Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.5603332A= | CA1685036847 | FSCN1 | c.908A= (p.Lys303=) c.74A= (p.Lys25=) n.461A= | |
7 | g.5603332A>C | CA366723395 | FSCN1 | c.908A>C (p.Lys303Thr) c.74A>C (p.Lys25Thr) n.461A>C | |
7 | g.5603332A>G | CA4147456 | FSCN1 | c.908A>G (p.Lys303Arg) c.74A>G (p.Lys25Arg) n.461A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603332A>T | CA366723398 | FSCN1 | c.908A>T (p.Lys303Ile) c.74A>T (p.Lys25Ile) n.461A>T | |
7 | g.5603333A= | CA1685036852 | FSCN1 | c.909A= (p.Lys303=) c.75A= (p.Lys25=) n.462A= | |
7 | g.5603333A>C | CA366723402 | FSCN1 | c.909A>C (p.Lys303Asn) c.75A>C (p.Lys25Asn) n.462A>C | |
7 | g.5603333A>G | CA4147457 | FSCN1 | c.909A>G (p.Lys303=) c.75A>G (p.Lys25=) n.462A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603333A>T | CA366723405 | FSCN1 | c.909A>T (p.Lys303Asn) c.75A>T (p.Lys25Asn) n.462A>T | |
7 | g.5603334A>C | CA366723408 | FSCN1 | c.910A>C (p.Lys304Gln) c.76A>C (p.Lys26Gln) n.463A>C | |
7 | g.5603334A>G | CA366723410 | FSCN1 | c.910A>G (p.Lys304Glu) c.76A>G (p.Lys26Glu) n.463A>G | gnomAD v4 |
7 | g.5603334A>T | CA366723417 | FSCN1 | c.910A>T (p.Lys304Ter) c.76A>T (p.Lys26Ter) n.463A>T | |
7 | g.5603335A= | CA1685036856 | FSCN1 | c.911A= (p.Lys304=) c.77A= (p.Lys26=) n.464A= | |
7 | g.5603335A>C | CA366723426 | FSCN1 | c.911A>C (p.Lys304Thr) c.77A>C (p.Lys26Thr) n.464A>C | |
7 | g.5603335A>G | CA366723428 | FSCN1 | c.911A>G (p.Lys304Arg) c.77A>G (p.Lys26Arg) n.464A>G | |
7 | g.5603335A>T | CA4147458 | FSCN1 | c.911A>T (p.Lys304Met) c.77A>T (p.Lys26Met) n.464A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603336G>A | CA453639900 | FSCN1 | c.912G>A (p.Lys304=) c.78G>A (p.Lys26=) n.465G>A | dbSNP gnomAD v2 |
7 | g.5603336G>C | CA366723433 | FSCN1 | c.912G>C (p.Lys304Asn) c.78G>C (p.Lys26Asn) n.465G>C | |
7 | g.5603336G= | CA1685036861 | FSCN1 | c.912G= (p.Lys304=) c.78G= (p.Lys26=) n.465G= | |
7 | g.5603336G>T | CA4147459 | FSCN1 | c.912G>T (p.Lys304Asn) c.78G>T (p.Lys26Asn) n.465G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603337T>A | CA366723440 | FSCN1 | c.913T>A (p.Cys305Ser) c.79T>A (p.Cys27Ser) n.466T>A | |
7 | g.5603337T>C | CA366723442 | FSCN1 | c.913T>C (p.Cys305Arg) c.79T>C (p.Cys27Arg) n.466T>C | |
7 | g.5603337T>G | CA366723445 | FSCN1 | c.913T>G (p.Cys305Gly) c.79T>G (p.Cys27Gly) n.466T>G | |
7 | g.5603338G>A | CA366723454 | FSCN1 | c.914G>A (p.Cys305Tyr) c.80G>A (p.Cys27Tyr) n.467G>A | |
7 | g.5603338G>C | CA366723450 | FSCN1 | c.914G>C (p.Cys305Ser) c.80G>C (p.Cys27Ser) n.467G>C | |
7 | g.5603338G>T | CA366723452 | FSCN1 | c.914G>T (p.Cys305Phe) c.80G>T (p.Cys27Phe) n.467G>T | |
7 | g.5603339T>A | CA366723458 | FSCN1 | c.915T>A (p.Cys305Ter) c.81T>A (p.Cys27Ter) n.468T>A | |
7 | g.5603339T>C | CA453639904 | FSCN1 | c.915T>C (p.Cys305=) c.81T>C (p.Cys27=) n.468T>C | dbSNP |
7 | g.5603339T>G | CA366723460 | FSCN1 | c.915T>G (p.Cys305Trp) c.81T>G (p.Cys27Trp) n.468T>G | |
7 | g.5603339T= | CA1685036866 | FSCN1 | c.915T= (p.Cys305=) c.81T= (p.Cys27=) n.468T= | |
7 | g.5603340G>A | CA366723462 | FSCN1 | c.916G>A (p.Ala306Thr) c.82G>A (p.Ala28Thr) n.469G>A | gnomAD v4 |
7 | g.5603340G>C | CA366723463 | FSCN1 | c.916G>C (p.Ala306Pro) c.82G>C (p.Ala28Pro) n.469G>C | |
7 | g.5603340G>T | CA366723466 | FSCN1 | c.916G>T (p.Ala306Ser) c.82G>T (p.Ala28Ser) n.469G>T | |
7 | g.5603341C>A | CA366723475 | FSCN1 | c.917C>A (p.Ala306Asp) c.83C>A (p.Ala28Asp) n.470C>A | dbSNP |
7 | g.5603341C= | CA1685036868 | FSCN1 | c.917C= (p.Ala306=) c.83C= (p.Ala28=) n.470C= | |
7 | g.5603341C>G | CA366723471 | FSCN1 | c.917C>G (p.Ala306Gly) c.83C>G (p.Ala28Gly) n.470C>G | |
7 | g.5603341C>T | CA366723473 | FSCN1 | c.917C>T (p.Ala306Val) c.83C>T (p.Ala28Val) n.470C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5603342C>A | CA453639905 | FSCN1 | c.918C>A (p.Ala306=) c.84C>A (p.Ala28=) n.471C>A | |
7 | g.5603342C>G | CA453639907 | FSCN1 | c.918C>G (p.Ala306=) c.84C>G (p.Ala28=) n.471C>G | |
7 | g.5603342C>T | CA453639906 | FSCN1 | c.918C>T (p.Ala306=) c.84C>T (p.Ala28=) n.471C>T | |
