Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18036 | chr19 | 45408061 | C | A |
-
c.165-72C>A
c.*1614G>T
|
-
-
-
|
3.0 |
|
B | ||
| 19845 | chr19 | 45408061 | C | CA |
-
c.165-62dup
c.*1613dup
|
-
-
-
|
2.5 |
|
B | ||
| 17990 | chr19 | 45413761 | G | A |
-
c.775-16C>T
|
-
-
|
2.0 |
|
B | ||
| 10382 | chr19 | 45416813 | C | A |
c.602+8G>T
|
-
|
- | 3.0 |
|
B | |
| 8110 | chr19 | 45419127 | A | T |
c.496T>A
|
p.Leu166Met
|
- | 3.0 |
|
B | |
| 27027 | chr19 | 45419193 | G | A |
c.430C>T
|
p.Arg144Cys
|
3.0 |
|
B | ||
| 32119 | chr19 | 45420395 | A | G |
c.354T>C
|
p.Asn118=
|
1.0 |
|
B | ||
| 33030 | chr19 | 45421347 | G | A |
c.152C>T
|
p.Thr51Ile
|
3.0 |
|
B | ||
| 8063 | chr19 | 45421389 | T | G |
c.110A>C
|
p.Lys37Thr
|
- | 3.0 |
|
B | |
| 9702 | chr19 | 45423353 | CTT | C |
c.20_21del
|
p.Lys7ArgfsTer23
|
- | 3.5 |
|
B | |
| 30407 | chr19 | 45471201 | C | T |
c.455C>T
|
p.Pro152Leu
|
- | 3.0 |
|
B | |
| 3776 | chr19 | 45844113 | G | A |
c.764C>T
|
p.Thr255Ile
|
- | 3.0 |
|
B | |
| 18006 | chr19 | 45885378 | CCA | C |
c.395_396del
-
|
p.Leu132ArgfsTer11
-
|
- | 3.0 |
|
B | |
| 5231 | chr19 | 46019395 | A | ATCCGGGCAGCCCAGGGTCTAC |
-
c.433_434insGTAGACCCTGGGCTGCCCGGA
|
-
p.Ala144_Ile145insSerArgProTrpAlaAlaArg
|
- | 3.0 |
|
B | |
| 16540 | chr19 | 46918881 | A | T |
c.206A>T
|
p.Asn69Ile
|
- | 3.0 |
|
B | |
| 16541 | chr19 | 46918884 | A | T |
c.209A>T
|
p.Asn70Ile
|
- | 3.0 |
|
B | |
| 18344 | chr19 | 46919009 | G | A |
c.334G>A
|
p.Ala112Thr
|
3.0 |
|
B | ||
| 32169 | chr19 | 46919062 | A | AT |
c.387_388insT
|
p.Lys130Ter
|
- | 3.5 |
|
B | |
| 14655 | chr19 | 46919159 | C | T |
c.484C>T
|
p.Leu162Phe
|
- | 3.0 |
|
B | |
| 20674 | chr19 | 46919223 | A | G |
c.548A>G
|
p.Asn183Ser
|
3.0 |
|
B |