Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68444696A= | CA1173563442 | RPE65 | c.354-24T= (n.354-24T=) c.78-24T= (n.78-24T=) | |
1 | g.68444696A>T | CA523301924 | RPE65 | c.354-24T>A (n.354-24T>A) c.78-24T>A (n.78-24T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444698T>A | CA523301925 | RPE65 | c.354-26A>T (n.354-26A>T) c.78-26A>T (n.78-26A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444698T>C | CA1002832864 | RPE65 | c.354-26A>G (n.354-26A>G) c.78-26A>G (n.78-26A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444698T= | CA1173563443 | RPE65 | c.354-26A= (n.354-26A=) c.78-26A= (n.78-26A=) | |
1 | g.68444699C>T | CA2646150350 | RPE65 | c.354-27G>A (n.354-27G>A) c.78-27G>A (n.78-27G>A) | gnomAD v4 |
1 | g.68444700C>A | CA2574402991 | RPE65 | c.354-28G>T (n.354-28G>T) c.78-28G>T (n.78-28G>T) | |
1 | g.68444701A>G | CA2512644505 | RPE65 | c.354-29T>C (n.354-29T>C) c.78-29T>C (n.78-29T>C) | |
1 | g.68444702G>A | CA2646150351 | RPE65 | c.354-30C>T (n.354-30C>T) c.78-30C>T (n.78-30C>T) | gnomAD v4 |
1 | g.68444704A>G | CA2646150353 | RPE65 | c.354-32T>C (n.354-32T>C) c.78-32T>C (n.78-32T>C) | gnomAD v4 |
1 | g.68444705del | CA2646150352 | RPE65 | c.354-32del (n.354-32del) c.78-32del (n.78-32del) | gnomAD v4 |
1 | g.68444706T>A | CA2519961037 | RPE65 | c.354-34A>T (n.354-34A>T) c.78-34A>T (n.78-34A>T) | |
1 | g.68444706T>C | CA2574402992 | RPE65 | c.354-34A>G (n.354-34A>G) c.78-34A>G (n.78-34A>G) | |
1 | g.68444709_68444710del | CA2744001087 | RPE65 | c.354-38_354-37del (n.354-38_354-37del) c.78-38_78-37del (n.78-38_78-37del) | |
1 | g.68444710C>A | CA902525 | RPE65 | c.354-38G>T (n.354-38G>T) c.78-38G>T (n.78-38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444710C= | CA1173563444 | RPE65 | c.354-38G= (n.354-38G=) c.78-38G= (n.78-38G=) | |
1 | g.68444711_68444712insGT | CA2744001088 | RPE65 | c.354-40_354-39insAC (n.354-40_354-39insAC) c.78-40_78-39insAC (n.78-40_78-39insAC) | |
1 | g.68444712A= | CA1173563445 | RPE65 | c.354-40T= (n.354-40T=) c.78-40T= (n.78-40T=) | |
1 | g.68444712A>G | CA902526 | RPE65 | c.354-40T>C (n.354-40T>C) c.78-40T>C (n.78-40T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444712A>T | CA2695825742 | RPE65 | c.354-40T>A (n.354-40T>A) c.78-40T>A (n.78-40T>A) | dbSNP |
1 | g.68444713G>T | CA2574402993 | RPE65 | c.354-41C>A (n.354-41C>A) c.78-41C>A (n.78-41C>A) | |
1 | g.68444714_68444715insAGA | CA2744001089 | RPE65 | c.354-43_354-42insTCT (n.354-43_354-42insTCT) c.78-43_78-42insTCT (n.78-43_78-42insTCT) | |
1 | g.68444715C= | CA1147078148 | RPE65 | c.354-43G= (n.354-43G=) c.78-43G= (n.78-43G=) | |
