Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.36864916_36864931delinsTAGGTTTTCGTCATCGCA2404070832NCF4,NCF4-AS1c.118-3_130delinsTAGGTTTTCGTCATCG
c.-192-3_-180delinsTAGGTTTTCGTCATCG
n.423-3_435delinsTAGGTTTTCGTCATCG
c.292-3_304delinsTAGGTTTTCGTCATCG
c.262-3_274delinsTAGGTTTTCGTCATCG
n.351+5162_351+5177delinsCGATGACGAAAACCTA
22g.36864921_36864935delCA639393110NCF4,NCF4-AS1c.120_134del
c.-190_-176del
n.425_439del
c.294_308del
c.264_278del
n.351+5162_351+5176del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.36864926T>ACA411378651NCF4,NCF4-AS1c.125T>A (p.Val42Asp)
c.-185T>A (n.-185T>A)
n.430T>A
c.299T>A (p.Val100Asp)
c.269T>A (p.Val90Asp)
n.351+5167A>T
22g.36864926T>CCA411378659NCF4,NCF4-AS1c.125T>C (p.Val42Ala)
c.-185T>C (n.-185T>C)
n.430T>C
c.299T>C (p.Val100Ala)
c.269T>C (p.Val90Ala)
n.351+5167A>G
22g.36864926T>GCA411378663NCF4,NCF4-AS1c.125T>G (p.Val42Gly)
c.-185T>G (n.-185T>G)
n.430T>G
c.299T>G (p.Val100Gly)
c.269T>G (p.Val90Gly)
n.351+5167A>C
22g.36864927C>ACA514362968NCF4,NCF4-AS1c.126C>A (p.Val42=)
c.-184C>A (n.-184C>A)
n.431C>A
c.300C>A (p.Val100=)
c.270C>A (p.Val90=)
n.351+5166G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.36864927C=CA2404070838NCF4,NCF4-AS1c.126C= (p.Val42=)
c.-184C= (n.-184C=)
n.431C=
c.300C= (p.Val100=)
c.270C= (p.Val90=)
n.351+5166G=
22g.36864927C>GCA514362977NCF4,NCF4-AS1c.126C>G (p.Val42=)
c.-184C>G (n.-184C>G)
n.431C>G
c.300C>G (p.Val100=)
c.270C>G (p.Val90=)
n.351+5166G>C
22g.36864927C>TCA514362980NCF4,NCF4-AS1c.126C>T (p.Val42=)
c.-184C>T (n.-184C>T)
n.431C>T
c.300C>T (p.Val100=)
c.270C>T (p.Val90=)
n.351+5166G>A
22g.36864928A=CA2404070839NCF4,NCF4-AS1c.127A= (p.Ile43=)
c.-183A= (n.-183A=)
n.432A=
c.301A= (p.Ile101=)
c.271A= (p.Ile91=)
n.351+5165T=
22g.36864928A>CCA411378665NCF4,NCF4-AS1c.127A>C (p.Ile43Leu)
c.-183A>C (n.-183A>C)
n.432A>C
c.301A>C (p.Ile101Leu)
c.271A>C (p.Ile91Leu)
n.351+5165T>G
22g.36864928A>GCA10212872NCF4,NCF4-AS1c.127A>G (p.Ile43Val)
c.-183A>G (n.-183A>G)
n.432A>G
c.301A>G (p.Ile101Val)
c.271A>G (p.Ile91Val)
n.351+5165T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.36864928A>TCA411378670NCF4,NCF4-AS1c.127A>T (p.Ile43Phe)
c.-183A>T (n.-183A>T)
n.432A>T
c.301A>T (p.Ile101Phe)
c.271A>T (p.Ile91Phe)
n.351+5165T>A
22g.36864929T>ACA411378672NCF4,NCF4-AS1c.128T>A (p.Ile43Asn)
c.-182T>A (n.-182T>A)
n.433T>A
c.302T>A (p.Ile101Asn)
c.272T>A (p.Ile91Asn)
n.351+5164A>T
22g.36864929T>CCA411378677NCF4,NCF4-AS1c.128T>C (p.Ile43Thr)
c.-182T>C (n.-182T>C)
n.433T>C
c.302T>C (p.Ile101Thr)
c.272T>C (p.Ile91Thr)
n.351+5164A>G
22g.36864929T>GCA411378671NCF4,NCF4-AS1c.128T>G (p.Ile43Ser)
c.-182T>G (n.-182T>G)
n.433T>G
c.302T>G (p.Ile101Ser)
c.272T>G (p.Ile91Ser)
n.351+5164A>C
22g.36864930C>ACA514362995NCF4,NCF4-AS1c.129C>A (p.Ile43=)
c.-181C>A (n.-181C>A)
n.434C>A
c.303C>A (p.Ile101=)
c.273C>A (p.Ile91=)
n.351+5163G>T
 ClinVar dbSNP
22g.36864930C=CA2404070840NCF4,NCF4-AS1c.129C= (p.Ile43=)
c.-181C= (n.-181C=)
n.434C=
c.303C= (p.Ile101=)
c.273C= (p.Ile91=)
n.351+5163G=
22g.36864930C>GCA411378699NCF4,NCF4-AS1c.129C>G (p.Ile43Met)
c.-181C>G (n.-181C>G)
n.434C>G
c.303C>G (p.Ile101Met)
c.273C>G (p.Ile91Met)
n.351+5163G>C
22g.36864930C>TCA10212873NCF4,NCF4-AS1c.129C>T (p.Ile43=)
c.-181C>T (n.-181C>T)
n.434C>T
c.303C>T (p.Ile101=)
c.273C>T (p.Ile91=)
n.351+5163G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.36864931G>ACA411378733NCF4,NCF4-AS1c.130G>A (p.Glu44Lys)
c.-180G>A (n.-180G>A)
n.435G>A
c.304G>A (p.Glu102Lys)
c.274G>A (p.Glu92Lys)
n.351+5162C>T
 dbSNP gnomAD v4
22g.36864931G>CCA323985614NCF4,NCF4-AS1c.130G>C (p.Glu44Gln)
c.-180G>C (n.-180G>C)
n.435G>C
c.304G>C (p.Glu102Gln)
c.274G>C (p.Glu92Gln)
n.351+5162C>G
 dbSNP
22g.36864931G=CA2404070841NCF4,NCF4-AS1c.130G= (p.Glu44=)
c.-180G= (n.-180G=)
n.435G=
c.304G= (p.Glu102=)
c.274G= (p.Glu92=)
n.351+5162C=
22g.36864931G>TCA411378736NCF4,NCF4-AS1c.130G>T (p.Glu44Ter)
c.-180G>T (n.-180G>T)
n.435G>T
c.304G>T (p.Glu102Ter)
c.274G>T (p.Glu92Ter)
n.351+5162C>A
22g.36864932A>CCA411378748NCF4,NCF4-AS1c.131A>C (p.Glu44Ala)
c.-179A>C (n.-179A>C)
n.436A>C
c.305A>C (p.Glu102Ala)
c.275A>C (p.Glu92Ala)
n.351+5161T>G
 gnomAD v4
22g.36864932A>GCA411378740NCF4,NCF4-AS1c.131A>G (p.Glu44Gly)
c.-179A>G (n.-179A>G)
n.436A>G
c.305A>G (p.Glu102Gly)
c.275A>G (p.Glu92Gly)
n.351+5161T>C
22g.36864932A>TCA411378744NCF4,NCF4-AS1c.131A>T (p.Glu44Val)
c.-179A>T (n.-179A>T)
n.436A>T
c.305A>T (p.Glu102Val)
c.275A>T (p.Glu92Val)
n.351+5161T>A
22g.36864933G>ACA514363009NCF4,NCF4-AS1c.132G>A (p.Glu44=)
c.-178G>A (n.-178G>A)
n.437G>A
c.306G>A (p.Glu102=)
c.276G>A (p.Glu92=)
n.351+5160C>T
 ClinVar dbSNP
22g.36864933G>CCA10212874NCF4,NCF4-AS1c.132G>C (p.Glu44Asp)
c.-178G>C (n.-178G>C)
n.437G>C
c.306G>C (p.Glu102Asp)
c.276G>C (p.Glu92Asp)
n.351+5160C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.36864933G=CA2404070842NCF4,NCF4-AS1c.132G= (p.Glu44=)
c.-178G= (n.-178G=)
n.437G=
c.306G= (p.Glu102=)
c.276G= (p.Glu92=)
n.351+5160C=
22g.36864933G>TCA411378756NCF4,NCF4-AS1c.132G>T (p.Glu44Asp)
c.-178G>T (n.-178G>T)
n.437G>T
c.306G>T (p.Glu102Asp)
c.276G>T (p.Glu92Asp)
n.351+5160C>A
22g.36864934G>ACA411378758NCF4,NCF4-AS1c.133G>A (p.Val45Met)
c.-177G>A (n.-177G>A)
n.438G>A
c.307G>A (p.Val103Met)
c.277G>A (p.Val93Met)
n.351+5159C>T
22g.36864934G>CCA411378759NCF4,NCF4-AS1c.133G>C (p.Val45Leu)
c.-177G>C (n.-177G>C)
n.438G>C
c.307G>C (p.Val103Leu)
c.277G>C (p.Val93Leu)
n.351+5159C>G
22g.36864934G>TCA411378762NCF4,NCF4-AS1c.133G>T (p.Val45Leu)
c.-177G>T (n.-177G>T)
n.438G>T
c.307G>T (p.Val103Leu)
c.277G>T (p.Val93Leu)
n.351+5159C>A
22g.36864935T>ACA411378763NCF4,NCF4-AS1c.134T>A (p.Val45Glu)
c.-176T>A (n.-176T>A)
n.439T>A
c.308T>A (p.Val103Glu)
c.278T>A (p.Val93Glu)
n.351+5158A>T
 gnomAD v4
22g.36864935T>CCA411378767NCF4,NCF4-AS1c.134T>C (p.Val45Ala)
c.-176T>C (n.-176T>C)
n.439T>C
c.308T>C (p.Val103Ala)
c.278T>C (p.Val93Ala)
n.351+5158A>G
22g.36864935T>GCA411378765NCF4,NCF4-AS1c.134T>G (p.Val45Gly)
c.-176T>G (n.-176T>G)
