Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.4862966G>A | CA356138750 | MSX1 | c.735G>A (p.Met245Ile) n.447G>A | |
4 | g.4862966G>C | CA356138751 | MSX1 | c.735G>C (p.Met245Ile) n.447G>C | |
4 | g.4862966G>T | CA356138752 | MSX1 | c.735G>T (p.Met245Ile) n.447G>T | gnomAD v4 |
4 | g.4862972_4862981dup | CA2586973678 | MSX1 | c.741_750dup (p.Phe251ThrfsTer?) n.453_462dup | |
4 | g.4862972_4862981del | CA2573137595 | MSX1 | c.741_750del (p.Pro248SerfsTer13) n.453_462del | ClinVar dbSNP gnomAD v4 |
4 | g.4862967C>A | CA356138753 | MSX1 | c.736C>A (p.Leu246Met) n.448C>A | |
4 | g.4862967C= | CA1435013718 | MSX1 | c.736C= (p.Leu246=) n.448C= | |
4 | g.4862967C>G | CA356138754 | MSX1 | c.736C>G (p.Leu246Val) n.448C>G | |
4 | g.4862967C>T | CA438366251 | MSX1 | c.736C>T (p.Leu246=) n.448C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.4862968T>A | CA356138755 | MSX1 | c.737T>A (p.Leu246Gln) n.449T>A | |
4 | g.4862968T>C | CA356138756 | MSX1 | c.737T>C (p.Leu246Pro) n.449T>C | |
4 | g.4862968T>G | CA2833103 | MSX1 | c.737T>G (p.Leu246Arg) n.449T>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.4862968T= | CA1435013719 | MSX1 | c.737T= (p.Leu246=) n.449T= | |
4 | g.4862969G>A | CA2833105 | MSX1 | c.738G>A (p.Leu246=) n.450G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.4862969G>C | CA438366252 | MSX1 | c.738G>C (p.Leu246=) n.450G>C | |
4 | g.4862969G= | CA1435013720 | MSX1 | c.738G= (p.Leu246=) n.450G= | |
4 | g.4862969G>T | CA2833104 | MSX1 | c.738G>T (p.Leu246=) n.450G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.4862970C>A | CA356138757 | MSX1 | c.739C>A (p.Pro247Thr) n.451C>A | |
4 | g.4862970C= | CA1435013721 | MSX1 | c.739C= (p.Pro247=) n.451C= | |
4 | g.4862970C>G | CA356138758 | MSX1 | c.739C>G (p.Pro247Ala) n.451C>G | |
4 | g.4862970C>T | CA2833106 | MSX1 | c.739C>T (p.Pro247Ser) n.451C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.4862971C>A | CA356138760 | MSX1 | c.740C>A (p.Pro247Gln) n.452C>A | |
4 | g.4862971C>G | CA356138761 | MSX1 | c.740C>G (p.Pro247Arg) n.452C>G | |
4 | g.4862971C>T | CA356138759 | MSX1 | c.740C>T (p.Pro247Leu) n.452C>T | gnomAD v4 |
4 | g.4862972A>C | CA438366255 | MSX1 | c.741A>C (p.Pro247=) n.453A>C | |
4 | g.4862972A>G | CA438366257 | MSX1 | c.741A>G (p.Pro247=) n.453A>G | |
4 | g.4862972A>T | CA438366258 | MSX1 | c.741A>T (p.Pro247=) n.453A>T | |
4 | g.4862973C>A | CA356138762 | MSX1 | c.742C>A (p.Pro248Thr) n.454C>A | |
4 | g.4862973C>G | CA356138763 | MSX1 | c.742C>G (p.Pro248Ala) n.454C>G | |
4 | g.4862973C>T | CA356138764 | MSX1 | c.742C>T (p.Pro248Ser) n.454C>T | |
4 | g.4862974C>A | CA356138765 | MSX1 | c.743C>A (p.Pro248Gln) n.455C>A | |
4 | g.4862974C= | CA1435013722 | MSX1 | c.743C= (p.Pro248=) n.455C= | |
4 | g.4862974C>G | CA356138766 | MSX1 | c.743C>G (p.Pro248Arg) n.455C>G | ClinVar |
4 | g.4862974C>T | CA356138767 | MSX1 | c.743C>T (p.Pro248Leu) n.455C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.4862975G>A | CA438366263 | MSX1 | c.744G>A (p.Pro248=) n.456G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.4862975G>C | CA438366261 | MSX1 | c.744G>C (p.Pro248=) n.456G>C | gnomAD v4 |
