Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33843 | chr1 | 158613887 | A | G |
c.6843-20T>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 25962 | chr1 | 158615203 | A | G |
c.6788+13T>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 6984 | chr1 | 158615248 | C | A |
c.6756G>T
-
|
p.Met2252Ile
-
|
- | 3.0 |
|
B | |
| 21995 | chr1 | 158615258 | C | A |
c.6746G>T
-
|
p.Gly2249Val
-
|
- | 3.0 |
|
B | |
| 18889 | chr1 | 158615262 | G | T |
c.6742C>A
-
|
p.Leu2248Ile
-
|
- | 3.0 |
|
B | |
| 6175 | chr1 | 158615268 | A | C |
c.6736T>G
-
|
p.Tyr2246Asp
-
|
- | 3.0 |
|
B | |
| 33995 | chr1 | 158615291 | A | G |
c.6713T>C
-
|
p.Leu2238Ser
-
|
- | 3.0 |
|
B | |
| 9648 | chr1 | 158615377 | C | T |
c.6627G>A
-
|
p.Met2209Ile
-
|
3.0 |
|
B | ||
| 17126 | chr1 | 158617572 | T | C |
c.6565A>G
|
p.Thr2189Ala
|
- | 3.0 |
|
B | |
| 21779 | chr1 | 158619278 | C | T |
c.6474G>A
|
p.Met2158Ile
|
- | 3.0 |
|
B | |
| 29415 | chr1 | 158619343 | C | T |
c.6418-9G>A
|
-
|
3.0 |
|
B | ||
| 10681 | chr1 | 158619344 | C | A |
c.6418-10G>T
|
-
|
- | 3.0 |
|
B | |
| 8045 | chr1 | 158620166 | T | G |
c.6417+4A>C
|
-
|
- | 3.0 |
|
B | |
| 1147 | chr1 | 158620205 | C | T |
c.6382G>A
|
p.Glu2128Lys
|
- | 3.0 |
|
B | |
| 25485 | chr1 | 158620251 | T | G |
c.6336A>C
|
p.Leu2112Phe
|
- | 3.0 |
|
B | |
| 3877 | chr1 | 158620281 | C | A |
c.6306G>T
|
p.Leu2102Phe
|
- | 3.0 |
|
B | |
| 24434 | chr1 | 158620387 | G | A |
c.6200C>T
|
p.Ser2067Leu
|
- | 3.0 |
|
B | |
| 3233 | chr1 | 158620391 | A | T |
c.6196T>A
|
p.Leu2066Met
|
- | 3.0 |
|
B | |
| 29012 | chr1 | 158620397 | C | A |
c.6190G>T
|
p.Glu2064Ter
|
- | 3.0 |
|
B | |
| 32003 | chr1 | 158620425 | AG | A |
c.6161del
|
p.Ala2054ValfsTer2
|
- | 3.0 |
|
B |