| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37049068del | CA2673582428 | NIPBL | c.6764-43del (n.6764-43del) c.1-15510del (n.1-15510del) c.6020-43del (n.6020-43del) c.6566-43del (n.6566-43del) c.6383-43del (n.6383-43del) c.6104-43del (n.6104-43del) c.5147-43del (n.5147-43del) c.5138-43del (n.5138-43del) | gnomAD v4 |
| 5 | g.37049068T>C | CA1075098002 | NIPBL | c.6764-43T>C (n.6764-43T>C) c.1-15510T>C (n.1-15510T>C) c.6020-43T>C (n.6020-43T>C) c.6566-43T>C (n.6566-43T>C) c.6383-43T>C (n.6383-43T>C) c.6104-43T>C (n.6104-43T>C) c.5147-43T>C (n.5147-43T>C) c.5138-43T>C (n.5138-43T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37049068T= | CA1539568229 | NIPBL | c.6764-43T= (n.6764-43T=) c.1-15510T= (n.1-15510T=) c.6020-43T= (n.6020-43T=) c.6566-43T= (n.6566-43T=) c.6383-43T= (n.6383-43T=) c.6104-43T= (n.6104-43T=) c.5147-43T= (n.5147-43T=) c.5138-43T= (n.5138-43T=) | |
| 5 | g.37049070G>A | CA1539568234 | NIPBL | c.6764-41G>A (n.6764-41G>A) c.1-15508G>A (n.1-15508G>A) c.6020-41G>A (n.6020-41G>A) c.6566-41G>A (n.6566-41G>A) c.6383-41G>A (n.6383-41G>A) c.6104-41G>A (n.6104-41G>A) c.5147-41G>A (n.5147-41G>A) c.5138-41G>A (n.5138-41G>A) | dbSNP |
| 5 | g.37049070G>C | CA2578289702 | NIPBL | c.6764-41G>C (n.6764-41G>C) c.1-15508G>C (n.1-15508G>C) c.6020-41G>C (n.6020-41G>C) c.6566-41G>C (n.6566-41G>C) c.6383-41G>C (n.6383-41G>C) c.6104-41G>C (n.6104-41G>C) c.5147-41G>C (n.5147-41G>C) c.5138-41G>C (n.5138-41G>C) | |
| 5 | g.37049070G= | CA1539568231 | NIPBL | c.6764-41G= (n.6764-41G=) c.1-15508G= (n.1-15508G=) c.6020-41G= (n.6020-41G=) c.6566-41G= (n.6566-41G=) c.6383-41G= (n.6383-41G=) c.6104-41G= (n.6104-41G=) c.5147-41G= (n.5147-41G=) c.5138-41G= (n.5138-41G=) | |
| 5 | g.37049071G>A | CA1539568244 | NIPBL | c.6764-40G>A (n.6764-40G>A) c.1-15507G>A (n.1-15507G>A) c.6020-40G>A (n.6020-40G>A) c.6566-40G>A (n.6566-40G>A) c.6383-40G>A (n.6383-40G>A) c.6104-40G>A (n.6104-40G>A) c.5147-40G>A (n.5147-40G>A) c.5138-40G>A (n.5138-40G>A) | dbSNP |
| 5 | g.37049071G= | CA1539568240 | NIPBL | c.6764-40G= (n.6764-40G=) c.1-15507G= (n.1-15507G=) c.6020-40G= (n.6020-40G=) c.6566-40G= (n.6566-40G=) c.6383-40G= (n.6383-40G=) c.6104-40G= (n.6104-40G=) c.5147-40G= (n.5147-40G=) c.5138-40G= (n.5138-40G=) | |
| 5 | g.37049071G>T | CA3237065 | NIPBL | c.6764-40G>T (n.6764-40G>T) c.1-15507G>T (n.1-15507G>T) c.6020-40G>T (n.6020-40G>T) c.6566-40G>T (n.6566-40G>T) c.6383-40G>T (n.6383-40G>T) c.6104-40G>T (n.6104-40G>T) c.5147-40G>T (n.5147-40G>T) c.5138-40G>T (n.5138-40G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049072T>G | CA2673582429 | NIPBL | c.6764-39T>G (n.6764-39T>G) c.1-15506T>G (n.1-15506T>G) c.6020-39T>G (n.6020-39T>G) c.6566-39T>G (n.6566-39T>G) c.6383-39T>G (n.6383-39T>G) c.6104-39T>G (n.6104-39T>G) c.5147-39T>G (n.5147-39T>G) c.5138-39T>G (n.5138-39T>G) | gnomAD v4 |
| 5 | g.37049073G= | CA1539568249 | NIPBL | c.6764-38G= (n.6764-38G=) c.1-15505G= (n.1-15505G=) c.6020-38G= (n.6020-38G=) c.6566-38G= (n.6566-38G=) c.6383-38G= (n.6383-38G=) c.6104-38G= (n.6104-38G=) c.5147-38G= (n.5147-38G=) c.5138-38G= (n.5138-38G=) | |
| 5 | g.37049073G>T | CA559021900 | NIPBL | c.6764-38G>T (n.6764-38G>T) c.1-15505G>T (n.1-15505G>T) c.6020-38G>T (n.6020-38G>T) c.6566-38G>T (n.6566-38G>T) c.6383-38G>T (n.6383-38G>T) c.6104-38G>T (n.6104-38G>T) c.5147-38G>T (n.5147-38G>T) c.5138-38G>T (n.5138-38G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049074C>A | CA2673582430 | NIPBL | c.6764-37C>A (n.6764-37C>A) c.1-15504C>A (n.1-15504C>A) c.6020-37C>A (n.6020-37C>A) c.6566-37C>A (n.6566-37C>A) c.6383-37C>A (n.6383-37C>A) c.6104-37C>A (n.6104-37C>A) c.5147-37C>A (n.5147-37C>A) c.5138-37C>A (n.5138-37C>A) | gnomAD v4 |
| 5 | g.37049074C= | CA1539568252 | NIPBL | c.6764-37C= (n.6764-37C=) c.1-15504C= (n.1-15504C=) c.6020-37C= (n.6020-37C=) c.6566-37C= (n.6566-37C=) c.6383-37C= (n.6383-37C=) c.6104-37C= (n.6104-37C=) c.5147-37C= (n.5147-37C=) c.5138-37C= (n.5138-37C=) | |
| 5 | g.37049074C>T | CA1539568251 | NIPBL | c.6764-37C>T (n.6764-37C>T) c.1-15504C>T (n.1-15504C>T) c.6020-37C>T (n.6020-37C>T) c.6566-37C>T (n.6566-37C>T) c.6383-37C>T (n.6383-37C>T) c.6104-37C>T (n.6104-37C>T) c.5147-37C>T (n.5147-37C>T) c.5138-37C>T (n.5138-37C>T) | dbSNP |
| 5 | g.37049076_37049077del | CA2578289705 | NIPBL | c.6764-35_6764-34del (n.6764-35_6764-34del) c.1-15502_1-15501del (n.1-15502_1-15501del) c.6020-35_6020-34del (n.6020-35_6020-34del) c.6566-35_6566-34del (n.6566-35_6566-34del) c.6383-35_6383-34del (n.6383-35_6383-34del) c.6104-35_6104-34del (n.6104-35_6104-34del) c.5147-35_5147-34del (n.5147-35_5147-34del) c.5138-35_5138-34del (n.5138-35_5138-34del) | gnomAD v4 |
| 5 | g.37049075T>A | CA559021902 | NIPBL | c.6764-36T>A (n.6764-36T>A) c.1-15503T>A (n.1-15503T>A) c.6020-36T>A (n.6020-36T>A) c.6566-36T>A (n.6566-36T>A) c.6383-36T>A (n.6383-36T>A) c.6104-36T>A (n.6104-36T>A) c.5147-36T>A (n.5147-36T>A) c.5138-36T>A (n.5138-36T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049075T>C | CA559021904 | NIPBL | c.6764-36T>C (n.6764-36T>C) c.1-15503T>C (n.1-15503T>C) c.6020-36T>C (n.6020-36T>C) c.6566-36T>C (n.6566-36T>C) c.6383-36T>C (n.6383-36T>C) c.6104-36T>C (n.6104-36T>C) c.5147-36T>C (n.5147-36T>C) c.5138-36T>C (n.5138-36T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049075T= | CA1539568254 | NIPBL | c.6764-36T= (n.6764-36T=) c.1-15503T= (n.1-15503T=) c.6020-36T= (n.6020-36T=) c.6566-36T= (n.6566-36T=) c.6383-36T= (n.6383-36T=) c.6104-36T= (n.6104-36T=) c.5147-36T= (n.5147-36T=) c.5138-36T= (n.5138-36T=) | |
| 5 | g.37049076C>A | CA2673582431 | NIPBL | c.6764-35C>A (n.6764-35C>A) c.1-15502C>A (n.1-15502C>A) c.6020-35C>A (n.6020-35C>A) c.6566-35C>A (n.6566-35C>A) c.6383-35C>A (n.6383-35C>A) c.6104-35C>A (n.6104-35C>A) c.5147-35C>A (n.5147-35C>A) c.5138-35C>A (n.5138-35C>A) | gnomAD v4 |
| 5 | g.37049076C= | CA1539568256 | NIPBL | c.6764-35C= (n.6764-35C=) c.1-15502C= (n.1-15502C=) c.6020-35C= (n.6020-35C=) c.6566-35C= (n.6566-35C=) c.6383-35C= (n.6383-35C=) c.6104-35C= (n.6104-35C=) c.5147-35C= (n.5147-35C=) c.5138-35C= (n.5138-35C=) | |
| 5 | g.37049076C>G | CA3237066 | NIPBL | c.6764-35C>G (n.6764-35C>G) c.1-15502C>G (n.1-15502C>G) c.6020-35C>G (n.6020-35C>G) c.6566-35C>G (n.6566-35C>G) c.6383-35C>G (n.6383-35C>G) c.6104-35C>G (n.6104-35C>G) c.5147-35C>G (n.5147-35C>G) c.5138-35C>G (n.5138-35C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049076C>T | CA810305490 | NIPBL | c.6764-35C>T (n.6764-35C>T) c.1-15502C>T (n.1-15502C>T) c.6020-35C>T (n.6020-35C>T) c.6566-35C>T (n.6566-35C>T) c.6383-35C>T (n.6383-35C>T) c.6104-35C>T (n.6104-35C>T) c.5147-35C>T (n.5147-35C>T) c.5138-35C>T (n.5138-35C>T) | dbSNP |
| 5 | g.37049077T>C | CA117049174 | NIPBL | c.6764-34T>C (n.6764-34T>C) c.1-15501T>C (n.1-15501T>C) c.6020-34T>C (n.6020-34T>C) c.6566-34T>C (n.6566-34T>C) c.6383-34T>C (n.6383-34T>C) c.6104-34T>C (n.6104-34T>C) c.5147-34T>C (n.5147-34T>C) c.5138-34T>C (n.5138-34T>C) | dbSNP |
| 5 | g.37049077T= | CA1539568259 | NIPBL | c.6764-34T= (n.6764-34T=) c.1-15501T= (n.1-15501T=) c.6020-34T= (n.6020-34T=) c.6566-34T= (n.6566-34T=) c.6383-34T= (n.6383-34T=) c.6104-34T= (n.6104-34T=) c.5147-34T= (n.5147-34T=) c.5138-34T= (n.5138-34T=) | |
| 5 | g.37049079A= | CA1539568260 | NIPBL | c.6764-32A= (n.6764-32A=) c.1-15499A= (n.1-15499A=) c.6020-32A= (n.6020-32A=) c.6566-32A= (n.6566-32A=) c.6383-32A= (n.6383-32A=) c.6104-32A= (n.6104-32A=) c.5147-32A= (n.5147-32A=) c.5138-32A= (n.5138-32A=) | |
| 5 | g.37049079A>C | CA117049175 | NIPBL | c.6764-32A>C (n.6764-32A>C) c.1-15499A>C (n.1-15499A>C) c.6020-32A>C (n.6020-32A>C) c.6566-32A>C (n.6566-32A>C) c.6383-32A>C (n.6383-32A>C) c.6104-32A>C (n.6104-32A>C) c.5147-32A>C (n.5147-32A>C) c.5138-32A>C (n.5138-32A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37049080A= | CA1539568262 | NIPBL | c.6764-31A= (n.6764-31A=) c.1-15498A= (n.1-15498A=) c.6020-31A= (n.6020-31A=) c.6566-31A= (n.6566-31A=) c.6383-31A= (n.6383-31A=) c.6104-31A= (n.6104-31A=) c.5147-31A= (n.5147-31A=) c.5138-31A= (n.5138-31A=) | |
