Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 89 | chr1 | 26773716 | C | T |
c.4003C>T
|
p.Arg1335Ter
|
4.67 |
|
A | ||
| 90 | chr1 | 26773801 | G | A |
c.4005-1G>A
|
p.?
|
- | 4.0 |
|
A | |
| 1772 | chr1 | 26773821 | C | T |
c.4024C>T
|
p.Gln1342Ter
|
- | 4.0 |
|
B | |
| 28377 | chr1 | 26773879 | TG | T |
c.4083del
|
p.Met1361IlefsTer120
|
- | 4.0 |
|
B | |
| 13720 | chr1 | 26773917 | A | G |
c.4101+19A>G
|
-
|
- | 3.0 |
|
B | |
| 2143 | chr1 | 26774398 | G | T |
c.4171G>T
|
p.Val1391Leu
|
- | 3.0 |
|
B | |
| 6190 | chr1 | 26774428 | C | T |
c.4201C>T
|
p.Gln1401Ter
|
- | 4.0 |
|
B | |
| 21670 | chr1 | 26774473 | C | T |
c.4246C>T
|
p.Gln1416Ter
|
- | 4.0 |
|
B | |
| 20703 | chr1 | 26774515 | C | T |
c.4288C>T
|
p.Gln1430Ter
|
- | 4.0 |
|
B | |
| 9952 | chr1 | 26774576 | GC | G |
c.4354del
|
p.Gln1452ArgfsTer29
|
- | 4.0 |
|
B | |
| 6364 | chr1 | 26774608 | C | T |
c.4381C>T
|
p.Arg1461Ter
|
- | 4.0 |
|
B | |
| 19847 | chr1 | 26774625 | AC | A |
c.4403del
|
p.Pro1468LeufsTer13
|
- | 4.5 |
|
B | |
| 28237 | chr1 | 26774725 | G | A |
c.4498G>A
|
p.Gly1500Arg
|
- | 3.0 |
|
B | |
| 5288 | chr1 | 26774767 | A | C |
c.4540A>C
|
p.Thr1514Pro
|
- | 3.0 |
|
B | |
| 5320 | chr1 | 26774770 | G | T |
c.4543G>T
|
p.Gly1515Cys
|
- | 3.0 |
|
B | |
| 1613 | chr1 | 26774776 | GC | G |
c.4555del
|
p.Gln1519ArgfsTer8
|
- | 4.0 |
|
B | |
| 91 | chr1 | 26774809 | C | T |
c.4582C>T
|
p.Arg1528Ter
|
- | 4.67 |
|
A | |
| 27547 | chr1 | 26774817 | TGAAA | T |
c.4591_4594del
|
p.Glu1531CysfsTer33
|
- | 4.0 |
|
B | |
| 11799 | chr1 | 26774818 | G | T |
c.4591G>T
|
p.Glu1531Ter
|
- | 4.0 |
|
B | |
| 31324 | chr1 | 26774836 | C | T |
c.4609C>T
|
p.Gln1537Ter
|
- | 5.0 |
|
B |