Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68431260_68431261delinsAT | CA1173557975 | RPE65 | c.1338+21_1338+22delinsAT (n.1338+21_1338+22delinsAT) c.1062+21_1062+22delinsAT (n.1062+21_1062+22delinsAT) | |
1 | g.68431260_68431263del | CA2744009095 | RPE65 | c.1338+19_1338+22del (n.1338+19_1338+22del) c.1062+19_1062+22del (n.1062+19_1062+22del) | |
1 | g.68431261T>C | CA2646150123 | RPE65 | c.1338+21A>G (n.1338+21A>G) c.1062+21A>G (n.1062+21A>G) | gnomAD v4 |
1 | g.68431262del | CA523749723 | RPE65 | c.1338+21del (n.1338+21del) c.1062+21del (n.1062+21del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431262T>A | CA646107210 | RPE65 | c.1338+20A>T (n.1338+20A>T) c.1062+20A>T (n.1062+20A>T) | COSMIC |
1 | g.68431262T>C | CA1173557976 | RPE65 | c.1338+20A>G (n.1338+20A>G) c.1062+20A>G (n.1062+20A>G) | dbSNP |
1 | g.68431262T>G | CA285813 | RPE65 | c.1338+20A>C (n.1338+20A>C) c.1062+20A>C (n.1062+20A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431262T= | CA1140402783 | RPE65 | c.1338+20A= (n.1338+20A=) c.1062+20A= (n.1062+20A=) | |
1 | g.68431263A>T | CA2740090762 | RPE65 | c.1338+19T>A (n.1338+19T>A) c.1062+19T>A (n.1062+19T>A) | ClinVar |
1 | g.68431264G>A | CA2646150124 | RPE65 | c.1338+18C>T (n.1338+18C>T) c.1062+18C>T (n.1062+18C>T) | gnomAD v4 |
1 | g.68431264G>C | CA2744009096 | RPE65 | c.1338+18C>G (n.1338+18C>G) c.1062+18C>G (n.1062+18C>G) | |
1 | g.68431264G= | CA1173557977 | RPE65 | c.1338+18C= (n.1338+18C=) c.1062+18C= (n.1062+18C=) | |
1 | g.68431264G>T | CA523749724 | RPE65 | c.1338+18C>A (n.1338+18C>A) c.1062+18C>A (n.1062+18C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68431265T>A | CA902205 | RPE65 | c.1338+17A>T (n.1338+17A>T) c.1062+17A>T (n.1062+17A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431265T= | CA1173557978 | RPE65 | c.1338+17A= (n.1338+17A=) c.1062+17A= (n.1062+17A=) | |
1 | g.68431266A= | CA1173557979 | RPE65 | c.1338+16T= (n.1338+16T=) c.1062+16T= (n.1062+16T=) | |
1 | g.68431266A>G | CA1173557980 | RPE65 | c.1338+16T>C (n.1338+16T>C) c.1062+16T>C (n.1062+16T>C) | dbSNP |
1 | g.68431267A= | CA1173557981 | RPE65 | c.1338+15T= (n.1338+15T=) c.1062+15T= (n.1062+15T=) | |
1 | g.68431267A>C | CA523749725 | RPE65 | c.1338+15T>G (n.1338+15T>G) c.1062+15T>G (n.1062+15T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68431267A>G | CA2740090763 | RPE65 | c.1338+15T>C (n.1338+15T>C) c.1062+15T>C (n.1062+15T>C) | ClinVar |
1 | g.68431268del | CA2744009097 | RPE65 | c.1338+14del (n.1338+14del) c.1062+14del (n.1062+14del) | |
1 | g.68431269A>G | CA2646150125 | RPE65 | c.1338+13T>C (n.1338+13T>C) c.1062+13T>C (n.1062+13T>C) | ClinVar gnomAD v4 |
1 | g.68431270A>T | CA2504071114 | RPE65 | c.1338+12T>A (n.1338+12T>A) c.1062+12T>A (n.1062+12T>A) | |
1 | g.68431270_68431271delinsAG | CA1173557982 | RPE65 | c.1338+11_1338+12delinsCT (n.1338+11_1338+12delinsCT) c.1062+11_1062+12delinsCT (n.1062+11_1062+12delinsCT) | |
1 | g.68431271G>A | CA2646150126 | RPE65 | c.1338+11C>T (n.1338+11C>T) c.1062+11C>T (n.1062+11C>T) | gnomAD v4 |
1 | g.68431271G>C | CA2646150127 | RPE65 | c.1338+11C>G (n.1338+11C>G) c.1062+11C>G (n.1062+11C>G) | ClinVar gnomAD v4 |
1 | g.68431272del | CA916200247 | RPE65 | c.1338+11del (n.1338+11del) c.1062+11del (n.1062+11del) | dbSNP |
1 | g.68431272G>A | CA2573132572 | RPE65 | c.1338+10C>T (n.1338+10C>T) c.1062+10C>T (n.1062+10C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.68431272G>T | CA2646150128 | RPE65 | c.1338+10C>A (n.1338+10C>A) c.1062+10C>A (n.1062+10C>A) | gnomAD v4 |
1 | g.68431272_68431273insTGTGCCTC | CA2744009098 | RPE65 | c.1338+9_1338+10insGAGGCACA (n.1338+9_1338+10insGAGGCACA) c.1062+9_1062+10insGAGGCACA (n.1062+9_1062+10insGAGGCACA) | |
1 | g.68431273A>T | CA2499214851 | RPE65 | c.1338+9T>A (n.1338+9T>A) c.1062+9T>A (n.1062+9T>A) | ClinVar dbSNP gnomAD v4 |
1 | g.68431274T>C | CA902206 | RPE65 | c.1338+8A>G (n.1338+8A>G) c.1062+8A>G (n.1062+8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431274T= | CA1173557983 | RPE65 | c.1338+8A= (n.1338+8A=) c.1062+8A= (n.1062+8A=) | |
1 | g.68431274_68431275insCCCTTTCCTGA | CA2744009099 | RPE65 | c.1338+7_1338+8insTCAGGAAAGGG (n.1338+7_1338+8insTCAGGAAAGGG) c.1062+7_1062+8insTCAGGAAAGGG (n.1062+7_1062+8insTCAGGAAAGGG) | |
