Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27679 | chr1 | 43621167 | G | A |
c.5590G>A
|
p.Val1864Met
|
3.0 |
|
B | ||
| 33682 | chr1 | 43621238 | G | A |
c.5655+6G>A
|
-
|
3.0 |
|
B | ||
| 3601 | chr1 | 44632370 | C | T |
c.934C>T
|
p.Gln312Ter
|
- | 3.0 |
|
B | |
| 32778 | chr1 | 44802807 | G | C |
c.701G>C
-
|
p.Arg234Thr
-
|
- | 3.0 |
|
B | |
| 16671 | chr1 | 44802821 | C | T |
c.715C>T
-
|
p.Pro239Ser
-
|
- | 3.0 |
|
B | |
| 17068 | chr1 | 44803082 | G | A |
c.877G>A
-
|
p.Ala293Thr
-
|
3.0 |
|
B | ||
| 7277 | chr1 | 44803388 | A | G |
c.1069A>G
-
|
p.Lys357Glu
-
|
- | 3.0 |
|
B | |
| 12143 | chr1 | 44803654 | T | A |
c.1127T>A
-
-
|
p.Met376Lys
-
-
|
3.0 |
|
B | ||
| 12144 | chr1 | 44803655 | G | A |
c.1128G>A
-
-
|
p.Met376Ile
-
-
|
- | 3.0 |
|
B | |
| 21064 | chr1 | 44804431 | C | T |
c.1435C>T
-
-
|
p.Gln479Ter
-
-
|
- | 3.0 |
|
B | |
| 27846 | chr1 | 44804646 | C | T |
c.1506-4C>T
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 31638 | chr1 | 44805380 | G | GT |
c.1749+2dup
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 3602 | chr1 | 44806519 | G | GCCT |
-
-
c.149_150insAGG
|
-
-
p.Arg50_Arg51insGly
|
- | 3.0 |
|
B | |
| 19907 | chr1 | 44822521 | AG | A |
c.3505del
|
p.Leu1169CysfsTer85
|
3.0 |
|
B | ||
| 26946 | chr1 | 44823390 | G | A |
c.3115-5C>T
|
-
|
- | 3.0 |
|
B | |
| 21994 | chr1 | 44826276 | C | T |
c.3088G>A
|
p.Val1030Ile
|
3.0 |
|
B | ||
| 7323 | chr1 | 44826615 | G | GT |
c.2848_2849insA
|
p.Pro950HisfsTer82
|
- | 3.0 |
|
B | |
| 28569 | chr1 | 44826675 | GC | G |
c.2788del
|
p.Ala930ProfsTer63
|
- | 3.0 |
|
B | |
| 27787 | chr1 | 44827384 | C | T |
c.2371+18G>A
|
-
|
2.0 |
|
B | ||
| 25278 | chr1 | 44827471 | C | T |
c.2302G>A
|
p.Ala768Thr
|
3.0 |
|
B |