| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132675628del | CA2621500 | NPHP3-ACAD11,UBA5 | c.1143del (p.Lys381AsnfsTer11) c.972del (p.Lys324AsnfsTer11) c.804del (p.Lys268AsnfsTer11) n.2403del c.*1980+6288del (n.*1980+6288del) n.247del c.636+6288del n.3995+6288del c.636del (p.Lys212AsnfsTer11) c.831del (p.Lys277AsnfsTer11) c.702del (p.Lys234AsnfsTer11) n.1438del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.132675626_132675629delinsAAAC | CA1402639853 | NPHP3-ACAD11,UBA5 | c.1141_1144delinsAAAC (p.Lys381=) c.970_973delinsAAAC (p.Lys324=) c.802_805delinsAAAC (p.Lys268=) n.2401_2404delinsAAAC c.*1980+6285_*1980+6288delinsGTTT (n.*1980+6285_*1980+6288delinsGTTT) n.245_248delinsAAAC c.636+6285_636+6288delinsGTTT n.3995+6285_3995+6288delinsGTTT c.634_637delinsAAAC (p.Lys212=) c.829_832delinsAAAC (p.Lys277=) c.700_703delinsAAAC (p.Lys234=) n.1436_1439delinsAAAC | |
| 3 | g.132675629_132675631del | CA917010318 | NPHP3-ACAD11,UBA5 | c.1144_1146del (p.Gln382del) c.973_975del (p.Gln325del) c.805_807del (p.Gln269del) n.2404_2406del c.*1980+6285_*1980+6287del (n.*1980+6285_*1980+6287del) n.248_250del c.636+6285_636+6287del n.3995+6285_3995+6287del c.637_639del (p.Gln213del) c.832_834del (p.Gln278del) c.703_705del (p.Gln235del) n.1439_1441del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132675628A>C | CA354576675 | NPHP3-ACAD11,UBA5 | c.1143A>C (p.Lys381Asn) c.972A>C (p.Lys324Asn) c.804A>C (p.Lys268Asn) n.2403A>C c.*1980+6286T>G (n.*1980+6286T>G) n.247A>C c.636+6286T>G n.3995+6286T>G c.636A>C (p.Lys212Asn) c.831A>C (p.Lys277Asn) c.702A>C (p.Lys234Asn) n.1438A>C | |
| 3 | g.132675628A>G | CA435799960 | NPHP3-ACAD11,UBA5 | c.1143A>G (p.Lys381=) c.972A>G (p.Lys324=) c.804A>G (p.Lys268=) n.2403A>G c.*1980+6286T>C (n.*1980+6286T>C) n.247A>G c.636+6286T>C n.3995+6286T>C c.636A>G (p.Lys212=) c.831A>G (p.Lys277=) c.702A>G (p.Lys234=) n.1438A>G | |
| 3 | g.132675628A>T | CA354576677 | NPHP3-ACAD11,UBA5 | c.1143A>T (p.Lys381Asn) c.972A>T (p.Lys324Asn) c.804A>T (p.Lys268Asn) n.2403A>T c.*1980+6286T>A (n.*1980+6286T>A) n.247A>T c.636+6286T>A n.3995+6286T>A c.636A>T (p.Lys212Asn) c.831A>T (p.Lys277Asn) c.702A>T (p.Lys234Asn) n.1438A>T | |
| 3 | g.132675629C>A | CA354576679 | NPHP3-ACAD11,UBA5 | c.1144C>A (p.Gln382Lys) c.973C>A (p.Gln325Lys) c.805C>A (p.Gln269Lys) n.2404C>A c.*1980+6285G>T (n.*1980+6285G>T) n.248C>A c.636+6285G>T n.3995+6285G>T c.637C>A (p.Gln213Lys) c.832C>A (p.Gln278Lys) c.703C>A (p.Gln235Lys) n.1439C>A | |
