Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27069 | chr1 | 198735257 | G | C |
c.2403+5G>C
|
-
|
- | 3.0 |
|
B | |
| 25778 | chr1 | 198741860 | C | G |
c.2404-9C>G
|
-
|
- | 3.0 |
|
B | |
| 17755 | chr1 | 198741875 | G | A |
c.2410G>A
|
p.Glu804Lys
|
- | 3.0 |
|
B | |
| 23026 | chr1 | 198741933 | G | T |
c.2468G>T
|
p.Gly823Val
|
- | 3.0 |
|
B | |
| 12111 | chr1 | 198741975 | G | A |
c.2510G>A
|
p.Arg837Lys
|
- | 3.0 |
|
B | |
| 10718 | chr1 | 198742031 | G | A |
c.2561+5G>A
|
-
|
3.0 |
|
B | ||
| 8394 | chr1 | 198742277 | G | T |
c.2607G>T
|
p.Met869Ile
|
- | 3.0 |
|
B | |
| 25706 | chr1 | 198742361 | A | C |
c.2691A>C
|
p.Gln897His
|
- | 3.0 |
|
B | |
| 22249 | chr1 | 198744044 | G | A |
c.2698-10G>A
|
-
|
- | 3.0 |
|
B | |
| 6439 | chr1 | 198749496 | G | T |
c.3019G>T
|
p.Asp1007Tyr
|
- | 3.0 |
|
B | |
| 6643 | chr1 | 198749509 | C | T |
c.3032C>T
|
p.Ser1011Leu
|
- | 3.0 |
|
B | |
| 20273 | chr1 | 198750474 | C | CT |
c.3073-11dup
|
-
|
2.0 |
|
B | ||
| 9733 | chr1 | 198750531 | C | A |
c.3112C>A
|
p.Pro1038Thr
|
- | 3.0 |
|
B | |
| 16183 | chr1 | 198750565 | T | A |
c.3146T>A
|
p.Met1049Lys
|
- | 3.0 |
|
B | |
| 16416 | chr1 | 198750588 | G | A |
c.3169G>A
|
p.Val1057Ile
|
- | 3.0 |
|
B | |
| 29773 | chr1 | 198750643 | ATTT | A |
c.3207+19_3207+21del
|
-
|
- | 3.0 |
|
B | |
| 3142 | chr1 | 198752291 | G | A |
c.3250G>A
|
p.Gly1084Arg
|
- | 3.0 |
|
B | |
| 24859 | chr1 | 198752311 | G | GA |
c.3273dup
|
p.Asp1092ArgfsTer14
|
- | 4.0 |
|
B | |
| 25210 | chr1 | 198752678 | T | G |
c.3415T>G
|
p.Ser1139Ala
|
- | 3.0 |
|
B | |
| 17127 | chr1 | 198752708 | C | T |
c.3445C>T
|
p.Pro1149Ser
|
3.0 |
|
B |