Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5689 | chr4 | 186708135 | T | G |
c.1693A>C
|
p.Asn565His
|
- | 3.0 |
|
B | |
| 7127 | chr4 | 186708142 | C | G |
c.1686G>C
|
p.Leu562Phe
|
- | 3.0 |
|
B | |
| 7059 | chr4 | 186708237 | G | A |
c.1591C>T
|
p.Pro531Ser
|
- | 3.0 |
|
B | |
| 23609 | chr4 | 186708408 | CAT | C |
c.1418_1419del
|
p.Asp473GlyfsTer18
|
- | 4.0 |
|
B | |
| 23610 | chr4 | 186708411 | C | T |
c.1417G>A
|
p.Asp473Asn
|
- | 3.0 |
|
B | |
| 35008 | chr4 | 186708558 | C | A |
c.1270G>T
|
p.Glu424Ter
|
- | 4.0 |
|
B | |
| 19305 | chr4 | 186708947 | A | T |
c.881T>A
|
p.Ile294Asn
|
- | 3.0 |
|
B | |
| 11868 | chr4 | 186708981 | G | A |
c.847C>T
|
p.Gln283Ter
|
- | 4.0 |
|
B | |
| 8136 | chr4 | 186709020 | C | T |
c.808G>A
|
p.Asp270Asn
|
- | 3.0 |
|
B | |
| 33421 | chr4 | 186709097 | G | A |
c.731C>T
|
p.Thr244Met
|
3.0 |
|
B | ||
| 5362 | chr4 | 186709434 | G | A |
c.394C>T
|
p.Arg132Ter
|
4.5 |
|
B | ||
| 214 | chr4 | 186709458 | C | A |
c.370G>T
|
p.Glu124Ter
|
- | 4.0 |
|
A | |
| 2857 | chr4 | 186709556 | C | T |
c.272G>A
|
p.Gly91Glu
|
- | 3.0 |
|
B | |
| 11766 | chr4 | 186709656 | T | C |
c.172A>G
|
p.Lys58Glu
|
- | 3.0 |
|
B | |
| 31658 | chr4 | 186709708 | G | GTTGTAC |
c.114_119dup
|
p.Tyr39_Asn40insLysTyr
|
- | 3.0 |
|
B | |
| 18001 | chr5 | 181535 | C | T |
c.4424C>T
|
p.Ala1475Val
|
- | 3.0 |
|
B | |
| 30411 | chr5 | 217373 | G | A |
-
c.-10-514C>T
|
-
-
|
1.5 |
|
B | ||
| 559 | chr5 | 218359 | T | C |
c.4T>C
-
|
p.Ser2Pro
-
|
3.0 |
|
B | ||
| 31566 | chr5 | 223479 | C | T |
c.64-3C>T
|
-
|
2.5 |
|
B | ||
| 11920 | chr5 | 224541 | C | T |
c.312+20C>T
|
-
|
2.5 |
|
B |