Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26308 | chr19 | 15174413 | G | A |
c.4404-13C>T
|
-
|
- | 3.0 |
|
B | |
| 2319 | chr19 | 15177663 | C | A |
c.4265G>T
|
p.Gly1422Val
|
- | 3.0 |
|
B | |
| 25083 | chr19 | 15179008 | C | T |
c.3718+17G>A
|
-
|
3.0 |
|
B | ||
| 8661 | chr19 | 15179170 | G | T |
c.3573C>A
|
p.Cys1191Ter
|
- | 4.0 |
|
B | |
| 6686 | chr19 | 15179196 | C | T |
c.3547G>A
|
p.Val1183Met
|
1.0 |
|
B | ||
| 17553 | chr19 | 15179396 | C | T |
c.3428G>A
|
p.Arg1143His
|
2.0 |
|
B | ||
| 31328 | chr19 | 15179513 | G | C |
c.3328-17C>G
|
-
|
3.0 |
|
B | ||
| 567 | chr19 | 15180066 | C | A |
c.3327+6G>T
|
-
|
- | 3.0 |
|
B | |
| 11848 | chr19 | 15180747 | G | A |
c.3076C>T
|
p.Pro1026Ser
|
3.0 |
|
B | ||
| 5039 | chr19 | 15180807 | G | A |
c.3016C>T
|
p.Arg1006Cys
|
3.0 |
|
B | ||
| 23535 | chr19 | 15180973 | GC | G |
c.2981del
|
p.Gly994AlafsTer278
|
4.0 |
|
B | ||
| 29032 | chr19 | 15181055 | A | T |
c.2900T>A
|
p.Leu967His
|
3.0 |
|
B | ||
| 1655 | chr19 | 15181127 | A | T |
c.2828T>A
|
p.Val943Glu
|
- | 3.0 |
|
B | |
| 15483 | chr19 | 15181181 | G | A |
c.2793-19C>T
|
-
|
- | 3.0 |
|
B | |
| 1533 | chr19 | 15181720 | C | T |
c.2648G>A
|
p.Arg883Gln
|
3.0 |
|
B | ||
| 29008 | chr19 | 15184295 | T | TGTGACCCCAGTGAGTGCAGGGGAGCTCTTG |
c.2565_2566insCAAGAGCTCCCCTGCACTCACTGGGGTCAC
|
p.Pro855_Asn856insGlnGluLeuProCysThrHisTrpGlyHis
|
- | 3.0 |
|
B | |
| 24429 | chr19 | 15184923 | C | T |
c.2393G>A
|
p.Cys798Tyr
|
3.0 |
|
B | ||
| 23886 | chr19 | 15185302 | T | A |
c.2251A>T
|
p.Ser751Cys
|
- | 3.0 |
|
B | |
| 2320 | chr19 | 15185483 | T | C |
c.2144+4A>G
|
-
|
- | 3.0 |
|
B | |
| 11849 | chr19 | 15185487 | C | T |
c.2144G>A
|
p.Gly715Glu
|
- | 3.0 |
|
B |