Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5876 | chr6 | 157207537 | G | A |
c.6765G>A
|
p.Met2255Ile
|
- | 3.0 |
|
B | |
| 11590 | chr6 | 157207615 | CT | C |
c.6845del
|
p.Leu2282Ter
|
- | 4.0 |
|
B | |
| 5332 | chr6 | 157207796 | G | T |
c.7024G>T
|
p.Glu2342Ter
|
4.0 |
|
B | ||
| 20933 | chr6 | 157207836 | ACT | A |
c.7069_7070del
|
p.Leu2357GlyfsTer7
|
4.5 |
|
B | ||
| 3577 | chr6 | 157647304 | C | T |
c.901C>T
|
p.Pro301Ser
|
- | 3.0 |
|
B | |
| 12345 | chr6 | 158489741 | A | C |
c.1631+9A>C
|
-
|
- | 3.0 |
|
B | |
| 29289 | chr6 | 158767076 | C | T |
-
c.1599G>A
|
-
p.Thr533=
|
3.0 |
|
B | ||
| 12951 | chr6 | 158767095 | C | T |
-
c.1597-17G>A
|
-
-
|
3.0 |
|
B | ||
| 24415 | chr6 | 158770805 | C | T |
c.1049G>A
|
p.Arg350Gln
|
3.0 |
|
B | ||
| 20554 | chr6 | 158770905 | G | A |
c.960-11C>T
|
-
|
3.0 |
|
B | ||
| 26608 | chr6 | 158776428 | G | A |
c.775C>T
|
p.Pro259Ser
|
- | 3.0 |
|
B | |
| 18395 | chr6 | 158776518 | G | A |
c.699-14C>T
|
-
|
- | 3.0 |
|
B | |
| 22322 | chr6 | 158785437 | ATCGCT | A |
c.334_338del
|
p.Ser112Ter
|
- | 3.0 |
|
B | |
| 20334 | chr6 | 158787209 | TGA | T |
c.97-8_97-7del
|
-
|
2.0 |
|
B | ||
| 31580 | chr6 | 158789271 | C | G |
c.96+17G>C
|
-
|
- | 3.0 |
|
B | |
| 3648 | chr6 | 159233635 | C | CTGCGACGTGGGG |
c.3123_3124insTGCGACGTGGGG
|
p.Pro1041_Arg1042insCysAspValGly
|
- | 3.0 |
|
B | |
| 27897 | chr6 | 159969371 | C | T |
c.125C>T
|
p.Ala42Val
|
3.0 |
|
B | ||
| 30329 | chr6 | 160009154 | T | A |
c.414+20T>A
|
-
|
- | 3.0 |
|
B | |
| 19478 | chr6 | 160010672 | AT | A |
c.415-6del
|
-
|
3.0 |
|
B | ||
| 35215 | chr6 | 160010783 | G | A |
c.511G>A
|
p.Glu171Lys
|
- | 3.0 |
|
B |