Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12900 | chr1 | 164792644 | C | A |
c.416C>A
|
p.Ala139Glu
|
- | 3.0 |
|
B | |
| 33942 | chr1 | 164792650 | C | A |
c.422C>A
|
p.Ser141Ter
|
- | 3.0 |
|
B | |
| 14172 | chr1 | 164792712 | C | T |
c.484C>T
|
p.His162Tyr
|
- | 3.0 |
|
B | |
| 26054 | chr1 | 164792756 | G | A |
c.510+18G>A
|
-
|
- | 3.0 |
|
B | |
| 31744 | chr1 | 164799751 | G | T |
c.563G>T
|
p.Arg188Leu
|
- | 3.0 |
|
B | |
| 17980 | chr1 | 164799836 | G | C |
c.648G>C
|
p.Lys216Asn
|
- | 3.0 |
|
B | |
| 12148 | chr1 | 164807630 | G | A |
c.790G>A
|
p.Glu264Lys
|
- | 3.0 |
|
B | |
| 26413 | chr1 | 164820132 | T | A |
c.1058T>A
|
p.Leu353His
|
- | 3.0 |
|
B | |
| 21585 | chr1 | 164849335 | C | A |
c.*2659C>A
|
-
|
- | 3.0 |
|
B | |
| 3293 | chr1 | 167021805 | C | T |
c.1255C>T
|
p.Pro419Ser
|
- | 3.0 |
|
B | |
| 3508 | chr1 | 167630426 | G | A |
c.3G>A
|
p.Met1?
|
- | 3.0 |
|
B | |
| 3294 | chr1 | 167697304 | G | A |
c.680G>A
|
p.Gly227Glu
|
3.0 |
|
B | ||
| 4809 | chr1 | 169378507 | C | T |
c.646C>T
|
p.Arg216Ter
|
3.0 |
|
B | ||
| 19524 | chr1 | 170664316 | ACTT | A |
c.101_103del
|
p.Phe34del
|
3.0 |
|
B | ||
| 21586 | chr1 | 170726232 | A | G |
c.430A>G
|
p.Asn144Asp
|
- | 3.0 |
|
B | |
| 28541 | chr1 | 170726245 | A | C |
c.443A>C
|
p.Lys148Thr
|
3.0 |
|
B | ||
| 25874 | chr1 | 170726259 | G | A |
c.457G>A
|
p.Glu153Lys
|
- | 3.0 |
|
B | |
| 17563 | chr1 | 170726302 | C | T |
c.500C>T
|
p.Ser167Phe
|
- | 3.0 |
|
B | |
| 21453 | chr1 | 170726316 | G | T |
c.514G>T
|
p.Val172Leu
|
- | 3.0 |
|
B | |
| 21454 | chr1 | 170730333 | G | A |
c.599+3932G>A
|
-
|
3.0 |
|
B |