Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.36864943_36864953delinsAAAGGAGGATCCA2404070846NCF4,NCF4-AS1c.142_152delinsAAAGGAGGATC (p.Lys48=)
c.-168_-158delinsAAAGGAGGATC (n.-168_-158delinsAAAGGAGGATC)
n.447_457delinsAAAGGAGGATC
c.316_326delinsAAAGGAGGATC (p.Lys106=)
c.286_296delinsAAAGGAGGATC (p.Lys96=)
n.351+5140_351+5150delinsGATCCTCCTTT
22g.36864944A>CCA411378857NCF4,NCF4-AS1c.143A>C (p.Lys48Thr)
c.-167A>C (n.-167A>C)
n.448A>C
c.317A>C (p.Lys106Thr)
c.287A>C (p.Lys96Thr)
n.351+5149T>G
22g.36864944A>GCA411378856NCF4,NCF4-AS1c.143A>G (p.Lys48Arg)
c.-167A>G (n.-167A>G)
n.448A>G
c.317A>G (p.Lys106Arg)
c.287A>G (p.Lys96Arg)
n.351+5149T>C
22g.36864944A>TCA411378854NCF4,NCF4-AS1c.143A>T (p.Lys48Ile)
c.-167A>T (n.-167A>T)
n.448A>T
c.317A>T (p.Lys106Ile)
c.287A>T (p.Lys96Ile)
n.351+5149T>A
22g.36864944_36864953delCA10575546NCF4,NCF4-AS1c.143_152del (p.Lys48ThrfsTer?)
c.-167_-158del (n.-167_-158del)
n.448_457del
c.317_326del (p.Lys106ThrfsTer?)
c.287_296del (p.Lys96ThrfsTer?)
n.351+5140_351+5149del
 ClinVar dbSNP
22g.36864944_36864953dupCA356988NCF4,NCF4-AS1c.143_152dup (p.Lys52ArgfsTer?)
c.-167_-158dup (n.-167_-158dup)
n.448_457dup
c.317_326dup (p.Lys110ArgfsTer?)
c.287_296dup (p.Lys100ArgfsTer?)
n.351+5140_351+5149dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36864945A>CCA411378859NCF4,NCF4-AS1c.144A>C (p.Lys48Asn)
c.-166A>C (n.-166A>C)
n.449A>C
c.318A>C (p.Lys106Asn)
c.288A>C (p.Lys96Asn)
n.351+5148T>G
22g.36864945A>GCA514363119NCF4,NCF4-AS1c.144A>G (p.Lys48=)
c.-166A>G (n.-166A>G)
n.449A>G
c.318A>G (p.Lys106=)
c.288A>G (p.Lys96=)
n.351+5148T>C
22g.36864945A>TCA411378860NCF4,NCF4-AS1c.144A>T (p.Lys48Asn)
c.-166A>T (n.-166A>T)
n.449A>T
c.318A>T (p.Lys106Asn)
c.288A>T (p.Lys96Asn)
n.351+5148T>A
22g.36864946G>ACA10212875NCF4,NCF4-AS1c.145G>A (p.Gly49Arg)
c.-165G>A (n.-165G>A)
n.450G>A
c.319G>A (p.Gly107Arg)
c.289G>A (p.Gly97Arg)
n.351+5147C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36864946G>CCA411378865NCF4,NCF4-AS1c.145G>C (p.Gly49Arg)
c.-165G>C (n.-165G>C)
n.450G>C
c.319G>C (p.Gly107Arg)
c.289G>C (p.Gly97Arg)
n.351+5147C>G
22g.36864946G=CA2404070847NCF4,NCF4-AS1c.145G= (p.Gly49=)
c.-165G= (n.-165G=)
n.450G=
c.319G= (p.Gly107=)
c.289G= (p.Gly97=)
n.351+5147C=
22g.36864946G>TCA411378866NCF4,NCF4-AS1c.145G>T (p.Gly49Ter)
c.-165G>T (n.-165G>T)
n.450G>T
c.319G>T (p.Gly107Ter)
c.289G>T (p.Gly97Ter)
n.351+5147C>A
22g.36864947G>ACA411378877NCF4,NCF4-AS1c.146G>A (p.Gly49Glu)
c.-164G>A (n.-164G>A)
n.451G>A
c.320G>A (p.Gly107Glu)
c.290G>A (p.Gly97Glu)
n.351+5146C>T
 gnomAD v4
22g.36864947G>CCA411378870NCF4,NCF4-AS1c.146G>C (p.Gly49Ala)
c.-164G>C (n.-164G>C)
n.451G>C
c.320G>C (p.Gly107Ala)
c.290G>C (p.Gly97Ala)
n.351+5146C>G
 dbSNP gnomAD v2 gnomAD v4
22g.36864947G=CA2404070848NCF4,NCF4-AS1c.146G= (p.Gly49=)
c.-164G= (n.-164G=)
n.451G=
c.320G= (p.Gly107=)
c.290G= (p.Gly97=)
n.351+5146C=
22g.36864947G>TCA411378871NCF4,NCF4-AS1c.146G>T (p.Gly49Val)
c.-164G>T (n.-164G>T)
n.451G>T
c.320G>T (p.Gly107Val)
c.290G>T (p.Gly97Val)
n.351+5146C>A
22g.36864948A>CCA514363140NCF4,NCF4-AS1c.147A>C (p.Gly49=)
c.-163A>C (n.-163A>C)
n.452A>C
c.321A>C (p.Gly107=)
