| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.4863004G>A | CA356138826 | MSX1 | c.773G>A (p.Gly258Asp) n.485G>A | |
| 4 | g.4863004G>C | CA356138827 | MSX1 | c.773G>C (p.Gly258Ala) n.485G>C | |
| 4 | g.4863004G>T | CA356138828 | MSX1 | c.773G>T (p.Gly258Val) n.485G>T | |
| 4 | g.4863005C>A | CA2833114 | MSX1 | c.774C>A (p.Gly258=) n.486C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4863005C= | CA1435013738 | MSX1 | c.774C= (p.Gly258=) n.486C= | |
| 4 | g.4863005C>G | CA438366321 | MSX1 | c.774C>G (p.Gly258=) n.486C>G | gnomAD v4 |
| 4 | g.4863005C>T | CA2833113 | MSX1 | c.774C>T (p.Gly258=) n.486C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.4863006G>A | CA356138829 | MSX1 | c.775G>A (p.Gly259Ser) n.487G>A | dbSNP gnomAD v4 |
| 4 | g.4863006G>C | CA356138830 | MSX1 | c.775G>C (p.Gly259Arg) n.487G>C | |
| 4 | g.4863006G= | CA1435013739 | MSX1 | c.775G= (p.Gly259=) n.487G= | |
| 4 | g.4863006G>T | CA356138831 | MSX1 | c.775G>T (p.Gly259Cys) n.487G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863007G>A | CA356138833 | MSX1 | c.776G>A (p.Gly259Asp) n.488G>A | |
| 4 | g.4863007G>C | CA356138834 | MSX1 | c.776G>C (p.Gly259Ala) n.488G>C | |
| 4 | g.4863007G>T | CA356138832 | MSX1 | c.776G>T (p.Gly259Val) n.488G>T | |
| 4 | g.4863008C>A | CA438366325 | MSX1 | c.777C>A (p.Gly259=) n.489C>A | |
| 4 | g.4863008C= | CA1435013740 | MSX1 | c.777C= (p.Gly259=) n.489C= | |
| 4 | g.4863008C>G | CA438366326 | MSX1 | c.777C>G (p.Gly259=) n.489C>G | |
| 4 | g.4863008C>T | CA438366327 | MSX1 | c.777C>T (p.Gly259=) n.489C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863009C>A | CA2833115 | MSX1 | c.778C>A (p.Pro260Thr) n.490C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.4863009C= | CA1435013741 | MSX1 | c.778C= (p.Pro260=) n.490C= | |
| 4 | g.4863009C>G | CA356138835 | MSX1 | c.778C>G (p.Pro260Ala) n.490C>G | |
| 4 | g.4863009C>T | CA356138836 | MSX1 | c.778C>T (p.Pro260Ser) n.490C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863010C>A | CA356138837 | MSX1 | c.779C>A (p.Pro260His) n.491C>A | |
| 4 | g.4863010C>G | CA356138838 | MSX1 | c.779C>G (p.Pro260Arg) n.491C>G | |
| 4 | g.4863010C>T | CA356138839 | MSX1 | c.779C>T (p.Pro260Leu) n.491C>T | gnomAD v4 |
| 4 | g.4863011C>A | CA438366329 | MSX1 | c.780C>A (p.Pro260=) n.492C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863011C= | CA1435013742 | MSX1 | c.780C= (p.Pro260=) n.492C= | |
| 4 | g.4863011C>G | CA2833116 | MSX1 | c.780C>G (p.Pro260=) n.492C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4863011C>T | CA438366330 | MSX1 | c.780C>T (p.Pro260=) n.492C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863012G>A | CA91672254 | MSX1 | c.781G>A (p.Ala261Thr) n.493G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863012G>C | CA356138840 | MSX1 | c.781G>C (p.Ala261Pro) n.493G>C | |
| 4 | g.4863012G= | CA1435013743 | MSX1 | c.781G= (p.Ala261=) n.493G= | |
| 4 | g.4863012G>T | CA356138841 | MSX1 | c.781G>T (p.Ala261Ser) n.493G>T | |
| 4 | g.4863013C>A | CA356138842 | MSX1 | c.782C>A (p.Ala261Glu) n.494C>A | |
| 4 | g.4863013C= | CA1435013744 | MSX1 | c.782C= (p.Ala261=) n.494C= | |
| 4 | g.4863013C>G | CA356138843 | MSX1 | c.782C>G (p.Ala261Gly) n.494C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863013C>T | CA356138844 | MSX1 | c.782C>T (p.Ala261Val) n.494C>T | |
| 4 | g.4863014A= | CA1435013746 | MSX1 | c.783A= (p.Ala261=) n.495A= | |
| 4 | g.4863014A>C | CA438366337 | MSX1 | c.783A>C (p.Ala261=) n.495A>C | |
| 4 | g.4863014A>G | CA438366338 | MSX1 | c.783A>G (p.Ala261=) n.495A>G | |
| 4 | g.4863014A>T | CA438366339 | MSX1 | c.783A>T (p.Ala261=) n.495A>T | |
| 4 | g.4863014_4863040delinsAGCTGTAGCGGCCGCGGCGGGTGCCTC | CA1435013745 | MSX1 | c.783_809delinsAGCTGTAGCGGCCGCGGCGGGTGCCTC (p.Ala261=) | |
