| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020622del | CA272132 | NIPBL | c.5174del (p.Lys1725SerfsTer17) c.1-43956del (n.1-43956del) c.4430del (p.Lys1477SerfsTer17) c.4976del (p.Lys1659SerfsTer17) c.4793del (p.Lys1598SerfsTer17) c.4514del (p.Lys1505SerfsTer17) c.3557del (p.Lys1186SerfsTer17) c.3548del (p.Lys1183SerfsTer17) | ClinVar dbSNP |
| 5 | g.37020622A>C | CA359487260 | NIPBL | c.5174A>C (p.Lys1725Thr) c.1-43956A>C (n.1-43956A>C) c.4430A>C (p.Lys1477Thr) c.4976A>C (p.Lys1659Thr) c.4793A>C (p.Lys1598Thr) c.4514A>C (p.Lys1505Thr) c.3557A>C (p.Lys1186Thr) c.3548A>C (p.Lys1183Thr) | |
| 5 | g.37020622A>G | CA359487261 | NIPBL | c.5174A>G (p.Lys1725Arg) c.1-43956A>G (n.1-43956A>G) c.4430A>G (p.Lys1477Arg) c.4976A>G (p.Lys1659Arg) c.4793A>G (p.Lys1598Arg) c.4514A>G (p.Lys1505Arg) c.3557A>G (p.Lys1186Arg) c.3548A>G (p.Lys1183Arg) | |
| 5 | g.37020622A>T | CA359487262 | NIPBL | c.5174A>T (p.Lys1725Met) c.1-43956A>T (n.1-43956A>T) c.4430A>T (p.Lys1477Met) c.4976A>T (p.Lys1659Met) c.4793A>T (p.Lys1598Met) c.4514A>T (p.Lys1505Met) c.3557A>T (p.Lys1186Met) c.3548A>T (p.Lys1183Met) | |
| 5 | g.37020623G>A | CA3236706 | NIPBL | c.5175G>A (p.Lys1725=) c.1-43955G>A (n.1-43955G>A) c.4431G>A (p.Lys1477=) c.4977G>A (p.Lys1659=) c.4794G>A (p.Lys1598=) c.4515G>A (p.Lys1505=) c.3558G>A (p.Lys1186=) c.3549G>A (p.Lys1183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020623G>C | CA359487263 | NIPBL | c.5175G>C (p.Lys1725Asn) c.1-43955G>C (n.1-43955G>C) c.4431G>C (p.Lys1477Asn) c.4977G>C (p.Lys1659Asn) c.4794G>C (p.Lys1598Asn) c.4515G>C (p.Lys1505Asn) c.3558G>C (p.Lys1186Asn) c.3549G>C (p.Lys1183Asn) | |
| 5 | g.37020623G= | CA1539583986 | NIPBL | c.5175G= (p.Lys1725=) c.1-43955G= (n.1-43955G=) c.4431G= (p.Lys1477=) c.4977G= (p.Lys1659=) c.4794G= (p.Lys1598=) c.4515G= (p.Lys1505=) c.3558G= (p.Lys1186=) c.3549G= (p.Lys1183=) | |
| 5 | g.37020623G>T | CA359487264 | NIPBL | c.5175G>T (p.Lys1725Asn) c.1-43955G>T (n.1-43955G>T) c.4431G>T (p.Lys1477Asn) c.4977G>T (p.Lys1659Asn) c.4794G>T (p.Lys1598Asn) c.4515G>T (p.Lys1505Asn) c.3558G>T (p.Lys1186Asn) c.3549G>T (p.Lys1183Asn) | |
| 5 | g.37020624T>A | CA359487267 | NIPBL | c.5176T>A (p.Phe1726Ile) c.1-43954T>A (n.1-43954T>A) c.4432T>A (p.Phe1478Ile) c.4978T>A (p.Phe1660Ile) c.4795T>A (p.Phe1599Ile) c.4516T>A (p.Phe1506Ile) c.3559T>A (p.Phe1187Ile) c.3550T>A (p.Phe1184Ile) | |
