Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.93658923del | CA2573145856 | PDE6C | c.2059del (p.Ile687LeufsTer18) | ClinVar dbSNP gnomAD v4 |
10 | g.93658923A= | CA1928721754 | PDE6C | c.2059A= (p.Ile687=) | |
10 | g.93658923A>C | CA377624595 | PDE6C | c.2059A>C (p.Ile687Leu) | gnomAD v4 |
10 | g.93658923A>G | CA377624597 | PDE6C | c.2059A>G (p.Ile687Val) | dbSNP |
10 | g.93658923A>T | CA377624600 | PDE6C | c.2059A>T (p.Ile687Phe) | |
10 | g.93658924T>A | CA377624604 | PDE6C | c.2060T>A (p.Ile687Asn) | |
10 | g.93658924T>C | CA377624608 | PDE6C | c.2060T>C (p.Ile687Thr) | |
10 | g.93658924T>G | CA377624610 | PDE6C | c.2060T>G (p.Ile687Ser) | |
10 | g.93658925T>A | CA470794497 | PDE6C | c.2061T>A (p.Ile687=) | |
10 | g.93658925T>C | CA470794498 | PDE6C | c.2061T>C (p.Ile687=) | |
10 | g.93658925T>G | CA377624612 | PDE6C | c.2061T>G (p.Ile687Met) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.93658925T= | CA1928721755 | PDE6C | c.2061T= (p.Ile687=) | |
10 | g.93658926G>A | CA377624615 | PDE6C | c.2062G>A (p.Val688Ile) | |
10 | g.93658926G>C | CA377624618 | PDE6C | c.2062G>C (p.Val688Leu) | |
10 | g.93658926G>T | CA377624620 | PDE6C | c.2062G>T (p.Val688Phe) | |
10 | g.93658927T>A | CA377624624 | PDE6C | c.2063T>A (p.Val688Asp) | |
10 | g.93658927T>C | CA377624627 | PDE6C | c.2063T>C (p.Val688Ala) | |
10 | g.93658927T>G | CA377624629 | PDE6C | c.2063T>G (p.Val688Gly) | |
10 | g.93658928T>A | CA470794499 | PDE6C | c.2064T>A (p.Val688=) | |
10 | g.93658928T>C | CA470794500 | PDE6C | c.2064T>C (p.Val688=) | gnomAD v4 |
10 | g.93658928T>G | CA470794501 | PDE6C | c.2064T>G (p.Val688=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.93658928T= | CA1928721756 | PDE6C | c.2064T= (p.Val688=) | |
10 | g.93658929G>A | CA377624631 | PDE6C | c.2065G>A (p.Asp689Asn) | |
10 | g.93658929G>C | CA377624636 | PDE6C | c.2065G>C (p.Asp689His) | |
10 | g.93658929G>T | CA377624634 | PDE6C | c.2065G>T (p.Asp689Tyr) | |
10 | g.93658930A>C | CA377624641 | PDE6C | c.2066A>C (p.Asp689Ala) | |
10 | g.93658930A>G | CA377624644 | PDE6C | c.2066A>G (p.Asp689Gly) | |
10 | g.93658930A>T | CA377624646 | PDE6C | c.2066A>T (p.Asp689Val) | |
10 | g.93658931T>A | CA377624651 | PDE6C | c.2067T>A (p.Asp689Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.93658931T>C | CA470794502 | PDE6C | c.2067T>C (p.Asp689=) | gnomAD v4 |
10 | g.93658931T>G | CA377624653 | PDE6C | c.2067T>G (p.Asp689Glu) | |
10 | g.93658931T= | CA1928721757 | PDE6C | c.2067T= (p.Asp689=) | |
10 | g.93658932G>A | CA5610390 | PDE6C | c.2068G>A (p.Ala690Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.93658932G>C | CA377624661 | PDE6C | c.2068G>C (p.Ala690Pro) | |
10 | g.93658932G= | CA1928721758 | PDE6C | c.2068G= (p.Ala690=) | |
10 | g.93658932G>T | CA377624664 | PDE6C | c.2068G>T (p.Ala690Ser) | |
10 | g.93658933C>A | CA377624668 | PDE6C | c.2069C>A (p.Ala690Asp) | |
10 | g.93658933C= | CA1928721759 | PDE6C | c.2069C= (p.Ala690=) | |
10 | g.93658933C>G | CA377624671 | PDE6C | c.2069C>G (p.Ala690Gly) | |
10 | g.93658933C>T | CA5610391 | PDE6C | c.2069C>T (p.Ala690Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.93658934C>A | CA470794505 | PDE6C | c.2070C>A (p.Ala690=) | |
10 | g.93658934C>G | CA470794504 | PDE6C | c.2070C>G (p.Ala690=) | |
10 | g.93658934C>T | CA470794503 | PDE6C | c.2070C>T (p.Ala690=) | |
10 | g.93658935T>A | CA377624679 | PDE6C | c.2071T>A (p.Cys691Ser) | |
10 | g.93658935T>C | CA377624683 | PDE6C | c.2071T>C (p.Cys691Arg) | |
10 | g.93658935T>G | CA377624677 | PDE6C | c.2071T>G (p.Cys691Gly) | |
10 | g.93658936G>A | CA5610392 | PDE6C | c.2072G>A (p.Cys691Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.93658936G>C | CA377624687 | PDE6C | c.2072G>C (p.Cys691Ser) | |
10 | g.93658936G= | CA1928721760 | PDE6C | c.2072G= (p.Cys691=) | |
10 | g.93658936G>T | CA377624688 | PDE6C | c.2072G>T (p.Cys691Phe) |