Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12539 | chr13 | 48381435 | TG | T |
c.1689del
|
p.Trp563CysfsTer48
|
- | 4.0 |
|
B | |
| 26544 | chr13 | 48381436 | G | C |
c.1688G>C
|
p.Trp563Ser
|
- | 3.5 |
|
B | |
| 56 | chr13 | 48381436 | G | T |
c.1688G>T
|
p.Trp563Leu
|
- | 3.0 |
|
B | |
| 23313 | chr13 | 48381444 | GTAAGTAGCTAAA | G |
c.1695+5_1695+16del
|
-
|
- | 4.0 |
|
B | |
| 27807 | chr13 | 48452988 | T | G |
c.1696-5T>G
|
-
|
3.0 |
|
B | ||
| 7902 | chr13 | 48452991 | A | T |
c.1696-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 10291 | chr13 | 48452992 | G | A |
c.1696-1G>A
|
p.?
|
4.5 |
|
B | ||
| 20461 | chr13 | 48452997 | C | A |
c.1700C>A
|
p.Ser567Ter
|
- | 4.0 |
|
B | |
| 55 | chr13 | 48452997 | C | T |
c.1700C>T
|
p.Ser567Leu
|
3.67 |
|
A | ||
| 8235 | chr13 | 48453004 | A | AT |
c.1710dup
|
p.Asp571Ter
|
- | 4.0 |
|
B | |
| 26630 | chr13 | 48453024 | C | G |
c.1727C>G
|
p.Ser576Ter
|
- | 4.0 |
|
B | |
| 8483 | chr13 | 48453030 | A | AC |
c.1735dup
|
p.Arg579ProfsTer6
|
- | 4.0 |
|
B | |
| 6192 | chr13 | 48453032 | C | T |
c.1735C>T
|
p.Arg579Ter
|
4.5 |
|
B | ||
| 24962 | chr13 | 48453068 | C | CCTCTTAAT |
c.1774_1781dup
|
p.Pro595LeufsTer19
|
- | 4.0 |
|
B | |
| 5603 | chr13 | 48453112 | G | A |
c.1814+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 59 | chr13 | 48456206 | A | G |
c.1817A>G
|
p.Tyr606Cys
|
- | 3.0 |
|
B | |
| 33001 | chr13 | 48456231 | GA | G |
c.1848del
|
p.Gly617ValfsTer6
|
- | 4.5 |
|
B | |
| 7224 | chr13 | 48456307 | A | T |
c.1918A>T
|
p.Lys640Ter
|
- | 4.0 |
|
B | |
| 3064 | chr13 | 48456323 | CCT | C |
c.1939_1940del
|
p.Leu647PhefsTer5
|
- | 4.0 |
|
B | |
| 7225 | chr13 | 48456326 | C | T |
c.1937C>T
|
p.Ser646Phe
|
- | 3.0 |
|
B |