| 3 | g.132675629C= | CA1402639866 | NPHP3-ACAD11,UBA5 | c.1144C= (p.Gln382=) c.973C= (p.Gln325=) c.805C= (p.Gln269=) n.2404C= c.*1980+6285G= (n.*1980+6285G=) n.248C= c.636+6285G= n.3995+6285G= c.637C= (p.Gln213=) c.832C= (p.Gln278=) c.703C= (p.Gln235=) n.1439C= | |
| 3 | g.132675629C>G | CA2621501 | NPHP3-ACAD11,UBA5 | c.1144C>G (p.Gln382Glu) c.973C>G (p.Gln325Glu) c.805C>G (p.Gln269Glu) n.2404C>G c.*1980+6285G>C (n.*1980+6285G>C) n.248C>G c.636+6285G>C n.3995+6285G>C c.637C>G (p.Gln213Glu) c.832C>G (p.Gln278Glu) c.703C>G (p.Gln235Glu) n.1439C>G | dbSNP ExAC gnomAD v2 |
| 3 | g.132675629C>T | CA354576682 | NPHP3-ACAD11,UBA5 | c.1144C>T (p.Gln382Ter) c.973C>T (p.Gln325Ter) c.805C>T (p.Gln269Ter) n.2404C>T c.*1980+6285G>A (n.*1980+6285G>A) n.248C>T c.636+6285G>A n.3995+6285G>A c.637C>T (p.Gln213Ter) c.832C>T (p.Gln278Ter) c.703C>T (p.Gln235Ter) n.1439C>T | |
| 3 | g.132675630A= | CA1402639868 | NPHP3-ACAD11,UBA5 | c.1145A= (p.Gln382=) c.974A= (p.Gln325=) c.806A= (p.Gln269=) n.2405A= c.*1980+6284T= (n.*1980+6284T=) n.249A= c.636+6284T= n.3995+6284T= c.638A= (p.Gln213=) c.833A= (p.Gln278=) c.704A= (p.Gln235=) n.1440A= | |
| 3 | g.132675630A>C | CA354576684 | NPHP3-ACAD11,UBA5 | c.1145A>C (p.Gln382Pro) c.974A>C (p.Gln325Pro) c.806A>C (p.Gln269Pro) n.2405A>C c.*1980+6284T>G (n.*1980+6284T>G) n.249A>C c.636+6284T>G n.3995+6284T>G c.638A>C (p.Gln213Pro) c.833A>C (p.Gln278Pro) c.704A>C (p.Gln235Pro) n.1440A>C | |
| 3 | g.132675630A>G | CA354576686 | NPHP3-ACAD11,UBA5 | c.1145A>G (p.Gln382Arg) c.974A>G (p.Gln325Arg) c.806A>G (p.Gln269Arg) n.2405A>G c.*1980+6284T>C (n.*1980+6284T>C) n.249A>G c.636+6284T>C n.3995+6284T>C c.638A>G (p.Gln213Arg) c.833A>G (p.Gln278Arg) c.704A>G (p.Gln235Arg) n.1440A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132675630A>T | CA354576688 | NPHP3-ACAD11,UBA5 | c.1145A>T (p.Gln382Leu) c.974A>T (p.Gln325Leu) c.806A>T (p.Gln269Leu) n.2405A>T c.*1980+6284T>A (n.*1980+6284T>A) n.249A>T c.636+6284T>A n.3995+6284T>A c.638A>T (p.Gln213Leu) c.833A>T (p.Gln278Leu) c.704A>T (p.Gln235Leu) n.1440A>T | |
| 3 | g.132675630_132675631del | CA2667734582 | NPHP3-ACAD11,UBA5 | c.1145_1146del (p.Gln382ArgfsTer12) c.974_975del (p.Gln325ArgfsTer12) c.806_807del (p.Gln269ArgfsTer12) n.2405_2406del c.*1980+6283_*1980+6284del (n.*1980+6283_*1980+6284del) n.249_250del c.636+6283_636+6284del n.3995+6283_3995+6284del c.638_639del (p.Gln213ArgfsTer12) c.833_834del (p.Gln278ArgfsTer12) c.704_705del (p.Gln235ArgfsTer12) n.1440_1441del | gnomAD v4 |
