Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22370 | chr13 | 109785944 | A | T |
c.110T>A
|
p.Leu37Gln
|
- | 3.0 |
|
B | |
| 9172 | chr13 | 109785969 | G | GGTT |
c.82_84dup
|
p.Asn28dup
|
2.5 |
|
B | ||
| 17647 | chr13 | 109786021 | C | G |
c.33G>C
|
p.Gly11=
|
- | 3.0 |
|
B | |
| 17648 | chr13 | 109786025 | G | C |
c.29C>G
|
p.Pro10Arg
|
- | 3.0 |
|
B | |
| 4746 | chr13 | 110485690 | GGAAT | G |
c.3062_3065del
|
p.Gly1021AlafsTer45
|
- | 3.0 |
|
B | |
| 4707 | chr13 | 110712972 | G | A |
-
|
-
|
3.0 |
|
B | ||
| 10770 | chr13 | 110714179 | C | G |
c.30C>G
|
p.Leu10=
|
- | 3.0 |
|
B | |
| 13177 | chr13 | 110714265 | A | AGAT |
c.117_119dup
|
p.Glu39_Ile40insMet
|
- | 3.0 |
|
B | |
| 23002 | chr13 | 110715714 | C | T |
c.136+1429C>T
|
-
|
- | 3.0 |
|
B | |
| 12120 | chr13 | 110715770 | C | T |
c.136+1485C>T
|
-
|
- | 3.0 |
|
B | |
| 26970 | chr13 | 110719282 | G | A |
c.190G>A
|
p.Gly64Arg
|
3.0 |
|
B | ||
| 33802 | chr13 | 110719322 | C | T |
c.230C>T
|
p.Ala77Val
|
3.0 |
|
B | ||
| 6860 | chr13 | 110719374 | G | T |
c.282G>T
|
p.Gln94His
|
- | 3.0 |
|
B | |
| 8758 | chr13 | 110719544 | G | A |
c.452G>A
|
p.Arg151Gln
|
- | 3.0 |
|
B | |
| 5808 | chr13 | 110719678 | C | T |
c.586C>T
|
p.Arg196Ter
|
- | 4.0 |
|
B | |
| 11397 | chr13 | 110719690 | C | T |
c.598C>T
|
p.Pro200Ser
|
- | 3.0 |
|
B | |
| 1181 | chr13 | 110719792 | G | T |
c.700G>T
|
p.Glu234Ter
|
- | 3.5 |
|
B | |
| 21792 | chr13 | 110719793 | A | G |
c.701A>G
|
p.Glu234Gly
|
- | 3.0 |
|
B | |
| 12238 | chr13 | 112068618 | G | GACTTCACCAGA |
c.960_961insACTTCACCAGA
|
p.Glu321ThrfsTer27
|
- | 3.0 |
|
B | |
| 8703 | chr13 | 112069445 | AT | A |
c.*622del
|
-
|
1.0 |
|
B |