Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9899 | chr6 | 33321561 | C | A |
c.214G>T
-
-
|
p.Glu72Ter
-
-
|
- | 4.0 |
|
B | |
| 7659 | chr6 | 33321811 | G | T |
c.115C>A
-
-
|
p.Pro39Thr
-
-
|
- | 3.0 |
|
B | |
| 18099 | chr6 | 33321822 | C | T |
c.104G>A
-
-
|
p.Gly35Glu
-
-
|
3.5 |
|
B | ||
| 11317 | chr6 | 33412275 | C | A |
-
c.12C>A
-
|
-
p.Pro4=
-
|
- | 3.0 |
|
B | |
| 21381 | chr6 | 33413310 | C | T |
-
c.438+14C>T
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 21075 | chr6 | 33414229 | CT | C |
-
c.753-11del
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 24909 | chr6 | 33414781 | G | C |
-
c.1001G>C
-
|
-
p.Arg334Pro
-
|
- | 3.0 |
|
B | |
| 23157 | chr6 | 33414831 | T | TCA |
-
c.1049+4_1049+5dup
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 17287 | chr6 | 33415082 | G | A |
-
c.1177G>A
-
|
-
p.Val393Met
-
|
- | 3.0 |
|
B | |
| 31674 | chr6 | 33415677 | T | A |
-
c.1415+7T>A
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 22868 | chr6 | 33415679 | C | T |
-
c.1415+9C>T
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 25428 | chr6 | 33415979 | G | A |
-
c.1585G>A
-
|
-
p.Val529Ile
-
|
- | 3.0 |
|
B | |
| 20739 | chr6 | 33416048 | G | A |
-
c.1654G>A
-
|
-
p.Asp552Asn
-
|
- | 3.0 |
|
B | |
| 34203 | chr6 | 33416055 | C | T |
-
c.1661C>T
-
|
-
p.Ser554Phe
-
|
3.0 |
|
B | ||
| 31555 | chr6 | 33420258 | A | C |
c.-7A>C
-
-
|
-
-
-
|
3.0 |
|
B | ||
| 3640 | chr6 | 34247149 | C | T |
-
c.138G>A
|
-
p.Arg46=
|
- | 3.0 |
|
B | |
| 4670 | chr6 | 35293916 | G | A |
-
c.1494+1G>A
|
-
p.?
|
3.0 |
|
B | ||
| 12690 | chr6 | 35455814 | C | T |
c.316C>T
|
p.Arg106Trp
|
3.0 |
|
B | ||
| 1649 | chr6 | 35455827 | C | T |
c.329C>T
|
p.Pro110Leu
|
3.0 |
|
B | ||
| 15604 | chr6 | 35455919 | C | T |
c.421C>T
|
p.Arg141Ter
|
4.0 |
|
B |