| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.174724981A>C | CA362229564 | MSX2 | c.322A>C (p.Asn108His) | |
| 5 | g.174724981A>G | CA362229565 | MSX2 | c.322A>G (p.Asn108Asp) | |
| 5 | g.174724981A>T | CA362229566 | MSX2 | c.322A>T (p.Asn108Tyr) | |
| 5 | g.174724982A>C | CA362229567 | MSX2 | c.323A>C (p.Asn108Thr) | |
| 5 | g.174724982A>G | CA362229568 | MSX2 | c.323A>G (p.Asn108Ser) | |
| 5 | g.174724982A>T | CA362229569 | MSX2 | c.323A>T (p.Asn108Ile) | |
| 5 | g.174724983T>A | CA362229570 | MSX2 | c.324T>A (p.Asn108Lys) | |
| 5 | g.174724983T>C | CA447978627 | MSX2 | c.324T>C (p.Asn108=) | dbSNP |
| 5 | g.174724983T>G | CA362229571 | MSX2 | c.324T>G (p.Asn108Lys) | |
| 5 | g.174724984T>A | CA362229572 | MSX2 | c.325T>A (p.Ser109Thr) | |
| 5 | g.174724984T>C | CA362229573 | MSX2 | c.325T>C (p.Ser109Pro) | |
| 5 | g.174724984T>G | CA362229574 | MSX2 | c.325T>G (p.Ser109Ala) | |
| 5 | g.174724985C>A | CA362229576 | MSX2 | c.326C>A (p.Ser109Ter) | gnomAD v4 |
| 5 | g.174724985C= | CA1602346583 | MSX2 | c.326C= (p.Ser109=) | |
| 5 | g.174724985C>G | CA362229577 | MSX2 | c.326C>G (p.Ser109Ter) | |
| 5 | g.174724985C>T | CA362229575 | MSX2 | c.326C>T (p.Ser109Leu) | dbSNP gnomAD v4 |
| 5 | g.174724986A= | CA1602346586 | MSX2 | c.327A= (p.Ser109=) | |
| 5 | g.174724986A>C | CA447978631 | MSX2 | c.327A>C (p.Ser109=) | |
| 5 | g.174724986A>G | CA3565135 | MSX2 | c.327A>G (p.Ser109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724986A>T | CA447978632 | MSX2 | c.327A>T (p.Ser109=) | |
| 5 | g.174724987G>A | CA362229578 | MSX2 | c.328G>A (p.Glu110Lys) | |
| 5 | g.174724987G>C | CA362229579 | MSX2 | c.328G>C (p.Glu110Gln) | |
| 5 | g.174724987G>T | CA362229580 | MSX2 | c.328G>T (p.Glu110Ter) | |
| 5 | g.174724988A= | CA1602346591 | MSX2 | c.329A= (p.Glu110=) | |
| 5 | g.174724988A>C | CA362229581 | MSX2 | c.329A>C (p.Glu110Ala) | dbSNP |
| 5 | g.174724988A>G | CA362229582 | MSX2 | c.329A>G (p.Glu110Gly) | |
| 5 | g.174724988A>T | CA362229583 | MSX2 | c.329A>T (p.Glu110Val) | |
| 5 | g.174724989A= | CA1602346595 | MSX2 | c.330A= (p.Glu110=) | |
| 5 | g.174724989A>C | CA362229584 | MSX2 | c.330A>C (p.Glu110Asp) | gnomAD v4 |
| 5 | g.174724989A>G | CA447978634 | MSX2 | c.330A>G (p.Glu110=) | dbSNP gnomAD v4 |
| 5 | g.174724989A>T | CA362229585 | MSX2 | c.330A>T (p.Glu110Asp) | |
| 5 | g.174724990G>A | CA362229586 | MSX2 | c.331G>A (p.Asp111Asn) | |
| 5 | g.174724990G>C | CA362229587 | MSX2 | c.331G>C (p.Asp111His) | |
| 5 | g.174724990G>T | CA362229588 | MSX2 | c.331G>T (p.Asp111Tyr) | |
| 5 | g.174724991A= | CA1602346599 | MSX2 | c.332A= (p.Asp111=) | |
| 5 | g.174724991A>C | CA362229589 | MSX2 | c.332A>C (p.Asp111Ala) | |
| 5 | g.174724991A>G | CA362229590 | MSX2 | c.332A>G (p.Asp111Gly) | |
| 5 | g.174724991A>T | CA3565136 | MSX2 | c.332A>T (p.Asp111Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724992T>A | CA362229591 | MSX2 | c.333T>A (p.Asp111Glu) | |
| 5 | g.174724992T>C | CA3565137 | MSX2 | c.333T>C (p.Asp111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724992T>G | CA362229592 | MSX2 | c.333T>G (p.Asp111Glu) | |
| 5 | g.174724992T= | CA1602346603 | MSX2 | c.333T= (p.Asp111=) | |
| 5 | g.174724993G>A | CA362229593 | MSX2 | c.334G>A (p.Gly112Arg) | |
| 5 | g.174724993G>C | CA362229594 | MSX2 | c.334G>C (p.Gly112Arg) | |
| 5 | g.174724993G>T | CA362229595 | MSX2 | c.334G>T (p.Gly112Ter) | |
| 5 | g.174724994G>A | CA362229596 | MSX2 | c.335G>A (p.Gly112Glu) | |
| 5 | g.174724994G>C | CA362229597 | MSX2 | c.335G>C (p.Gly112Ala) | |
| 5 | g.174724994G>T | CA362229598 | MSX2 | c.335G>T (p.Gly112Val) | |
| 5 | g.174724995A>C | CA447978639 | MSX2 | c.336A>C (p.Gly112=) | |
| 5 | g.174724995A>G | CA447978640 | MSX2 | c.336A>G (p.Gly112=) | |
| 5 | g.174724995A>T | CA447978641 | MSX2 | c.336A>T (p.Gly112=) | |