1 | g.68444715C>T | CA902527 | RPE65 | c.354-43G>A (n.354-43G>A) c.78-43G>A (n.78-43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444717T>G | CA2599702966 | RPE65 | c.354-45A>C (n.354-45A>C) c.78-45A>C (n.78-45A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444718G>A | CA2599702968 | RPE65 | c.354-46C>T (n.354-46C>T) c.78-46C>T (n.78-46C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444718G>T | CA2646150354 | RPE65 | c.354-46C>A (n.354-46C>A) c.78-46C>A (n.78-46C>A) | gnomAD v4 |
1 | g.68444718_68444720del | CA2744001090 | RPE65 | c.354-48_354-46del (n.354-48_354-46del) c.78-48_78-46del (n.78-48_78-46del) | |
1 | g.68444719_68444720delinsAG | CA1173563446 | RPE65 | c.354-48_354-47delinsCT (n.354-48_354-47delinsCT) c.78-48_78-47delinsCT (n.78-48_78-47delinsCT) | |
1 | g.68444720del | CA902528 | RPE65 | c.354-48del (n.354-48del) c.78-48del (n.78-48del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444720G>A | CA1173563448 | RPE65 | c.354-48C>T (n.354-48C>T) c.78-48C>T (n.78-48C>T) | dbSNP |
1 | g.68444720G= | CA1173563447 | RPE65 | c.354-48C= (n.354-48C=) c.78-48C= (n.78-48C=) | |
1 | g.68444722del | CA2646150357 | RPE65 | c.354-50del (n.354-50del) c.78-50del (n.78-50del) | gnomAD v4 |
1 | g.68444722G>C | CA902529 | RPE65 | c.354-50C>G (n.354-50C>G) c.78-50C>G (n.78-50C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444722G= | CA1173563449 | RPE65 | c.354-50C= (n.354-50C=) c.78-50C= (n.78-50C=) | |
1 | g.68444722G>T | CA2646150356 | RPE65 | c.354-50C>A (n.354-50C>A) c.78-50C>A (n.78-50C>A) | gnomAD v4 |
1 | g.68444725A= | CA1141337296 | RPE65 | c.353+51T= (n.353+51T=) c.77+51T= (n.77+51T=) | |
1 | g.68444725A>G | CA902530 | RPE65 | c.353+51T>C (n.353+51T>C) c.77+51T>C (n.77+51T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444727A= | CA1173563450 | RPE65 | c.353+49T= (n.353+49T=) c.77+49T= (n.77+49T=) | |
1 | g.68444727A>G | CA902531 | RPE65 | c.353+49T>C (n.353+49T>C) c.77+49T>C (n.77+49T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444728G>A | CA902532 | RPE65 | c.353+48C>T (n.353+48C>T) c.77+48C>T (n.77+48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444728G>C | CA2553994718 | RPE65 | c.353+48C>G (n.353+48C>G) c.77+48C>G (n.77+48C>G) | gnomAD v4 |
1 | g.68444728G= | CA1173563451 | RPE65 | c.353+48C= (n.353+48C=) c.77+48C= (n.77+48C=) | |
1 | g.68444728G>T | CA2574402994 | RPE65 | c.353+48C>A (n.353+48C>A) c.77+48C>A (n.77+48C>A) | |
1 | g.68444729G>A | CA902533 | RPE65 | c.353+47C>T (n.353+47C>T) c.77+47C>T (n.77+47C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444729G= | CA1173563452 | RPE65 | c.353+47C= (n.353+47C=) c.77+47C= (n.77+47C=) | |
1 | g.68444731C>A | CA1173563454 | RPE65 | c.353+45G>T (n.353+45G>T) c.77+45G>T (n.77+45G>T) | dbSNP gnomAD v4 |
1 | g.68444731C= | CA1173563453 | RPE65 | c.353+45G= (n.353+45G=) c.77+45G= (n.77+45G=) | |
1 | g.68444731C>T | CA2646150363 | RPE65 | c.353+45G>A (n.353+45G>A) c.77+45G>A (n.77+45G>A) | gnomAD v4 |
