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.37020418G>A | CA3236682 | NIPBL | c.5011-41G>A (n.5011-41G>A) c.1-44160G>A (n.1-44160G>A) c.4267-41G>A (n.4267-41G>A) c.4813-41G>A (n.4813-41G>A) c.4630-41G>A (n.4630-41G>A) c.4351-41G>A (n.4351-41G>A) c.3394-41G>A (n.3394-41G>A) c.3385-41G>A (n.3385-41G>A) | dbSNP ExAC gnomAD v4 |
| 5 | g.37020418G= | CA1539619089 | NIPBL | c.5011-41G= (n.5011-41G=) c.1-44160G= (n.1-44160G=) c.4267-41G= (n.4267-41G=) c.4813-41G= (n.4813-41G=) c.4630-41G= (n.4630-41G=) c.4351-41G= (n.4351-41G=) c.3394-41G= (n.3394-41G=) c.3385-41G= (n.3385-41G=) | |
| 5 | g.37020419C>A | CA2673553195 | NIPBL | c.5011-40C>A (n.5011-40C>A) c.1-44159C>A (n.1-44159C>A) c.4267-40C>A (n.4267-40C>A) c.4813-40C>A (n.4813-40C>A) c.4630-40C>A (n.4630-40C>A) c.4351-40C>A (n.4351-40C>A) c.3394-40C>A (n.3394-40C>A) c.3385-40C>A (n.3385-40C>A) | gnomAD v4 |
| 5 | g.37020419C= | CA1539619090 | NIPBL | c.5011-40C= (n.5011-40C=) c.1-44159C= (n.1-44159C=) c.4267-40C= (n.4267-40C=) c.4813-40C= (n.4813-40C=) c.4630-40C= (n.4630-40C=) c.4351-40C= (n.4351-40C=) c.3394-40C= (n.3394-40C=) c.3385-40C= (n.3385-40C=) | |
| 5 | g.37020419C>T | CA3236683 | NIPBL | c.5011-40C>T (n.5011-40C>T) c.1-44159C>T (n.1-44159C>T) c.4267-40C>T (n.4267-40C>T) c.4813-40C>T (n.4813-40C>T) c.4630-40C>T (n.4630-40C>T) c.4351-40C>T (n.4351-40C>T) c.3394-40C>T (n.3394-40C>T) c.3385-40C>T (n.3385-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020419_37020424delinsCTAATT | CA1539619091 | NIPBL | c.5011-40_5011-35delinsCTAATT (n.5011-40_5011-35delinsCTAATT) c.1-44159_1-44154delinsCTAATT (n.1-44159_1-44154delinsCTAATT) c.4267-40_4267-35delinsCTAATT (n.4267-40_4267-35delinsCTAATT) c.4813-40_4813-35delinsCTAATT (n.4813-40_4813-35delinsCTAATT) c.4630-40_4630-35delinsCTAATT (n.4630-40_4630-35delinsCTAATT) c.4351-40_4351-35delinsCTAATT (n.4351-40_4351-35delinsCTAATT) c.3394-40_3394-35delinsCTAATT (n.3394-40_3394-35delinsCTAATT) c.3385-40_3385-35delinsCTAATT (n.3385-40_3385-35delinsCTAATT) | |
| 5 | g.37020420T>G | CA2673553199 | NIPBL | c.5011-39T>G (n.5011-39T>G) c.1-44158T>G (n.1-44158T>G) c.4267-39T>G (n.4267-39T>G) c.4813-39T>G (n.4813-39T>G) c.4630-39T>G (n.4630-39T>G) c.4351-39T>G (n.4351-39T>G) c.3394-39T>G (n.3394-39T>G) c.3385-39T>G (n.3385-39T>G) | gnomAD v4 |
| 5 | g.37020421_37020425del | CA559015795 | NIPBL | c.5011-38_5011-34del (n.5011-38_5011-34del) c.1-44157_1-44153del (n.1-44157_1-44153del) c.4267-38_4267-34del (n.4267-38_4267-34del) c.4813-38_4813-34del (n.4813-38_4813-34del) c.4630-38_4630-34del (n.4630-38_4630-34del) c.4351-38_4351-34del (n.4351-38_4351-34del) c.3394-38_3394-34del (n.3394-38_3394-34del) c.3385-38_3385-34del (n.3385-38_3385-34del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020421A= | CA1539619092 | NIPBL | c.5011-38A= (n.5011-38A=) c.1-44157A= (n.1-44157A=) c.4267-38A= (n.4267-38A=) c.4813-38A= (n.4813-38A=) c.4630-38A= (n.4630-38A=) c.4351-38A= (n.4351-38A=) c.3394-38A= (n.3394-38A=) c.3385-38A= (n.3385-38A=) | |
| 5 | g.37020421A>G | CA559015796 | NIPBL | c.5011-38A>G (n.5011-38A>G) c.1-44157A>G (n.1-44157A>G) c.4267-38A>G (n.4267-38A>G) c.4813-38A>G (n.4813-38A>G) c.4630-38A>G (n.4630-38A>G) c.4351-38A>G (n.4351-38A>G) c.3394-38A>G (n.3394-38A>G) c.3385-38A>G (n.3385-38A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020421A>T | CA2578289386 | NIPBL | c.5011-38A>T (n.5011-38A>T) c.1-44157A>T (n.1-44157A>T) c.4267-38A>T (n.4267-38A>T) c.4813-38A>T (n.4813-38A>T) c.4630-38A>T (n.4630-38A>T) c.4351-38A>T (n.4351-38A>T) c.3394-38A>T (n.3394-38A>T) c.3385-38A>T (n.3385-38A>T) | |
| 5 | g.37020423T>G | CA559015798 | NIPBL | c.5011-36T>G (n.5011-36T>G) c.1-44155T>G (n.1-44155T>G) c.4267-36T>G (n.4267-36T>G) c.4813-36T>G (n.4813-36T>G) c.4630-36T>G (n.4630-36T>G) c.4351-36T>G (n.4351-36T>G) c.3394-36T>G (n.3394-36T>G) c.3385-36T>G (n.3385-36T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020423T= | CA1539619093 | NIPBL | c.5011-36T= (n.5011-36T=) c.1-44155T= (n.1-44155T=) c.4267-36T= (n.4267-36T=) c.4813-36T= (n.4813-36T=) c.4630-36T= (n.4630-36T=) c.4351-36T= (n.4351-36T=) c.3394-36T= (n.3394-36T=) c.3385-36T= (n.3385-36T=) | |
| 5 | g.37020426C= | CA1539619094 | NIPBL | c.5011-33C= (n.5011-33C=) c.1-44152C= (n.1-44152C=) c.4267-33C= (n.4267-33C=) c.4813-33C= (n.4813-33C=) c.4630-33C= (n.4630-33C=) c.4351-33C= (n.4351-33C=) c.3394-33C= (n.3394-33C=) c.3385-33C= (n.3385-33C=) | |
| 5 | g.37020426C>T | CA3236684 | NIPBL | c.5011-33C>T (n.5011-33C>T) c.1-44152C>T (n.1-44152C>T) c.4267-33C>T (n.4267-33C>T) c.4813-33C>T (n.4813-33C>T) c.4630-33C>T (n.4630-33C>T) c.4351-33C>T (n.4351-33C>T) c.3394-33C>T (n.3394-33C>T) c.3385-33C>T (n.3385-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020427A= | CA1539619095 | NIPBL | c.5011-32A= (n.5011-32A=) c.1-44151A= (n.1-44151A=) c.4267-32A= (n.4267-32A=) c.4813-32A= (n.4813-32A=) c.4630-32A= (n.4630-32A=) c.4351-32A= (n.4351-32A=) c.3394-32A= (n.3394-32A=) c.3385-32A= (n.3385-32A=) | |
| 5 | g.37020427A>G | CA3236685 | NIPBL | c.5011-32A>G (n.5011-32A>G) c.1-44151A>G (n.1-44151A>G) c.4267-32A>G (n.4267-32A>G) c.4813-32A>G (n.4813-32A>G) c.4630-32A>G (n.4630-32A>G) c.4351-32A>G (n.4351-32A>G) c.3394-32A>G (n.3394-32A>G) c.3385-32A>G (n.3385-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020428T>A | CA1539619096 | NIPBL | c.5011-31T>A (n.5011-31T>A) c.1-44150T>A (n.1-44150T>A) c.4267-31T>A (n.4267-31T>A) c.4813-31T>A (n.4813-31T>A) c.4630-31T>A (n.4630-31T>A) c.4351-31T>A (n.4351-31T>A) c.3394-31T>A (n.3394-31T>A) c.3385-31T>A (n.3385-31T>A) | dbSNP |
| 5 | g.37020428T>C | CA117027864 | NIPBL | c.5011-31T>C (n.5011-31T>C) c.1-44150T>C (n.1-44150T>C) c.4267-31T>C (n.4267-31T>C) c.4813-31T>C (n.4813-31T>C) c.4630-31T>C (n.4630-31T>C) c.4351-31T>C (n.4351-31T>C) c.3394-31T>C (n.3394-31T>C) c.3385-31T>C (n.3385-31T>C) | dbSNP |
| 5 | g.37020428T= | CA1539619097 | NIPBL | c.5011-31T= (n.5011-31T=) c.1-44150T= (n.1-44150T=) c.4267-31T= (n.4267-31T=) c.4813-31T= (n.4813-31T=) c.4630-31T= (n.4630-31T=) c.4351-31T= (n.4351-31T=) c.3394-31T= (n.3394-31T=) c.3385-31T= (n.3385-31T=) | |
| 5 | g.37020429C>A | CA2578289390 | NIPBL | c.5011-30C>A (n.5011-30C>A) c.1-44149C>A (n.1-44149C>A) c.4267-30C>A (n.4267-30C>A) c.4813-30C>A (n.4813-30C>A) c.4630-30C>A (n.4630-30C>A) c.4351-30C>A (n.4351-30C>A) c.3394-30C>A (n.3394-30C>A) c.3385-30C>A (n.3385-30C>A) | |
| 5 | g.37020430A>C | CA2578289392 | NIPBL | c.5011-29A>C (n.5011-29A>C) c.1-44148A>C (n.1-44148A>C) c.4267-29A>C (n.4267-29A>C) c.4813-29A>C (n.4813-29A>C) c.4630-29A>C (n.4630-29A>C) c.4351-29A>C (n.4351-29A>C) c.3394-29A>C (n.3394-29A>C) c.3385-29A>C (n.3385-29A>C) | |
| 5 | g.37020430A>G | CA2673553202 | NIPBL | c.5011-29A>G (n.5011-29A>G) c.1-44148A>G (n.1-44148A>G) c.4267-29A>G (n.4267-29A>G) c.4813-29A>G (n.4813-29A>G) c.4630-29A>G (n.4630-29A>G) c.4351-29A>G (n.4351-29A>G) c.3394-29A>G (n.3394-29A>G) c.3385-29A>G (n.3385-29A>G) | gnomAD v4 |
| 5 | g.37020431_37020432delinsAG | CA1539619098 | NIPBL | c.5011-28_5011-27delinsAG (n.5011-28_5011-27delinsAG) c.1-44147_1-44146delinsAG (n.1-44147_1-44146delinsAG) c.4267-28_4267-27delinsAG (n.4267-28_4267-27delinsAG) c.4813-28_4813-27delinsAG (n.4813-28_4813-27delinsAG) c.4630-28_4630-27delinsAG (n.4630-28_4630-27delinsAG) c.4351-28_4351-27delinsAG (n.4351-28_4351-27delinsAG) c.3394-28_3394-27delinsAG (n.3394-28_3394-27delinsAG) c.3385-28_3385-27delinsAG (n.3385-28_3385-27delinsAG) | |
| 5 | g.37020432del | CA1539619099 | NIPBL | c.5011-27del (n.5011-27del) c.1-44146del (n.1-44146del) c.4267-27del (n.4267-27del) c.4813-27del (n.4813-27del) c.4630-27del (n.4630-27del) c.4351-27del (n.4351-27del) c.3394-27del (n.3394-27del) c.3385-27del (n.3385-27del) | dbSNP |
| 5 | g.37020433C>A | CA2673553203 | NIPBL | c.5011-26C>A (n.5011-26C>A) c.1-44145C>A (n.1-44145C>A) c.4267-26C>A (n.4267-26C>A) c.4813-26C>A (n.4813-26C>A) c.4630-26C>A (n.4630-26C>A) c.4351-26C>A (n.4351-26C>A) c.3394-26C>A (n.3394-26C>A) c.3385-26C>A (n.3385-26C>A) | gnomAD v4 |
| 5 | g.37020433C= | CA1539619100 | NIPBL | c.5011-26C= (n.5011-26C=) c.1-44145C= (n.1-44145C=) c.4267-26C= (n.4267-26C=) c.4813-26C= (n.4813-26C=) c.4630-26C= (n.4630-26C=) c.4351-26C= (n.4351-26C=) c.3394-26C= (n.3394-26C=) c.3385-26C= (n.3385-26C=) | |
| 5 | g.37020433C>T | CA810287771 | NIPBL | c.5011-26C>T (n.5011-26C>T) c.1-44145C>T (n.1-44145C>T) c.4267-26C>T (n.4267-26C>T) c.4813-26C>T (n.4813-26C>T) c.4630-26C>T (n.4630-26C>T) c.4351-26C>T (n.4351-26C>T) c.3394-26C>T (n.3394-26C>T) c.3385-26C>T (n.3385-26C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020434T>A | CA2673553204 | NIPBL | c.5011-25T>A (n.5011-25T>A) c.1-44144T>A (n.1-44144T>A) c.4267-25T>A (n.4267-25T>A) c.4813-25T>A (n.4813-25T>A) c.4630-25T>A (n.4630-25T>A) c.4351-25T>A (n.4351-25T>A) c.3394-25T>A (n.3394-25T>A) c.3385-25T>A (n.3385-25T>A) | gnomAD v4 |