| 5 | g.37020624T>C | CA359487270 | NIPBL | c.5176T>C (p.Phe1726Leu) c.1-43954T>C (n.1-43954T>C) c.4432T>C (p.Phe1478Leu) c.4978T>C (p.Phe1660Leu) c.4795T>C (p.Phe1599Leu) c.4516T>C (p.Phe1506Leu) c.3559T>C (p.Phe1187Leu) c.3550T>C (p.Phe1184Leu) | |
| 5 | g.37020624T>G | CA359487273 | NIPBL | c.5176T>G (p.Phe1726Val) c.1-43954T>G (n.1-43954T>G) c.4432T>G (p.Phe1478Val) c.4978T>G (p.Phe1660Val) c.4795T>G (p.Phe1599Val) c.4516T>G (p.Phe1506Val) c.3559T>G (p.Phe1187Val) c.3550T>G (p.Phe1184Val) | |
| 5 | g.37020625T>A | CA359487284 | NIPBL | c.5177T>A (p.Phe1726Tyr) c.1-43953T>A (n.1-43953T>A) c.4433T>A (p.Phe1478Tyr) c.4979T>A (p.Phe1660Tyr) c.4796T>A (p.Phe1599Tyr) c.4517T>A (p.Phe1506Tyr) c.3560T>A (p.Phe1187Tyr) c.3551T>A (p.Phe1184Tyr) | |
| 5 | g.37020625T>C | CA359487280 | NIPBL | c.5177T>C (p.Phe1726Ser) c.1-43953T>C (n.1-43953T>C) c.4433T>C (p.Phe1478Ser) c.4979T>C (p.Phe1660Ser) c.4796T>C (p.Phe1599Ser) c.4517T>C (p.Phe1506Ser) c.3560T>C (p.Phe1187Ser) c.3551T>C (p.Phe1184Ser) | |
| 5 | g.37020625T>G | CA359487277 | NIPBL | c.5177T>G (p.Phe1726Cys) c.1-43953T>G (n.1-43953T>G) c.4433T>G (p.Phe1478Cys) c.4979T>G (p.Phe1660Cys) c.4796T>G (p.Phe1599Cys) c.4517T>G (p.Phe1506Cys) c.3560T>G (p.Phe1187Cys) c.3551T>G (p.Phe1184Cys) | |
| 5 | g.37020626T>A | CA359487297 | NIPBL | c.5178T>A (p.Phe1726Leu) c.1-43952T>A (n.1-43952T>A) c.4434T>A (p.Phe1478Leu) c.4980T>A (p.Phe1660Leu) c.4797T>A (p.Phe1599Leu) c.4518T>A (p.Phe1506Leu) c.3561T>A (p.Phe1187Leu) c.3552T>A (p.Phe1184Leu) | gnomAD v4 |
| 5 | g.37020626T>C | CA443905086 | NIPBL | c.5178T>C (p.Phe1726=) c.1-43952T>C (n.1-43952T>C) c.4434T>C (p.Phe1478=) c.4980T>C (p.Phe1660=) c.4797T>C (p.Phe1599=) c.4518T>C (p.Phe1506=) c.3561T>C (p.Phe1187=) c.3552T>C (p.Phe1184=) | |
| 5 | g.37020626T>G | CA359487299 | NIPBL | c.5178T>G (p.Phe1726Leu) c.1-43952T>G (n.1-43952T>G) c.4434T>G (p.Phe1478Leu) c.4980T>G (p.Phe1660Leu) c.4797T>G (p.Phe1599Leu) c.4518T>G (p.Phe1506Leu) c.3561T>G (p.Phe1187Leu) c.3552T>G (p.Phe1184Leu) | |
| 5 | g.37020627C>A | CA359487305 | NIPBL | c.5179C>A (p.Leu1727Ile) c.1-43951C>A (n.1-43951C>A) c.4435C>A (p.Leu1479Ile) c.4981C>A (p.Leu1661Ile) c.4798C>A (p.Leu1600Ile) c.4519C>A (p.Leu1507Ile) c.3562C>A (p.Leu1188Ile) c.3553C>A (p.Leu1185Ile) | |
