Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_012627 | Disease | p.ALA1046ASP | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_035726 | Polymorphism | p.ALA1407THR | N/A |
Swiss-Prot | VAR_062499 | Polymorphism | p.ALA1670THR | N/A |
Swiss-Prot | VAR_035727 | Polymorphism | p.ALA2109THR | N/A |
Swiss-Prot | VAR_012620 | Disease | p.ALA255THR | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_009151 | Disease | p.ALA937VAL | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062493 | Disease | p.ARG1068CYS | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_012619 | Disease | p.ARG230CYS | High density lipoprotein deficiency 2 (HDLD2) |
Swiss-Prot | VAR_062498 | Polymorphism | p.ARG1615GLN | N/A |
Swiss-Prot | VAR_062500 | Polymorphism | p.ARG1680GLN | N/A |
Swiss-Prot | VAR_062502 | Disease | p.ARG1851GLN | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062505 | Polymorphism | p.ARG1925GLN | N/A |
Swiss-Prot | VAR_062488 | Polymorphism | p.ARG638GLN | N/A |
dbSNP | rs2230806 | Polymorphism | p.ARG219LYS | N/A |
Swiss-Prot | VAR_062504 | Disease | p.ARG1901SER | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062495 | Polymorphism | p.ARG1341THR | N/A |
Swiss-Prot | VAR_037970 | Disease | p.ARG1680TRP | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062503 | Polymorphism | p.ARG1897TRP | N/A |
Swiss-Prot | VAR_012635 | Disease | p.ARG2081TRP | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062486 | Polymorphism | p.ARG496TRP | N/A |
Swiss-Prot | VAR_009146 | Disease | p.ARG587TRP | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_012632 | Polymorphism | p.ASN1611ASP | N/A |
Swiss-Prot | VAR_009155 | Disease | p.ASN1800HIS | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_037968 | Disease | p.ASN935HIS | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_009150 | Disease | p.ASN935SER | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_009152 | Disease | p.ASP1289ASN | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062508 | Polymorphism | p.ASP2243GLU | N/A |
Swiss-Prot | VAR_017530 | Disease | p.ASP1099TYR | High density lipoprotein deficiency 2 (HDLD2) |
Swiss-Prot | VAR_035725 | Polymorphism | p.ASP917TYR | N/A |
Swiss-Prot | VAR_009153 | Disease | p.CYS1477ARG | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_009148 | Disease | p.GLN597ARG | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062507 | Disease | p.GLN2196HIS | High density lipoprotein deficiency 1 (HDLD1) |
dbSNP | rs33918808 | Polymorphism | p.GLU1172ASP | N/A |
Swiss-Prot | VAR_035724 | Polymorphism | p.GLU210ASP | N/A |
Swiss-Prot | VAR_062490 | Polymorphism | p.GLU815GLY | N/A |
Swiss-Prot | VAR_062482 | Disease | p.GLU284LYS | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062494 | Polymorphism | p.GLY1216VAL | N/A |
Swiss-Prot | VAR_009154 | Disease | p.ILE1517ARG | High density lipoprotein deficiency 1 (HDLD1) |
dbSNP | rs2066714 | Polymorphism | p.ILE883MET | N/A |
Swiss-Prot | VAR_012638 | Polymorphism | p.ILE1555THR | N/A |
Swiss-Prot | VAR_062497 | Disease | p.LEU1379PHE | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_012639 | Polymorphism | p.LEU1648PRO | N/A |