| 5 | g.37020434T>C | CA559015804 | NIPBL | c.5011-25T>C (n.5011-25T>C) c.1-44144T>C (n.1-44144T>C) c.4267-25T>C (n.4267-25T>C) c.4813-25T>C (n.4813-25T>C) c.4630-25T>C (n.4630-25T>C) c.4351-25T>C (n.4351-25T>C) c.3394-25T>C (n.3394-25T>C) c.3385-25T>C (n.3385-25T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020434T= | CA1539619101 | NIPBL | c.5011-25T= (n.5011-25T=) c.1-44144T= (n.1-44144T=) c.4267-25T= (n.4267-25T=) c.4813-25T= (n.4813-25T=) c.4630-25T= (n.4630-25T=) c.4351-25T= (n.4351-25T=) c.3394-25T= (n.3394-25T=) c.3385-25T= (n.3385-25T=) | |
| 5 | g.37020435C>T | CA2673553205 | NIPBL | c.5011-24C>T (n.5011-24C>T) c.1-44143C>T (n.1-44143C>T) c.4267-24C>T (n.4267-24C>T) c.4813-24C>T (n.4813-24C>T) c.4630-24C>T (n.4630-24C>T) c.4351-24C>T (n.4351-24C>T) c.3394-24C>T (n.3394-24C>T) c.3385-24C>T (n.3385-24C>T) | gnomAD v4 |
| 5 | g.37020437A= | CA1539619102 | NIPBL | c.5011-22A= (n.5011-22A=) c.1-44141A= (n.1-44141A=) c.4267-22A= (n.4267-22A=) c.4813-22A= (n.4813-22A=) c.4630-22A= (n.4630-22A=) c.4351-22A= (n.4351-22A=) c.3394-22A= (n.3394-22A=) c.3385-22A= (n.3385-22A=) | |
| 5 | g.37020437A>G | CA559015806 | NIPBL | c.5011-22A>G (n.5011-22A>G) c.1-44141A>G (n.1-44141A>G) c.4267-22A>G (n.4267-22A>G) c.4813-22A>G (n.4813-22A>G) c.4630-22A>G (n.4630-22A>G) c.4351-22A>G (n.4351-22A>G) c.3394-22A>G (n.3394-22A>G) c.3385-22A>G (n.3385-22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020437A>T | CA2673553206 | NIPBL | c.5011-22A>T (n.5011-22A>T) c.1-44141A>T (n.1-44141A>T) c.4267-22A>T (n.4267-22A>T) c.4813-22A>T (n.4813-22A>T) c.4630-22A>T (n.4630-22A>T) c.4351-22A>T (n.4351-22A>T) c.3394-22A>T (n.3394-22A>T) c.3385-22A>T (n.3385-22A>T) | gnomAD v4 |
| 5 | g.37020437_37020441delinsAGTCT | CA1539619103 | NIPBL | c.5011-22_5011-18delinsAGTCT (n.5011-22_5011-18delinsAGTCT) c.1-44141_1-44137delinsAGTCT (n.1-44141_1-44137delinsAGTCT) c.4267-22_4267-18delinsAGTCT (n.4267-22_4267-18delinsAGTCT) c.4813-22_4813-18delinsAGTCT (n.4813-22_4813-18delinsAGTCT) c.4630-22_4630-18delinsAGTCT (n.4630-22_4630-18delinsAGTCT) c.4351-22_4351-18delinsAGTCT (n.4351-22_4351-18delinsAGTCT) c.3394-22_3394-18delinsAGTCT (n.3394-22_3394-18delinsAGTCT) c.3385-22_3385-18delinsAGTCT (n.3385-22_3385-18delinsAGTCT) | |
| 5 | g.37020438G>A | CA559015810 | NIPBL | c.5011-21G>A (n.5011-21G>A) c.1-44140G>A (n.1-44140G>A) c.4267-21G>A (n.4267-21G>A) c.4813-21G>A (n.4813-21G>A) c.4630-21G>A (n.4630-21G>A) c.4351-21G>A (n.4351-21G>A) c.3394-21G>A (n.3394-21G>A) c.3385-21G>A (n.3385-21G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020438G= | CA1539619104 | NIPBL | c.5011-21G= (n.5011-21G=) c.1-44140G= (n.1-44140G=) c.4267-21G= (n.4267-21G=) c.4813-21G= (n.4813-21G=) c.4630-21G= (n.4630-21G=) c.4351-21G= (n.4351-21G=) c.3394-21G= (n.3394-21G=) c.3385-21G= (n.3385-21G=) | |
| 5 | g.37020442_37020445del | CA559015808 | NIPBL | c.5011-17_5011-14del (n.5011-17_5011-14del) c.1-44136_1-44133del (n.1-44136_1-44133del) c.4267-17_4267-14del (n.4267-17_4267-14del) c.4813-17_4813-14del (n.4813-17_4813-14del) c.4630-17_4630-14del (n.4630-17_4630-14del) c.4351-17_4351-14del (n.4351-17_4351-14del) c.3394-17_3394-14del (n.3394-17_3394-14del) c.3385-17_3385-14del (n.3385-17_3385-14del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020439T>A | CA2673553211 | NIPBL | c.5011-20T>A (n.5011-20T>A) c.1-44139T>A (n.1-44139T>A) c.4267-20T>A (n.4267-20T>A) c.4813-20T>A (n.4813-20T>A) c.4630-20T>A (n.4630-20T>A) c.4351-20T>A (n.4351-20T>A) c.3394-20T>A (n.3394-20T>A) c.3385-20T>A (n.3385-20T>A) | gnomAD v4 |
| 5 | g.37020440C>A | CA2673553213 | NIPBL | c.5011-19C>A (n.5011-19C>A) c.1-44138C>A (n.1-44138C>A) c.4267-19C>A (n.4267-19C>A) c.4813-19C>A (n.4813-19C>A) c.4630-19C>A (n.4630-19C>A) c.4351-19C>A (n.4351-19C>A) c.3394-19C>A (n.3394-19C>A) c.3385-19C>A (n.3385-19C>A) | gnomAD v4 |
| 5 | g.37020440C= | CA1539619105 | NIPBL | c.5011-19C= (n.5011-19C=) c.1-44138C= (n.1-44138C=) c.4267-19C= (n.4267-19C=) c.4813-19C= (n.4813-19C=) c.4630-19C= (n.4630-19C=) c.4351-19C= (n.4351-19C=) c.3394-19C= (n.3394-19C=) c.3385-19C= (n.3385-19C=) | |
| 5 | g.37020440C>G | CA3236686 | NIPBL | c.5011-19C>G (n.5011-19C>G) c.1-44138C>G (n.1-44138C>G) c.4267-19C>G (n.4267-19C>G) c.4813-19C>G (n.4813-19C>G) c.4630-19C>G (n.4630-19C>G) c.4351-19C>G (n.4351-19C>G) c.3394-19C>G (n.3394-19C>G) c.3385-19C>G (n.3385-19C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020442G>A | CA2578289397 | NIPBL | c.5011-17G>A (n.5011-17G>A) c.1-44136G>A (n.1-44136G>A) c.4267-17G>A (n.4267-17G>A) c.4813-17G>A (n.4813-17G>A) c.4630-17G>A (n.4630-17G>A) c.4351-17G>A (n.4351-17G>A) c.3394-17G>A (n.3394-17G>A) c.3385-17G>A (n.3385-17G>A) | |
| 5 | g.37020443T>A | CA2673553215 | NIPBL | c.5011-16T>A (n.5011-16T>A) c.1-44135T>A (n.1-44135T>A) c.4267-16T>A (n.4267-16T>A) c.4813-16T>A (n.4813-16T>A) c.4630-16T>A (n.4630-16T>A) c.4351-16T>A (n.4351-16T>A) c.3394-16T>A (n.3394-16T>A) c.3385-16T>A (n.3385-16T>A) | gnomAD v4 |
| 5 | g.37020443T>C | CA649810862 | NIPBL | c.5011-16T>C (n.5011-16T>C) c.1-44135T>C (n.1-44135T>C) c.4267-16T>C (n.4267-16T>C) c.4813-16T>C (n.4813-16T>C) c.4630-16T>C (n.4630-16T>C) c.4351-16T>C (n.4351-16T>C) c.3394-16T>C (n.3394-16T>C) c.3385-16T>C (n.3385-16T>C) | gnomAD v4 COSMIC |
| 5 | g.37020443T>G | CA1075105861 | NIPBL | c.5011-16T>G (n.5011-16T>G) c.1-44135T>G (n.1-44135T>G) c.4267-16T>G (n.4267-16T>G) c.4813-16T>G (n.4813-16T>G) c.4630-16T>G (n.4630-16T>G) c.4351-16T>G (n.4351-16T>G) c.3394-16T>G (n.3394-16T>G) c.3385-16T>G (n.3385-16T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020443T= | CA1539619106 | NIPBL | c.5011-16T= (n.5011-16T=) c.1-44135T= (n.1-44135T=) c.4267-16T= (n.4267-16T=) c.4813-16T= (n.4813-16T=) c.4630-16T= (n.4630-16T=) c.4351-16T= (n.4351-16T=) c.3394-16T= (n.3394-16T=) c.3385-16T= (n.3385-16T=) | |
| 5 | g.37020444C>A | CA2578289399 | NIPBL | c.5011-15C>A (n.5011-15C>A) c.1-44134C>A (n.1-44134C>A) c.4267-15C>A (n.4267-15C>A) c.4813-15C>A (n.4813-15C>A) c.4630-15C>A (n.4630-15C>A) c.4351-15C>A (n.4351-15C>A) c.3394-15C>A (n.3394-15C>A) c.3385-15C>A (n.3385-15C>A) | gnomAD v4 |
| 5 | g.37020445T>C | CA3236687 | NIPBL | c.5011-14T>C (n.5011-14T>C) c.1-44133T>C (n.1-44133T>C) c.4267-14T>C (n.4267-14T>C) c.4813-14T>C (n.4813-14T>C) c.4630-14T>C (n.4630-14T>C) c.4351-14T>C (n.4351-14T>C) c.3394-14T>C (n.3394-14T>C) c.3385-14T>C (n.3385-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020445T>G | CA2578289400 | NIPBL | c.5011-14T>G (n.5011-14T>G) c.1-44133T>G (n.1-44133T>G) c.4267-14T>G (n.4267-14T>G) c.4813-14T>G (n.4813-14T>G) c.4630-14T>G (n.4630-14T>G) c.4351-14T>G (n.4351-14T>G) c.3394-14T>G (n.3394-14T>G) c.3385-14T>G (n.3385-14T>G) | |
| 5 | g.37020445T= | CA1539619107 | NIPBL | c.5011-14T= (n.5011-14T=) c.1-44133T= (n.1-44133T=) c.4267-14T= (n.4267-14T=) c.4813-14T= (n.4813-14T=) c.4630-14T= (n.4630-14T=) c.4351-14T= (n.4351-14T=) c.3394-14T= (n.3394-14T=) c.3385-14T= (n.3385-14T=) | |
| 5 | g.37020446A= | CA1539619108 | NIPBL | c.5011-13A= (n.5011-13A=) c.1-44132A= (n.1-44132A=) c.4267-13A= (n.4267-13A=) c.4813-13A= (n.4813-13A=) c.4630-13A= (n.4630-13A=) c.4351-13A= (n.4351-13A=) c.3394-13A= (n.3394-13A=) c.3385-13A= (n.3385-13A=) | |
| 5 | g.37020446A>C | CA2673553223 | NIPBL | c.5011-13A>C (n.5011-13A>C) c.1-44132A>C (n.1-44132A>C) c.4267-13A>C (n.4267-13A>C) c.4813-13A>C (n.4813-13A>C) c.4630-13A>C (n.4630-13A>C) c.4351-13A>C (n.4351-13A>C) c.3394-13A>C (n.3394-13A>C) c.3385-13A>C (n.3385-13A>C) | gnomAD v4 |
| 5 | g.37020446A>G | CA3236688 | NIPBL | c.5011-13A>G (n.5011-13A>G) c.1-44132A>G (n.1-44132A>G) c.4267-13A>G (n.4267-13A>G) c.4813-13A>G (n.4813-13A>G) c.4630-13A>G (n.4630-13A>G) c.4351-13A>G (n.4351-13A>G) c.3394-13A>G (n.3394-13A>G) c.3385-13A>G (n.3385-13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020448T>C | CA1075105864 | NIPBL | c.5011-11T>C (n.5011-11T>C) c.1-44130T>C (n.1-44130T>C) c.4267-11T>C (n.4267-11T>C) c.4813-11T>C (n.4813-11T>C) c.4630-11T>C (n.4630-11T>C) c.4351-11T>C (n.4351-11T>C) c.3394-11T>C (n.3394-11T>C) c.3385-11T>C (n.3385-11T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020448T= | CA1539619109 | NIPBL | c.5011-11T= (n.5011-11T=) c.1-44130T= (n.1-44130T=) c.4267-11T= (n.4267-11T=) c.4813-11T= (n.4813-11T=) c.4630-11T= (n.4630-11T=) c.4351-11T= (n.4351-11T=) c.3394-11T= (n.3394-11T=) c.3385-11T= (n.3385-11T=) | |
| 5 | g.37020451C>A | CA117027870 | NIPBL | c.5011-8C>A (n.5011-8C>A) c.1-44127C>A (n.1-44127C>A) c.4267-8C>A (n.4267-8C>A) c.4813-8C>A (n.4813-8C>A) c.4630-8C>A (n.4630-8C>A) c.4351-8C>A (n.4351-8C>A) c.3394-8C>A (n.3394-8C>A) c.3385-8C>A (n.3385-8C>A) | dbSNP gnomAD v4 |
| 5 | g.37020451C= | CA1539619110 | NIPBL | c.5011-8C= (n.5011-8C=) c.1-44127C= (n.1-44127C=) c.4267-8C= (n.4267-8C=) c.4813-8C= (n.4813-8C=) c.4630-8C= (n.4630-8C=) c.4351-8C= (n.4351-8C=) c.3394-8C= (n.3394-8C=) c.3385-8C= (n.3385-8C=) | |
| 5 | g.37020451C>T | CA3236689 | NIPBL | c.5011-8C>T (n.5011-8C>T) c.1-44127C>T (n.1-44127C>T) c.4267-8C>T (n.4267-8C>T) c.4813-8C>T (n.4813-8C>T) c.4630-8C>T (n.4630-8C>T) c.4351-8C>T (n.4351-8C>T) c.3394-8C>T (n.3394-8C>T) c.3385-8C>T (n.3385-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020454T>C | CA2673553224 | NIPBL | c.5011-5T>C (n.5011-5T>C) c.1-44124T>C (n.1-44124T>C) c.4267-5T>C (n.4267-5T>C) c.4813-5T>C (n.4813-5T>C) c.4630-5T>C (n.4630-5T>C) c.4351-5T>C (n.4351-5T>C) c.3394-5T>C (n.3394-5T>C) c.3385-5T>C (n.3385-5T>C) | gnomAD v4 |