1 | g.68431275T>C | CA2599702911 | RPE65 | c.1338+7A>G (n.1338+7A>G) c.1062+7A>G (n.1062+7A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68431276A= | CA1143801792 | RPE65 | c.1338+6T= (n.1338+6T=) c.1062+6T= (n.1062+6T=) | |
1 | g.68431276A>C | CA23563982 | RPE65 | c.1338+6T>G (n.1338+6T>G) c.1062+6T>G (n.1062+6T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68431279T>A | CA1139655497 | RPE65 | c.1338+3A>T (n.1338+3A>T) c.1062+3A>T (n.1062+3A>T) | ClinVar dbSNP gnomAD v4 |
1 | g.68431279T>G | CA2646150129 | RPE65 | c.1338+3A>C (n.1338+3A>C) c.1062+3A>C (n.1062+3A>C) | gnomAD v4 |
1 | g.68431279T= | CA1173557984 | RPE65 | c.1338+3A= (n.1338+3A=) c.1062+3A= (n.1062+3A=) | |
1 | g.68431280A>C | CA340742349 | RPE65 | c.1338+2T>G (n.1338+2T>G) c.1062+2T>G (n.1062+2T>G) | |
1 | g.68431280A>G | CA340742350 | RPE65 | c.1338+2T>C (n.1338+2T>C) c.1062+2T>C (n.1062+2T>C) | |
1 | g.68431280A>T | CA340742351 | RPE65 | c.1338+2T>A (n.1338+2T>A) c.1062+2T>A (n.1062+2T>A) | |
1 | g.68431281C>A | CA340742352 | RPE65 | c.1338+1G>T (n.1338+1G>T) c.1062+1G>T (n.1062+1G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431281C= | CA1173557985 | RPE65 | c.1338+1G= (n.1338+1G=) c.1062+1G= (n.1062+1G=) | |
1 | g.68431281C>G | CA340742353 | RPE65 | c.1338+1G>C (n.1338+1G>C) c.1062+1G>C (n.1062+1G>C) | |
1 | g.68431281C>T | CA16043370 | RPE65 | c.1338+1G>A (n.1338+1G>A) c.1062+1G>A (n.1062+1G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.68431282C>A | CA340742354 | RPE65 | c.1338G>T (p.Arg446Ser) c.1062G>T (p.Arg354Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431282C= | CA1173557986 | RPE65 | c.1338G= (p.Arg446=) c.1062G= (p.Arg354=) | |
1 | g.68431282C>G | CA340742355 | RPE65 | c.1338G>C (p.Arg446Ser) c.1062G>C (p.Arg354Ser) | |
1 | g.68431282C>T | CA418277628 | RPE65 | c.1338G>A (p.Arg446=) c.1062G>A (p.Arg354=) | gnomAD v4 |
1 | g.68431283C>A | CA340742358 | RPE65 | c.1337G>T (p.Arg446Met) c.1061G>T (p.Arg354Met) | gnomAD v4 |
1 | g.68431283C>G | CA340742356 | RPE65 | c.1337G>C (p.Arg446Thr) c.1061G>C (p.Arg354Thr) | |
1 | g.68431283C>T | CA340742357 | RPE65 | c.1337G>A (p.Arg446Lys) c.1061G>A (p.Arg354Lys) | gnomAD v4 |
1 | g.68431284T>A | CA340742359 | RPE65 | c.1336A>T (p.Arg446Trp) c.1060A>T (p.Arg354Trp) | COSMIC |
1 | g.68431284T>C | CA340742360 | RPE65 | c.1336A>G (p.Arg446Gly) c.1060A>G (p.Arg354Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68431284T>G | CA418277636 | RPE65 | c.1336A>C (p.Arg446=) c.1060A>C (p.Arg354=) | |
1 | g.68431284T= | CA1173557987 | RPE65 | c.1336A= (p.Arg446=) c.1060A= (p.Arg354=) | |
1 | g.68431284dup | CA2580612187 | RPE65 | c.1336dup (p.Arg446LysfsTer4) c.1060dup (p.Arg354LysfsTer4) | ClinVar gnomAD v4 |
1 | g.68431285A= | CA1148378472 | RPE65 | c.1335T= (p.Asp445=) c.1059T= (p.Asp353=) | |
1 | g.68431285A>C | CA340742361 | RPE65 | c.1335T>G (p.Asp445Glu) c.1059T>G (p.Asp353Glu) | |
1 | g.68431285A>G | CA902207 | RPE65 | c.1335T>C (p.Asp445=) c.1059T>C (p.Asp353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431285A>T | CA340742362 | RPE65 | c.1335T>A (p.Asp445Glu) c.1059T>A (p.Asp353Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68431286T>A | CA340742363 | RPE65 | c.1334A>T (p.Asp445Val) c.1058A>T (p.Asp353Val) | |
1 | g.68431286T>C | CA340742364 | RPE65 | c.1334A>G (p.Asp445Gly) c.1058A>G (p.Asp353Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68431286T>G | CA340742365 | RPE65 | c.1334A>C (p.Asp445Ala) c.1058A>C (p.Asp353Ala) | |
1 | g.68431286T= | CA1173557988 | RPE65 | c.1334A= (p.Asp445=) c.1058A= (p.Asp353=) | |
1 | g.68431287C>A | CA340742366 | RPE65 | c.1333G>T (p.Asp445Tyr) c.1057G>T (p.Asp353Tyr) | |
1 | g.68431287C>G | CA340742367 | RPE65 | c.1333G>C (p.Asp445His) c.1057G>C (p.Asp353His) | ClinVar COSMIC |
1 | g.68431287C>T | CA340742368 | RPE65 | c.1333G>A (p.Asp445Asn) c.1057G>A (p.Asp353Asn) | |
1 | g.68431288T>A | CA418277647 | RPE65 | c.1332A>T (p.Pro444=) c.1056A>T (p.Pro352=) | |
1 | g.68431288T>C | CA418277649 | RPE65 | c.1332A>G (p.Pro444=) c.1056A>G (p.Pro352=) | gnomAD v4 |
1 | g.68431288T>G | CA418277650 | RPE65 | c.1332A>C (p.Pro444=) c.1056A>C (p.Pro352=) | |