| 5 | g.37049080A>G | CA3237067 | NIPBL | c.6764-31A>G (n.6764-31A>G) c.1-15498A>G (n.1-15498A>G) c.6020-31A>G (n.6020-31A>G) c.6566-31A>G (n.6566-31A>G) c.6383-31A>G (n.6383-31A>G) c.6104-31A>G (n.6104-31A>G) c.5147-31A>G (n.5147-31A>G) c.5138-31A>G (n.5138-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049084G>A | CA3237068 | NIPBL | c.6764-27G>A (n.6764-27G>A) c.1-15494G>A (n.1-15494G>A) c.6020-27G>A (n.6020-27G>A) c.6566-27G>A (n.6566-27G>A) c.6383-27G>A (n.6383-27G>A) c.6104-27G>A (n.6104-27G>A) c.5147-27G>A (n.5147-27G>A) c.5138-27G>A (n.5138-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049084G= | CA1539568263 | NIPBL | c.6764-27G= (n.6764-27G=) c.1-15494G= (n.1-15494G=) c.6020-27G= (n.6020-27G=) c.6566-27G= (n.6566-27G=) c.6383-27G= (n.6383-27G=) c.6104-27G= (n.6104-27G=) c.5147-27G= (n.5147-27G=) c.5138-27G= (n.5138-27G=) | |
| 5 | g.37049084G>T | CA2673582432 | NIPBL | c.6764-27G>T (n.6764-27G>T) c.1-15494G>T (n.1-15494G>T) c.6020-27G>T (n.6020-27G>T) c.6566-27G>T (n.6566-27G>T) c.6383-27G>T (n.6383-27G>T) c.6104-27G>T (n.6104-27G>T) c.5147-27G>T (n.5147-27G>T) c.5138-27G>T (n.5138-27G>T) | gnomAD v4 |
| 5 | g.37049086G>A | CA1075098008 | NIPBL | c.6764-25G>A (n.6764-25G>A) c.1-15492G>A (n.1-15492G>A) c.6020-25G>A (n.6020-25G>A) c.6566-25G>A (n.6566-25G>A) c.6383-25G>A (n.6383-25G>A) c.6104-25G>A (n.6104-25G>A) c.5147-25G>A (n.5147-25G>A) c.5138-25G>A (n.5138-25G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37049086G= | CA1539568266 | NIPBL | c.6764-25G= (n.6764-25G=) c.1-15492G= (n.1-15492G=) c.6020-25G= (n.6020-25G=) c.6566-25G= (n.6566-25G=) c.6383-25G= (n.6383-25G=) c.6104-25G= (n.6104-25G=) c.5147-25G= (n.5147-25G=) c.5138-25G= (n.5138-25G=) | |
| 5 | g.37049087T>C | CA117049176 | NIPBL | c.6764-24T>C (n.6764-24T>C) c.1-15491T>C (n.1-15491T>C) c.6020-24T>C (n.6020-24T>C) c.6566-24T>C (n.6566-24T>C) c.6383-24T>C (n.6383-24T>C) c.6104-24T>C (n.6104-24T>C) c.5147-24T>C (n.5147-24T>C) c.5138-24T>C (n.5138-24T>C) | dbSNP |
| 5 | g.37049087T= | CA1539568268 | NIPBL | c.6764-24T= (n.6764-24T=) c.1-15491T= (n.1-15491T=) c.6020-24T= (n.6020-24T=) c.6566-24T= (n.6566-24T=) c.6383-24T= (n.6383-24T=) c.6104-24T= (n.6104-24T=) c.5147-24T= (n.5147-24T=) c.5138-24T= (n.5138-24T=) | |
| 5 | g.37049090A= | CA1539568269 | NIPBL | c.6764-21A= (n.6764-21A=) c.1-15488A= (n.1-15488A=) c.6020-21A= (n.6020-21A=) c.6566-21A= (n.6566-21A=) c.6383-21A= (n.6383-21A=) c.6104-21A= (n.6104-21A=) c.5147-21A= (n.5147-21A=) c.5138-21A= (n.5138-21A=) | |
| 5 | g.37049090A>G | CA559021906 | NIPBL | c.6764-21A>G (n.6764-21A>G) c.1-15488A>G (n.1-15488A>G) c.6020-21A>G (n.6020-21A>G) c.6566-21A>G (n.6566-21A>G) c.6383-21A>G (n.6383-21A>G) c.6104-21A>G (n.6104-21A>G) c.5147-21A>G (n.5147-21A>G) c.5138-21A>G (n.5138-21A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049090A>T | CA2673582433 | NIPBL | c.6764-21A>T (n.6764-21A>T) c.1-15488A>T (n.1-15488A>T) c.6020-21A>T (n.6020-21A>T) c.6566-21A>T (n.6566-21A>T) c.6383-21A>T (n.6383-21A>T) c.6104-21A>T (n.6104-21A>T) c.5147-21A>T (n.5147-21A>T) c.5138-21A>T (n.5138-21A>T) | gnomAD v4 |
| 5 | g.37049092C= | CA1539568273 | NIPBL | c.6764-19C= (n.6764-19C=) c.1-15486C= (n.1-15486C=) c.6020-19C= (n.6020-19C=) c.6566-19C= (n.6566-19C=) c.6383-19C= (n.6383-19C=) c.6104-19C= (n.6104-19C=) c.5147-19C= (n.5147-19C=) c.5138-19C= (n.5138-19C=) | |
| 5 | g.37049092C>G | CA1075098012 | NIPBL | c.6764-19C>G (n.6764-19C>G) c.1-15486C>G (n.1-15486C>G) c.6020-19C>G (n.6020-19C>G) c.6566-19C>G (n.6566-19C>G) c.6383-19C>G (n.6383-19C>G) c.6104-19C>G (n.6104-19C>G) c.5147-19C>G (n.5147-19C>G) c.5138-19C>G (n.5138-19C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37049092C>T | CA3237069 | NIPBL | c.6764-19C>T (n.6764-19C>T) c.1-15486C>T (n.1-15486C>T) c.6020-19C>T (n.6020-19C>T) c.6566-19C>T (n.6566-19C>T) c.6383-19C>T (n.6383-19C>T) c.6104-19C>T (n.6104-19C>T) c.5147-19C>T (n.5147-19C>T) c.5138-19C>T (n.5138-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37049093_37049094delinsCT | CA1539568276 | NIPBL | c.6764-18_6764-17delinsCT (n.6764-18_6764-17delinsCT) c.1-15485_1-15484delinsCT (n.1-15485_1-15484delinsCT) c.6020-18_6020-17delinsCT (n.6020-18_6020-17delinsCT) c.6566-18_6566-17delinsCT (n.6566-18_6566-17delinsCT) c.6383-18_6383-17delinsCT (n.6383-18_6383-17delinsCT) c.6104-18_6104-17delinsCT (n.6104-18_6104-17delinsCT) c.5147-18_5147-17delinsCT (n.5147-18_5147-17delinsCT) c.5138-18_5138-17delinsCT (n.5138-18_5138-17delinsCT) | |
| 5 | g.37049096del | CA3237070 | NIPBL | c.6764-15del (n.6764-15del) c.1-15482del (n.1-15482del) c.6020-15del (n.6020-15del) c.6566-15del (n.6566-15del) c.6383-15del (n.6383-15del) c.6104-15del (n.6104-15del) c.5147-15del (n.5147-15del) c.5138-15del (n.5138-15del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37049095T>C | CA1075098014 | NIPBL | c.6764-16T>C (n.6764-16T>C) c.1-15483T>C (n.1-15483T>C) c.6020-16T>C (n.6020-16T>C) c.6566-16T>C (n.6566-16T>C) c.6383-16T>C (n.6383-16T>C) c.6104-16T>C (n.6104-16T>C) c.5147-16T>C (n.5147-16T>C) c.5138-16T>C (n.5138-16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37049095T= | CA1539568279 | NIPBL | c.6764-16T= (n.6764-16T=) c.1-15483T= (n.1-15483T=) c.6020-16T= (n.6020-16T=) c.6566-16T= (n.6566-16T=) c.6383-16T= (n.6383-16T=) c.6104-16T= (n.6104-16T=) c.5147-16T= (n.5147-16T=) c.5138-16T= (n.5138-16T=) | |
| 5 | g.37049096T>C | CA3237071 | NIPBL | c.6764-15T>C (n.6764-15T>C) c.1-15482T>C (n.1-15482T>C) c.6020-15T>C (n.6020-15T>C) c.6566-15T>C (n.6566-15T>C) c.6383-15T>C (n.6383-15T>C) c.6104-15T>C (n.6104-15T>C) c.5147-15T>C (n.5147-15T>C) c.5138-15T>C (n.5138-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37049096T>G | CA2708258855 | NIPBL | c.6764-15T>G (n.6764-15T>G) c.1-15482T>G (n.1-15482T>G) c.6020-15T>G (n.6020-15T>G) c.6566-15T>G (n.6566-15T>G) c.6383-15T>G (n.6383-15T>G) c.6104-15T>G (n.6104-15T>G) c.5147-15T>G (n.5147-15T>G) c.5138-15T>G (n.5138-15T>G) | dbSNP |
| 5 | g.37049096T= | CA1539568295 | NIPBL | c.6764-15T= (n.6764-15T=) c.1-15482T= (n.1-15482T=) c.6020-15T= (n.6020-15T=) c.6566-15T= (n.6566-15T=) c.6383-15T= (n.6383-15T=) c.6104-15T= (n.6104-15T=) c.5147-15T= (n.5147-15T=) c.5138-15T= (n.5138-15T=) | |
| 5 | g.37049101G>A | CA2739274662 | NIPBL | c.6764-10G>A (n.6764-10G>A) c.1-15477G>A (n.1-15477G>A) c.6020-10G>A (n.6020-10G>A) c.6566-10G>A (n.6566-10G>A) c.6383-10G>A (n.6383-10G>A) c.6104-10G>A (n.6104-10G>A) c.5147-10G>A (n.5147-10G>A) c.5138-10G>A (n.5138-10G>A) | ClinVar |
| 5 | g.37049102C>G | CA2673582434 | NIPBL | c.6764-9C>G (n.6764-9C>G) c.1-15476C>G (n.1-15476C>G) c.6020-9C>G (n.6020-9C>G) c.6566-9C>G (n.6566-9C>G) c.6383-9C>G (n.6383-9C>G) c.6104-9C>G (n.6104-9C>G) c.5147-9C>G (n.5147-9C>G) c.5138-9C>G (n.5138-9C>G) | gnomAD v4 |
| 5 | g.37049103T>G | CA2578289713 | NIPBL | c.6764-8T>G (n.6764-8T>G) c.1-15475T>G (n.1-15475T>G) c.6020-8T>G (n.6020-8T>G) c.6566-8T>G (n.6566-8T>G) c.6383-8T>G (n.6383-8T>G) c.6104-8T>G (n.6104-8T>G) c.5147-8T>G (n.5147-8T>G) c.5138-8T>G (n.5138-8T>G) | |
| 5 | g.37049106dup | CA2673582435 | NIPBL | c.6764-5dup (n.6764-5dup) c.1-15472dup (n.1-15472dup) c.6020-5dup (n.6020-5dup) c.6566-5dup (n.6566-5dup) c.6383-5dup (n.6383-5dup) c.6104-5dup (n.6104-5dup) c.5147-5dup (n.5147-5dup) c.5138-5dup (n.5138-5dup) | gnomAD v4 |
| 5 | g.37049106del | CA2673582436 | NIPBL | c.6764-5del (n.6764-5del) c.1-15472del (n.1-15472del) c.6020-5del (n.6020-5del) c.6566-5del (n.6566-5del) c.6383-5del (n.6383-5del) c.6104-5del (n.6104-5del) c.5147-5del (n.5147-5del) c.5138-5del (n.5138-5del) | gnomAD v4 |
| 5 | g.37049105T>C | CA559021907 | NIPBL | c.6764-6T>C (n.6764-6T>C) c.1-15473T>C (n.1-15473T>C) c.6020-6T>C (n.6020-6T>C) c.6566-6T>C (n.6566-6T>C) c.6383-6T>C (n.6383-6T>C) c.6104-6T>C (n.6104-6T>C) c.5147-6T>C (n.5147-6T>C) c.5138-6T>C (n.5138-6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049105T= | CA1539568298 | NIPBL | c.6764-6T= (n.6764-6T=) c.1-15473T= (n.1-15473T=) c.6020-6T= (n.6020-6T=) c.6566-6T= (n.6566-6T=) c.6383-6T= (n.6383-6T=) c.6104-6T= (n.6104-6T=) c.5147-6T= (n.5147-6T=) c.5138-6T= (n.5138-6T=) | |
| 5 | g.37049107G>A | CA3237072 | NIPBL | c.6764-4G>A (n.6764-4G>A) c.1-15471G>A (n.1-15471G>A) c.6020-4G>A (n.6020-4G>A) c.6566-4G>A (n.6566-4G>A) c.6383-4G>A (n.6383-4G>A) c.6104-4G>A (n.6104-4G>A) c.5147-4G>A (n.5147-4G>A) c.5138-4G>A (n.5138-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37049107G>C | CA16604904 | NIPBL | c.6764-4G>C (n.6764-4G>C) c.1-15471G>C (n.1-15471G>C) c.6020-4G>C (n.6020-4G>C) c.6566-4G>C (n.6566-4G>C) c.6383-4G>C (n.6383-4G>C) c.6104-4G>C (n.6104-4G>C) c.5147-4G>C (n.5147-4G>C) c.5138-4G>C (n.5138-4G>C) | ClinVar dbSNP gnomAD v2 |
| 5 | g.37049107G= | CA1539568305 | NIPBL | c.6764-4G= (n.6764-4G=) c.1-15471G= (n.1-15471G=) c.6020-4G= (n.6020-4G=) c.6566-4G= (n.6566-4G=) c.6383-4G= (n.6383-4G=) c.6104-4G= (n.6104-4G=) c.5147-4G= (n.5147-4G=) c.5138-4G= (n.5138-4G=) | |