7 | g.5603343T>A | CA366723478 | FSCN1 | c.919T>A (p.Phe307Ile) c.85T>A (p.Phe29Ile) n.472T>A | |
7 | g.5603343T>C | CA366723482 | FSCN1 | c.919T>C (p.Phe307Leu) c.85T>C (p.Phe29Leu) n.472T>C | |
7 | g.5603343T>G | CA366723484 | FSCN1 | c.919T>G (p.Phe307Val) c.85T>G (p.Phe29Val) n.472T>G | |
7 | g.5603344T>A | CA366723487 | FSCN1 | c.920T>A (p.Phe307Tyr) c.86T>A (p.Phe29Tyr) n.473T>A | |
7 | g.5603344T>C | CA366723489 | FSCN1 | c.920T>C (p.Phe307Ser) c.86T>C (p.Phe29Ser) n.473T>C | |
7 | g.5603344T>G | CA366723491 | FSCN1 | c.920T>G (p.Phe307Cys) c.86T>G (p.Phe29Cys) n.473T>G | |
7 | g.5603345C>A | CA366723500 | FSCN1 | c.921C>A (p.Phe307Leu) c.87C>A (p.Phe29Leu) n.474C>A | |
7 | g.5603345C>G | CA366723502 | FSCN1 | c.921C>G (p.Phe307Leu) c.87C>G (p.Phe29Leu) n.474C>G | |
7 | g.5603345C>T | CA453639908 | FSCN1 | c.921C>T (p.Phe307=) c.87C>T (p.Phe29=) n.474C>T | gnomAD v4 |
7 | g.5603346C>A | CA366723505 | FSCN1 | c.922C>A (p.Arg308Ser) c.88C>A (p.Arg30Ser) n.475C>A | |
7 | g.5603346C= | CA1685036871 | FSCN1 | c.922C= (p.Arg308=) c.88C= (p.Arg30=) n.475C= | |
7 | g.5603346C>G | CA366723511 | FSCN1 | c.922C>G (p.Arg308Gly) c.88C>G (p.Arg30Gly) n.475C>G | |
7 | g.5603346C>T | CA4147460 | FSCN1 | c.922C>T (p.Arg308Cys) c.88C>T (p.Arg30Cys) n.475C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603347G>A | CA4147461 | FSCN1 | c.923G>A (p.Arg308His) c.89G>A (p.Arg30His) n.476G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603347G>C | CA366723515 | FSCN1 | c.923G>C (p.Arg308Pro) c.89G>C (p.Arg30Pro) n.476G>C | gnomAD v4 |
7 | g.5603347G= | CA1685036876 | FSCN1 | c.923G= (p.Arg308=) c.89G= (p.Arg30=) n.476G= | |
7 | g.5603347G>T | CA366723518 | FSCN1 | c.923G>T (p.Arg308Leu) c.89G>T (p.Arg30Leu) n.476G>T | gnomAD v4 |
7 | g.5603348T>A | CA453639909 | FSCN1 | c.924T>A (p.Arg308=) c.90T>A (p.Arg30=) n.477T>A | |
7 | g.5603348T>C | CA453639910 | FSCN1 | c.924T>C (p.Arg308=) c.90T>C (p.Arg30=) n.477T>C | |
7 | g.5603348T>G | CA4147462 | FSCN1 | c.924T>G (p.Arg308=) c.90T>G (p.Arg30=) n.477T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603348T= | CA1685036879 | FSCN1 | c.924T= (p.Arg308=) c.90T= (p.Arg30=) n.477T= | |
7 | g.5603349A>C | CA366723524 | FSCN1 | c.925A>C (p.Thr309Pro) c.91A>C (p.Thr31Pro) n.478A>C | |
7 | g.5603349A>G | CA366723530 | FSCN1 | c.925A>G (p.Thr309Ala) c.91A>G (p.Thr31Ala) n.478A>G | |
7 | g.5603349A>T | CA366723526 | FSCN1 | c.925A>T (p.Thr309Ser) c.91A>T (p.Thr31Ser) n.478A>T | |
7 | g.5603350C>A | CA366723534 | FSCN1 | c.926C>A (p.Thr309Asn) c.92C>A (p.Thr31Asn) n.479C>A | |
7 | g.5603350C>G | CA366723537 | FSCN1 | c.926C>G (p.Thr309Ser) c.92C>G (p.Thr31Ser) n.479C>G | |
7 | g.5603350C>T | CA366723538 | FSCN1 | c.926C>T (p.Thr309Ile) c.92C>T (p.Thr31Ile) n.479C>T | COSMIC |
7 | g.5603351C>A | CA453639911 | FSCN1 | c.927C>A (p.Thr309=) c.93C>A (p.Thr31=) n.480C>A | |
7 | g.5603351C= | CA1685036883 | FSCN1 | c.927C= (p.Thr309=) c.93C= (p.Thr31=) n.480C= | |
7 | g.5603351C>G | CA453639912 | FSCN1 | c.927C>G (p.Thr309=) c.93C>G (p.Thr31=) n.480C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603351C>T | CA453639913 | FSCN1 | c.927C>T (p.Thr309=) c.93C>T (p.Thr31=) n.480C>T | |
7 | g.5603352C>A | CA366723543 | FSCN1 | c.928C>A (p.His310Asn) c.94C>A (p.His32Asn) n.481C>A | |
7 | g.5603352C>G | CA366723545 | FSCN1 | c.928C>G (p.His310Asp) c.94C>G (p.His32Asp) n.481C>G | |
7 | g.5603352C>T | CA366723547 | FSCN1 | c.928C>T (p.His310Tyr) c.94C>T (p.His32Tyr) n.481C>T | |
7 | g.5603353A>C | CA366723551 | FSCN1 | c.929A>C (p.His310Pro) c.95A>C (p.His32Pro) n.482A>C | |
7 | g.5603353A>G | CA366723554 | FSCN1 | c.929A>G (p.His310Arg) c.95A>G (p.His32Arg) n.482A>G | |
7 | g.5603353A>T | CA366723556 | FSCN1 | c.929A>T (p.His310Leu) c.95A>T (p.His32Leu) n.482A>T | |
7 | g.5603354C>A | CA366723560 | FSCN1 | c.930C>A (p.His310Gln) c.96C>A (p.His32Gln) n.483C>A | |
7 | g.5603354C>G | CA366723564 | FSCN1 | c.930C>G (p.His310Gln) c.96C>G (p.His32Gln) n.483C>G | gnomAD v4 |
7 | g.5603354C>T | CA453639914 | FSCN1 | c.930C>T (p.His310=) c.96C>T (p.His32=) n.483C>T | |
7 | g.5603355A= | CA1685036885 | FSCN1 | c.931A= (p.Thr311=) c.97A= (p.Thr33=) n.484A= | |
