| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68444651_68444656del | CA2744001084 | RPE65 | c.370_375del (p.Arg124_Gly125del) c.94_99del (p.Arg32_Gly33del) | |
| 1 | g.68444656G>A | CA226545 | RPE65 | c.370C>T (p.Arg124Ter) c.94C>T (p.Arg32Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68444656G>C | CA340747961 | RPE65 | c.370C>G (p.Arg124Gly) c.94C>G (p.Arg32Gly) | |
| 1 | g.68444656G= | CA1140725792 | RPE65 | c.370C= (p.Arg124=) c.94C= (p.Arg32=) | |
| 1 | g.68444656G>T | CA902521 | RPE65 | c.370C>A (p.Arg124=) c.94C>A (p.Arg32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68444656_68444658del | CA2744001085 | RPE65 | c.368_370del (p.Phe123Ter) c.92_94del (p.Phe31Ter) | |
| 1 | g.68444657A>C | CA340747962 | RPE65 | c.369T>G (p.Phe123Leu) c.93T>G (p.Phe31Leu) | |
| 1 | g.68444657A>G | CA418282753 | RPE65 | c.369T>C (p.Phe123=) c.93T>C (p.Phe31=) | |
| 1 | g.68444657A>T | CA340747963 | RPE65 | c.369T>A (p.Phe123Leu) c.93T>A (p.Phe31Leu) | |
| 1 | g.68444658A>C | CA340747964 | RPE65 | c.368T>G (p.Phe123Cys) c.92T>G (p.Phe31Cys) | |
| 1 | g.68444658A>G | CA340747966 | RPE65 | c.368T>C (p.Phe123Ser) c.92T>C (p.Phe31Ser) | |
| 1 | g.68444658A>T | CA340747968 | RPE65 | c.368T>A (p.Phe123Tyr) c.92T>A (p.Phe31Tyr) | |
| 1 | g.68444659A= | CA1173563426 | RPE65 | c.367T= (p.Phe123=) c.91T= (p.Phe31=) | |
| 1 | g.68444659A>C | CA340747970 | RPE65 | c.367T>G (p.Phe123Val) c.91T>G (p.Phe31Val) | |
| 1 | g.68444659A>G | CA902522 | RPE65 | c.367T>C (p.Phe123Leu) c.91T>C (p.Phe31Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68444659A>T | CA340747972 | RPE65 | c.367T>A (p.Phe123Ile) c.91T>A (p.Phe31Ile) | |
| 1 | g.68444660G>A | CA418282754 | RPE65 | c.366C>T (p.Tyr122=) c.90C>T (p.Tyr30=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68444660G>C | CA340747975 | RPE65 | c.366C>G (p.Tyr122Ter) c.90C>G (p.Tyr30Ter) | |
| 1 | g.68444660G= | CA1173563427 | RPE65 | c.366C= (p.Tyr122=) c.90C= (p.Tyr30=) | |
| 1 | g.68444660G>T | CA340747977 | RPE65 | c.366C>A (p.Tyr122Ter) c.90C>A (p.Tyr30Ter) | ClinVar |
| 1 | g.68444661T>A | CA340747983 | RPE65 | c.365A>T (p.Tyr122Phe) c.89A>T (p.Tyr30Phe) | |
| 1 | g.68444661T>C | CA340747981 | RPE65 | c.365A>G (p.Tyr122Cys) c.89A>G (p.Tyr30Cys) | gnomAD v4 |
| 1 | g.68444661T>G | CA340747980 | RPE65 | c.365A>C (p.Tyr122Ser) c.89A>C (p.Tyr30Ser) | |
| 1 | g.68444662A>C | CA340747985 | RPE65 | c.364T>G (p.Tyr122Asp) c.88T>G (p.Tyr30Asp) | |
| 1 | g.68444662A>G | CA340747987 | RPE65 | c.364T>C (p.Tyr122His) c.88T>C (p.Tyr30His) | |
| 1 | g.68444662A>T | CA340747989 | RPE65 | c.364T>A (p.Tyr122Asn) c.88T>A (p.Tyr30Asn) | |
| 1 | g.68444663A>C | CA418282755 | RPE65 | c.363T>G (p.Ser121=) c.87T>G (p.Ser29=) | |
| 1 | g.68444663A>G | CA418282756 | RPE65 | c.363T>C (p.Ser121=) c.87T>C (p.Ser29=) | |
| 1 | g.68444663A>T | CA418282757 | RPE65 | c.363T>A (p.Ser121=) c.87T>A (p.Ser29=) | |
| 1 | g.68444664G>A | CA340747991 | RPE65 | c.362C>T (p.Ser121Phe) c.86C>T (p.Ser29Phe) | |
| 1 | g.68444664G>C | CA340747992 | RPE65 | c.362C>G (p.Ser121Cys) c.86C>G (p.Ser29Cys) | |
| 1 | g.68444664G>T | CA340747994 | RPE65 | c.362C>A (p.Ser121Tyr) c.86C>A (p.Ser29Tyr) | gnomAD v4 |
