Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68429835G>A | CA226519 | RPE65 | c.1543C>T (p.Arg515Trp) c.1267C>T (p.Arg423Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429835G>C | CA340741048 | RPE65 | c.1543C>G (p.Arg515Gly) c.1267C>G (p.Arg423Gly) | dbSNP |
1 | g.68429835G= | CA1141580840 | RPE65 | c.1543C= (p.Arg515=) c.1267C= (p.Arg423=) | |
1 | g.68429835G>T | CA418276146 | RPE65 | c.1543C>A (p.Arg515=) c.1267C>A (p.Arg423=) | dbSNP COSMIC |
1 | g.68429837del | CA2646149685 | RPE65 | c.1543del (p.Arg515GlyfsTer?) c.1267del (p.Arg423GlyfsTer?) | gnomAD v4 |
1 | g.68429836G>A | CA418276147 | RPE65 | c.1542C>T (p.Ala514=) c.1266C>T (p.Ala422=) | |
1 | g.68429836G>C | CA418276149 | RPE65 | c.1542C>G (p.Ala514=) c.1266C>G (p.Ala422=) | |
1 | g.68429836G>T | CA418276151 | RPE65 | c.1542C>A (p.Ala514=) c.1266C>A (p.Ala422=) | |
1 | g.68429837G>A | CA340741050 | RPE65 | c.1541C>T (p.Ala514Val) c.1265C>T (p.Ala422Val) | gnomAD v4 |
1 | g.68429837G>C | CA340741052 | RPE65 | c.1541C>G (p.Ala514Gly) c.1265C>G (p.Ala422Gly) | |
1 | g.68429837G>T | CA340741054 | RPE65 | c.1541C>A (p.Ala514Asp) c.1265C>A (p.Ala422Asp) | dbSNP |
1 | g.68429838C>A | CA340741057 | RPE65 | c.1540G>T (p.Ala514Ser) c.1264G>T (p.Ala422Ser) | |
1 | g.68429838C>G | CA340741059 | RPE65 | c.1540G>C (p.Ala514Pro) c.1264G>C (p.Ala422Pro) | |
1 | g.68429838C>T | CA340741061 | RPE65 | c.1540G>A (p.Ala514Thr) c.1264G>A (p.Ala422Thr) | gnomAD v4 |
1 | g.68429839A>C | CA418276157 | RPE65 | c.1539T>G (p.Val513=) c.1263T>G (p.Val421=) | |
1 | g.68429839A>G | CA418276159 | RPE65 | c.1539T>C (p.Val513=) c.1263T>C (p.Val421=) | |
1 | g.68429839A>T | CA418276161 | RPE65 | c.1539T>A (p.Val513=) c.1263T>A (p.Val421=) | gnomAD v4 |
1 | g.68429840A= | CA1173557433 | RPE65 | c.1538T= (p.Val513=) c.1262T= (p.Val421=) | |
1 | g.68429840A>C | CA340741067 | RPE65 | c.1538T>G (p.Val513Gly) c.1262T>G (p.Val421Gly) | |
1 | g.68429840A>G | CA340741065 | RPE65 | c.1538T>C (p.Val513Ala) c.1262T>C (p.Val421Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68429840A>T | CA340741063 | RPE65 | c.1538T>A (p.Val513Asp) c.1262T>A (p.Val421Asp) | |
1 | g.68429841C>A | CA340741069 | RPE65 | c.1537G>T (p.Val513Phe) c.1261G>T (p.Val421Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68429841C= | CA1173557434 | RPE65 | c.1537G= (p.Val513=) c.1261G= (p.Val421=) | |
1 | g.68429841C>G | CA340741071 | RPE65 | c.1537G>C (p.Val513Leu) c.1261G>C (p.Val421Leu) | |
1 | g.68429841C>T | CA340741073 | RPE65 | c.1537G>A (p.Val513Ile) c.1261G>A (p.Val421Ile) | |
