Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
X | g.634658G= | CA2411385690 | SHOX | c.318G= (p.Ser106=) | |
X | g.634658G>T | CA515393095 | SHOX | c.318G>T (p.Ser106=) | gnomAD v4 |
X | g.634659G>A | CA412231237 | SHOX | c.319G>A (p.Glu107Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.634659G>C | CA412231235 | SHOX | c.319G>C (p.Glu107Gln) | |
X | g.634659G= | CA2411385691 | SHOX | c.319G= (p.Glu107=) | |
X | g.634659G>T | CA412231236 | SHOX | c.319G>T (p.Glu107Ter) | |
X | g.634660A= | CA2411385692 | SHOX | c.320A= (p.Glu107=) | |
X | g.634660A>C | CA412231238 | SHOX | c.320A>C (p.Glu107Ala) | |
X | g.634660A>G | CA412231239 | SHOX | c.320A>G (p.Glu107Gly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.634660A>T | CA412231240 | SHOX | c.320A>T (p.Glu107Val) | |
X | g.634661G>A | CA515393102 | SHOX | c.321G>A (p.Glu107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.634661G>C | CA412231241 | SHOX | c.321G>C (p.Glu107Asp) | |
X | g.634661G= | CA2411385694 | SHOX | c.321G= (p.Glu107=) | |
X | g.634661G>T | CA412231242 | SHOX | c.321G>T (p.Glu107Asp) | |
X | g.634661_634664delinsGGAC | CA2411385693 | SHOX | c.321_324delinsGGAC (p.Glu107=) | |
X | g.634662G>A | CA412231243 | SHOX | c.322G>A (p.Asp108Asn) | |
X | g.634662G>C | CA412231245 | SHOX | c.322G>C (p.Asp108His) | |
X | g.634662G>T | CA412231244 | SHOX | c.322G>T (p.Asp108Tyr) | gnomAD v4 |
X | g.634664_634666del | CA640360087 | SHOX | c.324_326del (p.Asp108del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.634663A= | CA2411385695 | SHOX | c.323A= (p.Asp108=) | |
X | g.634663A>C | CA412231246 | SHOX | c.323A>C (p.Asp108Ala) | dbSNP |
X | g.634663A>G | CA412231247 | SHOX | c.323A>G (p.Asp108Gly) | gnomAD v4 |
X | g.634663A>T | CA412231248 | SHOX | c.323A>T (p.Asp108Val) | |
X | g.634664C>A | CA412231249 | SHOX | c.324C>A (p.Asp108Glu) | gnomAD v4 |
X | g.634664C= | CA2411385696 | SHOX | c.324C= (p.Asp108=) | |
X | g.634664C>G | CA412231250 | SHOX | c.324C>G (p.Asp108Glu) | |
X | g.634664C>T | CA515393106 | SHOX | c.324C>T (p.Asp108=) | dbSNP gnomAD v4 |
X | g.634665G>A | CA10329949 | SHOX | c.325G>A (p.Glu109Lys) | dbSNP ExAC COSMIC COSMIC |
X | g.634665G>C | CA10329948 | SHOX | c.325G>C (p.Glu109Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.634665G= | CA2411385697 | SHOX | c.325G= (p.Glu109=) | |
X | g.634665G>T | CA412231251 | SHOX | c.325G>T (p.Glu109Ter) | |
X | g.634666A>C | CA412231252 | SHOX | c.326A>C (p.Glu109Ala) | |
X | g.634666A>G | CA412231253 | SHOX | c.326A>G (p.Glu109Gly) | |
X | g.634666A>T | CA412231254 | SHOX | c.326A>T (p.Glu109Val) | |
X | g.634667G>A | CA325621140 | SHOX | c.327G>A (p.Glu109=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.634667G>C | CA412231255 | SHOX | c.327G>C (p.Glu109Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.634667G= | CA2411385698 | SHOX | c.327G= (p.Glu109=) | |
X | g.634667G>T | CA10329950 | SHOX | c.327G>T (p.Glu109Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.634668G>A | CA412231256 | SHOX | c.328G>A (p.Asp110Asn) | gnomAD v4 |
X | g.634668G>C | CA412231258 | SHOX | c.328G>C (p.Asp110His) | |
X | g.634668G= | CA2411385699 | SHOX | c.328G= (p.Asp110=) | |
X | g.634668G>T | CA412231257 | SHOX | c.328G>T (p.Asp110Tyr) | dbSNP gnomAD v4 |
X | g.634669A>C | CA412231259 | SHOX | c.329A>C (p.Asp110Ala) | |
X | g.634669A>G | CA412231260 | SHOX | c.329A>G (p.Asp110Gly) | |
X | g.634669A>T | CA412231261 | SHOX | c.329A>T (p.Asp110Val) | |
X | g.634670C>A | CA412231262 | SHOX | c.330C>A (p.Asp110Glu) | gnomAD v4 |
X | g.634670C= | CA2411385700 | SHOX | c.330C= (p.Asp110=) | |
X | g.634670C>G | CA412231263 | SHOX | c.330C>G (p.Asp110Glu) |