Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37020615C>ACA443905073NIPBLc.5167C>A (p.Arg1723=)
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=)
c.1-43963C>A (p.=)
5g.37020615C>GCA359487190NIPBLc.5167C>G (p.Arg1723Gly)
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)
c.1-43963C>G (p.=)
5g.37020615C>TCA252120NIPBLc.5167C>T (p.Arg1723Ter)
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)
c.1-43963C>T (p.=)
ClinVar dbSNP COSMIC COSMIC
5g.37020616G>ACA10620336NIPBLc.5168G>A (p.Arg1723Gln)
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)
c.1-43962G>A (p.=)
ClinVar dbSNP
5g.37020616G>CCA359487193NIPBLc.5168G>C (p.Arg1723Pro)
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)
c.1-43962G>C (p.=)
5g.37020616G>TCA359487195NIPBLc.5168G>T (p.Arg1723Leu)
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)
c.1-43962G>T (p.=)
5g.37020617A>CCA443905078NIPBLc.5169A>C (p.Arg1723=)
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=)
c.1-43961A>C (p.=)
5g.37020617A>GCA443905077NIPBLc.5169A>G (p.Arg1723=)
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=)
c.1-43961A>G (p.=)
5g.37020617A>TCA443905075NIPBLc.5169A>T (p.Arg1723=)
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=)
c.1-43961A>T (p.=)
5g.37020622delCA272132NIPBLc.5174del (p.Lys1725SerfsTer17)
c.4430del (p.Lys1477SerfsTer17)
c.4976del (p.Lys1659SerfsTer17)
c.4793del (p.Lys1598SerfsTer17)
c.4514del (p.Lys1505SerfsTer17)
c.3557del (p.Lys1186SerfsTer17)
c.3548del (p.Lys1183SerfsTer17)
c.1-43956del (p.=)
ClinVar dbSNP
5g.37020618A>CCA359487202NIPBLc.5170A>C (p.Lys1724Gln)
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)
c.1-43960A>C (p.=)
5g.37020618A>GCA359487205NIPBLc.5170A>G (p.Lys1724Glu)
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)
c.1-43960A>G (p.=)
gnomAD
5g.37020618A>TCA359487210NIPBLc.5170A>T (p.Lys1724Ter)
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)
c.1-43960A>T (p.=)
5g.37020619A>CCA359487216NIPBLc.5171A>C (p.Lys1724Thr)
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)
c.1-43959A>C (p.=)
5g.37020619A>GCA359487226NIPBLc.5171A>G (p.Lys1724Arg)
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)
c.1-43959A>G (p.=)
5g.37020619A>TCA359487229NIPBLc.5171A>T (p.Lys1724Ile)
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)
c.1-43959A>T (p.=)
5g.37020620A>CCA359487238NIPBLc.5172A>C (p.Lys1724Asn)
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)
c.1-43958A>C (p.=)
5g.37020620A>GCA443905081NIPBLc.5172A>G (p.Lys1724=)
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=)
c.1-43958A>G (p.=)
5g.37020620A>TCA359487234NIPBLc.5172A>T (p.Lys1724Asn)
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)
c.1-43958A>T (p.=)
5g.37020621A>CCA359487253NIPBLc.5173A>C (p.Lys1725Gln)
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)
c.1-43957A>C (p.=)
5g.37020621A>GCA359487255NIPBLc.5173A>G (p.Lys1725Glu)
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)
c.1-43957A>G (p.=)
5g.37020621A>TCA359487258NIPBLc.5173A>T (p.Lys1725Ter)
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)
c.1-43957A>T (p.=)
5g.37020622A>CCA359487260NIPBLc.5174A>C (p.Lys1725Thr)
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)
c.1-43956A>C (p.=)
5g.37020622A>GCA359487261NIPBLc.5174A>G (p.Lys1725Arg)
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)
c.1-43956A>G (p.=)
5g.37020622A>TCA359487262NIPBLc.5174A>T (p.Lys1725Met)
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)
c.1-43956A>T (p.=)
5g.37020623G>ACA3236706NIPBLc.5175G>A (p.Lys1725=)
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=)
c.1-43955G>A (p.=)
dbSNP ExAC gnomAD
5g.37020623G>CCA359487263NIPBLc.5175G>C (p.Lys1725Asn)
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)
c.1-43955G>C (p.=)
5g.37020623G>TCA359487264NIPBLc.5175G>T (p.Lys1725Asn)
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)
c.1-43955G>T (p.=)
5g.37020624T>ACA359487267NIPBLc.5176T>A (p.Phe1726Ile)
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)
c.1-43954T>A (p.=)
5g.37020624T>CCA359487270NIPBLc.5176T>C (p.Phe1726Leu)
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)
c.1-43954T>C (p.=)
5g.37020624T>GCA359487273NIPBLc.5176T>G (p.Phe1726Val)
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)
c.1-43954T>G (p.=)
5g.37020625T>ACA359487284NIPBLc.5177T>A (p.Phe1726Tyr)
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)
c.1-43953T>A (p.=)
5g.37020625T>CCA359487280NIPBLc.5177T>C (p.Phe1726Ser)
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)
c.1-43953T>C (p.=)
5g.37020625T>GCA359487277NIPBLc.5177T>G (p.Phe1726Cys)
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)
c.1-43953T>G (p.=)
5g.37020626T>ACA359487297NIPBLc.5178T>A (p.Phe1726Leu)
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)
c.1-43952T>A (p.=)
5g.37020626T>CCA443905086NIPBLc.5178T>C (p.Phe1726=)
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=)
c.1-43952T>C (p.=)
5g.37020626T>GCA359487299NIPBLc.5178T>G (p.Phe1726Leu)
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)
c.1-43952T>G (p.=)
5g.37020627C>ACA359487305NIPBLc.5179C>A (p.Leu1727Ile)
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)
c.1-43951C>A (p.=)
5g.37020627C>GCA359487308NIPBLc.5179C>G (p.Leu1727Val)
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)
c.1-43951C>G (p.=)
5g.37020627C>TCA359487311NIPBLc.5179C>T (p.Leu1727Phe)
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)
c.1-43951C>T (p.=)
5g.37020628T>ACA359487314NIPBLc.5180T>A (p.Leu1727His)
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)
c.1-43950T>A (p.=)
5g.37020628T>CCA359487324NIPBLc.5180T>C (p.Leu1727Pro)
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)
c.1-43950T>C (p.=)
5g.37020628T>GCA359487326NIPBLc.5180T>G (p.Leu1727Arg)
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)
c.1-43950T>G (p.=)
5g.37020629T>ACA443905088NIPBLc.5181T>A (p.Leu1727=)
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=)
c.1-43949T>A (p.=)
5g.37020629T>CCA443905089NIPBLc.5181T>C (p.Leu1727=)
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=)
c.1-43949T>C (p.=)
5g.37020629T>GCA443905090NIPBLc.5181T>G (p.Leu1727=)
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=)
c.1-43949T>G (p.=)
5g.37020630A>CCA443905092NIPBLc.5182A>C (p.Arg1728=)
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=)
c.1-43948A>C (p.=)
5g.37020630A>GCA3236707NIPBLc.5182A>G (p.Arg1728Gly)
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)
c.1-43948A>G (p.=)
dbSNP ExAC gnomAD
5g.37020630A>TCA359487334NIPBLc.5182A>T (p.Arg1728Ter)
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)
c.1-43948A>T (p.=)
5g.37020631G>ACA359487338NIPBLc.5183G>A (p.Arg1728Lys)
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)
c.1-43947G>A (p.=)

Number of alleles fetched