n.439T>G
c.308T>G (p.Val103Gly)
c.278T>G (p.Val93Gly)
n.351+5158A>C
22g.36864936G>ACA514363056NCF4,NCF4-AS1c.135G>A (p.Val45=)
c.-175G>A (n.-175G>A)
n.440G>A
c.309G>A (p.Val103=)
c.279G>A (p.Val93=)
n.351+5157C>T
 dbSNP gnomAD v2 gnomAD v4
22g.36864936G>CCA514363061NCF4,NCF4-AS1c.135G>C (p.Val45=)
c.-175G>C (n.-175G>C)
n.440G>C
c.309G>C (p.Val103=)
c.279G>C (p.Val93=)
n.351+5157C>G
22g.36864936G=CA2404070843NCF4,NCF4-AS1c.135G= (p.Val45=)
c.-175G= (n.-175G=)
n.440G=
c.309G= (p.Val103=)
c.279G= (p.Val93=)
n.351+5157C=
22g.36864936G>TCA514363063NCF4,NCF4-AS1c.135G>T (p.Val45=)
c.-175G>T (n.-175G>T)
n.440G>T
c.309G>T (p.Val103=)
c.279G>T (p.Val93=)
n.351+5157C>A
22g.36864937A>CCA411378772NCF4,NCF4-AS1c.136A>C (p.Lys46Gln)
c.-174A>C (n.-174A>C)
n.441A>C
c.310A>C (p.Lys104Gln)
c.280A>C (p.Lys94Gln)
n.351+5156T>G
22g.36864937A>GCA411378784NCF4,NCF4-AS1c.136A>G (p.Lys46Glu)
c.-174A>G (n.-174A>G)
n.441A>G
c.310A>G (p.Lys104Glu)
c.280A>G (p.Lys94Glu)
n.351+5156T>C
22g.36864937A>TCA411378787NCF4,NCF4-AS1c.136A>T (p.Lys46Ter)
c.-174A>T (n.-174A>T)
n.441A>T
c.310A>T (p.Lys104Ter)
c.280A>T (p.Lys94Ter)
n.351+5156T>A
22g.36864938A>CCA411378792NCF4,NCF4-AS1c.137A>C (p.Lys46Thr)
c.-173A>C (n.-173A>C)
n.442A>C
c.311A>C (p.Lys104Thr)
c.281A>C (p.Lys94Thr)
n.351+5155T>G
22g.36864938A>GCA411378794NCF4,NCF4-AS1c.137A>G (p.Lys46Arg)
c.-173A>G (n.-173A>G)
n.442A>G
c.311A>G (p.Lys104Arg)
c.281A>G (p.Lys94Arg)
n.351+5155T>C
22g.36864938A>TCA411378796NCF4,NCF4-AS1c.137A>T (p.Lys46Met)
c.-173A>T (n.-173A>T)
n.442A>T
c.311A>T (p.Lys104Met)
c.281A>T (p.Lys94Met)
n.351+5155T>A
22g.36864939G>ACA514363074NCF4,NCF4-AS1c.138G>A (p.Lys46=)
c.-172G>A (n.-172G>A)
n.443G>A
c.312G>A (p.Lys104=)
c.282G>A (p.Lys94=)
n.351+5154C>T
22g.36864939G>CCA411378804NCF4,NCF4-AS1c.138G>C (p.Lys46Asn)
c.-172G>C (n.-172G>C)
n.443G>C
c.312G>C (p.Lys104Asn)
c.282G>C (p.Lys94Asn)
n.351+5154C>G
 gnomAD v4
22g.36864939G>TCA411378809NCF4,NCF4-AS1c.138G>T (p.Lys46Asn)
c.-172G>T (n.-172G>T)
n.443G>T
c.312G>T (p.Lys104Asn)
c.282G>T (p.Lys94Asn)
n.351+5154C>A
22g.36864940A>CCA411378813NCF4,NCF4-AS1c.139A>C (p.Thr47Pro)
c.-171A>C (n.-171A>C)
n.444A>C
c.313A>C (p.Thr105Pro)
c.283A>C (p.Thr95Pro)
n.351+5153T>G
22g.36864940A>GCA411378816NCF4,NCF4-AS1c.139A>G (p.Thr47Ala)
c.-171A>G (n.-171A>G)
n.444A>G
c.313A>G (p.Thr105Ala)
c.283A>G (p.Thr95Ala)
n.351+5153T>C
22g.36864940A>TCA411378825NCF4,NCF4-AS1c.139A>T (p.Thr47Ser)
c.-171A>T (n.-171A>T)
n.444A>T
c.313A>T (p.Thr105Ser)
c.283A>T (p.Thr95Ser)
n.351+5153T>A
22g.36864941C>ACA411378833NCF4,NCF4-AS1c.140C>A (p.Thr47Lys)
c.-170C>A (n.-170C>A)
n.445C>A
c.314C>A (p.Thr105Lys)
c.284C>A (p.Thr95Lys)
n.351+5152G>T
22g.36864941C>GCA411378832NCF4,NCF4-AS1c.140C>G (p.Thr47Arg)
c.-170C>G (n.-170C>G)
n.445C>G
c.314C>G (p.Thr105Arg)
c.284C>G (p.Thr95Arg)
n.351+5152G>C
22g.36864941C>TCA411378831NCF4,NCF4-AS1c.140C>T (p.Thr47Ile)
c.-170C>T (n.-170C>T)
n.445C>T
c.314C>T (p.Thr105Ile)
c.284C>T (p.Thr95Ile)
n.351+5152G>A
22g.36864942A=CA2404070844NCF4,NCF4-AS1c.141A= (p.Thr47=)
c.-169A= (n.-169A=)
n.446A=
c.315A= (p.Thr105=)
c.285A= (p.Thr95=)
n.351+5151T=
22g.36864942A>CCA514363087NCF4,NCF4-AS1c.141A>C (p.Thr47=)
c.-169A>C (n.-169A>C)
n.446A>C
c.315A>C (p.Thr105=)
c.285A>C (p.Thr95=)
n.351+5151T>G
22g.36864942A>GCA514363092NCF4,NCF4-AS1c.141A>G (p.Thr47=)
c.-169A>G (n.-169A>G)
n.446A>G
c.315A>G (p.Thr105=)
c.285A>G (p.Thr95=)
n.351+5151T>C
 dbSNP gnomAD v3 gnomAD v4
22g.36864942A>TCA514363093NCF4,NCF4-AS1c.141A>T (p.Thr47=)
c.-169A>T (n.-169A>T)
n.446A>T
c.315A>T (p.Thr105=)
c.285A>T (p.Thr95=)
n.351+5151T>A
22g.36864943A=CA2404070845NCF4,NCF4-AS1c.142A= (p.Lys48=)
c.-168A= (n.-168A=)
n.447A=
c.316A= (p.Lys106=)
c.286A= (p.Lys96=)
n.351+5150T=
22g.36864943A>CCA411378834NCF4,NCF4-AS1c.142A>C (p.Lys48Gln)
c.-168A>C (n.-168A>C)
n.447A>C
c.316A>C (p.Lys106Gln)
c.286A>C (p.Lys96Gln)
n.351+5150T>G
22g.36864943A>GCA411378838NCF4,NCF4-AS1c.142A>G (p.Lys48Glu)
c.-168A>G (n.-168A>G)
n.447A>G
c.316A>G (p.Lys106Glu)
c.286A>G (p.Lys96Glu)
n.351+5150T>C
22g.36864943A>TCA411378845NCF4,NCF4-AS1c.142A>T (p.Lys48Ter)
c.-168A>T (n.-168A>T)
n.447A>T
c.316A>T (p.Lys106Ter)
c.286A>T (p.Lys96Ter)
n.351+5150T>A
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
22g.36864957G=CA2404070852NCF4,NCF4-AS1c.156G= (p.Lys52=)
c.-154G= (n.-154G=)
n.461G=
c.330G= (p.Lys110=)
c.300G= (p.Lys100=)
n.351+5136C=
22g.36864957G>TCA411378938NCF4,NCF4-AS1c.156G>T (p.Lys52Asn)
c.-154G>T (n.-154G>T)
n.461G>T
c.330G>T (p.Lys110Asn)
c.300G>T (p.Lys100Asn)
n.351+5136C>A
22g.36864958T>ACA411378941NCF4,NCF4-AS1c.157T>A (p.Tyr53Asn)
c.-153T>A (n.-153T>A)
n.462T>A
c.331T>A (p.Tyr111Asn)
c.301T>A (p.Tyr101Asn)
n.351+5135A>T
22g.36864958T>CCA10212876NCF4,NCF4-AS1c.157T>C (p.Tyr53His)
c.-153T>C (n.-153T>C)
n.462T>C
c.331T>C (p.Tyr111His)
c.301T>C (p.Tyr101His)
n.351+5135A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36864958T>GCA411378946NCF4,NCF4-AS1c.157T>G (p.Tyr53Asp)
c.-153T>G (n.-153T>G)
n.462T>G
c.331T>G (p.Tyr111Asp)
c.301T>G (p.Tyr101Asp)
n.351+5135A>C
22g.36864958T=CA2404070853NCF4,NCF4-AS1c.157T= (p.Tyr53=)
c.-153T= (n.-153T=)
n.462T=
c.331T= (p.Tyr111=)
c.301T= (p.Tyr101=)
n.351+5135A=
22g.36864959A>CCA411378948NCF4,NCF4-AS1c.158A>C (p.Tyr53Ser)
c.-152A>C (n.-152A>C)
n.463A>C
c.332A>C (p.Tyr111Ser)
c.302A>C (p.Tyr101Ser)
n.351+5134T>G
22g.36864959A>GCA411378950NCF4,NCF4-AS1c.158A>G (p.Tyr53Cys)
c.-152A>G (n.-152A>G)
n.463A>G
c.332A>G (p.Tyr111Cys)
c.302A>G (p.Tyr101Cys)
n.351+5134T>C
22g.36864959A>TCA411378952NCF4,NCF4-AS1c.158A>T (p.Tyr53Phe)
c.-152A>T (n.-152A>T)
n.463A>T
c.332A>T (p.Tyr111Phe)
c.302A>T (p.Tyr101Phe)
n.351+5134T>A
22g.36864960C>ACA411378955NCF4,NCF4-AS1c.159C>A (p.Tyr53Ter)
c.-151C>A (n.-151C>A)
n.464C>A
c.333C>A (p.Tyr111Ter)
c.303C>A (p.Tyr101Ter)
n.351+5133G>T
22g.36864960C=CA2404070854NCF4,NCF4-AS1c.159C= (p.Tyr53=)
c.-151C= (n.-151C=)
n.464C=
c.333C= (p.Tyr111=)
c.303C= (p.Tyr101=)
n.351+5133G=
