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.216418585A>C | CA344902478 | USH2A | c.580T>G (p.Leu194Val) | |
1 | g.216418585A>G | CA423396253 | USH2A | c.580T>C (p.Leu194=) | ClinVar dbSNP gnomAD v4 |
1 | g.216418585A>T | CA344902479 | USH2A | c.580T>A (p.Leu194Met) | |
1 | g.216418586A= | CA1220688267 | USH2A | c.579T= (p.Gly193=) | |
1 | g.216418586A>C | CA1396747 | USH2A | c.579T>G (p.Gly193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216418586A>G | CA423396254 | USH2A | c.579T>C (p.Gly193=) | ClinVar |
1 | g.216418586A>T | CA423396255 | USH2A | c.579T>A (p.Gly193=) | |
1 | g.216418587C>A | CA344902482 | USH2A | c.578G>T (p.Gly193Val) | |
1 | g.216418587C= | CA1220688270 | USH2A | c.578G= (p.Gly193=) | |
1 | g.216418587C>G | CA344902481 | USH2A | c.578G>C (p.Gly193Ala) | |
1 | g.216418587C>T | CA344902480 | USH2A | c.578G>A (p.Gly193Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216418588C>A | CA344902485 | USH2A | c.577G>T (p.Gly193Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418588C= | CA1220688272 | USH2A | c.577G= (p.Gly193=) | |
1 | g.216418588C>G | CA344902483 | USH2A | c.577G>C (p.Gly193Arg) | ClinVar dbSNP |
1 | g.216418588C>T | CA344902484 | USH2A | c.577G>A (p.Gly193Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.216418589A>C | CA344902486 | USH2A | c.576T>G (p.Asn192Lys) | |
1 | g.216418589A>G | CA423396256 | USH2A | c.576T>C (p.Asn192=) | ClinVar |
1 | g.216418589A>T | CA344902487 | USH2A | c.576T>A (p.Asn192Lys) | |
1 | g.216418590T>A | CA344902488 | USH2A | c.575A>T (p.Asn192Ile) | |
1 | g.216418590T>C | CA344902489 | USH2A | c.575A>G (p.Asn192Ser) | COSMIC COSMIC COSMIC |
1 | g.216418590T>G | CA344902490 | USH2A | c.575A>C (p.Asn192Thr) | ClinVar dbSNP |
1 | g.216418590T= | CA1220688274 | USH2A | c.575A= (p.Asn192=) | |
1 | g.216418591T>A | CA344902491 | USH2A | c.574A>T (p.Asn192Tyr) | |
1 | g.216418591T>C | CA344902493 | USH2A | c.574A>G (p.Asn192Asp) | gnomAD v4 |
1 | g.216418591T>G | CA344902492 | USH2A | c.574A>C (p.Asn192His) | |
1 | g.216418592T>A | CA423396257 | USH2A | c.573A>T (p.Val191=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216418592T>C | CA143529 | USH2A | c.573A>G (p.Val191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418592T>G | CA423396258 | USH2A | c.573A>C (p.Val191=) | |
1 | g.216418592T= | CA1140854472 | USH2A | c.573A= (p.Val191=) | |
1 | g.216418593A>C | CA344902494 | USH2A | c.572T>G (p.Val191Gly) | |
1 | g.216418593A>G | CA344902495 | USH2A | c.572T>C (p.Val191Ala) | dbSNP gnomAD v4 |
1 | g.216418593A>T | CA344902496 | USH2A | c.572T>A (p.Val191Glu) | |
1 | g.216418594C>A | CA344902497 | USH2A | c.571G>T (p.Val191Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.216418594C= | CA1220688284 | USH2A | c.571G= (p.Val191=) | |
1 | g.216418594C>G | CA344902499 | USH2A | c.571G>C (p.Val191Leu) | |
1 | g.216418594C>T | CA344902498 | USH2A | c.571G>A (p.Val191Ile) | dbSNP COSMIC COSMIC COSMIC |
1 | g.216418595T>A | CA423396259 | USH2A | c.570A>T (p.Thr190=) | |
1 | g.216418595T>C | CA423396260 | USH2A | c.570A>G (p.Thr190=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216418595T>G | CA37921745 | USH2A | c.570A>C (p.Thr190=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.216418595T= | CA1146232387 | USH2A | c.570A= (p.Thr190=) | |
1 | g.216418596G>A | CA344902500 | USH2A | c.569C>T (p.Thr190Ile) | gnomAD v4 |
1 | g.216418596G>C | CA344902501 | USH2A | c.569C>G (p.Thr190Arg) | gnomAD v4 |
1 | g.216418596G= | CA1220688291 | USH2A | c.569C= (p.Thr190=) | |
1 | g.216418596G>T | CA344902502 | USH2A | c.569C>A (p.Thr190Lys) | dbSNP COSMIC COSMIC COSMIC |
1 | g.216418597T>A | CA344902503 | USH2A | c.568A>T (p.Thr190Ser) | |
1 | g.216418597T>C | CA344902504 | USH2A | c.568A>G (p.Thr190Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.216418597T>G | CA1396748 | USH2A | c.568A>C (p.Thr190Pro) | dbSNP ExAC |