Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32736 | chr1 | 162773466 | T | G |
c.1729-3T>G
|
-
|
- | 3.0 |
|
B | |
| 19521 | chr1 | 162773545 | C | T |
c.1805C>T
|
p.Pro602Leu
|
3.0 |
|
B | ||
| 15122 | chr1 | 162775665 | A | T |
c.1870A>T
|
p.Lys624Ter
|
- | 3.0 |
|
B | |
| 620 | chr1 | 162775694 | G | C |
c.1899G>C
|
p.Lys633Asn
|
- | 3.0 |
|
B | |
| 10188 | chr1 | 162775790 | T | A |
c.1995T>A
|
p.Phe665Leu
|
- | 3.0 |
|
B | |
| 9516 | chr1 | 162775809 | C | T |
c.2014C>T
|
p.Pro672Ser
|
- | 3.0 |
|
B | |
| 31574 | chr1 | 162775827 | G | A |
c.2032G>A
|
p.Asp678Asn
|
3.0 |
|
B | ||
| 9976 | chr1 | 162775833 | C | T |
c.2038C>T
|
p.Arg680Cys
|
3.0 |
|
B | ||
| 8658 | chr1 | 162776134 | A | G |
c.2049-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 23624 | chr1 | 162776359 | A | T |
c.2272A>T
|
p.Ser758Cys
|
- | 3.0 |
|
B | |
| 8492 | chr1 | 162778630 | G | A |
c.2334G>A
|
p.Trp778Ter
|
- | 3.0 |
|
B | |
| 8493 | chr1 | 162778631 | G | A |
c.2335G>A
|
p.Glu779Lys
|
- | 3.0 |
|
B | |
| 5351 | chr1 | 162778691 | G | A |
c.2395G>A
|
p.Glu799Lys
|
- | 3.0 |
|
B | |
| 19157 | chr1 | 162778703 | G | C |
c.2407G>C
|
p.Glu803Gln
|
- | 3.0 |
|
B | |
| 24410 | chr1 | 162780124 | C | T |
c.2446C>T
|
p.Gln816Ter
|
- | 3.0 |
|
B | |
| 8494 | chr1 | 162780226 | C | T |
c.2548C>T
|
p.Leu850Phe
|
3.0 |
|
B | ||
| 31337 | chr1 | 162861527 | G | A |
-
|
-
|
1.0 |
|
B | ||
| 35192 | chr1 | 164563298 | C | G |
c.252C>G
|
p.Ile84Met
|
- | 3.0 |
|
B | |
| 31078 | chr1 | 164630907 | G | C |
c.265+67596G>C
|
-
|
- | 3.0 |
|
B | |
| 29486 | chr1 | 164792604 | T | TCGGCGGCAG |
c.393_401dup
|
p.Ala133_Ala135dup
|
3.0 |
|
B |