1783=) c.5070C= (p.Phe1690=) c.4113C= (p.Phe1371=) c.4104C= (p.Phe1368=) | |
| 5 | g.37026249C>G | CA359492119 | NIPBL | c.5730C>G (p.Phe1910Leu) c.1-38329C>G (n.1-38329C>G) c.4986C>G (p.Phe1662Leu) c.5532C>G (p.Phe1844Leu) c.5349C>G (p.Phe1783Leu) c.5070C>G (p.Phe1690Leu) c.4113C>G (p.Phe1371Leu) c.4104C>G (p.Phe1368Leu) | |
| 5 | g.37026249C>T | CA443905590 | NIPBL | c.5730C>T (p.Phe1910=) c.1-38329C>T (n.1-38329C>T) c.4986C>T (p.Phe1662=) c.5532C>T (p.Phe1844=) c.5349C>T (p.Phe1783=) c.5070C>T (p.Phe1690=) c.4113C>T (p.Phe1371=) c.4104C>T (p.Phe1368=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026250C>A | CA359492123 | NIPBL | c.5731C>A (p.Gln1911Lys) c.1-38328C>A (n.1-38328C>A) c.4987C>A (p.Gln1663Lys) c.5533C>A (p.Gln1845Lys) c.5350C>A (p.Gln1784Lys) c.5071C>A (p.Gln1691Lys) c.4114C>A (p.Gln1372Lys) c.4105C>A (p.Gln1369Lys) | |
| 5 | g.37026250C>G | CA359492125 | NIPBL | c.5731C>G (p.Gln1911Glu) c.1-38328C>G (n.1-38328C>G) c.4987C>G (p.Gln1663Glu) c.5533C>G (p.Gln1845Glu) c.5350C>G (p.Gln1784Glu) c.5071C>G (p.Gln1691Glu) c.4114C>G (p.Gln1372Glu) c.4105C>G (p.Gln1369Glu) | |
| 5 | g.37026250C>T | CA359492121 | NIPBL | c.5731C>T (p.Gln1911Ter) c.1-38328C>T (n.1-38328C>T) c.4987C>T (p.Gln1663Ter) c.5533C>T (p.Gln1845Ter) c.5350C>T (p.Gln1784Ter) c.5071C>T (p.Gln1691Ter) c.4114C>T (p.Gln1372Ter) c.4105C>T (p.Gln1369Ter) | |
| 5 | g.37026251A= | CA1539596185 | NIPBL | c.5732A= (p.Gln1911=) c.1-38327A= (n.1-38327A=) c.4988A= (p.Gln1663=) c.5534A= (p.Gln1845=) c.5351A= (p.Gln1784=) c.5072A= (p.Gln1691=) c.4115A= (p.Gln1372=) c.4106A= (p.Gln1369=) | |
| 5 | g.37026251A>C | CA272166 | NIPBL | c.5732A>C (p.Gln1911Pro) c.1-38327A>C (n.1-38327A>C) c.4988A>C (p.Gln1663Pro) c.5534A>C (p.Gln1845Pro) c.5351A>C (p.Gln1784Pro) c.5072A>C (p.Gln1691Pro) c.4115A>C (p.Gln1372Pro) c.4106A>C (p.Gln1369Pro) | ClinVar dbSNP |
| 5 | g.37026251A>G | CA359492126 | NIPBL | c.5732A>G (p.Gln1911Arg) c.1-38327A>G (n.1-38327A>G) c.4988A>G (p.Gln1663Arg) c.5534A>G (p.Gln1845Arg) c.5351A>G (p.Gln1784Arg) c.5072A>G (p.Gln1691Arg) c.4115A>G (p.Gln1372Arg) c.4106A>G (p.Gln1369Arg) | |
| 5 | g.37026251A>T | CA359492128 | NIPBL | c.5732A>T (p.Gln1911Leu) c.1-38327A>T (n.1-38327A>T) c.4988A>T (p.Gln1663Leu) c.5534A>T (p.Gln1845Leu) c.5351A>T (p.Gln1784Leu) c.5072A>T (p.Gln1691Leu) c.4115A>T (p.Gln1372Leu) c.4106A>T (p.Gln1369Leu) | |
| 5 | g.37026252G>A | CA443905591 | NIPBL | c.5733G>A (p.Gln1911=) c.1-38326G>A (n.1-38326G>A) c.4989G>A (p.Gln1663=) c.5535G>A (p.Gln1845=) c.5352G>A (p.Gln1784=) c.5073G>A (p.Gln1691=) c.4116G>A (p.Gln1372=) c.4107G>A (p.Gln1369=) | COSMIC COSMIC |
| 5 | g.37026252G>C | CA359492131 | NIPBL | c.5733G>C (p.Gln1911His) c.1-38326G>C (n.1-38326G>C) c.4989G>C (p.Gln1663His) c.5535G>C (p.Gln1845His) c.5352G>C (p.Gln1784His) c.5073G>C (p.Gln1691His) c.4116G>C (p.Gln1372His) c.4107G>C (p.Gln1369His) | |
| 5 | g.37026252G>T | CA359492132 | NIPBL | c.5733G>T (p.Gln1911His) c.1-38326G>T (n.1-38326G>T) c.4989G>T (p.Gln1663His) c.5535G>T (p.Gln1845His) c.5352G>T (p.Gln1784His) c.5073G>T (p.Gln1691His) c.4116G>T (p.Gln1372His) c.4107G>T (p.Gln1369His) | |
| 5 | g.37026253A>C | CA359492133 | NIPBL | c.5734A>C (p.Lys1912Gln) c.1-38325A>C (n.1-38325A>C) c.4990A>C (p.Lys1664Gln) c.5536A>C (p.Lys1846Gln) c.5353A>C (p.Lys1785Gln) c.5074A>C (p.Lys1692Gln) c.4117A>C (p.Lys1373Gln) c.4108A>C (p.Lys1370Gln) | |
