Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31233 | chr1 | 3396511 | G | C |
c.594G>C
|
p.Lys198Asn
|
- | 3.0 |
|
B | |
| 18763 | chr1 | 3396593 | G | A |
c.676G>A
|
p.Glu226Lys
|
3.0 |
|
B | ||
| 22237 | chr1 | 3404719 | G | A |
c.885-20G>A
|
-
|
- | 3.0 |
|
B | |
| 12138 | chr1 | 3404729 | C | T |
c.885-10C>T
|
-
|
2.0 |
|
B | ||
| 22543 | chr1 | 3404735 | G | A |
c.885-4G>A
|
-
|
2.0 |
|
B | ||
| 24405 | chr1 | 3404750 | A | C |
c.896A>C
|
p.His299Pro
|
- | 3.0 |
|
B | |
| 12869 | chr1 | 3405600 | G | A |
c.1138G>A
|
p.Gly380Ser
|
3.0 |
|
B | ||
| 22238 | chr1 | 3411636 | A | C |
c.1439A>C
|
p.His480Pro
|
- | 3.0 |
|
B | |
| 26041 | chr1 | 3411795 | C | T |
c.1598C>T
|
p.Ser533Leu
|
3.0 |
|
B | ||
| 33194 | chr1 | 3411998 | G | A |
c.1801G>A
|
p.Gly601Ser
|
3.0 |
|
B | ||
| 30561 | chr1 | 3412144 | TGGGGGCGGCTTGGCGCCCCCGGGGGCCCC | T |
c.1949_1977del
|
p.Gly650GlufsTer115
|
- | 3.0 |
|
B | |
| 21258 | chr1 | 3412166 | G | T |
c.1969G>T
|
p.Gly657Trp
|
- | 3.0 |
|
B | |
| 19358 | chr1 | 3412660 | GC | G |
c.2467del
|
p.Arg823AlafsTer48
|
- | 3.0 |
|
B | |
| 19440 | chr1 | 3412676 | G | A |
c.2479G>A
|
p.Val827Ile
|
2.5 |
|
B | ||
| 19445 | chr1 | 3412751 | C | T |
c.2554C>T
|
p.Pro852Ser
|
- | 3.0 |
|
B | |
| 33432 | chr1 | 3412752 | C | T |
c.2555C>T
|
p.Pro852Leu
|
3.0 |
|
B | ||
| 13313 | chr1 | 3412820 | C | T |
c.2603+20C>T
|
-
|
1.5 |
|
B | ||
| 22239 | chr1 | 3414657 | C | T |
c.2691+10C>T
|
-
|
3.0 |
|
B | ||
| 22451 | chr1 | 3425563 | C | A |
c.2940-18C>A
|
-
|
- | 3.0 |
|
B | |
| 19447 | chr1 | 3425565 | C | T |
c.2940-16C>T
|
-
|
2.0 |
|
B |