Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22247 | chr1 | 170736040 | C | T |
c.600-8C>T
|
-
|
- | 3.0 |
|
B | |
| 4475 | chr1 | 171193428 | G | A |
c.226G>A
|
p.Glu76Lys
|
- | 3.0 |
|
B | |
| 33783 | chr1 | 172659211 | C | T |
c.10C>T
|
p.Pro4Ser
|
- | 3.0 |
|
B | |
| 25564 | chr1 | 172659410 | C | G |
c.209C>G
|
p.Pro70Arg
|
2.0 |
|
B | ||
| 13770 | chr1 | 172659459 | GT | G |
c.263del
|
p.Phe88SerfsTer8
|
3.0 |
|
B | ||
| 29433 | chr1 | 172659472 | C | G |
c.271C>G
|
p.Leu91Val
|
- | 3.0 |
|
B | |
| 21587 | chr1 | 172659517 | C | T |
c.316C>T
|
p.His106Tyr
|
3.0 |
|
B | ||
| 31798 | chr1 | 172659533 | T | A |
c.332T>A
|
p.Leu111Gln
|
- | 3.0 |
|
B | |
| 27092 | chr1 | 172660081 | T | A |
c.349-14T>A
|
-
|
- | 3.0 |
|
B | |
| 25090 | chr1 | 172665633 | T | G |
c.463T>G
|
p.Ser155Ala
|
- | 3.0 |
|
B | |
| 3380 | chr1 | 175406579 | C | T |
c.136G>A
|
p.Glu46Lys
|
- | 3.0 |
|
B | |
| 24744 | chr1 | 175945183 | A | G |
c.2179-13T>C
|
-
|
3.0 |
|
B | ||
| 31085 | chr1 | 175989429 | C | G |
c.1780G>C
|
p.Val594Leu
|
- | 3.0 |
|
B | |
| 6266 | chr1 | 175989452 | C | T |
c.1757G>A
|
p.Arg586His
|
3.0 |
|
B | ||
| 6169 | chr1 | 176043239 | T | G |
c.1559A>C
|
p.Asp520Ala
|
- | 3.0 |
|
B | |
| 21742 | chr1 | 176043688 | TGTAACTA | T |
c.1530+15_1530+21del
|
-
|
- | 3.0 |
|
B | |
| 3109 | chr1 | 176043768 | T | C |
c.1472A>G
|
p.Tyr491Cys
|
- | 3.0 |
|
B | |
| 3978 | chr1 | 176081213 | G | A |
c.1216C>T
|
p.Arg406Ter
|
- | 3.5 |
|
B | |
| 14173 | chr1 | 176081279 | G | A |
c.1150C>T
|
p.Arg384Ter
|
3.5 |
|
B | ||
| 13134 | chr1 | 176085757 | A | G |
c.1141+19T>C
|
-
|
- | 3.0 |
|
B |