Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36976386delCA917452700NIPBLc.1479del (p.Glu494LysfsTer9)
n.1099del
c.1-88192del (p.=)
c.735del (p.Glu246LysfsTer9)
c.819del (p.Glu274LysfsTer9)
c.1479del (p.Glu494LysfsTer8)
dbSNP
5g.36976384A=CA1539570104NIPBLc.1477A= (p.Lys493=)
n.1097A=
c.1-88194A= (p.=)
c.733A= (p.Lys245=)
c.817A= (p.Lys273=)
5g.36976384A>CCA359487941NIPBLc.1477A>C (p.Lys493Gln)
n.1097A>C
c.1-88194A>C (p.=)
c.733A>C (p.Lys245Gln)
c.817A>C (p.Lys273Gln)
5g.36976384A>GCA271974NIPBLc.1477A>G (p.Lys493Glu)
n.1097A>G
c.1-88194A>G (p.=)
c.733A>G (p.Lys245Glu)
c.817A>G (p.Lys273Glu)
ClinVar dbSNP
5g.36976384A>TCA359487952NIPBLc.1477A>T (p.Lys493Ter)
n.1097A>T
c.1-88194A>T (p.=)
c.733A>T (p.Lys245Ter)
c.817A>T (p.Lys273Ter)
5g.36976385A>CCA359487960NIPBLc.1478A>C (p.Lys493Thr)
n.1098A>C
c.1-88193A>C (p.=)
c.734A>C (p.Lys245Thr)
c.818A>C (p.Lys273Thr)
5g.36976385A>GCA359487961NIPBLc.1478A>G (p.Lys493Arg)
n.1098A>G
c.1-88193A>G (p.=)
c.734A>G (p.Lys245Arg)
c.818A>G (p.Lys273Arg)
5g.36976385A>TCA359487958NIPBLc.1478A>T (p.Lys493Ile)
n.1098A>T
c.1-88193A>T (p.=)
c.734A>T (p.Lys245Ile)
c.818A>T (p.Lys273Ile)
5g.36976386A>CCA359487967NIPBLc.1479A>C (p.Lys493Asn)
n.1099A>C
c.1-88192A>C (p.=)
c.735A>C (p.Lys245Asn)
c.819A>C (p.Lys273Asn)
5g.36976386A>GCA444095092NIPBLc.1479A>G (p.Lys493=)
n.1099A>G
c.1-88192A>G (p.=)
c.735A>G (p.Lys245=)
c.819A>G (p.Lys273=)
5g.36976386A>TCA359487976NIPBLc.1479A>T (p.Lys493Asn)
n.1099A>T
c.1-88192A>T (p.=)
c.735A>T (p.Lys245Asn)
c.819A>T (p.Lys273Asn)
5g.36976387G>ACA359487987NIPBLc.1480G>A (p.Glu494Lys)
n.1100G>A
c.1-88191G>A (p.=)
c.736G>A (p.Glu246Lys)
c.820G>A (p.Glu274Lys)
5g.36976387G>CCA359488001NIPBLc.1480G>C (p.Glu494Gln)
n.1100G>C
c.1-88191G>C (p.=)
c.736G>C (p.Glu246Gln)
c.820G>C (p.Glu274Gln)
5g.36976387G>TCA359488005NIPBLc.1480G>T (p.Glu494Ter)
n.1100G>T
c.1-88191G>T (p.=)
c.736G>T (p.Glu246Ter)
c.820G>T (p.Glu274Ter)
5g.36976388A>CCA359488010NIPBLc.1481A>C (p.Glu494Ala)
n.1101A>C
c.1-88190A>C (p.=)
c.737A>C (p.Glu246Ala)
c.821A>C (p.Glu274Ala)
5g.36976388A>GCA359488013NIPBLc.1481A>G (p.Glu494Gly)
n.1101A>G
c.1-88190A>G (p.=)
c.737A>G (p.Glu246Gly)
c.821A>G (p.Glu274Gly)
