Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1271 | chr6 | 10404548 | C | A |
c.730G>T
|
p.Glu244Ter
|
- | 3.0 |
|
B | |
| 22733 | chr6 | 10404609 | G | C |
c.669C>G
|
p.Leu223=
|
- | 3.0 |
|
B | |
| 8068 | chr6 | 10404655 | T | C |
c.623A>G
|
p.Asn208Ser
|
- | 3.0 |
|
B | |
| 1891 | chr6 | 10404731 | A | G |
c.547T>C
|
p.Ser183Pro
|
- | 3.0 |
|
B | |
| 26086 | chr6 | 10406776 | A | G |
c.538+17T>C
|
-
|
3.0 |
|
B | ||
| 10404 | chr6 | 10410001 | T | C |
c.386A>G
|
p.Tyr129Cys
|
3.0 |
|
B | ||
| 9578 | chr6 | 10410005 | C | T |
c.382G>A
|
p.Asp128Asn
|
- | 3.0 |
|
B | |
| 10149 | chr6 | 10410043 | C | T |
c.344G>A
|
p.Gly115Glu
|
- | 3.0 |
|
B | |
| 20738 | chr6 | 10410071 | C | T |
c.316G>A
|
p.Glu106Lys
|
- | 3.0 |
|
B | |
| 21380 | chr6 | 10410109 | G | T |
c.278C>A
|
p.Pro93Gln
|
- | 3.0 |
|
B | |
| 22001 | chr6 | 10410281 | C | G |
c.106G>C
|
p.Val36Leu
|
- | 3.0 |
|
B | |
| 34333 | chr6 | 10410291 | C | T |
c.96G>A
|
p.Gln32=
|
- | 3.0 |
|
B | |
| 25621 | chr6 | 10412605 | G | A |
c.52-2270C>T
|
-
|
3.0 |
|
B | ||
| 16446 | chr6 | 10414934 | C | T |
c.51+7G>A
|
-
|
- | 3.0 |
|
B | |
| 12949 | chr6 | 10419414 | G | A |
-
|
-
|
3.0 |
|
B | ||
| 20598 | chr6 | 10419427 | C | G |
-
|
-
|
- | 3.0 |
|
B | |
| 22085 | chr6 | 10419431 | A | G |
-
|
-
|
- | 3.0 |
|
B | |
| 31141 | chr6 | 10756630 | TA | T |
c.*123del
|
-
|
3.0 |
|
B | ||
| 3396 | chr6 | 11768344 | C | T |
c.193G>A
|
p.Asp65Asn
|
- | 3.0 |
|
B | |
| 7886 | chr6 | 18130705 | C | CA |
c.700dup
|
p.Cys234LeufsTer4
|
- | 3.0 |
|
B |