Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3970 | chr1 | 186679360 | C | G |
c.131G>C
|
p.Cys44Ser
|
- | 3.0 |
|
B | |
| 1678 | chr1 | 186679420 | TGGGAACAGCAA | T |
c.60_70del
|
p.Cys21ProfsTer14
|
- | 3.0 |
|
B | |
| 1679 | chr1 | 186679434 | A | AACT |
c.56_57insAGT
|
p.Asn19delinsLysVal
|
- | 3.0 |
|
B | |
| 33873 | chr1 | 186680234 | C | T |
c.52+5G>A
|
-
|
3.0 |
|
B | ||
| 18215 | chr1 | 186680291 | C | T |
c.-1G>A
|
-
|
- | 3.0 |
|
B | |
| 12615 | chr1 | 186680302 | G | C |
c.-12C>G
|
-
|
- | 3.0 |
|
B | |
| 19369 | chr1 | 193069046 | CA | C |
c.1del
|
p.Met1?
|
3.0 |
|
B | ||
| 29283 | chr1 | 193122269 | C | A |
c.69C>A
|
p.Asp23Glu
|
- | 3.0 |
|
B | |
| 6432 | chr1 | 193122299 | CA | C |
c.101del
|
p.Lys34ArgfsTer3
|
- | 4.0 |
|
B | |
| 24242 | chr1 | 193124990 | CT | C |
c.132-113del
|
-
|
3.0 |
|
B | ||
| 13315 | chr1 | 193125162 | T | A |
c.182T>A
|
p.Leu61Ter
|
- | 4.0 |
|
B | |
| 9251 | chr1 | 193130204 | G | A |
c.268G>A
|
p.Asp90Asn
|
- | 3.0 |
|
B | |
| 111 | chr1 | 193130207 | C | T |
c.271C>T
|
p.Arg91Ter
|
5.0 |
|
B | ||
| 35299 | chr1 | 193130208 | G | A |
c.272G>A
|
p.Arg91Gln
|
- | 3.0 |
|
B | |
| 6208 | chr1 | 193130227 | T | A |
c.291T>A
|
p.Tyr97Ter
|
- | 4.0 |
|
B | |
| 35300 | chr1 | 193135582 | G | A |
c.416G>A
|
p.Arg139Gln
|
3.0 |
|
B | ||
| 24493 | chr1 | 193138100 | C | T |
c.439C>T
|
p.Arg147Cys
|
- | 3.0 |
|
B | |
| 2684 | chr1 | 193141903 | T | G |
c.566T>G
|
p.Ile189Ser
|
- | 3.0 |
|
B | |
| 20991 | chr1 | 193142011 | T | C |
c.674T>C
|
p.Val225Ala
|
- | 3.0 |
|
B | |
| 23998 | chr1 | 193142035 | CACGAACAACTATCTT | C |
c.701_715del
|
p.Arg234_Leu238del
|
- | 3.0 |
|
B |