Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22974 | chr22 | 20995014 | C | T |
c.1930C>T
-
|
p.Pro644Ser
-
|
- | 3.0 |
|
B | |
| 10271 | chr22 | 20995739 | C | T |
c.1943-7C>T
-
|
-
-
|
2.5 |
|
B | ||
| 10272 | chr22 | 20995740 | C | T |
c.1943-6C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 32712 | chr22 | 20996000 | G | A |
c.2107G>A
-
|
p.Asp703Asn
-
|
3.0 |
|
B | ||
| 1909 | chr22 | 20996109 | C | T |
c.2216C>T
-
|
p.Ser739Leu
-
|
3.0 |
|
B | ||
| 15251 | chr22 | 20996804 | AGCCCCCCAGCCCCGT | A |
c.2325+6_2325+20del
-
|
-
-
|
- | 3.0 |
|
B | |
| 19126 | chr22 | 20996927 | G | T |
c.2367G>T
-
|
p.Lys789Asn
-
|
- | 3.0 |
|
B | |
| 3341 | chr22 | 21445022 | G | A |
c.127G>A
|
p.Gly43Ser
|
- | 3.0 |
|
B | |
| 13310 | chr22 | 21769282 | C | A |
c.1005G>T
|
p.Leu335Phe
|
- | 3.0 |
|
B | |
| 10236 | chr22 | 21772875 | C | T |
c.964G>A
|
p.Glu322Lys
|
4.0 |
|
B | ||
| 4928 | chr22 | 21788367 | TGTGATGG | T |
c.739_745del
|
p.Pro247LysfsTer4
|
- | 3.0 |
|
B | |
| 18038 | chr22 | 21799124 | C | A |
c.497G>T
|
p.Cys166Phe
|
- | 3.0 |
|
B | |
| 14253 | chr22 | 21799133 | G | C |
c.493-5C>G
|
-
|
- | 3.0 |
|
B | |
| 13016 | chr22 | 21805852 | T | G |
c.490A>C
|
p.Lys164Gln
|
- | 3.0 |
|
B | |
| 2194 | chr22 | 21807734 | A | G |
c.232T>C
|
p.Phe78Leu
|
- | 3.0 |
|
B | |
| 4711 | chr22 | 21867395 | C | A |
c.46G>T
|
p.Gly16Trp
|
3.0 |
|
B | ||
| 6527 | chr22 | 21867418 | CCCG | C |
c.20_22del
|
p.Ala7del
|
2.5 |
|
B | ||
| 26839 | chr22 | 22548323 | C | A |
c.1274G>T
|
p.Ser425Ile
|
- | 3.0 |
|
B | |
| 21495 | chr22 | 22548577 | C | T |
c.1020G>A
|
p.Met340Ile
|
2.5 |
|
B | ||
| 21897 | chr22 | 22548599 | C | T |
c.998G>A
|
p.Arg333Gln
|
3.0 |
|
B |