| 5 | g.174724996G>A | CA362229599 | MSX2 | c.337G>A (p.Ala113Thr) | |
| 5 | g.174724996G>C | CA362229600 | MSX2 | c.337G>C (p.Ala113Pro) | |
| 5 | g.174724996G>T | CA362229601 | MSX2 | c.337G>T (p.Ala113Ser) | |
| 5 | g.174724997C>A | CA362229602 | MSX2 | c.338C>A (p.Ala113Glu) | |
| 5 | g.174724997C= | CA1602346609 | MSX2 | c.338C= (p.Ala113=) | |
| 5 | g.174724997C>G | CA362229603 | MSX2 | c.338C>G (p.Ala113Gly) | gnomAD v4 |
| 5 | g.174724997C>T | CA3565138 | MSX2 | c.338C>T (p.Ala113Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174724998G>A | CA447978643 | MSX2 | c.339G>A (p.Ala113=) | |
| 5 | g.174724998G>C | CA447978645 | MSX2 | c.339G>C (p.Ala113=) | |
| 5 | g.174724998G>T | CA447978646 | MSX2 | c.339G>T (p.Ala113=) | gnomAD v4 |
| 5 | g.174724999G>A | CA362229604 | MSX2 | c.340G>A (p.Ala114Thr) | gnomAD v4 |
| 5 | g.174724999G>C | CA362229606 | MSX2 | c.340G>C (p.Ala114Pro) | |
| 5 | g.174724999G>T | CA362229605 | MSX2 | c.340G>T (p.Ala114Ser) | |
| 5 | g.174725000C>A | CA362229607 | MSX2 | c.341C>A (p.Ala114Glu) | |
| 5 | g.174725000C>G | CA362229608 | MSX2 | c.341C>G (p.Ala114Gly) | |
| 5 | g.174725000C>T | CA362229609 | MSX2 | c.341C>T (p.Ala114Val) | |
| 5 | g.174725001G>A | CA447978647 | MSX2 | c.342G>A (p.Ala114=) | dbSNP gnomAD v4 |
| 5 | g.174725001G>C | CA447978648 | MSX2 | c.342G>C (p.Ala114=) | |
| 5 | g.174725001G>T | CA447978649 | MSX2 | c.342G>T (p.Ala114=) | |
| 5 | g.174725002T>A | CA362229610 | MSX2 | c.343T>A (p.Trp115Arg) | |
| 5 | g.174725002T>C | CA362229611 | MSX2 | c.343T>C (p.Trp115Arg) | gnomAD v4 |
| 5 | g.174725002T>G | CA362229612 | MSX2 | c.343T>G (p.Trp115Gly) | |
| 5 | g.174725002_174725003delinsTG | CA1602346612 | MSX2 | c.343_344delinsTG (p.Trp115=) | |
| 5 | g.174725003G>A | CA362229613 | MSX2 | c.344G>A (p.Trp115Ter) | |
| 5 | g.174725003G>C | CA362229614 | MSX2 | c.344G>C (p.Trp115Ser) | gnomAD v4 |
| 5 | g.174725003G>T | CA362229615 | MSX2 | c.344G>T (p.Trp115Leu) | |
| 5 | g.174725004del | CA127006 | MSX2 | c.345del (p.Trp115Ter) | ClinVar dbSNP |
| 5 | g.174725004G>A | CA362229616 | MSX2 | c.345G>A (p.Trp115Ter) | |
| 5 | g.174725004G>C | CA362229617 | MSX2 | c.345G>C (p.Trp115Cys) | |
| 5 | g.174725004G>T | CA362229618 | MSX2 | c.345G>T (p.Trp115Cys) | |
| 5 | g.174725005A>C | CA362229621 | MSX2 | c.346A>C (p.Met116Leu) | |
| 5 | g.174725005A>G | CA362229619 | MSX2 | c.346A>G (p.Met116Val) | gnomAD v4 |
| 5 | g.174725005A>T | CA362229620 | MSX2 | c.346A>T (p.Met116Leu) | |
| 5 | g.174725006T>A | CA362229622 | MSX2 | c.347T>A (p.Met116Lys) | |
| 5 | g.174725006T>C | CA362229623 | MSX2 | c.347T>C (p.Met116Thr) | |
| 5 | g.174725006T>G | CA362229624 | MSX2 | c.347T>G (p.Met116Arg) | |
| 5 | g.174725007G>A | CA362229625 | MSX2 | c.348G>A (p.Met116Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725007G>C | CA362229626 | MSX2 | c.348G>C (p.Met116Ile) | |
| 5 | g.174725007G= | CA1602346623 | MSX2 | c.348G= (p.Met116=) | |
| 5 | g.174725007G>T | CA3565139 | MSX2 | c.348G>T (p.Met116Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174725008C>A | CA362229627 | MSX2 | c.349C>A (p.Gln117Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725008C= | CA1602346630 | MSX2 | c.349C= (p.Gln117=) | |
| 5 | g.174725008C>G | CA3565140 | MSX2 | c.349C>G (p.Gln117Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174725008C>T | CA362229628 | MSX2 | c.349C>T (p.Gln117Ter) | gnomAD v4 |
| 5 | g.174725009A>C | CA362229629 | MSX2 | c.350A>C (p.Gln117Pro) | gnomAD v4 |
| 5 | g.174725009A>G | CA362229630 | MSX2 | c.350A>G (p.Gln117Arg) | gnomAD v4 |
| 5 | g.174725009A>T | CA362229631 | MSX2 | c.350A>T (p.Gln117Leu) | |
| 5 | g.174725010G>A | CA3565141 | MSX2 | c.351G>A (p.Gln117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174725010G>C | CA362229633 | MSX2 | c.351G>C (p.Gln117His) | |
