Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68444479_68444483del | CA2646150281 | RPE65 | c.495+49_495+53del (n.495+49_495+53del) c.219+49_219+53del (n.219+49_219+53del) | gnomAD v4 |
1 | g.68444482del | CA2646150282 | RPE65 | c.495+52del (n.495+52del) c.219+52del (n.219+52del) | gnomAD v4 |
1 | g.68444484_68444485delinsAG | CA1173563357 | RPE65 | c.495+46_495+47delinsCT (n.495+46_495+47delinsCT) c.219+46_219+47delinsCT (n.219+46_219+47delinsCT) | |
1 | g.68444485del | CA738204438 | RPE65 | c.495+46del (n.495+46del) c.219+46del (n.219+46del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444485G>A | CA902490 | RPE65 | c.495+46C>T (n.495+46C>T) c.219+46C>T (n.219+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444485G= | CA1173563358 | RPE65 | c.495+46C= (n.495+46C=) c.219+46C= (n.219+46C=) | |
1 | g.68444487T>C | CA646102794 | RPE65 | c.495+44A>G (n.495+44A>G) c.219+44A>G (n.219+44A>G) | COSMIC |
1 | g.68444488C>A | CA2841082720 | RPE65 | c.495+43G>T (n.495+43G>T) c.219+43G>T (n.219+43G>T) | |
1 | g.68444489C= | CA1173563360 | RPE65 | c.495+42G= (n.495+42G=) c.219+42G= (n.219+42G=) | |
1 | g.68444489C>T | CA523301766 | RPE65 | c.495+42G>A (n.495+42G>A) c.219+42G>A (n.219+42G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444489_68444490delinsCA | CA1173563359 | RPE65 | c.495+41_495+42delinsTG (n.495+41_495+42delinsTG) c.219+41_219+42delinsTG (n.219+41_219+42delinsTG) | |
1 | g.68444492del | CA902491 | RPE65 | c.495+41del (n.495+41del) c.219+41del (n.219+41del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444491A= | CA1173563361 | RPE65 | c.495+40T= (n.495+40T=) c.219+40T= (n.219+40T=) | |
1 | g.68444491A>T | CA902492 | RPE65 | c.495+40T>A (n.495+40T>A) c.219+40T>A (n.219+40T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444492A>G | CA2646150284 | RPE65 | c.495+39T>C (n.495+39T>C) c.219+39T>C (n.219+39T>C) | gnomAD v4 |
1 | g.68444495C>G | CA646102795 | RPE65 | c.495+36G>C (n.495+36G>C) c.219+36G>C (n.219+36G>C) | COSMIC |
1 | g.68444496T>G | CA902493 | RPE65 | c.495+35A>C (n.495+35A>C) c.219+35A>C (n.219+35A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444496T= | CA1144124900 | RPE65 | c.495+35A= (n.495+35A=) c.219+35A= (n.219+35A=) | |
1 | g.68444499A>G | CA2646150285 | RPE65 | c.495+32T>C (n.495+32T>C) c.219+32T>C (n.219+32T>C) | gnomAD v4 |
1 | g.68444500T>C | CA1002832746 | RPE65 | c.495+31A>G (n.495+31A>G) c.219+31A>G (n.219+31A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444500T= | CA1173563362 | RPE65 | c.495+31A= (n.495+31A=) c.219+31A= (n.219+31A=) | |
1 | g.68444502C= | CA1173563363 | RPE65 | c.495+29G= (n.495+29G=) c.219+29G= (n.219+29G=) | |
1 | g.68444502C>T | CA1002832748 | RPE65 | c.495+29G>A (n.495+29G>A) c.219+29G>A (n.219+29G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444504T>C | CA1173563364 | RPE65 | c.495+27A>G (n.495+27A>G) c.219+27A>G (n.219+27A>G) | dbSNP |
1 | g.68444504T>G | CA902494 | RPE65 | c.495+27A>C (n.495+27A>C) c.219+27A>C (n.219+27A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444504T= | CA1143822516 | RPE65 | c.495+27A= (n.495+27A=) c.219+27A= (n.219+27A=) | |
1 | g.68444505G>A | CA2744001069 | RPE65 | c.495+26C>T (n.495+26C>T) c.219+26C>T (n.219+26C>T) | |
