Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68444571A>C | CA340747606 | RPE65 | c.455T>G (p.Ile152Ser) c.179T>G (p.Ile60Ser) | |
1 | g.68444571A>G | CA340747609 | RPE65 | c.455T>C (p.Ile152Thr) c.179T>C (p.Ile60Thr) | ClinVar |
1 | g.68444571A>T | CA340747610 | RPE65 | c.455T>A (p.Ile152Asn) c.179T>A (p.Ile60Asn) | |
1 | g.68444572T>A | CA340747613 | RPE65 | c.454A>T (p.Ile152Phe) c.178A>T (p.Ile60Phe) | |
1 | g.68444572T>C | CA340747615 | RPE65 | c.454A>G (p.Ile152Val) c.178A>G (p.Ile60Val) | dbSNP gnomAD v4 |
1 | g.68444572T>G | CA340747618 | RPE65 | c.454A>C (p.Ile152Leu) c.178A>C (p.Ile60Leu) | dbSNP gnomAD v4 |
1 | g.68444572T= | CA1173563395 | RPE65 | c.454A= (p.Ile152=) c.178A= (p.Ile60=) | |
1 | g.68444573A>C | CA340747625 | RPE65 | c.453T>G (p.Phe151Leu) c.177T>G (p.Phe59Leu) | |
1 | g.68444573A>G | CA418282696 | RPE65 | c.453T>C (p.Phe151=) c.177T>C (p.Phe59=) | |
1 | g.68444573A>T | CA340747622 | RPE65 | c.453T>A (p.Phe151Leu) c.177T>A (p.Phe59Leu) | |
1 | g.68444574A>C | CA340747627 | RPE65 | c.452T>G (p.Phe151Cys) c.176T>G (p.Phe59Cys) | |
1 | g.68444574A>G | CA340747630 | RPE65 | c.452T>C (p.Phe151Ser) c.176T>C (p.Phe59Ser) | |
1 | g.68444574A>T | CA340747632 | RPE65 | c.452T>A (p.Phe151Tyr) c.176T>A (p.Phe59Tyr) | gnomAD v4 |
1 | g.68444575A= | CA1173563396 | RPE65 | c.451T= (p.Phe151=) c.175T= (p.Phe59=) | |
1 | g.68444575A>C | CA340747635 | RPE65 | c.451T>G (p.Phe151Val) c.175T>G (p.Phe59Val) | |
1 | g.68444575A>G | CA340747636 | RPE65 | c.451T>C (p.Phe151Leu) c.175T>C (p.Phe59Leu) | dbSNP |
1 | g.68444575A>T | CA340747639 | RPE65 | c.451T>A (p.Phe151Ile) c.175T>A (p.Phe59Ile) | |
1 | g.68444576G>A | CA902505 | RPE65 | c.450C>T (p.Asn150=) c.174C>T (p.Asn58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444576G>C | CA340747645 | RPE65 | c.450C>G (p.Asn150Lys) c.174C>G (p.Asn58Lys) | |
1 | g.68444576G= | CA1143700994 | RPE65 | c.450C= (p.Asn150=) c.174C= (p.Asn58=) | |
1 | g.68444576G>T | CA340747642 | RPE65 | c.450C>A (p.Asn150Lys) c.174C>A (p.Asn58Lys) | gnomAD v4 |
1 | g.68444577T>A | CA340747650 | RPE65 | c.449A>T (p.Asn150Ile) c.173A>T (p.Asn58Ile) | COSMIC |
1 | g.68444577T>C | CA23574788 | RPE65 | c.449A>G (p.Asn150Ser) c.173A>G (p.Asn58Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444577T>G | CA340747654 | RPE65 | c.449A>C (p.Asn150Thr) c.173A>C (p.Asn58Thr) | |
1 | g.68444577T= | CA1173563397 | RPE65 | c.449A= (p.Asn150=) c.173A= (p.Asn58=) | |