5g.36976388A>TCA359488014NIPBLc.1481A>T (p.Glu494Val)
n.1101A>T
c.1-88190A>T (p.=)
c.737A>T (p.Glu246Val)
c.821A>T (p.Glu274Val)
5g.36976389A>CCA359488018NIPBLc.1482A>C (p.Glu494Asp)
n.1102A>C
c.1-88189A>C (p.=)
c.738A>C (p.Glu246Asp)
c.822A>C (p.Glu274Asp)
5g.36976389A>GCA444095105NIPBLc.1482A>G (p.Glu494=)
n.1102A>G
c.1-88189A>G (p.=)
c.738A>G (p.Glu246=)
c.822A>G (p.Glu274=)
5g.36976389A>TCA359488021NIPBLc.1482A>T (p.Glu494Asp)
n.1102A>T
c.1-88189A>T (p.=)
c.738A>T (p.Glu246Asp)
c.822A>T (p.Glu274Asp)
5g.36976390G>ACA359488030NIPBLc.1483G>A (p.Val495Ile)
n.1103G>A
c.1-88188G>A (p.=)
c.739G>A (p.Val247Ile)
c.823G>A (p.Val275Ile)
5g.36976390G>CCA359488045NIPBLc.1483G>C (p.Val495Leu)
n.1103G>C
c.1-88188G>C (p.=)
c.739G>C (p.Val247Leu)
c.823G>C (p.Val275Leu)
5g.36976390G>TCA359488050NIPBLc.1483G>T (p.Val495Phe)
n.1103G>T
c.1-88188G>T (p.=)
c.739G>T (p.Val247Phe)
c.823G>T (p.Val275Phe)
5g.36976391T>ACA359488060NIPBLc.1484T>A (p.Val495Asp)
n.1104T>A
c.1-88187T>A (p.=)
c.740T>A (p.Val247Asp)
c.824T>A (p.Val275Asp)
5g.36976391T>CCA359488051NIPBLc.1484T>C (p.Val495Ala)
n.1104T>C
c.1-88187T>C (p.=)
c.740T>C (p.Val247Ala)
c.824T>C (p.Val275Ala)
5g.36976391T>GCA359488052NIPBLc.1484T>G (p.Val495Gly)
n.1104T>G
c.1-88187T>G (p.=)
c.740T>G (p.Val247Gly)
c.824T>G (p.Val275Gly)
5g.36976392T>ACA444095111NIPBLc.1485T>A (p.Val495=)
n.1105T>A
c.1-88186T>A (p.=)
c.741T>A (p.Val247=)
c.825T>A (p.Val275=)
5g.36976392T>CCA444095113NIPBLc.1485T>C (p.Val495=)
n.1105T>C
c.1-88186T>C (p.=)
c.741T>C (p.Val247=)
c.825T>C (p.Val275=)
5g.36976392T>GCA444095112NIPBLc.1485T>G (p.Val495=)
n.1105T>G
c.1-88186T>G (p.=)
c.741T>G (p.Val247=)
c.825T>G (p.Val275=)
5g.36976393C>ACA359488067NIPBLc.1486C>A (p.Gln496Lys)
n.1106C>A
c.1-88185C>A (p.=)
c.742C>A (p.Gln248Lys)
c.826C>A (p.Gln276Lys)
5g.36976393C>GCA359488073NIPBLc.1486C>G (p.Gln496Glu)
n.1106C>G
c.1-88185C>G (p.=)
c.742C>G (p.Gln248Glu)
c.826C>G (p.Gln276Glu)
5g.36976393C>TCA359488079NIPBLc.1486C>T (p.Gln496Ter)
n.1106C>T
c.1-88185C>T (p.=)
c.742C>T (p.Gln248Ter)
c.826C>T (p.Gln276Ter)
COSMIC COSMIC
5g.36976394A>CCA359488080NIPBLc.1487A>C (p.Gln496Pro)
n.1107A>C
c.1-88184A>C (p.=)
c.743A>C (p.Gln248Pro)
c.827A>C (p.Gln276Pro)