1 | g.68444508C>T | CA2646150286 | RPE65 | c.495+23G>A (n.495+23G>A) c.219+23G>A (n.219+23G>A) | dbSNP gnomAD v4 |
1 | g.68444509A>G | CA2646150287 | RPE65 | c.495+22T>C (n.495+22T>C) c.219+22T>C (n.219+22T>C) | gnomAD v4 |
1 | g.68444510T>C | CA523301770 | RPE65 | c.495+21A>G (n.495+21A>G) c.219+21A>G (n.219+21A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444510T= | CA1173563365 | RPE65 | c.495+21A= (n.495+21A=) c.219+21A= (n.219+21A=) | |
1 | g.68444511C= | CA1173563366 | RPE65 | c.495+20G= (n.495+20G=) c.219+20G= (n.219+20G=) | |
1 | g.68444511C>T | CA1173563367 | RPE65 | c.495+20G>A (n.495+20G>A) c.219+20G>A (n.219+20G>A) | dbSNP |
1 | g.68444512A>C | CA2574402989 | RPE65 | c.495+19T>G (n.495+19T>G) c.219+19T>G (n.219+19T>G) | |
1 | g.68444512A>G | CA2646150288 | RPE65 | c.495+19T>C (n.495+19T>C) c.219+19T>C (n.219+19T>C) | gnomAD v4 |
1 | g.68444512A>T | CA2574402988 | RPE65 | c.495+19T>A (n.495+19T>A) c.219+19T>A (n.219+19T>A) | |
1 | g.68444513C= | CA1144177214 | RPE65 | c.495+18G= (n.495+18G=) c.219+18G= (n.219+18G=) | |
1 | g.68444513C>T | CA902495 | RPE65 | c.495+18G>A (n.495+18G>A) c.219+18G>A (n.219+18G>A) | dbSNP ExAC gnomAD v2 |
1 | g.68444514C= | CA1173563368 | RPE65 | c.495+17G= (n.495+17G=) c.219+17G= (n.219+17G=) | |
1 | g.68444514C>T | CA738204448 | RPE65 | c.495+17G>A (n.495+17G>A) c.219+17G>A (n.219+17G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444516A= | CA1173563369 | RPE65 | c.495+15T= (n.495+15T=) c.219+15T= (n.219+15T=) | |
1 | g.68444516A>G | CA1173563370 | RPE65 | c.495+15T>C (n.495+15T>C) c.219+15T>C (n.219+15T>C) | dbSNP |
1 | g.68444517_68444527delinsGCACTGTGTCC | CA1173563371 | RPE65 | c.495+4_495+14delinsGGACACAGTGC (n.495+4_495+14delinsGGACACAGTGC) c.219+4_219+14delinsGGACACAGTGC (n.219+4_219+14delinsGGACACAGTGC) | |
1 | g.68444518C>T | CA2740090752 | RPE65 | c.495+13G>A (n.495+13G>A) c.219+13G>A (n.219+13G>A) | ClinVar |
1 | g.68444521_68444530del | CA902496 | RPE65 | c.495+4_495+13del (n.495+4_495+13del) c.219+4_219+13del (n.219+4_219+13del) | dbSNP ExAC gnomAD v2 |
1 | g.68444519A>C | CA2744001072 | RPE65 | c.495+12T>G (n.495+12T>G) c.219+12T>G (n.219+12T>G) | |
1 | g.68444519A>G | CA2580063205 | RPE65 | c.495+12T>C (n.495+12T>C) c.219+12T>C (n.219+12T>C) | ClinVar |
1 | g.68444521T>C | CA738204451 | RPE65 | c.495+10A>G (n.495+10A>G) c.219+10A>G (n.219+10A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444521T= | CA1173563372 | RPE65 | c.495+10A= (n.495+10A=) c.219+10A= (n.219+10A=) | |
1 | g.68444522dup | CA2744001073 | RPE65 | c.495+9dup (n.495+9dup) c.219+9dup (n.219+9dup) | |
1 | g.68444523T>A | CA902497 | RPE65 | c.495+8A>T (n.495+8A>T) c.219+8A>T (n.219+8A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444523T>C | CA2573131980 | RPE65 | c.495+8A>G (n.495+8A>G) c.219+8A>G (n.219+8A>G) | ClinVar dbSNP |
1 | g.68444523T= | CA1173563373 | RPE65 | c.495+8A= (n.495+8A=) c.219+8A= (n.219+8A=) | |
1 | g.68444524G>A | CA2580063206 | RPE65 | c.495+7C>T (n.495+7C>T) c.219+7C>T (n.219+7C>T) | ClinVar |
1 | g.68444526C>A | CA2744001074 | RPE65 | c.495+5G>T (n.495+5G>T) c.219+5G>T (n.219+5G>T) | |