| 5 | g.174725010G= | CA1602346641 | MSX2 | c.351G= (p.Gln117=) | |
| 5 | g.174725010G>T | CA362229632 | MSX2 | c.351G>T (p.Gln117His) | gnomAD v4 |
| 5 | g.174725011G>A | CA362229634 | MSX2 | c.352G>A (p.Glu118Lys) | |
| 5 | g.174725011G>C | CA362229636 | MSX2 | c.352G>C (p.Glu118Gln) | gnomAD v4 |
| 5 | g.174725011G>T | CA362229635 | MSX2 | c.352G>T (p.Glu118Ter) | |
| 5 | g.174725012A>C | CA362229637 | MSX2 | c.353A>C (p.Glu118Ala) | |
| 5 | g.174725012A>G | CA362229639 | MSX2 | c.353A>G (p.Glu118Gly) | |
| 5 | g.174725012A>T | CA362229638 | MSX2 | c.353A>T (p.Glu118Val) | COSMIC |
| 5 | g.174725013A= | CA1602346647 | MSX2 | c.354A= (p.Glu118=) | |
| 5 | g.174725013A>C | CA362229640 | MSX2 | c.354A>C (p.Glu118Asp) | dbSNP gnomAD v4 |
| 5 | g.174725013A>G | CA447978659 | MSX2 | c.354A>G (p.Glu118=) | |
| 5 | g.174725013A>T | CA362229641 | MSX2 | c.354A>T (p.Glu118Asp) | |
| 5 | g.174725014C>A | CA362229642 | MSX2 | c.355C>A (p.Pro119Thr) | |
| 5 | g.174725014C>G | CA362229643 | MSX2 | c.355C>G (p.Pro119Ala) | |
| 5 | g.174725014C>T | CA362229644 | MSX2 | c.355C>T (p.Pro119Ser) | dbSNP |
| 5 | g.174725015C>A | CA3565142 | MSX2 | c.356C>A (p.Pro119His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725015C= | CA1602346655 | MSX2 | c.356C= (p.Pro119=) | |
| 5 | g.174725015C>G | CA362229645 | MSX2 | c.356C>G (p.Pro119Arg) | |
| 5 | g.174725015C>T | CA3565143 | MSX2 | c.356C>T (p.Pro119Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174725016C>A | CA447978663 | MSX2 | c.357C>A (p.Pro119=) | gnomAD v4 |
| 5 | g.174725016C= | CA1602346660 | MSX2 | c.357C= (p.Pro119=) | |
| 5 | g.174725016C>G | CA132700925 | MSX2 | c.357C>G (p.Pro119=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.174725016C>T | CA3565144 | MSX2 | c.357C>T (p.Pro119=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725017G>A | CA362229646 | MSX2 | c.358G>A (p.Gly120Ser) | dbSNP gnomAD v2 |
| 5 | g.174725017G>C | CA362229647 | MSX2 | c.358G>C (p.Gly120Arg) | |
| 5 | g.174725017G= | CA1602346673 | MSX2 | c.358G= (p.Gly120=) | |
| 5 | g.174725017G>T | CA362229648 | MSX2 | c.358G>T (p.Gly120Cys) | gnomAD v4 |
| 5 | g.174725018G>A | CA362229649 | MSX2 | c.359G>A (p.Gly120Asp) | |
| 5 | g.174725018G>C | CA362229651 | MSX2 | c.359G>C (p.Gly120Ala) | |
| 5 | g.174725018G>T | CA362229650 | MSX2 | c.359G>T (p.Gly120Val) | gnomAD v4 |
| 5 | g.174725019C>A | CA447978664 | MSX2 | c.360C>A (p.Gly120=) | |
| 5 | g.174725019C= | CA1602346684 | MSX2 | c.360C= (p.Gly120=) | |
| 5 | g.174725019C>G | CA447978665 | MSX2 | c.360C>G (p.Gly120=) | |
| 5 | g.174725019C>T | CA3565145 | MSX2 | c.360C>T (p.Gly120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725020C>A | CA3565146 | MSX2 | c.361C>A (p.Arg121=) | dbSNP ExAC gnomAD v4 |
| 5 | g.174725020C= | CA1602346690 | MSX2 | c.361C= (p.Arg121=) | |
| 5 | g.174725020C>G | CA362229652 | MSX2 | c.361C>G (p.Arg121Gly) | ClinVar gnomAD v4 |
| 5 | g.174725020C>T | CA362229653 | MSX2 | c.361C>T (p.Arg121Ter) | |
| 5 | g.174725021G>A | CA3565147 | MSX2 | c.362G>A (p.Arg121Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725021G>C | CA362229654 | MSX2 | c.362G>C (p.Arg121Pro) | |
| 5 | g.174725021G= | CA1602346703 | MSX2 | c.362G= (p.Arg121=) | |
| 5 | g.174725021G>T | CA362229655 | MSX2 | c.362G>T (p.Arg121Leu) | dbSNP gnomAD v4 |
| 5 | g.174725022A>C | CA447978669 | MSX2 | c.363A>C (p.Arg121=) | |
| 5 | g.174725022A>G | CA447978670 | MSX2 | c.363A>G (p.Arg121=) | |
| 5 | g.174725022A>T | CA447978671 | MSX2 | c.363A>T (p.Arg121=) | COSMIC |
| 5 | g.174725023T>A | CA362229656 | MSX2 | c.364T>A (p.Tyr122Asn) | |
| 5 | g.174725023T>C | CA362229657 | MSX2 | c.364T>C (p.Tyr122His) | dbSNP |
| 5 | g.174725023T>G | CA362229658 | MSX2 | c.364T>G (p.Tyr122Asp) | |
| 5 | g.174725023T= | CA1602346714 | MSX2 | c.364T= (p.Tyr122=) | |
| 5 | g.174725024A>C | CA362229660 | MSX2 | c.365A>C (p.Tyr122Ser) | |
