Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12347 | chr2 | 42303176 | C | T |
c.1714C>T
|
p.Arg572Ter
|
3.0 |
|
B | ||
| 14085 | chr2 | 42317437 | C | G |
c.2067C>G
|
p.Phe689Leu
|
- | 3.0 |
|
B | |
| 11728 | chr2 | 42317478 | T | A |
c.2108T>A
|
p.Val703Glu
|
- | 3.0 |
|
B | |
| 29013 | chr2 | 42317493 | G | A |
c.2123G>A
|
p.Gly708Glu
|
- | 3.0 |
|
B | |
| 4409 | chr2 | 42325559 | G | A |
c.2242+5G>A
|
-
|
- | 3.0 |
|
B | |
| 30303 | chr2 | 42326138 | GTTTCTAAA | G |
c.2243-12_2243-5del
|
-
|
- | 3.0 |
|
B | |
| 13832 | chr2 | 42328954 | A | G |
c.2410A>G
|
p.Ile804Val
|
- | 3.0 |
|
B | |
| 28165 | chr2 | 42329936 | T | G |
c.2675T>G
|
p.Val892Gly
|
- | 3.0 |
|
B | |
| 2351 | chr2 | 42330010 | A | C |
c.2749A>C
|
p.Ser917Arg
|
- | 3.0 |
|
B | |
| 8631 | chr2 | 42330019 | C | T |
c.2758C>T
|
p.Pro920Ser
|
3.0 |
|
B | ||
| 2560 | chr2 | 43224454 | C | CG |
c.1349dup
|
p.Asp451GlyfsTer23
|
- | 3.5 |
|
B | |
| 25216 | chr2 | 43224464 | G | GGGGGCGCGTC |
c.1330_1339dup
|
p.Pro447ArgfsTer30
|
- | 3.5 |
|
B | |
| 19293 | chr2 | 43224544 | C | T |
c.1260G>A
|
p.Gly420=
|
3.0 |
|
B | ||
| 4435 | chr2 | 43224544 | CCCGGCGGGGAGGGTCGCGCTGGGCGGCG | C |
c.1232_1259del
|
p.Ala411GlyfsTer41
|
3.5 |
|
B | ||
| 6268 | chr2 | 43224600 | CCTG | C |
c.1201_1203del
|
p.Gln401del
|
2.5 |
|
B | ||
| 28822 | chr2 | 43224624 | TGCGGTAGTAG | T |
c.1170_1179del
|
p.Tyr391ValfsTer67
|
- | 3.5 |
|
B | |
| 32228 | chr2 | 43224680 | G | A |
c.1124C>T
|
p.Pro375Leu
|
- | 3.0 |
|
B | |
| 27011 | chr2 | 43224756 | ACGGGGCCCCCGGCGCCAGCAGGTCCT | A |
c.1022_1047del
|
p.Glu341ValfsTer124
|
3.5 |
|
B | ||
| 2205 | chr2 | 43224757 | CG | C |
c.1046del
|
p.Pro349ArgfsTer112
|
- | 3.5 |
|
B | |
| 2206 | chr2 | 43224762 | C | A |
c.1042G>T
|
p.Ala348Ser
|
3.0 |
|
B |