| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.4862896dup | CA2586973676 | MSX1 | c.665dup (p.Asn222LysfsTer?) n.377dup | |
| 4 | g.4862896A= | CA1435013694 | MSX1 | c.665A= (p.Asn222=) n.377A= | |
| 4 | g.4862896A>C | CA356138594 | MSX1 | c.665A>C (p.Asn222Thr) n.377A>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862896A>G | CA356138595 | MSX1 | c.665A>G (p.Asn222Ser) n.377A>G | |
| 4 | g.4862896A>T | CA356138596 | MSX1 | c.665A>T (p.Asn222Ile) n.377A>T | |
| 4 | g.4862897C>A | CA356138597 | MSX1 | c.666C>A (p.Asn222Lys) n.378C>A | |
| 4 | g.4862897C>G | CA356138598 | MSX1 | c.666C>G (p.Asn222Lys) n.378C>G | |
| 4 | g.4862897C>T | CA438366184 | MSX1 | c.666C>T (p.Asn222=) n.378C>T | |
| 4 | g.4862898C>A | CA356138599 | MSX1 | c.667C>A (p.Arg223Ser) n.379C>A | |
| 4 | g.4862898C>G | CA356138600 | MSX1 | c.667C>G (p.Arg223Gly) n.379C>G | |
| 4 | g.4862898C>T | CA356138601 | MSX1 | c.667C>T (p.Arg223Cys) n.379C>T | |
| 4 | g.4862899G>A | CA356138604 | MSX1 | c.668G>A (p.Arg223His) n.380G>A | |
| 4 | g.4862899G>C | CA356138602 | MSX1 | c.668G>C (p.Arg223Pro) n.380G>C | |
| 4 | g.4862899G>T | CA356138603 | MSX1 | c.668G>T (p.Arg223Leu) n.380G>T | |
| 4 | g.4862900C>A | CA438366185 | MSX1 | c.669C>A (p.Arg223=) n.381C>A | |
| 4 | g.4862900C= | CA1435013695 | MSX1 | c.669C= (p.Arg223=) n.381C= | |
| 4 | g.4862900C>G | CA438366186 | MSX1 | c.669C>G (p.Arg223=) n.381C>G | |
| 4 | g.4862900C>T | CA438366187 | MSX1 | c.669C>T (p.Arg223=) n.381C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862901C>A | CA356138605 | MSX1 | c.670C>A (p.Arg224Ser) n.382C>A | |
| 4 | g.4862901C= | CA1435013696 | MSX1 | c.670C= (p.Arg224=) n.382C= | |
| 4 | g.4862901C>G | CA356138606 | MSX1 | c.670C>G (p.Arg224Gly) n.382C>G | |
| 4 | g.4862901C>T | CA356138607 | MSX1 | c.670C>T (p.Arg224Cys) n.382C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.4862902G>A | CA356138608 | MSX1 | c.671G>A (p.Arg224His) n.383G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862902G>C | CA356138609 | MSX1 | c.671G>C (p.Arg224Pro) n.383G>C | |
| 4 | g.4862902G>T | CA356138610 | MSX1 | c.671G>T (p.Arg224Leu) n.383G>T | |
| 4 | g.4862903C>A | CA438366190 | MSX1 | c.672C>A (p.Arg224=) n.384C>A | |
| 4 | g.4862903C= | CA1435013697 | MSX1 | c.672C= (p.Arg224=) n.384C= | |
| 4 | g.4862903C>G | CA438366188 | MSX1 | c.672C>G (p.Arg224=) n.384C>G | |
| 4 | g.4862903C>T | CA438366189 | MSX1 | c.672C>T (p.Arg224=) n.384C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.4862904G>A | CA356138611 | MSX1 | c.673G>A (p.Ala225Thr) n.385G>A | COSMIC |
| 4 | g.4862904G>C | CA2833094 | MSX1 | c.673G>C (p.Ala225Pro) n.385G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862904G= | CA1435013698 | MSX1 | c.673G= (p.Ala225=) n.385G= | |
| 4 | g.4862904G>T | CA356138612 | MSX1 | c.673G>T (p.Ala225Ser) n.385G>T | |
| 4 | g.4862905C>A | CA356138613 | MSX1 | c.674C>A (p.Ala225Asp) n.386C>A | |
| 4 | g.4862905C= | CA1435013699 | MSX1 | c.674C= (p.Ala225=) n.386C= | |
| 4 | g.4862905C>G | CA356138614 | MSX1 | c.674C>G (p.Ala225Gly) n.386C>G | |
| 4 | g.4862905C>T | CA2833095 | MSX1 | c.674C>T (p.Ala225Val) n.386C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862906C>A | CA438366191 | MSX1 | c.675C>A (p.Ala225=) n.387C>A | |
| 4 | g.4862906C>G | CA438366192 | MSX1 | c.675C>G (p.Ala225=) n.387C>G | |
| 4 | g.4862906C>T | CA438366193 | MSX1 | c.675C>T (p.Ala225=) n.387C>T | gnomAD v4 |
| 4 | g.4862906_4862907del | CA2760244049 | MSX1 | c.675_676del (p.Lys226GlyfsTer?) n.387_388del | |
| 4 | g.4862907A>C | CA356138615 | MSX1 | c.676A>C (p.Lys226Gln) n.388A>C | |
| 4 | g.4862907A>G | CA356138617 | MSX1 | c.676A>G (p.Lys226Glu) n.388A>G | |
| 4 | g.4862907A>T | CA356138616 | MSX1 | c.676A>T (p.Lys226Ter) n.388A>T | |