| 5 | g.174725024A>G | CA362229661 | MSX2 | c.365A>G (p.Tyr122Cys) | |
| 5 | g.174725024A>T | CA362229659 | MSX2 | c.365A>T (p.Tyr122Phe) | |
| 5 | g.174725025T>A | CA362229662 | MSX2 | c.366T>A (p.Tyr122Ter) | |
| 5 | g.174725025T>C | CA447978676 | MSX2 | c.366T>C (p.Tyr122=) | |
| 5 | g.174725025T>G | CA362229663 | MSX2 | c.366T>G (p.Tyr122Ter) | |
| 5 | g.174725026T>A | CA362229664 | MSX2 | c.367T>A (p.Ser123Thr) | |
| 5 | g.174725026T>C | CA362229665 | MSX2 | c.367T>C (p.Ser123Pro) | gnomAD v4 |
| 5 | g.174725026T>G | CA362229666 | MSX2 | c.367T>G (p.Ser123Ala) | |
| 5 | g.174725027C>A | CA362229669 | MSX2 | c.368C>A (p.Ser123Ter) | gnomAD v4 |
| 5 | g.174725027C>G | CA362229668 | MSX2 | c.368C>G (p.Ser123Trp) | |
| 5 | g.174725027C>T | CA362229667 | MSX2 | c.368C>T (p.Ser123Leu) | gnomAD v4 COSMIC |
| 5 | g.174725028G>A | CA447978678 | MSX2 | c.369G>A (p.Ser123=) | gnomAD v4 |
| 5 | g.174725028G>C | CA447978679 | MSX2 | c.369G>C (p.Ser123=) | |
| 5 | g.174725028G>T | CA447978680 | MSX2 | c.369G>T (p.Ser123=) | |
| 5 | g.174725029C>A | CA362229670 | MSX2 | c.370C>A (p.Pro124Thr) | gnomAD v4 |
| 5 | g.174725029C>G | CA362229671 | MSX2 | c.370C>G (p.Pro124Ala) | |
| 5 | g.174725029C>T | CA362229672 | MSX2 | c.370C>T (p.Pro124Ser) | |
| 5 | g.174725030C>A | CA362229673 | MSX2 | c.371C>A (p.Pro124Gln) | gnomAD v4 |
| 5 | g.174725030C>G | CA362229674 | MSX2 | c.371C>G (p.Pro124Arg) | |
| 5 | g.174725030C>T | CA362229675 | MSX2 | c.371C>T (p.Pro124Leu) | gnomAD v4 |
| 5 | g.174725031G>A | CA447978681 | MSX2 | c.372G>A (p.Pro124=) | dbSNP gnomAD v4 |
| 5 | g.174725031G>C | CA447978682 | MSX2 | c.372G>C (p.Pro124=) | |
| 5 | g.174725031G= | CA1602346729 | MSX2 | c.372G= (p.Pro124=) | |
| 5 | g.174725031G>T | CA447978683 | MSX2 | c.372G>T (p.Pro124=) | gnomAD v4 |
| 5 | g.174725032C>A | CA362229676 | MSX2 | c.373C>A (p.Pro125Thr) | gnomAD v4 |
| 5 | g.174725032C= | CA1602346735 | MSX2 | c.373C= (p.Pro125=) | |
| 5 | g.174725032C>G | CA362229677 | MSX2 | c.373C>G (p.Pro125Ala) | gnomAD v4 |
| 5 | g.174725032C>T | CA3565148 | MSX2 | c.373C>T (p.Pro125Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725033C>A | CA362229678 | MSX2 | c.374C>A (p.Pro125Gln) | gnomAD v4 |
| 5 | g.174725033C= | CA1602346741 | MSX2 | c.374C= (p.Pro125=) | |
| 5 | g.174725033C>G | CA362229679 | MSX2 | c.374C>G (p.Pro125Arg) | |
| 5 | g.174725033C>T | CA3565149 | MSX2 | c.374C>T (p.Pro125Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174725034G>A | CA447978684 | MSX2 | c.375G>A (p.Pro125=) | gnomAD v4 |
| 5 | g.174725034G>C | CA447978685 | MSX2 | c.375G>C (p.Pro125=) | |
| 5 | g.174725034G= | CA1602346750 | MSX2 | c.375G= (p.Pro125=) | |
| 5 | g.174725034G>T | CA209346 | MSX2 | c.375G>T (p.Pro125=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725035C>A | CA362229680 | MSX2 | c.376C>A (p.Pro126Thr) | |
| 5 | g.174725035C= | CA1602346763 | MSX2 | c.376C= (p.Pro126=) | |
| 5 | g.174725035C>G | CA362229681 | MSX2 | c.376C>G (p.Pro126Ala) | |
| 5 | g.174725035C>T | CA362229682 | MSX2 | c.376C>T (p.Pro126Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725036C>A | CA362229683 | MSX2 | c.377C>A (p.Pro126Gln) | gnomAD v4 |
| 5 | g.174725036C>G | CA362229684 | MSX2 | c.377C>G (p.Pro126Arg) | |
| 5 | g.174725036C>T | CA362229685 | MSX2 | c.377C>T (p.Pro126Leu) | |
| 5 | g.174725037A= | CA1602346770 | MSX2 | c.378A= (p.Pro126=) | |
| 5 | g.174725037A>C | CA447978687 | MSX2 | c.378A>C (p.Pro126=) | gnomAD v4 |
| 5 | g.174725037A>G | CA3565150 | MSX2 | c.378A>G (p.Pro126=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174725037A>T | CA447978688 | MSX2 | c.378A>T (p.Pro126=) | |
| 5 | g.174725038A= | CA1602346776 | MSX2 | c.379A= (p.Arg127=) c.379A= (p.Ser127=) | |
| 5 | g.174725038A>C | CA362229687 | MSX2 | c.379A>C (p.Arg127=) c.379A>C (p.Ser127Arg) | |
