| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13025453C>A | CA404315394 | NFIX | c.457C>A (p.Pro153Thr) c.278C>A c.460C>A (p.Pro154Thr) c.484C>A (p.Pro162Thr) c.469C>A (p.Pro157Thr) c.234+85C>A (n.234+85C>A) c.436C>A (p.Pro146Thr) c.*291C>A (n.*291C>A) c.319C>A (p.Pro107Thr) c.508C>A (p.Pro170Thr) c.637C>A (p.Pro213Thr) | |
| 19 | g.13025453C= | CA2323688945 | NFIX | c.457C= (p.Pro153=) c.278C= c.460C= (p.Pro154=) c.484C= (p.Pro162=) c.469C= (p.Pro157=) c.234+85C= (n.234+85C=) c.436C= (p.Pro146=) c.*291C= (n.*291C=) c.319C= (p.Pro107=) c.508C= (p.Pro170=) c.637C= (p.Pro213=) | |
| 19 | g.13025453C>G | CA404315396 | NFIX | c.457C>G (p.Pro153Ala) c.278C>G c.460C>G (p.Pro154Ala) c.484C>G (p.Pro162Ala) c.469C>G (p.Pro157Ala) c.234+85C>G (n.234+85C>G) c.436C>G (p.Pro146Ala) c.*291C>G (n.*291C>G) c.319C>G (p.Pro107Ala) c.508C>G (p.Pro170Ala) c.637C>G (p.Pro213Ala) | dbSNP |
| 19 | g.13025453C>T | CA305548344 | NFIX | c.457C>T (p.Pro153Ser) c.278C>T c.460C>T (p.Pro154Ser) c.484C>T (p.Pro162Ser) c.469C>T (p.Pro157Ser) c.234+85C>T (n.234+85C>T) c.436C>T (p.Pro146Ser) c.*291C>T (n.*291C>T) c.319C>T (p.Pro107Ser) c.508C>T (p.Pro170Ser) c.637C>T (p.Pro213Ser) | dbSNP |
| 19 | g.13025454C>A | CA404315408 | NFIX | c.458C>A (p.Pro153His) c.279C>A c.461C>A (p.Pro154His) c.485C>A (p.Pro162His) c.470C>A (p.Pro157His) c.234+86C>A (n.234+86C>A) c.437C>A (p.Pro146His) c.*292C>A (n.*292C>A) c.320C>A (p.Pro107His) c.509C>A (p.Pro170His) c.638C>A (p.Pro213His) | |
| 19 | g.13025454C>G | CA404315405 | NFIX | c.458C>G (p.Pro153Arg) c.279C>G c.461C>G (p.Pro154Arg) c.485C>G (p.Pro162Arg) c.470C>G (p.Pro157Arg) c.234+86C>G (n.234+86C>G) c.437C>G (p.Pro146Arg) c.*292C>G (n.*292C>G) c.320C>G (p.Pro107Arg) c.509C>G (p.Pro170Arg) c.638C>G (p.Pro213Arg) | |
| 19 | g.13025454C>T | CA404315403 | NFIX | c.458C>T (p.Pro153Leu) c.279C>T c.461C>T (p.Pro154Leu) c.485C>T (p.Pro162Leu) c.470C>T (p.Pro157Leu) c.234+86C>T (n.234+86C>T) c.437C>T (p.Pro146Leu) c.*292C>T (n.*292C>T) c.320C>T (p.Pro107Leu) c.509C>T (p.Pro170Leu) c.638C>T (p.Pro213Leu) | |
| 19 | g.13025455T>A | CA505780853 | NFIX | c.459T>A (p.Pro153=) c.280T>A c.462T>A (p.Pro154=) c.486T>A (p.Pro162=) c.471T>A (p.Pro157=) c.234+87T>A (n.234+87T>A) c.438T>A (p.Pro146=) c.*293T>A (n.*293T>A) c.321T>A (p.Pro107=) c.510T>A (p.Pro170=) c.639T>A (p.Pro213=) | |
