Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25053 | chr6 | 156935487 | G | A |
c.2158G>A
|
p.Gly720Arg
|
3.5 |
|
B | ||
| 17161 | chr6 | 156935511 | G | C |
c.2182G>C
|
p.Ala728Pro
|
- | 3.0 |
|
B | |
| 7718 | chr6 | 157084707 | A | T |
c.2293A>T
|
p.Thr765Ser
|
- | 3.0 |
|
B | |
| 23944 | chr6 | 157084711 | T | G |
c.2297T>G
|
p.Leu766Trp
|
- | 3.0 |
|
B | |
| 17781 | chr6 | 157084818 | C | T |
c.2404C>T
|
p.Pro802Ser
|
- | 3.0 |
|
B | |
| 300 | chr6 | 157084819 | C | CG |
c.2411dup
|
p.Ser806IlefsTer27
|
5.0 |
|
A | ||
| 7564 | chr6 | 157084912 | A | C |
c.2491+7A>C
|
-
|
- | 3.5 |
|
B | |
| 18234 | chr6 | 157133066 | C | T |
c.2620C>T
|
p.Gln874Ter
|
4.0 |
|
B | ||
| 1427 | chr6 | 157148696 | GTA | G |
c.2836_2837del
|
p.Ile946GlnfsTer65
|
- | 4.0 |
|
B | |
| 10900 | chr6 | 157148937 | C | T |
c.3075C>T
|
p.Asn1025=
|
3.0 |
|
B | ||
| 33692 | chr6 | 157167205 | G | A |
c.3235+20G>A
|
-
|
2.0 |
|
B | ||
| 9518 | chr6 | 157175001 | G | A |
c.3500G>A
|
p.Ser1167Asn
|
3.0 |
|
B | ||
| 24752 | chr6 | 157184421 | A | C |
c.3905A>C
|
p.Gln1302Pro
|
- | 3.0 |
|
B | |
| 24016 | chr6 | 157184439 | A | T |
c.3919+4A>T
|
-
|
3.0 |
|
B | ||
| 301 | chr6 | 157189677 | C | T |
c.3955C>T
|
p.Gln1319Ter
|
5.0 |
|
B | ||
| 31033 | chr6 | 157189740 | T | G |
c.4018T>G
|
p.Ser1340Ala
|
- | 3.0 |
|
B | |
| 33457 | chr6 | 157190110 | G | T |
c.4131G>T
|
p.Met1377Ile
|
3.0 |
|
B | ||
| 13251 | chr6 | 157190203 | G | C |
c.4224G>C
|
p.Met1408Ile
|
- | 3.0 |
|
B | |
| 6020 | chr6 | 157196234 | AC | A |
c.4303del
|
p.Gln1435LysfsTer136
|
- | 4.0 |
|
B | |
| 17939 | chr6 | 157196284 | C | T |
c.4351C>T
|
p.Gln1451Ter
|
4.0 |
|
B |