Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11628 | chr17 | 80957624 | G | C |
c.3371G>C
|
p.Gly1124Ala
|
- | 3.0 |
|
B | |
| 11398 | chr17 | 80961381 | C | T |
c.3606-13C>T
|
-
|
- | 3.0 |
|
B | |
| 24710 | chr17 | 80961408 | A | G |
c.3620A>G
|
p.Tyr1207Cys
|
- | 3.0 |
|
B | |
| 11449 | chr17 | 80962516 | C | T |
c.3748C>T
|
p.Leu1250Phe
|
- | 3.0 |
|
B | |
| 31931 | chr17 | 80962920 | C | T |
c.3810-8C>T
|
-
|
3.0 |
|
B | ||
| 32527 | chr17 | 80963051 | GCA | G |
c.3935_3936del
|
p.His1312LeufsTer27
|
- | 3.0 |
|
B | |
| 8633 | chr17 | 80964327 | A | T |
c.4005A>T
|
p.Arg1335Ser
|
- | 3.0 |
|
B | |
| 15272 | chr17 | 81894563 | C | T |
-
c.86C>T
|
-
p.Ala29Val
|
3.0 |
|
B | ||
| 9974 | chr17 | 81977646 | A | T |
c.-1A>T
|
-
|
- | 3.0 |
|
B | |
| 23094 | chr17 | 81979164 | T | C |
c.103-20T>C
|
-
|
- | 3.0 |
|
B | |
| 20884 | chr17 | 81983675 | C | T |
c.273+7C>T
|
-
|
3.0 |
|
B | ||
| 15636 | chr17 | 81994821 | G | A |
c.375G>A
|
p.Arg125=
|
- | 3.0 |
|
B | |
| 29516 | chr17 | 81995000 | A | G |
c.432+122A>G
|
-
|
3.0 |
|
B | ||
| 18465 | chr17 | 81996473 | C | CG |
c.561dup
|
p.Ser188ValfsTer81
|
- | 3.0 |
|
B | |
| 16622 | chr17 | 81996643 | C | T |
c.730C>T
|
p.Pro244Ser
|
3.0 |
|
B | ||
| 32156 | chr17 | 82009034 | CAGCCCGTGGACCGGG | C |
c.951_965del
|
p.Asp319_Val323del
|
2.5 |
|
B | ||
| 35033 | chr17 | 82011563 | G | A |
c.1258G>A
|
p.Val420Met
|
3.0 |
|
B | ||
| 21946 | chr17 | 82011619 | C | G |
c.1300+14C>G
|
-
|
3.0 |
|
B | ||
| 29998 | chr17 | 82016515 | G | A |
c.1393G>A
-
|
p.Glu465Lys
-
|
2.5 |
|
B | ||
| 4772 | chr17 | 82113344 | T | C |
c.2900-11478A>G
|
-
|
- | 3.0 |
|
B |