1 | g.68444733A>C | CA2646150364 | RPE65 | c.353+43T>G (n.353+43T>G) c.77+43T>G (n.77+43T>G) | gnomAD v4 |
1 | g.68444735T>A | CA523301930 | RPE65 | c.353+41A>T (n.353+41A>T) c.77+41A>T (n.77+41A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444735T>C | CA902534 | RPE65 | c.353+41A>G (n.353+41A>G) c.77+41A>G (n.77+41A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444735T= | CA1149042869 | RPE65 | c.353+41A= (n.353+41A=) c.77+41A= (n.77+41A=) | |
1 | g.68444736A>G | CA2525669217 | RPE65 | c.353+40T>C (n.353+40T>C) c.77+40T>C (n.77+40T>C) | |
1 | g.68444736A>T | CA2744001091 | RPE65 | c.353+40T>A (n.353+40T>A) c.77+40T>A (n.77+40T>A) | |
1 | g.68444737T>A | CA523301933 | RPE65 | c.353+39A>T (n.353+39A>T) c.77+39A>T (n.77+39A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444737T>C | CA2646150366 | RPE65 | c.353+39A>G (n.353+39A>G) c.77+39A>G (n.77+39A>G) | dbSNP gnomAD v4 |
1 | g.68444737T= | CA1173563455 | RPE65 | c.353+39A= (n.353+39A=) c.77+39A= (n.77+39A=) | |
1 | g.68444738A= | CA1173563456 | RPE65 | c.353+38T= (n.353+38T=) c.77+38T= (n.77+38T=) | |
1 | g.68444738A>G | CA1173563457 | RPE65 | c.353+38T>C (n.353+38T>C) c.77+38T>C (n.77+38T>C) | dbSNP gnomAD v4 |
1 | g.68444739_68444740insT | CA2646150368 | RPE65 | c.353+36_353+37insA (n.353+36_353+37insA) c.77+36_77+37insA (n.77+36_77+37insA) | gnomAD v4 |
1 | g.68444741A= | CA1143886788 | RPE65 | c.353+35T= (n.353+35T=) c.77+35T= (n.77+35T=) | |
1 | g.68444741A>G | CA902535 | RPE65 | c.353+35T>C (n.353+35T>C) c.77+35T>C (n.77+35T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444743G>A | CA902536 | RPE65 | c.353+33C>T (n.353+33C>T) c.77+33C>T (n.77+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444743G= | CA1173563458 | RPE65 | c.353+33C= (n.353+33C=) c.77+33C= (n.77+33C=) | |
1 | g.68444744T>C | CA2646150373 | RPE65 | c.353+32A>G (n.353+32A>G) c.77+32A>G (n.77+32A>G) | gnomAD v4 |
1 | g.68444745C= | CA1173563459 | RPE65 | c.353+31G= (n.353+31G=) c.77+31G= (n.77+31G=) | |
1 | g.68444745C>G | CA1173563460 | RPE65 | c.353+31G>C (n.353+31G>C) c.77+31G>C (n.77+31G>C) | dbSNP |
1 | g.68444746T>G | CA902537 | RPE65 | c.353+30A>C (n.353+30A>C) c.77+30A>C (n.77+30A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444746T= | CA1145671052 | RPE65 | c.353+30A= (n.353+30A=) c.77+30A= (n.77+30A=) | |
1 | g.68444748G>C | CA902538 | RPE65 | c.353+28C>G (n.353+28C>G) c.77+28C>G (n.77+28C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444748G= | CA1173563461 | RPE65 | c.353+28C= (n.353+28C=) c.77+28C= (n.77+28C=) | |
1 | g.68444748G>T | CA2525120166 | RPE65 | c.353+28C>A (n.353+28C>A) c.77+28C>A (n.77+28C>A) | |
1 | g.68444750G>A | CA523301937 | RPE65 | c.353+26C>T (n.353+26C>T) c.77+26C>T (n.77+26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444750G= | CA1173563462 | RPE65 | c.353+26C= (n.353+26C=) c.77+26C= (n.77+26C=) | |
