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 |