22g.36864960C>GCA411378957NCF4,NCF4-AS1c.159C>G (p.Tyr53Ter)
c.-151C>G (n.-151C>G)
n.464C>G
c.333C>G (p.Tyr111Ter)
c.303C>G (p.Tyr101Ter)
n.351+5133G>C
 gnomAD v4
22g.36864960C>TCA514363209NCF4,NCF4-AS1c.159C>T (p.Tyr53=)
c.-151C>T (n.-151C>T)
n.464C>T
c.333C>T (p.Tyr111=)
c.303C>T (p.Tyr101=)
n.351+5133G>A
 dbSNP gnomAD v2 gnomAD v4
22g.36864961C>ACA411378960NCF4,NCF4-AS1c.160C>A (p.Leu54Ile)
c.-150C>A (n.-150C>A)
n.465C>A
c.334C>A (p.Leu112Ile)
c.304C>A (p.Leu102Ile)
n.351+5132G>T
22g.36864961C=CA2404070855NCF4,NCF4-AS1c.160C= (p.Leu54=)
c.-150C= (n.-150C=)
n.465C=
c.334C= (p.Leu112=)
c.304C= (p.Leu102=)
n.351+5132G=
22g.36864961C>GCA411378967NCF4,NCF4-AS1c.160C>G (p.Leu54Val)
c.-150C>G (n.-150C>G)
n.465C>G
c.334C>G (p.Leu112Val)
c.304C>G (p.Leu102Val)
n.351+5132G>C
22g.36864961C>TCA411378962NCF4,NCF4-AS1c.160C>T (p.Leu54Phe)
c.-150C>T (n.-150C>T)
n.465C>T
c.334C>T (p.Leu112Phe)
c.304C>T (p.Leu102Phe)
n.351+5132G>A
 dbSNP gnomAD v2 gnomAD v4
22g.36864962T>ACA411378969NCF4,NCF4-AS1c.161T>A (p.Leu54His)
c.-149T>A (n.-149T>A)
n.466T>A
c.335T>A (p.Leu112His)
c.305T>A (p.Leu102His)
n.351+5131A>T
22g.36864962T>CCA411378972NCF4,NCF4-AS1c.161T>C (p.Leu54Pro)
c.-149T>C (n.-149T>C)
n.466T>C
c.335T>C (p.Leu112Pro)
c.305T>C (p.Leu102Pro)
n.351+5131A>G
22g.36864962T>GCA411378974NCF4,NCF4-AS1c.161T>G (p.Leu54Arg)
c.-149T>G (n.-149T>G)
n.466T>G
c.335T>G (p.Leu112Arg)
c.305T>G (p.Leu102Arg)
n.351+5131A>C
22g.36864963C>ACA10212877NCF4,NCF4-AS1c.162C>A (p.Leu54=)
c.-148C>A (n.-148C>A)
n.467C>A
c.336C>A (p.Leu112=)
c.306C>A (p.Leu102=)
n.351+5130G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.36864963C=CA2404070856NCF4,NCF4-AS1c.162C= (p.Leu54=)
c.-148C= (n.-148C=)
n.467C=
c.336C= (p.Leu112=)
c.306C= (p.Leu102=)
n.351+5130G=
22g.36864963C>GCA514363226NCF4,NCF4-AS1c.162C>G (p.Leu54=)
c.-148C>G (n.-148C>G)
n.467C>G
c.336C>G (p.Leu112=)
c.306C>G (p.Leu102=)
n.351+5130G>C
22g.36864963C>TCA514363223NCF4,NCF4-AS1c.162C>T (p.Leu54=)
c.-148C>T (n.-148C>T)
n.467C>T
c.336C>T (p.Leu112=)
c.306C>T (p.Leu102=)
n.351+5130G>A
 gnomAD v4
22g.36864964A>CCA411378978NCF4,NCF4-AS1c.163A>C (p.Ile55Leu)
c.-147A>C (n.-147A>C)
n.468A>C
c.337A>C (p.Ile113Leu)
c.307A>C (p.Ile103Leu)
n.351+5129T>G
 gnomAD v4
22g.36864964A>GCA411378981NCF4,NCF4-AS1c.163A>G (p.Ile55Val)
c.-147A>G (n.-147A>G)
n.468A>G
c.337A>G (p.Ile113Val)
c.307A>G (p.Ile103Val)
n.351+5129T>C
 COSMIC COSMIC
22g.36864964A>TCA411378983NCF4,NCF4-AS1c.163A>T (p.Ile55Phe)
c.-147A>T (n.-147A>T)
n.468A>T
c.337A>T (p.Ile113Phe)
c.307A>T (p.Ile103Phe)
n.351+5129T>A
22g.36864965T>ACA411378988NCF4,NCF4-AS1c.164T>A (p.Ile55Asn)
c.-146T>A (n.-146T>A)
n.469T>A
c.338T>A (p.Ile113Asn)
c.308T>A (p.Ile103Asn)
n.351+5128A>T
22g.36864965T>CCA323985668NCF4,NCF4-AS1c.164T>C (p.Ile55Thr)
c.-146T>C (n.-146T>C)
n.469T>C
c.338T>C (p.Ile113Thr)
c.308T>C (p.Ile103Thr)
n.351+5128A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.36864965T>GCA411378993NCF4,NCF4-AS1c.164T>G (p.Ile55Ser)
c.-146T>G (n.-146T>G)
n.469T>G
c.338T>G (p.Ile113Ser)
c.308T>G (p.Ile103Ser)
n.351+5128A>C
 dbSNP gnomAD v3 gnomAD v4
22g.36864965T=CA2404070858NCF4,NCF4-AS1c.164T= (p.Ile55=)
c.-146T= (n.-146T=)
n.469T=
c.338T= (p.Ile113=)
c.308T= (p.Ile103=)
n.351+5128A=
22g.36864965_36864974delinsTCTACCGCCGCA2404070857NCF4,NCF4-AS1c.164_173delinsTCTACCGCCG (p.Ile55=)
c.-146_-137delinsTCTACCGCCG (n.-146_-137delinsTCTACCGCCG)
n.469_478delinsTCTACCGCCG
c.338_347delinsTCTACCGCCG (p.Ile113=)
c.308_317delinsTCTACCGCCG (p.Ile103=)
n.351+5119_351+5128delinsCGGCGGTAGA
22g.36864966C>ACA514363239NCF4,NCF4-AS1c.165C>A (p.Ile55=)
c.-145C>A (n.-145C>A)
n.470C>A
c.339C>A (p.Ile113=)
c.309C>A (p.Ile103=)
n.351+5127G>T
22g.36864966C>GCA411378995NCF4,NCF4-AS1c.165C>G (p.Ile55Met)
c.-145C>G (n.-145C>G)
n.470C>G
c.339C>G (p.Ile113Met)
c.309C>G (p.Ile103Met)
n.351+5127G>C
22g.36864966C>TCA514363235NCF4,NCF4-AS1c.165C>T (p.Ile55=)
c.-145C>T (n.-145C>T)
n.470C>T
c.339C>T (p.Ile113=)
c.309C>T (p.Ile103=)
n.351+5127G>A
22g.36864974_36864982delCA1025510203NCF4,NCF4-AS1c.173_181del (p.Arg58_Arg60del)
c.-137_-129del (n.-137_-129del)
n.478_486del
c.347_355del (p.Arg116_Arg118del)
c.317_325del (p.Arg106_Arg108del)
n.351+5119_351+5127del
 dbSNP gnomAD v3 gnomAD v4
22g.36864967T>ACA411379001NCF4,NCF4-AS1c.166T>A (p.Tyr56Asn)
c.-144T>A (n.-144T>A)
n.471T>A
c.340T>A (p.Tyr114Asn)
c.310T>A (p.Tyr104Asn)
n.351+5126A>T
22g.36864967T>CCA411379004NCF4,NCF4-AS1c.166T>C (p.Tyr56His)
c.-144T>C (n.-144T>C)
n.471T>C
c.340T>C (p.Tyr114His)
c.310T>C (p.Tyr104His)
n.351+5126A>G
22g.36864967T>GCA411378999NCF4,NCF4-AS1c.166T>G (p.Tyr56Asp)
c.-144T>G (n.-144T>G)
n.471T>G
c.340T>G (p.Tyr114Asp)
c.310T>G (p.Tyr104Asp)
n.351+5126A>C
22g.36864968A=CA2404070859NCF4,NCF4-AS1c.167A= (p.Tyr56=)
c.-143A= (n.-143A=)
n.472A=
c.341A= (p.Tyr114=)
c.311A= (p.Tyr104=)
n.351+5125T=
22g.36864968A>CCA411379009NCF4,NCF4-AS1c.167A>C (p.Tyr56Ser)
c.-143A>C (n.-143A>C)
n.472A>C
c.341A>C (p.Tyr114Ser)
c.311A>C (p.Tyr104Ser)
n.351+5125T>G
22g.36864968A>GCA411379006NCF4,NCF4-AS1c.167A>G (p.Tyr56Cys)
c.-143A>G (n.-143A>G)
n.472A>G
c.341A>G (p.Tyr114Cys)
c.311A>G (p.Tyr104Cys)
n.351+5125T>C
22g.36864968A>TCA411379010NCF4,NCF4-AS1c.167A>T (p.Tyr56Phe)
c.-143A>T (n.-143A>T)
n.472A>T
c.341A>T (p.Tyr114Phe)
c.311A>T (p.Tyr104Phe)
n.351+5125T>A
22g.36864969C>ACA411379011NCF4,NCF4-AS1c.168C>A (p.Tyr56Ter)
c.-142C>A (n.-142C>A)
n.473C>A
c.342C>A (p.Tyr114Ter)
c.312C>A (p.Tyr104Ter)
n.351+5124G>T
22g.36864969C>GCA411379012NCF4,NCF4-AS1c.168C>G (p.Tyr56Ter)
c.-142C>G (n.-142C>G)
n.473C>G
c.342C>G (p.Tyr114Ter)
c.312C>G (p.Tyr104Ter)
n.351+5124G>C
 gnomAD v4
22g.36864969C>TCA514363251NCF4,NCF4-AS1c.168C>T (p.Tyr56=)
c.-142C>T (n.-142C>T)
n.473C>T
c.342C>T (p.Tyr114=)
c.312C>T (p.Tyr104=)
n.351+5124G>A
 gnomAD v4
22g.36864970_36864971insCCCCCA323985674NCF4,NCF4-AS1c.169_170insCCCC (p.Arg57ProfsTer?)
c.-141_-140insCCCC (n.-141_-140insCCCC)
n.474_475insCCCC
c.343_344insCCCC (p.Arg115ProfsTer?)
c.313_314insCCCC (p.Arg105ProfsTer?)
