Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23117 | chr13 | 23355471 | C | A |
c.1141G>T
|
p.Glu381Ter
|
- | 3.0 |
|
B | |
| 12291 | chr13 | 23355662 | G | A |
c.950C>T
|
p.Ser317Phe
|
- | 3.0 |
|
B | |
| 32417 | chr13 | 23355818 | T | C |
c.794A>G
|
p.Asn265Ser
|
- | 3.0 |
|
B | |
| 7418 | chr13 | 23365279 | T | A |
c.346-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 32418 | chr13 | 23365291 | A | G |
c.346-14T>C
|
-
|
3.0 |
|
B | ||
| 28558 | chr13 | 23371149 | T | G |
c.188A>C
|
p.Lys63Thr
|
- | 3.0 |
|
B | |
| 1905 | chr13 | 23375105 | C | T |
c.171+14G>A
|
-
|
2.5 |
|
B | ||
| 25292 | chr13 | 23375205 | A | C |
c.85T>G
|
p.Trp29Gly
|
3.0 |
|
B | ||
| 31092 | chr13 | 23375207 | G | A |
c.83C>T
|
p.Ser28Phe
|
2.0 |
|
B | ||
| 1865 | chr13 | 23375279 | G | T |
c.21-10C>A
|
-
|
- | 3.0 |
|
B | |
| 24700 | chr13 | 23375289 | G | A |
c.21-20C>T
|
-
|
- | 3.0 |
|
B | |
| 35056 | chr13 | 23411207 | T | G |
c.20+13A>C
|
-
|
- | 3.0 |
|
B | |
| 17803 | chr13 | 24434936 | G | A |
c.4205C>T
|
p.Ser1402Leu
|
- | 3.0 |
|
B | |
| 27173 | chr13 | 24435077 | G | A |
c.4064C>T
|
p.Pro1355Leu
|
- | 3.0 |
|
B | |
| 35605 | chr13 | 24435312 | C | A |
c.3829G>T
|
p.Glu1277Ter
|
- | 3.0 |
|
B | |
| 34076 | chr13 | 24441829 | C | T |
c.3666+17G>A
|
-
|
1.0 |
|
B | ||
| 7676 | chr13 | 24441892 | G | A |
c.3620C>T
|
p.Pro1207Leu
|
- | 3.0 |
|
B | |
| 34167 | chr13 | 24447125 | T | C |
c.3176A>G
|
p.Gln1059Arg
|
2.0 |
|
B | ||
| 26537 | chr13 | 24447135 | C | T |
c.3166G>A
|
p.Val1056Ile
|
3.0 |
|
B | ||
| 35115 | chr13 | 24447156 | G | T |
c.3145C>A
|
p.Pro1049Thr
|
- | 3.0 |
|
B |