1 | g.68444526C>G | CA2586966743 | RPE65 | c.495+5G>C (n.495+5G>C) c.219+5G>C (n.219+5G>C) | |
1 | g.68444527C>T | CA2646150290 | RPE65 | c.495+4G>A (n.495+4G>A) c.219+4G>A (n.219+4G>A) | gnomAD v4 |
1 | g.68444528C= | CA1173563374 | RPE65 | c.495+3G= (n.495+3G=) c.219+3G= (n.219+3G=) | |
1 | g.68444528C>T | CA523301776 | RPE65 | c.495+3G>A (n.495+3G>A) c.219+3G>A (n.219+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444529A= | CA1173563375 | RPE65 | c.495+2T= (n.495+2T=) c.219+2T= (n.219+2T=) | |
1 | g.68444529A>C | CA340747314 | RPE65 | c.495+2T>G (n.495+2T>G) c.219+2T>G (n.219+2T>G) | |
1 | g.68444529A>G | CA340747310 | RPE65 | c.495+2T>C (n.495+2T>C) c.219+2T>C (n.219+2T>C) | |
1 | g.68444529A>T | CA340747312 | RPE65 | c.495+2T>A (n.495+2T>A) c.219+2T>A (n.219+2T>A) | |
1 | g.68444530C>A | CA340747317 | RPE65 | c.495+1G>T (n.495+1G>T) c.219+1G>T (n.219+1G>T) | dbSNP |
1 | g.68444530C= | CA1173563376 | RPE65 | c.495+1G= (n.495+1G=) c.219+1G= (n.219+1G=) | |
1 | g.68444530C>G | CA340747321 | RPE65 | c.495+1G>C (n.495+1G>C) c.219+1G>C (n.219+1G>C) | |
1 | g.68444530C>T | CA340747323 | RPE65 | c.495+1G>A (n.495+1G>A) c.219+1G>A (n.219+1G>A) | |
1 | g.68444530_68444531delinsCC | CA1143538038 | RPE65 | c.495_495+1delinsGG c.219_219+1delinsGG | |
1 | g.68444531dup | CA226556 | RPE65 | c.495+1dup c.219+1dup | ClinVar dbSNP |
1 | g.68444531C>A | CA340747329 | RPE65 | c.495G>T (p.Gln165His) c.219G>T (p.Gln73His) | |
1 | g.68444531C= | CA1173563377 | RPE65 | c.495G= (p.Gln165=) c.219G= (p.Gln73=) | |
1 | g.68444531C>G | CA340747332 | RPE65 | c.495G>C (p.Gln165His) c.219G>C (p.Gln73His) | |
1 | g.68444531C>T | CA418282673 | RPE65 | c.495G>A (p.Gln165=) c.219G>A (p.Gln73=) | dbSNP |
1 | g.68444532T>A | CA902498 | RPE65 | c.494A>T (p.Gln165Leu) c.218A>T (p.Gln73Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444532T>C | CA340747336 | RPE65 | c.494A>G (p.Gln165Arg) c.218A>G (p.Gln73Arg) | |
1 | g.68444532T>G | CA340747338 | RPE65 | c.494A>C (p.Gln165Pro) c.218A>C (p.Gln73Pro) | |
1 | g.68444532T= | CA1148227414 | RPE65 | c.494A= (p.Gln165=) c.218A= (p.Gln73=) | |
1 | g.68444533G>A | CA340747340 | RPE65 | c.493C>T (p.Gln165Ter) c.217C>T (p.Gln73Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444533G>C | CA340747343 | RPE65 | c.493C>G (p.Gln165Glu) c.217C>G (p.Gln73Glu) | |
1 | g.68444533G= | CA1173563378 | RPE65 | c.493C= (p.Gln165=) c.217C= (p.Gln73=) | |
1 | g.68444533G>T | CA340747345 | RPE65 | c.493C>A (p.Gln165Lys) c.217C>A (p.Gln73Lys) | |
1 | g.68444534C>A | CA340747349 | RPE65 | c.492G>T (p.Lys164Asn) c.216G>T (p.Lys72Asn) | |
1 | g.68444534C>G | CA340747347 | RPE65 | c.492G>C (p.Lys164Asn) c.216G>C (p.Lys72Asn) | |
1 | g.68444534C>T | CA418282674 | RPE65 | c.492G>A (p.Lys164=) c.216G>A (p.Lys72=) | |
1 | g.68444535T>A | CA340747351 | RPE65 | c.491A>T (p.Lys164Met) c.215A>T (p.Lys72Met) | |
1 | g.68444535T>C | CA340747354 | RPE65 | c.491A>G (p.Lys164Arg) c.215A>G (p.Lys72Arg) | gnomAD v4 |
1 | g.68444535T>G | CA340747357 | RPE65 | c.491A>C (p.Lys164Thr) c.215A>C (p.Lys72Thr) | dbSNP |
1 | g.68444535T= | CA1173563379 | RPE65 | c.491A= (p.Lys164=) c.215A= (p.Lys72=) | |
