Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16753 | chr7 | 128841530 | G | A |
c.2084G>A
|
p.Arg695His
|
2.0 |
|
B | ||
| 32202 | chr7 | 128842215 | TG | T |
c.2122-13del
|
-
|
- | 3.0 |
|
B | |
| 34979 | chr7 | 128842291 | T | A |
c.2182T>A
|
p.Cys728Ser
|
- | 3.0 |
|
B | |
| 33062 | chr7 | 128842312 | C | T |
c.2203C>T
|
p.Pro735Ser
|
- | 3.0 |
|
B | |
| 30361 | chr7 | 128842587 | G | A |
c.2278G>A
|
p.Glu760Lys
|
2.5 |
|
B | ||
| 24417 | chr7 | 128842587 | GAGGGCAGCCACCCCGAGCGGGTAA | G |
c.2282_2305del
|
p.Gly761_Lys768del
|
- | 3.0 |
|
B | |
| 25948 | chr7 | 128842600 | C | T |
c.2291C>T
|
p.Pro764Leu
|
- | 3.0 |
|
B | |
| 11605 | chr7 | 128842626 | G | A |
c.2317G>A
|
p.Gly773Arg
|
3.0 |
|
B | ||
| 19270 | chr7 | 128842819 | C | G |
c.2415C>G
|
p.Cys805Trp
|
- | 3.0 |
|
B | |
| 34207 | chr7 | 128843428 | A | T |
c.2662A>T
|
p.Thr888Ser
|
- | 3.0 |
|
B | |
| 12952 | chr7 | 128843431 | C | T |
c.2665C>T
|
p.His889Tyr
|
- | 3.0 |
|
B | |
| 29322 | chr7 | 128843878 | A | G |
c.2894A>G
|
p.Asp965Gly
|
- | 3.0 |
|
B | |
| 15743 | chr7 | 128844097 | G | A |
c.3023G>A
|
p.Arg1008His
|
2.5 |
|
B | ||
| 21274 | chr7 | 128844166 | C | A |
c.3092C>A
|
p.Pro1031Gln
|
2.0 |
|
B | ||
| 24561 | chr7 | 128844171 | G | A |
c.3097G>A
|
p.Glu1033Lys
|
- | 3.0 |
|
B | |
| 25156 | chr7 | 128844226 | C | T |
c.3152C>T
|
p.Pro1051Leu
|
3.0 |
|
B | ||
| 32353 | chr7 | 128844250 | C | A |
c.3176C>A
|
p.Pro1059His
|
- | 3.0 |
|
B | |
| 26806 | chr7 | 128844279 | G | A |
c.3192+13G>A
|
-
|
- | 3.0 |
|
B | |
| 29361 | chr7 | 128844637 | ACAACCTGCCTCTTCCCCTAGGTCTGTGCTTATGGCCCGGGTCTCAAGGGTGGACTGGTAGG | A |
c.3193-18_3235del
|
p.?
|
- | 3.0 |
|
B | |
| 27736 | chr7 | 128844659 | T | C |
c.3194T>C
|
p.Val1065Ala
|
- | 3.0 |
|
B |