Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34145 | chr2 | 178779381 | G | C |
c.3811C>G
|
p.Leu1271Val
|
3.0 |
|
B | ||
| 24930 | chr2 | 178779426 | T | C |
c.3766A>G
|
p.Lys1256Glu
|
3.0 |
|
B | ||
| 16579 | chr2 | 178780002 | G | A |
c.3727C>T
|
p.Gln1243Ter
|
- | 3.0 |
|
B | |
| 25616 | chr2 | 178780074 | C | T |
c.3655G>A
|
p.Glu1219Lys
|
- | 3.0 |
|
B | |
| 29609 | chr2 | 178780086 | C | T |
c.3643G>A
|
p.Glu1215Lys
|
3.0 |
|
B | ||
| 31352 | chr2 | 178780134 | C | A |
c.3595G>T
|
p.Glu1199Ter
|
- | 3.0 |
|
B | |
| 13391 | chr2 | 178780181 | G | A |
c.3548C>T
|
p.Ser1183Phe
|
- | 3.0 |
|
B | |
| 26937 | chr2 | 178781153 | T | C |
c.3491A>G
|
p.Glu1164Gly
|
- | 3.0 |
|
B | |
| 11611 | chr2 | 178781189 | C | T |
c.3455G>A
|
p.Gly1152Glu
|
- | 3.0 |
|
B | |
| 21606 | chr2 | 178782309 | C | T |
c.3283G>A
|
p.Glu1095Lys
|
- | 3.0 |
|
B | |
| 12115 | chr2 | 178782431 | G | A |
c.3165-4C>T
|
-
|
- | 2.5 |
|
B | |
| 22275 | chr2 | 178782558 | A | G |
c.3145T>C
|
p.Phe1049Leu
|
2.0 |
|
B | ||
| 13504 | chr2 | 178782575 | G | T |
c.3128C>A
|
p.Thr1043Lys
|
- | 3.0 |
|
B | |
| 14875 | chr2 | 178782582 | C | T |
c.3121G>A
|
p.Glu1041Lys
|
3.0 |
|
B | ||
| 12670 | chr2 | 178782838 | G | A |
c.3068C>T
|
p.Thr1023Ile
|
- | 3.0 |
|
B | |
| 14186 | chr2 | 178782871 | C | T |
c.3035G>A
|
p.Arg1012Gln
|
2.5 |
|
B | ||
| 32454 | chr2 | 178782903 | C | T |
c.3003G>A
|
p.Met1001Ile
|
3.0 |
|
B | ||
| 19396 | chr2 | 178782923 | T | G |
c.2983A>C
|
p.Ser995Arg
|
- | 3.0 |
|
B | |
| 17566 | chr2 | 178782956 | C | T |
c.2950G>A
|
p.Glu984Lys
|
3.0 |
|
B | ||
| 33640 | chr2 | 178782992 | G | A |
c.2914C>T
|
p.Pro972Ser
|
- | 3.0 |
|
B |