| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37015985A= | CA1539615576 | NIPBL | c.4644-53A= (n.4644-53A=) c.1-48593A= (n.1-48593A=) c.3900-53A= (n.3900-53A=) c.4446-53A= (n.4446-53A=) c.4263-53A= (n.4263-53A=) c.3984-53A= (n.3984-53A=) c.3027-53A= (n.3027-53A=) c.3018-53A= (n.3018-53A=) | |
| 5 | g.37015985A>C | CA1539615577 | NIPBL | c.4644-53A>C (n.4644-53A>C) c.1-48593A>C (n.1-48593A>C) c.3900-53A>C (n.3900-53A>C) c.4446-53A>C (n.4446-53A>C) c.4263-53A>C (n.4263-53A>C) c.3984-53A>C (n.3984-53A>C) c.3027-53A>C (n.3027-53A>C) c.3018-53A>C (n.3018-53A>C) | dbSNP |
| 5 | g.37015985A>G | CA2673551218 | NIPBL | c.4644-53A>G (n.4644-53A>G) c.1-48593A>G (n.1-48593A>G) c.3900-53A>G (n.3900-53A>G) c.4446-53A>G (n.4446-53A>G) c.4263-53A>G (n.4263-53A>G) c.3984-53A>G (n.3984-53A>G) c.3027-53A>G (n.3027-53A>G) c.3018-53A>G (n.3018-53A>G) | gnomAD v4 |
| 5 | g.37015986C>A | CA2673551219 | NIPBL | c.4644-52C>A (n.4644-52C>A) c.1-48592C>A (n.1-48592C>A) c.3900-52C>A (n.3900-52C>A) c.4446-52C>A (n.4446-52C>A) c.4263-52C>A (n.4263-52C>A) c.3984-52C>A (n.3984-52C>A) c.3027-52C>A (n.3027-52C>A) c.3018-52C>A (n.3018-52C>A) | gnomAD v4 |
| 5 | g.37015989A= | CA1539615579 | NIPBL | c.4644-49A= (n.4644-49A=) c.1-48589A= (n.1-48589A=) c.3900-49A= (n.3900-49A=) c.4446-49A= (n.4446-49A=) c.4263-49A= (n.4263-49A=) c.3984-49A= (n.3984-49A=) c.3027-49A= (n.3027-49A=) c.3018-49A= (n.3018-49A=) | |
| 5 | g.37015989A>G | CA2673551220 | NIPBL | c.4644-49A>G (n.4644-49A>G) c.1-48589A>G (n.1-48589A>G) c.3900-49A>G (n.3900-49A>G) c.4446-49A>G (n.4446-49A>G) c.4263-49A>G (n.4263-49A>G) c.3984-49A>G (n.3984-49A>G) c.3027-49A>G (n.3027-49A>G) c.3018-49A>G (n.3018-49A>G) | gnomAD v4 |
| 5 | g.37015990C>A | CA2673551221 | NIPBL | c.4644-48C>A (n.4644-48C>A) c.1-48588C>A (n.1-48588C>A) c.3900-48C>A (n.3900-48C>A) c.4446-48C>A (n.4446-48C>A) c.4263-48C>A (n.4263-48C>A) c.3984-48C>A (n.3984-48C>A) c.3027-48C>A (n.3027-48C>A) c.3018-48C>A (n.3018-48C>A) | gnomAD v4 |
| 5 | g.37015990C= | CA1539615583 | NIPBL | c.4644-48C= (n.4644-48C=) c.1-48588C= (n.1-48588C=) c.3900-48C= (n.3900-48C=) c.4446-48C= (n.4446-48C=) c.4263-48C= (n.4263-48C=) c.3984-48C= (n.3984-48C=) c.3027-48C= (n.3027-48C=) c.3018-48C= (n.3018-48C=) | |
| 5 | g.37015990C>T | CA117025865 | NIPBL | c.4644-48C>T (n.4644-48C>T) c.1-48588C>T (n.1-48588C>T) c.3900-48C>T (n.3900-48C>T) c.4446-48C>T (n.4446-48C>T) c.4263-48C>T (n.4263-48C>T) c.3984-48C>T (n.3984-48C>T) c.3027-48C>T (n.3027-48C>T) c.3018-48C>T (n.3018-48C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37015990dup | CA1075104362 | NIPBL | c.4644-48dup (n.4644-48dup) c.1-48588dup (n.1-48588dup) c.3900-48dup (n.3900-48dup) c.4446-48dup (n.4446-48dup) c.4263-48dup (n.4263-48dup) c.3984-48dup (n.3984-48dup) c.3027-48dup (n.3027-48dup) c.3018-48dup (n.3018-48dup) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37015990_37015992delinsCAT | CA1539615584 | NIPBL | c.4644-48_4644-46delinsCAT (n.4644-48_4644-46delinsCAT) c.1-48588_1-48586delinsCAT (n.1-48588_1-48586delinsCAT) c.3900-48_3900-46delinsCAT (n.3900-48_3900-46delinsCAT) c.4446-48_4446-46delinsCAT (n.4446-48_4446-46delinsCAT) c.4263-48_4263-46delinsCAT (n.4263-48_4263-46delinsCAT) c.3984-48_3984-46delinsCAT (n.3984-48_3984-46delinsCAT) c.3027-48_3027-46delinsCAT (n.3027-48_3027-46delinsCAT) c.3018-48_3018-46delinsCAT (n.3018-48_3018-46delinsCAT) | |
| 5 | g.37015991A= | CA1539615589 | NIPBL | c.4644-47A= (n.4644-47A=) c.1-48587A= (n.1-48587A=) c.3900-47A= (n.3900-47A=) c.4446-47A= (n.4446-47A=) c.4263-47A= (n.4263-47A=) c.3984-47A= (n.3984-47A=) c.3027-47A= (n.3027-47A=) c.3018-47A= (n.3018-47A=) | |
| 5 | g.37015991A>G | CA3236607 | NIPBL | c.4644-47A>G (n.4644-47A>G) c.1-48587A>G (n.1-48587A>G) c.3900-47A>G (n.3900-47A>G) c.4446-47A>G (n.4446-47A>G) c.4263-47A>G (n.4263-47A>G) c.3984-47A>G (n.3984-47A>G) c.3027-47A>G (n.3027-47A>G) c.3018-47A>G (n.3018-47A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37015991_37015992del | CA559014371 | NIPBL | c.4644-47_4644-46del (n.4644-47_4644-46del) c.1-48587_1-48586del (n.1-48587_1-48586del) c.3900-47_3900-46del (n.3900-47_3900-46del) c.4446-47_4446-46del (n.4446-47_4446-46del) c.4263-47_4263-46del (n.4263-47_4263-46del) c.3984-47_3984-46del (n.3984-47_3984-46del) c.3027-47_3027-46del (n.3027-47_3027-46del) c.3018-47_3018-46del (n.3018-47_3018-46del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37015992T>A | CA2673551222 | NIPBL | c.4644-46T>A (n.4644-46T>A) c.1-48586T>A (n.1-48586T>A) c.3900-46T>A (n.3900-46T>A) c.4446-46T>A (n.4446-46T>A) c.4263-46T>A (n.4263-46T>A) c.3984-46T>A (n.3984-46T>A) c.3027-46T>A (n.3027-46T>A) c.3018-46T>A (n.3018-46T>A) | gnomAD v4 |
| 5 | g.37015993G>A | CA1539615592 | NIPBL | c.4644-45G>A (n.4644-45G>A) c.1-48585G>A (n.1-48585G>A) c.3900-45G>A (n.3900-45G>A) c.4446-45G>A (n.4446-45G>A) c.4263-45G>A (n.4263-45G>A) c.3984-45G>A (n.3984-45G>A) c.3027-45G>A (n.3027-45G>A) c.3018-45G>A (n.3018-45G>A) | dbSNP gnomAD v4 |
| 5 | g.37015993G>C | CA2673551223 | NIPBL | c.4644-45G>C (n.4644-45G>C) c.1-48585G>C (n.1-48585G>C) c.3900-45G>C (n.3900-45G>C) c.4446-45G>C (n.4446-45G>C) c.4263-45G>C (n.4263-45G>C) c.3984-45G>C (n.3984-45G>C) c.3027-45G>C (n.3027-45G>C) c.3018-45G>C (n.3018-45G>C) | gnomAD v4 |
| 5 | g.37015993G= | CA1539615590 | NIPBL | c.4644-45G= (n.4644-45G=) c.1-48585G= (n.1-48585G=) c.3900-45G= (n.3900-45G=) c.4446-45G= (n.4446-45G=) c.4263-45G= (n.4263-45G=) c.3984-45G= (n.3984-45G=) c.3027-45G= (n.3027-45G=) c.3018-45G= (n.3018-45G=) | |
| 5 | g.37015995G>A | CA1539615595 | NIPBL | c.4644-43G>A (n.4644-43G>A) c.1-48583G>A (n.1-48583G>A) c.3900-43G>A (n.3900-43G>A) c.4446-43G>A (n.4446-43G>A) c.4263-43G>A (n.4263-43G>A) c.3984-43G>A (n.3984-43G>A) c.3027-43G>A (n.3027-43G>A) c.3018-43G>A (n.3018-43G>A) | dbSNP gnomAD v4 |
| 5 | g.37015995G= | CA1539615594 | NIPBL | c.4644-43G= (n.4644-43G=) c.1-48583G= (n.1-48583G=) c.3900-43G= (n.3900-43G=) c.4446-43G= (n.4446-43G=) c.4263-43G= (n.4263-43G=) c.3984-43G= (n.3984-43G=) c.3027-43G= (n.3027-43G=) c.3018-43G= (n.3018-43G=) | |
| 5 | g.37015997C= | CA1539615596 | NIPBL | c.4644-41C= (n.4644-41C=) c.1-48581C= (n.1-48581C=) c.3900-41C= (n.3900-41C=) c.4446-41C= (n.4446-41C=) c.4263-41C= (n.4263-41C=) c.3984-41C= (n.3984-41C=) c.3027-41C= (n.3027-41C=) c.3018-41C= (n.3018-41C=) | |
| 5 | g.37015997C>T | CA559014372 | NIPBL | c.4644-41C>T (n.4644-41C>T) c.1-48581C>T (n.1-48581C>T) c.3900-41C>T (n.3900-41C>T) c.4446-41C>T (n.4446-41C>T) c.4263-41C>T (n.4263-41C>T) c.3984-41C>T (n.3984-41C>T) c.3027-41C>T (n.3027-41C>T) c.3018-41C>T (n.3018-41C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37015998A= | CA1539615598 | NIPBL | c.4644-40A= (n.4644-40A=) c.1-48580A= (n.1-48580A=) c.3900-40A= (n.3900-40A=) c.4446-40A= (n.4446-40A=) c.4263-40A= (n.4263-40A=) c.3984-40A= (n.3984-40A=) c.3027-40A= (n.3027-40A=) c.3018-40A= (n.3018-40A=) | |
| 5 | g.37015998A>T | CA1539615599 | NIPBL | c.4644-40A>T (n.4644-40A>T) c.1-48580A>T (n.1-48580A>T) c.3900-40A>T (n.3900-40A>T) c.4446-40A>T (n.4446-40A>T) c.4263-40A>T (n.4263-40A>T) c.3984-40A>T (n.3984-40A>T) c.3027-40A>T (n.3027-40A>T) c.3018-40A>T (n.3018-40A>T) | dbSNP |
| 5 | g.37015999C>T | CA2673551224 | NIPBL | c.4644-39C>T (n.4644-39C>T) c.1-48579C>T (n.1-48579C>T) c.3900-39C>T (n.3900-39C>T) c.4446-39C>T (n.4446-39C>T) c.4263-39C>T (n.4263-39C>T) c.3984-39C>T (n.3984-39C>T) c.3027-39C>T (n.3027-39C>T) c.3018-39C>T (n.3018-39C>T) | gnomAD v4 |
| 5 | g.37016002A= | CA1539615600 | NIPBL | c.4644-36A= (n.4644-36A=) c.1-48576A= (n.1-48576A=) c.3900-36A= (n.3900-36A=) c.4446-36A= (n.4446-36A=) c.4263-36A= (n.4263-36A=) c.3984-36A= (n.3984-36A=) c.3027-36A= (n.3027-36A=) c.3018-36A= (n.3018-36A=) | |
