Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18596 | chr11 | 102324811 | C | T |
c.302C>T
|
p.Ser101Phe
|
- | 3.0 |
|
B | |
| 9285 | chr11 | 102324942 | C | T |
c.433C>T
|
p.Pro145Ser
|
- | 3.0 |
|
B | |
| 29504 | chr11 | 102325348 | G | C |
c.839G>C
|
p.Gly280Ala
|
- | 3.0 |
|
B | |
| 7116 | chr11 | 102325531 | G | A |
c.919G>A
|
p.Asp307Asn
|
- | 3.0 |
|
B | |
| 13221 | chr11 | 102326785 | G | A |
c.953+1220G>A
|
-
|
3.0 |
|
B | ||
| 34907 | chr11 | 102328093 | G | T |
c.995G>T
|
p.Arg332Leu
|
- | 3.0 |
|
B | |
| 7086 | chr11 | 102328125 | G | A |
c.1027G>A
|
p.Glu343Lys
|
3.0 |
|
B | ||
| 14246 | chr11 | 102328910 | C | G |
c.1046C>G
|
p.Ser349Ter
|
- | 3.5 |
|
B | |
| 2955 | chr11 | 102336149 | G | A |
c.1508G>A
|
p.Gly503Glu
|
3.0 |
|
B | ||
| 15232 | chr11 | 102336154 | A | G |
c.1513A>G
|
p.Ile505Val
|
- | 3.0 |
|
B | |
| 10041 | chr11 | 102336792 | G | A |
c.1612G>A
|
p.Asp538Asn
|
- | 3.0 |
|
B | |
| 10042 | chr11 | 102336801 | G | C |
c.1621G>C
|
p.Asp541His
|
- | 3.0 |
|
B | |
| 11623 | chr11 | 102336947 | G | C |
c.1660G>C
|
p.Glu554Gln
|
- | 3.0 |
|
B | |
| 10043 | chr11 | 102337025 | G | C |
c.1738G>C
|
p.Asp580His
|
- | 3.0 |
|
B | |
| 10674 | chr11 | 102337052 | C | G |
c.1765C>G
|
p.Pro589Ala
|
3.0 |
|
B | ||
| 27524 | chr11 | 102337060 | T | G |
c.1773T>G
|
p.Cys591Trp
|
- | 3.0 |
|
B | |
| 10044 | chr11 | 102337101 | G | T |
c.1814G>T
|
p.Ter605LeuextTer10
|
- | 3.0 |
|
B | |
| 3684 | chr11 | 102609048 | G | T |
c.700C>A
|
p.Leu234Met
|
- | 3.0 |
|
B | |
| 3685 | chr11 | 102609053 | A | T |
c.695T>A
|
p.Leu232Gln
|
- | 3.0 |
|
B | |
| 5197 | chr11 | 103156650 | A | G |
c.4007A>G
|
p.Asp1336Gly
|
- | 3.0 |
|
B |