Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12073 | chr7 | 86786502 | G | A |
c.710G>A
|
p.Arg237His
|
3.0 |
|
B | ||
| 3180 | chr7 | 86786523 | C | T |
c.731C>T
|
p.Ala244Val
|
- | 3.0 |
|
B | |
| 14849 | chr7 | 86786531 | G | A |
c.739G>A
|
p.Val247Met
|
- | 3.0 |
|
B | |
| 29931 | chr7 | 86786538 | G | A |
c.746G>A
|
p.Arg249His
|
- | 3.0 |
|
B | |
| 4236 | chr7 | 86786561 | G | A |
c.769G>A
|
p.Asp257Asn
|
3.0 |
|
B | ||
| 8086 | chr7 | 86786610 | T | C |
c.818T>C
|
p.Val273Ala
|
- | 3.0 |
|
B | |
| 24690 | chr7 | 86786628 | A | G |
c.836A>G
|
p.Asp279Gly
|
- | 3.0 |
|
B | |
| 3924 | chr7 | 86786639 | G | A |
c.847G>A
|
p.Glu283Lys
|
3.0 |
|
B | ||
| 10914 | chr7 | 86786654 | G | A |
c.862G>A
|
p.Ala288Thr
|
- | 3.0 |
|
B | |
| 9436 | chr7 | 86786660 | C | T |
c.868C>T
|
p.Arg290Cys
|
3.0 |
|
B | ||
| 10761 | chr7 | 86786696 | G | A |
c.904G>A
|
p.Gly302Ser
|
- | 3.0 |
|
B | |
| 35569 | chr7 | 86786705 | G | A |
c.913G>A
|
p.Ala305Thr
|
- | 3.0 |
|
B | |
| 2729 | chr7 | 86786792 | G | A |
c.1000G>A
|
p.Asp334Asn
|
3.0 |
|
B | ||
| 23753 | chr7 | 86786796 | G | A |
c.1004G>A
|
p.Arg335His
|
3.0 |
|
B | ||
| 6047 | chr7 | 86786817 | C | T |
c.1025C>T
|
p.Pro342Leu
|
3.0 |
|
B | ||
| 26872 | chr7 | 86786874 | G | A |
c.1082G>A
|
p.Cys361Tyr
|
- | 3.0 |
|
B | |
| 31731 | chr7 | 86786892 | G | A |
c.1100G>A
|
p.Arg367His
|
3.0 |
|
B | ||
| 9706 | chr7 | 86786903 | C | T |
c.1111C>T
|
p.Arg371Cys
|
- | 3.0 |
|
B | |
| 740 | chr7 | 86786904 | G | A |
c.1112G>A
|
p.Arg371His
|
3.0 |
|
B | ||
| 8114 | chr7 | 86786906 | G | A |
c.1114G>A
|
p.Val372Ile
|
3.0 |
|
B |