| 5 | g.37049108dup | CA2673582437 | NIPBL | c.6764-3dup (n.6764-3dup) c.1-15470dup (n.1-15470dup) c.6020-3dup (n.6020-3dup) c.6566-3dup (n.6566-3dup) c.6383-3dup (n.6383-3dup) c.6104-3dup (n.6104-3dup) c.5147-3dup (n.5147-3dup) c.5138-3dup (n.5138-3dup) | gnomAD v4 |
| 5 | g.37049109A>C | CA359508673 | NIPBL | c.6764-2A>C (n.6764-2A>C) c.1-15469A>C (n.1-15469A>C) c.6020-2A>C (n.6020-2A>C) c.6566-2A>C (n.6566-2A>C) c.6383-2A>C (n.6383-2A>C) c.6104-2A>C (n.6104-2A>C) c.5147-2A>C (n.5147-2A>C) c.5138-2A>C (n.5138-2A>C) | |
| 5 | g.37049109A>G | CA359508674 | NIPBL | c.6764-2A>G (n.6764-2A>G) c.1-15469A>G (n.1-15469A>G) c.6020-2A>G (n.6020-2A>G) c.6566-2A>G (n.6566-2A>G) c.6383-2A>G (n.6383-2A>G) c.6104-2A>G (n.6104-2A>G) c.5147-2A>G (n.5147-2A>G) c.5138-2A>G (n.5138-2A>G) | |
| 5 | g.37049109A>T | CA359508675 | NIPBL | c.6764-2A>T (n.6764-2A>T) c.1-15469A>T (n.1-15469A>T) c.6020-2A>T (n.6020-2A>T) c.6566-2A>T (n.6566-2A>T) c.6383-2A>T (n.6383-2A>T) c.6104-2A>T (n.6104-2A>T) c.5147-2A>T (n.5147-2A>T) c.5138-2A>T (n.5138-2A>T) | |
| 5 | g.37049110G>A | CA359508676 | NIPBL | c.6764-1G>A (n.6764-1G>A) c.1-15468G>A (n.1-15468G>A) c.6020-1G>A (n.6020-1G>A) c.6566-1G>A (n.6566-1G>A) c.6383-1G>A (n.6383-1G>A) c.6104-1G>A (n.6104-1G>A) c.5147-1G>A (n.5147-1G>A) c.5138-1G>A (n.5138-1G>A) | |
| 5 | g.37049110G>C | CA359508677 | NIPBL | c.6764-1G>C (n.6764-1G>C) c.1-15468G>C (n.1-15468G>C) c.6020-1G>C (n.6020-1G>C) c.6566-1G>C (n.6566-1G>C) c.6383-1G>C (n.6383-1G>C) c.6104-1G>C (n.6104-1G>C) c.5147-1G>C (n.5147-1G>C) c.5138-1G>C (n.5138-1G>C) | |
| 5 | g.37049110G>T | CA359508678 | NIPBL | c.6764-1G>T (n.6764-1G>T) c.1-15468G>T (n.1-15468G>T) c.6020-1G>T (n.6020-1G>T) c.6566-1G>T (n.6566-1G>T) c.6383-1G>T (n.6383-1G>T) c.6104-1G>T (n.6104-1G>T) c.5147-1G>T (n.5147-1G>T) c.5138-1G>T (n.5138-1G>T) | gnomAD v4 |
| 5 | g.37049111G>A | CA359508679 | NIPBL | c.6764G>A (p.Trp2255Ter) c.1-15467G>A (n.1-15467G>A) c.6020G>A (p.Trp2007Ter) c.6566G>A (p.Trp2189Ter) c.6383G>A (p.Trp2128Ter) c.6104G>A (p.Trp2035Ter) c.5147G>A (p.Trp1716Ter) c.5138G>A (p.Trp1713Ter) | |
| 5 | g.37049111G>C | CA359508680 | NIPBL | c.6764G>C (p.Trp2255Ser) c.1-15467G>C (n.1-15467G>C) c.6020G>C (p.Trp2007Ser) c.6566G>C (p.Trp2189Ser) c.6383G>C (p.Trp2128Ser) c.6104G>C (p.Trp2035Ser) c.5147G>C (p.Trp1716Ser) c.5138G>C (p.Trp1713Ser) | |
| 5 | g.37049111G>T | CA359508681 | NIPBL | c.6764G>T (p.Trp2255Leu) c.1-15467G>T (n.1-15467G>T) c.6020G>T (p.Trp2007Leu) c.6566G>T (p.Trp2189Leu) c.6383G>T (p.Trp2128Leu) c.6104G>T (p.Trp2035Leu) c.5147G>T (p.Trp1716Leu) c.5138G>T (p.Trp1713Leu) | |
| 5 | g.37049112G>A | CA359508682 | NIPBL | c.6765G>A (p.Trp2255Ter) c.1-15466G>A (n.1-15466G>A) c.6021G>A (p.Trp2007Ter) c.6567G>A (p.Trp2189Ter) c.6384G>A (p.Trp2128Ter) c.6105G>A (p.Trp2035Ter) c.5148G>A (p.Trp1716Ter) c.5139G>A (p.Trp1713Ter) | |
| 5 | g.37049112G>C | CA359508683 | NIPBL | c.6765G>C (p.Trp2255Cys) c.1-15466G>C (n.1-15466G>C) c.6021G>C (p.Trp2007Cys) c.6567G>C (p.Trp2189Cys) c.6384G>C (p.Trp2128Cys) c.6105G>C (p.Trp2035Cys) c.5148G>C (p.Trp1716Cys) c.5139G>C (p.Trp1713Cys) | |
| 5 | g.37049112G>T | CA359508684 | NIPBL | c.6765G>T (p.Trp2255Cys) c.1-15466G>T (n.1-15466G>T) c.6021G>T (p.Trp2007Cys) c.6567G>T (p.Trp2189Cys) c.6384G>T (p.Trp2128Cys) c.6105G>T (p.Trp2035Cys) c.5148G>T (p.Trp1716Cys) c.5139G>T (p.Trp1713Cys) | |
| 5 | g.37049113A>C | CA359508686 | NIPBL | c.6766A>C (p.Lys2256Gln) c.1-15465A>C (n.1-15465A>C) c.6022A>C (p.Lys2008Gln) c.6568A>C (p.Lys2190Gln) c.6385A>C (p.Lys2129Gln) c.6106A>C (p.Lys2036Gln) c.5149A>C (p.Lys1717Gln) c.5140A>C (p.Lys1714Gln) | |
| 5 | g.37049113A>G | CA359508687 | NIPBL | c.6766A>G (p.Lys2256Glu) c.1-15465A>G (n.1-15465A>G) c.6022A>G (p.Lys2008Glu) c.6568A>G (p.Lys2190Glu) c.6385A>G (p.Lys2129Glu) c.6106A>G (p.Lys2036Glu) c.5149A>G (p.Lys1717Glu) c.5140A>G (p.Lys1714Glu) | |
| 5 | g.37049113A>T | CA359508685 | NIPBL | c.6766A>T (p.Lys2256Ter) c.1-15465A>T (n.1-15465A>T) c.6022A>T (p.Lys2008Ter) c.6568A>T (p.Lys2190Ter) c.6385A>T (p.Lys2129Ter) c.6106A>T (p.Lys2036Ter) c.5149A>T (p.Lys1717Ter) c.5140A>T (p.Lys1714Ter) | |
| 5 | g.37049114A>C | CA359508688 | NIPBL | c.6767A>C (p.Lys2256Thr) c.1-15464A>C (n.1-15464A>C) c.6023A>C (p.Lys2008Thr) c.6569A>C (p.Lys2190Thr) c.6386A>C (p.Lys2129Thr) c.6107A>C (p.Lys2036Thr) c.5150A>C (p.Lys1717Thr) c.5141A>C (p.Lys1714Thr) | |
| 5 | g.37049114A>G | CA359508689 | NIPBL | c.6767A>G (p.Lys2256Arg) c.1-15464A>G (n.1-15464A>G) c.6023A>G (p.Lys2008Arg) c.6569A>G (p.Lys2190Arg) c.6386A>G (p.Lys2129Arg) c.6107A>G (p.Lys2036Arg) c.5150A>G (p.Lys1717Arg) c.5141A>G (p.Lys1714Arg) | gnomAD v4 |
| 5 | g.37049114A>T | CA359508690 | NIPBL | c.6767A>T (p.Lys2256Met) c.1-15464A>T (n.1-15464A>T) c.6023A>T (p.Lys2008Met) c.6569A>T (p.Lys2190Met) c.6386A>T (p.Lys2129Met) c.6107A>T (p.Lys2036Met) c.5150A>T (p.Lys1717Met) c.5141A>T (p.Lys1714Met) | |
| 5 | g.37049115G>A | CA443907705 | NIPBL | c.6768G>A (p.Lys2256=) c.1-15463G>A (n.1-15463G>A) c.6024G>A (p.Lys2008=) c.6570G>A (p.Lys2190=) c.6387G>A (p.Lys2129=) c.6108G>A (p.Lys2036=) c.5151G>A (p.Lys1717=) c.5142G>A (p.Lys1714=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049115G>C | CA359508691 | NIPBL | c.6768G>C (p.Lys2256Asn) c.1-15463G>C (n.1-15463G>C) c.6024G>C (p.Lys2008Asn) c.6570G>C (p.Lys2190Asn) c.6387G>C (p.Lys2129Asn) c.6108G>C (p.Lys2036Asn) c.5151G>C (p.Lys1717Asn) c.5142G>C (p.Lys1714Asn) | |
| 5 | g.37049115G= | CA1539568313 | NIPBL | c.6768G= (p.Lys2256=) c.1-15463G= (n.1-15463G=) c.6024G= (p.Lys2008=) c.6570G= (p.Lys2190=) c.6387G= (p.Lys2129=) c.6108G= (p.Lys2036=) c.5151G= (p.Lys1717=) c.5142G= (p.Lys1714=) | |
| 5 | g.37049115G>T | CA359508692 | NIPBL | c.6768G>T (p.Lys2256Asn) c.1-15463G>T (n.1-15463G>T) c.6024G>T (p.Lys2008Asn) c.6570G>T (p.Lys2190Asn) c.6387G>T (p.Lys2129Asn) c.6108G>T (p.Lys2036Asn) c.5151G>T (p.Lys1717Asn) c.5142G>T (p.Lys1714Asn) | |
| 5 | g.37049116A= | CA1539568319 | NIPBL | c.6769A= (p.Lys2257=) c.1-15462A= (n.1-15462A=) c.6025A= (p.Lys2009=) c.6571A= (p.Lys2191=) c.6388A= (p.Lys2130=) c.6109A= (p.Lys2037=) c.5152A= (p.Lys1718=) c.5143A= (p.Lys1715=) | |
| 5 | g.37049116A>C | CA117049198 | NIPBL | c.6769A>C (p.Lys2257Gln) c.1-15462A>C (n.1-15462A>C) c.6025A>C (p.Lys2009Gln) c.6571A>C (p.Lys2191Gln) c.6388A>C (p.Lys2130Gln) c.6109A>C (p.Lys2037Gln) c.5152A>C (p.Lys1718Gln) c.5143A>C (p.Lys1715Gln) | dbSNP |
| 5 | g.37049116A>G | CA359508693 | NIPBL | c.6769A>G (p.Lys2257Glu) c.1-15462A>G (n.1-15462A>G) c.6025A>G (p.Lys2009Glu) c.6571A>G (p.Lys2191Glu) c.6388A>G (p.Lys2130Glu) c.6109A>G (p.Lys2037Glu) c.5152A>G (p.Lys1718Glu) c.5143A>G (p.Lys1715Glu) | ClinVar dbSNP |
| 5 | g.37049116A>T | CA359508694 | NIPBL | c.6769A>T (p.Lys2257Ter) c.1-15462A>T (n.1-15462A>T) c.6025A>T (p.Lys2009Ter) c.6571A>T (p.Lys2191Ter) c.6388A>T (p.Lys2130Ter) c.6109A>T (p.Lys2037Ter) c.5152A>T (p.Lys1718Ter) c.5143A>T (p.Lys1715Ter) | |
| 5 | g.37049117A>C | CA359508695 | NIPBL | c.6770A>C (p.Lys2257Thr) c.1-15461A>C (n.1-15461A>C) c.6026A>C (p.Lys2009Thr) c.6572A>C (p.Lys2191Thr) c.6389A>C (p.Lys2130Thr) c.6110A>C (p.Lys2037Thr) c.5153A>C (p.Lys1718Thr) c.5144A>C (p.Lys1715Thr) | |
| 5 | g.37049117A>G | CA359508696 | NIPBL | c.6770A>G (p.Lys2257Arg) c.1-15461A>G (n.1-15461A>G) c.6026A>G (p.Lys2009Arg) c.6572A>G (p.Lys2191Arg) c.6389A>G (p.Lys2130Arg) c.6110A>G (p.Lys2037Arg) c.5153A>G (p.Lys1718Arg) c.5144A>G (p.Lys1715Arg) | |
| 5 | g.37049117A>T | CA359508697 | NIPBL | c.6770A>T (p.Lys2257Ile) c.1-15461A>T (n.1-15461A>T) c.6026A>T (p.Lys2009Ile) c.6572A>T (p.Lys2191Ile) c.6389A>T (p.Lys2130Ile) c.6110A>T (p.Lys2037Ile) c.5153A>T (p.Lys1718Ile) c.5144A>T (p.Lys1715Ile) | |
| 5 | g.37049118A>C | CA359508698 | NIPBL | c.6771A>C (p.Lys2257Asn) c.1-15460A>C (n.1-15460A>C) c.6027A>C (p.Lys2009Asn) c.6573A>C (p.Lys2191Asn) c.6390A>C (p.Lys2130Asn) c.6111A>C (p.Lys2037Asn) c.5154A>C (p.Lys1718Asn) c.5145A>C (p.Lys1715Asn) | |
| 5 | g.37049118A>G | CA443907718 | NIPBL | c.6771A>G (p.Lys2257=) c.1-15460A>G (n.1-15460A>G) c.6027A>G (p.Lys2009=) c.6573A>G (p.Lys2191=) c.6390A>G (p.Lys2130=) c.6111A>G (p.Lys2037=) c.5154A>G (p.Lys1718=) c.5145A>G (p.Lys1715=) | |
| 5 | g.37049118A>T | CA359508699 | NIPBL | c.6771A>T (p.Lys2257Asn) c.1-15460A>T (n.1-15460A>T) c.6027A>T (p.Lys2009Asn) c.6573A>T (p.Lys2191Asn) c.6390A>T (p.Lys2130Asn) c.6111A>T (p.Lys2037Asn) c.5154A>T (p.Lys1718Asn) c.5145A>T (p.Lys1715Asn) | COSMIC COSMIC |
