Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14101 | chr1 | 193142037 | C | G |
c.700C>G
|
p.Arg234Gly
|
- | 3.0 |
|
B | |
| 27047 | chr1 | 193142062 | G | A |
c.725G>A
|
p.Gly242Glu
|
3.0 |
|
B | ||
| 21500 | chr1 | 193147928 | C | T |
c.791C>T
|
p.Ala264Val
|
3.0 |
|
B | ||
| 4896 | chr1 | 193150310 | A | T |
c.835A>T
|
p.Thr279Ser
|
- | 2.5 |
|
B | |
| 19370 | chr1 | 193152366 | CT | C |
c.908-6del
|
-
|
2.0 |
|
B | ||
| 16284 | chr1 | 193152403 | A | T |
c.931A>T
|
p.Thr311Ser
|
- | 3.0 |
|
B | |
| 13135 | chr1 | 193152448 | A | C |
c.972+4A>C
|
-
|
- | 3.0 |
|
B | |
| 17564 | chr1 | 193203819 | C | T |
c.997C>T
|
p.Gln333Ter
|
- | 4.0 |
|
B | |
| 14909 | chr1 | 193232998 | T | C |
c.1160T>C
|
p.Val387Ala
|
3.0 |
|
B | ||
| 1645 | chr1 | 193233034 | G | A |
c.1196G>A
|
p.Arg399Gln
|
3.0 |
|
B | ||
| 27689 | chr1 | 193233132 | C | G |
c.1294C>G
|
p.Leu432Val
|
- | 3.0 |
|
B | |
| 896 | chr1 | 193233152 | C | T |
c.1314C>T
|
p.Asp438=
|
- | 2.5 |
|
B | |
| 29542 | chr1 | 193249728 | A | T |
c.1418-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 33685 | chr1 | 193249736 | C | A |
c.1424C>A
|
p.Ala475Asp
|
- | 3.0 |
|
B | |
| 8340 | chr1 | 193249823 | G | A |
c.1511G>A
|
p.Arg504His
|
2.5 |
|
B | ||
| 17999 | chr1 | 196467698 | C | T |
c.543+5G>A
|
-
|
- | 3.0 |
|
B | |
| 3355 | chr1 | 196918300 | A | G |
c.1631A>G
|
p.Asp544Gly
|
- | 3.0 |
|
B | |
| 4043 | chr1 | 197429572 | C | T |
c.2800C>T
|
p.Pro934Ser
|
- | 3.0 |
|
B | |
| 4044 | chr1 | 197429573 | C | T |
c.2801C>T
|
p.Pro934Leu
|
- | 3.0 |
|
B | |
| 4045 | chr1 | 197435035 | G | A |
c.3172G>A
|
p.Glu1058Lys
|
3.0 |
|
B |