Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
33516 chr7 55181317 G GGTT
c.2308_2309insGTT
p.Asp770delinsGlyTyr
3.5
B
17967 chr7 55181318 A G
c.2309A>G
p.Asp770Gly
- 3.0
B
7853 chr7 55181320 A AACCCCC
c.2314_2319dup
p.Pro772_His773dup
- 3.5
B
2812 chr7 55181325 C CCACGTG
c.2317_2322dup
p.His773_Val774dup
4.5
B
950 chr7 55181329 G A
c.2320G>A
p.Val774Met
3.5
B
30374 chr7 55181335 C T
c.2326C>T
p.Arg776Cys
3.0
B
6447 chr7 55181341 C A
c.2332C>A
p.Leu778Met
- 3.0
B
10901 chr7 55181351 G C
c.2342G>C
p.Cys781Ser
- 3.0
B
319 chr7 55181378 C T
c.2369C>T
p.Thr790Met
4.33
A
6183 chr7 55181432 A C
c.2423A>C
p.Asn808Thr
- 3.0
B
25818 chr7 55181445 G T
c.2436G>T
p.Gln812His
- 3.0
B
17519 chr7 55191755 C T
c.2506C>T
p.Arg836Cys
3.0
B
19062 chr7 55191794 C T
c.2545C>T
p.Gln849Ter
3.0
B
18877 chr7 55191822 T G
c.2573T>G
p.Leu858Arg
4.5
B
32840 chr7 55191831 T A
c.2582T>A
p.Leu861Gln
4.5
B
20997 chr7 55191880 G A
c.2625+6G>A
-
3.0
B
14092 chr7 55192822 G C
c.2682G>C
p.Gln894His
3.0
B
1301 chr7 55192845 A T
c.2701+4A>T
-
- 3.0
B
32955 chr7 55198714 C G
c.2702-3C>G
-
3.0
B
31969 chr7 55198778 C G
c.2763C>G
p.Ser921Arg
- 3.0
B