All transcript variants in gene IDS

Information The variants shown are described using the NM_000202.5 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. 3 c.308C>G - r.[309c>g, 241_418del] p.[Tyr103*, Gln81Glyfs*73] g.148584952G>C - 433C>G, g2772C>G - IDS_000027 - PubMed: Bonuccelli 2000 - - Germline - - RsaI- 0 - Johan den Dunnen
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