| 4 | g.4863015G>A | CA356138845 | MSX1 | c.784G>A (p.Ala262Thr) n.496G>A | gnomAD v4 |
| 4 | g.4863015G>C | CA356138847 | MSX1 | c.784G>C (p.Ala262Pro) n.496G>C | |
| 4 | g.4863015G>T | CA356138846 | MSX1 | c.784G>T (p.Ala262Ser) n.496G>T | |
| 4 | g.4863017_4863025dup | CA438366340 | MSX1 | c.786_794dup (p.Ala265_Ala266insValAlaAla) n.498_506dup | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863018_4863043del | CA549707244 | MSX1 | c.787_812del (p.Val263LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863016C>A | CA356138848 | MSX1 | c.785C>A (p.Ala262Asp) n.497C>A | |
| 4 | g.4863016C= | CA1435013747 | MSX1 | c.785C= (p.Ala262=) n.497C= | |
| 4 | g.4863016C>G | CA356138850 | MSX1 | c.785C>G (p.Ala262Gly) n.497C>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863016C>T | CA356138849 | MSX1 | c.785C>T (p.Ala262Val) n.497C>T | dbSNP gnomAD v4 |
| 4 | g.4863017T>A | CA438366341 | MSX1 | c.786T>A (p.Ala262=) n.498T>A | |
| 4 | g.4863017T>C | CA438366343 | MSX1 | c.786T>C (p.Ala262=) n.498T>C | |
| 4 | g.4863017T>G | CA438366342 | MSX1 | c.786T>G (p.Ala262=) n.498T>G | |
| 4 | g.4863017_4863020dup | CA2669788571 | MSX1 | c.786_789dup (p.Ala264CysfsTer?) n.498_501dup | gnomAD v4 |
| 4 | g.4863018G>A | CA2833117 | MSX1 | c.787G>A (p.Val263Ile) n.499G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4863018G>C | CA356138851 | MSX1 | c.787G>C (p.Val263Leu) n.499G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863018G= | CA1435013748 | MSX1 | c.787G= (p.Val263=) n.499G= | |
| 4 | g.4863018G>T | CA356138852 | MSX1 | c.787G>T (p.Val263Leu) n.499G>T | |
| 4 | g.4863019T>A | CA356138853 | MSX1 | c.788T>A (p.Val263Glu) n.500T>A | |
| 4 | g.4863019T>C | CA356138854 | MSX1 | c.788T>C (p.Val263Ala) n.500T>C | gnomAD v4 |
| 4 | g.4863019T>G | CA356138855 | MSX1 | c.788T>G (p.Val263Gly) n.500T>G | |
| 4 | g.4863020A>C | CA438366346 | MSX1 | c.789A>C (p.Val263=) n.501A>C | |
| 4 | g.4863020A>G | CA438366347 | MSX1 | c.789A>G (p.Val263=) n.501A>G | |
| 4 | g.4863020A>T | CA438366350 | MSX1 | c.789A>T (p.Val263=) n.501A>T | |
| 4 | g.4863021G>A | CA356138856 | MSX1 | c.790G>A (p.Ala264Thr) n.502G>A | |
| 4 | g.4863021G>C | CA356138857 | MSX1 | c.790G>C (p.Ala264Pro) n.502G>C | dbSNP |
| 4 | g.4863021G>T | CA356138858 | MSX1 | c.790G>T (p.Ala264Ser) n.502G>T | |
| 4 | g.4863022C>A | CA356138859 | MSX1 | c.791C>A (p.Ala264Glu) n.503C>A | gnomAD v4 |
| 4 | g.4863022C= | CA1435013749 | MSX1 | c.791C= (p.Ala264=) n.503C= | |
| 4 | g.4863022C>G | CA356138860 | MSX1 | c.791C>G (p.Ala264Gly) n.503C>G | |
| 4 | g.4863022C>T | CA356138861 | MSX1 | c.791C>T (p.Ala264Val) n.503C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863023G>A | CA438366358 | MSX1 | c.792G>A (p.Ala264=) n.504G>A | |
| 4 | g.4863023G>C | CA438366359 | MSX1 | c.792G>C (p.Ala264=) n.504G>C | |
| 4 | g.4863023G>T | CA438366360 | MSX1 | c.792G>T (p.Ala264=) n.504G>T | |
| 4 | g.4863024G>A | CA356138864 | MSX1 | c.793G>A (p.Ala265Thr) n.505G>A | |
| 4 | g.4863024G>C | CA356138862 | MSX1 | c.793G>C (p.Ala265Pro) n.505G>C | |
| 4 | g.4863024G>T | CA356138863 | MSX1 | c.793G>T (p.Ala265Ser) n.505G>T | |
| 4 | g.4863025C>A | CA356138865 | MSX1 | c.794C>A (p.Ala265Asp) n.506C>A | |
| 4 | g.4863025C>G | CA356138866 | MSX1 | c.794C>G (p.Ala265Gly) n.506C>G | |
| 4 | g.4863025C>T | CA356138867 | MSX1 | c.794C>T (p.Ala265Val) n.506C>T | |
| 4 | g.4863026C>A | CA438366365 | MSX1 | c.795C>A (p.Ala265=) n.507C>A | gnomAD v4 |
| 4 | g.4863026C= | CA1435013750 | MSX1 | c.795C= (p.Ala265=) n.507C= | |
| 4 | g.4863026C>G | CA438366366 | MSX1 | c.795C>G (p.Ala265=) n.507C>G | |
| 4 | g.4863026C>T | CA438366367 | MSX1 | c.795C>T (p.Ala265=) n.507C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863027G>A | CA2833119 | MSX1 | c.796G>A (p.Ala266Thr) n.508G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863027G>C | CA356138868 | MSX1 | c.796G>C (p.Ala266Pro) n.508G>C | |
