Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34130 | chr12 | 114674761 | C | T |
c.1114G>A
|
p.Ala372Thr
|
3.0 |
|
B | ||
| 13793 | chr12 | 114674827 | GACATAAATCT | G |
c.1040-2_1047del
|
p.?
|
- | 3.5 |
|
B | |
| 5105 | chr12 | 114676312 | C | A |
c.1039+1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 3842 | chr12 | 114677612 | G | GA |
c.848dup
|
p.Arg284ProfsTer23
|
- | 3.5 |
|
B | |
| 32582 | chr12 | 114677618 | TTTTGC | T |
c.838_842del
|
p.Ala280ArgfsTer25
|
- | 3.5 |
|
B | |
| 2537 | chr12 | 114677629 | GGTT | G |
c.829_831del
|
p.Asn277del
|
3.0 |
|
B | ||
| 1628 | chr12 | 114677636 | GTCTATTTTTAACTGGGTTA | G |
c.806_824del
|
p.Ile269ThrfsTer28
|
- | 3.5 |
|
B | |
| 9117 | chr12 | 114677647 | A | C |
c.814T>G
|
p.Leu272Val
|
- | 3.0 |
|
B | |
| 9118 | chr12 | 114677655 | A | C |
c.806T>G
|
p.Ile269Arg
|
- | 3.0 |
|
B | |
| 12010 | chr12 | 114677660 | T | C |
c.805-4A>G
|
-
|
- | 3.0 |
|
B | |
| 10544 | chr12 | 114679507 | TATC | T |
c.799_801del
|
p.Asp267del
|
- | 3.0 |
|
B | |
| 22920 | chr12 | 114679550 | G | A |
c.759C>T
|
p.Phe253=
|
3.0 |
|
B | ||
| 7482 | chr12 | 114679555 | A | C |
c.754T>G
|
p.Leu252Val
|
- | 3.0 |
|
B | |
| 12864 | chr12 | 114679603 | T | A |
c.706A>T
|
p.Arg236Ter
|
- | 3.5 |
|
B | |
| 1568 | chr12 | 114679635 | A | G |
c.674T>C
|
p.Met225Thr
|
- | 3.0 |
|
B | |
| 26405 | chr12 | 114679930 | A | C |
c.658-279T>G
|
-
|
- | 3.0 |
|
B | |
| 26930 | chr12 | 114679934 | C | T |
c.658-283G>A
|
-
|
- | 3.0 |
|
B | |
| 9782 | chr12 | 114679956 | C | T |
c.658-305G>A
|
-
|
3.0 |
|
B | ||
| 16802 | chr12 | 114679979 | AG | A |
c.658-329del
|
-
|
- | 3.0 |
|
B | |
| 29057 | chr12 | 114680914 | TCA | T |
c.620_621del
|
p.Leu207GlnfsTer32
|
- | 4.0 |
|
B |