Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94029445C>A | CA341284764 | ABCA4 | c.4539G>T (p.Gln1513His) c.915G>T (p.Gln305His) | |
1 | g.94029445C>G | CA341284765 | ABCA4 | c.4539G>C (p.Gln1513His) c.915G>C (p.Gln305His) | ClinVar |
1 | g.94029445C>T | CA418824101 | ABCA4 | c.4539G>A (p.Gln1513=) c.915G>A (p.Gln305=) | |
1 | g.94029445_94029446insG | CA645372201 | ABCA4 | c.4538_4539insC (p.Gln1513HisfsTer?) c.914_915insC (p.Gln305HisfsTer?) | |
1 | g.94029446T>A | CA341284766 | ABCA4 | c.4538A>T (p.Gln1513Leu) c.914A>T (p.Gln305Leu) | |
1 | g.94029446T>C | CA227206 | ABCA4 | c.4538A>G (p.Gln1513Arg) c.914A>G (p.Gln305Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029446T>G | CA341284767 | ABCA4 | c.4538A>C (p.Gln1513Pro) c.914A>C (p.Gln305Pro) | |
1 | g.94029446T= | CA1143538145 | ABCA4 | c.4538A= (p.Gln1513=) c.914A= (p.Gln305=) | |
1 | g.94029446_94029447delinsTG | CA1181414541 | ABCA4 | c.4537_4538delinsCA (p.Gln1513=) c.913_914delinsCA (p.Gln305=) | |
1 | g.94029447G>A | CA341284768 | ABCA4 | c.4537C>T (p.Gln1513Ter) c.913C>T (p.Gln305Ter) | |
1 | g.94029447G>C | CA957581 | ABCA4 | c.4537C>G (p.Gln1513Glu) c.913C>G (p.Gln305Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029447G= | CA1181414542 | ABCA4 | c.4537C= (p.Gln1513=) c.913C= (p.Gln305=) | |
1 | g.94029447G>T | CA341284769 | ABCA4 | c.4537C>A (p.Gln1513Lys) c.913C>A (p.Gln305Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029447_94029453delinsGGGGGGG | CA1143538147 | ABCA4 | c.4531_4537delinsCCCCCCC (p.Pro1511=) c.907_913delinsCCCCCCC (p.Pro303=) | |
1 | g.94029453dup | CA227205 | ABCA4 | c.4537dup (p.Gln1513ProfsTer?) c.913dup (p.Gln305ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94029453del | CA524697424 | ABCA4 | c.4537del (p.Gln1513ArgfsTer13) c.913del (p.Gln305ArgfsTer13) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.94029447_94029448insC | CA2739292009 | ABCA4 | c.4536_4537insG (p.Gln1513AlafsTer?) c.912_913insG (p.Gln305AlafsTer?) | |
1 | g.94029448G>A | CA26853416 | ABCA4 | c.4536C>T (p.Pro1512=) c.912C>T (p.Pro304=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029448G>C | CA957582 | ABCA4 | c.4536C>G (p.Pro1512=) c.912C>G (p.Pro304=) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.94029448G= | CA1181414543 | ABCA4 | c.4536C= (p.Pro1512=) c.912C= (p.Pro304=) | |
1 | g.94029448G>T | CA418824122 | ABCA4 | c.4536C>A (p.Pro1512=) c.912C>A (p.Pro304=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.94029450_94029460del | CA2739292008 | ABCA4 | c.4526_4536del (p.Leu1509ProfsTer?) c.902_912del (p.Leu301ProfsTer?) | |
1 | g.94029449G>A | CA957583 | ABCA4 | c.4535C>T (p.Pro1512Leu) c.911C>T (p.Pro304Leu) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.94029449G>C | CA227203 | ABCA4 | c.4535C>G (p.Pro1512Arg) c.911C>G (p.Pro304Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029449G= | CA1140726081 | ABCA4 | c.4535C= (p.Pro1512=) c.911C= (p.Pro304=) | |