| 5 | g.37020627C>G | CA359487308 | NIPBL | c.5179C>G (p.Leu1727Val) c.1-43951C>G (n.1-43951C>G) c.4435C>G (p.Leu1479Val) c.4981C>G (p.Leu1661Val) c.4798C>G (p.Leu1600Val) c.4519C>G (p.Leu1507Val) c.3562C>G (p.Leu1188Val) c.3553C>G (p.Leu1185Val) | |
| 5 | g.37020627C>T | CA359487311 | NIPBL | c.5179C>T (p.Leu1727Phe) c.1-43951C>T (n.1-43951C>T) c.4435C>T (p.Leu1479Phe) c.4981C>T (p.Leu1661Phe) c.4798C>T (p.Leu1600Phe) c.4519C>T (p.Leu1507Phe) c.3562C>T (p.Leu1188Phe) c.3553C>T (p.Leu1185Phe) | |
| 5 | g.37020628T>A | CA359487314 | NIPBL | c.5180T>A (p.Leu1727His) c.1-43950T>A (n.1-43950T>A) c.4436T>A (p.Leu1479His) c.4982T>A (p.Leu1661His) c.4799T>A (p.Leu1600His) c.4520T>A (p.Leu1507His) c.3563T>A (p.Leu1188His) c.3554T>A (p.Leu1185His) | |
| 5 | g.37020628T>C | CA359487324 | NIPBL | c.5180T>C (p.Leu1727Pro) c.1-43950T>C (n.1-43950T>C) c.4436T>C (p.Leu1479Pro) c.4982T>C (p.Leu1661Pro) c.4799T>C (p.Leu1600Pro) c.4520T>C (p.Leu1507Pro) c.3563T>C (p.Leu1188Pro) c.3554T>C (p.Leu1185Pro) | |
| 5 | g.37020628T>G | CA359487326 | NIPBL | c.5180T>G (p.Leu1727Arg) c.1-43950T>G (n.1-43950T>G) c.4436T>G (p.Leu1479Arg) c.4982T>G (p.Leu1661Arg) c.4799T>G (p.Leu1600Arg) c.4520T>G (p.Leu1507Arg) c.3563T>G (p.Leu1188Arg) c.3554T>G (p.Leu1185Arg) | |
| 5 | g.37020629T>A | CA443905088 | NIPBL | c.5181T>A (p.Leu1727=) c.1-43949T>A (n.1-43949T>A) c.4437T>A (p.Leu1479=) c.4983T>A (p.Leu1661=) c.4800T>A (p.Leu1600=) c.4521T>A (p.Leu1507=) c.3564T>A (p.Leu1188=) c.3555T>A (p.Leu1185=) | |
| 5 | g.37020629T>C | CA443905089 | NIPBL | c.5181T>C (p.Leu1727=) c.1-43949T>C (n.1-43949T>C) c.4437T>C (p.Leu1479=) c.4983T>C (p.Leu1661=) c.4800T>C (p.Leu1600=) c.4521T>C (p.Leu1507=) c.3564T>C (p.Leu1188=) c.3555T>C (p.Leu1185=) | dbSNP gnomAD v4 |
| 5 | g.37020629T>G | CA443905090 | NIPBL | c.5181T>G (p.Leu1727=) c.1-43949T>G (n.1-43949T>G) c.4437T>G (p.Leu1479=) c.4983T>G (p.Leu1661=) c.4800T>G (p.Leu1600=) c.4521T>G (p.Leu1507=) c.3564T>G (p.Leu1188=) c.3555T>G (p.Leu1185=) | |
| 5 | g.37020629T= | CA1539583994 | NIPBL | c.5181T= (p.Leu1727=) c.1-43949T= (n.1-43949T=) c.4437T= (p.Leu1479=) c.4983T= (p.Leu1661=) c.4800T= (p.Leu1600=) c.4521T= (p.Leu1507=) c.3564T= (p.Leu1188=) c.3555T= (p.Leu1185=) | |
| 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) |