Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27789 | chr1 | 206769828 | C | T |
c.444+1G>A
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 14176 | chr1 | 206769890 | C | T |
c.383G>A
-
|
p.Arg128Gln
-
|
3.0 |
|
B | ||
| 12098 | chr1 | 206770984 | G | T |
c.301C>A
c.-243G>T
|
p.Gln101Lys
-
|
3.0 |
|
B | ||
| 2280 | chr1 | 206771057 | A | T |
c.228T>A
c.-170A>T
|
p.Gly76=
-
|
- | 3.0 |
|
B | |
| 10699 | chr1 | 206771077 | AGGTGAGTGAGAGATT | A |
c.226-33_226-19del
c.-149+2_-149+16del
|
-
p.?
|
- | 3.0 |
|
B | |
| 23421 | chr1 | 206771397 | C | A |
c.184G>T
c.-149+319C>A
|
p.Asp62Tyr
-
|
3.0 |
|
B | ||
| 3610 | chr1 | 207347528 | G | A |
c.1081+8111G>A
|
-
|
- | 3.0 |
|
B | |
| 4477 | chr1 | 208045088 | G | A |
c.3618C>T
|
p.Leu1206=
|
- | 3.0 |
|
B | |
| 34500 | chr1 | 216246846 | C | A |
c.2548G>T
|
p.Asp850Tyr
|
- | 3.0 |
|
B | |
| 17114 | chr1 | 220172631 | G | T |
c.2416+6C>A
|
-
|
3.0 |
|
B | ||
| 5149 | chr1 | 223229266 | C | T |
c.847G>A
|
p.Asp283Asn
|
3.0 |
|
B | ||
| 32211 | chr1 | 226064341 | G | GTCTCTGTACCATGGCTCGTACAAAGCAGACTGCCCGCAAATCGACCGGTGGTAAAGCACCCAGGAAGCA |
c.-10_59dup
|
p.Lys19_Gln20insHisLeuCysThrMetAlaArgThrLysGlnThrAlaArgLysSerThrGlyGlyLysAlaProArgLys
|
- | 3.0 |
|
B | |
| 2904 | chr1 | 226064368 | A | T |
c.17A>T
|
p.Gln6Leu
|
- | 3.0 |
|
B | |
| 16226 | chr1 | 226064423 | AG | A |
c.73del
|
p.Ala25ProfsTer12
|
- | 3.0 |
|
B | |
| 114 | chr1 | 226064434 | A | T |
c.83A>T
|
p.Lys28Met
|
4.0 |
|
A | ||
| 631 | chr1 | 226064454 | G | A |
c.103G>A
|
p.Gly35Arg
|
3.5 |
|
B | ||
| 32134 | chr1 | 226064454 | G | T |
c.103G>T
|
p.Gly35Trp
|
- | 3.0 |
|
B | |
| 34813 | chr1 | 226064484 | TAAA | T |
c.128+9_128+11del
|
-
|
- | 3.0 |
|
B | |
| 4333 | chr1 | 226065760 | ACTTTAAAACAGATCTGCGCTTCCAGAGCGCAGCTATCGGTG | A |
c.238_278del
|
p.Lys80AlafsTer5
|
- | 3.0 |
|
B | |
| 28100 | chr1 | 226071410 | T | C |
c.342T>C
|
p.His114=
|
3.0 |
|
B |