| 5 | g.37026253A>G | CA359492135 | NIPBL | c.5734A>G (p.Lys1912Glu) c.1-38325A>G (n.1-38325A>G) c.4990A>G (p.Lys1664Glu) c.5536A>G (p.Lys1846Glu) c.5353A>G (p.Lys1785Glu) c.5074A>G (p.Lys1692Glu) c.4117A>G (p.Lys1373Glu) c.4108A>G (p.Lys1370Glu) | |
| 5 | g.37026253A>T | CA359492137 | NIPBL | c.5734A>T (p.Lys1912Ter) c.1-38325A>T (n.1-38325A>T) c.4990A>T (p.Lys1664Ter) c.5536A>T (p.Lys1846Ter) c.5353A>T (p.Lys1785Ter) c.5074A>T (p.Lys1692Ter) c.4117A>T (p.Lys1373Ter) c.4108A>T (p.Lys1370Ter) | |
| 5 | g.37026254A>C | CA359492138 | NIPBL | c.5735A>C (p.Lys1912Thr) c.1-38324A>C (n.1-38324A>C) c.4991A>C (p.Lys1664Thr) c.5537A>C (p.Lys1846Thr) c.5354A>C (p.Lys1785Thr) c.5075A>C (p.Lys1692Thr) c.4118A>C (p.Lys1373Thr) c.4109A>C (p.Lys1370Thr) | |
| 5 | g.37026254A>G | CA359492140 | NIPBL | c.5735A>G (p.Lys1912Arg) c.1-38324A>G (n.1-38324A>G) c.4991A>G (p.Lys1664Arg) c.5537A>G (p.Lys1846Arg) c.5354A>G (p.Lys1785Arg) c.5075A>G (p.Lys1692Arg) c.4118A>G (p.Lys1373Arg) c.4109A>G (p.Lys1370Arg) | |
| 5 | g.37026254A>T | CA359492141 | NIPBL | c.5735A>T (p.Lys1912Ile) c.1-38324A>T (n.1-38324A>T) c.4991A>T (p.Lys1664Ile) c.5537A>T (p.Lys1846Ile) c.5354A>T (p.Lys1785Ile) c.5075A>T (p.Lys1692Ile) c.4118A>T (p.Lys1373Ile) c.4109A>T (p.Lys1370Ile) | |
| 5 | g.37026255A>C | CA359492143 | NIPBL | c.5736A>C (p.Lys1912Asn) c.1-38323A>C (n.1-38323A>C) c.4992A>C (p.Lys1664Asn) c.5538A>C (p.Lys1846Asn) c.5355A>C (p.Lys1785Asn) c.5076A>C (p.Lys1692Asn) c.4119A>C (p.Lys1373Asn) c.4110A>C (p.Lys1370Asn) | |
| 5 | g.37026255A>G | CA443905592 | NIPBL | c.5736A>G (p.Lys1912=) c.1-38323A>G (n.1-38323A>G) c.4992A>G (p.Lys1664=) c.5538A>G (p.Lys1846=) c.5355A>G (p.Lys1785=) c.5076A>G (p.Lys1692=) c.4119A>G (p.Lys1373=) c.4110A>G (p.Lys1370=) | |
| 5 | g.37026255A>T | CA359492144 | NIPBL | c.5736A>T (p.Lys1912Asn) c.1-38323A>T (n.1-38323A>T) c.4992A>T (p.Lys1664Asn) c.5538A>T (p.Lys1846Asn) c.5355A>T (p.Lys1785Asn) c.5076A>T (p.Lys1692Asn) c.4119A>T (p.Lys1373Asn) c.4110A>T (p.Lys1370Asn) | |
| 5 | g.37026255_37026257delinsACT | CA1539596192 | NIPBL | c.5736_5738delinsACT (p.Lys1912=) c.1-38323_1-38321delinsACT (n.1-38323_1-38321delinsACT) c.4992_4994delinsACT (p.Lys1664=) c.5538_5540delinsACT (p.Lys1846=) c.5355_5357delinsACT (p.Lys1785=) c.5076_5078delinsACT (p.Lys1692=) c.4119_4121delinsACT (p.Lys1373=) c.4110_4112delinsACT (p.Lys1370=) | |
| 5 | g.37026256C>A | CA359492151 | NIPBL | c.5737C>A (p.Leu1913Ile) c.1-38322C>A (n.1-38322C>A) c.4993C>A (p.Leu1665Ile) c.5539C>A (p.Leu1847Ile) c.5356C>A (p.Leu1786Ile) c.5077C>A (p.Leu1693Ile) c.4120C>A (p.Leu1374Ile) c.4111C>A (p.Leu1371Ile) | gnomAD v4 |
| 5 | g.37026256C= | CA1539596200 | NIPBL | c.5737C= (p.Leu1913=) c.1-38322C= (n.1-38322C=) c.4993C= (p.Leu1665=) c.5539C= (p.Leu1847=) c.5356C= (p.Leu1786=) c.5077C= (p.Leu1693=) c.4120C= (p.Leu1374=) c.4111C= (p.Leu1371=) | |
| 5 | g.37026256C>G | CA359492149 | NIPBL | c.5737C>G (p.Leu1913Val) c.1-38322C>G (n.1-38322C>G) c.4993C>G (p.Leu1665Val) c.5539C>G (p.Leu1847Val) c.5356C>G (p.Leu1786Val) c.5077C>G (p.Leu1693Val) c.4120C>G (p.Leu1374Val) c.4111C>G (p.Leu1371Val) | |
| 5 | g.37026256C>T | CA359492146 | NIPBL | c.5737C>T (p.Leu1913Phe) c.1-38322C>T (n.1-38322C>T) c.4993C>T (p.Leu1665Phe) c.5539C>T (p.Leu1847Phe) c.5356C>T (p.Leu1786Phe) c.5077C>T (p.Leu1693Phe) c.4120C>T (p.Leu1374Phe) c.4111C>T (p.Leu1371Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37026258_37026259del | CA277363 | NIPBL | c.5739_5740del (p.Trp1914ValfsTer8) c.1-38320_1-38319del (n.1-38320_1-38319del) c.4995_4996del (p.Trp1666ValfsTer8) c.5541_5542del (p.Trp1848ValfsTer8) c.5358_5359del (p.Trp1787ValfsTer8) c.5079_5080del (p.Trp1694ValfsTer8) c.4122_4123del (p.Trp1375ValfsTer8) c.4113_4114del (p.Trp1372ValfsTer8) | ClinVar dbSNP |
