| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020630A= | CA1539584001 | NIPBL | c.5182A= (p.Arg1728=) c.1-43948A= (n.1-43948A=) c.4438A= (p.Arg1480=) c.4984A= (p.Arg1662=) c.4801A= (p.Arg1601=) c.4522A= (p.Arg1508=) c.3565A= (p.Arg1189=) c.3556A= (p.Arg1186=) | |
| 5 | g.37020630A>C | CA443905092 | NIPBL | c.5182A>C (p.Arg1728=) c.1-43948A>C (n.1-43948A>C) c.4438A>C (p.Arg1480=) c.4984A>C (p.Arg1662=) c.4801A>C (p.Arg1601=) c.4522A>C (p.Arg1508=) c.3565A>C (p.Arg1189=) c.3556A>C (p.Arg1186=) | |
| 5 | g.37020630A>G | CA3236707 | NIPBL | c.5182A>G (p.Arg1728Gly) c.1-43948A>G (n.1-43948A>G) c.4438A>G (p.Arg1480Gly) c.4984A>G (p.Arg1662Gly) c.4801A>G (p.Arg1601Gly) c.4522A>G (p.Arg1508Gly) c.3565A>G (p.Arg1189Gly) c.3556A>G (p.Arg1186Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020630A>T | CA359487334 | NIPBL | c.5182A>T (p.Arg1728Ter) c.1-43948A>T (n.1-43948A>T) c.4438A>T (p.Arg1480Ter) c.4984A>T (p.Arg1662Ter) c.4801A>T (p.Arg1601Ter) c.4522A>T (p.Arg1508Ter) c.3565A>T (p.Arg1189Ter) c.3556A>T (p.Arg1186Ter) | |
| 5 | g.37020631G>A | CA359487338 | NIPBL | c.5183G>A (p.Arg1728Lys) c.1-43947G>A (n.1-43947G>A) c.4439G>A (p.Arg1480Lys) c.4985G>A (p.Arg1662Lys) c.4802G>A (p.Arg1601Lys) c.4523G>A (p.Arg1508Lys) c.3566G>A (p.Arg1189Lys) c.3557G>A (p.Arg1186Lys) | gnomAD v4 |
| 5 | g.37020631G>C | CA359487343 | NIPBL | c.5183G>C (p.Arg1728Thr) c.1-43947G>C (n.1-43947G>C) c.4439G>C (p.Arg1480Thr) c.4985G>C (p.Arg1662Thr) c.4802G>C (p.Arg1601Thr) c.4523G>C (p.Arg1508Thr) c.3566G>C (p.Arg1189Thr) c.3557G>C (p.Arg1186Thr) | |
| 5 | g.37020631G>T | CA359487341 | NIPBL | c.5183G>T (p.Arg1728Ile) c.1-43947G>T (n.1-43947G>T) c.4439G>T (p.Arg1480Ile) c.4985G>T (p.Arg1662Ile) c.4802G>T (p.Arg1601Ile) c.4523G>T (p.Arg1508Ile) c.3566G>T (p.Arg1189Ile) c.3557G>T (p.Arg1186Ile) | |
| 5 | g.37020632A= | CA1539584006 | NIPBL | c.5184A= (p.Arg1728=) c.1-43946A= (n.1-43946A=) c.4440A= (p.Arg1480=) c.4986A= (p.Arg1662=) c.4803A= (p.Arg1601=) c.4524A= (p.Arg1508=) c.3567A= (p.Arg1189=) c.3558A= (p.Arg1186=) | |
| 5 | g.37020632A>C | CA359487348 | NIPBL | c.5184A>C (p.Arg1728Ser) c.1-43946A>C (n.1-43946A>C) c.4440A>C (p.Arg1480Ser) c.4986A>C (p.Arg1662Ser) c.4803A>C (p.Arg1601Ser) c.4524A>C (p.Arg1508Ser) c.3567A>C (p.Arg1189Ser) c.3558A>C (p.Arg1186Ser) | |
| 5 | g.37020632A>G | CA443905094 | NIPBL | c.5184A>G (p.Arg1728=) c.1-43946A>G (n.1-43946A>G) c.4440A>G (p.Arg1480=) c.4986A>G (p.Arg1662=) c.4803A>G (p.Arg1601=) c.4524A>G (p.Arg1508=) c.3567A>G (p.Arg1189=) c.3558A>G (p.Arg1186=) | |
