Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2291 | chr12 | 70524465 | G | A |
c.6625+6C>T
|
-
|
- | 3.0 |
|
B | |
| 17141 | chr12 | 70524486 | G | A |
c.6610C>T
|
p.Pro2204Ser
|
- | 3.0 |
|
B | |
| 651 | chr12 | 70524498 | C | G |
c.6598G>C
|
p.Glu2200Gln
|
- | 3.0 |
|
B | |
| 5134 | chr12 | 70532048 | A | ATGTGAACCC |
c.6482_6490dup
|
p.Arg2161_His2163dup
|
- | 3.0 |
|
B | |
| 3187 | chr12 | 70532064 | G | A |
c.6475C>T
|
p.Leu2159Phe
|
3.0 |
|
B | ||
| 12049 | chr12 | 70532073 | C | A |
c.6466G>T
|
p.Asp2156Tyr
|
- | 3.0 |
|
B | |
| 8417 | chr12 | 70532121 | G | A |
c.6418C>T
|
p.Gln2140Ter
|
- | 3.5 |
|
B | |
| 27167 | chr12 | 70534480 | C | T |
c.6368+8G>A
|
-
|
- | 3.0 |
|
B | |
| 18600 | chr12 | 70534524 | C | T |
c.6332G>A
|
p.Arg2111Lys
|
- | 3.0 |
|
B | |
| 26140 | chr12 | 70534603 | C | T |
c.6253G>A
|
p.Val2085Met
|
- | 3.0 |
|
B | |
| 15521 | chr12 | 70534874 | C | T |
c.6163G>A
|
p.Val2055Ile
|
3.0 |
|
B | ||
| 14692 | chr12 | 70534876 | G | A |
c.6161C>T
|
p.Ser2054Phe
|
- | 3.0 |
|
B | |
| 5956 | chr12 | 70534928 | C | A |
c.6109G>T
|
p.Asp2037Tyr
|
- | 3.0 |
|
B | |
| 34621 | chr12 | 70534930 | G | A |
c.6107C>T
|
p.Ala2036Val
|
3.0 |
|
B | ||
| 11447 | chr12 | 70534951 | T | G |
c.6086A>C
|
p.Lys2029Thr
|
- | 3.0 |
|
B | |
| 17350 | chr12 | 70536027 | G | C |
c.6079C>G
|
p.Arg2027Gly
|
- | 4.0 |
|
B | |
| 24066 | chr12 | 70538996 | G | A |
c.5797C>T
|
p.Arg1933Ter
|
4.0 |
|
B | ||
| 31786 | chr12 | 70539021 | G | T |
c.5779-7C>A
|
-
|
3.0 |
|
B | ||
| 33354 | chr12 | 70539022 | G | A |
c.5779-8C>T
|
-
|
- | 3.0 |
|
B | |
| 10363 | chr12 | 70539633 | C | T |
c.5770G>A
|
p.Glu1924Lys
|
- | 3.0 |
|
B |