Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
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| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
KRT4
(HGNC:6441)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KRT16
(HGNC:6423)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KRT17
(HGNC:6427)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KRT2
(HGNC:6439)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
KRT13
(HGNC:6415)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KRT12
(HGNC:6414)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KRT10
(HGNC:6413)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
MAFB
(HGNC:6408)
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
KPTN
(HGNC:6404)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KIF5C
(HGNC:6325)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
KLKB1
(HGNC:6371)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
AQP4
(HGNC:637)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
|
|
KLF2
(HGNC:6347)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
|
|
KNG1
(HGNC:6383)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KLHL3
(HGNC:6354)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
KCNMA1
(HGNC:6284)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Weak
|
Strong
|
|
|
KEL
(HGNC:6308)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
KCNK9
(HGNC:6283)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
KCNN2
(HGNC:6291)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
KCNK3
(HGNC:6278)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|