Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16837 | chr17 | 64500674 | C | T |
c.1316G>A
-
|
p.Gly439Asp
-
|
- | 3.0 |
|
B | |
| 8398 | chr17 | 64502180 | G | C |
-
c.1138C>G
|
-
p.Arg380Gly
|
- | 3.0 |
|
B | |
| 13283 | chr17 | 64502508 | T | G |
-
c.1025A>C
|
-
p.Asn342Thr
|
- | 3.0 |
|
B | |
| 12204 | chr17 | 64503116 | G | A |
-
c.811-18C>T
|
-
-
|
3.0 |
|
B | ||
| 1105 | chr17 | 64503259 | G | A |
-
c.739C>T
|
-
p.Leu247Phe
|
- | 3.0 |
|
B | |
| 25894 | chr17 | 64503286 | T | A |
-
c.712A>T
|
-
p.Asn238Tyr
|
- | 3.0 |
|
B | |
| 33735 | chr17 | 64503309 | T | C |
-
c.689A>G
|
-
p.Asp230Gly
|
- | 3.0 |
|
B | |
| 8171 | chr17 | 64503324 | G | C |
-
c.674C>G
|
-
p.Pro225Arg
|
- | 3.0 |
|
B | |
| 14422 | chr17 | 64503558 | GCCAGCA | G |
-
c.515_520del
|
-
p.Val172_Leu173del
|
- | 3.0 |
|
B | |
| 25547 | chr17 | 64503859 | G | A |
-
c.451C>T
|
-
p.Pro151Ser
|
3.0 |
|
B | ||
| 28177 | chr17 | 64504100 | A | G |
-
c.324T>C
|
-
p.Val108=
|
- | 3.0 |
|
B | |
| 4072 | chr17 | 64504755 | CTT | C |
-
c.130_131del
|
-
p.Lys44GlufsTer5
|
- | 3.0 |
|
B | |
| 30720 | chr17 | 64504774 | C | T |
-
c.113G>A
|
-
p.Gly38Glu
|
- | 3.0 |
|
B | |
| 1987 | chr17 | 64506086 | G | A |
-
c.34C>T
|
-
p.Arg12Trp
|
3.0 |
|
B | ||
| 10510 | chr17 | 65014390 | C | T |
c.1001G>A
|
p.Arg334His
|
3.0 |
|
B | ||
| 33543 | chr17 | 65014633 | T | A |
c.758A>T
|
p.Asp253Val
|
- | 3.0 |
|
B | |
| 29906 | chr17 | 65014737 | G | C |
c.654C>G
|
p.Phe218Leu
|
- | 3.0 |
|
B | |
| 4913 | chr17 | 65053617 | G | C |
c.395C>G
|
p.Ala132Gly
|
- | 3.0 |
|
B | |
| 21806 | chr17 | 65053641 | G | A |
c.371C>T
|
p.Ser124Leu
|
3.0 |
|
B | ||
| 33544 | chr17 | 65056394 | T | A |
c.200A>T
|
p.Gln67Leu
|
- | 3.0 |
|
B |