Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28222 | chr17 | 31249117 | C | T |
c.4108C>T
|
p.Gln1370Ter
|
4.5 |
|
B | ||
| 9258 | chr17 | 31249119 | G | A |
c.4110G>A
|
p.Gln1370=
|
3.5 |
|
B | ||
| 24258 | chr17 | 31252930 | T | A |
c.4111-8T>A
|
-
|
- | 3.0 |
|
B | |
| 34697 | chr17 | 31252932 | CTGTAGG | C |
c.4111-5_4111del
|
p.?
|
- | 4.0 |
|
B | |
| 7689 | chr17 | 31258386 | GGAAGTGCCATGTTCCTCA | G |
c.4219_4236del
|
p.Ser1407_Arg1412del
|
- | 3.0 |
|
B | |
| 19108 | chr17 | 31258393 | C | T |
c.4223C>T
|
p.Ala1408Val
|
- | 3.0 |
|
B | |
| 9406 | chr17 | 31258401 | C | T |
c.4231C>T
|
p.Leu1411Phe
|
3.5 |
|
B | ||
| 29782 | chr17 | 31258446 | A | T |
c.4276A>T
|
p.Ile1426Phe
|
- | 3.0 |
|
B | |
| 21632 | chr17 | 31258450 | T | A |
c.4280T>A
|
p.Leu1427Ter
|
- | 4.0 |
|
B | |
| 23789 | chr17 | 31258476 | G | T |
c.4306G>T
|
p.Glu1436Ter
|
5.0 |
|
B | ||
| 35357 | chr17 | 31258492 | T | G |
c.4322T>G
|
p.Leu1441Ter
|
- | 4.0 |
|
B | |
| 9760 | chr17 | 31259035 | CTTCAGAG | C |
c.4338_4344del
|
p.Gln1447LeufsTer20
|
- | 4.0 |
|
B | |
| 3066 | chr17 | 31259039 | A | C |
c.4340A>C
|
p.Gln1447Pro
|
3.0 |
|
B | ||
| 9837 | chr17 | 31259068 | AAAG | A |
c.4375_4377del
|
p.Glu1459del
|
3.5 |
|
B | ||
| 4881 | chr17 | 31259071 | G | A |
c.4372G>A
|
p.Glu1458Lys
|
4.0 |
|
B | ||
| 24719 | chr17 | 31259126 | GCAGGTAATTTTCTTGCCACTTACT | G |
c.4430+1_4430+24del
|
p.?
|
- | 4.0 |
|
B | |
| 11342 | chr17 | 31260463 | CG | C |
c.4526del
|
p.Arg1509LeufsTer65
|
4.5 |
|
B | ||
| 33941 | chr17 | 31260477 | C | CA |
c.4541dup
|
p.Asn1514LysfsTer16
|
- | 4.0 |
|
B | |
| 8427 | chr17 | 31260496 | C | T |
c.4558C>T
|
p.Gln1520Ter
|
4.5 |
|
B | ||
| 7709 | chr17 | 31261709 | A | G |
c.4578-2A>G
|
p.?
|
4.5 |
|
B |