1 | g.68429842T>A | CA340741076 | RPE65 | c.1536A>T (p.Glu512Asp) c.1260A>T (p.Glu420Asp) | |
1 | g.68429842T>C | CA418276167 | RPE65 | c.1536A>G (p.Glu512=) c.1260A>G (p.Glu420=) | |
1 | g.68429842T>G | CA340741078 | RPE65 | c.1536A>C (p.Glu512Asp) c.1260A>C (p.Glu420Asp) | |
1 | g.68429843T>A | CA340741080 | RPE65 | c.1535A>T (p.Glu512Val) c.1259A>T (p.Glu420Val) | |
1 | g.68429843T>C | CA340741082 | RPE65 | c.1535A>G (p.Glu512Gly) c.1259A>G (p.Glu420Gly) | gnomAD v4 |
1 | g.68429843T>G | CA340741083 | RPE65 | c.1535A>C (p.Glu512Ala) c.1259A>C (p.Glu420Ala) | |
1 | g.68429844C>A | CA340741086 | RPE65 | c.1534G>T (p.Glu512Ter) c.1258G>T (p.Glu420Ter) | COSMIC |
1 | g.68429844C= | CA1173557435 | RPE65 | c.1534G= (p.Glu512=) c.1258G= (p.Glu420=) | |
1 | g.68429844C>G | CA340741087 | RPE65 | c.1534G>C (p.Glu512Gln) c.1258G>C (p.Glu420Gln) | |
1 | g.68429844C>T | CA902135 | RPE65 | c.1534G>A (p.Glu512Lys) c.1258G>A (p.Glu420Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68429845A= | CA1143167365 | RPE65 | c.1533T= (p.Ser511=) c.1257T= (p.Ser419=) | |
1 | g.68429845A>C | CA902136 | RPE65 | c.1533T>G (p.Ser511Arg) c.1257T>G (p.Ser419Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429845A>G | CA418276175 | RPE65 | c.1533T>C (p.Ser511=) c.1257T>C (p.Ser419=) | |
1 | g.68429845A>T | CA340741091 | RPE65 | c.1533T>A (p.Ser511Arg) c.1257T>A (p.Ser419Arg) | |
1 | g.68429846C>A | CA340741095 | RPE65 | c.1532G>T (p.Ser511Ile) c.1256G>T (p.Ser419Ile) | |
1 | g.68429846C= | CA1173557436 | RPE65 | c.1532G= (p.Ser511=) c.1256G= (p.Ser419=) | |
1 | g.68429846C>G | CA340741097 | RPE65 | c.1532G>C (p.Ser511Thr) c.1256G>C (p.Ser419Thr) | dbSNP gnomAD v4 |
1 | g.68429846C>T | CA340741093 | RPE65 | c.1532G>A (p.Ser511Asn) c.1256G>A (p.Ser419Asn) | ClinVar dbSNP |
1 | g.68429847T>A | CA340741103 | RPE65 | c.1531A>T (p.Ser511Cys) c.1255A>T (p.Ser419Cys) | |
1 | g.68429847T>C | CA340741099 | RPE65 | c.1531A>G (p.Ser511Gly) c.1255A>G (p.Ser419Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68429847T>G | CA340741100 | RPE65 | c.1531A>C (p.Ser511Arg) c.1255A>C (p.Ser419Arg) | |
1 | g.68429847T= | CA1173557437 | RPE65 | c.1531A= (p.Ser511=) c.1255A= (p.Ser419=) | |
1 | g.68429848T>A | CA340741105 | RPE65 | c.1530A>T (p.Leu510Phe) c.1254A>T (p.Leu418Phe) | |
1 | g.68429848T>C | CA418276183 | RPE65 | c.1530A>G (p.Leu510=) c.1254A>G (p.Leu418=) | |
1 | g.68429848T>G | CA340741106 | RPE65 | c.1530A>C (p.Leu510Phe) c.1254A>C (p.Leu418Phe) |