4 | g.4862975G= | CA1435013723 | MSX1 | c.744G= (p.Pro248=) n.456G= | |
4 | g.4862975G>T | CA438366260 | MSX1 | c.744G>T (p.Pro248=) n.456G>T | |
4 | g.4862976G>A | CA356138768 | MSX1 | c.745G>A (p.Ala249Thr) n.457G>A | dbSNP gnomAD v4 |
4 | g.4862976G>C | CA356138769 | MSX1 | c.745G>C (p.Ala249Pro) n.457G>C | |
4 | g.4862976G= | CA1435013724 | MSX1 | c.745G= (p.Ala249=) n.457G= | |
4 | g.4862976G>T | CA356138770 | MSX1 | c.745G>T (p.Ala249Ser) n.457G>T | |
4 | g.4862977C>A | CA356138771 | MSX1 | c.746C>A (p.Ala249Asp) n.458C>A | |
4 | g.4862977C>G | CA356138772 | MSX1 | c.746C>G (p.Ala249Gly) n.458C>G | |
4 | g.4862977C>T | CA356138773 | MSX1 | c.746C>T (p.Ala249Val) n.458C>T | |
4 | g.4862978T>A | CA438366266 | MSX1 | c.747T>A (p.Ala249=) n.459T>A | gnomAD v4 |
4 | g.4862978T>C | CA438366267 | MSX1 | c.747T>C (p.Ala249=) n.459T>C | gnomAD v4 |
4 | g.4862978T>G | CA438366268 | MSX1 | c.747T>G (p.Ala249=) n.459T>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.4862978T= | CA1435013725 | MSX1 | c.747T= (p.Ala249=) n.459T= | |
4 | g.4862979G>A | CA356138775 | MSX1 | c.748G>A (p.Ala250Thr) n.460G>A | dbSNP gnomAD v2 |
4 | g.4862979G>C | CA356138776 | MSX1 | c.748G>C (p.Ala250Pro) n.460G>C | |
4 | g.4862979G= | CA1435013726 | MSX1 | c.748G= (p.Ala250=) n.460G= | |
4 | g.4862979G>T | CA356138774 | MSX1 | c.748G>T (p.Ala250Ser) n.460G>T | |
4 | g.4862980C>A | CA356138777 | MSX1 | c.749C>A (p.Ala250Asp) n.461C>A | |
4 | g.4862980C>G | CA356138778 | MSX1 | c.749C>G (p.Ala250Gly) n.461C>G | |
4 | g.4862980C>T | CA356138779 | MSX1 | c.749C>T (p.Ala250Val) n.461C>T | |
4 | g.4862981C>A | CA438366272 | MSX1 | c.750C>A (p.Ala250=) n.462C>A | |
4 | g.4862981C>G | CA438366273 | MSX1 | c.750C>G (p.Ala250=) n.462C>G | |
4 | g.4862981C>T | CA438366274 | MSX1 | c.750C>T (p.Ala250=) n.462C>T | gnomAD v4 |
4 | g.4862981_4862982dup | CA2578031953 | MSX1 | c.750_751dup (p.Phe251SerfsTer14) n.462_463dup | |
4 | g.4862982T>A | CA356138780 | MSX1 | c.751T>A (p.Phe251Ile) n.463T>A | |
4 | g.4862982T>C | CA356138781 | MSX1 | c.751T>C (p.Phe251Leu) n.463T>C | |
4 | g.4862982T>G | CA356138782 | MSX1 | c.751T>G (p.Phe251Val) n.463T>G | |
4 | g.4862983T>A | CA356138785 | MSX1 | c.752T>A (p.Phe251Tyr) n.464T>A | |
4 | g.4862983T>C | CA356138783 | MSX1 | c.752T>C (p.Phe251Ser) n.464T>C | |
4 | g.4862983T>G | CA356138784 | MSX1 | c.752T>G (p.Phe251Cys) n.464T>G | |
4 | g.4862983_4862984delinsAA | CA658657376 | MSX1 | c.752_753delinsAA (p.Phe251Ter) n.464_465delinsAA | ClinVar dbSNP |
4 | g.4862983_4862984delinsTC | CA1435013727 | MSX1 | c.752_753delinsTC (p.Phe251=) n.464_465delinsTC | |
4 | g.4862984C>A | CA356138786 | MSX1 | c.753C>A (p.Phe251Leu) n.465C>A | |
4 | g.4862984C>G | CA356138787 | MSX1 | c.753C>G (p.Phe251Leu) n.465C>G | |
4 | g.4862984C>T | CA438366278 | MSX1 | c.753C>T (p.Phe251=) n.465C>T | gnomAD v4 |