| 5 | g.37020454_37020455del | CA2578289403 | NIPBL | c.5011-5_5011-4del (n.5011-5_5011-4del) c.1-44124_1-44123del (n.1-44124_1-44123del) c.4267-5_4267-4del (n.4267-5_4267-4del) c.4813-5_4813-4del (n.4813-5_4813-4del) c.4630-5_4630-4del (n.4630-5_4630-4del) c.4351-5_4351-4del (n.4351-5_4351-4del) c.3394-5_3394-4del (n.3394-5_3394-4del) c.3385-5_3385-4del (n.3385-5_3385-4del) | |
| 5 | g.37020455C= | CA1539619111 | NIPBL | c.5011-4C= (n.5011-4C=) c.1-44123C= (n.1-44123C=) c.4267-4C= (n.4267-4C=) c.4813-4C= (n.4813-4C=) c.4630-4C= (n.4630-4C=) c.4351-4C= (n.4351-4C=) c.3394-4C= (n.3394-4C=) c.3385-4C= (n.3385-4C=) | |
| 5 | g.37020455C>G | CA3236690 | NIPBL | c.5011-4C>G (n.5011-4C>G) c.1-44123C>G (n.1-44123C>G) c.4267-4C>G (n.4267-4C>G) c.4813-4C>G (n.4813-4C>G) c.4630-4C>G (n.4630-4C>G) c.4351-4C>G (n.4351-4C>G) c.3394-4C>G (n.3394-4C>G) c.3385-4C>G (n.3385-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020457A>C | CA359486199 | NIPBL | c.5011-2A>C (n.5011-2A>C) c.1-44121A>C (n.1-44121A>C) c.4267-2A>C (n.4267-2A>C) c.4813-2A>C (n.4813-2A>C) c.4630-2A>C (n.4630-2A>C) c.4351-2A>C (n.4351-2A>C) c.3394-2A>C (n.3394-2A>C) c.3385-2A>C (n.3385-2A>C) | |
| 5 | g.37020457A>G | CA359486203 | NIPBL | c.5011-2A>G (n.5011-2A>G) c.1-44121A>G (n.1-44121A>G) c.4267-2A>G (n.4267-2A>G) c.4813-2A>G (n.4813-2A>G) c.4630-2A>G (n.4630-2A>G) c.4351-2A>G (n.4351-2A>G) c.3394-2A>G (n.3394-2A>G) c.3385-2A>G (n.3385-2A>G) | |
| 5 | g.37020457A>T | CA359486204 | NIPBL | c.5011-2A>T (n.5011-2A>T) c.1-44121A>T (n.1-44121A>T) c.4267-2A>T (n.4267-2A>T) c.4813-2A>T (n.4813-2A>T) c.4630-2A>T (n.4630-2A>T) c.4351-2A>T (n.4351-2A>T) c.3394-2A>T (n.3394-2A>T) c.3385-2A>T (n.3385-2A>T) | |
| 5 | g.37020458G>A | CA359486207 | NIPBL | c.5011-1G>A (n.5011-1G>A) c.1-44120G>A (n.1-44120G>A) c.4267-1G>A (n.4267-1G>A) c.4813-1G>A (n.4813-1G>A) c.4630-1G>A (n.4630-1G>A) c.4351-1G>A (n.4351-1G>A) c.3394-1G>A (n.3394-1G>A) c.3385-1G>A (n.3385-1G>A) | |
| 5 | g.37020458G>C | CA359486210 | NIPBL | c.5011-1G>C (n.5011-1G>C) c.1-44120G>C (n.1-44120G>C) c.4267-1G>C (n.4267-1G>C) c.4813-1G>C (n.4813-1G>C) c.4630-1G>C (n.4630-1G>C) c.4351-1G>C (n.4351-1G>C) c.3394-1G>C (n.3394-1G>C) c.3385-1G>C (n.3385-1G>C) | ClinVar dbSNP |
| 5 | g.37020458G= | CA1539619113 | NIPBL | c.5011-1G= (n.5011-1G=) c.1-44120G= (n.1-44120G=) c.4267-1G= (n.4267-1G=) c.4813-1G= (n.4813-1G=) c.4630-1G= (n.4630-1G=) c.4351-1G= (n.4351-1G=) c.3394-1G= (n.3394-1G=) c.3385-1G= (n.3385-1G=) | |
| 5 | g.37020458G>T | CA359486211 | NIPBL | c.5011-1G>T (n.5011-1G>T) c.1-44120G>T (n.1-44120G>T) c.4267-1G>T (n.4267-1G>T) c.4813-1G>T (n.4813-1G>T) c.4630-1G>T (n.4630-1G>T) c.4351-1G>T (n.4351-1G>T) c.3394-1G>T (n.3394-1G>T) c.3385-1G>T (n.3385-1G>T) | COSMIC COSMIC |
| 5 | g.37020459T>A | CA359486222 | NIPBL | c.5011T>A (p.Phe1671Ile) c.1-44119T>A (n.1-44119T>A) c.4267T>A (p.Phe1423Ile) c.4813T>A (p.Phe1605Ile) c.4630T>A (p.Phe1544Ile) c.4351T>A (p.Phe1451Ile) c.3394T>A (p.Phe1132Ile) c.3385T>A (p.Phe1129Ile) | |
| 5 | g.37020459T>C | CA359486214 | NIPBL | c.5011T>C (p.Phe1671Leu) c.1-44119T>C (n.1-44119T>C) c.4267T>C (p.Phe1423Leu) c.4813T>C (p.Phe1605Leu) c.4630T>C (p.Phe1544Leu) c.4351T>C (p.Phe1451Leu) c.3394T>C (p.Phe1132Leu) c.3385T>C (p.Phe1129Leu) | |
| 5 | g.37020459T>G | CA359486217 | NIPBL | c.5011T>G (p.Phe1671Val) c.1-44119T>G (n.1-44119T>G) c.4267T>G (p.Phe1423Val) c.4813T>G (p.Phe1605Val) c.4630T>G (p.Phe1544Val) c.4351T>G (p.Phe1451Val) c.3394T>G (p.Phe1132Val) c.3385T>G (p.Phe1129Val) | |
| 5 | g.37020460T>A | CA359486225 | NIPBL | c.5012T>A (p.Phe1671Tyr) c.1-44118T>A (n.1-44118T>A) c.4268T>A (p.Phe1423Tyr) c.4814T>A (p.Phe1605Tyr) c.4631T>A (p.Phe1544Tyr) c.4352T>A (p.Phe1451Tyr) c.3395T>A (p.Phe1132Tyr) c.3386T>A (p.Phe1129Tyr) | |
| 5 | g.37020460T>C | CA359486226 | NIPBL | c.5012T>C (p.Phe1671Ser) c.1-44118T>C (n.1-44118T>C) c.4268T>C (p.Phe1423Ser) c.4814T>C (p.Phe1605Ser) c.4631T>C (p.Phe1544Ser) c.4352T>C (p.Phe1451Ser) c.3395T>C (p.Phe1132Ser) c.3386T>C (p.Phe1129Ser) | dbSNP |
| 5 | g.37020460T>G | CA359486230 | NIPBL | c.5012T>G (p.Phe1671Cys) c.1-44118T>G (n.1-44118T>G) c.4268T>G (p.Phe1423Cys) c.4814T>G (p.Phe1605Cys) c.4631T>G (p.Phe1544Cys) c.4352T>G (p.Phe1451Cys) c.3395T>G (p.Phe1132Cys) c.3386T>G (p.Phe1129Cys) | |
| 5 | g.37020460T= | CA1539619115 | NIPBL | c.5012T= (p.Phe1671=) c.1-44118T= (n.1-44118T=) c.4268T= (p.Phe1423=) c.4814T= (p.Phe1605=) c.4631T= (p.Phe1544=) c.4352T= (p.Phe1451=) c.3395T= (p.Phe1132=) c.3386T= (p.Phe1129=) | |
| 5 | g.37020461T>A | CA359486233 | NIPBL | c.5013T>A (p.Phe1671Leu) c.1-44117T>A (n.1-44117T>A) c.4269T>A (p.Phe1423Leu) c.4815T>A (p.Phe1605Leu) c.4632T>A (p.Phe1544Leu) c.4353T>A (p.Phe1451Leu) c.3396T>A (p.Phe1132Leu) c.3387T>A (p.Phe1129Leu) | |
| 5 | g.37020461T>C | CA443904877 | NIPBL | c.5013T>C (p.Phe1671=) c.1-44117T>C (n.1-44117T>C) c.4269T>C (p.Phe1423=) c.4815T>C (p.Phe1605=) c.4632T>C (p.Phe1544=) c.4353T>C (p.Phe1451=) c.3396T>C (p.Phe1132=) c.3387T>C (p.Phe1129=) | |
| 5 | g.37020461T>G | CA359486235 | NIPBL | c.5013T>G (p.Phe1671Leu) c.1-44117T>G (n.1-44117T>G) c.4269T>G (p.Phe1423Leu) c.4815T>G (p.Phe1605Leu) c.4632T>G (p.Phe1544Leu) c.4353T>G (p.Phe1451Leu) c.3396T>G (p.Phe1132Leu) c.3387T>G (p.Phe1129Leu) | |
| 5 | g.37020462T>A | CA359486237 | NIPBL | c.5014T>A (p.Ser1672Thr) c.1-44116T>A (n.1-44116T>A) c.4270T>A (p.Ser1424Thr) c.4816T>A (p.Ser1606Thr) c.4633T>A (p.Ser1545Thr) c.4354T>A (p.Ser1452Thr) c.3397T>A (p.Ser1133Thr) c.3388T>A (p.Ser1130Thr) | |
| 5 | g.37020462T>C | CA359486242 | NIPBL | c.5014T>C (p.Ser1672Pro) c.1-44116T>C (n.1-44116T>C) c.4270T>C (p.Ser1424Pro) c.4816T>C (p.Ser1606Pro) c.4633T>C (p.Ser1545Pro) c.4354T>C (p.Ser1452Pro) c.3397T>C (p.Ser1133Pro) c.3388T>C (p.Ser1130Pro) | |
| 5 | g.37020462T>G | CA359486239 | NIPBL | c.5014T>G (p.Ser1672Ala) c.1-44116T>G (n.1-44116T>G) c.4270T>G (p.Ser1424Ala) c.4816T>G (p.Ser1606Ala) c.4633T>G (p.Ser1545Ala) c.4354T>G (p.Ser1452Ala) c.3397T>G (p.Ser1133Ala) c.3388T>G (p.Ser1130Ala) | |
| 5 | g.37020463C>A | CA359486243 | NIPBL | c.5015C>A (p.Ser1672Tyr) c.1-44115C>A (n.1-44115C>A) c.4271C>A (p.Ser1424Tyr) c.4817C>A (p.Ser1606Tyr) c.4634C>A (p.Ser1545Tyr) c.4355C>A (p.Ser1452Tyr) c.3398C>A (p.Ser1133Tyr) c.3389C>A (p.Ser1130Tyr) | |
| 5 | g.37020463C>G | CA359486246 | NIPBL | c.5015C>G (p.Ser1672Cys) c.1-44115C>G (n.1-44115C>G) c.4271C>G (p.Ser1424Cys) c.4817C>G (p.Ser1606Cys) c.4634C>G (p.Ser1545Cys) c.4355C>G (p.Ser1452Cys) c.3398C>G (p.Ser1133Cys) c.3389C>G (p.Ser1130Cys) | |
| 5 | g.37020463C>T | CA359486247 | NIPBL | c.5015C>T (p.Ser1672Phe) c.1-44115C>T (n.1-44115C>T) c.4271C>T (p.Ser1424Phe) c.4817C>T (p.Ser1606Phe) c.4634C>T (p.Ser1545Phe) c.4355C>T (p.Ser1452Phe) c.3398C>T (p.Ser1133Phe) c.3389C>T (p.Ser1130Phe) | |
| 5 | g.37020464T>A | CA443904881 | NIPBL | c.5016T>A (p.Ser1672=) c.1-44114T>A (n.1-44114T>A) c.4272T>A (p.Ser1424=) c.4818T>A (p.Ser1606=) c.4635T>A (p.Ser1545=) c.4356T>A (p.Ser1452=) c.3399T>A (p.Ser1133=) c.3390T>A (p.Ser1130=) | |
| 5 | g.37020464T>C | CA3236691 | NIPBL | c.5016T>C (p.Ser1672=) c.1-44114T>C (n.1-44114T>C) c.4272T>C (p.Ser1424=) c.4818T>C (p.Ser1606=) c.4635T>C (p.Ser1545=) c.4356T>C (p.Ser1452=) c.3399T>C (p.Ser1133=) c.3390T>C (p.Ser1130=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37020464T>G | CA443904882 | NIPBL | c.5016T>G (p.Ser1672=) c.1-44114T>G (n.1-44114T>G) c.4272T>G (p.Ser1424=) c.4818T>G (p.Ser1606=) c.4635T>G (p.Ser1545=) c.4356T>G (p.Ser1452=) c.3399T>G (p.Ser1133=) c.3390T>G (p.Ser1130=) | |
| 5 | g.37020464T= | CA1539619118 | NIPBL | c.5016T= (p.Ser1672=) c.1-44114T= (n.1-44114T=) c.4272T= (p.Ser1424=) c.4818T= (p.Ser1606=) c.4635T= (p.Ser1545=) c.4356T= (p.Ser1452=) c.3399T= (p.Ser1133=) c.3390T= (p.Ser1130=) | |
| 5 | g.37020465C>A | CA359486251 | NIPBL | c.5017C>A (p.Arg1673Ser) c.1-44113C>A (n.1-44113C>A) c.4273C>A (p.Arg1425Ser) c.4819C>A (p.Arg1607Ser) c.4636C>A (p.Arg1546Ser) c.4357C>A (p.Arg1453Ser) c.3400C>A (p.Arg1134Ser) c.3391C>A (p.Arg1131Ser) | gnomAD v4 |
| 5 | g.37020465C= | CA1539619122 | NIPBL | c.5017C= (p.Arg1673=) c.1-44113C= (n.1-44113C=) c.4273C= (p.Arg1425=) c.4819C= (p.Arg1607=) c.4636C= (p.Arg1546=) c.4357C= (p.Arg1453=) c.3400C= (p.Arg1134=) c.3391C= (p.Arg1131=) | |
| 5 | g.37020465C>G | CA359486252 | NIPBL | c.5017C>G (p.Arg1673Gly) c.1-44113C>G (n.1-44113C>G) c.4273C>G (p.Arg1425Gly) c.4819C>G (p.Arg1607Gly) c.4636C>G (p.Arg1546Gly) c.4357C>G (p.Arg1453Gly) c.3400C>G (p.Arg1134Gly) c.3391C>G (p.Arg1131Gly) | |
| 5 | g.37020465C>T | CA117027886 | NIPBL | c.5017C>T (p.Arg1673Cys) c.1-44113C>T (n.1-44113C>T) c.4273C>T (p.Arg1425Cys) c.4819C>T (p.Arg1607Cys) c.4636C>T (p.Arg1546Cys) c.4357C>T (p.Arg1453Cys) c.3400C>T (p.Arg1134Cys) c.3391C>T (p.Arg1131Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.37020466G>A | CA3236692 | NIPBL | c.5018G>A (p.Arg1673His) c.1-44112G>A (n.1-44112G>A) c.4274G>A (p.Arg1425His) c.4820G>A (p.Arg1607His) c.4637G>A (p.Arg1546His) c.4358G>A (p.Arg1453His) c.3401G>A (p.Arg1134His) c.3392G>A (p.Arg1131His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37020466G>C | CA359486254 | NIPBL | c.5018G>C (p.Arg1673Pro) c.1-44112G>C (n.1-44112G>C) c.4274G>C (p.Arg1425Pro) c.4820G>C (p.Arg1607Pro) c.4637G>C (p.Arg1546Pro) c.4358G>C (p.Arg1453Pro) c.3401G>C (p.Arg1134Pro) c.3392G>C (p.Arg1131Pro) | |