n.351+5124_351+5125insGGGG
 dbSNP
22g.36864970C>ACA411379016NCF4,NCF4-AS1c.169C>A (p.Arg57Ser)
c.-141C>A (n.-141C>A)
n.474C>A
c.343C>A (p.Arg115Ser)
c.313C>A (p.Arg105Ser)
n.351+5123G>T
22g.36864970C=CA2404070860NCF4,NCF4-AS1c.169C= (p.Arg57=)
c.-141C= (n.-141C=)
n.474C=
c.343C= (p.Arg115=)
c.313C= (p.Arg105=)
n.351+5123G=
22g.36864970C>GCA411379018NCF4,NCF4-AS1c.169C>G (p.Arg57Gly)
c.-141C>G (n.-141C>G)
n.474C>G
c.343C>G (p.Arg115Gly)
c.313C>G (p.Arg105Gly)
n.351+5123G>C
22g.36864970C>TCA10212878NCF4,NCF4-AS1c.169C>T (p.Arg57Cys)
c.-141C>T (n.-141C>T)
n.474C>T
c.343C>T (p.Arg115Cys)
c.313C>T (p.Arg105Cys)
n.351+5123G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36864971G>ACA411379023NCF4,NCF4-AS1c.170G>A (p.Arg57His)
c.-140G>A (n.-140G>A)
n.475G>A
c.344G>A (p.Arg115His)
c.314G>A (p.Arg105His)
n.351+5122C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.36864971G>CCA323985690NCF4,NCF4-AS1c.170G>C (p.Arg57Pro)
c.-140G>C (n.-140G>C)
n.475G>C
c.344G>C (p.Arg115Pro)
c.314G>C (p.Arg105Pro)
n.351+5122C>G
 dbSNP gnomAD v3 gnomAD v4
22g.36864971G=CA2404070861NCF4,NCF4-AS1c.170G= (p.Arg57=)
c.-140G= (n.-140G=)
n.475G=
c.344G= (p.Arg115=)
c.314G= (p.Arg105=)
n.351+5122C=
22g.36864971G>TCA10212879NCF4,NCF4-AS1c.170G>T (p.Arg57Leu)
c.-140G>T (n.-140G>T)
n.475G>T
c.344G>T (p.Arg115Leu)
c.314G>T (p.Arg105Leu)
n.351+5122C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.36864972C>ACA10212880NCF4,NCF4-AS1c.171C>A (p.Arg57=)
c.-139C>A (n.-139C>A)
n.476C>A
c.345C>A (p.Arg115=)
c.315C>A (p.Arg105=)
n.351+5121G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36864972C=CA2404070862NCF4,NCF4-AS1c.171C= (p.Arg57=)
c.-139C= (n.-139C=)
n.476C=
c.345C= (p.Arg115=)
c.315C= (p.Arg105=)
n.351+5121G=
22g.36864972C>GCA514363274NCF4,NCF4-AS1c.171C>G (p.Arg57=)
c.-139C>G (n.-139C>G)
n.476C>G
c.345C>G (p.Arg115=)
c.315C>G (p.Arg105=)
n.351+5121G>C
22g.36864972C>TCA514363271NCF4,NCF4-AS1c.171C>T (p.Arg57=)
c.-139C>T (n.-139C>T)
n.476C>T
c.345C>T (p.Arg115=)
c.315C>T (p.Arg105=)
n.351+5121G>A
 gnomAD v4
22g.36864973C>ACA411379033NCF4,NCF4-AS1c.172C>A (p.Arg58Ser)
c.-138C>A (n.-138C>A)
n.477C>A
c.346C>A (p.Arg116Ser)
c.316C>A (p.Arg106Ser)
n.351+5120G>T
22g.36864973C=CA2404070863NCF4,NCF4-AS1c.172C= (p.Arg58=)
c.-138C= (n.-138C=)
n.477C=
c.346C= (p.Arg116=)
c.316C= (p.Arg106=)
n.351+5120G=
22g.36864973C>GCA411379035NCF4,NCF4-AS1c.172C>G (p.Arg58Gly)
c.-138C>G (n.-138C>G)
n.477C>G
c.346C>G (p.Arg116Gly)
c.316C>G (p.Arg106Gly)
n.351+5120G>C
 dbSNP
22g.36864973C>TCA10212881NCF4,NCF4-AS1c.172C>T (p.Arg58Cys)
c.-138C>T (n.-138C>T)
n.477C>T
c.346C>T (p.Arg116Cys)
c.316C>T (p.Arg106Cys)
n.351+5120G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.36864974G>ACA10212882NCF4,NCF4-AS1c.173G>A (p.Arg58His)
c.-137G>A (n.-137G>A)
n.478G>A
c.347G>A (p.Arg116His)
c.317G>A (p.Arg106His)
n.351+5119C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.36864974G>CCA411379042NCF4,NCF4-AS1c.173G>C (p.Arg58Pro)
c.-137G>C (n.-137G>C)
n.478G>C
c.347G>C (p.Arg116Pro)
c.317G>C (p.Arg106Pro)
n.351+5119C>G
22g.36864974G=CA2404070864NCF4,NCF4-AS1c.173G= (p.Arg58=)
c.-137G= (n.-137G=)
n.478G=
c.347G= (p.Arg116=)
c.317G= (p.Arg106=)
n.351+5119C=
22g.36864974G>TCA411379044NCF4,NCF4-AS1c.173G>T (p.Arg58Leu)
c.-137G>T (n.-137G>T)
n.478G>T
c.347G>T (p.Arg116Leu)
c.317G>T (p.Arg106Leu)
n.351+5119C>A
22g.36864975C>ACA514363298NCF4,NCF4-AS1c.174C>A (p.Arg58=)
c.-136C>A (n.-136C>A)
n.479C>A
c.348C>A (p.Arg116=)
c.318C>A (p.Arg106=)
n.351+5118G>T
22g.36864975C>GCA514363296NCF4,NCF4-AS1c.174C>G (p.Arg58=)
c.-136C>G (n.-136C>G)
n.479C>G
c.348C>G (p.Arg116=)
c.318C>G (p.Arg106=)
n.351+5118G>C
22g.36864975C>TCA514363293NCF4,NCF4-AS1c.174C>T (p.Arg58=)
c.-136C>T (n.-136C>T)
n.479C>T
c.348C>T (p.Arg116=)
c.318C>T (p.Arg106=)
n.351+5118G>A
22g.36864976T>ACA411379049NCF4,NCF4-AS1c.175T>A (p.Tyr59Asn)
c.-135T>A (n.-135T>A)
n.480T>A
c.349T>A (p.Tyr117Asn)
c.319T>A (p.Tyr107Asn)
n.351+5117A>T
22g.36864976T>CCA411379054NCF4,NCF4-AS1c.175T>C (p.Tyr59His)
c.-135T>C (n.-135T>C)
n.480T>C
c.349T>C (p.Tyr117His)
c.319T>C (p.Tyr107His)
n.351+5117A>G
22g.36864976T>GCA411379056NCF4,NCF4-AS1c.175T>G (p.Tyr59Asp)
c.-135T>G (n.-135T>G)
n.480T>G
c.349T>G (p.Tyr117Asp)
c.319T>G (p.Tyr107Asp)
n.351+5117A>C
22g.36864977A>CCA411379059NCF4,NCF4-AS1c.176A>C (p.Tyr59Ser)
c.-134A>C (n.-134A>C)
n.481A>C
c.350A>C (p.Tyr117Ser)
c.320A>C (p.Tyr107Ser)
n.351+5116T>G
22g.36864977A>GCA411379061NCF4,NCF4-AS1c.176A>G (p.Tyr59Cys)
c.-134A>G (n.-134A>G)
n.481A>G
c.350A>G (p.Tyr117Cys)
c.320A>G (p.Tyr107Cys)
n.351+5116T>C
22g.36864977A>TCA411379064NCF4,NCF4-AS1c.176A>T (p.Tyr59Phe)
c.-134A>T (n.-134A>T)
n.481A>T
c.350A>T (p.Tyr117Phe)
c.320A>T (p.Tyr107Phe)
n.351+5116T>A
22g.36864978C>ACA411379066NCF4,NCF4-AS1c.177C>A (p.Tyr59Ter)
c.-133C>A (n.-133C>A)
n.482C>A
c.351C>A (p.Tyr117Ter)
c.321C>A (p.Tyr107Ter)
n.351+5115G>T
 gnomAD v4
22g.36864978C>GCA411379067NCF4,NCF4-AS1c.177C>G (p.Tyr59Ter)
c.-133C>G (n.-133C>G)
n.482C>G
c.351C>G (p.Tyr117Ter)
c.321C>G (p.Tyr107Ter)
n.351+5115G>C
22g.36864978C>TCA514363311NCF4,NCF4-AS1c.177C>T (p.Tyr59=)
c.-133C>T (n.-133C>T)
n.482C>T
c.351C>T (p.Tyr117=)
c.321C>T (p.Tyr107=)
n.351+5115G>A
22g.36864979C>ACA411379072NCF4,NCF4-AS1c.178C>A (p.Arg60Ser)
c.-132C>A (n.-132C>A)
n.483C>A
c.352C>A (p.Arg118Ser)
c.322C>A (p.Arg108Ser)
n.351+5114G>T
22g.36864979C=CA2404070865NCF4,NCF4-AS1c.178C= (p.Arg60=)
c.-132C= (n.-132C=)
n.483C=
c.352C= (p.Arg118=)
c.322C= (p.Arg108=)
n.351+5114G=
22g.36864979C>GCA411379075NCF4,NCF4-AS1c.178C>G (p.Arg60Gly)
c.-132C>G (n.-132C>G)
n.483C>G
c.352C>G (p.Arg118Gly)
c.322C>G (p.Arg108Gly)
n.351+5114G>C
22g.36864979C>TCA10212883NCF4,NCF4-AS1c.178C>T (p.Arg60Cys)
c.-132C>T (n.-132C>T)
n.483C>T
c.352C>T (p.Arg118Cys)
c.322C>T (p.Arg108Cys)
n.351+5114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36864980G>ACA10212884NCF4,NCF4-AS1c.179G>A (p.Arg60His)
c.-131G>A (n.-131G>A)
n.484G>A
c.353G>A (p.Arg118His)
c.323G>A (p.Arg108His)
n.351+5113C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36864980G>CCA411379082NCF4,NCF4-AS1c.179G>C (p.Arg60Pro)
c.-131G>C (n.-131G>C)
n.484G>C
c.353G>C (p.Arg118Pro)
c.323G>C (p.Arg108Pro)
n.351+5113C>G
