Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12275 | chr7 | 81726016 | C | T |
c.1042G>A
|
p.Asp348Asn
|
- | 3.0 |
|
B | |
| 24611 | chr7 | 81729663 | G | C |
c.982C>G
|
p.Arg328Gly
|
- | 3.0 |
|
B | |
| 29920 | chr7 | 81729669 | A | G |
c.976T>C
|
p.Cys326Arg
|
- | 3.0 |
|
B | |
| 14461 | chr7 | 81742942 | T | G |
c.865+411A>C
|
-
|
- | 3.0 |
|
B | |
| 31625 | chr7 | 81743354 | G | A |
c.864C>T
|
p.Cys288=
|
3.0 |
|
B | ||
| 2681 | chr7 | 81743400 | G | T |
c.818C>A
|
p.Thr273Asn
|
- | 3.0 |
|
B | |
| 31904 | chr7 | 81743430 | G | T |
c.788C>A
|
p.Pro263His
|
- | 3.0 |
|
B | |
| 9556 | chr7 | 81743434 | T | C |
c.784A>G
|
p.Asn262Asp
|
- | 3.0 |
|
B | |
| 15713 | chr7 | 81743448 | T | C |
c.770A>G
|
p.Asp257Gly
|
3.0 |
|
B | ||
| 32901 | chr7 | 81743485 | C | T |
c.747-14G>A
|
-
|
- | 3.0 |
|
B | |
| 22883 | chr7 | 81745041 | C | T |
c.705G>A
|
p.Trp235Ter
|
- | 3.0 |
|
B | |
| 14777 | chr7 | 81745106 | A | G |
c.640T>C
|
p.Cys214Arg
|
- | 3.0 |
|
B | |
| 7536 | chr7 | 81745112 | T | C |
c.634A>G
|
p.Met212Val
|
- | 3.0 |
|
B | |
| 8051 | chr7 | 81745121 | C | G |
c.626-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 5699 | chr7 | 81752173 | G | T |
c.572C>A
|
p.Thr191Lys
|
- | 3.0 |
|
B | |
| 20601 | chr7 | 81752181 | C | G |
c.564G>C
|
p.Trp188Cys
|
- | 3.0 |
|
B | |
| 16046 | chr7 | 81752225 | C | T |
c.520G>A
|
p.Glu174Lys
|
- | 3.0 |
|
B | |
| 28828 | chr7 | 81756043 | A | G |
c.482+1146T>C
|
-
|
3.0 |
|
B | ||
| 2913 | chr7 | 81757255 | G | C |
c.416C>G
|
p.Thr139Arg
|
3.0 |
|
B | ||
| 10090 | chr7 | 81758802 | G | T |
c.257C>A
|
p.Ala86Asp
|
- | 3.0 |
|
B |