| 5 | g.37020632A>T | CA3236708 | NIPBL | c.5184A>T (p.Arg1728Ser) c.1-43946A>T (n.1-43946A>T) c.4440A>T (p.Arg1480Ser) c.4986A>T (p.Arg1662Ser) c.4803A>T (p.Arg1601Ser) c.4524A>T (p.Arg1508Ser) c.3567A>T (p.Arg1189Ser) c.3558A>T (p.Arg1186Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020633A>C | CA359487353 | NIPBL | c.5185A>C (p.Ser1729Arg) c.1-43945A>C (n.1-43945A>C) c.4441A>C (p.Ser1481Arg) c.4987A>C (p.Ser1663Arg) c.4804A>C (p.Ser1602Arg) c.4525A>C (p.Ser1509Arg) c.3568A>C (p.Ser1190Arg) c.3559A>C (p.Ser1187Arg) | |
| 5 | g.37020633A>G | CA359487355 | NIPBL | c.5185A>G (p.Ser1729Gly) c.1-43945A>G (n.1-43945A>G) c.4441A>G (p.Ser1481Gly) c.4987A>G (p.Ser1663Gly) c.4804A>G (p.Ser1602Gly) c.4525A>G (p.Ser1509Gly) c.3568A>G (p.Ser1190Gly) c.3559A>G (p.Ser1187Gly) | |
| 5 | g.37020633A>T | CA359487360 | NIPBL | c.5185A>T (p.Ser1729Cys) c.1-43945A>T (n.1-43945A>T) c.4441A>T (p.Ser1481Cys) c.4987A>T (p.Ser1663Cys) c.4804A>T (p.Ser1602Cys) c.4525A>T (p.Ser1509Cys) c.3568A>T (p.Ser1190Cys) c.3559A>T (p.Ser1187Cys) | |
| 5 | g.37020634G>A | CA359487363 | NIPBL | c.5186G>A (p.Ser1729Asn) c.1-43944G>A (n.1-43944G>A) c.4442G>A (p.Ser1481Asn) c.4988G>A (p.Ser1663Asn) c.4805G>A (p.Ser1602Asn) c.4526G>A (p.Ser1509Asn) c.3569G>A (p.Ser1190Asn) c.3560G>A (p.Ser1187Asn) | gnomAD v4 |
| 5 | g.37020634G>C | CA359487366 | NIPBL | c.5186G>C (p.Ser1729Thr) c.1-43944G>C (n.1-43944G>C) c.4442G>C (p.Ser1481Thr) c.4988G>C (p.Ser1663Thr) c.4805G>C (p.Ser1602Thr) c.4526G>C (p.Ser1509Thr) c.3569G>C (p.Ser1190Thr) c.3560G>C (p.Ser1187Thr) | |
| 5 | g.37020634G>T | CA359487364 | NIPBL | c.5186G>T (p.Ser1729Ile) c.1-43944G>T (n.1-43944G>T) c.4442G>T (p.Ser1481Ile) c.4988G>T (p.Ser1663Ile) c.4805G>T (p.Ser1602Ile) c.4526G>T (p.Ser1509Ile) c.3569G>T (p.Ser1190Ile) c.3560G>T (p.Ser1187Ile) | |
| 5 | g.37020635C>A | CA359487369 | NIPBL | c.5187C>A (p.Ser1729Arg) c.1-43943C>A (n.1-43943C>A) c.4443C>A (p.Ser1481Arg) c.4989C>A (p.Ser1663Arg) c.4806C>A (p.Ser1602Arg) c.4527C>A (p.Ser1509Arg) c.3570C>A (p.Ser1190Arg) c.3561C>A (p.Ser1187Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020635C= | CA1539584040 | NIPBL | c.5187C= (p.Ser1729=) c.1-43943C= (n.1-43943C=) c.4443C= (p.Ser1481=) c.4989C= (p.Ser1663=) c.4806C= (p.Ser1602=) c.4527C= (p.Ser1509=) c.3570C= (p.Ser1190=) c.3561C= (p.Ser1187=) | |
| 5 | g.37020635C>G | CA359487371 | NIPBL | c.5187C>G (p.Ser1729Arg) c.1-43943C>G (n.1-43943C>G) c.4443C>G (p.Ser1481Arg) c.4989C>G (p.Ser1663Arg) c.4806C>G (p.Ser1602Arg) c.4527C>G (p.Ser1509Arg) c.3570C>G (p.Ser1190Arg) c.3561C>G (p.Ser1187Arg) | |
