| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020615C>A | CA443905073 | NIPBL | c.5167C>A (p.Arg1723=) c.1-43963C>A (n.1-43963C>A) c.4423C>A (p.Arg1475=) c.4969C>A (p.Arg1657=) c.4786C>A (p.Arg1596=) c.4507C>A (p.Arg1503=) c.3550C>A (p.Arg1184=) c.3541C>A (p.Arg1181=) | |
| 5 | g.37020615C= | CA1539619268 | NIPBL | c.5167C= (p.Arg1723=) c.1-43963C= (n.1-43963C=) c.4423C= (p.Arg1475=) c.4969C= (p.Arg1657=) c.4786C= (p.Arg1596=) c.4507C= (p.Arg1503=) c.3550C= (p.Arg1184=) c.3541C= (p.Arg1181=) | |
| 5 | g.37020615C>G | CA359487190 | NIPBL | c.5167C>G (p.Arg1723Gly) c.1-43963C>G (n.1-43963C>G) c.4423C>G (p.Arg1475Gly) c.4969C>G (p.Arg1657Gly) c.4786C>G (p.Arg1596Gly) c.4507C>G (p.Arg1503Gly) c.3550C>G (p.Arg1184Gly) c.3541C>G (p.Arg1181Gly) | |
| 5 | g.37020615C>T | CA252120 | NIPBL | c.5167C>T (p.Arg1723Ter) c.1-43963C>T (n.1-43963C>T) c.4423C>T (p.Arg1475Ter) c.4969C>T (p.Arg1657Ter) c.4786C>T (p.Arg1596Ter) c.4507C>T (p.Arg1503Ter) c.3550C>T (p.Arg1184Ter) c.3541C>T (p.Arg1181Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37020616G>A | CA10620336 | NIPBL | c.5168G>A (p.Arg1723Gln) c.1-43962G>A (n.1-43962G>A) c.4424G>A (p.Arg1475Gln) c.4970G>A (p.Arg1657Gln) c.4787G>A (p.Arg1596Gln) c.4508G>A (p.Arg1503Gln) c.3551G>A (p.Arg1184Gln) c.3542G>A (p.Arg1181Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37020616G>C | CA359487193 | NIPBL | c.5168G>C (p.Arg1723Pro) c.1-43962G>C (n.1-43962G>C) c.4424G>C (p.Arg1475Pro) c.4970G>C (p.Arg1657Pro) c.4787G>C (p.Arg1596Pro) c.4508G>C (p.Arg1503Pro) c.3551G>C (p.Arg1184Pro) c.3542G>C (p.Arg1181Pro) | |
| 5 | g.37020616G= | CA1539619270 | NIPBL | c.5168G= (p.Arg1723=) c.1-43962G= (n.1-43962G=) c.4424G= (p.Arg1475=) c.4970G= (p.Arg1657=) c.4787G= (p.Arg1596=) c.4508G= (p.Arg1503=) c.3551G= (p.Arg1184=) c.3542G= (p.Arg1181=) | |
| 5 | g.37020616G>T | CA359487195 | NIPBL | c.5168G>T (p.Arg1723Leu) c.1-43962G>T (n.1-43962G>T) c.4424G>T (p.Arg1475Leu) c.4970G>T (p.Arg1657Leu) c.4787G>T (p.Arg1596Leu) c.4508G>T (p.Arg1503Leu) c.3551G>T (p.Arg1184Leu) c.3542G>T (p.Arg1181Leu) | |
| 5 | g.37020616_37020617delinsGA | CA1539619269 | NIPBL | c.5168_5169delinsGA (p.Arg1723=) c.1-43962_1-43961delinsGA (n.1-43962_1-43961delinsGA) c.4424_4425delinsGA (p.Arg1475=) c.4970_4971delinsGA (p.Arg1657=) c.4787_4788delinsGA (p.Arg1596=) c.4508_4509delinsGA (p.Arg1503=) c.3551_3552delinsGA (p.Arg1184=) c.3542_3543delinsGA (p.Arg1181=) | |
| 5 | g.37020617A>C | CA443905078 | NIPBL | c.5169A>C (p.Arg1723=) c.1-43961A>C (n.1-43961A>C) c.4425A>C (p.Arg1475=) c.4971A>C (p.Arg1657=) c.4788A>C (p.Arg1596=) c.4509A>C (p.Arg1503=) c.3552A>C (p.Arg1184=) c.3543A>C (p.Arg1181=) | |
| 5 | g.37020617A>G | CA443905077 | NIPBL | c.5169A>G (p.Arg1723=) c.1-43961A>G (n.1-43961A>G) c.4425A>G (p.Arg1475=) c.4971A>G (p.Arg1657=) c.4788A>G (p.Arg1596=) c.4509A>G (p.Arg1503=) c.3552A>G (p.Arg1184=) c.3543A>G (p.Arg1181=) | |
| 5 | g.37020617A>T | CA443905075 | NIPBL | c.5169A>T (p.Arg1723=) c.1-43961A>T (n.1-43961A>T) c.4425A>T (p.Arg1475=) c.4971A>T (p.Arg1657=) c.4788A>T (p.Arg1596=) c.4509A>T (p.Arg1503=) c.3552A>T (p.Arg1184=) c.3543A>T (p.Arg1181=) | |
