Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29284 | chr1 | 198708207 | A | C |
c.979A>C
|
p.Asn327His
|
3.0 |
|
B | ||
| 12458 | chr1 | 198708266 | G | A |
c.1033+5G>A
|
-
|
- | 3.5 |
|
B | |
| 17197 | chr1 | 198709667 | G | A |
c.1034-20G>A
|
-
|
2.0 |
|
B | ||
| 25355 | chr1 | 198709821 | G | T |
c.1168G>T
|
p.Gly390Trp
|
- | 3.0 |
|
B | |
| 7608 | chr1 | 198713046 | T | G |
c.1265T>G
|
p.Phe422Cys
|
- | 3.0 |
|
B | |
| 7955 | chr1 | 198713049 | C | A |
c.1268C>A
|
p.Thr423Asn
|
- | 3.0 |
|
B | |
| 8242 | chr1 | 198716819 | C | A |
c.1429C>A
|
p.His477Asn
|
- | 3.0 |
|
B | |
| 13366 | chr1 | 198718206 | A | T |
c.1563A>T
|
p.Glu521Asp
|
- | 3.0 |
|
B | |
| 13082 | chr1 | 198718208 | T | A |
c.1565T>A
|
p.Val522Asp
|
- | 3.0 |
|
B | |
| 12084 | chr1 | 198718208 | T | G |
c.1565T>G
|
p.Val522Gly
|
- | 3.0 |
|
B | |
| 30730 | chr1 | 198722413 | C | T |
c.1660-3C>T
|
-
|
3.0 |
|
B | ||
| 33196 | chr1 | 198729129 | T | C |
c.1830-8T>C
|
-
|
- | 3.0 |
|
B | |
| 15446 | chr1 | 198732285 | C | T |
c.1975-15C>T
|
-
|
3.0 |
|
B | ||
| 23622 | chr1 | 198732286 | G | A |
c.1975-14G>A
|
-
|
2.0 |
|
B | ||
| 33879 | chr1 | 198732335 | G | T |
c.2010G>T
|
p.Lys670Asn
|
- | 3.0 |
|
B | |
| 10819 | chr1 | 198732370 | G | A |
c.2045G>A
|
p.Arg682His
|
- | 3.0 |
|
B | |
| 10280 | chr1 | 198734204 | A | T |
c.2151A>T
|
p.Lys717Asn
|
- | 3.0 |
|
B | |
| 26562 | chr1 | 198734372 | G | A |
c.2224G>A
|
p.Glu742Lys
|
3.0 |
|
B | ||
| 5611 | chr1 | 198734409 | G | T |
c.2261G>T
|
p.Cys754Phe
|
- | 3.0 |
|
B | |
| 29543 | chr1 | 198734441 | A | T |
c.2277+16A>T
|
-
|
3.0 |
|
B |