| 5 | g.37020635C>T | CA117028018 | NIPBL | c.5187C>T (p.Ser1729=) c.1-43943C>T (n.1-43943C>T) c.4443C>T (p.Ser1481=) c.4989C>T (p.Ser1663=) c.4806C>T (p.Ser1602=) c.4527C>T (p.Ser1509=) c.3570C>T (p.Ser1190=) c.3561C>T (p.Ser1187=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020636A= | CA1539584052 | NIPBL | c.5188A= (p.Ile1730=) c.1-43942A= (n.1-43942A=) c.4444A= (p.Ile1482=) c.4990A= (p.Ile1664=) c.4807A= (p.Ile1603=) c.4528A= (p.Ile1510=) c.3571A= (p.Ile1191=) c.3562A= (p.Ile1188=) | |
| 5 | g.37020636A>C | CA359487374 | NIPBL | c.5188A>C (p.Ile1730Leu) c.1-43942A>C (n.1-43942A>C) c.4444A>C (p.Ile1482Leu) c.4990A>C (p.Ile1664Leu) c.4807A>C (p.Ile1603Leu) c.4528A>C (p.Ile1510Leu) c.3571A>C (p.Ile1191Leu) c.3562A>C (p.Ile1188Leu) | |
| 5 | g.37020636A>G | CA3236709 | NIPBL | c.5188A>G (p.Ile1730Val) c.1-43942A>G (n.1-43942A>G) c.4444A>G (p.Ile1482Val) c.4990A>G (p.Ile1664Val) c.4807A>G (p.Ile1603Val) c.4528A>G (p.Ile1510Val) c.3571A>G (p.Ile1191Val) c.3562A>G (p.Ile1188Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020636A>T | CA359487379 | NIPBL | c.5188A>T (p.Ile1730Phe) c.1-43942A>T (n.1-43942A>T) c.4444A>T (p.Ile1482Phe) c.4990A>T (p.Ile1664Phe) c.4807A>T (p.Ile1603Phe) c.4528A>T (p.Ile1510Phe) c.3571A>T (p.Ile1191Phe) c.3562A>T (p.Ile1188Phe) | |
| 5 | g.37020637T>A | CA359487382 | NIPBL | c.5189T>A (p.Ile1730Asn) c.1-43941T>A (n.1-43941T>A) c.4445T>A (p.Ile1482Asn) c.4991T>A (p.Ile1664Asn) c.4808T>A (p.Ile1603Asn) c.4529T>A (p.Ile1510Asn) c.3572T>A (p.Ile1191Asn) c.3563T>A (p.Ile1188Asn) | |
| 5 | g.37020637T>C | CA359487385 | NIPBL | c.5189T>C (p.Ile1730Thr) c.1-43941T>C (n.1-43941T>C) c.4445T>C (p.Ile1482Thr) c.4991T>C (p.Ile1664Thr) c.4808T>C (p.Ile1603Thr) c.4529T>C (p.Ile1510Thr) c.3572T>C (p.Ile1191Thr) c.3563T>C (p.Ile1188Thr) | |
| 5 | g.37020637T>G | CA359487387 | NIPBL | c.5189T>G (p.Ile1730Ser) c.1-43941T>G (n.1-43941T>G) c.4445T>G (p.Ile1482Ser) c.4991T>G (p.Ile1664Ser) c.4808T>G (p.Ile1603Ser) c.4529T>G (p.Ile1510Ser) c.3572T>G (p.Ile1191Ser) c.3563T>G (p.Ile1188Ser) | |
| 5 | g.37020638T>A | CA443905101 | NIPBL | c.5190T>A (p.Ile1730=) c.1-43940T>A (n.1-43940T>A) c.4446T>A (p.Ile1482=) c.4992T>A (p.Ile1664=) c.4809T>A (p.Ile1603=) c.4530T>A (p.Ile1510=) c.3573T>A (p.Ile1191=) c.3564T>A (p.Ile1188=) | |
| 5 | g.37020638T>C | CA443905102 | NIPBL | c.5190T>C (p.Ile1730=) c.1-43940T>C (n.1-43940T>C) c.4446T>C (p.Ile1482=) c.4992T>C (p.Ile1664=) c.4809T>C (p.Ile1603=) c.4530T>C (p.Ile1510=) c.3573T>C (p.Ile1191=) c.3564T>C (p.Ile1188=) | |