| 5 | g.174725038A>G | CA3565151 | MSX2 | c.379A>G (p.Arg127Gly) c.379A>G (p.Ser127Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174725038A>T | CA362229686 | MSX2 | c.379A>T (p.Arg127Ter) c.379A>T (p.Ser127Cys) | |
| 5 | g.174725039G>A | CA362229688 | MSX2 | c.379+1G>A (n.379+1G>A) c.380G>A (p.Ser127Asn) | |
| 5 | g.174725039G>C | CA362229690 | MSX2 | c.379+1G>C (n.379+1G>C) c.380G>C (p.Ser127Thr) | |
| 5 | g.174725039G>T | CA362229689 | MSX2 | c.379+1G>T (n.379+1G>T) c.380G>T (p.Ser127Ile) | gnomAD v4 |
| 5 | g.174725040T>A | CA362229691 | MSX2 | c.379+2T>A (n.379+2T>A) c.381T>A (p.Ser127Arg) | |
| 5 | g.174725040T>C | CA362229692 | MSX2 | c.379+2T>C (n.379+2T>C) c.381T>C (p.Ser127=) | |
| 5 | g.174725040T>G | CA362229693 | MSX2 | c.379+2T>G (n.379+2T>G) c.381T>G (p.Ser127Arg) | |
| 5 | g.174725041G>A | CA362229694 | MSX2 | c.379+3G>A (n.379+3G>A) c.382G>A (p.Glu128Lys) | |
| 5 | g.174725041G>C | CA362229695 | MSX2 | c.379+3G>C (n.379+3G>C) c.382G>C (p.Glu128Gln) | |
| 5 | g.174725041G>T | CA362229696 | MSX2 | c.379+3G>T (n.379+3G>T) c.382G>T (p.Glu128Ter) | gnomAD v4 |
| 5 | g.174725042A>C | CA362229697 | MSX2 | c.379+4A>C (n.379+4A>C) c.383A>C (p.Glu128Ala) | |
| 5 | g.174725042A>G | CA362229698 | MSX2 | c.379+4A>G (n.379+4A>G) c.383A>G (p.Glu128Gly) | |
| 5 | g.174725042A>T | CA362229699 | MSX2 | c.379+4A>T (n.379+4A>T) c.383A>T (p.Glu128Val) | |
| 5 | g.174725043G>C | CA362229700 | MSX2 | c.379+5G>C (n.379+5G>C) c.384G>C (p.Glu128Asp) | |
| 5 | g.174725043G>T | CA362229701 | MSX2 | c.379+5G>T (n.379+5G>T) c.384G>T (p.Glu128Asp) | |
| 5 | g.174725044T>A | CA362229704 | MSX2 | c.379+6T>A (n.379+6T>A) c.385T>A (p.Cys129Ser) | |
| 5 | g.174725044T>C | CA362229702 | MSX2 | c.379+6T>C (n.379+6T>C) c.385T>C (p.Cys129Arg) | |
| 5 | g.174725044T>G | CA362229703 | MSX2 | c.379+6T>G (n.379+6T>G) c.385T>G (p.Cys129Gly) | |
| 5 | g.174725045G>A | CA362229705 | MSX2 | c.379+7G>A (n.379+7G>A) c.386G>A (p.Cys129Tyr) | |
| 5 | g.174725045G>C | CA3565152 | MSX2 | c.379+7G>C (n.379+7G>C) c.386G>C (p.Cys129Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725045G= | CA1602346786 | MSX2 | c.379+7G= (n.379+7G=) c.386G= (p.Cys129=) | |
| 5 | g.174725045G>T | CA362229706 | MSX2 | c.379+7G>T (n.379+7G>T) c.386G>T (p.Cys129Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725046_174725054del | CA2769499392 | MSX2 | c.379+8_379+16del (n.379+8_379+16del) c.387_395del (p.Cys129_Gly132delinsTrp) | |
| 5 | g.174725046C>A | CA362229707 | MSX2 | c.379+8C>A (n.379+8C>A) c.387C>A (p.Cys129Ter) | gnomAD v4 |
| 5 | g.174725046C= | CA1602346797 | MSX2 | c.379+8C= (n.379+8C=) c.387C= (p.Cys129=) | |
| 5 | g.174725046C>G | CA362229708 | MSX2 | c.379+8C>G (n.379+8C>G) c.387C>G (p.Cys129Trp) | ClinVar dbSNP |
| 5 | g.174725046C>T | CA564856569 | MSX2 | c.379+8C>T (n.379+8C>T) c.387C>T (p.Cys129=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725047G>A | CA3565153 | MSX2 | c.379+9G>A (n.379+9G>A) c.388G>A (p.Ala130Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725047G>C | CA362229709 | MSX2 | c.379+9G>C (n.379+9G>C) c.388G>C (p.Ala130Pro) | |
| 5 | g.174725047G= | CA1602346807 | MSX2 | c.379+9G= (n.379+9G=) c.388G= (p.Ala130=) | |
| 5 | g.174725047G>T | CA362229710 | MSX2 | c.379+9G>T (n.379+9G>T) c.388G>T (p.Ala130Ser) | |
| 5 | g.174725048C>A | CA362229711 | MSX2 | c.379+10C>A (n.379+10C>A) c.389C>A (p.Ala130Glu) | |
| 5 | g.174725048C= | CA1602346813 | MSX2 | c.379+10C= (n.379+10C=) c.389C= (p.Ala130=) | |
| 5 | g.174725048C>G | CA362229712 | MSX2 | c.379+10C>G (n.379+10C>G) c.389C>G (p.Ala130Gly) | |
| 5 | g.174725048C>T | CA362229713 | MSX2 | c.379+10C>T (n.379+10C>T) c.389C>T (p.Ala130Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725049G>A | CA564856578 | MSX2 | c.379+11G>A (n.379+11G>A) c.390G>A (p.Ala130=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725049G= | CA1602346818 | MSX2 | c.379+11G= (n.379+11G=) c.390G= (p.Ala130=) | |
