Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215813805_215813807del | CA1394244 | USH2A | c.9672_9674del (p.Gly3225del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215813806A>C | CA344821789 | USH2A | c.9669T>G (p.Cys3223Trp) | |
1 | g.215813806A>G | CA423307551 | USH2A | c.9669T>C (p.Cys3223=) | |
1 | g.215813806A>T | CA344821791 | USH2A | c.9669T>A (p.Cys3223Ter) | ClinVar |
1 | g.215813807C>A | CA344821794 | USH2A | c.9668G>T (p.Cys3223Phe) | |
1 | g.215813807C= | CA1220432914 | USH2A | c.9668G= (p.Cys3223=) | |
1 | g.215813807C>G | CA344821797 | USH2A | c.9668G>C (p.Cys3223Ser) | ClinVar dbSNP |
1 | g.215813807C>T | CA344821799 | USH2A | c.9668G>A (p.Cys3223Tyr) | gnomAD v4 |
1 | g.215813808A>C | CA344821802 | USH2A | c.9667T>G (p.Cys3223Gly) | |
1 | g.215813808A>G | CA344821807 | USH2A | c.9667T>C (p.Cys3223Arg) | |
1 | g.215813808A>T | CA344821804 | USH2A | c.9667T>A (p.Cys3223Ser) | |
1 | g.215813809A= | CA1220432915 | USH2A | c.9666T= (p.Cys3222=) | |
1 | g.215813809A>C | CA344821810 | USH2A | c.9666T>G (p.Cys3222Trp) | |
1 | g.215813809A>G | CA423307559 | USH2A | c.9666T>C (p.Cys3222=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215813809A>T | CA344821812 | USH2A | c.9666T>A (p.Cys3222Ter) | |
1 | g.215813810C>A | CA344821815 | USH2A | c.9665G>T (p.Cys3222Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215813810C= | CA1220432916 | USH2A | c.9665G= (p.Cys3222=) | |
1 | g.215813810C>G | CA344821817 | USH2A | c.9665G>C (p.Cys3222Ser) | |
1 | g.215813810C>T | CA1394245 | USH2A | c.9665G>A (p.Cys3222Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215813811A>C | CA344821821 | USH2A | c.9664T>G (p.Cys3222Gly) | |
1 | g.215813811A>G | CA344821823 | USH2A | c.9664T>C (p.Cys3222Arg) | |
1 | g.215813811A>T | CA344821825 | USH2A | c.9664T>A (p.Cys3222Ser) | |
1 | g.215813812A>C | CA423307567 | USH2A | c.9663T>G (p.Val3221=) | |
1 | g.215813812A>G | CA423307569 | USH2A | c.9663T>C (p.Val3221=) | |
1 | g.215813812A>T | CA423307571 | USH2A | c.9663T>A (p.Val3221=) | |
1 | g.215813813A>C | CA344821828 | USH2A | c.9662T>G (p.Val3221Gly) | |
1 | g.215813813A>G | CA344821830 | USH2A | c.9662T>C (p.Val3221Ala) | |
1 | g.215813813A>T | CA344821832 | USH2A | c.9662T>A (p.Val3221Asp) | |
1 | g.215813814C>A | CA344821839 | USH2A | c.9661G>T (p.Val3221Phe) | |
1 | g.215813814C>G | CA344821837 | USH2A | c.9661G>C (p.Val3221Leu) | |
1 | g.215813814C>T | CA344821835 | USH2A | c.9661G>A (p.Val3221Ile) | |
1 | g.215813815T>A | CA423307579 | USH2A | c.9660A>T (p.Gly3220=) | |
1 | g.215813815T>C | CA423307578 | USH2A | c.9660A>G (p.Gly3220=) | |
1 | g.215813815T>G | CA423307576 | USH2A | c.9660A>C (p.Gly3220=) | |
1 | g.215813816C>A | CA344821842 | USH2A | c.9659G>T (p.Gly3220Val) | |
1 | g.215813816C= | CA1220432917 | USH2A | c.9659G= (p.Gly3220=) | |
1 | g.215813816C>G | CA344821846 | USH2A | c.9659G>C (p.Gly3220Ala) | |
1 | g.215813816C>T | CA344821844 | USH2A | c.9659G>A (p.Gly3220Glu) | dbSNP |
1 | g.215813817C>A | CA344821850 | USH2A | c.9658G>T (p.Gly3220Ter) | |
1 | g.215813817C>G | CA344821852 | USH2A | c.9658G>C (p.Gly3220Arg) | |
1 | g.215813817C>T | CA344821854 | USH2A | c.9658G>A (p.Gly3220Arg) | |
1 | g.215813818A= | CA1220432918 | USH2A | c.9657T= (p.Thr3219=) | |
1 | g.215813818A>C | CA423307584 | USH2A | c.9657T>G (p.Thr3219=) | |
1 | g.215813818A>G | CA423307585 | USH2A | c.9657T>C (p.Thr3219=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.215813818A>T | CA423307587 | USH2A | c.9657T>A (p.Thr3219=) | |
1 | g.215813819G>A | CA344821857 | USH2A | c.9656C>T (p.Thr3219Ile) | |
1 | g.215813819G>C | CA344821859 | USH2A | c.9656C>G (p.Thr3219Ser) | dbSNP |
1 | g.215813819G= | CA1220432919 | USH2A | c.9656C= (p.Thr3219=) | |
1 | g.215813819G>T | CA344821861 | USH2A | c.9656C>A (p.Thr3219Asn) | |
1 | g.215813820T>A | CA344821865 | USH2A | c.9655A>T (p.Thr3219Ser) |