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.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 |
1 | g.216418597T= | CA1220688293 | USH2A | c.568A= (p.Thr190=) | |
1 | g.216418598G>A | CA1396749 | USH2A | c.567C>T (p.Arg189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216418598G>C | CA423396261 | USH2A | c.567C>G (p.Arg189=) | |
1 | g.216418598G= | CA1220688294 | USH2A | c.567C= (p.Arg189=) | |
1 | g.216418598G>T | CA423396262 | USH2A | c.567C>A (p.Arg189=) | |
1 | g.216418599C>A | CA1396751 | USH2A | c.566G>T (p.Arg189Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418599C= | CA1148561315 | USH2A | c.566G= (p.Arg189=) | |
1 | g.216418599C>G | CA344902505 | USH2A | c.566G>C (p.Arg189Pro) | gnomAD v4 |
1 | g.216418599C>T | CA1396750 | USH2A | c.566G>A (p.Arg189His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216418600G>A | CA1396752 | USH2A | c.565C>T (p.Arg189Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216418600G>C | CA344902507 | USH2A | c.565C>G (p.Arg189Gly) | |
1 | g.216418600G= | CA1143744040 | USH2A | c.565C= (p.Arg189=) | |
1 | g.216418600G>T | CA344902506 | USH2A | c.565C>A (p.Arg189Ser) | |
1 | g.216418601A>C | CA344902508 | USH2A | c.564T>G (p.Tyr188Ter) | |
1 | g.216418601A>G | CA423396264 | USH2A | c.564T>C (p.Tyr188=) | |
1 | g.216418601A>T | CA344902509 | USH2A | c.564T>A (p.Tyr188Ter) | |
1 | g.216418602T>A | CA344902510 | USH2A | c.563A>T (p.Tyr188Phe) | |
1 | g.216418602T>C | CA344902511 | USH2A | c.563A>G (p.Tyr188Cys) | ClinVar |
1 | g.216418602T>G | CA344902512 | USH2A | c.563A>C (p.Tyr188Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.216418603A= | CA1220688308 | USH2A | c.562T= (p.Tyr188=) | |
1 | g.216418603A>C | CA344902513 | USH2A | c.562T>G (p.Tyr188Asp) | |
1 | g.216418603A>G | CA344902514 | USH2A | c.562T>C (p.Tyr188His) | ClinVar dbSNP gnomAD v2 |
1 | g.216418603A>T | CA344902515 | USH2A | c.562T>A (p.Tyr188Asn) | |
1 | g.216418604A>C | CA344902516 | USH2A | c.561T>G (p.Tyr187Ter) | |
1 | g.216418604A>G | CA423396265 | USH2A | c.561T>C (p.Tyr187=) | |
1 | g.216418604A>T | CA344902517 | USH2A | c.561T>A (p.Tyr187Ter) | |
1 | g.216418605T>A | CA344902518 | USH2A | c.560A>T (p.Tyr187Phe) | |
1 | g.216418605T>C | CA344902519 | USH2A | c.560A>G (p.Tyr187Cys) | |
1 | g.216418605T>G | CA344902520 | USH2A | c.560A>C (p.Tyr187Ser) | ClinVar dbSNP |