Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_058601 | Disease | p.ARG325LEU | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058605 | Disease | p.ARG373PRO | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058602 | Disease | p.ARG325SER | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058609 | Disease | p.ARG409TRP | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058593 | Disease | p.ASP128ASN | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058592 | Disease | p.ASP37ASN | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_023794 | Disease | p.ASP152PHE | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058604 | Disease | p.CYS335PHE | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_023793 | Disease | p.GLN36PRO | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058608 | Disease | p.HIS404ARG | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058596 | Disease | p.HIS286GLN | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058610 | Disease | p.HIS415GLN | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058595 | Disease | p.HIS286LEU | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058597 | Disease | p.HIS286TYR | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058598 | Disease | p.HIS291TYR | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058603 | Disease | p.HIS327TYR | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058600 | Disease | p.PHE314CYS | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058594 | Disease | p.SER272ASN | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058607 | Disease | p.THR403LYS | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058599 | Disease | p.TRP304ARG | Holoprosencephaly 5 (HPE5) |
Swiss-Prot | VAR_058606 | Disease | p.TYR402ASN | Holoprosencephaly 5 (HPE5) |