UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.174729196_174729197del | CA923726261 | MSX2 | c.417_418del (p.His139GlnfsTer?) c.*41_*42del (n.*41_*42del) | |
| 5 | g.174729194C>A | CA362229829 | MSX2 | c.415C>A (p.His139Asn) c.*39C>A (n.*39C>A) | |
| 5 | g.174729194C>G | CA362229830 | MSX2 | c.415C>G (p.His139Asp) c.*39C>G (n.*39C>G) | |
| 5 | g.174729194C>T | CA362229831 | MSX2 | c.415C>T (p.His139Tyr) c.*39C>T (n.*39C>T) | |
| 5 | g.174729195A>C | CA362229834 | MSX2 | c.416A>C (p.His139Pro) c.*40A>C (n.*40A>C) | |
| 5 | g.174729195A>G | CA362229833 | MSX2 | c.416A>G (p.His139Arg) c.*40A>G (n.*40A>G) | |
| 5 | g.174729195A>T | CA362229832 | MSX2 | c.416A>T (p.His139Leu) c.*40A>T (n.*40A>T) | |
| 5 | g.174729196C>A | CA362229835 | MSX2 | c.417C>A (p.His139Gln) c.*41C>A (n.*41C>A) | gnomAD v4 |
| 5 | g.174729196C>G | CA362229836 | MSX2 | c.417C>G (p.His139Gln) c.*41C>G (n.*41C>G) | |
| 5 | g.174729196C>T | CA447978709 | MSX2 | c.417C>T (p.His139=) c.*41C>T (n.*41C>T) | |
| 5 | g.174729197A>C | CA362229837 | MSX2 | c.418A>C (p.Lys140Gln) c.*42A>C (n.*42A>C) | |
| 5 | g.174729197A>G | CA362229838 | MSX2 | c.418A>G (p.Lys140Glu) c.*42A>G (n.*42A>G) | |
| 5 | g.174729197A>T | CA362229839 | MSX2 | c.418A>T (p.Lys140Ter) c.*42A>T (n.*42A>T) | |
| 5 | g.174729198A>C | CA362229840 | MSX2 | c.419A>C (p.Lys140Thr) c.*43A>C (n.*43A>C) | |
| 5 | g.174729198A>G | CA362229841 | MSX2 | c.419A>G (p.Lys140Arg) c.*43A>G (n.*43A>G) | gnomAD v4 |
| 5 | g.174729198A>T | CA362229842 | MSX2 | c.419A>T (p.Lys140Met) c.*43A>T (n.*43A>T) | |
| 5 | g.174729199G>A | CA447978710 | MSX2 | c.420G>A (p.Lys140=) c.*44G>A (n.*44G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174729199G>C | CA362229843 | MSX2 | c.420G>C (p.Lys140Asn) c.*44G>C (n.*44G>C) | |
| 5 | g.174729199G= | CA1602355829 | MSX2 | c.420G= (p.Lys140=) c.*44G= (n.*44G=) | |
| 5 | g.174729199G>T | CA362229844 | MSX2 | c.420G>T (p.Lys140Asn) c.*44G>T (n.*44G>T) | |
| 5 | g.174729200A>C | CA362229845 | MSX2 | c.421A>C (p.Thr141Pro) c.*45A>C (n.*45A>C) | |
| 5 | g.174729200A>G | CA362229846 | MSX2 | c.421A>G (p.Thr141Ala) c.*45A>G (n.*45A>G) | |
| 5 | g.174729200A>T | CA362229847 | MSX2 | c.421A>T (p.Thr141Ser) c.*45A>T (n.*45A>T) | |
| 5 | g.174729201C>A | CA362229850 | MSX2 | c.422C>A (p.Thr141Asn) c.*46C>A (n.*46C>A) | |
| 5 | g.174729201C>G | CA362229848 | MSX2 | c.422C>G (p.Thr141Ser) c.*46C>G (n.*46C>G) | |
| 5 | g.174729201C>T | CA362229849 | MSX2 | c.422C>T (p.Thr141Ile) c.*46C>T (n.*46C>T) | |
| 5 | g.174729201_174729202insGGAATCACAAGGATGTCCCAGTCCGTGATTTGCTGTAATTGAATCCATTTTAAATGTGGAGTCTGGATGCTGTTGGCATACCTTTATTTTGCTTGTTTTTCCCCCTGA | CA2769499488 | MSX2 | c.422_423insGGAATCACAAGGATGTCCCAGTCCGTGATTTGCTGTAATTGAATCCATTTTAAATGTGGAGTCTGGATGCTGTTGGCATACCTTTATTTTGCTTGTTTTTCCCCCTGA (p.Thr142GlufsTer9) c.*46_*47insGGAATCACAAGGATGTCCCAGTCCGTGATTTGCTGTAATTGAATCCATTTTAAATGTGGAGTCTGGATGCTGTTGGCATACCTTTATTTTGCTTGTTTTTCCCCCTGA (n.*46_*47insGGAATCACAAGGATGTCCCAGTCCGTGATTTGCTGTAATTGAATCCATTTTAAATGTGGAGTCTGGATGCTGTTGGCATACCTTTATTTTGCTTGTTTTTCCCCCTGA) | |
| 5 | g.174729202C>A | CA3565199 | MSX2 | c.423C>A (p.Thr141=) c.*47C>A (n.*47C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729202C= | CA1602355833 | MSX2 | c.423C= (p.Thr141=) c.*47C= (n.*47C=) | |
| 5 | g.174729202C>G | CA447978712 | MSX2 | c.423C>G (p.Thr141=) c.*47C>G (n.*47C>G) | |
| 5 | g.174729202C>T | CA447978711 | MSX2 | c.423C>T (p.Thr141=) c.*47C>T (n.*47C>T) | |
| 5 | g.174729203A>C | CA362229851 | MSX2 | c.424A>C (p.Asn142His) c.*48A>C (n.*48A>C) | |
| 5 | g.174729203A>G | CA362229852 | MSX2 | c.424A>G (p.Asn142Asp) c.*48A>G (n.*48A>G) | |
| 5 | g.174729203A>T | CA362229853 | MSX2 | c.424A>T (p.Asn142Tyr) c.*48A>T (n.*48A>T) | |
| 5 | g.174729204A= | CA1602355836 | MSX2 | c.425A= (p.Asn142=) c.*49A= (n.*49A=) | |
| 5 | g.174729204A>C | CA362229854 | MSX2 | c.425A>C (p.Asn142Thr) c.*49A>C (n.*49A>C) | |
| 5 | g.174729204A>G | CA3565200 | MSX2 | c.425A>G (p.Asn142Ser) c.*49A>G (n.*49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729204A>T | CA362229855 | MSX2 | c.425A>T (p.Asn142Ile) c.*49A>T (n.*49A>T) | |
| 5 | g.174729205T>A | CA362229856 | MSX2 | c.426T>A (p.Asn142Lys) c.*50T>A (n.*50T>A) | |
| 5 | g.174729205T>C | CA3565201 | MSX2 | c.426T>C (p.Asn142=) c.*50T>C (n.*50T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729205T>G | CA362229857 | MSX2 | c.426T>G (p.Asn142Lys) c.*50T>G (n.*50T>G) | |
