Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28897 | chr3 | 179199012 | C | T |
c.187C>T
|
p.Gln63Ter
|
- | 3.0 |
|
B | |
| 11697 | chr3 | 179199048 | C | G |
c.223C>G
|
p.Gln75Glu
|
- | 3.0 |
|
B | |
| 465 | chr3 | 179199066 | G | A |
c.241G>A
|
p.Glu81Lys
|
4.33 |
|
A | ||
| 3589 | chr3 | 179199067 | A | T |
c.242A>T
|
p.Glu81Val
|
- | 3.0 |
|
B | |
| 27288 | chr3 | 179199072 | T | A |
c.247T>A
|
p.Phe83Ile
|
- | 3.0 |
|
B | |
| 23710 | chr3 | 179199072 | TTT | AAA |
c.247_249delinsAAA
|
p.Phe83Lys
|
- | 3.0 |
|
B | |
| 8126 | chr3 | 179199073 | T | C |
c.248T>C
|
p.Phe83Ser
|
3.0 |
|
B | ||
| 1534 | chr3 | 179199088 | G | A |
c.263G>A
|
p.Arg88Gln
|
4.5 |
|
B | ||
| 15034 | chr3 | 179199093 | T | G |
c.268T>G
|
p.Cys90Gly
|
- | 3.0 |
|
B | |
| 10518 | chr3 | 179199102 | C | T |
c.277C>T
|
p.Arg93Trp
|
- | 4.0 |
|
B | |
| 449 | chr3 | 179199103 | G | A |
c.278G>A
|
p.Arg93Gln
|
4.12 |
|
S | ||
| 2775 | chr3 | 179199142 | G | T |
c.317G>T
|
p.Gly106Val
|
4.0 |
|
B | ||
| 3788 | chr3 | 179199148 | G | A |
c.323G>A
|
p.Arg108His
|
3.0 |
|
B | ||
| 10026 | chr3 | 179199149 | TGAA | T |
c.328_330del
|
p.Glu110del
|
4.5 |
|
B | ||
| 482 | chr3 | 179199156 | A | G |
c.331A>G
|
p.Lys111Glu
|
4.0 |
|
B | ||
| 12006 | chr3 | 179199159 | ATCC | A |
c.337_339del
|
p.Leu113del
|
- | 3.5 |
|
B | |
| 181 | chr3 | 179199690 | G | A |
c.353G>A
|
p.Gly118Asp
|
4.33 |
|
A | ||
| 6904 | chr3 | 179199722 | G | C |
c.385G>C
|
p.Asp129His
|
- | 3.0 |
|
B | |
| 18891 | chr3 | 179199917 | C | A |
c.562+18C>A
|
-
|
- | 3.0 |
|
B | |
| 10636 | chr3 | 179201326 | C | T |
c.599C>T
|
p.Pro200Leu
|
- | 3.0 |
|
B |