Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22945 | chr17 | 63691095 | C | T |
c.1213-7C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 16221 | chr17 | 63691157 | G | A |
c.1268G>A
-
|
p.Arg423His
-
|
3.0 |
|
B | ||
| 19776 | chr17 | 63691162 | G | A |
c.1273G>A
-
|
p.Val425Met
-
|
3.0 |
|
B | ||
| 32322 | chr17 | 63692406 | A | G |
c.1639A>G
-
|
p.Lys547Glu
-
|
- | 3.0 |
|
B | |
| 17391 | chr17 | 63693728 | C | A |
c.1832C>A
-
|
p.Pro611His
-
|
- | 3.0 |
|
B | |
| 7046 | chr17 | 63929306 | T | G |
c.610A>C
|
p.Thr204Pro
|
- | 3.0 |
|
B | |
| 21128 | chr17 | 63929315 | T | C |
c.601A>G
|
p.Ile201Val
|
3.0 |
|
B | ||
| 30556 | chr17 | 63929421 | C | G |
c.591+13G>C
|
-
|
- | 3.0 |
|
B | |
| 7047 | chr17 | 63929438 | T | A |
c.587A>T
|
p.Tyr196Phe
|
- | 4.0 |
|
B | |
| 35612 | chr17 | 63929828 | A | T |
c.491T>A
|
p.Ile164Asn
|
- | 3.0 |
|
B | |
| 6970 | chr17 | 63930132 | C | A |
c.372G>T
|
p.Gln124His
|
- | 3.0 |
|
B | |
| 1069 | chr17 | 63930134 | G | T |
c.370C>A
|
p.Gln124Lys
|
- | 3.0 |
|
B | |
| 8691 | chr17 | 63930148 | A | T |
c.356T>A
|
p.Ile119Asn
|
- | 3.0 |
|
B | |
| 2877 | chr17 | 63930390 | G | T |
c.119-5C>A
|
-
|
3.0 |
|
B | ||
| 22391 | chr17 | 63931400 | G | A |
c.68-15C>T
|
-
|
- | 3.0 |
|
B | |
| 32356 | chr17 | 63932184 | G | A |
c.67+11C>T
|
-
|
- | 3.0 |
|
B | |
| 33294 | chr17 | 64496824 | C | G |
-
c.145G>C
|
-
p.Glu49Gln
|
3.0 |
|
B | ||
| 5958 | chr17 | 64499987 | G | A |
c.1781C>T
-
|
p.Ala594Val
-
|
3.0 |
|
B | ||
| 24011 | chr17 | 64500555 | C | T |
c.1435G>A
-
|
p.Gly479Ser
-
|
3.0 |
|
B | ||
| 25972 | chr17 | 64500613 | C | CACAG |
c.1373_1376dup
-
|
p.Leu460CysfsTer4
-
|
- | 3.0 |
|
B |