Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7767 | chr12 | 40284136 | A | C |
c.2500+3A>C
|
-
|
- | 3.0 |
|
B | |
| 19663 | chr12 | 40287550 | TA | T |
c.2689+20del
|
-
|
2.5 |
|
B | ||
| 10029 | chr12 | 40293602 | T | G |
c.2747T>G
|
p.Phe916Cys
|
3.0 |
|
B | ||
| 26385 | chr12 | 40294918 | A | C |
c.2878+4A>C
|
-
|
- | 3.0 |
|
B | |
| 2676 | chr12 | 40295445 | C | T |
c.2897C>T
|
p.Ser966Phe
|
- | 3.0 |
|
B | |
| 32967 | chr12 | 40295597 | GAGCTTCACC | G |
c.3052_3060del
|
p.Leu1018_Gln1020del
|
- | 3.0 |
|
B | |
| 5659 | chr12 | 40298346 | G | T |
c.3200G>T
|
p.Arg1067Leu
|
- | 3.0 |
|
B | |
| 2030 | chr12 | 40298405 | C | G |
c.3259C>G
|
p.Gln1087Glu
|
- | 3.0 |
|
B | |
| 34036 | chr12 | 40299102 | T | C |
c.3348-7T>C
|
-
|
- | 3.0 |
|
B | |
| 5991 | chr12 | 40299109 | A | G |
c.3348A>G
|
p.Gly1116=
|
- | 3.0 |
|
B | |
| 4277 | chr12 | 40299186 | C | T |
c.3425C>T
|
p.Ser1142Leu
|
- | 3.0 |
|
B | |
| 32041 | chr12 | 40302860 | G | T |
c.3568G>T
|
p.Glu1190Ter
|
- | 3.0 |
|
B | |
| 16494 | chr12 | 40302875 | C | T |
c.3583C>T
|
p.Leu1195Phe
|
- | 3.0 |
|
B | |
| 24064 | chr12 | 40302886 | A | C |
c.3590+4A>C
|
-
|
- | 3.0 |
|
B | |
| 16797 | chr12 | 40303998 | C | T |
c.3641C>T
|
p.Pro1214Leu
|
- | 3.0 |
|
B | |
| 1667 | chr12 | 40304132 | G | A |
c.3775G>A
|
p.Glu1259Lys
|
3.0 |
|
B | ||
| 2242 | chr12 | 40304155 | TA | T |
c.3777+27del
|
-
|
3.0 |
|
B | ||
| 16976 | chr12 | 40305767 | CT | C |
c.3778-10del
|
-
|
3.0 |
|
B | ||
| 5963 | chr12 | 40305845 | GAACTAAGATCCTTTCCCAA | G |
c.3839_3857del
|
p.Glu1280ValfsTer6
|
- | 3.0 |
|
B | |
| 1180 | chr12 | 40305857 | T | C |
c.3850T>C
|
p.Phe1284Leu
|
- | 3.0 |
|
B |