| 4 | g.4862908A>C | CA356138618 | MSX1 | c.677A>C (p.Lys226Thr) n.389A>C | |
| 4 | g.4862908A>G | CA356138620 | MSX1 | c.677A>G (p.Lys226Arg) n.389A>G | |
| 4 | g.4862908A>T | CA356138619 | MSX1 | c.677A>T (p.Lys226Met) n.389A>T | |
| 4 | g.4862909G>A | CA2833096 | MSX1 | c.678G>A (p.Lys226=) n.390G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862909G>C | CA356138622 | MSX1 | c.678G>C (p.Lys226Asn) n.390G>C | |
| 4 | g.4862909G= | CA1435013700 | MSX1 | c.678G= (p.Lys226=) n.390G= | |
| 4 | g.4862909G>T | CA356138623 | MSX1 | c.678G>T (p.Lys226Asn) n.390G>T | |
| 4 | g.4862910del | CA2669788568 | MSX1 | c.679del (p.Ala227GlnfsTer12) n.391del | gnomAD v4 |
| 4 | g.4862910G>A | CA356138624 | MSX1 | c.679G>A (p.Ala227Thr) n.391G>A | |
| 4 | g.4862910G>C | CA356138625 | MSX1 | c.679G>C (p.Ala227Pro) n.391G>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862910G= | CA1435013701 | MSX1 | c.679G= (p.Ala227=) n.391G= | |
| 4 | g.4862910G>T | CA356138626 | MSX1 | c.679G>T (p.Ala227Ser) n.391G>T | |
| 4 | g.4862911C>A | CA356138627 | MSX1 | c.680C>A (p.Ala227Glu) n.392C>A | |
| 4 | g.4862911C= | CA1435013702 | MSX1 | c.680C= (p.Ala227=) n.392C= | |
| 4 | g.4862911C>G | CA356138628 | MSX1 | c.680C>G (p.Ala227Gly) n.392C>G | |
| 4 | g.4862911C>T | CA356138629 | MSX1 | c.680C>T (p.Ala227Val) n.392C>T | dbSNP |
| 4 | g.4862911_4862913delinsCAA | CA1435013703 | MSX1 | c.680_682delinsCAA (p.Ala227=) n.392_394delinsCAA | |
| 4 | g.4862912A>C | CA438366194 | MSX1 | c.681A>C (p.Ala227=) n.393A>C | |
| 4 | g.4862912A>G | CA438366195 | MSX1 | c.681A>G (p.Ala227=) n.393A>G | gnomAD v4 |
| 4 | g.4862912A>T | CA438366196 | MSX1 | c.681A>T (p.Ala227=) n.393A>T | |
| 4 | g.4862914dup | CA2573137594 | MSX1 | c.683dup (p.Arg229GlufsTer?) n.395dup | ClinVar dbSNP |
| 4 | g.4862913_4862914del | CA916082631 | MSX1 | c.682_683del (p.Lys228GlufsTer?) n.394_395del | ClinVar dbSNP gnomAD v4 |
| 4 | g.4862913A>C | CA356138630 | MSX1 | c.682A>C (p.Lys228Gln) n.394A>C | |
| 4 | g.4862913A>G | CA356138631 | MSX1 | c.682A>G (p.Lys228Glu) n.394A>G | ClinVar |
| 4 | g.4862913A>T | CA356138632 | MSX1 | c.682A>T (p.Lys228Ter) n.394A>T | |
| 4 | g.4862914A>C | CA356138633 | MSX1 | c.683A>C (p.Lys228Thr) n.395A>C | |
| 4 | g.4862914A>G | CA356138635 | MSX1 | c.683A>G (p.Lys228Arg) n.395A>G | |
| 4 | g.4862914A>T | CA356138634 | MSX1 | c.683A>T (p.Lys228Met) n.395A>T | |
| 4 | g.4862915G>A | CA2833097 | MSX1 | c.684G>A (p.Lys228=) n.396G>A | dbSNP ExAC gnomAD v2 |
| 4 | g.4862915G>C | CA356138636 | MSX1 | c.684G>C (p.Lys228Asn) n.396G>C | |
| 4 | g.4862915G= | CA1435013704 | MSX1 | c.684G= (p.Lys228=) n.396G= | |
| 4 | g.4862915G>T | CA356138637 | MSX1 | c.684G>T (p.Lys228Asn) n.396G>T | |
| 4 | g.4862916A>C | CA438366197 | MSX1 | c.685A>C (p.Arg229=) n.397A>C | |
| 4 | g.4862916A>G | CA356138638 | MSX1 | c.685A>G (p.Arg229Gly) n.397A>G | |
| 4 | g.4862916A>T | CA356138639 | MSX1 | c.685A>T (p.Arg229Ter) n.397A>T | |
| 4 | g.4862917G>A | CA356138640 | MSX1 | c.686G>A (p.Arg229Lys) n.398G>A | |
| 4 | g.4862917G>C | CA356138641 | MSX1 | c.686G>C (p.Arg229Thr) n.398G>C | |
| 4 | g.4862917G>T | CA356138642 | MSX1 | c.686G>T (p.Arg229Ile) n.398G>T | |
| 4 | g.4862918A>C | CA356138643 | MSX1 | c.687A>C (p.Arg229Ser) n.399A>C | |
| 4 | g.4862918A>G | CA438366198 | MSX1 | c.687A>G (p.Arg229=) n.399A>G | |
| 4 | g.4862918A>T | CA356138644 | MSX1 | c.687A>T (p.Arg229Ser) n.399A>T | |
| 4 | g.4862919C>A | CA356138646 | MSX1 | c.688C>A (p.Leu230Ile) n.400C>A | |
| 4 | g.4862919C>G | CA356138645 | MSX1 | c.688C>G (p.Leu230Val) n.400C>G | |
| 4 | g.4862919C>T | CA438366199 | MSX1 | c.688C>T (p.Leu230=) n.400C>T | |
| 4 | g.4862920T>A | CA356138647 | MSX1 | c.689T>A (p.Leu230Gln) n.401T>A | |