| 5 | g.174729205T= | CA1602355839 | MSX2 | c.426T= (p.Asn142=) c.*50T= (n.*50T=) | |
| 5 | g.174729206C>A | CA447978713 | MSX2 | c.427C>A (p.Arg143=) c.*51C>A (n.*51C>A) | gnomAD v4 |
| 5 | g.174729206C= | CA1602355842 | MSX2 | c.427C= (p.Arg143=) c.*51C= (n.*51C=) | |
| 5 | g.174729206C>G | CA362229858 | MSX2 | c.427C>G (p.Arg143Gly) c.*51C>G (n.*51C>G) | |
| 5 | g.174729206C>T | CA362229859 | MSX2 | c.427C>T (p.Arg143Trp) c.*51C>T (n.*51C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174729208_174729214dup | CA2676572994 | MSX2 | c.429_435dup (p.Arg146GlufsTer?) c.*53_*59dup (n.*53_*59dup) | gnomAD v4 |
| 5 | g.174729207G>A | CA3565202 | MSX2 | c.428G>A (p.Arg143Gln) c.*52G>A (n.*52G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729207G>C | CA362229861 | MSX2 | c.428G>C (p.Arg143Pro) c.*52G>C (n.*52G>C) | |
| 5 | g.174729207G= | CA1602355846 | MSX2 | c.428G= (p.Arg143=) c.*52G= (n.*52G=) | |
| 5 | g.174729207G>T | CA362229860 | MSX2 | c.428G>T (p.Arg143Leu) c.*52G>T (n.*52G>T) | |
| 5 | g.174729208G>A | CA447978714 | MSX2 | c.429G>A (p.Arg143=) c.*53G>A (n.*53G>A) | gnomAD v4 |
| 5 | g.174729208G>C | CA447978715 | MSX2 | c.429G>C (p.Arg143=) c.*53G>C (n.*53G>C) | dbSNP |
| 5 | g.174729208G= | CA1602355850 | MSX2 | c.429G= (p.Arg143=) c.*53G= (n.*53G=) | |
| 5 | g.174729208G>T | CA447978716 | MSX2 | c.429G>T (p.Arg143=) c.*53G>T (n.*53G>T) | |
| 5 | g.174729209A>C | CA362229862 | MSX2 | c.430A>C (p.Lys144Gln) c.*54A>C (n.*54A>C) | |
| 5 | g.174729209A>G | CA362229864 | MSX2 | c.430A>G (p.Lys144Glu) c.*54A>G (n.*54A>G) | |
| 5 | g.174729209A>T | CA362229863 | MSX2 | c.430A>T (p.Lys144Ter) c.*54A>T (n.*54A>T) | |
| 5 | g.174729210A>C | CA362229865 | MSX2 | c.431A>C (p.Lys144Thr) c.*55A>C (n.*55A>C) | |
| 5 | g.174729210A>G | CA362229867 | MSX2 | c.431A>G (p.Lys144Arg) c.*55A>G (n.*55A>G) | |
| 5 | g.174729210A>T | CA362229866 | MSX2 | c.431A>T (p.Lys144Met) c.*55A>T (n.*55A>T) | |
| 5 | g.174729211G>A | CA447978717 | MSX2 | c.432G>A (p.Lys144=) c.*56G>A (n.*56G>A) | |
| 5 | g.174729211G>C | CA362229868 | MSX2 | c.432G>C (p.Lys144Asn) c.*56G>C (n.*56G>C) | |
| 5 | g.174729211G>T | CA362229869 | MSX2 | c.432G>T (p.Lys144Asn) c.*56G>T (n.*56G>T) | |
| 5 | g.174729212C>A | CA362229870 | MSX2 | c.433C>A (p.Pro145Thr) c.*57C>A (n.*57C>A) | |
| 5 | g.174729212C>G | CA362229871 | MSX2 | c.433C>G (p.Pro145Ala) c.*57C>G (n.*57C>G) | |
| 5 | g.174729212C>T | CA362229872 | MSX2 | c.433C>T (p.Pro145Ser) c.*57C>T (n.*57C>T) | |
| 5 | g.174729213C>A | CA362229873 | MSX2 | c.434C>A (p.Pro145Gln) c.*58C>A (n.*58C>A) | gnomAD v4 |
| 5 | g.174729213C= | CA1602355860 | MSX2 | c.434C= (p.Pro145=) c.*58C= (n.*58C=) | |
| 5 | g.174729213C>G | CA362229874 | MSX2 | c.434C>G (p.Pro145Arg) c.*58C>G (n.*58C>G) | |
| 5 | g.174729213C>T | CA3565203 | MSX2 | c.434C>T (p.Pro145Leu) c.*58C>T (n.*58C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.174729214G>A | CA3565204 | MSX2 | c.435G>A (p.Pro145=) c.*59G>A (n.*59G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174729214G>C | CA447978718 | MSX2 | c.435G>C (p.Pro145=) c.*59G>C (n.*59G>C) | |
| 5 | g.174729214G= | CA1602355867 | MSX2 | c.435G= (p.Pro145=) c.*59G= (n.*59G=) | |
| 5 | g.174729214G>T | CA3565205 | MSX2 | c.435G>T (p.Pro145=) c.*59G>T (n.*59G>T) | dbSNP ExAC gnomAD v4 |
| 5 | g.174729215C>A | CA362229876 | MSX2 | c.436C>A (p.Arg146Ser) c.*60C>A (n.*60C>A) | |
| 5 | g.174729215C= | CA1602355872 | MSX2 | c.436C= (p.Arg146=) c.*60C= (n.*60C=) | |
| 5 | g.174729215C>G | CA362229875 | MSX2 | c.436C>G (p.Arg146Gly) c.*60C>G (n.*60C>G) | |
| 5 | g.174729215C>T | CA3565206 | MSX2 | c.436C>T (p.Arg146Cys) c.*60C>T (n.*60C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729216G>A | CA362229877 | MSX2 | c.437G>A (p.Arg146His) c.*61G>A (n.*61G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174729216G>C | CA362229878 | MSX2 | c.437G>C (p.Arg146Pro) c.*61G>C (n.*61G>C) | |
| 5 | g.174729216G= | CA1602355880 | MSX2 | c.437G= (p.Arg146=) c.*61G= (n.*61G=) | |
| 5 | g.174729216G>T | CA362229879 | MSX2 | c.437G>T (p.Arg146Leu) c.*61G>T (n.*61G>T) | |
| 5 | g.174729217C>A | CA447978719 | MSX2 | c.438C>A (p.Arg146=) c.*62C>A (n.*62C>A) | |
| 5 | g.174729217C>G | CA447978720 | MSX2 | c.438C>G (p.Arg146=) c.*62C>G (n.*62C>G) | |
| 5 | g.174729217C>T | CA447978721 | MSX2 | c.438C>T (p.Arg146=) c.*62C>T (n.*62C>T) | |
| 5 | g.174729218A= | CA1602355882 | MSX2 | c.439A= (p.Thr147=) c.*63A= (n.*63A=) | |
