Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4436 | chr5 | 180630021 | C | T |
c.598G>A
|
p.Asp200Asn
|
3.0 |
|
B | ||
| 19592 | chr5 | 180630049 | GC | G |
c.569del
|
p.Gly190AlafsTer55
|
- | 3.0 |
|
B | |
| 34406 | chr5 | 180630090 | ACAGCACCGAGCTTTGCT | A |
c.514-2_528del
|
p.?
|
- | 3.0 |
|
B | |
| 971 | chr5 | 180630235 | G | A |
c.503C>T
|
p.Thr168Met
|
3.0 |
|
B | ||
| 3188 | chr5 | 180630256 | G | A |
c.482C>T
|
p.Ser161Phe
|
- | 3.0 |
|
B | |
| 10977 | chr5 | 180630293 | T | C |
c.445A>G
|
p.Asn149Asp
|
1.0 |
|
B | ||
| 3823 | chr5 | 180630304 | G | A |
c.434C>T
|
p.Thr145Met
|
3.0 |
|
B | ||
| 10978 | chr5 | 180630356 | C | G |
c.401-19G>C
|
-
|
1.0 |
|
B | ||
| 10979 | chr5 | 180630538 | C | T |
c.400+17G>A
|
-
|
1.0 |
|
B | ||
| 5500 | chr5 | 180630574 | G | T |
c.381C>A
|
p.Ser127Arg
|
- | 3.0 |
|
B | |
| 844 | chr5 | 180630627 | C | T |
c.328G>A
|
p.Val110Ile
|
3.0 |
|
B | ||
| 1799 | chr5 | 180630710 | C | T |
c.245G>A
|
p.Arg82Gln
|
2.5 |
|
B | ||
| 8070 | chr5 | 180630779 | C | T |
c.176G>A
|
p.Trp59Ter
|
- | 3.0 |
|
B | |
| 10538 | chr5 | 180631676 | C | A |
c.155+6G>T
|
-
|
- | 3.0 |
|
B | |
| 18445 | chr5 | 180631714 | G | C |
c.123C>G
|
p.Ile41Met
|
- | 3.0 |
|
B | |
| 19999 | chr5 | 180631747 | CG | C |
c.89del
|
p.Pro30ArgfsTer3
|
3.0 |
|
B | ||
| 7022 | chr6 | 393206 | C | G |
c.54C>G
|
p.Ser18Arg
|
- | 3.0 |
|
B | |
| 5055 | chr6 | 393264 | C | T |
c.112C>T
|
p.Pro38Ser
|
3.0 |
|
B | ||
| 31579 | chr6 | 393325 | G | C |
c.173G>C
|
p.Gly58Ala
|
- | 3.0 |
|
B | |
| 22155 | chr6 | 393365 | C | T |
c.213C>T
|
p.Phe71=
|
3.0 |
|
B |