c.291A>C (p.Gly97=)
n.351+5145T>G
22g.36864948A>GCA514363143NCF4,NCF4-AS1c.147A>G (p.Gly49=)
c.-163A>G (n.-163A>G)
n.452A>G
c.321A>G (p.Gly107=)
c.291A>G (p.Gly97=)
n.351+5145T>C
22g.36864948A>TCA514363145NCF4,NCF4-AS1c.147A>T (p.Gly49=)
c.-163A>T (n.-163A>T)
n.452A>T
c.321A>T (p.Gly107=)
c.291A>T (p.Gly97=)
n.351+5145T>A
22g.36864949G>ACA411378881NCF4,NCF4-AS1c.148G>A (p.Gly50Arg)
c.-162G>A (n.-162G>A)
n.453G>A
c.322G>A (p.Gly108Arg)
c.292G>A (p.Gly98Arg)
n.351+5144C>T
22g.36864949G>CCA411378885NCF4,NCF4-AS1c.148G>C (p.Gly50Arg)
c.-162G>C (n.-162G>C)
n.453G>C
c.322G>C (p.Gly108Arg)
c.292G>C (p.Gly98Arg)
n.351+5144C>G
 COSMIC COSMIC
22g.36864949G>TCA411378888NCF4,NCF4-AS1c.148G>T (p.Gly50Ter)
c.-162G>T (n.-162G>T)
n.453G>T
c.322G>T (p.Gly108Ter)
c.292G>T (p.Gly98Ter)
n.351+5144C>A
22g.36864950G>ACA411378891NCF4,NCF4-AS1c.149G>A (p.Gly50Glu)
c.-161G>A (n.-161G>A)
n.454G>A
c.323G>A (p.Gly108Glu)
c.293G>A (p.Gly98Glu)
n.351+5143C>T
22g.36864950G>CCA411378893NCF4,NCF4-AS1c.149G>C (p.Gly50Ala)
c.-161G>C (n.-161G>C)
n.454G>C
c.323G>C (p.Gly108Ala)
c.293G>C (p.Gly98Ala)
n.351+5143C>G
22g.36864950G>TCA411378896NCF4,NCF4-AS1c.149G>T (p.Gly50Val)
c.-161G>T (n.-161G>T)
n.454G>T
c.323G>T (p.Gly108Val)
c.293G>T (p.Gly98Val)
n.351+5143C>A
22g.36864951A>CCA514363159NCF4,NCF4-AS1c.150A>C (p.Gly50=)
c.-160A>C (n.-160A>C)
n.455A>C
c.324A>C (p.Gly108=)
c.294A>C (p.Gly98=)
n.351+5142T>G
22g.36864951A>GCA514363165NCF4,NCF4-AS1c.150A>G (p.Gly50=)
c.-160A>G (n.-160A>G)
n.455A>G
c.324A>G (p.Gly108=)
c.294A>G (p.Gly98=)
n.351+5142T>C
 COSMIC COSMIC
22g.36864951A>TCA514363161NCF4,NCF4-AS1c.150A>T (p.Gly50=)
c.-160A>T (n.-160A>T)
n.455A>T
c.324A>T (p.Gly108=)
c.294A>T (p.Gly98=)
n.351+5142T>A
22g.36864952T>ACA411378901NCF4,NCF4-AS1c.151T>A (p.Ser51Thr)
c.-159T>A (n.-159T>A)
n.456T>A
c.325T>A (p.Ser109Thr)
c.295T>A (p.Ser99Thr)
n.351+5141A>T
22g.36864952T>CCA411378903NCF4,NCF4-AS1c.151T>C (p.Ser51Pro)
c.-159T>C (n.-159T>C)
n.456T>C
c.325T>C (p.Ser109Pro)
c.295T>C (p.Ser99Pro)
n.351+5141A>G
 dbSNP
22g.36864952T>GCA411378905NCF4,NCF4-AS1c.151T>G (p.Ser51Ala)
c.-159T>G (n.-159T>G)
n.456T>G
c.325T>G (p.Ser109Ala)
c.295T>G (p.Ser99Ala)
n.351+5141A>C
22g.36864952T=CA2404070850NCF4,NCF4-AS1c.151T= (p.Ser51=)
c.-159T= (n.-159T=)
n.456T=
c.325T= (p.Ser109=)
c.295T= (p.Ser99=)
n.351+5141A=
22g.36864952_36864959delinsTCCAAGTACA2404070849NCF4,NCF4-AS1c.151_158delinsTCCAAGTA (p.Ser51=)
c.-159_-152delinsTCCAAGTA (n.-159_-152delinsTCCAAGTA)
n.456_463delinsTCCAAGTA
c.325_332delinsTCCAAGTA (p.Ser109=)
c.295_302delinsTCCAAGTA (p.Ser99=)
n.351+5134_351+5141delinsTACTTGGA
22g.36864953C>ACA411378909NCF4,NCF4-AS1c.152C>A (p.Ser51Tyr)
c.-158C>A (n.-158C>A)
n.457C>A
c.326C>A (p.Ser109Tyr)
c.296C>A (p.Ser99Tyr)
n.351+5140G>T
 gnomAD v4
22g.36864953C>GCA411378912NCF4,NCF4-AS1c.152C>G (p.Ser51Cys)
c.-158C>G (n.-158C>G)
n.457C>G
c.326C>G (p.Ser109Cys)
c.296C>G (p.Ser99Cys)
n.351+5140G>C
22g.36864953C>TCA411378914NCF4,NCF4-AS1c.152C>T (p.Ser51Phe)
c.-158C>T (n.-158C>T)
n.457C>T
c.326C>T (p.Ser109Phe)
c.296C>T (p.Ser99Phe)
n.351+5140G>A
22g.36864955_36864961delCA639393111NCF4,NCF4-AS1c.154_160del (p.Lys52SerfsTer?)