| 5 | g.174729218A>C | CA362229880 | MSX2 | c.439A>C (p.Thr147Pro) c.*63A>C (n.*63A>C) | |
| 5 | g.174729218A>G | CA362229881 | MSX2 | c.439A>G (p.Thr147Ala) c.*63A>G (n.*63A>G) | |
| 5 | g.174729218A>T | CA362229882 | MSX2 | c.439A>T (p.Thr147Ser) c.*63A>T (n.*63A>T) | dbSNP |
| 5 | g.174729219C>A | CA362229883 | MSX2 | c.440C>A (p.Thr147Lys) c.*64C>A (n.*64C>A) | |
| 5 | g.174729219C= | CA1602355885 | MSX2 | c.440C= (p.Thr147=) c.*64C= (n.*64C=) | |
| 5 | g.174729219C>G | CA362229884 | MSX2 | c.440C>G (p.Thr147Arg) c.*64C>G (n.*64C>G) | |
| 5 | g.174729219C>T | CA362229885 | MSX2 | c.440C>T (p.Thr147Met) c.*64C>T (n.*64C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174729220_174729221dup | CA2695198791 | MSX2 | c.441_442dup (p.Pro148ArgfsTer?) c.*65_*66dup (n.*65_*66dup) | ClinVar |
| 5 | g.174729220G>A | CA3565208 | MSX2 | c.441G>A (p.Thr147=) c.*65G>A (n.*65G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729220G>C | CA447978722 | MSX2 | c.441G>C (p.Thr147=) c.*65G>C (n.*65G>C) | |
| 5 | g.174729220G= | CA1602355891 | MSX2 | c.441G= (p.Thr147=) c.*65G= (n.*65G=) | |
| 5 | g.174729220G>T | CA3565207 | MSX2 | c.441G>T (p.Thr147=) c.*65G>T (n.*65G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729221C>A | CA362229888 | MSX2 | c.442C>A (p.Pro148Thr) c.*66C>A (n.*66C>A) | |
| 5 | g.174729221C= | CA1602355896 | MSX2 | c.442C= (p.Pro148=) c.*66C= (n.*66C=) | |
| 5 | g.174729221C>G | CA362229887 | MSX2 | c.442C>G (p.Pro148Ala) c.*66C>G (n.*66C>G) | |
| 5 | g.174729221C>T | CA362229886 | MSX2 | c.442C>T (p.Pro148Ser) c.*66C>T (n.*66C>T) | ClinVar dbSNP |
| 5 | g.174729222C>A | CA341436 | MSX2 | c.443C>A (p.Pro148His) c.*67C>A (n.*67C>A) | ClinVar dbSNP |
| 5 | g.174729222C= | CA1602355915 | MSX2 | c.443C= (p.Pro148=) c.*67C= (n.*67C=) | |
| 5 | g.174729222C>G | CA362229889 | MSX2 | c.443C>G (p.Pro148Arg) c.*67C>G (n.*67C>G) | |
| 5 | g.174729222C>T | CA251352 | MSX2 | c.443C>T (p.Pro148Leu) c.*67C>T (n.*67C>T) | ClinVar dbSNP |
| 5 | g.174729223C>A | CA447978724 | MSX2 | c.444C>A (p.Pro148=) c.*68C>A (n.*68C>A) | |
| 5 | g.174729223C= | CA1602355928 | MSX2 | c.444C= (p.Pro148=) c.*68C= (n.*68C=) | |
| 5 | g.174729223C>G | CA447978723 | MSX2 | c.444C>G (p.Pro148=) c.*68C>G (n.*68C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174729223C>T | CA3565209 | MSX2 | c.444C>T (p.Pro148=) c.*68C>T (n.*68C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729224T>A | CA362229890 | MSX2 | c.445T>A (p.Phe149Ile) c.*69T>A (n.*69T>A) | |
| 5 | g.174729224T>C | CA362229891 | MSX2 | c.445T>C (p.Phe149Leu) c.*69T>C (n.*69T>C) | |
| 5 | g.174729224T>G | CA362229892 | MSX2 | c.445T>G (p.Phe149Val) c.*69T>G (n.*69T>G) | |
| 5 | g.174729225T>A | CA362229893 | MSX2 | c.446T>A (p.Phe149Tyr) c.*70T>A (n.*70T>A) | |
| 5 | g.174729225T>C | CA362229894 | MSX2 | c.446T>C (p.Phe149Ser) c.*70T>C (n.*70T>C) | |
| 5 | g.174729225T>G | CA362229895 | MSX2 | c.446T>G (p.Phe149Cys) c.*70T>G (n.*70T>G) | |
| 5 | g.174729226T>A | CA362229896 | MSX2 | c.447T>A (p.Phe149Leu) c.*71T>A (n.*71T>A) | |
| 5 | g.174729226T>C | CA447978725 | MSX2 | c.447T>C (p.Phe149=) c.*71T>C (n.*71T>C) | dbSNP gnomAD v2 |
| 5 | g.174729226T>G | CA362229897 | MSX2 | c.447T>G (p.Phe149Leu) c.*71T>G (n.*71T>G) | |
| 5 | g.174729226T= | CA1602355937 | MSX2 | c.447T= (p.Phe149=) c.*71T= (n.*71T=) | |
| 5 | g.174729227A>C | CA362229900 | MSX2 | c.448A>C (p.Thr150Pro) c.*72A>C (n.*72A>C) | |
| 5 | g.174729227A>G | CA362229898 | MSX2 | c.448A>G (p.Thr150Ala) c.*72A>G (n.*72A>G) | |
| 5 | g.174729227A>T | CA362229899 | MSX2 | c.448A>T (p.Thr150Ser) c.*72A>T (n.*72A>T) | gnomAD v4 |
| 5 | g.174729228C>A | CA362229901 | MSX2 | c.449C>A (p.Thr150Asn) c.*73C>A (n.*73C>A) | |
| 5 | g.174729228C>G | CA362229902 | MSX2 | c.449C>G (p.Thr150Ser) c.*73C>G (n.*73C>G) | ClinVar dbSNP |
| 5 | g.174729228C>T | CA362229903 | MSX2 | c.449C>T (p.Thr150Ile) c.*73C>T (n.*73C>T) | |
| 5 | g.174729229C>A | CA447978726 | MSX2 | c.450C>A (p.Thr150=) c.*74C>A (n.*74C>A) | |
| 5 | g.174729229C>G | CA447978727 | MSX2 | c.450C>G (p.Thr150=) c.*74C>G (n.*74C>G) | |
| 5 | g.174729229C>T | CA447978728 | MSX2 | c.450C>T (p.Thr150=) c.*74C>T (n.*74C>T) | |
| 5 | g.174729230A= | CA1602355944 | MSX2 | c.451A= (p.Thr151=) c.*75A= (n.*75A=) | |
| 5 | g.174729230A>C | CA362229904 | MSX2 | c.451A>C (p.Thr151Pro) c.*75A>C (n.*75A>C) | |
| 5 | g.174729230A>G | CA132701452 | MSX2 | c.451A>G (p.Thr151Ala) c.*75A>G (n.*75A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174729230A>T | CA362229905 | MSX2 | c.451A>T (p.Thr151Ser) c.*75A>T (n.*75A>T) | |
