Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25936 | chr2 | 178534010 | A | C |
c.102605T>G
|
p.Leu34202Ter
|
- | 3.0 |
|
B | |
| 17216 | chr2 | 178534053 | C | T |
c.102562G>A
|
p.Glu34188Lys
|
2.5 |
|
B | ||
| 34757 | chr2 | 178534319 | T | C |
c.102296A>G
|
p.Lys34099Arg
|
- | 3.0 |
|
B | |
| 23980 | chr2 | 178534349 | T | C |
c.102266A>G
|
p.Lys34089Arg
|
- | 3.0 |
|
B | |
| 27610 | chr2 | 178534607 | G | T |
c.102008C>A
|
p.Thr34003Lys
|
- | 3.0 |
|
B | |
| 19540 | chr2 | 178534620 | A | G |
c.101995T>C
|
p.Trp33999Arg
|
- | 3.0 |
|
B | |
| 27740 | chr2 | 178534683 | C | T |
c.101932G>A
|
p.Ala33978Thr
|
3.0 |
|
B | ||
| 28166 | chr2 | 178534841 | T | G |
c.101774A>C
|
p.Glu33925Ala
|
- | 3.0 |
|
B | |
| 31753 | chr2 | 178535136 | G | T |
c.101479C>A
|
p.Arg33827Ser
|
3.0 |
|
B | ||
| 12803 | chr2 | 178535214 | C | T |
c.101401G>A
|
p.Glu33801Lys
|
- | 3.0 |
|
B | |
| 34455 | chr2 | 178535232 | C | G |
c.101383G>C
|
p.Glu33795Gln
|
- | 3.0 |
|
B | |
| 31537 | chr2 | 178535402 | C | T |
c.101213G>A
|
p.Arg33738His
|
2.0 |
|
B | ||
| 22221 | chr2 | 178535517 | C | T |
c.101098G>A
|
p.Asp33700Asn
|
- | 3.0 |
|
B | |
| 27791 | chr2 | 178535660 | G | A |
c.100955C>T
|
p.Ser33652Leu
|
- | 3.0 |
|
B | |
| 12591 | chr2 | 178535799 | G | A |
c.100816C>T
|
p.His33606Tyr
|
- | 3.0 |
|
B | |
| 15794 | chr2 | 178535861 | A | G |
c.100766-12T>C
|
-
|
3.0 |
|
B | ||
| 15795 | chr2 | 178535862 | A | G |
c.100766-13T>C
|
-
|
3.0 |
|
B | ||
| 14181 | chr2 | 178536017 | C | T |
c.100730G>A
|
p.Gly33577Glu
|
3.0 |
|
B | ||
| 27852 | chr2 | 178536116 | C | T |
c.100631G>A
|
p.Arg33544Lys
|
- | 3.0 |
|
B | |
| 21593 | chr2 | 178536246 | C | T |
c.100501G>A
|
p.Glu33501Lys
|
- | 3.0 |
|
B |