| 5 | g.37049119G>A | CA359508700 | NIPBL | c.6772G>A (p.Val2258Ile) c.1-15459G>A (n.1-15459G>A) c.6028G>A (p.Val2010Ile) c.6574G>A (p.Val2192Ile) c.6391G>A (p.Val2131Ile) c.6112G>A (p.Val2038Ile) c.5155G>A (p.Val1719Ile) c.5146G>A (p.Val1716Ile) | |
| 5 | g.37049119G>C | CA359508702 | NIPBL | c.6772G>C (p.Val2258Leu) c.1-15459G>C (n.1-15459G>C) c.6028G>C (p.Val2010Leu) c.6574G>C (p.Val2192Leu) c.6391G>C (p.Val2131Leu) c.6112G>C (p.Val2038Leu) c.5155G>C (p.Val1719Leu) c.5146G>C (p.Val1716Leu) | dbSNP |
| 5 | g.37049119G= | CA1539568331 | NIPBL | c.6772G= (p.Val2258=) c.1-15459G= (n.1-15459G=) c.6028G= (p.Val2010=) c.6574G= (p.Val2192=) c.6391G= (p.Val2131=) c.6112G= (p.Val2038=) c.5155G= (p.Val1719=) c.5146G= (p.Val1716=) | |
| 5 | g.37049119G>T | CA359508701 | NIPBL | c.6772G>T (p.Val2258Phe) c.1-15459G>T (n.1-15459G>T) c.6028G>T (p.Val2010Phe) c.6574G>T (p.Val2192Phe) c.6391G>T (p.Val2131Phe) c.6112G>T (p.Val2038Phe) c.5155G>T (p.Val1719Phe) c.5146G>T (p.Val1716Phe) | |
| 5 | g.37049120T>A | CA359508703 | NIPBL | c.6773T>A (p.Val2258Asp) c.1-15458T>A (n.1-15458T>A) c.6029T>A (p.Val2010Asp) c.6575T>A (p.Val2192Asp) c.6392T>A (p.Val2131Asp) c.6113T>A (p.Val2038Asp) c.5156T>A (p.Val1719Asp) c.5147T>A (p.Val1716Asp) | |
| 5 | g.37049120T>C | CA359508705 | NIPBL | c.6773T>C (p.Val2258Ala) c.1-15458T>C (n.1-15458T>C) c.6029T>C (p.Val2010Ala) c.6575T>C (p.Val2192Ala) c.6392T>C (p.Val2131Ala) c.6113T>C (p.Val2038Ala) c.5156T>C (p.Val1719Ala) c.5147T>C (p.Val1716Ala) | |
| 5 | g.37049120T>G | CA359508704 | NIPBL | c.6773T>G (p.Val2258Gly) c.1-15458T>G (n.1-15458T>G) c.6029T>G (p.Val2010Gly) c.6575T>G (p.Val2192Gly) c.6392T>G (p.Val2131Gly) c.6113T>G (p.Val2038Gly) c.5156T>G (p.Val1719Gly) c.5147T>G (p.Val1716Gly) | |
| 5 | g.37049121T>A | CA443907730 | NIPBL | c.6774T>A (p.Val2258=) c.1-15457T>A (n.1-15457T>A) c.6030T>A (p.Val2010=) c.6576T>A (p.Val2192=) c.6393T>A (p.Val2131=) c.6114T>A (p.Val2038=) c.5157T>A (p.Val1719=) c.5148T>A (p.Val1716=) | |
| 5 | g.37049121T>C | CA443907732 | NIPBL | c.6774T>C (p.Val2258=) c.1-15457T>C (n.1-15457T>C) c.6030T>C (p.Val2010=) c.6576T>C (p.Val2192=) c.6393T>C (p.Val2131=) c.6114T>C (p.Val2038=) c.5157T>C (p.Val1719=) c.5148T>C (p.Val1716=) | |
| 5 | g.37049121T>G | CA443907733 | NIPBL | c.6774T>G (p.Val2258=) c.1-15457T>G (n.1-15457T>G) c.6030T>G (p.Val2010=) c.6576T>G (p.Val2192=) c.6393T>G (p.Val2131=) c.6114T>G (p.Val2038=) c.5157T>G (p.Val1719=) c.5148T>G (p.Val1716=) | |
| 5 | g.37049122G>A | CA359508706 | NIPBL | c.6775G>A (p.Ala2259Thr) c.1-15456G>A (n.1-15456G>A) c.6031G>A (p.Ala2011Thr) c.6577G>A (p.Ala2193Thr) c.6394G>A (p.Ala2132Thr) c.6115G>A (p.Ala2039Thr) c.5158G>A (p.Ala1720Thr) c.5149G>A (p.Ala1717Thr) | |
| 5 | g.37049122G>C | CA359508708 | NIPBL | c.6775G>C (p.Ala2259Pro) c.1-15456G>C (n.1-15456G>C) c.6031G>C (p.Ala2011Pro) c.6577G>C (p.Ala2193Pro) c.6394G>C (p.Ala2132Pro) c.6115G>C (p.Ala2039Pro) c.5158G>C (p.Ala1720Pro) c.5149G>C (p.Ala1717Pro) | |
| 5 | g.37049122G= | CA1539568334 | NIPBL | c.6775G= (p.Ala2259=) c.1-15456G= (n.1-15456G=) c.6031G= (p.Ala2011=) c.6577G= (p.Ala2193=) c.6394G= (p.Ala2132=) c.6115G= (p.Ala2039=) c.5158G= (p.Ala1720=) c.5149G= (p.Ala1717=) | |
| 5 | g.37049122G>T | CA359508707 | NIPBL | c.6775G>T (p.Ala2259Ser) c.1-15456G>T (n.1-15456G>T) c.6031G>T (p.Ala2011Ser) c.6577G>T (p.Ala2193Ser) c.6394G>T (p.Ala2132Ser) c.6115G>T (p.Ala2039Ser) c.5158G>T (p.Ala1720Ser) c.5149G>T (p.Ala1717Ser) | dbSNP |
| 5 | g.37049123C>A | CA359508709 | NIPBL | c.6776C>A (p.Ala2259Glu) c.1-15455C>A (n.1-15455C>A) c.6032C>A (p.Ala2011Glu) c.6578C>A (p.Ala2193Glu) c.6395C>A (p.Ala2132Glu) c.6116C>A (p.Ala2039Glu) c.5159C>A (p.Ala1720Glu) c.5150C>A (p.Ala1717Glu) | |
| 5 | g.37049123C>G | CA359508710 | NIPBL | c.6776C>G (p.Ala2259Gly) c.1-15455C>G (n.1-15455C>G) c.6032C>G (p.Ala2011Gly) c.6578C>G (p.Ala2193Gly) c.6395C>G (p.Ala2132Gly) c.6116C>G (p.Ala2039Gly) c.5159C>G (p.Ala1720Gly) c.5150C>G (p.Ala1717Gly) | |
| 5 | g.37049123C>T | CA359508711 | NIPBL | c.6776C>T (p.Ala2259Val) c.1-15455C>T (n.1-15455C>T) c.6032C>T (p.Ala2011Val) c.6578C>T (p.Ala2193Val) c.6395C>T (p.Ala2132Val) c.6116C>T (p.Ala2039Val) c.5159C>T (p.Ala1720Val) c.5150C>T (p.Ala1717Val) | COSMIC COSMIC |
| 5 | g.37049124A= | CA1539568338 | NIPBL | c.6777A= (p.Ala2259=) c.1-15454A= (n.1-15454A=) c.6033A= (p.Ala2011=) c.6579A= (p.Ala2193=) c.6396A= (p.Ala2132=) c.6117A= (p.Ala2039=) c.5160A= (p.Ala1720=) c.5151A= (p.Ala1717=) | |
| 5 | g.37049124A>C | CA443907744 | NIPBL | c.6777A>C (p.Ala2259=) c.1-15454A>C (n.1-15454A>C) c.6033A>C (p.Ala2011=) c.6579A>C (p.Ala2193=) c.6396A>C (p.Ala2132=) c.6117A>C (p.Ala2039=) c.5160A>C (p.Ala1720=) c.5151A>C (p.Ala1717=) | gnomAD v4 |
| 5 | g.37049124A>G | CA443907746 | NIPBL | c.6777A>G (p.Ala2259=) c.1-15454A>G (n.1-15454A>G) c.6033A>G (p.Ala2011=) c.6579A>G (p.Ala2193=) c.6396A>G (p.Ala2132=) c.6117A>G (p.Ala2039=) c.5160A>G (p.Ala1720=) c.5151A>G (p.Ala1717=) | |
| 5 | g.37049124A>T | CA117049223 | NIPBL | c.6777A>T (p.Ala2259=) c.1-15454A>T (n.1-15454A>T) c.6033A>T (p.Ala2011=) c.6579A>T (p.Ala2193=) c.6396A>T (p.Ala2132=) c.6117A>T (p.Ala2039=) c.5160A>T (p.Ala1720=) c.5151A>T (p.Ala1717=) | dbSNP |
| 5 | g.37049125A>C | CA359508712 | NIPBL | c.6778A>C (p.Lys2260Gln) c.1-15453A>C (n.1-15453A>C) c.6034A>C (p.Lys2012Gln) c.6580A>C (p.Lys2194Gln) c.6397A>C (p.Lys2133Gln) c.6118A>C (p.Lys2040Gln) c.5161A>C (p.Lys1721Gln) c.5152A>C (p.Lys1718Gln) | |
| 5 | g.37049125A>G | CA359508713 | NIPBL | c.6778A>G (p.Lys2260Glu) c.1-15453A>G (n.1-15453A>G) c.6034A>G (p.Lys2012Glu) c.6580A>G (p.Lys2194Glu) c.6397A>G (p.Lys2133Glu) c.6118A>G (p.Lys2040Glu) c.5161A>G (p.Lys1721Glu) c.5152A>G (p.Lys1718Glu) | |
| 5 | g.37049125A>T | CA359508714 | NIPBL | c.6778A>T (p.Lys2260Ter) c.1-15453A>T (n.1-15453A>T) c.6034A>T (p.Lys2012Ter) c.6580A>T (p.Lys2194Ter) c.6397A>T (p.Lys2133Ter) c.6118A>T (p.Lys2040Ter) c.5161A>T (p.Lys1721Ter) c.5152A>T (p.Lys1718Ter) | |
| 5 | g.37049126A>C | CA359508715 | NIPBL | c.6779A>C (p.Lys2260Thr) c.1-15452A>C (n.1-15452A>C) c.6035A>C (p.Lys2012Thr) c.6581A>C (p.Lys2194Thr) c.6398A>C (p.Lys2133Thr) c.6119A>C (p.Lys2040Thr) c.5162A>C (p.Lys1721Thr) c.5153A>C (p.Lys1718Thr) | |
| 5 | g.37049126A>G | CA359508716 | NIPBL | c.6779A>G (p.Lys2260Arg) c.1-15452A>G (n.1-15452A>G) c.6035A>G (p.Lys2012Arg) c.6581A>G (p.Lys2194Arg) c.6398A>G (p.Lys2133Arg) c.6119A>G (p.Lys2040Arg) c.5162A>G (p.Lys1721Arg) c.5153A>G (p.Lys1718Arg) | |
| 5 | g.37049126A>T | CA359508717 | NIPBL | c.6779A>T (p.Lys2260Ile) c.1-15452A>T (n.1-15452A>T) c.6035A>T (p.Lys2012Ile) c.6581A>T (p.Lys2194Ile) c.6398A>T (p.Lys2133Ile) c.6119A>T (p.Lys2040Ile) c.5162A>T (p.Lys1721Ile) c.5153A>T (p.Lys1718Ile) | |
| 5 | g.37049127A>C | CA359508718 | NIPBL | c.6780A>C (p.Lys2260Asn) c.1-15451A>C (n.1-15451A>C) c.6036A>C (p.Lys2012Asn) c.6582A>C (p.Lys2194Asn) c.6399A>C (p.Lys2133Asn) c.6120A>C (p.Lys2040Asn) c.5163A>C (p.Lys1721Asn) c.5154A>C (p.Lys1718Asn) | |
| 5 | g.37049127A>G | CA443907758 | NIPBL | c.6780A>G (p.Lys2260=) c.1-15451A>G (n.1-15451A>G) c.6036A>G (p.Lys2012=) c.6582A>G (p.Lys2194=) c.6399A>G (p.Lys2133=) c.6120A>G (p.Lys2040=) c.5163A>G (p.Lys1721=) c.5154A>G (p.Lys1718=) | |
| 5 | g.37049127A>T | CA359508719 | NIPBL | c.6780A>T (p.Lys2260Asn) c.1-15451A>T (n.1-15451A>T) c.6036A>T (p.Lys2012Asn) c.6582A>T (p.Lys2194Asn) c.6399A>T (p.Lys2133Asn) c.6120A>T (p.Lys2040Asn) c.5163A>T (p.Lys1721Asn) c.5154A>T (p.Lys1718Asn) | |
| 5 | g.37049128C>A | CA359508722 | NIPBL | c.6781C>A (p.Gln2261Lys) c.1-15450C>A (n.1-15450C>A) c.6037C>A (p.Gln2013Lys) c.6583C>A (p.Gln2195Lys) c.6400C>A (p.Gln2134Lys) c.6121C>A (p.Gln2041Lys) c.5164C>A (p.Gln1722Lys) c.5155C>A (p.Gln1719Lys) | |
| 5 | g.37049128C>G | CA359508720 | NIPBL | c.6781C>G (p.Gln2261Glu) c.1-15450C>G (n.1-15450C>G) c.6037C>G (p.Gln2013Glu) c.6583C>G (p.Gln2195Glu) c.6400C>G (p.Gln2134Glu) c.6121C>G (p.Gln2041Glu) c.5164C>G (p.Gln1722Glu) c.5155C>G (p.Gln1719Glu) | |
| 5 | g.37049128C>T | CA359508721 | NIPBL | c.6781C>T (p.Gln2261Ter) c.1-15450C>T (n.1-15450C>T) c.6037C>T (p.Gln2013Ter) c.6583C>T (p.Gln2195Ter) c.6400C>T (p.Gln2134Ter) c.6121C>T (p.Gln2041Ter) c.5164C>T (p.Gln1722Ter) c.5155C>T (p.Gln1719Ter) | |