| 5 | g.174729231C>A | CA362229906 | MSX2 | c.452C>A (p.Thr151Lys) c.*76C>A (n.*76C>A) | |
| 5 | g.174729231C= | CA1602355951 | MSX2 | c.452C= (p.Thr151=) c.*76C= (n.*76C=) | |
| 5 | g.174729231C>G | CA362229907 | MSX2 | c.452C>G (p.Thr151Arg) c.*76C>G (n.*76C>G) | |
| 5 | g.174729231C>T | CA362229908 | MSX2 | c.452C>T (p.Thr151Ile) c.*76C>T (n.*76C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174729232A>C | CA447978729 | MSX2 | c.453A>C (p.Thr151=) c.*77A>C (n.*77A>C) | |
| 5 | g.174729232A>G | CA447978730 | MSX2 | c.453A>G (p.Thr151=) c.*77A>G (n.*77A>G) | |
| 5 | g.174729232A>T | CA447978732 | MSX2 | c.453A>T (p.Thr151=) c.*77A>T (n.*77A>T) | |
| 5 | g.174729233T>A | CA362229909 | MSX2 | c.454T>A (p.Ser152Thr) c.*78T>A (n.*78T>A) | |
| 5 | g.174729233T>C | CA362229910 | MSX2 | c.454T>C (p.Ser152Pro) c.*78T>C (n.*78T>C) | |
| 5 | g.174729233T>G | CA362229911 | MSX2 | c.454T>G (p.Ser152Ala) c.*78T>G (n.*78T>G) | |
| 5 | g.174729235_174729244dup | CA923726260 | MSX2 | c.456_465dup (p.Ala156ProfsTer?) c.*80_*89dup (n.*80_*89dup) | |
| 5 | g.174729234C>A | CA362229912 | MSX2 | c.455C>A (p.Ser152Tyr) c.*79C>A (n.*79C>A) | |
| 5 | g.174729234C= | CA1602355962 | MSX2 | c.455C= (p.Ser152=) c.*79C= (n.*79C=) | |
| 5 | g.174729234C>G | CA362229913 | MSX2 | c.455C>G (p.Ser152Cys) c.*79C>G (n.*79C>G) | |
| 5 | g.174729234C>T | CA3565210 | MSX2 | c.455C>T (p.Ser152Phe) c.*79C>T (n.*79C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729235C>A | CA447978734 | MSX2 | c.456C>A (p.Ser152=) c.*80C>A (n.*80C>A) | |
| 5 | g.174729235C>G | CA447978735 | MSX2 | c.456C>G (p.Ser152=) c.*80C>G (n.*80C>G) | |
| 5 | g.174729235C>T | CA447978736 | MSX2 | c.456C>T (p.Ser152=) c.*80C>T (n.*80C>T) | |
| 5 | g.174729236C>A | CA362229916 | MSX2 | c.457C>A (p.Gln153Lys) c.*81C>A (n.*81C>A) | |
| 5 | g.174729236C>G | CA362229914 | MSX2 | c.457C>G (p.Gln153Glu) c.*81C>G (n.*81C>G) | |
| 5 | g.174729236C>T | CA362229915 | MSX2 | c.457C>T (p.Gln153Ter) c.*81C>T (n.*81C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.174729237A>C | CA362229917 | MSX2 | c.458A>C (p.Gln153Pro) c.*82A>C (n.*82A>C) | |
| 5 | g.174729237A>G | CA362229918 | MSX2 | c.458A>G (p.Gln153Arg) c.*82A>G (n.*82A>G) | |
| 5 | g.174729237A>T | CA362229919 | MSX2 | c.458A>T (p.Gln153Leu) c.*82A>T (n.*82A>T) | |
| 5 | g.174729238G>A | CA447978738 | MSX2 | c.459G>A (p.Gln153=) c.*83G>A (n.*83G>A) | dbSNP gnomAD v4 |
| 5 | g.174729238G>C | CA362229920 | MSX2 | c.459G>C (p.Gln153His) c.*83G>C (n.*83G>C) | dbSNP |
| 5 | g.174729238G= | CA1602355974 | MSX2 | c.459G= (p.Gln153=) c.*83G= (n.*83G=) | |
| 5 | g.174729238G>T | CA362229921 | MSX2 | c.459G>T (p.Gln153His) c.*83G>T (n.*83G>T) | |
| 5 | g.174729239C>A | CA362229922 | MSX2 | c.460C>A (p.Leu154Ile) c.*84C>A (n.*84C>A) | |
| 5 | g.174729239C>G | CA362229923 | MSX2 | c.460C>G (p.Leu154Val) c.*84C>G (n.*84C>G) | |
| 5 | g.174729239C>T | CA362229924 | MSX2 | c.460C>T (p.Leu154Phe) c.*84C>T (n.*84C>T) | |
| 5 | g.174729240T>A | CA362229925 | MSX2 | c.461T>A (p.Leu154His) c.*85T>A (n.*85T>A) | |
| 5 | g.174729240T>C | CA362229926 | MSX2 | c.461T>C (p.Leu154Pro) c.*85T>C (n.*85T>C) | gnomAD v4 |
| 5 | g.174729240T>G | CA362229927 | MSX2 | c.461T>G (p.Leu154Arg) c.*85T>G (n.*85T>G) | |
| 5 | g.174729241C>A | CA447978739 | MSX2 | c.462C>A (p.Leu154=) c.*86C>A (n.*86C>A) | |
| 5 | g.174729241C= | CA1602355984 | MSX2 | c.462C= (p.Leu154=) c.*86C= (n.*86C=) | |
| 5 | g.174729241C>G | CA447978740 | MSX2 | c.462C>G (p.Leu154=) c.*86C>G (n.*86C>G) | |
| 5 | g.174729241C>T | CA447978741 | MSX2 | c.462C>T (p.Leu154=) c.*86C>T (n.*86C>T) | dbSNP |
| 5 | g.174729242C>A | CA362229928 | MSX2 | c.463C>A (p.Leu155Ile) c.*87C>A (n.*87C>A) | |
| 5 | g.174729242C>G | CA362229930 | MSX2 | c.463C>G (p.Leu155Val) c.*87C>G (n.*87C>G) | |
| 5 | g.174729242C>T | CA362229929 | MSX2 | c.463C>T (p.Leu155Phe) c.*87C>T (n.*87C>T) | |
| 5 | g.174729243T>A | CA362229931 | MSX2 | c.464T>A (p.Leu155His) c.*88T>A (n.*88T>A) | |
| 5 | g.174729243T>C | CA362229932 | MSX2 | c.464T>C (p.Leu155Pro) c.*88T>C (n.*88T>C) | |
| 5 | g.174729243T>G | CA362229933 | MSX2 | c.464T>G (p.Leu155Arg) c.*88T>G (n.*88T>G) | |
| 5 | g.174729244C>A | CA447978743 | MSX2 | c.465C>A (p.Leu155=) c.*89C>A (n.*89C>A) | |
| 5 | g.174729244C= | CA1602356003 | MSX2 | c.465C= (p.Leu155=) c.*89C= (n.*89C=) | |