1 | g.68431289G>A | CA340742371 | RPE65 | c.1331C>T (p.Pro444Leu) c.1055C>T (p.Pro352Leu) | |
1 | g.68431289G>C | CA340742370 | RPE65 | c.1331C>G (p.Pro444Arg) c.1055C>G (p.Pro352Arg) | |
1 | g.68431289G>T | CA340742369 | RPE65 | c.1331C>A (p.Pro444Gln) c.1055C>A (p.Pro352Gln) | |
1 | g.68431290del | CA2574402877 | RPE65 | c.1331del (p.Pro444GlnfsTer7) c.1055del (p.Pro352GlnfsTer7) | |
1 | g.68431290G>A | CA340742372 | RPE65 | c.1330C>T (p.Pro444Ser) c.1054C>T (p.Pro352Ser) | |
1 | g.68431290G>C | CA340742373 | RPE65 | c.1330C>G (p.Pro444Ala) c.1054C>G (p.Pro352Ala) | dbSNP |
1 | g.68431290G= | CA1173557989 | RPE65 | c.1330C= (p.Pro444=) c.1054C= (p.Pro352=) | |
1 | g.68431290G>T | CA340742374 | RPE65 | c.1330C>A (p.Pro444Thr) c.1054C>A (p.Pro352Thr) | |
1 | g.68431291A>C | CA418277657 | RPE65 | c.1329T>G (p.Val443=) c.1053T>G (p.Val351=) | |
1 | g.68431291A>G | CA418277658 | RPE65 | c.1329T>C (p.Val443=) c.1053T>C (p.Val351=) | |
1 | g.68431291A>T | CA418277660 | RPE65 | c.1329T>A (p.Val443=) c.1053T>A (p.Val351=) | |
1 | g.68431292A= | CA1173557990 | RPE65 | c.1328T= (p.Val443=) c.1052T= (p.Val351=) | |
1 | g.68431292A>C | CA340742375 | RPE65 | c.1328T>G (p.Val443Gly) c.1052T>G (p.Val351Gly) | |
1 | g.68431292A>G | CA340742376 | RPE65 | c.1328T>C (p.Val443Ala) c.1052T>C (p.Val351Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.68431292A>T | CA340742377 | RPE65 | c.1328T>A (p.Val443Asp) c.1052T>A (p.Val351Asp) | |
1 | g.68431293C>A | CA340742382 | RPE65 | c.1327G>T (p.Val443Phe) c.1051G>T (p.Val351Phe) | |
1 | g.68431293C>G | CA340742378 | RPE65 | c.1327G>C (p.Val443Leu) c.1051G>C (p.Val351Leu) | |
1 | g.68431293C>T | CA340742380 | RPE65 | c.1327G>A (p.Val443Ile) c.1051G>A (p.Val351Ile) | gnomAD v4 |
1 | g.68431294A>C | CA340742383 | RPE65 | c.1326T>G (p.Phe442Leu) c.1050T>G (p.Phe350Leu) | |
1 | g.68431294A>G | CA418277667 | RPE65 | c.1326T>C (p.Phe442=) c.1050T>C (p.Phe350=) | |
1 | g.68431294A>T | CA340742384 | RPE65 | c.1326T>A (p.Phe442Leu) c.1050T>A (p.Phe350Leu) | |
1 | g.68431295A>C | CA340742387 | RPE65 | c.1325T>G (p.Phe442Cys) c.1049T>G (p.Phe350Cys) | |
1 | g.68431295A>G | CA340742389 | RPE65 | c.1325T>C (p.Phe442Ser) c.1049T>C (p.Phe350Ser) | |
1 | g.68431295A>T | CA340742390 | RPE65 | c.1325T>A (p.Phe442Tyr) c.1049T>A (p.Phe350Tyr) | |
1 | g.68431296A>C | CA340742394 | RPE65 | c.1324T>G (p.Phe442Val) c.1048T>G (p.Phe350Val) | |
1 | g.68431296A>G | CA340742391 | RPE65 | c.1324T>C (p.Phe442Leu) c.1048T>C (p.Phe350Leu) | |
1 | g.68431296A>T | CA340742392 | RPE65 | c.1324T>A (p.Phe442Ile) c.1048T>A (p.Phe350Ile) | |
1 | g.68431297G>A | CA418277674 | RPE65 | c.1323C>T (p.His441=) c.1047C>T (p.His349=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68431297G>C | CA340742395 | RPE65 | c.1323C>G (p.His441Gln) c.1047C>G (p.His349Gln) | |
1 | g.68431297G= | CA1173557991 | RPE65 | c.1323C= (p.His441=) c.1047C= (p.His349=) | |
1 | g.68431297G>T | CA340742397 | RPE65 | c.1323C>A (p.His441Gln) c.1047C>A (p.His349Gln) | |
1 | g.68431298T>A | CA340742400 | RPE65 | c.1322A>T (p.His441Leu) c.1046A>T (p.His349Leu) | |
1 | g.68431298T>C | CA340742401 | RPE65 | c.1322A>G (p.His441Arg) c.1046A>G (p.His349Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.68431298T>G | CA340742402 | RPE65 | c.1322A>C (p.His441Pro) c.1046A>C (p.His349Pro) | |
1 | g.68431298T= | CA1173557992 | RPE65 | c.1322A= (p.His441=) c.1046A= (p.His349=) | |
1 | g.68431299G>A | CA340742405 | RPE65 | c.1321C>T (p.His441Tyr) c.1045C>T (p.His349Tyr) | |
1 | g.68431299G>C | CA340742406 | RPE65 | c.1321C>G (p.His441Asp) c.1045C>G (p.His349Asp) | |
1 | g.68431299G= | CA1173557993 | RPE65 | c.1321C= (p.His441=) c.1045C= (p.His349=) | |
1 | g.68431299G>T | CA902208 | RPE65 | c.1321C>A (p.His441Asn) c.1045C>A (p.His349Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.68431300A>C | CA340742409 | RPE65 | c.1320T>G (p.Asn440Lys) c.1044T>G (p.Asn348Lys) | |
1 | g.68431300A>G | CA418277683 | RPE65 | c.1320T>C (p.Asn440=) c.1044T>C (p.Asn348=) | |
1 | g.68431300A>T | CA340742411 | RPE65 | c.1320T>A (p.Asn440Lys) c.1044T>A (p.Asn348Lys) | |
1 | g.68431301T>A | CA340742413 | RPE65 | c.1319A>T (p.Asn440Ile) c.1043A>T (p.Asn348Ile) | gnomAD v4 |
