Table 2.
Worst Annotation | |||||||
---|---|---|---|---|---|---|---|
RNF223 | 1:1007306 | Exon 2/2 | G | A | c.641 C>T | p.Pro214Leu | missense |
RNF223 | 1:1007730 | Exon 2/2 | C | T | c.217G>A | p.Val73Ile | missense |
ATPSCKMT (FAM173B) | 5:10239295 | Exon 2/5 | G | A | c.190C>T | p.Arg64Ter | nonsense |
TRAF3IP2 | 6:111912731 | Exon 2/9 | G | A | c.559C>T | p.Arg187Ter | nonsense |
TBC1D32 | 6:121602737 | Exon 14/32 | T | C | c.1561A>G | p.Ile521 Val | missense |
THEMIS | 6:128040861 | Exon 6/7 | CCTTT | C | c.1979_1982delAAAG | p.Glu621GlyfsTer9 | frameshift/stop |
USPL1 | 13:31195297 | Exon 2/9 | T | C | c.20T>C | p.Ile7Thr | missense |
HHIPL1 | 14:100118886 | Exon 2/8 | G | A | c.581 G>A | p.Arg194His | missense |
GPR132 | 14:105517528 | Exon 3/3 | G | A | c.946C>T | p.Arg316Cys | missense |
MYBPC2 | 19:50939323 | Exon 4/28 | C | T | c.251 C>T | p.Pro84Leu | missense |
MYBPC2 | 19:50946971 | Exon 11/28 | C | T | c.1031 C>T | p.Pro344Leu | missense |
POLA1 | X:24757653 | Exon 20/37 | A | G | c.2184A>G | p.Ile728Met | missense |
WNK3 | X:54278026 | Exon 14/24 | T | A | c.2462A>T | p.His821 Leu | missense |
G | A | c.4481 C>T | p.Pro1494Leu | missense |
OMIM | |||||
---|---|---|---|---|---|
0.00186776 | G/A | G/A > | G/G | G/G | none |
0 | C/T | C/C | C/T | C/T | none |
0.00026499 | A/A | G/A | G/A | G/A | none |
8.28E-06 | A/A | G/A | G/A | G/G | 615527, familial Candidiasis |
0.00018284 | C/C | T/C | T/C | T/T | none |
C/C CC | TTT/C | CCTTT/C | CCTTT/C | none | |
0.00094032 | C/C | T/C | T/C | T/C | none |
0.00062418 | A/A | G/A | G/A | G/A | none |
0.00010728 | A/A | G/A | G/A | G/G | none |
0.00011153 | C/T | C/C | C/T | C/T | none |
7.46E-05 | C/T | C/T | C/C | C/C | none |
0 | G/G | A/A | A/G | A/A | 301220,301030 Van Esch-O’Driscoll syndrome |
0 | A/A | T/T | T/A | T/T | none |
0 | A/A | G/G | G/A |