1 | g.94029449G>T | CA957584 | ABCA4 | c.4535C>A (p.Pro1512His) c.911C>A (p.Pro304His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029453_94029478del | CA2586966876 | ABCA4 | c.4510_4535del (p.Glu1504ProfsTer?) c.886_911del (p.Glu296ProfsTer?) | |
1 | g.94029450G>A | CA341284771 | ABCA4 | c.4534C>T (p.Pro1512Ser) c.910C>T (p.Pro304Ser) | gnomAD v4 |
1 | g.94029450G>C | CA341284772 | ABCA4 | c.4534C>G (p.Pro1512Ala) c.910C>G (p.Pro304Ala) | |
1 | g.94029450G>T | CA341284770 | ABCA4 | c.4534C>A (p.Pro1512Thr) c.910C>A (p.Pro304Thr) | |
1 | g.94029451G>A | CA957585 | ABCA4 | c.4533C>T (p.Pro1511=) c.909C>T (p.Pro303=) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
1 | g.94029451G>C | CA418824134 | ABCA4 | c.4533C>G (p.Pro1511=) c.909C>G (p.Pro303=) | |
1 | g.94029451G= | CA1181414544 | ABCA4 | c.4533C= (p.Pro1511=) c.909C= (p.Pro303=) | |
1 | g.94029451G>T | CA418824136 | ABCA4 | c.4533C>A (p.Pro1511=) c.909C>A (p.Pro303=) | gnomAD v4 |
1 | g.94029452G>A | CA10611712 | ABCA4 | c.4532C>T (p.Pro1511Leu) c.908C>T (p.Pro303Leu) | ClinVar dbSNP gnomAD v4 |
1 | g.94029452G>C | CA341284773 | ABCA4 | c.4532C>G (p.Pro1511Arg) c.908C>G (p.Pro303Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.94029452G= | CA1181414545 | ABCA4 | c.4532C= (p.Pro1511=) c.908C= (p.Pro303=) | |
1 | g.94029452G>T | CA16617202 | ABCA4 | c.4532C>A (p.Pro1511His) c.908C>A (p.Pro303His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029453G>A | CA341284774 | ABCA4 | c.4531C>T (p.Pro1511Ser) c.907C>T (p.Pro303Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029453G>C | CA341284775 | ABCA4 | c.4531C>G (p.Pro1511Ala) c.907C>G (p.Pro303Ala) | |
1 | g.94029453G= | CA1181414546 | ABCA4 | c.4531C= (p.Pro1511=) c.907C= (p.Pro303=) | |
1 | g.94029453G>T | CA341284776 | ABCA4 | c.4531C>A (p.Pro1511Thr) c.907C>A (p.Pro303Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.94029454C>A | CA418824144 | ABCA4 | c.4530G>T (p.Pro1510=) c.906G>T (p.Pro302=) | gnomAD v4 |
1 | g.94029454C= | CA1181414547 | ABCA4 | c.4530G= (p.Pro1510=) c.906G= (p.Pro302=) | |
1 | g.94029454C>G | CA418824146 | ABCA4 | c.4530G>C (p.Pro1510=) c.906G>C (p.Pro302=) | |
1 | g.94029454C>T | CA957586 | ABCA4 | c.4530G>A (p.Pro1510=) c.906G>A (p.Pro302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029455G>A | CA957587 | ABCA4 | c.4529C>T (p.Pro1510Leu) c.905C>T (p.Pro302Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029455G>C | CA341284777 | ABCA4 | c.4529C>G (p.Pro1510Arg) c.905C>G (p.Pro302Arg) | gnomAD v4 |
1 | g.94029455G= | CA1181414548 | ABCA4 | c.4529C= (p.Pro1510=) c.905C= (p.Pro302=) | |
1 | g.94029455G>T | CA341284778 | ABCA4 | c.4529C>A (p.Pro1510Gln) c.905C>A (p.Pro302Gln) | gnomAD v4 |