Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21950 | chr5 | 112792446 | C | T |
c.646C>T
|
p.Arg216Ter
|
4.5 |
|
B | ||
| 9906 | chr5 | 112792464 | C | A |
c.664C>A
|
p.Gln222Lys
|
- | 3.0 |
|
B | |
| 3032 | chr5 | 112792483 | T | TA |
c.684dup
|
p.Leu229ThrfsTer23
|
- | 4.0 |
|
B | |
| 235 | chr5 | 112792494 | C | T |
c.694C>T
|
p.Arg232Ter
|
4.67 |
|
A | ||
| 236 | chr5 | 112792506 | C | T |
c.706C>T
|
p.Gln236Ter
|
4.67 |
|
A | ||
| 237 | chr5 | 112801283 | C | A |
c.734C>A
|
p.Ser245Ter
|
4.67 |
|
A | ||
| 20940 | chr5 | 112801293 | CAAGCATG | C |
c.747_753del
|
p.His250ProfsTer41
|
- | 4.0 |
|
B | |
| 15476 | chr5 | 112815476 | TA | T |
c.835-17del
|
-
|
- | 3.0 |
|
B | |
| 238 | chr5 | 112815487 | A | G |
c.835-8A>G
|
-
|
4.33 |
|
A | ||
| 28027 | chr5 | 112815491 | T | G |
c.835-4T>G
|
-
|
2.5 |
|
B | ||
| 2239 | chr5 | 112815494 | G | A |
c.835-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 4892 | chr5 | 112815497 | T | C |
c.837T>C
|
p.Gly279=
|
- | 3.0 |
|
B | |
| 11529 | chr5 | 112815501 | A | T |
c.841A>T
|
p.Thr281Ser
|
3.0 |
|
B | ||
| 239 | chr5 | 112815507 | C | T |
c.847C>T
|
p.Arg283Ter
|
4.67 |
|
A | ||
| 240 | chr5 | 112815547 | GCA | G |
c.893_894del
|
p.His298LeufsTer28
|
4.67 |
|
A | ||
| 241 | chr5 | 112815564 | C | T |
c.904C>T
|
p.Arg302Ter
|
4.67 |
|
A | ||
| 28315 | chr5 | 112815583 | T | TG |
c.926dup
|
p.Thr310AsnfsTer17
|
- | 4.0 |
|
B | |
| 21515 | chr5 | 112819043 | G | A |
c.1011G>A
|
p.Met337Ile
|
3.0 |
|
B | ||
| 242 | chr5 | 112819104 | C | T |
c.1072C>T
|
p.Gln358Ter
|
4.67 |
|
A | ||
| 1098 | chr5 | 112819150 | C | T |
c.1118C>T
|
p.Ser373Phe
|
3.0 |
|
B |