| 4 | g.4863027G= | CA1435013751 | MSX1 | c.796G= (p.Ala266=) n.508G= | |
| 4 | g.4863027G>T | CA2833118 | MSX1 | c.796G>T (p.Ala266Ser) n.508G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863028C>A | CA2833121 | MSX1 | c.797C>A (p.Ala266Glu) n.509C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863028C= | CA1435013752 | MSX1 | c.797C= (p.Ala266=) n.509C= | |
| 4 | g.4863028C>G | CA356138869 | MSX1 | c.797C>G (p.Ala266Gly) n.509C>G | |
| 4 | g.4863028C>T | CA2833120 | MSX1 | c.797C>T (p.Ala266Val) n.509C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.4863029G>A | CA2833122 | MSX1 | c.798G>A (p.Ala266=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4863029G>C | CA438366373 | MSX1 | c.798G>C (p.Ala266=) | |
| 4 | g.4863029G= | CA1435013753 | MSX1 | c.798G= (p.Ala266=) | |
| 4 | g.4863029G>T | CA438366374 | MSX1 | c.798G>T (p.Ala266=) | |
| 4 | g.4863030G>A | CA356138872 | MSX1 | c.799G>A (p.Ala267Thr) | gnomAD v4 |
| 4 | g.4863030G>C | CA356138871 | MSX1 | c.799G>C (p.Ala267Pro) | gnomAD v4 |
| 4 | g.4863030G>T | CA356138870 | MSX1 | c.799G>T (p.Ala267Ser) | dbSNP |
| 4 | g.4863031C>A | CA356138873 | MSX1 | c.800C>A (p.Ala267Glu) | gnomAD v4 |
| 4 | g.4863031C= | CA1435013754 | MSX1 | c.800C= (p.Ala267=) | |
| 4 | g.4863031C>G | CA356138874 | MSX1 | c.800C>G (p.Ala267Gly) | |
| 4 | g.4863031C>T | CA2833123 | MSX1 | c.800C>T (p.Ala267Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863032G>A | CA2833124 | MSX1 | c.801G>A (p.Ala267=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863032G>C | CA438366379 | MSX1 | c.801G>C (p.Ala267=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863032G= | CA1435013755 | MSX1 | c.801G= (p.Ala267=) | |
| 4 | g.4863032G>T | CA438366380 | MSX1 | c.801G>T (p.Ala267=) | gnomAD v4 |
| 4 | g.4863033G>A | CA356138876 | MSX1 | c.802G>A (p.Gly268Ser) | dbSNP gnomAD v4 COSMIC |
| 4 | g.4863033G>C | CA356138879 | MSX1 | c.802G>C (p.Gly268Arg) | |
| 4 | g.4863033G= | CA1435013756 | MSX1 | c.802G= (p.Gly268=) | |
| 4 | g.4863033G>T | CA356138881 | MSX1 | c.802G>T (p.Gly268Cys) | |
| 4 | g.4863041_4863055dup | CA2669788572 | MSX1 | c.810_824dup (p.Ser275_Gly276insLeuTyrGlyAlaSer) | gnomAD v4 |
| 4 | g.4863034G>A | CA356138884 | MSX1 | c.803G>A (p.Gly268Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863034G>C | CA356138887 | MSX1 | c.803G>C (p.Gly268Ala) | gnomAD v4 |
| 4 | g.4863034G= | CA1435013757 | MSX1 | c.803G= (p.Gly268=) | |
| 4 | g.4863034G>T | CA356138885 | MSX1 | c.803G>T (p.Gly268Val) | |
| 4 | g.4863035T>A | CA438366382 | MSX1 | c.804T>A (p.Gly268=) | |
| 4 | g.4863035T>C | CA438366384 | MSX1 | c.804T>C (p.Gly268=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863035T>G | CA2833125 | MSX1 | c.804T>G (p.Gly268=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4863035T= | CA1435013758 | MSX1 | c.804T= (p.Gly268=) | |
| 4 | g.4863036G>A | CA2833126 | MSX1 | c.805G>A (p.Ala269Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863036G>C | CA356138893 | MSX1 | c.805G>C (p.Ala269Pro) | |
| 4 | g.4863036G= | CA1435013759 | MSX1 | c.805G= (p.Ala269=) | |
| 4 | g.4863036G>T | CA356138895 | MSX1 | c.805G>T (p.Ala269Ser) | |
| 4 | g.4863037C>A | CA356138897 | MSX1 | c.806C>A (p.Ala269Asp) | |
| 4 | g.4863037C>G | CA356138900 | MSX1 | c.806C>G (p.Ala269Gly) | |
| 4 | g.4863037C>T | CA356138898 | MSX1 | c.806C>T (p.Ala269Val) | gnomAD v4 |
| 4 | g.4863038C>A | CA438366386 | MSX1 | c.807C>A (p.Ala269=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863038C= | CA1435013760 | MSX1 | c.807C= (p.Ala269=) | |
| 4 | g.4863038C>G | CA438366388 | MSX1 | c.807C>G (p.Ala269=) | |