| 5 | g.37026257T>A | CA359492153 | NIPBL | c.5738T>A (p.Leu1913His) c.1-38321T>A (n.1-38321T>A) c.4994T>A (p.Leu1665His) c.5540T>A (p.Leu1847His) c.5357T>A (p.Leu1786His) c.5078T>A (p.Leu1693His) c.4121T>A (p.Leu1374His) c.4112T>A (p.Leu1371His) | |
| 5 | g.37026257T>C | CA359492155 | NIPBL | c.5738T>C (p.Leu1913Pro) c.1-38321T>C (n.1-38321T>C) c.4994T>C (p.Leu1665Pro) c.5540T>C (p.Leu1847Pro) c.5357T>C (p.Leu1786Pro) c.5078T>C (p.Leu1693Pro) c.4121T>C (p.Leu1374Pro) c.4112T>C (p.Leu1371Pro) | |
| 5 | g.37026257T>G | CA359492156 | NIPBL | c.5738T>G (p.Leu1913Arg) c.1-38321T>G (n.1-38321T>G) c.4994T>G (p.Leu1665Arg) c.5540T>G (p.Leu1847Arg) c.5357T>G (p.Leu1786Arg) c.5078T>G (p.Leu1693Arg) c.4121T>G (p.Leu1374Arg) c.4112T>G (p.Leu1371Arg) | |
| 5 | g.37026258C>A | CA443905593 | NIPBL | c.5739C>A (p.Leu1913=) c.1-38320C>A (n.1-38320C>A) c.4995C>A (p.Leu1665=) c.5541C>A (p.Leu1847=) c.5358C>A (p.Leu1786=) c.5079C>A (p.Leu1693=) c.4122C>A (p.Leu1374=) c.4113C>A (p.Leu1371=) | |
| 5 | g.37026258C= | CA1539596214 | NIPBL | c.5739C= (p.Leu1913=) c.1-38320C= (n.1-38320C=) c.4995C= (p.Leu1665=) c.5541C= (p.Leu1847=) c.5358C= (p.Leu1786=) c.5079C= (p.Leu1693=) c.4122C= (p.Leu1374=) c.4113C= (p.Leu1371=) | |
| 5 | g.37026258C>G | CA443905594 | NIPBL | c.5739C>G (p.Leu1913=) c.1-38320C>G (n.1-38320C>G) c.4995C>G (p.Leu1665=) c.5541C>G (p.Leu1847=) c.5358C>G (p.Leu1786=) c.5079C>G (p.Leu1693=) c.4122C>G (p.Leu1374=) c.4113C>G (p.Leu1371=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37026258C>T | CA443905595 | NIPBL | c.5739C>T (p.Leu1913=) c.1-38320C>T (n.1-38320C>T) c.4995C>T (p.Leu1665=) c.5541C>T (p.Leu1847=) c.5358C>T (p.Leu1786=) c.5079C>T (p.Leu1693=) c.4122C>T (p.Leu1374=) c.4113C>T (p.Leu1371=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37026259T>A | CA359492158 | NIPBL | c.5740T>A (p.Trp1914Arg) c.1-38319T>A (n.1-38319T>A) c.4996T>A (p.Trp1666Arg) c.5542T>A (p.Trp1848Arg) c.5359T>A (p.Trp1787Arg) c.5080T>A (p.Trp1694Arg) c.4123T>A (p.Trp1375Arg) c.4114T>A (p.Trp1372Arg) | |
| 5 | g.37026259T>C | CA359492159 | NIPBL | c.5740T>C (p.Trp1914Arg) c.1-38319T>C (n.1-38319T>C) c.4996T>C (p.Trp1666Arg) c.5542T>C (p.Trp1848Arg) c.5359T>C (p.Trp1787Arg) c.5080T>C (p.Trp1694Arg) c.4123T>C (p.Trp1375Arg) c.4114T>C (p.Trp1372Arg) | |
| 5 | g.37026259T>G | CA359492161 | NIPBL | c.5740T>G (p.Trp1914Gly) c.1-38319T>G (n.1-38319T>G) c.4996T>G (p.Trp1666Gly) c.5542T>G (p.Trp1848Gly) c.5359T>G (p.Trp1787Gly) c.5080T>G (p.Trp1694Gly) c.4123T>G (p.Trp1375Gly) c.4114T>G (p.Trp1372Gly) | |
| 5 | g.37026260G>A | CA359492163 | NIPBL | c.5741G>A (p.Trp1914Ter) c.1-38318G>A (n.1-38318G>A) c.4997G>A (p.Trp1666Ter) c.5543G>A (p.Trp1848Ter) c.5360G>A (p.Trp1787Ter) c.5081G>A (p.Trp1694Ter) c.4124G>A (p.Trp1375Ter) c.4115G>A (p.Trp1372Ter) | |
| 5 | g.37026260G>C | CA359492164 | NIPBL | c.5741G>C (p.Trp1914Ser) c.1-38318G>C (n.1-38318G>C) c.4997G>C (p.Trp1666Ser) c.5543G>C (p.Trp1848Ser) c.5360G>C (p.Trp1787Ser) c.5081G>C (p.Trp1694Ser) c.4124G>C (p.Trp1375Ser) c.4115G>C (p.Trp1372Ser) | ClinVar dbSNP |
| 5 | g.37026260G>T | CA359492165 | NIPBL | c.5741G>T (p.Trp1914Leu) c.1-38318G>T (n.1-38318G>T) c.4997G>T (p.Trp1666Leu) c.5543G>T (p.Trp1848Leu) c.5360G>T (p.Trp1787Leu) c.5081G>T (p.Trp1694Leu) c.4124G>T (p.Trp1375Leu) c.4115G>T (p.Trp1372Leu) | |