| 5 | g.37016002A>G | CA810284628 | NIPBL | c.4644-36A>G (n.4644-36A>G) c.1-48576A>G (n.1-48576A>G) c.3900-36A>G (n.3900-36A>G) c.4446-36A>G (n.4446-36A>G) c.4263-36A>G (n.4263-36A>G) c.3984-36A>G (n.3984-36A>G) c.3027-36A>G (n.3027-36A>G) c.3018-36A>G (n.3018-36A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37016004del | CA2578289296 | NIPBL | c.4644-34del (n.4644-34del) c.1-48574del (n.1-48574del) c.3900-34del (n.3900-34del) c.4446-34del (n.4446-34del) c.4263-34del (n.4263-34del) c.3984-34del (n.3984-34del) c.3027-34del (n.3027-34del) c.3018-34del (n.3018-34del) | |
| 5 | g.37016004A= | CA1539615602 | NIPBL | c.4644-34A= (n.4644-34A=) c.1-48574A= (n.1-48574A=) c.3900-34A= (n.3900-34A=) c.4446-34A= (n.4446-34A=) c.4263-34A= (n.4263-34A=) c.3984-34A= (n.3984-34A=) c.3027-34A= (n.3027-34A=) c.3018-34A= (n.3018-34A=) | |
| 5 | g.37016004A>G | CA3236608 | NIPBL | c.4644-34A>G (n.4644-34A>G) c.1-48574A>G (n.1-48574A>G) c.3900-34A>G (n.3900-34A>G) c.4446-34A>G (n.4446-34A>G) c.4263-34A>G (n.4263-34A>G) c.3984-34A>G (n.3984-34A>G) c.3027-34A>G (n.3027-34A>G) c.3018-34A>G (n.3018-34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016005T>A | CA117025873 | NIPBL | c.4644-33T>A (n.4644-33T>A) c.1-48573T>A (n.1-48573T>A) c.3900-33T>A (n.3900-33T>A) c.4446-33T>A (n.4446-33T>A) c.4263-33T>A (n.4263-33T>A) c.3984-33T>A (n.3984-33T>A) c.3027-33T>A (n.3027-33T>A) c.3018-33T>A (n.3018-33T>A) | dbSNP |
| 5 | g.37016005T>C | CA1539615607 | NIPBL | c.4644-33T>C (n.4644-33T>C) c.1-48573T>C (n.1-48573T>C) c.3900-33T>C (n.3900-33T>C) c.4446-33T>C (n.4446-33T>C) c.4263-33T>C (n.4263-33T>C) c.3984-33T>C (n.3984-33T>C) c.3027-33T>C (n.3027-33T>C) c.3018-33T>C (n.3018-33T>C) | dbSNP gnomAD v4 |
| 5 | g.37016005T= | CA1539615605 | NIPBL | c.4644-33T= (n.4644-33T=) c.1-48573T= (n.1-48573T=) c.3900-33T= (n.3900-33T=) c.4446-33T= (n.4446-33T=) c.4263-33T= (n.4263-33T=) c.3984-33T= (n.3984-33T=) c.3027-33T= (n.3027-33T=) c.3018-33T= (n.3018-33T=) | |
| 5 | g.37016006T= | CA1539615608 | NIPBL | c.4644-32T= (n.4644-32T=) c.1-48572T= (n.1-48572T=) c.3900-32T= (n.3900-32T=) c.4446-32T= (n.4446-32T=) c.4263-32T= (n.4263-32T=) c.3984-32T= (n.3984-32T=) c.3027-32T= (n.3027-32T=) c.3018-32T= (n.3018-32T=) | |
| 5 | g.37016006_37016007insTA | CA3236609 | NIPBL | c.4644-32_4644-31insTA (n.4644-32_4644-31insTA) c.1-48572_1-48571insTA (n.1-48572_1-48571insTA) c.3900-32_3900-31insTA (n.3900-32_3900-31insTA) c.4446-32_4446-31insTA (n.4446-32_4446-31insTA) c.4263-32_4263-31insTA (n.4263-32_4263-31insTA) c.3984-32_3984-31insTA (n.3984-32_3984-31insTA) c.3027-32_3027-31insTA (n.3027-32_3027-31insTA) c.3018-32_3018-31insTA (n.3018-32_3018-31insTA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016007G>A | CA2673551225 | NIPBL | c.4644-31G>A (n.4644-31G>A) c.1-48571G>A (n.1-48571G>A) c.3900-31G>A (n.3900-31G>A) c.4446-31G>A (n.4446-31G>A) c.4263-31G>A (n.4263-31G>A) c.3984-31G>A (n.3984-31G>A) c.3027-31G>A (n.3027-31G>A) c.3018-31G>A (n.3018-31G>A) | gnomAD v4 |
| 5 | g.37016007G>T | CA2673551226 | NIPBL | c.4644-31G>T (n.4644-31G>T) c.1-48571G>T (n.1-48571G>T) c.3900-31G>T (n.3900-31G>T) c.4446-31G>T (n.4446-31G>T) c.4263-31G>T (n.4263-31G>T) c.3984-31G>T (n.3984-31G>T) c.3027-31G>T (n.3027-31G>T) c.3018-31G>T (n.3018-31G>T) | gnomAD v4 |
| 5 | g.37016009C= | CA1539615610 | NIPBL | c.4644-29C= (n.4644-29C=) c.1-48569C= (n.1-48569C=) c.3900-29C= (n.3900-29C=) c.4446-29C= (n.4446-29C=) c.4263-29C= (n.4263-29C=) c.3984-29C= (n.3984-29C=) c.3027-29C= (n.3027-29C=) c.3018-29C= (n.3018-29C=) | |
| 5 | g.37016009C>T | CA1539615611 | NIPBL | c.4644-29C>T (n.4644-29C>T) c.1-48569C>T (n.1-48569C>T) c.3900-29C>T (n.3900-29C>T) c.4446-29C>T (n.4446-29C>T) c.4263-29C>T (n.4263-29C>T) c.3984-29C>T (n.3984-29C>T) c.3027-29C>T (n.3027-29C>T) c.3018-29C>T (n.3018-29C>T) | dbSNP gnomAD v4 |
| 5 | g.37016010A= | CA1539615613 | NIPBL | c.4644-28A= (n.4644-28A=) c.1-48568A= (n.1-48568A=) c.3900-28A= (n.3900-28A=) c.4446-28A= (n.4446-28A=) c.4263-28A= (n.4263-28A=) c.3984-28A= (n.3984-28A=) c.3027-28A= (n.3027-28A=) c.3018-28A= (n.3018-28A=) | |
| 5 | g.37016010A>G | CA559014373 | NIPBL | c.4644-28A>G (n.4644-28A>G) c.1-48568A>G (n.1-48568A>G) c.3900-28A>G (n.3900-28A>G) c.4446-28A>G (n.4446-28A>G) c.4263-28A>G (n.4263-28A>G) c.3984-28A>G (n.3984-28A>G) c.3027-28A>G (n.3027-28A>G) c.3018-28A>G (n.3018-28A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016011T>A | CA2578289297 | NIPBL | c.4644-27T>A (n.4644-27T>A) c.1-48567T>A (n.1-48567T>A) c.3900-27T>A (n.3900-27T>A) c.4446-27T>A (n.4446-27T>A) c.4263-27T>A (n.4263-27T>A) c.3984-27T>A (n.3984-27T>A) c.3027-27T>A (n.3027-27T>A) c.3018-27T>A (n.3018-27T>A) | |
| 5 | g.37016011T>C | CA2673551227 | NIPBL | c.4644-27T>C (n.4644-27T>C) c.1-48567T>C (n.1-48567T>C) c.3900-27T>C (n.3900-27T>C) c.4446-27T>C (n.4446-27T>C) c.4263-27T>C (n.4263-27T>C) c.3984-27T>C (n.3984-27T>C) c.3027-27T>C (n.3027-27T>C) c.3018-27T>C (n.3018-27T>C) | gnomAD v4 |
| 5 | g.37016012C>T | CA2673551228 | NIPBL | c.4644-26C>T (n.4644-26C>T) c.1-48566C>T (n.1-48566C>T) c.3900-26C>T (n.3900-26C>T) c.4446-26C>T (n.4446-26C>T) c.4263-26C>T (n.4263-26C>T) c.3984-26C>T (n.3984-26C>T) c.3027-26C>T (n.3027-26C>T) c.3018-26C>T (n.3018-26C>T) | gnomAD v4 |
| 5 | g.37016013_37016014delinsCT | CA1539615615 | NIPBL | c.4644-25_4644-24delinsCT (n.4644-25_4644-24delinsCT) c.1-48565_1-48564delinsCT (n.1-48565_1-48564delinsCT) c.3900-25_3900-24delinsCT (n.3900-25_3900-24delinsCT) c.4446-25_4446-24delinsCT (n.4446-25_4446-24delinsCT) c.4263-25_4263-24delinsCT (n.4263-25_4263-24delinsCT) c.3984-25_3984-24delinsCT (n.3984-25_3984-24delinsCT) c.3027-25_3027-24delinsCT (n.3027-25_3027-24delinsCT) c.3018-25_3018-24delinsCT (n.3018-25_3018-24delinsCT) | |
| 5 | g.37016014T>C | CA2673551229 | NIPBL | c.4644-24T>C (n.4644-24T>C) c.1-48564T>C (n.1-48564T>C) c.3900-24T>C (n.3900-24T>C) c.4446-24T>C (n.4446-24T>C) c.4263-24T>C (n.4263-24T>C) c.3984-24T>C (n.3984-24T>C) c.3027-24T>C (n.3027-24T>C) c.3018-24T>C (n.3018-24T>C) | gnomAD v4 |
| 5 | g.37016017del | CA1539615617 | NIPBL | c.4644-21del (n.4644-21del) c.1-48561del (n.1-48561del) c.3900-21del (n.3900-21del) c.4446-21del (n.4446-21del) c.4263-21del (n.4263-21del) c.3984-21del (n.3984-21del) c.3027-21del (n.3027-21del) c.3018-21del (n.3018-21del) | dbSNP gnomAD v4 |
| 5 | g.37016016_37016018del | CA2673551230 | NIPBL | c.4644-22_4644-20del (n.4644-22_4644-20del) c.1-48562_1-48560del (n.1-48562_1-48560del) c.3900-22_3900-20del (n.3900-22_3900-20del) c.4446-22_4446-20del (n.4446-22_4446-20del) c.4263-22_4263-20del (n.4263-22_4263-20del) c.3984-22_3984-20del (n.3984-22_3984-20del) c.3027-22_3027-20del (n.3027-22_3027-20del) c.3018-22_3018-20del (n.3018-22_3018-20del) | gnomAD v4 |
| 5 | g.37016022A= | CA1539615620 | NIPBL | c.4644-16A= (n.4644-16A=) c.1-48556A= (n.1-48556A=) c.3900-16A= (n.3900-16A=) c.4446-16A= (n.4446-16A=) c.4263-16A= (n.4263-16A=) c.3984-16A= (n.3984-16A=) c.3027-16A= (n.3027-16A=) c.3018-16A= (n.3018-16A=) | |
| 5 | g.37016022A>G | CA559014374 | NIPBL | c.4644-16A>G (n.4644-16A>G) c.1-48556A>G (n.1-48556A>G) c.3900-16A>G (n.3900-16A>G) c.4446-16A>G (n.4446-16A>G) c.4263-16A>G (n.4263-16A>G) c.3984-16A>G (n.3984-16A>G) c.3027-16A>G (n.3027-16A>G) c.3018-16A>G (n.3018-16A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016024T>A | CA559014375 | NIPBL | c.4644-14T>A (n.4644-14T>A) c.1-48554T>A (n.1-48554T>A) c.3900-14T>A (n.3900-14T>A) c.4446-14T>A (n.4446-14T>A) c.4263-14T>A (n.4263-14T>A) c.3984-14T>A (n.3984-14T>A) c.3027-14T>A (n.3027-14T>A) c.3018-14T>A (n.3018-14T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016024T= | CA1539615622 | NIPBL | c.4644-14T= (n.4644-14T=) c.1-48554T= (n.1-48554T=) c.3900-14T= (n.3900-14T=) c.4446-14T= (n.4446-14T=) c.4263-14T= (n.4263-14T=) c.3984-14T= (n.3984-14T=) c.3027-14T= (n.3027-14T=) c.3018-14T= (n.3018-14T=) | |