| 4 | g.4863038C>T | CA438366387 | MSX1 | c.807C>T (p.Ala269=) | gnomAD v4 |
| 4 | g.4863039T>A | CA2833127 | MSX1 | c.808T>A (p.Ser270Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863039T>C | CA356138902 | MSX1 | c.808T>C (p.Ser270Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863039T>G | CA356138904 | MSX1 | c.808T>G (p.Ser270Ala) | |
| 4 | g.4863039T= | CA1435013761 | MSX1 | c.808T= (p.Ser270=) | |
| 4 | g.4863040C>A | CA356138907 | MSX1 | c.809C>A (p.Ser270Ter) | |
| 4 | g.4863040C= | CA1435013762 | MSX1 | c.809C= (p.Ser270=) | |
| 4 | g.4863040C>G | CA356138909 | MSX1 | c.809C>G (p.Ser270Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863040C>T | CA356138911 | MSX1 | c.809C>T (p.Ser270Leu) | gnomAD v4 COSMIC |
| 4 | g.4863041G>A | CA438366391 | MSX1 | c.810G>A (p.Ser270=) | |
| 4 | g.4863041G>C | CA2833128 | MSX1 | c.810G>C (p.Ser270=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863041G= | CA1435013763 | MSX1 | c.810G= (p.Ser270=) | |
| 4 | g.4863041G>T | CA438366394 | MSX1 | c.810G>T (p.Ser270=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863042C>A | CA356138915 | MSX1 | c.811C>A (p.Leu271Ile) | |
| 4 | g.4863042C= | CA1435013764 | MSX1 | c.811C= (p.Leu271=) | |
| 4 | g.4863042C>G | CA356138916 | MSX1 | c.811C>G (p.Leu271Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863042C>T | CA356138918 | MSX1 | c.811C>T (p.Leu271Phe) | |
| 4 | g.4863043T>A | CA356138924 | MSX1 | c.812T>A (p.Leu271His) | |
| 4 | g.4863043T>C | CA356138922 | MSX1 | c.812T>C (p.Leu271Pro) | |
| 4 | g.4863043T>G | CA356138921 | MSX1 | c.812T>G (p.Leu271Arg) | |
| 4 | g.4863044C>A | CA438366397 | MSX1 | c.813C>A (p.Leu271=) | |
| 4 | g.4863044C>G | CA438366398 | MSX1 | c.813C>G (p.Leu271=) | |
| 4 | g.4863044C>T | CA438366399 | MSX1 | c.813C>T (p.Leu271=) | gnomAD v4 |
| 4 | g.4863045T>A | CA356138927 | MSX1 | c.814T>A (p.Tyr272Asn) | |
| 4 | g.4863045T>C | CA356138931 | MSX1 | c.814T>C (p.Tyr272His) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863045T>G | CA356138929 | MSX1 | c.814T>G (p.Tyr272Asp) | |
| 4 | g.4863045T= | CA1435013765 | MSX1 | c.814T= (p.Tyr272=) | |
| 4 | g.4863046A= | CA1435013766 | MSX1 | c.815A= (p.Tyr272=) | |
| 4 | g.4863046A>C | CA356138934 | MSX1 | c.815A>C (p.Tyr272Ser) | |
| 4 | g.4863046A>G | CA356138937 | MSX1 | c.815A>G (p.Tyr272Cys) | dbSNP |
| 4 | g.4863046A>T | CA356138935 | MSX1 | c.815A>T (p.Tyr272Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863047C>A | CA356138940 | MSX1 | c.816C>A (p.Tyr272Ter) | COSMIC |
| 4 | g.4863047C= | CA1435013767 | MSX1 | c.816C= (p.Tyr272=) | |
| 4 | g.4863047C>G | CA356138943 | MSX1 | c.816C>G (p.Tyr272Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863047C>T | CA91672304 | MSX1 | c.816C>T (p.Tyr272=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863049_4863070dup | CA2669788573 | MSX1 | c.818_839dup (p.Ala281CysfsTer?) | gnomAD v4 |
| 4 | g.4863048G>A | CA2833129 | MSX1 | c.817G>A (p.Gly273Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863048G>C | CA356138948 | MSX1 | c.817G>C (p.Gly273Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863048G= | CA1435013768 | MSX1 | c.817G= (p.Gly273=) | |
| 4 | g.4863048G>T | CA2833130 | MSX1 | c.817G>T (p.Gly273Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863049G>A | CA356138956 | MSX1 | c.818G>A (p.Gly273Asp) | |
| 4 | g.4863049G>C | CA356138954 | MSX1 | c.818G>C (p.Gly273Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863049G= | CA1435013769 | MSX1 | c.818G= (p.Gly273=) | |
| 4 | g.4863049G>T | CA356138953 | MSX1 | c.818G>T (p.Gly273Val) | |
| 4 | g.4863050T>A | CA438366407 | MSX1 | c.819T>A (p.Gly273=) | |
| 4 | g.4863050T>C | CA438366409 | MSX1 | c.819T>C (p.Gly273=) | |
| 4 | g.4863050T>G | CA438366408 | MSX1 | c.819T>G (p.Gly273=) | |
