Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.634734C>A | CA412231396 | SHOX | c.394C>A (p.Leu132Ile) | gnomAD v4 |
X | g.634734C= | CA2411385737 | SHOX | c.394C= (p.Leu132=) | |
X | g.634734C>G | CA254913 | SHOX | c.394C>G (p.Leu132Val) | dbSNP |
X | g.634734C>T | CA412231397 | SHOX | c.394C>T (p.Leu132Phe) | |
X | g.634735T>A | CA412231398 | SHOX | c.395T>A (p.Leu132His) | |
X | g.634735T>C | CA412231399 | SHOX | c.395T>C (p.Leu132Pro) | |
X | g.634735T>G | CA412231400 | SHOX | c.395T>G (p.Leu132Arg) | |
X | g.634736C>A | CA515393275 | SHOX | c.396C>A (p.Leu132=) | gnomAD v4 |
X | g.634736C= | CA2411385738 | SHOX | c.396C= (p.Leu132=) | |
X | g.634736C>G | CA10329966 | SHOX | c.396C>G (p.Leu132=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.634736C>T | CA515393277 | SHOX | c.396C>T (p.Leu132=) | |
X | g.634737G>A | CA412231401 | SHOX | c.397G>A (p.Glu133Lys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.634737G>C | CA10329967 | SHOX | c.397G>C (p.Glu133Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.634737G= | CA2411385739 | SHOX | c.397G= (p.Glu133=) | |
X | g.634737G>T | CA412231402 | SHOX | c.397G>T (p.Glu133Ter) | |
X | g.634738A>C | CA412231403 | SHOX | c.398A>C (p.Glu133Ala) | |
X | g.634738A>G | CA412231404 | SHOX | c.398A>G (p.Glu133Gly) | |
X | g.634738A>T | CA412231405 | SHOX | c.398A>T (p.Glu133Val) | |
X | g.634739G>A | CA515393292 | SHOX | c.399G>A (p.Glu133=) | |
X | g.634739G>C | CA412231406 | SHOX | c.399G>C (p.Glu133Asp) | dbSNP |
X | g.634739G= | CA2411385740 | SHOX | c.399G= (p.Glu133=) | |
X | g.634739G>T | CA412231407 | SHOX | c.399G>T (p.Glu133Asp) | |
X | g.634740C>A | CA214250 | SHOX | c.400C>A (p.Arg134=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.634740C= | CA2411385741 | SHOX | c.400C= (p.Arg134=) | |
X | g.634740C>G | CA412231408 | SHOX | c.400C>G (p.Arg134Gly) | |
X | g.634740C>T | CA412231409 | SHOX | c.400C>T (p.Arg134Ter) | |
X | g.634741G>A | CA412231410 | SHOX | c.401G>A (p.Arg134Gln) | gnomAD v4 |
X | g.634741G>C | CA412231411 | SHOX | c.401G>C (p.Arg134Pro) | |
X | g.634741G= | CA2411385742 | SHOX | c.401G= (p.Arg134=) | |
X | g.634741G>T | CA412231412 | SHOX | c.401G>T (p.Arg134Leu) | dbSNP gnomAD v4 |
X | g.634742A= | CA2411385743 | SHOX | c.402A= (p.Arg134=) | |
X | g.634742A>C | CA515393307 | SHOX | c.402A>C (p.Arg134=) | |
X | g.634742A>G | CA515393308 | SHOX | c.402A>G (p.Arg134=) | dbSNP |
X | g.634742A>T | CA515393309 | SHOX | c.402A>T (p.Arg134=) | |
X | g.634743C>A | CA412231413 | SHOX | c.403C>A (p.Leu135Ile) | |
X | g.634743C= | CA2411385744 | SHOX | c.403C= (p.Leu135=) | |
X | g.634743C>G | CA412231415 | SHOX | c.403C>G (p.Leu135Val) | dbSNP gnomAD v4 |
X | g.634743C>T | CA412231414 | SHOX | c.403C>T (p.Leu135Phe) | gnomAD v4 |
X | g.634744T>A | CA412231416 | SHOX | c.404T>A (p.Leu135His) | |
X | g.634744T>C | CA412231417 | SHOX | c.404T>C (p.Leu135Pro) | |
X | g.634744T>G | CA412231418 | SHOX | c.404T>G (p.Leu135Arg) | |
X | g.634745C>A | CA515393318 | SHOX | c.405C>A (p.Leu135=) | |
X | g.634745C>G | CA515393319 | SHOX | c.405C>G (p.Leu135=) | gnomAD v4 |
X | g.634745C>T | CA515393320 | SHOX | c.405C>T (p.Leu135=) | |
X | g.634746T>A | CA412231419 | SHOX | c.406T>A (p.Phe136Ile) | |
X | g.634746T>C | CA412231420 | SHOX | c.406T>C (p.Phe136Leu) | |
X | g.634746T>G | CA412231421 | SHOX | c.406T>G (p.Phe136Val) | |
X | g.634747T>A | CA412231422 | SHOX | c.407T>A (p.Phe136Tyr) | |
X | g.634747T>C | CA412231423 | SHOX | c.407T>C (p.Phe136Ser) | |
X | g.634747T>G | CA412231424 | SHOX | c.407T>G (p.Phe136Cys) |