| 5 | g.174729244C>G | CA447978746 | MSX2 | c.465C>G (p.Leu155=) c.*89C>G (n.*89C>G) | |
| 5 | g.174729244C>T | CA447978745 | MSX2 | c.465C>T (p.Leu155=) c.*89C>T (n.*89C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174729245G>A | CA3565211 | MSX2 | c.466G>A (p.Ala156Thr) c.*90G>A (n.*90G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174729245G>C | CA362229934 | MSX2 | c.466G>C (p.Ala156Pro) c.*90G>C (n.*90G>C) | |
| 5 | g.174729245G= | CA1602356012 | MSX2 | c.466G= (p.Ala156=) c.*90G= (n.*90G=) | |
| 5 | g.174729245G>T | CA362229935 | MSX2 | c.466G>T (p.Ala156Ser) c.*90G>T (n.*90G>T) | |
| 5 | g.174729246C>A | CA362229936 | MSX2 | c.467C>A (p.Ala156Asp) c.*91C>A (n.*91C>A) | |
| 5 | g.174729246C>G | CA362229937 | MSX2 | c.467C>G (p.Ala156Gly) c.*91C>G (n.*91C>G) | |
| 5 | g.174729246C>T | CA362229938 | MSX2 | c.467C>T (p.Ala156Val) c.*91C>T (n.*91C>T) | gnomAD v4 |
| 5 | g.174729248_174729263dup | CA2676572995 | MSX2 | c.469_484dup (p.Arg162ProfsTer?) c.*93_*108dup (n.*93_*108dup) | gnomAD v4 |
| 5 | g.174729247_174729263dup | CA923726330 | MSX2 | c.468_484dup (p.Arg162ProfsTer24) c.*92_*108dup (n.*92_*108dup) | |
| 5 | g.174729247C>A | CA447978750 | MSX2 | c.468C>A (p.Ala156=) c.*92C>A (n.*92C>A) | |
| 5 | g.174729247C>G | CA447978751 | MSX2 | c.468C>G (p.Ala156=) c.*92C>G (n.*92C>G) | |
| 5 | g.174729247C>T | CA447978752 | MSX2 | c.468C>T (p.Ala156=) c.*92C>T (n.*92C>T) | |
| 5 | g.174729248C>A | CA362229939 | MSX2 | c.469C>A (p.Leu157Met) c.*93C>A (n.*93C>A) | |
| 5 | g.174729248C>G | CA362229940 | MSX2 | c.469C>G (p.Leu157Val) c.*93C>G (n.*93C>G) | |
| 5 | g.174729248C>T | CA447978753 | MSX2 | c.469C>T (p.Leu157=) c.*93C>T (n.*93C>T) | gnomAD v4 |
| 5 | g.174729249T>A | CA362229942 | MSX2 | c.470T>A (p.Leu157Gln) c.*94T>A (n.*94T>A) | |
| 5 | g.174729249T>C | CA362229943 | MSX2 | c.470T>C (p.Leu157Pro) c.*94T>C (n.*94T>C) | |
| 5 | g.174729249T>G | CA362229941 | MSX2 | c.470T>G (p.Leu157Arg) c.*94T>G (n.*94T>G) | |
| 5 | g.174729250G>A | CA447978755 | MSX2 | c.471G>A (p.Leu157=) c.*95G>A (n.*95G>A) | dbSNP gnomAD v4 |
| 5 | g.174729250G>C | CA447978756 | MSX2 | c.471G>C (p.Leu157=) c.*95G>C (n.*95G>C) | |
| 5 | g.174729250G= | CA1602356016 | MSX2 | c.471G= (p.Leu157=) c.*95G= (n.*95G=) | |
| 5 | g.174729250G>T | CA447978757 | MSX2 | c.471G>T (p.Leu157=) c.*95G>T (n.*95G>T) | |
| 5 | g.174729251G>A | CA362229944 | MSX2 | c.472G>A (p.Glu158Lys) c.*96G>A (n.*96G>A) | COSMIC |
| 5 | g.174729251G>C | CA362229945 | MSX2 | c.472G>C (p.Glu158Gln) c.*96G>C (n.*96G>C) | |
| 5 | g.174729251G>T | CA362229946 | MSX2 | c.472G>T (p.Glu158Ter) c.*96G>T (n.*96G>T) | |
| 5 | g.174729252A>C | CA362229947 | MSX2 | c.473A>C (p.Glu158Ala) c.*97A>C (n.*97A>C) | |
| 5 | g.174729252A>G | CA362229948 | MSX2 | c.473A>G (p.Glu158Gly) c.*97A>G (n.*97A>G) | |
| 5 | g.174729252A>T | CA362229949 | MSX2 | c.473A>T (p.Glu158Val) c.*97A>T (n.*97A>T) | |
| 5 | g.174729254_174729259del | CA923726259 | MSX2 | c.475_480del (p.Arg159_Lys160del) c.*99_*104del (n.*99_*104del) | ClinVar dbSNP |
| 5 | g.174729253G>A | CA447978758 | MSX2 | c.474G>A (p.Glu158=) c.*98G>A (n.*98G>A) | ClinVar gnomAD v4 |
| 5 | g.174729253G>C | CA362229950 | MSX2 | c.474G>C (p.Glu158Asp) c.*98G>C (n.*98G>C) | |
| 5 | g.174729253G>T | CA362229951 | MSX2 | c.474G>T (p.Glu158Asp) c.*98G>T (n.*98G>T) | |
| 5 | g.174729254C>A | CA362229952 | MSX2 | c.475C>A (p.Arg159Ser) c.*99C>A (n.*99C>A) | |
| 5 | g.174729254C= | CA1602356019 | MSX2 | c.475C= (p.Arg159=) c.*99C= (n.*99C=) | |
| 5 | g.174729254C>G | CA362229953 | MSX2 | c.475C>G (p.Arg159Gly) c.*99C>G (n.*99C>G) | |
| 5 | g.174729254C>T | CA3565212 | MSX2 | c.475C>T (p.Arg159Cys) c.*99C>T (n.*99C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729255G>A | CA3565213 | MSX2 | c.476G>A (p.Arg159His) c.*100G>A (n.*100G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729255G>C | CA362229954 | MSX2 | c.476G>C (p.Arg159Pro) c.*100G>C (n.*100G>C) | |
| 5 | g.174729255G= | CA1602356023 | MSX2 | c.476G= (p.Arg159=) c.*100G= (n.*100G=) | |
| 5 | g.174729255G>T | CA3565214 | MSX2 | c.476G>T (p.Arg159Leu) c.*100G>T (n.*100G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729256C>A | CA447978764 | MSX2 | c.477C>A (p.Arg159=) c.*101C>A (n.*101C>A) | |
| 5 | g.174729256C>G | CA447978766 | MSX2 | c.477C>G (p.Arg159=) c.*101C>G (n.*101C>G) | |
| 5 | g.174729256C>T | CA447978767 | MSX2 | c.477C>T (p.Arg159=) c.*101C>T (n.*101C>T) | |
