| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31478309T>C | CA285623 | DMD | c.3580A>G (p.Asn1194Asp) c.1354A>G (p.Asn452Asp) n.2199A>G n.2226A>G c.589A>G (p.Asn197Asp) c.8734A>G (p.Asn2912Asp) c.4702A>G (p.Asn1568Asp) n.2395A>G c.547A>G (p.Asn183Asp) c.1822A>G (p.Asn608Asp) c.8722A>G (p.Asn2908Asp) c.8719A>G (p.Asn2907Asp) c.8731A>G (p.Asn2911Asp) c.8710A>G (p.Asn2904Asp) c.8365A>G (p.Asn2789Asp) c.4711A>G (p.Asn1571Asp) c.8605A>G (p.Asn2869Asp) c.8596A>G (p.Asn2866Asp) c.8611A>G (p.Asn2871Asp) c.2908A>G (p.Asn970Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31478309T= | CA2422446120 | DMD | c.3580A= (p.Asn1194=) c.1354A= (p.Asn452=) n.2199A= n.2226A= c.589A= (p.Asn197=) c.8734A= (p.Asn2912=) c.4702A= (p.Asn1568=) n.2395A= c.547A= (p.Asn183=) c.1822A= (p.Asn608=) c.8722A= (p.Asn2908=) c.8719A= (p.Asn2907=) c.8731A= (p.Asn2911=) c.8710A= (p.Asn2904=) c.8365A= (p.Asn2789=) c.4711A= (p.Asn1571=) c.8605A= (p.Asn2869=) c.8596A= (p.Asn2866=) c.8611A= (p.Asn2871=) c.2908A= (p.Asn970=) | dbSNP |
| X | g.31478309T>A | CA412654277 | DMD | c.3580A>T (p.Asn1194Tyr) c.1354A>T (p.Asn452Tyr) n.2199A>T n.2226A>T c.589A>T (p.Asn197Tyr) c.8734A>T (p.Asn2912Tyr) c.4702A>T (p.Asn1568Tyr) n.2395A>T c.547A>T (p.Asn183Tyr) c.1822A>T (p.Asn608Tyr) c.8722A>T (p.Asn2908Tyr) c.8719A>T (p.Asn2907Tyr) c.8731A>T (p.Asn2911Tyr) c.8710A>T (p.Asn2904Tyr) c.8365A>T (p.Asn2789Tyr) c.4711A>T (p.Asn1571Tyr) c.8605A>T (p.Asn2869Tyr) c.8596A>T (p.Asn2866Tyr) c.8611A>T (p.Asn2871Tyr) c.2908A>T (p.Asn970Tyr) | dbSNP gnomAD v4 |