Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20268 | chr1 | 92837554 | G | A |
-
c.626G>A
|
-
p.Arg209His
|
3.0 |
|
B | ||
| 17935 | chr1 | 92837619 | G | GT |
-
c.692dup
|
-
p.Thr232AsnfsTer10
|
4.0 |
|
B | ||
| 33248 | chr1 | 92837619 | G | GTT |
-
c.692_693insTT
|
-
p.Thr232Ter
|
- | 4.0 |
|
B | |
| 10480 | chr1 | 92840552 | TGGA | T |
-
c.712_714del
|
-
p.Glu238del
|
3.0 |
|
B | ||
| 19363 | chr1 | 92840649 | CT | C |
-
c.794+19del
|
-
-
|
3.0 |
|
B | ||
| 11262 | chr1 | 93201958 | TA | T |
c.774del
|
p.Val259TrpfsTer15
|
3.0 |
|
B | ||
| 4473 | chr1 | 94025009 | C | T |
c.4579G>A
|
p.Asp1527Asn
|
- | 3.0 |
|
B | |
| 4623 | chr1 | 94899371 | C | T |
-
c.648G>A
|
-
p.Gln216=
|
- | 3.0 |
|
B | |
| 4345 | chr1 | 95148784 | C | T |
c.238C>T
|
p.Pro80Ser
|
3.0 |
|
B | ||
| 859 | chr1 | 97079037 | G | A |
c.3017C>T
|
p.Ser1006Phe
|
- | 3.0 |
|
B | |
| 12793 | chr1 | 97079156 | G | A |
c.2908-10C>T
|
-
|
- | 3.0 |
|
B | |
| 8134 | chr1 | 97082404 | C | G |
c.2833G>C
|
p.Val945Leu
|
- | 3.0 |
|
B | |
| 25703 | chr1 | 97082411 | C | A |
c.2826G>T
|
p.Glu942Asp
|
- | 3.0 |
|
B | |
| 8913 | chr1 | 97098488 | C | T |
c.2766+1G>A
|
p.?
|
3.0 |
|
B | ||
| 12667 | chr1 | 97098515 | G | A |
c.2740C>T
|
p.Pro914Ser
|
- | 3.0 |
|
B | |
| 12068 | chr1 | 97193076 | A | T |
c.2615T>A
|
p.Met872Lys
|
- | 3.0 |
|
B | |
| 9720 | chr1 | 97193088 | A | G |
c.2603T>C
|
p.Ile868Thr
|
- | 3.0 |
|
B | |
| 3995 | chr1 | 97193143 | C | T |
c.2548G>A
|
p.Asp850Asn
|
3.0 |
|
B | ||
| 30061 | chr1 | 97193185 | C | T |
c.2506G>A
|
p.Ala836Thr
|
- | 3.0 |
|
B | |
| 26546 | chr1 | 97234896 | C | T |
c.2398G>A
|
p.Glu800Lys
|
- | 3.0 |
|
B |