1 | g.68444751_68444754dup | CA2646150376 | RPE65 | c.353+22_353+25dup (n.353+22_353+25dup) c.77+22_77+25dup (n.77+22_77+25dup) | gnomAD v4 |
1 | g.68444755A>G | CA2547903023 | RPE65 | c.353+21T>C (n.353+21T>C) c.77+21T>C (n.77+21T>C) | gnomAD v4 |
1 | g.68444756T>A | CA1173563464 | RPE65 | c.353+20A>T (n.353+20A>T) c.77+20A>T (n.77+20A>T) | ClinVar dbSNP |
1 | g.68444756T= | CA1173563463 | RPE65 | c.353+20A= (n.353+20A=) c.77+20A= (n.77+20A=) | |
1 | g.68444757T>G | CA2531867706 | RPE65 | c.353+19A>C (n.353+19A>C) c.77+19A>C (n.77+19A>C) | |
1 | g.68444759A>T | CA2646150377 | RPE65 | c.353+17T>A (n.353+17T>A) c.77+17T>A (n.77+17T>A) | gnomAD v4 |
1 | g.68444761T>C | CA2646150378 | RPE65 | c.353+15A>G (n.353+15A>G) c.77+15A>G (n.77+15A>G) | ClinVar gnomAD v4 |
1 | g.68444762T>G | CA2740090759 | RPE65 | c.353+14A>C (n.353+14A>C) c.77+14A>C (n.77+14A>C) | ClinVar |
1 | g.68444763T>C | CA2574402995 | RPE65 | c.353+13A>G (n.353+13A>G) c.77+13A>G (n.77+13A>G) | gnomAD v4 |
1 | g.68444763T>G | CA2574402996 | RPE65 | c.353+13A>C (n.353+13A>C) c.77+13A>C (n.77+13A>C) | |
1 | g.68444763_68444764del | CA2542605472 | RPE65 | c.353+12_353+13del (n.353+12_353+13del) c.77+12_77+13del (n.77+12_77+13del) | |
1 | g.68444764G>A | CA2646150379 | RPE65 | c.353+12C>T (n.353+12C>T) c.77+12C>T (n.77+12C>T) | gnomAD v4 |
1 | g.68444764G>T | CA2574402997 | RPE65 | c.353+12C>A (n.353+12C>A) c.77+12C>A (n.77+12C>A) | |
1 | g.68444765G>C | CA2646150380 | RPE65 | c.353+11C>G (n.353+11C>G) c.77+11C>G (n.77+11C>G) | ClinVar gnomAD v4 |
1 | g.68444766G>A | CA2573131985 | RPE65 | c.353+10C>T (n.353+10C>T) c.77+10C>T (n.77+10C>T) | ClinVar dbSNP |
1 | g.68444766G>T | CA2574402998 | RPE65 | c.353+10C>A (n.353+10C>A) c.77+10C>A (n.77+10C>A) | |
1 | g.68444766_68444767insAT | CA2561780455 | RPE65 | c.353+9_353+10insAT (n.353+9_353+10insAT) c.77+9_77+10insAT (n.77+9_77+10insAT) | |
1 | g.68444768T>C | CA1173563466 | RPE65 | c.353+8A>G (n.353+8A>G) c.77+8A>G (n.77+8A>G) | ClinVar dbSNP |
1 | g.68444768T>G | CA2646150381 | RPE65 | c.353+8A>C (n.353+8A>C) c.77+8A>C (n.77+8A>C) | ClinVar gnomAD v4 |
1 | g.68444768T= | CA1173563465 | RPE65 | c.353+8A= (n.353+8A=) c.77+8A= (n.77+8A=) | |
1 | g.68444769C>A | CA2646150383 | RPE65 | c.353+7G>T (n.353+7G>T) c.77+7G>T (n.77+7G>T) | gnomAD v4 |
1 | g.68444769C= | CA1173563467 | RPE65 | c.353+7G= (n.353+7G=) c.77+7G= (n.77+7G=) | |
1 | g.68444769C>T | CA902539 | RPE65 | c.353+7G>A (n.353+7G>A) c.77+7G>A (n.77+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444770A= | CA1148471687 | RPE65 | c.353+6T= (n.353+6T=) c.77+6T= (n.77+6T=) | |
1 | g.68444770A>G | CA902540 | RPE65 | c.353+6T>C (n.353+6T>C) c.77+6T>C (n.77+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444771G>A | CA2646150390 | RPE65 | c.353+5C>T (n.353+5C>T) c.77+5C>T (n.77+5C>T) | gnomAD v4 |
