Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68429827T>A | CA340741011 | RPE65 | c.1551A>T (p.Glu517Asp) c.1275A>T (p.Glu425Asp) | |
1 | g.68429827T>C | CA418276122 | RPE65 | c.1551A>G (p.Glu517=) c.1275A>G (p.Glu425=) | |
1 | g.68429827T>G | CA340741013 | RPE65 | c.1551A>C (p.Glu517Asp) c.1275A>C (p.Glu425Asp) | |
1 | g.68429828T>A | CA340741016 | RPE65 | c.1550A>T (p.Glu517Val) c.1274A>T (p.Glu425Val) | |
1 | g.68429828T>C | CA340741017 | RPE65 | c.1550A>G (p.Glu517Gly) c.1274A>G (p.Glu425Gly) | |
1 | g.68429828T>G | CA340741020 | RPE65 | c.1550A>C (p.Glu517Ala) c.1274A>C (p.Glu425Ala) | |
1 | g.68429829C>A | CA340741025 | RPE65 | c.1549G>T (p.Glu517Ter) c.1273G>T (p.Glu425Ter) | COSMIC |
1 | g.68429829C>G | CA340741027 | RPE65 | c.1549G>C (p.Glu517Gln) c.1273G>C (p.Glu425Gln) | |
1 | g.68429829C>T | CA340741028 | RPE65 | c.1549G>A (p.Glu517Lys) c.1273G>A (p.Glu425Lys) | |
1 | g.68429830A= | CA1145672067 | RPE65 | c.1548T= (p.Ala516=) c.1272T= (p.Ala424=) | |
1 | g.68429830A>C | CA418276129 | RPE65 | c.1548T>G (p.Ala516=) c.1272T>G (p.Ala424=) | |
1 | g.68429830A>G | CA902133 | RPE65 | c.1548T>C (p.Ala516=) c.1272T>C (p.Ala424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429830A>T | CA418276131 | RPE65 | c.1548T>A (p.Ala516=) c.1272T>A (p.Ala424=) | gnomAD v4 |
1 | g.68429831G>A | CA340741030 | RPE65 | c.1547C>T (p.Ala516Val) c.1271C>T (p.Ala424Val) | |
1 | g.68429831G>C | CA340741032 | RPE65 | c.1547C>G (p.Ala516Gly) c.1271C>G (p.Ala424Gly) | |
1 | g.68429831G>T | CA340741034 | RPE65 | c.1547C>A (p.Ala516Asp) c.1271C>A (p.Ala424Asp) | |
1 | g.68429832C>A | CA340741041 | RPE65 | c.1546G>T (p.Ala516Ser) c.1270G>T (p.Ala424Ser) | |
1 | g.68429832C>G | CA340741039 | RPE65 | c.1546G>C (p.Ala516Pro) c.1270G>C (p.Ala424Pro) | |
1 | g.68429832C>T | CA340741037 | RPE65 | c.1546G>A (p.Ala516Thr) c.1270G>A (p.Ala424Thr) | |
1 | g.68429833C>A | CA418276138 | RPE65 | c.1545G>T (p.Arg515=) c.1269G>T (p.Arg423=) | |
1 | g.68429833C>G | CA418276140 | RPE65 | c.1545G>C (p.Arg515=) c.1269G>C (p.Arg423=) | |
1 | g.68429833C>T | CA418276137 | RPE65 | c.1545G>A (p.Arg515=) c.1269G>A (p.Arg423=) | ClinVar dbSNP |
1 | g.68429834C>A | CA340741043 | RPE65 | c.1544G>T (p.Arg515Leu) c.1268G>T (p.Arg423Leu) | |
1 | g.68429834C= | CA1146727845 | RPE65 | c.1544G= (p.Arg515=) c.1268G= (p.Arg423=) | |
1 | g.68429834C>G | CA340741044 | RPE65 | c.1544G>C (p.Arg515Pro) c.1268G>C (p.Arg423Pro) | |
1 | g.68429834C>T | CA902134 | RPE65 | c.1544G>A (p.Arg515Gln) c.1268G>A (p.Arg423Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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) |