Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25809 | chr5 | 150406900 | A | G |
c.359T>C
|
p.Met120Thr
|
- | 3.0 |
|
B | |
| 20953 | chr5 | 150406931 | C | T |
c.328G>A
|
p.Ala110Thr
|
3.0 |
|
B | ||
| 13583 | chr5 | 151521905 | G | A |
c.10688C>T
|
p.Thr3563Met
|
2.5 |
|
B | ||
| 5173 | chr5 | 151563528 | T | C |
c.3371A>G
|
p.Tyr1124Cys
|
- | 3.0 |
|
B | |
| 20321 | chr5 | 154793829 | GC | G |
c.906del
|
p.Thr303ProfsTer23
|
3.0 |
|
B | ||
| 18096 | chr5 | 157087191 | C | T |
c.817G>A
|
p.Glu273Lys
|
3.0 |
|
B | ||
| 24097 | chr5 | 157087233 | G | A |
c.775C>T
|
p.Arg259Cys
|
3.0 |
|
B | ||
| 31900 | chr5 | 157087299 | G | T |
c.714-5C>A
|
-
|
- | 3.0 |
|
B | |
| 25904 | chr5 | 157095432 | G | A |
c.550C>T
|
p.Arg184Trp
|
3.0 |
|
B | ||
| 16725 | chr5 | 157106862 | C | A |
c.159G>T
|
p.Trp53Cys
|
- | 3.0 |
|
B | |
| 28990 | chr5 | 157106872 | G | T |
c.149C>A
|
p.Pro50His
|
- | 3.0 |
|
B | |
| 23611 | chr5 | 157106912 | G | T |
c.109C>A
|
p.Pro37Thr
|
- | 3.0 |
|
B | |
| 17060 | chr5 | 157106927 | G | A |
c.94C>T
|
p.Gln32Ter
|
- | 3.0 |
|
B | |
| 13332 | chr5 | 157108931 | A | T |
c.53T>A
|
p.Leu18His
|
- | 3.0 |
|
B | |
| 21754 | chr5 | 157108944 | G | A |
c.40C>T
|
p.Leu14=
|
- | 3.0 |
|
B | |
| 16149 | chr5 | 157180987 | T | G |
c.10T>G
|
p.Phe4Val
|
- | 3.0 |
|
B | |
| 18425 | chr5 | 157181026 | C | A |
c.49C>A
|
p.Gln17Lys
|
- | 3.0 |
|
B | |
| 30181 | chr5 | 157181044 | C | T |
c.67C>T
|
p.Pro23Ser
|
- | 3.0 |
|
B | |
| 31542 | chr5 | 157208984 | C | A |
c.234C>A
|
p.Tyr78Ter
|
- | 3.0 |
|
B | |
| 6587 | chr5 | 157208986 | C | T |
c.236C>T
|
p.Pro79Leu
|
3.0 |
|
B |