Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18769 | chr2 | 178536339 | C | T |
c.100408G>A
|
p.Glu33470Lys
|
- | 3.0 |
|
B | |
| 11187 | chr2 | 178536584 | C | CA |
c.100172-10dup
|
-
|
2.0 |
|
B | ||
| 22153 | chr2 | 178536924 | C | A |
c.100171+14G>T
|
-
|
- | 3.0 |
|
B | |
| 18770 | chr2 | 178537021 | T | C |
c.100088A>G
|
p.Tyr33363Cys
|
- | 3.0 |
|
B | |
| 31199 | chr2 | 178537223 | C | T |
c.99886G>A
|
p.Gly33296Arg
|
3.0 |
|
B | ||
| 22036 | chr2 | 178537773 | C | T |
c.99434G>A
|
p.Arg33145Gln
|
2.5 |
|
B | ||
| 32692 | chr2 | 178538935 | G | A |
c.98989+11C>T
|
-
|
3.0 |
|
B | ||
| 18547 | chr2 | 178539042 | C | T |
c.98893G>A
|
p.Asp32965Asn
|
2.5 |
|
B | ||
| 26259 | chr2 | 178539129 | G | A |
c.98806C>T
|
p.Arg32936Cys
|
3.0 |
|
B | ||
| 20486 | chr2 | 178539156 | A | AACC |
c.98776_98778dup
|
p.Gly32926dup
|
- | 3.0 |
|
B | |
| 28720 | chr2 | 178539519 | C | G |
c.98546G>C
|
p.Arg32849Thr
|
- | 3.0 |
|
B | |
| 14258 | chr2 | 178539655 | C | T |
c.98410G>A
|
p.Glu32804Lys
|
3.0 |
|
B | ||
| 22713 | chr2 | 178539716 | C | G |
c.98349G>C
|
p.Lys32783Asn
|
- | 3.0 |
|
B | |
| 30912 | chr2 | 178539741 | A | G |
c.98324T>C
|
p.Leu32775Pro
|
- | 3.0 |
|
B | |
| 23437 | chr2 | 178539791 | AGT | A |
c.98272_98273del
|
p.Thr32758Ter
|
- | 3.0 |
|
B | |
| 34563 | chr2 | 178539880 | TGATTGGTATG | T |
c.98175_98184del
|
p.Ile32726LysfsTer22
|
- | 3.0 |
|
B | |
| 18548 | chr2 | 178540056 | C | T |
c.98098+12G>A
|
-
|
2.5 |
|
B | ||
| 22079 | chr2 | 178540153 | G | C |
c.98013C>G
|
p.Tyr32671Ter
|
- | 3.0 |
|
B | |
| 26395 | chr2 | 178540250 | A | T |
c.97916T>A
|
p.Met32639Lys
|
- | 3.0 |
|
B | |
| 34957 | chr2 | 178540254 | C | T |
c.97912G>A
|
p.Glu32638Lys
|
3.0 |
|
B |