| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.78870935C>A | CA502131150 | CEP295NL,TIMP2 | c.72G>T (p.Ser24=) c.303G>T (p.Ser101=) | gnomAD v4 |
| 17 | g.78870935C= | CA2277198166 | CEP295NL,TIMP2 | c.72G= (p.Ser24=) c.303G= (p.Ser101=) | |
| 17 | g.78870935C>G | CA502131148 | CEP295NL,TIMP2 | c.72G>C (p.Ser24=) c.303G>C (p.Ser101=) | gnomAD v4 |
| 17 | g.78870935C>T | CA8807703 | CEP295NL,TIMP2 | c.72G>A (p.Ser24=) c.303G>A (p.Ser101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870936G>A | CA294435254 | CEP295NL,TIMP2 | c.71C>T (p.Ser24Leu) c.302C>T (p.Ser101Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870936G>C | CA401286782 | CEP295NL,TIMP2 | c.71C>G (p.Ser24Trp) c.302C>G (p.Ser101Trp) | |
| 17 | g.78870936G= | CA2277198167 | CEP295NL,TIMP2 | c.71C= (p.Ser24=) c.302C= (p.Ser101=) | |
| 17 | g.78870936G>T | CA401286781 | CEP295NL,TIMP2 | c.71C>A (p.Ser24Ter) c.302C>A (p.Ser101Ter) | |
| 17 | g.78870937A>C | CA401286785 | CEP295NL,TIMP2 | c.70T>G (p.Ser24Ala) c.301T>G (p.Ser101Ala) | gnomAD v4 |
| 17 | g.78870937A>G | CA401286787 | CEP295NL,TIMP2 | c.70T>C (p.Ser24Pro) c.301T>C (p.Ser101Pro) | |
| 17 | g.78870937A>T | CA401286789 | CEP295NL,TIMP2 | c.70T>A (p.Ser24Thr) c.301T>A (p.Ser101Thr) | |
| 17 | g.78870938G>A | CA502131159 | CEP295NL,TIMP2 | c.69C>T (p.Val23=) c.300C>T (p.Val100=) | dbSNP gnomAD v4 |
| 17 | g.78870938G>C | CA502131161 | CEP295NL,TIMP2 | c.69C>G (p.Val23=) c.300C>G (p.Val100=) | |
| 17 | g.78870938G= | CA2277198168 | CEP295NL,TIMP2 | c.69C= (p.Val23=) c.300C= (p.Val100=) | |
| 17 | g.78870938G>T | CA502131164 | CEP295NL,TIMP2 | c.69C>A (p.Val23=) c.300C>A (p.Val100=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.78870939A>C | CA401286792 | CEP295NL,TIMP2 | c.68T>G (p.Val23Gly) c.299T>G (p.Val100Gly) | |
| 17 | g.78870939A>G | CA401286794 | CEP295NL,TIMP2 | c.68T>C (p.Val23Ala) c.299T>C (p.Val100Ala) | |
| 17 | g.78870939A>T | CA401286799 | CEP295NL,TIMP2 | c.68T>A (p.Val23Asp) c.299T>A (p.Val100Asp) | |
| 17 | g.78870940C>A | CA8807704 | CEP295NL,TIMP2 | c.67G>T (p.Val23Phe) c.298G>T (p.Val100Phe) | dbSNP ExAC gnomAD v4 |
| 17 | g.78870940C= | CA2277198169 | CEP295NL,TIMP2 | c.67G= (p.Val23=) c.298G= (p.Val100=) | |
| 17 | g.78870940C>G | CA401286805 | CEP295NL,TIMP2 | c.67G>C (p.Val23Leu) c.298G>C (p.Val100Leu) | |
| 17 | g.78870940C>T | CA8807705 | CEP295NL,TIMP2 | c.67G>A (p.Val23Ile) c.298G>A (p.Val100Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870941C>A | CA8807706 | CEP295NL,TIMP2 | c.66G>T (p.Gly22=) c.297G>T (p.Gly99=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78870941C= | CA2277198170 | CEP295NL,TIMP2 | c.66G= (p.Gly22=) c.297G= (p.Gly99=) | |