| 4 | g.4863051G>A | CA2833131 | MSX1 | c.820G>A (p.Ala274Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863051G>C | CA356138959 | MSX1 | c.820G>C (p.Ala274Pro) | |
| 4 | g.4863051G= | CA1435013770 | MSX1 | c.820G= (p.Ala274=) | |
| 4 | g.4863051G>T | CA2833132 | MSX1 | c.820G>T (p.Ala274Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.4863052C>A | CA356138964 | MSX1 | c.821C>A (p.Ala274Asp) | |
| 4 | g.4863052C= | CA1435013771 | MSX1 | c.821C= (p.Ala274=) | |
| 4 | g.4863052C>G | CA356138966 | MSX1 | c.821C>G (p.Ala274Gly) | |
| 4 | g.4863052C>T | CA2833133 | MSX1 | c.821C>T (p.Ala274Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863053C>A | CA438366414 | MSX1 | c.822C>A (p.Ala274=) | |
| 4 | g.4863053C>G | CA438366415 | MSX1 | c.822C>G (p.Ala274=) | gnomAD v4 |
| 4 | g.4863053C>T | CA438366416 | MSX1 | c.822C>T (p.Ala274=) | gnomAD v4 |
| 4 | g.4863054T>A | CA356138972 | MSX1 | c.823T>A (p.Ser275Thr) | |
| 4 | g.4863054T>C | CA356138969 | MSX1 | c.823T>C (p.Ser275Pro) | |
| 4 | g.4863054T>G | CA356138971 | MSX1 | c.823T>G (p.Ser275Ala) | |
| 4 | g.4863055C>A | CA356138974 | MSX1 | c.824C>A (p.Ser275Tyr) | |
| 4 | g.4863055C>G | CA356138976 | MSX1 | c.824C>G (p.Ser275Cys) | COSMIC |
| 4 | g.4863055C>T | CA356138977 | MSX1 | c.824C>T (p.Ser275Phe) | |
| 4 | g.4863056T>A | CA438366417 | MSX1 | c.825T>A (p.Ser275=) | COSMIC |
| 4 | g.4863056T>C | CA438366418 | MSX1 | c.825T>C (p.Ser275=) | |
| 4 | g.4863056T>G | CA438366419 | MSX1 | c.825T>G (p.Ser275=) | |
| 4 | g.4863057G>A | CA356138980 | MSX1 | c.826G>A (p.Gly276Ser) | gnomAD v4 |
| 4 | g.4863057G>C | CA356138981 | MSX1 | c.826G>C (p.Gly276Arg) | |
| 4 | g.4863057G= | CA1435013772 | MSX1 | c.826G= (p.Gly276=) | |
| 4 | g.4863057G>T | CA356138983 | MSX1 | c.826G>T (p.Gly276Cys) | dbSNP |
| 4 | g.4863058G>A | CA356138986 | MSX1 | c.827G>A (p.Gly276Asp) | |
| 4 | g.4863058G>C | CA356138988 | MSX1 | c.827G>C (p.Gly276Ala) | |
| 4 | g.4863058G>T | CA356138990 | MSX1 | c.827G>T (p.Gly276Val) | gnomAD v4 |
| 4 | g.4863059C>A | CA438366426 | MSX1 | c.828C>A (p.Gly276=) | gnomAD v4 |
| 4 | g.4863059C= | CA1435013773 | MSX1 | c.828C= (p.Gly276=) | |
| 4 | g.4863059C>G | CA438366427 | MSX1 | c.828C>G (p.Gly276=) | gnomAD v4 |
| 4 | g.4863059C>T | CA2833134 | MSX1 | c.828C>T (p.Gly276=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863060C>A | CA356138994 | MSX1 | c.829C>A (p.Pro277Thr) | |
| 4 | g.4863060C>G | CA356138996 | MSX1 | c.829C>G (p.Pro277Ala) | |
| 4 | g.4863060C>T | CA356138998 | MSX1 | c.829C>T (p.Pro277Ser) | gnomAD v4 COSMIC |
| 4 | g.4863061C>A | CA2833135 | MSX1 | c.830C>A (p.Pro277His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863061C= | CA1435013774 | MSX1 | c.830C= (p.Pro277=) | |
| 4 | g.4863061C>G | CA356139000 | MSX1 | c.830C>G (p.Pro277Arg) | |
| 4 | g.4863061C>T | CA356139002 | MSX1 | c.830C>T (p.Pro277Leu) | gnomAD v4 COSMIC |
| 4 | g.4863062C>A | CA438366429 | MSX1 | c.831C>A (p.Pro277=) | |
| 4 | g.4863062C= | CA1435013775 | MSX1 | c.831C= (p.Pro277=) | |
| 4 | g.4863062C>G | CA91672329 | MSX1 | c.831C>G (p.Pro277=) | dbSNP |
| 4 | g.4863062C>T | CA438366430 | MSX1 | c.831C>T (p.Pro277=) | |
| 4 | g.4863063T>A | CA356139005 | MSX1 | c.832T>A (p.Phe278Ile) | |
| 4 | g.4863063T>C | CA356139009 | MSX1 | c.832T>C (p.Phe278Leu) | |
| 4 | g.4863063T>G | CA356139006 | MSX1 | c.832T>G (p.Phe278Val) | |
| 4 | g.4863064T>A | CA356139012 | MSX1 | c.833T>A (p.Phe278Tyr) | |
| 4 | g.4863064T>C | CA356139013 | MSX1 | c.833T>C (p.Phe278Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863064T>G | CA356139015 | MSX1 | c.833T>G (p.Phe278Cys) | |
| 4 | g.4863064T= | CA1435013776 | MSX1 | c.833T= (p.Phe278=) | |
| 4 | g.4863065C>A | CA356139018 | MSX1 | c.834C>A (p.Phe278Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863065C= | CA1435013777 | MSX1 | c.834C= (p.Phe278=) | |
