Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.46853738G>A | CA413039431 | RP2 | c.365G>A (p.Cys122Tyr) | ClinVar dbSNP |
X | g.46853738G>C | CA413039433 | RP2 | c.365G>C (p.Cys122Ser) | |
X | g.46853738G= | CA2427731423 | RP2 | c.365G= (p.Cys122=) | |
X | g.46853738G>T | CA413039436 | RP2 | c.365G>T (p.Cys122Phe) | |
X | g.46853739T>A | CA413039438 | RP2 | c.366T>A (p.Cys122Ter) | |
X | g.46853739T>C | CA516370902 | RP2 | c.366T>C (p.Cys122=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.46853739T>G | CA413039440 | RP2 | c.366T>G (p.Cys122Trp) | |
X | g.46853739T= | CA2427731424 | RP2 | c.366T= (p.Cys122=) | |
X | g.46853740A>C | CA516370905 | RP2 | c.367A>C (p.Arg123=) | |
X | g.46853740A>G | CA413039446 | RP2 | c.367A>G (p.Arg123Gly) | gnomAD v4 |
X | g.46853740A>T | CA413039444 | RP2 | c.367A>T (p.Arg123Ter) | |
X | g.46853741G>A | CA413039448 | RP2 | c.368G>A (p.Arg123Lys) | |
X | g.46853741G>C | CA413039451 | RP2 | c.368G>C (p.Arg123Thr) | |
X | g.46853741G>T | CA413039453 | RP2 | c.368G>T (p.Arg123Ile) | |
X | g.46853742A>C | CA413039456 | RP2 | c.369A>C (p.Arg123Ser) | |
X | g.46853742A>G | CA516370910 | RP2 | c.369A>G (p.Arg123=) | |
X | g.46853742A>T | CA413039458 | RP2 | c.369A>T (p.Arg123Ser) | |
X | g.46853743A>C | CA413039462 | RP2 | c.370A>C (p.Lys124Gln) | |
X | g.46853743A>G | CA413039463 | RP2 | c.370A>G (p.Lys124Glu) | |
X | g.46853743A>T | CA413039466 | RP2 | c.370A>T (p.Lys124Ter) | |
X | g.46853744A>C | CA413039468 | RP2 | c.371A>C (p.Lys124Thr) | gnomAD v4 |
X | g.46853744A>G | CA413039471 | RP2 | c.371A>G (p.Lys124Arg) | |
X | g.46853744A>T | CA413039473 | RP2 | c.371A>T (p.Lys124Met) | |
X | g.46853745G>A | CA516370923 | RP2 | c.372G>A (p.Lys124=) | dbSNP |
X | g.46853745G>C | CA413039475 | RP2 | c.372G>C (p.Lys124Asn) | |
X | g.46853745G= | CA2427731425 | RP2 | c.372G= (p.Lys124=) | |
X | g.46853745G>T | CA413039477 | RP2 | c.372G>T (p.Lys124Asn) | |
X | g.46853746C>A | CA413039483 | RP2 | c.373C>A (p.Leu125Met) | |
X | g.46853746C>G | CA413039480 | RP2 | c.373C>G (p.Leu125Val) | |
X | g.46853746C>T | CA516370924 | RP2 | c.373C>T (p.Leu125=) | |
X | g.46853747T>A | CA413039486 | RP2 | c.374T>A (p.Leu125Gln) | |
X | g.46853747T>C | CA413039488 | RP2 | c.374T>C (p.Leu125Pro) | |
X | g.46853747T>G | CA413039490 | RP2 | c.374T>G (p.Leu125Arg) | |
X | g.46853748G>A | CA516370926 | RP2 | c.375G>A (p.Leu125=) | gnomAD v4 |
X | g.46853748G>C | CA516370928 | RP2 | c.375G>C (p.Leu125=) | |
X | g.46853748G>T | CA516370930 | RP2 | c.375G>T (p.Leu125=) | |
X | g.46853749G>A | CA413039493 | RP2 | c.376G>A (p.Glu126Lys) | |
X | g.46853749G>C | CA413039495 | RP2 | c.376G>C (p.Glu126Gln) | |
X | g.46853749G>T | CA413039497 | RP2 | c.376G>T (p.Glu126Ter) | |
X | g.46853750A>C | CA413039500 | RP2 | c.377A>C (p.Glu126Ala) | |
X | g.46853750A>G | CA413039502 | RP2 | c.377A>G (p.Glu126Gly) | |
X | g.46853750A>T | CA413039504 | RP2 | c.377A>T (p.Glu126Val) | |
X | g.46853751A>C | CA413039507 | RP2 | c.378A>C (p.Glu126Asp) | gnomAD v4 |
X | g.46853751A>G | CA516370936 | RP2 | c.378A>G (p.Glu126=) | |
X | g.46853751A>T | CA413039509 | RP2 | c.378A>T (p.Glu126Asp) | |
X | g.46853752G>A | CA413039512 | RP2 | c.379G>A (p.Val127Ile) | |
X | g.46853752G>C | CA413039514 | RP2 | c.379G>C (p.Val127Leu) | |
X | g.46853752G>T | CA413039517 | RP2 | c.379G>T (p.Val127Phe) | |
X | g.46853753T>A | CA413039522 | RP2 | c.380T>A (p.Val127Asp) | |
X | g.46853753T>C | CA413039524 | RP2 | c.380T>C (p.Val127Ala) |