| 5 | g.37020638T>G | CA359487388 | NIPBL | c.5190T>G (p.Ile1730Met) c.1-43940T>G (n.1-43940T>G) c.4446T>G (p.Ile1482Met) c.4992T>G (p.Ile1664Met) c.4809T>G (p.Ile1603Met) c.4530T>G (p.Ile1510Met) c.3573T>G (p.Ile1191Met) c.3564T>G (p.Ile1188Met) | |
| 5 | g.37020639A= | CA1539584056 | NIPBL | c.5191A= (p.Ile1731=) c.1-43939A= (n.1-43939A=) c.4447A= (p.Ile1483=) c.4993A= (p.Ile1665=) c.4810A= (p.Ile1604=) c.4531A= (p.Ile1511=) c.3574A= (p.Ile1192=) c.3565A= (p.Ile1189=) | |
| 5 | g.37020639A>C | CA359487391 | NIPBL | c.5191A>C (p.Ile1731Leu) c.1-43939A>C (n.1-43939A>C) c.4447A>C (p.Ile1483Leu) c.4993A>C (p.Ile1665Leu) c.4810A>C (p.Ile1604Leu) c.4531A>C (p.Ile1511Leu) c.3574A>C (p.Ile1192Leu) c.3565A>C (p.Ile1189Leu) | |
| 5 | g.37020639A>G | CA3236710 | NIPBL | c.5191A>G (p.Ile1731Val) c.1-43939A>G (n.1-43939A>G) c.4447A>G (p.Ile1483Val) c.4993A>G (p.Ile1665Val) c.4810A>G (p.Ile1604Val) c.4531A>G (p.Ile1511Val) c.3574A>G (p.Ile1192Val) c.3565A>G (p.Ile1189Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020639A>T | CA359487393 | NIPBL | c.5191A>T (p.Ile1731Phe) c.1-43939A>T (n.1-43939A>T) c.4447A>T (p.Ile1483Phe) c.4993A>T (p.Ile1665Phe) c.4810A>T (p.Ile1604Phe) c.4531A>T (p.Ile1511Phe) c.3574A>T (p.Ile1192Phe) c.3565A>T (p.Ile1189Phe) | |
| 5 | g.37020640T>A | CA359487399 | NIPBL | c.5192T>A (p.Ile1731Asn) c.1-43938T>A (n.1-43938T>A) c.4448T>A (p.Ile1483Asn) c.4994T>A (p.Ile1665Asn) c.4811T>A (p.Ile1604Asn) c.4532T>A (p.Ile1511Asn) c.3575T>A (p.Ile1192Asn) c.3566T>A (p.Ile1189Asn) | |
| 5 | g.37020640T>C | CA359487406 | NIPBL | c.5192T>C (p.Ile1731Thr) c.1-43938T>C (n.1-43938T>C) c.4448T>C (p.Ile1483Thr) c.4994T>C (p.Ile1665Thr) c.4811T>C (p.Ile1604Thr) c.4532T>C (p.Ile1511Thr) c.3575T>C (p.Ile1192Thr) c.3566T>C (p.Ile1189Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020640T>G | CA359487404 | NIPBL | c.5192T>G (p.Ile1731Ser) c.1-43938T>G (n.1-43938T>G) c.4448T>G (p.Ile1483Ser) c.4994T>G (p.Ile1665Ser) c.4811T>G (p.Ile1604Ser) c.4532T>G (p.Ile1511Ser) c.3575T>G (p.Ile1192Ser) c.3566T>G (p.Ile1189Ser) | |
| 5 | g.37020640T= | CA1539584060 | NIPBL | c.5192T= (p.Ile1731=) c.1-43938T= (n.1-43938T=) c.4448T= (p.Ile1483=) c.4994T= (p.Ile1665=) c.4811T= (p.Ile1604=) c.4532T= (p.Ile1511=) c.3575T= (p.Ile1192=) c.3566T= (p.Ile1189=) | |
| 5 | g.37020641C>A | CA443905106 | NIPBL | c.5193C>A (p.Ile1731=) c.1-43937C>A (n.1-43937C>A) c.4449C>A (p.Ile1483=) c.4995C>A (p.Ile1665=) c.4812C>A (p.Ile1604=) c.4533C>A (p.Ile1511=) c.3576C>A (p.Ile1192=) c.3567C>A (p.Ile1189=) | |
