Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.49061734_49061737dupCA633890021NTF4c.263_266dup (p.Arg90GlufsTer5)
c.293_296dup (p.Arg100GlufsTer5)
n.308_311dup
n.263_266dup (p.Arg90GlufsTer5)
c.243+20_243+23dup (p.=)
dbSNP gnomAD
19g.49061735G>ACA123705NTF4c.263C>T (p.Ala88Val)
c.293C>T (p.Ala98Val)
n.308C>T
n.263C>T (p.Ala88Val)
c.243+20C>T (p.=)
ClinVar dbSNP ExAC gnomAD
19g.49061735G>CCA406806713NTF4c.263C>G (p.Ala88Gly)
c.293C>G (p.Ala98Gly)
n.308C>G
n.263C>G (p.Ala88Gly)
c.243+20C>G (p.=)
19g.49061735G>TCA406806715NTF4c.263C>A (p.Ala88Glu)
c.293C>A (p.Ala98Glu)
n.308C>A
n.263C>A (p.Ala88Glu)
c.243+20C>A (p.=)
19g.49061736C>ACA406806718NTF4c.262G>T (p.Ala88Ser)
c.292G>T (p.Ala98Ser)
n.307G>T
n.262G>T (p.Ala88Ser)
c.243+19G>T (p.=)
19g.49061736C>GCA406806721NTF4c.262G>C (p.Ala88Pro)
c.292G>C (p.Ala98Pro)
n.307G>C
n.262G>C (p.Ala88Pro)
c.243+19G>C (p.=)
19g.49061736C>TCA406806719NTF4c.262G>A (p.Ala88Thr)
c.292G>A (p.Ala98Thr)
n.307G>A
n.262G>A (p.Ala88Thr)
c.243+19G>A (p.=)
19g.49061737T>ACA508279102NTF4c.261A>T (p.Pro87=)
c.291A>T (p.Pro97=)
n.306A>T
n.261A>T (p.Pro87=)
c.243+18A>T (p.=)
19g.49061737T>CCA508279100NTF4c.261A>G (p.Pro87=)
c.291A>G (p.Pro97=)
n.306A>G
n.261A>G (p.Pro87=)
c.243+18A>G (p.=)
19g.49061737T>GCA508279101NTF4c.261A>C (p.Pro87=)
c.291A>C (p.Pro97=)
n.306A>C
n.261A>C (p.Pro87=)
c.243+18A>C (p.=)
19g.49061738G>ACA406806724NTF4c.260C>T (p.Pro87Leu)
c.290C>T (p.Pro97Leu)
n.305C>T
n.260C>T (p.Pro87Leu)
c.243+17C>T (p.=)
19g.49061738G>CCA406806725NTF4c.260C>G (p.Pro87Arg)
c.290C>G (p.Pro97Arg)
n.305C>G
n.260C>G (p.Pro87Arg)
c.243+17C>G (p.=)
19g.49061738G>TCA9565686NTF4c.260C>A (p.Pro87Gln)
c.290C>A (p.Pro97Gln)
n.305C>A
n.260C>A (p.Pro87Gln)
c.243+17C>A (p.=)
dbSNP ExAC gnomAD
19g.49061739G>ACA406806728NTF4c.259C>T (p.Pro87Ser)
c.289C>T (p.Pro97Ser)
n.304C>T
n.259C>T (p.Pro87Ser)
c.243+16C>T (p.=)
19g.49061739G>CCA406806730NTF4c.259C>G (p.Pro87Ala)
c.289C>G (p.Pro97Ala)
n.304C>G
n.259C>G (p.Pro87Ala)
c.243+16C>G (p.=)
19g.49061739G>TCA406806732NTF4c.259C>A (p.Pro87Thr)
c.289C>A (p.Pro97Thr)
n.304C>A
n.259C>A (p.Pro87Thr)
c.243+16C>A (p.=)
