Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27419 | chr5 | 112839879 | CA | C |
c.4288del
|
p.Thr1430ProfsTer43
|
- | 4.5 |
|
B | |
| 28634 | chr5 | 112839902 | TA | T |
c.4312del
|
p.Thr1438HisfsTer35
|
- | 4.5 |
|
B | |
| 26380 | chr5 | 112839906 | AC | A |
c.4313del
|
p.Thr1438AsnfsTer35
|
- | 4.5 |
|
B | |
| 83 | chr5 | 112839921 | C | T |
c.4327C>T
|
p.Pro1443Ser
|
3.0 |
|
A | ||
| 21699 | chr5 | 112839932 | TC | T |
c.4339del
|
p.Gln1447LysfsTer26
|
4.5 |
|
B | ||
| 6757 | chr5 | 112839933 | C | G |
c.4339C>G
|
p.Gln1447Glu
|
3.0 |
|
B | ||
| 281 | chr5 | 112839933 | C | T |
c.4339C>T
|
p.Gln1447Ter
|
- | 5.0 |
|
B | |
| 282 | chr5 | 112839942 | C | T |
c.4348C>T
|
p.Arg1450Ter
|
4.67 |
|
A | ||
| 283 | chr5 | 112839978 | AAG | A |
c.4393_4394del
|
p.Ser1465TrpfsTer3
|
4.67 |
|
A | ||
| 284 | chr5 | 112839978 | AAGAG | A |
c.4391_4394del
|
p.Glu1464ValfsTer8
|
4.67 |
|
A | ||
| 6758 | chr5 | 112839994 | C | T |
c.4400C>T
|
p.Pro1467Leu
|
- | 3.0 |
|
B | |
| 9662 | chr5 | 112840018 | C | T |
c.4424C>T
|
p.Ala1475Val
|
2.5 |
|
B | ||
| 7164 | chr5 | 112840019 | AG | A |
c.4426del
|
p.Val1476PhefsTer31
|
- | 4.0 |
|
B | |
| 2165 | chr5 | 112840025 | G | GAGGGTCCAGGTTCTGA |
c.4445_4446insGAAGGGTCCAGGTTCT
|
p.Pro1483LysfsTer9
|
- | 4.0 |
|
B | |
| 5859 | chr5 | 112840026 | AG | A |
c.4435del
|
p.Val1479SerfsTer28
|
- | 4.0 |
|
B | |
| 1158 | chr5 | 112840048 | CT | C |
c.4455del
|
p.Asp1486IlefsTer21
|
- | 4.5 |
|
B | |
| 3089 | chr5 | 112840053 | AC | A |
c.4460del
|
p.Thr1487IlefsTer20
|
- | 4.0 |
|
B | |
| 285 | chr5 | 112840054 | C | CT |
c.4463dup
|
p.Leu1488PhefsTer26
|
4.67 |
|
A | ||
| 7703 | chr5 | 112840054 | C | CTT |
c.4462_4463dup
|
p.Leu1488PhefsTer20
|
- | 4.0 |
|
B | |
| 6110 | chr5 | 112840054 | CT | C |
c.4463del
|
p.Leu1488TyrfsTer19
|
4.0 |
|
B |