1 | g.68444771G= | CA1173563468 | RPE65 | c.353+5C= (n.353+5C=) c.77+5C= (n.77+5C=) | |
1 | g.68444771G>T | CA902541 | RPE65 | c.353+5C>A (n.353+5C>A) c.77+5C>A (n.77+5C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444772T>A | CA1173563470 | RPE65 | c.353+4A>T (n.353+4A>T) c.77+4A>T (n.77+4A>T) | ClinVar dbSNP gnomAD v4 |
1 | g.68444772T>C | CA523301939 | RPE65 | c.353+4A>G (n.353+4A>G) c.77+4A>G (n.77+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444772T= | CA1173563469 | RPE65 | c.353+4A= (n.353+4A=) c.77+4A= (n.77+4A=) | |
1 | g.68444773A>G | CA2586966746 | RPE65 | c.353+3T>C (n.353+3T>C) c.77+3T>C (n.77+3T>C) | |
1 | g.68444774A= | CA1173563471 | RPE65 | c.353+2T= (n.353+2T=) c.77+2T= (n.77+2T=) | |
1 | g.68444774A>C | CA340748066 | RPE65 | c.353+2T>G (n.353+2T>G) c.77+2T>G (n.77+2T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444774A>G | CA340748068 | RPE65 | c.353+2T>C (n.353+2T>C) c.77+2T>C (n.77+2T>C) | |
1 | g.68444774A>T | CA340748070 | RPE65 | c.353+2T>A (n.353+2T>A) c.77+2T>A (n.77+2T>A) | |
1 | g.68444775C>A | CA226544 | RPE65 | c.353+1G>T (n.353+1G>T) c.77+1G>T (n.77+1G>T) | ClinVar dbSNP |
1 | g.68444775C= | CA1140725793 | RPE65 | c.353+1G= (n.353+1G=) c.77+1G= (n.77+1G=) | |
1 | g.68444775C>G | CA340748073 | RPE65 | c.353+1G>C (n.353+1G>C) c.77+1G>C (n.77+1G>C) | |
1 | g.68444775C>T | CA340748075 | RPE65 | c.353+1G>A (n.353+1G>A) c.77+1G>A (n.77+1G>A) | ClinVar |
1 | g.68444776C>A | CA340748081 | RPE65 | c.353G>T (p.Arg118Met) c.77G>T (p.Arg26Met) | |
1 | g.68444776C= | CA1173563472 | RPE65 | c.353G= (p.Arg118=) c.77G= (p.Arg26=) | |
1 | g.68444776C>G | CA340748077 | RPE65 | c.353G>C (p.Arg118Thr) c.77G>C (p.Arg26Thr) | |
1 | g.68444776C>T | CA340748079 | RPE65 | c.353G>A (p.Arg118Lys) c.77G>A (p.Arg26Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444777T>A | CA340748082 | RPE65 | c.352A>T (p.Arg118Trp) c.76A>T (p.Arg26Trp) | |
1 | g.68444777T>C | CA340748084 | RPE65 | c.352A>G (p.Arg118Gly) c.76A>G (p.Arg26Gly) | |
1 | g.68444777T>G | CA418282894 | RPE65 | c.352A>C (p.Arg118=) c.76A>C (p.Arg26=) | |
1 | g.68444778G>A | CA418282896 | RPE65 | c.351C>T (p.Ser117=) c.75C>T (p.Ser25=) | |
1 | g.68444778G>C | CA418282898 | RPE65 | c.351C>G (p.Ser117=) c.75C>G (p.Ser25=) | |
1 | g.68444778G>T | CA418282899 | RPE65 | c.351C>A (p.Ser117=) c.75C>A (p.Ser25=) | |
1 | g.68444779G>A | CA340748086 | RPE65 | c.350C>T (p.Ser117Phe) c.74C>T (p.Ser25Phe) | ClinVar dbSNP |
1 | g.68444779G>C | CA340748088 | RPE65 | c.350C>G (p.Ser117Cys) c.74C>G (p.Ser25Cys) | |
1 | g.68444779G>T | CA340748090 | RPE65 | c.350C>A (p.Ser117Tyr) c.74C>A (p.Ser25Tyr) | |
1 | g.68444780A>C | CA340748092 | RPE65 | c.349T>G (p.Ser117Ala) c.73T>G (p.Ser25Ala) | |
