Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12187 | chr11 | 57803734 | C | T |
c.1534C>T
|
p.Pro512Ser
|
- | 3.0 |
|
B | |
| 12188 | chr11 | 57803735 | C | T |
c.1535C>T
|
p.Pro512Leu
|
- | 3.0 |
|
B | |
| 1179 | chr11 | 57804694 | C | T |
c.1636C>T
|
p.Arg546Trp
|
3.0 |
|
B | ||
| 33241 | chr11 | 57804700 | CT | C |
c.1644del
|
p.Arg549GlyfsTer6
|
- | 3.5 |
|
B | |
| 420 | chr11 | 57804780 | G | C |
c.1722G>C
|
p.Lys574Asn
|
- | 3.67 |
|
A | |
| 13568 | chr11 | 57805843 | G | A |
c.1723-39G>A
|
-
|
- | 3.0 |
|
B | |
| 17105 | chr11 | 57808420 | C | T |
c.2122C>T
|
p.Gln708Ter
|
- | 3.0 |
|
B | |
| 15999 | chr11 | 57809420 | C | T |
c.2389C>T
|
p.Arg797Ter
|
- | 3.0 |
|
B | |
| 11088 | chr11 | 57809429 | C | T |
c.2398C>T
|
p.Gln800Ter
|
- | 3.0 |
|
B | |
| 6499 | chr11 | 57809456 | A | G |
c.2425A>G
|
p.Asn809Asp
|
- | 3.0 |
|
B | |
| 6942 | chr11 | 57809462 | T | C |
c.2431T>C
|
p.Ser811Pro
|
- | 3.0 |
|
B | |
| 421 | chr11 | 57810108 | G | A |
c.2436-1G>A
|
p.?
|
- | 3.67 |
|
A | |
| 1413 | chr11 | 57810121 | AAAAG | A |
c.2451_2454del
|
p.Glu818PhefsTer33
|
- | 3.5 |
|
B | |
| 4945 | chr11 | 57810131 | C | T |
c.2458C>T
|
p.Arg820Ter
|
- | 3.0 |
|
B | |
| 25099 | chr11 | 57810135 | C | G |
c.2462C>G
|
p.Ala821Gly
|
- | 3.0 |
|
B | |
| 13509 | chr11 | 57815375 | C | CT |
c.2702-7dup
|
-
|
2.5 |
|
B | ||
| 19650 | chr11 | 57815375 | CT | C |
c.2702-7del
|
-
|
3.0 |
|
B | ||
| 20094 | chr11 | 57815375 | CTT | C |
c.2702-8_2702-7del
|
-
|
2.5 |
|
B | ||
| 10186 | chr11 | 57815925 | G | A |
c.2819G>A
|
p.Gly940Glu
|
- | 3.0 |
|
B | |
| 3315 | chr11 | 58439563 | T | A |
c.589A>T
|
p.Ile197Phe
|
3.0 |
|
B |