| 5 | g.174729257A>C | CA362229957 | MSX2 | c.478A>C (p.Lys160Gln) c.*102A>C (n.*102A>C) | |
| 5 | g.174729257A>G | CA362229956 | MSX2 | c.478A>G (p.Lys160Glu) c.*102A>G (n.*102A>G) | |
| 5 | g.174729257A>T | CA362229955 | MSX2 | c.478A>T (p.Lys160Ter) c.*102A>T (n.*102A>T) | |
| 5 | g.174729258A= | CA1602356029 | MSX2 | c.479A= (p.Lys160=) c.*103A= (n.*103A=) | |
| 5 | g.174729258A>C | CA362229958 | MSX2 | c.479A>C (p.Lys160Thr) c.*103A>C (n.*103A>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174729258A>G | CA3565215 | MSX2 | c.479A>G (p.Lys160Arg) c.*103A>G (n.*103A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729258A>T | CA362229959 | MSX2 | c.479A>T (p.Lys160Met) c.*103A>T (n.*103A>T) | |
| 5 | g.174729259G>A | CA447978769 | MSX2 | c.480G>A (p.Lys160=) c.*104G>A (n.*104G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729259G>C | CA362229960 | MSX2 | c.480G>C (p.Lys160Asn) c.*104G>C (n.*104G>C) | |
| 5 | g.174729259G= | CA1602356038 | MSX2 | c.480G= (p.Lys160=) c.*104G= (n.*104G=) | |
| 5 | g.174729259G>T | CA362229961 | MSX2 | c.480G>T (p.Lys160Asn) c.*104G>T (n.*104G>T) | |
| 5 | g.174729260T>A | CA362229962 | MSX2 | c.481T>A (p.Phe161Ile) c.*105T>A (n.*105T>A) | |
| 5 | g.174729260T>C | CA362229963 | MSX2 | c.481T>C (p.Phe161Leu) c.*105T>C (n.*105T>C) | |
| 5 | g.174729260T>G | CA362229964 | MSX2 | c.481T>G (p.Phe161Val) c.*105T>G (n.*105T>G) | |
| 5 | g.174729261T>A | CA3565216 | MSX2 | c.482T>A (p.Phe161Tyr) c.*106T>A (n.*106T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729261T>C | CA362229965 | MSX2 | c.482T>C (p.Phe161Ser) c.*106T>C (n.*106T>C) | |
| 5 | g.174729261T>G | CA362229966 | MSX2 | c.482T>G (p.Phe161Cys) c.*106T>G (n.*106T>G) | |
| 5 | g.174729261T= | CA1602356043 | MSX2 | c.482T= (p.Phe161=) c.*106T= (n.*106T=) | |
| 5 | g.174729262C>A | CA362229967 | MSX2 | c.483C>A (p.Phe161Leu) c.*107C>A (n.*107C>A) | |
| 5 | g.174729262C>G | CA362229968 | MSX2 | c.483C>G (p.Phe161Leu) c.*107C>G (n.*107C>G) | |
| 5 | g.174729262C>T | CA447978775 | MSX2 | c.483C>T (p.Phe161=) c.*107C>T (n.*107C>T) | COSMIC |
| 5 | g.174729263C>A | CA362229969 | MSX2 | c.484C>A (p.Arg162Ser) c.*108C>A (n.*108C>A) | dbSNP |
| 5 | g.174729263C= | CA1602356047 | MSX2 | c.484C= (p.Arg162=) c.*108C= (n.*108C=) | |
| 5 | g.174729263C>G | CA362229970 | MSX2 | c.484C>G (p.Arg162Gly) c.*108C>G (n.*108C>G) | |
| 5 | g.174729263C>T | CA3565217 | MSX2 | c.484C>T (p.Arg162Cys) c.*108C>T (n.*108C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729264G>A | CA3565218 | MSX2 | c.485G>A (p.Arg162His) c.*109G>A (n.*109G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729264G>C | CA362229972 | MSX2 | c.485G>C (p.Arg162Pro) c.*109G>C (n.*109G>C) | |
| 5 | g.174729264G= | CA1602356053 | MSX2 | c.485G= (p.Arg162=) c.*109G= (n.*109G=) | |
| 5 | g.174729264G>T | CA362229971 | MSX2 | c.485G>T (p.Arg162Leu) c.*109G>T (n.*109G>T) | |
| 5 | g.174729265T>A | CA447978781 | MSX2 | c.486T>A (p.Arg162=) c.*110T>A (n.*110T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174729265T>C | CA447978782 | MSX2 | c.486T>C (p.Arg162=) c.*110T>C (n.*110T>C) | |
| 5 | g.174729265T>G | CA3565219 | MSX2 | c.486T>G (p.Arg162=) c.*110T>G (n.*110T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729265T= | CA1602356058 | MSX2 | c.486T= (p.Arg162=) c.*110T= (n.*110T=) | |
| 5 | g.174729266C>A | CA362229975 | MSX2 | c.487C>A (p.Gln163Lys) c.*111C>A (n.*111C>A) | |
| 5 | g.174729266C>G | CA362229973 | MSX2 | c.487C>G (p.Gln163Glu) c.*111C>G (n.*111C>G) | |
| 5 | g.174729266C>T | CA362229974 | MSX2 | c.487C>T (p.Gln163Ter) c.*111C>T (n.*111C>T) | COSMIC |
| 5 | g.174729267A>C | CA362229976 | MSX2 | c.488A>C (p.Gln163Pro) c.*112A>C (n.*112A>C) | |
| 5 | g.174729267A>G | CA362229977 | MSX2 | c.488A>G (p.Gln163Arg) c.*112A>G (n.*112A>G) | |
| 5 | g.174729267A>T | CA362229978 | MSX2 | c.488A>T (p.Gln163Leu) c.*112A>T (n.*112A>T) | |
| 5 | g.174729268G>A | CA447978787 | MSX2 | c.489G>A (p.Gln163=) c.*113G>A (n.*113G>A) | |
| 5 | g.174729268G>C | CA362229979 | MSX2 | c.489G>C (p.Gln163His) c.*113G>C (n.*113G>C) | |
| 5 | g.174729268G>T | CA362229980 | MSX2 | c.489G>T (p.Gln163His) c.*113G>T (n.*113G>T) | |
| 5 | g.174729269A= | CA1602356059 | MSX2 | c.490A= (p.Lys164=) c.*114A= (n.*114A=) | |
| 5 | g.174729269A>C | CA362229981 | MSX2 | c.490A>C (p.Lys164Gln) c.*114A>C (n.*114A>C) | dbSNP |
| 5 | g.174729269A>G | CA362229982 | MSX2 | c.490A>G (p.Lys164Glu) c.*114A>G (n.*114A>G) | |
