Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5643 | chr1 | 198754279 | C | T |
c.3520C>T
|
p.Gln1174Ter
|
- | 4.0 |
|
B | |
| 2027 | chr1 | 198754325 | C | T |
c.3566C>T
|
p.Ala1189Val
|
3.0 |
|
B | ||
| 6840 | chr1 | 198754354 | C | A |
c.3595C>A
|
p.Gln1199Lys
|
- | 3.0 |
|
B | |
| 9399 | chr1 | 198754373 | G | A |
c.3614G>A
|
p.Arg1205His
|
3.0 |
|
B | ||
| 3872 | chr1 | 198754404 | C | T |
c.3645C>T
|
p.Phe1215=
|
4.0 |
|
B | ||
| 2908 | chr1 | 198755902 | C | G |
c.3646-4C>G
|
-
|
- | 3.0 |
|
B | |
| 14435 | chr1 | 198755943 | C | A |
c.3683C>A
|
p.Thr1228Asn
|
- | 3.0 |
|
B | |
| 11931 | chr1 | 198755945 | T | A |
c.3685T>A
|
p.Tyr1229Asn
|
- | 3.0 |
|
B | |
| 30233 | chr1 | 198756005 | G | A |
c.3745G>A
|
p.Asp1249Asn
|
3.0 |
|
B | ||
| 5352 | chr1 | 198756146 | G | A |
c.3886G>A
|
p.Gly1296Ser
|
3.0 |
|
B | ||
| 4406 | chr1 | 198756173 | G | A |
c.3913G>A
|
p.Gly1305Ser
|
- | 3.0 |
|
B | |
| 21115 | chr1 | 201039950 | C | A |
c.5503G>T
|
p.Gly1835Ter
|
- | 3.0 |
|
B | |
| 17059 | chr1 | 201040358 | G | A |
c.5243C>T
|
p.Ser1748Phe
|
3.0 |
|
B | ||
| 30168 | chr1 | 201040678 | C | T |
c.5170G>A
|
p.Gly1724Arg
|
3.0 |
|
B | ||
| 32729 | chr1 | 201040698 | G | A |
c.5150C>T
|
p.Pro1717Leu
|
- | 3.0 |
|
B | |
| 25607 | chr1 | 201041496 | G | A |
c.5134+8C>T
|
-
|
2.0 |
|
B | ||
| 25238 | chr1 | 201047168 | G | A |
c.4615C>T
|
p.Arg1539Cys
|
1.0 |
|
B | ||
| 32219 | chr1 | 201047183 | G | A |
c.4600C>T
|
p.Arg1534Trp
|
3.0 |
|
B | ||
| 27205 | chr1 | 201047201 | G | A |
c.4582C>T
|
p.Leu1528Phe
|
3.0 |
|
B | ||
| 35468 | chr1 | 201047643 | G | A |
c.4442-17C>T
|
-
|
- | 3.0 |
|
B |