1 | g.68431301T>C | CA340742415 | RPE65 | c.1319A>G (p.Asn440Ser) c.1043A>G (p.Asn348Ser) | |
1 | g.68431301T>G | CA340742417 | RPE65 | c.1319A>C (p.Asn440Thr) c.1043A>C (p.Asn348Thr) | |
1 | g.68431302T>A | CA340742419 | RPE65 | c.1318A>T (p.Asn440Tyr) c.1042A>T (p.Asn348Tyr) | |
1 | g.68431302T>C | CA340742422 | RPE65 | c.1318A>G (p.Asn440Asp) c.1042A>G (p.Asn348Asp) | |
1 | g.68431302T>G | CA340742420 | RPE65 | c.1318A>C (p.Asn440His) c.1042A>C (p.Asn348His) | |
1 | g.68431303C>A | CA340742424 | RPE65 | c.1317G>T (p.Leu439Phe) c.1041G>T (p.Leu347Phe) | gnomAD v4 |
1 | g.68431303C>G | CA340742426 | RPE65 | c.1317G>C (p.Leu439Phe) c.1041G>C (p.Leu347Phe) | |
1 | g.68431303C>T | CA418277688 | RPE65 | c.1317G>A (p.Leu439=) c.1041G>A (p.Leu347=) | gnomAD v4 |
1 | g.68431304A>C | CA340742428 | RPE65 | c.1316T>G (p.Leu439Trp) c.1040T>G (p.Leu347Trp) | |
1 | g.68431304A>G | CA340742430 | RPE65 | c.1316T>C (p.Leu439Ser) c.1040T>C (p.Leu347Ser) | |
1 | g.68431304A>T | CA340742432 | RPE65 | c.1316T>A (p.Leu439Ter) c.1040T>A (p.Leu347Ter) | |
1 | g.68431305A>C | CA340742433 | RPE65 | c.1315T>G (p.Leu439Val) c.1039T>G (p.Leu347Val) | |
1 | g.68431305A>G | CA418277695 | RPE65 | c.1315T>C (p.Leu439=) c.1039T>C (p.Leu347=) | |
1 | g.68431305A>T | CA340742435 | RPE65 | c.1315T>A (p.Leu439Met) c.1039T>A (p.Leu347Met) | |
1 | g.68431306G>A | CA418277700 | RPE65 | c.1314C>T (p.Gly438=) c.1038C>T (p.Gly346=) | |
1 | g.68431306G>C | CA418277702 | RPE65 | c.1314C>G (p.Gly438=) c.1038C>G (p.Gly346=) | |
1 | g.68431306G>T | CA418277698 | RPE65 | c.1314C>A (p.Gly438=) c.1038C>A (p.Gly346=) | ClinVar |
1 | g.68431307C>A | CA340742437 | RPE65 | c.1313G>T (p.Gly438Val) c.1037G>T (p.Gly346Val) | |
1 | g.68431307C>G | CA340742438 | RPE65 | c.1313G>C (p.Gly438Ala) c.1037G>C (p.Gly346Ala) | |
1 | g.68431307C>T | CA340742439 | RPE65 | c.1313G>A (p.Gly438Asp) c.1037G>A (p.Gly346Asp) | |
1 | g.68431308C>A | CA340742441 | RPE65 | c.1312G>T (p.Gly438Cys) c.1036G>T (p.Gly346Cys) | |
1 | g.68431308C>G | CA340742443 | RPE65 | c.1312G>C (p.Gly438Arg) c.1036G>C (p.Gly346Arg) | |
1 | g.68431308C>T | CA340742444 | RPE65 | c.1312G>A (p.Gly438Ser) c.1036G>A (p.Gly346Ser) | |
1 | g.68431309A>C | CA418277710 | RPE65 | c.1311T>G (p.Leu437=) c.1035T>G (p.Leu345=) | |
1 | g.68431309A>G | CA418277708 | RPE65 | c.1311T>C (p.Leu437=) c.1035T>C (p.Leu345=) | |
1 | g.68431309A>T | CA418277709 | RPE65 | c.1311T>A (p.Leu437=) c.1035T>A (p.Leu345=) | |
1 | g.68431310A>C | CA340742446 | RPE65 | c.1310T>G (p.Leu437Arg) c.1034T>G (p.Leu345Arg) | |
1 | g.68431310A>G | CA340742450 | RPE65 | c.1310T>C (p.Leu437Pro) c.1034T>C (p.Leu345Pro) | |
1 | g.68431310A>T | CA340742448 | RPE65 | c.1310T>A (p.Leu437His) c.1034T>A (p.Leu345His) | |
1 | g.68431311G>A | CA340742451 | RPE65 | c.1309C>T (p.Leu437Phe) c.1033C>T (p.Leu345Phe) | ClinVar dbSNP |
1 | g.68431311G>C | CA340742452 | RPE65 | c.1309C>G (p.Leu437Val) c.1033C>G (p.Leu345Val) | |
1 | g.68431311G= | CA1173557994 | RPE65 | c.1309C= (p.Leu437=) c.1033C= (p.Leu345=) | |
1 | g.68431311G>T | CA340742454 | RPE65 | c.1309C>A (p.Leu437Ile) c.1033C>A (p.Leu345Ile) | dbSNP |
1 | g.68431312T>A | CA418277718 | RPE65 | c.1308A>T (p.Gly436=) c.1032A>T (p.Gly344=) | |
1 | g.68431312T>C | CA418277720 | RPE65 | c.1308A>G (p.Gly436=) c.1032A>G (p.Gly344=) | |
1 | g.68431312T>G | CA418277719 | RPE65 | c.1308A>C (p.Gly436=) c.1032A>C (p.Gly344=) | |
1 | g.68431313C>A | CA226505 | RPE65 | c.1307G>T (p.Gly436Val) c.1031G>T (p.Gly344Val) | ClinVar dbSNP |
1 | g.68431313C= | CA1140762637 | RPE65 | c.1307G= (p.Gly436=) c.1031G= (p.Gly344=) | |
1 | g.68431313C>G | CA340742457 | RPE65 | c.1307G>C (p.Gly436Ala) c.1031G>C (p.Gly344Ala) | |
1 | g.68431313C>T | CA340742458 | RPE65 | c.1307G>A (p.Gly436Glu) c.1031G>A (p.Gly344Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.68431314C>A | CA340742461 | RPE65 | c.1306G>T (p.Gly436Ter) c.1030G>T (p.Gly344Ter) | |
1 | g.68431314C>G | CA340742463 | RPE65 | c.1306G>C (p.Gly436Arg) c.1030G>C (p.Gly344Arg) | |
1 | g.68431314C>T | CA340742464 | RPE65 | c.1306G>A (p.Gly436Arg) c.1030G>A (p.Gly344Arg) | ClinVar dbSNP |
