Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68438210_68438213dup | CA738213496 | RPE65 | c.1104_1107dup (p.Leu370CysfsTer7) c.828_831dup (p.Leu278CysfsTer7) | dbSNP |
1 | g.68438213A= | CA1140763378 | RPE65 | c.1102T= (p.Tyr368=) c.826T= (p.Tyr276=) | |
1 | g.68438213A>C | CA340744071 | RPE65 | c.1102T>G (p.Tyr368Asp) c.826T>G (p.Tyr276Asp) | |
1 | g.68438213A>G | CA226484 | RPE65 | c.1102T>C (p.Tyr368His) c.826T>C (p.Tyr276His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68438213A>T | CA340744072 | RPE65 | c.1102T>A (p.Tyr368Asn) c.826T>A (p.Tyr276Asn) | |
1 | g.68438214T>A | CA340744074 | RPE65 | c.1101A>T (p.Arg367Ser) c.825A>T (p.Arg275Ser) | |
1 | g.68438214T>C | CA418279061 | RPE65 | c.1101A>G (p.Arg367=) c.825A>G (p.Arg275=) | ClinVar dbSNP |
1 | g.68438214T>G | CA340744075 | RPE65 | c.1101A>C (p.Arg367Ser) c.825A>C (p.Arg275Ser) | |
1 | g.68438214T= | CA1173560846 | RPE65 | c.1101A= (p.Arg367=) c.825A= (p.Arg275=) | |
1 | g.68438215C>A | CA340744076 | RPE65 | c.1100G>T (p.Arg367Ile) c.824G>T (p.Arg275Ile) | |
1 | g.68438215C= | CA1173560847 | RPE65 | c.1100G= (p.Arg367=) c.824G= (p.Arg275=) | |
1 | g.68438215C>G | CA340744077 | RPE65 | c.1100G>C (p.Arg367Thr) c.824G>C (p.Arg275Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68438215C>T | CA340744078 | RPE65 | c.1100G>A (p.Arg367Lys) c.824G>A (p.Arg275Lys) | |
1 | g.68438216T>A | CA340744080 | RPE65 | c.1099A>T (p.Arg367Ter) c.823A>T (p.Arg275Ter) | |
1 | g.68438216T>C | CA340744082 | RPE65 | c.1099A>G (p.Arg367Gly) c.823A>G (p.Arg275Gly) | |
1 | g.68438216T>G | CA418279067 | RPE65 | c.1099A>C (p.Arg367=) c.823A>C (p.Arg275=) | |
1 | g.68438217C>A | CA340744083 | RPE65 | c.1098G>T (p.Arg366Ser) c.822G>T (p.Arg274Ser) | |
1 | g.68438217C= | CA1173560848 | RPE65 | c.1098G= (p.Arg366=) c.822G= (p.Arg274=) | |
1 | g.68438217C>G | CA340744085 | RPE65 | c.1098G>C (p.Arg366Ser) c.822G>C (p.Arg274Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.68438217C>T | CA902297 | RPE65 | c.1098G>A (p.Arg366=) c.822G>A (p.Arg274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68438218C>A | CA340744089 | RPE65 | c.1097G>T (p.Arg366Met) c.821G>T (p.Arg274Met) | |
1 | g.68438218C>G | CA340744090 | RPE65 | c.1097G>C (p.Arg366Thr) c.821G>C (p.Arg274Thr) | |
1 | g.68438218C>T | CA340744092 | RPE65 | c.1097G>A (p.Arg366Lys) c.821G>A (p.Arg274Lys) | gnomAD v4 |
1 | g.68438219T>A | CA340744095 | RPE65 | c.1096A>T (p.Arg366Trp) c.820A>T (p.Arg274Trp) | gnomAD v4 |
1 | g.68438219T>C | CA340744094 | RPE65 | c.1096A>G (p.Arg366Gly) c.820A>G (p.Arg274Gly) | dbSNP gnomAD v4 |
1 | g.68438219T>G | CA418279077 | RPE65 | c.1096A>C (p.Arg366=) c.820A>C (p.Arg274=) | gnomAD v4 |
1 | g.68438219T= | CA1173560849 | RPE65 | c.1096A= (p.Arg366=) c.820A= (p.Arg274=) | |
1 | g.68438220A>C | CA418279080 | RPE65 | c.1095T>G (p.Val365=) c.819T>G (p.Val273=) | |
1 | g.68438220A>G | CA418279082 | RPE65 | c.1095T>C (p.Val365=) c.819T>C (p.Val273=) | |
1 | g.68438220A>T | CA418279084 | RPE65 | c.1095T>A (p.Val365=) c.819T>A (p.Val273=) | |
1 | g.68438221A>C | CA340744097 | RPE65 | c.1094T>G (p.Val365Gly) c.818T>G (p.Val273Gly) | |
1 | g.68438221A>G | CA340744098 | RPE65 | c.1094T>C (p.Val365Ala) c.818T>C (p.Val273Ala) | |
1 | g.68438221A>T | CA340744099 | RPE65 | c.1094T>A (p.Val365Asp) c.818T>A (p.Val273Asp) | |
1 | g.68438222C>A | CA340744101 | RPE65 | c.1093G>T (p.Val365Phe) c.817G>T (p.Val273Phe) | |
1 | g.68438222C>G | CA340744103 | RPE65 | c.1093G>C (p.Val365Leu) c.817G>C (p.Val273Leu) | |
1 | g.68438222C>T | CA340744107 | RPE65 | c.1093G>A (p.Val365Ile) c.817G>A (p.Val273Ile) | gnomAD v4 |
1 | g.68438223T>A | CA340744109 | RPE65 | c.1092A>T (p.Glu364Asp) c.816A>T (p.Glu272Asp) | |
1 | g.68438223T>C | CA902298 | RPE65 | c.1092A>G (p.Glu364=) c.816A>G (p.Glu272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68438223T>G | CA340744111 | RPE65 | c.1092A>C (p.Glu364Asp) c.816A>C (p.Glu272Asp) | gnomAD v4 |
1 | g.68438223T= | CA1173560850 | RPE65 | c.1092A= (p.Glu364=) c.816A= (p.Glu272=) | |
1 | g.68438224T>A | CA340744112 | RPE65 | c.1091A>T (p.Glu364Val) c.815A>T (p.Glu272Val) | gnomAD v4 |
1 | g.68438224T>C | CA340744113 | RPE65 | c.1091A>G (p.Glu364Gly) c.815A>G (p.Glu272Gly) | |
1 | g.68438224T>G | CA340744115 | RPE65 | c.1091A>C (p.Glu364Ala) c.815A>C (p.Glu272Ala) | |
1 | g.68438225C>A | CA340744116 | RPE65 | c.1090G>T (p.Glu364Ter) c.814G>T (p.Glu272Ter) | |
1 | g.68438225C>G | CA340744118 | RPE65 | c.1090G>C (p.Glu364Gln) c.814G>C (p.Glu272Gln) | gnomAD v4 |
1 | g.68438225C>T | CA340744117 | RPE65 | c.1090G>A (p.Glu364Lys) c.814G>A (p.Glu272Lys) | |
1 | g.68438226A>C | CA418279099 | RPE65 | c.1089T>G (p.Pro363=) c.813T>G (p.Pro271=) | |
1 | g.68438226A>G | CA418279101 | RPE65 | c.1089T>C (p.Pro363=) c.813T>C (p.Pro271=) | gnomAD v4 |
1 | g.68438226A>T | CA418279103 | RPE65 | c.1089T>A (p.Pro363=) c.813T>A (p.Pro271=) | |
1 | g.68438227G>A | CA340744119 | RPE65 | c.1088C>T (p.Pro363Leu) c.812C>T (p.Pro271Leu) | ClinVar dbSNP gnomAD v2 |