Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2839 | chr5 | 132575822 | C | T |
c.259C>T
|
p.Arg87Cys
|
3.0 |
|
B | ||
| 5091 | chr5 | 132579896 | C | T |
c.586C>T
|
p.Arg196Cys
|
3.0 |
|
B | ||
| 19267 | chr5 | 132579969 | C | T |
c.659C>T
|
p.Ala220Val
|
- | 3.0 |
|
B | |
| 15663 | chr5 | 132588041 | G | A |
c.1003G>A
|
p.Glu335Lys
|
3.0 |
|
B | ||
| 20316 | chr5 | 132588671 | A | AT |
c.1052-6dup
|
-
|
2.0 |
|
B | ||
| 15804 | chr5 | 132588671 | AT | A |
c.1052-6del
|
-
|
2.0 |
|
B | ||
| 7384 | chr5 | 132588690 | G | A |
c.1055G>A
|
p.Arg352His
|
3.0 |
|
B | ||
| 23562 | chr5 | 132589765 | GAAGTA | G |
c.1381_1385del
|
p.Lys461Ter
|
- | 4.0 |
|
B | |
| 18996 | chr5 | 132591858 | A | AT |
c.1636-9dup
|
-
|
1.5 |
|
B | ||
| 19589 | chr5 | 132591858 | AT | A |
c.1636-9del
|
-
|
2.0 |
|
B | ||
| 1388 | chr5 | 132591957 | C | CCAAAAA |
c.1716_1717insCAAAAA
|
p.Asn572_Lys573insGlnLys
|
- | 3.0 |
|
B | |
| 13670 | chr5 | 132594968 | T | G |
c.1893T>G
|
p.Asp631Glu
|
3.0 |
|
B | ||
| 25994 | chr5 | 132594972 | T | G |
c.1897T>G
|
p.Cys633Gly
|
3.0 |
|
B | ||
| 18997 | chr5 | 132595719 | C | T |
c.2116C>T
|
p.Arg706Ter
|
4.0 |
|
B | ||
| 15805 | chr5 | 132595759 | T | TA |
c.2165dup
|
p.Glu723GlyfsTer5
|
4.5 |
|
B | ||
| 6740 | chr5 | 132595759 | T | TAA |
c.2164_2165dup
|
p.Glu723ArgfsTer14
|
- | 4.0 |
|
B | |
| 8362 | chr5 | 132595759 | TA | T |
c.2165del
|
p.Lys722ArgfsTer14
|
4.5 |
|
B | ||
| 16721 | chr5 | 132603932 | G | A |
c.2410G>A
|
p.Asp804Asn
|
- | 3.0 |
|
B | |
| 21800 | chr5 | 132604036 | G | T |
c.2514G>T
|
p.Lys838Asn
|
- | 3.0 |
|
B | |
| 3920 | chr5 | 132604896 | C | T |
c.2615C>T
|
p.Ser872Phe
|
3.0 |
|
B |