Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
11556 chr17 7674180 C T
c.782+1G>A
p.?
4.0
B
5644 chr17 7674181 C A
c.782G>T
p.Ser261Ile
- 4.0
B
26749 chr17 7674182 TG T
c.780del
p.Ser261ValfsTer84
4.5
B
28060 chr17 7674187 T A
c.776A>T
p.Asp259Val
3.5
B
17460 chr17 7674188 C A
c.775G>T
p.Asp259Tyr
4.0
B
6574 chr17 7674189 T A
c.774A>T
p.Glu258Asp
4.0
B
9121 chr17 7674189 TTCCAG T
c.769_773del
p.Leu257ArgfsTer5
- 4.0
B
13000 chr17 7674190 T G
c.773A>C
p.Glu258Ala
3.5
B
32049 chr17 7674190 TC T
c.772del
p.Glu258LysfsTer87
- 5.0
B
15053 chr17 7674191 C A
c.772G>T
p.Glu258Ter
5.0
B
34404 chr17 7674191 C G
c.772G>C
p.Glu258Gln
- 3.0
B
7463 chr17 7674191 C T
c.772G>A
p.Glu258Lys
4.0
B
6139 chr17 7674193 A C
c.770T>G
p.Leu257Arg
4.0
B
2449 chr17 7674193 A T
c.770T>A
p.Leu257Gln
4.0
B
5857 chr17 7674194 G C
c.769C>G
p.Leu257Val
3.5
B
745 chr17 7674196 GTGA G
c.764_766del
p.Ile255del
4.0
B
7723 chr17 7674199 A C
c.764T>G
p.Ile255Ser
3.5
B
1744 chr17 7674199 A G
c.764T>C
p.Ile255Thr
3.5
B
32817 chr17 7674199 A T
c.764T>A
p.Ile255Asn
3.5
B
3826 chr17 7674199 ATGATGG A
c.758_763del
p.Thr253_Ile254del
- 3.0
B