Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19204 | chr10 | 49470604 | TC | AG |
c.3355_3356delinsCT
|
p.Glu1119Leu
|
- | 3.0 |
|
B | |
| 19205 | chr10 | 49470847 | C | G |
c.3113G>C
|
p.Arg1038Thr
|
- | 3.0 |
|
B | |
| 1607 | chr10 | 49470887 | T | C |
c.3073A>G
|
p.Thr1025Ala
|
3.0 |
|
B | ||
| 17319 | chr10 | 49471104 | A | G |
c.2941T>C
|
p.Phe981Leu
|
- | 3.0 |
|
B | |
| 2364 | chr10 | 49472436 | T | G |
c.2864A>C
|
p.Lys955Thr
|
- | 3.0 |
|
B | |
| 33730 | chr10 | 49473490 | G | A |
c.2696C>T
|
p.Thr899Met
|
3.0 |
|
B | ||
| 11465 | chr10 | 49476232 | G | A |
c.2365C>T
|
p.Leu789Phe
|
- | 3.0 |
|
B | |
| 13341 | chr10 | 49476276 | T | C |
c.2321A>G
|
p.Lys774Arg
|
- | 3.0 |
|
B | |
| 32810 | chr10 | 49476318 | C | T |
c.2287-8G>A
|
-
|
2.0 |
|
B | ||
| 6374 | chr10 | 49483452 | C | A |
c.1886G>T
|
p.Arg629Leu
|
- | 3.0 |
|
B | |
| 33950 | chr10 | 49493167 | G | C |
c.1771C>G
|
p.Pro591Ala
|
3.0 |
|
B | ||
| 27474 | chr10 | 49505876 | G | A |
c.1526+8C>T
|
-
|
- | 3.0 |
|
B | |
| 11933 | chr10 | 49505892 | C | G |
c.1518G>C
|
p.Lys506Asn
|
3.0 |
|
B | ||
| 9956 | chr10 | 49505928 | G | C |
c.1482C>G
|
p.Asp494Glu
|
3.0 |
|
B | ||
| 28995 | chr10 | 49505963 | C | A |
c.1447G>T
|
p.Glu483Ter
|
- | 3.0 |
|
B | |
| 24986 | chr10 | 49515532 | C | G |
c.1397+8501G>C
|
-
|
- | 3.0 |
|
B | |
| 24987 | chr10 | 49515533 | C | A |
c.1397+8500G>T
|
-
|
3.0 |
|
B | ||
| 24913 | chr10 | 49515540 | C | G |
c.1397+8493G>C
|
-
|
- | 3.0 |
|
B | |
| 10311 | chr10 | 49515911 | G | A |
c.1397+8122C>T
|
-
|
3.0 |
|
B | ||
| 3926 | chr10 | 49516154 | T | C |
c.1397+7879A>G
|
-
|
3.0 |
|
B |