| 5 | g.174725049G>T | CA2676572747 | MSX2 | c.379+11G>T (n.379+11G>T) c.390G>T (p.Ala130=) | gnomAD v4 |
| 5 | g.174725050C>A | CA362229715 | MSX2 | c.379+12C>A (n.379+12C>A) c.391C>A (p.Pro131Thr) | |
| 5 | g.174725050C>G | CA362229716 | MSX2 | c.379+12C>G (n.379+12C>G) c.391C>G (p.Pro131Ala) | |
| 5 | g.174725050C>T | CA362229714 | MSX2 | c.379+12C>T (n.379+12C>T) c.391C>T (p.Pro131Ser) | |
| 5 | g.174725051C>A | CA362229717 | MSX2 | c.379+13C>A (n.379+13C>A) c.392C>A (p.Pro131Gln) | gnomAD v4 |
| 5 | g.174725051C= | CA1602346825 | MSX2 | c.379+13C= (n.379+13C=) c.392C= (p.Pro131=) | |
| 5 | g.174725051C>G | CA362229718 | MSX2 | c.379+13C>G (n.379+13C>G) c.392C>G (p.Pro131Arg) | |
| 5 | g.174725051C>T | CA3565155 | MSX2 | c.379+13C>T (n.379+13C>T) c.392C>T (p.Pro131Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174725051_174725052delinsCG | CA1602346823 | MSX2 | c.379+13_379+14delinsCG (n.379+13_379+14delinsCG) c.392_393delinsCG (p.Pro131=) | |
| 5 | g.174725052G>A | CA564856585 | MSX2 | c.379+14G>A (n.379+14G>A) c.393G>A (p.Pro131=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725052G>C | CA1602346830 | MSX2 | c.379+14G>C (n.379+14G>C) c.393G>C (p.Pro131=) | dbSNP gnomAD v4 |
| 5 | g.174725052G= | CA1602346833 | MSX2 | c.379+14G= (n.379+14G=) c.393G= (p.Pro131=) | |
| 5 | g.174725052G>T | CA2676572748 | MSX2 | c.379+14G>T (n.379+14G>T) c.393G>T (p.Pro131=) | gnomAD v4 |
| 5 | g.174725055del | CA3565154 | MSX2 | c.379+17del (n.379+17del) c.396del (p.Gln133ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725053G>A | CA362229719 | MSX2 | c.379+15G>A (n.379+15G>A) c.394G>A (p.Gly132Arg) | gnomAD v4 |
| 5 | g.174725053G>C | CA362229720 | MSX2 | c.379+15G>C (n.379+15G>C) c.394G>C (p.Gly132Arg) | |
| 5 | g.174725053G= | CA1602346839 | MSX2 | c.379+15G= (n.379+15G=) c.394G= (p.Gly132=) | |
| 5 | g.174725053G>T | CA362229721 | MSX2 | c.379+15G>T (n.379+15G>T) c.394G>T (p.Gly132Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725054G>A | CA362229722 | MSX2 | c.379+16G>A (n.379+16G>A) c.395G>A (p.Gly132Glu) | |
| 5 | g.174725054G>C | CA362229723 | MSX2 | c.379+16G>C (n.379+16G>C) c.395G>C (p.Gly132Ala) | |
| 5 | g.174725054G>T | CA362229724 | MSX2 | c.379+16G>T (n.379+16G>T) c.395G>T (p.Gly132Val) | |
| 5 | g.174725055G>A | CA564856588 | MSX2 | c.379+17G>A (n.379+17G>A) c.396G>A (p.Gly132=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725055G= | CA1602346843 | MSX2 | c.379+17G= (n.379+17G=) c.396G= (p.Gly132=) | |
| 5 | g.174725055G>T | CA2676572749 | MSX2 | c.379+17G>T (n.379+17G>T) c.396G>T (p.Gly132=) | gnomAD v4 |
| 5 | g.174725056C>A | CA362229725 | MSX2 | c.379+18C>A (n.379+18C>A) c.397C>A (p.Gln133Lys) | gnomAD v4 |
| 5 | g.174725056C>G | CA362229726 | MSX2 | c.379+18C>G (n.379+18C>G) c.397C>G (p.Gln133Glu) | |
| 5 | g.174725056C>T | CA362229727 | MSX2 | c.379+18C>T (n.379+18C>T) c.397C>T (p.Gln133Ter) | gnomAD v4 |
| 5 | g.174725057A= | CA1602346848 | MSX2 | c.379+19A= (n.379+19A=) c.398A= (p.Gln133=) | |
| 5 | g.174725057A>C | CA362229729 | MSX2 | c.379+19A>C (n.379+19A>C) c.398A>C (p.Gln133Pro) | gnomAD v4 |
| 5 | g.174725057A>G | CA3565156 | MSX2 | c.379+19A>G (n.379+19A>G) c.398A>G (p.Gln133Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725057A>T | CA362229728 | MSX2 | c.379+19A>T (n.379+19A>T) c.398A>T (p.Gln133Leu) | |
| 5 | g.174725058G>A | CA564856591 | MSX2 | c.379+20G>A (n.379+20G>A) c.399G>A (p.Gln133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725058G>C | CA362229730 | MSX2 | c.379+20G>C (n.379+20G>C) c.399G>C (p.Gln133His) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174725058G= | CA1602346853 | MSX2 | c.379+20G= (n.379+20G=) c.399G= (p.Gln133=) | |
