Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26971 | chr14 | 23422322 | C | T |
c.3103G>A
|
p.Glu1035Lys
|
- | 3.0 |
|
B | |
| 24384 | chr14 | 23423590 | G | T |
c.3056C>A
|
p.Thr1019Asn
|
3.0 |
|
B | ||
| 18860 | chr14 | 23423678 | C | A |
c.2968G>T
|
p.Ala990Ser
|
- | 3.0 |
|
B | |
| 35455 | chr14 | 23423994 | ATCT | A |
c.2832_2834del
|
p.Glu944del
|
- | 3.0 |
|
B | |
| 24853 | chr14 | 23424008 | G | A |
c.2821C>T
|
p.Arg941Cys
|
3.0 |
|
B | ||
| 29951 | chr14 | 23424912 | C | G |
c.2536G>C
|
p.Glu846Gln
|
3.0 |
|
B | ||
| 14606 | chr14 | 23424993 | G | A |
c.2455C>T
|
p.Arg819Trp
|
3.0 |
|
B | ||
| 20121 | chr14 | 23425267 | C | A |
c.2423+15G>T
|
-
|
- | 3.0 |
|
B | |
| 11235 | chr14 | 23425269 | T | G |
c.2423+13A>C
|
-
|
- | 3.0 |
|
B | |
| 27882 | chr14 | 23425325 | C | T |
c.2380G>A
|
p.Gly794Ser
|
- | 3.0 |
|
B | |
| 16903 | chr14 | 23425781 | G | A |
c.2200C>T
|
p.Gln734Ter
|
- | 3.0 |
|
B | |
| 33025 | chr14 | 23425992 | G | A |
c.2134C>T
|
p.Arg712Cys
|
3.0 |
|
B | ||
| 30802 | chr14 | 23426094 | G | A |
c.2045-13C>T
|
-
|
- | 3.0 |
|
B | |
| 18605 | chr14 | 23427654 | C | A |
c.1819G>T
|
p.Gly607Cys
|
- | 3.0 |
|
B | |
| 34041 | chr14 | 23428677 | G | T |
c.1408-7C>A
|
-
|
- | 3.0 |
|
B | |
| 21631 | chr14 | 23428950 | C | T |
c.1407+5G>A
|
-
|
- | 3.0 |
|
B | |
| 28981 | chr14 | 23428957 | C | T |
c.1405G>A
|
p.Asp469Asn
|
3.0 |
|
B | ||
| 19523 | chr14 | 23429086 | C | A |
c.1276G>T
|
p.Ala426Ser
|
- | 3.0 |
|
B | |
| 32124 | chr14 | 23429120 | G | A |
c.1258-16C>T
|
-
|
- | 3.0 |
|
B | |
| 25383 | chr14 | 23429757 | A | C |
c.1138+18T>G
|
-
|
- | 3.0 |
|
B |