1 | g.68444780A>G | CA340748093 | RPE65 | c.349T>C (p.Ser117Pro) c.73T>C (p.Ser25Pro) | gnomAD v4 |
1 | g.68444780A>T | CA340748096 | RPE65 | c.349T>A (p.Ser117Thr) c.73T>A (p.Ser25Thr) | |
1 | g.68444783del | CA2543706020 | RPE65 | c.349del (p.Ser117ProfsTer10) c.73del (p.Ser25ProfsTer10) | |
1 | g.68444781A= | CA1173563473 | RPE65 | c.348T= (p.Phe116=) c.72T= (p.Phe24=) | |
1 | g.68444781A>C | CA340748098 | RPE65 | c.348T>G (p.Phe116Leu) c.72T>G (p.Phe24Leu) | |
1 | g.68444781A>G | CA23575223 | RPE65 | c.348T>C (p.Phe116=) c.72T>C (p.Phe24=) | dbSNP gnomAD v4 |
1 | g.68444781A>T | CA340748100 | RPE65 | c.348T>A (p.Phe116Leu) c.72T>A (p.Phe24Leu) | |
1 | g.68444782A>C | CA340748104 | RPE65 | c.347T>G (p.Phe116Cys) c.71T>G (p.Phe24Cys) | |
1 | g.68444782A>G | CA340748106 | RPE65 | c.347T>C (p.Phe116Ser) c.71T>C (p.Phe24Ser) | |
1 | g.68444782A>T | CA340748103 | RPE65 | c.347T>A (p.Phe116Tyr) c.71T>A (p.Phe24Tyr) | |
1 | g.68444783A= | CA1173563474 | RPE65 | c.346T= (p.Phe116=) c.70T= (p.Phe24=) | |
1 | g.68444783A>C | CA340748108 | RPE65 | c.346T>G (p.Phe116Val) c.70T>G (p.Phe24Val) | |
1 | g.68444783A>G | CA340748110 | RPE65 | c.346T>C (p.Phe116Leu) c.70T>C (p.Phe24Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444783A>T | CA340748112 | RPE65 | c.346T>A (p.Phe116Ile) c.70T>A (p.Phe24Ile) | |
1 | g.68444784T>A | CA418282914 | RPE65 | c.345A>T (p.Ile115=) c.69A>T (p.Ile23=) | dbSNP |
1 | g.68444784T>C | CA340748114 | RPE65 | c.345A>G (p.Ile115Met) c.69A>G (p.Ile23Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444784T>G | CA418282916 | RPE65 | c.345A>C (p.Ile115=) c.69A>C (p.Ile23=) | |
1 | g.68444784T= | CA1173563475 | RPE65 | c.345A= (p.Ile115=) c.69A= (p.Ile23=) | |
1 | g.68444785A= | CA1173563476 | RPE65 | c.344T= (p.Ile115=) c.68T= (p.Ile23=) | |
1 | g.68444785A>C | CA340748117 | RPE65 | c.344T>G (p.Ile115Arg) c.68T>G (p.Ile23Arg) | |
1 | g.68444785A>G | CA340748119 | RPE65 | c.344T>C (p.Ile115Thr) c.68T>C (p.Ile23Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444785A>T | CA340748120 | RPE65 | c.344T>A (p.Ile115Lys) c.68T>A (p.Ile23Lys) | |
1 | g.68444786T>A | CA340748122 | RPE65 | c.343A>T (p.Ile115Leu) c.67A>T (p.Ile23Leu) | |
1 | g.68444786T>C | CA23575232 | RPE65 | c.343A>G (p.Ile115Val) c.67A>G (p.Ile23Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444786T>G | CA340748125 | RPE65 | c.343A>C (p.Ile115Leu) c.67A>C (p.Ile23Leu) | |
1 | g.68444786T= | CA1173563477 | RPE65 | c.343A= (p.Ile115=) c.67A= (p.Ile23=) | |
1 | g.68444787A>C | CA340748128 | RPE65 | c.342T>G (p.Asn114Lys) c.66T>G (p.Asn22Lys) | |
1 | g.68444787A>G | CA418282925 | RPE65 | c.342T>C (p.Asn114=) c.66T>C (p.Asn22=) | |
1 | g.68444787A>T | CA340748130 | RPE65 | c.342T>A (p.Asn114Lys) c.66T>A (p.Asn22Lys) | |
1 | g.68444788T>A | CA340748134 | RPE65 | c.341A>T (p.Asn114Ile) c.65A>T (p.Asn22Ile) | |