| 19 | g.13025455T>C | CA505780855 | NFIX | c.459T>C (p.Pro153=) c.280T>C c.462T>C (p.Pro154=) c.486T>C (p.Pro162=) c.471T>C (p.Pro157=) c.234+87T>C (n.234+87T>C) c.438T>C (p.Pro146=) c.*293T>C (n.*293T>C) c.321T>C (p.Pro107=) c.510T>C (p.Pro170=) c.639T>C (p.Pro213=) | |
| 19 | g.13025455T>G | CA505780854 | NFIX | c.459T>G (p.Pro153=) c.280T>G c.462T>G (p.Pro154=) c.486T>G (p.Pro162=) c.471T>G (p.Pro157=) c.234+87T>G (n.234+87T>G) c.438T>G (p.Pro146=) c.*293T>G (n.*293T>G) c.321T>G (p.Pro107=) c.510T>G (p.Pro170=) c.639T>G (p.Pro213=) | |
| 19 | g.13025456C>A | CA404315410 | NFIX | c.460C>A (p.Gln154Lys) c.281C>A c.463C>A (p.Gln155Lys) c.487C>A (p.Gln163Lys) c.472C>A (p.Gln158Lys) c.234+88C>A (n.234+88C>A) c.439C>A (p.Gln147Lys) c.*294C>A (n.*294C>A) c.322C>A (p.Gln108Lys) c.511C>A (p.Gln171Lys) c.640C>A (p.Gln214Lys) | |
| 19 | g.13025456C>G | CA404315414 | NFIX | c.460C>G (p.Gln154Glu) c.281C>G c.463C>G (p.Gln155Glu) c.487C>G (p.Gln163Glu) c.472C>G (p.Gln158Glu) c.234+88C>G (n.234+88C>G) c.439C>G (p.Gln147Glu) c.*294C>G (n.*294C>G) c.322C>G (p.Gln108Glu) c.511C>G (p.Gln171Glu) c.640C>G (p.Gln214Glu) | gnomAD v4 |
| 19 | g.13025456C>T | CA404315412 | NFIX | c.460C>T (p.Gln154Ter) c.281C>T c.463C>T (p.Gln155Ter) c.487C>T (p.Gln163Ter) c.472C>T (p.Gln158Ter) c.234+88C>T (n.234+88C>T) c.439C>T (p.Gln147Ter) c.*294C>T (n.*294C>T) c.322C>T (p.Gln108Ter) c.511C>T (p.Gln171Ter) c.640C>T (p.Gln214Ter) | ClinVar |
| 19 | g.13025457A>C | CA404315415 | NFIX | c.461A>C (p.Gln154Pro) c.282A>C c.464A>C (p.Gln155Pro) c.488A>C (p.Gln163Pro) c.473A>C (p.Gln158Pro) c.234+89A>C (n.234+89A>C) c.440A>C (p.Gln147Pro) c.*295A>C (n.*295A>C) c.323A>C (p.Gln108Pro) c.512A>C (p.Gln171Pro) c.641A>C (p.Gln214Pro) | |
| 19 | g.13025457A>G | CA404315416 | NFIX | c.461A>G (p.Gln154Arg) c.282A>G c.464A>G (p.Gln155Arg) c.488A>G (p.Gln163Arg) c.473A>G (p.Gln158Arg) c.234+89A>G (n.234+89A>G) c.440A>G (p.Gln147Arg) c.*295A>G (n.*295A>G) c.323A>G (p.Gln108Arg) c.512A>G (p.Gln171Arg) c.641A>G (p.Gln214Arg) | gnomAD v4 |
| 19 | g.13025457A>T | CA404315419 | NFIX | c.461A>T (p.Gln154Leu) c.282A>T c.464A>T (p.Gln155Leu) c.488A>T (p.Gln163Leu) c.473A>T (p.Gln158Leu) c.234+89A>T (n.234+89A>T) c.440A>T (p.Gln147Leu) c.*295A>T (n.*295A>T) c.323A>T (p.Gln108Leu) c.512A>T (p.Gln171Leu) c.641A>T (p.Gln214Leu) | |
| 19 | g.13025458G>A | CA505780857 | NFIX | c.462G>A (p.Gln154=) c.283G>A c.465G>A (p.Gln155=) c.489G>A (p.Gln163=) c.474G>A (p.Gln158=) c.234+90G>A (n.234+90G>A) c.441G>A (p.Gln147=) c.*296G>A (n.*296G>A) c.324G>A (p.Gln108=) c.513G>A (p.Gln171=) c.642G>A (p.Gln214=) | |
