Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30315 | chr8 | 70126970 | A | T |
c.3759T>A
|
p.His1253Gln
|
- | 3.0 |
|
B | |
| 22338 | chr8 | 70128687 | C | T |
c.3603+15G>A
|
-
|
3.0 |
|
B | ||
| 33422 | chr8 | 70128811 | T | TA |
c.3493dup
|
p.Tyr1165LeufsTer67
|
- | 3.0 |
|
B | |
| 20931 | chr8 | 70141189 | T | C |
c.3023A>G
|
p.Asn1008Ser
|
- | 3.0 |
|
B | |
| 20050 | chr8 | 70141204 | T | C |
c.3008A>G
|
p.Gln1003Arg
|
3.0 |
|
B | ||
| 15865 | chr8 | 70141225 | GGCTGGCTGCTGGGCCTCATGGGGAT | G |
c.2962_2986del
|
p.Ile988LeufsTer12
|
3.0 |
|
B | ||
| 17309 | chr8 | 70144813 | A | C |
c.2641T>G
|
p.Leu881Val
|
- | 3.0 |
|
B | |
| 31911 | chr8 | 70148356 | T | G |
c.2522A>C
|
p.Asn841Thr
|
- | 3.0 |
|
B | |
| 9581 | chr8 | 70148400 | C | G |
c.2478G>C
|
p.Arg826Ser
|
- | 3.0 |
|
B | |
| 31802 | chr8 | 70148474 | C | T |
c.2404G>A
|
p.Glu802Lys
|
- | 3.0 |
|
B | |
| 16902 | chr8 | 70156159 | T | C |
c.2206A>G
|
p.Ser736Gly
|
- | 3.0 |
|
B | |
| 28171 | chr8 | 70156167 | T | C |
c.2198A>G
|
p.Glu733Gly
|
- | 3.0 |
|
B | |
| 31442 | chr8 | 70156279 | C | T |
c.2086G>A
|
p.Asp696Asn
|
- | 3.0 |
|
B | |
| 25999 | chr8 | 70156280 | C | A |
c.2085G>T
|
p.Gln695His
|
- | 3.0 |
|
B | |
| 27673 | chr8 | 70156671 | G | A |
c.1694C>T
|
p.Ser565Phe
|
- | 3.0 |
|
B | |
| 29585 | chr8 | 70156863 | C | A |
c.1502G>T
|
p.Arg501Leu
|
- | 3.0 |
|
B | |
| 35080 | chr8 | 70156977 | T | C |
c.1388A>G
|
p.Tyr463Cys
|
3.0 |
|
B | ||
| 23635 | chr8 | 70157238 | T | C |
c.1127A>G
|
p.Glu376Gly
|
- | 3.0 |
|
B | |
| 33539 | chr8 | 70159503 | A | C |
c.1124+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 21875 | chr8 | 70162782 | C | A |
c.905G>T
|
p.Arg302Met
|
- | 3.0 |
|
B |