| 5 | g.37049129A>C | CA359508723 | NIPBL | c.6782A>C (p.Gln2261Pro) c.1-15449A>C (n.1-15449A>C) c.6038A>C (p.Gln2013Pro) c.6584A>C (p.Gln2195Pro) c.6401A>C (p.Gln2134Pro) c.6122A>C (p.Gln2041Pro) c.5165A>C (p.Gln1722Pro) c.5156A>C (p.Gln1719Pro) | |
| 5 | g.37049129A>G | CA359508724 | NIPBL | c.6782A>G (p.Gln2261Arg) c.1-15449A>G (n.1-15449A>G) c.6038A>G (p.Gln2013Arg) c.6584A>G (p.Gln2195Arg) c.6401A>G (p.Gln2134Arg) c.6122A>G (p.Gln2041Arg) c.5165A>G (p.Gln1722Arg) c.5156A>G (p.Gln1719Arg) | |
| 5 | g.37049129A>T | CA359508725 | NIPBL | c.6782A>T (p.Gln2261Leu) c.1-15449A>T (n.1-15449A>T) c.6038A>T (p.Gln2013Leu) c.6584A>T (p.Gln2195Leu) c.6401A>T (p.Gln2134Leu) c.6122A>T (p.Gln2041Leu) c.5165A>T (p.Gln1722Leu) c.5156A>T (p.Gln1719Leu) | |
| 5 | g.37049130G>A | CA443907782 | NIPBL | c.6783G>A (p.Gln2261=) c.1-15448G>A (n.1-15448G>A) c.6039G>A (p.Gln2013=) c.6585G>A (p.Gln2195=) c.6402G>A (p.Gln2134=) c.6123G>A (p.Gln2041=) c.5166G>A (p.Gln1722=) c.5157G>A (p.Gln1719=) | |
| 5 | g.37049130G>C | CA359508726 | NIPBL | c.6783G>C (p.Gln2261His) c.1-15448G>C (n.1-15448G>C) c.6039G>C (p.Gln2013His) c.6585G>C (p.Gln2195His) c.6402G>C (p.Gln2134His) c.6123G>C (p.Gln2041His) c.5166G>C (p.Gln1722His) c.5157G>C (p.Gln1719His) | |
| 5 | g.37049130G>T | CA359508727 | NIPBL | c.6783G>T (p.Gln2261His) c.1-15448G>T (n.1-15448G>T) c.6039G>T (p.Gln2013His) c.6585G>T (p.Gln2195His) c.6402G>T (p.Gln2134His) c.6123G>T (p.Gln2041His) c.5166G>T (p.Gln1722His) c.5157G>T (p.Gln1719His) | |
| 5 | g.37049131del | CA645546380 | NIPBL | c.6784del (p.Glu2262LysfsTer3) c.1-15447del (n.1-15447del) c.6040del (p.Glu2014LysfsTer3) c.6586del (p.Glu2196LysfsTer3) c.6403del (p.Glu2135LysfsTer3) c.6124del (p.Glu2042LysfsTer3) c.5167del (p.Glu1723LysfsTer3) c.5158del (p.Glu1720LysfsTer3) | COSMIC COSMIC |
| 5 | g.37049131G>A | CA359508728 | NIPBL | c.6784G>A (p.Glu2262Lys) c.1-15447G>A (n.1-15447G>A) c.6040G>A (p.Glu2014Lys) c.6586G>A (p.Glu2196Lys) c.6403G>A (p.Glu2135Lys) c.6124G>A (p.Glu2042Lys) c.5167G>A (p.Glu1723Lys) c.5158G>A (p.Glu1720Lys) | |
| 5 | g.37049131G>C | CA359508729 | NIPBL | c.6784G>C (p.Glu2262Gln) c.1-15447G>C (n.1-15447G>C) c.6040G>C (p.Glu2014Gln) c.6586G>C (p.Glu2196Gln) c.6403G>C (p.Glu2135Gln) c.6124G>C (p.Glu2042Gln) c.5167G>C (p.Glu1723Gln) c.5158G>C (p.Glu1720Gln) | |
| 5 | g.37049131G>T | CA359508730 | NIPBL | c.6784G>T (p.Glu2262Ter) c.1-15447G>T (n.1-15447G>T) c.6040G>T (p.Glu2014Ter) c.6586G>T (p.Glu2196Ter) c.6403G>T (p.Glu2135Ter) c.6124G>T (p.Glu2042Ter) c.5167G>T (p.Glu1723Ter) c.5158G>T (p.Glu1720Ter) | |
| 5 | g.37049132A>C | CA359508731 | NIPBL | c.6785A>C (p.Glu2262Ala) c.1-15446A>C (n.1-15446A>C) c.6041A>C (p.Glu2014Ala) c.6587A>C (p.Glu2196Ala) c.6404A>C (p.Glu2135Ala) c.6125A>C (p.Glu2042Ala) c.5168A>C (p.Glu1723Ala) c.5159A>C (p.Glu1720Ala) | |
| 5 | g.37049132A>G | CA359508732 | NIPBL | c.6785A>G (p.Glu2262Gly) c.1-15446A>G (n.1-15446A>G) c.6041A>G (p.Glu2014Gly) c.6587A>G (p.Glu2196Gly) c.6404A>G (p.Glu2135Gly) c.6125A>G (p.Glu2042Gly) c.5168A>G (p.Glu1723Gly) c.5159A>G (p.Glu1720Gly) | |
| 5 | g.37049132A>T | CA359508733 | NIPBL | c.6785A>T (p.Glu2262Val) c.1-15446A>T (n.1-15446A>T) c.6041A>T (p.Glu2014Val) c.6587A>T (p.Glu2196Val) c.6404A>T (p.Glu2135Val) c.6125A>T (p.Glu2042Val) c.5168A>T (p.Glu1723Val) c.5159A>T (p.Glu1720Val) | |
| 5 | g.37049133A>C | CA359508735 | NIPBL | c.6786A>C (p.Glu2262Asp) c.1-15445A>C (n.1-15445A>C) c.6042A>C (p.Glu2014Asp) c.6588A>C (p.Glu2196Asp) c.6405A>C (p.Glu2135Asp) c.6126A>C (p.Glu2042Asp) c.5169A>C (p.Glu1723Asp) c.5160A>C (p.Glu1720Asp) | |
| 5 | g.37049133A>G | CA443907798 | NIPBL | c.6786A>G (p.Glu2262=) c.1-15445A>G (n.1-15445A>G) c.6042A>G (p.Glu2014=) c.6588A>G (p.Glu2196=) c.6405A>G (p.Glu2135=) c.6126A>G (p.Glu2042=) c.5169A>G (p.Glu1723=) c.5160A>G (p.Glu1720=) | gnomAD v4 |
| 5 | g.37049133A>T | CA359508734 | NIPBL | c.6786A>T (p.Glu2262Asp) c.1-15445A>T (n.1-15445A>T) c.6042A>T (p.Glu2014Asp) c.6588A>T (p.Glu2196Asp) c.6405A>T (p.Glu2135Asp) c.6126A>T (p.Glu2042Asp) c.5169A>T (p.Glu1723Asp) c.5160A>T (p.Glu1720Asp) | |
| 5 | g.37049134G>A | CA359508736 | NIPBL | c.6787G>A (p.Asp2263Asn) c.1-15444G>A (n.1-15444G>A) c.6043G>A (p.Asp2015Asn) c.6589G>A (p.Asp2197Asn) c.6406G>A (p.Asp2136Asn) c.6127G>A (p.Asp2043Asn) c.5170G>A (p.Asp1724Asn) c.5161G>A (p.Asp1721Asn) | |
| 5 | g.37049134G>C | CA359508737 | NIPBL | c.6787G>C (p.Asp2263His) c.1-15444G>C (n.1-15444G>C) c.6043G>C (p.Asp2015His) c.6589G>C (p.Asp2197His) c.6406G>C (p.Asp2136His) c.6127G>C (p.Asp2043His) c.5170G>C (p.Asp1724His) c.5161G>C (p.Asp1721His) | |
| 5 | g.37049134G>T | CA359508738 | NIPBL | c.6787G>T (p.Asp2263Tyr) c.1-15444G>T (n.1-15444G>T) c.6043G>T (p.Asp2015Tyr) c.6589G>T (p.Asp2197Tyr) c.6406G>T (p.Asp2136Tyr) c.6127G>T (p.Asp2043Tyr) c.5170G>T (p.Asp1724Tyr) c.5161G>T (p.Asp1721Tyr) | |
| 5 | g.37049135A>C | CA359508739 | NIPBL | c.6788A>C (p.Asp2263Ala) c.1-15443A>C (n.1-15443A>C) c.6044A>C (p.Asp2015Ala) c.6590A>C (p.Asp2197Ala) c.6407A>C (p.Asp2136Ala) c.6128A>C (p.Asp2043Ala) c.5171A>C (p.Asp1724Ala) c.5162A>C (p.Asp1721Ala) | |
| 5 | g.37049135A>G | CA359508740 | NIPBL | c.6788A>G (p.Asp2263Gly) c.1-15443A>G (n.1-15443A>G) c.6044A>G (p.Asp2015Gly) c.6590A>G (p.Asp2197Gly) c.6407A>G (p.Asp2136Gly) c.6128A>G (p.Asp2043Gly) c.5171A>G (p.Asp1724Gly) c.5162A>G (p.Asp1721Gly) | |
| 5 | g.37049135A>T | CA359508741 | NIPBL | c.6788A>T (p.Asp2263Val) c.1-15443A>T (n.1-15443A>T) c.6044A>T (p.Asp2015Val) c.6590A>T (p.Asp2197Val) c.6407A>T (p.Asp2136Val) c.6128A>T (p.Asp2043Val) c.5171A>T (p.Asp1724Val) c.5162A>T (p.Asp1721Val) | |
| 5 | g.37049136C>A | CA359508742 | NIPBL | c.6789C>A (p.Asp2263Glu) c.1-15442C>A (n.1-15442C>A) c.6045C>A (p.Asp2015Glu) c.6591C>A (p.Asp2197Glu) c.6408C>A (p.Asp2136Glu) c.6129C>A (p.Asp2043Glu) c.5172C>A (p.Asp1724Glu) c.5163C>A (p.Asp1721Glu) | |
| 5 | g.37049136C>G | CA359508743 | NIPBL | c.6789C>G (p.Asp2263Glu) c.1-15442C>G (n.1-15442C>G) c.6045C>G (p.Asp2015Glu) c.6591C>G (p.Asp2197Glu) c.6408C>G (p.Asp2136Glu) c.6129C>G (p.Asp2043Glu) c.5172C>G (p.Asp1724Glu) c.5163C>G (p.Asp1721Glu) | |
| 5 | g.37049136C>T | CA443907811 | NIPBL | c.6789C>T (p.Asp2263=) c.1-15442C>T (n.1-15442C>T) c.6045C>T (p.Asp2015=) c.6591C>T (p.Asp2197=) c.6408C>T (p.Asp2136=) c.6129C>T (p.Asp2043=) c.5172C>T (p.Asp1724=) c.5163C>T (p.Asp1721=) | gnomAD v4 |
| 5 | g.37049137T>A | CA359508744 | NIPBL | c.6790T>A (p.Leu2264Ile) c.1-15441T>A (n.1-15441T>A) c.6046T>A (p.Leu2016Ile) c.6592T>A (p.Leu2198Ile) c.6409T>A (p.Leu2137Ile) c.6130T>A (p.Leu2044Ile) c.5173T>A (p.Leu1725Ile) c.5164T>A (p.Leu1722Ile) | |
| 5 | g.37049137T>C | CA443907815 | NIPBL | c.6790T>C (p.Leu2264=) c.1-15441T>C (n.1-15441T>C) c.6046T>C (p.Leu2016=) c.6592T>C (p.Leu2198=) c.6409T>C (p.Leu2137=) c.6130T>C (p.Leu2044=) c.5173T>C (p.Leu1725=) c.5164T>C (p.Leu1722=) | dbSNP gnomAD v4 |
| 5 | g.37049137T>G | CA359508745 | NIPBL | c.6790T>G (p.Leu2264Val) c.1-15441T>G (n.1-15441T>G) c.6046T>G (p.Leu2016Val) c.6592T>G (p.Leu2198Val) c.6409T>G (p.Leu2137Val) c.6130T>G (p.Leu2044Val) c.5173T>G (p.Leu1725Val) c.5164T>G (p.Leu1722Val) | |
| 5 | g.37049137T= | CA1539568342 | NIPBL | c.6790T= (p.Leu2264=) c.1-15441T= (n.1-15441T=) c.6046T= (p.Leu2016=) c.6592T= (p.Leu2198=) c.6409T= (p.Leu2137=) c.6130T= (p.Leu2044=) c.5173T= (p.Leu1725=) c.5164T= (p.Leu1722=) | |
| 5 | g.37049138T>A | CA359508746 | NIPBL | c.6791T>A (p.Leu2264Ter) c.1-15440T>A (n.1-15440T>A) c.6047T>A (p.Leu2016Ter) c.6593T>A (p.Leu2198Ter) c.6410T>A (p.Leu2137Ter) c.6131T>A (p.Leu2044Ter) c.5174T>A (p.Leu1725Ter) c.5165T>A (p.Leu1722Ter) | |
| 5 | g.37049138T>C | CA359508747 | NIPBL | c.6791T>C (p.Leu2264Ser) c.1-15440T>C (n.1-15440T>C) c.6047T>C (p.Leu2016Ser) c.6593T>C (p.Leu2198Ser) c.6410T>C (p.Leu2137Ser) c.6131T>C (p.Leu2044Ser) c.5174T>C (p.Leu1725Ser) c.5165T>C (p.Leu1722Ser) | |
| 5 | g.37049138T>G | CA359508748 | NIPBL | c.6791T>G (p.Leu2264Ter) c.1-15440T>G (n.1-15440T>G) c.6047T>G (p.Leu2016Ter) c.6593T>G (p.Leu2198Ter) c.6410T>G (p.Leu2137Ter) c.6131T>G (p.Leu2044Ter) c.5174T>G (p.Leu1725Ter) c.5165T>G (p.Leu1722Ter) | |
| 5 | g.37049139A= | CA1539568344 | NIPBL | c.6792A= (p.Leu2264=) c.1-15439A= (n.1-15439A=) c.6048A= (p.Leu2016=) c.6594A= (p.Leu2198=) c.6411A= (p.Leu2137=) c.6132A= (p.Leu2044=) c.5175A= (p.Leu1725=) c.5166A= (p.Leu1722=) | |
| 5 | g.37049139A>C | CA359508750 | NIPBL | c.6792A>C (p.Leu2264Phe) c.1-15439A>C (n.1-15439A>C) c.6048A>C (p.Leu2016Phe) c.6594A>C (p.Leu2198Phe) c.6411A>C (p.Leu2137Phe) c.6132A>C (p.Leu2044Phe) c.5175A>C (p.Leu1725Phe) c.5166A>C (p.Leu1722Phe) | |