| 5 | g.37020466G= | CA1539619128 | NIPBL | c.5018G= (p.Arg1673=) c.1-44112G= (n.1-44112G=) c.4274G= (p.Arg1425=) c.4820G= (p.Arg1607=) c.4637G= (p.Arg1546=) c.4358G= (p.Arg1453=) c.3401G= (p.Arg1134=) c.3392G= (p.Arg1131=) | |
| 5 | g.37020466G>T | CA359486256 | NIPBL | c.5018G>T (p.Arg1673Leu) c.1-44112G>T (n.1-44112G>T) c.4274G>T (p.Arg1425Leu) c.4820G>T (p.Arg1607Leu) c.4637G>T (p.Arg1546Leu) c.4358G>T (p.Arg1453Leu) c.3401G>T (p.Arg1134Leu) c.3392G>T (p.Arg1131Leu) | |
| 5 | g.37020467T>A | CA443904884 | NIPBL | c.5019T>A (p.Arg1673=) c.1-44111T>A (n.1-44111T>A) c.4275T>A (p.Arg1425=) c.4821T>A (p.Arg1607=) c.4638T>A (p.Arg1546=) c.4359T>A (p.Arg1453=) c.3402T>A (p.Arg1134=) c.3393T>A (p.Arg1131=) | |
| 5 | g.37020467T>C | CA443904885 | NIPBL | c.5019T>C (p.Arg1673=) c.1-44111T>C (n.1-44111T>C) c.4275T>C (p.Arg1425=) c.4821T>C (p.Arg1607=) c.4638T>C (p.Arg1546=) c.4359T>C (p.Arg1453=) c.3402T>C (p.Arg1134=) c.3393T>C (p.Arg1131=) | gnomAD v4 |
| 5 | g.37020467T>G | CA443904886 | NIPBL | c.5019T>G (p.Arg1673=) c.1-44111T>G (n.1-44111T>G) c.4275T>G (p.Arg1425=) c.4821T>G (p.Arg1607=) c.4638T>G (p.Arg1546=) c.4359T>G (p.Arg1453=) c.3402T>G (p.Arg1134=) c.3393T>G (p.Arg1131=) | |
| 5 | g.37020468A>C | CA359486271 | NIPBL | c.5020A>C (p.Lys1674Gln) c.1-44110A>C (n.1-44110A>C) c.4276A>C (p.Lys1426Gln) c.4822A>C (p.Lys1608Gln) c.4639A>C (p.Lys1547Gln) c.4360A>C (p.Lys1454Gln) c.3403A>C (p.Lys1135Gln) c.3394A>C (p.Lys1132Gln) | |
| 5 | g.37020468A>G | CA359486268 | NIPBL | c.5020A>G (p.Lys1674Glu) c.1-44110A>G (n.1-44110A>G) c.4276A>G (p.Lys1426Glu) c.4822A>G (p.Lys1608Glu) c.4639A>G (p.Lys1547Glu) c.4360A>G (p.Lys1454Glu) c.3403A>G (p.Lys1135Glu) c.3394A>G (p.Lys1132Glu) | |
| 5 | g.37020468A>T | CA359486264 | NIPBL | c.5020A>T (p.Lys1674Ter) c.1-44110A>T (n.1-44110A>T) c.4276A>T (p.Lys1426Ter) c.4822A>T (p.Lys1608Ter) c.4639A>T (p.Lys1547Ter) c.4360A>T (p.Lys1454Ter) c.3403A>T (p.Lys1135Ter) c.3394A>T (p.Lys1132Ter) | |
| 5 | g.37020469A>C | CA359486275 | NIPBL | c.5021A>C (p.Lys1674Thr) c.1-44109A>C (n.1-44109A>C) c.4277A>C (p.Lys1426Thr) c.4823A>C (p.Lys1608Thr) c.4640A>C (p.Lys1547Thr) c.4361A>C (p.Lys1454Thr) c.3404A>C (p.Lys1135Thr) c.3395A>C (p.Lys1132Thr) | |
| 5 | g.37020469A>G | CA359486283 | NIPBL | c.5021A>G (p.Lys1674Arg) c.1-44109A>G (n.1-44109A>G) c.4277A>G (p.Lys1426Arg) c.4823A>G (p.Lys1608Arg) c.4640A>G (p.Lys1547Arg) c.4361A>G (p.Lys1454Arg) c.3404A>G (p.Lys1135Arg) c.3395A>G (p.Lys1132Arg) | COSMIC COSMIC |
| 5 | g.37020469A>T | CA359486284 | NIPBL | c.5021A>T (p.Lys1674Ile) c.1-44109A>T (n.1-44109A>T) c.4277A>T (p.Lys1426Ile) c.4823A>T (p.Lys1608Ile) c.4640A>T (p.Lys1547Ile) c.4361A>T (p.Lys1454Ile) c.3404A>T (p.Lys1135Ile) c.3395A>T (p.Lys1132Ile) | |
| 5 | g.37020470A>C | CA359486287 | NIPBL | c.5022A>C (p.Lys1674Asn) c.1-44108A>C (n.1-44108A>C) c.4278A>C (p.Lys1426Asn) c.4824A>C (p.Lys1608Asn) c.4641A>C (p.Lys1547Asn) c.4362A>C (p.Lys1454Asn) c.3405A>C (p.Lys1135Asn) c.3396A>C (p.Lys1132Asn) | |
| 5 | g.37020470A>G | CA443904890 | NIPBL | c.5022A>G (p.Lys1674=) c.1-44108A>G (n.1-44108A>G) c.4278A>G (p.Lys1426=) c.4824A>G (p.Lys1608=) c.4641A>G (p.Lys1547=) c.4362A>G (p.Lys1454=) c.3405A>G (p.Lys1135=) c.3396A>G (p.Lys1132=) | |
| 5 | g.37020470A>T | CA359486288 | NIPBL | c.5022A>T (p.Lys1674Asn) c.1-44108A>T (n.1-44108A>T) c.4278A>T (p.Lys1426Asn) c.4824A>T (p.Lys1608Asn) c.4641A>T (p.Lys1547Asn) c.4362A>T (p.Lys1454Asn) c.3405A>T (p.Lys1135Asn) c.3396A>T (p.Lys1132Asn) | |
| 5 | g.37020471T>A | CA359486290 | NIPBL | c.5023T>A (p.Phe1675Ile) c.1-44107T>A (n.1-44107T>A) c.4279T>A (p.Phe1427Ile) c.4825T>A (p.Phe1609Ile) c.4642T>A (p.Phe1548Ile) c.4363T>A (p.Phe1455Ile) c.3406T>A (p.Phe1136Ile) c.3397T>A (p.Phe1133Ile) | |
| 5 | g.37020471T>C | CA359486291 | NIPBL | c.5023T>C (p.Phe1675Leu) c.1-44107T>C (n.1-44107T>C) c.4279T>C (p.Phe1427Leu) c.4825T>C (p.Phe1609Leu) c.4642T>C (p.Phe1548Leu) c.4363T>C (p.Phe1455Leu) c.3406T>C (p.Phe1136Leu) c.3397T>C (p.Phe1133Leu) | |
| 5 | g.37020471T>G | CA359486292 | NIPBL | c.5023T>G (p.Phe1675Val) c.1-44107T>G (n.1-44107T>G) c.4279T>G (p.Phe1427Val) c.4825T>G (p.Phe1609Val) c.4642T>G (p.Phe1548Val) c.4363T>G (p.Phe1455Val) c.3406T>G (p.Phe1136Val) c.3397T>G (p.Phe1133Val) | |
| 5 | g.37020472T>A | CA359486294 | NIPBL | c.5024T>A (p.Phe1675Tyr) c.1-44106T>A (n.1-44106T>A) c.4280T>A (p.Phe1427Tyr) c.4826T>A (p.Phe1609Tyr) c.4643T>A (p.Phe1548Tyr) c.4364T>A (p.Phe1455Tyr) c.3407T>A (p.Phe1136Tyr) c.3398T>A (p.Phe1133Tyr) | |
| 5 | g.37020472T>C | CA359486297 | NIPBL | c.5024T>C (p.Phe1675Ser) c.1-44106T>C (n.1-44106T>C) c.4280T>C (p.Phe1427Ser) c.4826T>C (p.Phe1609Ser) c.4643T>C (p.Phe1548Ser) c.4364T>C (p.Phe1455Ser) c.3407T>C (p.Phe1136Ser) c.3398T>C (p.Phe1133Ser) | |
| 5 | g.37020472T>G | CA359486296 | NIPBL | c.5024T>G (p.Phe1675Cys) c.1-44106T>G (n.1-44106T>G) c.4280T>G (p.Phe1427Cys) c.4826T>G (p.Phe1609Cys) c.4643T>G (p.Phe1548Cys) c.4364T>G (p.Phe1455Cys) c.3407T>G (p.Phe1136Cys) c.3398T>G (p.Phe1133Cys) | |
| 5 | g.37020473C>A | CA359486299 | NIPBL | c.5025C>A (p.Phe1675Leu) c.1-44105C>A (n.1-44105C>A) c.4281C>A (p.Phe1427Leu) c.4827C>A (p.Phe1609Leu) c.4644C>A (p.Phe1548Leu) c.4365C>A (p.Phe1455Leu) c.3408C>A (p.Phe1136Leu) c.3399C>A (p.Phe1133Leu) | COSMIC COSMIC |
| 5 | g.37020473C>G | CA359486302 | NIPBL | c.5025C>G (p.Phe1675Leu) c.1-44105C>G (n.1-44105C>G) c.4281C>G (p.Phe1427Leu) c.4827C>G (p.Phe1609Leu) c.4644C>G (p.Phe1548Leu) c.4365C>G (p.Phe1455Leu) c.3408C>G (p.Phe1136Leu) c.3399C>G (p.Phe1133Leu) | |
| 5 | g.37020473C>T | CA443904894 | NIPBL | c.5025C>T (p.Phe1675=) c.1-44105C>T (n.1-44105C>T) c.4281C>T (p.Phe1427=) c.4827C>T (p.Phe1609=) c.4644C>T (p.Phe1548=) c.4365C>T (p.Phe1455=) c.3408C>T (p.Phe1136=) c.3399C>T (p.Phe1133=) | |
| 5 | g.37020474T>A | CA359486303 | NIPBL | c.5026T>A (p.Tyr1676Asn) c.1-44104T>A (n.1-44104T>A) c.4282T>A (p.Tyr1428Asn) c.4828T>A (p.Tyr1610Asn) c.4645T>A (p.Tyr1549Asn) c.4366T>A (p.Tyr1456Asn) c.3409T>A (p.Tyr1137Asn) c.3400T>A (p.Tyr1134Asn) | |
| 5 | g.37020474T>C | CA359486305 | NIPBL | c.5026T>C (p.Tyr1676His) c.1-44104T>C (n.1-44104T>C) c.4282T>C (p.Tyr1428His) c.4828T>C (p.Tyr1610His) c.4645T>C (p.Tyr1549His) c.4366T>C (p.Tyr1456His) c.3409T>C (p.Tyr1137His) c.3400T>C (p.Tyr1134His) | |
| 5 | g.37020474T>G | CA359486307 | NIPBL | c.5026T>G (p.Tyr1676Asp) c.1-44104T>G (n.1-44104T>G) c.4282T>G (p.Tyr1428Asp) c.4828T>G (p.Tyr1610Asp) c.4645T>G (p.Tyr1549Asp) c.4366T>G (p.Tyr1456Asp) c.3409T>G (p.Tyr1137Asp) c.3400T>G (p.Tyr1134Asp) | |
| 5 | g.37020478_37020479del | CA2695204344 | NIPBL | c.5030_5031del (p.Ile1677SerfsTer21) c.1-44100_1-44099del (n.1-44100_1-44099del) c.4286_4287del (p.Ile1429SerfsTer21) c.4832_4833del (p.Ile1611SerfsTer21) c.4649_4650del (p.Ile1550SerfsTer21) c.4370_4371del (p.Ile1457SerfsTer21) c.3413_3414del (p.Ile1138SerfsTer21) c.3404_3405del (p.Ile1135SerfsTer21) | |
| 5 | g.37020475A= | CA1539619134 | NIPBL | c.5027A= (p.Tyr1676=) c.1-44103A= (n.1-44103A=) c.4283A= (p.Tyr1428=) c.4829A= (p.Tyr1610=) c.4646A= (p.Tyr1549=) c.4367A= (p.Tyr1456=) c.3410A= (p.Tyr1137=) c.3401A= (p.Tyr1134=) | |
| 5 | g.37020475A>C | CA359486309 | NIPBL | c.5027A>C (p.Tyr1676Ser) c.1-44103A>C (n.1-44103A>C) c.4283A>C (p.Tyr1428Ser) c.4829A>C (p.Tyr1610Ser) c.4646A>C (p.Tyr1549Ser) c.4367A>C (p.Tyr1456Ser) c.3410A>C (p.Tyr1137Ser) c.3401A>C (p.Tyr1134Ser) | |
| 5 | g.37020475A>G | CA117027894 | NIPBL | c.5027A>G (p.Tyr1676Cys) c.1-44103A>G (n.1-44103A>G) c.4283A>G (p.Tyr1428Cys) c.4829A>G (p.Tyr1610Cys) c.4646A>G (p.Tyr1549Cys) c.4367A>G (p.Tyr1456Cys) c.3410A>G (p.Tyr1137Cys) c.3401A>G (p.Tyr1134Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020475A>T | CA359486311 | NIPBL | c.5027A>T (p.Tyr1676Phe) c.1-44103A>T (n.1-44103A>T) c.4283A>T (p.Tyr1428Phe) c.4829A>T (p.Tyr1610Phe) c.4646A>T (p.Tyr1549Phe) c.4367A>T (p.Tyr1456Phe) c.3410A>T (p.Tyr1137Phe) c.3401A>T (p.Tyr1134Phe) | |
| 5 | g.37020476T>A | CA359486314 | NIPBL | c.5028T>A (p.Tyr1676Ter) c.1-44102T>A (n.1-44102T>A) c.4284T>A (p.Tyr1428Ter) c.4830T>A (p.Tyr1610Ter) c.4647T>A (p.Tyr1549Ter) c.4368T>A (p.Tyr1456Ter) c.3411T>A (p.Tyr1137Ter) c.3402T>A (p.Tyr1134Ter) | |
| 5 | g.37020476T>C | CA443904896 | NIPBL | c.5028T>C (p.Tyr1676=) c.1-44102T>C (n.1-44102T>C) c.4284T>C (p.Tyr1428=) c.4830T>C (p.Tyr1610=) c.4647T>C (p.Tyr1549=) c.4368T>C (p.Tyr1456=) c.3411T>C (p.Tyr1137=) c.3402T>C (p.Tyr1134=) | |
| 5 | g.37020476T>G | CA359486315 | NIPBL | c.5028T>G (p.Tyr1676Ter) c.1-44102T>G (n.1-44102T>G) c.4284T>G (p.Tyr1428Ter) c.4830T>G (p.Tyr1610Ter) c.4647T>G (p.Tyr1549Ter) c.4368T>G (p.Tyr1456Ter) c.3411T>G (p.Tyr1137Ter) c.3402T>G (p.Tyr1134Ter) | |