| 5 | g.37016026G= | CA1539615625 | NIPBL | c.4644-12G= (n.4644-12G=) c.1-48552G= (n.1-48552G=) c.3900-12G= (n.3900-12G=) c.4446-12G= (n.4446-12G=) c.4263-12G= (n.4263-12G=) c.3984-12G= (n.3984-12G=) c.3027-12G= (n.3027-12G=) c.3018-12G= (n.3018-12G=) | |
| 5 | g.37016026G>T | CA810284633 | NIPBL | c.4644-12G>T (n.4644-12G>T) c.1-48552G>T (n.1-48552G>T) c.3900-12G>T (n.3900-12G>T) c.4446-12G>T (n.4446-12G>T) c.4263-12G>T (n.4263-12G>T) c.3984-12G>T (n.3984-12G>T) c.3027-12G>T (n.3027-12G>T) c.3018-12G>T (n.3018-12G>T) | dbSNP |
| 5 | g.37016027C>T | CA2708538430 | NIPBL | c.4644-11C>T (n.4644-11C>T) c.1-48551C>T (n.1-48551C>T) c.3900-11C>T (n.3900-11C>T) c.4446-11C>T (n.4446-11C>T) c.4263-11C>T (n.4263-11C>T) c.3984-11C>T (n.3984-11C>T) c.3027-11C>T (n.3027-11C>T) c.3018-11C>T (n.3018-11C>T) | dbSNP |
| 5 | g.37016031del | CA2673551231 | NIPBL | c.4644-7del (n.4644-7del) c.1-48547del (n.1-48547del) c.3900-7del (n.3900-7del) c.4446-7del (n.4446-7del) c.4263-7del (n.4263-7del) c.3984-7del (n.3984-7del) c.3027-7del (n.3027-7del) c.3018-7del (n.3018-7del) | gnomAD v4 |
| 5 | g.37016031T>G | CA559014376 | NIPBL | c.4644-7T>G (n.4644-7T>G) c.1-48547T>G (n.1-48547T>G) c.3900-7T>G (n.3900-7T>G) c.4446-7T>G (n.4446-7T>G) c.4263-7T>G (n.4263-7T>G) c.3984-7T>G (n.3984-7T>G) c.3027-7T>G (n.3027-7T>G) c.3018-7T>G (n.3018-7T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016031T= | CA1539615627 | NIPBL | c.4644-7T= (n.4644-7T=) c.1-48547T= (n.1-48547T=) c.3900-7T= (n.3900-7T=) c.4446-7T= (n.4446-7T=) c.4263-7T= (n.4263-7T=) c.3984-7T= (n.3984-7T=) c.3027-7T= (n.3027-7T=) c.3018-7T= (n.3018-7T=) | |
| 5 | g.37016032G>T | CA2765897859 | NIPBL | c.4644-6G>T (n.4644-6G>T) c.1-48546G>T (n.1-48546G>T) c.3900-6G>T (n.3900-6G>T) c.4446-6G>T (n.4446-6G>T) c.4263-6G>T (n.4263-6G>T) c.3984-6G>T (n.3984-6G>T) c.3027-6G>T (n.3027-6G>T) c.3018-6G>T (n.3018-6G>T) | |
| 5 | g.37016034del | CA2578289298 | NIPBL | c.4644-4del (n.4644-4del) c.1-48544del (n.1-48544del) c.3900-4del (n.3900-4del) c.4446-4del (n.4446-4del) c.4263-4del (n.4263-4del) c.3984-4del (n.3984-4del) c.3027-4del (n.3027-4del) c.3018-4del (n.3018-4del) | |
| 5 | g.37016036A>C | CA359481962 | NIPBL | c.4644-2A>C (n.4644-2A>C) c.1-48542A>C (n.1-48542A>C) c.3900-2A>C (n.3900-2A>C) c.4446-2A>C (n.4446-2A>C) c.4263-2A>C (n.4263-2A>C) c.3984-2A>C (n.3984-2A>C) c.3027-2A>C (n.3027-2A>C) c.3018-2A>C (n.3018-2A>C) | |
| 5 | g.37016036A>G | CA359481965 | NIPBL | c.4644-2A>G (n.4644-2A>G) c.1-48542A>G (n.1-48542A>G) c.3900-2A>G (n.3900-2A>G) c.4446-2A>G (n.4446-2A>G) c.4263-2A>G (n.4263-2A>G) c.3984-2A>G (n.3984-2A>G) c.3027-2A>G (n.3027-2A>G) c.3018-2A>G (n.3018-2A>G) | |
| 5 | g.37016036A>T | CA359481967 | NIPBL | c.4644-2A>T (n.4644-2A>T) c.1-48542A>T (n.1-48542A>T) c.3900-2A>T (n.3900-2A>T) c.4446-2A>T (n.4446-2A>T) c.4263-2A>T (n.4263-2A>T) c.3984-2A>T (n.3984-2A>T) c.3027-2A>T (n.3027-2A>T) c.3018-2A>T (n.3018-2A>T) | |
| 5 | g.37016037G>A | CA359481979 | NIPBL | c.4644-1G>A (n.4644-1G>A) c.1-48541G>A (n.1-48541G>A) c.3900-1G>A (n.3900-1G>A) c.4446-1G>A (n.4446-1G>A) c.4263-1G>A (n.4263-1G>A) c.3984-1G>A (n.3984-1G>A) c.3027-1G>A (n.3027-1G>A) c.3018-1G>A (n.3018-1G>A) | |
| 5 | g.37016037G>C | CA359481980 | NIPBL | c.4644-1G>C (n.4644-1G>C) c.1-48541G>C (n.1-48541G>C) c.3900-1G>C (n.3900-1G>C) c.4446-1G>C (n.4446-1G>C) c.4263-1G>C (n.4263-1G>C) c.3984-1G>C (n.3984-1G>C) c.3027-1G>C (n.3027-1G>C) c.3018-1G>C (n.3018-1G>C) | |
| 5 | g.37016037G>T | CA359481984 | NIPBL | c.4644-1G>T (n.4644-1G>T) c.1-48541G>T (n.1-48541G>T) c.3900-1G>T (n.3900-1G>T) c.4446-1G>T (n.4446-1G>T) c.4263-1G>T (n.4263-1G>T) c.3984-1G>T (n.3984-1G>T) c.3027-1G>T (n.3027-1G>T) c.3018-1G>T (n.3018-1G>T) | |
| 5 | g.37016038A>C | CA359481991 | NIPBL | c.4644A>C (p.Lys1548Asn) c.1-48540A>C (n.1-48540A>C) c.3900A>C (p.Lys1300Asn) c.4446A>C (p.Lys1482Asn) c.4263A>C (p.Lys1421Asn) c.3984A>C (p.Lys1328Asn) c.3027A>C (p.Lys1009Asn) c.3018A>C (p.Lys1006Asn) | |
| 5 | g.37016038A>G | CA443904429 | NIPBL | c.4644A>G (p.Lys1548=) c.1-48540A>G (n.1-48540A>G) c.3900A>G (p.Lys1300=) c.4446A>G (p.Lys1482=) c.4263A>G (p.Lys1421=) c.3984A>G (p.Lys1328=) c.3027A>G (p.Lys1009=) c.3018A>G (p.Lys1006=) | |
| 5 | g.37016038A>T | CA359481988 | NIPBL | c.4644A>T (p.Lys1548Asn) c.1-48540A>T (n.1-48540A>T) c.3900A>T (p.Lys1300Asn) c.4446A>T (p.Lys1482Asn) c.4263A>T (p.Lys1421Asn) c.3984A>T (p.Lys1328Asn) c.3027A>T (p.Lys1009Asn) c.3018A>T (p.Lys1006Asn) | |
| 5 | g.37016039T>A | CA359481994 | NIPBL | c.4645T>A (p.Cys1549Ser) c.1-48539T>A (n.1-48539T>A) c.3901T>A (p.Cys1301Ser) c.4447T>A (p.Cys1483Ser) c.4264T>A (p.Cys1422Ser) c.3985T>A (p.Cys1329Ser) c.3028T>A (p.Cys1010Ser) c.3019T>A (p.Cys1007Ser) | |
| 5 | g.37016039T>C | CA359481995 | NIPBL | c.4645T>C (p.Cys1549Arg) c.1-48539T>C (n.1-48539T>C) c.3901T>C (p.Cys1301Arg) c.4447T>C (p.Cys1483Arg) c.4264T>C (p.Cys1422Arg) c.3985T>C (p.Cys1329Arg) c.3028T>C (p.Cys1010Arg) c.3019T>C (p.Cys1007Arg) | |
| 5 | g.37016039T>G | CA359481998 | NIPBL | c.4645T>G (p.Cys1549Gly) c.1-48539T>G (n.1-48539T>G) c.3901T>G (p.Cys1301Gly) c.4447T>G (p.Cys1483Gly) c.4264T>G (p.Cys1422Gly) c.3985T>G (p.Cys1329Gly) c.3028T>G (p.Cys1010Gly) c.3019T>G (p.Cys1007Gly) | |
| 5 | g.37016040G>A | CA359482000 | NIPBL | c.4646G>A (p.Cys1549Tyr) c.1-48538G>A (n.1-48538G>A) c.3902G>A (p.Cys1301Tyr) c.4448G>A (p.Cys1483Tyr) c.4265G>A (p.Cys1422Tyr) c.3986G>A (p.Cys1329Tyr) c.3029G>A (p.Cys1010Tyr) c.3020G>A (p.Cys1007Tyr) | |
| 5 | g.37016040G>C | CA359482001 | NIPBL | c.4646G>C (p.Cys1549Ser) c.1-48538G>C (n.1-48538G>C) c.3902G>C (p.Cys1301Ser) c.4448G>C (p.Cys1483Ser) c.4265G>C (p.Cys1422Ser) c.3986G>C (p.Cys1329Ser) c.3029G>C (p.Cys1010Ser) c.3020G>C (p.Cys1007Ser) | |
| 5 | g.37016040G>T | CA359482009 | NIPBL | c.4646G>T (p.Cys1549Phe) c.1-48538G>T (n.1-48538G>T) c.3902G>T (p.Cys1301Phe) c.4448G>T (p.Cys1483Phe) c.4265G>T (p.Cys1422Phe) c.3986G>T (p.Cys1329Phe) c.3029G>T (p.Cys1010Phe) c.3020G>T (p.Cys1007Phe) | |
| 5 | g.37016042_37016044del | CA2673551233 | NIPBL | c.4648_4650del (p.Gly1550del) c.1-48536_1-48534del (n.1-48536_1-48534del) c.3904_3906del (p.Gly1302del) c.4450_4452del (p.Gly1484del) c.4267_4269del (p.Gly1423del) c.3988_3990del (p.Gly1330del) c.3031_3033del (p.Gly1011del) c.3022_3024del (p.Gly1008del) | gnomAD v4 |
| 5 | g.37016041T>A | CA359482016 | NIPBL | c.4647T>A (p.Cys1549Ter) c.1-48537T>A (n.1-48537T>A) c.3903T>A (p.Cys1301Ter) c.4449T>A (p.Cys1483Ter) c.4266T>A (p.Cys1422Ter) c.3987T>A (p.Cys1329Ter) c.3030T>A (p.Cys1010Ter) c.3021T>A (p.Cys1007Ter) | |
| 5 | g.37016041T>C | CA443904430 | NIPBL | c.4647T>C (p.Cys1549=) c.1-48537T>C (n.1-48537T>C) c.3903T>C (p.Cys1301=) c.4449T>C (p.Cys1483=) c.4266T>C (p.Cys1422=) c.3987T>C (p.Cys1329=) c.3030T>C (p.Cys1010=) c.3021T>C (p.Cys1007=) | |
| 5 | g.37016041T>G | CA359482019 | NIPBL | c.4647T>G (p.Cys1549Trp) c.1-48537T>G (n.1-48537T>G) c.3903T>G (p.Cys1301Trp) c.4449T>G (p.Cys1483Trp) c.4266T>G (p.Cys1422Trp) c.3987T>G (p.Cys1329Trp) c.3030T>G (p.Cys1010Trp) c.3021T>G (p.Cys1007Trp) | |
| 5 | g.37016042G>A | CA359482022 | NIPBL | c.4648G>A (p.Gly1550Ser) c.1-48536G>A (n.1-48536G>A) c.3904G>A (p.Gly1302Ser) c.4450G>A (p.Gly1484Ser) c.4267G>A (p.Gly1423Ser) c.3988G>A (p.Gly1330Ser) c.3031G>A (p.Gly1011Ser) c.3022G>A (p.Gly1008Ser) | |
