Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26694 | chr2 | 32464774 | C | T |
c.5207C>T
|
p.Pro1736Leu
|
2.5 |
|
B | ||
| 30268 | chr2 | 32464819 | G | A |
c.5252G>A
|
p.Arg1751Lys
|
- | 3.0 |
|
B | |
| 21286 | chr2 | 32467934 | A | G |
c.5603A>G
|
p.Asn1868Ser
|
- | 3.0 |
|
B | |
| 28229 | chr2 | 32468514 | C | CACAGTACTTTTTACGAA |
c.5860_5876dup
|
p.Lys1959AsnfsTer32
|
- | 3.0 |
|
B | |
| 15254 | chr2 | 32473127 | T | A |
c.6608T>A
|
p.Phe2203Tyr
|
- | 3.0 |
|
B | |
| 26787 | chr2 | 32479450 | C | T |
c.7253-12C>T
|
-
|
- | 3.0 |
|
B | |
| 34876 | chr2 | 32490079 | C | T |
c.8134C>T
|
p.Pro2712Ser
|
- | 3.0 |
|
B | |
| 27680 | chr2 | 32499907 | A | T |
c.8829A>T
|
p.Arg2943Ser
|
- | 3.0 |
|
B | |
| 14148 | chr2 | 32501693 | G | T |
c.9032-20G>T
|
-
|
- | 3.0 |
|
B | |
| 30911 | chr2 | 32501706 | T | G |
c.9032-7T>G
|
-
|
- | 3.0 |
|
B | |
| 16041 | chr2 | 32501749 | T | A |
c.9068T>A
|
p.Phe3023Tyr
|
- | 3.0 |
|
B | |
| 31058 | chr2 | 32501797 | T | A |
c.9116T>A
|
p.Ile3039Lys
|
- | 3.0 |
|
B | |
| 33966 | chr2 | 32501823 | T | G |
c.9142T>G
|
p.Ser3048Ala
|
- | 3.0 |
|
B | |
| 20588 | chr2 | 32501872 | G | T |
c.9191G>T
|
p.Gly3064Val
|
- | 3.0 |
|
B | |
| 17207 | chr2 | 32502837 | T | C |
c.9250T>C
|
p.Phe3084Leu
|
- | 3.0 |
|
B | |
| 33235 | chr2 | 32503045 | G | C |
c.9308G>C
|
p.Gly3103Ala
|
- | 3.0 |
|
B | |
| 16355 | chr2 | 32503202 | C | A |
c.9465C>A
|
p.Asp3155Glu
|
- | 3.0 |
|
B | |
| 34557 | chr2 | 32505070 | C | CTGG |
c.9565_9566insTGG
|
p.His3189delinsLeuAsp
|
- | 3.0 |
|
B | |
| 31059 | chr2 | 32508038 | G | C |
c.9759G>C
|
p.Leu3253Phe
|
- | 3.0 |
|
B | |
| 21839 | chr2 | 32510610 | C | T |
c.10322C>T
|
p.Thr3441Ile
|
- | 3.0 |
|
B |