| 5 | g.174729269A>T | CA362229983 | MSX2 | c.490A>T (p.Lys164Ter) c.*114A>T (n.*114A>T) | |
| 5 | g.174729270A>C | CA362229984 | MSX2 | c.491A>C (p.Lys164Thr) c.*115A>C (n.*115A>C) | |
| 5 | g.174729270A>G | CA362229985 | MSX2 | c.491A>G (p.Lys164Arg) c.*115A>G (n.*115A>G) | |
| 5 | g.174729270A>T | CA362229986 | MSX2 | c.491A>T (p.Lys164Ile) c.*115A>T (n.*115A>T) | |
| 5 | g.174729270_174729280del | CA2676572997 | MSX2 | c.491_501del (p.Lys164IlefsTer?) c.*115_*125del (n.*115_*125del) | gnomAD v4 |
| 5 | g.174729270_174729281dup | CA2676572996 | MSX2 | c.491_502dup (p.Ser168Ter) c.*115_*126dup (n.*115_*126dup) | gnomAD v4 |
| 5 | g.174729271A>C | CA362229987 | MSX2 | c.492A>C (p.Lys164Asn) c.*116A>C (n.*116A>C) | |
| 5 | g.174729271A>G | CA447978789 | MSX2 | c.492A>G (p.Lys164=) c.*116A>G (n.*116A>G) | |
| 5 | g.174729271A>T | CA362229988 | MSX2 | c.492A>T (p.Lys164Asn) c.*116A>T (n.*116A>T) | |
| 5 | g.174729272C>A | CA362229989 | MSX2 | c.493C>A (p.Gln165Lys) c.*117C>A (n.*117C>A) | |
| 5 | g.174729272C>G | CA362229990 | MSX2 | c.493C>G (p.Gln165Glu) c.*117C>G (n.*117C>G) | gnomAD v4 |
| 5 | g.174729272C>T | CA362229991 | MSX2 | c.493C>T (p.Gln165Ter) c.*117C>T (n.*117C>T) | |
| 5 | g.174729273A= | CA1602356062 | MSX2 | c.494A= (p.Gln165=) c.*118A= (n.*118A=) | |
| 5 | g.174729273A>C | CA362229992 | MSX2 | c.494A>C (p.Gln165Pro) c.*118A>C (n.*118A>C) | |
| 5 | g.174729273A>G | CA3565221 | MSX2 | c.494A>G (p.Gln165Arg) c.*118A>G (n.*118A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729273A>T | CA3565220 | MSX2 | c.494A>T (p.Gln165Leu) c.*118A>T (n.*118A>T) | dbSNP ExAC gnomAD v4 |
| 5 | g.174729274G>A | CA447978793 | MSX2 | c.495G>A (p.Gln165=) c.*119G>A (n.*119G>A) | ClinVar dbSNP |
| 5 | g.174729274G>C | CA362229993 | MSX2 | c.495G>C (p.Gln165His) c.*119G>C (n.*119G>C) | gnomAD v4 |
| 5 | g.174729274G= | CA1602356070 | MSX2 | c.495G= (p.Gln165=) c.*119G= (n.*119G=) | |
| 5 | g.174729274G>T | CA362229994 | MSX2 | c.495G>T (p.Gln165His) c.*119G>T (n.*119G>T) | |
| 5 | g.174729275T>A | CA362229995 | MSX2 | c.496T>A (p.Tyr166Asn) c.*120T>A (n.*120T>A) | COSMIC |
| 5 | g.174729275T>C | CA362229996 | MSX2 | c.496T>C (p.Tyr166His) c.*120T>C (n.*120T>C) | COSMIC |
| 5 | g.174729275T>G | CA362229997 | MSX2 | c.496T>G (p.Tyr166Asp) c.*120T>G (n.*120T>G) | |
| 5 | g.174729276A>C | CA362230000 | MSX2 | c.497A>C (p.Tyr166Ser) c.*121A>C (n.*121A>C) | |
| 5 | g.174729276A>G | CA362229999 | MSX2 | c.497A>G (p.Tyr166Cys) c.*121A>G (n.*121A>G) | |
| 5 | g.174729276A>T | CA362229998 | MSX2 | c.497A>T (p.Tyr166Phe) c.*121A>T (n.*121A>T) | |
| 5 | g.174729277C>A | CA362230001 | MSX2 | c.498C>A (p.Tyr166Ter) c.*122C>A (n.*122C>A) | |
| 5 | g.174729277C>G | CA362230002 | MSX2 | c.498C>G (p.Tyr166Ter) c.*122C>G (n.*122C>G) | |
| 5 | g.174729277C>T | CA447978798 | MSX2 | c.498C>T (p.Tyr166=) c.*122C>T (n.*122C>T) | gnomAD v4 |
| 5 | g.174729278C>A | CA362230003 | MSX2 | c.499C>A (p.Leu167Ile) c.*123C>A (n.*123C>A) | |
| 5 | g.174729278C>G | CA362230004 | MSX2 | c.499C>G (p.Leu167Val) c.*123C>G (n.*123C>G) | |
| 5 | g.174729278C>T | CA362230005 | MSX2 | c.499C>T (p.Leu167Phe) c.*123C>T (n.*123C>T) | |
| 5 | g.174729279T>A | CA362230006 | MSX2 | c.500T>A (p.Leu167His) c.*124T>A (n.*124T>A) | |
| 5 | g.174729279T>C | CA362230007 | MSX2 | c.500T>C (p.Leu167Pro) c.*124T>C (n.*124T>C) | dbSNP |
| 5 | g.174729279T>G | CA362230008 | MSX2 | c.500T>G (p.Leu167Arg) c.*124T>G (n.*124T>G) | |
| 5 | g.174729279T= | CA1602356072 | MSX2 | c.500T= (p.Leu167=) c.*124T= (n.*124T=) | |
| 5 | g.174729280C>A | CA447978803 | MSX2 | c.501C>A (p.Leu167=) c.*125C>A (n.*125C>A) | |
| 5 | g.174729280C= | CA1602356074 | MSX2 | c.501C= (p.Leu167=) c.*125C= (n.*125C=) | |
| 5 | g.174729280C>G | CA3565222 | MSX2 | c.501C>G (p.Leu167=) c.*125C>G (n.*125C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729280C>T | CA447978805 | MSX2 | c.501C>T (p.Leu167=) c.*125C>T (n.*125C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174729281T>A | CA362230009 | MSX2 | c.502T>A (p.Ser168Thr) c.*126T>A (n.*126T>A) | |
| 5 | g.174729281T>C | CA362230010 | MSX2 | c.502T>C (p.Ser168Pro) c.*126T>C (n.*126T>C) | |
| 5 | g.174729281T>G | CA362230011 | MSX2 | c.502T>G (p.Ser168Ala) c.*126T>G (n.*126T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174729281T= | CA1602356079 | MSX2 | c.502T= (p.Ser168=) c.*126T= (n.*126T=) | |
| 5 | g.174729282C>A | CA362230013 | MSX2 | c.503C>A (p.Ser168Tyr) c.*127C>A (n.*127C>A) | |