7 | g.5603355A>C | CA366723571 | FSCN1 | c.931A>C (p.Thr311Pro) c.97A>C (p.Thr33Pro) n.484A>C | |
7 | g.5603355A>G | CA366723566 | FSCN1 | c.931A>G (p.Thr311Ala) c.97A>G (p.Thr33Ala) n.484A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603355A>T | CA366723569 | FSCN1 | c.931A>T (p.Thr311Ser) c.97A>T (p.Thr33Ser) n.484A>T | |
7 | g.5603356C>A | CA366723574 | FSCN1 | c.932C>A (p.Thr311Lys) c.98C>A (p.Thr33Lys) n.485C>A | |
7 | g.5603356C= | CA1685036888 | FSCN1 | c.932C= (p.Thr311=) c.98C= (p.Thr33=) n.485C= | |
7 | g.5603356C>G | CA366723577 | FSCN1 | c.932C>G (p.Thr311Arg) c.98C>G (p.Thr33Arg) n.485C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5603356C>T | CA4147463 | FSCN1 | c.932C>T (p.Thr311Met) c.98C>T (p.Thr33Met) n.485C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603357G>A | CA453639915 | FSCN1 | c.933G>A (p.Thr311=) c.99G>A (p.Thr33=) n.486G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603357G>C | CA453639917 | FSCN1 | c.933G>C (p.Thr311=) c.99G>C (p.Thr33=) n.486G>C | |
7 | g.5603357G= | CA1685036892 | FSCN1 | c.933G= (p.Thr311=) c.99G= (p.Thr33=) n.486G= | |
7 | g.5603357G>T | CA453639916 | FSCN1 | c.933G>T (p.Thr311=) c.99G>T (p.Thr33=) n.486G>T | |
7 | g.5603358G>A | CA366723583 | FSCN1 | c.934G>A (p.Gly312Ser) c.100G>A (p.Gly34Ser) n.487G>A | |
7 | g.5603358G>C | CA366723585 | FSCN1 | c.934G>C (p.Gly312Arg) c.100G>C (p.Gly34Arg) n.487G>C | |
7 | g.5603358G>T | CA366723587 | FSCN1 | c.934G>T (p.Gly312Cys) c.100G>T (p.Gly34Cys) n.487G>T | |
7 | g.5603359G>A | CA366723589 | FSCN1 | c.935G>A (p.Gly312Asp) c.101G>A (p.Gly34Asp) n.488G>A | |
7 | g.5603359G>C | CA366723590 | FSCN1 | c.935G>C (p.Gly312Ala) c.101G>C (p.Gly34Ala) n.488G>C | gnomAD v4 |
7 | g.5603359G= | CA1685036894 | FSCN1 | c.935G= (p.Gly312=) c.101G= (p.Gly34=) n.488G= | |
7 | g.5603359G>T | CA366723592 | FSCN1 | c.935G>T (p.Gly312Val) c.101G>T (p.Gly34Val) n.488G>T | dbSNP gnomAD v2 COSMIC |
7 | g.5603360C>A | CA453639918 | FSCN1 | c.936C>A (p.Gly312=) c.102C>A (p.Gly34=) n.489C>A | |
7 | g.5603360C= | CA1685036896 | FSCN1 | c.936C= (p.Gly312=) c.102C= (p.Gly34=) n.489C= | |
7 | g.5603360C>G | CA453639919 | FSCN1 | c.936C>G (p.Gly312=) c.102C>G (p.Gly34=) n.489C>G | |
7 | g.5603360C>T | CA453639920 | FSCN1 | c.936C>T (p.Gly312=) c.102C>T (p.Gly34=) n.489C>T | dbSNP gnomAD v2 |
7 | g.5603361A>C | CA366723595 | FSCN1 | c.937A>C (p.Lys313Gln) c.103A>C (p.Lys35Gln) n.490A>C | |
7 | g.5603361A>G | CA366723597 | FSCN1 | c.937A>G (p.Lys313Glu) c.103A>G (p.Lys35Glu) n.490A>G | gnomAD v4 |
7 | g.5603361A>T | CA366723600 | FSCN1 | c.937A>T (p.Lys313Ter) c.103A>T (p.Lys35Ter) n.490A>T | |
7 | g.5603362A>C | CA366723609 | FSCN1 | c.938A>C (p.Lys313Thr) c.104A>C (p.Lys35Thr) n.491A>C | |
7 | g.5603362A>G | CA366723606 | FSCN1 | c.938A>G (p.Lys313Arg) c.104A>G (p.Lys35Arg) n.491A>G | COSMIC |
7 | g.5603362A>T | CA366723603 | FSCN1 | c.938A>T (p.Lys313Met) c.104A>T (p.Lys35Met) n.491A>T | |
7 | g.5603363G>A | CA453639921 | FSCN1 | c.939G>A (p.Lys313=) c.105G>A (p.Lys35=) n.492G>A | |
7 | g.5603363G>C | CA4147464 | FSCN1 | c.939G>C (p.Lys313Asn) c.105G>C (p.Lys35Asn) n.492G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603363G= | CA1685036898 | FSCN1 | c.939G= (p.Lys313=) c.105G= (p.Lys35=) n.492G= | |
7 | g.5603363G>T | CA366723612 | FSCN1 | c.939G>T (p.Lys313Asn) c.105G>T (p.Lys35Asn) n.492G>T | |
7 | g.5603364T>A | CA366723614 | FSCN1 | c.940T>A (p.Tyr314Asn) c.106T>A (p.Tyr36Asn) n.493T>A | |
7 | g.5603364T>C | CA366723617 | FSCN1 | c.940T>C (p.Tyr314His) c.106T>C (p.Tyr36His) n.493T>C | |
7 | g.5603364T>G | CA366723620 | FSCN1 | c.940T>G (p.Tyr314Asp) c.106T>G (p.Tyr36Asp) n.493T>G | |
7 | g.5603365A>C | CA366723621 | FSCN1 | c.941A>C (p.Tyr314Ser) c.107A>C (p.Tyr36Ser) n.494A>C | |
7 | g.5603365A>G | CA366723623 | FSCN1 | c.941A>G (p.Tyr314Cys) c.107A>G (p.Tyr36Cys) n.494A>G | |
7 | g.5603365A>T | CA366723626 | FSCN1 | c.941A>T (p.Tyr314Phe) c.107A>T (p.Tyr36Phe) n.494A>T | |
7 | g.5603366C>A | CA366723628 | FSCN1 | c.942C>A (p.Tyr314Ter) c.108C>A (p.Tyr36Ter) n.495C>A | |