| 19 | g.13025458G>C | CA404315430 | NFIX | c.462G>C (p.Gln154His) c.283G>C c.465G>C (p.Gln155His) c.489G>C (p.Gln163His) c.474G>C (p.Gln158His) c.234+90G>C (n.234+90G>C) c.441G>C (p.Gln147His) c.*296G>C (n.*296G>C) c.324G>C (p.Gln108His) c.513G>C (p.Gln171His) c.642G>C (p.Gln214His) | |
| 19 | g.13025458G>T | CA404315431 | NFIX | c.462G>T (p.Gln154His) c.283G>T c.465G>T (p.Gln155His) c.489G>T (p.Gln163His) c.474G>T (p.Gln158His) c.234+90G>T (n.234+90G>T) c.441G>T (p.Gln147His) c.*296G>T (n.*296G>T) c.324G>T (p.Gln108His) c.513G>T (p.Gln171His) c.642G>T (p.Gln214His) | |
| 19 | g.13025459T>A | CA404315434 | NFIX | c.463T>A (p.Cys155Ser) c.284T>A c.466T>A (p.Cys156Ser) c.490T>A (p.Cys164Ser) c.475T>A (p.Cys159Ser) c.234+91T>A (n.234+91T>A) c.442T>A (p.Cys148Ser) c.*297T>A (n.*297T>A) c.325T>A (p.Cys109Ser) c.514T>A (p.Cys172Ser) c.643T>A (p.Cys215Ser) | |
| 19 | g.13025459T>C | CA404315447 | NFIX | c.463T>C (p.Cys155Arg) c.284T>C c.466T>C (p.Cys156Arg) c.490T>C (p.Cys164Arg) c.475T>C (p.Cys159Arg) c.234+91T>C (n.234+91T>C) c.442T>C (p.Cys148Arg) c.*297T>C (n.*297T>C) c.325T>C (p.Cys109Arg) c.514T>C (p.Cys172Arg) c.643T>C (p.Cys215Arg) | |
| 19 | g.13025459T>G | CA404315453 | NFIX | c.463T>G (p.Cys155Gly) c.284T>G c.466T>G (p.Cys156Gly) c.490T>G (p.Cys164Gly) c.475T>G (p.Cys159Gly) c.234+91T>G (n.234+91T>G) c.442T>G (p.Cys148Gly) c.*297T>G (n.*297T>G) c.325T>G (p.Cys109Gly) c.514T>G (p.Cys172Gly) c.643T>G (p.Cys215Gly) | |
| 19 | g.13025460G>A | CA404315465 | NFIX | c.464G>A (p.Cys155Tyr) c.285G>A c.467G>A (p.Cys156Tyr) c.491G>A (p.Cys164Tyr) c.476G>A (p.Cys159Tyr) c.234+92G>A (n.234+92G>A) c.443G>A (p.Cys148Tyr) c.*298G>A (n.*298G>A) c.326G>A (p.Cys109Tyr) c.515G>A (p.Cys172Tyr) c.644G>A (p.Cys215Tyr) | |
| 19 | g.13025460G>C | CA404315466 | NFIX | c.464G>C (p.Cys155Ser) c.285G>C c.467G>C (p.Cys156Ser) c.491G>C (p.Cys164Ser) c.476G>C (p.Cys159Ser) c.234+92G>C (n.234+92G>C) c.443G>C (p.Cys148Ser) c.*298G>C (n.*298G>C) c.326G>C (p.Cys109Ser) c.515G>C (p.Cys172Ser) c.644G>C (p.Cys215Ser) | ClinVar dbSNP |
| 19 | g.13025460G= | CA2323688946 | NFIX | c.464G= (p.Cys155=) c.285G= c.467G= (p.Cys156=) c.491G= (p.Cys164=) c.476G= (p.Cys159=) c.234+92G= (n.234+92G=) c.443G= (p.Cys148=) c.*298G= (n.*298G=) c.326G= (p.Cys109=) c.515G= (p.Cys172=) c.644G= (p.Cys215=) | |
