Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_010629 | Disease | p.ALA573ASP | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010635 | Disease | p.ALA720THR | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006741 | Disease | p.ARG166CYS | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010628 | Disease | p.ARG567PRO | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010631 | Disease | p.ARG651PRO | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010633 | Disease | p.ASN680LYS | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010622 | Disease | p.ASP237GLY | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010618 | Disease | p.CYS85ARG | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010620 | Disease | p.CYS142PHE | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010617 | Disease | p.CYS85PHE | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010637 | Disease | p.CYS733SER | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006738 | Disease | p.CYS77SER | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010638 | Disease | p.CYS746TRP | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010634 | Disease | p.CYS693TYR | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006739 | Disease | p.CYS85TYR | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010630 | Disease | p.GLN621ARG | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006745 | Disease | p.GLY579ARG | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006746 | Disease | p.GLY579VAL | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010621 | Disease | p.LEU160ARG | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006740 | Disease | p.LEU138PRO | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010627 | Disease | p.LEU555PRO | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006743 | Disease | p.MET253ILE | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006742 | Disease | p.PHE252SER | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010616 | Disease | p.PHE80SER | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010636 | Disease | p.PHE731TYR | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_006744 | Disease | p.PRO534LEU | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010619 | Disease | p.SER141PRO | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010639 | Disease | p.TRP749ARG | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010626 | Disease | p.TRP530CYS | Hypophosphatemic rickets, X-linked dominant (XLHR) |
Swiss-Prot | VAR_010623 | Disease | p.TYR317PHE | Hypophosphatemic rickets, X-linked dominant (XLHR) |
OMIM | 300550.0010 | Disease | p.ARG567TER | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT |
OMIM | 300550.0005 | Disease | p.CYS82TYR | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT |
OMIM | 300550.0007 | Disease | p.LEU555PRO | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT |
OMIM | 300550.0004 | Disease | p.LEU274TER | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT |
OMIM | 300550.0006 | Disease | p.MET250ILE | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT |
OMIM | 300550.0006 | Disease | p.PHE249SER | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT |