Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6386 | chr1 | 15933188 | AG | A |
c.6951del
|
p.Ser2318LeufsTer35
|
- | 4.0 |
|
B | |
| 22705 | chr1 | 15933810 | G | T |
c.7570G>T
|
p.Ala2524Ser
|
- | 3.0 |
|
B | |
| 16664 | chr1 | 15934251 | C | T |
c.8011C>T
|
p.Pro2671Ser
|
- | 3.0 |
|
B | |
| 25401 | chr1 | 15934308 | G | A |
c.8068G>A
|
p.Val2690Met
|
2.0 |
|
B | ||
| 1914 | chr1 | 15934749 | A | AT |
c.8510dup
|
p.Ala2840GlyfsTer7
|
- | 4.0 |
|
B | |
| 33569 | chr1 | 15934771 | A | T |
c.8531A>T
|
p.Asp2844Val
|
- | 3.0 |
|
B | |
| 30466 | chr1 | 15935680 | T | G |
c.9440T>G
|
p.Val3147Gly
|
- | 3.0 |
|
B | |
| 18536 | chr1 | 15937173 | C | T |
c.10037C>T
-
|
p.Pro3346Leu
-
|
- | 3.0 |
|
B | |
| 10541 | chr1 | 15937271 | C | T |
c.10135C>T
-
|
p.Gln3379Ter
-
|
- | 4.0 |
|
B | |
| 18910 | chr1 | 15937424 | T | C |
c.10288T>C
-
|
p.Ser3430Pro
-
|
- | 3.0 |
|
B | |
| 956 | chr1 | 15937891 | A | T |
c.10589A>T
-
|
p.Asn3530Ile
-
|
- | 3.0 |
|
B | |
| 12082 | chr1 | 15938005 | C | T |
c.10703C>T
-
|
p.Thr3568Met
-
|
3.0 |
|
B | ||
| 6898 | chr1 | 15938018 | A | C |
c.10704+12A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 8103 | chr1 | 15938743 | T | A |
c.10730T>A
-
|
p.Leu3577Gln
-
|
- | 3.0 |
|
B | |
| 7611 | chr1 | 15939281 | C | G |
c.10864-15C>G
-
|
-
-
|
3.0 |
|
B | ||
| 32102 | chr1 | 15939329 | G | A |
c.10897G>A
-
|
p.Glu3633Lys
-
|
- | 3.0 |
|
B | |
| 34834 | chr1 | 15944932 | C | G |
-
c.927+5G>C
|
-
-
|
- | 3.0 |
|
B | |
| 4304 | chr1 | 16129491 | T | C |
c.2768A>G
|
p.Glu923Gly
|
- | 3.0 |
|
B | |
| 2742 | chr1 | 16129576 | G | A |
c.2683C>T
|
p.Leu895Phe
|
3.0 |
|
B | ||
| 21114 | chr1 | 16130347 | TGAGCTGGTAGATG | T |
c.2535_2547del
|
p.Ile846Ter
|
- | 3.0 |
|
B |