| 5 | g.37016042G>C | CA359482025 | NIPBL | c.4648G>C (p.Gly1550Arg) c.1-48536G>C (n.1-48536G>C) c.3904G>C (p.Gly1302Arg) c.4450G>C (p.Gly1484Arg) c.4267G>C (p.Gly1423Arg) c.3988G>C (p.Gly1330Arg) c.3031G>C (p.Gly1011Arg) c.3022G>C (p.Gly1008Arg) | |
| 5 | g.37016042G>T | CA359482026 | NIPBL | c.4648G>T (p.Gly1550Cys) c.1-48536G>T (n.1-48536G>T) c.3904G>T (p.Gly1302Cys) c.4450G>T (p.Gly1484Cys) c.4267G>T (p.Gly1423Cys) c.3988G>T (p.Gly1330Cys) c.3031G>T (p.Gly1011Cys) c.3022G>T (p.Gly1008Cys) | gnomAD v4 |
| 5 | g.37016043del | CA2578289299 | NIPBL | c.4649del (p.Gly1550ValfsTer?) c.1-48535del (n.1-48535del) c.3905del (p.Gly1302ValfsTer?) c.4451del (p.Gly1484ValfsTer?) c.4268del (p.Gly1423ValfsTer?) c.3989del (p.Gly1330ValfsTer?) c.3032del (p.Gly1011ValfsTer?) c.3023del (p.Gly1008ValfsTer?) | |
| 5 | g.37016043G>A | CA359482028 | NIPBL | c.4649G>A (p.Gly1550Asp) c.1-48535G>A (n.1-48535G>A) c.3905G>A (p.Gly1302Asp) c.4451G>A (p.Gly1484Asp) c.4268G>A (p.Gly1423Asp) c.3989G>A (p.Gly1330Asp) c.3032G>A (p.Gly1011Asp) c.3023G>A (p.Gly1008Asp) | |
| 5 | g.37016043G>C | CA359482030 | NIPBL | c.4649G>C (p.Gly1550Ala) c.1-48535G>C (n.1-48535G>C) c.3905G>C (p.Gly1302Ala) c.4451G>C (p.Gly1484Ala) c.4268G>C (p.Gly1423Ala) c.3989G>C (p.Gly1330Ala) c.3032G>C (p.Gly1011Ala) c.3023G>C (p.Gly1008Ala) | |
| 5 | g.37016043G>T | CA359482032 | NIPBL | c.4649G>T (p.Gly1550Val) c.1-48535G>T (n.1-48535G>T) c.3905G>T (p.Gly1302Val) c.4451G>T (p.Gly1484Val) c.4268G>T (p.Gly1423Val) c.3989G>T (p.Gly1330Val) c.3032G>T (p.Gly1011Val) c.3023G>T (p.Gly1008Val) | |
| 5 | g.37016044T>A | CA3236611 | NIPBL | c.4650T>A (p.Gly1550=) c.1-48534T>A (n.1-48534T>A) c.3906T>A (p.Gly1302=) c.4452T>A (p.Gly1484=) c.4269T>A (p.Gly1423=) c.3990T>A (p.Gly1330=) c.3033T>A (p.Gly1011=) c.3024T>A (p.Gly1008=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016044T>C | CA3236610 | NIPBL | c.4650T>C (p.Gly1550=) c.1-48534T>C (n.1-48534T>C) c.3906T>C (p.Gly1302=) c.4452T>C (p.Gly1484=) c.4269T>C (p.Gly1423=) c.3990T>C (p.Gly1330=) c.3033T>C (p.Gly1011=) c.3024T>C (p.Gly1008=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016044T>G | CA443904431 | NIPBL | c.4650T>G (p.Gly1550=) c.1-48534T>G (n.1-48534T>G) c.3906T>G (p.Gly1302=) c.4452T>G (p.Gly1484=) c.4269T>G (p.Gly1423=) c.3990T>G (p.Gly1330=) c.3033T>G (p.Gly1011=) c.3024T>G (p.Gly1008=) | |
| 5 | g.37016044T= | CA1539615629 | NIPBL | c.4650T= (p.Gly1550=) c.1-48534T= (n.1-48534T=) c.3906T= (p.Gly1302=) c.4452T= (p.Gly1484=) c.4269T= (p.Gly1423=) c.3990T= (p.Gly1330=) c.3033T= (p.Gly1011=) c.3024T= (p.Gly1008=) | |
| 5 | g.37016045A>C | CA359482040 | NIPBL | c.4651A>C (p.Ser1551Arg) c.1-48533A>C (n.1-48533A>C) c.3907A>C (p.Ser1303Arg) c.4453A>C (p.Ser1485Arg) c.4270A>C (p.Ser1424Arg) c.3991A>C (p.Ser1331Arg) c.3034A>C (p.Ser1012Arg) c.3025A>C (p.Ser1009Arg) | |
| 5 | g.37016045A>G | CA359482053 | NIPBL | c.4651A>G (p.Ser1551Gly) c.1-48533A>G (n.1-48533A>G) c.3907A>G (p.Ser1303Gly) c.4453A>G (p.Ser1485Gly) c.4270A>G (p.Ser1424Gly) c.3991A>G (p.Ser1331Gly) c.3034A>G (p.Ser1012Gly) c.3025A>G (p.Ser1009Gly) | |
| 5 | g.37016045A>T | CA359482048 | NIPBL | c.4651A>T (p.Ser1551Cys) c.1-48533A>T (n.1-48533A>T) c.3907A>T (p.Ser1303Cys) c.4453A>T (p.Ser1485Cys) c.4270A>T (p.Ser1424Cys) c.3991A>T (p.Ser1331Cys) c.3034A>T (p.Ser1012Cys) c.3025A>T (p.Ser1009Cys) | |
| 5 | g.37016046G>A | CA3236613 | NIPBL | c.4652G>A (p.Ser1551Asn) c.1-48532G>A (n.1-48532G>A) c.3908G>A (p.Ser1303Asn) c.4454G>A (p.Ser1485Asn) c.4271G>A (p.Ser1424Asn) c.3992G>A (p.Ser1331Asn) c.3035G>A (p.Ser1012Asn) c.3026G>A (p.Ser1009Asn) | dbSNP ExAC gnomAD v4 |
| 5 | g.37016046G>C | CA3236612 | NIPBL | c.4652G>C (p.Ser1551Thr) c.1-48532G>C (n.1-48532G>C) c.3908G>C (p.Ser1303Thr) c.4454G>C (p.Ser1485Thr) c.4271G>C (p.Ser1424Thr) c.3992G>C (p.Ser1331Thr) c.3035G>C (p.Ser1012Thr) c.3026G>C (p.Ser1009Thr) | dbSNP ExAC gnomAD v2 |
| 5 | g.37016046G= | CA1539615636 | NIPBL | c.4652G= (p.Ser1551=) c.1-48532G= (n.1-48532G=) c.3908G= (p.Ser1303=) c.4454G= (p.Ser1485=) c.4271G= (p.Ser1424=) c.3992G= (p.Ser1331=) c.3035G= (p.Ser1012=) c.3026G= (p.Ser1009=) | |
| 5 | g.37016046G>T | CA359482067 | NIPBL | c.4652G>T (p.Ser1551Ile) c.1-48532G>T (n.1-48532G>T) c.3908G>T (p.Ser1303Ile) c.4454G>T (p.Ser1485Ile) c.4271G>T (p.Ser1424Ile) c.3992G>T (p.Ser1331Ile) c.3035G>T (p.Ser1012Ile) c.3026G>T (p.Ser1009Ile) | |
| 5 | g.37016047T>A | CA359482068 | NIPBL | c.4653T>A (p.Ser1551Arg) c.1-48531T>A (n.1-48531T>A) c.3909T>A (p.Ser1303Arg) c.4455T>A (p.Ser1485Arg) c.4272T>A (p.Ser1424Arg) c.3993T>A (p.Ser1331Arg) c.3036T>A (p.Ser1012Arg) c.3027T>A (p.Ser1009Arg) | |
| 5 | g.37016047T>C | CA443904432 | NIPBL | c.4653T>C (p.Ser1551=) c.1-48531T>C (n.1-48531T>C) c.3909T>C (p.Ser1303=) c.4455T>C (p.Ser1485=) c.4272T>C (p.Ser1424=) c.3993T>C (p.Ser1331=) c.3036T>C (p.Ser1012=) c.3027T>C (p.Ser1009=) | |
| 5 | g.37016047T>G | CA359482073 | NIPBL | c.4653T>G (p.Ser1551Arg) c.1-48531T>G (n.1-48531T>G) c.3909T>G (p.Ser1303Arg) c.4455T>G (p.Ser1485Arg) c.4272T>G (p.Ser1424Arg) c.3993T>G (p.Ser1331Arg) c.3036T>G (p.Ser1012Arg) c.3027T>G (p.Ser1009Arg) | |
| 5 | g.37016048A>C | CA359482074 | NIPBL | c.4654A>C (p.Lys1552Gln) c.1-48530A>C (n.1-48530A>C) c.3910A>C (p.Lys1304Gln) c.4456A>C (p.Lys1486Gln) c.4273A>C (p.Lys1425Gln) c.3994A>C (p.Lys1332Gln) c.3037A>C (p.Lys1013Gln) c.3028A>C (p.Lys1010Gln) | |
| 5 | g.37016048A>G | CA359482078 | NIPBL | c.4654A>G (p.Lys1552Glu) c.1-48530A>G (n.1-48530A>G) c.3910A>G (p.Lys1304Glu) c.4456A>G (p.Lys1486Glu) c.4273A>G (p.Lys1425Glu) c.3994A>G (p.Lys1332Glu) c.3037A>G (p.Lys1013Glu) c.3028A>G (p.Lys1010Glu) | |
| 5 | g.37016048A>T | CA359482080 | NIPBL | c.4654A>T (p.Lys1552Ter) c.1-48530A>T (n.1-48530A>T) c.3910A>T (p.Lys1304Ter) c.4456A>T (p.Lys1486Ter) c.4273A>T (p.Lys1425Ter) c.3994A>T (p.Lys1332Ter) c.3037A>T (p.Lys1013Ter) c.3028A>T (p.Lys1010Ter) | |
| 5 | g.37016049A>C | CA359482096 | NIPBL | c.4655A>C (p.Lys1552Thr) c.1-48529A>C (n.1-48529A>C) c.3911A>C (p.Lys1304Thr) c.4457A>C (p.Lys1486Thr) c.4274A>C (p.Lys1425Thr) c.3995A>C (p.Lys1332Thr) c.3038A>C (p.Lys1013Thr) c.3029A>C (p.Lys1010Thr) | |
| 5 | g.37016049A>G | CA359482091 | NIPBL | c.4655A>G (p.Lys1552Arg) c.1-48529A>G (n.1-48529A>G) c.3911A>G (p.Lys1304Arg) c.4457A>G (p.Lys1486Arg) c.4274A>G (p.Lys1425Arg) c.3995A>G (p.Lys1332Arg) c.3038A>G (p.Lys1013Arg) c.3029A>G (p.Lys1010Arg) | |
| 5 | g.37016049A>T | CA359482084 | NIPBL | c.4655A>T (p.Lys1552Met) c.1-48529A>T (n.1-48529A>T) c.3911A>T (p.Lys1304Met) c.4457A>T (p.Lys1486Met) c.4274A>T (p.Lys1425Met) c.3995A>T (p.Lys1332Met) c.3038A>T (p.Lys1013Met) c.3029A>T (p.Lys1010Met) | |
| 5 | g.37016050G>A | CA3236614 | NIPBL | c.4656G>A (p.Lys1552=) c.1-48528G>A (n.1-48528G>A) c.3912G>A (p.Lys1304=) c.4458G>A (p.Lys1486=) c.4275G>A (p.Lys1425=) c.3996G>A (p.Lys1332=) c.3039G>A (p.Lys1013=) c.3030G>A (p.Lys1010=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016050G>C | CA359482122 | NIPBL | c.4656G>C (p.Lys1552Asn) c.1-48528G>C (n.1-48528G>C) c.3912G>C (p.Lys1304Asn) c.4458G>C (p.Lys1486Asn) c.4275G>C (p.Lys1425Asn) c.3996G>C (p.Lys1332Asn) c.3039G>C (p.Lys1013Asn) c.3030G>C (p.Lys1010Asn) | |
| 5 | g.37016050G= | CA1539615641 | NIPBL | c.4656G= (p.Lys1552=) c.1-48528G= (n.1-48528G=) c.3912G= (p.Lys1304=) c.4458G= (p.Lys1486=) c.4275G= (p.Lys1425=) c.3996G= (p.Lys1332=) c.3039G= (p.Lys1013=) c.3030G= (p.Lys1010=) | |
| 5 | g.37016050G>T | CA359482123 | NIPBL | c.4656G>T (p.Lys1552Asn) c.1-48528G>T (n.1-48528G>T) c.3912G>T (p.Lys1304Asn) c.4458G>T (p.Lys1486Asn) c.4275G>T (p.Lys1425Asn) c.3996G>T (p.Lys1332Asn) c.3039G>T (p.Lys1013Asn) c.3030G>T (p.Lys1010Asn) | |
