Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23781 | chr3 | 38609854 | A | G |
c.814T>C
|
p.Phe272Leu
|
- | 3.0 |
|
B | |
| 25124 | chr3 | 38609887 | G | A |
c.781C>T
|
p.Leu261Phe
|
- | 3.0 |
|
B | |
| 18079 | chr3 | 38613761 | T | C |
c.685A>G
|
p.Thr229Ala
|
- | 3.0 |
|
B | |
| 27413 | chr3 | 38613796 | G | C |
c.650C>G
|
p.Ala217Gly
|
- | 3.0 |
|
B | |
| 25987 | chr3 | 38613962 | C | A |
c.612-128G>T
|
-
|
- | 3.0 |
|
B | |
| 13567 | chr3 | 38620831 | T | G |
c.611+12A>C
|
-
|
- | 3.0 |
|
B | |
| 32715 | chr3 | 38620842 | C | T |
c.611+1G>A
|
p.?
|
3.5 |
|
B | ||
| 23928 | chr3 | 38620901 | C | T |
c.553G>A
|
p.Ala185Thr
|
2.0 |
|
B | ||
| 15393 | chr3 | 38622419 | G | T |
c.463C>A
|
p.Pro155Thr
|
- | 3.0 |
|
B | |
| 14634 | chr3 | 38633048 | TA | T |
c.259del
|
p.Tyr87IlefsTer10
|
- | 3.0 |
|
B | |
| 35494 | chr3 | 38633208 | G | A |
c.100C>T
|
p.Arg34Cys
|
1.0 |
|
B | ||
| 4059 | chr3 | 38896926 | C | T |
c.2322G>A
|
p.Trp774Ter
|
3.0 |
|
B | ||
| 7944 | chr3 | 41224601 | ACCTG | A |
c.90_93del
|
p.Tyr30Ter
|
- | 3.5 |
|
B | |
| 32433 | chr3 | 41224606 | G | A |
c.94G>A
|
p.Asp32Asn
|
5.0 |
|
B | ||
| 32200 | chr3 | 41224606 | G | C |
c.94G>C
|
p.Asp32His
|
4.0 |
|
B | ||
| 495 | chr3 | 41224607 | A | G |
c.95A>G
|
p.Asp32Gly
|
4.0 |
|
B | ||
| 156 | chr3 | 41224609 | T | C |
c.97T>C
|
p.Ser33Pro
|
5.0 |
|
B | ||
| 26485 | chr3 | 41224609 | T | G |
c.97T>G
|
p.Ser33Ala
|
3.5 |
|
B | ||
| 157 | chr3 | 41224610 | C | G |
c.98C>G
|
p.Ser33Cys
|
4.67 |
|
A | ||
| 2281 | chr3 | 41224610 | C | T |
c.98C>T
|
p.Ser33Phe
|
4.5 |
|
B |