| 4 | g.4863065C>G | CA356139020 | MSX1 | c.834C>G (p.Phe278Leu) | |
| 4 | g.4863065C>T | CA2833136 | MSX1 | c.834C>T (p.Phe278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863066C>A | CA356139023 | MSX1 | c.835C>A (p.Gln279Lys) | |
| 4 | g.4863066C>G | CA356139026 | MSX1 | c.835C>G (p.Gln279Glu) | |
| 4 | g.4863066C>T | CA356139031 | MSX1 | c.835C>T (p.Gln279Ter) | |
| 4 | g.4863067A= | CA1435013778 | MSX1 | c.836A= (p.Gln279=) | |
| 4 | g.4863067A>C | CA356139033 | MSX1 | c.836A>C (p.Gln279Pro) | dbSNP |
| 4 | g.4863067A>G | CA356139035 | MSX1 | c.836A>G (p.Gln279Arg) | |
| 4 | g.4863067A>T | CA356139038 | MSX1 | c.836A>T (p.Gln279Leu) | |
| 4 | g.4863068G>A | CA438366431 | MSX1 | c.837G>A (p.Gln279=) | gnomAD v4 |
| 4 | g.4863068G>C | CA356139041 | MSX1 | c.837G>C (p.Gln279His) | |
| 4 | g.4863068G>T | CA356139042 | MSX1 | c.837G>T (p.Gln279His) | |
| 4 | g.4863069C>A | CA356139045 | MSX1 | c.838C>A (p.Arg280Ser) | gnomAD v4 |
| 4 | g.4863069C= | CA1435013779 | MSX1 | c.838C= (p.Arg280=) | |
| 4 | g.4863069C>G | CA356139047 | MSX1 | c.838C>G (p.Arg280Gly) | |
| 4 | g.4863069C>T | CA356139049 | MSX1 | c.838C>T (p.Arg280Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863070G>A | CA356139051 | MSX1 | c.839G>A (p.Arg280His) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863070G>C | CA356139053 | MSX1 | c.839G>C (p.Arg280Pro) | |
| 4 | g.4863070G= | CA1435013780 | MSX1 | c.839G= (p.Arg280=) | |
| 4 | g.4863070G>T | CA356139055 | MSX1 | c.839G>T (p.Arg280Leu) | |
| 4 | g.4863071C>A | CA438366434 | MSX1 | c.840C>A (p.Arg280=) | |
| 4 | g.4863071C= | CA1435013781 | MSX1 | c.840C= (p.Arg280=) | |
| 4 | g.4863071C>G | CA438366433 | MSX1 | c.840C>G (p.Arg280=) | |
| 4 | g.4863071C>T | CA438366432 | MSX1 | c.840C>T (p.Arg280=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863072G>A | CA356139058 | MSX1 | c.841G>A (p.Ala281Thr) | dbSNP gnomAD v4 COSMIC |
| 4 | g.4863072G>C | CA356139060 | MSX1 | c.841G>C (p.Ala281Pro) | |
| 4 | g.4863072G= | CA1435013782 | MSX1 | c.841G= (p.Ala281=) | |
| 4 | g.4863072G>T | CA356139062 | MSX1 | c.841G>T (p.Ala281Ser) | |
| 4 | g.4863073C>A | CA356139065 | MSX1 | c.842C>A (p.Ala281Asp) | gnomAD v4 |
| 4 | g.4863073C>G | CA356139066 | MSX1 | c.842C>G (p.Ala281Gly) | |
| 4 | g.4863073C>T | CA356139068 | MSX1 | c.842C>T (p.Ala281Val) | gnomAD v4 |
| 4 | g.4863074C>A | CA2833139 | MSX1 | c.843C>A (p.Ala281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863074C= | CA1435013783 | MSX1 | c.843C= (p.Ala281=) | |
| 4 | g.4863074C>G | CA2833137 | MSX1 | c.843C>G (p.Ala281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863074C>T | CA2833138 | MSX1 | c.843C>T (p.Ala281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863075del | CA2586973679 | MSX1 | c.844del (p.Ala282ArgfsTer21) | |
| 4 | g.4863075G>A | CA356139077 | MSX1 | c.844G>A (p.Ala282Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.4863075G>C | CA356139082 | MSX1 | c.844G>C (p.Ala282Pro) | |
| 4 | g.4863075G= | CA1435013784 | MSX1 | c.844G= (p.Ala282=) | |
| 4 | g.4863075G>T | CA356139084 | MSX1 | c.844G>T (p.Ala282Ser) | |
| 4 | g.4863076C>A | CA356139086 | MSX1 | c.845C>A (p.Ala282Glu) | |
| 4 | g.4863076C>G | CA356139088 | MSX1 | c.845C>G (p.Ala282Gly) | gnomAD v4 |
| 4 | g.4863076C>T | CA356139090 | MSX1 | c.845C>T (p.Ala282Val) | gnomAD v4 |
| 4 | g.4863077_4863082del | CA2578031955 | MSX1 | c.846_851del (p.Leu283_Pro284del) | |
| 4 | g.4863077G>A | CA2833140 | MSX1 | c.846G>A (p.Ala282=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863077G>C | CA91672365 | MSX1 | c.846G>C (p.Ala282=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863077G= | CA1435013785 | MSX1 | c.846G= (p.Ala282=) | |
