1 | g.216418539_216418680delinsTTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC | CA1220688185 | USH2A | c.486-1_626delinsGGTGTGTTATAGAAAAGACAGTAGATGGGCAGATTGTGTTCAAACTTACAATATCTGAGAAAGAGACCATGTTTTATTATCGCACAGTAAATGGTTTGCAACCTCCAATAAAAGTAATGACACTGGGGAGAATTCTTGTGAA
| |
1 | g.216418678_216418679del | CA2586968315 | USH2A | c.490_491del (p.Val164TyrfsTer17)
| |
1 | g.216418679C>T | CA344902900 | USH2A | c.486G>A (p.Met162Ile)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.216418679_216418680insA | CA2747740485 | USH2A | c.486-1_486insT (n.486-1_486insT)
| |
1 | g.216418680C>G | CA10576390 | USH2A | c.486-1G>C (n.486-1G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.216418680_216418683delinsCTTA | CA1220688454 | USH2A | c.486-4_486-1delinsTAAG (n.486-4_486-1delinsTAAG)
| |
1 | g.216418681_216418683del | CA1396768 | USH2A | c.486-4_486-2del (n.486-4_486-2del)
| ClinVar dbSNP ExAC gnomAD v2 |
1 | g.216418681_216418683delinsTTA | CA1148568280 | USH2A | c.486-4_486-2delinsTAA (n.486-4_486-2delinsTAA)
| |
1 | g.216418683A>G | CA1396769 | USH2A | c.486-4T>C (n.486-4T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216418686A>C | CA1396770 | USH2A | c.486-7T>G (n.486-7T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418687_216418688del | CA2747740486 | USH2A | c.486-9_486-8del (n.486-9_486-8del)
| |
1 | g.216418688G>A | CA37921749 | USH2A | c.486-9C>T (n.486-9C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418689C>A | CA2739275660 | USH2A | c.486-10G>T (n.486-10G>T)
| ClinVar |
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>T | CA179592 | USH2A | c.486-13G>A (n.486-13G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418692_216418693insACA | CA2747740487 | USH2A | c.486-14_486-13insTGT (n.486-14_486-13insTGT)
| |
1 | g.216418693C>A | CA2747740489 | USH2A | c.486-14G>T (n.486-14G>T)
| |
1 | g.216418693C>T | CA1396771 | USH2A | c.486-14G>A (n.486-14G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418693_216418696del | CA2747740488 | USH2A | c.486-17_486-14del (n.486-17_486-14del)
| |
1 | g.216418694G>A | CA1396772 | USH2A | c.486-15C>T (n.486-15C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418694G>C | CA646414863 | USH2A | c.486-15C>G (n.486-15C>G)
| COSMIC |
1 | g.216418694G>T | CA2650513330 | USH2A | c.486-15C>A (n.486-15C>A)
| gnomAD v4 |