19g.49061740T>ACA508279104NTF4c.258A>T (p.Ala86=)
c.288A>T (p.Ala96=)
n.303A>T
n.258A>T (p.Ala86=)
c.243+15A>T (p.=)
19g.49061740T>CCA9565687NTF4c.258A>G (p.Ala86=)
c.288A>G (p.Ala96=)
n.303A>G
n.258A>G (p.Ala86=)
c.243+15A>G (p.=)
dbSNP ExAC gnomAD
19g.49061740T>GCA508279105NTF4c.258A>C (p.Ala86=)
c.288A>C (p.Ala96=)
n.303A>C
n.258A>C (p.Ala86=)
c.243+15A>C (p.=)
19g.49061741G>ACA406806737NTF4c.257C>T (p.Ala86Val)
c.287C>T (p.Ala96Val)
n.302C>T
n.257C>T (p.Ala86Val)
c.243+14C>T (p.=)
19g.49061741G>CCA406806738NTF4c.257C>G (p.Ala86Gly)
c.287C>G (p.Ala96Gly)
n.302C>G
n.257C>G (p.Ala86Gly)
c.243+14C>G (p.=)
19g.49061741G>TCA406806739NTF4c.257C>A (p.Ala86Glu)
c.287C>A (p.Ala96Glu)
n.302C>A
n.257C>A (p.Ala86Glu)
c.243+14C>A (p.=)
19g.49061742C>ACA309446904NTF4c.256G>T (p.Ala86Ser)
c.286G>T (p.Ala96Ser)
n.301G>T
n.256G>T (p.Ala86Ser)
c.243+13G>T (p.=)
dbSNP gnomAD
19g.49061742C>GCA406806744NTF4c.256G>C (p.Ala86Pro)
c.286G>C (p.Ala96Pro)
n.301G>C
n.256G>C (p.Ala86Pro)
c.243+13G>C (p.=)
19g.49061742C>TCA406806742NTF4c.256G>A (p.Ala86Thr)
c.286G>A (p.Ala96Thr)
n.301G>A
n.256G>A (p.Ala86Thr)
c.243+13G>A (p.=)
19g.49061743A>CCA508279110NTF4c.255T>G (p.Thr85=)
c.285T>G (p.Thr95=)
n.300T>G
n.255T>G (p.Thr85=)
c.243+12T>G (p.=)
19g.49061743A>GCA508279108NTF4c.255T>C (p.Thr85=)
c.285T>C (p.Thr95=)
n.300T>C
n.255T>C (p.Thr85=)
c.243+12T>C (p.=)
19g.49061743A>TCA508279109NTF4c.255T>A (p.Thr85=)
c.285T>A (p.Thr95=)
n.300T>A
n.255T>A (p.Thr85=)
c.243+12T>A (p.=)
19g.49061744G>ACA406806746NTF4c.254C>T (p.Thr85Ile)
c.284C>T (p.Thr95Ile)
n.299C>T
n.254C>T (p.Thr85Ile)
c.243+11C>T (p.=)
19g.49061744G>CCA406806747NTF4c.254C>G (p.Thr85Ser)
c.284C>G (p.Thr95Ser)
n.299C>G
n.254C>G (p.Thr85Ser)
c.243+11C>G (p.=)
19g.49061744G>TCA406806748NTF4c.254C>A (p.Thr85Asn)
c.284C>A (p.Thr95Asn)
n.299C>A
n.254C>A (p.Thr85Asn)
c.243+11C>A (p.=)
19g.49061745T>ACA406806750NTF4c.253A>T (p.Thr85Ser)
c.283A>T (p.Thr95Ser)
n.298A>T
n.253A>T (p.Thr85Ser)
c.243+10A>T (p.=)
19g.49061745T>CCA9565688NTF4c.253A>G (p.Thr85Ala)
c.283A>G (p.Thr95Ala)
n.298A>G
n.253A>G (p.Thr85Ala)
c.243+10A>G (p.=)
dbSNP ExAC gnomAD
19g.49061745T>GCA406806751NTF4c.253A>C (p.Thr85Pro)
