Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49061539T>A | CA508278984 | NTF4 | c.459A>T (p.Ala153=) c.243+216A>T (n.243+216A>T) c.489A>T (p.Ala163=) n.504A>T | |
19 | g.49061539T>C | CA508278985 | NTF4 | c.459A>G (p.Ala153=) c.243+216A>G (n.243+216A>G) c.489A>G (p.Ala163=) n.504A>G | |
19 | g.49061539T>G | CA508278986 | NTF4 | c.459A>C (p.Ala153=) c.243+216A>C (n.243+216A>C) c.489A>C (p.Ala163=) n.504A>C | |
19 | g.49061540G>A | CA9565629 | NTF4 | c.458C>T (p.Ala153Val) c.243+215C>T (n.243+215C>T) c.488C>T (p.Ala163Val) n.503C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061540G>C | CA406805576 | NTF4 | c.458C>G (p.Ala153Gly) c.243+215C>G (n.243+215C>G) c.488C>G (p.Ala163Gly) n.503C>G | |
19 | g.49061540G= | CA2340217324 | NTF4 | c.458C= (p.Ala153=) c.243+215C= (n.243+215C=) c.488C= (p.Ala163=) n.503C= | |
19 | g.49061540G>T | CA406805574 | NTF4 | c.458C>A (p.Ala153Glu) c.243+215C>A (n.243+215C>A) c.488C>A (p.Ala163Glu) n.503C>A | |
19 | g.49061541C>A | CA406805581 | NTF4 | c.457G>T (p.Ala153Ser) c.243+214G>T (n.243+214G>T) c.487G>T (p.Ala163Ser) n.502G>T | |
19 | g.49061541C= | CA2340217325 | NTF4 | c.457G= (p.Ala153=) c.243+214G= (n.243+214G=) c.487G= (p.Ala163=) n.502G= | |
19 | g.49061541C>G | CA406805587 | NTF4 | c.457G>C (p.Ala153Pro) c.243+214G>C (n.243+214G>C) c.487G>C (p.Ala163Pro) n.502G>C | gnomAD v4 |
19 | g.49061541C>T | CA9565630 | NTF4 | c.457G>A (p.Ala153Thr) c.243+214G>A (n.243+214G>A) c.487G>A (p.Ala163Thr) n.502G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061542C>A | CA508278990 | NTF4 | c.456G>T (p.Gly152=) c.243+213G>T (n.243+213G>T) c.486G>T (p.Gly162=) n.501G>T | |
19 | g.49061542C>G | CA508278994 | NTF4 | c.456G>C (p.Gly152=) c.243+213G>C (n.243+213G>C) c.486G>C (p.Gly162=) n.501G>C | |
19 | g.49061542C>T | CA508278991 | NTF4 | c.456G>A (p.Gly152=) c.243+213G>A (n.243+213G>A) c.486G>A (p.Gly162=) n.501G>A | gnomAD v4 |
19 | g.49061543C>A | CA406805592 | NTF4 | c.455G>T (p.Gly152Val) c.243+212G>T (n.243+212G>T) c.485G>T (p.Gly162Val) n.500G>T | |
19 | g.49061543C= | CA2340217326 | NTF4 | c.455G= (p.Gly152=) c.243+212G= (n.243+212G=) c.485G= (p.Gly162=) n.500G= | |
19 | g.49061543C>G | CA406805596 | NTF4 | c.455G>C (p.Gly152Ala) c.243+212G>C (n.243+212G>C) c.485G>C (p.Gly162Ala) n.500G>C | |
19 | g.49061543C>T | CA406805598 | NTF4 | c.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 |
19 | g.49061544C>A | CA406805601 | NTF4 | c.454G>T (p.Gly152Trp) c.243+211G>T (n.243+211G>T) c.484G>T (p.Gly162Trp) n.499G>T | |
19 | g.49061544C>G | CA406805609 | NTF4 | c.454G>C (p.Gly152Arg) c.243+211G>C (n.243+211G>C) c.484G>C (p.Gly162Arg) n.499G>C | |
19 | g.49061544C>T | CA406805612 | NTF4 | c.454G>A (p.Gly152Arg) c.243+211G>A (n.243+211G>A) c.484G>A (p.Gly162Arg) n.499G>A | |
19 | g.49061545C>A | CA508279001 | NTF4 | c.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 |
19 | g.49061545C= | CA2340217327 | NTF4 | c.453G= (p.Pro151=) c.243+210G= (n.243+210G=) c.483G= (p.Pro161=) n.498G= | |
19 | g.49061545C>G | CA309446642 | NTF4 | c.453G>C (p.Pro151=) c.243+210G>C (n.243+210G>C) c.483G>C (p.Pro161=) n.498G>C | dbSNP gnomAD v4 |
19 | g.49061545C>T | CA9565631 | NTF4 | c.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 |
19 | g.49061546G>A | CA9565632 | NTF4 | c.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 |
19 | g.49061546G>C | CA406805630 | NTF4 | c.452C>G (p.Pro151Arg) c.243+209C>G (n.243+209C>G) c.482C>G (p.Pro161Arg) n.497C>G | dbSNP gnomAD v4 |
19 | g.49061546G= | CA2340217328 | NTF4 | c.452C= (p.Pro151=) c.243+209C= (n.243+209C=) c.482C= (p.Pro161=) n.497C= | |
19 | g.49061546G>T | CA406805632 | NTF4 | c.452C>A (p.Pro151Gln) c.243+209C>A (n.243+209C>A) c.482C>A (p.Pro161Gln) n.497C>A | |
19 | g.49061548dup | CA633889999 | NTF4 | c.452dup (p.Ala153GlyfsTer17) c.243+209dup (n.243+209dup) c.482dup (p.Ala163GlyfsTer17) n.497dup | gnomAD v2 |
19 | g.49061547G>A | CA406805640 | NTF4 | c.451C>T (p.Pro151Ser) c.243+208C>T (n.243+208C>T) c.481C>T (p.Pro161Ser) n.496C>T | dbSNP |
19 | g.49061547G>C | CA406805637 | NTF4 | c.451C>G (p.Pro151Ala) c.243+208C>G (n.243+208C>G) c.481C>G (p.Pro161Ala) n.496C>G | |
19 | g.49061547G= | CA2340217329 | NTF4 | c.451C= (p.Pro151=) c.243+208C= (n.243+208C=) c.481C= (p.Pro161=) n.496C= | |
19 | g.49061547G>T | CA406805635 | NTF4 | c.451C>A (p.Pro151Thr) c.243+208C>A (n.243+208C>A) c.481C>A (p.Pro161Thr) n.496C>A | |
19 | g.49061548G>A | CA508279003 | NTF4 | c.450C>T (p.Gly150=) c.243+207C>T (n.243+207C>T) c.480C>T (p.Gly160=) n.495C>T | |
19 | g.49061548G>C | CA508279006 | NTF4 | c.450C>G (p.Gly150=) c.243+207C>G (n.243+207C>G) c.480C>G (p.Gly160=) n.495C>G | |
19 | g.49061548G>T | CA508279004 | NTF4 | c.450C>A (p.Gly150=) c.243+207C>A (n.243+207C>A) c.480C>A (p.Gly160=) n.495C>A | |
19 | g.49061549C>A | CA406805643 | NTF4 | c.449G>T (p.Gly150Val) c.243+206G>T (n.243+206G>T) c.479G>T (p.Gly160Val) n.494G>T | |
19 | g.49061549C>G | CA406805644 | NTF4 | c.449G>C (p.Gly150Ala) c.243+206G>C (n.243+206G>C) c.479G>C (p.Gly160Ala) n.494G>C | |
19 | g.49061549C>T | CA406805645 | NTF4 | c.449G>A (p.Gly150Asp) c.243+206G>A (n.243+206G>A) c.479G>A (p.Gly160Asp) n.494G>A | gnomAD v4 |
19 | g.49061550C>A | CA406805648 | NTF4 | c.448G>T (p.Gly150Cys) c.243+205G>T (n.243+205G>T) c.478G>T (p.Gly160Cys) n.493G>T | |
19 | g.49061550C>G | CA406805650 | NTF4 | c.448G>C (p.Gly150Arg) c.243+205G>C (n.243+205G>C) c.478G>C (p.Gly160Arg) n.493G>C | |
19 | g.49061550C>T | CA406805653 | NTF4 | c.448G>A (p.Gly150Ser) c.243+205G>A (n.243+205G>A) c.478G>A (p.Gly160Ser) n.493G>A | gnomAD v4 |
19 | g.49061551A= | CA2340217330 | NTF4 | c.447T= (p.Gly149=) c.243+204T= (n.243+204T=) c.477T= (p.Gly159=) n.492T= | |
19 | g.49061551A>C | CA508279009 | NTF4 | c.447T>G (p.Gly149=) c.243+204T>G (n.243+204T>G) c.477T>G (p.Gly159=) n.492T>G | dbSNP |
19 | g.49061551A>G | CA508279011 | NTF4 | c.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 |
19 | g.49061551A>T | CA508279012 | NTF4 | c.447T>A (p.Gly149=) c.243+204T>A (n.243+204T>A) c.477T>A (p.Gly159=) n.492T>A | |