| 5 | g.37049139A>G | CA443907825 | NIPBL | c.6792A>G (p.Leu2264=) c.1-15439A>G (n.1-15439A>G) c.6048A>G (p.Leu2016=) c.6594A>G (p.Leu2198=) c.6411A>G (p.Leu2137=) c.6132A>G (p.Leu2044=) c.5175A>G (p.Leu1725=) c.5166A>G (p.Leu1722=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37049139A>T | CA359508749 | NIPBL | c.6792A>T (p.Leu2264Phe) c.1-15439A>T (n.1-15439A>T) c.6048A>T (p.Leu2016Phe) c.6594A>T (p.Leu2198Phe) c.6411A>T (p.Leu2137Phe) c.6132A>T (p.Leu2044Phe) c.5175A>T (p.Leu1725Phe) c.5166A>T (p.Leu1722Phe) | |
| 5 | g.37049140A>C | CA359508751 | NIPBL | c.6793A>C (p.Lys2265Gln) c.1-15438A>C (n.1-15438A>C) c.6049A>C (p.Lys2017Gln) c.6595A>C (p.Lys2199Gln) c.6412A>C (p.Lys2138Gln) c.6133A>C (p.Lys2045Gln) c.5176A>C (p.Lys1726Gln) c.5167A>C (p.Lys1723Gln) | |
| 5 | g.37049140A>G | CA359508752 | NIPBL | c.6793A>G (p.Lys2265Glu) c.1-15438A>G (n.1-15438A>G) c.6049A>G (p.Lys2017Glu) c.6595A>G (p.Lys2199Glu) c.6412A>G (p.Lys2138Glu) c.6133A>G (p.Lys2045Glu) c.5176A>G (p.Lys1726Glu) c.5167A>G (p.Lys1723Glu) | |
| 5 | g.37049140A>T | CA359508753 | NIPBL | c.6793A>T (p.Lys2265Ter) c.1-15438A>T (n.1-15438A>T) c.6049A>T (p.Lys2017Ter) c.6595A>T (p.Lys2199Ter) c.6412A>T (p.Lys2138Ter) c.6133A>T (p.Lys2045Ter) c.5176A>T (p.Lys1726Ter) c.5167A>T (p.Lys1723Ter) | |
| 5 | g.37049141A= | CA1539568348 | NIPBL | c.6794A= (p.Lys2265=) c.1-15437A= (n.1-15437A=) c.6050A= (p.Lys2017=) c.6596A= (p.Lys2199=) c.6413A= (p.Lys2138=) c.6134A= (p.Lys2045=) c.5177A= (p.Lys1726=) c.5168A= (p.Lys1723=) | |
| 5 | g.37049141A>C | CA359508754 | NIPBL | c.6794A>C (p.Lys2265Thr) c.1-15437A>C (n.1-15437A>C) c.6050A>C (p.Lys2017Thr) c.6596A>C (p.Lys2199Thr) c.6413A>C (p.Lys2138Thr) c.6134A>C (p.Lys2045Thr) c.5177A>C (p.Lys1726Thr) c.5168A>C (p.Lys1723Thr) | |
| 5 | g.37049141A>G | CA359508755 | NIPBL | c.6794A>G (p.Lys2265Arg) c.1-15437A>G (n.1-15437A>G) c.6050A>G (p.Lys2017Arg) c.6596A>G (p.Lys2199Arg) c.6413A>G (p.Lys2138Arg) c.6134A>G (p.Lys2045Arg) c.5177A>G (p.Lys1726Arg) c.5168A>G (p.Lys1723Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049141A>T | CA359508756 | NIPBL | c.6794A>T (p.Lys2265Ile) c.1-15437A>T (n.1-15437A>T) c.6050A>T (p.Lys2017Ile) c.6596A>T (p.Lys2199Ile) c.6413A>T (p.Lys2138Ile) c.6134A>T (p.Lys2045Ile) c.5177A>T (p.Lys1726Ile) c.5168A>T (p.Lys1723Ile) | |
| 5 | g.37049142A= | CA1539568351 | NIPBL | c.6795A= (p.Lys2265=) c.1-15436A= (n.1-15436A=) c.6051A= (p.Lys2017=) c.6597A= (p.Lys2199=) c.6414A= (p.Lys2138=) c.6135A= (p.Lys2045=) c.5178A= (p.Lys1726=) c.5169A= (p.Lys1723=) | |
| 5 | g.37049142A>C | CA359508757 | NIPBL | c.6795A>C (p.Lys2265Asn) c.1-15436A>C (n.1-15436A>C) c.6051A>C (p.Lys2017Asn) c.6597A>C (p.Lys2199Asn) c.6414A>C (p.Lys2138Asn) c.6135A>C (p.Lys2045Asn) c.5178A>C (p.Lys1726Asn) c.5169A>C (p.Lys1723Asn) | |
| 5 | g.37049142A>G | CA443907837 | NIPBL | c.6795A>G (p.Lys2265=) c.1-15436A>G (n.1-15436A>G) c.6051A>G (p.Lys2017=) c.6597A>G (p.Lys2199=) c.6414A>G (p.Lys2138=) c.6135A>G (p.Lys2045=) c.5178A>G (p.Lys1726=) c.5169A>G (p.Lys1723=) | |
| 5 | g.37049142A>T | CA3237073 | NIPBL | c.6795A>T (p.Lys2265Asn) c.1-15436A>T (n.1-15436A>T) c.6051A>T (p.Lys2017Asn) c.6597A>T (p.Lys2199Asn) c.6414A>T (p.Lys2138Asn) c.6135A>T (p.Lys2045Asn) c.5178A>T (p.Lys1726Asn) c.5169A>T (p.Lys1723Asn) | dbSNP ExAC gnomAD v2 |
| 5 | g.37049143G>A | CA359508758 | NIPBL | c.6796G>A (p.Glu2266Lys) c.1-15435G>A (n.1-15435G>A) c.6052G>A (p.Glu2018Lys) c.6598G>A (p.Glu2200Lys) c.6415G>A (p.Glu2139Lys) c.6136G>A (p.Glu2046Lys) c.5179G>A (p.Glu1727Lys) c.5170G>A (p.Glu1724Lys) | |
| 5 | g.37049143G>C | CA359508759 | NIPBL | c.6796G>C (p.Glu2266Gln) c.1-15435G>C (n.1-15435G>C) c.6052G>C (p.Glu2018Gln) c.6598G>C (p.Glu2200Gln) c.6415G>C (p.Glu2139Gln) c.6136G>C (p.Glu2046Gln) c.5179G>C (p.Glu1727Gln) c.5170G>C (p.Glu1724Gln) | |
| 5 | g.37049143G= | CA1539568356 | NIPBL | c.6796G= (p.Glu2266=) c.1-15435G= (n.1-15435G=) c.6052G= (p.Glu2018=) c.6598G= (p.Glu2200=) c.6415G= (p.Glu2139=) c.6136G= (p.Glu2046=) c.5179G= (p.Glu1727=) c.5170G= (p.Glu1724=) | |
| 5 | g.37049143G>T | CA359508760 | NIPBL | c.6796G>T (p.Glu2266Ter) c.1-15435G>T (n.1-15435G>T) c.6052G>T (p.Glu2018Ter) c.6598G>T (p.Glu2200Ter) c.6415G>T (p.Glu2139Ter) c.6136G>T (p.Glu2046Ter) c.5179G>T (p.Glu1727Ter) c.5170G>T (p.Glu1724Ter) | ClinVar dbSNP |
| 5 | g.37049144A>C | CA359508761 | NIPBL | c.6797A>C (p.Glu2266Ala) c.1-15434A>C (n.1-15434A>C) c.6053A>C (p.Glu2018Ala) c.6599A>C (p.Glu2200Ala) c.6416A>C (p.Glu2139Ala) c.6137A>C (p.Glu2046Ala) c.5180A>C (p.Glu1727Ala) c.5171A>C (p.Glu1724Ala) | |
| 5 | g.37049144A>G | CA359508762 | NIPBL | c.6797A>G (p.Glu2266Gly) c.1-15434A>G (n.1-15434A>G) c.6053A>G (p.Glu2018Gly) c.6599A>G (p.Glu2200Gly) c.6416A>G (p.Glu2139Gly) c.6137A>G (p.Glu2046Gly) c.5180A>G (p.Glu1727Gly) c.5171A>G (p.Glu1724Gly) | |
| 5 | g.37049144A>T | CA359508763 | NIPBL | c.6797A>T (p.Glu2266Val) c.1-15434A>T (n.1-15434A>T) c.6053A>T (p.Glu2018Val) c.6599A>T (p.Glu2200Val) c.6416A>T (p.Glu2139Val) c.6137A>T (p.Glu2046Val) c.5180A>T (p.Glu1727Val) c.5171A>T (p.Glu1724Val) | |
| 5 | g.37049145A>C | CA359508765 | NIPBL | c.6798A>C (p.Glu2266Asp) c.1-15433A>C (n.1-15433A>C) c.6054A>C (p.Glu2018Asp) c.6600A>C (p.Glu2200Asp) c.6417A>C (p.Glu2139Asp) c.6138A>C (p.Glu2046Asp) c.5181A>C (p.Glu1727Asp) c.5172A>C (p.Glu1724Asp) | |
| 5 | g.37049145A>G | CA443907850 | NIPBL | c.6798A>G (p.Glu2266=) c.1-15433A>G (n.1-15433A>G) c.6054A>G (p.Glu2018=) c.6600A>G (p.Glu2200=) c.6417A>G (p.Glu2139=) c.6138A>G (p.Glu2046=) c.5181A>G (p.Glu1727=) c.5172A>G (p.Glu1724=) | |
| 5 | g.37049145A>T | CA359508764 | NIPBL | c.6798A>T (p.Glu2266Asp) c.1-15433A>T (n.1-15433A>T) c.6054A>T (p.Glu2018Asp) c.6600A>T (p.Glu2200Asp) c.6417A>T (p.Glu2139Asp) c.6138A>T (p.Glu2046Asp) c.5181A>T (p.Glu1727Asp) c.5172A>T (p.Glu1724Asp) | |
| 5 | g.37049146A>C | CA359508766 | NIPBL | c.6799A>C (p.Met2267Leu) c.1-15432A>C (n.1-15432A>C) c.6055A>C (p.Met2019Leu) c.6601A>C (p.Met2201Leu) c.6418A>C (p.Met2140Leu) c.6139A>C (p.Met2047Leu) c.5182A>C (p.Met1728Leu) c.5173A>C (p.Met1725Leu) | |
| 5 | g.37049146A>G | CA359508767 | NIPBL | c.6799A>G (p.Met2267Val) c.1-15432A>G (n.1-15432A>G) c.6055A>G (p.Met2019Val) c.6601A>G (p.Met2201Val) c.6418A>G (p.Met2140Val) c.6139A>G (p.Met2047Val) c.5182A>G (p.Met1728Val) c.5173A>G (p.Met1725Val) | |
| 5 | g.37049146A>T | CA359508768 | NIPBL | c.6799A>T (p.Met2267Leu) c.1-15432A>T (n.1-15432A>T) c.6055A>T (p.Met2019Leu) c.6601A>T (p.Met2201Leu) c.6418A>T (p.Met2140Leu) c.6139A>T (p.Met2047Leu) c.5182A>T (p.Met1728Leu) c.5173A>T (p.Met1725Leu) | |
| 5 | g.37049147T>A | CA359508769 | NIPBL | c.6800T>A (p.Met2267Lys) c.1-15431T>A (n.1-15431T>A) c.6056T>A (p.Met2019Lys) c.6602T>A (p.Met2201Lys) c.6419T>A (p.Met2140Lys) c.6140T>A (p.Met2047Lys) c.5183T>A (p.Met1728Lys) c.5174T>A (p.Met1725Lys) | |
| 5 | g.37049147T>C | CA359508770 | NIPBL | c.6800T>C (p.Met2267Thr) c.1-15431T>C (n.1-15431T>C) c.6056T>C (p.Met2019Thr) c.6602T>C (p.Met2201Thr) c.6419T>C (p.Met2140Thr) c.6140T>C (p.Met2047Thr) c.5183T>C (p.Met1728Thr) c.5174T>C (p.Met1725Thr) | |
| 5 | g.37049147T>G | CA276999 | NIPBL | c.6800T>G (p.Met2267Arg) c.1-15431T>G (n.1-15431T>G) c.6056T>G (p.Met2019Arg) c.6602T>G (p.Met2201Arg) c.6419T>G (p.Met2140Arg) c.6140T>G (p.Met2047Arg) c.5183T>G (p.Met1728Arg) c.5174T>G (p.Met1725Arg) | ClinVar dbSNP |
| 5 | g.37049147T= | CA1539568362 | NIPBL | c.6800T= (p.Met2267=) c.1-15431T= (n.1-15431T=) c.6056T= (p.Met2019=) c.6602T= (p.Met2201=) c.6419T= (p.Met2140=) c.6140T= (p.Met2047=) c.5183T= (p.Met1728=) c.5174T= (p.Met1725=) | |
| 5 | g.37049148G>A | CA359508773 | NIPBL | c.6801G>A (p.Met2267Ile) c.1-15430G>A (n.1-15430G>A) c.6057G>A (p.Met2019Ile) c.6603G>A (p.Met2201Ile) c.6420G>A (p.Met2140Ile) c.6141G>A (p.Met2047Ile) c.5184G>A (p.Met1728Ile) c.5175G>A (p.Met1725Ile) | gnomAD v4 |
| 5 | g.37049148G>C | CA359508772 | NIPBL | c.6801G>C (p.Met2267Ile) c.1-15430G>C (n.1-15430G>C) c.6057G>C (p.Met2019Ile) c.6603G>C (p.Met2201Ile) c.6420G>C (p.Met2140Ile) c.6141G>C (p.Met2047Ile) c.5184G>C (p.Met1728Ile) c.5175G>C (p.Met1725Ile) | |
| 5 | g.37049148G>T | CA359508771 | NIPBL | c.6801G>T (p.Met2267Ile) c.1-15430G>T (n.1-15430G>T) c.6057G>T (p.Met2019Ile) c.6603G>T (p.Met2201Ile) c.6420G>T (p.Met2140Ile) c.6141G>T (p.Met2047Ile) c.5184G>T (p.Met1728Ile) c.5175G>T (p.Met1725Ile) | |