22g.36864980G=CA2404070866NCF4,NCF4-AS1c.179G= (p.Arg60=)
c.-131G= (n.-131G=)
n.484G=
c.353G= (p.Arg118=)
c.323G= (p.Arg108=)
n.351+5113C=
22g.36864980G>TCA411379080NCF4,NCF4-AS1c.179G>T (p.Arg60Leu)
c.-131G>T (n.-131G>T)
n.484G>T
c.353G>T (p.Arg118Leu)
c.323G>T (p.Arg108Leu)
n.351+5113C>A
 gnomAD v4 COSMIC COSMIC
22g.36864981C>ACA514363326NCF4,NCF4-AS1c.180C>A (p.Arg60=)
c.-130C>A (n.-130C>A)
n.485C>A
c.354C>A (p.Arg118=)
c.324C>A (p.Arg108=)
n.351+5112G>T
22g.36864981C=CA2404070867NCF4,NCF4-AS1c.180C= (p.Arg60=)
c.-130C= (n.-130C=)
n.485C=
c.354C= (p.Arg118=)
c.324C= (p.Arg108=)
n.351+5112G=
22g.36864981C>GCA514363323NCF4,NCF4-AS1c.180C>G (p.Arg60=)
c.-130C>G (n.-130C>G)
n.485C>G
c.354C>G (p.Arg118=)
c.324C>G (p.Arg108=)
n.351+5112G>C
22g.36864981C>TCA10212885NCF4,NCF4-AS1c.180C>T (p.Arg60=)
c.-130C>T (n.-130C>T)
n.485C>T
c.354C>T (p.Arg118=)
c.324C>T (p.Arg108=)
n.351+5112G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.36864982C>ACA411379088NCF4,NCF4-AS1c.181C>A (p.Gln61Lys)
c.-129C>A (n.-129C>A)
n.486C>A
c.355C>A (p.Gln119Lys)
c.325C>A (p.Gln109Lys)
n.351+5111G>T
22g.36864982C>GCA411379091NCF4,NCF4-AS1c.181C>G (p.Gln61Glu)
c.-129C>G (n.-129C>G)
n.486C>G
c.355C>G (p.Gln119Glu)
c.325C>G (p.Gln109Glu)
n.351+5111G>C
22g.36864982C>TCA411379093NCF4,NCF4-AS1c.181C>T (p.Gln61Ter)
c.-129C>T (n.-129C>T)
n.486C>T
c.355C>T (p.Gln119Ter)
c.325C>T (p.Gln109Ter)
n.351+5111G>A
22g.36864983A>CCA411379097NCF4,NCF4-AS1c.182A>C (p.Gln61Pro)
c.-128A>C (n.-128A>C)
n.487A>C
c.356A>C (p.Gln119Pro)
c.326A>C (p.Gln109Pro)
n.351+5110T>G
22g.36864983A>GCA411379100NCF4,NCF4-AS1c.182A>G (p.Gln61Arg)
c.-128A>G (n.-128A>G)
n.487A>G
c.356A>G (p.Gln119Arg)
c.326A>G (p.Gln109Arg)
n.351+5110T>C
22g.36864983A>TCA411379101NCF4,NCF4-AS1c.182A>T (p.Gln61Leu)
c.-128A>T (n.-128A>T)
n.487A>T
c.356A>T (p.Gln119Leu)
c.326A>T (p.Gln109Leu)
n.351+5110T>A
22g.36864984G>ACA514363341NCF4,NCF4-AS1c.183G>A (p.Gln61=)
c.-127G>A (n.-127G>A)
n.488G>A
c.357G>A (p.Gln119=)
c.327G>A (p.Gln109=)
n.351+5109C>T
22g.36864984G>CCA411379104NCF4,NCF4-AS1c.183G>C (p.Gln61His)
c.-127G>C (n.-127G>C)
n.488G>C
c.357G>C (p.Gln119His)
c.327G>C (p.Gln109His)
n.351+5109C>G
22g.36864984G>TCA411379105NCF4,NCF4-AS1c.183G>T (p.Gln61His)
c.-127G>T (n.-127G>T)
n.488G>T
c.357G>T (p.Gln119His)
c.327G>T (p.Gln109His)
n.351+5109C>A
22g.36864985T>ACA411379109NCF4,NCF4-AS1c.184T>A (p.Phe62Ile)
c.-126T>A (n.-126T>A)
n.489T>A
c.358T>A (p.Phe120Ile)
c.328T>A (p.Phe110Ile)
n.351+5108A>T
22g.36864985T>CCA411379111NCF4,NCF4-AS1c.184T>C (p.Phe62Leu)
c.-126T>C (n.-126T>C)
n.489T>C
c.358T>C (p.Phe120Leu)
c.328T>C (p.Phe110Leu)
n.351+5108A>G
22g.36864985T>GCA411379114NCF4,NCF4-AS1c.184T>G (p.Phe62Val)
c.-126T>G (n.-126T>G)
n.489T>G
c.358T>G (p.Phe120Val)
c.328T>G (p.Phe110Val)
n.351+5108A>C
22g.36864986T>ACA411379125NCF4,NCF4-AS1c.185T>A (p.Phe62Tyr)
c.-125T>A (n.-125T>A)
n.490T>A
c.359T>A (p.Phe120Tyr)
c.329T>A (p.Phe110Tyr)
n.351+5107A>T
22g.36864986T>CCA411379127NCF4,NCF4-AS1c.185T>C (p.Phe62Ser)
c.-125T>C (n.-125T>C)
n.490T>C
c.359T>C (p.Phe120Ser)
c.329T>C (p.Phe110Ser)
n.351+5107A>G
22g.36864986T>GCA411379123NCF4,NCF4-AS1c.185T>G (p.Phe62Cys)
c.-125T>G (n.-125T>G)
n.490T>G
c.359T>G (p.Phe120Cys)
c.329T>G (p.Phe110Cys)
n.351+5107A>C
22g.36864987C>ACA411379131NCF4,NCF4-AS1c.186C>A (p.Phe62Leu)
c.-124C>A (n.-124C>A)
n.491C>A
c.360C>A (p.Phe120Leu)
c.330C>A (p.Phe110Leu)
n.351+5106G>T
22g.36864987C>GCA411379133NCF4,NCF4-AS1c.186C>G (p.Phe62Leu)
c.-124C>G (n.-124C>G)
n.491C>G
c.360C>G (p.Phe120Leu)
c.330C>G (p.Phe110Leu)
n.351+5106G>C
22g.36864987C>TCA514363356NCF4,NCF4-AS1c.186C>T (p.Phe62=)
c.-124C>T (n.-124C>T)
n.491C>T
c.360C>T (p.Phe120=)
c.330C>T (p.Phe110=)
n.351+5106G>A
 COSMIC COSMIC
22g.36864988C>ACA411379135NCF4,NCF4-AS1c.187C>A (p.His63Asn)
c.-123C>A (n.-123C>A)
n.492C>A
c.361C>A (p.His121Asn)
c.331C>A (p.His111Asn)
n.351+5105G>T
22g.36864988C=CA2404070868NCF4,NCF4-AS1c.187C= (p.His63=)
c.-123C= (n.-123C=)
n.492C=
c.361C= (p.His121=)
c.331C= (p.His111=)
n.351+5105G=
22g.36864988C>GCA411379137NCF4,NCF4-AS1c.187C>G (p.His63Asp)
c.-123C>G (n.-123C>G)
n.492C>G
c.361C>G (p.His121Asp)
c.331C>G (p.His111Asp)
n.351+5105G>C
22g.36864988C>TCA411379139NCF4,NCF4-AS1c.187C>T (p.His63Tyr)
c.-123C>T (n.-123C>T)
n.492C>T
c.361C>T (p.His121Tyr)
c.331C>T (p.His111Tyr)
n.351+5105G>A
 dbSNP gnomAD v4
22g.36864989A=CA2404070869NCF4,NCF4-AS1c.188A= (p.His63=)
c.-122A= (n.-122A=)
n.493A=
c.362A= (p.His121=)
c.332A= (p.His111=)
n.351+5104T=
22g.36864989A>CCA411379144NCF4,NCF4-AS1c.188A>C (p.His63Pro)
c.-122A>C (n.-122A>C)
n.493A>C
c.362A>C (p.His121Pro)
c.332A>C (p.His111Pro)
n.351+5104T>G
22g.36864989A>GCA10212886NCF4,NCF4-AS1c.188A>G (p.His63Arg)
c.-122A>G (n.-122A>G)
n.493A>G
c.362A>G (p.His121Arg)
c.332A>G (p.His111Arg)
n.351+5104T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.36864989A>TCA411379142NCF4,NCF4-AS1c.188A>T (p.His63Leu)
c.-122A>T (n.-122A>T)
n.493A>T
c.362A>T (p.His121Leu)
c.332A>T (p.His111Leu)
n.351+5104T>A
22g.36864990T>ACA411379146NCF4,NCF4-AS1c.189T>A (p.His63Gln)
c.-121T>A (n.-121T>A)
n.494T>A
c.363T>A (p.His121Gln)
c.333T>A (p.His111Gln)
n.351+5103A>T
22g.36864990T>CCA514363379NCF4,NCF4-AS1c.189T>C (p.His63=)
c.-121T>C (n.-121T>C)
n.494T>C
c.363T>C (p.His121=)
c.333T>C (p.His111=)
n.351+5103A>G
 dbSNP gnomAD v4
22g.36864990T>GCA411379147NCF4,NCF4-AS1c.189T>G (p.His63Gln)
c.-121T>G (n.-121T>G)
n.494T>G
c.363T>G (p.His121Gln)
c.333T>G (p.His111Gln)
n.351+5103A>C
22g.36864990T=CA2404070870NCF4,NCF4-AS1c.189T= (p.His63=)
c.-121T= (n.-121T=)
n.494T=
c.363T= (p.His121=)
c.333T= (p.His111=)
n.351+5103A=
22g.36864991G>ACA411379151NCF4,NCF4-AS1c.190G>A (p.Ala64Thr)
c.-120G>A (n.-120G>A)
n.495G>A
c.364G>A (p.Ala122Thr)
c.334G>A (p.Ala112Thr)
n.351+5102C>T
22g.36864991G>CCA411379152NCF4,NCF4-AS1c.190G>C (p.Ala64Pro)
c.-120G>C (n.-120G>C)
n.495G>C
c.364G>C (p.Ala122Pro)
c.334G>C (p.Ala112Pro)
n.351+5102C>G
22g.36864991G>TCA411379154NCF4,NCF4-AS1c.190G>T (p.Ala64Ser)
c.-120G>T (n.-120G>T)
n.495G>T
c.364G>T (p.Ala122Ser)
c.334G>T (p.Ala112Ser)
n.351+5102C>A
22g.36864992C>ACA411379161NCF4,NCF4-AS1c.191C>A (p.Ala64Asp)
c.-119C>A (n.-119C>A)
n.496C>A
c.365C>A (p.Ala122Asp)