| 1 | g.68444664_68444665delinsGA | CA1173563428 | RPE65 | c.361_362delinsTC (p.Ser121=) c.85_86delinsTC (p.Ser29=) | |
| 1 | g.68444665A>C | CA340747996 | RPE65 | c.361T>G (p.Ser121Ala) c.85T>G (p.Ser29Ala) | |
| 1 | g.68444665A>G | CA340747998 | RPE65 | c.361T>C (p.Ser121Pro) c.85T>C (p.Ser29Pro) | |
| 1 | g.68444665A>T | CA340748000 | RPE65 | c.361T>A (p.Ser121Thr) c.85T>A (p.Ser29Thr) | |
| 1 | g.68444665_68444671delinsAAAAAAA | CA1141580845 | RPE65 | c.355_361delinsTTTTTTT (p.Phe119=) c.79_85delinsTTTTTTT (p.Phe27=) | |
| 1 | g.68444671dup | CA23575009 | RPE65 | c.361dup (p.Ser121PhefsTer10) c.85dup (p.Ser29PhefsTer10) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68444671del | CA523301836 | RPE65 | c.361del (p.Ser121LeufsTer6) c.85del (p.Ser29LeufsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68444666A= | CA1173563429 | RPE65 | c.360T= (p.Phe120=) c.84T= (p.Phe28=) | |
| 1 | g.68444666A>C | CA340748002 | RPE65 | c.360T>G (p.Phe120Leu) c.84T>G (p.Phe28Leu) | |
| 1 | g.68444666A>G | CA902523 | RPE65 | c.360T>C (p.Phe120=) c.84T>C (p.Phe28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68444666A>T | CA340748005 | RPE65 | c.360T>A (p.Phe120Leu) c.84T>A (p.Phe28Leu) | |
| 1 | g.68444667A= | CA1173563430 | RPE65 | c.359T= (p.Phe120=) c.83T= (p.Phe28=) | |
| 1 | g.68444667A>C | CA340748009 | RPE65 | c.359T>G (p.Phe120Cys) c.83T>G (p.Phe28Cys) | |
| 1 | g.68444667A>G | CA340748011 | RPE65 | c.359T>C (p.Phe120Ser) c.83T>C (p.Phe28Ser) | dbSNP |
| 1 | g.68444667A>T | CA340748007 | RPE65 | c.359T>A (p.Phe120Tyr) c.83T>A (p.Phe28Tyr) | |
| 1 | g.68444668A= | CA1173563431 | RPE65 | c.358T= (p.Phe120=) c.82T= (p.Phe28=) | |
| 1 | g.68444668A>C | CA340748013 | RPE65 | c.358T>G (p.Phe120Val) c.82T>G (p.Phe28Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68444668A>G | CA340748015 | RPE65 | c.358T>C (p.Phe120Leu) c.82T>C (p.Phe28Leu) | |
| 1 | g.68444668A>T | CA340748016 | RPE65 | c.358T>A (p.Phe120Ile) c.82T>A (p.Phe28Ile) | |
| 1 | g.68444669A>C | CA340748019 | RPE65 | c.357T>G (p.Phe119Leu) c.81T>G (p.Phe27Leu) | gnomAD v4 |
| 1 | g.68444669A>G | CA418282758 | RPE65 | c.357T>C (p.Phe119=) c.81T>C (p.Phe27=) | |
| 1 | g.68444669A>T | CA340748020 | RPE65 | c.357T>A (p.Phe119Leu) c.81T>A (p.Phe27Leu) | |
| 1 | g.68444670A>C | CA340748022 | RPE65 | c.356T>G (p.Phe119Cys) c.80T>G (p.Phe27Cys) | |
| 1 | g.68444670A>G | CA340748023 | RPE65 | c.356T>C (p.Phe119Ser) c.80T>C (p.Phe27Ser) | |
| 1 | g.68444670A>T | CA340748025 | RPE65 | c.356T>A (p.Phe119Tyr) c.80T>A (p.Phe27Tyr) | |
| 1 | g.68444671A= | CA1173563432 | RPE65 | c.355T= (p.Phe119=) c.79T= (p.Phe27=) | |
| 1 | g.68444671A>C | CA340748027 | RPE65 | c.355T>G (p.Phe119Val) c.79T>G (p.Phe27Val) | dbSNP |
| 1 | g.68444671A>G | CA340748029 | RPE65 | c.355T>C (p.Phe119Leu) c.79T>C (p.Phe27Leu) | |
| 1 | g.68444671A>T | CA340748030 | RPE65 | c.355T>A (p.Phe119Ile) c.79T>A (p.Phe27Ile) | |
| 1 | g.68444672C>A | CA340748033 | RPE65 | c.354G>T (p.Arg118Ser) c.78G>T (p.Arg26Ser) | ClinVar dbSNP |
| 1 | g.68444672C= | CA1173563433 | RPE65 | c.354G= (p.Arg118=) c.78G= (p.Arg26=) | |
