Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6243 | chr22 | 36285677 | A | G |
c.5255T>C
|
p.Leu1752Pro
|
- | 3.0 |
|
B | |
| 11705 | chr22 | 36285925 | C | T |
c.5090G>A
|
p.Arg1697His
|
3.0 |
|
B | ||
| 16166 | chr22 | 36286717 | C | A |
c.5061+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 16167 | chr22 | 36286719 | T | C |
c.5060A>G
|
p.Glu1687Gly
|
4.0 |
|
B | ||
| 29196 | chr22 | 36288271 | T | C |
c.4913A>G
|
p.Lys1638Arg
|
3.0 |
|
B | ||
| 2138 | chr22 | 36288353 | C | T |
c.4831G>A
|
p.Ala1611Thr
|
2.5 |
|
B | ||
| 880 | chr22 | 36288744 | T | G |
c.4753A>C
|
p.Lys1585Gln
|
2.5 |
|
B | ||
| 9573 | chr22 | 36288849 | C | T |
c.4648G>A
|
p.Ala1550Thr
|
3.0 |
|
B | ||
| 22976 | chr22 | 36288946 | C | T |
c.4558-7G>A
|
-
|
- | 3.0 |
|
B | |
| 8541 | chr22 | 36288947 | C | T |
c.4558-8G>A
|
-
|
- | 3.0 |
|
B | |
| 21830 | chr22 | 36289186 | C | G |
c.4456G>C
|
p.Glu1486Gln
|
- | 3.0 |
|
B | |
| 30867 | chr22 | 36289219 | CCTT | C |
c.4420_4422del
|
p.Lys1474del
|
- | 3.0 |
|
B | |
| 8132 | chr22 | 36289240 | C | A |
c.4402G>T
|
p.Glu1468Ter
|
- | 4.0 |
|
B | |
| 34725 | chr22 | 36292169 | C | A |
c.4161G>T
|
p.Lys1387Asn
|
- | 3.0 |
|
B | |
| 21992 | chr22 | 36293372 | GCCT | G |
c.4049_4051del
|
p.Glu1350del
|
3.0 |
|
B | ||
| 23751 | chr22 | 36293405 | G | A |
c.4019C>T
|
p.Ser1340Phe
|
- | 3.0 |
|
B | |
| 8692 | chr22 | 36293477 | A | G |
c.3947T>C
|
p.Leu1316Pro
|
- | 3.0 |
|
B | |
| 30889 | chr22 | 36293790 | G | A |
c.3911C>T
|
p.Ser1304Phe
|
3.0 |
|
B | ||
| 28499 | chr22 | 36294084 | G | A |
c.3837+8C>T
|
-
|
3.0 |
|
B | ||
| 28141 | chr22 | 36294090 | A | G |
c.3837+2T>C
|
p.?
|
- | 3.5 |
|
B |