Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5850 | chr17 | 7674947 | A | C |
c.584T>G
|
p.Ile195Ser
|
3.5 |
|
B | ||
| 2243 | chr17 | 7674947 | A | G |
c.584T>C
|
p.Ile195Thr
|
4.0 |
|
B | ||
| 7867 | chr17 | 7674947 | A | T |
c.584T>A
|
p.Ile195Asn
|
3.0 |
|
B | ||
| 6838 | chr17 | 7674950 | A | C |
c.581T>G
|
p.Leu194Arg
|
4.0 |
|
B | ||
| 23757 | chr17 | 7674951 | G | A |
c.580C>T
|
p.Leu194Phe
|
5.0 |
|
B | ||
| 25242 | chr17 | 7674953 | T | A |
c.578A>T
|
p.His193Leu
|
4.0 |
|
B | ||
| 907 | chr17 | 7674953 | T | C |
c.578A>G
|
p.His193Arg
|
4.0 |
|
B | ||
| 11995 | chr17 | 7674953 | T | G |
c.578A>C
|
p.His193Pro
|
4.0 |
|
B | ||
| 2899 | chr17 | 7674956 | TGAG | T |
c.572_574del
|
p.Pro191del
|
4.0 |
|
B | ||
| 2847 | chr17 | 7674957 | G | A |
c.574C>T
|
p.Gln192Ter
|
5.0 |
|
B | ||
| 6639 | chr17 | 7674961 | AG | A |
c.569del
|
p.Pro190LeufsTer57
|
4.5 |
|
B | ||
| 1404 | chr17 | 7674962 | G | A |
c.569C>T
|
p.Pro190Leu
|
4.0 |
|
B | ||
| 9085 | chr17 | 7674962 | G | C |
c.569C>G
|
p.Pro190Arg
|
3.5 |
|
B | ||
| 26557 | chr17 | 7674967 | CAGACCT | C |
c.560-2_563del
|
p.?
|
- | 4.0 |
|
B | |
| 8476 | chr17 | 7674968 | AG | A |
c.562del
|
p.Leu188TrpfsTer59
|
- | 4.0 |
|
B | |
| 22581 | chr17 | 7674972 | C | A |
c.560-1G>T
|
p.?
|
- | 4.5 |
|
B | |
| 1342 | chr17 | 7674972 | C | G |
c.560-1G>C
|
p.?
|
5.0 |
|
B | ||
| 14421 | chr17 | 7674972 | C | T |
c.560-1G>A
|
p.?
|
4.5 |
|
B | ||
| 3261 | chr17 | 7674976 | G | C |
c.560-5C>G
|
-
|
- | 3.0 |
|
B | |
| 19354 | chr17 | 7674979 | CAATCAGTGAGG | C |
c.560-19_560-9del
|
-
|
4.0 |
|
B |