Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.49061542C>ACA508278990NTF4c.456G>T (p.Gly152=)
c.243+213G>T (n.243+213G>T)
c.486G>T (p.Gly162=)
n.501G>T
19g.49061542C>GCA508278994NTF4c.456G>C (p.Gly152=)
c.243+213G>C (n.243+213G>C)
c.486G>C (p.Gly162=)
n.501G>C
19g.49061542C>TCA508278991NTF4c.456G>A (p.Gly152=)
c.243+213G>A (n.243+213G>A)
c.486G>A (p.Gly162=)
n.501G>A
 gnomAD v4
19g.49061543C>ACA406805592NTF4c.455G>T (p.Gly152Val)
c.243+212G>T (n.243+212G>T)
c.485G>T (p.Gly162Val)
n.500G>T
19g.49061543C=CA2340217326NTF4c.455G= (p.Gly152=)
c.243+212G= (n.243+212G=)
c.485G= (p.Gly162=)
n.500G=
19g.49061543C>GCA406805596NTF4c.455G>C (p.Gly152Ala)
c.243+212G>C (n.243+212G>C)
c.485G>C (p.Gly162Ala)
n.500G>C
19g.49061543C>TCA406805598NTF4c.455G>A (p.Gly152Glu)
c.243+212G>A (n.243+212G>A)
c.485G>A (p.Gly162Glu)
n.500G>A
 dbSNP gnomAD v3 gnomAD v4
19g.49061544C>ACA406805601NTF4c.454G>T (p.Gly152Trp)
c.243+211G>T (n.243+211G>T)
c.484G>T (p.Gly162Trp)
n.499G>T
19g.49061544C>GCA406805609NTF4c.454G>C (p.Gly152Arg)
c.243+211G>C (n.243+211G>C)
c.484G>C (p.Gly162Arg)
n.499G>C
19g.49061544C>TCA406805612NTF4c.454G>A (p.Gly152Arg)
c.243+211G>A (n.243+211G>A)
c.484G>A (p.Gly162Arg)
n.499G>A
19g.49061545C>ACA508279001NTF4c.453G>T (p.Pro151=)
c.243+210G>T (n.243+210G>T)
c.483G>T (p.Pro161=)
n.498G>T
 dbSNP gnomAD v2 gnomAD v4
19g.49061545C=CA2340217327NTF4c.453G= (p.Pro151=)
c.243+210G= (n.243+210G=)
c.483G= (p.Pro161=)
n.498G=
19g.49061545C>GCA309446642NTF4c.453G>C (p.Pro151=)
c.243+210G>C (n.243+210G>C)
c.483G>C (p.Pro161=)
n.498G>C
 dbSNP gnomAD v4
19g.49061545C>TCA9565631NTF4c.453G>A (p.Pro151=)
c.243+210G>A (n.243+210G>A)
c.483G>A (p.Pro161=)
n.498G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49061546G>ACA9565632NTF4c.452C>T (p.Pro151Leu)
c.243+209C>T (n.243+209C>T)
c.482C>T (p.Pro161Leu)
n.497C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49061546G>CCA406805630NTF4c.452C>G (p.Pro151Arg)
c.243+209C>G (n.243+209C>G)
c.482C>G (p.Pro161Arg)
n.497C>G
 dbSNP gnomAD v4
19g.49061546G=CA2340217328NTF4c.452C= (p.Pro151=)
c.243+209C= (n.243+209C=)
c.482C= (p.Pro161=)
n.497C=
19g.49061546G>TCA406805632NTF4c.452C>A (p.Pro151Gln)
c.243+209C>A (n.243+209C>A)
c.482C>A (p.Pro161Gln)
n.497C>A
19g.49061548dupCA633889999NTF4c.452dup (p.Ala153GlyfsTer17)
c.243+209dup (n.243+209dup)
c.482dup (p.Ala163GlyfsTer17)
n.497dup
 gnomAD v2
19g.49061547G>ACA406805640NTF4c.451C>T (p.Pro151Ser)
c.243+208C>T (n.243+208C>T)
c.481C>T (p.Pro161Ser)
n.496C>T
 dbSNP
19g.49061547G>CCA406805637NTF4c.451C>G (p.Pro151Ala)
c.243+208C>G (n.243+208C>G)
c.481C>G (p.Pro161Ala)
n.496C>G
19g.49061547G=CA2340217329NTF4c.451C= (p.Pro151=)
c.243+208C= (n.243+208C=)
c.481C= (p.Pro161=)
n.496C=
19g.49061547G>TCA406805635NTF4c.451C>A (p.Pro151Thr)
c.243+208C>A (n.243+208C>A)
c.481C>A (p.Pro161Thr)
n.496C>A
19g.49061548G>ACA508279003NTF4c.450C>T (p.Gly150=)
c.243+207C>T (n.243+207C>T)
c.480C>T (p.Gly160=)
n.495C>T
19g.49061548G>CCA508279006NTF4c.450C>G (p.Gly150=)