7 | g.5603366C>G | CA366723629 | FSCN1 | c.942C>G (p.Tyr314Ter) c.108C>G (p.Tyr36Ter) n.495C>G | |
7 | g.5603366C>T | CA453639922 | FSCN1 | c.942C>T (p.Tyr314=) c.108C>T (p.Tyr36=) n.495C>T | gnomAD v4 |
7 | g.5603367T>A | CA366723630 | FSCN1 | c.943T>A (p.Trp315Arg) c.109T>A (p.Trp37Arg) n.496T>A | |
7 | g.5603367T>C | CA366723632 | FSCN1 | c.943T>C (p.Trp315Arg) c.109T>C (p.Trp37Arg) n.496T>C | |
7 | g.5603367T>G | CA366723635 | FSCN1 | c.943T>G (p.Trp315Gly) c.109T>G (p.Trp37Gly) n.496T>G | |
7 | g.5603368G>A | CA366723642 | FSCN1 | c.944G>A (p.Trp315Ter) c.110G>A (p.Trp37Ter) n.497G>A | |
7 | g.5603368G>C | CA366723644 | FSCN1 | c.944G>C (p.Trp315Ser) c.110G>C (p.Trp37Ser) n.497G>C | |
7 | g.5603368G>T | CA366723639 | FSCN1 | c.944G>T (p.Trp315Leu) c.110G>T (p.Trp37Leu) n.497G>T | |
7 | g.5603369G>A | CA366723646 | FSCN1 | c.945G>A (p.Trp315Ter) c.111G>A (p.Trp37Ter) n.498G>A | |
7 | g.5603369G>C | CA366723651 | FSCN1 | c.945G>C (p.Trp315Cys) c.111G>C (p.Trp37Cys) n.498G>C | |
7 | g.5603369G>T | CA366723648 | FSCN1 | c.945G>T (p.Trp315Cys) c.111G>T (p.Trp37Cys) n.498G>T | |
7 | g.5603370A>C | CA366723653 | FSCN1 | c.946A>C (p.Thr316Pro) c.112A>C (p.Thr38Pro) n.499A>C | gnomAD v4 |
7 | g.5603370A>G | CA366723659 | FSCN1 | c.946A>G (p.Thr316Ala) c.112A>G (p.Thr38Ala) n.499A>G | |
7 | g.5603370A>T | CA366723656 | FSCN1 | c.946A>T (p.Thr316Ser) c.112A>T (p.Thr38Ser) n.499A>T | |
7 | g.5603371C>A | CA366723662 | FSCN1 | c.947C>A (p.Thr316Lys) c.113C>A (p.Thr38Lys) n.500C>A | |
7 | g.5603371C= | CA1685036899 | FSCN1 | c.947C= (p.Thr316=) c.113C= (p.Thr38=) n.500C= | |
7 | g.5603371C>G | CA366723665 | FSCN1 | c.947C>G (p.Thr316Arg) c.113C>G (p.Thr38Arg) n.500C>G | |
7 | g.5603371C>T | CA4147465 | FSCN1 | c.947C>T (p.Thr316Met) c.113C>T (p.Thr38Met) n.500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.5603372G>A | CA4147466 | FSCN1 | c.948G>A (p.Thr316=) c.114G>A (p.Thr38=) n.501G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603372G>C | CA453639923 | FSCN1 | c.948G>C (p.Thr316=) c.114G>C (p.Thr38=) n.501G>C | |
7 | g.5603372G= | CA1685036903 | FSCN1 | c.948G= (p.Thr316=) c.114G= (p.Thr38=) n.501G= | |
7 | g.5603372G>T | CA453639924 | FSCN1 | c.948G>T (p.Thr316=) c.114G>T (p.Thr38=) n.501G>T | |
7 | g.5603373C>A | CA366723671 | FSCN1 | c.949C>A (p.Leu317Met) c.115C>A (p.Leu39Met) n.502C>A | |
7 | g.5603373C>G | CA366723673 | FSCN1 | c.949C>G (p.Leu317Val) c.115C>G (p.Leu39Val) n.502C>G | |
7 | g.5603373C>T | CA453639925 | FSCN1 | c.949C>T (p.Leu317=) c.115C>T (p.Leu39=) n.502C>T | |
7 | g.5603374T>A | CA366723679 | FSCN1 | c.950T>A (p.Leu317Gln) c.116T>A (p.Leu39Gln) n.503T>A | COSMIC |
7 | g.5603374T>C | CA366723683 | FSCN1 | c.950T>C (p.Leu317Pro) c.116T>C (p.Leu39Pro) n.503T>C | dbSNP gnomAD v4 |
7 | g.5603374T>G | CA366723685 | FSCN1 | c.950T>G (p.Leu317Arg) c.116T>G (p.Leu39Arg) n.503T>G | |
7 | g.5603374T= | CA1685036906 | FSCN1 | c.950T= (p.Leu317=) c.116T= (p.Leu39=) n.503T= | |
7 | g.5603375G>A | CA453639926 | FSCN1 | c.951G>A (p.Leu317=) c.117G>A (p.Leu39=) n.504G>A | |
7 | g.5603375G>C | CA453639927 | FSCN1 | c.951G>C (p.Leu317=) c.117G>C (p.Leu39=) n.504G>C | |
7 | g.5603375G>T | CA453639928 | FSCN1 | c.951G>T (p.Leu317=) c.117G>T (p.Leu39=) n.504G>T | |
7 | g.5603376A>C | CA366723690 | FSCN1 | c.952A>C (p.Thr318Pro) c.118A>C (p.Thr40Pro) n.505A>C | |
7 | g.5603376A>G | CA366723693 | FSCN1 | c.952A>G (p.Thr318Ala) c.118A>G (p.Thr40Ala) n.505A>G | |
7 | g.5603376A>T | CA366723696 | FSCN1 | c.952A>T (p.Thr318Ser) c.118A>T (p.Thr40Ser) n.505A>T | |
7 | g.5603377C>A | CA366723713 | FSCN1 | c.953C>A (p.Thr318Lys) c.119C>A (p.Thr40Lys) n.506C>A | |
7 | g.5603377C= | CA1685036911 | FSCN1 | c.953C= (p.Thr318=) c.119C= (p.Thr40=) n.506C= | |
7 | g.5603377C>G | CA366723707 | FSCN1 | c.953C>G (p.Thr318Arg) c.119C>G (p.Thr40Arg) n.506C>G | |
7 | g.5603377C>T | CA4147467 | FSCN1 | c.953C>T (p.Thr318Met) c.119C>T (p.Thr40Met) n.506C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603378G>A | CA4147468 | FSCN1 | c.954G>A (p.Thr318=) c.120G>A (p.Thr40=) n.507G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603378G>C | CA453639929 | FSCN1 | c.954G>C (p.Thr318=) c.120G>C (p.Thr40=) n.507G>C | |
