Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8268 | chr11 | 114247318 | A | G |
c.1745A>G
|
p.Lys582Arg
|
- | 3.0 |
|
B | |
| 19711 | chr11 | 114247368 | A | G |
c.1792+3A>G
|
-
|
- | 3.0 |
|
B | |
| 9506 | chr11 | 114250367 | C | T |
c.1834C>T
|
p.Arg612Trp
|
- | 3.0 |
|
B | |
| 34277 | chr11 | 114250444 | G | T |
c.1911G>T
|
p.Glu637Asp
|
- | 3.0 |
|
B | |
| 3541 | chr11 | 114679656 | G | A |
c.27-1G>A
|
p.?
|
3.0 |
|
B | ||
| 18004 | chr11 | 116896357 | T | C |
c.761A>G
|
p.Tyr254Cys
|
- | 3.0 |
|
B | |
| 30365 | chr11 | 117163788 | G | A |
c.307G>A
|
p.Gly103Arg
|
- | 3.0 |
|
B | |
| 32216 | chr11 | 117171748 | T | C |
-
|
-
|
- | 3.0 |
|
B | |
| 19657 | chr11 | 118176519 | TA | T |
c.-89del
|
-
|
3.0 |
|
B | ||
| 11242 | chr11 | 118237041 | T | G |
c.451+9A>C
|
-
|
- | 3.0 |
|
B | |
| 19658 | chr11 | 118349867 | TA | T |
c.213del
|
p.Lys71AsnfsTer40
|
3.0 |
|
B | ||
| 33320 | chr11 | 118436560 | C | T |
c.48C>T
|
p.Thr16=
|
- | 2.0 |
|
B | |
| 24307 | chr11 | 118436799 | C | T |
c.287C>T
|
p.Ser96Leu
|
3.0 |
|
B | ||
| 32537 | chr11 | 118436814 | C | T |
c.302C>T
|
p.Ser101Leu
|
- | 3.0 |
|
B | |
| 27734 | chr11 | 118436947 | A | G |
c.432+3A>G
|
-
|
- | 3.0 |
|
B | |
| 24828 | chr11 | 118471719 | C | T |
c.560C>T
|
p.Ser187Leu
|
- | 3.0 |
|
B | |
| 24829 | chr11 | 118471740 | C | A |
c.581C>A
|
p.Ser194Tyr
|
- | 3.0 |
|
B | |
| 24830 | chr11 | 118471776 | C | T |
c.617C>T
|
p.Ser206Phe
|
- | 3.0 |
|
B | |
| 32288 | chr11 | 118472202 | T | G |
c.1043T>G
|
p.Val348Gly
|
- | 3.0 |
|
B | |
| 18320 | chr11 | 118472243 | C | T |
c.1084C>T
|
p.Pro362Ser
|
3.0 |
|
B |