1 | g.68444536T>A | CA340747360 | RPE65 | c.490A>T (p.Lys164Ter) c.214A>T (p.Lys72Ter) | |
1 | g.68444536T>C | CA340747363 | RPE65 | c.490A>G (p.Lys164Glu) c.214A>G (p.Lys72Glu) | |
1 | g.68444536T>G | CA340747366 | RPE65 | c.490A>C (p.Lys164Gln) c.214A>C (p.Lys72Gln) | |
1 | g.68444537A>C | CA340747369 | RPE65 | c.489T>G (p.Ile163Met) c.213T>G (p.Ile71Met) | |
1 | g.68444537A>G | CA418282675 | RPE65 | c.489T>C (p.Ile163=) c.213T>C (p.Ile71=) | |
1 | g.68444537A>T | CA418282676 | RPE65 | c.489T>A (p.Ile163=) c.213T>A (p.Ile71=) | |
1 | g.68444538A>C | CA340747372 | RPE65 | c.488T>G (p.Ile163Ser) c.212T>G (p.Ile71Ser) | COSMIC |
1 | g.68444538A>G | CA340747374 | RPE65 | c.488T>C (p.Ile163Thr) c.212T>C (p.Ile71Thr) | |
1 | g.68444538A>T | CA340747377 | RPE65 | c.488T>A (p.Ile163Asn) c.212T>A (p.Ile71Asn) | |
1 | g.68444539T>A | CA340747380 | RPE65 | c.487A>T (p.Ile163Phe) c.211A>T (p.Ile71Phe) | |
1 | g.68444539T>C | CA340747383 | RPE65 | c.487A>G (p.Ile163Val) c.211A>G (p.Ile71Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444539T>G | CA340747386 | RPE65 | c.487A>C (p.Ile163Leu) c.211A>C (p.Ile71Leu) | |
1 | g.68444539T= | CA1173563380 | RPE65 | c.487A= (p.Ile163=) c.211A= (p.Ile71=) | |
1 | g.68444540T>A | CA418282677 | RPE65 | c.486A>T (p.Thr162=) c.210A>T (p.Thr70=) | gnomAD v4 |
1 | g.68444540T>C | CA418282678 | RPE65 | c.486A>G (p.Thr162=) c.210A>G (p.Thr70=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444540T>G | CA418282679 | RPE65 | c.486A>C (p.Thr162=) c.210A>C (p.Thr70=) | |
1 | g.68444540T= | CA1173563381 | RPE65 | c.486A= (p.Thr162=) c.210A= (p.Thr70=) | |
1 | g.68444541G>A | CA340747410 | RPE65 | c.485C>T (p.Thr162Ile) c.209C>T (p.Thr70Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.68444541G>C | CA340747399 | RPE65 | c.485C>G (p.Thr162Arg) c.209C>G (p.Thr70Arg) | |
1 | g.68444541G= | CA1173563382 | RPE65 | c.485C= (p.Thr162=) c.209C= (p.Thr70=) | |
1 | g.68444541G>T | CA340747407 | RPE65 | c.485C>A (p.Thr162Lys) c.209C>A (p.Thr70Lys) | |
1 | g.68444542T>A | CA340747413 | RPE65 | c.484A>T (p.Thr162Ser) c.208A>T (p.Thr70Ser) | gnomAD v4 |
1 | g.68444542T>C | CA340747416 | RPE65 | c.484A>G (p.Thr162Ala) c.208A>G (p.Thr70Ala) | |
1 | g.68444542T>G | CA902499 | RPE65 | c.484A>C (p.Thr162Pro) c.208A>C (p.Thr70Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444542T= | CA1173563383 | RPE65 | c.484A= (p.Thr162=) c.208A= (p.Thr70=) | |
1 | g.68444543C>A | CA340747421 | RPE65 | c.483G>T (p.Glu161Asp) c.207G>T (p.Glu69Asp) | |
1 | g.68444543C>G | CA340747422 | RPE65 | c.483G>C (p.Glu161Asp) c.207G>C (p.Glu69Asp) | |
1 | g.68444543C>T | CA418282680 | RPE65 | c.483G>A (p.Glu161=) c.207G>A (p.Glu69=) | dbSNP |
1 | g.68444544T>A | CA340747424 | RPE65 | c.482A>T (p.Glu161Val) c.206A>T (p.Glu69Val) | |
1 | g.68444544T>C | CA340747428 | RPE65 | c.482A>G (p.Glu161Gly) c.206A>G (p.Glu69Gly) | |
1 | g.68444544T>G | CA340747429 | RPE65 | c.482A>C (p.Glu161Ala) c.206A>C (p.Glu69Ala) | |
1 | g.68444545C>A | CA340747432 | RPE65 | c.481G>T (p.Glu161Ter) c.205G>T (p.Glu69Ter) | |
1 | g.68444545C>G | CA340747434 | RPE65 | c.481G>C (p.Glu161Gln) c.205G>C (p.Glu69Gln) | |
1 | g.68444545C>T | CA340747437 | RPE65 | c.481G>A (p.Glu161Lys) c.205G>A (p.Glu69Lys) | |
