Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23231 | chr13 | 101916606 | G | T |
c.40C>A
|
p.Arg14=
|
- | 3.0 |
|
B | |
| 4744 | chr13 | 102640334 | C | T |
c.1978C>T
|
p.Arg660Ter
|
- | 3.0 |
|
B | |
| 6728 | chr13 | 102729645 | CA | C |
c.21051del
|
p.Phe7017LeufsTer25
|
3.0 |
|
B | ||
| 2250 | chr13 | 102853849 | C | G |
c.357C>G
|
p.Ile119Met
|
- | 3.0 |
|
B | |
| 15522 | chr13 | 102854349 | C | G |
c.442C>G
|
p.Pro148Ala
|
- | 3.0 |
|
B | |
| 26003 | chr13 | 102858296 | C | G |
c.550C>G
|
p.Gln184Glu
|
3.0 |
|
B | ||
| 14684 | chr13 | 102861621 | C | G |
c.787C>G
|
p.Arg263Gly
|
- | 3.0 |
|
B | |
| 30196 | chr13 | 102862300 | C | T |
c.1151C>T
|
p.Ser384Leu
|
- | 3.0 |
|
B | |
| 29475 | chr13 | 102862375 | T | G |
c.1226T>G
|
p.Val409Gly
|
- | 3.0 |
|
B | |
| 28593 | chr13 | 102862566 | A | G |
c.1417A>G
|
p.Lys473Glu
|
- | 3.0 |
|
B | |
| 11834 | chr13 | 102862719 | C | T |
c.1570C>T
|
p.Pro524Ser
|
3.0 |
|
B | ||
| 16809 | chr13 | 102865688 | G | A |
c.1976G>A
|
p.Ser659Asn
|
3.0 |
|
B | ||
| 3225 | chr13 | 102865861 | G | T |
c.2149G>T
|
p.Ala717Ser
|
- | 3.0 |
|
B | |
| 17927 | chr13 | 102865888 | C | T |
c.2176C>T
|
p.His726Tyr
|
- | 3.0 |
|
B | |
| 1906 | chr13 | 102865913 | T | G |
c.2199+2T>G
|
p.?
|
- | 3.5 |
|
B | |
| 17646 | chr13 | 102865919 | C | T |
c.2199+8C>T
|
-
|
2.0 |
|
B | ||
| 1104 | chr13 | 102866317 | C | G |
c.2255C>G
|
p.Ala752Gly
|
- | 3.0 |
|
B | |
| 31706 | chr13 | 102866716 | C | T |
c.2404C>T
|
p.Gln802Ter
|
- | 4.0 |
|
B | |
| 2417 | chr13 | 102868199 | G | A |
c.2620G>A
|
p.Ala874Thr
|
3.0 |
|
B | ||
| 26724 | chr13 | 102868215 | A | G |
c.2636A>G
|
p.Asn879Ser
|
1.5 |
|
B |