19 | g.49061552C>A | CA406805660 | NTF4 | c.446G>T (p.Gly149Val) c.243+203G>T (n.243+203G>T) c.476G>T (p.Gly159Val) n.491G>T | |
19 | g.49061552C= | CA2340217331 | NTF4 | c.446G= (p.Gly149=) c.243+203G= (n.243+203G=) c.476G= (p.Gly159=) n.491G= | |
19 | g.49061552C>G | CA406805661 | NTF4 | c.446G>C (p.Gly149Ala) c.243+203G>C (n.243+203G>C) c.476G>C (p.Gly159Ala) n.491G>C | |
19 | g.49061552C>T | CA406805663 | NTF4 | c.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 |
19 | g.49061553C>A | CA406805665 | NTF4 | c.445G>T (p.Gly149Cys) c.243+202G>T (n.243+202G>T) c.475G>T (p.Gly159Cys) n.490G>T | |
19 | g.49061553C>G | CA406805669 | NTF4 | c.445G>C (p.Gly149Arg) c.243+202G>C (n.243+202G>C) c.475G>C (p.Gly159Arg) n.490G>C | |
19 | g.49061553C>T | CA406805672 | NTF4 | c.445G>A (p.Gly149Ser) c.243+202G>A (n.243+202G>A) c.475G>A (p.Gly159Ser) n.490G>A | |
19 | g.49061554T>A | CA406805676 | NTF4 | c.444A>T (p.Glu148Asp) c.243+201A>T (n.243+201A>T) c.474A>T (p.Glu158Asp) n.489A>T | |
19 | g.49061554T>C | CA508279016 | NTF4 | c.444A>G (p.Glu148=) c.243+201A>G (n.243+201A>G) c.474A>G (p.Glu158=) n.489A>G | |
19 | g.49061554T>G | CA406805675 | NTF4 | c.444A>C (p.Glu148Asp) c.243+201A>C (n.243+201A>C) c.474A>C (p.Glu158Asp) n.489A>C | |
19 | g.49061555T>A | CA406805681 | NTF4 | c.443A>T (p.Glu148Val) c.243+200A>T (n.243+200A>T) c.473A>T (p.Glu158Val) n.488A>T | |
19 | g.49061555T>C | CA406805682 | NTF4 | c.443A>G (p.Glu148Gly) c.243+200A>G (n.243+200A>G) c.473A>G (p.Glu158Gly) n.488A>G | |
19 | g.49061555T>G | CA406805686 | NTF4 | c.443A>C (p.Glu148Ala) c.243+200A>C (n.243+200A>C) c.473A>C (p.Glu158Ala) n.488A>C | |
19 | g.49061556C>A | CA406805689 | NTF4 | c.442G>T (p.Glu148Ter) c.243+199G>T (n.243+199G>T) c.472G>T (p.Glu158Ter) n.487G>T | |
19 | g.49061556C>G | CA406805692 | NTF4 | c.442G>C (p.Glu148Gln) c.243+199G>C (n.243+199G>C) c.472G>C (p.Glu158Gln) n.487G>C | |
19 | g.49061556C>T | CA406805695 | NTF4 | c.442G>A (p.Glu148Lys) c.243+199G>A (n.243+199G>A) c.472G>A (p.Glu158Lys) n.487G>A | |
19 | g.49061557C>A | CA406805701 | NTF4 | c.441G>T (p.Glu147Asp) c.243+198G>T (n.243+198G>T) c.471G>T (p.Glu157Asp) n.486G>T | |
19 | g.49061557C>G | CA406805698 | NTF4 | c.441G>C (p.Glu147Asp) c.243+198G>C (n.243+198G>C) c.471G>C (p.Glu157Asp) n.486G>C | |
19 | g.49061557C>T | CA508279020 | NTF4 | c.441G>A (p.Glu147=) c.243+198G>A (n.243+198G>A) c.471G>A (p.Glu157=) n.486G>A | gnomAD v4 |
19 | g.49061558T>A | CA406805704 | NTF4 | c.440A>T (p.Glu147Val) c.243+197A>T (n.243+197A>T) c.470A>T (p.Glu157Val) n.485A>T | |
19 | g.49061558T>C | CA406805705 | NTF4 | c.440A>G (p.Glu147Gly) c.243+197A>G (n.243+197A>G) c.470A>G (p.Glu157Gly) n.485A>G | |
19 | g.49061558T>G | CA406805708 | NTF4 | c.440A>C (p.Glu147Ala) c.243+197A>C (n.243+197A>C) c.470A>C (p.Glu157Ala) n.485A>C | |
19 | g.49061559C>A | CA406805709 | NTF4 | c.439G>T (p.Glu147Ter) c.243+196G>T (n.243+196G>T) c.469G>T (p.Glu157Ter) n.484G>T | |
19 | g.49061559C= | CA2340217332 | NTF4 | c.439G= (p.Glu147=) c.243+196G= (n.243+196G=) c.469G= (p.Glu157=) n.484G= | |
19 | g.49061559C>G | CA406805710 | NTF4 | c.439G>C (p.Glu147Gln) c.243+196G>C (n.243+196G>C) c.469G>C (p.Glu157Gln) n.484G>C | |
19 | g.49061559C>T | CA406805711 | NTF4 | c.439G>A (p.Glu147Lys) c.243+196G>A (n.243+196G>A) c.469G>A (p.Glu157Lys) n.484G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061560A= | CA2340217333 | NTF4 | c.438T= (p.Ala146=) c.243+195T= (n.243+195T=) c.468T= (p.Ala156=) n.483T= | |
19 | g.49061560A>C | CA508279025 | NTF4 | c.438T>G (p.Ala146=) c.243+195T>G (n.243+195T>G) c.468T>G (p.Ala156=) n.483T>G | |
19 | g.49061560A>G | CA508279026 | NTF4 | c.438T>C (p.Ala146=) c.243+195T>C (n.243+195T>C) c.468T>C (p.Ala156=) n.483T>C | |
19 | g.49061560A>T | CA508279027 | NTF4 | c.438T>A (p.Ala146=) c.243+195T>A (n.243+195T>A) c.468T>A (p.Ala156=) n.483T>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061561G>A | CA406805727 | NTF4 | c.437C>T (p.Ala146Val) c.243+194C>T (n.243+194C>T) c.467C>T (p.Ala156Val) n.482C>T | |
19 | g.49061561G>C | CA406805736 | NTF4 | c.437C>G (p.Ala146Gly) c.243+194C>G (n.243+194C>G) c.467C>G (p.Ala156Gly) n.482C>G | |
19 | g.49061561G>T | CA406805732 | NTF4 | c.437C>A (p.Ala146Asp) c.243+194C>A (n.243+194C>A) c.467C>A (p.Ala156Asp) n.482C>A | |
19 | g.49061562C>A | CA9565633 | NTF4 | c.436G>T (p.Ala146Ser) c.243+193G>T (n.243+193G>T) c.466G>T (p.Ala156Ser) n.481G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.49061562C= | CA2340217334 | NTF4 | c.436G= (p.Ala146=) c.243+193G= (n.243+193G=) c.466G= (p.Ala156=) n.481G= | |
19 | g.49061562C>G | CA9565634 | NTF4 | c.436G>C (p.Ala146Pro) c.243+193G>C (n.243+193G>C) c.466G>C (p.Ala156Pro) n.481G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061562C>T | CA406805746 | NTF4 | c.436G>A (p.Ala146Thr) c.243+193G>A (n.243+193G>A) c.466G>A (p.Ala156Thr) n.481G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061563G>A | CA9565635 | NTF4 | c.435C>T (p.Asn145=) c.243+192C>T (n.243+192C>T) c.465C>T (p.Asn155=) n.480C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061563G>C | CA406805751 | NTF4 | c.435C>G (p.Asn145Lys) c.243+192C>G (n.243+192C>G) c.465C>G (p.Asn155Lys) n.480C>G | |
19 | g.49061563G= | CA2340217335 | NTF4 | c.435C= (p.Asn145=) c.243+192C= (n.243+192C=) c.465C= (p.Asn155=) n.480C= | |
19 | g.49061563G>T | CA406805755 | NTF4 | c.435C>A (p.Asn145Lys) c.243+192C>A (n.243+192C>A) c.465C>A (p.Asn155Lys) n.480C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061564T>A | CA406805758 | NTF4 | c.434A>T (p.Asn145Ile) c.243+191A>T (n.243+191A>T) c.464A>T (p.Asn155Ile) n.479A>T | |
19 | g.49061564T>C | CA406805761 | NTF4 | c.434A>G (p.Asn145Ser) c.243+191A>G (n.243+191A>G) c.464A>G (p.Asn155Ser) n.479A>G | |
19 | g.49061564T>G | CA406805765 | NTF4 | c.434A>C (p.Asn145Thr) c.243+191A>C (n.243+191A>C) c.464A>C (p.Asn155Thr) n.479A>C | |
19 | g.49061565T>A | CA406805774 | NTF4 | c.433A>T (p.Asn145Tyr) c.243+190A>T (n.243+190A>T) c.463A>T (p.Asn155Tyr) n.478A>T | |
