Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3393 | chr5 | 141137608 | C | T |
c.2174C>T
|
p.Ser725Leu
|
3.0 |
|
B | ||
| 3415 | chr5 | 141184670 | C | T |
-
-
c.2111C>T
|
-
-
p.Ser704Leu
|
3.0 |
|
B | ||
| 4490 | chr5 | 141214784 | C | T |
c.661C>T
-
|
p.Pro221Ser
-
|
- | 3.0 |
|
B | |
| 20217 | chr5 | 141415641 | TA | T |
c.2514+58031del
c.2436+41del
c.2424+69195del
c.2424+74257del
c.2424+20415del
c.2424+39145del
c.2424+30329del
c.2424+10276del
c.2422-79155del
c.2421+48901del
c.2421+53096del
c.2418+5032del
-
c.2415+42843del
c.2409+62983del
c.2397+25371del
c.2397+15128del
|
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
|
2.5 |
|
B | ||
| 20218 | chr5 | 141415641 | TAA | T |
c.2514+58030_2514+58031del
c.2436+40_2436+41del
c.2424+69194_2424+69195del
c.2424+74256_2424+74257del
c.2424+20414_2424+20415del
c.2424+39144_2424+39145del
c.2424+30328_2424+30329del
c.2424+10275_2424+10276del
c.2422-79156_2422-79155del
c.2421+48900_2421+48901del
c.2421+53095_2421+53096del
c.2418+5031_2418+5032del
-
c.2415+42842_2415+42843del
c.2409+62982_2409+62983del
c.2397+25370_2397+25371del
c.2397+15127_2397+15128del
|
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
|
3.0 |
|
B | ||
| 4357 | chr5 | 141654069 | G | T |
c.4516C>A
-
|
p.Pro1506Thr
-
|
3.0 |
|
B | ||
| 3394 | chr5 | 141928278 | C | T |
c.392C>T
|
p.Pro131Leu
|
- | 3.0 |
|
B | |
| 15397 | chr5 | 142770783 | T | A |
c.22T>A
|
p.Phe8Ile
|
- | 3.0 |
|
B | |
| 7900 | chr5 | 142873418 | G | A |
c.173G>A
|
p.Arg58Gln
|
3.0 |
|
B | ||
| 25603 | chr5 | 142875094 | C | T |
c.251-16C>T
|
-
|
- | 3.0 |
|
B | |
| 11614 | chr5 | 142901995 | G | C |
c.658G>C
|
p.Asp220His
|
- | 3.0 |
|
B | |
| 25944 | chr5 | 142907687 | G | A |
c.833-17G>A
|
-
|
- | 3.0 |
|
B | |
| 35012 | chr5 | 142907713 | G | T |
c.842G>T
|
p.Gly281Val
|
- | 3.0 |
|
B | |
| 18571 | chr5 | 142913191 | C | T |
c.934-8C>T
|
-
|
3.0 |
|
B | ||
| 9895 | chr5 | 142913212 | C | A |
c.947C>A
|
p.Ser316Ter
|
- | 4.0 |
|
B | |
| 32266 | chr5 | 142919341 | G | T |
c.1028+6048G>T
|
-
|
- | 3.5 |
|
B | |
| 18641 | chr5 | 142932141 | GGGAAGTAGAGCAAGAATGAA | G |
c.1107+19_1107+38del
|
-
|
- | 3.5 |
|
B | |
| 17574 | chr5 | 143121070 | G | A |
c.1621G>A
|
p.Glu541Lys
|
- | 3.0 |
|
B | |
| 26550 | chr5 | 143134022 | G | A |
c.1754G>A
|
p.Arg585Gln
|
3.0 |
|
B | ||
| 8432 | chr5 | 143134100 | A | G |
c.1832A>G
|
p.Glu611Gly
|
- | 3.0 |
|
B |