| 5 | g.37020477A= | CA1539619135 | NIPBL | c.5029A= (p.Ile1677=) c.1-44101A= (n.1-44101A=) c.4285A= (p.Ile1429=) c.4831A= (p.Ile1611=) c.4648A= (p.Ile1550=) c.4369A= (p.Ile1457=) c.3412A= (p.Ile1138=) c.3403A= (p.Ile1135=) | |
| 5 | g.37020477A>C | CA359486316 | NIPBL | c.5029A>C (p.Ile1677Leu) c.1-44101A>C (n.1-44101A>C) c.4285A>C (p.Ile1429Leu) c.4831A>C (p.Ile1611Leu) c.4648A>C (p.Ile1550Leu) c.4369A>C (p.Ile1457Leu) c.3412A>C (p.Ile1138Leu) c.3403A>C (p.Ile1135Leu) | |
| 5 | g.37020477A>G | CA359486317 | NIPBL | c.5029A>G (p.Ile1677Val) c.1-44101A>G (n.1-44101A>G) c.4285A>G (p.Ile1429Val) c.4831A>G (p.Ile1611Val) c.4648A>G (p.Ile1550Val) c.4369A>G (p.Ile1457Val) c.3412A>G (p.Ile1138Val) c.3403A>G (p.Ile1135Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37020477A>T | CA359486318 | NIPBL | c.5029A>T (p.Ile1677Leu) c.1-44101A>T (n.1-44101A>T) c.4285A>T (p.Ile1429Leu) c.4831A>T (p.Ile1611Leu) c.4648A>T (p.Ile1550Leu) c.4369A>T (p.Ile1457Leu) c.3412A>T (p.Ile1138Leu) c.3403A>T (p.Ile1135Leu) | gnomAD v4 |
| 5 | g.37020478T>A | CA359486320 | NIPBL | c.5030T>A (p.Ile1677Lys) c.1-44100T>A (n.1-44100T>A) c.4286T>A (p.Ile1429Lys) c.4832T>A (p.Ile1611Lys) c.4649T>A (p.Ile1550Lys) c.4370T>A (p.Ile1457Lys) c.3413T>A (p.Ile1138Lys) c.3404T>A (p.Ile1135Lys) | |
| 5 | g.37020478T>C | CA359486322 | NIPBL | c.5030T>C (p.Ile1677Thr) c.1-44100T>C (n.1-44100T>C) c.4286T>C (p.Ile1429Thr) c.4832T>C (p.Ile1611Thr) c.4649T>C (p.Ile1550Thr) c.4370T>C (p.Ile1457Thr) c.3413T>C (p.Ile1138Thr) c.3404T>C (p.Ile1135Thr) | |
| 5 | g.37020478T>G | CA359486325 | NIPBL | c.5030T>G (p.Ile1677Arg) c.1-44100T>G (n.1-44100T>G) c.4286T>G (p.Ile1429Arg) c.4832T>G (p.Ile1611Arg) c.4649T>G (p.Ile1550Arg) c.4370T>G (p.Ile1457Arg) c.3413T>G (p.Ile1138Arg) c.3404T>G (p.Ile1135Arg) | |
| 5 | g.37020479A>C | CA443904898 | NIPBL | c.5031A>C (p.Ile1677=) c.1-44099A>C (n.1-44099A>C) c.4287A>C (p.Ile1429=) c.4833A>C (p.Ile1611=) c.4650A>C (p.Ile1550=) c.4371A>C (p.Ile1457=) c.3414A>C (p.Ile1138=) c.3405A>C (p.Ile1135=) | |
| 5 | g.37020479A>G | CA359486326 | NIPBL | c.5031A>G (p.Ile1677Met) c.1-44099A>G (n.1-44099A>G) c.4287A>G (p.Ile1429Met) c.4833A>G (p.Ile1611Met) c.4650A>G (p.Ile1550Met) c.4371A>G (p.Ile1457Met) c.3414A>G (p.Ile1138Met) c.3405A>G (p.Ile1135Met) | |
| 5 | g.37020479A>T | CA443904899 | NIPBL | c.5031A>T (p.Ile1677=) c.1-44099A>T (n.1-44099A>T) c.4287A>T (p.Ile1429=) c.4833A>T (p.Ile1611=) c.4650A>T (p.Ile1550=) c.4371A>T (p.Ile1457=) c.3414A>T (p.Ile1138=) c.3405A>T (p.Ile1135=) | |
| 5 | g.37020479_37020486delinsAGCCCAGT | CA1539619138 | NIPBL | c.5031_5038delinsAGCCCAGT (p.Ile1677=) c.1-44099_1-44092delinsAGCCCAGT (n.1-44099_1-44092delinsAGCCCAGT) c.4287_4294delinsAGCCCAGT (p.Ile1429=) c.4833_4840delinsAGCCCAGT (p.Ile1611=) c.4650_4657delinsAGCCCAGT (p.Ile1550=) c.4371_4378delinsAGCCCAGT (p.Ile1457=) c.3414_3421delinsAGCCCAGT (p.Ile1138=) c.3405_3412delinsAGCCCAGT (p.Ile1135=) | |
| 5 | g.37020480G>A | CA359486328 | NIPBL | c.5032G>A (p.Ala1678Thr) c.1-44098G>A (n.1-44098G>A) c.4288G>A (p.Ala1430Thr) c.4834G>A (p.Ala1612Thr) c.4651G>A (p.Ala1551Thr) c.4372G>A (p.Ala1458Thr) c.3415G>A (p.Ala1139Thr) c.3406G>A (p.Ala1136Thr) | |
| 5 | g.37020480G>C | CA359486330 | NIPBL | c.5032G>C (p.Ala1678Pro) c.1-44098G>C (n.1-44098G>C) c.4288G>C (p.Ala1430Pro) c.4834G>C (p.Ala1612Pro) c.4651G>C (p.Ala1551Pro) c.4372G>C (p.Ala1458Pro) c.3415G>C (p.Ala1139Pro) c.3406G>C (p.Ala1136Pro) | |
| 5 | g.37020480G>T | CA359486333 | NIPBL | c.5032G>T (p.Ala1678Ser) c.1-44098G>T (n.1-44098G>T) c.4288G>T (p.Ala1430Ser) c.4834G>T (p.Ala1612Ser) c.4651G>T (p.Ala1551Ser) c.4372G>T (p.Ala1458Ser) c.3415G>T (p.Ala1139Ser) c.3406G>T (p.Ala1136Ser) | |
| 5 | g.37020481_37020487del | CA272131 | NIPBL | c.5033_5039del (p.Ala1678GlyfsTer13) c.1-44097_1-44091del (n.1-44097_1-44091del) c.4289_4295del (p.Ala1430GlyfsTer13) c.4835_4841del (p.Ala1612GlyfsTer13) c.4652_4658del (p.Ala1551GlyfsTer13) c.4373_4379del (p.Ala1458GlyfsTer13) c.3416_3422del (p.Ala1139GlyfsTer13) c.3407_3413del (p.Ala1136GlyfsTer13) | ClinVar dbSNP |
| 5 | g.37020481C>A | CA359486337 | NIPBL | c.5033C>A (p.Ala1678Asp) c.1-44097C>A (n.1-44097C>A) c.4289C>A (p.Ala1430Asp) c.4835C>A (p.Ala1612Asp) c.4652C>A (p.Ala1551Asp) c.4373C>A (p.Ala1458Asp) c.3416C>A (p.Ala1139Asp) c.3407C>A (p.Ala1136Asp) | |
| 5 | g.37020481C>G | CA359486339 | NIPBL | c.5033C>G (p.Ala1678Gly) c.1-44097C>G (n.1-44097C>G) c.4289C>G (p.Ala1430Gly) c.4835C>G (p.Ala1612Gly) c.4652C>G (p.Ala1551Gly) c.4373C>G (p.Ala1458Gly) c.3416C>G (p.Ala1139Gly) c.3407C>G (p.Ala1136Gly) | |
| 5 | g.37020481C>T | CA359486340 | NIPBL | c.5033C>T (p.Ala1678Val) c.1-44097C>T (n.1-44097C>T) c.4289C>T (p.Ala1430Val) c.4835C>T (p.Ala1612Val) c.4652C>T (p.Ala1551Val) c.4373C>T (p.Ala1458Val) c.3416C>T (p.Ala1139Val) c.3407C>T (p.Ala1136Val) | |
| 5 | g.37020482C>A | CA443904902 | NIPBL | c.5034C>A (p.Ala1678=) c.1-44096C>A (n.1-44096C>A) c.4290C>A (p.Ala1430=) c.4836C>A (p.Ala1612=) c.4653C>A (p.Ala1551=) c.4374C>A (p.Ala1458=) c.3417C>A (p.Ala1139=) c.3408C>A (p.Ala1136=) | |
| 5 | g.37020482C= | CA1539619145 | NIPBL | c.5034C= (p.Ala1678=) c.1-44096C= (n.1-44096C=) c.4290C= (p.Ala1430=) c.4836C= (p.Ala1612=) c.4653C= (p.Ala1551=) c.4374C= (p.Ala1458=) c.3417C= (p.Ala1139=) c.3408C= (p.Ala1136=) | |
| 5 | g.37020482C>G | CA443904903 | NIPBL | c.5034C>G (p.Ala1678=) c.1-44096C>G (n.1-44096C>G) c.4290C>G (p.Ala1430=) c.4836C>G (p.Ala1612=) c.4653C>G (p.Ala1551=) c.4374C>G (p.Ala1458=) c.3417C>G (p.Ala1139=) c.3408C>G (p.Ala1136=) | dbSNP gnomAD v4 |
| 5 | g.37020482C>T | CA117027921 | NIPBL | c.5034C>T (p.Ala1678=) c.1-44096C>T (n.1-44096C>T) c.4290C>T (p.Ala1430=) c.4836C>T (p.Ala1612=) c.4653C>T (p.Ala1551=) c.4374C>T (p.Ala1458=) c.3417C>T (p.Ala1139=) c.3408C>T (p.Ala1136=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020483C>A | CA359486343 | NIPBL | c.5035C>A (p.Gln1679Lys) c.1-44095C>A (n.1-44095C>A) c.4291C>A (p.Gln1431Lys) c.4837C>A (p.Gln1613Lys) c.4654C>A (p.Gln1552Lys) c.4375C>A (p.Gln1459Lys) c.3418C>A (p.Gln1140Lys) c.3409C>A (p.Gln1137Lys) | |
| 5 | g.37020483C>G | CA359486346 | NIPBL | c.5035C>G (p.Gln1679Glu) c.1-44095C>G (n.1-44095C>G) c.4291C>G (p.Gln1431Glu) c.4837C>G (p.Gln1613Glu) c.4654C>G (p.Gln1552Glu) c.4375C>G (p.Gln1459Glu) c.3418C>G (p.Gln1140Glu) c.3409C>G (p.Gln1137Glu) | |
| 5 | g.37020483C>T | CA359486352 | NIPBL | c.5035C>T (p.Gln1679Ter) c.1-44095C>T (n.1-44095C>T) c.4291C>T (p.Gln1431Ter) c.4837C>T (p.Gln1613Ter) c.4654C>T (p.Gln1552Ter) c.4375C>T (p.Gln1459Ter) c.3418C>T (p.Gln1140Ter) c.3409C>T (p.Gln1137Ter) | |
| 5 | g.37020484A>C | CA359486355 | NIPBL | c.5036A>C (p.Gln1679Pro) c.1-44094A>C (n.1-44094A>C) c.4292A>C (p.Gln1431Pro) c.4838A>C (p.Gln1613Pro) c.4655A>C (p.Gln1552Pro) c.4376A>C (p.Gln1459Pro) c.3419A>C (p.Gln1140Pro) c.3410A>C (p.Gln1137Pro) | |
| 5 | g.37020484A>G | CA359486357 | NIPBL | c.5036A>G (p.Gln1679Arg) c.1-44094A>G (n.1-44094A>G) c.4292A>G (p.Gln1431Arg) c.4838A>G (p.Gln1613Arg) c.4655A>G (p.Gln1552Arg) c.4376A>G (p.Gln1459Arg) c.3419A>G (p.Gln1140Arg) c.3410A>G (p.Gln1137Arg) | |
| 5 | g.37020484A>T | CA359486368 | NIPBL | c.5036A>T (p.Gln1679Leu) c.1-44094A>T (n.1-44094A>T) c.4292A>T (p.Gln1431Leu) c.4838A>T (p.Gln1613Leu) c.4655A>T (p.Gln1552Leu) c.4376A>T (p.Gln1459Leu) c.3419A>T (p.Gln1140Leu) c.3410A>T (p.Gln1137Leu) | |
| 5 | g.37020485G>A | CA443904905 | NIPBL | c.5037G>A (p.Gln1679=) c.1-44093G>A (n.1-44093G>A) c.4293G>A (p.Gln1431=) c.4839G>A (p.Gln1613=) c.4656G>A (p.Gln1552=) c.4377G>A (p.Gln1459=) c.3420G>A (p.Gln1140=) c.3411G>A (p.Gln1137=) | ClinVar COSMIC COSMIC |
| 5 | g.37020485G>C | CA359486372 | NIPBL | c.5037G>C (p.Gln1679His) c.1-44093G>C (n.1-44093G>C) c.4293G>C (p.Gln1431His) c.4839G>C (p.Gln1613His) c.4656G>C (p.Gln1552His) c.4377G>C (p.Gln1459His) c.3420G>C (p.Gln1140His) c.3411G>C (p.Gln1137His) | |
| 5 | g.37020485G>T | CA359486373 | NIPBL | c.5037G>T (p.Gln1679His) c.1-44093G>T (n.1-44093G>T) c.4293G>T (p.Gln1431His) c.4839G>T (p.Gln1613His) c.4656G>T (p.Gln1552His) c.4377G>T (p.Gln1459His) c.3420G>T (p.Gln1140His) c.3411G>T (p.Gln1137His) | |
| 5 | g.37020486T>A | CA359486378 | NIPBL | c.5038T>A (p.Trp1680Arg) c.1-44092T>A (n.1-44092T>A) c.4294T>A (p.Trp1432Arg) c.4840T>A (p.Trp1614Arg) c.4657T>A (p.Trp1553Arg) c.4378T>A (p.Trp1460Arg) c.3421T>A (p.Trp1141Arg) c.3412T>A (p.Trp1138Arg) | |
| 5 | g.37020486T>C | CA359486380 | NIPBL | c.5038T>C (p.Trp1680Arg) c.1-44092T>C (n.1-44092T>C) c.4294T>C (p.Trp1432Arg) c.4840T>C (p.Trp1614Arg) c.4657T>C (p.Trp1553Arg) c.4378T>C (p.Trp1460Arg) c.3421T>C (p.Trp1141Arg) c.3412T>C (p.Trp1138Arg) | |
| 5 | g.37020486T>G | CA359486382 | NIPBL | c.5038T>G (p.Trp1680Gly) c.1-44092T>G (n.1-44092T>G) c.4294T>G (p.Trp1432Gly) c.4840T>G (p.Trp1614Gly) c.4657T>G (p.Trp1553Gly) c.4378T>G (p.Trp1460Gly) c.3421T>G (p.Trp1141Gly) c.3412T>G (p.Trp1138Gly) | |
| 5 | g.37020487G>A | CA359486389 | NIPBL | c.5039G>A (p.Trp1680Ter) c.1-44091G>A (n.1-44091G>A) c.4295G>A (p.Trp1432Ter) c.4841G>A (p.Trp1614Ter) c.4658G>A (p.Trp1553Ter) c.4379G>A (p.Trp1460Ter) c.3422G>A (p.Trp1141Ter) c.3413G>A (p.Trp1138Ter) | |