19 | g.49061565T>C | CA406805777 | NTF4 | c.433A>G (p.Asn145Asp) c.243+190A>G (n.243+190A>G) c.463A>G (p.Asn155Asp) n.478A>G | |
19 | g.49061565T>G | CA406805780 | NTF4 | c.433A>C (p.Asn145His) c.243+190A>C (n.243+190A>C) c.463A>C (p.Asn155His) n.478A>C | |
19 | g.49061566A>C | CA406805790 | NTF4 | c.432T>G (p.Asp144Glu) c.243+189T>G (n.243+189T>G) c.462T>G (p.Asp154Glu) n.477T>G | |
19 | g.49061566A>G | CA508279034 | NTF4 | c.432T>C (p.Asp144=) c.243+189T>C (n.243+189T>C) c.462T>C (p.Asp154=) n.477T>C | gnomAD v4 |
19 | g.49061566A>T | CA406805781 | NTF4 | c.432T>A (p.Asp144Glu) c.243+189T>A (n.243+189T>A) c.462T>A (p.Asp154Glu) n.477T>A | |
19 | g.49061567T>A | CA406805794 | NTF4 | c.431A>T (p.Asp144Val) c.243+188A>T (n.243+188A>T) c.461A>T (p.Asp154Val) n.476A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061567T>C | CA406805801 | NTF4 | c.431A>G (p.Asp144Gly) c.243+188A>G (n.243+188A>G) c.461A>G (p.Asp154Gly) n.476A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061567T>G | CA406805797 | NTF4 | c.431A>C (p.Asp144Ala) c.243+188A>C (n.243+188A>C) c.461A>C (p.Asp154Ala) n.476A>C | |
19 | g.49061567T= | CA2340217336 | NTF4 | c.431A= (p.Asp144=) c.243+188A= (n.243+188A=) c.461A= (p.Asp154=) n.476A= | |
19 | g.49061568C>A | CA406805804 | NTF4 | c.430G>T (p.Asp144Tyr) c.430G>T c.243+187G>T (n.243+187G>T) c.460G>T (p.Asp154Tyr) n.475G>T | |
19 | g.49061568C>G | CA406805818 | NTF4 | c.430G>C (p.Asp144His) c.430G>C c.243+187G>C (n.243+187G>C) c.460G>C (p.Asp154His) n.475G>C | |
19 | g.49061568C>T | CA406805817 | NTF4 | c.430G>A (p.Asp144Asn) c.430G>A c.243+187G>A (n.243+187G>A) c.460G>A (p.Asp154Asn) n.475G>A | |
19 | g.49061569A= | CA2340217337 | NTF4 | c.429T= (p.Ala143=) c.243+186T= (n.243+186T=) c.459T= (p.Ala153=) n.474T= | |
19 | g.49061569A>C | CA508279039 | NTF4 | c.429T>G (p.Ala143=) c.243+186T>G (n.243+186T>G) c.459T>G (p.Ala153=) n.474T>G | |
19 | g.49061569A>G | CA508279041 | NTF4 | c.429T>C (p.Ala143=) c.243+186T>C (n.243+186T>C) c.459T>C (p.Ala153=) n.474T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061569A>T | CA508279040 | NTF4 | c.429T>A (p.Ala143=) c.243+186T>A (n.243+186T>A) c.459T>A (p.Ala153=) n.474T>A | |
19 | g.49061570G>A | CA406805819 | NTF4 | c.428C>T (p.Ala143Val) c.243+185C>T (n.243+185C>T) c.458C>T (p.Ala153Val) n.473C>T | |
19 | g.49061570G>C | CA406805820 | NTF4 | c.428C>G (p.Ala143Gly) c.243+185C>G (n.243+185C>G) c.458C>G (p.Ala153Gly) n.473C>G | |
19 | g.49061570G>T | CA406805823 | NTF4 | c.428C>A (p.Ala143Asp) c.243+185C>A (n.243+185C>A) c.458C>A (p.Ala153Asp) n.473C>A | |
19 | g.49061571C>A | CA406805826 | NTF4 | c.427G>T (p.Ala143Ser) c.243+184G>T (n.243+184G>T) c.457G>T (p.Ala153Ser) n.472G>T | gnomAD v4 |
19 | g.49061571C= | CA2340217338 | NTF4 | c.427G= (p.Ala143=) c.243+184G= (n.243+184G=) c.457G= (p.Ala153=) n.472G= | |
19 | g.49061571C>G | CA406805831 | NTF4 | c.427G>C (p.Ala143Pro) c.243+184G>C (n.243+184G>C) c.457G>C (p.Ala153Pro) n.472G>C | gnomAD v4 |
19 | g.49061571C>T | CA9565636 | NTF4 | c.427G>A (p.Ala143Thr) c.243+184G>A (n.243+184G>A) c.457G>A (p.Ala153Thr) n.472G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061572C>A | CA406805836 | NTF4 | c.426G>T (p.Lys142Asn) c.243+183G>T (n.243+183G>T) c.456G>T (p.Lys152Asn) n.471G>T | |
19 | g.49061572C>G | CA406805839 | NTF4 | c.426G>C (p.Lys142Asn) c.243+183G>C (n.243+183G>C) c.456G>C (p.Lys152Asn) n.471G>C | |
19 | g.49061572C>T | CA508279049 | NTF4 | c.426G>A (p.Lys142=) c.243+183G>A (n.243+183G>A) c.456G>A (p.Lys152=) n.471G>A | |
19 | g.49061573T>A | CA406805845 | NTF4 | c.425A>T (p.Lys142Met) c.243+182A>T (n.243+182A>T) c.455A>T (p.Lys152Met) n.470A>T | |
19 | g.49061573T>C | CA406805850 | NTF4 | c.425A>G (p.Lys142Arg) c.243+182A>G (n.243+182A>G) c.455A>G (p.Lys152Arg) n.470A>G | gnomAD v4 |
19 | g.49061573T>G | CA406805853 | NTF4 | c.425A>C (p.Lys142Thr) c.243+182A>C (n.243+182A>C) c.455A>C (p.Lys152Thr) n.470A>C | |
19 | g.49061574T>A | CA406805862 | NTF4 | c.424A>T (p.Lys142Ter) c.243+181A>T (n.243+181A>T) c.454A>T (p.Lys152Ter) n.469A>T | |
19 | g.49061574T>C | CA406805860 | NTF4 | c.424A>G (p.Lys142Glu) c.243+181A>G (n.243+181A>G) c.454A>G (p.Lys152Glu) n.469A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061574T>G | CA406805856 | NTF4 | c.424A>C (p.Lys142Gln) c.243+181A>C (n.243+181A>C) c.454A>C (p.Lys152Gln) n.469A>C | |
19 | g.49061574T= | CA2340217339 | NTF4 | c.424A= (p.Lys142=) c.243+181A= (n.243+181A=) c.454A= (p.Lys152=) n.469A= | |
19 | g.49061575G>A | CA508279054 | NTF4 | c.423C>T (p.Cys141=) c.243+180C>T (n.243+180C>T) c.453C>T (p.Cys151=) n.468C>T | |
19 | g.49061575G>C | CA406805865 | NTF4 | c.423C>G (p.Cys141Trp) c.243+180C>G (n.243+180C>G) c.453C>G (p.Cys151Trp) n.468C>G | |
19 | g.49061575G>T | CA406805868 | NTF4 | c.423C>A (p.Cys141Ter) c.243+180C>A (n.243+180C>A) c.453C>A (p.Cys151Ter) n.468C>A | gnomAD v4 |
19 | g.49061576C>A | CA406805871 | NTF4 | c.422G>T (p.Cys141Phe) c.243+179G>T (n.243+179G>T) c.452G>T (p.Cys151Phe) n.467G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061576C= | CA2340217340 | NTF4 | c.422G= (p.Cys141=) c.243+179G= (n.243+179G=) c.452G= (p.Cys151=) n.467G= | |
19 | g.49061576C>G | CA406805874 | NTF4 | c.422G>C (p.Cys141Ser) c.243+179G>C (n.243+179G>C) c.452G>C (p.Cys151Ser) n.467G>C | |
19 | g.49061576C>T | CA406805875 | NTF4 | c.422G>A (p.Cys141Tyr) c.243+179G>A (n.243+179G>A) c.452G>A (p.Cys151Tyr) n.467G>A | COSMIC |
19 | g.49061577A= | CA2340217341 | NTF4 | c.421T= (p.Cys141=) c.243+178T= (n.243+178T=) c.451T= (p.Cys151=) n.466T= | |
19 | g.49061577A>C | CA406805880 | NTF4 | c.421T>G (p.Cys141Gly) c.243+178T>G (n.243+178T>G) c.451T>G (p.Cys151Gly) n.466T>G | |
19 | g.49061577A>G | CA406805895 | NTF4 | c.421T>C (p.Cys141Arg) c.243+178T>C (n.243+178T>C) c.451T>C (p.Cys151Arg) n.466T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061577A>T | CA406805902 | NTF4 | c.421T>A (p.Cys141Ser) c.243+178T>A (n.243+178T>A) c.451T>A (p.Cys151Ser) n.466T>A | |