1 | g.68444546C>A | CA340747440 | RPE65 | c.480G>T (p.Leu160Phe) c.204G>T (p.Leu68Phe) | |
1 | g.68444546C= | CA1173563384 | RPE65 | c.480G= (p.Leu160=) c.204G= (p.Leu68=) | |
1 | g.68444546C>G | CA340747443 | RPE65 | c.480G>C (p.Leu160Phe) c.204G>C (p.Leu68Phe) | |
1 | g.68444546C>T | CA418282681 | RPE65 | c.480G>A (p.Leu160=) c.204G>A (p.Leu68=) | dbSNP COSMIC |
1 | g.68444547A>C | CA340747449 | RPE65 | c.479T>G (p.Leu160Trp) c.203T>G (p.Leu68Trp) | |
1 | g.68444547A>G | CA340747452 | RPE65 | c.479T>C (p.Leu160Ser) c.203T>C (p.Leu68Ser) | |
1 | g.68444547A>T | CA340747446 | RPE65 | c.479T>A (p.Leu160Ter) c.203T>A (p.Leu68Ter) | |
1 | g.68444548A>C | CA340747462 | RPE65 | c.478T>G (p.Leu160Val) c.202T>G (p.Leu68Val) | |
1 | g.68444548A>G | CA418282682 | RPE65 | c.478T>C (p.Leu160=) c.202T>C (p.Leu68=) | |
1 | g.68444548A>T | CA340747460 | RPE65 | c.478T>A (p.Leu160Met) c.202T>A (p.Leu68Met) | |
1 | g.68444549G>A | CA418282683 | RPE65 | c.477C>T (p.Thr159=) c.201C>T (p.Thr67=) | |
1 | g.68444549G>C | CA418282684 | RPE65 | c.477C>G (p.Thr159=) c.201C>G (p.Thr67=) | |
1 | g.68444549G>T | CA418282685 | RPE65 | c.477C>A (p.Thr159=) c.201C>A (p.Thr67=) | COSMIC |
1 | g.68444550G>A | CA340747481 | RPE65 | c.476C>T (p.Thr159Ile) c.200C>T (p.Thr67Ile) | dbSNP |
1 | g.68444550G>C | CA340747467 | RPE65 | c.476C>G (p.Thr159Ser) c.200C>G (p.Thr67Ser) | |
1 | g.68444550G= | CA1173563385 | RPE65 | c.476C= (p.Thr159=) c.200C= (p.Thr67=) | |
1 | g.68444550G>T | CA340747478 | RPE65 | c.476C>A (p.Thr159Asn) c.200C>A (p.Thr67Asn) | |
1 | g.68444551T>A | CA340747484 | RPE65 | c.475A>T (p.Thr159Ser) c.199A>T (p.Thr67Ser) | dbSNP gnomAD v4 |
1 | g.68444551T>C | CA340747487 | RPE65 | c.475A>G (p.Thr159Ala) c.199A>G (p.Thr67Ala) | |
1 | g.68444551T>G | CA340747490 | RPE65 | c.475A>C (p.Thr159Pro) c.199A>C (p.Thr67Pro) | |
1 | g.68444551T= | CA1173563386 | RPE65 | c.475A= (p.Thr159=) c.199A= (p.Thr67=) | |
1 | g.68444552C>A | CA340747499 | RPE65 | c.474G>T (p.Glu158Asp) c.198G>T (p.Glu66Asp) | |
1 | g.68444552C= | CA1173563387 | RPE65 | c.474G= (p.Glu158=) c.198G= (p.Glu66=) | |
1 | g.68444552C>G | CA340747500 | RPE65 | c.474G>C (p.Glu158Asp) c.198G>C (p.Glu66Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444552C>T | CA418282686 | RPE65 | c.474G>A (p.Glu158=) c.198G>A (p.Glu66=) | |
1 | g.68444553T>A | CA340747502 | RPE65 | c.473A>T (p.Glu158Val) c.197A>T (p.Glu66Val) | |
1 | g.68444553T>C | CA340747505 | RPE65 | c.473A>G (p.Glu158Gly) c.197A>G (p.Glu66Gly) | |
1 | g.68444553T>G | CA340747504 | RPE65 | c.473A>C (p.Glu158Ala) c.197A>C (p.Glu66Ala) | |
1 | g.68444554C>A | CA340747506 | RPE65 | c.472G>T (p.Glu158Ter) c.196G>T (p.Glu66Ter) | dbSNP |
1 | g.68444554C= | CA1173563388 | RPE65 | c.472G= (p.Glu158=) c.196G= (p.Glu66=) | |
1 | g.68444554C>G | CA23574724 | RPE65 | c.472G>C (p.Glu158Gln) c.196G>C (p.Glu66Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444554C>T | CA340747507 | RPE65 | c.472G>A (p.Glu158Lys) c.196G>A (p.Glu66Lys) | gnomAD v4 |
1 | g.68444555T>A | CA902500 | RPE65 | c.471A>T (p.Pro157=) c.195A>T (p.Pro65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444555T>C | CA418282687 | RPE65 | c.471A>G (p.Pro157=) c.195A>G (p.Pro65=) | |
1 | g.68444555T>G | CA418282688 | RPE65 | c.471A>C (p.Pro157=) c.195A>C (p.Pro65=) | |
1 | g.68444555T= | CA1173563389 | RPE65 | c.471A= (p.Pro157=) c.195A= (p.Pro65=) | |
1 | g.68444556G>A | CA340747510 | RPE65 | c.470C>T (p.Pro157Leu) c.194C>T (p.Pro65Leu) | |
1 | g.68444556G>C | CA340747516 | RPE65 | c.470C>G (p.Pro157Arg) c.194C>G (p.Pro65Arg) | dbSNP gnomAD v4 |
1 | g.68444556G= | CA1173563390 | RPE65 | c.470C= (p.Pro157=) c.194C= (p.Pro65=) | |
1 | g.68444556G>T | CA340747513 | RPE65 | c.470C>A (p.Pro157Gln) c.194C>A (p.Pro65Gln) | |
1 | g.68444557G>A | CA340747519 | RPE65 | c.469C>T (p.Pro157Ser) c.193C>T (p.Pro65Ser) | |
1 | g.68444557G>C | CA340747521 | RPE65 | c.469C>G (p.Pro157Ala) c.193C>G (p.Pro65Ala) | |
1 | g.68444557G>T | CA340747524 | RPE65 | c.469C>A (p.Pro157Thr) c.193C>A (p.Pro65Thr) | |
1 | g.68444558A>C | CA340747526 | RPE65 | c.468T>G (p.Asn156Lys) c.192T>G (p.Asn64Lys) | |
1 | g.68444558A>G | CA418282689 | RPE65 | c.468T>C (p.Asn156=) c.192T>C (p.Asn64=) | |
1 | g.68444558A>T | CA340747531 | RPE65 | c.468T>A (p.Asn156Lys) c.192T>A (p.Asn64Lys) | |
1 | g.68444559T>A | CA340747533 | RPE65 | c.467A>T (p.Asn156Ile) c.191A>T (p.Asn64Ile) | gnomAD v4 |
1 | g.68444559T>C | CA340747535 | RPE65 | c.467A>G (p.Asn156Ser) c.191A>G (p.Asn64Ser) | |
1 | g.68444559T>G | CA340747537 | RPE65 | c.467A>C (p.Asn156Thr) c.191A>C (p.Asn64Thr) | |
1 | g.68444560T>A | CA340747540 | RPE65 | c.466A>T (p.Asn156Tyr) c.190A>T (p.Asn64Tyr) | |
1 | g.68444560T>C | CA340747541 | RPE65 | c.466A>G (p.Asn156Asp) c.190A>G (p.Asn64Asp) | |
1 | g.68444560T>G | CA340747542 | RPE65 | c.466A>C (p.Asn156His) c.190A>C (p.Asn64His) | |
1 | g.68444561A>C | CA340747543 | RPE65 | c.465T>G (p.Ile155Met) c.189T>G (p.Ile63Met) | |
1 | g.68444561A>G | CA418282690 | RPE65 | c.465T>C (p.Ile155=) c.189T>C (p.Ile63=) | |
1 | g.68444561A>T | CA418282691 | RPE65 | c.465T>A (p.Ile155=) c.189T>A (p.Ile63=) | |
1 | g.68444562A= | CA1173563391 | RPE65 | c.464T= (p.Ile155=) c.188T= (p.Ile63=) | |
1 | g.68444562A>C | CA340747548 | RPE65 | c.464T>G (p.Ile155Ser) c.188T>G (p.Ile63Ser) | |
1 | g.68444562A>G | CA902501 | RPE65 | c.464T>C (p.Ile155Thr) c.188T>C (p.Ile63Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444562A>T | CA340747546 | RPE65 | c.464T>A (p.Ile155Asn) c.188T>A (p.Ile63Asn) | |
1 | g.68444563T>A | CA340747551 | RPE65 | c.463A>T (p.Ile155Phe) c.187A>T (p.Ile63Phe) | |
1 | g.68444563T>C | CA340747553 | RPE65 | c.463A>G (p.Ile155Val) c.187A>G (p.Ile63Val) | |
1 | g.68444563T>G | CA340747556 | RPE65 | c.463A>C (p.Ile155Leu) c.187A>C (p.Ile63Leu) | |
1 | g.68444564C>A | CA340747559 | RPE65 | c.462G>T (p.Lys154Asn) c.186G>T (p.Lys62Asn) | gnomAD v4 |
1 | g.68444564C>G | CA340747561 | RPE65 | c.462G>C (p.Lys154Asn) c.186G>C (p.Lys62Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.68444564C>T | CA418282692 | RPE65 | c.462G>A (p.Lys154=) c.186G>A (p.Lys62=) | |
1 | g.68444565T>A | CA340747564 | RPE65 | c.461A>T (p.Lys154Met) c.185A>T (p.Lys62Met) | |
1 | g.68444565T>C | CA340747569 | RPE65 | c.461A>G (p.Lys154Arg) c.185A>G (p.Lys62Arg) | COSMIC |
