Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
29848 chr7 55200351 C T
c.2884C>T
p.Arg962Cys
3.0
B
10838 chr7 55200352 G A
c.2885G>A
p.Arg962His
2.5
B
7270 chr7 55200360 A G
c.2893A>G
p.Ile965Val
- 3.0
B
34020 chr7 55200387 G T
c.2920G>T
p.Asp974Tyr
- 3.0
B
20808 chr7 55200391 C T
c.2924C>T
p.Pro975Leu
3.0
B
23957 chr7 55201208 G T
c.2967G>T
p.Leu989Phe
- 3.0
B
10395 chr7 55201221 G T
c.2980G>T
p.Asp994Tyr
- 3.0
B
12487 chr7 55201368 T G
c.3114+13T>G
-
- 3.0
B
26425 chr7 55201726 C T
c.3115-9C>T
-
2.5
B
7240 chr7 55201759 G A
c.3139G>A
p.Val1047Met
2.5
B
6690 chr7 55201759 GT G
c.3140del
p.Val1047GlyfsTer31
- 3.0
B
23284 chr7 55201771 G C
c.3151G>C
p.Asp1051His
- 3.0
B
20998 chr7 55202499 C T
c.3163-18C>T
-
2.0
B
14850 chr7 55202507 C T
c.3163-10C>T
-
- 3.0
B
10792 chr7 55205271 C T
c.3287C>T
p.Ser1096Phe
- 3.0
B
18844 chr7 55205357 T A
c.3373T>A
p.Tyr1125Asn
- 3.0
B
21070 chr7 55205362 G T
c.3378G>T
p.Gln1126His
- 3.0
B
32024 chr7 55205453 T G
c.3469T>G
p.Trp1157Gly
- 3.0
B
24248 chr7 55205457 C T
c.3473C>T
p.Ala1158Val
3.0
B
5145 chr7 56102864 TACCGTTTGCAAGTCGGCACTGTTTCAGCACCTCATTGAAACCC T
c.405_445+2del
p.?
- 3.0
B