| 3 | g.132675631A>C | CA354576690 | NPHP3-ACAD11,UBA5 | c.1146A>C (p.Gln382His) c.975A>C (p.Gln325His) c.807A>C (p.Gln269His) n.2406A>C c.*1980+6283T>G (n.*1980+6283T>G) n.250A>C c.636+6283T>G n.3995+6283T>G c.639A>C (p.Gln213His) c.834A>C (p.Gln278His) c.705A>C (p.Gln235His) n.1441A>C | |
| 3 | g.132675631A>G | CA435799963 | NPHP3-ACAD11,UBA5 | c.1146A>G (p.Gln382=) c.975A>G (p.Gln325=) c.807A>G (p.Gln269=) n.2406A>G c.*1980+6283T>C (n.*1980+6283T>C) n.250A>G c.636+6283T>C n.3995+6283T>C c.639A>G (p.Gln213=) c.834A>G (p.Gln278=) c.705A>G (p.Gln235=) n.1441A>G | |
| 3 | g.132675631A>T | CA354576692 | NPHP3-ACAD11,UBA5 | c.1146A>T (p.Gln382His) c.975A>T (p.Gln325His) c.807A>T (p.Gln269His) n.2406A>T c.*1980+6283T>A (n.*1980+6283T>A) n.250A>T c.636+6283T>A n.3995+6283T>A c.639A>T (p.Gln213His) c.834A>T (p.Gln278His) c.705A>T (p.Gln235His) n.1441A>T | |
| 3 | g.132675632G>A | CA354576694 | NPHP3-ACAD11,UBA5 | c.1147G>A (p.Glu383Lys) c.976G>A (p.Glu326Lys) c.808G>A (p.Glu270Lys) n.2407G>A c.*1980+6282C>T (n.*1980+6282C>T) n.251G>A c.636+6282C>T n.3995+6282C>T c.640G>A (p.Glu214Lys) c.835G>A (p.Glu279Lys) c.706G>A (p.Glu236Lys) n.1442G>A | dbSNP gnomAD v4 |
| 3 | g.132675632G>C | CA354576695 | NPHP3-ACAD11,UBA5 | c.1147G>C (p.Glu383Gln) c.976G>C (p.Glu326Gln) c.808G>C (p.Glu270Gln) n.2407G>C c.*1980+6282C>G (n.*1980+6282C>G) n.251G>C c.636+6282C>G n.3995+6282C>G c.640G>C (p.Glu214Gln) c.835G>C (p.Glu279Gln) c.706G>C (p.Glu236Gln) n.1442G>C | dbSNP gnomAD v4 |
| 3 | g.132675632G= | CA1402639872 | NPHP3-ACAD11,UBA5 | c.1147G= (p.Glu383=) c.976G= (p.Glu326=) c.808G= (p.Glu270=) n.2407G= c.*1980+6282C= (n.*1980+6282C=) n.251G= c.636+6282C= n.3995+6282C= c.640G= (p.Glu214=) c.835G= (p.Glu279=) c.706G= (p.Glu236=) n.1442G= | |
| 3 | g.132675632G>T | CA354576696 | NPHP3-ACAD11,UBA5 | c.1147G>T (p.Glu383Ter) c.976G>T (p.Glu326Ter) c.808G>T (p.Glu270Ter) n.2407G>T c.*1980+6282C>A (n.*1980+6282C>A) n.251G>T c.636+6282C>A n.3995+6282C>A c.640G>T (p.Glu214Ter) c.835G>T (p.Glu279Ter) c.706G>T (p.Glu236Ter) n.1442G>T | |
| 3 | g.132675633A>C | CA354576697 | NPHP3-ACAD11,UBA5 | c.1148A>C (p.Glu383Ala) c.977A>C (p.Glu326Ala) c.809A>C (p.Glu270Ala) n.2408A>C c.*1980+6281T>G (n.*1980+6281T>G) n.252A>C c.636+6281T>G n.3995+6281T>G c.641A>C (p.Glu214Ala) c.836A>C (p.Glu279Ala) c.707A>C (p.Glu236Ala) n.1443A>C | |
| 3 | g.132675633A>G | CA354576698 | NPHP3-ACAD11,UBA5 | c.1148A>G (p.Glu383Gly) c.977A>G (p.Glu326Gly) c.809A>G (p.Glu270Gly) n.2408A>G c.*1980+6281T>C (n.*1980+6281T>C) n.252A>G c.636+6281T>C n.3995+6281T>C c.641A>G (p.Glu214Gly) c.836A>G (p.Glu279Gly) c.707A>G (p.Glu236Gly) n.1443A>G | |
