Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6193 | chr6 | 397176 | C | A |
c.561C>A
|
p.His187Gln
|
- | 3.0 |
|
B | |
| 22864 | chr6 | 397187 | C | T |
c.572C>T
|
p.Pro191Leu
|
- | 3.0 |
|
B | |
| 26905 | chr6 | 398834 | A | T |
c.644A>T
|
p.Gln215Leu
|
- | 3.0 |
|
B | |
| 5679 | chr6 | 398927 | C | T |
c.737C>T
|
p.Ala246Val
|
3.0 |
|
B | ||
| 22732 | chr6 | 401781 | A | T |
c.1099+4A>T
|
-
|
- | 3.0 |
|
B | |
| 11932 | chr6 | 405012 | C | G |
c.1100-6C>G
|
-
|
- | 3.0 |
|
B | |
| 1030 | chr6 | 405045 | G | A |
c.1127G>A
|
p.Arg376His
|
3.0 |
|
B | ||
| 18446 | chr6 | 407442 | T | C |
c.1213-13T>C
|
-
|
2.5 |
|
B | ||
| 10329 | chr6 | 1312763 | T | C |
c.59T>C
|
p.Leu20Pro
|
1.5 |
|
B | ||
| 28157 | chr6 | 1312998 | AGGCGCGGGC | A |
c.303_311del
|
p.Gly102_Gly104del
|
3.0 |
|
B | ||
| 21574 | chr6 | 1313019 | C | T |
c.315C>T
|
p.Ser105=
|
- | 3.0 |
|
B | |
| 31816 | chr6 | 1313061 | G | GC |
c.363dup
|
p.Tyr122LeufsTer327
|
- | 3.0 |
|
B | |
| 31817 | chr6 | 1313072 | C | A |
c.368C>A
|
p.Ser123Ter
|
- | 3.0 |
|
B | |
| 11099 | chr6 | 1313166 | CT | C |
c.467del
|
p.Phe156SerfsTer247
|
3.0 |
|
B | ||
| 22573 | chr6 | 1313175 | C | T |
c.471C>T
|
p.Arg157=
|
- | 3.0 |
|
B | |
| 26272 | chr6 | 1313216 | T | A |
c.512T>A
|
p.Leu171His
|
- | 3.0 |
|
B | |
| 15901 | chr6 | 1313289 | G | T |
c.585G>T
|
p.Met195Ile
|
- | 3.0 |
|
B | |
| 11901 | chr6 | 1313370 | C | T |
c.666C>T
|
p.Val222=
|
3.0 |
|
B | ||
| 15513 | chr6 | 1313392 | G | A |
c.688G>A
|
p.Glu230Lys
|
3.0 |
|
B | ||
| 2298 | chr6 | 1313585 | C | T |
c.881C>T
|
p.Thr294Met
|
3.0 |
|
B |