Patient ID | CHH gene | Variant location | Change | Variant details | dbSNP | EVS MAF | ExAC total freq. | ExAC SA/EA | ClinVar/HGMD | In silico predictions | GERP++ RS score | Previous functional studies |
---|---|---|---|---|---|---|---|---|---|---|---|---|
173 | PROKR2 | chr20:5283278-5283279 | G/A | PROKR2:NM_144773:c.C563T:p.S188L | rs376239580 | 0.0077 | 0.00002 | 0/0 | Yes—likely pathogenic for CHH | 3 of 4 | 5.31 | Cole et al. (2008); Zhu et al. (2015) |
143 | PROKR2 | chr20:5283278-5283279 | G/A | PROKR2:NM_144773:c.C563T:p.S188L | rs376239580 | 0.0077 | 0.00002 | 0/0 | Yes—likely pathogenic for CHH | 3 of 4 | 5.31 | Cole et al. (2008); Zhu et al. (2015) |
159 | PROKR2 | chr20:5282850-5282851 | C/T | PROKR2:NM_144773:c.G991A:p.V331M | rs117106081 | 0.0154 | 0.00652 | 0.03119/0.02901 | Yes—CHH | 0 of 4 | 2.01 | Dodé (2006); Monnier et al. (2009); Cole et al. (2008) |
171 | PROKR2 | chr20:5282787-5282788 | A/C | PROKR2:NM_144773:c.T1054G:p.W352G | Not found | 0 | 0.00000 | 0.00 | Not found | 4 of 4 | 5.05 | |
47 | PROK2 | chr3:71834136-71834137 | C/T | PROK2:NM_001126128:c.G68A:p.R23H | Not found | 0 | 0.00000 | 0/0 | Not found | 0 of 4 | 2.47 | |
174 | WDR11 | chr10:122650293-122650294 | G/T | WDR11:NM_018117:c.G2409T:p.W803C | Not found | 0 | 0.00000 | 0/0 | Not found | 4 of 4 | 5.79 | |
164 | WDR11 | chr10 :122630739-122630740 | A/G | WDR11:NM_018117:c.A1352G:p.H451R | rs199920020 | 0 | 0.00007 | 0/0.00104 | Not found | 2 of 4 | 3.575 | |
163 | WDR11 | chr10:122626666-122626667 | T/A | WDR11:NM_018117:c.T1279A:p.L427I | Not found | 0 | 0.00000 | 0/0 | Not found | 3 of 4 | 3.11 | |
147 | FGFR1 | chr8:38287238-38287239 | G/A | FGFR1:NM_001174063:c.C320T:p.S107L | rs140382957 | 0.0077 | 0.00253 | 0.0002393/0.0454 | 1 record—benign | 2 of 4 | 3.6 | Sato (2004); Sykiotis (2010); Fukami et al. (2013) |
101 | CHD7 | chr8:61655556-61655557 | G/T | CHD7: NM_017780:c.G1565T:p.G522V | rs142962579 | 0 | 0.00232 | 0.0003717/0.03098 | Not found | 3 of 4 | 5.67 | |
FGFR1 | chr8:38287238-38287239 | G/A | FGFR1:NM_001174063:c.C320T:p.S107L | rs140382957 | 0.0077 | 0.00253 | 0.0002393/0.0454 | 1 record—benign | 2 of 4 | 3.6 | Sato (2004), Sykiotis (2010); Fukami et al (2013) | |
169 | FGFR1 | chr8:38287238-38287239 | G/A | FGFR1:NM_001174063:c.C320T:p.S107L | rs140382957 | 0.0077 | 0.00253 | 0.0002393/0.0454 | 1 record—benign | 2 of 4 | 3.6 | Sato (2004); Sykiotis (2010); Fukami et al. (2013) |
CHD7 | chr8:61713055-61713056 | C/T | CHD7:NM_017780:c.C2347T:p.P783S | rs373873996 | 0 | 0.00009 | 6.152e−05/0.00117 | 1 record—benign for CHARGE | 2 of 4 | 5.81 | ||
LEP | chr7:127892124-127892125 | A/G | LEP:NM_000230:c.A53G:p.Y18C | rs148407750 | 0.0461 | 0.00041 | 6.056e−05/0.003004 | Not found | 0 of 4 | 1.13 |