Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35241 | chr1 | 32363684 | T | C |
-
c.235T>C
-
|
-
p.Ser79Pro
-
|
3.0 |
|
B | ||
| 18853 | chr1 | 32364113 | C | T |
-
c.664C>T
-
|
-
p.Gln222Ter
-
|
3.0 |
|
B | ||
| 10441 | chr1 | 32680512 | CT | C |
c.*1337del
c.*818del
|
-
-
|
3.0 |
|
B | ||
| 19858 | chr1 | 32680512 | CTT | C |
c.*1336_*1337del
c.*817_*818del
|
-
-
|
3.0 |
|
B | ||
| 32068 | chr1 | 33013233 | A | G |
c.668T>C
|
p.Ile223Thr
|
3.0 |
|
B | ||
| 5147 | chr1 | 33662976 | T | G |
c.4169A>C
|
p.Asp1390Ala
|
- | 3.0 |
|
B | |
| 3599 | chr1 | 34177909 | CCCCT | C |
c.121_124del
|
p.Pro41AlafsTer21
|
- | 3.0 |
|
B | |
| 3600 | chr1 | 34177915 | C | CAGGG |
c.126_127insAGGG
|
p.Ala43ArgfsTer27
|
- | 3.0 |
|
B | |
| 29249 | chr1 | 35187981 | T | C |
c.1807A>G
|
p.Met603Val
|
3.0 |
|
B | ||
| 14535 | chr1 | 35189201 | T | A |
c.1597A>T
|
p.Asn533Tyr
|
- | 3.0 |
|
B | |
| 32556 | chr1 | 35189228 | C | T |
c.1570G>A
|
p.Glu524Lys
|
- | 3.0 |
|
B | |
| 27237 | chr1 | 35189326 | G | A |
c.1472C>T
|
p.Ser491Phe
|
3.0 |
|
B | ||
| 30041 | chr1 | 35190968 | T | C |
c.1045A>G
|
p.Lys349Glu
|
- | 3.0 |
|
B | |
| 28676 | chr1 | 35191364 | T | C |
c.994A>G
|
p.Lys332Glu
|
- | 3.0 |
|
B | |
| 26187 | chr1 | 35191471 | C | A |
c.887G>T
|
p.Arg296Leu
|
- | 3.0 |
|
B | |
| 24659 | chr1 | 35191535 | G | T |
c.829-6C>A
|
-
|
- | 3.0 |
|
B | |
| 27969 | chr1 | 35192276 | C | T |
c.774G>A
|
p.Gly258=
|
3.0 |
|
B | ||
| 22242 | chr1 | 35192447 | G | C |
c.603C>G
|
p.Gly201=
|
- | 3.0 |
|
B | |
| 20585 | chr1 | 35192557 | GCGCCCCGGGAGGGGCCGAGGTGA | G |
c.470_492del
|
p.Val157AlafsTer35
|
- | 4.0 |
|
B | |
| 13485 | chr1 | 35192569 | G | A |
c.481C>T
|
p.Pro161Ser
|
3.0 |
|
B |