19 | g.49061578G>A | CA508279061 | NTF4 | c.420C>T (p.Arg140=) c.243+177C>T (n.243+177C>T) c.450C>T (p.Arg150=) n.465C>T | |
19 | g.49061578G>C | CA508279062 | NTF4 | c.420C>G (p.Arg140=) c.243+177C>G (n.243+177C>G) c.450C>G (p.Arg150=) n.465C>G | |
19 | g.49061578G>T | CA508279063 | NTF4 | c.420C>A (p.Arg140=) c.243+177C>A (n.243+177C>A) c.450C>A (p.Arg150=) n.465C>A | |
19 | g.49061579C>A | CA406805907 | NTF4 | c.419G>T (p.Arg140Leu) c.243+176G>T (n.243+176G>T) c.449G>T (p.Arg150Leu) n.464G>T | gnomAD v4 |
19 | g.49061579C= | CA2340217342 | NTF4 | c.419G= (p.Arg140=) c.243+176G= (n.243+176G=) c.449G= (p.Arg150=) n.464G= | |
19 | g.49061579C>G | CA406805909 | NTF4 | c.419G>C (p.Arg140Pro) c.243+176G>C (n.243+176G>C) c.449G>C (p.Arg150Pro) n.464G>C | |
19 | g.49061579C>T | CA9565637 | NTF4 | c.419G>A (p.Arg140His) c.243+176G>A (n.243+176G>A) c.449G>A (p.Arg150His) n.464G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49061579_49061580insT | CA309446675 | NTF4 | c.418_419insA (p.Arg140GlnfsTer5) c.418_419insA (p.Arg140GlnfsTer?) c.243+175_243+176insA (n.243+175_243+176insA) c.448_449insA (p.Arg150GlnfsTer5) n.463_464insA | dbSNP |
19 | g.49061580G>A | CA9565638 | NTF4 | c.418C>T (p.Arg140Cys) c.243+175C>T (n.243+175C>T) c.448C>T (p.Arg150Cys) n.463C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061580G>C | CA406805918 | NTF4 | c.418C>G (p.Arg140Gly) c.243+175C>G (n.243+175C>G) c.448C>G (p.Arg150Gly) n.463C>G | gnomAD v4 |
19 | g.49061580G= | CA2340217343 | NTF4 | c.418C= (p.Arg140=) c.243+175C= (n.243+175C=) c.448C= (p.Arg150=) n.463C= | |
19 | g.49061580G>T | CA9565639 | NTF4 | c.418C>A (p.Arg140Ser) c.243+175C>A (n.243+175C>A) c.448C>A (p.Arg150Ser) n.463C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061582dup | CA2586311532 | NTF4 | c.418dup (p.Arg140ProfsTer5) c.418dup (p.Arg140ProfsTer?) c.243+175dup (n.243+175dup) c.448dup (p.Arg150ProfsTer5) n.463dup | gnomAD v4 |
19 | g.49061581G>A | CA508279066 | NTF4 | c.417C>T (p.Thr139=) c.243+174C>T (n.243+174C>T) c.447C>T (p.Thr149=) n.462C>T | |
19 | g.49061581G>C | CA508279067 | NTF4 | c.417C>G (p.Thr139=) c.243+174C>G (n.243+174C>G) c.447C>G (p.Thr149=) n.462C>G | |
19 | g.49061581G= | CA2340217344 | NTF4 | c.417C= (p.Thr139=) c.243+174C= (n.243+174C=) c.447C= (p.Thr149=) n.462C= | |
19 | g.49061581G>T | CA309446690 | NTF4 | c.417C>A (p.Thr139=) c.243+174C>A (n.243+174C>A) c.447C>A (p.Thr149=) n.462C>A | dbSNP |
19 | g.49061582G>A | CA406805927 | NTF4 | c.416C>T (p.Thr139Ile) c.243+173C>T (n.243+173C>T) c.446C>T (p.Thr149Ile) n.461C>T | |
19 | g.49061582G>C | CA406805943 | NTF4 | c.416C>G (p.Thr139Ser) c.243+173C>G (n.243+173C>G) c.446C>G (p.Thr149Ser) n.461C>G | |
19 | g.49061582G>T | CA406805946 | NTF4 | c.416C>A (p.Thr139Asn) c.243+173C>A (n.243+173C>A) c.446C>A (p.Thr149Asn) n.461C>A | |
19 | g.49061583T>A | CA406805949 | NTF4 | c.415A>T (p.Thr139Ser) c.243+172A>T (n.243+172A>T) c.445A>T (p.Thr149Ser) n.460A>T | |
19 | g.49061583T>C | CA406805950 | NTF4 | c.415A>G (p.Thr139Ala) c.243+172A>G (n.243+172A>G) c.445A>G (p.Thr149Ala) n.460A>G | |
19 | g.49061583T>G | CA406805951 | NTF4 | c.415A>C (p.Thr139Pro) c.243+172A>C (n.243+172A>C) c.445A>C (p.Thr149Pro) n.460A>C | |
19 | g.49061584T>A | CA406805952 | NTF4 | c.414A>T (p.Glu138Asp) c.243+171A>T (n.243+171A>T) c.444A>T (p.Glu148Asp) n.459A>T | gnomAD v4 |
19 | g.49061584T>C | CA508279072 | NTF4 | c.414A>G (p.Glu138=) c.243+171A>G (n.243+171A>G) c.444A>G (p.Glu148=) n.459A>G | |
19 | g.49061584T>G | CA406805955 | NTF4 | c.414A>C (p.Glu138Asp) c.243+171A>C (n.243+171A>C) c.444A>C (p.Glu148Asp) n.459A>C | |
19 | g.49061585T>A | CA406805958 | NTF4 | c.413A>T (p.Glu138Val) c.243+170A>T (n.243+170A>T) c.443A>T (p.Glu148Val) n.458A>T | gnomAD v4 |
19 | g.49061585T>C | CA406805959 | NTF4 | c.413A>G (p.Glu138Gly) c.243+170A>G (n.243+170A>G) c.443A>G (p.Glu148Gly) n.458A>G | |
19 | g.49061585T>G | CA406805963 | NTF4 | c.413A>C (p.Glu138Ala) c.243+170A>C (n.243+170A>C) c.443A>C (p.Glu148Ala) n.458A>C | |
19 | g.49061586C>A | CA406805974 | NTF4 | c.412G>T (p.Glu138Ter) c.243+169G>T (n.243+169G>T) c.442G>T (p.Glu148Ter) n.457G>T | |
19 | g.49061586C>G | CA406805969 | NTF4 | c.412G>C (p.Glu138Gln) c.243+169G>C (n.243+169G>C) c.442G>C (p.Glu148Gln) n.457G>C | |
19 | g.49061586C>T | CA406805971 | NTF4 | c.412G>A (p.Glu138Lys) c.243+169G>A (n.243+169G>A) c.442G>A (p.Glu148Lys) n.457G>A | |
19 | g.49061587A= | CA2340217345 | NTF4 | c.411T= (p.Phe137=) c.243+168T= (n.243+168T=) c.441T= (p.Phe147=) n.456T= | |
19 | g.49061587A>C | CA406805976 | NTF4 | c.411T>G (p.Phe137Leu) c.243+168T>G (n.243+168T>G) c.441T>G (p.Phe147Leu) n.456T>G | |
19 | g.49061587A>G | CA9565640 | NTF4 | c.411T>C (p.Phe137=) c.243+168T>C (n.243+168T>C) c.441T>C (p.Phe147=) n.456T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061587A>T | CA406805981 | NTF4 | c.411T>A (p.Phe137Leu) c.243+168T>A (n.243+168T>A) c.441T>A (p.Phe147Leu) n.456T>A | |
19 | g.49061588A>C | CA406805983 | NTF4 | c.410T>G (p.Phe137Cys) c.243+167T>G (n.243+167T>G) c.440T>G (p.Phe147Cys) n.455T>G | |
19 | g.49061588A>G | CA406805989 | NTF4 | c.410T>C (p.Phe137Ser) c.243+167T>C (n.243+167T>C) c.440T>C (p.Phe147Ser) n.455T>C | |
19 | g.49061588A>T | CA406805991 | NTF4 | c.410T>A (p.Phe137Tyr) c.243+167T>A (n.243+167T>A) c.440T>A (p.Phe147Tyr) n.455T>A | |
19 | g.49061589A= | CA2340217346 | NTF4 | c.409T= (p.Phe137=) c.243+166T= (n.243+166T=) c.439T= (p.Phe147=) n.454T= | |
19 | g.49061589A>C | CA9565641 | NTF4 | c.409T>G (p.Phe137Val) c.243+166T>G (n.243+166T>G) c.439T>G (p.Phe147Val) n.454T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061589A>G | CA406805994 | NTF4 | c.409T>C (p.Phe137Leu) c.243+166T>C (n.243+166T>C) c.439T>C (p.Phe147Leu) n.454T>C | dbSNP |
19 | g.49061589A>T | CA406805995 | NTF4 | c.409T>A (p.Phe137Ile) c.243+166T>A (n.243+166T>A) c.439T>A (p.Phe147Ile) n.454T>A | |
19 | g.49061590G>A | CA508279081 | NTF4 | c.408C>T (p.Phe136=) c.243+165C>T (n.243+165C>T) c.438C>T (p.Phe146=) n.453C>T | dbSNP |
19 | g.49061590G>C | CA406805998 | NTF4 | c.408C>G (p.Phe136Leu) c.243+165C>G (n.243+165C>G) c.438C>G (p.Phe146Leu) n.453C>G | |