| 17 | g.78870941C>G | CA502131175 | CEP295NL,TIMP2 | c.66G>C (p.Gly22=) c.297G>C (p.Gly99=) | |
| 17 | g.78870941C>T | CA502131176 | CEP295NL,TIMP2 | c.66G>A (p.Gly22=) c.297G>A (p.Gly99=) | gnomAD v4 |
| 17 | g.78870942C>A | CA401286809 | CEP295NL,TIMP2 | c.65G>T (p.Gly22Val) c.296G>T (p.Gly99Val) | |
| 17 | g.78870942C>G | CA401286811 | CEP295NL,TIMP2 | c.65G>C (p.Gly22Ala) c.296G>C (p.Gly99Ala) | |
| 17 | g.78870942C>T | CA401286813 | CEP295NL,TIMP2 | c.65G>A (p.Gly22Glu) c.296G>A (p.Gly99Glu) | |
| 17 | g.78870943C>A | CA401286815 | CEP295NL,TIMP2 | c.64G>T (p.Gly22Trp) c.295G>T (p.Gly99Trp) | |
| 17 | g.78870943C>G | CA401286818 | CEP295NL,TIMP2 | c.64G>C (p.Gly22Arg) c.295G>C (p.Gly99Arg) | |
| 17 | g.78870943C>T | CA401286819 | CEP295NL,TIMP2 | c.64G>A (p.Gly22Arg) c.295G>A (p.Gly99Arg) | |
| 17 | g.78870944A>C | CA401286822 | CEP295NL,TIMP2 | c.63T>G (p.Cys21Trp) c.294T>G (p.Cys98Trp) | |
| 17 | g.78870944A>G | CA502131186 | CEP295NL,TIMP2 | c.63T>C (p.Cys21=) c.294T>C (p.Cys98=) | dbSNP |
| 17 | g.78870944A>T | CA401286824 | CEP295NL,TIMP2 | c.63T>A (p.Cys21Ter) c.294T>A (p.Cys98Ter) | |
| 17 | g.78870945C>A | CA401286827 | CEP295NL,TIMP2 | c.62G>T (p.Cys21Phe) c.293G>T (p.Cys98Phe) | |
| 17 | g.78870945C>G | CA401286829 | CEP295NL,TIMP2 | c.62G>C (p.Cys21Ser) c.293G>C (p.Cys98Ser) | |
| 17 | g.78870945C>T | CA401286831 | CEP295NL,TIMP2 | c.62G>A (p.Cys21Tyr) c.293G>A (p.Cys98Tyr) | gnomAD v4 |
| 17 | g.78870946A>C | CA401286839 | CEP295NL,TIMP2 | c.61T>G (p.Cys21Gly) c.292T>G (p.Cys98Gly) | |
| 17 | g.78870946A>G | CA401286834 | CEP295NL,TIMP2 | c.61T>C (p.Cys21Arg) c.292T>C (p.Cys98Arg) | |
| 17 | g.78870946A>T | CA401286836 | CEP295NL,TIMP2 | c.61T>A (p.Cys21Ser) c.292T>A (p.Cys98Ser) | |
| 17 | g.78870947C>A | CA502131197 | CEP295NL,TIMP2 | c.60G>T (p.Val20=) c.291G>T (p.Val97=) | |
| 17 | g.78870947C= | CA2277198171 | CEP295NL,TIMP2 | c.60G= (p.Val20=) c.291G= (p.Val97=) | |
| 17 | g.78870947C>G | CA502131199 | CEP295NL,TIMP2 | c.60G>C (p.Val20=) c.291G>C (p.Val97=) | |
| 17 | g.78870947C>T | CA8807707 | CEP295NL,TIMP2 | c.60G>A (p.Val20=) c.291G>A (p.Val97=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78870948A>C | CA401286842 | CEP295NL,TIMP2 | c.59T>G (p.Val20Gly) c.290T>G (p.Val97Gly) | |
| 17 | g.78870948A>G | CA401286844 | CEP295NL,TIMP2 | c.59T>C (p.Val20Ala) c.290T>C (p.Val97Ala) | |
| 17 | g.78870948A>T | CA401286847 | CEP295NL,TIMP2 | c.59T>A (p.Val20Glu) c.290T>A (p.Val97Glu) | |
| 17 | g.78870949C>A | CA401286850 | CEP295NL,TIMP2 | c.58G>T (p.Val20Leu) c.289G>T (p.Val97Leu) | |
| 17 | g.78870949C= | CA2277198172 | CEP295NL,TIMP2 | c.58G= (p.Val20=) c.289G= (p.Val97=) |