Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10406 | chr10 | 87957955 | C | T |
c.737C>T
|
p.Pro246Leu
|
3.5 |
|
B | ||
| 11861 | chr10 | 87957955 | CG | C |
c.738del
|
p.Leu247TyrfsTer9
|
- | 4.0 |
|
B | |
| 13565 | chr10 | 87957956 | G | GT |
c.740dup
|
p.Leu247PhefsTer6
|
- | 4.0 |
|
B | |
| 28342 | chr10 | 87957961 | CTG | C |
c.750_751del
|
p.Cys250TrpfsTer2
|
4.5 |
|
B | ||
| 8422 | chr10 | 87957973 | A | G |
c.755A>G
|
p.Asp252Gly
|
3.5 |
|
B | ||
| 8546 | chr10 | 87957976 | T | A |
c.758T>A
|
p.Ile253Asn
|
3.5 |
|
B | ||
| 458 | chr10 | 87957988 | T | C |
c.770T>C
|
p.Phe257Ser
|
- | 3.0 |
|
S | |
| 30493 | chr10 | 87957989 | CT | C |
c.773del
|
p.Phe258SerfsTer8
|
- | 4.0 |
|
B | |
| 7745 | chr10 | 87958005 | A | G |
c.787A>G
|
p.Lys263Glu
|
- | 3.0 |
|
B | |
| 401 | chr10 | 87958012 | TA | T |
c.800del
|
p.Lys267ArgfsTer9
|
4.67 |
|
A | ||
| 32076 | chr10 | 87958014 | A | T |
c.796A>T
|
p.Lys266Ter
|
4.5 |
|
B | ||
| 34269 | chr10 | 87958018 | AG | A |
c.801+1del
|
p.?
|
4.0 |
|
B | ||
| 17388 | chr10 | 87958019 | G | T |
c.801G>T
|
p.Lys267Asn
|
4.0 |
|
B | ||
| 402 | chr10 | 87958020 | G | T |
c.801+1G>T
|
p.?
|
4.67 |
|
A | ||
| 34438 | chr10 | 87958021 | T | A |
c.801+2T>A
|
p.?
|
4.5 |
|
B | ||
| 7866 | chr10 | 87960901 | T | C |
c.809T>C
|
p.Met270Thr
|
- | 3.0 |
|
B | |
| 2202 | chr10 | 87960910 | T | C |
c.818T>C
|
p.Phe273Ser
|
- | 3.0 |
|
B | |
| 9361 | chr10 | 87960912 | T | G |
c.820T>G
|
p.Trp274Gly
|
- | 3.0 |
|
B | |
| 32568 | chr10 | 87960914 | G | A |
c.822G>A
|
p.Trp274Ter
|
4.5 |
|
B | ||
| 23360 | chr10 | 87960916 | T | G |
c.824T>G
|
p.Val275Gly
|
- | 3.0 |
|
B |