MSeqDR.org Variant Mapping and Annotation

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
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- MitoTIP tRNA Scoring
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- Variant Tool:
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- POLG Patho. Server
- Data - Awsomics GeEx
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Phenome-Disease
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- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR-LSDB record for MSCV_0000295:

gnoMAD record for MSCV_0000295:

MSeqDR-LSDB all records for same variant 11:g.47603692C>T Annotation:

MSeqDR original submission record for MSCV_0000295:

*Click on gene and variants to check details.