1 | g.68431315A>C | CA340742467 | RPE65 | c.1305T>G (p.Tyr435Ter) c.1029T>G (p.Tyr343Ter) | |
1 | g.68431315A>G | CA418277725 | RPE65 | c.1305T>C (p.Tyr435=) c.1029T>C (p.Tyr343=) | ClinVar |
1 | g.68431315A>T | CA340742468 | RPE65 | c.1305T>A (p.Tyr435Ter) c.1029T>A (p.Tyr343Ter) | |
1 | g.68431316T>A | CA340742472 | RPE65 | c.1304A>T (p.Tyr435Phe) c.1028A>T (p.Tyr343Phe) | |
1 | g.68431316T>C | CA226504 | RPE65 | c.1304A>G (p.Tyr435Cys) c.1028A>G (p.Tyr343Cys) | ClinVar dbSNP |
1 | g.68431316T>G | CA340742470 | RPE65 | c.1304A>C (p.Tyr435Ser) c.1028A>C (p.Tyr343Ser) | |
1 | g.68431316T= | CA1140762638 | RPE65 | c.1304A= (p.Tyr435=) c.1028A= (p.Tyr343=) | |
1 | g.68431317A= | CA1173557995 | RPE65 | c.1303T= (p.Tyr435=) c.1027T= (p.Tyr343=) | |
1 | g.68431317A>C | CA340742475 | RPE65 | c.1303T>G (p.Tyr435Asp) c.1027T>G (p.Tyr343Asp) | |
1 | g.68431317A>G | CA340742479 | RPE65 | c.1303T>C (p.Tyr435His) c.1027T>C (p.Tyr343His) | dbSNP gnomAD v4 |
1 | g.68431317A>T | CA340742477 | RPE65 | c.1303T>A (p.Tyr435Asn) c.1027T>A (p.Tyr343Asn) | |
1 | g.68431319_68431340del | CA2580063208 | RPE65 | c.1282_1303del (p.Gly428MetfsTer5) c.1006_1027del (p.Gly336MetfsTer5) | ClinVar |
1 | g.68431318C>A | CA902210 | RPE65 | c.1302G>T (p.Ala434=) c.1026G>T (p.Ala342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431318C= | CA1140762640 | RPE65 | c.1302G= (p.Ala434=) c.1026G= (p.Ala342=) | |
1 | g.68431318C>G | CA226502 | RPE65 | c.1302G>C (p.Ala434=) c.1026G>C (p.Ala342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431318C>T | CA902209 | RPE65 | c.1302G>A (p.Ala434=) c.1026G>A (p.Ala342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431319G>A | CA226501 | RPE65 | c.1301C>T (p.Ala434Val) c.1025C>T (p.Ala342Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431319G>C | CA340742485 | RPE65 | c.1301C>G (p.Ala434Gly) c.1025C>G (p.Ala342Gly) | |
1 | g.68431319G= | CA1140529781 | RPE65 | c.1301C= (p.Ala434=) c.1025C= (p.Ala342=) | |
1 | g.68431319G>T | CA340742486 | RPE65 | c.1301C>A (p.Ala434Glu) c.1025C>A (p.Ala342Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.68431320C>A | CA340742489 | RPE65 | c.1300G>T (p.Ala434Ser) c.1024G>T (p.Ala342Ser) | |
1 | g.68431320C>G | CA340742491 | RPE65 | c.1300G>C (p.Ala434Pro) c.1024G>C (p.Ala342Pro) | dbSNP |
1 | g.68431320C>T | CA340742492 | RPE65 | c.1300G>A (p.Ala434Thr) c.1024G>A (p.Ala342Thr) | |
1 | g.68431321del | CA2646150140 | RPE65 | c.1299del (p.Tyr433Ter) c.1023del (p.Tyr341Ter) | gnomAD v4 |
1 | g.68431321A= | CA1173557996 | RPE65 | c.1299T= (p.Tyr433=) c.1023T= (p.Tyr341=) | |
1 | g.68431321A>C | CA340742498 | RPE65 | c.1299T>G (p.Tyr433Ter) c.1023T>G (p.Tyr341Ter) | |
1 | g.68431321A>G | CA902211 | RPE65 | c.1299T>C (p.Tyr433=) c.1023T>C (p.Tyr341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431321A>T | CA340742495 | RPE65 | c.1299T>A (p.Tyr433Ter) c.1023T>A (p.Tyr341Ter) | ClinVar |
1 | g.68431322T>A | CA340742500 | RPE65 | c.1298A>T (p.Tyr433Phe) c.1022A>T (p.Tyr341Phe) | |
1 | g.68431322T>C | CA902212 | RPE65 | c.1298A>G (p.Tyr433Cys) c.1022A>G (p.Tyr341Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431322T>G | CA340742502 | RPE65 | c.1298A>C (p.Tyr433Ser) c.1022A>C (p.Tyr341Ser) | |
1 | g.68431322T= | CA1142163535 | RPE65 | c.1298A= (p.Tyr433=) c.1022A= (p.Tyr341=) | |
1 | g.68431323A= | CA1173557997 | RPE65 | c.1297T= (p.Tyr433=) c.1021T= (p.Tyr341=) | |
1 | g.68431323A>C | CA340742505 | RPE65 | c.1297T>G (p.Tyr433Asp) c.1021T>G (p.Tyr341Asp) | |
1 | g.68431323A>G | CA902214 | RPE65 | c.1297T>C (p.Tyr433His) c.1021T>C (p.Tyr341His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68431323A>T | CA902213 | RPE65 | c.1297T>A (p.Tyr433Asn) c.1021T>A (p.Tyr341Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68431324T>A | CA418277753 | RPE65 | c.1296A>T (p.Thr432=) c.1020A>T (p.Thr340=) | |
1 | g.68431324T>C | CA418277754 | RPE65 | c.1296A>G (p.Thr432=) c.1020A>G (p.Thr340=) | |
1 | g.68431324T>G | CA418277757 | RPE65 | c.1296A>C (p.Thr432=) c.1020A>C (p.Thr340=) | |
1 | g.68431325G>A | CA340742509 | RPE65 | c.1295C>T (p.Thr432Ile) c.1019C>T (p.Thr340Ile) | dbSNP gnomAD v4 |
1 | g.68431325G>C | CA340742512 | RPE65 | c.1295C>G (p.Thr432Arg) c.1019C>G (p.Thr340Arg) | |