c.283A>C (p.Thr95Pro)
n.298A>C
n.253A>C (p.Thr85Pro)
c.243+10A>C (p.=)
19g.49061746T>ACA406806753NTF4c.252A>T (p.Glu84Asp)
c.282A>T (p.Glu94Asp)
n.297A>T
n.252A>T (p.Glu84Asp)
c.243+9A>T (p.=)
19g.49061746T>CCA508279114NTF4c.252A>G (p.Glu84=)
c.282A>G (p.Glu94=)
n.297A>G
n.252A>G (p.Glu84=)
c.243+9A>G (p.=)
19g.49061746T>GCA406806755NTF4c.252A>C (p.Glu84Asp)
c.282A>C (p.Glu94Asp)
n.297A>C
n.252A>C (p.Glu84Asp)
c.243+9A>C (p.=)
19g.49061747T>ACA406806758NTF4c.251A>T (p.Glu84Val)
c.281A>T (p.Glu94Val)
n.296A>T
n.251A>T (p.Glu84Val)
c.243+8A>T (p.=)
19g.49061747T>CCA406806760NTF4c.251A>G (p.Glu84Gly)
c.281A>G (p.Glu94Gly)
n.296A>G
n.251A>G (p.Glu84Gly)
c.243+8A>G (p.=)
19g.49061747T>GCA406806761NTF4c.251A>C (p.Glu84Ala)
c.281A>C (p.Glu94Ala)
n.296A>C
n.251A>C (p.Glu84Ala)
c.243+8A>C (p.=)
19g.49061748C>ACA406806763NTF4c.250G>T (p.Glu84Ter)
c.280G>T (p.Glu94Ter)
n.295G>T
n.250G>T (p.Glu84Ter)
c.243+7G>T (p.=)
19g.49061748C>GCA406806764NTF4c.250G>C (p.Glu84Gln)
c.280G>C (p.Glu94Gln)
n.295G>C
n.250G>C (p.Glu84Gln)
c.243+7G>C (p.=)
19g.49061748C>TCA9565689NTF4c.250G>A (p.Glu84Lys)
c.280G>A (p.Glu94Lys)
n.295G>A
n.250G>A (p.Glu84Lys)
c.243+7G>A (p.=)
dbSNP ExAC gnomAD COSMIC
19g.49061749G>ACA9565690NTF4c.249C>T (p.Ser83=)
c.279C>T (p.Ser93=)
n.294C>T
n.249C>T (p.Ser83=)
c.243+6C>T (p.=)
dbSNP ExAC gnomAD
19g.49061749G>CCA406806767NTF4c.249C>G (p.Ser83Arg)
c.279C>G (p.Ser93Arg)
n.294C>G
n.249C>G (p.Ser83Arg)
c.243+6C>G (p.=)
19g.49061749G>TCA406806768NTF4c.249C>A (p.Ser83Arg)
c.279C>A (p.Ser93Arg)
n.294C>A
n.249C>A (p.Ser83Arg)
c.243+6C>A (p.=)
19g.49061750C>ACA406806770NTF4c.248G>T (p.Ser83Ile)
c.278G>T (p.Ser93Ile)
n.293G>T
n.248G>T (p.Ser83Ile)
c.243+5G>T (p.=)
19g.49061750C>GCA309446916NTF4c.248G>C (p.Ser83Thr)
c.278G>C (p.Ser93Thr)
n.293G>C
n.248G>C (p.Ser83Thr)
c.243+5G>C (p.=)
dbSNP
19g.49061750C>TCA406806772NTF4c.248G>A (p.Ser83Asn)
c.278G>A (p.Ser93Asn)
n.293G>A
n.248G>A (p.Ser83Asn)
c.243+5G>A (p.=)
gnomAD
19g.49061751T>ACA406806774NTF4c.247A>T (p.Ser83Cys)
c.277A>T (p.Ser93Cys)
n.292A>T
n.247A>T (p.Ser83Cys)
c.243+4A>T (p.=)

Number of alleles fetched