| 4 | g.4862920T>C | CA356138648 | MSX1 | c.689T>C (p.Leu230Pro) n.401T>C | |
| 4 | g.4862920T>G | CA356138649 | MSX1 | c.689T>G (p.Leu230Arg) n.401T>G | dbSNP gnomAD v4 |
| 4 | g.4862920T= | CA1435013705 | MSX1 | c.689T= (p.Leu230=) n.401T= | |
| 4 | g.4862920dup | CA2669788569 | MSX1 | c.689dup (p.Gln231ThrfsTer?) n.401dup | gnomAD v4 |
| 4 | g.4862921A= | CA1435013706 | MSX1 | c.690A= (p.Leu230=) n.402A= | |
| 4 | g.4862921A>C | CA438366200 | MSX1 | c.690A>C (p.Leu230=) n.402A>C | |
| 4 | g.4862921A>G | CA2833098 | MSX1 | c.690A>G (p.Leu230=) n.402A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862921A>T | CA438366201 | MSX1 | c.690A>T (p.Leu230=) n.402A>T | |
| 4 | g.4862922C>A | CA356138650 | MSX1 | c.691C>A (p.Gln231Lys) n.403C>A | gnomAD v4 |
| 4 | g.4862922C>G | CA356138651 | MSX1 | c.691C>G (p.Gln231Glu) n.403C>G | |
| 4 | g.4862922C>T | CA356138652 | MSX1 | c.691C>T (p.Gln231Ter) n.403C>T | |
| 4 | g.4862923A>C | CA356138653 | MSX1 | c.692A>C (p.Gln231Pro) n.404A>C | |
| 4 | g.4862923A>G | CA356138654 | MSX1 | c.692A>G (p.Gln231Arg) n.404A>G | |
| 4 | g.4862923A>T | CA356138655 | MSX1 | c.692A>T (p.Gln231Leu) n.404A>T | |
| 4 | g.4862924A>C | CA356138656 | MSX1 | c.693A>C (p.Gln231His) n.405A>C | |
| 4 | g.4862924A>G | CA438366202 | MSX1 | c.693A>G (p.Gln231=) n.405A>G | |
| 4 | g.4862924A>T | CA356138657 | MSX1 | c.693A>T (p.Gln231His) n.405A>T | |
| 4 | g.4862925G>A | CA356138659 | MSX1 | c.694G>A (p.Glu232Lys) n.406G>A | |
| 4 | g.4862925G>C | CA356138660 | MSX1 | c.694G>C (p.Glu232Gln) n.406G>C | gnomAD v4 |
| 4 | g.4862925G>T | CA356138658 | MSX1 | c.694G>T (p.Glu232Ter) n.406G>T | gnomAD v4 |
| 4 | g.4862926A>C | CA356138661 | MSX1 | c.695A>C (p.Glu232Ala) n.407A>C | |
| 4 | g.4862926A>G | CA356138662 | MSX1 | c.695A>G (p.Glu232Gly) n.407A>G | |
| 4 | g.4862926A>T | CA356138663 | MSX1 | c.695A>T (p.Glu232Val) n.407A>T | gnomAD v4 |
| 4 | g.4862927G>A | CA438366203 | MSX1 | c.696G>A (p.Glu232=) n.408G>A | |
| 4 | g.4862927G>C | CA356138664 | MSX1 | c.696G>C (p.Glu232Asp) n.408G>C | |
| 4 | g.4862927G>T | CA356138665 | MSX1 | c.696G>T (p.Glu232Asp) n.408G>T | |
| 4 | g.4862928G>A | CA356138668 | MSX1 | c.697G>A (p.Ala233Thr) n.409G>A | gnomAD v4 |
| 4 | g.4862928G>C | CA356138666 | MSX1 | c.697G>C (p.Ala233Pro) n.409G>C | ClinVar |
| 4 | g.4862928G>T | CA356138667 | MSX1 | c.697G>T (p.Ala233Ser) n.409G>T | gnomAD v4 |
| 4 | g.4862929C>A | CA356138669 | MSX1 | c.698C>A (p.Ala233Glu) n.410C>A | gnomAD v4 |
| 4 | g.4862929C= | CA1435013707 | MSX1 | c.698C= (p.Ala233=) n.410C= | |
| 4 | g.4862929C>G | CA356138670 | MSX1 | c.698C>G (p.Ala233Gly) n.410C>G | |
| 4 | g.4862929C>T | CA356138671 | MSX1 | c.698C>T (p.Ala233Val) n.410C>T | dbSNP gnomAD v4 |
| 4 | g.4862930A>C | CA438366205 | MSX1 | c.699A>C (p.Ala233=) n.411A>C | gnomAD v4 |
| 4 | g.4862930A>G | CA438366206 | MSX1 | c.699A>G (p.Ala233=) n.411A>G | |
| 4 | g.4862930A>T | CA438366207 | MSX1 | c.699A>T (p.Ala233=) n.411A>T | |
| 4 | g.4862931G>A | CA356138672 | MSX1 | c.700G>A (p.Glu234Lys) n.412G>A | |
| 4 | g.4862931G>C | CA356138673 | MSX1 | c.700G>C (p.Glu234Gln) n.412G>C | |
| 4 | g.4862931G>T | CA356138674 | MSX1 | c.700G>T (p.Glu234Ter) n.412G>T | |
| 4 | g.4862932A>C | CA356138676 | MSX1 | c.701A>C (p.Glu234Ala) n.413A>C | |
| 4 | g.4862932A>G | CA356138677 | MSX1 | c.701A>G (p.Glu234Gly) n.413A>G | |
| 4 | g.4862932A>T | CA356138675 | MSX1 | c.701A>T (p.Glu234Val) n.413A>T | |
| 4 | g.4862933G>A | CA438366210 | MSX1 | c.702G>A (p.Glu234=) n.414G>A | |
| 4 | g.4862933G>C | CA356138678 | MSX1 | c.702G>C (p.Glu234Asp) n.414G>C | |
| 4 | g.4862933G>T | CA356138679 | MSX1 | c.702G>T (p.Glu234Asp) n.414G>T | |