1 | g.68431325G= | CA1173557998 | RPE65 | c.1295C= (p.Thr432=) c.1019C= (p.Thr340=) | |
1 | g.68431325G>T | CA340742511 | RPE65 | c.1295C>A (p.Thr432Lys) c.1019C>A (p.Thr340Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68431326T>A | CA340742515 | RPE65 | c.1294A>T (p.Thr432Ser) c.1018A>T (p.Thr340Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.68431326T>C | CA340742517 | RPE65 | c.1294A>G (p.Thr432Ala) c.1018A>G (p.Thr340Ala) | |
1 | g.68431326T>G | CA340742518 | RPE65 | c.1294A>C (p.Thr432Pro) c.1018A>C (p.Thr340Pro) | ClinVar dbSNP |
1 | g.68431326T= | CA1173557999 | RPE65 | c.1294A= (p.Thr432=) c.1018A= (p.Thr340=) | |
1 | g.68431327G>A | CA418277761 | RPE65 | c.1293C>T (p.Tyr431=) c.1017C>T (p.Tyr339=) | |
1 | g.68431327G>C | CA340742520 | RPE65 | c.1293C>G (p.Tyr431Ter) c.1017C>G (p.Tyr339Ter) | |
1 | g.68431327G= | CA1173558000 | RPE65 | c.1293C= (p.Tyr431=) c.1017C= (p.Tyr339=) | |
1 | g.68431327G>T | CA340742522 | RPE65 | c.1293C>A (p.Tyr431Ter) c.1017C>A (p.Tyr339Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.68431328T>A | CA340742524 | RPE65 | c.1292A>T (p.Tyr431Phe) c.1016A>T (p.Tyr339Phe) | |
1 | g.68431328T>C | CA226500 | RPE65 | c.1292A>G (p.Tyr431Cys) c.1016A>G (p.Tyr339Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68431328T>G | CA340742527 | RPE65 | c.1292A>C (p.Tyr431Ser) c.1016A>C (p.Tyr339Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68431328T= | CA1140762641 | RPE65 | c.1292A= (p.Tyr431=) c.1016A= (p.Tyr339=) | |
1 | g.68431329A= | CA1173558001 | RPE65 | c.1291T= (p.Tyr431=) c.1015T= (p.Tyr339=) | |
1 | g.68431329A>C | CA340742529 | RPE65 | c.1291T>G (p.Tyr431Asp) c.1015T>G (p.Tyr339Asp) | |
1 | g.68431329A>G | CA23564019 | RPE65 | c.1291T>C (p.Tyr431His) c.1015T>C (p.Tyr339His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431329A>T | CA340742532 | RPE65 | c.1291T>A (p.Tyr431Asn) c.1015T>A (p.Tyr339Asn) | |
1 | g.68431330A= | CA1173558002 | RPE65 | c.1290T= (p.Pro430=) c.1014T= (p.Pro338=) | |
1 | g.68431330A>C | CA418277769 | RPE65 | c.1290T>G (p.Pro430=) c.1014T>G (p.Pro338=) | |
1 | g.68431330A>G | CA23564021 | RPE65 | c.1290T>C (p.Pro430=) c.1014T>C (p.Pro338=) | dbSNP |
1 | g.68431330A>T | CA418277771 | RPE65 | c.1290T>A (p.Pro430=) c.1014T>A (p.Pro338=) | |
1 | g.68431331G>A | CA340742535 | RPE65 | c.1289C>T (p.Pro430Leu) c.1013C>T (p.Pro338Leu) | |
1 | g.68431331G>C | CA340742537 | RPE65 | c.1289C>G (p.Pro430Arg) c.1013C>G (p.Pro338Arg) | COSMIC |
1 | g.68431331G= | CA1173558003 | RPE65 | c.1289C= (p.Pro430=) c.1013C= (p.Pro338=) | |
1 | g.68431331G>T | CA902215 | RPE65 | c.1289C>A (p.Pro430His) c.1013C>A (p.Pro338His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.68431332G>A | CA902216 | RPE65 | c.1288C>T (p.Pro430Ser) c.1012C>T (p.Pro338Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68431332G>C | CA340742540 | RPE65 | c.1288C>G (p.Pro430Ala) c.1012C>G (p.Pro338Ala) | |
1 | g.68431332G= | CA1173558004 | RPE65 | c.1288C= (p.Pro430=) c.1012C= (p.Pro338=) | |
1 | g.68431332G>T | CA340742541 | RPE65 | c.1288C>A (p.Pro430Thr) c.1012C>A (p.Pro338Thr) | gnomAD v4 |
1 | g.68431333T>A | CA340742543 | RPE65 | c.1287A>T (p.Lys429Asn) c.1011A>T (p.Lys337Asn) | |
1 | g.68431333T>C | CA418277778 | RPE65 | c.1287A>G (p.Lys429=) c.1011A>G (p.Lys337=) | |
1 | g.68431333T>G | CA340742545 | RPE65 | c.1287A>C (p.Lys429Asn) c.1011A>C (p.Lys337Asn) | |
1 | g.68431334T>A | CA340742547 | RPE65 | c.1286A>T (p.Lys429Ile) c.1010A>T (p.Lys337Ile) | |
1 | g.68431334T>C | CA340742548 | RPE65 | c.1286A>G (p.Lys429Arg) c.1010A>G (p.Lys337Arg) | |
1 | g.68431334T>G | CA340742550 | RPE65 | c.1286A>C (p.Lys429Thr) c.1010A>C (p.Lys337Thr) | |
1 | g.68431335T>A | CA340742552 | RPE65 | c.1285A>T (p.Lys429Ter) c.1009A>T (p.Lys337Ter) | |
1 | g.68431335T>C | CA340742553 | RPE65 | c.1285A>G (p.Lys429Glu) c.1009A>G (p.Lys337Glu) | |
1 | g.68431335T>G | CA340742555 | RPE65 | c.1285A>C (p.Lys429Gln) c.1009A>C (p.Lys337Gln) | |
1 | g.68431336C>A | CA418277784 | RPE65 | c.1284G>T (p.Gly428=) c.1008G>T (p.Gly336=) | gnomAD v4 |
1 | g.68431336C>G | CA418277786 | RPE65 | c.1284G>C (p.Gly428=) c.1008G>C (p.Gly336=) | |
