Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.634634A= | CA2411385676 | SHOX | c.294A= (p.Lys98=) | |
X | g.634634A>C | CA412231183 | SHOX | c.294A>C (p.Lys98Asn) | |
X | g.634634A>G | CA10329941 | SHOX | c.294A>G (p.Lys98=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.634634A>T | CA412231184 | SHOX | c.294A>T (p.Lys98Asn) | |
X | g.634635G>A | CA412231186 | SHOX | c.295G>A (p.Glu99Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.634635G>C | CA10329942 | SHOX | c.295G>C (p.Glu99Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.634635G= | CA2411385677 | SHOX | c.295G= (p.Glu99=) | |
X | g.634635G>T | CA412231185 | SHOX | c.295G>T (p.Glu99Ter) | |
X | g.634636A>C | CA412231187 | SHOX | c.296A>C (p.Glu99Ala) | |
X | g.634636A>G | CA412231188 | SHOX | c.296A>G (p.Glu99Gly) | |
X | g.634636A>T | CA412231189 | SHOX | c.296A>T (p.Glu99Val) | |
X | g.634637G>A | CA515393048 | SHOX | c.297G>A (p.Glu99=) | |
X | g.634637G>C | CA10329943 | SHOX | c.297G>C (p.Glu99Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.634637G= | CA2411385678 | SHOX | c.297G= (p.Glu99=) | |
X | g.634637G>T | CA412231190 | SHOX | c.297G>T (p.Glu99Asp) | COSMIC |
X | g.634638A>C | CA412231191 | SHOX | c.298A>C (p.Lys100Gln) | gnomAD v4 |
X | g.634638A>G | CA412231192 | SHOX | c.298A>G (p.Lys100Glu) | |
X | g.634638A>T | CA412231193 | SHOX | c.298A>T (p.Lys100Ter) | |
X | g.634639A= | CA2411385679 | SHOX | c.299A= (p.Lys100=) | |
X | g.634639A>C | CA412231194 | SHOX | c.299A>C (p.Lys100Thr) | |
X | g.634639A>G | CA412231195 | SHOX | c.299A>G (p.Lys100Arg) | dbSNP |
X | g.634639A>T | CA412231196 | SHOX | c.299A>T (p.Lys100Met) | |
X | g.634640G>A | CA515393053 | SHOX | c.300G>A (p.Lys100=) | |
X | g.634640G>C | CA412231197 | SHOX | c.300G>C (p.Lys100Asn) | dbSNP gnomAD v4 |
X | g.634640G= | CA2411385680 | SHOX | c.300G= (p.Lys100=) | |
X | g.634640G>T | CA412231198 | SHOX | c.300G>T (p.Lys100Asn) | |
X | g.634641C>A | CA325621117 | SHOX | c.301C>A (p.Arg101Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.634641C= | CA2411385681 | SHOX | c.301C= (p.Arg101=) | |
X | g.634641C>G | CA412231199 | SHOX | c.301C>G (p.Arg101Gly) | gnomAD v4 |
X | g.634641C>T | CA10329944 | SHOX | c.301C>T (p.Arg101Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.634642G>A | CA10329945 | SHOX | c.302G>A (p.Arg101His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.634642G>C | CA412231200 | SHOX | c.302G>C (p.Arg101Pro) | gnomAD v4 |
X | g.634642G= | CA2411385682 | SHOX | c.302G= (p.Arg101=) | |
X | g.634642G>T | CA412231201 | SHOX | c.302G>T (p.Arg101Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.634643C>A | CA515393063 | SHOX | c.303C>A (p.Arg101=) | |
X | g.634643C= | CA2411385683 | SHOX | c.303C= (p.Arg101=) | |
X | g.634643C>G | CA515393064 | SHOX | c.303C>G (p.Arg101=) | |
X | g.634643C>T | CA515393065 | SHOX | c.303C>T (p.Arg101=) | dbSNP gnomAD v3 gnomAD v4 |
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) |