| 5 | g.37020487G>C | CA359486390 | NIPBL | c.5039G>C (p.Trp1680Ser) c.1-44091G>C (n.1-44091G>C) c.4295G>C (p.Trp1432Ser) c.4841G>C (p.Trp1614Ser) c.4658G>C (p.Trp1553Ser) c.4379G>C (p.Trp1460Ser) c.3422G>C (p.Trp1141Ser) c.3413G>C (p.Trp1138Ser) | |
| 5 | g.37020487G>T | CA359486387 | NIPBL | c.5039G>T (p.Trp1680Leu) c.1-44091G>T (n.1-44091G>T) c.4295G>T (p.Trp1432Leu) c.4841G>T (p.Trp1614Leu) c.4658G>T (p.Trp1553Leu) c.4379G>T (p.Trp1460Leu) c.3422G>T (p.Trp1141Leu) c.3413G>T (p.Trp1138Leu) | |
| 5 | g.37020488G>A | CA359486393 | NIPBL | c.5040G>A (p.Trp1680Ter) c.1-44090G>A (n.1-44090G>A) c.4296G>A (p.Trp1432Ter) c.4842G>A (p.Trp1614Ter) c.4659G>A (p.Trp1553Ter) c.4380G>A (p.Trp1460Ter) c.3423G>A (p.Trp1141Ter) c.3414G>A (p.Trp1138Ter) | |
| 5 | g.37020488G>C | CA359486395 | NIPBL | c.5040G>C (p.Trp1680Cys) c.1-44090G>C (n.1-44090G>C) c.4296G>C (p.Trp1432Cys) c.4842G>C (p.Trp1614Cys) c.4659G>C (p.Trp1553Cys) c.4380G>C (p.Trp1460Cys) c.3423G>C (p.Trp1141Cys) c.3414G>C (p.Trp1138Cys) | |
| 5 | g.37020488G>T | CA359486397 | NIPBL | c.5040G>T (p.Trp1680Cys) c.1-44090G>T (n.1-44090G>T) c.4296G>T (p.Trp1432Cys) c.4842G>T (p.Trp1614Cys) c.4659G>T (p.Trp1553Cys) c.4380G>T (p.Trp1460Cys) c.3423G>T (p.Trp1141Cys) c.3414G>T (p.Trp1138Cys) | |
| 5 | g.37020489T>A | CA359486400 | NIPBL | c.5041T>A (p.Phe1681Ile) c.1-44089T>A (n.1-44089T>A) c.4297T>A (p.Phe1433Ile) c.4843T>A (p.Phe1615Ile) c.4660T>A (p.Phe1554Ile) c.4381T>A (p.Phe1461Ile) c.3424T>A (p.Phe1142Ile) c.3415T>A (p.Phe1139Ile) | |
| 5 | g.37020489T>C | CA359486401 | NIPBL | c.5041T>C (p.Phe1681Leu) c.1-44089T>C (n.1-44089T>C) c.4297T>C (p.Phe1433Leu) c.4843T>C (p.Phe1615Leu) c.4660T>C (p.Phe1554Leu) c.4381T>C (p.Phe1461Leu) c.3424T>C (p.Phe1142Leu) c.3415T>C (p.Phe1139Leu) | |
| 5 | g.37020489T>G | CA359486403 | NIPBL | c.5041T>G (p.Phe1681Val) c.1-44089T>G (n.1-44089T>G) c.4297T>G (p.Phe1433Val) c.4843T>G (p.Phe1615Val) c.4660T>G (p.Phe1554Val) c.4381T>G (p.Phe1461Val) c.3424T>G (p.Phe1142Val) c.3415T>G (p.Phe1139Val) | |
| 5 | g.37020490T>A | CA359486406 | NIPBL | c.5042T>A (p.Phe1681Tyr) c.1-44088T>A (n.1-44088T>A) c.4298T>A (p.Phe1433Tyr) c.4844T>A (p.Phe1615Tyr) c.4661T>A (p.Phe1554Tyr) c.4382T>A (p.Phe1461Tyr) c.3425T>A (p.Phe1142Tyr) c.3416T>A (p.Phe1139Tyr) | |
| 5 | g.37020490T>C | CA359486411 | NIPBL | c.5042T>C (p.Phe1681Ser) c.1-44088T>C (n.1-44088T>C) c.4298T>C (p.Phe1433Ser) c.4844T>C (p.Phe1615Ser) c.4661T>C (p.Phe1554Ser) c.4382T>C (p.Phe1461Ser) c.3425T>C (p.Phe1142Ser) c.3416T>C (p.Phe1139Ser) | |
| 5 | g.37020490T>G | CA359486409 | NIPBL | c.5042T>G (p.Phe1681Cys) c.1-44088T>G (n.1-44088T>G) c.4298T>G (p.Phe1433Cys) c.4844T>G (p.Phe1615Cys) c.4661T>G (p.Phe1554Cys) c.4382T>G (p.Phe1461Cys) c.3425T>G (p.Phe1142Cys) c.3416T>G (p.Phe1139Cys) | |
| 5 | g.37020491T>A | CA359486412 | NIPBL | c.5043T>A (p.Phe1681Leu) c.1-44087T>A (n.1-44087T>A) c.4299T>A (p.Phe1433Leu) c.4845T>A (p.Phe1615Leu) c.4662T>A (p.Phe1554Leu) c.4383T>A (p.Phe1461Leu) c.3426T>A (p.Phe1142Leu) c.3417T>A (p.Phe1139Leu) | |
| 5 | g.37020491T>C | CA443904913 | NIPBL | c.5043T>C (p.Phe1681=) c.1-44087T>C (n.1-44087T>C) c.4299T>C (p.Phe1433=) c.4845T>C (p.Phe1615=) c.4662T>C (p.Phe1554=) c.4383T>C (p.Phe1461=) c.3426T>C (p.Phe1142=) c.3417T>C (p.Phe1139=) | |
| 5 | g.37020491T>G | CA359486414 | NIPBL | c.5043T>G (p.Phe1681Leu) c.1-44087T>G (n.1-44087T>G) c.4299T>G (p.Phe1433Leu) c.4845T>G (p.Phe1615Leu) c.4662T>G (p.Phe1554Leu) c.4383T>G (p.Phe1461Leu) c.3426T>G (p.Phe1142Leu) c.3417T>G (p.Phe1139Leu) | |
| 5 | g.37020492C>A | CA443904914 | NIPBL | c.5044C>A (p.Arg1682=) c.1-44086C>A (n.1-44086C>A) c.4300C>A (p.Arg1434=) c.4846C>A (p.Arg1616=) c.4663C>A (p.Arg1555=) c.4384C>A (p.Arg1462=) c.3427C>A (p.Arg1143=) c.3418C>A (p.Arg1140=) | gnomAD v4 |
| 5 | g.37020492C= | CA1539619150 | NIPBL | c.5044C= (p.Arg1682=) c.1-44086C= (n.1-44086C=) c.4300C= (p.Arg1434=) c.4846C= (p.Arg1616=) c.4663C= (p.Arg1555=) c.4384C= (p.Arg1462=) c.3427C= (p.Arg1143=) c.3418C= (p.Arg1140=) | |
| 5 | g.37020492C>G | CA359486415 | NIPBL | c.5044C>G (p.Arg1682Gly) c.1-44086C>G (n.1-44086C>G) c.4300C>G (p.Arg1434Gly) c.4846C>G (p.Arg1616Gly) c.4663C>G (p.Arg1555Gly) c.4384C>G (p.Arg1462Gly) c.3427C>G (p.Arg1143Gly) c.3418C>G (p.Arg1140Gly) | ClinVar |
| 5 | g.37020492C>T | CA277162 | NIPBL | c.5044C>T (p.Arg1682Ter) c.1-44086C>T (n.1-44086C>T) c.4300C>T (p.Arg1434Ter) c.4846C>T (p.Arg1616Ter) c.4663C>T (p.Arg1555Ter) c.4384C>T (p.Arg1462Ter) c.3427C>T (p.Arg1143Ter) c.3418C>T (p.Arg1140Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37020493G>A | CA359486418 | NIPBL | c.5045G>A (p.Arg1682Gln) c.1-44085G>A (n.1-44085G>A) c.4301G>A (p.Arg1434Gln) c.4847G>A (p.Arg1616Gln) c.4664G>A (p.Arg1555Gln) c.4385G>A (p.Arg1462Gln) c.3428G>A (p.Arg1143Gln) c.3419G>A (p.Arg1140Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37020493G>C | CA359486423 | NIPBL | c.5045G>C (p.Arg1682Pro) c.1-44085G>C (n.1-44085G>C) c.4301G>C (p.Arg1434Pro) c.4847G>C (p.Arg1616Pro) c.4664G>C (p.Arg1555Pro) c.4385G>C (p.Arg1462Pro) c.3428G>C (p.Arg1143Pro) c.3419G>C (p.Arg1140Pro) | |
| 5 | g.37020493G= | CA1539619159 | NIPBL | c.5045G= (p.Arg1682=) c.1-44085G= (n.1-44085G=) c.4301G= (p.Arg1434=) c.4847G= (p.Arg1616=) c.4664G= (p.Arg1555=) c.4385G= (p.Arg1462=) c.3428G= (p.Arg1143=) c.3419G= (p.Arg1140=) | |
| 5 | g.37020493G>T | CA359486420 | NIPBL | c.5045G>T (p.Arg1682Leu) c.1-44085G>T (n.1-44085G>T) c.4301G>T (p.Arg1434Leu) c.4847G>T (p.Arg1616Leu) c.4664G>T (p.Arg1555Leu) c.4385G>T (p.Arg1462Leu) c.3428G>T (p.Arg1143Leu) c.3419G>T (p.Arg1140Leu) | gnomAD v4 |
| 5 | g.37020494A= | CA1539619164 | NIPBL | c.5046A= (p.Arg1682=) c.1-44084A= (n.1-44084A=) c.4302A= (p.Arg1434=) c.4848A= (p.Arg1616=) c.4665A= (p.Arg1555=) c.4386A= (p.Arg1462=) c.3429A= (p.Arg1143=) c.3420A= (p.Arg1140=) | |
| 5 | g.37020494A>C | CA443904915 | NIPBL | c.5046A>C (p.Arg1682=) c.1-44084A>C (n.1-44084A>C) c.4302A>C (p.Arg1434=) c.4848A>C (p.Arg1616=) c.4665A>C (p.Arg1555=) c.4386A>C (p.Arg1462=) c.3429A>C (p.Arg1143=) c.3420A>C (p.Arg1140=) | |
| 5 | g.37020494A>G | CA443904916 | NIPBL | c.5046A>G (p.Arg1682=) c.1-44084A>G (n.1-44084A>G) c.4302A>G (p.Arg1434=) c.4848A>G (p.Arg1616=) c.4665A>G (p.Arg1555=) c.4386A>G (p.Arg1462=) c.3429A>G (p.Arg1143=) c.3420A>G (p.Arg1140=) | dbSNP |
| 5 | g.37020494A>T | CA443904917 | NIPBL | c.5046A>T (p.Arg1682=) c.1-44084A>T (n.1-44084A>T) c.4302A>T (p.Arg1434=) c.4848A>T (p.Arg1616=) c.4665A>T (p.Arg1555=) c.4386A>T (p.Arg1462=) c.3429A>T (p.Arg1143=) c.3420A>T (p.Arg1140=) | |
| 5 | g.37020494_37020495insTG | CA277377 | NIPBL | c.5046_5047insTG (p.Asp1683TrpfsTer11) c.1-44084_1-44083insTG (n.1-44084_1-44083insTG) c.4302_4303insTG (p.Asp1435TrpfsTer11) c.4848_4849insTG (p.Asp1617TrpfsTer11) c.4665_4666insTG (p.Asp1556TrpfsTer11) c.4386_4387insTG (p.Asp1463TrpfsTer11) c.3429_3430insTG (p.Asp1144TrpfsTer11) c.3420_3421insTG (p.Asp1141TrpfsTer11) | ClinVar dbSNP |
| 5 | g.37020495G>A | CA359486430 | NIPBL | c.5047G>A (p.Asp1683Asn) c.1-44083G>A (n.1-44083G>A) c.4303G>A (p.Asp1435Asn) c.4849G>A (p.Asp1617Asn) c.4666G>A (p.Asp1556Asn) c.4387G>A (p.Asp1463Asn) c.3430G>A (p.Asp1144Asn) c.3421G>A (p.Asp1141Asn) | COSMIC COSMIC |
| 5 | g.37020495G>C | CA359486433 | NIPBL | c.5047G>C (p.Asp1683His) c.1-44083G>C (n.1-44083G>C) c.4303G>C (p.Asp1435His) c.4849G>C (p.Asp1617His) c.4666G>C (p.Asp1556His) c.4387G>C (p.Asp1463His) c.3430G>C (p.Asp1144His) c.3421G>C (p.Asp1141His) | |
| 5 | g.37020495G>T | CA359486429 | NIPBL | c.5047G>T (p.Asp1683Tyr) c.1-44083G>T (n.1-44083G>T) c.4303G>T (p.Asp1435Tyr) c.4849G>T (p.Asp1617Tyr) c.4666G>T (p.Asp1556Tyr) c.4387G>T (p.Asp1463Tyr) c.3430G>T (p.Asp1144Tyr) c.3421G>T (p.Asp1141Tyr) | |
| 5 | g.37020496A>C | CA359486435 | NIPBL | c.5048A>C (p.Asp1683Ala) c.1-44082A>C (n.1-44082A>C) c.4304A>C (p.Asp1435Ala) c.4850A>C (p.Asp1617Ala) c.4667A>C (p.Asp1556Ala) c.4388A>C (p.Asp1463Ala) c.3431A>C (p.Asp1144Ala) c.3422A>C (p.Asp1141Ala) | |
| 5 | g.37020496A>G | CA359486437 | NIPBL | c.5048A>G (p.Asp1683Gly) c.1-44082A>G (n.1-44082A>G) c.4304A>G (p.Asp1435Gly) c.4850A>G (p.Asp1617Gly) c.4667A>G (p.Asp1556Gly) c.4388A>G (p.Asp1463Gly) c.3431A>G (p.Asp1144Gly) c.3422A>G (p.Asp1141Gly) | |
| 5 | g.37020496A>T | CA359486438 | NIPBL | c.5048A>T (p.Asp1683Val) c.1-44082A>T (n.1-44082A>T) c.4304A>T (p.Asp1435Val) c.4850A>T (p.Asp1617Val) c.4667A>T (p.Asp1556Val) c.4388A>T (p.Asp1463Val) c.3431A>T (p.Asp1144Val) c.3422A>T (p.Asp1141Val) | |
| 5 | g.37020499_37020500del | CA2695204345 | NIPBL | c.5051_5052del (p.Thr1684AsnfsTer14) c.1-44079_1-44078del (n.1-44079_1-44078del) c.4307_4308del (p.Thr1436AsnfsTer14) c.4853_4854del (p.Thr1618AsnfsTer14) c.4670_4671del (p.Thr1557AsnfsTer14) c.4391_4392del (p.Thr1464AsnfsTer14) c.3434_3435del (p.Thr1145AsnfsTer14) c.3425_3426del (p.Thr1142AsnfsTer14) | |
| 5 | g.37020497C>A | CA359486441 | NIPBL | c.5049C>A (p.Asp1683Glu) c.1-44081C>A (n.1-44081C>A) c.4305C>A (p.Asp1435Glu) c.4851C>A (p.Asp1617Glu) c.4668C>A (p.Asp1556Glu) c.4389C>A (p.Asp1463Glu) c.3432C>A (p.Asp1144Glu) c.3423C>A (p.Asp1141Glu) | |
