Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5226 | chr18 | 59438115 | G | A |
c.983C>T
|
p.Ser328Phe
|
3.0 |
|
B | ||
| 15235 | chr18 | 59900241 | G | C |
c.58+6G>C
|
-
|
3.0 |
|
B | ||
| 13552 | chr18 | 59900565 | G | A |
c.58+330G>A
|
-
|
- | 3.0 |
|
B | |
| 23098 | chr18 | 59900581 | A | G |
c.58+346A>G
|
-
|
3.0 |
|
B | ||
| 8486 | chr18 | 59902688 | G | A |
c.100G>A
|
p.Asp34Asn
|
- | 3.0 |
|
B | |
| 4776 | chr18 | 62072676 | G | A |
c.2669C>T
|
p.Thr890Ile
|
- | 3.0 |
|
B | |
| 22681 | chr18 | 62715753 | CCGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCGGCGGCCGCGGCGGCTCTGGCGG | C |
c.80_136del
|
p.Ala27_Ala45del
|
- | 3.0 |
|
B | |
| 15213 | chr18 | 62716108 | C | T |
c.425C>T
|
p.Ser142Leu
|
3.0 |
|
B | ||
| 35034 | chr18 | 62716114 | C | T |
c.431C>T
|
p.Ser144Leu
|
- | 3.0 |
|
B | |
| 33323 | chr18 | 62716456 | G | A |
c.773G>A
|
p.Arg258Gln
|
3.0 |
|
B | ||
| 21719 | chr18 | 62716627 | G | A |
c.944G>A
|
p.Arg315His
|
3.0 |
|
B | ||
| 7325 | chr18 | 62716768 | G | C |
c.1085G>C
|
p.Arg362Pro
|
3.0 |
|
B | ||
| 15526 | chr18 | 62716837 | C | G |
c.1154C>G
|
p.Ser385Trp
|
- | 3.0 |
|
B | |
| 30517 | chr18 | 62716849 | G | T |
c.1166G>T
|
p.Gly389Val
|
- | 3.0 |
|
B | |
| 31045 | chr18 | 62830068 | T | G |
c.1610T>G
|
p.Ile537Ser
|
- | 3.0 |
|
B | |
| 35543 | chr18 | 62830100 | G | A |
c.1642G>A
|
p.Gly548Ser
|
- | 3.0 |
|
B | |
| 30803 | chr18 | 62895123 | C | G |
c.2179C>G
|
p.Arg727Gly
|
- | 3.0 |
|
B | |
| 19902 | chr18 | 62905204 | GTT | G |
c.2648-10_2648-9del
|
-
|
3.0 |
|
B | ||
| 32157 | chr18 | 62914954 | G | A |
c.2750G>A
|
p.Arg917Gln
|
3.0 |
|
B | ||
| 22399 | chr18 | 62915007 | C | T |
c.2803C>T
|
p.Arg935Cys
|
3.0 |
|
B |