Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9426 | chr10 | 128101451 | T | C |
c.9512A>G
|
p.Glu3171Gly
|
- | 3.0 |
|
B | |
| 8116 | chr10 | 128101452 | C | T |
c.9511G>A
|
p.Glu3171Lys
|
- | 3.0 |
|
B | |
| 18708 | chr10 | 128101508 | T | C |
c.9455A>G
|
p.Asn3152Ser
|
3.0 |
|
B | ||
| 34480 | chr10 | 128102642 | G | T |
c.9198C>A
|
p.Asn3066Lys
|
- | 3.0 |
|
B | |
| 27533 | chr10 | 128102787 | G | A |
c.9053C>T
|
p.Pro3018Leu
|
- | 3.0 |
|
B | |
| 20370 | chr10 | 128103206 | C | A |
c.8634G>T
|
p.Glu2878Asp
|
- | 3.0 |
|
B | |
| 9116 | chr10 | 128103246 | G | A |
c.8594C>T
|
p.Ser2865Leu
|
- | 3.0 |
|
B | |
| 34816 | chr10 | 128103512 | T | A |
c.8328A>T
|
p.Pro2776=
|
- | 3.0 |
|
B | |
| 14835 | chr10 | 128104075 | G | A |
c.7765C>T
|
p.Pro2589Ser
|
- | 3.0 |
|
B | |
| 13572 | chr10 | 128104092 | T | C |
c.7748A>G
|
p.Lys2583Arg
|
- | 3.0 |
|
B | |
| 11661 | chr10 | 128104106 | AAT | A |
c.7732_7733del
|
p.Ile2578Ter
|
- | 3.0 |
|
B | |
| 10096 | chr10 | 128104149 | T | C |
c.7691A>G
|
p.Glu2564Gly
|
- | 3.0 |
|
B | |
| 24988 | chr10 | 128104409 | GCTT | G |
c.7428_7430del
|
p.Arg2476del
|
3.0 |
|
B | ||
| 1451 | chr10 | 128104987 | T | C |
c.6853A>G
|
p.Thr2285Ala
|
- | 3.0 |
|
B | |
| 17962 | chr10 | 128105203 | G | C |
c.6637C>G
|
p.His2213Asp
|
3.0 |
|
B | ||
| 17963 | chr10 | 128105223 | CATA | C |
c.6614_6616del
|
p.Ile2205_Cys2206delinsSer
|
3.0 |
|
B | ||
| 17964 | chr10 | 128105227 | T | C |
c.6613A>G
|
p.Ile2205Val
|
2.0 |
|
B | ||
| 518 | chr10 | 128105230 | G | C |
c.6610C>G
|
p.Pro2204Ala
|
2.5 |
|
B | ||
| 28663 | chr10 | 128105285 | C | A |
c.6555G>T
|
p.Lys2185Asn
|
- | 3.0 |
|
B | |
| 981 | chr10 | 128105295 | C | G |
c.6545G>C
|
p.Arg2182Thr
|
- | 3.0 |
|
B |