Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13096 | chr17 | 39462771 | G | C |
c.700G>C
|
p.Asp234His
|
- | 3.0 |
|
B | |
| 30200 | chr17 | 39462806 | T | A |
c.735T>A
|
p.Asp245Glu
|
- | 3.0 |
|
B | |
| 14541 | chr17 | 39462906 | TAC | T |
c.837_838del
|
p.Tyr279Ter
|
- | 4.0 |
|
B | |
| 28604 | chr17 | 39463036 | G | A |
c.965G>A
|
p.Arg322Gln
|
- | 3.0 |
|
B | |
| 3174 | chr17 | 39463119 | T | G |
c.1046+2T>G
|
p.?
|
- | 4.0 |
|
B | |
| 10508 | chr17 | 39470877 | A | T |
c.1047-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 11448 | chr17 | 39470889 | A | T |
c.1057A>T
|
p.Met353Leu
|
- | 3.0 |
|
B | |
| 9584 | chr17 | 39470965 | G | A |
c.1133G>A
|
p.Arg378His
|
3.0 |
|
B | ||
| 28968 | chr17 | 39471049 | G | C |
c.1217G>C
|
p.Arg406Thr
|
- | 3.0 |
|
B | |
| 13254 | chr17 | 39471073 | A | C |
c.1241A>C
|
p.Lys414Thr
|
- | 3.0 |
|
B | |
| 20158 | chr17 | 39471096 | G | T |
c.1264G>T
|
p.Gly422Cys
|
- | 3.0 |
|
B | |
| 30295 | chr17 | 39471118 | G | A |
c.1286G>A
|
p.Arg429Lys
|
- | 3.0 |
|
B | |
| 500 | chr17 | 39471150 | T | G |
c.1318T>G
|
p.Ser440Ala
|
- | 3.0 |
|
B | |
| 501 | chr17 | 39471189 | T | G |
c.1357T>G
|
p.Leu453Val
|
- | 3.0 |
|
B | |
| 5993 | chr17 | 39471243 | G | C |
c.1411G>C
|
p.Glu471Gln
|
- | 3.0 |
|
B | |
| 5994 | chr17 | 39471282 | G | C |
c.1450G>C
|
p.Asp484His
|
- | 3.0 |
|
B | |
| 18416 | chr17 | 39471498 | C | T |
c.1666C>T
|
p.Pro556Ser
|
3.0 |
|
B | ||
| 17384 | chr17 | 39490573 | C | T |
c.1948C>T
|
p.Pro650Ser
|
3.0 |
|
B | ||
| 33218 | chr17 | 39490598 | AG | A |
c.1975del
|
p.Glu659AsnfsTer94
|
- | 4.0 |
|
B | |
| 10215 | chr17 | 39490630 | C | T |
c.2005C>T
|
p.Leu669Phe
|
- | 3.0 |
|
B |