Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31181 | chr4 | 125449425 | C | G |
c.8415C>G
|
p.Ile2805Met
|
- | 3.0 |
|
B | |
| 35132 | chr4 | 125449526 | A | G |
c.8516A>G
|
p.Asp2839Gly
|
- | 3.0 |
|
B | |
| 17773 | chr4 | 125449888 | C | T |
c.8878C>T
|
p.Arg2960Ter
|
- | 4.0 |
|
B | |
| 30598 | chr4 | 125449966 | C | T |
c.8956C>T
|
p.Leu2986Phe
|
3.0 |
|
B | ||
| 13489 | chr4 | 125450012 | G | A |
c.9002G>A
|
p.Gly3001Asp
|
- | 3.0 |
|
B | |
| 25093 | chr4 | 125450503 | A | C |
c.9493A>C
|
p.Thr3165Pro
|
- | 3.0 |
|
B | |
| 18778 | chr4 | 125450629 | G | A |
c.9619G>A
|
p.Glu3207Lys
|
3.0 |
|
B | ||
| 17266 | chr4 | 125450812 | C | T |
c.9802C>T
|
p.Leu3268Phe
|
- | 3.0 |
|
B | |
| 32369 | chr4 | 125450893 | G | A |
c.9883G>A
|
p.Glu3295Lys
|
- | 3.0 |
|
B | |
| 26190 | chr4 | 125450938 | T | C |
c.9928T>C
|
p.Ser3310Pro
|
- | 3.0 |
|
B | |
| 32083 | chr4 | 125450948 | C | A |
c.9938C>A
|
p.Ala3313Asp
|
- | 3.0 |
|
B | |
| 12996 | chr4 | 125451010 | G | A |
c.10000G>A
|
p.Glu3334Lys
|
3.0 |
|
B | ||
| 34729 | chr4 | 125451066 | G | T |
c.10056G>T
|
p.Lys3352Asn
|
- | 3.0 |
|
B | |
| 18568 | chr4 | 125451338 | C | T |
c.10328C>T
|
p.Ser3443Phe
|
3.0 |
|
B | ||
| 16510 | chr4 | 125451376 | T | A |
c.10366T>A
|
p.Ser3456Thr
|
- | 3.0 |
|
B | |
| 25474 | chr4 | 125451424 | C | T |
c.10414C>T
|
p.Arg3472Ter
|
4.0 |
|
B | ||
| 27756 | chr4 | 125451580 | C | T |
c.10570C>T
|
p.Arg3524Trp
|
2.5 |
|
B | ||
| 34011 | chr4 | 125452123 | G | T |
c.11113G>T
|
p.Gly3705Ter
|
- | 3.5 |
|
B | |
| 30480 | chr4 | 125452130 | C | T |
c.11120C>T
|
p.Ser3707Phe
|
- | 3.0 |
|
B | |
| 27867 | chr4 | 125452162 | C | T |
c.11152C>T
|
p.Arg3718Cys
|
3.0 |
|
B |