1 | g.68444565T>G | CA340747567 | RPE65 | c.461A>C (p.Lys154Thr) c.185A>C (p.Lys62Thr) | |
1 | g.68444567dup | CA2574402990 | RPE65 | c.461dup (p.Ile155AspfsTer2) c.185dup (p.Ile63AspfsTer2) | |
1 | g.68444567del | CA2837994671 | RPE65 | c.461del (p.Lys154ArgfsTer?) c.185del (p.Lys62ArgfsTer?) | |
1 | g.68444566T>A | CA340747571 | RPE65 | c.460A>T (p.Lys154Ter) c.184A>T (p.Lys62Ter) | |
1 | g.68444566T>C | CA340747581 | RPE65 | c.460A>G (p.Lys154Glu) c.184A>G (p.Lys62Glu) | |
1 | g.68444566T>G | CA340747582 | RPE65 | c.460A>C (p.Lys154Gln) c.184A>C (p.Lys62Gln) | |
1 | g.68444567T>A | CA418282693 | RPE65 | c.459A>T (p.Thr153=) c.183A>T (p.Thr61=) | |
1 | g.68444567T>C | CA902502 | RPE65 | c.459A>G (p.Thr153=) c.183A>G (p.Thr61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444567T>G | CA418282694 | RPE65 | c.459A>C (p.Thr153=) c.183A>C (p.Thr61=) | ClinVar |
1 | g.68444567T= | CA1173563392 | RPE65 | c.459A= (p.Thr153=) c.183A= (p.Thr61=) | |
1 | g.68444568G>A | CA340747583 | RPE65 | c.458C>T (p.Thr153Ile) c.182C>T (p.Thr61Ile) | COSMIC |
1 | g.68444568G>C | CA340747587 | RPE65 | c.458C>G (p.Thr153Arg) c.182C>G (p.Thr61Arg) | |
1 | g.68444568G>T | CA340747585 | RPE65 | c.458C>A (p.Thr153Lys) c.182C>A (p.Thr61Lys) | |
1 | g.68444569T>A | CA23574735 | RPE65 | c.457A>T (p.Thr153Ser) c.181A>T (p.Thr61Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68444569T>C | CA902503 | RPE65 | c.457A>G (p.Thr153Ala) c.181A>G (p.Thr61Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444569T>G | CA340747596 | RPE65 | c.457A>C (p.Thr153Pro) c.181A>C (p.Thr61Pro) | |
1 | g.68444569T= | CA1173563393 | RPE65 | c.457A= (p.Thr153=) c.181A= (p.Thr61=) | |
1 | g.68444570A= | CA1173563394 | RPE65 | c.456T= (p.Ile152=) c.180T= (p.Ile60=) | |
1 | g.68444570A>C | CA340747600 | RPE65 | c.456T>G (p.Ile152Met) c.180T>G (p.Ile60Met) | |
1 | g.68444570A>G | CA902504 | RPE65 | c.456T>C (p.Ile152=) c.180T>C (p.Ile60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444570A>T | CA418282695 | RPE65 | c.456T>A (p.Ile152=) c.180T>A (p.Ile60=) | |
1 | g.68444571A>C | CA340747606 | RPE65 | c.455T>G (p.Ile152Ser) c.179T>G (p.Ile60Ser) | |
1 | g.68444571A>G | CA340747609 | RPE65 | c.455T>C (p.Ile152Thr) c.179T>C (p.Ile60Thr) | ClinVar |
1 | g.68444571A>T | CA340747610 | RPE65 | c.455T>A (p.Ile152Asn) c.179T>A (p.Ile60Asn) | |
1 | g.68444572T>A | CA340747613 | RPE65 | c.454A>T (p.Ile152Phe) c.178A>T (p.Ile60Phe) | |
1 | g.68444572T>C | CA340747615 | RPE65 | c.454A>G (p.Ile152Val) c.178A>G (p.Ile60Val) | dbSNP gnomAD v4 |
1 | g.68444572T>G | CA340747618 | RPE65 | c.454A>C (p.Ile152Leu) c.178A>C (p.Ile60Leu) | dbSNP gnomAD v4 |
1 | g.68444572T= | CA1173563395 | RPE65 | c.454A= (p.Ile152=) c.178A= (p.Ile60=) | |
1 | g.68444573A>C | CA340747625 | RPE65 | c.453T>G (p.Phe151Leu) c.177T>G (p.Phe59Leu) | |
1 | g.68444573A>G | CA418282696 | RPE65 | c.453T>C (p.Phe151=) c.177T>C (p.Phe59=) | |
1 | g.68444573A>T | CA340747622 | RPE65 | c.453T>A (p.Phe151Leu) c.177T>A (p.Phe59Leu) | |
1 | g.68444574A>C | CA340747627 | RPE65 | c.452T>G (p.Phe151Cys) c.176T>G (p.Phe59Cys) | |
1 | g.68444574A>G | CA340747630 | RPE65 | c.452T>C (p.Phe151Ser) c.176T>C (p.Phe59Ser) | |