| 3 | g.132675633A>T | CA354576699 | NPHP3-ACAD11,UBA5 | c.1148A>T (p.Glu383Val) c.977A>T (p.Glu326Val) c.809A>T (p.Glu270Val) n.2408A>T c.*1980+6281T>A (n.*1980+6281T>A) n.252A>T c.636+6281T>A n.3995+6281T>A c.641A>T (p.Glu214Val) c.836A>T (p.Glu279Val) c.707A>T (p.Glu236Val) n.1443A>T | |
| 3 | g.132675634G>A | CA435799965 | NPHP3-ACAD11,UBA5 | c.1149G>A (p.Glu383=) c.978G>A (p.Glu326=) c.810G>A (p.Glu270=) n.2409G>A c.*1980+6280C>T (n.*1980+6280C>T) n.253G>A c.636+6280C>T n.3995+6280C>T c.642G>A (p.Glu214=) c.837G>A (p.Glu279=) c.708G>A (p.Glu236=) n.1444G>A | |
| 3 | g.132675634G>C | CA354576701 | NPHP3-ACAD11,UBA5 | c.1149G>C (p.Glu383Asp) c.978G>C (p.Glu326Asp) c.810G>C (p.Glu270Asp) n.2409G>C c.*1980+6280C>G (n.*1980+6280C>G) n.253G>C c.636+6280C>G n.3995+6280C>G c.642G>C (p.Glu214Asp) c.837G>C (p.Glu279Asp) c.708G>C (p.Glu236Asp) n.1444G>C | |
| 3 | g.132675634G>T | CA354576700 | NPHP3-ACAD11,UBA5 | c.1149G>T (p.Glu383Asp) c.978G>T (p.Glu326Asp) c.810G>T (p.Glu270Asp) n.2409G>T c.*1980+6280C>A (n.*1980+6280C>A) n.253G>T c.636+6280C>A n.3995+6280C>A c.642G>T (p.Glu214Asp) c.837G>T (p.Glu279Asp) c.708G>T (p.Glu236Asp) n.1444G>T | |
| 3 | g.132675635G>A | CA354576702 | NPHP3-ACAD11,UBA5 | c.1150G>A (p.Val384Ile) c.979G>A (p.Val327Ile) c.811G>A (p.Val271Ile) n.2410G>A c.*1980+6279C>T (n.*1980+6279C>T) n.254G>A c.636+6279C>T n.3995+6279C>T c.643G>A (p.Val215Ile) c.838G>A (p.Val280Ile) c.709G>A (p.Val237Ile) n.1445G>A | dbSNP gnomAD v4 |
| 3 | g.132675635G>C | CA2621502 | NPHP3-ACAD11,UBA5 | c.1150G>C (p.Val384Leu) c.979G>C (p.Val327Leu) c.811G>C (p.Val271Leu) n.2410G>C c.*1980+6279C>G (n.*1980+6279C>G) n.254G>C c.636+6279C>G n.3995+6279C>G c.643G>C (p.Val215Leu) c.838G>C (p.Val280Leu) c.709G>C (p.Val237Leu) n.1445G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132675635G= | CA1402639877 | NPHP3-ACAD11,UBA5 | c.1150G= (p.Val384=) c.979G= (p.Val327=) c.811G= (p.Val271=) n.2410G= c.*1980+6279C= (n.*1980+6279C=) n.254G= c.636+6279C= n.3995+6279C= c.643G= (p.Val215=) c.838G= (p.Val280=) c.709G= (p.Val237=) n.1445G= | |
| 3 | g.132675635G>T | CA354576703 | NPHP3-ACAD11,UBA5 | c.1150G>T (p.Val384Phe) c.979G>T (p.Val327Phe) c.811G>T (p.Val271Phe) n.2410G>T c.*1980+6279C>A (n.*1980+6279C>A) n.254G>T c.636+6279C>A n.3995+6279C>A c.643G>T (p.Val215Phe) c.838G>T (p.Val280Phe) c.709G>T (p.Val237Phe) n.1445G>T | |
| 3 | g.132675636T>A | CA354576704 | NPHP3-ACAD11,UBA5 | c.1151T>A (p.Val384Asp) c.980T>A (p.Val327Asp) c.812T>A (p.Val271Asp) n.2411T>A c.*1980+6278A>T (n.*1980+6278A>T) n.255T>A c.636+6278A>T n.3995+6278A>T c.644T>A (p.Val215Asp) c.839T>A (p.Val280Asp) c.710T>A (p.Val237Asp) n.1446T>A | |
