Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12197 | chr12 | 18346784 | C | T |
c.1573C>T
|
p.Leu525Phe
|
- | 3.0 |
|
B | |
| 8109 | chr12 | 18346837 | G | C |
c.1625+1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 2866 | chr12 | 18362857 | A | AT |
c.1727dup
|
p.Val578GlyfsTer5
|
- | 3.0 |
|
B | |
| 11768 | chr12 | 18381793 | C | A |
c.1908C>A
|
p.Phe636Leu
|
- | 3.0 |
|
B | |
| 5548 | chr12 | 18381821 | G | A |
c.1936G>A
|
p.Val646Ile
|
3.0 |
|
B | ||
| 7374 | chr12 | 18391246 | C | T |
c.2120C>T
|
p.Pro707Leu
|
- | 3.0 |
|
B | |
| 22468 | chr12 | 18391253 | G | T |
c.2126+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 13113 | chr12 | 18399789 | A | G |
c.2257A>G
|
p.Ile753Val
|
- | 3.0 |
|
B | |
| 10262 | chr12 | 18399822 | G | T |
c.2290G>T
|
p.Glu764Ter
|
- | 3.0 |
|
B | |
| 22913 | chr12 | 18423942 | C | T |
c.2410-3C>T
|
-
|
3.0 |
|
B | ||
| 28643 | chr12 | 18423944 | G | A |
c.2410-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 9699 | chr12 | 18488442 | C | T |
c.2505-7C>T
|
-
|
3.0 |
|
B | ||
| 10620 | chr12 | 18488473 | AG | A |
c.2530del
|
p.Ala844LeufsTer11
|
- | 3.0 |
|
B | |
| 16255 | chr12 | 18488609 | G | T |
c.2665G>T
|
p.Ala889Ser
|
- | 3.0 |
|
B | |
| 4026 | chr12 | 18491446 | C | T |
c.2686-5C>T
|
-
|
- | 3.0 |
|
B | |
| 3007 | chr12 | 18491479 | T | G |
c.2714T>G
|
p.Leu905Arg
|
3.0 |
|
B | ||
| 4254 | chr12 | 18491481 | G | C |
c.2716G>C
|
p.Glu906Gln
|
- | 3.0 |
|
B | |
| 1507 | chr12 | 18491485 | A | T |
c.2720A>T
|
p.Glu907Val
|
- | 3.0 |
|
B | |
| 30161 | chr12 | 18491536 | G | T |
c.2771G>T
|
p.Cys924Phe
|
- | 3.0 |
|
B | |
| 16606 | chr12 | 18496042 | C | T |
c.2794-20C>T
|
-
|
- | 3.0 |
|
B |