Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33516 | chr7 | 55181317 | G | GGTT |
c.2308_2309insGTT
|
p.Asp770delinsGlyTyr
|
3.5 |
|
B | ||
| 17967 | chr7 | 55181318 | A | G |
c.2309A>G
|
p.Asp770Gly
|
- | 3.0 |
|
B | |
| 7853 | chr7 | 55181320 | A | AACCCCC |
c.2314_2319dup
|
p.Pro772_His773dup
|
- | 3.5 |
|
B | |
| 2812 | chr7 | 55181325 | C | CCACGTG |
c.2317_2322dup
|
p.His773_Val774dup
|
4.5 |
|
B | ||
| 950 | chr7 | 55181329 | G | A |
c.2320G>A
|
p.Val774Met
|
3.5 |
|
B | ||
| 30374 | chr7 | 55181335 | C | T |
c.2326C>T
|
p.Arg776Cys
|
3.0 |
|
B | ||
| 6447 | chr7 | 55181341 | C | A |
c.2332C>A
|
p.Leu778Met
|
- | 3.0 |
|
B | |
| 10901 | chr7 | 55181351 | G | C |
c.2342G>C
|
p.Cys781Ser
|
- | 3.0 |
|
B | |
| 319 | chr7 | 55181378 | C | T |
c.2369C>T
|
p.Thr790Met
|
4.33 |
|
A | ||
| 6183 | chr7 | 55181432 | A | C |
c.2423A>C
|
p.Asn808Thr
|
- | 3.0 |
|
B | |
| 25818 | chr7 | 55181445 | G | T |
c.2436G>T
|
p.Gln812His
|
- | 3.0 |
|
B | |
| 17519 | chr7 | 55191755 | C | T |
c.2506C>T
|
p.Arg836Cys
|
3.0 |
|
B | ||
| 19062 | chr7 | 55191794 | C | T |
c.2545C>T
|
p.Gln849Ter
|
3.0 |
|
B | ||
| 18877 | chr7 | 55191822 | T | G |
c.2573T>G
|
p.Leu858Arg
|
4.5 |
|
B | ||
| 32840 | chr7 | 55191831 | T | A |
c.2582T>A
|
p.Leu861Gln
|
4.5 |
|
B | ||
| 20997 | chr7 | 55191880 | G | A |
c.2625+6G>A
|
-
|
3.0 |
|
B | ||
| 14092 | chr7 | 55192822 | G | C |
c.2682G>C
|
p.Gln894His
|
3.0 |
|
B | ||
| 1301 | chr7 | 55192845 | A | T |
c.2701+4A>T
|
-
|
- | 3.0 |
|
B | |
| 32955 | chr7 | 55198714 | C | G |
c.2702-3C>G
|
-
|
3.0 |
|
B | ||
| 31969 | chr7 | 55198778 | C | G |
c.2763C>G
|
p.Ser921Arg
|
- | 3.0 |
|
B |