| 1 | g.68444672C>G | CA340748034 | RPE65 | c.354G>C (p.Arg118Ser) c.78G>C (p.Arg26Ser) | gnomAD v4 |
| 1 | g.68444672C>T | CA23575050 | RPE65 | c.354G>A (p.Arg118=) c.78G>A (p.Arg26=) | dbSNP gnomAD v4 |
| 1 | g.68444672_68444673insTGTTTGTAATGAATATCCAGGAGTCCATA | CA1173563434 | RPE65 | c.354-1_354insTATGGACTCCTGGATATTCATTACAAACA (n.354-1_354insTATGGACTCCTGGATATTCATTACAAACA) c.78-1_78insTATGGACTCCTGGATATTCATTACAAACA (n.78-1_78insTATGGACTCCTGGATATTCATTACAAACA) | dbSNP |
| 1 | g.68444673C>A | CA340748036 | RPE65 | c.354-1G>T (n.354-1G>T) c.78-1G>T (n.78-1G>T) | ClinVar dbSNP |
| 1 | g.68444673C>G | CA340748040 | RPE65 | c.354-1G>C (n.354-1G>C) c.78-1G>C (n.78-1G>C) | |
| 1 | g.68444673C>T | CA340748038 | RPE65 | c.354-1G>A (n.354-1G>A) c.78-1G>A (n.78-1G>A) | ClinVar dbSNP |
| 1 | g.68444674del | CA2573131984 | RPE65 | c.354-2del (n.354-2del) c.78-2del (n.78-2del) | ClinVar dbSNP |
| 1 | g.68444674T>A | CA340748042 | RPE65 | c.354-2A>T (n.354-2A>T) c.78-2A>T (n.78-2A>T) | |
| 1 | g.68444674T>C | CA340748044 | RPE65 | c.354-2A>G (n.354-2A>G) c.78-2A>G (n.78-2A>G) | ClinVar |
| 1 | g.68444674T>G | CA340748045 | RPE65 | c.354-2A>C (n.354-2A>C) c.78-2A>C (n.78-2A>C) | |
| 1 | g.68444676T>C | CA2572040237 | RPE65 | c.354-4A>G (n.354-4A>G) c.78-4A>G (n.78-4A>G) | |
| 1 | g.68444677A= | CA1173563436 | RPE65 | c.354-5T= (n.354-5T=) c.78-5T= (n.78-5T=) | |
| 1 | g.68444677A>G | CA1173563435 | RPE65 | c.354-5T>C (n.354-5T>C) c.78-5T>C (n.78-5T>C) | dbSNP |
| 1 | g.68444679A= | CA1173563437 | RPE65 | c.354-7T= (n.354-7T=) c.78-7T= (n.78-7T=) | |
| 1 | g.68444679A>G | CA902524 | RPE65 | c.354-7T>C (n.354-7T>C) c.78-7T>C (n.78-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68444681A>G | CA2569243273 | RPE65 | c.354-9T>C (n.354-9T>C) c.78-9T>C (n.78-9T>C) | |
| 1 | g.68444682C>A | CA523301921 | RPE65 | c.354-10G>T (n.354-10G>T) c.78-10G>T (n.78-10G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68444682C= | CA1173563438 | RPE65 | c.354-10G= (n.354-10G=) c.78-10G= (n.78-10G=) | |
| 1 | g.68444682C>T | CA2646150339 | RPE65 | c.354-10G>A (n.354-10G>A) c.78-10G>A (n.78-10G>A) | gnomAD v4 |
| 1 | g.68444684A>G | CA2646150342 | RPE65 | c.354-12T>C (n.354-12T>C) c.78-12T>C (n.78-12T>C) | gnomAD v4 |
| 1 | g.68444686T>A | CA523301922 | RPE65 | c.354-14A>T (n.354-14A>T) c.78-14A>T (n.78-14A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68444686T>C | CA2646150347 | RPE65 | c.354-14A>G (n.354-14A>G) c.78-14A>G (n.78-14A>G) | gnomAD v4 |
| 1 | g.68444686T>G | CA2646150345 | RPE65 | c.354-14A>C (n.354-14A>C) c.78-14A>C (n.78-14A>C) | gnomAD v4 |
| 1 | g.68444686T= | CA1173563439 | RPE65 | c.354-14A= (n.354-14A=) c.78-14A= (n.78-14A=) | |
| 1 | g.68444687G>A | CA2740090758 | RPE65 | c.354-15C>T (n.354-15C>T) c.78-15C>T (n.78-15C>T) | ClinVar |
| 1 | g.68444688A>G | CA2514892783 | RPE65 | c.354-16T>C (n.354-16T>C) c.78-16T>C (n.78-16T>C) | |
| 1 | g.68444695C= | CA1173563440 | RPE65 | c.354-23G= (n.354-23G=) c.78-23G= (n.78-23G=) | |
| 1 | g.68444695C>T | CA1173563441 | RPE65 | c.354-23G>A (n.354-23G>A) c.78-23G>A (n.78-23G>A) | dbSNP |
| 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=) |