19 | g.49061590G= | CA2340217347 | NTF4 | c.408C= (p.Phe136=) c.243+165C= (n.243+165C=) c.438C= (p.Phe146=) n.453C= | |
19 | g.49061590G>T | CA406806000 | NTF4 | c.408C>A (p.Phe136Leu) c.243+165C>A (n.243+165C>A) c.438C>A (p.Phe146Leu) n.453C>A | |
19 | g.49061591A>C | CA406806008 | NTF4 | c.407T>G (p.Phe136Cys) c.243+164T>G (n.243+164T>G) c.437T>G (p.Phe146Cys) n.452T>G | |
19 | g.49061591A>G | CA406806007 | NTF4 | c.407T>C (p.Phe136Ser) c.243+164T>C (n.243+164T>C) c.437T>C (p.Phe146Ser) n.452T>C | |
19 | g.49061591A>T | CA406806003 | NTF4 | c.407T>A (p.Phe136Tyr) c.243+164T>A (n.243+164T>A) c.437T>A (p.Phe146Tyr) n.452T>A | |
19 | g.49061592A= | CA2340217348 | NTF4 | c.406T= (p.Phe136=) c.243+163T= (n.243+163T=) c.436T= (p.Phe146=) n.451T= | |
19 | g.49061592A>C | CA406806009 | NTF4 | c.406T>G (p.Phe136Val) c.243+163T>G (n.243+163T>G) c.436T>G (p.Phe146Val) n.451T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061592A>G | CA406806011 | NTF4 | c.406T>C (p.Phe136Leu) c.243+163T>C (n.243+163T>C) c.436T>C (p.Phe146Leu) n.451T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061592A>T | CA406806010 | NTF4 | c.406T>A (p.Phe136Ile) c.243+163T>A (n.243+163T>A) c.436T>A (p.Phe146Ile) n.451T>A | |
19 | g.49061593G>A | CA508279085 | NTF4 | c.405C>T (p.Tyr135=) c.243+162C>T (n.243+162C>T) c.435C>T (p.Tyr145=) n.450C>T | gnomAD v4 |
19 | g.49061593G>C | CA406806014 | NTF4 | c.405C>G (p.Tyr135Ter) c.243+162C>G (n.243+162C>G) c.435C>G (p.Tyr145Ter) n.450C>G | |
19 | g.49061593G>T | CA406806017 | NTF4 | c.405C>A (p.Tyr135Ter) c.243+162C>A (n.243+162C>A) c.435C>A (p.Tyr145Ter) n.450C>A | gnomAD v4 |
19 | g.49061594T>A | CA406806020 | NTF4 | c.404A>T (p.Tyr135Phe) c.243+161A>T (n.243+161A>T) c.434A>T (p.Tyr145Phe) n.449A>T | |
19 | g.49061594T>C | CA406806023 | NTF4 | c.404A>G (p.Tyr135Cys) c.243+161A>G (n.243+161A>G) c.434A>G (p.Tyr145Cys) n.449A>G | COSMIC |
19 | g.49061594T>G | CA406806029 | NTF4 | c.404A>C (p.Tyr135Ser) c.243+161A>C (n.243+161A>C) c.434A>C (p.Tyr145Ser) n.449A>C | |
19 | g.49061595A>C | CA406806033 | NTF4 | c.403T>G (p.Tyr135Asp) c.243+160T>G (n.243+160T>G) c.433T>G (p.Tyr145Asp) n.448T>G | |
19 | g.49061595A>G | CA406806035 | NTF4 | c.403T>C (p.Tyr135His) c.243+160T>C (n.243+160T>C) c.433T>C (p.Tyr145His) n.448T>C | gnomAD v4 |
19 | g.49061595A>T | CA406806039 | NTF4 | c.403T>A (p.Tyr135Asn) c.243+160T>A (n.243+160T>A) c.433T>A (p.Tyr145Asn) n.448T>A | |
19 | g.49061596C>A | CA406806041 | NTF4 | c.402G>T (p.Gln134His) c.243+159G>T (n.243+159G>T) c.432G>T (p.Gln144His) n.447G>T | |
19 | g.49061596C>G | CA406806043 | NTF4 | c.402G>C (p.Gln134His) c.243+159G>C (n.243+159G>C) c.432G>C (p.Gln144His) n.447G>C | |
19 | g.49061596C>T | CA508279093 | NTF4 | c.402G>A (p.Gln134=) c.243+159G>A (n.243+159G>A) c.432G>A (p.Gln144=) n.447G>A | gnomAD v4 |
19 | g.49061597T>A | CA406806052 | NTF4 | c.401A>T (p.Gln134Leu) c.243+158A>T (n.243+158A>T) c.431A>T (p.Gln144Leu) n.446A>T | |
19 | g.49061597T>C | CA406806049 | NTF4 | c.401A>G (p.Gln134Arg) c.243+158A>G (n.243+158A>G) c.431A>G (p.Gln144Arg) n.446A>G | |
19 | g.49061597T>G | CA406806047 | NTF4 | c.401A>C (p.Gln134Pro) c.243+158A>C (n.243+158A>C) c.431A>C (p.Gln144Pro) n.446A>C | |
19 | g.49061598G>A | CA406806053 | NTF4 | c.400C>T (p.Gln134Ter) c.243+157C>T (n.243+157C>T) c.430C>T (p.Gln144Ter) n.445C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49061598G>C | CA406806054 | NTF4 | c.400C>G (p.Gln134Glu) c.243+157C>G (n.243+157C>G) c.430C>G (p.Gln144Glu) n.445C>G | |
19 | g.49061598G= | CA2340217349 | NTF4 | c.400C= (p.Gln134=) c.243+157C= (n.243+157C=) c.430C= (p.Gln144=) n.445C= | |
19 | g.49061598G>T | CA406806062 | NTF4 | c.400C>A (p.Gln134Lys) c.243+157C>A (n.243+157C>A) c.430C>A (p.Gln144Lys) n.445C>A | |
19 | g.49061599G>A | CA508279099 | NTF4 | c.399C>T (p.Arg133=) c.243+156C>T (n.243+156C>T) c.429C>T (p.Arg143=) n.444C>T | |
19 | g.49061599G>C | CA508279097 | NTF4 | c.399C>G (p.Arg133=) c.243+156C>G (n.243+156C>G) c.429C>G (p.Arg143=) n.444C>G | |
19 | g.49061599G>T | CA508279098 | NTF4 | c.399C>A (p.Arg133=) c.243+156C>A (n.243+156C>A) c.429C>A (p.Arg143=) n.444C>A | |
19 | g.49061600C>A | CA406806063 | NTF4 | c.398G>T (p.Arg133Leu) c.243+155G>T (n.243+155G>T) c.428G>T (p.Arg143Leu) n.443G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061600C= | CA2340217350 | NTF4 | c.398G= (p.Arg133=) c.243+155G= (n.243+155G=) c.428G= (p.Arg143=) n.443G= | |
19 | g.49061600C>G | CA406806064 | NTF4 | c.398G>C (p.Arg133Pro) c.243+155G>C (n.243+155G>C) c.428G>C (p.Arg143Pro) n.443G>C | |
19 | g.49061600C>T | CA309446694 | NTF4 | c.398G>A (p.Arg133His) c.243+155G>A (n.243+155G>A) c.428G>A (p.Arg143His) n.443G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061601G>A | CA9565642 | NTF4 | c.397C>T (p.Arg133Cys) c.243+154C>T (n.243+154C>T) c.427C>T (p.Arg143Cys) n.442C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061601G>C | CA406806074 | NTF4 | c.397C>G (p.Arg133Gly) c.243+154C>G (n.243+154C>G) c.427C>G (p.Arg143Gly) n.442C>G | gnomAD v4 |
19 | g.49061601G= | CA2340217351 | NTF4 | c.397C= (p.Arg133=) c.243+154C= (n.243+154C=) c.427C= (p.Arg143=) n.442C= | |
19 | g.49061601G>T | CA406806078 | NTF4 | c.397C>A (p.Arg133Ser) c.243+154C>A (n.243+154C>A) c.427C>A (p.Arg143Ser) n.442C>A | dbSNP gnomAD v4 |
19 | g.49061602G>A | CA508279103 | NTF4 | c.396C>T (p.Leu132=) c.243+153C>T (n.243+153C>T) c.426C>T (p.Leu142=) n.441C>T | gnomAD v4 |
19 | g.49061602G>C | CA508279106 | NTF4 | c.396C>G (p.Leu132=) c.243+153C>G (n.243+153C>G) c.426C>G (p.Leu142=) n.441C>G | |
19 | g.49061602G>T | CA508279107 | NTF4 | c.396C>A (p.Leu132=) c.243+153C>A (n.243+153C>A) c.426C>A (p.Leu142=) n.441C>A | |
19 | g.49061603A>C | CA406806081 | NTF4 | c.395T>G (p.Leu132Arg) c.243+152T>G (n.243+152T>G) c.425T>G (p.Leu142Arg) n.440T>G | |
19 | g.49061603A>G | CA406806084 | NTF4 | c.395T>C (p.Leu132Pro) c.243+152T>C (n.243+152T>C) c.425T>C (p.Leu142Pro) n.440T>C | |
