Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15178 | chr5 | 14389322 | G | T |
c.3982G>T
|
p.Glu1328Ter
|
- | 3.0 |
|
B | |
| 15711 | chr5 | 14390274 | G | T |
c.4102G>T
|
p.Asp1368Tyr
|
- | 3.0 |
|
B | |
| 20880 | chr5 | 14390946 | G | A |
c.4174G>A
|
p.Asp1392Asn
|
- | 3.0 |
|
B | |
| 15134 | chr5 | 14394098 | C | T |
c.4279C>T
|
p.Gln1427Ter
|
- | 3.0 |
|
B | |
| 19443 | chr5 | 14397031 | T | G |
c.4312-12T>G
|
-
|
- | 3.0 |
|
B | |
| 33527 | chr5 | 14397109 | G | A |
c.4378G>A
|
p.Val1460Met
|
3.0 |
|
B | ||
| 13649 | chr5 | 14400944 | T | C |
c.4615-19T>C
|
-
|
- | 3.0 |
|
B | |
| 7602 | chr5 | 14401074 | T | C |
c.4716+10T>C
|
-
|
- | 3.0 |
|
B | |
| 30512 | chr5 | 14406002 | G | T |
c.4859+12G>T
|
-
|
- | 3.0 |
|
B | |
| 9072 | chr5 | 14406605 | G | A |
c.4892G>A
|
p.Gly1631Asp
|
- | 3.0 |
|
B | |
| 2221 | chr5 | 14406656 | C | T |
c.4943C>T
|
p.Thr1648Met
|
3.0 |
|
B | ||
| 35110 | chr5 | 14461231 | G | T |
c.5416G>T
|
p.Val1806Phe
|
- | 3.0 |
|
B | |
| 2491 | chr5 | 14461291 | C | T |
c.5476C>T
|
p.Gln1826Ter
|
- | 3.0 |
|
B | |
| 11905 | chr5 | 14472656 | G | C |
c.5977G>C
|
p.Glu1993Gln
|
- | 3.0 |
|
B | |
| 32059 | chr5 | 14476874 | A | G |
c.6084-20A>G
|
-
|
- | 3.0 |
|
B | |
| 1211 | chr5 | 14481571 | A | T |
c.6418A>T
|
p.Arg2140Trp
|
- | 3.0 |
|
B | |
| 28723 | chr5 | 14481626 | G | C |
c.6465+8G>C
|
-
|
- | 3.0 |
|
B | |
| 30109 | chr5 | 14482575 | G | A |
c.6466-7G>A
|
-
|
- | 3.0 |
|
B | |
| 15802 | chr5 | 14485052 | GTT | G |
c.6658-5_6658-4del
|
-
|
3.0 |
|
B | ||
| 19579 | chr5 | 14485052 | GTTT | G |
c.6658-6_6658-4del
|
-
|
- | 3.0 |
|
B |