All transcript variants in gene COL4A3

Information The variants shown are described using the NM_000091.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. c.1381G>C p.(Gly461Arg) - - - - r.(?) - - g.228131198G>C - - - COL4A3_000008 - - ; clinvar; - - - LOVD
./. c.4382C>T p.(Pro1461Leu) - - - - r.(?) - - g.228172555C>T - - - COL4A3_000009 - - ; clinvar; - - - LOVD
./. c.4474A>T p.(Ser1492Cys) - - - - r.(?) - - g.228173626A>T - - - COL4A3_000001 - - ; clinvar; - - - LOVD
./. c.*1057del p.(=) - - - - r.(=) - - g.228177643del - - - COL4A3_000002 - - ; clinvar; - - - LOVD
./. c.*1239C>G p.(=) - - - - r.(=) - - g.228177825C>G - - - COL4A3_000003 - - ; clinvar; - - - LOVD
./. c.*1645del p.(=) - - - - r.(=) - - g.228178231del - - - COL4A3_000004 - - ; clinvar; - - - LOVD
./. c.*1764A>G p.(=) - - - - r.(=) - - g.228178350A>G - - - COL4A3_000005 - - ; clinvar; - - - LOVD
./. c.*2272T>C p.(=) - - - - r.(=) - - g.228178858T>C - - - COL4A3_000006 - - ; clinvar; - - - LOVD
./. c.*2308T>C p.(=) - - - - r.(=) - - g.228178894T>C - - - COL4A3_000007 - - ; clinvar; - - - LOVD
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