4 | g.4862985G>A | CA2833108 | MSX1 | c.754G>A (p.Gly252Ser) n.466G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.4862985G>C | CA356138788 | MSX1 | c.754G>C (p.Gly252Arg) n.466G>C | dbSNP gnomAD v4 |
4 | g.4862985G= | CA1435013728 | MSX1 | c.754G= (p.Gly252=) n.466G= | |
4 | g.4862985G>T | CA2833107 | MSX1 | c.754G>T (p.Gly252Cys) n.466G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.4862986G>A | CA356138791 | MSX1 | c.755G>A (p.Gly252Asp) n.467G>A | dbSNP gnomAD v4 |
4 | g.4862986G>C | CA356138790 | MSX1 | c.755G>C (p.Gly252Ala) n.467G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.4862986G= | CA1435013729 | MSX1 | c.755G= (p.Gly252=) n.467G= | |
4 | g.4862986G>T | CA356138789 | MSX1 | c.755G>T (p.Gly252Val) n.467G>T | gnomAD v4 |
4 | g.4862986_4862997dup | CA2578031954 | MSX1 | c.755_766dup (p.Phe255_Pro256insArgLeuSerPhe) n.467_478dup | |
4 | g.4862987C>A | CA438366285 | MSX1 | c.756C>A (p.Gly252=) n.468C>A | |
4 | g.4862987C>G | CA438366286 | MSX1 | c.756C>G (p.Gly252=) n.468C>G | |
4 | g.4862987C>T | CA438366287 | MSX1 | c.756C>T (p.Gly252=) n.468C>T | |
4 | g.4862988C>A | CA356138792 | MSX1 | c.757C>A (p.Leu253Ile) n.469C>A | |
4 | g.4862988C>G | CA356138793 | MSX1 | c.757C>G (p.Leu253Val) n.469C>G | |
4 | g.4862988C>T | CA356138794 | MSX1 | c.757C>T (p.Leu253Phe) n.469C>T | gnomAD v4 |
4 | g.4862991_4862992dup | CA2669788570 | MSX1 | c.760_761dup (p.Phe255ProfsTer10) n.472_473dup | gnomAD v4 |
4 | g.4862989T>A | CA356138795 | MSX1 | c.758T>A (p.Leu253His) n.470T>A | |
4 | g.4862989T>C | CA356138796 | MSX1 | c.758T>C (p.Leu253Pro) n.470T>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.4862989T>G | CA356138797 | MSX1 | c.758T>G (p.Leu253Arg) n.470T>G | |
4 | g.4862989T= | CA1435013730 | MSX1 | c.758T= (p.Leu253=) n.470T= | |
4 | g.4862990C>A | CA438366292 | MSX1 | c.759C>A (p.Leu253=) n.471C>A | |
4 | g.4862990C= | CA1435013731 | MSX1 | c.759C= (p.Leu253=) n.471C= | |
4 | g.4862990C>G | CA2833109 | MSX1 | c.759C>G (p.Leu253=) n.471C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.4862990C>T | CA438366291 | MSX1 | c.759C>T (p.Leu253=) n.471C>T | |
4 | g.4862991T>A | CA356138800 | MSX1 | c.760T>A (p.Ser254Thr) n.472T>A | |
4 | g.4862991T>C | CA356138798 | MSX1 | c.760T>C (p.Ser254Pro) n.472T>C | |
4 | g.4862991T>G | CA356138799 | MSX1 | c.760T>G (p.Ser254Ala) n.472T>G | |
4 | g.4862992C>A | CA356138801 | MSX1 | c.761C>A (p.Ser254Tyr) n.473C>A | |
4 | g.4862992C= | CA1435013732 | MSX1 | c.761C= (p.Ser254=) n.473C= | |
4 | g.4862992C>G | CA356138802 | MSX1 | c.761C>G (p.Ser254Cys) n.473C>G | dbSNP gnomAD v4 |
4 | g.4862992C>T | CA356138803 | MSX1 | c.761C>T (p.Ser254Phe) n.473C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.4862993C>A | CA438366296 | MSX1 | c.762C>A (p.Ser254=) n.474C>A | |
4 | g.4862993C>G | CA438366297 | MSX1 | c.762C>G (p.Ser254=) n.474C>G | |
4 | g.4862993C>T | CA438366298 | MSX1 | c.762C>T (p.Ser254=) n.474C>T | dbSNP |
4 | g.4862994T>A | CA356138804 | MSX1 | c.763T>A (p.Phe255Ile) n.475T>A | |