| 4 | g.4863077G>T | CA438366435 | MSX1 | c.846G>T (p.Ala282=) | |
| 4 | g.4863078C>A | CA356139095 | MSX1 | c.847C>A (p.Leu283Met) | |
| 4 | g.4863078C= | CA1435013786 | MSX1 | c.847C= (p.Leu283=) | |
| 4 | g.4863078C>G | CA356139094 | MSX1 | c.847C>G (p.Leu283Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863078C>T | CA438366436 | MSX1 | c.847C>T (p.Leu283=) | |
| 4 | g.4863079T>A | CA356139098 | MSX1 | c.848T>A (p.Leu283Gln) | |
| 4 | g.4863079T>C | CA356139099 | MSX1 | c.848T>C (p.Leu283Pro) | |
| 4 | g.4863079T>G | CA356139101 | MSX1 | c.848T>G (p.Leu283Arg) | |
| 4 | g.4863080G>A | CA438366437 | MSX1 | c.849G>A (p.Leu283=) | |
| 4 | g.4863080G>C | CA438366438 | MSX1 | c.849G>C (p.Leu283=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863080G= | CA1435013787 | MSX1 | c.849G= (p.Leu283=) | |
| 4 | g.4863080G>T | CA438366439 | MSX1 | c.849G>T (p.Leu283=) | gnomAD v4 |
| 4 | g.4863081C>A | CA356139103 | MSX1 | c.850C>A (p.Pro284Thr) | |
| 4 | g.4863081C= | CA1435013788 | MSX1 | c.850C= (p.Pro284=) | |
| 4 | g.4863081C>G | CA356139105 | MSX1 | c.850C>G (p.Pro284Ala) | |
| 4 | g.4863081C>T | CA2833141 | MSX1 | c.850C>T (p.Pro284Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863082C>A | CA356139109 | MSX1 | c.851C>A (p.Pro284His) | gnomAD v4 |
| 4 | g.4863082C>G | CA356139113 | MSX1 | c.851C>G (p.Pro284Arg) | |
| 4 | g.4863082C>T | CA356139111 | MSX1 | c.851C>T (p.Pro284Leu) | |
| 4 | g.4863083T>A | CA438366440 | MSX1 | c.852T>A (p.Pro284=) | |
| 4 | g.4863083T>C | CA438366441 | MSX1 | c.852T>C (p.Pro284=) | gnomAD v4 |
| 4 | g.4863083T>G | CA438366442 | MSX1 | c.852T>G (p.Pro284=) | |
| 4 | g.4863084G>A | CA356139115 | MSX1 | c.853G>A (p.Val285Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863084G>C | CA356139117 | MSX1 | c.853G>C (p.Val285Leu) | |
| 4 | g.4863084G= | CA1435013789 | MSX1 | c.853G= (p.Val285=) | |
| 4 | g.4863084G>T | CA356139119 | MSX1 | c.853G>T (p.Val285Leu) | dbSNP gnomAD v2 |
| 4 | g.4863085T>A | CA356139121 | MSX1 | c.854T>A (p.Val285Glu) | |
| 4 | g.4863085T>C | CA356139123 | MSX1 | c.854T>C (p.Val285Ala) | |
| 4 | g.4863085T>G | CA356139124 | MSX1 | c.854T>G (p.Val285Gly) | |
| 4 | g.4863086G>A | CA438366443 | MSX1 | c.855G>A (p.Val285=) | |
| 4 | g.4863086G>C | CA438366444 | MSX1 | c.855G>C (p.Val285=) | |
| 4 | g.4863086G>T | CA438366445 | MSX1 | c.855G>T (p.Val285=) | |
| 4 | g.4863087G>A | CA356139125 | MSX1 | c.856G>A (p.Ala286Thr) | |
| 4 | g.4863087G>C | CA356139128 | MSX1 | c.856G>C (p.Ala286Pro) | |
| 4 | g.4863087G>T | CA356139129 | MSX1 | c.856G>T (p.Ala286Ser) | |
| 4 | g.4863089_4863090del | CA2669788574 | MSX1 | c.858_859del (p.Pro287ArgfsTer?) | gnomAD v4 |
| 4 | g.4863088C>A | CA356139132 | MSX1 | c.857C>A (p.Ala286Glu) | gnomAD v4 |
| 4 | g.4863088C= | CA1435013790 | MSX1 | c.857C= (p.Ala286=) | |
| 4 | g.4863088C>G | CA356139133 | MSX1 | c.857C>G (p.Ala286Gly) | |
| 4 | g.4863088C>T | CA356139135 | MSX1 | c.857C>T (p.Ala286Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863089G>A | CA438366446 | MSX1 | c.858G>A (p.Ala286=) | dbSNP gnomAD v4 |
| 4 | g.4863089G>C | CA438366447 | MSX1 | c.858G>C (p.Ala286=) | |
| 4 | g.4863089G= | CA1435013791 | MSX1 | c.858G= (p.Ala286=) | |
| 4 | g.4863089G>T | CA91672408 | MSX1 | c.858G>T (p.Ala286=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863090C>A | CA356139136 | MSX1 | c.859C>A (p.Pro287Thr) | dbSNP gnomAD v2 |
| 4 | g.4863090C= | CA1435013792 | MSX1 | c.859C= (p.Pro287=) | |
| 4 | g.4863090C>G | CA356139143 | MSX1 | c.859C>G (p.Pro287Ala) | gnomAD v4 |
| 4 | g.4863090C>T | CA356139142 | MSX1 | c.859C>T (p.Pro287Ser) | |
| 4 | g.4863091C>A | CA356139146 | MSX1 | c.860C>A (p.Pro287His) | |
| 4 | g.4863091C>G | CA356139147 | MSX1 | c.860C>G (p.Pro287Arg) | |
