Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26513 | chr7 | 77600670 | C | A |
c.559C>A
|
p.Arg187Ser
|
- | 3.0 |
|
B | |
| 11619 | chr7 | 77600722 | C | T |
c.611C>T
|
p.Ser204Leu
|
- | 3.0 |
|
B | |
| 31769 | chr7 | 77626812 | C | CTA |
c.1134_1135dup
|
p.Thr379IlefsTer49
|
- | 3.0 |
|
B | |
| 31770 | chr7 | 77626815 | C | G |
c.1136C>G
|
p.Thr379Ser
|
- | 3.0 |
|
B | |
| 31771 | chr7 | 77626821 | G | T |
c.1142G>T
|
p.Trp381Leu
|
- | 3.0 |
|
B | |
| 13897 | chr7 | 77626881 | A | C |
c.1202A>C
|
p.His401Pro
|
3.0 |
|
B | ||
| 31772 | chr7 | 77626963 | AAAATTGGAACG | A |
c.1290_1300del
|
p.Leu430PhefsTer4
|
- | 3.0 |
|
B | |
| 35506 | chr7 | 77626983 | G | C |
c.1304G>C
|
p.Ser435Thr
|
3.0 |
|
B | ||
| 24784 | chr7 | 77627009 | C | G |
c.1330C>G
|
p.Gln444Glu
|
- | 3.0 |
|
B | |
| 16553 | chr7 | 77627010 | A | G |
c.1331A>G
|
p.Gln444Arg
|
3.0 |
|
B | ||
| 33983 | chr7 | 77627068 | A | T |
c.1389A>T
|
p.Lys463Asn
|
- | 3.0 |
|
B | |
| 15628 | chr7 | 77627407 | T | TG |
c.1729dup
|
p.Glu577GlyfsTer4
|
- | 3.0 |
|
B | |
| 27320 | chr7 | 77627478 | C | T |
c.1799C>T
|
p.Pro600Leu
|
- | 3.0 |
|
B | |
| 30312 | chr7 | 77627613 | TATTGCCAATGTCC | T |
c.1940_1952del
|
p.Pro647LeufsTer5
|
- | 3.0 |
|
B | |
| 24559 | chr7 | 77627625 | C | T |
c.1946C>T
|
p.Ser649Phe
|
- | 3.0 |
|
B | |
| 34021 | chr7 | 77637006 | T | G |
c.2143-12T>G
|
-
|
- | 3.0 |
|
B | |
| 15811 | chr7 | 77794142 | CT | C |
-
c.231del
|
-
p.Ala78ProfsTer11
|
3.0 |
|
B | ||
| 4309 | chr7 | 78019318 | TCTGCTGG | T |
c.4358_4364del
|
p.Ala1453AspfsTer19
|
- | 3.5 |
|
B | |
| 4310 | chr7 | 78019331 | GAGGCGC | G |
c.4346_4351del
|
p.Gly1449_Ser1451delinsAla
|
- | 3.0 |
|
B | |
| 21713 | chr7 | 78019744 | C | A |
c.3939G>T
|
p.Gln1313His
|
- | 3.0 |
|
B |