| 5 | g.37049150del | CA2695204424 | NIPBL | c.6803del (p.Gly2268ValfsTer7) c.1-15428del (n.1-15428del) c.6059del (p.Gly2020ValfsTer7) c.6605del (p.Gly2202ValfsTer7) c.6422del (p.Gly2141ValfsTer7) c.6143del (p.Gly2048ValfsTer7) c.5186del (p.Gly1729ValfsTer7) c.5177del (p.Gly1726ValfsTer7) | |
| 5 | g.37049149G>A | CA359508774 | NIPBL | c.6802G>A (p.Gly2268Ser) c.1-15429G>A (n.1-15429G>A) c.6058G>A (p.Gly2020Ser) c.6604G>A (p.Gly2202Ser) c.6421G>A (p.Gly2141Ser) c.6142G>A (p.Gly2048Ser) c.5185G>A (p.Gly1729Ser) c.5176G>A (p.Gly1726Ser) | |
| 5 | g.37049149G>C | CA359508775 | NIPBL | c.6802G>C (p.Gly2268Arg) c.1-15429G>C (n.1-15429G>C) c.6058G>C (p.Gly2020Arg) c.6604G>C (p.Gly2202Arg) c.6421G>C (p.Gly2141Arg) c.6142G>C (p.Gly2048Arg) c.5185G>C (p.Gly1729Arg) c.5176G>C (p.Gly1726Arg) | |
| 5 | g.37049149G>T | CA359508776 | NIPBL | c.6802G>T (p.Gly2268Cys) c.1-15429G>T (n.1-15429G>T) c.6058G>T (p.Gly2020Cys) c.6604G>T (p.Gly2202Cys) c.6421G>T (p.Gly2141Cys) c.6142G>T (p.Gly2048Cys) c.5185G>T (p.Gly1729Cys) c.5176G>T (p.Gly1726Cys) | |
| 5 | g.37049150G>A | CA359508777 | NIPBL | c.6803G>A (p.Gly2268Asp) c.1-15428G>A (n.1-15428G>A) c.6059G>A (p.Gly2020Asp) c.6605G>A (p.Gly2202Asp) c.6422G>A (p.Gly2141Asp) c.6143G>A (p.Gly2048Asp) c.5186G>A (p.Gly1729Asp) c.5177G>A (p.Gly1726Asp) | |
| 5 | g.37049150G>C | CA359508778 | NIPBL | c.6803G>C (p.Gly2268Ala) c.1-15428G>C (n.1-15428G>C) c.6059G>C (p.Gly2020Ala) c.6605G>C (p.Gly2202Ala) c.6422G>C (p.Gly2141Ala) c.6143G>C (p.Gly2048Ala) c.5186G>C (p.Gly1729Ala) c.5177G>C (p.Gly1726Ala) | |
| 5 | g.37049150G>T | CA359508779 | NIPBL | c.6803G>T (p.Gly2268Val) c.1-15428G>T (n.1-15428G>T) c.6059G>T (p.Gly2020Val) c.6605G>T (p.Gly2202Val) c.6422G>T (p.Gly2141Val) c.6143G>T (p.Gly2048Val) c.5186G>T (p.Gly1729Val) c.5177G>T (p.Gly1726Val) | |
| 5 | g.37049151T>A | CA443907876 | NIPBL | c.6804T>A (p.Gly2268=) c.1-15427T>A (n.1-15427T>A) c.6060T>A (p.Gly2020=) c.6606T>A (p.Gly2202=) c.6423T>A (p.Gly2141=) c.6144T>A (p.Gly2048=) c.5187T>A (p.Gly1729=) c.5178T>A (p.Gly1726=) | |
| 5 | g.37049151T>C | CA443907878 | NIPBL | c.6804T>C (p.Gly2268=) c.1-15427T>C (n.1-15427T>C) c.6060T>C (p.Gly2020=) c.6606T>C (p.Gly2202=) c.6423T>C (p.Gly2141=) c.6144T>C (p.Gly2048=) c.5187T>C (p.Gly1729=) c.5178T>C (p.Gly1726=) | |
| 5 | g.37049151T>G | CA443907879 | NIPBL | c.6804T>G (p.Gly2268=) c.1-15427T>G (n.1-15427T>G) c.6060T>G (p.Gly2020=) c.6606T>G (p.Gly2202=) c.6423T>G (p.Gly2141=) c.6144T>G (p.Gly2048=) c.5187T>G (p.Gly1729=) c.5178T>G (p.Gly1726=) | |
| 5 | g.37049152G>A | CA359508780 | NIPBL | c.6805G>A (p.Asp2269Asn) c.1-15426G>A (n.1-15426G>A) c.6061G>A (p.Asp2021Asn) c.6607G>A (p.Asp2203Asn) c.6424G>A (p.Asp2142Asn) c.6145G>A (p.Asp2049Asn) c.5188G>A (p.Asp1730Asn) c.5179G>A (p.Asp1727Asn) | |
| 5 | g.37049152G>C | CA359508782 | NIPBL | c.6805G>C (p.Asp2269His) c.1-15426G>C (n.1-15426G>C) c.6061G>C (p.Asp2021His) c.6607G>C (p.Asp2203His) c.6424G>C (p.Asp2142His) c.6145G>C (p.Asp2049His) c.5188G>C (p.Asp1730His) c.5179G>C (p.Asp1727His) | |
| 5 | g.37049152G>T | CA359508781 | NIPBL | c.6805G>T (p.Asp2269Tyr) c.1-15426G>T (n.1-15426G>T) c.6061G>T (p.Asp2021Tyr) c.6607G>T (p.Asp2203Tyr) c.6424G>T (p.Asp2142Tyr) c.6145G>T (p.Asp2049Tyr) c.5188G>T (p.Asp1730Tyr) c.5179G>T (p.Asp1727Tyr) | |
| 5 | g.37049153A>C | CA359508783 | NIPBL | c.6806A>C (p.Asp2269Ala) c.1-15425A>C (n.1-15425A>C) c.6062A>C (p.Asp2021Ala) c.6608A>C (p.Asp2203Ala) c.6425A>C (p.Asp2142Ala) c.6146A>C (p.Asp2049Ala) c.5189A>C (p.Asp1730Ala) c.5180A>C (p.Asp1727Ala) | |
| 5 | g.37049153A>G | CA359508784 | NIPBL | c.6806A>G (p.Asp2269Gly) c.1-15425A>G (n.1-15425A>G) c.6062A>G (p.Asp2021Gly) c.6608A>G (p.Asp2203Gly) c.6425A>G (p.Asp2142Gly) c.6146A>G (p.Asp2049Gly) c.5189A>G (p.Asp1730Gly) c.5180A>G (p.Asp1727Gly) | |
| 5 | g.37049153A>T | CA359508785 | NIPBL | c.6806A>T (p.Asp2269Val) c.1-15425A>T (n.1-15425A>T) c.6062A>T (p.Asp2021Val) c.6608A>T (p.Asp2203Val) c.6425A>T (p.Asp2142Val) c.6146A>T (p.Asp2049Val) c.5189A>T (p.Asp1730Val) c.5180A>T (p.Asp1727Val) | |
| 5 | g.37049154T>A | CA359508786 | NIPBL | c.6807T>A (p.Asp2269Glu) c.1-15424T>A (n.1-15424T>A) c.6063T>A (p.Asp2021Glu) c.6609T>A (p.Asp2203Glu) c.6426T>A (p.Asp2142Glu) c.6147T>A (p.Asp2049Glu) c.5190T>A (p.Asp1730Glu) c.5181T>A (p.Asp1727Glu) | |
| 5 | g.37049154T>C | CA3237074 | NIPBL | c.6807T>C (p.Asp2269=) c.1-15424T>C (n.1-15424T>C) c.6063T>C (p.Asp2021=) c.6609T>C (p.Asp2203=) c.6426T>C (p.Asp2142=) c.6147T>C (p.Asp2049=) c.5190T>C (p.Asp1730=) c.5181T>C (p.Asp1727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049154T>G | CA359508787 | NIPBL | c.6807T>G (p.Asp2269Glu) c.1-15424T>G (n.1-15424T>G) c.6063T>G (p.Asp2021Glu) c.6609T>G (p.Asp2203Glu) c.6426T>G (p.Asp2142Glu) c.6147T>G (p.Asp2049Glu) c.5190T>G (p.Asp1730Glu) c.5181T>G (p.Asp1727Glu) | |
| 5 | g.37049154T= | CA1539568369 | NIPBL | c.6807T= (p.Asp2269=) c.1-15424T= (n.1-15424T=) c.6063T= (p.Asp2021=) c.6609T= (p.Asp2203=) c.6426T= (p.Asp2142=) c.6147T= (p.Asp2049=) c.5190T= (p.Asp1730=) c.5181T= (p.Asp1727=) | |
| 5 | g.37049155G>A | CA359508788 | NIPBL | c.6808G>A (p.Val2270Ile) c.1-15423G>A (n.1-15423G>A) c.6064G>A (p.Val2022Ile) c.6610G>A (p.Val2204Ile) c.6427G>A (p.Val2143Ile) c.6148G>A (p.Val2050Ile) c.5191G>A (p.Val1731Ile) c.5182G>A (p.Val1728Ile) | gnomAD v4 |
| 5 | g.37049155G>C | CA359508789 | NIPBL | c.6808G>C (p.Val2270Leu) c.1-15423G>C (n.1-15423G>C) c.6064G>C (p.Val2022Leu) c.6610G>C (p.Val2204Leu) c.6427G>C (p.Val2143Leu) c.6148G>C (p.Val2050Leu) c.5191G>C (p.Val1731Leu) c.5182G>C (p.Val1728Leu) | |
| 5 | g.37049155G= | CA1539568371 | NIPBL | c.6808G= (p.Val2270=) c.1-15423G= (n.1-15423G=) c.6064G= (p.Val2022=) c.6610G= (p.Val2204=) c.6427G= (p.Val2143=) c.6148G= (p.Val2050=) c.5191G= (p.Val1731=) c.5182G= (p.Val1728=) | |
| 5 | g.37049155G>T | CA359508790 | NIPBL | c.6808G>T (p.Val2270Phe) c.1-15423G>T (n.1-15423G>T) c.6064G>T (p.Val2022Phe) c.6610G>T (p.Val2204Phe) c.6427G>T (p.Val2143Phe) c.6148G>T (p.Val2050Phe) c.5191G>T (p.Val1731Phe) c.5182G>T (p.Val1728Phe) | |
| 5 | g.37049156T>A | CA359508791 | NIPBL | c.6809T>A (p.Val2270Asp) c.1-15422T>A (n.1-15422T>A) c.6065T>A (p.Val2022Asp) c.6611T>A (p.Val2204Asp) c.6428T>A (p.Val2143Asp) c.6149T>A (p.Val2050Asp) c.5192T>A (p.Val1731Asp) c.5183T>A (p.Val1728Asp) | |
| 5 | g.37049156T>C | CA359508792 | NIPBL | c.6809T>C (p.Val2270Ala) c.1-15422T>C (n.1-15422T>C) c.6065T>C (p.Val2022Ala) c.6611T>C (p.Val2204Ala) c.6428T>C (p.Val2143Ala) c.6149T>C (p.Val2050Ala) c.5192T>C (p.Val1731Ala) c.5183T>C (p.Val1728Ala) | |
| 5 | g.37049156T>G | CA359508793 | NIPBL | c.6809T>G (p.Val2270Gly) c.1-15422T>G (n.1-15422T>G) c.6065T>G (p.Val2022Gly) c.6611T>G (p.Val2204Gly) c.6428T>G (p.Val2143Gly) c.6149T>G (p.Val2050Gly) c.5192T>G (p.Val1731Gly) c.5183T>G (p.Val1728Gly) | |
| 5 | g.37049158dup | CA277071 | NIPBL | c.6811dup (p.Ser2271PhefsTer6) c.1-15420dup (n.1-15420dup) c.6067dup (p.Ser2023PhefsTer6) c.6613dup (p.Ser2205PhefsTer6) c.6430dup (p.Ser2144PhefsTer6) c.6151dup (p.Ser2051PhefsTer6) c.5194dup (p.Ser1732PhefsTer6) c.5185dup (p.Ser1729PhefsTer6) | ClinVar dbSNP |
| 5 | g.37049157T>A | CA443907904 | NIPBL | c.6810T>A (p.Val2270=) c.1-15421T>A (n.1-15421T>A) c.6066T>A (p.Val2022=) c.6612T>A (p.Val2204=) c.6429T>A (p.Val2143=) c.6150T>A (p.Val2050=) c.5193T>A (p.Val1731=) c.5184T>A (p.Val1728=) | |
| 5 | g.37049157T>C | CA443907906 | NIPBL | c.6810T>C (p.Val2270=) c.1-15421T>C (n.1-15421T>C) c.6066T>C (p.Val2022=) c.6612T>C (p.Val2204=) c.6429T>C (p.Val2143=) c.6150T>C (p.Val2050=) c.5193T>C (p.Val1731=) c.5184T>C (p.Val1728=) | |
| 5 | g.37049157T>G | CA443907908 | NIPBL | c.6810T>G (p.Val2270=) c.1-15421T>G (n.1-15421T>G) c.6066T>G (p.Val2022=) c.6612T>G (p.Val2204=) c.6429T>G (p.Val2143=) c.6150T>G (p.Val2050=) c.5193T>G (p.Val1731=) c.5184T>G (p.Val1728=) | |
| 5 | g.37049158T>A | CA359508796 | NIPBL | c.6811T>A (p.Ser2271Thr) c.1-15420T>A (n.1-15420T>A) c.6067T>A (p.Ser2023Thr) c.6613T>A (p.Ser2205Thr) c.6430T>A (p.Ser2144Thr) c.6151T>A (p.Ser2051Thr) c.5194T>A (p.Ser1732Thr) c.5185T>A (p.Ser1729Thr) | gnomAD v4 |
| 5 | g.37049158T>C | CA359508794 | NIPBL | c.6811T>C (p.Ser2271Pro) c.1-15420T>C (n.1-15420T>C) c.6067T>C (p.Ser2023Pro) c.6613T>C (p.Ser2205Pro) c.6430T>C (p.Ser2144Pro) c.6151T>C (p.Ser2051Pro) c.5194T>C (p.Ser1732Pro) c.5185T>C (p.Ser1729Pro) | |