| 5 | g.37020497C>G | CA359486443 | NIPBL | c.5049C>G (p.Asp1683Glu) c.1-44081C>G (n.1-44081C>G) c.4305C>G (p.Asp1435Glu) c.4851C>G (p.Asp1617Glu) c.4668C>G (p.Asp1556Glu) c.4389C>G (p.Asp1463Glu) c.3432C>G (p.Asp1144Glu) c.3423C>G (p.Asp1141Glu) | |
| 5 | g.37020497C>T | CA443904921 | NIPBL | c.5049C>T (p.Asp1683=) c.1-44081C>T (n.1-44081C>T) c.4305C>T (p.Asp1435=) c.4851C>T (p.Asp1617=) c.4668C>T (p.Asp1556=) c.4389C>T (p.Asp1463=) c.3432C>T (p.Asp1144=) c.3423C>T (p.Asp1141=) | gnomAD v4 |
| 5 | g.37020498A>C | CA359486446 | NIPBL | c.5050A>C (p.Thr1684Pro) c.1-44080A>C (n.1-44080A>C) c.4306A>C (p.Thr1436Pro) c.4852A>C (p.Thr1618Pro) c.4669A>C (p.Thr1557Pro) c.4390A>C (p.Thr1464Pro) c.3433A>C (p.Thr1145Pro) c.3424A>C (p.Thr1142Pro) | |
| 5 | g.37020498A>G | CA359486448 | NIPBL | c.5050A>G (p.Thr1684Ala) c.1-44080A>G (n.1-44080A>G) c.4306A>G (p.Thr1436Ala) c.4852A>G (p.Thr1618Ala) c.4669A>G (p.Thr1557Ala) c.4390A>G (p.Thr1464Ala) c.3433A>G (p.Thr1145Ala) c.3424A>G (p.Thr1142Ala) | gnomAD v4 |
| 5 | g.37020498A>T | CA359486450 | NIPBL | c.5050A>T (p.Thr1684Ser) c.1-44080A>T (n.1-44080A>T) c.4306A>T (p.Thr1436Ser) c.4852A>T (p.Thr1618Ser) c.4669A>T (p.Thr1557Ser) c.4390A>T (p.Thr1464Ser) c.3433A>T (p.Thr1145Ser) c.3424A>T (p.Thr1142Ser) | |
| 5 | g.37020499C>A | CA117027932 | NIPBL | c.5051C>A (p.Thr1684Lys) c.1-44079C>A (n.1-44079C>A) c.4307C>A (p.Thr1436Lys) c.4853C>A (p.Thr1618Lys) c.4670C>A (p.Thr1557Lys) c.4391C>A (p.Thr1464Lys) c.3434C>A (p.Thr1145Lys) c.3425C>A (p.Thr1142Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020499C= | CA1539619177 | NIPBL | c.5051C= (p.Thr1684=) c.1-44079C= (n.1-44079C=) c.4307C= (p.Thr1436=) c.4853C= (p.Thr1618=) c.4670C= (p.Thr1557=) c.4391C= (p.Thr1464=) c.3434C= (p.Thr1145=) c.3425C= (p.Thr1142=) | |
| 5 | g.37020499C>G | CA359486459 | NIPBL | c.5051C>G (p.Thr1684Arg) c.1-44079C>G (n.1-44079C>G) c.4307C>G (p.Thr1436Arg) c.4853C>G (p.Thr1618Arg) c.4670C>G (p.Thr1557Arg) c.4391C>G (p.Thr1464Arg) c.3434C>G (p.Thr1145Arg) c.3425C>G (p.Thr1142Arg) | |
| 5 | g.37020499C>T | CA10581364 | NIPBL | c.5051C>T (p.Thr1684Ile) c.1-44079C>T (n.1-44079C>T) c.4307C>T (p.Thr1436Ile) c.4853C>T (p.Thr1618Ile) c.4670C>T (p.Thr1557Ile) c.4391C>T (p.Thr1464Ile) c.3434C>T (p.Thr1145Ile) c.3425C>T (p.Thr1142Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37020500A= | CA1539619184 | NIPBL | c.5052A= (p.Thr1684=) c.1-44078A= (n.1-44078A=) c.4308A= (p.Thr1436=) c.4854A= (p.Thr1618=) c.4671A= (p.Thr1557=) c.4392A= (p.Thr1464=) c.3435A= (p.Thr1145=) c.3426A= (p.Thr1142=) | |
| 5 | g.37020500A>C | CA443904922 | NIPBL | c.5052A>C (p.Thr1684=) c.1-44078A>C (n.1-44078A>C) c.4308A>C (p.Thr1436=) c.4854A>C (p.Thr1618=) c.4671A>C (p.Thr1557=) c.4392A>C (p.Thr1464=) c.3435A>C (p.Thr1145=) c.3426A>C (p.Thr1142=) | |
| 5 | g.37020500A>G | CA3236693 | NIPBL | c.5052A>G (p.Thr1684=) c.1-44078A>G (n.1-44078A>G) c.4308A>G (p.Thr1436=) c.4854A>G (p.Thr1618=) c.4671A>G (p.Thr1557=) c.4392A>G (p.Thr1464=) c.3435A>G (p.Thr1145=) c.3426A>G (p.Thr1142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020500A>T | CA443904923 | NIPBL | c.5052A>T (p.Thr1684=) c.1-44078A>T (n.1-44078A>T) c.4308A>T (p.Thr1436=) c.4854A>T (p.Thr1618=) c.4671A>T (p.Thr1557=) c.4392A>T (p.Thr1464=) c.3435A>T (p.Thr1145=) c.3426A>T (p.Thr1142=) | |
| 5 | g.37020501A>C | CA359486465 | NIPBL | c.5053A>C (p.Thr1685Pro) c.1-44077A>C (n.1-44077A>C) c.4309A>C (p.Thr1437Pro) c.4855A>C (p.Thr1619Pro) c.4672A>C (p.Thr1558Pro) c.4393A>C (p.Thr1465Pro) c.3436A>C (p.Thr1146Pro) c.3427A>C (p.Thr1143Pro) | gnomAD v4 |
| 5 | g.37020501A>G | CA359486468 | NIPBL | c.5053A>G (p.Thr1685Ala) c.1-44077A>G (n.1-44077A>G) c.4309A>G (p.Thr1437Ala) c.4855A>G (p.Thr1619Ala) c.4672A>G (p.Thr1558Ala) c.4393A>G (p.Thr1465Ala) c.3436A>G (p.Thr1146Ala) c.3427A>G (p.Thr1143Ala) | gnomAD v4 |
| 5 | g.37020501A>T | CA359486470 | NIPBL | c.5053A>T (p.Thr1685Ser) c.1-44077A>T (n.1-44077A>T) c.4309A>T (p.Thr1437Ser) c.4855A>T (p.Thr1619Ser) c.4672A>T (p.Thr1558Ser) c.4393A>T (p.Thr1465Ser) c.3436A>T (p.Thr1146Ser) c.3427A>T (p.Thr1143Ser) | |
| 5 | g.37020502C>A | CA359486473 | NIPBL | c.5054C>A (p.Thr1685Asn) c.1-44076C>A (n.1-44076C>A) c.4310C>A (p.Thr1437Asn) c.4856C>A (p.Thr1619Asn) c.4673C>A (p.Thr1558Asn) c.4394C>A (p.Thr1465Asn) c.3437C>A (p.Thr1146Asn) c.3428C>A (p.Thr1143Asn) | |
| 5 | g.37020502C= | CA1539619187 | NIPBL | c.5054C= (p.Thr1685=) c.1-44076C= (n.1-44076C=) c.4310C= (p.Thr1437=) c.4856C= (p.Thr1619=) c.4673C= (p.Thr1558=) c.4394C= (p.Thr1465=) c.3437C= (p.Thr1146=) c.3428C= (p.Thr1143=) | |
| 5 | g.37020502C>G | CA359486475 | NIPBL | c.5054C>G (p.Thr1685Ser) c.1-44076C>G (n.1-44076C>G) c.4310C>G (p.Thr1437Ser) c.4856C>G (p.Thr1619Ser) c.4673C>G (p.Thr1558Ser) c.4394C>G (p.Thr1465Ser) c.3437C>G (p.Thr1146Ser) c.3428C>G (p.Thr1143Ser) | |
| 5 | g.37020502C>T | CA3236694 | NIPBL | c.5054C>T (p.Thr1685Ile) c.1-44076C>T (n.1-44076C>T) c.4310C>T (p.Thr1437Ile) c.4856C>T (p.Thr1619Ile) c.4673C>T (p.Thr1558Ile) c.4394C>T (p.Thr1465Ile) c.3437C>T (p.Thr1146Ile) c.3428C>T (p.Thr1143Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020503T>A | CA443904925 | NIPBL | c.5055T>A (p.Thr1685=) c.1-44075T>A (n.1-44075T>A) c.4311T>A (p.Thr1437=) c.4857T>A (p.Thr1619=) c.4674T>A (p.Thr1558=) c.4395T>A (p.Thr1465=) c.3438T>A (p.Thr1146=) c.3429T>A (p.Thr1143=) | |
| 5 | g.37020503T>C | CA443904926 | NIPBL | c.5055T>C (p.Thr1685=) c.1-44075T>C (n.1-44075T>C) c.4311T>C (p.Thr1437=) c.4857T>C (p.Thr1619=) c.4674T>C (p.Thr1558=) c.4395T>C (p.Thr1465=) c.3438T>C (p.Thr1146=) c.3429T>C (p.Thr1143=) | |
| 5 | g.37020503T>G | CA443904927 | NIPBL | c.5055T>G (p.Thr1685=) c.1-44075T>G (n.1-44075T>G) c.4311T>G (p.Thr1437=) c.4857T>G (p.Thr1619=) c.4674T>G (p.Thr1558=) c.4395T>G (p.Thr1465=) c.3438T>G (p.Thr1146=) c.3429T>G (p.Thr1143=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020503T= | CA1539619195 | NIPBL | c.5055T= (p.Thr1685=) c.1-44075T= (n.1-44075T=) c.4311T= (p.Thr1437=) c.4857T= (p.Thr1619=) c.4674T= (p.Thr1558=) c.4395T= (p.Thr1465=) c.3438T= (p.Thr1146=) c.3429T= (p.Thr1143=) | |
| 5 | g.37020504C>A | CA359486481 | NIPBL | c.5056C>A (p.Leu1686Met) c.1-44074C>A (n.1-44074C>A) c.4312C>A (p.Leu1438Met) c.4858C>A (p.Leu1620Met) c.4675C>A (p.Leu1559Met) c.4396C>A (p.Leu1466Met) c.3439C>A (p.Leu1147Met) c.3430C>A (p.Leu1144Met) | |
| 5 | g.37020504C= | CA1539619198 | NIPBL | c.5056C= (p.Leu1686=) c.1-44074C= (n.1-44074C=) c.4312C= (p.Leu1438=) c.4858C= (p.Leu1620=) c.4675C= (p.Leu1559=) c.4396C= (p.Leu1466=) c.3439C= (p.Leu1147=) c.3430C= (p.Leu1144=) | |
| 5 | g.37020504C>G | CA359486484 | NIPBL | c.5056C>G (p.Leu1686Val) c.1-44074C>G (n.1-44074C>G) c.4312C>G (p.Leu1438Val) c.4858C>G (p.Leu1620Val) c.4675C>G (p.Leu1559Val) c.4396C>G (p.Leu1466Val) c.3439C>G (p.Leu1147Val) c.3430C>G (p.Leu1144Val) | gnomAD v4 |
| 5 | g.37020504C>T | CA3236695 | NIPBL | c.5056C>T (p.Leu1686=) c.1-44074C>T (n.1-44074C>T) c.4312C>T (p.Leu1438=) c.4858C>T (p.Leu1620=) c.4675C>T (p.Leu1559=) c.4396C>T (p.Leu1466=) c.3439C>T (p.Leu1147=) c.3430C>T (p.Leu1144=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020505T>A | CA359486490 | NIPBL | c.5057T>A (p.Leu1686Gln) c.1-44073T>A (n.1-44073T>A) c.4313T>A (p.Leu1438Gln) c.4859T>A (p.Leu1620Gln) c.4676T>A (p.Leu1559Gln) c.4397T>A (p.Leu1466Gln) c.3440T>A (p.Leu1147Gln) c.3431T>A (p.Leu1144Gln) | |
| 5 | g.37020505T>C | CA359486493 | NIPBL | c.5057T>C (p.Leu1686Pro) c.1-44073T>C (n.1-44073T>C) c.4313T>C (p.Leu1438Pro) c.4859T>C (p.Leu1620Pro) c.4676T>C (p.Leu1559Pro) c.4397T>C (p.Leu1466Pro) c.3440T>C (p.Leu1147Pro) c.3431T>C (p.Leu1144Pro) | gnomAD v4 |
| 5 | g.37020505T>G | CA359486496 | NIPBL | c.5057T>G (p.Leu1686Arg) c.1-44073T>G (n.1-44073T>G) c.4313T>G (p.Leu1438Arg) c.4859T>G (p.Leu1620Arg) c.4676T>G (p.Leu1559Arg) c.4397T>G (p.Leu1466Arg) c.3440T>G (p.Leu1147Arg) c.3431T>G (p.Leu1144Arg) | |
| 5 | g.37020506G>A | CA443904933 | NIPBL | c.5058G>A (p.Leu1686=) c.1-44072G>A (n.1-44072G>A) c.4314G>A (p.Leu1438=) c.4860G>A (p.Leu1620=) c.4677G>A (p.Leu1559=) c.4398G>A (p.Leu1466=) c.3441G>A (p.Leu1147=) c.3432G>A (p.Leu1144=) | |
| 5 | g.37020506G>C | CA443904932 | NIPBL | c.5058G>C (p.Leu1686=) c.1-44072G>C (n.1-44072G>C) c.4314G>C (p.Leu1438=) c.4860G>C (p.Leu1620=) c.4677G>C (p.Leu1559=) c.4398G>C (p.Leu1466=) c.3441G>C (p.Leu1147=) c.3432G>C (p.Leu1144=) | |
| 5 | g.37020506G>T | CA443904931 | NIPBL | c.5058G>T (p.Leu1686=) c.1-44072G>T (n.1-44072G>T) c.4314G>T (p.Leu1438=) c.4860G>T (p.Leu1620=) c.4677G>T (p.Leu1559=) c.4398G>T (p.Leu1466=) c.3441G>T (p.Leu1147=) c.3432G>T (p.Leu1144=) | |
| 5 | g.37020507G>A | CA359486501 | NIPBL | c.5059G>A (p.Glu1687Lys) c.1-44071G>A (n.1-44071G>A) c.4315G>A (p.Glu1439Lys) c.4861G>A (p.Glu1621Lys) c.4678G>A (p.Glu1560Lys) c.4399G>A (p.Glu1467Lys) c.3442G>A (p.Glu1148Lys) c.3433G>A (p.Glu1145Lys) | |
| 5 | g.37020507G>C | CA359486505 | NIPBL | c.5059G>C (p.Glu1687Gln) c.1-44071G>C (n.1-44071G>C) c.4315G>C (p.Glu1439Gln) c.4861G>C (p.Glu1621Gln) c.4678G>C (p.Glu1560Gln) c.4399G>C (p.Glu1467Gln) c.3442G>C (p.Glu1148Gln) c.3433G>C (p.Glu1145Gln) | |
