Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 826 | chr12 | 45860826 | C | G |
c.4799C>G
|
p.Ala1600Gly
|
3.0 |
|
B | ||
| 33864 | chr12 | 45860850 | ACAGTTCTCAGCCT | A |
c.4824_4836del
|
p.Ser1609LeufsTer13
|
- | 4.0 |
|
B | |
| 5369 | chr12 | 45860874 | G | T |
c.4847G>T
|
p.Ser1616Ile
|
- | 3.0 |
|
B | |
| 25398 | chr12 | 45860934 | G | A |
c.4907G>A
|
p.Trp1636Ter
|
- | 4.0 |
|
B | |
| 1767 | chr12 | 45860944 | TAAAAAGTAAATGGC | T |
c.4920_4922+11del
|
p.?
|
- | 4.0 |
|
B | |
| 19664 | chr12 | 45891769 | A | AT |
c.4923-5dup
|
-
|
- | 3.0 |
|
B | |
| 7210 | chr12 | 45891787 | C | T |
c.4930C>T
|
p.Gln1644Ter
|
4.0 |
|
B | ||
| 3163 | chr12 | 45891863 | G | A |
c.5006G>A
|
p.Trp1669Ter
|
- | 4.0 |
|
B | |
| 27164 | chr12 | 45891865 | G | T |
c.5008G>T
|
p.Glu1670Ter
|
- | 4.0 |
|
B | |
| 6329 | chr12 | 45892063 | C | CA |
c.5115dup
|
p.Gly1706ArgfsTer23
|
- | 4.0 |
|
B | |
| 6673 | chr12 | 45892065 | G | T |
c.5116G>T
|
p.Gly1706Ter
|
- | 4.0 |
|
B | |
| 26254 | chr12 | 45892079 | T | G |
c.5130T>G
|
p.Ser1710Arg
|
- | 3.0 |
|
B | |
| 11477 | chr12 | 45893495 | T | TA |
c.5224dup
|
p.Met1742AsnfsTer18
|
4.0 |
|
B | ||
| 29217 | chr12 | 45893533 | G | A |
c.5261G>A
|
p.Arg1754Gln
|
- | 3.0 |
|
B | |
| 17526 | chr12 | 45893718 | G | A |
c.5360G>A
|
p.Arg1787His
|
- | 3.0 |
|
B | |
| 19718 | chr12 | 45904922 | GT | G |
c.5364-5del
|
-
|
3.0 |
|
B | ||
| 998 | chr12 | 45904939 | TAA | T |
c.5371_5372del
|
p.Lys1791GlufsTer3
|
- | 4.0 |
|
B | |
| 32570 | chr12 | 45904939 | TAAAG | T |
c.5371_5374del
|
p.Lys1791AspfsTer9
|
- | 4.0 |
|
B | |
| 4847 | chr12 | 47078701 | C | T |
c.302G>A
-
|
p.Arg101His
-
|
3.0 |
|
B | ||
| 972 | chr12 | 48065112 | CT | C |
c.1227del
|
p.Gly410ValfsTer4
|
3.0 |
|
B |