Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25803 | chr3 | 179203524 | G | T |
c.814-20G>T
|
-
|
- | 3.0 |
|
B | |
| 1915 | chr3 | 179203710 | T | A |
c.980T>A
|
p.Leu327His
|
- | 3.0 |
|
B | |
| 6945 | chr3 | 179203727 | G | A |
c.997G>A
|
p.Ala333Thr
|
- | 3.0 |
|
B | |
| 182 | chr3 | 179203761 | T | G |
c.1031T>G
|
p.Val344Gly
|
4.67 |
|
A | ||
| 8217 | chr3 | 179203764 | A | C |
c.1034A>C
|
p.Asn345Thr
|
4.0 |
|
B | ||
| 183 | chr3 | 179203764 | A | G |
c.1034A>G
|
p.Asn345Ser
|
- | 3.67 |
|
A | |
| 184 | chr3 | 179203765 | T | A |
c.1035T>A
|
p.Asn345Lys
|
4.33 |
|
A | ||
| 1535 | chr3 | 179203778 | G | A |
c.1048G>A
|
p.Asp350Asn
|
3.5 |
|
B | ||
| 24051 | chr3 | 179204533 | G | A |
c.1090G>A
|
p.Gly364Arg
|
4.5 |
|
B | ||
| 24073 | chr3 | 179204536 | G | A |
c.1093G>A
|
p.Glu365Lys
|
4.0 |
|
B | ||
| 9460 | chr3 | 179204576 | G | T |
c.1133G>T
|
p.Cys378Phe
|
- | 3.5 |
|
B | |
| 46 | chr3 | 179209622 | A | G |
c.1173A>G
|
p.Ile391Met
|
1.0 |
|
B | ||
| 45 | chr3 | 179210186 | G | A |
c.1252G>A
|
p.Glu418Lys
|
4.0 |
|
A | ||
| 4682 | chr3 | 179210187 | AACACTGTCC | A |
c.1255_1263del
|
p.His419_Pro421del
|
- | 3.0 |
|
B | |
| 1434 | chr3 | 179210191 | CTGTCCA | C |
c.1259_1264del
|
p.Cys420_Pro421del
|
- | 3.0 |
|
B | |
| 185 | chr3 | 179210192 | T | C |
c.1258T>C
|
p.Cys420Arg
|
4.67 |
|
A | ||
| 33572 | chr3 | 179210289 | TAGA | T |
c.1359_1361del
|
p.Glu453del
|
4.5 |
|
B | ||
| 25079 | chr3 | 179210290 | AGAAGATTTG | A |
c.1357_1365del
|
p.Glu453_Leu455del
|
- | 4.0 |
|
B | |
| 44 | chr3 | 179210291 | G | A |
c.1357G>A
|
p.Glu453Lys
|
4.67 |
|
A | ||
| 14592 | chr3 | 179210291 | G | C |
c.1357G>C
|
p.Glu453Gln
|
3.0 |
|
B |