| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.634644G>A | CA412231202 | SHOX | c.304G>A (p.Glu102Lys) | |
| X | g.634644G>C | CA412231203 | SHOX | c.304G>C (p.Glu102Gln) | |
| X | g.634644G= | CA2411385684 | SHOX | c.304G= (p.Glu102=) | |
| X | g.634644G>T | CA254922 | SHOX | c.304G>T (p.Glu102Ter) | dbSNP |
| X | g.634645A>C | CA412231204 | SHOX | c.305A>C (p.Glu102Ala) | |
| X | g.634645A>G | CA412231205 | SHOX | c.305A>G (p.Glu102Gly) | gnomAD v4 |
| X | g.634645A>T | CA412231206 | SHOX | c.305A>T (p.Glu102Val) | |
| X | g.634646G>A | CA515393073 | SHOX | c.306G>A (p.Glu102=) | |
| X | g.634646G>C | CA412231207 | SHOX | c.306G>C (p.Glu102Asp) | gnomAD v4 |
| X | g.634646G>T | CA412231208 | SHOX | c.306G>T (p.Glu102Asp) | |
| X | g.634647G>A | CA412231209 | SHOX | c.307G>A (p.Asp103Asn) | COSMIC COSMIC |
| X | g.634647G>C | CA412231210 | SHOX | c.307G>C (p.Asp103His) | |
| X | g.634647G>T | CA412231211 | SHOX | c.307G>T (p.Asp103Tyr) | gnomAD v4 |
| X | g.634648A>C | CA412231213 | SHOX | c.308A>C (p.Asp103Ala) | |
| X | g.634648A>G | CA412231214 | SHOX | c.308A>G (p.Asp103Gly) | |
| X | g.634648A>T | CA412231212 | SHOX | c.308A>T (p.Asp103Val) | |
| X | g.634649C>A | CA412231215 | SHOX | c.309C>A (p.Asp103Glu) | |
| X | g.634649C= | CA2411385685 | SHOX | c.309C= (p.Asp103=) | |
| X | g.634649C>G | CA10329946 | SHOX | c.309C>G (p.Asp103Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634649C>T | CA515393077 | SHOX | c.309C>T (p.Asp103=) | dbSNP |
| X | g.634650G>A | CA412231216 | SHOX | c.310G>A (p.Val104Met) | dbSNP gnomAD v4 |
| X | g.634650G>C | CA412231217 | SHOX | c.310G>C (p.Val104Leu) | dbSNP gnomAD v4 |
| X | g.634650G= | CA2411385686 | SHOX | c.310G= (p.Val104=) | |
| X | g.634650G>T | CA412231218 | SHOX | c.310G>T (p.Val104Leu) | dbSNP gnomAD v4 |
| X | g.634651T>A | CA412231219 | SHOX | c.311T>A (p.Val104Glu) | |
| X | g.634651T>C | CA412231220 | SHOX | c.311T>C (p.Val104Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.634651T>G | CA412231221 | SHOX | c.311T>G (p.Val104Gly) | |
| X | g.634651T= | CA2411385687 | SHOX | c.311T= (p.Val104=) | |
| X | g.634652G>A | CA515393080 | SHOX | c.312G>A (p.Val104=) | COSMIC |
| X | g.634652G>C | CA515393083 | SHOX | c.312G>C (p.Val104=) | dbSNP |
| X | g.634652G= | CA2411385688 | SHOX | c.312G= (p.Val104=) | |
| X | g.634652G>T | CA10329947 | SHOX | c.312G>T (p.Val104=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.634653A>C | CA412231222 | SHOX | c.313A>C (p.Lys105Gln) | |
| X | g.634653A>G | CA412231223 | SHOX | c.313A>G (p.Lys105Glu) | |
| X | g.634653A>T | CA412231224 | SHOX | c.313A>T (p.Lys105Ter) | gnomAD v4 |
| X | g.634654A>C | CA412231225 | SHOX | c.314A>C (p.Lys105Thr) | |
| X | g.634654A>G | CA412231226 | SHOX | c.314A>G (p.Lys105Arg) | |
| X | g.634654A>T | CA412231227 | SHOX | c.314A>T (p.Lys105Met) | |
| X | g.634655G>A | CA515393086 | SHOX | c.315G>A (p.Lys105=) | |
| X | g.634655G>C | CA412231228 | SHOX | c.315G>C (p.Lys105Asn) | |
| X | g.634655G>T | CA412231229 | SHOX | c.315G>T (p.Lys105Asn) | |
| X | g.634656T>A | CA412231230 | SHOX | c.316T>A (p.Ser106Thr) | |
| X | g.634656T>C | CA412231231 | SHOX | c.316T>C (p.Ser106Pro) | |
| X | g.634656T>G | CA412231232 | SHOX | c.316T>G (p.Ser106Ala) | |
| X | g.634657C>A | CA412231233 | SHOX | c.317C>A (p.Ser106Ter) | |
| X | g.634657C= | CA2411385689 | SHOX | c.317C= (p.Ser106=) | |
| X | g.634657C>G | CA325621133 | SHOX | c.317C>G (p.Ser106Trp) | dbSNP gnomAD v4 |
| X | g.634657C>T | CA412231234 | SHOX | c.317C>T (p.Ser106Leu) | gnomAD v4 COSMIC COSMIC |
| X | g.634658G>A | CA515393093 | SHOX | c.318G>A (p.Ser106=) | dbSNP gnomAD v4 |
| X | g.634658G>C | CA515393094 | SHOX | c.318G>C (p.Ser106=) | gnomAD v4 |