| 5 | g.37049158T>G | CA359508795 | NIPBL | c.6811T>G (p.Ser2271Ala) c.1-15420T>G (n.1-15420T>G) c.6067T>G (p.Ser2023Ala) c.6613T>G (p.Ser2205Ala) c.6430T>G (p.Ser2144Ala) c.6151T>G (p.Ser2051Ala) c.5194T>G (p.Ser1732Ala) c.5185T>G (p.Ser1729Ala) | |
| 5 | g.37049159C>A | CA359508797 | NIPBL | c.6812C>A (p.Ser2271Tyr) c.1-15419C>A (n.1-15419C>A) c.6068C>A (p.Ser2023Tyr) c.6614C>A (p.Ser2205Tyr) c.6431C>A (p.Ser2144Tyr) c.6152C>A (p.Ser2051Tyr) c.5195C>A (p.Ser1732Tyr) c.5186C>A (p.Ser1729Tyr) | |
| 5 | g.37049159C>G | CA359508798 | NIPBL | c.6812C>G (p.Ser2271Cys) c.1-15419C>G (n.1-15419C>G) c.6068C>G (p.Ser2023Cys) c.6614C>G (p.Ser2205Cys) c.6431C>G (p.Ser2144Cys) c.6152C>G (p.Ser2051Cys) c.5195C>G (p.Ser1732Cys) c.5186C>G (p.Ser1729Cys) | gnomAD v4 |
| 5 | g.37049159C>T | CA359508799 | NIPBL | c.6812C>T (p.Ser2271Phe) c.1-15419C>T (n.1-15419C>T) c.6068C>T (p.Ser2023Phe) c.6614C>T (p.Ser2205Phe) c.6431C>T (p.Ser2144Phe) c.6152C>T (p.Ser2051Phe) c.5195C>T (p.Ser1732Phe) c.5186C>T (p.Ser1729Phe) | |
| 5 | g.37049160C>A | CA443907919 | NIPBL | c.6813C>A (p.Ser2271=) c.1-15418C>A (n.1-15418C>A) c.6069C>A (p.Ser2023=) c.6615C>A (p.Ser2205=) c.6432C>A (p.Ser2144=) c.6153C>A (p.Ser2051=) c.5196C>A (p.Ser1732=) c.5187C>A (p.Ser1729=) | |
| 5 | g.37049160C= | CA1539568382 | NIPBL | c.6813C= (p.Ser2271=) c.1-15418C= (n.1-15418C=) c.6069C= (p.Ser2023=) c.6615C= (p.Ser2205=) c.6432C= (p.Ser2144=) c.6153C= (p.Ser2051=) c.5196C= (p.Ser1732=) c.5187C= (p.Ser1729=) | |
| 5 | g.37049160C>G | CA443907923 | NIPBL | c.6813C>G (p.Ser2271=) c.1-15418C>G (n.1-15418C>G) c.6069C>G (p.Ser2023=) c.6615C>G (p.Ser2205=) c.6432C>G (p.Ser2144=) c.6153C>G (p.Ser2051=) c.5196C>G (p.Ser1732=) c.5187C>G (p.Ser1729=) | |
| 5 | g.37049160C>T | CA3237075 | NIPBL | c.6813C>T (p.Ser2271=) c.1-15418C>T (n.1-15418C>T) c.6069C>T (p.Ser2023=) c.6615C>T (p.Ser2205=) c.6432C>T (p.Ser2144=) c.6153C>T (p.Ser2051=) c.5196C>T (p.Ser1732=) c.5187C>T (p.Ser1729=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049161T>A | CA359508800 | NIPBL | c.6814T>A (p.Ser2272Thr) c.1-15417T>A (n.1-15417T>A) c.6070T>A (p.Ser2024Thr) c.6616T>A (p.Ser2206Thr) c.6433T>A (p.Ser2145Thr) c.6154T>A (p.Ser2052Thr) c.5197T>A (p.Ser1733Thr) c.5188T>A (p.Ser1730Thr) | |
| 5 | g.37049161T>C | CA359508801 | NIPBL | c.6814T>C (p.Ser2272Pro) c.1-15417T>C (n.1-15417T>C) c.6070T>C (p.Ser2024Pro) c.6616T>C (p.Ser2206Pro) c.6433T>C (p.Ser2145Pro) c.6154T>C (p.Ser2052Pro) c.5197T>C (p.Ser1733Pro) c.5188T>C (p.Ser1730Pro) | |
| 5 | g.37049161T>G | CA359508802 | NIPBL | c.6814T>G (p.Ser2272Ala) c.1-15417T>G (n.1-15417T>G) c.6070T>G (p.Ser2024Ala) c.6616T>G (p.Ser2206Ala) c.6433T>G (p.Ser2145Ala) c.6154T>G (p.Ser2052Ala) c.5197T>G (p.Ser1733Ala) c.5188T>G (p.Ser1730Ala) | |
| 5 | g.37049162C>A | CA359508803 | NIPBL | c.6815C>A (p.Ser2272Ter) c.1-15416C>A (n.1-15416C>A) c.6071C>A (p.Ser2024Ter) c.6617C>A (p.Ser2206Ter) c.6434C>A (p.Ser2145Ter) c.6155C>A (p.Ser2052Ter) c.5198C>A (p.Ser1733Ter) c.5189C>A (p.Ser1730Ter) | |
| 5 | g.37049162C= | CA1539568386 | NIPBL | c.6815C= (p.Ser2272=) c.1-15416C= (n.1-15416C=) c.6071C= (p.Ser2024=) c.6617C= (p.Ser2206=) c.6434C= (p.Ser2145=) c.6155C= (p.Ser2052=) c.5198C= (p.Ser1733=) c.5189C= (p.Ser1730=) | |
| 5 | g.37049162C>G | CA359508804 | NIPBL | c.6815C>G (p.Ser2272Ter) c.1-15416C>G (n.1-15416C>G) c.6071C>G (p.Ser2024Ter) c.6617C>G (p.Ser2206Ter) c.6434C>G (p.Ser2145Ter) c.6155C>G (p.Ser2052Ter) c.5198C>G (p.Ser1733Ter) c.5189C>G (p.Ser1730Ter) | |
| 5 | g.37049162C>T | CA359508805 | NIPBL | c.6815C>T (p.Ser2272Leu) c.1-15416C>T (n.1-15416C>T) c.6071C>T (p.Ser2024Leu) c.6617C>T (p.Ser2206Leu) c.6434C>T (p.Ser2145Leu) c.6155C>T (p.Ser2052Leu) c.5198C>T (p.Ser1733Leu) c.5189C>T (p.Ser1730Leu) | dbSNP COSMIC COSMIC |
| 5 | g.37049163A>C | CA443907934 | NIPBL | c.6816A>C (p.Ser2272=) c.1-15415A>C (n.1-15415A>C) c.6072A>C (p.Ser2024=) c.6618A>C (p.Ser2206=) c.6435A>C (p.Ser2145=) c.6156A>C (p.Ser2052=) c.5199A>C (p.Ser1733=) c.5190A>C (p.Ser1730=) | |
| 5 | g.37049163A>G | CA443907936 | NIPBL | c.6816A>G (p.Ser2272=) c.1-15415A>G (n.1-15415A>G) c.6072A>G (p.Ser2024=) c.6618A>G (p.Ser2206=) c.6435A>G (p.Ser2145=) c.6156A>G (p.Ser2052=) c.5199A>G (p.Ser1733=) c.5190A>G (p.Ser1730=) | |
| 5 | g.37049163A>T | CA443907938 | NIPBL | c.6816A>T (p.Ser2272=) c.1-15415A>T (n.1-15415A>T) c.6072A>T (p.Ser2024=) c.6618A>T (p.Ser2206=) c.6435A>T (p.Ser2145=) c.6156A>T (p.Ser2052=) c.5199A>T (p.Ser1733=) c.5190A>T (p.Ser1730=) | |
| 5 | g.37049164G>A | CA359508806 | NIPBL | c.6817G>A (p.Gly2273Arg) c.1-15414G>A (n.1-15414G>A) c.6073G>A (p.Gly2025Arg) c.6619G>A (p.Gly2207Arg) c.6436G>A (p.Gly2146Arg) c.6157G>A (p.Gly2053Arg) c.5200G>A (p.Gly1734Arg) c.5191G>A (p.Gly1731Arg) | |
| 5 | g.37049164G>C | CA359508807 | NIPBL | c.6817G>C (p.Gly2273Arg) c.1-15414G>C (n.1-15414G>C) c.6073G>C (p.Gly2025Arg) c.6619G>C (p.Gly2207Arg) c.6436G>C (p.Gly2146Arg) c.6157G>C (p.Gly2053Arg) c.5200G>C (p.Gly1734Arg) c.5191G>C (p.Gly1731Arg) | |
| 5 | g.37049164G>T | CA359508808 | NIPBL | c.6817G>T (p.Gly2273Trp) c.1-15414G>T (n.1-15414G>T) c.6073G>T (p.Gly2025Trp) c.6619G>T (p.Gly2207Trp) c.6436G>T (p.Gly2146Trp) c.6157G>T (p.Gly2053Trp) c.5200G>T (p.Gly1734Trp) c.5191G>T (p.Gly1731Trp) | |
| 5 | g.37049165G>A | CA359508811 | NIPBL | c.6818G>A (p.Gly2273Glu) c.1-15413G>A (n.1-15413G>A) c.6074G>A (p.Gly2025Glu) c.6620G>A (p.Gly2207Glu) c.6437G>A (p.Gly2146Glu) c.6158G>A (p.Gly2053Glu) c.5201G>A (p.Gly1734Glu) c.5192G>A (p.Gly1731Glu) | |
| 5 | g.37049165G>C | CA359508810 | NIPBL | c.6818G>C (p.Gly2273Ala) c.1-15413G>C (n.1-15413G>C) c.6074G>C (p.Gly2025Ala) c.6620G>C (p.Gly2207Ala) c.6437G>C (p.Gly2146Ala) c.6158G>C (p.Gly2053Ala) c.5201G>C (p.Gly1734Ala) c.5192G>C (p.Gly1731Ala) | |
| 5 | g.37049165G>T | CA359508809 | NIPBL | c.6818G>T (p.Gly2273Val) c.1-15413G>T (n.1-15413G>T) c.6074G>T (p.Gly2025Val) c.6620G>T (p.Gly2207Val) c.6437G>T (p.Gly2146Val) c.6158G>T (p.Gly2053Val) c.5201G>T (p.Gly1734Val) c.5192G>T (p.Gly1731Val) | |
| 5 | g.37049166G>A | CA3237076 | NIPBL | c.6819G>A (p.Gly2273=) c.1-15412G>A (n.1-15412G>A) c.6075G>A (p.Gly2025=) c.6621G>A (p.Gly2207=) c.6438G>A (p.Gly2146=) c.6159G>A (p.Gly2053=) c.5202G>A (p.Gly1734=) c.5193G>A (p.Gly1731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37049166G>C | CA443907952 | NIPBL | c.6819G>C (p.Gly2273=) c.1-15412G>C (n.1-15412G>C) c.6075G>C (p.Gly2025=) c.6621G>C (p.Gly2207=) c.6438G>C (p.Gly2146=) c.6159G>C (p.Gly2053=) c.5202G>C (p.Gly1734=) c.5193G>C (p.Gly1731=) | gnomAD v4 |
| 5 | g.37049166G= | CA1539568388 | NIPBL | c.6819G= (p.Gly2273=) c.1-15412G= (n.1-15412G=) c.6075G= (p.Gly2025=) c.6621G= (p.Gly2207=) c.6438G= (p.Gly2146=) c.6159G= (p.Gly2053=) c.5202G= (p.Gly1734=) c.5193G= (p.Gly1731=) | |
| 5 | g.37049166G>T | CA443907951 | NIPBL | c.6819G>T (p.Gly2273=) c.1-15412G>T (n.1-15412G>T) c.6075G>T (p.Gly2025=) c.6621G>T (p.Gly2207=) c.6438G>T (p.Gly2146=) c.6159G>T (p.Gly2053=) c.5202G>T (p.Gly1734=) c.5193G>T (p.Gly1731=) | ClinVar |
| 5 | g.37049167A>C | CA359508812 | NIPBL | c.6820A>C (p.Met2274Leu) c.1-15411A>C (n.1-15411A>C) c.6076A>C (p.Met2026Leu) c.6622A>C (p.Met2208Leu) c.6439A>C (p.Met2147Leu) c.6160A>C (p.Met2054Leu) c.5203A>C (p.Met1735Leu) c.5194A>C (p.Met1732Leu) | |
| 5 | g.37049167A>G | CA359508813 | NIPBL | c.6820A>G (p.Met2274Val) c.1-15411A>G (n.1-15411A>G) c.6076A>G (p.Met2026Val) c.6622A>G (p.Met2208Val) c.6439A>G (p.Met2147Val) c.6160A>G (p.Met2054Val) c.5203A>G (p.Met1735Val) c.5194A>G (p.Met1732Val) | |
| 5 | g.37049167A>T | CA359508814 | NIPBL | c.6820A>T (p.Met2274Leu) c.1-15411A>T (n.1-15411A>T) c.6076A>T (p.Met2026Leu) c.6622A>T (p.Met2208Leu) c.6439A>T (p.Met2147Leu) c.6160A>T (p.Met2054Leu) c.5203A>T (p.Met1735Leu) c.5194A>T (p.Met1732Leu) | gnomAD v4 |
| 5 | g.37049168T>A | CA359508815 | NIPBL | c.6821T>A (p.Met2274Lys) c.1-15410T>A (n.1-15410T>A) c.6077T>A (p.Met2026Lys) c.6623T>A (p.Met2208Lys) c.6440T>A (p.Met2147Lys) c.6161T>A (p.Met2054Lys) c.5204T>A (p.Met1735Lys) c.5195T>A (p.Met1732Lys) | |
| 5 | g.37049168T>C | CA359508816 | NIPBL | c.6821T>C (p.Met2274Thr) c.1-15410T>C (n.1-15410T>C) c.6077T>C (p.Met2026Thr) c.6623T>C (p.Met2208Thr) c.6440T>C (p.Met2147Thr) c.6161T>C (p.Met2054Thr) c.5204T>C (p.Met1735Thr) c.5195T>C (p.Met1732Thr) | |
| 5 | g.37049168T>G | CA359508817 | NIPBL | c.6821T>G (p.Met2274Arg) c.1-15410T>G (n.1-15410T>G) c.6077T>G (p.Met2026Arg) c.6623T>G (p.Met2208Arg) c.6440T>G (p.Met2147Arg) c.6161T>G (p.Met2054Arg) c.5204T>G (p.Met1735Arg) c.5195T>G (p.Met1732Arg) |