| 5 | g.37020641C>G | CA359487413 | NIPBL | c.5193C>G (p.Ile1731Met) c.1-43937C>G (n.1-43937C>G) c.4449C>G (p.Ile1483Met) c.4995C>G (p.Ile1665Met) c.4812C>G (p.Ile1604Met) c.4533C>G (p.Ile1511Met) c.3576C>G (p.Ile1192Met) c.3567C>G (p.Ile1189Met) | |
| 5 | g.37020641C>T | CA443905107 | NIPBL | c.5193C>T (p.Ile1731=) c.1-43937C>T (n.1-43937C>T) c.4449C>T (p.Ile1483=) c.4995C>T (p.Ile1665=) c.4812C>T (p.Ile1604=) c.4533C>T (p.Ile1511=) c.3576C>T (p.Ile1192=) c.3567C>T (p.Ile1189=) | |
| 5 | g.37020642A>C | CA359487414 | NIPBL | c.5194A>C (p.Lys1732Gln) c.1-43936A>C (n.1-43936A>C) c.4450A>C (p.Lys1484Gln) c.4996A>C (p.Lys1666Gln) c.4813A>C (p.Lys1605Gln) c.4534A>C (p.Lys1512Gln) c.3577A>C (p.Lys1193Gln) c.3568A>C (p.Lys1190Gln) | |
| 5 | g.37020642A>G | CA359487416 | NIPBL | c.5194A>G (p.Lys1732Glu) c.1-43936A>G (n.1-43936A>G) c.4450A>G (p.Lys1484Glu) c.4996A>G (p.Lys1666Glu) c.4813A>G (p.Lys1605Glu) c.4534A>G (p.Lys1512Glu) c.3577A>G (p.Lys1193Glu) c.3568A>G (p.Lys1190Glu) | |
| 5 | g.37020642A>T | CA359487418 | NIPBL | c.5194A>T (p.Lys1732Ter) c.1-43936A>T (n.1-43936A>T) c.4450A>T (p.Lys1484Ter) c.4996A>T (p.Lys1666Ter) c.4813A>T (p.Lys1605Ter) c.4534A>T (p.Lys1512Ter) c.3577A>T (p.Lys1193Ter) c.3568A>T (p.Lys1190Ter) | |
| 5 | g.37020643A= | CA1539584071 | NIPBL | c.5195A= (p.Lys1732=) c.1-43935A= (n.1-43935A=) c.4451A= (p.Lys1484=) c.4997A= (p.Lys1666=) c.4814A= (p.Lys1605=) c.4535A= (p.Lys1512=) c.3578A= (p.Lys1193=) c.3569A= (p.Lys1190=) | |
| 5 | g.37020643A>C | CA359487419 | NIPBL | c.5195A>C (p.Lys1732Thr) c.1-43935A>C (n.1-43935A>C) c.4451A>C (p.Lys1484Thr) c.4997A>C (p.Lys1666Thr) c.4814A>C (p.Lys1605Thr) c.4535A>C (p.Lys1512Thr) c.3578A>C (p.Lys1193Thr) c.3569A>C (p.Lys1190Thr) | |
| 5 | g.37020643A>G | CA3236711 | NIPBL | c.5195A>G (p.Lys1732Arg) c.1-43935A>G (n.1-43935A>G) c.4451A>G (p.Lys1484Arg) c.4997A>G (p.Lys1666Arg) c.4814A>G (p.Lys1605Arg) c.4535A>G (p.Lys1512Arg) c.3578A>G (p.Lys1193Arg) c.3569A>G (p.Lys1190Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020643A>T | CA359487423 | NIPBL | c.5195A>T (p.Lys1732Ile) c.1-43935A>T (n.1-43935A>T) c.4451A>T (p.Lys1484Ile) c.4997A>T (p.Lys1666Ile) c.4814A>T (p.Lys1605Ile) c.4535A>T (p.Lys1512Ile) c.3578A>T (p.Lys1193Ile) c.3569A>T (p.Lys1190Ile) | |
| 5 | g.37020644A>C | CA359487427 | NIPBL | c.5196A>C (p.Lys1732Asn) c.1-43934A>C (n.1-43934A>C) c.4452A>C (p.Lys1484Asn) c.4998A>C (p.Lys1666Asn) c.4815A>C (p.Lys1605Asn) c.4536A>C (p.Lys1512Asn) c.3579A>C (p.Lys1193Asn) c.3570A>C (p.Lys1190Asn) |