Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.641037C>A | CA10330067 | SHOX | c.583C>A (p.Arg195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.641037C= | CA2411389851 | SHOX | c.583C= (p.Arg195=) | |
X | g.641037C>G | CA412231834 | SHOX | c.583C>G (p.Arg195Gly) | |
X | g.641037C>T | CA213424 | SHOX | c.583C>T (p.Arg195Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.641038G>A | CA10330068 | SHOX | c.584G>A (p.Arg195Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.641038G>C | CA412231835 | SHOX | c.584G>C (p.Arg195Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.641038G= | CA2411389852 | SHOX | c.584G= (p.Arg195=) | |
X | g.641038G>T | CA412231836 | SHOX | c.584G>T (p.Arg195Leu) | |
X | g.641039A= | CA2411389853 | SHOX | c.585A= (p.Arg195=) | |
X | g.641039A>C | CA515291117 | SHOX | c.585A>C (p.Arg195=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.641039A>G | CA515291112 | SHOX | c.585A>G (p.Arg195=) | gnomAD v4 |
X | g.641039A>T | CA515291114 | SHOX | c.585A>T (p.Arg195=) | |
X | g.641040G>A | CA412231837 | SHOX | c.586G>A (p.Val196Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.641040G>C | CA412231838 | SHOX | c.586G>C (p.Val196Leu) | |
X | g.641040G= | CA2411389854 | SHOX | c.586G= (p.Val196=) | |
X | g.641040G>T | CA412231839 | SHOX | c.586G>T (p.Val196Leu) | |
X | g.641041T>A | CA412231840 | SHOX | c.587T>A (p.Val196Glu) | dbSNP |
X | g.641041T>C | CA412231841 | SHOX | c.587T>C (p.Val196Ala) | |
X | g.641041T>G | CA412231842 | SHOX | c.587T>G (p.Val196Gly) | |
X | g.641042G>A | CA515291131 | SHOX | c.588G>A (p.Val196=) | |
X | g.641042G>C | CA515291136 | SHOX | c.588G>C (p.Val196=) | |
X | g.641042G>T | CA515291134 | SHOX | c.588G>T (p.Val196=) | |
X | g.641043G>A | CA412231845 | SHOX | c.589G>A (p.Ala197Thr) | gnomAD v4 |
X | g.641043G>C | CA412231844 | SHOX | c.589G>C (p.Ala197Pro) | |
X | g.641043G>T | CA412231843 | SHOX | c.589G>T (p.Ala197Ser) | gnomAD v4 |
X | g.641044C>A | CA412231846 | SHOX | c.590C>A (p.Ala197Glu) | gnomAD v4 |
X | g.641044C>G | CA412231847 | SHOX | c.590C>G (p.Ala197Gly) | |
X | g.641044C>T | CA412231848 | SHOX | c.590C>T (p.Ala197Val) | gnomAD v4 |
X | g.641045A>C | CA515291152 | SHOX | c.591A>C (p.Ala197=) | |
X | g.641045A>G | CA515291156 | SHOX | c.591A>G (p.Ala197=) | |
X | g.641045A>T | CA515291159 | SHOX | c.591A>T (p.Ala197=) | |
X | g.641046C>A | CA412231849 | SHOX | c.592C>A (p.Pro198Thr) | |
X | g.641046C= | CA2411389855 | SHOX | c.592C= (p.Pro198=) | |
X | g.641046C>G | CA412231850 | SHOX | c.592C>G (p.Pro198Ala) | |
X | g.641046C>T | CA412231851 | SHOX | c.592C>T (p.Pro198Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.641047C>A | CA412231852 | SHOX | c.593C>A (p.Pro198His) | |
X | g.641047C>G | CA412231853 | SHOX | c.593C>G (p.Pro198Arg) | |
X | g.641047C>T | CA412231854 | SHOX | c.593C>T (p.Pro198Leu) | |
X | g.641048C>A | CA515291172 | SHOX | c.594C>A (p.Pro198=) | |
X | g.641048C= | CA2411389856 | SHOX | c.594C= (p.Pro198=) | |
X | g.641048C>G | CA515291174 | SHOX | c.594C>G (p.Pro198=) | dbSNP |
X | g.641048C>T | CA10330069 | SHOX | c.594C>T (p.Pro198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.641049T>A | CA412231855 | SHOX | c.595T>A (p.Tyr199Asn) | |
X | g.641049T>C | CA412231856 | SHOX | c.595T>C (p.Tyr199His) | |
X | g.641049T>G | CA412231857 | SHOX | c.595T>G (p.Tyr199Asp) | |
X | g.641050A= | CA2411389857 | SHOX | c.596A= (p.Tyr199=) | |
X | g.641050A>C | CA412231860 | SHOX | c.596A>C (p.Tyr199Ser) | |
X | g.641050A>G | CA412231858 | SHOX | c.596A>G (p.Tyr199Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.641050A>T | CA412231859 | SHOX | c.596A>T (p.Tyr199Phe) | |
X | g.641051C>A | CA412231861 | SHOX | c.597C>A (p.Tyr199Ter) |