Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
5850 chr17 7674947 A C
c.584T>G
p.Ile195Ser
3.5
B
2243 chr17 7674947 A G
c.584T>C
p.Ile195Thr
4.0
B
7867 chr17 7674947 A T
c.584T>A
p.Ile195Asn
3.0
B
6838 chr17 7674950 A C
c.581T>G
p.Leu194Arg
4.0
B
23757 chr17 7674951 G A
c.580C>T
p.Leu194Phe
5.0
B
25242 chr17 7674953 T A
c.578A>T
p.His193Leu
4.0
B
907 chr17 7674953 T C
c.578A>G
p.His193Arg
4.0
B
11995 chr17 7674953 T G
c.578A>C
p.His193Pro
4.0
B
2899 chr17 7674956 TGAG T
c.572_574del
p.Pro191del
4.0
B
2847 chr17 7674957 G A
c.574C>T
p.Gln192Ter
5.0
B
6639 chr17 7674961 AG A
c.569del
p.Pro190LeufsTer57
4.5
B
1404 chr17 7674962 G A
c.569C>T
p.Pro190Leu
4.0
B
9085 chr17 7674962 G C
c.569C>G
p.Pro190Arg
3.5
B
26557 chr17 7674967 CAGACCT C
c.560-2_563del
p.?
- 4.0
B
8476 chr17 7674968 AG A
c.562del
p.Leu188TrpfsTer59
- 4.0
B
22581 chr17 7674972 C A
c.560-1G>T
p.?
- 4.5
B
1342 chr17 7674972 C G
c.560-1G>C
p.?
5.0
B
14421 chr17 7674972 C T
c.560-1G>A
p.?
4.5
B
3261 chr17 7674976 G C
c.560-5C>G
-
- 3.0
B
19354 chr17 7674979 CAATCAGTGAGG C
c.560-19_560-9del
-
4.0
B