Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19238 | chr20 | 18530671 | C | T |
c.1110-9C>T
|
-
|
- | 3.0 |
|
B | |
| 13694 | chr20 | 18530762 | G | A |
c.1192G>A
|
p.Gly398Arg
|
- | 3.0 |
|
B | |
| 29862 | chr20 | 18542311 | C | T |
c.1420C>T
|
p.Pro474Ser
|
- | 3.0 |
|
B | |
| 23540 | chr20 | 18542383 | G | A |
c.1492G>A
|
p.Val498Met
|
3.0 |
|
B | ||
| 21018 | chr20 | 18542421 | C | T |
c.1511+19C>T
|
-
|
- | 3.0 |
|
B | |
| 14999 | chr20 | 18543089 | A | T |
c.1582A>T
|
p.Met528Leu
|
- | 3.0 |
|
B | |
| 24674 | chr20 | 18554234 | G | C |
c.1993-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 31006 | chr20 | 18554277 | G | T |
c.2035G>T
|
p.Glu679Ter
|
- | 3.0 |
|
B | |
| 22684 | chr20 | 18554326 | A | C |
c.2084A>C
|
p.Gln695Pro
|
- | 3.0 |
|
B | |
| 30204 | chr20 | 18555167 | G | A |
c.2208G>A
|
p.Trp736Ter
|
- | 3.0 |
|
B | |
| 4367 | chr20 | 19580076 | T | C |
c.423+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 22685 | chr20 | 20037340 | CCTTT | C |
c.1875_1878del
-
|
p.Lys626SerfsTer76
-
|
3.0 |
|
B | ||
| 15220 | chr20 | 20038423 | C | G |
c.1573G>C
-
|
p.Glu525Gln
-
|
- | 3.0 |
|
B | |
| 23888 | chr20 | 20039597 | T | G |
c.1545+12A>C
|
-
|
3.0 |
|
B | ||
| 19802 | chr20 | 20041566 | CT | C |
c.1223del
|
p.Lys408SerfsTer23
|
- | 3.0 |
|
B | |
| 22510 | chr20 | 20041600 | T | A |
c.1190A>T
|
p.Tyr397Phe
|
3.0 |
|
B | ||
| 18713 | chr20 | 20042329 | G | C |
c.1160C>G
|
p.Ala387Gly
|
- | 3.0 |
|
B | |
| 21350 | chr20 | 20042361 | C | T |
c.1128G>A
|
p.Trp376Ter
|
- | 3.0 |
|
B | |
| 27604 | chr20 | 20048406 | A | C |
-
c.392T>G
|
-
p.Val131Gly
|
- | 3.0 |
|
B | |
| 24188 | chr20 | 20049425 | C | T |
-
c.211G>A
|
-
p.Glu71Lys
|
- | 3.0 |
|
B |