| 4 | g.4862934C>A | CA356138680 | MSX1 | c.703C>A (p.Leu235Met) n.415C>A | |
| 4 | g.4862934C= | CA1435013708 | MSX1 | c.703C= (p.Leu235=) n.415C= | |
| 4 | g.4862934C>G | CA356138681 | MSX1 | c.703C>G (p.Leu235Val) n.415C>G | dbSNP |
| 4 | g.4862934C>T | CA438366211 | MSX1 | c.703C>T (p.Leu235=) n.415C>T | |
| 4 | g.4862935T>A | CA356138682 | MSX1 | c.704T>A (p.Leu235Gln) n.416T>A | |
| 4 | g.4862935T>C | CA356138683 | MSX1 | c.704T>C (p.Leu235Pro) n.416T>C | |
| 4 | g.4862935T>G | CA356138684 | MSX1 | c.704T>G (p.Leu235Arg) n.416T>G | |
| 4 | g.4862936G>A | CA438366214 | MSX1 | c.705G>A (p.Leu235=) n.417G>A | |
| 4 | g.4862936G>C | CA438366215 | MSX1 | c.705G>C (p.Leu235=) n.417G>C | |
| 4 | g.4862936G>T | CA438366216 | MSX1 | c.705G>T (p.Leu235=) n.417G>T | |
| 4 | g.4862937G>A | CA356138685 | MSX1 | c.706G>A (p.Glu236Lys) n.418G>A | |
| 4 | g.4862937G>C | CA356138686 | MSX1 | c.706G>C (p.Glu236Gln) n.418G>C | |
| 4 | g.4862937G>T | CA356138687 | MSX1 | c.706G>T (p.Glu236Ter) n.418G>T | |
| 4 | g.4862938A>C | CA356138690 | MSX1 | c.707A>C (p.Glu236Ala) n.419A>C | |
| 4 | g.4862938A>G | CA356138688 | MSX1 | c.707A>G (p.Glu236Gly) n.419A>G | dbSNP |
| 4 | g.4862938A>T | CA356138689 | MSX1 | c.707A>T (p.Glu236Val) n.419A>T | |
| 4 | g.4862939del | CA2586973677 | MSX1 | c.708del (p.Lys237SerfsTer2) n.420del | |
| 4 | g.4862939G>A | CA438366219 | MSX1 | c.708G>A (p.Glu236=) n.420G>A | |
| 4 | g.4862939G>C | CA356138691 | MSX1 | c.708G>C (p.Glu236Asp) n.420G>C | |
| 4 | g.4862939G>T | CA356138692 | MSX1 | c.708G>T (p.Glu236Asp) n.420G>T | |
| 4 | g.4862940A>C | CA356138693 | MSX1 | c.709A>C (p.Lys237Gln) n.421A>C | |
| 4 | g.4862940A>G | CA356138694 | MSX1 | c.709A>G (p.Lys237Glu) n.421A>G | |
| 4 | g.4862940A>T | CA356138695 | MSX1 | c.709A>T (p.Lys237Ter) n.421A>T | |
| 4 | g.4862941A>C | CA356138696 | MSX1 | c.710A>C (p.Lys237Thr) n.422A>C | |
| 4 | g.4862941A>G | CA356138698 | MSX1 | c.710A>G (p.Lys237Arg) n.422A>G | |
| 4 | g.4862941A>T | CA356138697 | MSX1 | c.710A>T (p.Lys237Met) n.422A>T | |
| 4 | g.4862942G>A | CA438366220 | MSX1 | c.711G>A (p.Lys237=) n.423G>A | |
| 4 | g.4862942G>C | CA356138699 | MSX1 | c.711G>C (p.Lys237Asn) n.423G>C | |
| 4 | g.4862942G>T | CA356138700 | MSX1 | c.711G>T (p.Lys237Asn) n.423G>T | |
| 4 | g.4862943C>A | CA356138701 | MSX1 | c.712C>A (p.Leu238Met) n.424C>A | |
| 4 | g.4862943C= | CA1435013709 | MSX1 | c.712C= (p.Leu238=) n.424C= | |
| 4 | g.4862943C>G | CA356138702 | MSX1 | c.712C>G (p.Leu238Val) n.424C>G | |
| 4 | g.4862943C>T | CA438366221 | MSX1 | c.712C>T (p.Leu238=) n.424C>T | dbSNP |
| 4 | g.4862944T>A | CA356138703 | MSX1 | c.713T>A (p.Leu238Gln) n.425T>A | gnomAD v4 |
| 4 | g.4862944T>C | CA356138704 | MSX1 | c.713T>C (p.Leu238Pro) n.425T>C | |
| 4 | g.4862944T>G | CA356138705 | MSX1 | c.713T>G (p.Leu238Arg) n.425T>G | |
| 4 | g.4862945G>A | CA438366222 | MSX1 | c.714G>A (p.Leu238=) n.426G>A | |
| 4 | g.4862945G>C | CA438366223 | MSX1 | c.714G>C (p.Leu238=) n.426G>C | |
| 4 | g.4862945G= | CA1435013710 | MSX1 | c.714G= (p.Leu238=) n.426G= | |
| 4 | g.4862945G>T | CA2833099 | MSX1 | c.714G>T (p.Leu238=) n.426G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862946A= | CA1435013711 | MSX1 | c.715A= (p.Lys239=) n.427A= | |
| 4 | g.4862946A>C | CA356138706 | MSX1 | c.715A>C (p.Lys239Gln) n.427A>C | |
| 4 | g.4862946A>G | CA356138707 | MSX1 | c.715A>G (p.Lys239Glu) n.427A>G | |
| 4 | g.4862946A>T | CA91672150 | MSX1 | c.715A>T (p.Lys239Ter) n.427A>T | dbSNP |
| 4 | g.4862947A= | CA1435013712 | MSX1 | c.716A= (p.Lys239=) n.428A= | |
| 4 | g.4862947A>C | CA356138708 | MSX1 | c.716A>C (p.Lys239Thr) n.428A>C | |
| 4 | g.4862947A>G | CA2833100 | MSX1 | c.716A>G (p.Lys239Arg) n.428A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862947A>T | CA356138709 | MSX1 | c.716A>T (p.Lys239Met) n.428A>T | |