c.243+207C>G (n.243+207C>G)
c.480C>G (p.Gly160=)
n.495C>G
19g.49061548G>TCA508279004NTF4c.450C>A (p.Gly150=)
c.243+207C>A (n.243+207C>A)
c.480C>A (p.Gly160=)
n.495C>A
19g.49061549C>ACA406805643NTF4c.449G>T (p.Gly150Val)
c.243+206G>T (n.243+206G>T)
c.479G>T (p.Gly160Val)
n.494G>T
19g.49061549C>GCA406805644NTF4c.449G>C (p.Gly150Ala)
c.243+206G>C (n.243+206G>C)
c.479G>C (p.Gly160Ala)
n.494G>C
19g.49061549C>TCA406805645NTF4c.449G>A (p.Gly150Asp)
c.243+206G>A (n.243+206G>A)
c.479G>A (p.Gly160Asp)
n.494G>A
 gnomAD v4
19g.49061550C>ACA406805648NTF4c.448G>T (p.Gly150Cys)
c.243+205G>T (n.243+205G>T)
c.478G>T (p.Gly160Cys)
n.493G>T
19g.49061550C>GCA406805650NTF4c.448G>C (p.Gly150Arg)
c.243+205G>C (n.243+205G>C)
c.478G>C (p.Gly160Arg)
n.493G>C
19g.49061550C>TCA406805653NTF4c.448G>A (p.Gly150Ser)
c.243+205G>A (n.243+205G>A)
c.478G>A (p.Gly160Ser)
n.493G>A
 gnomAD v4
19g.49061551A=CA2340217330NTF4c.447T= (p.Gly149=)
c.243+204T= (n.243+204T=)
c.477T= (p.Gly159=)
n.492T=
19g.49061551A>CCA508279009NTF4c.447T>G (p.Gly149=)
c.243+204T>G (n.243+204T>G)
c.477T>G (p.Gly159=)
n.492T>G
 dbSNP
19g.49061551A>GCA508279011NTF4c.447T>C (p.Gly149=)
c.243+204T>C (n.243+204T>C)
c.477T>C (p.Gly159=)
n.492T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.49061551A>TCA508279012NTF4c.447T>A (p.Gly149=)
c.243+204T>A (n.243+204T>A)
c.477T>A (p.Gly159=)
n.492T>A
19g.49061552C>ACA406805660NTF4c.446G>T (p.Gly149Val)
c.243+203G>T (n.243+203G>T)
c.476G>T (p.Gly159Val)
n.491G>T
19g.49061552C=CA2340217331NTF4c.446G= (p.Gly149=)
c.243+203G= (n.243+203G=)
c.476G= (p.Gly159=)
n.491G=
19g.49061552C>GCA406805661NTF4c.446G>C (p.Gly149Ala)
c.243+203G>C (n.243+203G>C)
c.476G>C (p.Gly159Ala)
n.491G>C
19g.49061552C>TCA406805663NTF4c.446G>A (p.Gly149Asp)
c.243+203G>A (n.243+203G>A)
c.476G>A (p.Gly159Asp)
n.491G>A
 dbSNP gnomAD v3 gnomAD v4
19g.49061553C>ACA406805665NTF4c.445G>T (p.Gly149Cys)
c.243+202G>T (n.243+202G>T)
c.475G>T (p.Gly159Cys)
n.490G>T
19g.49061553C>GCA406805669NTF4c.445G>C (p.Gly149Arg)
c.243+202G>C (n.243+202G>C)
c.475G>C (p.Gly159Arg)
n.490G>C
19g.49061553C>TCA406805672NTF4c.445G>A (p.Gly149Ser)
c.243+202G>A (n.243+202G>A)
c.475G>A (p.Gly159Ser)
n.490G>A
19g.49061554T>ACA406805676NTF4c.444A>T (p.Glu148Asp)
c.243+201A>T (n.243+201A>T)
c.474A>T (p.Glu158Asp)
n.489A>T
19g.49061554T>CCA508279016NTF4c.444A>G (p.Glu148=)
c.243+201A>G (n.243+201A>G)
c.474A>G (p.Glu158=)
n.489A>G
19g.49061554T>GCA406805675NTF4c.444A>C (p.Glu148Asp)
c.243+201A>C (n.243+201A>C)
c.474A>C (p.Glu158Asp)
n.489A>C
19g.49061555T>ACA406805681NTF4c.443A>T (p.Glu148Val)
c.243+200A>T (n.243+200A>T)
c.473A>T (p.Glu158Val)
n.488A>T
19g.49061555T>CCA406805682NTF4c.443A>G (p.Glu148Gly)
c.243+200A>G (n.243+200A>G)
c.473A>G (p.Glu158Gly)
n.488A>G
19g.49061555T>GCA406805686NTF4c.443A>C (p.Glu148Ala)
c.243+200A>C (n.243+200A>C)
c.473A>C (p.Glu158Ala)
n.488A>C
19g.49061556C>ACA406805689NTF4c.442G>T (p.Glu148Ter)
c.243+199G>T (n.243+199G>T)
c.472G>T (p.Glu158Ter)
n.487G>T

Number of alleles fetched