Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14960 | chr14 | 104772924 | C | T |
c.1126G>A
|
p.Ala376Thr
|
- | 3.0 |
|
B | |
| 16470 | chr14 | 104773082 | T | A |
c.968A>T
|
p.Asp323Val
|
- | 3.0 |
|
B | |
| 14961 | chr14 | 104773395 | C | T |
c.829-16G>A
|
-
|
- | 3.0 |
|
B | |
| 16213 | chr14 | 104774040 | G | A |
c.634-60C>T
|
-
|
3.0 |
|
B | ||
| 7132 | chr14 | 104774939 | G | A |
c.632C>T
|
p.Thr211Ile
|
- | 3.0 |
|
B | |
| 30704 | chr14 | 104774957 | G | C |
c.614C>G
|
p.Ser205Cys
|
3.0 |
|
B | ||
| 18461 | chr14 | 104775206 | G | A |
c.437C>T
|
p.Thr146Ile
|
3.0 |
|
B | ||
| 21536 | chr14 | 104775783 | C | T |
c.304G>A
|
p.Ala102Thr
|
- | 3.0 |
|
B | |
| 21866 | chr14 | 104776666 | C | T |
c.280G>A
|
p.Glu94Lys
|
3.0 |
|
B | ||
| 34533 | chr14 | 104776706 | C | T |
c.240G>A
|
p.Trp80Ter
|
- | 3.0 |
|
B | |
| 5456 | chr14 | 104776711 | G | T |
c.235C>A
|
p.Gln79Lys
|
3.5 |
|
B | ||
| 1778 | chr14 | 104776716 | C | A |
c.230G>T
|
p.Cys77Phe
|
- | 3.0 |
|
B | |
| 634 | chr14 | 104780141 | C | T |
c.122G>A
|
p.Arg41Gln
|
3.0 |
|
B | ||
| 25480 | chr14 | 104780181 | G | C |
c.82C>G
|
p.Leu28Val
|
- | 3.0 |
|
B | |
| 1508 | chr14 | 104780214 | C | T |
c.49G>A
|
p.Glu17Lys
|
4.5 |
|
B | ||
| 19096 | chr14 | 104780228 | C | T |
c.47-12G>A
|
-
|
2.0 |
|
B | ||
| 28666 | chr14 | 104792601 | G | C |
c.43C>G
|
p.Arg15Gly
|
- | 3.0 |
|
B | |
| 5211 | chr14 | 104883448 | C | T |
c.991C>T
|
p.Pro331Ser
|
3.0 |
|
B | ||
| 4854 | chr14 | 104932274 | C | A |
-
c.1240C>A
|
-
p.Pro414Thr
|
3.0 |
|
B | ||
| 4529 | chr14 | 105150626 | C | T |
c.1580G>A
|
p.Gly527Asp
|
3.0 |
|
B |