Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17631 | chr17 | 80353053 | C | T |
c.10417C>T
|
p.Pro3473Ser
|
- | 3.0 |
|
B | |
| 16839 | chr17 | 80353652 | C | T |
c.10564C>T
|
p.Leu3522Phe
|
- | 3.0 |
|
B | |
| 12206 | chr17 | 80354004 | C | T |
c.10579-15C>T
|
-
|
3.0 |
|
B | ||
| 28505 | chr17 | 80354551 | G | A |
c.10837G>A
|
p.Ala3613Thr
|
3.0 |
|
B | ||
| 17595 | chr17 | 80361782 | G | A |
c.11249G>A
|
p.Arg3750Lys
|
- | 3.0 |
|
B | |
| 15569 | chr17 | 80361878 | A | T |
c.11345A>T
|
p.Glu3782Val
|
- | 3.0 |
|
B | |
| 17395 | chr17 | 80363604 | C | T |
c.11569-5C>T
|
-
|
- | 3.0 |
|
B | |
| 31024 | chr17 | 80363641 | G | A |
c.11601G>A
|
p.Thr3867=
|
3.0 |
|
B | ||
| 32066 | chr17 | 80363677 | C | G |
c.11637C>G
|
p.Pro3879=
|
- | 3.0 |
|
B | |
| 22394 | chr17 | 80367995 | G | A |
c.12007G>A
|
p.Asp4003Asn
|
- | 3.0 |
|
B | |
| 18503 | chr17 | 80371890 | GATTAT | G |
c.12446_12450del
|
p.Tyr4149SerfsTer15
|
- | 3.0 |
|
B | |
| 16840 | chr17 | 80372620 | C | T |
c.12637C>T
|
p.Arg4213Trp
|
2.5 |
|
B | ||
| 27562 | chr17 | 80372627 | G | A |
c.12644G>A
|
p.Arg4215Gln
|
3.0 |
|
B | ||
| 34245 | chr17 | 80372962 | G | C |
c.12752-13G>C
|
-
|
3.0 |
|
B | ||
| 32478 | chr17 | 80374596 | TG | T |
c.13074+10del
|
-
|
- | 3.0 |
|
B | |
| 24671 | chr17 | 80376879 | C | T |
c.13429-3C>T
|
-
|
- | 3.0 |
|
B | |
| 29302 | chr17 | 80380996 | C | G |
c.13797+9C>G
|
-
|
- | 3.0 |
|
B | |
| 22635 | chr17 | 80385028 | C | T |
c.14323-11C>T
|
-
|
- | 3.0 |
|
B | |
| 23188 | chr17 | 80386251 | T | G |
c.14541T>G
|
p.Gly4847=
|
- | 3.0 |
|
B | |
| 16383 | chr17 | 80386900 | G | C |
c.14922+9G>C
|
-
|
3.0 |
|
B |