c.335C>A (p.Ala112Asp)
n.351+5101G>T
22g.36864992C=CA2404070871NCF4,NCF4-AS1c.191C= (p.Ala64=)
c.-119C= (n.-119C=)
n.496C=
c.365C= (p.Ala122=)
c.335C= (p.Ala112=)
n.351+5101G=
22g.36864992C>GCA411379159NCF4,NCF4-AS1c.191C>G (p.Ala64Gly)
c.-119C>G (n.-119C>G)
n.496C>G
c.365C>G (p.Ala122Gly)
c.335C>G (p.Ala112Gly)
n.351+5101G>C
22g.36864992C>TCA411379157NCF4,NCF4-AS1c.191C>T (p.Ala64Val)
c.-119C>T (n.-119C>T)
n.496C>T
c.365C>T (p.Ala122Val)
c.335C>T (p.Ala112Val)
n.351+5101G>A
 dbSNP gnomAD v2 gnomAD v4
22g.36864993T>ACA514363404NCF4,NCF4-AS1c.192T>A (p.Ala64=)
c.-118T>A (n.-118T>A)
n.497T>A
c.366T>A (p.Ala122=)
c.336T>A (p.Ala112=)
n.351+5100A>T
22g.36864993T>CCA514363398NCF4,NCF4-AS1c.192T>C (p.Ala64=)
c.-118T>C (n.-118T>C)
n.497T>C
c.366T>C (p.Ala122=)
c.336T>C (p.Ala112=)
n.351+5100A>G
22g.36864993T>GCA514363401NCF4,NCF4-AS1c.192T>G (p.Ala64=)
c.-118T>G (n.-118T>G)
n.497T>G
c.366T>G (p.Ala122=)
c.336T>G (p.Ala112=)
n.351+5100A>C
22g.36864994T>ACA411379163NCF4,NCF4-AS1c.193T>A (p.Leu65Met)
c.-117T>A (n.-117T>A)
n.498T>A
c.367T>A (p.Leu123Met)
c.337T>A (p.Leu113Met)
n.351+5099A>T
22g.36864994T>CCA514363410NCF4,NCF4-AS1c.193T>C (p.Leu65=)
c.-117T>C (n.-117T>C)
n.498T>C
c.367T>C (p.Leu123=)
c.337T>C (p.Leu113=)
n.351+5099A>G
22g.36864994T>GCA411379165NCF4,NCF4-AS1c.193T>G (p.Leu65Val)
c.-117T>G (n.-117T>G)
n.498T>G
c.367T>G (p.Leu123Val)
c.337T>G (p.Leu113Val)
n.351+5099A>C
22g.36864995T>ACA411379167NCF4,NCF4-AS1c.194T>A (p.Leu65Ter)
c.-116T>A (n.-116T>A)
n.499T>A
c.368T>A (p.Leu123Ter)
c.338T>A (p.Leu113Ter)
n.351+5098A>T
22g.36864995T>CCA411379169NCF4,NCF4-AS1c.194T>C (p.Leu65Ser)
c.-116T>C (n.-116T>C)
n.499T>C
c.368T>C (p.Leu123Ser)
c.338T>C (p.Leu113Ser)
n.351+5098A>G
22g.36864995T>GCA411379171NCF4,NCF4-AS1c.194T>G (p.Leu65Trp)
c.-116T>G (n.-116T>G)
n.499T>G
c.368T>G (p.Leu123Trp)
c.338T>G (p.Leu113Trp)
n.351+5098A>C
22g.36864996G>ACA514363423NCF4,NCF4-AS1c.195G>A (p.Leu65=)
c.-115G>A (n.-115G>A)
n.500G>A
c.369G>A (p.Leu123=)
c.339G>A (p.Leu113=)
n.351+5097C>T
22g.36864996G>CCA411379172NCF4,NCF4-AS1c.195G>C (p.Leu65Phe)
c.-115G>C (n.-115G>C)
n.500G>C
c.369G>C (p.Leu123Phe)
c.339G>C (p.Leu113Phe)
n.351+5097C>G
 dbSNP gnomAD v4
22g.36864996G=CA2404070872NCF4,NCF4-AS1c.195G= (p.Leu65=)
c.-115G= (n.-115G=)
n.500G=
c.369G= (p.Leu123=)
c.339G= (p.Leu113=)
n.351+5097C=
22g.36864996G>TCA411379173NCF4,NCF4-AS1c.195G>T (p.Leu65Phe)
c.-115G>T (n.-115G>T)
n.500G>T
c.369G>T (p.Leu123Phe)
c.339G>T (p.Leu113Phe)
n.351+5097C>A
22g.36864997C>ACA411379174NCF4,NCF4-AS1c.196C>A (p.Gln66Lys)
c.-114C>A (n.-114C>A)
n.501C>A
c.370C>A (p.Gln124Lys)
c.340C>A (p.Gln114Lys)
n.351+5096G>T
22g.36864997C>GCA411379176NCF4,NCF4-AS1c.196C>G (p.Gln66Glu)
c.-114C>G (n.-114C>G)
n.501C>G
c.370C>G (p.Gln124Glu)
c.340C>G (p.Gln114Glu)
n.351+5096G>C
22g.36864997C>TCA411379177NCF4,NCF4-AS1c.196C>T (p.Gln66Ter)
c.-114C>T (n.-114C>T)
n.501C>T
c.370C>T (p.Gln124Ter)
c.340C>T (p.Gln114Ter)
n.351+5096G>A
22g.36864998A>CCA411379179NCF4,NCF4-AS1c.197A>C (p.Gln66Pro)
c.-113A>C (n.-113A>C)
n.502A>C
c.371A>C (p.Gln124Pro)
c.341A>C (p.Gln114Pro)
n.351+5095T>G
22g.36864998A>GCA411379181NCF4,NCF4-AS1c.197A>G (p.Gln66Arg)
c.-113A>G (n.-113A>G)
n.502A>G
c.371A>G (p.Gln124Arg)
c.341A>G (p.Gln114Arg)
n.351+5095T>C
22g.36864998A>TCA411379182NCF4,NCF4-AS1c.197A>T (p.Gln66Leu)
c.-113A>T (n.-113A>T)
n.502A>T
c.371A>T (p.Gln124Leu)
c.341A>T (p.Gln114Leu)
n.351+5095T>A
22g.36864999G>ACA514363447NCF4,NCF4-AS1c.198G>A (p.Gln66=)
c.-112G>A (n.-112G>A)
n.503G>A
c.372G>A (p.Gln124=)
c.342G>A (p.Gln114=)
n.351+5094C>T
22g.36864999G>CCA411379185NCF4,NCF4-AS1c.198G>C (p.Gln66His)
c.-112G>C (n.-112G>C)
n.503G>C
c.372G>C (p.Gln124His)
c.342G>C (p.Gln114His)
n.351+5094C>G
22g.36864999G>TCA411379187NCF4,NCF4-AS1c.198G>T (p.Gln66His)
c.-112G>T (n.-112G>T)
n.503G>T
c.372G>T (p.Gln124His)
c.342G>T (p.Gln114His)
n.351+5094C>A
22g.36865000A>CCA411379189NCF4,NCF4-AS1c.199A>C (p.Ser67Arg)
c.-111A>C (n.-111A>C)
n.504A>C
c.373A>C (p.Ser125Arg)
c.343A>C (p.Ser115Arg)
n.351+5093T>G
22g.36865000A>GCA411379193NCF4,NCF4-AS1c.199A>G (p.Ser67Gly)
c.-111A>G (n.-111A>G)
n.504A>G
c.373A>G (p.Ser125Gly)
c.343A>G (p.Ser115Gly)
n.351+5093T>C
22g.36865000A>TCA411379191NCF4,NCF4-AS1c.199A>T (p.Ser67Cys)
c.-111A>T (n.-111A>T)
n.504A>T
c.373A>T (p.Ser125Cys)
c.343A>T (p.Ser115Cys)
n.351+5093T>A
22g.36865001G>ACA411379195NCF4,NCF4-AS1c.200G>A (p.Ser67Asn)
c.-110G>A (n.-110G>A)
n.505G>A
c.374G>A (p.Ser125Asn)
c.344G>A (p.Ser115Asn)
n.351+5092C>T
22g.36865001G>CCA411379197NCF4,NCF4-AS1c.200G>C (p.Ser67Thr)
c.-110G>C (n.-110G>C)
n.505G>C
c.374G>C (p.Ser125Thr)
c.344G>C (p.Ser115Thr)
n.351+5092C>G
 gnomAD v4
22g.36865001G>TCA411379199NCF4,NCF4-AS1c.200G>T (p.Ser67Ile)
c.-110G>T (n.-110G>T)
n.505G>T
c.374G>T (p.Ser125Ile)
c.344G>T (p.Ser115Ile)
n.351+5092C>A
22g.36865002C>ACA411379202NCF4,NCF4-AS1c.201C>A (p.Ser67Arg)
c.-109C>A (n.-109C>A)
n.506C>A
c.375C>A (p.Ser125Arg)
c.345C>A (p.Ser115Arg)
n.351+5091G>T
22g.36865002C=CA2404070873NCF4,NCF4-AS1c.201C= (p.Ser67=)
c.-109C= (n.-109C=)
n.506C=
c.375C= (p.Ser125=)
c.345C= (p.Ser115=)
n.351+5091G=
22g.36865002C>GCA323985744NCF4,NCF4-AS1c.201C>G (p.Ser67Arg)
c.-109C>G (n.-109C>G)
n.506C>G
c.375C>G (p.Ser125Arg)
c.345C>G (p.Ser115Arg)
n.351+5091G>C
 dbSNP gnomAD v4 COSMIC COSMIC
22g.36865002C>TCA514363462NCF4,NCF4-AS1c.201C>T (p.Ser67=)
c.-109C>T (n.-109C>T)
n.506C>T
c.375C>T (p.Ser125=)
c.345C>T (p.Ser115=)
n.351+5091G>A
 ClinVar dbSNP
22g.36865003A>CCA411379205NCF4,NCF4-AS1c.202A>C (p.Lys68Gln)
c.-108A>C (n.-108A>C)
n.507A>C
c.376A>C (p.Lys126Gln)
c.346A>C (p.Lys116Gln)
n.351+5090T>G
22g.36865003A>GCA411379207NCF4,NCF4-AS1c.202A>G (p.Lys68Glu)
c.-108A>G (n.-108A>G)
n.507A>G
c.376A>G (p.Lys126Glu)
c.346A>G (p.Lys116Glu)
n.351+5090T>C
22g.36865003A>TCA411379209NCF4,NCF4-AS1c.202A>T (p.Lys68Ter)
c.-108A>T (n.-108A>T)
n.507A>T
c.376A>T (p.Lys126Ter)
c.346A>T (p.Lys116Ter)
n.351+5090T>A
22g.36865004A=CA2404070874NCF4,NCF4-AS1c.203A= (p.Lys68=)
c.-107A= (n.-107A=)
n.508A=
c.377A= (p.Lys126=)
c.347A= (p.Lys116=)
n.351+5089T=
22g.36865004A>CCA411379211NCF4,NCF4-AS1c.203A>C (p.Lys68Thr)
c.-107A>C (n.-107A>C)
n.508A>C
c.377A>C (p.Lys126Thr)
c.347A>C (p.Lys116Thr)
n.351+5089T>G