Swiss-Prot | VAR_012637 | Polymorphism | p.LEU2168PRO | N/A |
dbSNP | rs2230808 | Polymorphism | p.LYS1587ARG | N/A |
Swiss-Prot | VAR_012623 | Polymorphism | p.LYS776ASN | N/A |
Swiss-Prot | VAR_062484 | Polymorphism | p.LYS401GLN | N/A |
Swiss-Prot | VAR_012628 | Disease | p.MET1091THR | High density lipoprotein deficiency 2 (HDLD2) |
Swiss-Prot | VAR_037971 | Disease | p.PHE2009SER | High density lipoprotein deficiency 2 (HDLD2) |
Swiss-Prot | VAR_062506 | Polymorphism | p.PHE2163SER | N/A |
Swiss-Prot | VAR_062481 | Polymorphism | p.PRO248ALA | N/A |
Swiss-Prot | VAR_012636 | Disease | p.PRO2150LEU | High density lipoprotein deficiency 2 (HDLD2) |
Swiss-Prot | VAR_017529 | Disease | p.PRO85LEU | High density lipoprotein deficiency 2 (HDLD2) |
Swiss-Prot | VAR_062492 | Polymorphism | p.PRO1065SER | N/A |
Swiss-Prot | VAR_012633 | Polymorphism | p.SER1731CYS | N/A |
Swiss-Prot | VAR_062483 | Polymorphism | p.SER364CYS | N/A |
Swiss-Prot | VAR_062496 | Polymorphism | p.SER1376GLY | N/A |
Swiss-Prot | VAR_012630 | Disease | p.SER1506LEU | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_017016 | Polymorphism | p.SER1181PHE | N/A |
Swiss-Prot | VAR_012626 | Disease | p.THR929ILE | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_012622 | Polymorphism | p.THR774PRO | N/A |
Swiss-Prot | VAR_062489 | Polymorphism | p.THR774SER | N/A |
Swiss-Prot | VAR_062491 | Disease | p.TRP840ARG | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062487 | Disease | p.TRP590LEU | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_009147 | Disease | p.TRP590SER | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_062485 | Disease | p.TYR482CYS | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_009145 | Polymorphism | p.VAL399ALA | N/A |
Swiss-Prot | VAR_062501 | Disease | p.VAL1704ASP | High density lipoprotein deficiency 1 (HDLD1) |
Swiss-Prot | VAR_037969 | Polymorphism | p.VAL1054ILE | N/A |
Swiss-Prot | VAR_062509 | Polymorphism | p.VAL2244ILE | N/A |
dbSNP | rs2066715 | Polymorphism | p.VAL825ILE | N/A |
dbSNP | rs2066718 | Polymorphism | p.VAL771MET | N/A |
OMIM | 600046.0007 | Disease | p.ALA877VAL | TANGIER DISEASE |
OMIM | 600046.0024 | Disease | p.ARG219LYS | CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION||AGAINST |
OMIM | 600046.0017 | Disease | p.ARG1680TRP | TANGIER DISEASE, VARIANT |
OMIM | 600046.0021 | Disease | p.ARG2021TRP | TANGIER DISEASE |
OMIM | 600046.0015 | Disease | p.ASN935HIS | TANGIER DISEASE |
OMIM | 600046.0006 | Disease | p.ASN875SER | TANGIER DISEASE |
OMIM | 600046.0014 | Disease | p.ASN935SER | TANGIER DISEASE |
OMIM | 600046.0020 | Disease | p.ASP1229ASN | TANGIER DISEASE |
OMIM | 600046.0018 | Disease | p.ASP1099TYR | HIGH DENSITY LIPOPROTEIN DEFICIENCY |
OMIM | 600046.0001 | Disease | p.CYS1417ARG | TANGIER DISEASE |
OMIM | 600046.0003 | Disease | p.GLN537ARG | TANGIER DISEASE |
OMIM | 600046.0019 | Disease | p.PHE2009SER | HIGH DENSITY LIPOPROTEIN DEFICIENCY |
OMIM | 600046.0013 | Disease | p.SER1446LEU | TANGIER DISEASE |
OMIM | 600046.0008 | Disease | p.TRP530SER | TANGIER DISEASE |
OMIM | 600046.0023 | Disease | p.TYR573TER | TANGIER DISEASE |