| 19 | g.13025460G>T | CA404315467 | NFIX | c.464G>T (p.Cys155Phe) c.285G>T c.467G>T (p.Cys156Phe) c.491G>T (p.Cys164Phe) c.476G>T (p.Cys159Phe) c.234+92G>T (n.234+92G>T) c.443G>T (p.Cys148Phe) c.*298G>T (n.*298G>T) c.326G>T (p.Cys109Phe) c.515G>T (p.Cys172Phe) c.644G>T (p.Cys215Phe) | |
| 19 | g.13025461C>A | CA404315481 | NFIX | c.465C>A (p.Cys155Ter) c.286C>A c.468C>A (p.Cys156Ter) c.492C>A (p.Cys164Ter) c.477C>A (p.Cys159Ter) c.234+93C>A (n.234+93C>A) c.444C>A (p.Cys148Ter) c.*299C>A (n.*299C>A) c.327C>A (p.Cys109Ter) c.516C>A (p.Cys172Ter) c.645C>A (p.Cys215Ter) | |
| 19 | g.13025461C= | CA2323688947 | NFIX | c.465C= (p.Cys155=) c.286C= c.468C= (p.Cys156=) c.492C= (p.Cys164=) c.477C= (p.Cys159=) c.234+93C= (n.234+93C=) c.444C= (p.Cys148=) c.*299C= (n.*299C=) c.327C= (p.Cys109=) c.516C= (p.Cys172=) c.645C= (p.Cys215=) | |
| 19 | g.13025461C>G | CA404315476 | NFIX | c.465C>G (p.Cys155Trp) c.286C>G c.468C>G (p.Cys156Trp) c.492C>G (p.Cys164Trp) c.477C>G (p.Cys159Trp) c.234+93C>G (n.234+93C>G) c.444C>G (p.Cys148Trp) c.*299C>G (n.*299C>G) c.327C>G (p.Cys109Trp) c.516C>G (p.Cys172Trp) c.645C>G (p.Cys215Trp) | |
| 19 | g.13025461C>T | CA9236984 | NFIX | c.465C>T (p.Cys155=) c.286C>T c.468C>T (p.Cys156=) c.492C>T (p.Cys164=) c.477C>T (p.Cys159=) c.234+93C>T (n.234+93C>T) c.444C>T (p.Cys148=) c.*299C>T (n.*299C>T) c.327C>T (p.Cys109=) c.516C>T (p.Cys172=) c.645C>T (p.Cys215=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13025462T>A | CA404315482 | NFIX | c.466T>A (p.Ser156Thr) c.287T>A c.469T>A (p.Ser157Thr) c.493T>A (p.Ser165Thr) c.478T>A (p.Ser160Thr) c.234+94T>A (n.234+94T>A) c.445T>A (p.Ser149Thr) c.*300T>A (n.*300T>A) c.328T>A (p.Ser110Thr) c.517T>A (p.Ser173Thr) c.646T>A (p.Ser216Thr) | |
| 19 | g.13025462T>C | CA404315483 | NFIX | c.466T>C (p.Ser156Pro) c.287T>C c.469T>C (p.Ser157Pro) c.493T>C (p.Ser165Pro) c.478T>C (p.Ser160Pro) c.234+94T>C (n.234+94T>C) c.445T>C (p.Ser149Pro) c.*300T>C (n.*300T>C) c.328T>C (p.Ser110Pro) c.517T>C (p.Ser173Pro) c.646T>C (p.Ser216Pro) | |
| 19 | g.13025462T>G | CA404315487 | NFIX | c.466T>G (p.Ser156Ala) c.287T>G c.469T>G (p.Ser157Ala) c.493T>G (p.Ser165Ala) c.478T>G (p.Ser160Ala) c.234+94T>G (n.234+94T>G) c.445T>G (p.Ser149Ala) c.*300T>G (n.*300T>G) c.328T>G (p.Ser110Ala) c.517T>G (p.Ser173Ala) c.646T>G (p.Ser216Ala) | dbSNP gnomAD v4 |
| 19 | g.13025462T= | CA2323688948 | NFIX | c.466T= (p.Ser156=) c.287T= c.469T= (p.Ser157=) c.493T= (p.Ser165=) c.478T= (p.Ser160=) c.234+94T= (n.234+94T=) c.445T= (p.Ser149=) c.*300T= (n.*300T=) c.328T= (p.Ser110=) c.517T= (p.Ser173=) c.646T= (p.Ser216=) | |
| 19 | g.13025463C>A | CA404315489 | NFIX | c.467C>A (p.Ser156Ter) c.288C>A c.470C>A (p.Ser157Ter) c.494C>A (p.Ser165Ter) c.479C>A (p.Ser160Ter) c.234+95C>A (n.234+95C>A) c.446C>A (p.Ser149Ter) c.*301C>A (n.*301C>A) c.329C>A (p.Ser110Ter) c.518C>A (p.Ser173Ter) c.647C>A (p.Ser216Ter) | |
| 19 | g.13025463C= | CA2323688949 | NFIX | c.467C= (p.Ser156=) c.288C= c.470C= (p.Ser157=) c.494C= (p.Ser165=) c.479C= (p.Ser160=) c.234+95C= (n.234+95C=) c.446C= (p.Ser149=) c.*301C= (n.*301C=) c.329C= (p.Ser110=) c.518C= (p.Ser173=) c.647C= (p.Ser216=) | |
| 19 | g.13025463C>G | CA404315505 | NFIX | c.467C>G (p.Ser156Trp) c.288C>G c.470C>G (p.Ser157Trp) c.494C>G (p.Ser165Trp) c.479C>G (p.Ser160Trp) c.234+95C>G (n.234+95C>G) c.446C>G (p.Ser149Trp) c.*301C>G (n.*301C>G) c.329C>G (p.Ser110Trp) c.518C>G (p.Ser173Trp) c.647C>G (p.Ser216Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13025463C>T | CA404315508 | NFIX | c.467C>T (p.Ser156Leu) c.288C>T c.470C>T (p.Ser157Leu) c.494C>T (p.Ser165Leu) c.479C>T (p.Ser160Leu) c.234+95C>T (n.234+95C>T) c.446C>T (p.Ser149Leu) c.*301C>T (n.*301C>T) c.329C>T (p.Ser110Leu) c.518C>T (p.Ser173Leu) c.647C>T (p.Ser216Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13025464G>A | CA505780859 | NFIX | c.468G>A (p.Ser156=) c.289G>A c.471G>A (p.Ser157=) c.495G>A (p.Ser165=) c.480G>A (p.Ser160=) c.234+96G>A (n.234+96G>A) c.447G>A (p.Ser149=) c.*302G>A (n.*302G>A) c.330G>A (p.Ser110=) c.519G>A (p.Ser173=) c.648G>A (p.Ser216=) | dbSNP gnomAD v2 |
| 19 | g.13025464G>C | CA505780860 | NFIX | c.468G>C (p.Ser156=) c.289G>C c.471G>C (p.Ser157=) c.495G>C (p.Ser165=) c.480G>C (p.Ser160=) c.234+96G>C (n.234+96G>C) c.447G>C (p.Ser149=) c.*302G>C (n.*302G>C) c.330G>C (p.Ser110=) c.519G>C (p.Ser173=) c.648G>C (p.Ser216=) | |
| 19 | g.13025464G= | CA2323688950 | NFIX | c.468G= (p.Ser156=) c.289G= c.471G= (p.Ser157=) c.495G= (p.Ser165=) c.480G= (p.Ser160=) c.234+96G= (n.234+96G=) c.447G= (p.Ser149=) c.*302G= (n.*302G=) c.330G= (p.Ser110=) c.519G= (p.Ser173=) c.648G= (p.Ser216=) | |
| 19 | g.13025464G>T | CA505780861 | NFIX | c.468G>T (p.Ser156=) c.289G>T c.471G>T (p.Ser157=) c.495G>T (p.Ser165=) c.480G>T (p.Ser160=) c.234+96G>T (n.234+96G>T) c.447G>T (p.Ser149=) c.*302G>T (n.*302G>T) c.330G>T (p.Ser110=) c.519G>T (p.Ser173=) c.648G>T (p.Ser216=) | |