| 5 | g.37026261G>A | CA359492167 | NIPBL | c.5742G>A (p.Trp1914Ter) c.1-38317G>A (n.1-38317G>A) c.4998G>A (p.Trp1666Ter) c.5544G>A (p.Trp1848Ter) c.5361G>A (p.Trp1787Ter) c.5082G>A (p.Trp1694Ter) c.4125G>A (p.Trp1375Ter) c.4116G>A (p.Trp1372Ter) | |
| 5 | g.37026261G>C | CA359492169 | NIPBL | c.5742G>C (p.Trp1914Cys) c.1-38317G>C (n.1-38317G>C) c.4998G>C (p.Trp1666Cys) c.5544G>C (p.Trp1848Cys) c.5361G>C (p.Trp1787Cys) c.5082G>C (p.Trp1694Cys) c.4125G>C (p.Trp1375Cys) c.4116G>C (p.Trp1372Cys) | |
| 5 | g.37026261G>T | CA359492171 | NIPBL | c.5742G>T (p.Trp1914Cys) c.1-38317G>T (n.1-38317G>T) c.4998G>T (p.Trp1666Cys) c.5544G>T (p.Trp1848Cys) c.5361G>T (p.Trp1787Cys) c.5082G>T (p.Trp1694Cys) c.4125G>T (p.Trp1375Cys) c.4116G>T (p.Trp1372Cys) | |
| 5 | g.37026262T>A | CA359492174 | NIPBL | c.5743T>A (p.Phe1915Ile) c.1-38316T>A (n.1-38316T>A) c.4999T>A (p.Phe1667Ile) c.5545T>A (p.Phe1849Ile) c.5362T>A (p.Phe1788Ile) c.5083T>A (p.Phe1695Ile) c.4126T>A (p.Phe1376Ile) c.4117T>A (p.Phe1373Ile) | |
| 5 | g.37026262T>C | CA359492173 | NIPBL | c.5743T>C (p.Phe1915Leu) c.1-38316T>C (n.1-38316T>C) c.4999T>C (p.Phe1667Leu) c.5545T>C (p.Phe1849Leu) c.5362T>C (p.Phe1788Leu) c.5083T>C (p.Phe1695Leu) c.4126T>C (p.Phe1376Leu) c.4117T>C (p.Phe1373Leu) | |
| 5 | g.37026262T>G | CA359492172 | NIPBL | c.5743T>G (p.Phe1915Val) c.1-38316T>G (n.1-38316T>G) c.4999T>G (p.Phe1667Val) c.5545T>G (p.Phe1849Val) c.5362T>G (p.Phe1788Val) c.5083T>G (p.Phe1695Val) c.4126T>G (p.Phe1376Val) c.4117T>G (p.Phe1373Val) | |
| 5 | g.37026263T>A | CA359492175 | NIPBL | c.5744T>A (p.Phe1915Tyr) c.1-38315T>A (n.1-38315T>A) c.5000T>A (p.Phe1667Tyr) c.5546T>A (p.Phe1849Tyr) c.5363T>A (p.Phe1788Tyr) c.5084T>A (p.Phe1695Tyr) c.4127T>A (p.Phe1376Tyr) c.4118T>A (p.Phe1373Tyr) | |
| 5 | g.37026263T>C | CA359492176 | NIPBL | c.5744T>C (p.Phe1915Ser) c.1-38315T>C (n.1-38315T>C) c.5000T>C (p.Phe1667Ser) c.5546T>C (p.Phe1849Ser) c.5363T>C (p.Phe1788Ser) c.5084T>C (p.Phe1695Ser) c.4127T>C (p.Phe1376Ser) c.4118T>C (p.Phe1373Ser) | |
| 5 | g.37026263T>G | CA359492177 | NIPBL | c.5744T>G (p.Phe1915Cys) c.1-38315T>G (n.1-38315T>G) c.5000T>G (p.Phe1667Cys) c.5546T>G (p.Phe1849Cys) c.5363T>G (p.Phe1788Cys) c.5084T>G (p.Phe1695Cys) c.4127T>G (p.Phe1376Cys) c.4118T>G (p.Phe1373Cys) | |
| 5 | g.37026264T>A | CA359492179 | NIPBL | c.5745T>A (p.Phe1915Leu) c.1-38314T>A (n.1-38314T>A) c.5001T>A (p.Phe1667Leu) c.5547T>A (p.Phe1849Leu) c.5364T>A (p.Phe1788Leu) c.5085T>A (p.Phe1695Leu) c.4128T>A (p.Phe1376Leu) c.4119T>A (p.Phe1373Leu) | |
| 5 | g.37026264T>C | CA443905596 | NIPBL | c.5745T>C (p.Phe1915=) c.1-38314T>C (n.1-38314T>C) c.5001T>C (p.Phe1667=) c.5547T>C (p.Phe1849=) c.5364T>C (p.Phe1788=) c.5085T>C (p.Phe1695=) c.4128T>C (p.Phe1376=) c.4119T>C (p.Phe1373=) | dbSNP |
| 5 | g.37026264T>G | CA359492181 | NIPBL | c.5745T>G (p.Phe1915Leu) c.1-38314T>G (n.1-38314T>G) c.5001T>G (p.Phe1667Leu) c.5547T>G (p.Phe1849Leu) c.5364T>G (p.Phe1788Leu) c.5085T>G (p.Phe1695Leu) c.4128T>G (p.Phe1376Leu) c.4119T>G (p.Phe1373Leu) | |
| 5 | g.37026264T= | CA1539596223 | NIPBL | c.5745T= (p.Phe1915=) c.1-38314T= (n.1-38314T=) c.5001T= (p.Phe1667=) c.5547T= (p.Phe1849=) c.5364T= (p.Phe1788=) c.5085T= (p.Phe1695=) c.4128T= (p.Phe1376=) c.4119T= (p.Phe1373=) | |
| 5 | g.37026265A>C | CA359492182 | NIPBL | c.5746A>C (p.Thr1916Pro) c.1-38313A>C (n.1-38313A>C) c.5002A>C (p.Thr1668Pro) c.5548A>C (p.Thr1850Pro) c.5365A>C (p.Thr1789Pro) c.5086A>C (p.Thr1696Pro) c.4129A>C (p.Thr1377Pro) c.4120A>C (p.Thr1374Pro) | |