| 3 | g.132675636T>C | CA354576705 | NPHP3-ACAD11,UBA5 | c.1151T>C (p.Val384Ala) c.980T>C (p.Val327Ala) c.812T>C (p.Val271Ala) n.2411T>C c.*1980+6278A>G (n.*1980+6278A>G) n.255T>C c.636+6278A>G n.3995+6278A>G c.644T>C (p.Val215Ala) c.839T>C (p.Val280Ala) c.710T>C (p.Val237Ala) n.1446T>C | |
| 3 | g.132675636T>G | CA354576706 | NPHP3-ACAD11,UBA5 | c.1151T>G (p.Val384Gly) c.980T>G (p.Val327Gly) c.812T>G (p.Val271Gly) n.2411T>G c.*1980+6278A>C (n.*1980+6278A>C) n.255T>G c.636+6278A>C n.3995+6278A>C c.644T>G (p.Val215Gly) c.839T>G (p.Val280Gly) c.710T>G (p.Val237Gly) n.1446T>G | |
| 3 | g.132675637T>A | CA435799968 | NPHP3-ACAD11,UBA5 | c.1152T>A (p.Val384=) c.981T>A (p.Val327=) c.813T>A (p.Val271=) n.2412T>A c.*1980+6277A>T (n.*1980+6277A>T) n.256T>A c.636+6277A>T n.3995+6277A>T c.645T>A (p.Val215=) c.840T>A (p.Val280=) c.711T>A (p.Val237=) n.1447T>A | |
| 3 | g.132675637T>C | CA435799969 | NPHP3-ACAD11,UBA5 | c.1152T>C (p.Val384=) c.981T>C (p.Val327=) c.813T>C (p.Val271=) n.2412T>C c.*1980+6277A>G (n.*1980+6277A>G) n.256T>C c.636+6277A>G n.3995+6277A>G c.645T>C (p.Val215=) c.840T>C (p.Val280=) c.711T>C (p.Val237=) n.1447T>C | gnomAD v4 |
| 3 | g.132675637T>G | CA435799971 | NPHP3-ACAD11,UBA5 | c.1152T>G (p.Val384=) c.981T>G (p.Val327=) c.813T>G (p.Val271=) n.2412T>G c.*1980+6277A>C (n.*1980+6277A>C) n.256T>G c.636+6277A>C n.3995+6277A>C c.645T>G (p.Val215=) c.840T>G (p.Val280=) c.711T>G (p.Val237=) n.1447T>G | |
| 3 | g.132675638A>C | CA354576707 | NPHP3-ACAD11,UBA5 | c.1153A>C (p.Ile385Leu) c.982A>C (p.Ile328Leu) c.814A>C (p.Ile272Leu) n.2413A>C c.*1980+6276T>G (n.*1980+6276T>G) n.257A>C c.636+6276T>G n.3995+6276T>G c.646A>C (p.Ile216Leu) c.841A>C (p.Ile281Leu) c.712A>C (p.Ile238Leu) n.1448A>C | |
| 3 | g.132675638A>G | CA354576709 | NPHP3-ACAD11,UBA5 | c.1153A>G (p.Ile385Val) c.982A>G (p.Ile328Val) c.814A>G (p.Ile272Val) n.2413A>G c.*1980+6276T>C (n.*1980+6276T>C) n.257A>G c.636+6276T>C n.3995+6276T>C c.646A>G (p.Ile216Val) c.841A>G (p.Ile281Val) c.712A>G (p.Ile238Val) n.1448A>G | |
| 3 | g.132675638A>T | CA354576708 | NPHP3-ACAD11,UBA5 | c.1153A>T (p.Ile385Leu) c.982A>T (p.Ile328Leu) c.814A>T (p.Ile272Leu) n.2413A>T c.*1980+6276T>A (n.*1980+6276T>A) n.257A>T c.636+6276T>A n.3995+6276T>A c.646A>T (p.Ile216Leu) c.841A>T (p.Ile281Leu) c.712A>T (p.Ile238Leu) n.1448A>T | |
