| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.46853731C>A | CA516370879 | RP2 | c.358C>A (p.Arg120=) | |
| X | g.46853731C= | CA2427731419 | RP2 | c.358C= (p.Arg120=) | |
| X | g.46853731C>G | CA413039392 | RP2 | c.358C>G (p.Arg120Gly) | |
| X | g.46853731C>T | CA255305 | RP2 | c.358C>T (p.Arg120Ter) | ClinVar dbSNP |
| X | g.46853732G>A | CA413039396 | RP2 | c.359G>A (p.Arg120Gln) | |
| X | g.46853732G>C | CA413039398 | RP2 | c.359G>C (p.Arg120Pro) | |
| X | g.46853732G>T | CA413039400 | RP2 | c.359G>T (p.Arg120Leu) | |
| X | g.46853733A>C | CA516370882 | RP2 | c.360A>C (p.Arg120=) | |
| X | g.46853733A>G | CA516370883 | RP2 | c.360A>G (p.Arg120=) | |
| X | g.46853733A>T | CA516370885 | RP2 | c.360A>T (p.Arg120=) | |
| X | g.46853734G>A | CA413039404 | RP2 | c.361G>A (p.Asp121Asn) | |
| X | g.46853734G>C | CA413039406 | RP2 | c.361G>C (p.Asp121His) | |
| X | g.46853734G= | CA2427731420 | RP2 | c.361G= (p.Asp121=) | |
| X | g.46853734G>T | CA329691491 | RP2 | c.361G>T (p.Asp121Tyr) | dbSNP |
| X | g.46853735A>C | CA413039414 | RP2 | c.362A>C (p.Asp121Ala) | |
| X | g.46853735A>G | CA413039410 | RP2 | c.362A>G (p.Asp121Gly) | |
| X | g.46853735A>T | CA413039412 | RP2 | c.362A>T (p.Asp121Val) | |
| X | g.46853735_46853736delinsAT | CA2427731421 | RP2 | c.362_363delinsAT (p.Asp121=) | |
| X | g.46853736T>A | CA413039417 | RP2 | c.363T>A (p.Asp121Glu) | |
| X | g.46853736T>C | CA10394209 | RP2 | c.363T>C (p.Asp121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853736T>G | CA413039421 | RP2 | c.363T>G (p.Asp121Glu) | |
| X | g.46853736T= | CA2427731422 | RP2 | c.363T= (p.Asp121=) | |
| X | g.46853737del | CA915951029 | RP2 | c.364del (p.Cys122ValfsTer?) | ClinVar dbSNP |
| X | g.46853737T>A | CA413039423 | RP2 | c.364T>A (p.Cys122Ser) | |
| X | g.46853737T>C | CA413039426 | RP2 | c.364T>C (p.Cys122Arg) | |
| X | g.46853737T>G | CA413039428 | RP2 | c.364T>G (p.Cys122Gly) | |
| 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 |