| 5 | g.37026265A>G | CA359492184 | NIPBL | c.5746A>G (p.Thr1916Ala) c.1-38313A>G (n.1-38313A>G) c.5002A>G (p.Thr1668Ala) c.5548A>G (p.Thr1850Ala) c.5365A>G (p.Thr1789Ala) c.5086A>G (p.Thr1696Ala) c.4129A>G (p.Thr1377Ala) c.4120A>G (p.Thr1374Ala) | |
| 5 | g.37026265A>T | CA359492185 | NIPBL | c.5746A>T (p.Thr1916Ser) c.1-38313A>T (n.1-38313A>T) c.5002A>T (p.Thr1668Ser) c.5548A>T (p.Thr1850Ser) c.5365A>T (p.Thr1789Ser) c.5086A>T (p.Thr1696Ser) c.4129A>T (p.Thr1377Ser) c.4120A>T (p.Thr1374Ser) | |
| 5 | g.37026266C>A | CA359492187 | NIPBL | c.5747C>A (p.Thr1916Asn) c.1-38312C>A (n.1-38312C>A) c.5003C>A (p.Thr1668Asn) c.5549C>A (p.Thr1850Asn) c.5366C>A (p.Thr1789Asn) c.5087C>A (p.Thr1696Asn) c.4130C>A (p.Thr1377Asn) c.4121C>A (p.Thr1374Asn) | |
| 5 | g.37026266C= | CA1539596231 | NIPBL | c.5747C= (p.Thr1916=) c.1-38312C= (n.1-38312C=) c.5003C= (p.Thr1668=) c.5549C= (p.Thr1850=) c.5366C= (p.Thr1789=) c.5087C= (p.Thr1696=) c.4130C= (p.Thr1377=) c.4121C= (p.Thr1374=) | |
| 5 | g.37026266C>G | CA359492190 | NIPBL | c.5747C>G (p.Thr1916Ser) c.1-38312C>G (n.1-38312C>G) c.5003C>G (p.Thr1668Ser) c.5549C>G (p.Thr1850Ser) c.5366C>G (p.Thr1789Ser) c.5087C>G (p.Thr1696Ser) c.4130C>G (p.Thr1377Ser) c.4121C>G (p.Thr1374Ser) | dbSNP gnomAD v4 |
| 5 | g.37026266C>T | CA359492189 | NIPBL | c.5747C>T (p.Thr1916Ile) c.1-38312C>T (n.1-38312C>T) c.5003C>T (p.Thr1668Ile) c.5549C>T (p.Thr1850Ile) c.5366C>T (p.Thr1789Ile) c.5087C>T (p.Thr1696Ile) c.4130C>T (p.Thr1377Ile) c.4121C>T (p.Thr1374Ile) | |
| 5 | g.37026267T>A | CA443905598 | NIPBL | c.5748T>A (p.Thr1916=) c.1-38311T>A (n.1-38311T>A) c.5004T>A (p.Thr1668=) c.5550T>A (p.Thr1850=) c.5367T>A (p.Thr1789=) c.5088T>A (p.Thr1696=) c.4131T>A (p.Thr1377=) c.4122T>A (p.Thr1374=) | |
| 5 | g.37026267T>C | CA3236840 | NIPBL | c.5748T>C (p.Thr1916=) c.1-38311T>C (n.1-38311T>C) c.5004T>C (p.Thr1668=) c.5550T>C (p.Thr1850=) c.5367T>C (p.Thr1789=) c.5088T>C (p.Thr1696=) c.4131T>C (p.Thr1377=) c.4122T>C (p.Thr1374=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37026267T>G | CA443905597 | NIPBL | c.5748T>G (p.Thr1916=) c.1-38311T>G (n.1-38311T>G) c.5004T>G (p.Thr1668=) c.5550T>G (p.Thr1850=) c.5367T>G (p.Thr1789=) c.5088T>G (p.Thr1696=) c.4131T>G (p.Thr1377=) c.4122T>G (p.Thr1374=) | |
| 5 | g.37026267T= | CA1539596238 | NIPBL | c.5748T= (p.Thr1916=) c.1-38311T= (n.1-38311T=) c.5004T= (p.Thr1668=) c.5550T= (p.Thr1850=) c.5367T= (p.Thr1789=) c.5088T= (p.Thr1696=) c.4131T= (p.Thr1377=) c.4122T= (p.Thr1374=) | |
| 5 | g.37026268C>A | CA359492192 | NIPBL | c.5749C>A (p.Pro1917Thr) c.1-38310C>A (n.1-38310C>A) c.5005C>A (p.Pro1669Thr) c.5551C>A (p.Pro1851Thr) c.5368C>A (p.Pro1790Thr) c.5089C>A (p.Pro1697Thr) c.4132C>A (p.Pro1378Thr) c.4123C>A (p.Pro1375Thr) | gnomAD v4 |
| 5 | g.37026268C>G | CA359492194 | NIPBL | c.5749C>G (p.Pro1917Ala) c.1-38310C>G (n.1-38310C>G) c.5005C>G (p.Pro1669Ala) c.5551C>G (p.Pro1851Ala) c.5368C>G (p.Pro1790Ala) c.5089C>G (p.Pro1697Ala) c.4132C>G (p.Pro1378Ala) c.4123C>G (p.Pro1375Ala) | |
| 5 | g.37026268C>T | CA359492196 | NIPBL | c.5749C>T (p.Pro1917Ser) c.1-38310C>T (n.1-38310C>T) c.5005C>T (p.Pro1669Ser) c.5551C>T (p.Pro1851Ser) c.5368C>T (p.Pro1790Ser) c.5089C>T (p.Pro1697Ser) c.4132C>T (p.Pro1378Ser) c.4123C>T (p.Pro1375Ser) | |
| 5 | g.37026269C>A | CA359492197 | NIPBL | c.5750C>A (p.Pro1917Gln) c.1-38309C>A (n.1-38309C>A) c.5006C>A (p.Pro1669Gln) c.5552C>A (p.Pro1851Gln) c.5369C>A (p.Pro1790Gln) c.5090C>A (p.Pro1697Gln) c.4133C>A (p.Pro1378Gln) c.4124C>A (p.Pro1375Gln) | |
