Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28603 | chr11 | 67428561 | G | A |
-
c.16G>A
|
-
p.Asp6Asn
|
- | 3.0 |
|
B | |
| 12372 | chr11 | 67428582 | G | A |
-
c.37G>A
|
-
p.Glu13Lys
|
- | 3.0 |
|
B | |
| 9043 | chr11 | 67428591 | G | C |
-
c.46G>C
|
-
p.Glu16Gln
|
- | 3.0 |
|
B | |
| 10777 | chr11 | 67428624 | G | C |
-
c.78+1G>C
|
-
p.?
|
- | 3.0 |
|
B | |
| 22059 | chr11 | 67428994 | CTTGCCGAG | C |
-
c.95_102del
|
-
p.Ala32GlufsTer12
|
- | 3.0 |
|
B | |
| 17022 | chr11 | 67429552 | G | A |
-
c.266G>A
|
-
p.Gly89Asp
|
- | 3.0 |
|
B | |
| 9044 | chr11 | 67432620 | C | G |
-
c.478C>G
-
|
-
p.Leu160Val
-
|
- | 3.0 |
|
B | |
| 29796 | chr11 | 67432969 | G | A |
-
c.634G>A
-
|
-
p.Asp212Asn
-
|
3.0 |
|
B | ||
| 5423 | chr11 | 67433436 | C | G |
-
c.895C>G
-
|
-
p.Leu299Val
-
|
- | 3.0 |
|
B | |
| 26480 | chr11 | 67434034 | C | G |
-
c.946C>G
-
|
-
p.Pro316Ala
-
|
- | 3.0 |
|
B | |
| 6621 | chr11 | 67434198 | A | G |
-
c.970A>G
-
|
-
p.Arg324Gly
-
|
- | 3.0 |
|
B | |
| 21278 | chr11 | 67434247 | G | T |
-
c.1019G>T
-
|
-
p.Arg340Leu
-
|
- | 3.0 |
|
B | |
| 2981 | chr11 | 67434701 | AGGGACGTGGG | A |
-
c.1268+10_1268+19del
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 741 | chr11 | 67434997 | A | G |
-
c.1277A>G
-
|
-
p.Lys426Arg
-
|
- | 3.0 |
|
B | |
| 3127 | chr11 | 67435070 | C | G |
-
c.1350C>G
-
|
-
p.Leu450=
-
|
- | 3.0 |
|
B | |
| 8245 | chr11 | 67435146 | G | A |
-
c.1426G>A
-
|
-
p.Gly476Ser
-
|
- | 3.0 |
|
B | |
| 16784 | chr11 | 67435153 | G | A |
-
c.1433G>A
-
|
-
p.Gly478Glu
-
|
3.0 |
|
B | ||
| 33212 | chr11 | 67435889 | C | T |
c.*2487G>A
-
c.465G>A
|
-
-
p.Thr155=
|
3.0 |
|
B | ||
| 21525 | chr11 | 67489435 | T | C |
-
c.448T>C
|
-
p.Phe150Leu
|
3.0 |
|
B | ||
| 25310 | chr11 | 67489470 | C | G |
-
c.468+15C>G
|
-
-
|
- | 3.0 |
|
B |