All transcript variants in gene CMSS1

Information The variants shown are described using the NM_032359.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.64+32586C>T r.(=) p.(=) - likely benign g.99569473C>T g.99850629C>T FILIP1L(NM_001042459.2):c.1047G>A (p.E349=) - CMSS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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