4 | g.4862994T>C | CA356138805 | MSX1 | c.763T>C (p.Phe255Leu) n.475T>C | |
4 | g.4862994T>G | CA356138806 | MSX1 | c.763T>G (p.Phe255Val) n.475T>G | |
4 | g.4862995T>A | CA356138807 | MSX1 | c.764T>A (p.Phe255Tyr) n.476T>A | |
4 | g.4862995T>C | CA356138809 | MSX1 | c.764T>C (p.Phe255Ser) n.476T>C | |
4 | g.4862995T>G | CA356138808 | MSX1 | c.764T>G (p.Phe255Cys) n.476T>G | gnomAD v4 |
4 | g.4862996C>A | CA356138810 | MSX1 | c.765C>A (p.Phe255Leu) n.477C>A | |
4 | g.4862996C= | CA1435013733 | MSX1 | c.765C= (p.Phe255=) n.477C= | |
4 | g.4862996C>G | CA356138811 | MSX1 | c.765C>G (p.Phe255Leu) n.477C>G | |
4 | g.4862996C>T | CA2833110 | MSX1 | c.765C>T (p.Phe255=) n.477C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.4862997C>A | CA356138812 | MSX1 | c.766C>A (p.Pro256Thr) n.478C>A | |
4 | g.4862997C= | CA1435013734 | MSX1 | c.766C= (p.Pro256=) n.478C= | |
4 | g.4862997C>G | CA356138813 | MSX1 | c.766C>G (p.Pro256Ala) n.478C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.4862997C>T | CA2833111 | MSX1 | c.766C>T (p.Pro256Ser) n.478C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.4862998C>A | CA356138814 | MSX1 | c.767C>A (p.Pro256His) n.479C>A | |
4 | g.4862998C= | CA1435013735 | MSX1 | c.767C= (p.Pro256=) n.479C= | |
4 | g.4862998C>G | CA356138815 | MSX1 | c.767C>G (p.Pro256Arg) n.479C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.4862998C>T | CA356138816 | MSX1 | c.767C>T (p.Pro256Leu) n.479C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.4862999T>A | CA438366305 | MSX1 | c.768T>A (p.Pro256=) n.480T>A | |
4 | g.4862999T>C | CA438366306 | MSX1 | c.768T>C (p.Pro256=) n.480T>C | |
4 | g.4862999T>G | CA438366307 | MSX1 | c.768T>G (p.Pro256=) n.480T>G | |
4 | g.4863000C>A | CA356138817 | MSX1 | c.769C>A (p.Leu257Ile) n.481C>A | |
4 | g.4863000C= | CA1435013736 | MSX1 | c.769C= (p.Leu257=) n.481C= | |
4 | g.4863000C>G | CA356138818 | MSX1 | c.769C>G (p.Leu257Val) n.481C>G | ClinVar |
4 | g.4863000C>T | CA356138819 | MSX1 | c.769C>T (p.Leu257Phe) n.481C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.4863001T>A | CA356138820 | MSX1 | c.770T>A (p.Leu257His) n.482T>A | |
4 | g.4863001T>C | CA356138822 | MSX1 | c.770T>C (p.Leu257Pro) n.482T>C | |
4 | g.4863001T>G | CA356138821 | MSX1 | c.770T>G (p.Leu257Arg) n.482T>G | |
4 | g.4863002C>A | CA2833112 | MSX1 | c.771C>A (p.Leu257=) n.483C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.4863002C= | CA1435013737 | MSX1 | c.771C= (p.Leu257=) n.483C= | |
4 | g.4863002C>G | CA438366315 | MSX1 | c.771C>G (p.Leu257=) n.483C>G | gnomAD v4 |
4 | g.4863002C>T | CA91672220 | MSX1 | c.771C>T (p.Leu257=) n.483C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.4863003G>A | CA356138823 | MSX1 | c.772G>A (p.Gly258Ser) n.484G>A | |
4 | g.4863003G>C | CA356138824 | MSX1 | c.772G>C (p.Gly258Arg) n.484G>C | gnomAD v4 |
4 | g.4863003G>T | CA356138825 | MSX1 | c.772G>T (p.Gly258Cys) n.484G>T | |
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) |