| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.216418539_216418680delinsTTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC | CA1220688185 | USH2A | c.486-1_626delinsGGTGTGTTATAGAAAAGACAGTAGATGGGCAGATTGTGTTCAAACTTACAATATCTGAGAAAGAGACCATGTTTTATTATCGCACAGTAAATGGTTTGCAACCTCCAATAAAAGTAATGACACTGGGGAGAATTCTTGTGAA | |
| 1 | g.216418541_216418681del | CA915942016 | USH2A | c.486-1_625del | ClinVar dbSNP |
| 1 | g.216418542_216418680del | CA2573132657 | USH2A | c.486_624del | ClinVar dbSNP |
| 1 | g.216418678_216418679del | CA2586968315 | USH2A | c.490_491del (p.Val164TyrfsTer17) | |
| 1 | g.216418675C>A | CA270157 | USH2A | c.490G>T (p.Val164Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216418675C= | CA1144233470 | USH2A | c.490G= (p.Val164=) | |
| 1 | g.216418675C>G | CA344902874 | USH2A | c.490G>C (p.Val164Leu) | gnomAD v4 |
| 1 | g.216418675C>T | CA344902871 | USH2A | c.490G>A (p.Val164Ile) | gnomAD v4 |
| 1 | g.216418676A>C | CA344902878 | USH2A | c.489T>G (p.Cys163Trp) | gnomAD v4 |
| 1 | g.216418676A>G | CA423396307 | USH2A | c.489T>C (p.Cys163=) | |
| 1 | g.216418676A>T | CA344902876 | USH2A | c.489T>A (p.Cys163Ter) | gnomAD v4 |
| 1 | g.216418677C>A | CA344902883 | USH2A | c.488G>T (p.Cys163Phe) | gnomAD v4 |
| 1 | g.216418677C>G | CA344902881 | USH2A | c.488G>C (p.Cys163Ser) | |
| 1 | g.216418677C>T | CA344902885 | USH2A | c.488G>A (p.Cys163Tyr) | gnomAD v4 |
| 1 | g.216418678A= | CA1220688444 | USH2A | c.487T= (p.Cys163=) | |
| 1 | g.216418678A>C | CA344902888 | USH2A | c.487T>G (p.Cys163Gly) | |
| 1 | g.216418678A>G | CA344902891 | USH2A | c.487T>C (p.Cys163Arg) | ClinVar dbSNP |
| 1 | g.216418678A>T | CA344902893 | USH2A | c.487T>A (p.Cys163Ser) | |
| 1 | g.216418679C>A | CA344902896 | USH2A | c.486G>T (p.Met162Ile) | |
| 1 | g.216418679C= | CA1220688447 | USH2A | c.486G= (p.Met162=) | |
| 1 | g.216418679C>G | CA344902898 | USH2A | c.486G>C (p.Met162Ile) | gnomAD v4 |
| 1 | g.216418679C>T | CA344902900 | USH2A | c.486G>A (p.Met162Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216418680C>A | CA344902903 | USH2A | c.486-1G>T (n.486-1G>T) | |
| 1 | g.216418680C= | CA1220688460 | USH2A | c.486-1G= (n.486-1G=) | |
| 1 | g.216418680C>G | CA10576390 | USH2A | c.486-1G>C (n.486-1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418680C>T | CA344902906 | USH2A | c.486-1G>A (n.486-1G>A) | gnomAD v4 |
| 1 | g.216418680_216418683delinsCTTA | CA1220688454 | USH2A | c.486-4_486-1delinsTAAG (n.486-4_486-1delinsTAAG) | |
| 1 | g.216418681T>A | CA344902910 | USH2A | c.486-2A>T (n.486-2A>T) | |
| 1 | g.216418681T>C | CA344902912 | USH2A | c.486-2A>G (n.486-2A>G) | |
| 1 | g.216418681T>G | CA344902914 | USH2A | c.486-2A>C (n.486-2A>C) | ClinVar |
| 1 | g.216418681_216418683del | CA1396768 | USH2A | c.486-4_486-2del (n.486-4_486-2del) | dbSNP ExAC gnomAD v2 |
| 1 | g.216418681_216418683delinsTTA | CA1148568280 | USH2A | c.486-4_486-2delinsTAA (n.486-4_486-2delinsTAA) | |
| 1 | g.216418682T>C | CA2574163800 | USH2A | c.486-3A>G (n.486-3A>G) | gnomAD v4 |
| 1 | g.216418683A= | CA1143546392 | USH2A | c.486-4T= (n.486-4T=) | |
| 1 | g.216418683A>C | CA731379439 | USH2A | c.486-4T>G (n.486-4T>G) | dbSNP |
| 1 | g.216418683A>G | CA1396769 | USH2A | c.486-4T>C (n.486-4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418684G>A | CA2650513328 | USH2A | c.486-5C>T (n.486-5C>T) | gnomAD v4 |
| 1 | g.216418685del | CA2650513327 | USH2A | c.486-5del (n.486-5del) | gnomAD v4 |
| 1 | g.216418685G>A | CA37921748 | USH2A | c.486-6C>T (n.486-6C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216418685G= | CA1220688468 | USH2A | c.486-6C= (n.486-6C=) | |
| 1 | g.216418686A= | CA1143226924 | USH2A | c.486-7T= (n.486-7T=) | |
| 1 | g.216418686A>C | CA1396770 | USH2A | c.486-7T>G (n.486-7T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418688G>A | CA37921749 | USH2A | c.486-9C>T (n.486-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418688G= | CA1220688473 | USH2A | c.486-9C= (n.486-9C=) | |
| 1 | g.216418689C>A | CA2739275660 | USH2A | c.486-10G>T (n.486-10G>T) | |
| 1 | g.216418689C>T | CA2650513329 | USH2A | c.486-10G>A (n.486-10G>A) | gnomAD v4 |
| 1 | g.216418692C>A | CA529004327 | USH2A | c.486-13G>T (n.486-13G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418692C= | CA1141526508 | USH2A | c.486-13G= (n.486-13G=) | |
| 1 | g.216418692C>T | CA179592 | USH2A | c.486-13G>A (n.486-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418693C= | CA1144001068 | USH2A | c.486-14G= (n.486-14G=) |