Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30453 | chr16 | 69718119 | A | G |
c.303+4T>C
|
-
|
- | 3.0 |
|
B | |
| 10385 | chr16 | 69718156 | C | G |
c.270G>C
|
p.Lys90Asn
|
3.0 |
|
B | ||
| 10491 | chr16 | 69718223 | T | C |
c.203A>G
|
p.Tyr68Cys
|
- | 3.0 |
|
B | |
| 4858 | chr16 | 70251500 | A | G |
-
c.401T>C
|
-
p.Val134Ala
|
- | 3.0 |
|
B | |
| 4290 | chr16 | 70835717 | G | A |
c.13360C>T
|
p.Gln4454Ter
|
- | 3.0 |
|
B | |
| 4289 | chr16 | 70981435 | C | T |
c.4466G>A
|
p.Gly1489Glu
|
3.0 |
|
B | ||
| 4288 | chr16 | 71285233 | G | A |
c.688C>T
|
p.His230Tyr
|
- | 3.0 |
|
B | |
| 6683 | chr16 | 72787285 | G | A |
c.10991C>T
|
p.Ser3664Phe
|
3.0 |
|
B | ||
| 27121 | chr16 | 72787387 | G | A |
c.10889C>T
|
p.Pro3630Leu
|
3.0 |
|
B | ||
| 12473 | chr16 | 72787396 | G | A |
c.10880C>T
|
p.Ala3627Val
|
- | 3.0 |
|
B | |
| 10883 | chr16 | 72787462 | G | GAC |
c.10813_10814insGT
|
p.Pro3605ArgfsTer90
|
- | 3.5 |
|
B | |
| 2338 | chr16 | 72787574 | G | A |
c.10702C>T
|
p.His3568Tyr
|
- | 3.0 |
|
B | |
| 14676 | chr16 | 72787660 | C | T |
c.10616G>A
|
p.Cys3539Tyr
|
- | 3.0 |
|
B | |
| 1193 | chr16 | 72787676 | A | T |
c.10600T>A
|
p.Cys3534Ser
|
- | 3.0 |
|
B | |
| 1194 | chr16 | 72787678 | G | GTA |
c.10597_10598insTA
|
p.Ala3533ValfsTer13
|
- | 4.0 |
|
B | |
| 6881 | chr16 | 72787694 | AGCCGCCGCCGCCGCC | A |
c.10567_10581del
|
p.Gly3523_Gly3527del
|
2.5 |
|
B | ||
| 18035 | chr16 | 72787847 | C | T |
c.10429G>A
|
p.Glu3477Lys
|
3.0 |
|
B | ||
| 8175 | chr16 | 72788060 | C | CG |
c.10215dup
|
p.Gly3406ArgfsTer25
|
4.0 |
|
B | ||
| 7844 | chr16 | 72788089 | GGCTGCTGCTGCTGCACTTTTTGCT | G |
c.10163_10186del
|
p.Gln3388_Gln3395del
|
3.0 |
|
B | ||
| 27186 | chr16 | 72788204 | C | T |
c.10072G>A
|
p.Gly3358Ser
|
- | 3.0 |
|
B |