1 | g.68444578T>A | CA340747659 | RPE65 | c.448A>T (p.Asn150Tyr) c.172A>T (p.Asn58Tyr) | |
1 | g.68444578T>C | CA340747661 | RPE65 | c.448A>G (p.Asn150Asp) c.172A>G (p.Asn58Asp) | |
1 | g.68444578T>G | CA340747663 | RPE65 | c.448A>C (p.Asn150His) c.172A>C (p.Asn58His) | |
1 | g.68444579G>A | CA418282697 | RPE65 | c.447C>T (p.Thr149=) c.171C>T (p.Thr57=) | ClinVar dbSNP |
1 | g.68444579G>C | CA418282698 | RPE65 | c.447C>G (p.Thr149=) c.171C>G (p.Thr57=) | dbSNP |
1 | g.68444579G= | CA1173563398 | RPE65 | c.447C= (p.Thr149=) c.171C= (p.Thr57=) | |
1 | g.68444579G>T | CA902506 | RPE65 | c.447C>A (p.Thr149=) c.171C>A (p.Thr57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444580G>A | CA340747670 | RPE65 | c.446C>T (p.Thr149Ile) c.170C>T (p.Thr57Ile) | |
1 | g.68444580G>C | CA340747675 | RPE65 | c.446C>G (p.Thr149Ser) c.170C>G (p.Thr57Ser) | |
1 | g.68444580G>T | CA340747672 | RPE65 | c.446C>A (p.Thr149Asn) c.170C>A (p.Thr57Asn) | gnomAD v4 |
1 | g.68444580_68444582delinsGTC | CA1173563399 | RPE65 | c.444_446delinsGAC (p.Glu148=) c.168_170delinsGAC (p.Glu56=) | |
1 | g.68444581T>A | CA340747678 | RPE65 | c.445A>T (p.Thr149Ser) c.169A>T (p.Thr57Ser) | |
1 | g.68444581T>C | CA23574806 | RPE65 | c.445A>G (p.Thr149Ala) c.169A>G (p.Thr57Ala) | dbSNP |
1 | g.68444581T>G | CA340747681 | RPE65 | c.445A>C (p.Thr149Pro) c.169A>C (p.Thr57Pro) | |
1 | g.68444581T= | CA1173563401 | RPE65 | c.445A= (p.Thr149=) c.169A= (p.Thr57=) | |
1 | g.68444584_68444585del | CA1173563400 | RPE65 | c.444_445del (p.Glu148AspfsTer8) c.168_169del (p.Glu56AspfsTer8) | ClinVar dbSNP |
1 | g.68444582C>A | CA226553 | RPE65 | c.444G>T (p.Glu148Asp) c.168G>T (p.Glu56Asp) | ClinVar dbSNP |
1 | g.68444582C= | CA1140725789 | RPE65 | c.444G= (p.Glu148=) c.168G= (p.Glu56=) | |
1 | g.68444582C>G | CA340747683 | RPE65 | c.444G>C (p.Glu148Asp) c.168G>C (p.Glu56Asp) | |
1 | g.68444582C>T | CA418282699 | RPE65 | c.444G>A (p.Glu148=) c.168G>A (p.Glu56=) | |
1 | g.68444583T>A | CA340747686 | RPE65 | c.443A>T (p.Glu148Val) c.167A>T (p.Glu56Val) | |
1 | g.68444583T>C | CA340747687 | RPE65 | c.443A>G (p.Glu148Gly) c.167A>G (p.Glu56Gly) | gnomAD v4 |
1 | g.68444583T>G | CA340747691 | RPE65 | c.443A>C (p.Glu148Ala) c.167A>C (p.Glu56Ala) | |
1 | g.68444584C>A | CA340747693 | RPE65 | c.442G>T (p.Glu148Ter) c.166G>T (p.Glu56Ter) | |
1 | g.68444584C>G | CA340747695 | RPE65 | c.442G>C (p.Glu148Gln) c.166G>C (p.Glu56Gln) | gnomAD v4 |