Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11714 | chr11 | 108354827 | A | G |
c.8803A>G
|
p.Met2935Val
|
- | 3.0 |
|
B | |
| 15598 | chr11 | 108365111 | G | C |
c.8880G>C
|
p.Trp2960Cys
|
3.0 |
|
B | ||
| 11662 | chr11 | 108365133 | T | TTGTA |
c.8904_8907dup
|
p.Leu2970ValfsTer9
|
- | 4.0 |
|
B | |
| 14108 | chr11 | 108365217 | A | C |
c.8986A>C
|
p.Ser2996Arg
|
- | 3.0 |
|
B | |
| 12037 | chr11 | 108365354 | C | T |
c.9017C>T
|
p.Ala3006Val
|
3.0 |
|
B | ||
| 439 | chr11 | 108365359 | C | T |
c.9022C>T
|
p.Arg3008Cys
|
4.67 |
|
A | ||
| 8407 | chr11 | 108365360 | G | A |
c.9023G>A
|
p.Arg3008His
|
3.0 |
|
B | ||
| 27281 | chr11 | 108365380 | G | A |
c.9043G>A
|
p.Glu3015Lys
|
3.0 |
|
B | ||
| 24375 | chr11 | 108365382 | G | C |
c.9045G>C
|
p.Glu3015Asp
|
- | 2.5 |
|
B | |
| 9413 | chr11 | 108365440 | C | T |
c.9103C>T
|
p.Leu3035Phe
|
4.0 |
|
B | ||
| 12399 | chr11 | 108365473 | A | C |
c.9136A>C
|
p.Ser3046Arg
|
- | 3.5 |
|
B | |
| 24568 | chr11 | 108365485 | C | T |
c.9148C>T
|
p.Pro3050Ser
|
- | 3.0 |
|
B | |
| 4086 | chr11 | 108498203 | A | C |
c.164T>G
|
p.Val55Gly
|
- | 3.0 |
|
B | |
| 13492 | chr11 | 112086919 | C | T |
-
c.12C>T
-
|
-
p.Leu4=
-
|
- | 2.0 |
|
B | |
| 19085 | chr11 | 112088939 | C | T |
-
c.242C>T
-
|
-
p.Pro81Leu
-
|
4.0 |
|
B | ||
| 14144 | chr11 | 112170542 | A | T |
-
c.175+12A>T
|
-
-
|
- | 3.0 |
|
B | |
| 16410 | chr11 | 112961554 | AG | A |
c.-49del
|
-
|
3.0 |
|
B | ||
| 18140 | chr11 | 112961563 | G | A |
c.-50G>A
|
-
|
3.0 |
|
B | ||
| 1433 | chr11 | 114063334 | C | T |
c.34C>T
|
p.Gln12Ter
|
- | 4.0 |
|
B | |
| 3224 | chr11 | 114063377 | AGATGCGGCTGGCC | A |
c.79_91del
|
p.Met27GlyfsTer89
|
- | 4.0 |
|
B |