| 5 | g.37026269C= | CA1539596241 | NIPBL | c.5750C= (p.Pro1917=) c.1-38309C= (n.1-38309C=) c.5006C= (p.Pro1669=) c.5552C= (p.Pro1851=) c.5369C= (p.Pro1790=) c.5090C= (p.Pro1697=) c.4133C= (p.Pro1378=) c.4124C= (p.Pro1375=) | |
| 5 | g.37026269C>G | CA359492200 | NIPBL | c.5750C>G (p.Pro1917Arg) c.1-38309C>G (n.1-38309C>G) c.5006C>G (p.Pro1669Arg) c.5552C>G (p.Pro1851Arg) c.5369C>G (p.Pro1790Arg) c.5090C>G (p.Pro1697Arg) c.4133C>G (p.Pro1378Arg) c.4124C>G (p.Pro1375Arg) | |
| 5 | g.37026269C>T | CA359492199 | NIPBL | c.5750C>T (p.Pro1917Leu) c.1-38309C>T (n.1-38309C>T) c.5006C>T (p.Pro1669Leu) c.5552C>T (p.Pro1851Leu) c.5369C>T (p.Pro1790Leu) c.5090C>T (p.Pro1697Leu) c.4133C>T (p.Pro1378Leu) c.4124C>T (p.Pro1375Leu) | dbSNP |
| 5 | g.37026270A>C | CA443905599 | NIPBL | c.5751A>C (p.Pro1917=) c.1-38308A>C (n.1-38308A>C) c.5007A>C (p.Pro1669=) c.5553A>C (p.Pro1851=) c.5370A>C (p.Pro1790=) c.5091A>C (p.Pro1697=) c.4134A>C (p.Pro1378=) c.4125A>C (p.Pro1375=) | |
| 5 | g.37026270A>G | CA443905600 | NIPBL | c.5751A>G (p.Pro1917=) c.1-38308A>G (n.1-38308A>G) c.5007A>G (p.Pro1669=) c.5553A>G (p.Pro1851=) c.5370A>G (p.Pro1790=) c.5091A>G (p.Pro1697=) c.4134A>G (p.Pro1378=) c.4125A>G (p.Pro1375=) | |
| 5 | g.37026270A>T | CA443905601 | NIPBL | c.5751A>T (p.Pro1917=) c.1-38308A>T (n.1-38308A>T) c.5007A>T (p.Pro1669=) c.5553A>T (p.Pro1851=) c.5370A>T (p.Pro1790=) c.5091A>T (p.Pro1697=) c.4134A>T (p.Pro1378=) c.4125A>T (p.Pro1375=) | |
| 5 | g.37026271A= | CA1539596249 | NIPBL | c.5752A= (p.Thr1918=) c.1-38307A= (n.1-38307A=) c.5008A= (p.Thr1670=) c.5554A= (p.Thr1852=) c.5371A= (p.Thr1791=) c.5092A= (p.Thr1698=) c.4135A= (p.Thr1379=) c.4126A= (p.Thr1376=) | |
| 5 | g.37026271A>C | CA359492201 | NIPBL | c.5752A>C (p.Thr1918Pro) c.1-38307A>C (n.1-38307A>C) c.5008A>C (p.Thr1670Pro) c.5554A>C (p.Thr1852Pro) c.5371A>C (p.Thr1791Pro) c.5092A>C (p.Thr1698Pro) c.4135A>C (p.Thr1379Pro) c.4126A>C (p.Thr1376Pro) | |
| 5 | g.37026271A>G | CA3236841 | NIPBL | c.5752A>G (p.Thr1918Ala) c.1-38307A>G (n.1-38307A>G) c.5008A>G (p.Thr1670Ala) c.5554A>G (p.Thr1852Ala) c.5371A>G (p.Thr1791Ala) c.5092A>G (p.Thr1698Ala) c.4135A>G (p.Thr1379Ala) c.4126A>G (p.Thr1376Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.37026271A>T | CA359492202 | NIPBL | c.5752A>T (p.Thr1918Ser) c.1-38307A>T (n.1-38307A>T) c.5008A>T (p.Thr1670Ser) c.5554A>T (p.Thr1852Ser) c.5371A>T (p.Thr1791Ser) c.5092A>T (p.Thr1698Ser) c.4135A>T (p.Thr1379Ser) c.4126A>T (p.Thr1376Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37026272C>A | CA359492204 | NIPBL | c.5753C>A (p.Thr1918Asn) c.1-38306C>A (n.1-38306C>A) c.5009C>A (p.Thr1670Asn) c.5555C>A (p.Thr1852Asn) c.5372C>A (p.Thr1791Asn) c.5093C>A (p.Thr1698Asn) c.4136C>A (p.Thr1379Asn) c.4127C>A (p.Thr1376Asn) | |
| 5 | g.37026272C>G | CA359492206 | NIPBL | c.5753C>G (p.Thr1918Ser) c.1-38306C>G (n.1-38306C>G) c.5009C>G (p.Thr1670Ser) c.5555C>G (p.Thr1852Ser) c.5372C>G (p.Thr1791Ser) c.5093C>G (p.Thr1698Ser) c.4136C>G (p.Thr1379Ser) c.4127C>G (p.Thr1376Ser) | |
| 5 | g.37026272C>T | CA359492207 | NIPBL | c.5753C>T (p.Thr1918Ile) c.1-38306C>T (n.1-38306C>T) c.5009C>T (p.Thr1670Ile) c.5555C>T (p.Thr1852Ile) c.5372C>T (p.Thr1791Ile) c.5093C>T (p.Thr1698Ile) c.4136C>T (p.Thr1379Ile) c.4127C>T (p.Thr1376Ile) | |
| 5 | g.37026273T>A | CA443905602 | NIPBL | c.5754T>A (p.Thr1918=) c.1-38305T>A (n.1-38305T>A) c.5010T>A (p.Thr1670=) c.5556T>A (p.Thr1852=) c.5373T>A (p.Thr1791=) c.5094T>A (p.Thr1698=) c.4137T>A (p.Thr1379=) c.4128T>A (p.Thr1376=) | |
