Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
28348 chr7 55172997 C G
c.1934C>G
p.Ser645Cys
3.0
B
35471 chr7 55173057 G A
c.1994G>A
p.Gly665Asp
- 3.0
B
15580 chr7 55173057 G C
c.1994G>C
p.Gly665Ala
- 3.0
B
25817 chr7 55173083 G T
c.2020G>T
p.Val674Phe
3.0
B
8811 chr7 55173086 C T
c.2023C>T
p.Arg675Trp
3.0
B
18878 chr7 55174012 T A
c.2153T>A
p.Leu718Gln
- 3.5
B
314 chr7 55174015 G A
c.2156G>A
p.Gly719Asp
4.33
A
18950 chr7 55174062 G A
c.2184+19G>A
-
1.5
B
15936 chr7 55174761 G A
c.2224G>A
p.Val742Ile
2.0
B
315 chr7 55174771 AGGAATTAAGAGAAGC A
c.2235_2249del
p.Glu746_Ala750del
4.67
A
8510 chr7 55174772 GGAATTAAGAGAA G
c.2237_2248del
p.Glu746_Glu749del
- 3.5
B
316 chr7 55174772 GGAATTAAGAGAAGCA G
c.2236_2250del
p.Glu746_Ala750del
4.67
A
9827 chr7 55174776 TTAAGAGAAGCAACATCTC T
c.2240_2257del
p.Leu747_Pro753delinsSer
4.5
B
600 chr7 55174794 C T
c.2257C>T
p.Pro753Ser
3.5
B
11042 chr7 55174808 G T
c.2271G>T
p.Lys757Asn
- 3.0
B
9280 chr7 55174809 G A
c.2272G>A
p.Glu758Lys
3.0
B
2728 chr7 55181309 C CCAGCGTGGA
c.2303_2311dup
p.Ser768_Asp770dup
4.0
B
317 chr7 55181312 G T
c.2303G>T
p.Ser768Ile
4.33
A
2626 chr7 55181317 G GACA
c.2311_2313dup
p.Asn771dup
- 3.5
B
318 chr7 55181317 G GACAACCCCC
c.2311_2319dup
p.Asn771_His773dup
3.67
A