Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30070 | chr1 | 237643319 | C | T |
c.7222-8C>T
|
-
|
3.0 |
|
B | ||
| 26019 | chr1 | 237643339 | G | A |
c.7234G>A
|
p.Gly2412Arg
|
3.0 |
|
B | ||
| 13160 | chr1 | 237648543 | A | G |
c.7442A>G
|
p.Gln2481Arg
|
- | 3.0 |
|
B | |
| 21836 | chr1 | 237648551 | C | A |
c.7450C>A
|
p.Leu2484Ile
|
- | 3.0 |
|
B | |
| 35493 | chr1 | 237648560 | C | T |
c.7459C>T
|
p.Leu2487Phe
|
- | 3.0 |
|
B | |
| 31610 | chr1 | 237649889 | G | T |
c.7525G>T
|
p.Ala2509Ser
|
- | 3.0 |
|
B | |
| 18349 | chr1 | 237649934 | G | A |
c.7570G>A
|
p.Val2524Ile
|
3.0 |
|
B | ||
| 18542 | chr1 | 237650012 | C | T |
c.7648C>T
|
p.His2550Tyr
|
- | 3.0 |
|
B | |
| 28451 | chr1 | 237650061 | G | A |
c.7697G>A
|
p.Arg2566Gln
|
3.0 |
|
B | ||
| 17199 | chr1 | 237650098 | G | A |
c.7733+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 34132 | chr1 | 237654261 | T | A |
c.7825-13T>A
|
-
|
- | 3.0 |
|
B | |
| 32641 | chr1 | 237655811 | T | A |
c.7966-10T>A
|
-
|
- | 3.0 |
|
B | |
| 15507 | chr1 | 237655873 | C | A |
c.8018C>A
|
p.Ala2673Glu
|
- | 3.0 |
|
B | |
| 16307 | chr1 | 237655875 | G | A |
c.8020G>A
|
p.Gly2674Arg
|
- | 3.0 |
|
B | |
| 17662 | chr1 | 237655899 | G | T |
c.8044G>T
|
p.Glu2682Ter
|
- | 3.0 |
|
B | |
| 32550 | chr1 | 237655929 | C | T |
c.8074C>T
|
p.Gln2692Ter
|
- | 3.0 |
|
B | |
| 16201 | chr1 | 237655951 | G | T |
c.8096G>T
|
p.Gly2699Val
|
- | 3.0 |
|
B | |
| 28984 | chr1 | 237657969 | T | C |
c.8155T>C
|
p.Tyr2719His
|
- | 3.0 |
|
B | |
| 17026 | chr1 | 237660817 | A | G |
c.8306A>G
|
p.Glu2769Gly
|
- | 3.0 |
|
B | |
| 13243 | chr1 | 237660826 | G | A |
c.8315G>A
|
p.Arg2772His
|
3.0 |
|
B |