1 | g.68431336C>T | CA418277787 | RPE65 | c.1284G>A (p.Gly428=) c.1008G>A (p.Gly336=) | |
1 | g.68431337C>A | CA340742560 | RPE65 | c.1283G>T (p.Gly428Val) c.1007G>T (p.Gly336Val) | |
1 | g.68431337C>G | CA340742558 | RPE65 | c.1283G>C (p.Gly428Ala) c.1007G>C (p.Gly336Ala) | |
1 | g.68431337C>T | CA340742557 | RPE65 | c.1283G>A (p.Gly428Glu) c.1007G>A (p.Gly336Glu) | |
1 | g.68431338C>A | CA340742562 | RPE65 | c.1282G>T (p.Gly428Trp) c.1006G>T (p.Gly336Trp) | ClinVar dbSNP |
1 | g.68431338C>G | CA340742563 | RPE65 | c.1282G>C (p.Gly428Arg) c.1006G>C (p.Gly336Arg) | |
1 | g.68431338C>T | CA340742565 | RPE65 | c.1282G>A (p.Gly428Arg) c.1006G>A (p.Gly336Arg) | |
1 | g.68431339A= | CA1144145618 | RPE65 | c.1281T= (p.Cys427=) c.1005T= (p.Cys335=) | |
1 | g.68431339A>C | CA340742566 | RPE65 | c.1281T>G (p.Cys427Trp) c.1005T>G (p.Cys335Trp) | gnomAD v4 |
1 | g.68431339A>G | CA902217 | RPE65 | c.1281T>C (p.Cys427=) c.1005T>C (p.Cys335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68431339A>T | CA340742568 | RPE65 | c.1281T>A (p.Cys427Ter) c.1005T>A (p.Cys335Ter) | |
1 | g.68431340C>A | CA340742571 | RPE65 | c.1280G>T (p.Cys427Phe) c.1004G>T (p.Cys335Phe) | |
1 | g.68431340C>G | CA340742573 | RPE65 | c.1280G>C (p.Cys427Ser) c.1004G>C (p.Cys335Ser) | |
1 | g.68431340C>T | CA340742574 | RPE65 | c.1280G>A (p.Cys427Tyr) c.1004G>A (p.Cys335Tyr) | |
1 | g.68431341A= | CA1173558005 | RPE65 | c.1279T= (p.Cys427=) c.1003T= (p.Cys335=) | |
1 | g.68431341A>C | CA340742576 | RPE65 | c.1279T>G (p.Cys427Gly) c.1003T>G (p.Cys335Gly) | dbSNP |
1 | g.68431341A>G | CA340742578 | RPE65 | c.1279T>C (p.Cys427Arg) c.1003T>C (p.Cys335Arg) | dbSNP gnomAD v4 |
1 | g.68431341A>T | CA340742579 | RPE65 | c.1279T>A (p.Cys427Ser) c.1003T>A (p.Cys335Ser) | |
1 | g.68431342A>C | CA340742581 | RPE65 | c.1278T>G (p.Tyr426Ter) c.1002T>G (p.Tyr334Ter) | |
1 | g.68431342A>G | CA418277795 | RPE65 | c.1278T>C (p.Tyr426=) c.1002T>C (p.Tyr334=) | ClinVar gnomAD v4 |
1 | g.68431342A>T | CA340742582 | RPE65 | c.1278T>A (p.Tyr426Ter) c.1002T>A (p.Tyr334Ter) | gnomAD v4 |
1 | g.68431343T>A | CA340742585 | RPE65 | c.1277A>T (p.Tyr426Phe) c.1001A>T (p.Tyr334Phe) | |
1 | g.68431343T>C | CA340742588 | RPE65 | c.1277A>G (p.Tyr426Cys) c.1001A>G (p.Tyr334Cys) | |
1 | g.68431343T>G | CA340742587 | RPE65 | c.1277A>C (p.Tyr426Ser) c.1001A>C (p.Tyr334Ser) | |
1 | g.68431344A>C | CA340742591 | RPE65 | c.1276T>G (p.Tyr426Asp) c.1000T>G (p.Tyr334Asp) | |
1 | g.68431344A>G | CA340742592 | RPE65 | c.1276T>C (p.Tyr426His) c.1000T>C (p.Tyr334His) | |
1 | g.68431344A>T | CA340742593 | RPE65 | c.1276T>A (p.Tyr426Asn) c.1000T>A (p.Tyr334Asn) | |
1 | g.68431345C>A | CA340742594 | RPE65 | c.1275G>T (p.Lys425Asn) c.999G>T (p.Lys333Asn) | |
1 | g.68431345C>G | CA340742596 | RPE65 | c.1275G>C (p.Lys425Asn) c.999G>C (p.Lys333Asn) | |
1 | g.68431345C>T | CA418277802 | RPE65 | c.1275G>A (p.Lys425=) c.999G>A (p.Lys333=) | |
1 | g.68431346T>A | CA340742598 | RPE65 | c.1274A>T (p.Lys425Met) c.998A>T (p.Lys333Met) | dbSNP gnomAD v2 |
1 | g.68431346T>C | CA902218 | RPE65 | c.1274A>G (p.Lys425Arg) c.998A>G (p.Lys333Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68431346T>G | CA340742599 | RPE65 | c.1274A>C (p.Lys425Thr) c.998A>C (p.Lys333Thr) | |
1 | g.68431346T= | CA1173558006 | RPE65 | c.1274A= (p.Lys425=) c.998A= (p.Lys333=) | |
1 | g.68431347T>A | CA340742601 | RPE65 | c.1273A>T (p.Lys425Ter) c.997A>T (p.Lys333Ter) | |
1 | g.68431347T>C | CA340742603 | RPE65 | c.1273A>G (p.Lys425Glu) c.997A>G (p.Lys333Glu) | |
1 | g.68431347T>G | CA340742605 | RPE65 | c.1273A>C (p.Lys425Gln) c.997A>C (p.Lys333Gln) | |
1 | g.68431348C>A | CA340742609 | RPE65 | c.1272G>T (p.Gln424His) c.996G>T (p.Gln332His) | |
1 | g.68431348C>G | CA340742607 | RPE65 | c.1272G>C (p.Gln424His) c.996G>C (p.Gln332His) | |
1 | g.68431348C>T | CA418277810 | RPE65 | c.1272G>A (p.Gln424=) c.996G>A (p.Gln332=) | |
1 | g.68431349T>A | CA340742611 | RPE65 | c.1271A>T (p.Gln424Leu) c.995A>T (p.Gln332Leu) | |
1 | g.68431349T>C | CA340742612 | RPE65 | c.1271A>G (p.Gln424Arg) c.995A>G (p.Gln332Arg) | dbSNP gnomAD v4 |
1 | g.68431349T>G | CA902219 | RPE65 | c.1271A>C (p.Gln424Pro) c.995A>C (p.Gln332Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431349T= | CA1173558007 | RPE65 | c.1271A= (p.Gln424=) c.995A= (p.Gln332=) | |