| 3 | g.132675639T>A | CA354576710 | NPHP3-ACAD11,UBA5 | c.1154T>A (p.Ile385Lys) c.983T>A (p.Ile328Lys) c.815T>A (p.Ile272Lys) n.2414T>A c.*1980+6275A>T (n.*1980+6275A>T) n.258T>A c.636+6275A>T n.3995+6275A>T c.647T>A (p.Ile216Lys) c.842T>A (p.Ile281Lys) c.713T>A (p.Ile238Lys) n.1449T>A | |
| 3 | g.132675639T>C | CA354576711 | NPHP3-ACAD11,UBA5 | c.1154T>C (p.Ile385Thr) c.983T>C (p.Ile328Thr) c.815T>C (p.Ile272Thr) n.2414T>C c.*1980+6275A>G (n.*1980+6275A>G) n.258T>C c.636+6275A>G n.3995+6275A>G c.647T>C (p.Ile216Thr) c.842T>C (p.Ile281Thr) c.713T>C (p.Ile238Thr) n.1449T>C | dbSNP gnomAD v4 |
| 3 | g.132675639T>G | CA354576712 | NPHP3-ACAD11,UBA5 | c.1154T>G (p.Ile385Arg) c.983T>G (p.Ile328Arg) c.815T>G (p.Ile272Arg) n.2414T>G c.*1980+6275A>C (n.*1980+6275A>C) n.258T>G c.636+6275A>C n.3995+6275A>C c.647T>G (p.Ile216Arg) c.842T>G (p.Ile281Arg) c.713T>G (p.Ile238Arg) n.1449T>G | |
| 3 | g.132675639T= | CA1402639880 | NPHP3-ACAD11,UBA5 | c.1154T= (p.Ile385=) c.983T= (p.Ile328=) c.815T= (p.Ile272=) n.2414T= c.*1980+6275A= (n.*1980+6275A=) n.258T= c.636+6275A= n.3995+6275A= c.647T= (p.Ile216=) c.842T= (p.Ile281=) c.713T= (p.Ile238=) n.1449T= | |
| 3 | g.132675640A>C | CA435799976 | NPHP3-ACAD11,UBA5 | c.1155A>C (p.Ile385=) c.984A>C (p.Ile328=) c.816A>C (p.Ile272=) n.2415A>C c.*1980+6274T>G (n.*1980+6274T>G) n.259A>C c.636+6274T>G n.3995+6274T>G c.648A>C (p.Ile216=) c.843A>C (p.Ile281=) c.714A>C (p.Ile238=) n.1450A>C | |
| 3 | g.132675640A>G | CA354576713 | NPHP3-ACAD11,UBA5 | c.1155A>G (p.Ile385Met) c.984A>G (p.Ile328Met) c.816A>G (p.Ile272Met) n.2415A>G c.*1980+6274T>C (n.*1980+6274T>C) n.259A>G c.636+6274T>C n.3995+6274T>C c.648A>G (p.Ile216Met) c.843A>G (p.Ile281Met) c.714A>G (p.Ile238Met) n.1450A>G | |
| 3 | g.132675640A>T | CA435799977 | NPHP3-ACAD11,UBA5 | c.1155A>T (p.Ile385=) c.984A>T (p.Ile328=) c.816A>T (p.Ile272=) n.2415A>T c.*1980+6274T>A (n.*1980+6274T>A) n.259A>T c.636+6274T>A n.3995+6274T>A c.648A>T (p.Ile216=) c.843A>T (p.Ile281=) c.714A>T (p.Ile238=) n.1450A>T | |
| 3 | g.132675641C>A | CA354576714 | NPHP3-ACAD11,UBA5 | c.1156C>A (p.Gln386Lys) c.985C>A (p.Gln329Lys) c.817C>A (p.Gln273Lys) n.2416C>A c.*1980+6273G>T (n.*1980+6273G>T) n.260C>A c.636+6273G>T n.3995+6273G>T c.649C>A (p.Gln217Lys) c.844C>A (p.Gln282Lys) c.715C>A (p.Gln239Lys) n.1451C>A | |
| 3 | g.132675641C>G | CA354576715 | NPHP3-ACAD11,UBA5 | c.1156C>G (p.Gln386Glu) c.985C>G (p.Gln329Glu) c.817C>G (p.Gln273Glu) n.2416C>G c.*1980+6273G>C (n.*1980+6273G>C) n.260C>G c.636+6273G>C n.3995+6273G>C c.649C>G (p.Gln217Glu) c.844C>G (p.Gln282Glu) c.715C>G (p.Gln239Glu) n.1451C>G |