7 | g.5603378G= | CA1685036914 | FSCN1 | c.954G= (p.Thr318=) c.120G= (p.Thr40=) n.507G= | |
7 | g.5603378G>T | CA453639930 | FSCN1 | c.954G>T (p.Thr318=) c.120G>T (p.Thr40=) n.507G>T | dbSNP gnomAD v4 |
7 | g.5603379G>A | CA366723722 | FSCN1 | c.955G>A (p.Ala319Thr) c.121G>A (p.Ala41Thr) n.508G>A | |
7 | g.5603379G>C | CA366723724 | FSCN1 | c.955G>C (p.Ala319Pro) c.121G>C (p.Ala41Pro) n.508G>C | |
7 | g.5603379G>T | CA366723726 | FSCN1 | c.955G>T (p.Ala319Ser) c.121G>T (p.Ala41Ser) n.508G>T | |
7 | g.5603380C>A | CA366723730 | FSCN1 | c.956C>A (p.Ala319Asp) c.122C>A (p.Ala41Asp) n.509C>A | |
7 | g.5603380C>G | CA366723734 | FSCN1 | c.956C>G (p.Ala319Gly) c.122C>G (p.Ala41Gly) n.509C>G | |
7 | g.5603380C>T | CA366723737 | FSCN1 | c.956C>T (p.Ala319Val) c.122C>T (p.Ala41Val) n.509C>T | |
7 | g.5603381C>A | CA453639931 | FSCN1 | c.957C>A (p.Ala319=) c.123C>A (p.Ala41=) n.510C>A | |
7 | g.5603381C>G | CA453639932 | FSCN1 | c.957C>G (p.Ala319=) c.123C>G (p.Ala41=) n.510C>G | |
7 | g.5603381C>T | CA453639933 | FSCN1 | c.957C>T (p.Ala319=) c.123C>T (p.Ala41=) n.510C>T | |
7 | g.5603382A>C | CA366723742 | FSCN1 | c.958A>C (p.Thr320Pro) c.124A>C (p.Thr42Pro) n.511A>C | |
7 | g.5603382A>G | CA366723745 | FSCN1 | c.958A>G (p.Thr320Ala) c.124A>G (p.Thr42Ala) n.511A>G | |
7 | g.5603382A>T | CA366723748 | FSCN1 | c.958A>T (p.Thr320Ser) c.124A>T (p.Thr42Ser) n.511A>T | |
7 | g.5603383C>A | CA366723756 | FSCN1 | c.959C>A (p.Thr320Asn) c.125C>A (p.Thr42Asn) n.512C>A | |
7 | g.5603383C>G | CA366723755 | FSCN1 | c.959C>G (p.Thr320Ser) c.125C>G (p.Thr42Ser) n.512C>G | |
7 | g.5603383C>T | CA366723753 | FSCN1 | c.959C>T (p.Thr320Ile) c.125C>T (p.Thr42Ile) n.512C>T | |
7 | g.5603384C>A | CA453639937 | FSCN1 | c.960C>A (p.Thr320=) c.126C>A (p.Thr42=) n.513C>A | |
7 | g.5603384C= | CA1685036922 | FSCN1 | c.960C= (p.Thr320=) c.126C= (p.Thr42=) n.513C= | |
7 | g.5603384C>G | CA453639938 | FSCN1 | c.960C>G (p.Thr320=) c.126C>G (p.Thr42=) n.513C>G | |
7 | g.5603384C>T | CA4147469 | FSCN1 | c.960C>T (p.Thr320=) c.126C>T (p.Thr42=) n.513C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603385G>A | CA366723762 | FSCN1 | c.961G>A (p.Gly321Arg) c.127G>A (p.Gly43Arg) n.514G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.5603385G>C | CA366723764 | FSCN1 | c.961G>C (p.Gly321Arg) c.127G>C (p.Gly43Arg) n.514G>C | |
7 | g.5603385G= | CA1685036925 | FSCN1 | c.961G= (p.Gly321=) c.127G= (p.Gly43=) n.514G= | |
7 | g.5603385G>T | CA366723767 | FSCN1 | c.961G>T (p.Gly321Trp) c.127G>T (p.Gly43Trp) n.514G>T | |
7 | g.5603389del | CA2681654514 | FSCN1 | c.965del (p.Gly322AlafsTer26) c.131del (p.Gly44AlafsTer26) n.518del | gnomAD v4 |
7 | g.5603386G>A | CA366723769 | FSCN1 | c.962G>A (p.Gly321Glu) c.128G>A (p.Gly43Glu) n.515G>A | |
7 | g.5603386G>C | CA366723771 | FSCN1 | c.962G>C (p.Gly321Ala) c.128G>C (p.Gly43Ala) n.515G>C | |
7 | g.5603386G>T | CA366723773 | FSCN1 | c.962G>T (p.Gly321Val) c.128G>T (p.Gly43Val) n.515G>T | |
7 | g.5603387G>A | CA4147470 | FSCN1 | c.963G>A (p.Gly321=) c.129G>A (p.Gly43=) n.516G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603387G>C | CA453639941 | FSCN1 | c.963G>C (p.Gly321=) c.129G>C (p.Gly43=) n.516G>C | |
7 | g.5603387G= | CA1685036929 | FSCN1 | c.963G= (p.Gly321=) c.129G= (p.Gly43=) n.516G= | |
7 | g.5603387G>T | CA453639942 | FSCN1 | c.963G>T (p.Gly321=) c.129G>T (p.Gly43=) n.516G>T | |
7 | g.5603388G>A | CA366723778 | FSCN1 | c.964G>A (p.Gly322Ser) c.130G>A (p.Gly44Ser) n.517G>A | |
7 | g.5603388G>C | CA366723780 | FSCN1 | c.964G>C (p.Gly322Arg) c.130G>C (p.Gly44Arg) n.517G>C | |
7 | g.5603388G>T | CA366723783 | FSCN1 | c.964G>T (p.Gly322Cys) c.130G>T (p.Gly44Cys) n.517G>T | |
7 | g.5603389G>A | CA4147471 | FSCN1 | c.965G>A (p.Gly322Asp) c.131G>A (p.Gly44Asp) n.518G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603389G>C | CA366723790 | FSCN1 | c.965G>C (p.Gly322Ala) c.131G>C (p.Gly44Ala) n.518G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603389G= | CA1685036935 | FSCN1 | c.965G= (p.Gly322=) c.131G= (p.Gly44=) n.518G= | |
7 | g.5603389G>T | CA366723787 | FSCN1 | c.965G>T (p.Gly322Val) c.131G>T (p.Gly44Val) n.518G>T | |
7 | g.5603390C>A | CA453639945 | FSCN1 | c.966C>A (p.Gly322=) c.132C>A (p.Gly44=) n.519C>A | |
7 | g.5603390C= | CA1685036941 | FSCN1 | c.966C= (p.Gly322=) c.132C= (p.Gly44=) n.519C= | |
7 | g.5603390C>G | CA453639946 | FSCN1 | c.966C>G (p.Gly322=) c.132C>G (p.Gly44=) n.519C>G | |
7 | g.5603390C>T | CA4147472 | FSCN1 | c.966C>T (p.Gly322=) c.132C>T (p.Gly44=) n.519C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603391G>A | CA4147473 | FSCN1 | c.967G>A (p.Val323Met) c.133G>A (p.Val45Met) n.520G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.5603391G>C | CA366723799 | FSCN1 | c.967G>C (p.Val323Leu) c.133G>C (p.Val45Leu) n.520G>C | |
7 | g.5603391G= | CA1685036946 | FSCN1 | c.967G= (p.Val323=) c.133G= (p.Val45=) n.520G= | |
7 | g.5603391G>T | CA366723802 | FSCN1 | c.967G>T (p.Val323Leu) c.133G>T (p.Val45Leu) n.520G>T | |
7 | g.5603392T>A | CA366723806 | FSCN1 | c.968T>A (p.Val323Glu) c.134T>A (p.Val45Glu) n.521T>A | |
7 | g.5603392T>C | CA366723808 | FSCN1 | c.968T>C (p.Val323Ala) c.134T>C (p.Val45Ala) n.521T>C | |
7 | g.5603392T>G | CA366723810 | FSCN1 | c.968T>G (p.Val323Gly) c.134T>G (p.Val45Gly) n.521T>G | |
7 | g.5603393G>A | CA453639948 | FSCN1 | c.969G>A (p.Val323=) c.135G>A (p.Val45=) n.522G>A | |
7 | g.5603393G>C | CA453639949 | FSCN1 | c.969G>C (p.Val323=) c.135G>C (p.Val45=) n.522G>C | |
7 | g.5603393G= | CA1685036951 | FSCN1 | c.969G= (p.Val323=) c.135G= (p.Val45=) n.522G= | |
7 | g.5603393G>T | CA453639950 | FSCN1 | c.969G>T (p.Val323=) c.135G>T (p.Val45=) n.522G>T | dbSNP |
7 | g.5603394C>A | CA366723814 | FSCN1 | c.970C>A (p.Gln324Lys) c.136C>A (p.Gln46Lys) n.523C>A | |
7 | g.5603394C>G | CA366723817 | FSCN1 | c.970C>G (p.Gln324Glu) c.136C>G (p.Gln46Glu) n.523C>G | gnomAD v4 |
7 | g.5603394C>T | CA366723820 | FSCN1 | c.970C>T (p.Gln324Ter) c.136C>T (p.Gln46Ter) n.523C>T | |
7 | g.5603395A>C | CA366723823 | FSCN1 | c.971A>C (p.Gln324Pro) c.137A>C (p.Gln46Pro) n.524A>C | |
7 | g.5603395A>G | CA366723826 | FSCN1 | c.971A>G (p.Gln324Arg) c.137A>G (p.Gln46Arg) n.524A>G | gnomAD v4 |
7 | g.5603395A>T | CA366723829 | FSCN1 | c.971A>T (p.Gln324Leu) c.137A>T (p.Gln46Leu) n.524A>T | |
7 | g.5603396G>A | CA453639951 | FSCN1 | c.972G>A (p.Gln324=) c.138G>A (p.Gln46=) n.525G>A | dbSNP |
7 | g.5603396G>C | CA366723833 | FSCN1 | c.972G>C (p.Gln324His) c.138G>C (p.Gln46His) n.525G>C | |
7 | g.5603396G= | CA1685036954 | FSCN1 | c.972G= (p.Gln324=) c.138G= (p.Gln46=) n.525G= | |
7 | g.5603396G>T | CA366723835 | FSCN1 | c.972G>T (p.Gln324His) c.138G>T (p.Gln46His) n.525G>T | |
7 | g.5603397T>A | CA366723840 | FSCN1 | c.973T>A (p.Ser325Thr) c.139T>A (p.Ser47Thr) n.526T>A | |
7 | g.5603397T>C | CA4147474 | FSCN1 | c.973T>C (p.Ser325Pro) c.139T>C (p.Ser47Pro) n.526T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.5603397T>G | CA4147475 | FSCN1 | c.973T>G (p.Ser325Ala) c.139T>G (p.Ser47Ala) n.526T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603397T= | CA1685036959 | FSCN1 | c.973T= (p.Ser325=) c.139T= (p.Ser47=) n.526T= | |
7 | g.5603398C>A | CA366723849 | FSCN1 | c.974C>A (p.Ser325Tyr) c.140C>A (p.Ser47Tyr) n.527C>A | |
7 | g.5603398C>G | CA366723852 | FSCN1 | c.974C>G (p.Ser325Cys) c.140C>G (p.Ser47Cys) n.527C>G | gnomAD v4 |
7 | g.5603398C>T | CA366723855 | FSCN1 | c.974C>T (p.Ser325Phe) c.140C>T (p.Ser47Phe) n.527C>T | |
7 | g.5603399C>A | CA453639954 | FSCN1 | c.975C>A (p.Ser325=) c.141C>A (p.Ser47=) n.528C>A | gnomAD v4 |
7 | g.5603399C= | CA1685036965 | FSCN1 | c.975C= (p.Ser325=) c.141C= (p.Ser47=) n.528C= | |
7 | g.5603399C>G | CA453639955 | FSCN1 | c.975C>G (p.Ser325=) c.141C>G (p.Ser47=) n.528C>G | |
7 | g.5603399C>T | CA453639953 | FSCN1 | c.975C>T (p.Ser325=) c.141C>T (p.Ser47=) n.528C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603400A>C | CA366723859 | FSCN1 | c.976A>C (p.Thr326Pro) c.142A>C (p.Thr48Pro) n.529A>C | |
7 | g.5603400A>G | CA366723862 | FSCN1 | c.976A>G (p.Thr326Ala) c.142A>G (p.Thr48Ala) n.529A>G | |
7 | g.5603400A>T | CA366723865 | FSCN1 | c.976A>T (p.Thr326Ser) c.142A>T (p.Thr48Ser) n.529A>T | |
7 | g.5603401C>A | CA366723869 | FSCN1 | c.977C>A (p.Thr326Asn) c.143C>A (p.Thr48Asn) n.530C>A | gnomAD v4 |
7 | g.5603401C= | CA1685036969 | FSCN1 | c.977C= (p.Thr326=) c.143C= (p.Thr48=) n.530C= | |
7 | g.5603401C>G | CA366723870 | FSCN1 | c.977C>G (p.Thr326Ser) c.143C>G (p.Thr48Ser) n.530C>G | |
7 | g.5603401C>T | CA366723873 | FSCN1 | c.977C>T (p.Thr326Ile) c.143C>T (p.Thr48Ile) n.530C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5603402C>A | CA453639957 | FSCN1 | c.978C>A (p.Thr326=) c.144C>A (p.Thr48=) n.531C>A | |
7 | g.5603402C= | CA1685036974 | FSCN1 | c.978C= (p.Thr326=) c.144C= (p.Thr48=) n.531C= | |
7 | g.5603402C>G | CA453639958 | FSCN1 | c.978C>G (p.Thr326=) c.144C>G (p.Thr48=) n.531C>G | |
7 | g.5603402C>T | CA4147476 | FSCN1 | c.978C>T (p.Thr326=) c.144C>T (p.Thr48=) n.531C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603403G>A | CA366723886 | FSCN1 | c.979G>A (p.Ala327Thr) c.145G>A (p.Ala49Thr) n.532G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.5603403G>C | CA366723883 | FSCN1 | c.979G>C (p.Ala327Pro) c.145G>C (p.Ala49Pro) n.532G>C | |
7 | g.5603403G= | CA1685036977 | FSCN1 | c.979G= (p.Ala327=) c.145G= (p.Ala49=) n.532G= | |
7 | g.5603403G>T | CA366723880 | FSCN1 | c.979G>T (p.Ala327Ser) c.145G>T (p.Ala49Ser) n.532G>T | |
7 | g.5603404C>A | CA366723888 | FSCN1 | c.980C>A (p.Ala327Asp) c.146C>A (p.Ala49Asp) n.533C>A | |
7 | g.5603404C>G | CA366723891 | FSCN1 | c.980C>G (p.Ala327Gly) c.146C>G (p.Ala49Gly) n.533C>G | |
7 | g.5603404C>T | CA366723894 | FSCN1 | c.980C>T (p.Ala327Val) c.146C>T (p.Ala49Val) n.533C>T | |
7 | g.5603405C>A | CA453639964 | FSCN1 | c.981C>A (p.Ala327=) c.147C>A (p.Ala49=) n.534C>A | |
7 | g.5603405C= | CA1685036980 | FSCN1 | c.981C= (p.Ala327=) c.147C= (p.Ala49=) n.534C= | |
7 | g.5603405C>G | CA453639963 | FSCN1 | c.981C>G (p.Ala327=) c.147C>G (p.Ala49=) n.534C>G | |
7 | g.5603405C>T | CA453639962 | FSCN1 | c.981C>T (p.Ala327=) c.147C>T (p.Ala49=) n.534C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5603406T>A | CA366723897 | FSCN1 | c.982T>A (p.Ser328Thr) c.148T>A (p.Ser50Thr) n.535T>A | |
7 | g.5603406T>C | CA366723900 | FSCN1 | c.982T>C (p.Ser328Pro) c.148T>C (p.Ser50Pro) n.535T>C | |
7 | g.5603406T>G | CA366723903 | FSCN1 | c.982T>G (p.Ser328Ala) c.148T>G (p.Ser50Ala) n.535T>G | |
7 | g.5603407C>A | CA366723905 | FSCN1 | c.983C>A (p.Ser328Tyr) c.149C>A (p.Ser50Tyr) n.536C>A | |
7 | g.5603407C= | CA1685036983 | FSCN1 | c.983C= (p.Ser328=) c.149C= (p.Ser50=) n.536C= | |
7 | g.5603407C>G | CA366723906 | FSCN1 | c.983C>G (p.Ser328Cys) c.149C>G (p.Ser50Cys) n.536C>G | |
7 | g.5603407C>T | CA4147477 | FSCN1 | c.983C>T (p.Ser328Phe) c.149C>T (p.Ser50Phe) n.536C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603408C>A | CA453639968 | FSCN1 | c.984C>A (p.Ser328=) c.150C>A (p.Ser50=) n.537C>A | |
7 | g.5603408C= | CA1685036988 | FSCN1 | c.984C= (p.Ser328=) c.150C= (p.Ser50=) n.537C= | |
7 | g.5603408C>G | CA453639969 | FSCN1 | c.984C>G (p.Ser328=) c.150C>G (p.Ser50=) n.537C>G | |
7 | g.5603408C>T | CA453639970 | FSCN1 | c.984C>T (p.Ser328=) c.150C>T (p.Ser50=) n.537C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603409A= | CA1685036991 | FSCN1 | c.985A= (p.Ser329=) c.151A= (p.Ser51=) n.538A= | |
7 | g.5603409A>C | CA366723907 | FSCN1 | c.985A>C (p.Ser329Arg) c.151A>C (p.Ser51Arg) n.538A>C | gnomAD v4 |
7 | g.5603409A>G | CA366723908 | FSCN1 | c.985A>G (p.Ser329Gly) c.151A>G (p.Ser51Gly) n.538A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.5603409A>T | CA366723909 | FSCN1 | c.985A>T (p.Ser329Cys) c.151A>T (p.Ser51Cys) n.538A>T | |
7 | g.5603410G>A | CA366723911 | FSCN1 | c.986G>A (p.Ser329Asn) c.152G>A (p.Ser51Asn) n.539G>A | |
7 | g.5603410G>C | CA366723912 | FSCN1 | c.986G>C (p.Ser329Thr) c.152G>C (p.Ser51Thr) n.539G>C | |
7 | g.5603410G>T | CA366723910 | FSCN1 | c.986G>T (p.Ser329Ile) c.152G>T (p.Ser51Ile) n.539G>T | |
7 | g.5603411C>A | CA366723913 | FSCN1 | c.987C>A (p.Ser329Arg) c.153C>A (p.Ser51Arg) n.540C>A | |
