Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18337 | chr18 | 45063627 | C | T |
c.4720C>T
|
p.Pro1574Ser
|
- | 3.0 |
|
B | |
| 2373 | chr18 | 45063670 | G | A |
c.4763G>A
|
p.Arg1588Gln
|
- | 3.0 |
|
B | |
| 10632 | chr18 | 45063684 | G | A |
c.4777G>A
|
p.Glu1593Lys
|
- | 3.0 |
|
B | |
| 4453 | chr18 | 46704668 | G | A |
c.132-4C>T
|
-
|
- | 3.0 |
|
B | |
| 3458 | chr18 | 47034579 | G | A |
c.686C>T
c.52-11878G>A
|
p.Ser229Leu
-
|
3.0 |
|
B | ||
| 15273 | chr18 | 47130338 | GA | G |
c.311-11del
|
-
|
3.0 |
|
B | ||
| 21895 | chr18 | 47841838 | T | C |
c.1393A>G
|
p.Ser465Gly
|
- | 3.0 |
|
B | |
| 34107 | chr18 | 47841840 | G | C |
c.1391C>G
|
p.Ser464Ter
|
- | 4.5 |
|
B | |
| 8061 | chr18 | 47841852 | G | C |
c.1379C>G
|
p.Ser460Ter
|
- | 4.0 |
|
B | |
| 25109 | chr18 | 47841881 | G | C |
c.1350C>G
|
p.Asp450Glu
|
- | 3.0 |
|
B | |
| 30003 | chr18 | 47845275 | A | C |
c.1280+65T>G
|
-
|
- | 3.0 |
|
B | |
| 9446 | chr18 | 47845695 | C | T |
c.1103G>A
|
p.Trp368Ter
|
- | 4.0 |
|
B | |
| 8659 | chr18 | 47845704 | C | T |
c.1094G>A
|
p.Arg365Lys
|
- | 3.0 |
|
B | |
| 12693 | chr18 | 47845795 | C | T |
c.1003G>A
|
p.Gly335Arg
|
- | 3.0 |
|
B | |
| 25777 | chr18 | 47848459 | G | A |
c.997+16C>T
|
-
|
- | 3.0 |
|
B | |
| 5840 | chr18 | 47848542 | C | A |
c.930G>T
|
p.Arg310Ser
|
- | 3.5 |
|
B | |
| 12078 | chr18 | 47848542 | C | G |
c.930G>C
|
p.Arg310Ser
|
- | 3.0 |
|
B | |
| 18689 | chr18 | 47848573 | T | C |
c.899A>G
|
p.Asp300Gly
|
- | 3.0 |
|
B | |
| 12767 | chr18 | 47865048 | AT | A |
c.730+10del
|
-
|
2.0 |
|
B | ||
| 24021 | chr18 | 47865121 | G | T |
c.668C>A
|
p.Pro223His
|
- | 3.0 |
|
B |