Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14716 | chr8 | 37840780 | G | A |
c.2678G>A
-
|
p.Gly893Glu
-
|
- | 3.0 |
|
B | |
| 5942 | chr8 | 37840844 | C | A |
c.2742C>A
-
|
p.Ser914Arg
-
|
- | 3.0 |
|
B | |
| 33985 | chr8 | 37840866 | C | T |
c.2747+17C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 31665 | chr8 | 37841578 | G | A |
c.3240G>A
-
|
p.Trp1080Ter
-
|
- | 3.0 |
|
B | |
| 33753 | chr8 | 37841589 | G | GC |
c.3257dup
-
|
p.Ala1087CysfsTer179
-
|
3.0 |
|
B | ||
| 32902 | chr8 | 37841806 | A | C |
c.3468A>C
-
|
p.Glu1156Asp
-
|
- | 3.0 |
|
B | |
| 30389 | chr8 | 37841826 | G | C |
c.3488G>C
-
|
p.Gly1163Ala
-
|
3.0 |
|
B | ||
| 27046 | chr8 | 37842032 | G | A |
c.3694G>A
-
|
p.Gly1232Ser
-
|
- | 3.0 |
|
B | |
| 9471 | chr8 | 37842047 | A | C |
c.3709A>C
-
|
p.Ser1237Arg
-
|
- | 3.0 |
|
B | |
| 22599 | chr8 | 37842152 | C | T |
c.3814C>T
-
|
p.Arg1272Cys
-
|
- | 3.0 |
|
B | |
| 8265 | chr8 | 37842219 | C | G |
c.3881C>G
-
|
p.Ser1294Trp
-
|
3.0 |
|
B | ||
| 21397 | chr8 | 37842290 | G | C |
c.3952G>C
-
|
p.Gly1318Arg
-
|
- | 3.0 |
|
B | |
| 25569 | chr8 | 37842319 | G | A |
c.3981G>A
-
|
p.Met1327Ile
-
|
- | 3.0 |
|
B | |
| 20044 | chr8 | 37934315 | GT | G |
c.1243del
|
p.Thr415HisfsTer2
|
3.0 |
|
B | ||
| 18721 | chr8 | 38276355 | T | G |
c.4013A>C
|
p.Lys1338Thr
|
- | 3.0 |
|
B | |
| 9185 | chr8 | 38276407 | C | T |
c.3961G>A
|
p.Glu1321Lys
|
3.0 |
|
B | ||
| 8985 | chr8 | 38276476 | C | G |
c.3892G>C
|
p.Glu1298Gln
|
- | 3.0 |
|
B | |
| 27989 | chr8 | 38278364 | C | T |
c.3809G>A
|
p.Arg1270Lys
|
- | 3.0 |
|
B | |
| 2735 | chr8 | 38279598 | C | T |
c.3702G>A
|
p.Lys1234=
|
- | 3.0 |
|
B | |
| 28461 | chr8 | 38279663 | C | T |
c.3637G>A
|
p.Gly1213Ser
|
3.0 |
|
B |