7 | g.5603411C>G | CA366723914 | FSCN1 | c.987C>G (p.Ser329Arg) c.153C>G (p.Ser51Arg) n.540C>G | |
7 | g.5603411C>T | CA453639974 | FSCN1 | c.987C>T (p.Ser329=) c.153C>T (p.Ser51=) n.540C>T | |
7 | g.5603412A>C | CA366723915 | FSCN1 | c.988A>C (p.Lys330Gln) c.154A>C (p.Lys52Gln) n.541A>C | |
7 | g.5603412A>G | CA366723916 | FSCN1 | c.988A>G (p.Lys330Glu) c.154A>G (p.Lys52Glu) n.541A>G | gnomAD v4 |
7 | g.5603412A>T | CA366723917 | FSCN1 | c.988A>T (p.Lys330Ter) c.154A>T (p.Lys52Ter) n.541A>T | |
7 | g.5603413A>C | CA366723918 | FSCN1 | c.989A>C (p.Lys330Thr) c.155A>C (p.Lys52Thr) n.542A>C | gnomAD v4 |
7 | g.5603413A>G | CA366723919 | FSCN1 | c.989A>G (p.Lys330Arg) c.155A>G (p.Lys52Arg) n.542A>G | |
7 | g.5603413A>T | CA366723920 | FSCN1 | c.989A>T (p.Lys330Met) c.155A>T (p.Lys52Met) n.542A>T | |
7 | g.5603414G>A | CA366723921 | FSCN1 | c.989+1G>A (n.989+1G>A) c.155+1G>A (n.155+1G>A) n.542+1G>A | |
7 | g.5603414G>C | CA366723922 | FSCN1 | c.989+1G>C (n.989+1G>C) c.155+1G>C (n.155+1G>C) n.542+1G>C | |
7 | g.5603414G>T | CA366723923 | FSCN1 | c.989+1G>T (n.989+1G>T) c.155+1G>T (n.155+1G>T) n.542+1G>T | |
7 | g.5603415_5603496del | CA2681654515 | FSCN1 | c.989+2_990del c.155+2_156del n.542+2_543del | gnomAD v4 |
7 | g.5603415T>A | CA366723924 | FSCN1 | c.989+2T>A (n.989+2T>A) c.155+2T>A (n.155+2T>A) n.542+2T>A | |
7 | g.5603415T>C | CA366723925 | FSCN1 | c.989+2T>C (n.989+2T>C) c.155+2T>C (n.155+2T>C) n.542+2T>C | |
7 | g.5603415T>G | CA366723926 | FSCN1 | c.989+2T>G (n.989+2T>G) c.155+2T>G (n.155+2T>G) n.542+2T>G | |
7 | g.5603416G>A | CA2681654516 | FSCN1 | c.989+3G>A (n.989+3G>A) c.155+3G>A (n.155+3G>A) n.542+3G>A | gnomAD v4 |
7 | g.5603420G>A | CA4147478 | FSCN1 | c.989+7G>A (n.989+7G>A) c.155+7G>A (n.155+7G>A) n.542+7G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603420G= | CA1685036995 | FSCN1 | c.989+7G= (n.989+7G=) c.155+7G= (n.155+7G=) n.542+7G= | |
7 | g.5603421C>T | CA2578822419 | FSCN1 | c.989+8C>T (n.989+8C>T) c.155+8C>T (n.155+8C>T) n.542+8C>T | |
7 | g.5603422C>G | CA2544503467 | FSCN1 | c.989+9C>G (n.989+9C>G) c.155+9C>G (n.155+9C>G) n.542+9C>G | gnomAD v4 |
7 | g.5603424C>A | CA2681654517 | FSCN1 | c.989+11C>A (n.989+11C>A) c.155+11C>A (n.155+11C>A) n.542+11C>A | gnomAD v4 |
7 | g.5603424C= | CA1685036999 | FSCN1 | c.989+11C= (n.989+11C=) c.155+11C= (n.155+11C=) n.542+11C= | |
7 | g.5603424C>G | CA572822237 | FSCN1 | c.989+11C>G (n.989+11C>G) c.155+11C>G (n.155+11C>G) n.542+11C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5603424C>T | CA4147479 | FSCN1 | c.989+11C>T (n.989+11C>T) c.155+11C>T (n.155+11C>T) n.542+11C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603425G>A | CA4147480 | FSCN1 | c.989+12G>A (n.989+12G>A) c.155+12G>A (n.155+12G>A) n.542+12G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603425G>C | CA2681654518 | FSCN1 | c.989+12G>C (n.989+12G>C) c.155+12G>C (n.155+12G>C) n.542+12G>C | gnomAD v4 |
7 | g.5603425G= | CA1685037002 | FSCN1 | c.989+12G= (n.989+12G=) c.155+12G= (n.155+12G=) n.542+12G= | |
7 | g.5603426C= | CA1685037005 | FSCN1 | c.989+13C= (n.989+13C=) c.155+13C= (n.155+13C=) n.542+13C= | |
7 | g.5603426C>T | CA4147481 | FSCN1 | c.989+13C>T (n.989+13C>T) c.155+13C>T (n.155+13C>T) n.542+13C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603427T>C | CA2681654519 | FSCN1 | c.989+14T>C (n.989+14T>C) c.155+14T>C (n.155+14T>C) n.542+14T>C | gnomAD v4 |
7 | g.5603428C= | CA1685037010 | FSCN1 | c.989+15C= (n.989+15C=) c.155+15C= (n.155+15C=) n.542+15C= | |
7 | g.5603428C>T | CA4147482 | FSCN1 | c.989+15C>T (n.989+15C>T) c.155+15C>T (n.155+15C>T) n.542+15C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5603429C>G | CA2681654520 | FSCN1 | c.989+16C>G (n.989+16C>G) c.155+16C>G (n.155+16C>G) n.542+16C>G | gnomAD v4 |
7 | g.5603431A= | CA1685037013 | FSCN1 | c.989+18A= (n.989+18A=) c.155+18A= (n.155+18A=) n.542+18A= | |
7 | g.5603431A>C | CA1685037014 | FSCN1 | c.989+18A>C (n.989+18A>C) c.155+18A>C (n.155+18A>C) n.542+18A>C | dbSNP |
7 | g.5603432C>A | CA2681654521 | FSCN1 | c.989+19C>A (n.989+19C>A) c.155+19C>A (n.155+19C>A) n.542+19C>A | gnomAD v4 |