Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33644 | chr4 | 1978831 | G | GC |
c.4028dup
-
|
p.Glu1344ArgfsTer91
-
|
2.0 |
|
B | ||
| 5755 | chr4 | 1978852 | G | C |
c.4041G>C
-
|
p.Lys1347Asn
-
|
3.0 |
|
B | ||
| 4264 | chr4 | 1978860 | G | A |
c.4049G>A
-
|
p.Gly1350Glu
-
|
3.0 |
|
B | ||
| 522 | chr4 | 1978868 | C | T |
c.4057C>T
-
|
p.Arg1353Trp
-
|
3.0 |
|
B | ||
| 5050 | chr4 | 1978887 | G | A |
c.4076G>A
-
|
p.Arg1359Gln
-
|
3.0 |
|
B | ||
| 35402 | chr4 | 2208294 | C | A |
c.407G>T
|
p.Arg136Ile
|
- | 3.0 |
|
B | |
| 11241 | chr4 | 2931951 | C | T |
-
c.803-15G>A
|
-
-
|
3.0 |
|
B | ||
| 19432 | chr4 | 3013742 | CA | C |
c.664del
|
p.Arg222GlufsTer2
|
3.0 |
|
B | ||
| 4484 | chr4 | 5466724 | C | T |
c.931C>T
|
p.Pro311Ser
|
- | 3.0 |
|
B | |
| 3391 | chr4 | 6593345 | C | T |
c.853C>T
|
p.Pro285Ser
|
- | 3.0 |
|
B | |
| 4656 | chr4 | 8454739 | C | T |
c.1132-3C>T
|
-
|
3.0 |
|
B | ||
| 3630 | chr4 | 15838155 | G | A |
c.649G>A
|
p.Asp217Asn
|
- | 3.0 |
|
B | |
| 16422 | chr4 | 15936004 | G | A |
c.629C>T
|
p.Ala210Val
|
3.0 |
|
B | ||
| 9459 | chr4 | 15936005 | C | T |
c.628G>A
|
p.Ala210Thr
|
3.0 |
|
B | ||
| 2120 | chr4 | 15936024 | C | A |
c.609G>T
|
p.Met203Ile
|
- | 3.0 |
|
B | |
| 29093 | chr4 | 15936284 | C | A |
c.349G>T
|
p.Ala117Ser
|
- | 3.0 |
|
B | |
| 35414 | chr4 | 15936496 | G | T |
c.137C>A
|
p.Thr46Asn
|
- | 3.0 |
|
B | |
| 19983 | chr4 | 15936554 | CT | C |
c.78del
|
p.Val27Ter
|
3.0 |
|
B | ||
| 23860 | chr4 | 15936600 | G | T |
c.33C>A
|
p.Phe11Leu
|
- | 3.0 |
|
B | |
| 15931 | chr4 | 15936630 | C | G |
c.3G>C
|
p.Met1?
|
- | 3.0 |
|
B |