Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27576 | chr1 | 237809023 | C | G |
c.14421C>G
|
p.Asp4807Glu
|
- | 3.0 |
|
B | |
| 30170 | chr1 | 237819150 | T | C |
c.14548T>C
|
p.Phe4850Leu
|
- | 3.0 |
|
B | |
| 29434 | chr1 | 237828383 | C | G |
c.14593C>G
|
p.Leu4865Val
|
3.0 |
|
B | ||
| 32259 | chr1 | 237828411 | G | C |
c.14621G>C
|
p.Arg4874Thr
|
- | 3.0 |
|
B | |
| 17201 | chr1 | 237832561 | G | A |
c.14818G>A
|
p.Val4940Ile
|
3.0 |
|
B | ||
| 4815 | chr1 | 237882832 | C | CA |
c.1404dup
|
p.Asp469Ter
|
- | 3.0 |
|
B | |
| 5151 | chr1 | 240207698 | A | AGGAATACCTCCTCCACCCCCTCTACCCGGAGCG |
c.2888_2889insAATACCTCCTCCACCCCCTCTACCCGGAGCGGG
|
p.Pro955_Pro965dup
|
2.0 |
|
B | ||
| 25532 | chr1 | 241497961 | T | A |
c.1400A>T
|
p.Lys467Met
|
- | 3.0 |
|
B | |
| 11804 | chr1 | 241500455 | C | T |
c.1372G>A
|
p.Ala458Thr
|
- | 3.0 |
|
B | |
| 29841 | chr1 | 241504102 | G | A |
c.1048C>T
|
p.Arg350Trp
|
3.0 |
|
B | ||
| 8236 | chr1 | 241504189 | G | C |
c.961C>G
|
p.Leu321Val
|
3.0 |
|
B | ||
| 33667 | chr1 | 241504209 | G | C |
c.941C>G
|
p.Ala314Gly
|
3.0 |
|
B | ||
| 20830 | chr1 | 241506181 | G | A |
c.739-13C>T
|
-
|
- | 3.0 |
|
B | |
| 33515 | chr1 | 241508643 | C | T |
c.698G>A
|
p.Arg233His
|
3.5 |
|
B | ||
| 16683 | chr1 | 241508662 | G | A |
c.679C>T
|
p.Gln227Ter
|
4.0 |
|
B | ||
| 4948 | chr1 | 241508792 | G | A |
c.556-7C>T
|
-
|
2.0 |
|
B | ||
| 8879 | chr1 | 241512007 | T | C |
c.515A>G
|
p.Lys172Arg
|
- | 3.0 |
|
B | |
| 29581 | chr1 | 241517173 | G | A |
c.267+9C>T
|
-
|
- | 3.0 |
|
B | |
| 19036 | chr1 | 241517225 | G | T |
c.224C>A
|
p.Ser75Tyr
|
- | 3.0 |
|
B | |
| 4408 | chr1 | 241517302 | G | A |
c.147C>T
|
p.Ser49=
|
- | 3.0 |
|
B |