1 | g.68444788T>C | CA340748135 | RPE65 | c.341A>G (p.Asn114Ser) c.65A>G (p.Asn22Ser) | |
1 | g.68444788T>G | CA340748132 | RPE65 | c.341A>C (p.Asn114Thr) c.65A>C (p.Asn22Thr) | |
1 | g.68444789T>A | CA340748137 | RPE65 | c.340A>T (p.Asn114Tyr) c.64A>T (p.Asn22Tyr) | |
1 | g.68444789T>C | CA340748138 | RPE65 | c.340A>G (p.Asn114Asp) c.64A>G (p.Asn22Asp) | |
1 | g.68444789T>G | CA340748140 | RPE65 | c.340A>C (p.Asn114His) c.64A>C (p.Asn22His) | |
1 | g.68444790C>A | CA340748143 | RPE65 | c.339G>T (p.Lys113Asn) c.63G>T (p.Lys21Asn) | |
1 | g.68444790C>G | CA340748145 | RPE65 | c.339G>C (p.Lys113Asn) c.63G>C (p.Lys21Asn) | COSMIC |
1 | g.68444790C>T | CA418282935 | RPE65 | c.339G>A (p.Lys113=) c.63G>A (p.Lys21=) | |
1 | g.68444791T>A | CA340748151 | RPE65 | c.338A>T (p.Lys113Met) c.62A>T (p.Lys21Met) | |
1 | g.68444791T>C | CA340748146 | RPE65 | c.338A>G (p.Lys113Arg) c.62A>G (p.Lys21Arg) | |
1 | g.68444791T>G | CA340748148 | RPE65 | c.338A>C (p.Lys113Thr) c.62A>C (p.Lys21Thr) | |
1 | g.68444792T>A | CA340748153 | RPE65 | c.337A>T (p.Lys113Ter) c.61A>T (p.Lys21Ter) | |
1 | g.68444792T>C | CA340748155 | RPE65 | c.337A>G (p.Lys113Glu) c.61A>G (p.Lys21Glu) | |
1 | g.68444792T>G | CA902542 | RPE65 | c.337A>C (p.Lys113Gln) c.61A>C (p.Lys21Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444792T= | CA1173563478 | RPE65 | c.337A= (p.Lys113=) c.61A= (p.Lys21=) | |
1 | g.68444793G>A | CA418282941 | RPE65 | c.336C>T (p.Cys112=) c.60C>T (p.Cys20=) | gnomAD v4 |
1 | g.68444793G>C | CA340748158 | RPE65 | c.336C>G (p.Cys112Trp) c.60C>G (p.Cys20Trp) | |
1 | g.68444793G= | CA1173563479 | RPE65 | c.336C= (p.Cys112=) c.60C= (p.Cys20=) | |
1 | g.68444793G>T | CA340748160 | RPE65 | c.336C>A (p.Cys112Ter) c.60C>A (p.Cys20Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444794C>A | CA340748166 | RPE65 | c.335G>T (p.Cys112Phe) c.59G>T (p.Cys20Phe) | |
1 | g.68444794C= | CA1173563480 | RPE65 | c.335G= (p.Cys112=) c.59G= (p.Cys20=) | |
1 | g.68444794C>G | CA340748164 | RPE65 | c.335G>C (p.Cys112Ser) c.59G>C (p.Cys20Ser) | |
1 | g.68444794C>T | CA902543 | RPE65 | c.335G>A (p.Cys112Tyr) c.59G>A (p.Cys20Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444795A>C | CA340748169 | RPE65 | c.334T>G (p.Cys112Gly) c.58T>G (p.Cys20Gly) | |
1 | g.68444795A>G | CA340748173 | RPE65 | c.334T>C (p.Cys112Arg) c.58T>C (p.Cys20Arg) | |
1 | g.68444795A>T | CA340748171 | RPE65 | c.334T>A (p.Cys112Ser) c.58T>A (p.Cys20Ser) | |
1 | g.68444796G>A | CA23575282 | RPE65 | c.333C>T (p.Pro111=) c.57C>T (p.Pro19=) | dbSNP |
1 | g.68444796G>C | CA418282950 | RPE65 | c.333C>G (p.Pro111=) c.57C>G (p.Pro19=) | |
1 | g.68444796G= | CA1140731258 | RPE65 | c.333C= (p.Pro111=) c.57C= (p.Pro19=) | |
1 | g.68444796G>T | CA418282949 | RPE65 | c.333C>A (p.Pro111=) c.57C>A (p.Pro19=) | gnomAD v4 |