19 | g.49061603A>T | CA406806087 | NTF4 | c.395T>A (p.Leu132His) c.243+152T>A (n.243+152T>A) c.425T>A (p.Leu142His) n.440T>A | |
19 | g.49061604G>A | CA406806092 | NTF4 | c.394C>T (p.Leu132Phe) c.243+151C>T (n.243+151C>T) c.424C>T (p.Leu142Phe) n.439C>T | |
19 | g.49061604G>C | CA406806097 | NTF4 | c.394C>G (p.Leu132Val) c.243+151C>G (n.243+151C>G) c.424C>G (p.Leu142Val) n.439C>G | gnomAD v4 |
19 | g.49061604G>T | CA406806091 | NTF4 | c.394C>A (p.Leu132Ile) c.243+151C>A (n.243+151C>A) c.424C>A (p.Leu142Ile) n.439C>A | |
19 | g.49061605G>A | CA508279111 | NTF4 | c.393C>T (p.Pro131=) c.243+150C>T (n.243+150C>T) c.423C>T (p.Pro141=) n.438C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061605G>C | CA508279113 | NTF4 | c.393C>G (p.Pro131=) c.243+150C>G (n.243+150C>G) c.423C>G (p.Pro141=) n.438C>G | |
19 | g.49061605G= | CA2340217352 | NTF4 | c.393C= (p.Pro131=) c.243+150C= (n.243+150C=) c.423C= (p.Pro141=) n.438C= | |
19 | g.49061605G>T | CA508279112 | NTF4 | c.393C>A (p.Pro131=) c.243+150C>A (n.243+150C>A) c.423C>A (p.Pro141=) n.438C>A | |
19 | g.49061605_49061606insTTTTTTAATGATAC | CA2512455321 | NTF4 | c.392_393insGTATCATTAAAAAA (p.Leu132TyrfsTer3) c.243+149_243+150insGTATCATTAAAAAA (n.243+149_243+150insGTATCATTAAAAAA) c.422_423insGTATCATTAAAAAA (p.Leu142TyrfsTer3) n.437_438insGTATCATTAAAAAA | |
19 | g.49061606G>A | CA406806101 | NTF4 | c.392C>T (p.Pro131Leu) c.243+149C>T (n.243+149C>T) c.422C>T (p.Pro141Leu) n.437C>T | |
19 | g.49061606G>C | CA406806104 | NTF4 | c.392C>G (p.Pro131Arg) c.243+149C>G (n.243+149C>G) c.422C>G (p.Pro141Arg) n.437C>G | |
19 | g.49061606G>T | CA406806106 | NTF4 | c.392C>A (p.Pro131His) c.243+149C>A (n.243+149C>A) c.422C>A (p.Pro141His) n.437C>A | |
19 | g.49061607G>A | CA9565643 | NTF4 | c.391C>T (p.Pro131Ser) c.243+148C>T (n.243+148C>T) c.421C>T (p.Pro141Ser) n.436C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061607G>C | CA406806111 | NTF4 | c.391C>G (p.Pro131Ala) c.243+148C>G (n.243+148C>G) c.421C>G (p.Pro141Ala) n.436C>G | |
19 | g.49061607G= | CA2340217353 | NTF4 | c.391C= (p.Pro131=) c.243+148C= (n.243+148C=) c.421C= (p.Pro141=) n.436C= | |
19 | g.49061607G>T | CA406806114 | NTF4 | c.391C>A (p.Pro131Thr) c.243+148C>A (n.243+148C>A) c.421C>A (p.Pro141Thr) n.436C>A | |
19 | g.49061608A= | CA2340217354 | NTF4 | c.390T= (p.Ser130=) c.243+147T= (n.243+147T=) c.420T= (p.Ser140=) n.435T= | |
19 | g.49061608A>C | CA406806121 | NTF4 | c.390T>G (p.Ser130Arg) c.243+147T>G (n.243+147T>G) c.420T>G (p.Ser140Arg) n.435T>G | |
19 | g.49061608A>G | CA309446700 | NTF4 | c.390T>C (p.Ser130=) c.243+147T>C (n.243+147T>C) c.420T>C (p.Ser140=) n.435T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061608A>T | CA406806118 | NTF4 | c.390T>A (p.Ser130Arg) c.243+147T>A (n.243+147T>A) c.420T>A (p.Ser140Arg) n.435T>A | |
19 | g.49061608_49061612del | CA2569421475 | NTF4 | c.386_390del (p.Gly129AlafsTer8) c.243+143_243+147del (n.243+143_243+147del) c.416_420del (p.Gly139AlafsTer8) n.431_435del | |
19 | g.49061609C>A | CA406806127 | NTF4 | c.389G>T (p.Ser130Ile) c.243+146G>T (n.243+146G>T) c.419G>T (p.Ser140Ile) n.434G>T | |
19 | g.49061609C>G | CA406806128 | NTF4 | c.389G>C (p.Ser130Thr) c.243+146G>C (n.243+146G>C) c.419G>C (p.Ser140Thr) n.434G>C | |
19 | g.49061609C>T | CA406806133 | NTF4 | c.389G>A (p.Ser130Asn) c.243+146G>A (n.243+146G>A) c.419G>A (p.Ser140Asn) n.434G>A | |
19 | g.49061610T>A | CA406806138 | NTF4 | c.388A>T (p.Ser130Cys) c.243+145A>T (n.243+145A>T) c.418A>T (p.Ser140Cys) n.433A>T | |
19 | g.49061610T>C | CA406806141 | NTF4 | c.388A>G (p.Ser130Gly) c.243+145A>G (n.243+145A>G) c.418A>G (p.Ser140Gly) n.433A>G | |
19 | g.49061610T>G | CA406806144 | NTF4 | c.388A>C (p.Ser130Arg) c.243+145A>C (n.243+145A>C) c.418A>C (p.Ser140Arg) n.433A>C | |
19 | g.49061611G>A | CA508279118 | NTF4 | c.387C>T (p.Gly129=) c.243+144C>T (n.243+144C>T) c.417C>T (p.Gly139=) n.432C>T | |
19 | g.49061611G>C | CA508279120 | NTF4 | c.387C>G (p.Gly129=) c.243+144C>G (n.243+144C>G) c.417C>G (p.Gly139=) n.432C>G | |
19 | g.49061611G>T | CA508279119 | NTF4 | c.387C>A (p.Gly129=) c.243+144C>A (n.243+144C>A) c.417C>A (p.Gly139=) n.432C>A | |
19 | g.49061612C>A | CA406806147 | NTF4 | c.386G>T (p.Gly129Val) c.243+143G>T (n.243+143G>T) c.416G>T (p.Gly139Val) n.431G>T | |
19 | g.49061612C>G | CA406806157 | NTF4 | c.386G>C (p.Gly129Ala) c.243+143G>C (n.243+143G>C) c.416G>C (p.Gly139Ala) n.431G>C | |
19 | g.49061612C>T | CA406806155 | NTF4 | c.386G>A (p.Gly129Asp) c.243+143G>A (n.243+143G>A) c.416G>A (p.Gly139Asp) n.431G>A | |
19 | g.49061613C>A | CA406806159 | NTF4 | c.385G>T (p.Gly129Cys) c.243+142G>T (n.243+142G>T) c.415G>T (p.Gly139Cys) n.430G>T | dbSNP COSMIC |
19 | g.49061613C= | CA2340217355 | NTF4 | c.385G= (p.Gly129=) c.243+142G= (n.243+142G=) c.415G= (p.Gly139=) n.430G= | |
19 | g.49061613C>G | CA406806163 | NTF4 | c.385G>C (p.Gly129Arg) c.243+142G>C (n.243+142G>C) c.415G>C (p.Gly139Arg) n.430G>C | |
19 | g.49061613C>T | CA406806165 | NTF4 | c.385G>A (p.Gly129Ser) c.243+142G>A (n.243+142G>A) c.415G>A (p.Gly139Ser) n.430G>A | dbSNP gnomAD v4 |
19 | g.49061614G>A | CA9565644 | NTF4 | c.384C>T (p.Gly128=) c.243+141C>T (n.243+141C>T) c.414C>T (p.Gly138=) n.429C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061614G>C | CA508279123 | NTF4 | c.384C>G (p.Gly128=) c.243+141C>G (n.243+141C>G) c.414C>G (p.Gly138=) n.429C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49061614G= | CA2340217356 | NTF4 | c.384C= (p.Gly128=) c.243+141C= (n.243+141C=) c.414C= (p.Gly138=) n.429C= | |
19 | g.49061614G>T | CA9565645 | NTF4 | c.384C>A (p.Gly128=) c.243+141C>A (n.243+141C>A) c.414C>A (p.Gly138=) n.429C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.49061614dup | CA883075187 | NTF4 | c.384dup (p.Gly129ArgfsTer10) c.243+141dup (n.243+141dup) c.414dup (p.Gly139ArgfsTer10) n.429dup | dbSNP |
19 | g.49061614_49061615insA | CA2525347824 | NTF4 | c.383_384insT (p.Gly129ArgfsTer10) c.243+140_243+141insT (n.243+140_243+141insT) c.413_414insT (p.Gly139ArgfsTer10) n.428_429insT | |
19 | g.49061615C>A | CA406806183 | NTF4 | c.383G>T (p.Gly128Val) c.243+140G>T (n.243+140G>T) c.413G>T (p.Gly138Val) n.428G>T | |
19 | g.49061615C>G | CA406806186 | NTF4 | c.383G>C (p.Gly128Ala) c.243+140G>C (n.243+140G>C) c.413G>C (p.Gly138Ala) n.428G>C | |
19 | g.49061615C>T | CA406806189 | NTF4 | c.383G>A (p.Gly128Asp) c.243+140G>A (n.243+140G>A) c.413G>A (p.Gly138Asp) n.428G>A | gnomAD v4 |
19 | g.49061616C>A | CA406806193 | NTF4 | c.382G>T (p.Gly128Cys) c.243+139G>T (n.243+139G>T) c.412G>T (p.Gly138Cys) n.427G>T | |
19 | g.49061616C>G | CA406806197 | NTF4 | c.382G>C (p.Gly128Arg) c.243+139G>C (n.243+139G>C) c.412G>C (p.Gly138Arg) n.427G>C | |
19 | g.49061616C>T | CA406806204 | NTF4 | c.382G>A (p.Gly128Ser) c.243+139G>A (n.243+139G>A) c.412G>A (p.Gly138Ser) n.427G>A | |
19 | g.49061617A= | CA2340217357 | NTF4 | c.381T= (p.Ala127=) c.243+138T= (n.243+138T=) c.411T= (p.Ala137=) n.426T= | |
19 | g.49061617A>C | CA508279127 | NTF4 | c.381T>G (p.Ala127=) c.243+138T>G (n.243+138T>G) c.411T>G (p.Ala137=) n.426T>G | |
19 | g.49061617A>G | CA9565646 | NTF4 | c.381T>C (p.Ala127=) c.243+138T>C (n.243+138T>C) c.411T>C (p.Ala137=) n.426T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061617A>T | CA508279128 | NTF4 | c.381T>A (p.Ala127=) c.243+138T>A (n.243+138T>A) c.411T>A (p.Ala137=) n.426T>A | |
19 | g.49061618del | CA2545088563 | NTF4 | c.380del (p.Ala127ValfsTer?) c.243+137del (n.243+137del) c.410del (p.Ala137ValfsTer?) n.425del | |
19 | g.49061618G>A | CA9565647 | NTF4 | c.380C>T (p.Ala127Val) c.243+137C>T (n.243+137C>T) c.410C>T (p.Ala137Val) n.425C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061618G>C | CA406806215 | NTF4 | c.380C>G (p.Ala127Gly) c.243+137C>G (n.243+137C>G) c.410C>G (p.Ala137Gly) n.425C>G | |
19 | g.49061618G= | CA2340217358 | NTF4 | c.380C= (p.Ala127=) c.243+137C= (n.243+137C=) c.410C= (p.Ala137=) n.425C= | |
19 | g.49061618G>T | CA406806211 | NTF4 | c.380C>A (p.Ala127Asp) c.243+137C>A (n.243+137C>A) c.410C>A (p.Ala137Asp) n.425C>A | |
19 | g.49061619C>A | CA309446728 | NTF4 | c.379G>T (p.Ala127Ser) c.243+136G>T (n.243+136G>T) c.409G>T (p.Ala137Ser) n.424G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061619C= | CA2340217359 | NTF4 | c.379G= (p.Ala127=) c.243+136G= (n.243+136G=) c.409G= (p.Ala137=) n.424G= | |
19 | g.49061619C>G | CA406806232 | NTF4 | c.379G>C (p.Ala127Pro) c.243+136G>C (n.243+136G>C) c.409G>C (p.Ala137Pro) n.424G>C | |
19 | g.49061619C>T | CA406806229 | NTF4 | c.379G>A (p.Ala127Thr) c.243+136G>A (n.243+136G>A) c.409G>A (p.Ala137Thr) n.424G>A | |
19 | g.49061619_49061629del | CA2814676592 | NTF4 | c.369_379del (p.Glu123AspfsTer12) c.243+126_243+136del (n.243+126_243+136del) c.399_409del (p.Glu133AspfsTer12) n.414_424del | |
19 | g.49061620T>A | CA508279136 | NTF4 | c.378A>T (p.Ala126=) c.243+135A>T (n.243+135A>T) c.408A>T (p.Ala136=) n.423A>T | |
19 | g.49061620T>C | CA508279132 | NTF4 | c.378A>G (p.Ala126=) c.243+135A>G (n.243+135A>G) c.408A>G (p.Ala136=) n.423A>G | gnomAD v4 |
19 | g.49061620T>G | CA508279134 | NTF4 | c.378A>C (p.Ala126=) c.243+135A>C (n.243+135A>C) c.408A>C (p.Ala136=) n.423A>C | |
19 | g.49061621G>A | CA406806234 | NTF4 | c.377C>T (p.Ala126Val) c.243+134C>T (n.243+134C>T) c.407C>T (p.Ala136Val) n.422C>T | gnomAD v4 |
19 | g.49061621G>C | CA406806251 | NTF4 | c.377C>G (p.Ala126Gly) c.243+134C>G (n.243+134C>G) c.407C>G (p.Ala136Gly) n.422C>G | |
19 | g.49061621G>T | CA406806245 | NTF4 | c.377C>A (p.Ala126Glu) c.243+134C>A (n.243+134C>A) c.407C>A (p.Ala136Glu) n.422C>A | gnomAD v4 |
19 | g.49061622del | CA2553927339 | NTF4 | c.376del (p.Ala126GlnfsTer?) c.243+133del (n.243+133del) c.406del (p.Ala136GlnfsTer?) n.421del | |
19 | g.49061622C>A | CA406806266 | NTF4 | c.376G>T (p.Ala126Ser) c.243+133G>T (n.243+133G>T) c.406G>T (p.Ala136Ser) n.421G>T | |
19 | g.49061622C= | CA2340217360 | NTF4 | c.376G= (p.Ala126=) c.243+133G= (n.243+133G=) c.406G= (p.Ala136=) n.421G= | |
19 | g.49061622C>G | CA406806270 | NTF4 | c.376G>C (p.Ala126Pro) c.243+133G>C (n.243+133G>C) c.406G>C (p.Ala136Pro) n.421G>C | |
19 | g.49061622C>T | CA9565648 | NTF4 | c.376G>A (p.Ala126Thr) c.243+133G>A (n.243+133G>A) c.406G>A (p.Ala136Thr) n.421G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061623A>C | CA508279138 | NTF4 | c.375T>G (p.Pro125=) c.243+132T>G (n.243+132T>G) c.405T>G (p.Pro135=) n.420T>G | |
19 | g.49061623A>G | CA508279140 | NTF4 | c.375T>C (p.Pro125=) c.243+132T>C (n.243+132T>C) c.405T>C (p.Pro135=) n.420T>C | |
19 | g.49061623A>T | CA508279142 | NTF4 | c.375T>A (p.Pro125=) c.243+132T>A (n.243+132T>A) c.405T>A (p.Pro135=) n.420T>A | |
19 | g.49061624G>A | CA406806274 | NTF4 | c.374C>T (p.Pro125Leu) c.243+131C>T (n.243+131C>T) c.404C>T (p.Pro135Leu) n.419C>T | |
19 | g.49061624G>C | CA406806287 | NTF4 | c.374C>G (p.Pro125Arg) c.243+131C>G (n.243+131C>G) c.404C>G (p.Pro135Arg) n.419C>G | |
19 | g.49061624G>T | CA406806292 | NTF4 | c.374C>A (p.Pro125His) c.243+131C>A (n.243+131C>A) c.404C>A (p.Pro135His) n.419C>A | |
19 | g.49061625G>A | CA406806301 | NTF4 | c.373C>T (p.Pro125Ser) c.243+130C>T (n.243+130C>T) c.403C>T (p.Pro135Ser) n.418C>T | |
19 | g.49061625G>C | CA406806302 | NTF4 | c.373C>G (p.Pro125Ala) c.243+130C>G (n.243+130C>G) c.403C>G (p.Pro135Ala) n.418C>G | |
19 | g.49061625G>T | CA406806303 | NTF4 | c.373C>A (p.Pro125Thr) c.243+130C>A (n.243+130C>A) c.403C>A (p.Pro135Thr) n.418C>A | |
19 | g.49061625_49061626del | CA2560929024 | NTF4 | c.372_373del (p.Pro125CysfsTer13) c.243+129_243+130del (n.243+129_243+130del) c.402_403del (p.Pro135CysfsTer13) n.417_418del | |
19 | g.49061626C>A | CA508279143 | NTF4 | c.372G>T (p.Val124=) c.243+129G>T (n.243+129G>T) c.402G>T (p.Val134=) n.417G>T | gnomAD v4 |
19 | g.49061626C= | CA2340217361 | NTF4 | c.372G= (p.Val124=) c.243+129G= (n.243+129G=) c.402G= (p.Val134=) n.417G= | |
19 | g.49061626C>G | CA508279145 | NTF4 | c.372G>C (p.Val124=) c.243+129G>C (n.243+129G>C) c.402G>C (p.Val134=) n.417G>C | |
19 | g.49061626C>T | CA9565649 | NTF4 | c.372G>A (p.Val124=) c.243+129G>A (n.243+129G>A) c.402G>A (p.Val134=) n.417G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061627A>C | CA406806308 | NTF4 | c.371T>G (p.Val124Gly) c.243+128T>G (n.243+128T>G) c.401T>G (p.Val134Gly) n.416T>G | |
