Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15597 | chr7 | 45703596 | C | T |
c.2572-4C>T
|
-
|
3.0 |
|
B | ||
| 23785 | chr7 | 45703651 | C | T |
c.2623C>T
|
p.Pro875Ser
|
- | 3.0 |
|
B | |
| 9619 | chr7 | 45703687 | A | T |
c.2659A>T
|
p.Asn887Tyr
|
- | 3.0 |
|
B | |
| 18881 | chr7 | 45704525 | A | G |
c.2726A>G
|
p.Glu909Gly
|
- | 3.0 |
|
B | |
| 30387 | chr7 | 45704550 | G | C |
c.2751G>C
|
p.Glu917Asp
|
3.0 |
|
B | ||
| 5577 | chr7 | 45708472 | G | T |
c.2932+8G>T
|
-
|
- | 3.0 |
|
B | |
| 1726 | chr7 | 45710592 | G | A |
c.2997G>A
|
p.Trp999Ter
|
- | 3.0 |
|
B | |
| 26213 | chr7 | 45710599 | A | T |
c.3004A>T
|
p.Thr1002Ser
|
- | 3.0 |
|
B | |
| 31407 | chr7 | 45710617 | C | T |
c.3022C>T
|
p.Arg1008Trp
|
- | 3.0 |
|
B | |
| 26419 | chr7 | 45710647 | A | T |
c.3052A>T
|
p.Ile1018Phe
|
- | 3.0 |
|
B | |
| 15515 | chr7 | 45710660 | C | T |
c.3057+8C>T
|
-
|
- | 3.0 |
|
B | |
| 17984 | chr7 | 45713711 | C | T |
c.3076C>T
|
p.Arg1026Trp
|
3.0 |
|
B | ||
| 14368 | chr7 | 45713747 | C | T |
c.3112C>T
|
p.Arg1038Ter
|
3.0 |
|
B | ||
| 11821 | chr7 | 45713774 | G | A |
c.3139G>A
|
p.Gly1047Ser
|
- | 3.0 |
|
B | |
| 535 | chr7 | 45713785 | G | C |
c.3150G>C
|
p.Leu1050Phe
|
- | 3.0 |
|
B | |
| 3774 | chr7 | 45888884 | T | G |
c.232T>G
|
p.Cys78Gly
|
- | 3.0 |
|
B | |
| 5180 | chr7 | 47931103 | C | T |
c.737+1G>A
|
p.?
|
3.0 |
|
B | ||
| 26089 | chr7 | 50319064 | G | A |
c.3G>A
|
p.Met1?
|
- | 4.0 |
|
B | |
| 18109 | chr7 | 50327639 | G | A |
c.42G>A
|
p.Gly14=
|
- | 3.5 |
|
B | |
| 32936 | chr7 | 50327639 | G | T |
c.42G>T
|
p.Gly14=
|
- | 3.0 |
|
B |