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Sherloc
Calcipath (v1)
Calcipath (v2)
Variant ID / HGVS reference / Amino acid change (e.g., c.1171A>G or p.Arg391Gly)
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Nucleotide change
Amino acid change
Gene Symbol
Enrichment
Incomplete penetrance Netscraper
Allele Frequency
Homozygous Count
Segregation Data (LOD)
>=3 informative individuals from 1 family (weak)
No data
yes
no
Case Report Count
Zygosity
No data
Homozygous
One variant is VUS not in cis
One variant is (Likely) Pathogenic not in cis
Heterozygous or Unknown
De Novo
No data
yes
no
In trans with a second (Likely) Pathogenic variant
No data
yes
no
PolyPhen-2
No data
probably damaging
benign
possibly damaging
MutationTaster
No data
polymorphism
disease causing
MutationAssessor
No data
High
Medium
Low
Neutral
Stop gained
Align-GVGD
↗
No data
C0-C15
C15-C65
Variant type
No data
Same amino acid substitution as (Likely) Pathogenic variant but different nucleotide change
Affects residue critical for protein structure/function
Different missense at this residue is (Likely) Pathogenic
Located in functional domain or mutational hotspot
VUS reported at this residu
Nonsense
Frameshift
Missense
Large deletion
Synonimous
Splice site
No data
Last G exon mutation
Before last A exon mutation
Intron 5' end GU
Intro 3' end AG
Exon first nucleotide mutation
Biochemical Data
No data
Strong Evidence - Impact observed
Strong Evidence - no Impact observed
Weak Evidence - Impact observed
Weak Evidence - no Impact observed
Conflicting / No information
Hierarchial approach
Limited or no clinical data
Well-characterised founder mutation or recurrent variant
Not a founder mutation or recurrent variant
Abudance of positive clinical data
Abudance of negative clinical data