| 5 | g.37016051C>A | CA359482126 | NIPBL | c.4657C>A (p.Gln1553Lys) c.1-48527C>A (n.1-48527C>A) c.3913C>A (p.Gln1305Lys) c.4459C>A (p.Gln1487Lys) c.4276C>A (p.Gln1426Lys) c.3997C>A (p.Gln1333Lys) c.3040C>A (p.Gln1014Lys) c.3031C>A (p.Gln1011Lys) | |
| 5 | g.37016051C>G | CA359482128 | NIPBL | c.4657C>G (p.Gln1553Glu) c.1-48527C>G (n.1-48527C>G) c.3913C>G (p.Gln1305Glu) c.4459C>G (p.Gln1487Glu) c.4276C>G (p.Gln1426Glu) c.3997C>G (p.Gln1333Glu) c.3040C>G (p.Gln1014Glu) c.3031C>G (p.Gln1011Glu) | |
| 5 | g.37016051C>T | CA359482133 | NIPBL | c.4657C>T (p.Gln1553Ter) c.1-48527C>T (n.1-48527C>T) c.3913C>T (p.Gln1305Ter) c.4459C>T (p.Gln1487Ter) c.4276C>T (p.Gln1426Ter) c.3997C>T (p.Gln1333Ter) c.3040C>T (p.Gln1014Ter) c.3031C>T (p.Gln1011Ter) | |
| 5 | g.37016052A>C | CA359482150 | NIPBL | c.4658A>C (p.Gln1553Pro) c.1-48526A>C (n.1-48526A>C) c.3914A>C (p.Gln1305Pro) c.4460A>C (p.Gln1487Pro) c.4277A>C (p.Gln1426Pro) c.3998A>C (p.Gln1333Pro) c.3041A>C (p.Gln1014Pro) c.3032A>C (p.Gln1011Pro) | |
| 5 | g.37016052A>G | CA359482139 | NIPBL | c.4658A>G (p.Gln1553Arg) c.1-48526A>G (n.1-48526A>G) c.3914A>G (p.Gln1305Arg) c.4460A>G (p.Gln1487Arg) c.4277A>G (p.Gln1426Arg) c.3998A>G (p.Gln1333Arg) c.3041A>G (p.Gln1014Arg) c.3032A>G (p.Gln1011Arg) | |
| 5 | g.37016052A>T | CA359482145 | NIPBL | c.4658A>T (p.Gln1553Leu) c.1-48526A>T (n.1-48526A>T) c.3914A>T (p.Gln1305Leu) c.4460A>T (p.Gln1487Leu) c.4277A>T (p.Gln1426Leu) c.3998A>T (p.Gln1333Leu) c.3041A>T (p.Gln1014Leu) c.3032A>T (p.Gln1011Leu) | |
| 5 | g.37016053A>C | CA359482153 | NIPBL | c.4659A>C (p.Gln1553His) c.1-48525A>C (n.1-48525A>C) c.3915A>C (p.Gln1305His) c.4461A>C (p.Gln1487His) c.4278A>C (p.Gln1426His) c.3999A>C (p.Gln1333His) c.3042A>C (p.Gln1014His) c.3033A>C (p.Gln1011His) | |
| 5 | g.37016053A>G | CA443904433 | NIPBL | c.4659A>G (p.Gln1553=) c.1-48525A>G (n.1-48525A>G) c.3915A>G (p.Gln1305=) c.4461A>G (p.Gln1487=) c.4278A>G (p.Gln1426=) c.3999A>G (p.Gln1333=) c.3042A>G (p.Gln1014=) c.3033A>G (p.Gln1011=) | |
| 5 | g.37016053A>T | CA359482163 | NIPBL | c.4659A>T (p.Gln1553His) c.1-48525A>T (n.1-48525A>T) c.3915A>T (p.Gln1305His) c.4461A>T (p.Gln1487His) c.4278A>T (p.Gln1426His) c.3999A>T (p.Gln1333His) c.3042A>T (p.Gln1014His) c.3033A>T (p.Gln1011His) | |
| 5 | g.37016054G>A | CA359482167 | NIPBL | c.4660G>A (p.Gly1554Ser) c.1-48524G>A (n.1-48524G>A) c.3916G>A (p.Gly1306Ser) c.4462G>A (p.Gly1488Ser) c.4279G>A (p.Gly1427Ser) c.4000G>A (p.Gly1334Ser) c.3043G>A (p.Gly1015Ser) c.3034G>A (p.Gly1012Ser) | COSMIC COSMIC |
| 5 | g.37016054G>C | CA359482171 | NIPBL | c.4660G>C (p.Gly1554Arg) c.1-48524G>C (n.1-48524G>C) c.3916G>C (p.Gly1306Arg) c.4462G>C (p.Gly1488Arg) c.4279G>C (p.Gly1427Arg) c.4000G>C (p.Gly1334Arg) c.3043G>C (p.Gly1015Arg) c.3034G>C (p.Gly1012Arg) | |
| 5 | g.37016054G>T | CA359482177 | NIPBL | c.4660G>T (p.Gly1554Cys) c.1-48524G>T (n.1-48524G>T) c.3916G>T (p.Gly1306Cys) c.4462G>T (p.Gly1488Cys) c.4279G>T (p.Gly1427Cys) c.4000G>T (p.Gly1334Cys) c.3043G>T (p.Gly1015Cys) c.3034G>T (p.Gly1012Cys) | |
| 5 | g.37016055G>A | CA359482187 | NIPBL | c.4661G>A (p.Gly1554Asp) c.1-48523G>A (n.1-48523G>A) c.3917G>A (p.Gly1306Asp) c.4463G>A (p.Gly1488Asp) c.4280G>A (p.Gly1427Asp) c.4001G>A (p.Gly1334Asp) c.3044G>A (p.Gly1015Asp) c.3035G>A (p.Gly1012Asp) | |
| 5 | g.37016055G>C | CA359482188 | NIPBL | c.4661G>C (p.Gly1554Ala) c.1-48523G>C (n.1-48523G>C) c.3917G>C (p.Gly1306Ala) c.4463G>C (p.Gly1488Ala) c.4280G>C (p.Gly1427Ala) c.4001G>C (p.Gly1334Ala) c.3044G>C (p.Gly1015Ala) c.3035G>C (p.Gly1012Ala) | |
| 5 | g.37016055G>T | CA359482189 | NIPBL | c.4661G>T (p.Gly1554Val) c.1-48523G>T (n.1-48523G>T) c.3917G>T (p.Gly1306Val) c.4463G>T (p.Gly1488Val) c.4280G>T (p.Gly1427Val) c.4001G>T (p.Gly1334Val) c.3044G>T (p.Gly1015Val) c.3035G>T (p.Gly1012Val) | |
| 5 | g.37016056T>A | CA443904434 | NIPBL | c.4662T>A (p.Gly1554=) c.1-48522T>A (n.1-48522T>A) c.3918T>A (p.Gly1306=) c.4464T>A (p.Gly1488=) c.4281T>A (p.Gly1427=) c.4002T>A (p.Gly1334=) c.3045T>A (p.Gly1015=) c.3036T>A (p.Gly1012=) | |
| 5 | g.37016056T>C | CA443904435 | NIPBL | c.4662T>C (p.Gly1554=) c.1-48522T>C (n.1-48522T>C) c.3918T>C (p.Gly1306=) c.4464T>C (p.Gly1488=) c.4281T>C (p.Gly1427=) c.4002T>C (p.Gly1334=) c.3045T>C (p.Gly1015=) c.3036T>C (p.Gly1012=) | |
| 5 | g.37016056T>G | CA443904436 | NIPBL | c.4662T>G (p.Gly1554=) c.1-48522T>G (n.1-48522T>G) c.3918T>G (p.Gly1306=) c.4464T>G (p.Gly1488=) c.4281T>G (p.Gly1427=) c.4002T>G (p.Gly1334=) c.3045T>G (p.Gly1015=) c.3036T>G (p.Gly1012=) | |
| 5 | g.37016056_37016057delinsTG | CA1539615644 | NIPBL | c.4662_4663delinsTG (p.Gly1554=) c.1-48522_1-48521delinsTG (n.1-48522_1-48521delinsTG) c.3918_3919delinsTG (p.Gly1306=) c.4464_4465delinsTG (p.Gly1488=) c.4281_4282delinsTG (p.Gly1427=) c.4002_4003delinsTG (p.Gly1334=) c.3045_3046delinsTG (p.Gly1015=) c.3036_3037delinsTG (p.Gly1012=) | |
| 5 | g.37016057del | CA272122 | NIPBL | c.4663del (p.Glu1555LysfsTer?) c.1-48521del (n.1-48521del) c.3919del (p.Glu1307LysfsTer?) c.4465del (p.Glu1489LysfsTer?) c.4282del (p.Glu1428LysfsTer?) c.4003del (p.Glu1335LysfsTer?) c.3046del (p.Glu1016LysfsTer?) c.3037del (p.Glu1013LysfsTer?) | ClinVar dbSNP |
| 5 | g.37016057G>A | CA359482190 | NIPBL | c.4663G>A (p.Glu1555Lys) c.1-48521G>A (n.1-48521G>A) c.3919G>A (p.Glu1307Lys) c.4465G>A (p.Glu1489Lys) c.4282G>A (p.Glu1428Lys) c.4003G>A (p.Glu1335Lys) c.3046G>A (p.Glu1016Lys) c.3037G>A (p.Glu1013Lys) | |
| 5 | g.37016057G>C | CA359482203 | NIPBL | c.4663G>C (p.Glu1555Gln) c.1-48521G>C (n.1-48521G>C) c.3919G>C (p.Glu1307Gln) c.4465G>C (p.Glu1489Gln) c.4282G>C (p.Glu1428Gln) c.4003G>C (p.Glu1335Gln) c.3046G>C (p.Glu1016Gln) c.3037G>C (p.Glu1013Gln) | |
| 5 | g.37016057G>T | CA359482205 | NIPBL | c.4663G>T (p.Glu1555Ter) c.1-48521G>T (n.1-48521G>T) c.3919G>T (p.Glu1307Ter) c.4465G>T (p.Glu1489Ter) c.4282G>T (p.Glu1428Ter) c.4003G>T (p.Glu1335Ter) c.3046G>T (p.Glu1016Ter) c.3037G>T (p.Glu1013Ter) | |
| 5 | g.37016058A>C | CA359482211 | NIPBL | c.4664A>C (p.Glu1555Ala) c.1-48520A>C (n.1-48520A>C) c.3920A>C (p.Glu1307Ala) c.4466A>C (p.Glu1489Ala) c.4283A>C (p.Glu1428Ala) c.4004A>C (p.Glu1335Ala) c.3047A>C (p.Glu1016Ala) c.3038A>C (p.Glu1013Ala) | |
| 5 | g.37016058A>G | CA359482218 | NIPBL | c.4664A>G (p.Glu1555Gly) c.1-48520A>G (n.1-48520A>G) c.3920A>G (p.Glu1307Gly) c.4466A>G (p.Glu1489Gly) c.4283A>G (p.Glu1428Gly) c.4004A>G (p.Glu1335Gly) c.3047A>G (p.Glu1016Gly) c.3038A>G (p.Glu1013Gly) | |
| 5 | g.37016058A>T | CA359482213 | NIPBL | c.4664A>T (p.Glu1555Val) c.1-48520A>T (n.1-48520A>T) c.3920A>T (p.Glu1307Val) c.4466A>T (p.Glu1489Val) c.4283A>T (p.Glu1428Val) c.4004A>T (p.Glu1335Val) c.3047A>T (p.Glu1016Val) c.3038A>T (p.Glu1013Val) | |
| 5 | g.37016059A>C | CA359482221 | NIPBL | c.4665A>C (p.Glu1555Asp) c.1-48519A>C (n.1-48519A>C) c.3921A>C (p.Glu1307Asp) c.4467A>C (p.Glu1489Asp) c.4284A>C (p.Glu1428Asp) c.4005A>C (p.Glu1335Asp) c.3048A>C (p.Glu1016Asp) c.3039A>C (p.Glu1013Asp) | |
| 5 | g.37016059A>G | CA443904437 | NIPBL | c.4665A>G (p.Glu1555=) c.1-48519A>G (n.1-48519A>G) c.3921A>G (p.Glu1307=) c.4467A>G (p.Glu1489=) c.4284A>G (p.Glu1428=) c.4005A>G (p.Glu1335=) c.3048A>G (p.Glu1016=) c.3039A>G (p.Glu1013=) | |
| 5 | g.37016059A>T | CA359482224 | NIPBL | c.4665A>T (p.Glu1555Asp) c.1-48519A>T (n.1-48519A>T) c.3921A>T (p.Glu1307Asp) c.4467A>T (p.Glu1489Asp) c.4284A>T (p.Glu1428Asp) c.4005A>T (p.Glu1335Asp) c.3048A>T (p.Glu1016Asp) c.3039A>T (p.Glu1013Asp) | |
