Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
27798 chr17 7673559 CAGTGG C
c.964_968del
p.Pro322GlyfsTer13
- 4.0
B
8274 chr17 7673578 TGG T
c.948_949del
p.Gln317AlafsTer19
- 4.0
B
2876 chr17 7673579 G A
c.949C>T
p.Gln317Ter
4.5
B
10454 chr17 7673580 GGGAGAGGA G
c.940_947del
p.Ser314ProfsTer20
- 4.0
B
2023 chr17 7673582 G GA
c.945dup
p.Pro316SerfsTer21
- 3.5
B
22106 chr17 7673600 TG T
c.927del
p.Asn310ThrfsTer35
3.5
B
15039 chr17 7673609 C G
c.920-1G>C
p.?
4.5
B
9730 chr17 7673609 C T
c.920-1G>A
p.?
4.5
B
10292 chr17 7673610 T A
c.920-2A>T
p.?
- 4.0
B
7879 chr17 7673610 T C
c.920-2A>G
p.?
4.5
B
14291 chr17 7673610 TAGGAAAGAGGCA T
c.920-14_920-3del
-
3.0
B
7773 chr17 7673615 AAGAGGCAAGGAAAGGTGATAAAAGTG A
c.920-33_920-8del
-
- 3.5
B
8470 chr17 7673699 A C
c.919+2T>G
p.?
5.0
B
3377 chr17 7673699 A T
c.919+2T>A
p.?
4.0
B
11076 chr17 7673700 C A
c.919+1G>T
p.?
4.0
B
1125 chr17 7673700 C T
c.919+1G>A
p.?
4.5
B
2778 chr17 7673704 G A
c.916C>T
p.Arg306Ter
4.0
B
13097 chr17 7673717 TG T
c.902del
p.Pro301GlnfsTer44
4.5
B
7071 chr17 7673722 GC G
c.897del
p.Pro301GlnfsTer44
- 4.5
B
2555 chr17 7673723 C CA
c.896dup
p.Pro300AlafsTer6
- 4.0
B