| 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.37020618A= | CA1539583959 | NIPBL | c.5170A= (p.Lys1724=) c.1-43960A= (n.1-43960A=) c.4426A= (p.Lys1476=) c.4972A= (p.Lys1658=) c.4789A= (p.Lys1597=) c.4510A= (p.Lys1504=) c.3553A= (p.Lys1185=) c.3544A= (p.Lys1182=) | |
| 5 | g.37020618A>C | CA359487202 | NIPBL | c.5170A>C (p.Lys1724Gln) c.1-43960A>C (n.1-43960A>C) c.4426A>C (p.Lys1476Gln) c.4972A>C (p.Lys1658Gln) c.4789A>C (p.Lys1597Gln) c.4510A>C (p.Lys1504Gln) c.3553A>C (p.Lys1185Gln) c.3544A>C (p.Lys1182Gln) | |
| 5 | g.37020618A>G | CA359487205 | NIPBL | c.5170A>G (p.Lys1724Glu) c.1-43960A>G (n.1-43960A>G) c.4426A>G (p.Lys1476Glu) c.4972A>G (p.Lys1658Glu) c.4789A>G (p.Lys1597Glu) c.4510A>G (p.Lys1504Glu) c.3553A>G (p.Lys1185Glu) c.3544A>G (p.Lys1182Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020618A>T | CA359487210 | NIPBL | c.5170A>T (p.Lys1724Ter) c.1-43960A>T (n.1-43960A>T) c.4426A>T (p.Lys1476Ter) c.4972A>T (p.Lys1658Ter) c.4789A>T (p.Lys1597Ter) c.4510A>T (p.Lys1504Ter) c.3553A>T (p.Lys1185Ter) c.3544A>T (p.Lys1182Ter) | |
| 5 | g.37020619A>C | CA359487216 | NIPBL | c.5171A>C (p.Lys1724Thr) c.1-43959A>C (n.1-43959A>C) c.4427A>C (p.Lys1476Thr) c.4973A>C (p.Lys1658Thr) c.4790A>C (p.Lys1597Thr) c.4511A>C (p.Lys1504Thr) c.3554A>C (p.Lys1185Thr) c.3545A>C (p.Lys1182Thr) | gnomAD v4 |
| 5 | g.37020619A>G | CA359487226 | NIPBL | c.5171A>G (p.Lys1724Arg) c.1-43959A>G (n.1-43959A>G) c.4427A>G (p.Lys1476Arg) c.4973A>G (p.Lys1658Arg) c.4790A>G (p.Lys1597Arg) c.4511A>G (p.Lys1504Arg) c.3554A>G (p.Lys1185Arg) c.3545A>G (p.Lys1182Arg) | |
| 5 | g.37020619A>T | CA359487229 | NIPBL | c.5171A>T (p.Lys1724Ile) c.1-43959A>T (n.1-43959A>T) c.4427A>T (p.Lys1476Ile) c.4973A>T (p.Lys1658Ile) c.4790A>T (p.Lys1597Ile) c.4511A>T (p.Lys1504Ile) c.3554A>T (p.Lys1185Ile) c.3545A>T (p.Lys1182Ile) | |
| 5 | g.37020620A>C | CA359487238 | NIPBL | c.5172A>C (p.Lys1724Asn) c.1-43958A>C (n.1-43958A>C) c.4428A>C (p.Lys1476Asn) c.4974A>C (p.Lys1658Asn) c.4791A>C (p.Lys1597Asn) c.4512A>C (p.Lys1504Asn) c.3555A>C (p.Lys1185Asn) c.3546A>C (p.Lys1182Asn) | |
| 5 | g.37020620A>G | CA443905081 | NIPBL | c.5172A>G (p.Lys1724=) c.1-43958A>G (n.1-43958A>G) c.4428A>G (p.Lys1476=) c.4974A>G (p.Lys1658=) c.4791A>G (p.Lys1597=) c.4512A>G (p.Lys1504=) c.3555A>G (p.Lys1185=) c.3546A>G (p.Lys1182=) | |
| 5 | g.37020620A>T | CA359487234 | NIPBL | c.5172A>T (p.Lys1724Asn) c.1-43958A>T (n.1-43958A>T) c.4428A>T (p.Lys1476Asn) c.4974A>T (p.Lys1658Asn) c.4791A>T (p.Lys1597Asn) c.4512A>T (p.Lys1504Asn) c.3555A>T (p.Lys1185Asn) c.3546A>T (p.Lys1182Asn) | |
| 5 | g.37020621A>C | CA359487253 | NIPBL | c.5173A>C (p.Lys1725Gln) c.1-43957A>C (n.1-43957A>C) c.4429A>C (p.Lys1477Gln) c.4975A>C (p.Lys1659Gln) c.4792A>C (p.Lys1598Gln) c.4513A>C (p.Lys1505Gln) c.3556A>C (p.Lys1186Gln) c.3547A>C (p.Lys1183Gln) | |
| 5 | g.37020621A>G | CA359487255 | NIPBL | c.5173A>G (p.Lys1725Glu) c.1-43957A>G (n.1-43957A>G) c.4429A>G (p.Lys1477Glu) c.4975A>G (p.Lys1659Glu) c.4792A>G (p.Lys1598Glu) c.4513A>G (p.Lys1505Glu) c.3556A>G (p.Lys1186Glu) c.3547A>G (p.Lys1183Glu) | |
| 5 | g.37020621A>T | CA359487258 | NIPBL | c.5173A>T (p.Lys1725Ter) c.1-43957A>T (n.1-43957A>T) c.4429A>T (p.Lys1477Ter) c.4975A>T (p.Lys1659Ter) c.4792A>T (p.Lys1598Ter) c.4513A>T (p.Lys1505Ter) c.3556A>T (p.Lys1186Ter) c.3547A>T (p.Lys1183Ter) | |
| 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 |