| 5 | g.37016060G>A | CA359482226 | NIPBL | c.4666G>A (p.Glu1556Lys) c.1-48518G>A (n.1-48518G>A) c.3922G>A (p.Glu1308Lys) c.4468G>A (p.Glu1490Lys) c.4285G>A (p.Glu1429Lys) c.4006G>A (p.Glu1336Lys) c.3049G>A (p.Glu1017Lys) c.3040G>A (p.Glu1014Lys) | |
| 5 | g.37016060G>C | CA359482229 | NIPBL | c.4666G>C (p.Glu1556Gln) c.1-48518G>C (n.1-48518G>C) c.3922G>C (p.Glu1308Gln) c.4468G>C (p.Glu1490Gln) c.4285G>C (p.Glu1429Gln) c.4006G>C (p.Glu1336Gln) c.3049G>C (p.Glu1017Gln) c.3040G>C (p.Glu1014Gln) | |
| 5 | g.37016060G>T | CA359482230 | NIPBL | c.4666G>T (p.Glu1556Ter) c.1-48518G>T (n.1-48518G>T) c.3922G>T (p.Glu1308Ter) c.4468G>T (p.Glu1490Ter) c.4285G>T (p.Glu1429Ter) c.4006G>T (p.Glu1336Ter) c.3049G>T (p.Glu1017Ter) c.3040G>T (p.Glu1014Ter) | |
| 5 | g.37016061A>C | CA359482231 | NIPBL | c.4667A>C (p.Glu1556Ala) c.1-48517A>C (n.1-48517A>C) c.3923A>C (p.Glu1308Ala) c.4469A>C (p.Glu1490Ala) c.4286A>C (p.Glu1429Ala) c.4007A>C (p.Glu1336Ala) c.3050A>C (p.Glu1017Ala) c.3041A>C (p.Glu1014Ala) | |
| 5 | g.37016061A>G | CA359482232 | NIPBL | c.4667A>G (p.Glu1556Gly) c.1-48517A>G (n.1-48517A>G) c.3923A>G (p.Glu1308Gly) c.4469A>G (p.Glu1490Gly) c.4286A>G (p.Glu1429Gly) c.4007A>G (p.Glu1336Gly) c.3050A>G (p.Glu1017Gly) c.3041A>G (p.Glu1014Gly) | |
| 5 | g.37016061A>T | CA359482233 | NIPBL | c.4667A>T (p.Glu1556Val) c.1-48517A>T (n.1-48517A>T) c.3923A>T (p.Glu1308Val) c.4469A>T (p.Glu1490Val) c.4286A>T (p.Glu1429Val) c.4007A>T (p.Glu1336Val) c.3050A>T (p.Glu1017Val) c.3041A>T (p.Glu1014Val) | |
| 5 | g.37016062A>C | CA359482234 | NIPBL | c.4668A>C (p.Glu1556Asp) c.1-48516A>C (n.1-48516A>C) c.3924A>C (p.Glu1308Asp) c.4470A>C (p.Glu1490Asp) c.4287A>C (p.Glu1429Asp) c.4008A>C (p.Glu1336Asp) c.3051A>C (p.Glu1017Asp) c.3042A>C (p.Glu1014Asp) | |
| 5 | g.37016062A>G | CA443904438 | NIPBL | c.4668A>G (p.Glu1556=) c.1-48516A>G (n.1-48516A>G) c.3924A>G (p.Glu1308=) c.4470A>G (p.Glu1490=) c.4287A>G (p.Glu1429=) c.4008A>G (p.Glu1336=) c.3051A>G (p.Glu1017=) c.3042A>G (p.Glu1014=) | |
| 5 | g.37016062A>T | CA359482236 | NIPBL | c.4668A>T (p.Glu1556Asp) c.1-48516A>T (n.1-48516A>T) c.3924A>T (p.Glu1308Asp) c.4470A>T (p.Glu1490Asp) c.4287A>T (p.Glu1429Asp) c.4008A>T (p.Glu1336Asp) c.3051A>T (p.Glu1017Asp) c.3042A>T (p.Glu1014Asp) | |
| 5 | g.37016063G>A | CA359482239 | NIPBL | c.4669G>A (p.Asp1557Asn) c.1-48515G>A (n.1-48515G>A) c.3925G>A (p.Asp1309Asn) c.4471G>A (p.Asp1491Asn) c.4288G>A (p.Asp1430Asn) c.4009G>A (p.Asp1337Asn) c.3052G>A (p.Asp1018Asn) c.3043G>A (p.Asp1015Asn) | |
| 5 | g.37016063G>C | CA359482249 | NIPBL | c.4669G>C (p.Asp1557His) c.1-48515G>C (n.1-48515G>C) c.3925G>C (p.Asp1309His) c.4471G>C (p.Asp1491His) c.4288G>C (p.Asp1430His) c.4009G>C (p.Asp1337His) c.3052G>C (p.Asp1018His) c.3043G>C (p.Asp1015His) | |
| 5 | g.37016063G>T | CA359482250 | NIPBL | c.4669G>T (p.Asp1557Tyr) c.1-48515G>T (n.1-48515G>T) c.3925G>T (p.Asp1309Tyr) c.4471G>T (p.Asp1491Tyr) c.4288G>T (p.Asp1430Tyr) c.4009G>T (p.Asp1337Tyr) c.3052G>T (p.Asp1018Tyr) c.3043G>T (p.Asp1015Tyr) | |
| 5 | g.37016064A>C | CA359482254 | NIPBL | c.4670A>C (p.Asp1557Ala) c.1-48514A>C (n.1-48514A>C) c.3926A>C (p.Asp1309Ala) c.4472A>C (p.Asp1491Ala) c.4289A>C (p.Asp1430Ala) c.4010A>C (p.Asp1337Ala) c.3053A>C (p.Asp1018Ala) c.3044A>C (p.Asp1015Ala) | |
| 5 | g.37016064A>G | CA359482256 | NIPBL | c.4670A>G (p.Asp1557Gly) c.1-48514A>G (n.1-48514A>G) c.3926A>G (p.Asp1309Gly) c.4472A>G (p.Asp1491Gly) c.4289A>G (p.Asp1430Gly) c.4010A>G (p.Asp1337Gly) c.3053A>G (p.Asp1018Gly) c.3044A>G (p.Asp1015Gly) | |
| 5 | g.37016064A>T | CA359482255 | NIPBL | c.4670A>T (p.Asp1557Val) c.1-48514A>T (n.1-48514A>T) c.3926A>T (p.Asp1309Val) c.4472A>T (p.Asp1491Val) c.4289A>T (p.Asp1430Val) c.4010A>T (p.Asp1337Val) c.3053A>T (p.Asp1018Val) c.3044A>T (p.Asp1015Val) | |
| 5 | g.37016065T>A | CA359482257 | NIPBL | c.4671T>A (p.Asp1557Glu) c.1-48513T>A (n.1-48513T>A) c.3927T>A (p.Asp1309Glu) c.4473T>A (p.Asp1491Glu) c.4290T>A (p.Asp1430Glu) c.4011T>A (p.Asp1337Glu) c.3054T>A (p.Asp1018Glu) c.3045T>A (p.Asp1015Glu) | |
| 5 | g.37016065T>C | CA443904439 | NIPBL | c.4671T>C (p.Asp1557=) c.1-48513T>C (n.1-48513T>C) c.3927T>C (p.Asp1309=) c.4473T>C (p.Asp1491=) c.4290T>C (p.Asp1430=) c.4011T>C (p.Asp1337=) c.3054T>C (p.Asp1018=) c.3045T>C (p.Asp1015=) | |
| 5 | g.37016065T>G | CA359482258 | NIPBL | c.4671T>G (p.Asp1557Glu) c.1-48513T>G (n.1-48513T>G) c.3927T>G (p.Asp1309Glu) c.4473T>G (p.Asp1491Glu) c.4290T>G (p.Asp1430Glu) c.4011T>G (p.Asp1337Glu) c.3054T>G (p.Asp1018Glu) c.3045T>G (p.Asp1015Glu) | |
| 5 | g.37016066T>A | CA359482261 | NIPBL | c.4672T>A (p.Tyr1558Asn) c.1-48512T>A (n.1-48512T>A) c.3928T>A (p.Tyr1310Asn) c.4474T>A (p.Tyr1492Asn) c.4291T>A (p.Tyr1431Asn) c.4012T>A (p.Tyr1338Asn) c.3055T>A (p.Tyr1019Asn) c.3046T>A (p.Tyr1016Asn) | |
| 5 | g.37016066T>C | CA359482270 | NIPBL | c.4672T>C (p.Tyr1558His) c.1-48512T>C (n.1-48512T>C) c.3928T>C (p.Tyr1310His) c.4474T>C (p.Tyr1492His) c.4291T>C (p.Tyr1431His) c.4012T>C (p.Tyr1338His) c.3055T>C (p.Tyr1019His) c.3046T>C (p.Tyr1016His) | |
| 5 | g.37016066T>G | CA359482271 | NIPBL | c.4672T>G (p.Tyr1558Asp) c.1-48512T>G (n.1-48512T>G) c.3928T>G (p.Tyr1310Asp) c.4474T>G (p.Tyr1492Asp) c.4291T>G (p.Tyr1431Asp) c.4012T>G (p.Tyr1338Asp) c.3055T>G (p.Tyr1019Asp) c.3046T>G (p.Tyr1016Asp) | |
| 5 | g.37016069_37016144dup | CA2499217843 | NIPBL | c.4675_4750dup (p.Leu1584GlnfsTer5) c.1-48509_1-48434dup (n.1-48509_1-48434dup) c.3931_4006dup (p.Leu1336GlnfsTer5) c.4477_4552dup (p.Leu1518GlnfsTer5) c.4294_4369dup (p.Leu1457GlnfsTer5) c.4015_4090dup (p.Leu1364GlnfsTer5) c.3058_3133dup (p.Leu1045GlnfsTer5) c.3049_3124dup (p.Leu1042GlnfsTer5) | ClinVar dbSNP |
| 5 | g.37016067A= | CA1539615654 | NIPBL | c.4673A= (p.Tyr1558=) c.1-48511A= (n.1-48511A=) c.3929A= (p.Tyr1310=) c.4475A= (p.Tyr1492=) c.4292A= (p.Tyr1431=) c.4013A= (p.Tyr1338=) c.3056A= (p.Tyr1019=) c.3047A= (p.Tyr1016=) | |
| 5 | g.37016067A>C | CA359482277 | NIPBL | c.4673A>C (p.Tyr1558Ser) c.1-48511A>C (n.1-48511A>C) c.3929A>C (p.Tyr1310Ser) c.4475A>C (p.Tyr1492Ser) c.4292A>C (p.Tyr1431Ser) c.4013A>C (p.Tyr1338Ser) c.3056A>C (p.Tyr1019Ser) c.3047A>C (p.Tyr1016Ser) | ClinVar dbSNP |
| 5 | g.37016067A>G | CA359482278 | NIPBL | c.4673A>G (p.Tyr1558Cys) c.1-48511A>G (n.1-48511A>G) c.3929A>G (p.Tyr1310Cys) c.4475A>G (p.Tyr1492Cys) c.4292A>G (p.Tyr1431Cys) c.4013A>G (p.Tyr1338Cys) c.3056A>G (p.Tyr1019Cys) c.3047A>G (p.Tyr1016Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37016067A>T | CA359482279 | NIPBL | c.4673A>T (p.Tyr1558Phe) c.1-48511A>T (n.1-48511A>T) c.3929A>T (p.Tyr1310Phe) c.4475A>T (p.Tyr1492Phe) c.4292A>T (p.Tyr1431Phe) c.4013A>T (p.Tyr1338Phe) c.3056A>T (p.Tyr1019Phe) c.3047A>T (p.Tyr1016Phe) | |
| 5 | g.37016068C>A | CA359482280 | NIPBL | c.4674C>A (p.Tyr1558Ter) c.1-48510C>A (n.1-48510C>A) c.3930C>A (p.Tyr1310Ter) c.4476C>A (p.Tyr1492Ter) c.4293C>A (p.Tyr1431Ter) c.4014C>A (p.Tyr1338Ter) c.3057C>A (p.Tyr1019Ter) c.3048C>A (p.Tyr1016Ter) | |
| 5 | g.37016068C= | CA1539615657 | NIPBL | c.4674C= (p.Tyr1558=) c.1-48510C= (n.1-48510C=) c.3930C= (p.Tyr1310=) c.4476C= (p.Tyr1492=) c.4293C= (p.Tyr1431=) c.4014C= (p.Tyr1338=) c.3057C= (p.Tyr1019=) c.3048C= (p.Tyr1016=) | |
| 5 | g.37016068C>G | CA359482282 | NIPBL | c.4674C>G (p.Tyr1558Ter) c.1-48510C>G (n.1-48510C>G) c.3930C>G (p.Tyr1310Ter) c.4476C>G (p.Tyr1492Ter) c.4293C>G (p.Tyr1431Ter) c.4014C>G (p.Tyr1338Ter) c.3057C>G (p.Tyr1019Ter) c.3048C>G (p.Tyr1016Ter) | |
| 5 | g.37016068C>T | CA172701 | NIPBL | c.4674C>T (p.Tyr1558=) c.1-48510C>T (n.1-48510C>T) c.3930C>T (p.Tyr1310=) c.4476C>T (p.Tyr1492=) c.4293C>T (p.Tyr1431=) c.4014C>T (p.Tyr1338=) c.3057C>T (p.Tyr1019=) c.3048C>T (p.Tyr1016=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016069A>C | CA443904440 | NIPBL | c.4675A>C (p.Arg1559=) c.1-48509A>C (n.1-48509A>C) c.3931A>C (p.Arg1311=) c.4477A>C (p.Arg1493=) c.4294A>C (p.Arg1432=) c.4015A>C (p.Arg1339=) c.3058A>C (p.Arg1020=) c.3049A>C (p.Arg1017=) | |
