Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22653 | chr8 | 38428091 | C | T |
c.451G>A
|
p.Val151Ile
|
3.0 |
|
B | ||
| 5390 | chr8 | 38428420 | G | A |
c.374C>T
|
p.Ser125Leu
|
3.0 |
|
B | ||
| 27958 | chr8 | 38429684 | G | C |
c.356C>G
|
p.Ser119Ter
|
- | 3.0 |
|
B | |
| 26875 | chr8 | 38429768 | G | A |
c.272C>T
|
p.Ser91Phe
|
- | 3.0 |
|
B | |
| 34023 | chr8 | 38430084 | C | A |
c.92-136G>T
|
-
|
- | 3.0 |
|
B | |
| 2575 | chr8 | 38432515 | T | C |
c.92-2567A>G
|
-
|
3.0 |
|
B | ||
| 33375 | chr8 | 38436128 | C | A |
c.92-6180G>T
|
-
|
3.0 |
|
B | ||
| 5592 | chr8 | 38452441 | A | ACCTCCAC |
c.91+4914_91+4915insGTGGAGG
|
-
|
- | 3.0 |
|
B | |
| 6387 | chr8 | 38452450 | C | T |
c.91+4906G>A
|
-
|
- | 3.0 |
|
B | |
| 5827 | chr8 | 38456131 | G | A |
c.91+1225C>T
|
-
|
- | 3.0 |
|
B | |
| 951 | chr8 | 38457362 | C | T |
c.85G>A
|
p.Glu29Lys
|
- | 3.0 |
|
B | |
| 24614 | chr8 | 38457380 | GCC | G |
c.65_66del
|
p.Arg22ThrfsTer7
|
- | 3.0 |
|
B | |
| 24615 | chr8 | 38457384 | A | AT |
c.62_63insA
|
p.Arg22Ter
|
- | 3.0 |
|
B | |
| 952 | chr8 | 38457436 | C | T |
c.11G>A
|
p.Trp4Ter
|
- | 3.0 |
|
B | |
| 14397 | chr8 | 38464453 | A | G |
c.-89+3528T>C
|
-
|
- | 3.0 |
|
B | |
| 25324 | chr8 | 38465109 | A | G |
c.-89+2872T>C
|
-
|
- | 3.0 |
|
B | |
| 21398 | chr8 | 38465505 | G | C |
c.-89+2476C>G
|
-
|
- | 3.0 |
|
B | |
| 10111 | chr8 | 38465701 | C | A |
c.-89+2280G>T
|
-
|
- | 3.0 |
|
B | |
| 14462 | chr8 | 38466007 | T | C |
c.-89+1974A>G
|
-
|
- | 3.0 |
|
B | |
| 16257 | chr8 | 38466247 | C | G |
c.-89+1734G>C
|
-
|
1.0 |
|
B |