22g.36865004A>GCA411379213NCF4,NCF4-AS1c.203A>G (p.Lys68Arg)
c.-107A>G (n.-107A>G)
n.508A>G
c.377A>G (p.Lys126Arg)
c.347A>G (p.Lys116Arg)
n.351+5089T>C
22g.36865004A>TCA411379214NCF4,NCF4-AS1c.203A>T (p.Lys68Met)
c.-107A>T (n.-107A>T)
n.508A>T
c.377A>T (p.Lys126Met)
c.347A>T (p.Lys116Met)
n.351+5089T>A
 dbSNP gnomAD v3 gnomAD v4
22g.36865005G>ACA514363483NCF4,NCF4-AS1c.204G>A (p.Lys68=)
c.-106G>A (n.-106G>A)
n.509G>A
c.378G>A (p.Lys126=)
c.348G>A (p.Lys116=)
n.351+5088C>T
 ClinVar dbSNP
22g.36865005G>CCA411379218NCF4,NCF4-AS1c.204G>C (p.Lys68Asn)
c.-106G>C (n.-106G>C)
n.509G>C
c.378G>C (p.Lys126Asn)
c.348G>C (p.Lys116Asn)
n.351+5088C>G
22g.36865005G>TCA411379217NCF4,NCF4-AS1c.204G>T (p.Lys68Asn)
c.-106G>T (n.-106G>T)
n.509G>T
c.378G>T (p.Lys126Asn)
c.348G>T (p.Lys116Asn)
n.351+5088C>A
22g.36865006C>ACA411379220NCF4,NCF4-AS1c.205C>A (p.Leu69Met)
c.-105C>A (n.-105C>A)
n.510C>A
c.379C>A (p.Leu127Met)
c.349C>A (p.Leu117Met)
n.351+5087G>T
22g.36865006C=CA2404070875NCF4,NCF4-AS1c.205C= (p.Leu69=)
c.-105C= (n.-105C=)
n.510C=
c.379C= (p.Leu127=)
c.349C= (p.Leu117=)
n.351+5087G=
22g.36865006C>GCA411379222NCF4,NCF4-AS1c.205C>G (p.Leu69Val)
c.-105C>G (n.-105C>G)
n.510C>G
c.379C>G (p.Leu127Val)
c.349C>G (p.Leu117Val)
n.351+5087G>C
 dbSNP gnomAD v2 gnomAD v4
22g.36865006C>TCA514363490NCF4,NCF4-AS1c.205C>T (p.Leu69=)
c.-105C>T (n.-105C>T)
n.510C>T
c.379C>T (p.Leu127=)
c.349C>T (p.Leu117=)
n.351+5087G>A
22g.36865007T>ACA411379225NCF4,NCF4-AS1c.206T>A (p.Leu69Gln)
c.-104T>A (n.-104T>A)
n.511T>A
c.380T>A (p.Leu127Gln)
c.350T>A (p.Leu117Gln)
n.351+5086A>T
22g.36865007T>CCA411379227NCF4,NCF4-AS1c.206T>C (p.Leu69Pro)
c.-104T>C (n.-104T>C)
n.511T>C
c.380T>C (p.Leu127Pro)
c.350T>C (p.Leu117Pro)
n.351+5086A>G
22g.36865007T>GCA411379229NCF4,NCF4-AS1c.206T>G (p.Leu69Arg)
c.-104T>G (n.-104T>G)
n.511T>G
c.380T>G (p.Leu127Arg)
c.350T>G (p.Leu117Arg)
n.351+5086A>C
22g.36865008G>ACA514363503NCF4,NCF4-AS1c.207G>A (p.Leu69=)
c.-103G>A (n.-103G>A)
n.512G>A
c.381G>A (p.Leu127=)
c.351G>A (p.Leu117=)
n.351+5085C>T
22g.36865008G>CCA514363501NCF4,NCF4-AS1c.207G>C (p.Leu69=)
c.-103G>C (n.-103G>C)
n.512G>C
c.381G>C (p.Leu127=)
c.351G>C (p.Leu117=)
n.351+5085C>G
22g.36865008G>TCA514363498NCF4,NCF4-AS1c.207G>T (p.Leu69=)
c.-103G>T (n.-103G>T)
n.512G>T
c.381G>T (p.Leu127=)
c.351G>T (p.Leu117=)
n.351+5085C>A
22g.36865009dupCA2843090422NCF4,NCF4-AS1c.208dup (p.Glu70GlyfsTer?)
c.-102dup (n.-102dup)
n.513dup
c.382dup (p.Glu128GlyfsTer?)
c.352dup (p.Glu118GlyfsTer?)
n.351+5085dup
22g.36865009G>ACA411379232NCF4,NCF4-AS1c.208G>A (p.Glu70Lys)
c.-102G>A (n.-102G>A)
n.513G>A
c.382G>A (p.Glu128Lys)
c.352G>A (p.Glu118Lys)
n.351+5084C>T
 gnomAD v4
22g.36865009G>CCA411379233NCF4,NCF4-AS1c.208G>C (p.Glu70Gln)
c.-102G>C (n.-102G>C)
n.513G>C
c.382G>C (p.Glu128Gln)
c.352G>C (p.Glu118Gln)
n.351+5084C>G
22g.36865009G>TCA411379235NCF4,NCF4-AS1c.208G>T (p.Glu70Ter)
c.-102G>T (n.-102G>T)
n.513G>T
c.382G>T (p.Glu128Ter)
c.352G>T (p.Glu118Ter)
n.351+5084C>A
 gnomAD v4
22g.36865010A>CCA411379238NCF4,NCF4-AS1c.209A>C (p.Glu70Ala)
c.-101A>C (n.-101A>C)
n.514A>C
c.383A>C (p.Glu128Ala)
c.353A>C (p.Glu118Ala)
n.351+5083T>G
22g.36865010A>GCA411379240NCF4,NCF4-AS1c.209A>G (p.Glu70Gly)
c.-101A>G (n.-101A>G)
n.514A>G
c.383A>G (p.Glu128Gly)
c.353A>G (p.Glu118Gly)
n.351+5083T>C
22g.36865010A>TCA411379242NCF4,NCF4-AS1c.209A>T (p.Glu70Val)
c.-101A>T (n.-101A>T)
n.514A>T
c.383A>T (p.Glu128Val)
c.353A>T (p.Glu118Val)
n.351+5083T>A
22g.36865011G>ACA514363518NCF4,NCF4-AS1c.210G>A (p.Glu70=)
c.-100G>A (n.-100G>A)
n.515G>A
c.384G>A (p.Glu128=)
c.354G>A (p.Glu118=)
n.351+5082C>T
22g.36865011G>CCA411379244NCF4,NCF4-AS1c.210G>C (p.Glu70Asp)
c.-100G>C (n.-100G>C)
n.515G>C
c.384G>C (p.Glu128Asp)
c.354G>C (p.Glu118Asp)
n.351+5082C>G
22g.36865011G>TCA411379246NCF4,NCF4-AS1c.210G>T (p.Glu70Asp)
c.-100G>T (n.-100G>T)
n.515G>T
c.384G>T (p.Glu128Asp)
c.354G>T (p.Glu118Asp)
n.351+5082C>A
22g.36865012G>ACA411379250NCF4,NCF4-AS1c.211G>A (p.Glu71Lys)
c.-99G>A (n.-99G>A)
n.516G>A
c.385G>A (p.Glu129Lys)
c.355G>A (p.Glu119Lys)
n.351+5081C>T
22g.36865012G>CCA411379252NCF4,NCF4-AS1c.211G>C (p.Glu71Gln)
c.-99G>C (n.-99G>C)
n.516G>C
c.385G>C (p.Glu129Gln)
c.355G>C (p.Glu119Gln)
n.351+5081C>G
22g.36865012G>TCA411379249NCF4,NCF4-AS1c.211G>T (p.Glu71Ter)
c.-99G>T (n.-99G>T)
n.516G>T
c.385G>T (p.Glu129Ter)
c.355G>T (p.Glu119Ter)
n.351+5081C>A
22g.36865013A>CCA411379254NCF4,NCF4-AS1c.212A>C (p.Glu71Ala)
c.-98A>C (n.-98A>C)
n.517A>C
c.386A>C (p.Glu129Ala)
c.356A>C (p.Glu119Ala)
n.351+5080T>G
22g.36865013A>GCA411379255NCF4,NCF4-AS1c.212A>G (p.Glu71Gly)
c.-98A>G (n.-98A>G)
n.517A>G
c.386A>G (p.Glu129Gly)
c.356A>G (p.Glu119Gly)
n.351+5080T>C
22g.36865013A>TCA411379257NCF4,NCF4-AS1c.212A>T (p.Glu71Val)
c.-98A>T (n.-98A>T)
n.517A>T
c.386A>T (p.Glu129Val)
c.356A>T (p.Glu119Val)
n.351+5080T>A
22g.36865014G>ACA514363529NCF4,NCF4-AS1c.213G>A (p.Glu71=)
c.-97G>A (n.-97G>A)
n.518G>A
c.387G>A (p.Glu129=)
c.357G>A (p.Glu119=)
n.351+5079C>T
22g.36865014G>CCA411379258NCF4,NCF4-AS1c.213G>C (p.Glu71Asp)
c.-97G>C (n.-97G>C)
n.518G>C
c.387G>C (p.Glu129Asp)
c.357G>C (p.Glu119Asp)
n.351+5079C>G
 dbSNP gnomAD v3 gnomAD v4
22g.36865014G=CA2404070876NCF4,NCF4-AS1c.213G= (p.Glu71=)
c.-97G= (n.-97G=)
n.518G=
c.387G= (p.Glu129=)
c.357G= (p.Glu119=)
n.351+5079C=
22g.36865014G>TCA411379260NCF4,NCF4-AS1c.213G>T (p.Glu71Asp)
c.-97G>T (n.-97G>T)
n.518G>T
c.387G>T (p.Glu129Asp)
c.357G>T (p.Glu119Asp)
n.351+5079C>A
 dbSNP gnomAD v2 gnomAD v4
22g.36865015C>ACA411379264NCF4,NCF4-AS1c.214C>A (p.Arg72Ser)
c.-96C>A (n.-96C>A)
n.519C>A
c.388C>A (p.Arg130Ser)
c.358C>A (p.Arg120Ser)
n.351+5078G>T
 COSMIC COSMIC
22g.36865015C=CA2404070877NCF4,NCF4-AS1c.214C= (p.Arg72=)
c.-96C= (n.-96C=)
n.519C=
c.388C= (p.Arg130=)
c.358C= (p.Arg120=)
n.351+5078G=
22g.36865015C>GCA411379263NCF4,NCF4-AS1c.214C>G (p.Arg72Gly)
c.-96C>G (n.-96C>G)
n.519C>G
c.388C>G (p.Arg130Gly)
c.358C>G (p.Arg120Gly)
n.351+5078G>C
22g.36865015C>TCA10212887NCF4,NCF4-AS1c.214C>T (p.Arg72Cys)
c.-96C>T (n.-96C>T)
n.519C>T
c.388C>T (p.Arg130Cys)
c.358C>T (p.Arg120Cys)
n.351+5078G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36865016G>ACA411379267NCF4,NCF4-AS1c.215G>A (p.Arg72His)