| 5 | g.37016069A>G | CA359482284 | NIPBL | c.4675A>G (p.Arg1559Gly) c.1-48509A>G (n.1-48509A>G) c.3931A>G (p.Arg1311Gly) c.4477A>G (p.Arg1493Gly) c.4294A>G (p.Arg1432Gly) c.4015A>G (p.Arg1339Gly) c.3058A>G (p.Arg1020Gly) c.3049A>G (p.Arg1017Gly) | |
| 5 | g.37016069A>T | CA359482285 | NIPBL | c.4675A>T (p.Arg1559Ter) c.1-48509A>T (n.1-48509A>T) c.3931A>T (p.Arg1311Ter) c.4477A>T (p.Arg1493Ter) c.4294A>T (p.Arg1432Ter) c.4015A>T (p.Arg1339Ter) c.3058A>T (p.Arg1020Ter) c.3049A>T (p.Arg1017Ter) | |
| 5 | g.37016070G>A | CA359482287 | NIPBL | c.4676G>A (p.Arg1559Lys) c.1-48508G>A (n.1-48508G>A) c.3932G>A (p.Arg1311Lys) c.4478G>A (p.Arg1493Lys) c.4295G>A (p.Arg1432Lys) c.4016G>A (p.Arg1339Lys) c.3059G>A (p.Arg1020Lys) c.3050G>A (p.Arg1017Lys) | gnomAD v4 |
| 5 | g.37016070G>C | CA359482294 | NIPBL | c.4676G>C (p.Arg1559Thr) c.1-48508G>C (n.1-48508G>C) c.3932G>C (p.Arg1311Thr) c.4478G>C (p.Arg1493Thr) c.4295G>C (p.Arg1432Thr) c.4016G>C (p.Arg1339Thr) c.3059G>C (p.Arg1020Thr) c.3050G>C (p.Arg1017Thr) | |
| 5 | g.37016070G>T | CA359482290 | NIPBL | c.4676G>T (p.Arg1559Ile) c.1-48508G>T (n.1-48508G>T) c.3932G>T (p.Arg1311Ile) c.4478G>T (p.Arg1493Ile) c.4295G>T (p.Arg1432Ile) c.4016G>T (p.Arg1339Ile) c.3059G>T (p.Arg1020Ile) c.3050G>T (p.Arg1017Ile) | |
| 5 | g.37016071A>C | CA359482296 | NIPBL | c.4677A>C (p.Arg1559Ser) c.1-48507A>C (n.1-48507A>C) c.3933A>C (p.Arg1311Ser) c.4479A>C (p.Arg1493Ser) c.4296A>C (p.Arg1432Ser) c.4017A>C (p.Arg1339Ser) c.3060A>C (p.Arg1020Ser) c.3051A>C (p.Arg1017Ser) | |
| 5 | g.37016071A>G | CA443904441 | NIPBL | c.4677A>G (p.Arg1559=) c.1-48507A>G (n.1-48507A>G) c.3933A>G (p.Arg1311=) c.4479A>G (p.Arg1493=) c.4296A>G (p.Arg1432=) c.4017A>G (p.Arg1339=) c.3060A>G (p.Arg1020=) c.3051A>G (p.Arg1017=) | |
| 5 | g.37016071A>T | CA359482305 | NIPBL | c.4677A>T (p.Arg1559Ser) c.1-48507A>T (n.1-48507A>T) c.3933A>T (p.Arg1311Ser) c.4479A>T (p.Arg1493Ser) c.4296A>T (p.Arg1432Ser) c.4017A>T (p.Arg1339Ser) c.3060A>T (p.Arg1020Ser) c.3051A>T (p.Arg1017Ser) | COSMIC COSMIC |
| 5 | g.37016072C>A | CA359482307 | NIPBL | c.4678C>A (p.Pro1560Thr) c.1-48506C>A (n.1-48506C>A) c.3934C>A (p.Pro1312Thr) c.4480C>A (p.Pro1494Thr) c.4297C>A (p.Pro1433Thr) c.4018C>A (p.Pro1340Thr) c.3061C>A (p.Pro1021Thr) c.3052C>A (p.Pro1018Thr) | |
| 5 | g.37016072C= | CA1539615661 | NIPBL | c.4678C= (p.Pro1560=) c.1-48506C= (n.1-48506C=) c.3934C= (p.Pro1312=) c.4480C= (p.Pro1494=) c.4297C= (p.Pro1433=) c.4018C= (p.Pro1340=) c.3061C= (p.Pro1021=) c.3052C= (p.Pro1018=) | |
| 5 | g.37016072C>G | CA359482311 | NIPBL | c.4678C>G (p.Pro1560Ala) c.1-48506C>G (n.1-48506C>G) c.3934C>G (p.Pro1312Ala) c.4480C>G (p.Pro1494Ala) c.4297C>G (p.Pro1433Ala) c.4018C>G (p.Pro1340Ala) c.3061C>G (p.Pro1021Ala) c.3052C>G (p.Pro1018Ala) | |
| 5 | g.37016072C>T | CA117025908 | NIPBL | c.4678C>T (p.Pro1560Ser) c.1-48506C>T (n.1-48506C>T) c.3934C>T (p.Pro1312Ser) c.4480C>T (p.Pro1494Ser) c.4297C>T (p.Pro1433Ser) c.4018C>T (p.Pro1340Ser) c.3061C>T (p.Pro1021Ser) c.3052C>T (p.Pro1018Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37016073C>A | CA359482317 | NIPBL | c.4679C>A (p.Pro1560Gln) c.1-48505C>A (n.1-48505C>A) c.3935C>A (p.Pro1312Gln) c.4481C>A (p.Pro1494Gln) c.4298C>A (p.Pro1433Gln) c.4019C>A (p.Pro1340Gln) c.3062C>A (p.Pro1021Gln) c.3053C>A (p.Pro1018Gln) | |
| 5 | g.37016073C>G | CA359482320 | NIPBL | c.4679C>G (p.Pro1560Arg) c.1-48505C>G (n.1-48505C>G) c.3935C>G (p.Pro1312Arg) c.4481C>G (p.Pro1494Arg) c.4298C>G (p.Pro1433Arg) c.4019C>G (p.Pro1340Arg) c.3062C>G (p.Pro1021Arg) c.3053C>G (p.Pro1018Arg) | |
| 5 | g.37016073C>T | CA359482322 | NIPBL | c.4679C>T (p.Pro1560Leu) c.1-48505C>T (n.1-48505C>T) c.3935C>T (p.Pro1312Leu) c.4481C>T (p.Pro1494Leu) c.4298C>T (p.Pro1433Leu) c.4019C>T (p.Pro1340Leu) c.3062C>T (p.Pro1021Leu) c.3053C>T (p.Pro1018Leu) | |
| 5 | g.37016074A= | CA1539615665 | NIPBL | c.4680A= (p.Pro1560=) c.1-48504A= (n.1-48504A=) c.3936A= (p.Pro1312=) c.4482A= (p.Pro1494=) c.4299A= (p.Pro1433=) c.4020A= (p.Pro1340=) c.3063A= (p.Pro1021=) c.3054A= (p.Pro1018=) | |
| 5 | g.37016074A>C | CA443904442 | NIPBL | c.4680A>C (p.Pro1560=) c.1-48504A>C (n.1-48504A>C) c.3936A>C (p.Pro1312=) c.4482A>C (p.Pro1494=) c.4299A>C (p.Pro1433=) c.4020A>C (p.Pro1340=) c.3063A>C (p.Pro1021=) c.3054A>C (p.Pro1018=) | |
| 5 | g.37016074A>G | CA117025911 | NIPBL | c.4680A>G (p.Pro1560=) c.1-48504A>G (n.1-48504A>G) c.3936A>G (p.Pro1312=) c.4482A>G (p.Pro1494=) c.4299A>G (p.Pro1433=) c.4020A>G (p.Pro1340=) c.3063A>G (p.Pro1021=) c.3054A>G (p.Pro1018=) | dbSNP |
| 5 | g.37016074A>T | CA443904443 | NIPBL | c.4680A>T (p.Pro1560=) c.1-48504A>T (n.1-48504A>T) c.3936A>T (p.Pro1312=) c.4482A>T (p.Pro1494=) c.4299A>T (p.Pro1433=) c.4020A>T (p.Pro1340=) c.3063A>T (p.Pro1021=) c.3054A>T (p.Pro1018=) | |
| 5 | g.37016075C>A | CA359482325 | NIPBL | c.4681C>A (p.Leu1561Met) c.1-48503C>A (n.1-48503C>A) c.3937C>A (p.Leu1313Met) c.4483C>A (p.Leu1495Met) c.4300C>A (p.Leu1434Met) c.4021C>A (p.Leu1341Met) c.3064C>A (p.Leu1022Met) c.3055C>A (p.Leu1019Met) | |
| 5 | g.37016075C>G | CA359482331 | NIPBL | c.4681C>G (p.Leu1561Val) c.1-48503C>G (n.1-48503C>G) c.3937C>G (p.Leu1313Val) c.4483C>G (p.Leu1495Val) c.4300C>G (p.Leu1434Val) c.4021C>G (p.Leu1341Val) c.3064C>G (p.Leu1022Val) c.3055C>G (p.Leu1019Val) | |
| 5 | g.37016075C>T | CA443904444 | NIPBL | c.4681C>T (p.Leu1561=) c.1-48503C>T (n.1-48503C>T) c.3937C>T (p.Leu1313=) c.4483C>T (p.Leu1495=) c.4300C>T (p.Leu1434=) c.4021C>T (p.Leu1341=) c.3064C>T (p.Leu1022=) c.3055C>T (p.Leu1019=) | |
| 5 | g.37016075_37016079delinsCTGTT | CA1539615669 | NIPBL | c.4681_4685delinsCTGTT (p.Leu1561=) c.1-48503_1-48499delinsCTGTT (n.1-48503_1-48499delinsCTGTT) c.3937_3941delinsCTGTT (p.Leu1313=) c.4483_4487delinsCTGTT (p.Leu1495=) c.4300_4304delinsCTGTT (p.Leu1434=) c.4021_4025delinsCTGTT (p.Leu1341=) c.3064_3068delinsCTGTT (p.Leu1022=) c.3055_3059delinsCTGTT (p.Leu1019=) | |
| 5 | g.37016076T>A | CA359482335 | NIPBL | c.4682T>A (p.Leu1561Gln) c.1-48502T>A (n.1-48502T>A) c.3938T>A (p.Leu1313Gln) c.4484T>A (p.Leu1495Gln) c.4301T>A (p.Leu1434Gln) c.4022T>A (p.Leu1341Gln) c.3065T>A (p.Leu1022Gln) c.3056T>A (p.Leu1019Gln) | |
| 5 | g.37016076T>C | CA359482346 | NIPBL | c.4682T>C (p.Leu1561Pro) c.1-48502T>C (n.1-48502T>C) c.3938T>C (p.Leu1313Pro) c.4484T>C (p.Leu1495Pro) c.4301T>C (p.Leu1434Pro) c.4022T>C (p.Leu1341Pro) c.3065T>C (p.Leu1022Pro) c.3056T>C (p.Leu1019Pro) | |
| 5 | g.37016076T>G | CA359482347 | NIPBL | c.4682T>G (p.Leu1561Arg) c.1-48502T>G (n.1-48502T>G) c.3938T>G (p.Leu1313Arg) c.4484T>G (p.Leu1495Arg) c.4301T>G (p.Leu1434Arg) c.4022T>G (p.Leu1341Arg) c.3065T>G (p.Leu1022Arg) c.3056T>G (p.Leu1019Arg) | |
| 5 | g.37016078_37016081del | CA272123 | NIPBL | c.4684_4687del (p.Phe1562LysfsTer26) c.1-48500_1-48497del (n.1-48500_1-48497del) c.3940_3943del (p.Phe1314LysfsTer26) c.4486_4489del (p.Phe1496LysfsTer26) c.4303_4306del (p.Phe1435LysfsTer26) c.4024_4027del (p.Phe1342LysfsTer26) c.3067_3070del (p.Phe1023LysfsTer26) c.3058_3061del (p.Phe1020LysfsTer26) | ClinVar dbSNP |
| 5 | g.37016077G>A | CA443904445 | NIPBL | c.4683G>A (p.Leu1561=) c.1-48501G>A (n.1-48501G>A) c.3939G>A (p.Leu1313=) c.4485G>A (p.Leu1495=) c.4302G>A (p.Leu1434=) c.4023G>A (p.Leu1341=) c.3066G>A (p.Leu1022=) c.3057G>A (p.Leu1019=) | |