| 5 | g.174729282C= | CA1602356081 | MSX2 | c.503C= (p.Ser168=) c.*127C= (n.*127C=) | |
| 5 | g.174729282C>G | CA362230012 | MSX2 | c.503C>G (p.Ser168Cys) c.*127C>G (n.*127C>G) | |
| 5 | g.174729282C>T | CA3565223 | MSX2 | c.503C>T (p.Ser168Phe) c.*127C>T (n.*127C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.174729283C>A | CA447978807 | MSX2 | c.504C>A (p.Ser168=) c.*128C>A (n.*128C>A) | |
| 5 | g.174729283C= | CA1602356083 | MSX2 | c.504C= (p.Ser168=) c.*128C= (n.*128C=) | |
| 5 | g.174729283C>G | CA447978808 | MSX2 | c.504C>G (p.Ser168=) c.*128C>G (n.*128C>G) | |
| 5 | g.174729283C>T | CA447978809 | MSX2 | c.504C>T (p.Ser168=) c.*128C>T (n.*128C>T) | |
| 5 | g.174729284A>C | CA362230014 | MSX2 | c.505A>C (p.Ile169Leu) c.*129A>C (n.*129A>C) | |
| 5 | g.174729284A>G | CA362230015 | MSX2 | c.505A>G (p.Ile169Val) c.*129A>G (n.*129A>G) | ClinVar dbSNP |
| 5 | g.174729284A>T | CA362230016 | MSX2 | c.505A>T (p.Ile169Phe) c.*129A>T (n.*129A>T) | |
| 5 | g.174729284_174729287dup | CA913189699 | MSX2 | c.505_508dup (p.Ala170AspfsTer?) c.*129_*132dup (n.*129_*132dup) | ClinVar dbSNP |
| 5 | g.174729285T>A | CA362230017 | MSX2 | c.506T>A (p.Ile169Asn) c.*130T>A (n.*130T>A) | |
| 5 | g.174729285T>C | CA362230018 | MSX2 | c.506T>C (p.Ile169Thr) c.*130T>C (n.*130T>C) | gnomAD v4 |
| 5 | g.174729285T>G | CA362230019 | MSX2 | c.506T>G (p.Ile169Ser) c.*130T>G (n.*130T>G) | |
| 5 | g.174729286T>A | CA447978812 | MSX2 | c.507T>A (p.Ile169=) c.*131T>A (n.*131T>A) | |
| 5 | g.174729286T>C | CA447978814 | MSX2 | c.507T>C (p.Ile169=) c.*131T>C (n.*131T>C) | |
| 5 | g.174729286T>G | CA362230020 | MSX2 | c.507T>G (p.Ile169Met) c.*131T>G (n.*131T>G) | |
| 5 | g.174729287G>A | CA362230021 | MSX2 | c.508G>A (p.Ala170Thr) c.*132G>A (n.*132G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729287G>C | CA362230022 | MSX2 | c.508G>C (p.Ala170Pro) c.*132G>C (n.*132G>C) | gnomAD v4 |
| 5 | g.174729287G= | CA1602356091 | MSX2 | c.508G= (p.Ala170=) c.*132G= (n.*132G=) | |
| 5 | g.174729287G>T | CA362230023 | MSX2 | c.508G>T (p.Ala170Ser) c.*132G>T (n.*132G>T) | |
| 5 | g.174729288C>A | CA362230024 | MSX2 | c.509C>A (p.Ala170Glu) c.*133C>A (n.*133C>A) | |
| 5 | g.174729288C>G | CA362230025 | MSX2 | c.509C>G (p.Ala170Gly) c.*133C>G (n.*133C>G) | |
| 5 | g.174729288C>T | CA362230026 | MSX2 | c.509C>T (p.Ala170Val) c.*133C>T (n.*133C>T) | |
| 5 | g.174729289A>C | CA447978821 | MSX2 | c.510A>C (p.Ala170=) c.*134A>C (n.*134A>C) | |
| 5 | g.174729289A>G | CA447978822 | MSX2 | c.510A>G (p.Ala170=) c.*134A>G (n.*134A>G) | |
| 5 | g.174729289A>T | CA447978823 | MSX2 | c.510A>T (p.Ala170=) c.*134A>T (n.*134A>T) | |
| 5 | g.174729290G>A | CA362230029 | MSX2 | c.511G>A (p.Glu171Lys) c.*135G>A (n.*135G>A) | |
| 5 | g.174729290G>C | CA362230028 | MSX2 | c.511G>C (p.Glu171Gln) c.*135G>C (n.*135G>C) | |
| 5 | g.174729290G>T | CA362230027 | MSX2 | c.511G>T (p.Glu171Ter) c.*135G>T (n.*135G>T) | |
| 5 | g.174729291A>C | CA362230031 | MSX2 | c.512A>C (p.Glu171Ala) c.*136A>C (n.*136A>C) | |
| 5 | g.174729291A>G | CA362230030 | MSX2 | c.512A>G (p.Glu171Gly) c.*136A>G (n.*136A>G) | gnomAD v4 |
| 5 | g.174729291A>T | CA362230032 | MSX2 | c.512A>T (p.Glu171Val) c.*136A>T (n.*136A>T) | |
| 5 | g.174729292G>A | CA447978827 | MSX2 | c.513G>A (p.Glu171=) c.*137G>A (n.*137G>A) | |
| 5 | g.174729292G>C | CA362230033 | MSX2 | c.513G>C (p.Glu171Asp) c.*137G>C (n.*137G>C) | |
| 5 | g.174729292G= | CA1602356097 | MSX2 | c.513G= (p.Glu171=) c.*137G= (n.*137G=) | |
| 5 | g.174729292G>T | CA362230034 | MSX2 | c.513G>T (p.Glu171Asp) c.*137G>T (n.*137G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174729293C>A | CA362230035 | MSX2 | c.514C>A (p.Arg172Ser) c.*138C>A (n.*138C>A) | |
| 5 | g.174729293C= | CA1602356107 | MSX2 | c.514C= (p.Arg172=) c.*138C= (n.*138C=) | |
| 5 | g.174729293C>G | CA362230036 | MSX2 | c.514C>G (p.Arg172Gly) c.*138C>G (n.*138C>G) | |
| 5 | g.174729293C>T | CA3565224 | MSX2 | c.514C>T (p.Arg172Cys) c.*138C>T (n.*138C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174729294G>A | CA127003 | MSX2 | c.515G>A (p.Arg172His) c.*139G>A (n.*139G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174729294G>C | CA362230037 | MSX2 | c.515G>C (p.Arg172Pro) c.*139G>C (n.*139G>C) | |
| 5 | g.174729294G= | CA1602356115 | MSX2 | c.515G= (p.Arg172=) c.*139G= (n.*139G=) | |
| 5 | g.174729294G>T | CA362230038 | MSX2 | c.515G>T (p.Arg172Leu) c.*139G>T (n.*139G>T) |