c.-95G>A (n.-95G>A)
n.520G>A
c.389G>A (p.Arg130His)
c.359G>A (p.Arg120His)
n.351+5077C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.36865016G>CCA411379268NCF4,NCF4-AS1c.215G>C (p.Arg72Pro)
c.-95G>C (n.-95G>C)
n.520G>C
c.389G>C (p.Arg130Pro)
c.359G>C (p.Arg120Pro)
n.351+5077C>G
22g.36865016G=CA2404070878NCF4,NCF4-AS1c.215G= (p.Arg72=)
c.-95G= (n.-95G=)
n.520G=
c.389G= (p.Arg130=)
c.359G= (p.Arg120=)
n.351+5077C=
22g.36865016G>TCA411379270NCF4,NCF4-AS1c.215G>T (p.Arg72Leu)
c.-95G>T (n.-95G>T)
n.520G>T
c.389G>T (p.Arg130Leu)
c.359G>T (p.Arg120Leu)
n.351+5077C>A
 dbSNP gnomAD v2 gnomAD v4
22g.36865017C>ACA514363540NCF4,NCF4-AS1c.216C>A (p.Arg72=)
c.-94C>A (n.-94C>A)
n.521C>A
c.390C>A (p.Arg130=)
c.360C>A (p.Arg120=)
n.351+5076G>T
22g.36865017C>GCA514363539NCF4,NCF4-AS1c.216C>G (p.Arg72=)
c.-94C>G (n.-94C>G)
n.521C>G
c.390C>G (p.Arg130=)
c.360C>G (p.Arg120=)
n.351+5076G>C
22g.36865017C>TCA514363538NCF4,NCF4-AS1c.216C>T (p.Arg72=)
c.-94C>T (n.-94C>T)
n.521C>T
c.390C>T (p.Arg130=)
c.360C>T (p.Arg120=)
n.351+5076G>A
 gnomAD v4
22g.36865018T>ACA411379272NCF4,NCF4-AS1c.217T>A (p.Phe73Ile)
c.-93T>A (n.-93T>A)
n.522T>A
c.391T>A (p.Phe131Ile)
c.361T>A (p.Phe121Ile)
n.351+5075A>T
22g.36865018T>CCA411379274NCF4,NCF4-AS1c.217T>C (p.Phe73Leu)
c.-93T>C (n.-93T>C)
n.522T>C
c.391T>C (p.Phe131Leu)
c.361T>C (p.Phe121Leu)
n.351+5075A>G
 dbSNP gnomAD v2 gnomAD v4
22g.36865018T>GCA411379277NCF4,NCF4-AS1c.217T>G (p.Phe73Val)
c.-93T>G (n.-93T>G)
n.522T>G
c.391T>G (p.Phe131Val)
c.361T>G (p.Phe121Val)
n.351+5075A>C
 ClinVar dbSNP
22g.36865018T=CA2404070879NCF4,NCF4-AS1c.217T= (p.Phe73=)
c.-93T= (n.-93T=)
n.522T=
c.391T= (p.Phe131=)
c.361T= (p.Phe121=)
n.351+5075A=
22g.36865019T>ACA411379281NCF4,NCF4-AS1c.218T>A (p.Phe73Tyr)
c.-92T>A (n.-92T>A)
n.523T>A
c.392T>A (p.Phe131Tyr)
c.362T>A (p.Phe121Tyr)
n.351+5074A>T
22g.36865019T>CCA411379283NCF4,NCF4-AS1c.218T>C (p.Phe73Ser)
c.-92T>C (n.-92T>C)
n.523T>C
c.392T>C (p.Phe131Ser)
c.362T>C (p.Phe121Ser)
n.351+5074A>G
22g.36865019T>GCA411379279NCF4,NCF4-AS1c.218T>G (p.Phe73Cys)
c.-92T>G (n.-92T>G)
n.523T>G
c.392T>G (p.Phe131Cys)
c.362T>G (p.Phe121Cys)
n.351+5074A>C
22g.36865020C>ACA411379286NCF4,NCF4-AS1c.219C>A (p.Phe73Leu)
c.-91C>A (n.-91C>A)
n.524C>A
c.393C>A (p.Phe131Leu)
c.363C>A (p.Phe121Leu)
n.351+5073G>T
22g.36865020C=CA2404070880NCF4,NCF4-AS1c.219C= (p.Phe73=)
c.-91C= (n.-91C=)
n.524C=
c.393C= (p.Phe131=)
c.363C= (p.Phe121=)
n.351+5073G=
22g.36865020C>GCA411379285NCF4,NCF4-AS1c.219C>G (p.Phe73Leu)
c.-91C>G (n.-91C>G)
n.524C>G
c.393C>G (p.Phe131Leu)
c.363C>G (p.Phe121Leu)
n.351+5073G>C
22g.36865020C>TCA10212888NCF4,NCF4-AS1c.219C>T (p.Phe73=)
c.-91C>T (n.-91C>T)
n.524C>T
c.393C>T (p.Phe131=)
c.363C>T (p.Phe121=)
n.351+5073G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36865021G>ACA10212889NCF4,NCF4-AS1c.220G>A (p.Gly74Arg)
c.-90G>A (n.-90G>A)
n.525G>A
c.394G>A (p.Gly132Arg)
c.364G>A (p.Gly122Arg)
n.351+5072C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36865021G>CCA323985750NCF4,NCF4-AS1c.220G>C (p.Gly74Arg)
c.-90G>C (n.-90G>C)
n.525G>C
c.394G>C (p.Gly132Arg)
c.364G>C (p.Gly122Arg)
n.351+5072C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.36865021G=CA2404070881NCF4,NCF4-AS1c.220G= (p.Gly74=)
c.-90G= (n.-90G=)
n.525G=
c.394G= (p.Gly132=)
c.364G= (p.Gly122=)
n.351+5072C=
22g.36865021G>TCA411379287NCF4,NCF4-AS1c.220G>T (p.Gly74Trp)
c.-90G>T (n.-90G>T)
n.525G>T
c.394G>T (p.Gly132Trp)
c.364G>T (p.Gly122Trp)
n.351+5072C>A
 gnomAD v4
22g.36865022G>ACA411379289NCF4,NCF4-AS1c.221G>A (p.Gly74Glu)
c.-89G>A (n.-89G>A)
n.526G>A
c.395G>A (p.Gly132Glu)
c.365G>A (p.Gly122Glu)
n.351+5071C>T
22g.36865022G>CCA411379292NCF4,NCF4-AS1c.221G>C (p.Gly74Ala)
c.-89G>C (n.-89G>C)
n.526G>C
c.395G>C (p.Gly132Ala)
c.365G>C (p.Gly122Ala)
n.351+5071C>G
22g.36865022G>TCA411379291NCF4,NCF4-AS1c.221G>T (p.Gly74Val)
c.-89G>T (n.-89G>T)
n.526G>T
c.395G>T (p.Gly132Val)
c.365G>T (p.Gly122Val)
n.351+5071C>A
22g.36865023G>ACA10212890NCF4,NCF4-AS1c.222G>A (p.Gly74=)
c.-88G>A (n.-88G>A)
n.527G>A
c.396G>A (p.Gly132=)
c.366G>A (p.Gly122=)
n.351+5070C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.36865023G>CCA514363572NCF4,NCF4-AS1c.222G>C (p.Gly74=)
c.-88G>C (n.-88G>C)
n.527G>C
c.396G>C (p.Gly132=)
c.366G>C (p.Gly122=)
n.351+5070C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.36865023G=CA2404070882NCF4,NCF4-AS1c.222G= (p.Gly74=)
c.-88G= (n.-88G=)
n.527G=
c.396G= (p.Gly132=)
c.366G= (p.Gly122=)
n.351+5070C=
22g.36865023G>TCA10212891NCF4,NCF4-AS1c.222G>T (p.Gly74=)
c.-88G>T (n.-88G>T)
n.527G>T
c.396G>T (p.Gly132=)
c.366G>T (p.Gly122=)
n.351+5070C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.36865024C>ACA411379296NCF4,NCF4-AS1c.223C>A (p.Pro75Thr)
c.-87C>A (n.-87C>A)
n.528C>A
c.397C>A (p.Pro133Thr)
c.367C>A (p.Pro123Thr)
n.351+5069G>T
22g.36865024C>GCA411379300NCF4,NCF4-AS1c.223C>G (p.Pro75Ala)
c.-87C>G (n.-87C>G)
n.528C>G
c.397C>G (p.Pro133Ala)
c.367C>G (p.Pro123Ala)
n.351+5069G>C
22g.36865024C>TCA411379298NCF4,NCF4-AS1c.223C>T (p.Pro75Ser)
c.-87C>T (n.-87C>T)
n.528C>T
c.397C>T (p.Pro133Ser)
c.367C>T (p.Pro123Ser)
n.351+5069G>A
 gnomAD v4
22g.36865025C>ACA411379302NCF4,NCF4-AS1c.224C>A (p.Pro75Gln)
c.-86C>A (n.-86C>A)
n.529C>A
c.398C>A (p.Pro133Gln)
c.368C>A (p.Pro123Gln)
n.351+5068G>T
22g.36865025C>GCA411379304NCF4,NCF4-AS1c.224C>G (p.Pro75Arg)
c.-86C>G (n.-86C>G)
n.529C>G
c.398C>G (p.Pro133Arg)
c.368C>G (p.Pro123Arg)
n.351+5068G>C
22g.36865025C>TCA411379306NCF4,NCF4-AS1c.224C>T (p.Pro75Leu)
c.-86C>T (n.-86C>T)
n.529C>T
c.398C>T (p.Pro133Leu)
c.368C>T (p.Pro123Leu)
n.351+5068G>A
22g.36865026A=CA2404070883NCF4,NCF4-AS1c.225A= (p.Pro75=)
c.-85A= (n.-85A=)
n.530A=
c.399A= (p.Pro133=)
c.369A= (p.Pro123=)
n.351+5067T=
22g.36865026A>CCA514363595NCF4,NCF4-AS1c.225A>C (p.Pro75=)
c.-85A>C (n.-85A>C)
n.530A>C
c.399A>C (p.Pro133=)
c.369A>C (p.Pro123=)
n.351+5067T>G
22g.36865026A>GCA10212892NCF4,NCF4-AS1c.225A>G (p.Pro75=)
c.-85A>G (n.-85A>G)
n.530A>G
c.399A>G (p.Pro133=)
c.369A>G (p.Pro123=)
n.351+5067T>C
 dbSNP ExAC gnomAD v2
22g.36865026A>TCA514363591NCF4,NCF4-AS1c.225A>T (p.Pro75=)
c.-85A>T (n.-85A>T)
n.530A>T
c.399A>T (p.Pro133=)
c.369A>T (p.Pro123=)
n.351+5067T>A

Number of alleles fetched