| 4 | g.4863091C>T | CA356139149 | MSX1 | c.860C>T (p.Pro287Leu) | gnomAD v4 |
| 4 | g.4863092C>A | CA438366448 | MSX1 | c.861C>A (p.Pro287=) | gnomAD v4 |
| 4 | g.4863092C= | CA1435013793 | MSX1 | c.861C= (p.Pro287=) | |
| 4 | g.4863092C>G | CA2833143 | MSX1 | c.861C>G (p.Pro287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863092C>T | CA2833142 | MSX1 | c.861C>T (p.Pro287=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4863093G>A | CA356139153 | MSX1 | c.862G>A (p.Val288Met) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863093G>C | CA356139154 | MSX1 | c.862G>C (p.Val288Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863093G= | CA1435013794 | MSX1 | c.862G= (p.Val288=) | |
| 4 | g.4863093G>T | CA356139155 | MSX1 | c.862G>T (p.Val288Leu) | |
| 4 | g.4863094T>A | CA356139156 | MSX1 | c.863T>A (p.Val288Glu) | dbSNP |
| 4 | g.4863094T>C | CA356139157 | MSX1 | c.863T>C (p.Val288Ala) | |
| 4 | g.4863094T>G | CA356139158 | MSX1 | c.863T>G (p.Val288Gly) | |
| 4 | g.4863094T= | CA1435013795 | MSX1 | c.863T= (p.Val288=) | |
| 4 | g.4863095G>A | CA438366451 | MSX1 | c.864G>A (p.Val288=) | |
| 4 | g.4863095G>C | CA438366450 | MSX1 | c.864G>C (p.Val288=) | |
| 4 | g.4863095G= | CA1435013796 | MSX1 | c.864G= (p.Val288=) | |
| 4 | g.4863095G>T | CA438366449 | MSX1 | c.864G>T (p.Val288=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863096G>A | CA356139161 | MSX1 | c.865G>A (p.Gly289Arg) | |
| 4 | g.4863096G>C | CA356139160 | MSX1 | c.865G>C (p.Gly289Arg) | |
| 4 | g.4863096G>T | CA356139159 | MSX1 | c.865G>T (p.Gly289Ter) | |
| 4 | g.4863097G>A | CA356139162 | MSX1 | c.866G>A (p.Gly289Glu) | ClinVar dbSNP gnomAD v4 |
| 4 | g.4863097G>C | CA356139163 | MSX1 | c.866G>C (p.Gly289Ala) | |
| 4 | g.4863097G= | CA1435013797 | MSX1 | c.866G= (p.Gly289=) | |
| 4 | g.4863097G>T | CA356139164 | MSX1 | c.866G>T (p.Gly289Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4863098A= | CA1435013798 | MSX1 | c.867A= (p.Gly289=) | |
| 4 | g.4863098A>C | CA438195510 | MSX1 | c.867A>C (p.Gly289=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4863098A>G | CA438195512 | MSX1 | c.867A>G (p.Gly289=) | |
| 4 | g.4863098A>T | CA438195511 | MSX1 | c.867A>T (p.Gly289=) | |
| 4 | g.4863099C>A | CA356139165 | MSX1 | c.868C>A (p.Leu290Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863099C= | CA1435013799 | MSX1 | c.868C= (p.Leu290=) | |
| 4 | g.4863099C>G | CA356139166 | MSX1 | c.868C>G (p.Leu290Val) | gnomAD v4 |
| 4 | g.4863099C>T | CA356139167 | MSX1 | c.868C>T (p.Leu290Phe) | |
| 4 | g.4863100T>A | CA356139168 | MSX1 | c.869T>A (p.Leu290His) | |
| 4 | g.4863100T>C | CA356139169 | MSX1 | c.869T>C (p.Leu290Pro) | gnomAD v4 |
| 4 | g.4863100T>G | CA356139170 | MSX1 | c.869T>G (p.Leu290Arg) | |
| 4 | g.4863101C>A | CA438195513 | MSX1 | c.870C>A (p.Leu290=) | |
| 4 | g.4863101C= | CA1435013800 | MSX1 | c.870C= (p.Leu290=) | |
| 4 | g.4863101C>G | CA438195514 | MSX1 | c.870C>G (p.Leu290=) | |
| 4 | g.4863101C>T | CA438195515 | MSX1 | c.870C>T (p.Leu290=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863102T>A | CA356139171 | MSX1 | c.871T>A (p.Tyr291Asn) | |
| 4 | g.4863102T>C | CA356139172 | MSX1 | c.871T>C (p.Tyr291His) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4863102T>G | CA356139173 | MSX1 | c.871T>G (p.Tyr291Asp) | |
| 4 | g.4863102T= | CA1435013801 | MSX1 | c.871T= (p.Tyr291=) | |
| 4 | g.4863103A>C | CA356139174 | MSX1 | c.872A>C (p.Tyr291Ser) | |
| 4 | g.4863103A>G | CA356139176 | MSX1 | c.872A>G (p.Tyr291Cys) | |
| 4 | g.4863103A>T | CA356139175 | MSX1 | c.872A>T (p.Tyr291Phe) | |
| 4 | g.4863104C>A | CA356139177 | MSX1 | c.873C>A (p.Tyr291Ter) | |
| 4 | g.4863104C>G | CA356139178 | MSX1 | c.873C>G (p.Tyr291Ter) | |
| 4 | g.4863104C>T | CA438195516 | MSX1 | c.873C>T (p.Tyr291=) | gnomAD v4 |