1 | g.68431349_68431350delinsTG | CA1173558008 | RPE65 | c.1270_1271delinsCA (p.Gln424=) c.994_995delinsCA (p.Gln332=) | |
1 | g.68431350G>A | CA340742614 | RPE65 | c.1270C>T (p.Gln424Ter) c.994C>T (p.Gln332Ter) | COSMIC |
1 | g.68431350G>C | CA340742615 | RPE65 | c.1270C>G (p.Gln424Glu) c.994C>G (p.Gln332Glu) | gnomAD v4 |
1 | g.68431350G>T | CA340742617 | RPE65 | c.1270C>A (p.Gln424Lys) c.994C>A (p.Gln332Lys) | |
1 | g.68431351del | CA1173558009 | RPE65 | c.1270del (p.Gln424ArgfsTer16) c.994del (p.Gln332ArgfsTer16) | |
1 | g.68431351G>A | CA418277816 | RPE65 | c.1269C>T (p.Tyr423=) c.993C>T (p.Tyr331=) | ClinVar dbSNP |
1 | g.68431351G>C | CA340742619 | RPE65 | c.1269C>G (p.Tyr423Ter) c.993C>G (p.Tyr331Ter) | |
1 | g.68431351G= | CA1173558010 | RPE65 | c.1269C= (p.Tyr423=) c.993C= (p.Tyr331=) | |
1 | g.68431351G>T | CA340742621 | RPE65 | c.1269C>A (p.Tyr423Ter) c.993C>A (p.Tyr331Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68431352T>A | CA340742623 | RPE65 | c.1268A>T (p.Tyr423Phe) c.992A>T (p.Tyr331Phe) | |
1 | g.68431352T>C | CA340742624 | RPE65 | c.1268A>G (p.Tyr423Cys) c.992A>G (p.Tyr331Cys) | gnomAD v4 |
1 | g.68431352T>G | CA340742626 | RPE65 | c.1268A>C (p.Tyr423Ser) c.992A>C (p.Tyr331Ser) | |
1 | g.68431353A>C | CA340742630 | RPE65 | c.1267T>G (p.Tyr423Asp) c.991T>G (p.Tyr331Asp) | |
1 | g.68431353A>G | CA340742632 | RPE65 | c.1267T>C (p.Tyr423His) c.991T>C (p.Tyr331His) | |
1 | g.68431353A>T | CA340742628 | RPE65 | c.1267T>A (p.Tyr423Asn) c.991T>A (p.Tyr331Asn) | |
1 | g.68431354A>C | CA340742633 | RPE65 | c.1266T>G (p.Asn422Lys) c.990T>G (p.Asn330Lys) | |
1 | g.68431354A>G | CA418277824 | RPE65 | c.1266T>C (p.Asn422=) c.990T>C (p.Asn330=) | |
1 | g.68431354A>T | CA340742635 | RPE65 | c.1266T>A (p.Asn422Lys) c.990T>A (p.Asn330Lys) | |
1 | g.68431355T>A | CA340742637 | RPE65 | c.1265A>T (p.Asn422Ile) c.989A>T (p.Asn330Ile) | |
1 | g.68431355T>C | CA902220 | RPE65 | c.1265A>G (p.Asn422Ser) c.989A>G (p.Asn330Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68431355T>G | CA340742639 | RPE65 | c.1265A>C (p.Asn422Thr) c.989A>C (p.Asn330Thr) | |
1 | g.68431355T= | CA1173558011 | RPE65 | c.1265A= (p.Asn422=) c.989A= (p.Asn330=) | |
1 | g.68431356T>A | CA340742640 | RPE65 | c.1264A>T (p.Asn422Tyr) c.988A>T (p.Asn330Tyr) | |
1 | g.68431356T>C | CA340742641 | RPE65 | c.1264A>G (p.Asn422Asp) c.988A>G (p.Asn330Asp) | |
1 | g.68431356T>G | CA340742643 | RPE65 | c.1264A>C (p.Asn422His) c.988A>C (p.Asn330His) | gnomAD v4 |
1 | g.68431357G>A | CA418277830 | RPE65 | c.1263C>T (p.Ile421=) c.987C>T (p.Ile329=) | |
1 | g.68431357G>C | CA340742645 | RPE65 | c.1263C>G (p.Ile421Met) c.987C>G (p.Ile329Met) | |
1 | g.68431357G>T | CA418277833 | RPE65 | c.1263C>A (p.Ile421=) c.987C>A (p.Ile329=) | |
1 | g.68431358A>C | CA340742647 | RPE65 | c.1262T>G (p.Ile421Ser) c.986T>G (p.Ile329Ser) | |
1 | g.68431358A>G | CA340742648 | RPE65 | c.1262T>C (p.Ile421Thr) c.986T>C (p.Ile329Thr) | |
1 | g.68431358A>T | CA340742650 | RPE65 | c.1262T>A (p.Ile421Asn) c.986T>A (p.Ile329Asn) | |
1 | g.68431359T>A | CA340742654 | RPE65 | c.1261A>T (p.Ile421Phe) c.985A>T (p.Ile329Phe) | |
1 | g.68431359T>C | CA340742655 | RPE65 | c.1261A>G (p.Ile421Val) c.985A>G (p.Ile329Val) | |
1 | g.68431359T>G | CA340742652 | RPE65 | c.1261A>C (p.Ile421Leu) c.985A>C (p.Ile329Leu) | |
1 | g.68431360T>A | CA340742657 | RPE65 | c.1260A>T (p.Gln420His) c.984A>T (p.Gln328His) | |
1 | g.68431360T>C | CA418277839 | RPE65 | c.1260A>G (p.Gln420=) c.984A>G (p.Gln328=) | |
1 | g.68431360T>G | CA340742658 | RPE65 | c.1260A>C (p.Gln420His) c.984A>C (p.Gln328His) | dbSNP |
1 | g.68431360T= | CA1173558012 | RPE65 | c.1260A= (p.Gln420=) c.984A= (p.Gln328=) | |
1 | g.68431361T>A | CA902221 | RPE65 | c.1259A>T (p.Gln420Leu) c.983A>T (p.Gln328Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68431361T>C | CA340742659 | RPE65 | c.1259A>G (p.Gln420Arg) c.983A>G (p.Gln328Arg) | |
1 | g.68431361T>G | CA340742660 | RPE65 | c.1259A>C (p.Gln420Pro) c.983A>C (p.Gln328Pro) | |
1 | g.68431361T= | CA1173558013 | RPE65 | c.1259A= (p.Gln420=) c.983A= (p.Gln328=) |