Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20154 | chr17 | 7511818 | G | A |
c.4109G>A
|
p.Gly1370Asp
|
- | 3.0 |
|
B | |
| 21238 | chr17 | 7512897 | C | T |
c.4730C>T
|
p.Pro1577Leu
|
- | 3.0 |
|
B | |
| 15987 | chr17 | 7513171 | A | G |
c.4907A>G
|
p.Tyr1636Cys
|
3.0 |
|
B | ||
| 30164 | chr17 | 7513238 | ACCCACCTCTCCCAGCTACTCG | A |
c.5016_5036del
|
p.Ser1740_Pro1746del
|
2.0 |
|
B | ||
| 33158 | chr17 | 7513419 | A | G |
c.5155A>G
|
p.Ser1719Gly
|
- | 3.0 |
|
B | |
| 32294 | chr17 | 7513615 | G | A |
c.5351G>A
|
p.Ser1784Asn
|
- | 3.0 |
|
B | |
| 35542 | chr17 | 7513953 | C | T |
c.5687C>T
|
p.Ser1896Phe
|
- | 3.0 |
|
B | |
| 20155 | chr17 | 7514145 | C | T |
c.5879C>T
|
p.Ala1960Val
|
3.0 |
|
B | ||
| 33922 | chr17 | 7661949 | T | C |
-
|
-
|
- | 3.0 |
|
B | |
| 9122 | chr17 | 7661960 | T | C |
-
|
-
|
3.0 |
|
B | ||
| 9206 | chr17 | 7669610 | C | A |
c.1181G>T
|
p.Ter394LeuextTer9
|
- | 3.5 |
|
B | |
| 28421 | chr17 | 7669623 | G | GCCCTT |
c.1163_1167dup
|
p.Pro390LysfsTer34
|
- | 4.0 |
|
B | |
| 27089 | chr17 | 7669623 | GC | G |
c.1167del
|
p.Pro390LeufsTer32
|
4.0 |
|
B | ||
| 28012 | chr17 | 7669644 | G | GT |
c.1146dup
|
p.Leu383ThrfsTer9
|
- | 4.0 |
|
B | |
| 571 | chr17 | 7669644 | GT | G |
c.1146del
|
p.Lys382AsnfsTer40
|
4.0 |
|
B | ||
| 8461 | chr17 | 7669668 | G | A |
c.1123C>T
|
p.Gln375Ter
|
4.5 |
|
B | ||
| 7976 | chr17 | 7669681 | CT | C |
c.1109del
|
p.Lys370SerfsTer52
|
- | 4.0 |
|
B | |
| 25455 | chr17 | 7670592 | G | A |
c.1100+17C>T
|
-
|
- | 3.0 |
|
B | |
| 17383 | chr17 | 7670602 | C | G |
c.1100+7G>C
|
-
|
- | 3.0 |
|
B | |
| 80 | chr17 | 7670616 | G | A |
c.1093C>T
|
p.His365Tyr
|
2.0 |
|
B |