Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1441 | chr1 | 114713905 | T | TCC |
-
c.184_185insGG
|
-
p.Glu62GlyfsTer7
|
- | 3.0 |
|
B | |
| 98 | chr1 | 114713907 | T | A |
-
c.183A>T
|
-
p.Gln61His
|
5.0 |
|
B | ||
| 99 | chr1 | 114713907 | T | G |
-
c.183A>C
|
-
p.Gln61His
|
4.67 |
|
A | ||
| 101 | chr1 | 114713908 | T | A |
-
c.182A>T
|
-
p.Gln61Leu
|
4.78 |
|
S | ||
| 100 | chr1 | 114713908 | T | C |
-
c.182A>G
|
-
p.Gln61Arg
|
4.67 |
|
A | ||
| 102 | chr1 | 114713909 | G | T |
-
c.181C>A
|
-
p.Gln61Lys
|
4.67 |
|
A | ||
| 8542 | chr1 | 114713927 | T | A |
-
c.163A>T
|
-
p.Ile55Leu
|
- | 3.0 |
|
B | |
| 7869 | chr1 | 114713945 | C | T |
-
c.145G>A
|
-
p.Glu49Lys
|
3.0 |
|
B | ||
| 3103 | chr1 | 114716090 | A | T |
-
c.71T>A
|
-
p.Ile24Asn
|
4.0 |
|
B | ||
| 589 | chr1 | 114716111 | C | G |
-
c.50G>C
|
-
p.Ser17Thr
|
- | 3.0 |
|
B | |
| 103 | chr1 | 114716123 | C | A |
-
c.38G>T
|
-
p.Gly13Val
|
5.0 |
|
B | ||
| 104 | chr1 | 114716123 | C | T |
-
c.38G>A
|
-
p.Gly13Asp
|
4.67 |
|
A | ||
| 106 | chr1 | 114716124 | C | A |
-
c.37G>T
|
-
p.Gly13Cys
|
5.0 |
|
B | ||
| 105 | chr1 | 114716124 | C | G |
-
c.37G>C
|
-
p.Gly13Arg
|
5.0 |
|
B | ||
| 108 | chr1 | 114716126 | C | A |
-
c.35G>T
|
-
p.Gly12Val
|
4.67 |
|
A | ||
| 3104 | chr1 | 114716126 | C | G |
-
c.35G>C
|
-
p.Gly12Ala
|
4.0 |
|
B | ||
| 107 | chr1 | 114716126 | C | T |
-
c.35G>A
|
-
p.Gly12Asp
|
4.67 |
|
A | ||
| 22182 | chr1 | 114716127 | C | A |
-
c.34G>T
|
-
p.Gly12Cys
|
4.0 |
|
B | ||
| 109 | chr1 | 114716127 | C | G |
-
c.34G>C
|
-
p.Gly12Arg
|
4.67 |
|
A | ||
| 110 | chr1 | 114716127 | C | T |
-
c.34G>A
|
-
p.Gly12Ser
|
5.0 |
|
B |