Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 261 | chr5 | 112839165 | C | T |
c.3571C>T
|
p.Gln1191Ter
|
4.67 |
|
A | ||
| 7128 | chr5 | 112839181 | CATTCTCAAAGAGTTCAT | C |
c.3588_3604del
|
p.Phe1197TrpfsTer5
|
- | 4.0 |
|
B | |
| 32222 | chr5 | 112839212 | T | TAAAACCGAACATATGTCTTC |
c.3621_3640dup
|
p.Ser1214LysfsTer58
|
- | 4.0 |
|
B | |
| 31266 | chr5 | 112839310 | G | A |
c.3716G>A
|
p.Arg1239Lys
|
3.0 |
|
B | ||
| 9433 | chr5 | 112839386 | AG | A |
c.3793del
|
p.Glu1265LysfsTer23
|
- | 4.0 |
|
B | |
| 5437 | chr5 | 112839398 | AAT | A |
c.3807_3808del
|
p.Ile1269MetfsTer6
|
4.0 |
|
B | ||
| 262 | chr5 | 112839439 | C | A |
c.3845C>A
|
p.Ser1282Ter
|
- | 5.0 |
|
A | |
| 22039 | chr5 | 112839444 | G | T |
c.3850G>T
|
p.Glu1284Ter
|
4.5 |
|
B | ||
| 5967 | chr5 | 112839450 | G | T |
c.3856G>T
|
p.Glu1286Ter
|
- | 4.5 |
|
B | |
| 10605 | chr5 | 112839456 | G | A |
c.3862G>A
|
p.Gly1288Arg
|
3.0 |
|
B | ||
| 33201 | chr5 | 112839465 | C | T |
c.3871C>T
|
p.Gln1291Ter
|
4.5 |
|
B | ||
| 263 | chr5 | 112839474 | C | T |
c.3880C>T
|
p.Gln1294Ter
|
4.67 |
|
A | ||
| 2358 | chr5 | 112839477 | G | T |
c.3883G>T
|
p.Glu1295Ter
|
- | 4.0 |
|
B | |
| 7204 | chr5 | 112839490 | C | T |
c.3896C>T
|
p.Ala1299Val
|
3.0 |
|
B | ||
| 28089 | chr5 | 112839501 | C | T |
c.3907C>T
|
p.Gln1303Ter
|
- | 4.5 |
|
B | |
| 32232 | chr5 | 112839501 | CA | C |
c.3910del
|
p.Ile1304Ter
|
- | 4.0 |
|
B | |
| 2216 | chr5 | 112839508 | CA | C |
c.3915del
|
p.Glu1306LysfsTer2
|
- | 3.5 |
|
B | |
| 4246 | chr5 | 112839510 | G | GA |
c.3919dup
|
p.Ile1307AsnfsTer8
|
- | 4.0 |
|
B | |
| 264 | chr5 | 112839510 | G | T |
c.3916G>T
|
p.Glu1306Ter
|
4.67 |
|
A | ||
| 265 | chr5 | 112839514 | TAAAAG | T |
c.3927_3931del
|
p.Glu1309AspfsTer4
|
4.67 |
|
A |