Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25510 | chr17 | 43115765 | T | G |
c.95A>C
|
p.Lys32Thr
|
3.0 |
|
B | ||
| 31012 | chr17 | 43115792 | G | A |
c.81-13C>T
|
-
|
2.0 |
|
B | ||
| 24260 | chr17 | 43169872 | GT | G |
-
|
-
|
3.0 |
|
B | ||
| 1841 | chr17 | 43528527 | A | G |
-
c.1447T>C
|
-
p.Ser483Pro
|
3.0 |
|
B | ||
| 27906 | chr17 | 43528533 | C | T |
-
c.1441G>A
|
-
p.Gly481Ser
|
- | 3.0 |
|
B | |
| 12644 | chr17 | 43528641 | C | G |
-
c.1333G>C
|
-
p.Asp445His
|
- | 3.0 |
|
B | |
| 11891 | chr17 | 43532662 | C | T |
c.811+12G>A
|
-
|
- | 3.0 |
|
B | |
| 34431 | chr17 | 43532889 | C | T |
c.596G>A
|
p.Gly199Glu
|
3.0 |
|
B | ||
| 32751 | chr17 | 43532914 | T | A |
c.571A>T
|
p.Ile191Phe
|
- | 3.0 |
|
B | |
| 1732 | chr17 | 43533947 | G | T |
c.295C>A
|
p.Pro99Thr
|
- | 3.0 |
|
B | |
| 24535 | chr17 | 43536464 | C | G |
c.218G>C
|
p.Ser73Thr
|
- | 3.0 |
|
B | |
| 20625 | chr17 | 43545340 | C | A |
c.88G>T
|
p.Glu30Ter
|
3.0 |
|
B | ||
| 17087 | chr17 | 43545376 | AGC | A |
c.61-11_61-10del
|
-
|
- | 3.0 |
|
B | |
| 3717 | chr17 | 44558196 | CCGGGACTGCAGCCGGGTG | C |
c.510_527del
|
p.Leu172_Gly177del
|
- | 3.0 |
|
B | |
| 3718 | chr17 | 44558219 | G | GCCACCCGGGGTGCCCCC |
c.531_532insCCACCCGGGGTGCCCCC
|
p.Gly178ProfsTer97
|
- | 3.0 |
|
B | |
| 3719 | chr17 | 44558226 | CCGGGT | C |
c.539_543del
|
p.Pro180ArgfsTer39
|
- | 3.0 |
|
B | |
| 3720 | chr17 | 44558234 | C | CTGCAGT |
c.546_547insTGCAGT
|
p.Gly182_Pro183insCysSer
|
- | 3.0 |
|
B | |
| 26320 | chr17 | 45151311 | A | C |
c.*1041A>C
|
-
|
3.0 |
|
B | ||
| 27780 | chr17 | 45267073 | G | A |
c.2433+19C>T
-
|
-
-
|
2.0 |
|
B | ||
| 16382 | chr17 | 45267087 | C | A |
c.2433+5G>T
-
|
-
-
|
- | 3.0 |
|
B |