| 5 | g.37026273T>C | CA443905603 | NIPBL | c.5754T>C (p.Thr1918=) c.1-38305T>C (n.1-38305T>C) c.5010T>C (p.Thr1670=) c.5556T>C (p.Thr1852=) c.5373T>C (p.Thr1791=) c.5094T>C (p.Thr1698=) c.4137T>C (p.Thr1379=) c.4128T>C (p.Thr1376=) | |
| 5 | g.37026273T>G | CA443905604 | NIPBL | c.5754T>G (p.Thr1918=) c.1-38305T>G (n.1-38305T>G) c.5010T>G (p.Thr1670=) c.5556T>G (p.Thr1852=) c.5373T>G (p.Thr1791=) c.5094T>G (p.Thr1698=) c.4137T>G (p.Thr1379=) c.4128T>G (p.Thr1376=) | |
| 5 | g.37026274C>A | CA359492209 | NIPBL | c.5755C>A (p.Pro1919Thr) c.1-38304C>A (n.1-38304C>A) c.5011C>A (p.Pro1671Thr) c.5557C>A (p.Pro1853Thr) c.5374C>A (p.Pro1792Thr) c.5095C>A (p.Pro1699Thr) c.4138C>A (p.Pro1380Thr) c.4129C>A (p.Pro1377Thr) | |
| 5 | g.37026274C= | CA1539596262 | NIPBL | c.5755C= (p.Pro1919=) c.1-38304C= (n.1-38304C=) c.5011C= (p.Pro1671=) c.5557C= (p.Pro1853=) c.5374C= (p.Pro1792=) c.5095C= (p.Pro1699=) c.4138C= (p.Pro1380=) c.4129C= (p.Pro1377=) | |
| 5 | g.37026274C>G | CA359492210 | NIPBL | c.5755C>G (p.Pro1919Ala) c.1-38304C>G (n.1-38304C>G) c.5011C>G (p.Pro1671Ala) c.5557C>G (p.Pro1853Ala) c.5374C>G (p.Pro1792Ala) c.5095C>G (p.Pro1699Ala) c.4138C>G (p.Pro1380Ala) c.4129C>G (p.Pro1377Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37026274C>T | CA359492211 | NIPBL | c.5755C>T (p.Pro1919Ser) c.1-38304C>T (n.1-38304C>T) c.5011C>T (p.Pro1671Ser) c.5557C>T (p.Pro1853Ser) c.5374C>T (p.Pro1792Ser) c.5095C>T (p.Pro1699Ser) c.4138C>T (p.Pro1380Ser) c.4129C>T (p.Pro1377Ser) | |
| 5 | g.37026275C>A | CA359492213 | NIPBL | c.5756C>A (p.Pro1919Gln) c.1-38303C>A (n.1-38303C>A) c.5012C>A (p.Pro1671Gln) c.5558C>A (p.Pro1853Gln) c.5375C>A (p.Pro1792Gln) c.5096C>A (p.Pro1699Gln) c.4139C>A (p.Pro1380Gln) c.4130C>A (p.Pro1377Gln) | dbSNP |
| 5 | g.37026275C= | CA1539596268 | NIPBL | c.5756C= (p.Pro1919=) c.1-38303C= (n.1-38303C=) c.5012C= (p.Pro1671=) c.5558C= (p.Pro1853=) c.5375C= (p.Pro1792=) c.5096C= (p.Pro1699=) c.4139C= (p.Pro1380=) c.4130C= (p.Pro1377=) | |
| 5 | g.37026275C>G | CA359492215 | NIPBL | c.5756C>G (p.Pro1919Arg) c.1-38303C>G (n.1-38303C>G) c.5012C>G (p.Pro1671Arg) c.5558C>G (p.Pro1853Arg) c.5375C>G (p.Pro1792Arg) c.5096C>G (p.Pro1699Arg) c.4139C>G (p.Pro1380Arg) c.4130C>G (p.Pro1377Arg) | |
| 5 | g.37026275C>T | CA359492217 | NIPBL | c.5756C>T (p.Pro1919Leu) c.1-38303C>T (n.1-38303C>T) c.5012C>T (p.Pro1671Leu) c.5558C>T (p.Pro1853Leu) c.5375C>T (p.Pro1792Leu) c.5096C>T (p.Pro1699Leu) c.4139C>T (p.Pro1380Leu) c.4130C>T (p.Pro1377Leu) | |
| 5 | g.37026276A>C | CA443905605 | NIPBL | c.5757A>C (p.Pro1919=) c.1-38302A>C (n.1-38302A>C) c.5013A>C (p.Pro1671=) c.5559A>C (p.Pro1853=) c.5376A>C (p.Pro1792=) c.5097A>C (p.Pro1699=) c.4140A>C (p.Pro1380=) c.4131A>C (p.Pro1377=) | |
| 5 | g.37026276A>G | CA443905606 | NIPBL | c.5757A>G (p.Pro1919=) c.1-38302A>G (n.1-38302A>G) c.5013A>G (p.Pro1671=) c.5559A>G (p.Pro1853=) c.5376A>G (p.Pro1792=) c.5097A>G (p.Pro1699=) c.4140A>G (p.Pro1380=) c.4131A>G (p.Pro1377=) | |
| 5 | g.37026276A>T | CA443905607 | NIPBL | c.5757A>T (p.Pro1919=) c.1-38302A>T (n.1-38302A>T) c.5013A>T (p.Pro1671=) c.5559A>T (p.Pro1853=) c.5376A>T (p.Pro1792=) c.5097A>T (p.Pro1699=) c.4140A>T (p.Pro1380=) c.4131A>T (p.Pro1377=) | |
| 5 | g.37026277C>A | CA359492220 | NIPBL | c.5758C>A (p.His1920Asn) c.1-38301C>A (n.1-38301C>A) c.5014C>A (p.His1672Asn) c.5560C>A (p.His1854Asn) c.5377C>A (p.His1793Asn) c.5098C>A (p.His1700Asn) c.4141C>A (p.His1381Asn) c.4132C>A (p.His1378Asn) | |
