Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16637 | chr6 | 18263897 | C | T |
c.91G>A
|
p.Glu31Lys
|
3.0 |
|
B | ||
| 31440 | chr6 | 18264007 | G | A |
c.-9-11C>T
|
-
|
3.0 |
|
B | ||
| 33945 | chr6 | 20402434 | ACCTCCTGTTCCT | A |
c.208_219del
|
p.Cys70_Ser73del
|
- | 3.0 |
|
B | |
| 10827 | chr6 | 20479829 | G | A |
c.394-17G>A
|
-
|
3.0 |
|
B | ||
| 34190 | chr6 | 20481242 | C | T |
c.542C>T
|
p.Thr181Met
|
3.0 |
|
B | ||
| 28063 | chr6 | 20481347 | GA | G |
c.649del
|
p.Arg217GlyfsTer47
|
- | 3.0 |
|
B | |
| 2509 | chr6 | 20481393 | TAAG | T |
c.700_702del
|
p.Lys234del
|
- | 3.0 |
|
B | |
| 30955 | chr6 | 20481424 | A | C |
c.724A>C
|
p.Met242Leu
|
- | 3.0 |
|
B | |
| 30956 | chr6 | 20481428 | G | GCTGTTTTTAATAGACAAACCCTAGAAACAACCTAAATGTTGAGGATGTACTCCAAGA |
c.725+3_725+4insCTGTTTTTAATAGACAAACCCTAGAAACAACCTAAATGTTGAGGATGTACTCCAAGA
|
-
|
- | 3.0 |
|
B | |
| 32437 | chr6 | 20482883 | G | C |
c.847G>C
|
p.Asp283His
|
- | 3.0 |
|
B | |
| 32438 | chr6 | 20482886 | CTCAAA | C |
c.851_855del
|
p.Leu284ProfsTer23
|
- | 3.0 |
|
B | |
| 11039 | chr6 | 20482905 | A | T |
c.869A>T
|
p.Asp290Val
|
3.0 |
|
B | ||
| 33740 | chr6 | 20486816 | C | T |
c.999+13C>T
|
-
|
3.0 |
|
B | ||
| 16970 | chr6 | 20488162 | T | A |
c.1049T>A
|
p.Leu350Ter
|
- | 3.0 |
|
B | |
| 881 | chr6 | 20488237 | C | A |
c.1124C>A
|
p.Pro375His
|
- | 3.0 |
|
B | |
| 9998 | chr6 | 20488247 | A | T |
c.1134A>T
|
p.Lys378Asn
|
3.5 |
|
B | ||
| 1389 | chr6 | 20490264 | A | C |
c.1232A>C
|
p.Glu411Ala
|
- | 3.0 |
|
B | |
| 4493 | chr6 | 22570144 | C | T |
c.569C>T
|
p.Ala190Val
|
- | 3.0 |
|
B | |
| 4358 | chr6 | 25727087 | C | T |
-
c.179C>T
|
-
p.Ala60Val
|
3.0 |
|
B | ||
| 3637 | chr6 | 25915500 | TG | T |
c.1209del
|
p.Arg404AspfsTer83
|
- | 3.0 |
|
B |