| 5 | g.174725058G>T | CA362229731 | MSX2 | c.379+20G>T (n.379+20G>T) c.399G>T (p.Gln133His) | |
| 5 | g.174725059G>A | CA362229732 | MSX2 | c.379+21G>A (n.379+21G>A) c.400G>A (p.Glu134Lys) | |
| 5 | g.174725059G>C | CA362229733 | MSX2 | c.379+21G>C (n.379+21G>C) c.400G>C (p.Glu134Gln) | |
| 5 | g.174725059G>T | CA362229734 | MSX2 | c.379+21G>T (n.379+21G>T) c.400G>T (p.Glu134Ter) | gnomAD v4 |
| 5 | g.174725060A>C | CA362229735 | MSX2 | c.379+22A>C (n.379+22A>C) c.401A>C (p.Glu134Ala) | |
| 5 | g.174725060A>G | CA362229736 | MSX2 | c.379+22A>G (n.379+22A>G) c.401A>G (p.Glu134Gly) | gnomAD v4 |
| 5 | g.174725060A>T | CA362229737 | MSX2 | c.379+22A>T (n.379+22A>T) c.401A>T (p.Glu134Val) | |
| 5 | g.174725061G>C | CA362229738 | MSX2 | c.379+23G>C (n.379+23G>C) c.402G>C (p.Glu134Asp) | |
| 5 | g.174725061G>T | CA362229739 | MSX2 | c.379+23G>T (n.379+23G>T) c.402G>T (p.Glu134Asp) | |
| 5 | g.174725062T>A | CA362229740 | MSX2 | c.379+24T>A (n.379+24T>A) c.403T>A (p.Ter135Lys) | |
| 5 | g.174725062T>C | CA362229741 | MSX2 | c.379+24T>C (n.379+24T>C) c.403T>C (p.Ter135Gln) | |
| 5 | g.174725062T>G | CA362229742 | MSX2 | c.379+24T>G (n.379+24T>G) c.403T>G (p.Ter135Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174725062T= | CA1602346859 | MSX2 | c.379+24T= (n.379+24T=) c.403T= (p.Ter135=) | |
| 5 | g.174725063A= | CA1602346865 | MSX2 | c.379+25A= (n.379+25A=) c.404A= (p.Ter135=) | |
| 5 | g.174725063A>C | CA362229743 | MSX2 | c.379+25A>C (n.379+25A>C) c.404A>C (p.Ter135Ser) | |
| 5 | g.174725063A>G | CA132700926 | MSX2 | c.379+25A>G (n.379+25A>G) c.404A>G (p.Ter135Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174725063A>T | CA362229744 | MSX2 | c.379+25A>T (n.379+25A>T) c.404A>T (p.Ter135Leu) | gnomAD v4 |
| 5 | g.174725066_174725068dup | CA2578488490 | MSX2 | c.379+28_379+30dup (n.379+28_379+30dup) c.*2_*3+1dup | |
| 5 | g.174725066_174725068del | CA2676572750 | MSX2 | c.379+28_379+30del (n.379+28_379+30del) c.*2_*3+1del | gnomAD v4 |
| 5 | g.174725064G>C | CA362229746 | MSX2 | c.379+26G>C (n.379+26G>C) c.405G>C (p.Ter135Tyr) | |
| 5 | g.174725064G>T | CA362229745 | MSX2 | c.379+26G>T (n.379+26G>T) c.405G>T (p.Ter135Tyr) | gnomAD v4 |
| 5 | g.174725064_174725065dup | CA2676572751 | MSX2 | c.379+26_379+27dup (n.379+26_379+27dup) c.405_*1dup (n.405_*1dup) | gnomAD v4 |
| 5 | g.174725069_174725087dup | CA3565157 | MSX2 | c.379+31_379+49dup (n.379+31_379+49dup) c.*3+2_*3+20dup | dbSNP ExAC gnomAD v4 |
| 5 | g.174725066A>T | CA2676572752 | MSX2 | c.379+28A>T (n.379+28A>T) c.*2A>T (n.*2A>T) | gnomAD v4 |
| 5 | g.174725067G>C | CA2676572753 | MSX2 | c.379+29G>C (n.379+29G>C) c.*3G>C (n.*3G>C) | gnomAD v4 |
| 5 | g.174725067G>T | CA2676572754 | MSX2 | c.379+29G>T (n.379+29G>T) c.*3G>T (n.*3G>T) | gnomAD v4 |
| 5 | g.174725068G>A | CA2676572755 | MSX2 | c.379+30G>A (n.379+30G>A) c.*3+1G>A (n.*3+1G>A) | gnomAD v4 |
| 5 | g.174725069T>G | CA1602346872 | MSX2 | c.379+31T>G (n.379+31T>G) c.*3+2T>G (n.*3+2T>G) | dbSNP |
| 5 | g.174725069T= | CA1602346873 | MSX2 | c.379+31T= (n.379+31T=) c.*3+2T= (n.*3+2T=) | |
| 5 | g.174725070A= | CA1602346876 | MSX2 | c.379+32A= (n.379+32A=) c.*3+3A= (n.*3+3A=) | |
| 5 | g.174725070A>G | CA2710423402 | MSX2 | c.379+32A>G (n.379+32A>G) c.*3+3A>G (n.*3+3A>G) | dbSNP |
| 5 | g.174725070A>T | CA3565158 | MSX2 | c.379+32A>T (n.379+32A>T) c.*3+3A>T (n.*3+3A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725071G>A | CA564856594 | MSX2 | c.379+33G>A (n.379+33G>A) c.*3+4G>A (n.*3+4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725071G= | CA1602346891 | MSX2 | c.379+33G= (n.379+33G=) c.*3+4G= (n.*3+4G=) | |
| 5 | g.174725071G>T | CA2676572756 | MSX2 | c.379+33G>T (n.379+33G>T) c.*3+4G>T (n.*3+4G>T) | gnomAD v4 |
| 5 | g.174725072C>A | CA3565159 | MSX2 | c.379+34C>A (n.379+34C>A) c.*3+5C>A (n.*3+5C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725072C= | CA1602346898 | MSX2 | c.379+34C= (n.379+34C=) c.*3+5C= (n.*3+5C=) | |
