Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11665 | chr1 | 26771288 | C | A |
c.3368C>A
|
p.Ser1123Tyr
|
- | 3.0 |
|
B | |
| 1184 | chr1 | 26771309 | TCCAG | T |
c.3392_3395del
|
p.Gln1131LeufsTer29
|
- | 4.0 |
|
B | |
| 14570 | chr1 | 26771346 | C | T |
c.3406+20C>T
|
-
|
- | 3.0 |
|
B | |
| 15877 | chr1 | 26772500 | CG | C |
c.3410del
|
p.Gly1137AspfsTer24
|
- | 4.0 |
|
B | |
| 7404 | chr1 | 26772572 | T | TA |
c.3482dup
|
p.Pro1162AlafsTer31
|
- | 4.0 |
|
B | |
| 3985 | chr1 | 26772611 | TC | T |
c.3524del
|
p.Pro1175HisfsTer5
|
- | 4.0 |
|
B | |
| 19501 | chr1 | 26772633 | G | A |
c.3539+1G>A
|
p.?
|
4.0 |
|
B | ||
| 13999 | chr1 | 26772880 | ATTCCATGACTCCAAACCCTGGGTATC | A |
c.3609_3634del
|
p.Asn1203LysfsTer8
|
- | 4.0 |
|
B | |
| 32689 | chr1 | 26772883 | C | T |
c.3611C>T
|
p.Ser1204Phe
|
- | 3.0 |
|
B | |
| 14000 | chr1 | 26772908 | G | C |
c.3636G>C
|
p.Gln1212His
|
- | 3.0 |
|
B | |
| 8252 | chr1 | 26772939 | C | T |
c.3667C>T
|
p.Arg1223Cys
|
3.0 |
|
B | ||
| 6864 | chr1 | 26772941 | CATGTCCT | C |
c.3673_3679del
|
p.Tyr1226GlnfsTer9
|
- | 4.0 |
|
B | |
| 18042 | chr1 | 26773361 | C | T |
c.3731C>T
|
p.Pro1244Leu
|
3.0 |
|
B | ||
| 11942 | chr1 | 26773431 | GC | G |
c.3802del
|
p.Leu1268Ter
|
- | 4.0 |
|
B | |
| 35239 | chr1 | 26773450 | G | A |
c.3820G>A
|
p.Gly1274Arg
|
- | 3.5 |
|
B | |
| 2071 | chr1 | 26773456 | C | T |
c.3826C>T
|
p.Arg1276Ter
|
- | 4.0 |
|
B | |
| 16200 | chr1 | 26773569 | A | G |
c.3867-11A>G
|
-
|
- | 3.0 |
|
B | |
| 34322 | chr1 | 26773675 | C | T |
c.3962C>T
|
p.Pro1321Leu
|
3.0 |
|
B | ||
| 7212 | chr1 | 26773684 | A | AC |
c.3977dup
|
p.Gln1327AlafsTer11
|
- | 4.0 |
|
B | |
| 17088 | chr1 | 26773710 | C | T |
c.3997C>T
|
p.Gln1333Ter
|
- | 4.0 |
|
B |