Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14473 | chr3 | 47116647 | A | C |
c.4562T>G
|
p.Leu1521Arg
|
- | 3.0 |
|
B | |
| 2855 | chr3 | 47120416 | C | CT |
c.4219dup
|
p.Arg1407LysfsTer8
|
- | 4.5 |
|
B | |
| 28950 | chr3 | 47120416 | CT | C |
c.4219del
|
p.Arg1407GlyfsTer5
|
- | 4.0 |
|
B | |
| 10055 | chr3 | 47120760 | C | G |
c.3876G>C
|
p.Gln1292His
|
- | 3.0 |
|
B | |
| 32997 | chr3 | 47120824 | T | TA |
c.3811dup
|
p.Tyr1271LeufsTer5
|
- | 4.0 |
|
B | |
| 32935 | chr3 | 47120853 | G | T |
c.3783C>A
|
p.Asp1261Glu
|
- | 3.0 |
|
B | |
| 22480 | chr3 | 47121041 | G | A |
c.3595C>T
|
p.Gln1199Ter
|
- | 4.0 |
|
B | |
| 10402 | chr3 | 47121169 | C | T |
c.3467G>A
|
p.Arg1156His
|
3.0 |
|
B | ||
| 25263 | chr3 | 47121172 | TTATC | T |
c.3460_3463del
|
p.Asp1154IlefsTer22
|
- | 4.0 |
|
B | |
| 24809 | chr3 | 47121208 | A | AT |
c.3427dup
|
p.Ile1143AsnfsTer8
|
- | 4.0 |
|
B | |
| 14635 | chr3 | 47121310 | C | T |
c.3326G>A
|
p.Arg1109Lys
|
- | 3.0 |
|
B | |
| 20484 | chr3 | 47121396 | C | T |
c.3240G>A
|
p.Met1080Ile
|
2.0 |
|
B | ||
| 5388 | chr3 | 47121494 | C | A |
c.3142G>T
|
p.Glu1048Ter
|
- | 4.0 |
|
B | |
| 3110 | chr3 | 47121678 | TTCTCC | T |
c.2953_2957del
|
p.Gly985ArgfsTer8
|
- | 4.0 |
|
B | |
| 13822 | chr3 | 47121715 | CT | C |
c.2920del
|
p.Arg974GlufsTer8
|
- | 4.0 |
|
B | |
| 4898 | chr3 | 47121822 | A | T |
c.2814T>A
|
p.Asp938Glu
|
- | 3.0 |
|
B | |
| 6163 | chr3 | 47121953 | G | GA |
c.2682dup
|
p.Leu895SerfsTer21
|
- | 4.0 |
|
B | |
| 22485 | chr3 | 47122001 | TACCTG | T |
c.2630_2634del
|
p.Ser877TyrfsTer37
|
- | 4.0 |
|
B | |
| 16943 | chr3 | 47122052 | C | A |
c.2584G>T
|
p.Ala862Ser
|
- | 3.0 |
|
B | |
| 2263 | chr3 | 47122064 | T | C |
c.2572A>G
|
p.Ser858Gly
|
- | 3.5 |
|
B |