| 5 | g.174725072C>T | CA2676572757 | MSX2 | c.379+34C>T (n.379+34C>T) c.*3+5C>T (n.*3+5C>T) | gnomAD v4 |
| 5 | g.174725073G>A | CA564856597 | MSX2 | c.379+35G>A (n.379+35G>A) c.*3+6G>A (n.*3+6G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725073G= | CA1602346909 | MSX2 | c.379+35G= (n.379+35G=) c.*3+6G= (n.*3+6G=) | |
| 5 | g.174725073G>T | CA2676572758 | MSX2 | c.379+35G>T (n.379+35G>T) c.*3+6G>T (n.*3+6G>T) | gnomAD v4 |
| 5 | g.174725074C>A | CA2676572759 | MSX2 | c.379+36C>A (n.379+36C>A) c.*3+7C>A (n.*3+7C>A) | gnomAD v4 |
| 5 | g.174725074C= | CA1602346916 | MSX2 | c.379+36C= (n.379+36C=) c.*3+7C= (n.*3+7C=) | |
| 5 | g.174725074C>G | CA807838271 | MSX2 | c.379+36C>G (n.379+36C>G) c.*3+7C>G (n.*3+7C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174725074C>T | CA564856598 | MSX2 | c.379+36C>T (n.379+36C>T) c.*3+7C>T (n.*3+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725075G>A | CA2578488491 | MSX2 | c.379+37G>A (n.379+37G>A) c.*3+8G>A (n.*3+8G>A) | gnomAD v4 |
| 5 | g.174725075G>C | CA2676572761 | MSX2 | c.379+37G>C (n.379+37G>C) c.*3+8G>C (n.*3+8G>C) | gnomAD v4 |
| 5 | g.174725075G>T | CA2676572762 | MSX2 | c.379+37G>T (n.379+37G>T) c.*3+8G>T (n.*3+8G>T) | gnomAD v4 |
| 5 | g.174725078del | CA2676572760 | MSX2 | c.379+40del (n.379+40del) c.*3+11del (n.*3+11del) | gnomAD v4 |
| 5 | g.174725076G>A | CA3565161 | MSX2 | c.379+38G>A (n.379+38G>A) c.*3+9G>A (n.*3+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725076G>C | CA3565160 | MSX2 | c.379+38G>C (n.379+38G>C) c.*3+9G>C (n.*3+9G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725076G= | CA1602346919 | MSX2 | c.379+38G= (n.379+38G=) c.*3+9G= (n.*3+9G=) | |
| 5 | g.174725076G>T | CA2676572763 | MSX2 | c.379+38G>T (n.379+38G>T) c.*3+9G>T (n.*3+9G>T) | gnomAD v4 |
| 5 | g.174725077G>A | CA3565162 | MSX2 | c.379+39G>A (n.379+39G>A) c.*3+10G>A (n.*3+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725077G>C | CA2578488492 | MSX2 | c.379+39G>C (n.379+39G>C) c.*3+10G>C (n.*3+10G>C) | gnomAD v4 |
| 5 | g.174725077G= | CA1602346927 | MSX2 | c.379+39G= (n.379+39G=) c.*3+10G= (n.*3+10G=) | |
| 5 | g.174725077G>T | CA2676572764 | MSX2 | c.379+39G>T (n.379+39G>T) c.*3+10G>T (n.*3+10G>T) | gnomAD v4 |
| 5 | g.174725078G>A | CA3565163 | MSX2 | c.379+40G>A (n.379+40G>A) c.*3+11G>A (n.*3+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174725078G>C | CA2676572766 | MSX2 | c.379+40G>C (n.379+40G>C) c.*3+11G>C (n.*3+11G>C) | gnomAD v4 |
| 5 | g.174725078G= | CA1602346932 | MSX2 | c.379+40G= (n.379+40G=) c.*3+11G= (n.*3+11G=) | |
| 5 | g.174725078G>T | CA564856603 | MSX2 | c.379+40G>T (n.379+40G>T) c.*3+11G>T (n.*3+11G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725079_174725083del | CA2676572765 | MSX2 | c.379+41_379+45del (n.379+41_379+45del) c.*3+12_*3+16del (n.*3+12_*3+16del) | gnomAD v4 |
| 5 | g.174725079T>G | CA1602346935 | MSX2 | c.379+41T>G (n.379+41T>G) c.*3+12T>G (n.*3+12T>G) | dbSNP |
| 5 | g.174725079T= | CA1602346934 | MSX2 | c.379+41T= (n.379+41T=) c.*3+12T= (n.*3+12T=) | |
| 5 | g.174725080A= | CA1602346938 | MSX2 | c.379+42A= (n.379+42A=) c.*3+13A= (n.*3+13A=) | |
| 5 | g.174725080A>C | CA564856604 | MSX2 | c.379+42A>C (n.379+42A>C) c.*3+13A>C (n.*3+13A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725080A>G | CA564856605 | MSX2 | c.379+42A>G (n.379+42A>G) c.*3+13A>G (n.*3+13A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725081C>A | CA2676572767 | MSX2 | c.379+43C>A (n.379+43C>A) c.*3+14C>A (n.*3+14C>A) | gnomAD v4 |
| 5 | g.174725081C= | CA1602346946 | MSX2 | c.379+43C= (n.379+43C=) c.*3+14C= (n.*3+14C=) | |
| 5 | g.174725081C>T | CA564856607 | MSX2 | c.379+43C>T (n.379+43C>T) c.*3+14C>T (n.*3+14C>T) | dbSNP gnomAD v2 gnomAD v4 |