Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
7148 chr17 7675220 T A
c.392A>T
p.Asn131Ile
3.5
B
24029 chr17 7675222 GAGGGCA G
c.384_389del
p.Ala129_Leu130del
- 3.0
B
1780 chr17 7675223 A C
c.389T>G
p.Leu130Arg
- 3.5
B
7889 chr17 7675224 G A
c.388C>T
p.Leu130Phe
3.5
B
17245 chr17 7675224 G C
c.388C>G
p.Leu130Val
3.5
B
8868 chr17 7675227 C CAGGGGA
c.379_384dup
p.Ser127_Pro128dup
- 3.0
B
1782 chr17 7675228 AG A
c.383del
p.Pro128LeufsTer42
4.0
B
2541 chr17 7675232 G A
c.380C>T
p.Ser127Phe
4.0
B
7406 chr17 7675233 A G
c.379T>C
p.Ser127Pro
3.5
B
8846 chr17 7675234 G C
c.378C>G
p.Tyr126Ter
4.5
B
10059 chr17 7675235 T C
c.377A>G
p.Tyr126Cys
3.5
B
7100 chr17 7675236 A G
c.376T>C
p.Tyr126His
3.5
B
7188 chr17 7675237 C A
c.376-1G>T
p.?
- 4.5
B
1711 chr17 7675237 C T
c.376-1G>A
p.?
4.5
B
1218 chr17 7675238 T C
c.376-2A>G
p.?
4.5
B
13226 chr17 7675988 A G
c.375+6T>C
-
3.0
B
14540 chr17 7675992 A C
c.375+2T>G
p.?
4.0
B
9168 chr17 7675992 A T
c.375+2T>A
p.?
4.5
B
1896 chr17 7675992 AC A
c.375+1del
p.?
- 4.0
B
24738 chr17 7675993 C A
c.375+1G>T
p.?
4.0
B