| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.74862864C>T | CA293970657 | FDXR | c.1429G>A (p.Glu477Lys) c.1522G>A (p.Glu508Lys) c.1309G>A (p.Glu437Lys) c.1558G>A (p.Glu520Lys) c.1273G>A (p.Glu425Lys) c.*1388G>A (n.*1388G>A) n.2117G>A c.*1621G>A (n.*1621G>A) c.1447G>A (p.Glu483Lys) c.1405G>A (p.Glu469Lys) c.*894G>A (n.*894G>A) c.1345G>A (p.Glu449Lys) n.1616G>A c.1432G>A (p.Glu478Lys) c.1450G>A (p.Glu484Lys) c.1441G>A (p.Glu481Lys) c.1438G>A (p.Glu480Lys) c.1312G>A (p.Glu438Lys) c.1294G>A (p.Glu432Lys) c.1291G>A (p.Glu431Lys) c.1276G>A (p.Glu426Lys) c.1147G>A (p.Glu383Lys) c.700G>A (p.Glu234Lys) n.2285G>A n.1579G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.74862864C>G | CA400964877 | FDXR | c.1429G>C (p.Glu477Gln) c.1522G>C (p.Glu508Gln) c.1309G>C (p.Glu437Gln) c.1558G>C (p.Glu520Gln) c.1273G>C (p.Glu425Gln) c.*1388G>C (n.*1388G>C) n.2117G>C c.*1621G>C (n.*1621G>C) c.1447G>C (p.Glu483Gln) c.1405G>C (p.Glu469Gln) c.*894G>C (n.*894G>C) c.1345G>C (p.Glu449Gln) n.1616G>C c.1432G>C (p.Glu478Gln) c.1450G>C (p.Glu484Gln) c.1441G>C (p.Glu481Gln) c.1438G>C (p.Glu480Gln) c.1312G>C (p.Glu438Gln) c.1294G>C (p.Glu432Gln) c.1291G>C (p.Glu431Gln) c.1276G>C (p.Glu426Gln) c.1147G>C (p.Glu383Gln) c.700G>C (p.Glu234Gln) n.2285G>C n.1579G>C | dbSNP gnomAD v4 |
| 17 | g.74862864C= | CA2275227458 | FDXR | c.1429G= (p.Glu477=) c.1522G= (p.Glu508=) c.1309G= (p.Glu437=) c.1558G= (p.Glu520=) c.1273G= (p.Glu425=) c.*1388G= (n.*1388G=) n.2117G= c.*1621G= (n.*1621G=) c.1447G= (p.Glu483=) c.1405G= (p.Glu469=) c.*894G= (n.*894G=) c.1345G= (p.Glu449=) n.1616G= c.1432G= (p.Glu478=) c.1450G= (p.Glu484=) c.1441G= (p.Glu481=) c.1438G= (p.Glu480=) c.1312G= (p.Glu438=) c.1294G= (p.Glu432=) c.1291G= (p.Glu431=) c.1276G= (p.Glu426=) c.1147G= (p.Glu383=) c.700G= (p.Glu234=) n.2285G= n.1579G= | dbSNP |