Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
24261 chr17 48724361 GT G
-
c.-49del
-
-
-
-
3.5
B
31612 chr17 48724442 GCTC G
-
c.34_36del
-
-
p.Ser12del
-
- 3.0
B
17624 chr17 48726928 C A
c.717G>T
-
-
p.Lys239Asn
-
-
3.0
B
21012 chr17 48727037 C T
c.608G>A
-
-
p.Ser203Asn
-
-
3.0
B
32926 chr17 48727047 C T
c.602-4G>A
-
-
-
-
-
- 3.0
B
14668 chr17 48728038 C T
c.556G>A
-
p.Gly186Arg
-
3.0
B
27102 chr17 48728068 C T
c.526G>A
-
p.Gly176Ser
-
- 3.0
B
14978 chr17 48728076 G T
c.518C>A
-
p.Ala173Asp
-
- 3.0
B
12442 chr17 48728228 G A
c.366C>T
-
p.Ser122=
-
1.0
B
13308 chr17 48728260 C A
c.334G>T
-
p.Glu112Ter
-
- 3.5
B
25928 chr17 48728318 C A
c.276G>T
-
p.Val92=
-
- 3.0
B
26046 chr17 48728319 A T
c.275T>A
-
p.Val92Glu
-
- 3.0
B
22439 chr17 48728342 TCCAAAGTAA T
c.243_251del
-
p.Tyr82_Gly84del
-
- 3.0
B
17837 chr17 48728521 G A
c.73C>T
-
p.Arg25Trp
-
3.0
B
21336 chr17 48728521 G T
c.73C>A
-
p.Arg25=
-
2.0
B
4541 chr17 48797170 C T
c.803G>A
p.Arg268Gln
3.0
B
3274 chr17 48908684 G GGA
c.182_183insAG
p.Leu62AlafsTer68
- 3.0
B
10103 chr17 49600427 G C
c.1076C>G
p.Ala359Gly
- 3.0
B
22209 chr17 49607363 C G
c.724G>C
p.Glu242Gln
- 3.0
B
3038 chr17 49618977 T C
c.480+4A>G
-
3.0
B