Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33777 | chr17 | 39723470 | G | T |
c.2085+13G>T
|
-
|
- | 3.0 |
|
B | |
| 1126 | chr17 | 39723547 | C | G |
c.2095C>G
-
|
p.Pro699Ala
-
|
- | 3.0 |
|
B | |
| 18852 | chr17 | 39723967 | T | C |
c.2264T>C
-
|
p.Leu755Ser
-
|
4.5 |
|
B | ||
| 9444 | chr17 | 39724008 | G | A |
c.2305G>A
-
|
p.Asp769Asn
-
|
3.5 |
|
B | ||
| 1411 | chr17 | 39724008 | G | C |
c.2305G>C
-
|
p.Asp769His
-
|
4.5 |
|
B | ||
| 31714 | chr17 | 39724030 | C | G |
c.2307+20C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 13707 | chr17 | 39724722 | C | A |
c.2308-4C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 13998 | chr17 | 39724728 | A | AGCATACGTGATG |
c.2313_2324dup
-
|
p.Tyr772_Ala775dup
-
|
4.5 |
|
B | ||
| 31428 | chr17 | 39724747 | G | C |
c.2329G>C
-
|
p.Val777Leu
-
|
4.0 |
|
B | ||
| 15753 | chr17 | 39724747 | G | T |
c.2329G>T
-
|
p.Val777Leu
-
|
3.5 |
|
B | ||
| 21905 | chr17 | 39725076 | C | G |
c.2521C>G
-
|
p.Leu841Val
-
|
- | 3.0 |
|
B | |
| 5505 | chr17 | 39725079 | G | A |
c.2524G>A
-
|
p.Val842Ile
-
|
4.0 |
|
B | ||
| 9853 | chr17 | 39725100 | C | T |
c.2545C>T
-
|
p.Arg849Trp
-
|
- | 3.0 |
|
B | |
| 25464 | chr17 | 39725139 | A | G |
c.2584A>G
-
|
p.Thr862Ala
-
|
- | 3.5 |
|
B | |
| 496 | chr17 | 39725161 | T | G |
c.2606T>G
-
|
p.Leu869Arg
-
|
4.5 |
|
B | ||
| 25589 | chr17 | 39725694 | G | A |
c.2726-13G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 4060 | chr17 | 39725760 | C | T |
c.2779C>T
-
|
p.Pro927Ser
-
|
- | 3.0 |
|
B | |
| 9799 | chr17 | 39725770 | A | C |
c.2789A>C
-
|
p.Glu930Ala
-
|
- | 3.0 |
|
B | |
| 8896 | chr17 | 39726606 | G | T |
c.2917G>T
-
|
p.Val973Leu
-
|
- | 3.0 |
|
B | |
| 29165 | chr17 | 39726626 | G | A |
c.2937G>A
-
|
p.Met979Ile
-
|
- | 3.0 |
|
B |