5g.36976394A>GCA359488081NIPBLc.1487A>G (p.Gln496Arg)
n.1107A>G
c.1-88184A>G (p.=)
c.743A>G (p.Gln248Arg)
c.827A>G (p.Gln276Arg)
5g.36976394A>TCA359488085NIPBLc.1487A>T (p.Gln496Leu)
n.1107A>T
c.1-88184A>T (p.=)
c.743A>T (p.Gln248Leu)
c.827A>T (p.Gln276Leu)
5g.36976395A=CA1539570110NIPBLc.1488A= (p.Gln496=)
n.1108A=
c.1-88183A= (p.=)
c.744A= (p.Gln248=)
c.828A= (p.Gln276=)
5g.36976395A>CCA359488100NIPBLc.1488A>C (p.Gln496His)
n.1108A>C
c.1-88183A>C (p.=)
c.744A>C (p.Gln248His)
c.828A>C (p.Gln276His)
5g.36976395A>GCA3236025NIPBLc.1488A>G (p.Gln496=)
n.1108A>G
c.1-88183A>G (p.=)
c.744A>G (p.Gln248=)
c.828A>G (p.Gln276=)
dbSNP ExAC gnomAD
5g.36976395A>TCA359488107NIPBLc.1488A>T (p.Gln496His)
n.1108A>T
c.1-88183A>T (p.=)
c.744A>T (p.Gln248His)
c.828A>T (p.Gln276His)
5g.36976396G>ACA359488109NIPBLc.1489G>A (p.Asp497Asn)
n.1109G>A
c.1-88182G>A (p.=)
c.745G>A (p.Asp249Asn)
c.829G>A (p.Asp277Asn)
5g.36976396G>CCA359488111NIPBLc.1489G>C (p.Asp497His)
n.1109G>C
c.1-88182G>C (p.=)
c.745G>C (p.Asp249His)
c.829G>C (p.Asp277His)
5g.36976396G>TCA359488118NIPBLc.1489G>T (p.Asp497Tyr)
n.1109G>T
c.1-88182G>T (p.=)
c.745G>T (p.Asp249Tyr)
c.829G>T (p.Asp277Tyr)
5g.36976397A>CCA359488125NIPBLc.1490A>C (p.Asp497Ala)
n.1110A>C
c.1-88181A>C (p.=)
c.746A>C (p.Asp249Ala)
c.830A>C (p.Asp277Ala)
5g.36976397A>GCA359488126NIPBLc.1490A>G (p.Asp497Gly)
n.1110A>G
c.1-88181A>G (p.=)
c.746A>G (p.Asp249Gly)
c.830A>G (p.Asp277Gly)
5g.36976397A>TCA359488122NIPBLc.1490A>T (p.Asp497Val)
n.1110A>T
c.1-88181A>T (p.=)
c.746A>T (p.Asp249Val)
c.830A>T (p.Asp277Val)
5g.36976398T>ACA359488130NIPBLc.1491T>A (p.Asp497Glu)
n.1111T>A
c.1-88180T>A (p.=)
c.747T>A (p.Asp249Glu)
c.831T>A (p.Asp277Glu)
5g.36976398T>CCA444095131NIPBLc.1491T>C (p.Asp497=)
n.1111T>C
c.1-88180T>C (p.=)
c.747T>C (p.Asp249=)
c.831T>C (p.Asp277=)
5g.36976398T>GCA359488132NIPBLc.1491T>G (p.Asp497Glu)
n.1111T>G
c.1-88180T>G (p.=)
c.747T>G (p.Asp249Glu)
c.831T>G (p.Asp277Glu)
5g.36976399A>CCA359488137NIPBLc.1492A>C (p.Lys498Gln)
n.1112A>C
c.1-88179A>C (p.=)
c.748A>C (p.Lys250Gln)
c.832A>C (p.Lys278Gln)
5g.36976399A>GCA359488150NIPBLc.1492A>G (p.Lys498Glu)
n.1112A>G
c.1-88179A>G (p.=)
c.748A>G (p.Lys250Glu)
c.832A>G (p.Lys278Glu)

Number of alleles fetched