| 19 | g.13025465A>C | CA404315512 | NFIX | c.469A>C (p.Asn157His) c.290A>C c.472A>C (p.Asn158His) c.496A>C (p.Asn166His) c.481A>C (p.Asn161His) c.234+97A>C (n.234+97A>C) c.448A>C (p.Asn150His) c.*303A>C (n.*303A>C) c.331A>C (p.Asn111His) c.520A>C (p.Asn174His) c.649A>C (p.Asn217His) | |
| 19 | g.13025465A>G | CA404315516 | NFIX | c.469A>G (p.Asn157Asp) c.290A>G c.472A>G (p.Asn158Asp) c.496A>G (p.Asn166Asp) c.481A>G (p.Asn161Asp) c.234+97A>G (n.234+97A>G) c.448A>G (p.Asn150Asp) c.*303A>G (n.*303A>G) c.331A>G (p.Asn111Asp) c.520A>G (p.Asn174Asp) c.649A>G (p.Asn217Asp) | |
| 19 | g.13025465A>T | CA404315519 | NFIX | c.469A>T (p.Asn157Tyr) c.290A>T c.472A>T (p.Asn158Tyr) c.496A>T (p.Asn166Tyr) c.481A>T (p.Asn161Tyr) c.234+97A>T (n.234+97A>T) c.448A>T (p.Asn150Tyr) c.*303A>T (n.*303A>T) c.331A>T (p.Asn111Tyr) c.520A>T (p.Asn174Tyr) c.649A>T (p.Asn217Tyr) | |
| 19 | g.13025466A= | CA2323688951 | NFIX | c.470A= (p.Asn157=) c.291A= c.473A= (p.Asn158=) c.497A= (p.Asn166=) c.482A= (p.Asn161=) c.234+98A= (n.234+98A=) c.449A= (p.Asn150=) c.*304A= (n.*304A=) c.332A= (p.Asn111=) c.521A= (p.Asn174=) c.650A= (p.Asn217=) | |
| 19 | g.13025466A>C | CA404315522 | NFIX | c.470A>C (p.Asn157Thr) c.291A>C c.473A>C (p.Asn158Thr) c.497A>C (p.Asn166Thr) c.482A>C (p.Asn161Thr) c.234+98A>C (n.234+98A>C) c.449A>C (p.Asn150Thr) c.*304A>C (n.*304A>C) c.332A>C (p.Asn111Thr) c.521A>C (p.Asn174Thr) c.650A>C (p.Asn217Thr) | dbSNP |
| 19 | g.13025466A>G | CA404315524 | NFIX | c.470A>G (p.Asn157Ser) c.291A>G c.473A>G (p.Asn158Ser) c.497A>G (p.Asn166Ser) c.482A>G (p.Asn161Ser) c.234+98A>G (n.234+98A>G) c.449A>G (p.Asn150Ser) c.*304A>G (n.*304A>G) c.332A>G (p.Asn111Ser) c.521A>G (p.Asn174Ser) c.650A>G (p.Asn217Ser) | |
| 19 | g.13025466A>T | CA404315527 | NFIX | c.470A>T (p.Asn157Ile) c.291A>T c.473A>T (p.Asn158Ile) c.497A>T (p.Asn166Ile) c.482A>T (p.Asn161Ile) c.234+98A>T (n.234+98A>T) c.449A>T (p.Asn150Ile) c.*304A>T (n.*304A>T) c.332A>T (p.Asn111Ile) c.521A>T (p.Asn174Ile) c.650A>T (p.Asn217Ile) | |
| 19 | g.13025467C>A | CA404315532 | NFIX | c.471C>A (p.Asn157Lys) c.292C>A c.474C>A (p.Asn158Lys) c.498C>A (p.Asn166Lys) c.483C>A (p.Asn161Lys) c.234+99C>A (n.234+99C>A) c.450C>A (p.Asn150Lys) c.*305C>A (n.*305C>A) c.333C>A (p.Asn111Lys) c.522C>A (p.Asn174Lys) c.651C>A (p.Asn217Lys) | gnomAD v4 |