| 5 | g.37020507G>T | CA359486499 | NIPBL | c.5059G>T (p.Glu1687Ter) c.1-44071G>T (n.1-44071G>T) c.4315G>T (p.Glu1439Ter) c.4861G>T (p.Glu1621Ter) c.4678G>T (p.Glu1560Ter) c.4399G>T (p.Glu1467Ter) c.3442G>T (p.Glu1148Ter) c.3433G>T (p.Glu1145Ter) | |
| 5 | g.37020508A= | CA1539619201 | NIPBL | c.5060A= (p.Glu1687=) c.1-44070A= (n.1-44070A=) c.4316A= (p.Glu1439=) c.4862A= (p.Glu1621=) c.4679A= (p.Glu1560=) c.4400A= (p.Glu1467=) c.3443A= (p.Glu1148=) c.3434A= (p.Glu1145=) | |
| 5 | g.37020508A>C | CA359486508 | NIPBL | c.5060A>C (p.Glu1687Ala) c.1-44070A>C (n.1-44070A>C) c.4316A>C (p.Glu1439Ala) c.4862A>C (p.Glu1621Ala) c.4679A>C (p.Glu1560Ala) c.4400A>C (p.Glu1467Ala) c.3443A>C (p.Glu1148Ala) c.3434A>C (p.Glu1145Ala) | |
| 5 | g.37020508A>G | CA117027962 | NIPBL | c.5060A>G (p.Glu1687Gly) c.1-44070A>G (n.1-44070A>G) c.4316A>G (p.Glu1439Gly) c.4862A>G (p.Glu1621Gly) c.4679A>G (p.Glu1560Gly) c.4400A>G (p.Glu1467Gly) c.3443A>G (p.Glu1148Gly) c.3434A>G (p.Glu1145Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020508A>T | CA359486511 | NIPBL | c.5060A>T (p.Glu1687Val) c.1-44070A>T (n.1-44070A>T) c.4316A>T (p.Glu1439Val) c.4862A>T (p.Glu1621Val) c.4679A>T (p.Glu1560Val) c.4400A>T (p.Glu1467Val) c.3443A>T (p.Glu1148Val) c.3434A>T (p.Glu1145Val) | |
| 5 | g.37020509A= | CA1539619203 | NIPBL | c.5061A= (p.Glu1687=) c.1-44069A= (n.1-44069A=) c.4317A= (p.Glu1439=) c.4863A= (p.Glu1621=) c.4680A= (p.Glu1560=) c.4401A= (p.Glu1467=) c.3444A= (p.Glu1148=) c.3435A= (p.Glu1145=) | |
| 5 | g.37020509A>C | CA359486514 | NIPBL | c.5061A>C (p.Glu1687Asp) c.1-44069A>C (n.1-44069A>C) c.4317A>C (p.Glu1439Asp) c.4863A>C (p.Glu1621Asp) c.4680A>C (p.Glu1560Asp) c.4401A>C (p.Glu1467Asp) c.3444A>C (p.Glu1148Asp) c.3435A>C (p.Glu1145Asp) | |
| 5 | g.37020509A>G | CA443904935 | NIPBL | c.5061A>G (p.Glu1687=) c.1-44069A>G (n.1-44069A>G) c.4317A>G (p.Glu1439=) c.4863A>G (p.Glu1621=) c.4680A>G (p.Glu1560=) c.4401A>G (p.Glu1467=) c.3444A>G (p.Glu1148=) c.3435A>G (p.Glu1145=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020509A>T | CA359486517 | NIPBL | c.5061A>T (p.Glu1687Asp) c.1-44069A>T (n.1-44069A>T) c.4317A>T (p.Glu1439Asp) c.4863A>T (p.Glu1621Asp) c.4680A>T (p.Glu1560Asp) c.4401A>T (p.Glu1467Asp) c.3444A>T (p.Glu1148Asp) c.3435A>T (p.Glu1145Asp) | |
| 5 | g.37020510A= | CA1539619206 | NIPBL | c.5062A= (p.Thr1688=) c.1-44068A= (n.1-44068A=) c.4318A= (p.Thr1440=) c.4864A= (p.Thr1622=) c.4681A= (p.Thr1561=) c.4402A= (p.Thr1468=) c.3445A= (p.Thr1149=) c.3436A= (p.Thr1146=) | |
| 5 | g.37020510A>C | CA359486527 | NIPBL | c.5062A>C (p.Thr1688Pro) c.1-44068A>C (n.1-44068A>C) c.4318A>C (p.Thr1440Pro) c.4864A>C (p.Thr1622Pro) c.4681A>C (p.Thr1561Pro) c.4402A>C (p.Thr1468Pro) c.3445A>C (p.Thr1149Pro) c.3436A>C (p.Thr1146Pro) | |
| 5 | g.37020510A>G | CA359486524 | NIPBL | c.5062A>G (p.Thr1688Ala) c.1-44068A>G (n.1-44068A>G) c.4318A>G (p.Thr1440Ala) c.4864A>G (p.Thr1622Ala) c.4681A>G (p.Thr1561Ala) c.4402A>G (p.Thr1468Ala) c.3445A>G (p.Thr1149Ala) c.3436A>G (p.Thr1146Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020510A>T | CA359486521 | NIPBL | c.5062A>T (p.Thr1688Ser) c.1-44068A>T (n.1-44068A>T) c.4318A>T (p.Thr1440Ser) c.4864A>T (p.Thr1622Ser) c.4681A>T (p.Thr1561Ser) c.4402A>T (p.Thr1468Ser) c.3445A>T (p.Thr1149Ser) c.3436A>T (p.Thr1146Ser) | |
| 5 | g.37020511C>A | CA359486529 | NIPBL | c.5063C>A (p.Thr1688Lys) c.1-44067C>A (n.1-44067C>A) c.4319C>A (p.Thr1440Lys) c.4865C>A (p.Thr1622Lys) c.4682C>A (p.Thr1561Lys) c.4403C>A (p.Thr1468Lys) c.3446C>A (p.Thr1149Lys) c.3437C>A (p.Thr1146Lys) | |
| 5 | g.37020511C= | CA1539619210 | NIPBL | c.5063C= (p.Thr1688=) c.1-44067C= (n.1-44067C=) c.4319C= (p.Thr1440=) c.4865C= (p.Thr1622=) c.4682C= (p.Thr1561=) c.4403C= (p.Thr1468=) c.3446C= (p.Thr1149=) c.3437C= (p.Thr1146=) | |
| 5 | g.37020511C>G | CA359486532 | NIPBL | c.5063C>G (p.Thr1688Arg) c.1-44067C>G (n.1-44067C>G) c.4319C>G (p.Thr1440Arg) c.4865C>G (p.Thr1622Arg) c.4682C>G (p.Thr1561Arg) c.4403C>G (p.Thr1468Arg) c.3446C>G (p.Thr1149Arg) c.3437C>G (p.Thr1146Arg) | |
| 5 | g.37020511C>T | CA3236696 | NIPBL | c.5063C>T (p.Thr1688Ile) c.1-44067C>T (n.1-44067C>T) c.4319C>T (p.Thr1440Ile) c.4865C>T (p.Thr1622Ile) c.4682C>T (p.Thr1561Ile) c.4403C>T (p.Thr1468Ile) c.3446C>T (p.Thr1149Ile) c.3437C>T (p.Thr1146Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020512A>C | CA443904939 | NIPBL | c.5064A>C (p.Thr1688=) c.1-44066A>C (n.1-44066A>C) c.4320A>C (p.Thr1440=) c.4866A>C (p.Thr1622=) c.4683A>C (p.Thr1561=) c.4404A>C (p.Thr1468=) c.3447A>C (p.Thr1149=) c.3438A>C (p.Thr1146=) | |
| 5 | g.37020512A>G | CA443904940 | NIPBL | c.5064A>G (p.Thr1688=) c.1-44066A>G (n.1-44066A>G) c.4320A>G (p.Thr1440=) c.4866A>G (p.Thr1622=) c.4683A>G (p.Thr1561=) c.4404A>G (p.Thr1468=) c.3447A>G (p.Thr1149=) c.3438A>G (p.Thr1146=) | |
| 5 | g.37020512A>T | CA443904941 | NIPBL | c.5064A>T (p.Thr1688=) c.1-44066A>T (n.1-44066A>T) c.4320A>T (p.Thr1440=) c.4866A>T (p.Thr1622=) c.4683A>T (p.Thr1561=) c.4404A>T (p.Thr1468=) c.3447A>T (p.Thr1149=) c.3438A>T (p.Thr1146=) | |
| 5 | g.37020513G>A | CA359486538 | NIPBL | c.5065G>A (p.Glu1689Lys) c.1-44065G>A (n.1-44065G>A) c.4321G>A (p.Glu1441Lys) c.4867G>A (p.Glu1623Lys) c.4684G>A (p.Glu1562Lys) c.4405G>A (p.Glu1469Lys) c.3448G>A (p.Glu1150Lys) c.3439G>A (p.Glu1147Lys) | |
| 5 | g.37020513G>C | CA359486540 | NIPBL | c.5065G>C (p.Glu1689Gln) c.1-44065G>C (n.1-44065G>C) c.4321G>C (p.Glu1441Gln) c.4867G>C (p.Glu1623Gln) c.4684G>C (p.Glu1562Gln) c.4405G>C (p.Glu1469Gln) c.3448G>C (p.Glu1150Gln) c.3439G>C (p.Glu1147Gln) | |
| 5 | g.37020513G>T | CA359486543 | NIPBL | c.5065G>T (p.Glu1689Ter) c.1-44065G>T (n.1-44065G>T) c.4321G>T (p.Glu1441Ter) c.4867G>T (p.Glu1623Ter) c.4684G>T (p.Glu1562Ter) c.4405G>T (p.Glu1469Ter) c.3448G>T (p.Glu1150Ter) c.3439G>T (p.Glu1147Ter) | |
| 5 | g.37020514A>C | CA359486545 | NIPBL | c.5066A>C (p.Glu1689Ala) c.1-44064A>C (n.1-44064A>C) c.4322A>C (p.Glu1441Ala) c.4868A>C (p.Glu1623Ala) c.4685A>C (p.Glu1562Ala) c.4406A>C (p.Glu1469Ala) c.3449A>C (p.Glu1150Ala) c.3440A>C (p.Glu1147Ala) | |
| 5 | g.37020514A>G | CA359486551 | NIPBL | c.5066A>G (p.Glu1689Gly) c.1-44064A>G (n.1-44064A>G) c.4322A>G (p.Glu1441Gly) c.4868A>G (p.Glu1623Gly) c.4685A>G (p.Glu1562Gly) c.4406A>G (p.Glu1469Gly) c.3449A>G (p.Glu1150Gly) c.3440A>G (p.Glu1147Gly) | |
| 5 | g.37020514A>T | CA359486548 | NIPBL | c.5066A>T (p.Glu1689Val) c.1-44064A>T (n.1-44064A>T) c.4322A>T (p.Glu1441Val) c.4868A>T (p.Glu1623Val) c.4685A>T (p.Glu1562Val) c.4406A>T (p.Glu1469Val) c.3449A>T (p.Glu1150Val) c.3440A>T (p.Glu1147Val) | |
| 5 | g.37020515A= | CA1539619213 | NIPBL | c.5067A= (p.Glu1689=) c.1-44063A= (n.1-44063A=) c.4323A= (p.Glu1441=) c.4869A= (p.Glu1623=) c.4686A= (p.Glu1562=) c.4407A= (p.Glu1469=) c.3450A= (p.Glu1150=) c.3441A= (p.Glu1147=) | |
| 5 | g.37020515A>C | CA359486553 | NIPBL | c.5067A>C (p.Glu1689Asp) c.1-44063A>C (n.1-44063A>C) c.4323A>C (p.Glu1441Asp) c.4869A>C (p.Glu1623Asp) c.4686A>C (p.Glu1562Asp) c.4407A>C (p.Glu1469Asp) c.3450A>C (p.Glu1150Asp) c.3441A>C (p.Glu1147Asp) | |
| 5 | g.37020515A>G | CA3236697 | NIPBL | c.5067A>G (p.Glu1689=) c.1-44063A>G (n.1-44063A>G) c.4323A>G (p.Glu1441=) c.4869A>G (p.Glu1623=) c.4686A>G (p.Glu1562=) c.4407A>G (p.Glu1469=) c.3450A>G (p.Glu1150=) c.3441A>G (p.Glu1147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020515A>T | CA359486555 | NIPBL | c.5067A>T (p.Glu1689Asp) c.1-44063A>T (n.1-44063A>T) c.4323A>T (p.Glu1441Asp) c.4869A>T (p.Glu1623Asp) c.4686A>T (p.Glu1562Asp) c.4407A>T (p.Glu1469Asp) c.3450A>T (p.Glu1150Asp) c.3441A>T (p.Glu1147Asp) | |
| 5 | g.37020516A>C | CA359486558 | NIPBL | c.5068A>C (p.Lys1690Gln) c.1-44062A>C (n.1-44062A>C) c.4324A>C (p.Lys1442Gln) c.4870A>C (p.Lys1624Gln) c.4687A>C (p.Lys1563Gln) c.4408A>C (p.Lys1470Gln) c.3451A>C (p.Lys1151Gln) c.3442A>C (p.Lys1148Gln) | |
| 5 | g.37020516A>G | CA359486561 | NIPBL | c.5068A>G (p.Lys1690Glu) c.1-44062A>G (n.1-44062A>G) c.4324A>G (p.Lys1442Glu) c.4870A>G (p.Lys1624Glu) c.4687A>G (p.Lys1563Glu) c.4408A>G (p.Lys1470Glu) c.3451A>G (p.Lys1151Glu) c.3442A>G (p.Lys1148Glu) | |
| 5 | g.37020516A>T | CA359486563 | NIPBL | c.5068A>T (p.Lys1690Ter) c.1-44062A>T (n.1-44062A>T) c.4324A>T (p.Lys1442Ter) c.4870A>T (p.Lys1624Ter) c.4687A>T (p.Lys1563Ter) c.4408A>T (p.Lys1470Ter) c.3451A>T (p.Lys1151Ter) c.3442A>T (p.Lys1148Ter) | |
| 5 | g.37020517A>C | CA359486567 | NIPBL | c.5069A>C (p.Lys1690Thr) c.1-44061A>C (n.1-44061A>C) c.4325A>C (p.Lys1442Thr) c.4871A>C (p.Lys1624Thr) c.4688A>C (p.Lys1563Thr) c.4409A>C (p.Lys1470Thr) c.3452A>C (p.Lys1151Thr) c.3443A>C (p.Lys1148Thr) | |
| 5 | g.37020517A>G | CA359486568 | NIPBL | c.5069A>G (p.Lys1690Arg) c.1-44061A>G (n.1-44061A>G) c.4325A>G (p.Lys1442Arg) c.4871A>G (p.Lys1624Arg) c.4688A>G (p.Lys1563Arg) c.4409A>G (p.Lys1470Arg) c.3452A>G (p.Lys1151Arg) c.3443A>G (p.Lys1148Arg) | COSMIC |
| 5 | g.37020517A>T | CA359486571 | NIPBL | c.5069A>T (p.Lys1690Ile) c.1-44061A>T (n.1-44061A>T) c.4325A>T (p.Lys1442Ile) c.4871A>T (p.Lys1624Ile) c.4688A>T (p.Lys1563Ile) c.4409A>T (p.Lys1470Ile) c.3452A>T (p.Lys1151Ile) c.3443A>T (p.Lys1148Ile) |