| 5 | g.37026277C>G | CA359492221 | NIPBL | c.5758C>G (p.His1920Asp) c.1-38301C>G (n.1-38301C>G) c.5014C>G (p.His1672Asp) c.5560C>G (p.His1854Asp) c.5377C>G (p.His1793Asp) c.5098C>G (p.His1700Asp) c.4141C>G (p.His1381Asp) c.4132C>G (p.His1378Asp) | |
| 5 | g.37026277C>T | CA359492219 | NIPBL | c.5758C>T (p.His1920Tyr) c.1-38301C>T (n.1-38301C>T) c.5014C>T (p.His1672Tyr) c.5560C>T (p.His1854Tyr) c.5377C>T (p.His1793Tyr) c.5098C>T (p.His1700Tyr) c.4141C>T (p.His1381Tyr) c.4132C>T (p.His1378Tyr) | gnomAD v4 |
| 5 | g.37026278A>C | CA359492222 | NIPBL | c.5759A>C (p.His1920Pro) c.1-38300A>C (n.1-38300A>C) c.5015A>C (p.His1672Pro) c.5561A>C (p.His1854Pro) c.5378A>C (p.His1793Pro) c.5099A>C (p.His1700Pro) c.4142A>C (p.His1381Pro) c.4133A>C (p.His1378Pro) | |
| 5 | g.37026278A>G | CA359492224 | NIPBL | c.5759A>G (p.His1920Arg) c.1-38300A>G (n.1-38300A>G) c.5015A>G (p.His1672Arg) c.5561A>G (p.His1854Arg) c.5378A>G (p.His1793Arg) c.5099A>G (p.His1700Arg) c.4142A>G (p.His1381Arg) c.4133A>G (p.His1378Arg) | |
| 5 | g.37026278A>T | CA359492223 | NIPBL | c.5759A>T (p.His1920Leu) c.1-38300A>T (n.1-38300A>T) c.5015A>T (p.His1672Leu) c.5561A>T (p.His1854Leu) c.5378A>T (p.His1793Leu) c.5099A>T (p.His1700Leu) c.4142A>T (p.His1381Leu) c.4133A>T (p.His1378Leu) | |
| 5 | g.37026279C>A | CA359492226 | NIPBL | c.5760C>A (p.His1920Gln) c.1-38299C>A (n.1-38299C>A) c.5016C>A (p.His1672Gln) c.5562C>A (p.His1854Gln) c.5379C>A (p.His1793Gln) c.5100C>A (p.His1700Gln) c.4143C>A (p.His1381Gln) c.4134C>A (p.His1378Gln) | |
| 5 | g.37026279C= | CA1539596290 | NIPBL | c.5760C= (p.His1920=) c.1-38299C= (n.1-38299C=) c.5016C= (p.His1672=) c.5562C= (p.His1854=) c.5379C= (p.His1793=) c.5100C= (p.His1700=) c.4143C= (p.His1381=) c.4134C= (p.His1378=) | |
| 5 | g.37026279C>G | CA359492228 | NIPBL | c.5760C>G (p.His1920Gln) c.1-38299C>G (n.1-38299C>G) c.5016C>G (p.His1672Gln) c.5562C>G (p.His1854Gln) c.5379C>G (p.His1793Gln) c.5100C>G (p.His1700Gln) c.4143C>G (p.His1381Gln) c.4134C>G (p.His1378Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37026279C>T | CA3236842 | NIPBL | c.5760C>T (p.His1920=) c.1-38299C>T (n.1-38299C>T) c.5016C>T (p.His1672=) c.5562C>T (p.His1854=) c.5379C>T (p.His1793=) c.5100C>T (p.His1700=) c.4143C>T (p.His1381=) c.4134C>T (p.His1378=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37026280A>C | CA359492230 | NIPBL | c.5761A>C (p.Asn1921His) c.1-38298A>C (n.1-38298A>C) c.5017A>C (p.Asn1673His) c.5563A>C (p.Asn1855His) c.5380A>C (p.Asn1794His) c.5101A>C (p.Asn1701His) c.4144A>C (p.Asn1382His) c.4135A>C (p.Asn1379His) | |
| 5 | g.37026280A>G | CA359492232 | NIPBL | c.5761A>G (p.Asn1921Asp) c.1-38298A>G (n.1-38298A>G) c.5017A>G (p.Asn1673Asp) c.5563A>G (p.Asn1855Asp) c.5380A>G (p.Asn1794Asp) c.5101A>G (p.Asn1701Asp) c.4144A>G (p.Asn1382Asp) c.4135A>G (p.Asn1379Asp) | |
| 5 | g.37026280A>T | CA359492231 | NIPBL | c.5761A>T (p.Asn1921Tyr) c.1-38298A>T (n.1-38298A>T) c.5017A>T (p.Asn1673Tyr) c.5563A>T (p.Asn1855Tyr) c.5380A>T (p.Asn1794Tyr) c.5101A>T (p.Asn1701Tyr) c.4144A>T (p.Asn1382Tyr) c.4135A>T (p.Asn1379Tyr) | |
| 5 | g.37026280_37026282del | CA2673576531 | NIPBL | c.5761_5763del (p.Asn1921del) c.1-38298_1-38296del (n.1-38298_1-38296del) c.5017_5019del (p.Asn1673del) c.5563_5565del (p.Asn1855del) c.5380_5382del (p.Asn1794del) c.5101_5103del (p.Asn1701del) c.4144_4146del (p.Asn1382del) c.4135_4137del (p.Asn1379del) | gnomAD v4 |