Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_018483 | Disease | p.ALA1513THR | Cardiomyopathy, dilated 1O (CMD1O) |
Swiss-Prot | VAR_068489 | Disease | p.ALA478VAL | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068494 | Disease | p.ARG1116CYS | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068496 | Disease | p.ARG1154GLN | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068495 | Disease | p.ARG1116HIS | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068497 | Disease | p.ARG1154TRP | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068486 | Disease | p.ASP207GLU | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068492 | Disease | p.CYS1043TYR | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068487 | Disease | p.GLY380CYS | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068485 | Disease | p.HIS60TYR | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068491 | Disease | p.PHE1039SER | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068488 | Disease | p.PRO432LEU | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_048143 | Polymorphism | p.PRO1108SER | N/A |
Swiss-Prot | VAR_068490 | Disease | p.SER1020PRO | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_068493 | Disease | p.SER1054TYR | Hypertrichotic osteochondrodysplasia (HTOCD) |
Swiss-Prot | VAR_066210 | Disease | p.THR1547ILE | Atrial fibrillation, familial, 12 (ATFB12) |
OMIM | 601439.0007 | Disease | p.ALA478VAL | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
OMIM | 601439.0009 | Disease | p.ARG1116CYS | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
OMIM | 601439.0005 | Disease | p.ARG1154GLN | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
OMIM | 601439.0008 | Disease | p.ARG1116HIS | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
OMIM | 601439.0004 | Disease | p.ARG1154TRP | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
OMIM | 601439.0006 | Disease | p.CYS1043TYR | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
OMIM | 601439.0011 | Disease | p.HIS60TYR | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
OMIM | 601439.0010 | Disease | p.SER1020PRO | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |