Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94031026_94031027delinsCA | CA1181415162 | ABCA4 | c.4222_4223delinsTG (p.Trp1408=) c.598_599delinsTG (p.Trp200=) | |
1 | g.94031027del | CA915941340 | ABCA4 | c.4222del (p.Trp1408GlyfsTer28) c.598del (p.Trp200GlyfsTer28) | ClinVar dbSNP gnomAD v4 |
1 | g.94031027A= | CA1140726175 | ABCA4 | c.4222T= (p.Trp1408=) c.598T= (p.Trp200=) | |
1 | g.94031027A>C | CA341286142 | ABCA4 | c.4222T>G (p.Trp1408Gly) c.598T>G (p.Trp200Gly) | |
1 | g.94031027A>G | CA227166 | ABCA4 | c.4222T>C (p.Trp1408Arg) c.598T>C (p.Trp200Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94031027A>T | CA341286145 | ABCA4 | c.4222T>A (p.Trp1408Arg) c.598T>A (p.Trp200Arg) | |
1 | g.94031028G>A | CA418825089 | ABCA4 | c.4221C>T (p.Pro1407=) c.597C>T (p.Pro199=) | |
1 | g.94031028G>C | CA418825088 | ABCA4 | c.4221C>G (p.Pro1407=) c.597C>G (p.Pro199=) | |
1 | g.94031028G>T | CA418825087 | ABCA4 | c.4221C>A (p.Pro1407=) c.597C>A (p.Pro199=) | |
1 | g.94031029G>A | CA16617203 | ABCA4 | c.4220C>T (p.Pro1407Leu) c.596C>T (p.Pro199Leu) | ClinVar dbSNP |
1 | g.94031029G>C | CA341286147 | ABCA4 | c.4220C>G (p.Pro1407Arg) c.596C>G (p.Pro199Arg) | |
1 | g.94031029G= | CA1181415163 | ABCA4 | c.4220C= (p.Pro1407=) c.596C= (p.Pro199=) | |
1 | g.94031029G>T | CA341286149 | ABCA4 | c.4220C>A (p.Pro1407His) c.596C>A (p.Pro199His) | |
1 | g.94031030G>A | CA341286151 | ABCA4 | c.4219C>T (p.Pro1407Ser) c.595C>T (p.Pro199Ser) | ClinVar COSMIC |
1 | g.94031030G>C | CA341286152 | ABCA4 | c.4219C>G (p.Pro1407Ala) c.595C>G (p.Pro199Ala) | |
1 | g.94031030G>T | CA341286154 | ABCA4 | c.4219C>A (p.Pro1407Thr) c.595C>A (p.Pro199Thr) | gnomAD v4 |
1 | g.94031031G>A | CA418825093 | ABCA4 | c.4218C>T (p.His1406=) c.594C>T (p.His198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94031031G>C | CA341286156 | ABCA4 | c.4218C>G (p.His1406Gln) c.594C>G (p.His198Gln) | |
1 | g.94031031G= | CA1181415164 | ABCA4 | c.4218C= (p.His1406=) c.594C= (p.His198=) | |
1 | g.94031031G>T | CA341286157 | ABCA4 | c.4218C>A (p.His1406Gln) c.594C>A (p.His198Gln) | |
1 | g.94031032del | CA2586966890 | ABCA4 | c.4217del (p.His1406ProfsTer30) c.593del (p.His198ProfsTer30) | |
1 | g.94031032T>A | CA341286163 | ABCA4 | c.4217A>T (p.His1406Leu) c.593A>T (p.His198Leu) | |
1 | g.94031032T>C | CA341286159 | ABCA4 | c.4217A>G (p.His1406Arg) c.593A>G (p.His198Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.94031032T>G | CA341286161 | ABCA4 | c.4217A>C (p.His1406Pro) c.593A>C (p.His198Pro) | |
1 | g.94031032T= | CA1181415165 | ABCA4 | c.4217A= (p.His1406=) c.593A= (p.His198=) | |
1 | g.94031033del | CA2586966892 | ABCA4 | c.4216del (p.His1406ThrfsTer30) c.592del (p.His198ThrfsTer30) | |
1 | g.94031033G>A | CA227165 | ABCA4 | c.4216C>T (p.His1406Tyr) c.592C>T (p.His198Tyr) | ClinVar dbSNP gnomAD v4 |
1 | g.94031033G>C | CA341286165 | ABCA4 | c.4216C>G (p.His1406Asp) c.592C>G (p.His198Asp) | gnomAD v4 |
1 | g.94031033G= | CA1140726176 | ABCA4 | c.4216C= (p.His1406=) c.592C= (p.His198=) | |
1 | g.94031033G>T | CA341286167 | ABCA4 | c.4216C>A (p.His1406Asn) c.592C>A (p.His198Asn) | |
1 | g.94031034A>C | CA418825094 | ABCA4 | c.4215T>G (p.Leu1405=) c.591T>G (p.Leu197=) | |
1 | g.94031034A>G | CA418825095 | ABCA4 | c.4215T>C (p.Leu1405=) c.591T>C (p.Leu197=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94031034A>T | CA418825096 | ABCA4 | c.4215T>A (p.Leu1405=) c.591T>A (p.Leu197=) | |
1 | g.94031035A>C | CA341286169 | ABCA4 | c.4214T>G (p.Leu1405Arg) c.590T>G (p.Leu197Arg) | |
1 | g.94031035A>G | CA341286171 | ABCA4 | c.4214T>C (p.Leu1405Pro) c.590T>C (p.Leu197Pro) | |
1 | g.94031035A>T | CA341286173 | ABCA4 | c.4214T>A (p.Leu1405His) c.590T>A (p.Leu197His) | |
1 | g.94031036G>A | CA341286174 | ABCA4 | c.4213C>T (p.Leu1405Phe) c.589C>T (p.Leu197Phe) | |
1 | g.94031036G>C | CA341286176 | ABCA4 | c.4213C>G (p.Leu1405Val) c.589C>G (p.Leu197Val) | |
1 | g.94031036G>T | CA341286177 | ABCA4 | c.4213C>A (p.Leu1405Ile) c.589C>A (p.Leu197Ile) | |
1 | g.94031037G>A | CA957685 | ABCA4 | c.4212C>T (p.Thr1404=) c.588C>T (p.Thr196=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94031037G>C | CA418825100 | ABCA4 | c.4212C>G (p.Thr1404=) c.588C>G (p.Thr196=) | |
1 | g.94031037G= | CA1181415166 | ABCA4 | c.4212C= (p.Thr1404=) c.588C= (p.Thr196=) | |
1 | g.94031037G>T | CA418825101 | ABCA4 | c.4212C>A (p.Thr1404=) c.588C>A (p.Thr196=) | gnomAD v4 |
1 | g.94031038G>A | CA341286187 | ABCA4 | c.4211C>T (p.Thr1404Ile) c.587C>T (p.Thr196Ile) | COSMIC |
1 | g.94031038G>C | CA341286189 | ABCA4 | c.4211C>G (p.Thr1404Ser) c.587C>G (p.Thr196Ser) | |
1 | g.94031038G>T | CA341286178 | ABCA4 | c.4211C>A (p.Thr1404Asn) c.587C>A (p.Thr196Asn) | |
1 | g.94031039T>A | CA341286191 | ABCA4 | c.4210A>T (p.Thr1404Ser) c.586A>T (p.Thr196Ser) | |
1 | g.94031039T>C | CA341286193 | ABCA4 | c.4210A>G (p.Thr1404Ala) c.586A>G (p.Thr196Ala) | |
1 | g.94031039T>G | CA341286194 | ABCA4 | c.4210A>C (p.Thr1404Pro) c.586A>C (p.Thr196Pro) | |
1 | g.94031040C>A | CA341286196 | ABCA4 | c.4209G>T (p.Leu1403Phe) c.585G>T (p.Leu195Phe) |