19 | g.49061627A>G | CA406806309 | NTF4 | c.371T>C (p.Val124Ala) c.243+128T>C (n.243+128T>C) c.401T>C (p.Val134Ala) n.416T>C | gnomAD v4 |
19 | g.49061627A>T | CA406806311 | NTF4 | c.371T>A (p.Val124Glu) c.243+128T>A (n.243+128T>A) c.401T>A (p.Val134Glu) n.416T>A | |
19 | g.49061628C>A | CA406806315 | NTF4 | c.370G>T (p.Val124Leu) c.243+127G>T (n.243+127G>T) c.400G>T (p.Val134Leu) n.415G>T | dbSNP |
19 | g.49061628C= | CA2340217362 | NTF4 | c.370G= (p.Val124=) c.243+127G= (n.243+127G=) c.400G= (p.Val134=) n.415G= | |
19 | g.49061628C>G | CA406806313 | NTF4 | c.370G>C (p.Val124Leu) c.243+127G>C (n.243+127G>C) c.400G>C (p.Val134Leu) n.415G>C | |
19 | g.49061628C>T | CA406806314 | NTF4 | c.370G>A (p.Val124Met) c.243+127G>A (n.243+127G>A) c.400G>A (p.Val134Met) n.415G>A | |
19 | g.49061629C>A | CA406806316 | NTF4 | c.369G>T (p.Glu123Asp) c.243+126G>T (n.243+126G>T) c.399G>T (p.Glu133Asp) n.414G>T | gnomAD v4 |
19 | g.49061629C>G | CA406806318 | NTF4 | c.369G>C (p.Glu123Asp) c.243+126G>C (n.243+126G>C) c.399G>C (p.Glu133Asp) n.414G>C | |
19 | g.49061629C>T | CA508279146 | NTF4 | c.369G>A (p.Glu123=) c.243+126G>A (n.243+126G>A) c.399G>A (p.Glu133=) n.414G>A | gnomAD v4 |
19 | g.49061630T>A | CA406806320 | NTF4 | c.368A>T (p.Glu123Val) c.243+125A>T (n.243+125A>T) c.398A>T (p.Glu133Val) n.413A>T | |
19 | g.49061630T>C | CA406806322 | NTF4 | c.368A>G (p.Glu123Gly) c.243+125A>G (n.243+125A>G) c.398A>G (p.Glu133Gly) n.413A>G | |
19 | g.49061630T>G | CA406806325 | NTF4 | c.368A>C (p.Glu123Ala) c.243+125A>C (n.243+125A>C) c.398A>C (p.Glu133Ala) n.413A>C | |
19 | g.49061631C>A | CA406806328 | NTF4 | c.367G>T (p.Glu123Ter) c.243+124G>T (n.243+124G>T) c.397G>T (p.Glu133Ter) n.412G>T | |
19 | g.49061631C= | CA2340217363 | NTF4 | c.367G= (p.Glu123=) c.243+124G= (n.243+124G=) c.397G= (p.Glu133=) n.412G= | |
19 | g.49061631C>G | CA9565651 | NTF4 | c.367G>C (p.Glu123Gln) c.243+124G>C (n.243+124G>C) c.397G>C (p.Glu133Gln) n.412G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49061631C>T | CA9565650 | NTF4 | c.367G>A (p.Glu123Lys) c.243+124G>A (n.243+124G>A) c.397G>A (p.Glu133Lys) n.412G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.49061631_49061636del | CA2568055095 | NTF4 | c.362_367del (p.Leu121Ter) c.243+119_243+124del (n.243+119_243+124del) c.392_397del (p.Leu131Ter) n.407_412del | |
19 | g.49061632del | CA2814676593 | NTF4 | c.366del (p.Glu123ArgfsTer?) c.243+123del (n.243+123del) c.396del (p.Glu133ArgfsTer?) n.411del | |
19 | g.49061632G>A | CA9565652 | NTF4 | c.366C>T (p.Gly122=) c.243+123C>T (n.243+123C>T) c.396C>T (p.Gly132=) n.411C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061632G>C | CA508279150 | NTF4 | c.366C>G (p.Gly122=) c.243+123C>G (n.243+123C>G) c.396C>G (p.Gly132=) n.411C>G | |
19 | g.49061632G= | CA2340217364 | NTF4 | c.366C= (p.Gly122=) c.243+123C= (n.243+123C=) c.396C= (p.Gly132=) n.411C= | |
19 | g.49061632G>T | CA508279151 | NTF4 | c.366C>A (p.Gly122=) c.243+123C>A (n.243+123C>A) c.396C>A (p.Gly132=) n.411C>A | |
19 | g.49061633C>A | CA406806336 | NTF4 | c.365G>T (p.Gly122Val) c.243+122G>T (n.243+122G>T) c.395G>T (p.Gly132Val) n.410G>T | |
19 | g.49061633C>G | CA406806339 | NTF4 | c.365G>C (p.Gly122Ala) c.243+122G>C (n.243+122G>C) c.395G>C (p.Gly132Ala) n.410G>C | |
19 | g.49061633C>T | CA406806341 | NTF4 | c.365G>A (p.Gly122Asp) c.243+122G>A (n.243+122G>A) c.395G>A (p.Gly132Asp) n.410G>A | |
19 | g.49061634C>A | CA406806345 | NTF4 | c.364G>T (p.Gly122Cys) c.243+121G>T (n.243+121G>T) c.394G>T (p.Gly132Cys) n.409G>T | |
19 | g.49061634C>G | CA406806349 | NTF4 | c.364G>C (p.Gly122Arg) c.243+121G>C (n.243+121G>C) c.394G>C (p.Gly132Arg) n.409G>C | |
19 | g.49061634C>T | CA406806347 | NTF4 | c.364G>A (p.Gly122Ser) c.243+121G>A (n.243+121G>A) c.394G>A (p.Gly132Ser) n.409G>A | |
19 | g.49061635C>A | CA406806352 | NTF4 | c.363G>T (p.Leu121Phe) c.243+120G>T (n.243+120G>T) c.393G>T (p.Leu131Phe) n.408G>T | |
19 | g.49061635C>G | CA406806355 | NTF4 | c.363G>C (p.Leu121Phe) c.243+120G>C (n.243+120G>C) c.393G>C (p.Leu131Phe) n.408G>C | |
19 | g.49061635C>T | CA508279154 | NTF4 | c.363G>A (p.Leu121=) c.243+120G>A (n.243+120G>A) c.393G>A (p.Leu131=) n.408G>A | gnomAD v4 |
19 | g.49061636A>C | CA406806356 | NTF4 | c.362T>G (p.Leu121Trp) c.243+119T>G (n.243+119T>G) c.392T>G (p.Leu131Trp) n.407T>G | |
19 | g.49061636A>G | CA406806357 | NTF4 | c.362T>C (p.Leu121Ser) c.243+119T>C (n.243+119T>C) c.392T>C (p.Leu131Ser) n.407T>C | |
19 | g.49061636A>T | CA406806358 | NTF4 | c.362T>A (p.Leu121Ter) c.243+119T>A (n.243+119T>A) c.392T>A (p.Leu131Ter) n.407T>A | |
19 | g.49061637A= | CA2340217365 | NTF4 | c.361T= (p.Leu121=) c.243+118T= (n.243+118T=) c.391T= (p.Leu131=) n.406T= | |
19 | g.49061637A>C | CA406806360 | NTF4 | c.361T>G (p.Leu121Val) c.243+118T>G (n.243+118T>G) c.391T>G (p.Leu131Val) n.406T>G | |
19 | g.49061637A>G | CA9565653 | NTF4 | c.361T>C (p.Leu121=) c.243+118T>C (n.243+118T>C) c.391T>C (p.Leu131=) n.406T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49061637A>T | CA406806363 | NTF4 | c.361T>A (p.Leu121Met) c.243+118T>A (n.243+118T>A) c.391T>A (p.Leu131Met) n.406T>A | |
19 | g.49061638C>A | CA508279155 | NTF4 | c.360G>T (p.Val120=) c.243+117G>T (n.243+117G>T) c.390G>T (p.Val130=) n.405G>T | |
19 | g.49061638C>G | CA508279156 | NTF4 | c.360G>C (p.Val120=) c.243+117G>C (n.243+117G>C) c.390G>C (p.Val130=) n.405G>C | |
19 | g.49061638C>T | CA508279157 | NTF4 | c.360G>A (p.Val120=) c.243+117G>A (n.243+117G>A) c.390G>A (p.Val130=) n.405G>A | |
19 | g.49061639A>C | CA406806366 | NTF4 | c.359T>G (p.Val120Gly) c.243+116T>G (n.243+116T>G) c.389T>G (p.Val130Gly) n.404T>G | |
19 | g.49061639A>G | CA406806367 | NTF4 | c.359T>C (p.Val120Ala) c.243+116T>C (n.243+116T>C) c.389T>C (p.Val130Ala) n.404T>C | |
19 | g.49061639A>T | CA406806370 | NTF4 | c.359T>A (p.Val120Glu) c.243+116T>A (n.243+116T>A) c.389T>A (p.Val130Glu) n.404T>A | gnomAD v4 |