Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33751 | chr6 | 31877081 | C | T |
-
c.42G>A
|
-
p.Gly14=
|
3.0 |
|
B | ||
| 6119 | chr6 | 31877086 | A | C |
-
c.41-4T>G
|
-
-
|
- | 3.0 |
|
B | |
| 3417 | chr6 | 32073809 | G | A |
c.4519C>T
|
p.Gln1507Ter
|
3.0 |
|
B | ||
| 32658 | chr6 | 32195548 | G | A |
c.5901C>T
-
|
p.Ile1967=
-
|
- | 3.0 |
|
B | |
| 20934 | chr6 | 32195605 | G | C |
c.5844C>G
-
|
p.Asp1948Glu
-
|
- | 3.0 |
|
B | |
| 11792 | chr6 | 32195756 | C | A |
c.5693G>T
-
|
p.Arg1898Leu
-
|
- | 3.0 |
|
B | |
| 5530 | chr6 | 32195760 | AAT | A |
c.5687_5688del
-
|
p.His1896LeufsTer19
-
|
- | 3.5 |
|
B | |
| 22156 | chr6 | 32195864 | C | G |
c.5585G>C
-
|
p.Arg1862Pro
-
|
3.0 |
|
B | ||
| 9187 | chr6 | 32195943 | C | G |
c.5506G>C
-
|
p.Glu1836Gln
-
|
- | 3.0 |
|
B | |
| 10323 | chr6 | 32196033 | C | T |
c.5416G>A
-
|
p.Val1806Ile
-
|
3.0 |
|
B | ||
| 23642 | chr6 | 32196040 | C | T |
c.5409G>A
-
|
p.Pro1803=
-
|
3.0 |
|
B | ||
| 11817 | chr6 | 32197283 | C | T |
c.5052+16G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 34064 | chr6 | 32197511 | C | T |
c.4840G>A
-
|
p.Glu1614Lys
-
|
- | 3.0 |
|
B | |
| 3048 | chr6 | 32199085 | A | T |
c.4376T>A
|
p.Leu1459His
|
- | 3.0 |
|
B | |
| 26604 | chr6 | 32200918 | G | A |
c.4228C>T
|
p.Arg1410Cys
|
3.0 |
|
B | ||
| 25153 | chr6 | 32200942 | G | A |
c.4204C>T
|
p.Pro1402Ser
|
3.0 |
|
B | ||
| 14857 | chr6 | 32201007 | C | T |
c.4140-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 17609 | chr6 | 32201120 | G | A |
c.4136C>T
|
p.Ala1379Val
|
- | 3.0 |
|
B | |
| 16250 | chr6 | 32201168 | G | T |
c.4088C>A
|
p.Ala1363Glu
|
- | 3.0 |
|
B | |
| 25624 | chr6 | 32201189 | TC | T |
c.4066del
|
p.Asp1356ThrfsTer102
|
- | 4.0 |
|
B |