| 4 | g.4862948G>A | CA438366227 | MSX1 | c.717G>A (p.Lys239=) n.429G>A | |
| 4 | g.4862948G>C | CA356138710 | MSX1 | c.717G>C (p.Lys239Asn) n.429G>C | gnomAD v4 COSMIC |
| 4 | g.4862948G>T | CA356138711 | MSX1 | c.717G>T (p.Lys239Asn) n.429G>T | |
| 4 | g.4862949A>C | CA356138712 | MSX1 | c.718A>C (p.Met240Leu) n.430A>C | |
| 4 | g.4862949A>G | CA356138713 | MSX1 | c.718A>G (p.Met240Val) n.430A>G | |
| 4 | g.4862949A>T | CA356138714 | MSX1 | c.718A>T (p.Met240Leu) n.430A>T | |
| 4 | g.4862950T>A | CA356138715 | MSX1 | c.719T>A (p.Met240Lys) n.431T>A | |
| 4 | g.4862950T>C | CA356138716 | MSX1 | c.719T>C (p.Met240Thr) n.431T>C | |
| 4 | g.4862950T>G | CA356138717 | MSX1 | c.719T>G (p.Met240Arg) n.431T>G | |
| 4 | g.4862951G>A | CA356138718 | MSX1 | c.720G>A (p.Met240Ile) n.432G>A | |
| 4 | g.4862951G>C | CA356138719 | MSX1 | c.720G>C (p.Met240Ile) n.432G>C | |
| 4 | g.4862951G>T | CA356138720 | MSX1 | c.720G>T (p.Met240Ile) n.432G>T | |
| 4 | g.4862952G>A | CA356138723 | MSX1 | c.721G>A (p.Ala241Thr) n.433G>A | |
| 4 | g.4862952G>C | CA356138722 | MSX1 | c.721G>C (p.Ala241Pro) n.433G>C | |
| 4 | g.4862952G>T | CA356138721 | MSX1 | c.721G>T (p.Ala241Ser) n.433G>T | |
| 4 | g.4862953C>A | CA356138724 | MSX1 | c.722C>A (p.Ala241Asp) n.434C>A | COSMIC |
| 4 | g.4862953C>G | CA356138725 | MSX1 | c.722C>G (p.Ala241Gly) n.434C>G | |
| 4 | g.4862953C>T | CA356138726 | MSX1 | c.722C>T (p.Ala241Val) n.434C>T | |
| 4 | g.4862954C>A | CA438366237 | MSX1 | c.723C>A (p.Ala241=) n.435C>A | |
| 4 | g.4862954C>G | CA438366236 | MSX1 | c.723C>G (p.Ala241=) n.435C>G | |
| 4 | g.4862954C>T | CA438366234 | MSX1 | c.723C>T (p.Ala241=) n.435C>T | gnomAD v4 |
| 4 | g.4862955G>A | CA356138727 | MSX1 | c.724G>A (p.Ala242Thr) n.436G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862955G>C | CA356138728 | MSX1 | c.724G>C (p.Ala242Pro) n.436G>C | |
| 4 | g.4862955G= | CA1435013713 | MSX1 | c.724G= (p.Ala242=) n.436G= | |
| 4 | g.4862955G>T | CA91672171 | MSX1 | c.724G>T (p.Ala242Ser) n.436G>T | dbSNP gnomAD v4 |
| 4 | g.4862956C>A | CA356138729 | MSX1 | c.725C>A (p.Ala242Asp) n.437C>A | |
| 4 | g.4862956C>G | CA356138730 | MSX1 | c.725C>G (p.Ala242Gly) n.437C>G | |
| 4 | g.4862956C>T | CA356138731 | MSX1 | c.725C>T (p.Ala242Val) n.437C>T | |
| 4 | g.4862957C>A | CA438366240 | MSX1 | c.726C>A (p.Ala242=) n.438C>A | |
| 4 | g.4862957C>G | CA438366241 | MSX1 | c.726C>G (p.Ala242=) n.438C>G | |
| 4 | g.4862957C>T | CA438366242 | MSX1 | c.726C>T (p.Ala242=) n.438C>T | |
| 4 | g.4862958A>C | CA356138732 | MSX1 | c.727A>C (p.Lys243Gln) n.439A>C | |
| 4 | g.4862958A>G | CA356138733 | MSX1 | c.727A>G (p.Lys243Glu) n.439A>G | |
| 4 | g.4862958A>T | CA356138734 | MSX1 | c.727A>T (p.Lys243Ter) n.439A>T | |
| 4 | g.4862959A>C | CA356138736 | MSX1 | c.728A>C (p.Lys243Thr) n.440A>C | |
| 4 | g.4862959A>G | CA356138737 | MSX1 | c.728A>G (p.Lys243Arg) n.440A>G | gnomAD v4 |
| 4 | g.4862959A>T | CA356138735 | MSX1 | c.728A>T (p.Lys243Met) n.440A>T | |
| 4 | g.4862960G>A | CA438366245 | MSX1 | c.729G>A (p.Lys243=) n.441G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862960G>C | CA356138739 | MSX1 | c.729G>C (p.Lys243Asn) n.441G>C | |
| 4 | g.4862960G= | CA1435013714 | MSX1 | c.729G= (p.Lys243=) n.441G= | |
| 4 | g.4862960G>T | CA356138738 | MSX1 | c.729G>T (p.Lys243Asn) n.441G>T | |
| 4 | g.4862961C>A | CA356138740 | MSX1 | c.730C>A (p.Pro244Thr) n.442C>A | |
| 4 | g.4862961C= | CA1435013715 | MSX1 | c.730C= (p.Pro244=) n.442C= | |
| 4 | g.4862961C>G | CA356138741 | MSX1 | c.730C>G (p.Pro244Ala) n.442C>G | |
