Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18492 | chr8 | 68138517 | AGTAAGTAATTAG | A |
c.4087+4_4087+15del
|
-
|
- | 3.0 |
|
B | |
| 13427 | chr8 | 68146199 | A | T |
c.4088-10A>T
|
-
|
- | 3.0 |
|
B | |
| 6004 | chr8 | 68146301 | C | T |
c.4180C>T
|
p.Arg1394Trp
|
2.0 |
|
B | ||
| 753 | chr8 | 68146340 | C | T |
c.4219C>T
|
p.Leu1407Phe
|
- | 3.0 |
|
B | |
| 22535 | chr8 | 68146364 | C | G |
c.4231+12C>G
|
-
|
- | 3.0 |
|
B | |
| 23749 | chr8 | 68157340 | G | A |
c.4250G>A
|
p.Gly1417Glu
|
- | 3.0 |
|
B | |
| 10080 | chr8 | 68157382 | C | T |
c.4292C>T
|
p.Ala1431Val
|
- | 3.0 |
|
B | |
| 28137 | chr8 | 68157410 | G | T |
c.4320G>T
|
p.Lys1440Asn
|
- | 3.0 |
|
B | |
| 8199 | chr8 | 68157435 | A | C |
c.4345A>C
|
p.Arg1449=
|
- | 3.0 |
|
B | |
| 4250 | chr8 | 68192327 | T | G |
c.4414-8T>G
|
-
|
- | 3.0 |
|
B | |
| 33273 | chr8 | 68217598 | C | A |
c.4605-18C>A
|
-
|
- | 3.0 |
|
B | |
| 29983 | chr8 | 68217645 | C | T |
c.4634C>T
|
p.Ala1545Val
|
3.0 |
|
B | ||
| 32063 | chr8 | 68224569 | T | G |
c.4718T>G
|
p.Val1573Gly
|
- | 3.0 |
|
B | |
| 9114 | chr8 | 68224604 | C | T |
c.4753C>T
|
p.Arg1585Trp
|
3.0 |
|
B | ||
| 12914 | chr8 | 68231353 | C | T |
c.4796C>T
|
p.Pro1599Leu
|
2.5 |
|
B | ||
| 31910 | chr8 | 70124688 | C | A |
c.4094G>T
|
p.Ser1365Ile
|
- | 3.0 |
|
B | |
| 14714 | chr8 | 70124706 | C | T |
c.4076G>A
|
p.Gly1359Glu
|
- | 3.0 |
|
B | |
| 20232 | chr8 | 70124868 | TA | T |
c.3917-4del
|
-
|
3.0 |
|
B | ||
| 20233 | chr8 | 70124868 | TAA | T |
c.3917-5_3917-4del
|
-
|
3.0 |
|
B | ||
| 31361 | chr8 | 70126885 | T | A |
c.3844A>T
|
p.Met1282Leu
|
- | 3.0 |
|
B |