| 5 | g.37016077G>C | CA242374 | NIPBL | c.4683G>C (p.Leu1561=) c.1-48501G>C (n.1-48501G>C) c.3939G>C (p.Leu1313=) c.4485G>C (p.Leu1495=) c.4302G>C (p.Leu1434=) c.4023G>C (p.Leu1341=) c.3066G>C (p.Leu1022=) c.3057G>C (p.Leu1019=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016077G= | CA1539615679 | NIPBL | c.4683G= (p.Leu1561=) c.1-48501G= (n.1-48501G=) c.3939G= (p.Leu1313=) c.4485G= (p.Leu1495=) c.4302G= (p.Leu1434=) c.4023G= (p.Leu1341=) c.3066G= (p.Leu1022=) c.3057G= (p.Leu1019=) | |
| 5 | g.37016077G>T | CA443904446 | NIPBL | c.4683G>T (p.Leu1561=) c.1-48501G>T (n.1-48501G>T) c.3939G>T (p.Leu1313=) c.4485G>T (p.Leu1495=) c.4302G>T (p.Leu1434=) c.4023G>T (p.Leu1341=) c.3066G>T (p.Leu1022=) c.3057G>T (p.Leu1019=) | |
| 5 | g.37016077_37016078delinsGT | CA1539615682 | NIPBL | c.4683_4684delinsGT (p.Leu1561=) c.1-48501_1-48500delinsGT (n.1-48501_1-48500delinsGT) c.3939_3940delinsGT (p.Leu1313=) c.4485_4486delinsGT (p.Leu1495=) c.4302_4303delinsGT (p.Leu1434=) c.4023_4024delinsGT (p.Leu1341=) c.3066_3067delinsGT (p.Leu1022=) c.3057_3058delinsGT (p.Leu1019=) | |
| 5 | g.37016078T>A | CA359482362 | NIPBL | c.4684T>A (p.Phe1562Ile) c.1-48500T>A (n.1-48500T>A) c.3940T>A (p.Phe1314Ile) c.4486T>A (p.Phe1496Ile) c.4303T>A (p.Phe1435Ile) c.4024T>A (p.Phe1342Ile) c.3067T>A (p.Phe1023Ile) c.3058T>A (p.Phe1020Ile) | |
| 5 | g.37016078T>C | CA359482353 | NIPBL | c.4684T>C (p.Phe1562Leu) c.1-48500T>C (n.1-48500T>C) c.3940T>C (p.Phe1314Leu) c.4486T>C (p.Phe1496Leu) c.4303T>C (p.Phe1435Leu) c.4024T>C (p.Phe1342Leu) c.3067T>C (p.Phe1023Leu) c.3058T>C (p.Phe1020Leu) | |
| 5 | g.37016078T>G | CA359482361 | NIPBL | c.4684T>G (p.Phe1562Val) c.1-48500T>G (n.1-48500T>G) c.3940T>G (p.Phe1314Val) c.4486T>G (p.Phe1496Val) c.4303T>G (p.Phe1435Val) c.4024T>G (p.Phe1342Val) c.3067T>G (p.Phe1023Val) c.3058T>G (p.Phe1020Val) | |
| 5 | g.37016080del | CA658657439 | NIPBL | c.4686del (p.Phe1562LeufsTer27) c.1-48498del (n.1-48498del) c.3942del (p.Phe1314LeufsTer27) c.4488del (p.Phe1496LeufsTer27) c.4305del (p.Phe1435LeufsTer27) c.4026del (p.Phe1342LeufsTer27) c.3069del (p.Phe1023LeufsTer27) c.3060del (p.Phe1020LeufsTer27) | ClinVar dbSNP |
| 5 | g.37016079T>A | CA359482363 | NIPBL | c.4685T>A (p.Phe1562Tyr) c.1-48499T>A (n.1-48499T>A) c.3941T>A (p.Phe1314Tyr) c.4487T>A (p.Phe1496Tyr) c.4304T>A (p.Phe1435Tyr) c.4025T>A (p.Phe1342Tyr) c.3068T>A (p.Phe1023Tyr) c.3059T>A (p.Phe1020Tyr) | |
| 5 | g.37016079T>C | CA359482364 | NIPBL | c.4685T>C (p.Phe1562Ser) c.1-48499T>C (n.1-48499T>C) c.3941T>C (p.Phe1314Ser) c.4487T>C (p.Phe1496Ser) c.4304T>C (p.Phe1435Ser) c.4025T>C (p.Phe1342Ser) c.3068T>C (p.Phe1023Ser) c.3059T>C (p.Phe1020Ser) | |
| 5 | g.37016079T>G | CA359482366 | NIPBL | c.4685T>G (p.Phe1562Cys) c.1-48499T>G (n.1-48499T>G) c.3941T>G (p.Phe1314Cys) c.4487T>G (p.Phe1496Cys) c.4304T>G (p.Phe1435Cys) c.4025T>G (p.Phe1342Cys) c.3068T>G (p.Phe1023Cys) c.3059T>G (p.Phe1020Cys) | |
| 5 | g.37016080T>A | CA359482370 | NIPBL | c.4686T>A (p.Phe1562Leu) c.1-48498T>A (n.1-48498T>A) c.3942T>A (p.Phe1314Leu) c.4488T>A (p.Phe1496Leu) c.4305T>A (p.Phe1435Leu) c.4026T>A (p.Phe1342Leu) c.3069T>A (p.Phe1023Leu) c.3060T>A (p.Phe1020Leu) | dbSNP |
| 5 | g.37016080T>C | CA443904447 | NIPBL | c.4686T>C (p.Phe1562=) c.1-48498T>C (n.1-48498T>C) c.3942T>C (p.Phe1314=) c.4488T>C (p.Phe1496=) c.4305T>C (p.Phe1435=) c.4026T>C (p.Phe1342=) c.3069T>C (p.Phe1023=) c.3060T>C (p.Phe1020=) | gnomAD v4 |
| 5 | g.37016080T>G | CA359482377 | NIPBL | c.4686T>G (p.Phe1562Leu) c.1-48498T>G (n.1-48498T>G) c.3942T>G (p.Phe1314Leu) c.4488T>G (p.Phe1496Leu) c.4305T>G (p.Phe1435Leu) c.4026T>G (p.Phe1342Leu) c.3069T>G (p.Phe1023Leu) c.3060T>G (p.Phe1020Leu) | |
| 5 | g.37016080T= | CA1539615690 | NIPBL | c.4686T= (p.Phe1562=) c.1-48498T= (n.1-48498T=) c.3942T= (p.Phe1314=) c.4488T= (p.Phe1496=) c.4305T= (p.Phe1435=) c.4026T= (p.Phe1342=) c.3069T= (p.Phe1023=) c.3060T= (p.Phe1020=) | |
| 5 | g.37016081G>A | CA359482380 | NIPBL | c.4687G>A (p.Glu1563Lys) c.1-48497G>A (n.1-48497G>A) c.3943G>A (p.Glu1315Lys) c.4489G>A (p.Glu1497Lys) c.4306G>A (p.Glu1436Lys) c.4027G>A (p.Glu1343Lys) c.3070G>A (p.Glu1024Lys) c.3061G>A (p.Glu1021Lys) | |
| 5 | g.37016081G>C | CA359482382 | NIPBL | c.4687G>C (p.Glu1563Gln) c.1-48497G>C (n.1-48497G>C) c.3943G>C (p.Glu1315Gln) c.4489G>C (p.Glu1497Gln) c.4306G>C (p.Glu1436Gln) c.4027G>C (p.Glu1343Gln) c.3070G>C (p.Glu1024Gln) c.3061G>C (p.Glu1021Gln) | |
| 5 | g.37016081G>T | CA359482383 | NIPBL | c.4687G>T (p.Glu1563Ter) c.1-48497G>T (n.1-48497G>T) c.3943G>T (p.Glu1315Ter) c.4489G>T (p.Glu1497Ter) c.4306G>T (p.Glu1436Ter) c.4027G>T (p.Glu1343Ter) c.3070G>T (p.Glu1024Ter) c.3061G>T (p.Glu1021Ter) | |
| 5 | g.37016082A>C | CA359482389 | NIPBL | c.4688A>C (p.Glu1563Ala) c.1-48496A>C (n.1-48496A>C) c.3944A>C (p.Glu1315Ala) c.4490A>C (p.Glu1497Ala) c.4307A>C (p.Glu1436Ala) c.4028A>C (p.Glu1343Ala) c.3071A>C (p.Glu1024Ala) c.3062A>C (p.Glu1021Ala) | |
| 5 | g.37016082A>G | CA359482385 | NIPBL | c.4688A>G (p.Glu1563Gly) c.1-48496A>G (n.1-48496A>G) c.3944A>G (p.Glu1315Gly) c.4490A>G (p.Glu1497Gly) c.4307A>G (p.Glu1436Gly) c.4028A>G (p.Glu1343Gly) c.3071A>G (p.Glu1024Gly) c.3062A>G (p.Glu1021Gly) | |
| 5 | g.37016082A>T | CA359482384 | NIPBL | c.4688A>T (p.Glu1563Val) c.1-48496A>T (n.1-48496A>T) c.3944A>T (p.Glu1315Val) c.4490A>T (p.Glu1497Val) c.4307A>T (p.Glu1436Val) c.4028A>T (p.Glu1343Val) c.3071A>T (p.Glu1024Val) c.3062A>T (p.Glu1021Val) | |
| 5 | g.37016083A>C | CA359482397 | NIPBL | c.4689A>C (p.Glu1563Asp) c.1-48495A>C (n.1-48495A>C) c.3945A>C (p.Glu1315Asp) c.4491A>C (p.Glu1497Asp) c.4308A>C (p.Glu1436Asp) c.4029A>C (p.Glu1343Asp) c.3072A>C (p.Glu1024Asp) c.3063A>C (p.Glu1021Asp) | |
| 5 | g.37016083A>G | CA443904448 | NIPBL | c.4689A>G (p.Glu1563=) c.1-48495A>G (n.1-48495A>G) c.3945A>G (p.Glu1315=) c.4491A>G (p.Glu1497=) c.4308A>G (p.Glu1436=) c.4029A>G (p.Glu1343=) c.3072A>G (p.Glu1024=) c.3063A>G (p.Glu1021=) | |
| 5 | g.37016083A>T | CA359482399 | NIPBL | c.4689A>T (p.Glu1563Asp) c.1-48495A>T (n.1-48495A>T) c.3945A>T (p.Glu1315Asp) c.4491A>T (p.Glu1497Asp) c.4308A>T (p.Glu1436Asp) c.4029A>T (p.Glu1343Asp) c.3072A>T (p.Glu1024Asp) c.3063A>T (p.Glu1021Asp) | |
| 5 | g.37016084A>C | CA359482402 | NIPBL | c.4690A>C (p.Asn1564His) c.1-48494A>C (n.1-48494A>C) c.3946A>C (p.Asn1316His) c.4492A>C (p.Asn1498His) c.4309A>C (p.Asn1437His) c.4030A>C (p.Asn1344His) c.3073A>C (p.Asn1025His) c.3064A>C (p.Asn1022His) | |
| 5 | g.37016084A>G | CA359482404 | NIPBL | c.4690A>G (p.Asn1564Asp) c.1-48494A>G (n.1-48494A>G) c.3946A>G (p.Asn1316Asp) c.4492A>G (p.Asn1498Asp) c.4309A>G (p.Asn1437Asp) c.4030A>G (p.Asn1344Asp) c.3073A>G (p.Asn1025Asp) c.3064A>G (p.Asn1022Asp) | |
| 5 | g.37016084A>T | CA359482405 | NIPBL | c.4690A>T (p.Asn1564Tyr) c.1-48494A>T (n.1-48494A>T) c.3946A>T (p.Asn1316Tyr) c.4492A>T (p.Asn1498Tyr) c.4309A>T (p.Asn1437Tyr) c.4030A>T (p.Asn1344Tyr) c.3073A>T (p.Asn1025Tyr) c.3064A>T (p.Asn1022Tyr) | |
| 5 | g.37016085A>C | CA359482407 | NIPBL | c.4691A>C (p.Asn1564Thr) c.1-48493A>C (n.1-48493A>C) c.3947A>C (p.Asn1316Thr) c.4493A>C (p.Asn1498Thr) c.4310A>C (p.Asn1437Thr) c.4031A>C (p.Asn1344Thr) c.3074A>C (p.Asn1025Thr) c.3065A>C (p.Asn1022Thr) | |
| 5 | g.37016085A>G | CA359482409 | NIPBL | c.4691A>G (p.Asn1564Ser) c.1-48493A>G (n.1-48493A>G) c.3947A>G (p.Asn1316Ser) c.4493A>G (p.Asn1498Ser) c.4310A>G (p.Asn1437Ser) c.4031A>G (p.Asn1344Ser) c.3074A>G (p.Asn1025Ser) c.3065A>G (p.Asn1022Ser) | |
| 5 | g.37016085A>T | CA359482414 | NIPBL | c.4691A>T (p.Asn1564Ile) c.1-48493A>T (n.1-48493A>T) c.3947A>T (p.Asn1316Ile) c.4493A>T (p.Asn1498Ile) c.4310A>T (p.Asn1437Ile) c.4031A>T (p.Asn1344Ile) c.3074A>T (p.Asn1025Ile) c.3065A>T (p.Asn1022Ile) | gnomAD v4 |