View unique variants in gene CAPN10

Information The variants shown are described using the NM_023083.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 c.471-187T>C p.(=) - - - - r.(=) - 2 Unknown - g.241531163T>C - - - CAPN10_000002 MSCV_0019709 - - ; clinvar; - - - -
+?/+?, ./. 2 c.471-176G>A p.(=) - - - - r.(=) - 2 Unknown subst g.241531174G>A - -5.610 - CAPN10_000001 MSCV_0000889 rs3792267 - ; clinvar; 15240652;11017071 - - -
./. 1 c.997+115_997+116insGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT p.(=) - - - - r.(=) - 2 Unknown - g.241534241_241534242insGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT - - - CAPN10_000003 MSCV_0019711 - - ; clinvar; - - - -
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