c.-156_-150del (n.-156_-150del)
n.459_465del
c.328_334del (p.Lys110SerfsTer?)
c.298_304del (p.Lys100SerfsTer?)
n.351+5134_351+5140del
 dbSNP gnomAD v2 gnomAD v4
22g.36864954C>ACA514363170NCF4,NCF4-AS1c.153C>A (p.Ser51=)
c.-157C>A (n.-157C>A)
n.458C>A
c.327C>A (p.Ser109=)
c.297C>A (p.Ser99=)
n.351+5139G>T
22g.36864954C>GCA514363173NCF4,NCF4-AS1c.153C>G (p.Ser51=)
c.-157C>G (n.-157C>G)
n.458C>G
c.327C>G (p.Ser109=)
c.297C>G (p.Ser99=)
n.351+5139G>C
22g.36864954C>TCA514363175NCF4,NCF4-AS1c.153C>T (p.Ser51=)
c.-157C>T (n.-157C>T)
n.458C>T
c.327C>T (p.Ser109=)
c.297C>T (p.Ser99=)
n.351+5139G>A
22g.36864955A=CA2404070851NCF4,NCF4-AS1c.154A= (p.Lys52=)
c.-156A= (n.-156A=)
n.459A=
c.328A= (p.Lys110=)
c.298A= (p.Lys100=)
n.351+5138T=
22g.36864955A>CCA411378918NCF4,NCF4-AS1c.154A>C (p.Lys52Gln)
c.-156A>C (n.-156A>C)
n.459A>C
c.328A>C (p.Lys110Gln)
c.298A>C (p.Lys100Gln)
n.351+5138T>G
22g.36864955A>GCA411378927NCF4,NCF4-AS1c.154A>G (p.Lys52Glu)
c.-156A>G (n.-156A>G)
n.459A>G
c.328A>G (p.Lys110Glu)
c.298A>G (p.Lys100Glu)
n.351+5138T>C
 dbSNP gnomAD v3 gnomAD v4
22g.36864955A>TCA411378920NCF4,NCF4-AS1c.154A>T (p.Lys52Ter)
c.-156A>T (n.-156A>T)
n.459A>T
c.328A>T (p.Lys110Ter)
c.298A>T (p.Lys100Ter)
n.351+5138T>A
22g.36864956A>CCA411378929NCF4,NCF4-AS1c.155A>C (p.Lys52Thr)
c.-155A>C (n.-155A>C)
n.460A>C
c.329A>C (p.Lys110Thr)
c.299A>C (p.Lys100Thr)
n.351+5137T>G
22g.36864956A>GCA411378931NCF4,NCF4-AS1c.155A>G (p.Lys52Arg)
c.-155A>G (n.-155A>G)
n.460A>G
c.329A>G (p.Lys110Arg)
c.299A>G (p.Lys100Arg)
n.351+5137T>C
22g.36864956A>TCA411378933NCF4,NCF4-AS1c.155A>T (p.Lys52Met)
c.-155A>T (n.-155A>T)
n.460A>T
c.329A>T (p.Lys110Met)
c.299A>T (p.Lys100Met)
n.351+5137T>A
22g.36864957G>ACA514363193NCF4,NCF4-AS1c.156G>A (p.Lys52=)
c.-154G>A (n.-154G>A)
n.461G>A
c.330G>A (p.Lys110=)
c.300G>A (p.Lys100=)
n.351+5136C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.36864957G>CCA411378937NCF4,NCF4-AS1c.156G>C (p.Lys52Asn)
c.-154G>C (n.-154G>C)
n.461G>C
c.330G>C (p.Lys110Asn)
c.300G>C (p.Lys100Asn)
n.351+5136C>G

Number of alleles fetched