1 | g.68444574A>T | CA340747632 | RPE65 | c.452T>A (p.Phe151Tyr) c.176T>A (p.Phe59Tyr) | gnomAD v4 |
1 | g.68444575A= | CA1173563396 | RPE65 | c.451T= (p.Phe151=) c.175T= (p.Phe59=) | |
1 | g.68444575A>C | CA340747635 | RPE65 | c.451T>G (p.Phe151Val) c.175T>G (p.Phe59Val) | |
1 | g.68444575A>G | CA340747636 | RPE65 | c.451T>C (p.Phe151Leu) c.175T>C (p.Phe59Leu) | dbSNP |
1 | g.68444575A>T | CA340747639 | RPE65 | c.451T>A (p.Phe151Ile) c.175T>A (p.Phe59Ile) | |
1 | g.68444576G>A | CA902505 | RPE65 | c.450C>T (p.Asn150=) c.174C>T (p.Asn58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444576G>C | CA340747645 | RPE65 | c.450C>G (p.Asn150Lys) c.174C>G (p.Asn58Lys) | |
1 | g.68444576G= | CA1143700994 | RPE65 | c.450C= (p.Asn150=) c.174C= (p.Asn58=) | |
1 | g.68444576G>T | CA340747642 | RPE65 | c.450C>A (p.Asn150Lys) c.174C>A (p.Asn58Lys) | gnomAD v4 |
1 | g.68444577T>A | CA340747650 | RPE65 | c.449A>T (p.Asn150Ile) c.173A>T (p.Asn58Ile) | COSMIC |
1 | g.68444577T>C | CA23574788 | RPE65 | c.449A>G (p.Asn150Ser) c.173A>G (p.Asn58Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444577T>G | CA340747654 | RPE65 | c.449A>C (p.Asn150Thr) c.173A>C (p.Asn58Thr) | |
1 | g.68444577T= | CA1173563397 | RPE65 | c.449A= (p.Asn150=) c.173A= (p.Asn58=) | |
1 | g.68444578T>A | CA340747659 | RPE65 | c.448A>T (p.Asn150Tyr) c.172A>T (p.Asn58Tyr) | |
1 | g.68444578T>C | CA340747661 | RPE65 | c.448A>G (p.Asn150Asp) c.172A>G (p.Asn58Asp) | |
1 | g.68444578T>G | CA340747663 | RPE65 | c.448A>C (p.Asn150His) c.172A>C (p.Asn58His) | |
1 | g.68444579G>A | CA418282697 | RPE65 | c.447C>T (p.Thr149=) c.171C>T (p.Thr57=) | ClinVar dbSNP |
1 | g.68444579G>C | CA418282698 | RPE65 | c.447C>G (p.Thr149=) c.171C>G (p.Thr57=) | dbSNP |
1 | g.68444579G= | CA1173563398 | RPE65 | c.447C= (p.Thr149=) c.171C= (p.Thr57=) | |
1 | g.68444579G>T | CA902506 | RPE65 | c.447C>A (p.Thr149=) c.171C>A (p.Thr57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68444580G>A | CA340747670 | RPE65 | c.446C>T (p.Thr149Ile) c.170C>T (p.Thr57Ile) | |
1 | g.68444580G>C | CA340747675 | RPE65 | c.446C>G (p.Thr149Ser) c.170C>G (p.Thr57Ser) | |
1 | g.68444580G>T | CA340747672 | RPE65 | c.446C>A (p.Thr149Asn) c.170C>A (p.Thr57Asn) | gnomAD v4 |
1 | g.68444580_68444582delinsGTC | CA1173563399 | RPE65 | c.444_446delinsGAC (p.Glu148=) c.168_170delinsGAC (p.Glu56=) | |
1 | g.68444581T>A | CA340747678 | RPE65 | c.445A>T (p.Thr149Ser) c.169A>T (p.Thr57Ser) | |
1 | g.68444581T>C | CA23574806 | RPE65 | c.445A>G (p.Thr149Ala) c.169A>G (p.Thr57Ala) | dbSNP |
1 | g.68444581T>G | CA340747681 | RPE65 | c.445A>C (p.Thr149Pro) c.169A>C (p.Thr57Pro) | |
1 | g.68444581T= | CA1173563401 | RPE65 | c.445A= (p.Thr149=) c.169A= (p.Thr57=) | |
1 | g.68444584_68444585del | CA1173563400 | RPE65 | c.444_445del (p.Glu148AspfsTer8) c.168_169del (p.Glu56AspfsTer8) | ClinVar dbSNP |
1 | g.68444582C>A | CA226553 | RPE65 | c.444G>T (p.Glu148Asp) c.168G>T (p.Glu56Asp) | ClinVar dbSNP |
1 | g.68444582C= | CA1140725789 | RPE65 | c.444G= (p.Glu148=) c.168G= (p.Glu56=) | |
1 | g.68444582C>G | CA340747683 | RPE65 | c.444G>C (p.Glu148Asp) c.168G>C (p.Glu56Asp) | |
1 | g.68444582C>T | CA418282699 | RPE65 | c.444G>A (p.Glu148=) c.168G>A (p.Glu56=) |