| 4 | g.4862961C>T | CA356138742 | MSX1 | c.730C>T (p.Pro244Ser) n.442C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862961_4862962insACACCCAA | CA2760244060 | MSX1 | c.730_731insACACCCAA (p.Pro244HisfsTer23) n.442_443insACACCCAA | |
| 4 | g.4862962C>A | CA356138743 | MSX1 | c.731C>A (p.Pro244His) n.443C>A | |
| 4 | g.4862962C>G | CA356138744 | MSX1 | c.731C>G (p.Pro244Arg) n.443C>G | |
| 4 | g.4862962C>T | CA356138745 | MSX1 | c.731C>T (p.Pro244Leu) n.443C>T | gnomAD v4 |
| 4 | g.4862963C>A | CA438366247 | MSX1 | c.732C>A (p.Pro244=) n.444C>A | |
| 4 | g.4862963C= | CA1435013716 | MSX1 | c.732C= (p.Pro244=) n.444C= | |
| 4 | g.4862963C>G | CA438366249 | MSX1 | c.732C>G (p.Pro244=) n.444C>G | |
| 4 | g.4862963C>T | CA2833101 | MSX1 | c.732C>T (p.Pro244=) n.444C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862964A>C | CA356138746 | MSX1 | c.733A>C (p.Met245Leu) n.445A>C | |
| 4 | g.4862964A>G | CA356138747 | MSX1 | c.733A>G (p.Met245Val) n.445A>G | |
| 4 | g.4862964A>T | CA356138748 | MSX1 | c.733A>T (p.Met245Leu) n.445A>T | |
| 4 | g.4862965T>A | CA91672183 | MSX1 | c.734T>A (p.Met245Lys) n.446T>A | dbSNP |
| 4 | g.4862965T>C | CA2833102 | MSX1 | c.734T>C (p.Met245Thr) n.446T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862965T>G | CA356138749 | MSX1 | c.734T>G (p.Met245Arg) n.446T>G | |
| 4 | g.4862965T= | CA1435013717 | MSX1 | c.734T= (p.Met245=) n.446T= | |
| 4 | g.4862966G>A | CA356138750 | MSX1 | c.735G>A (p.Met245Ile) n.447G>A | |
| 4 | g.4862966G>C | CA356138751 | MSX1 | c.735G>C (p.Met245Ile) n.447G>C | |
| 4 | g.4862966G>T | CA356138752 | MSX1 | c.735G>T (p.Met245Ile) n.447G>T | gnomAD v4 |
| 4 | g.4862972_4862981dup | CA2586973678 | MSX1 | c.741_750dup (p.Phe251ThrfsTer?) n.453_462dup | |
| 4 | g.4862972_4862981del | CA2573137595 | MSX1 | c.741_750del (p.Pro248SerfsTer13) n.453_462del | ClinVar dbSNP gnomAD v4 |
| 4 | g.4862967C>A | CA356138753 | MSX1 | c.736C>A (p.Leu246Met) n.448C>A | |
| 4 | g.4862967C= | CA1435013718 | MSX1 | c.736C= (p.Leu246=) n.448C= | |
| 4 | g.4862967C>G | CA356138754 | MSX1 | c.736C>G (p.Leu246Val) n.448C>G | |
| 4 | g.4862967C>T | CA438366251 | MSX1 | c.736C>T (p.Leu246=) n.448C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862968T>A | CA356138755 | MSX1 | c.737T>A (p.Leu246Gln) n.449T>A | |
| 4 | g.4862968T>C | CA356138756 | MSX1 | c.737T>C (p.Leu246Pro) n.449T>C | |
| 4 | g.4862968T>G | CA2833103 | MSX1 | c.737T>G (p.Leu246Arg) n.449T>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 4 | g.4862968T= | CA1435013719 | MSX1 | c.737T= (p.Leu246=) n.449T= | |
| 4 | g.4862969G>A | CA2833105 | MSX1 | c.738G>A (p.Leu246=) n.450G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862969G>C | CA438366252 | MSX1 | c.738G>C (p.Leu246=) n.450G>C | |
| 4 | g.4862969G= | CA1435013720 | MSX1 | c.738G= (p.Leu246=) n.450G= | |
| 4 | g.4862969G>T | CA2833104 | MSX1 | c.738G>T (p.Leu246=) n.450G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862970C>A | CA356138757 | MSX1 | c.739C>A (p.Pro247Thr) n.451C>A | |
| 4 | g.4862970C= | CA1435013721 | MSX1 | c.739C= (p.Pro247=) n.451C= | |
| 4 | g.4862970C>G | CA356138758 | MSX1 | c.739C>G (p.Pro247Ala) n.451C>G | |
| 4 | g.4862970C>T | CA2833106 | MSX1 | c.739C>T (p.Pro247Ser) n.451C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862971C>A | CA356138760 | MSX1 | c.740C>A (p.Pro247Gln) n.452C>A | |
| 4 | g.4862971C>G | CA356138761 | MSX1 | c.740C>G (p.Pro247Arg) n.452C>G | |
| 4 | g.4862971C>T | CA356138759 | MSX1 | c.740C>T (p.Pro247Leu) n.452C>T | gnomAD v4 |
| 4 | g.4862972A>C | CA438366255 | MSX1 | c.741A>C (p.Pro247=) n.453A>C | |
| 4 | g.4862972A>G | CA438366257 | MSX1 | c.741A>G (p.Pro247=) n.453A>G | |
| 4 | g.4862972A>T | CA438366258 | MSX1 | c.741A>T (p.Pro247=) n.453A>T | |
| 4 | g.4862973C>A | CA356138762 | MSX1 | c.742C>A (p.Pro248Thr) n.454C>A | |
