Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29078 | chr1 | 16148678 | G | A |
c.523C>T
|
p.Arg175Cys
|
2.0 |
|
B | ||
| 23416 | chr1 | 16148738 | C | G |
c.463G>C
|
p.Asp155His
|
- | 3.0 |
|
B | |
| 24322 | chr1 | 16148757 | A | C |
c.444T>G
|
p.Asp148Glu
|
- | 3.0 |
|
B | |
| 22803 | chr1 | 16148802 | GT | G |
c.398del
|
p.Asn133ThrfsTer29
|
- | 3.0 |
|
B | |
| 10420 | chr1 | 16148857 | C | T |
c.344G>A
|
p.Cys115Tyr
|
- | 3.0 |
|
B | |
| 6066 | chr1 | 16148897 | C | CAGTAAACTTG |
c.294_303dup
|
p.Val102GlnfsTer6
|
- | 3.0 |
|
B | |
| 12017 | chr1 | 16148975 | C | T |
c.226G>A
|
p.Asp76Asn
|
3.0 |
|
B | ||
| 1755 | chr1 | 16149035 | G | A |
c.166C>T
|
p.Gln56Ter
|
3.0 |
|
B | ||
| 6647 | chr1 | 16150920 | C | T |
c.129G>A
|
p.Trp43Ter
|
- | 3.0 |
|
B | |
| 17557 | chr1 | 16150970 | G | A |
c.86-7C>T
|
-
|
- | 3.0 |
|
B | |
| 3597 | chr1 | 16565698 | A | T |
c.2999T>A
|
p.Leu1000Gln
|
1.5 |
|
B | ||
| 11237 | chr1 | 16565782 | G | A |
c.2915C>T
|
p.Ala972Val
|
3.0 |
|
B | ||
| 34497 | chr1 | 16760275 | G | C |
n.476-3C>G
|
-
|
- | 3.0 |
|
B | |
| 29129 | chr1 | 17018958 | C | T |
c.766G>A
|
p.Gly256Ser
|
- | 4.0 |
|
B | |
| 26518 | chr1 | 17022608 | C | T |
c.765G>A
|
p.Lys255=
|
- | 3.0 |
|
B | |
| 23412 | chr1 | 17022684 | C | A |
c.689G>T
|
p.Arg230Leu
|
3.5 |
|
B | ||
| 26439 | chr1 | 17023978 | T | TA |
c.636dup
|
p.Met213TyrfsTer9
|
- | 4.0 |
|
B | |
| 23404 | chr1 | 17024015 | C | T |
c.600G>A
|
p.Trp200Ter
|
4.5 |
|
B | ||
| 12858 | chr1 | 17027735 | T | C |
c.540+14A>G
|
-
|
- | 3.0 |
|
B | |
| 14120 | chr1 | 17027878 | GGAA | G |
c.424-16_424-14del
|
-
|
2.0 |
|
B |