| 4 | g.4862973C>G | CA356138763 | MSX1 | c.742C>G (p.Pro248Ala) n.454C>G | |
| 4 | g.4862973C>T | CA356138764 | MSX1 | c.742C>T (p.Pro248Ser) n.454C>T | |
| 4 | g.4862974C>A | CA356138765 | MSX1 | c.743C>A (p.Pro248Gln) n.455C>A | |
| 4 | g.4862974C= | CA1435013722 | MSX1 | c.743C= (p.Pro248=) n.455C= | |
| 4 | g.4862974C>G | CA356138766 | MSX1 | c.743C>G (p.Pro248Arg) n.455C>G | ClinVar |
| 4 | g.4862974C>T | CA356138767 | MSX1 | c.743C>T (p.Pro248Leu) n.455C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862975G>A | CA438366263 | MSX1 | c.744G>A (p.Pro248=) n.456G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862975G>C | CA438366261 | MSX1 | c.744G>C (p.Pro248=) n.456G>C | gnomAD v4 |
| 4 | g.4862975G= | CA1435013723 | MSX1 | c.744G= (p.Pro248=) n.456G= | |
| 4 | g.4862975G>T | CA438366260 | MSX1 | c.744G>T (p.Pro248=) n.456G>T | |
| 4 | g.4862976G>A | CA356138768 | MSX1 | c.745G>A (p.Ala249Thr) n.457G>A | dbSNP gnomAD v4 |
| 4 | g.4862976G>C | CA356138769 | MSX1 | c.745G>C (p.Ala249Pro) n.457G>C | |
| 4 | g.4862976G= | CA1435013724 | MSX1 | c.745G= (p.Ala249=) n.457G= | |
| 4 | g.4862976G>T | CA356138770 | MSX1 | c.745G>T (p.Ala249Ser) n.457G>T | |
| 4 | g.4862977C>A | CA356138771 | MSX1 | c.746C>A (p.Ala249Asp) n.458C>A | |
| 4 | g.4862977C>G | CA356138772 | MSX1 | c.746C>G (p.Ala249Gly) n.458C>G | |
| 4 | g.4862977C>T | CA356138773 | MSX1 | c.746C>T (p.Ala249Val) n.458C>T | |
| 4 | g.4862978T>A | CA438366266 | MSX1 | c.747T>A (p.Ala249=) n.459T>A | gnomAD v4 |
| 4 | g.4862978T>C | CA438366267 | MSX1 | c.747T>C (p.Ala249=) n.459T>C | gnomAD v4 |
| 4 | g.4862978T>G | CA438366268 | MSX1 | c.747T>G (p.Ala249=) n.459T>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862978T= | CA1435013725 | MSX1 | c.747T= (p.Ala249=) n.459T= | |
| 4 | g.4862979G>A | CA356138775 | MSX1 | c.748G>A (p.Ala250Thr) n.460G>A | dbSNP gnomAD v2 |
| 4 | g.4862979G>C | CA356138776 | MSX1 | c.748G>C (p.Ala250Pro) n.460G>C | |
| 4 | g.4862979G= | CA1435013726 | MSX1 | c.748G= (p.Ala250=) n.460G= | |
| 4 | g.4862979G>T | CA356138774 | MSX1 | c.748G>T (p.Ala250Ser) n.460G>T | |
| 4 | g.4862980C>A | CA356138777 | MSX1 | c.749C>A (p.Ala250Asp) n.461C>A | |
| 4 | g.4862980C>G | CA356138778 | MSX1 | c.749C>G (p.Ala250Gly) n.461C>G | |
| 4 | g.4862980C>T | CA356138779 | MSX1 | c.749C>T (p.Ala250Val) n.461C>T | |
| 4 | g.4862981C>A | CA438366272 | MSX1 | c.750C>A (p.Ala250=) n.462C>A | |
| 4 | g.4862981C>G | CA438366273 | MSX1 | c.750C>G (p.Ala250=) n.462C>G | |
| 4 | g.4862981C>T | CA438366274 | MSX1 | c.750C>T (p.Ala250=) n.462C>T | gnomAD v4 |
| 4 | g.4862981_4862982dup | CA2578031953 | MSX1 | c.750_751dup (p.Phe251SerfsTer14) n.462_463dup | |
| 4 | g.4862982T>A | CA356138780 | MSX1 | c.751T>A (p.Phe251Ile) n.463T>A | |
| 4 | g.4862982T>C | CA356138781 | MSX1 | c.751T>C (p.Phe251Leu) n.463T>C | |
| 4 | g.4862982T>G | CA356138782 | MSX1 | c.751T>G (p.Phe251Val) n.463T>G | |
| 4 | g.4862983T>A | CA356138785 | MSX1 | c.752T>A (p.Phe251Tyr) n.464T>A | |
| 4 | g.4862983T>C | CA356138783 | MSX1 | c.752T>C (p.Phe251Ser) n.464T>C | |
| 4 | g.4862983T>G | CA356138784 | MSX1 | c.752T>G (p.Phe251Cys) n.464T>G | |
| 4 | g.4862983_4862984delinsAA | CA658657376 | MSX1 | c.752_753delinsAA (p.Phe251Ter) n.464_465delinsAA | ClinVar dbSNP |
| 4 | g.4862983_4862984delinsTC | CA1435013727 | MSX1 | c.752_753delinsTC (p.Phe251=) n.464_465delinsTC | |
| 4 | g.4862984C>A | CA356138786 | MSX1 | c.753C>A (p.Phe251Leu) n.465C>A | |
| 4 | g.4862984C>G | CA356138787 | MSX1 | c.753C>G (p.Phe251Leu) n.465C>G | |
| 4 | g.4862984C>T | CA438366278 | MSX1 | c.753C>T (p.Phe251=) n.465C>T | gnomAD v4 |
| 4 | g.4862985G>A | CA2833108 | MSX1 | c.754G>A (p.Gly252Ser) n.466G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862985G>C | CA356138788 | MSX1 | c.754G>C (p.Gly252Arg) n.466G>C | dbSNP gnomAD v4 |
| 4 | g.4862985G= | CA1435013728 | MSX1 | c.754G= (p.Gly252=) n.466G= | |
| 4 | g.4862985G>T | CA2833107 | MSX1 | c.754G>T (p.Gly252Cys) n.466G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862986G>A | CA356138791 | MSX1 | c.755G>A (p.Gly252Asp) n.467G>A | dbSNP gnomAD v4 |
| 4 | g.4862986G>C | CA356138790 | MSX1 | c.755G>C (p.Gly252Ala) n.467G>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862986G= | CA1435013729 | MSX1 | c.755G= (p.Gly252=) n.467G= | |
| 4 | g.4862986G>T | CA356138789 | MSX1 | c.755G>T (p.Gly252Val) n.467G>T | gnomAD v4 |
| 4 | g.4862986_4862997dup | CA2578031954 | MSX1 | c.755_766dup (p.Phe255_Pro256insArgLeuSerPhe) n.467_478dup | |
| 4 | g.4862987C>A | CA438366285 | MSX1 | c.756C>A (p.Gly252=) n.468C>A | |
| 4 | g.4862987C>G | CA438366286 | MSX1 | c.756C>G (p.Gly252=) n.468C>G | |
| 4 | g.4862987C>T | CA438366287 | MSX1 | c.756C>T (p.Gly252=) n.468C>T | |
| 4 | g.4862988C>A | CA356138792 | MSX1 | c.757C>A (p.Leu253Ile) n.469C>A | |
| 4 | g.4862988C>G | CA356138793 | MSX1 | c.757C>G (p.Leu253Val) n.469C>G | |
| 4 | g.4862988C>T | CA356138794 | MSX1 | c.757C>T (p.Leu253Phe) n.469C>T | gnomAD v4 |
| 4 | g.4862991_4862992dup | CA2669788570 | MSX1 | c.760_761dup (p.Phe255ProfsTer10) n.472_473dup | gnomAD v4 |
| 4 | g.4862989T>A | CA356138795 | MSX1 | c.758T>A (p.Leu253His) n.470T>A | |
| 4 | g.4862989T>C | CA356138796 | MSX1 | c.758T>C (p.Leu253Pro) n.470T>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862989T>G | CA356138797 | MSX1 | c.758T>G (p.Leu253Arg) n.470T>G | |
| 4 | g.4862989T= | CA1435013730 | MSX1 | c.758T= (p.Leu253=) n.470T= | |
| 4 | g.4862990C>A | CA438366292 | MSX1 | c.759C>A (p.Leu253=) n.471C>A | |
| 4 | g.4862990C= | CA1435013731 | MSX1 | c.759C= (p.Leu253=) n.471C= | |
| 4 | g.4862990C>G | CA2833109 | MSX1 | c.759C>G (p.Leu253=) n.471C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862990C>T | CA438366291 | MSX1 | c.759C>T (p.Leu253=) n.471C>T | |
| 4 | g.4862991T>A | CA356138800 | MSX1 | c.760T>A (p.Ser254Thr) n.472T>A | |
| 4 | g.4862991T>C | CA356138798 | MSX1 | c.760T>C (p.Ser254Pro) n.472T>C | |
| 4 | g.4862991T>G | CA356138799 | MSX1 | c.760T>G (p.Ser254Ala) n.472T>G | |
| 4 | g.4862992C>A | CA356138801 | MSX1 | c.761C>A (p.Ser254Tyr) n.473C>A | |
| 4 | g.4862992C= | CA1435013732 | MSX1 | c.761C= (p.Ser254=) n.473C= | |
| 4 | g.4862992C>G | CA356138802 | MSX1 | c.761C>G (p.Ser254Cys) n.473C>G | dbSNP gnomAD v4 |
| 4 | g.4862992C>T | CA356138803 | MSX1 | c.761C>T (p.Ser254Phe) n.473C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862993C>A | CA438366296 | MSX1 | c.762C>A (p.Ser254=) n.474C>A | |
| 4 | g.4862993C>G | CA438366297 | MSX1 | c.762C>G (p.Ser254=) n.474C>G | |
| 4 | g.4862993C>T | CA438366298 | MSX1 | c.762C>T (p.Ser254=) n.474C>T | dbSNP |
| 4 | g.4862994T>A | CA356138804 | MSX1 | c.763T>A (p.Phe255Ile) n.475T>A | |
| 4 | g.4862994T>C | CA356138805 | MSX1 | c.763T>C (p.Phe255Leu) n.475T>C | |
| 4 | g.4862994T>G | CA356138806 | MSX1 | c.763T>G (p.Phe255Val) n.475T>G | |
| 4 | g.4862995T>A | CA356138807 | MSX1 | c.764T>A (p.Phe255Tyr) n.476T>A | |
| 4 | g.4862995T>C | CA356138809 | MSX1 | c.764T>C (p.Phe255Ser) n.476T>C | |
| 4 | g.4862995T>G | CA356138808 | MSX1 | c.764T>G (p.Phe255Cys) n.476T>G | gnomAD v4 |
| 4 | g.4862996C>A | CA356138810 | MSX1 | c.765C>A (p.Phe255Leu) n.477C>A | |
| 4 | g.4862996C= | CA1435013733 | MSX1 | c.765C= (p.Phe255=) n.477C= | |
| 4 | g.4862996C>G | CA356138811 | MSX1 | c.765C>G (p.Phe255Leu) n.477C>G | |
| 4 | g.4862996C>T | CA2833110 | MSX1 | c.765C>T (p.Phe255=) n.477C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |