OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68439521T>C | CA2574402947 | RPE65 | c.725+40A>G (n.725+40A>G) c.449+40A>G (n.449+40A>G) | gnomAD v4 |
| 1 | g.68439522T>G | CA2574402948 | RPE65 | c.725+39A>C (n.725+39A>C) c.449+39A>C (n.449+39A>C) | gnomAD v4 |
| 1 | g.68439523G>C | CA1002830691 | RPE65 | c.725+38C>G (n.725+38C>G) c.449+38C>G (n.449+38C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68439523G= | CA1173561350 | RPE65 | c.725+38C= (n.725+38C=) c.449+38C= (n.449+38C=) | |
| 1 | g.68439523G>T | CA2646149899 | RPE65 | c.725+38C>A (n.725+38C>A) c.449+38C>A (n.449+38C>A) | gnomAD v4 |
| 1 | g.68439524A= | CA1173561351 | RPE65 | c.725+37T= (n.725+37T=) c.449+37T= (n.449+37T=) | |
| 1 | g.68439524A>G | CA523749915 | RPE65 | c.725+37T>C (n.725+37T>C) c.449+37T>C (n.449+37T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439525G>A | CA523749916 | RPE65 | c.725+36C>T (n.725+36C>T) c.449+36C>T (n.449+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439525G= | CA1173561352 | RPE65 | c.725+36C= (n.725+36C=) c.449+36C= (n.449+36C=) | |
| 1 | g.68439526T>A | CA2646149901 | RPE65 | c.725+35A>T (n.725+35A>T) c.449+35A>T (n.449+35A>T) | gnomAD v4 |
| 1 | g.68439527T>A | CA2646149902 | RPE65 | c.725+34A>T (n.725+34A>T) c.449+34A>T (n.449+34A>T) | gnomAD v4 |
| 1 | g.68439527T>C | CA2574402949 | RPE65 | c.725+34A>G (n.725+34A>G) c.449+34A>G (n.449+34A>G) | |
| 1 | g.68439528T>C | CA2530329560 | RPE65 | c.725+33A>G (n.725+33A>G) c.449+33A>G (n.449+33A>G) | gnomAD v4 |
| 1 | g.68439529T>C | CA2646149903 | RPE65 | c.725+32A>G (n.725+32A>G) c.449+32A>G (n.449+32A>G) | gnomAD v4 |
| 1 | g.68439530C>T | CA2744001323 | RPE65 | c.725+31G>A (n.725+31G>A) c.449+31G>A (n.449+31G>A) | |
| 1 | g.68439531C>T | CA646102769 | RPE65 | c.725+30G>A (n.725+30G>A) c.449+30G>A (n.449+30G>A) | gnomAD v4 COSMIC |
| 1 | g.68439534A>G | CA2646149904 | RPE65 | c.725+27T>C (n.725+27T>C) c.449+27T>C (n.449+27T>C) | gnomAD v4 |
| 1 | g.68439536G>T | CA2646149905 | RPE65 | c.725+25C>A (n.725+25C>A) c.449+25C>A (n.449+25C>A) | gnomAD v4 |
| 1 | g.68439537A>T | CA2646149906 | RPE65 | c.725+24T>A (n.725+24T>A) c.449+24T>A (n.449+24T>A) | gnomAD v4 |
| 1 | g.68439538T>G | CA902419 | RPE65 | c.725+23A>C (n.725+23A>C) c.449+23A>C (n.449+23A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68439538T= | CA1173561353 | RPE65 | c.725+23A= (n.725+23A=) c.449+23A= (n.449+23A=) | |
| 1 | g.68439541A= | CA1173561354 | RPE65 | c.725+20T= (n.725+20T=) c.449+20T= (n.449+20T=) | |
| 1 | g.68439541A>G | CA1002830692 | RPE65 | c.725+20T>C (n.725+20T>C) c.449+20T>C (n.449+20T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68439542T>A | CA2646149907 | RPE65 | c.725+19A>T (n.725+19A>T) c.449+19A>T (n.449+19A>T) | gnomAD v4 |
| 1 | g.68439542T>C | CA523749917 | RPE65 | c.725+19A>G (n.725+19A>G) c.449+19A>G (n.449+19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439542T= | CA1173561355 | RPE65 | c.725+19A= (n.725+19A=) c.449+19A= (n.449+19A=) | |
| 1 | g.68439543A= | CA1173561356 | RPE65 | c.725+18T= (n.725+18T=) c.449+18T= (n.449+18T=) | |
| 1 | g.68439543A>C | CA23570962 | RPE65 | c.725+18T>G (n.725+18T>G) c.449+18T>G (n.449+18T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439544G>A | CA1173561358 | RPE65 | c.725+17C>T (n.725+17C>T) c.449+17C>T (n.449+17C>T) | dbSNP gnomAD v4 |
| 1 | g.68439544G= | CA1173561357 | RPE65 | c.725+17C= (n.725+17C=) c.449+17C= (n.449+17C=) | |
| 1 | g.68439544G>T | CA2646149911 | RPE65 | c.725+17C>A (n.725+17C>A) c.449+17C>A (n.449+17C>A) | gnomAD v4 |
| 1 | g.68439545C= | CA1173561359 | RPE65 | c.725+16G= (n.725+16G=) c.449+16G= (n.449+16G=) | |
| 1 | g.68439545C>T | CA523749918 | RPE65 | c.725+16G>A (n.725+16G>A) c.449+16G>A (n.449+16G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439547G>A | CA523749919 | RPE65 | c.725+14C>T (n.725+14C>T) c.449+14C>T (n.449+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439547G= | CA1173561360 | RPE65 | c.725+14C= (n.725+14C=) c.449+14C= (n.449+14C=) | |
| 1 | g.68439549C>A | CA738202016 | RPE65 | c.725+12G>T (n.725+12G>T) c.449+12G>T (n.449+12G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68439549C= | CA1173561361 | RPE65 | c.725+12G= (n.725+12G=) c.449+12G= (n.449+12G=) | |
| 1 | g.68439550C= | CA1173561362 | RPE65 | c.725+11G= (n.725+11G=) c.449+11G= (n.449+11G=) | |
| 1 | g.68439550C>T | CA23570964 | RPE65 | c.725+11G>A (n.725+11G>A) c.449+11G>A (n.449+11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439552T>C | CA23570970 | RPE65 | c.725+9A>G (n.725+9A>G) c.449+9A>G (n.449+9A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68439552T>G | CA902420 | RPE65 | c.725+9A>C (n.725+9A>C) c.449+9A>C (n.449+9A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68439552T= | CA1141208582 | RPE65 | c.725+9A= (n.725+9A=) c.449+9A= (n.449+9A=) | |
| 1 | g.68439553C= | CA1173561363 | RPE65 | c.725+8G= (n.725+8G=) c.449+8G= (n.449+8G=) | |
| 1 | g.68439553C>G | CA523300864 | RPE65 | c.725+8G>C (n.725+8G>C) c.449+8G>C (n.449+8G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439553C>T | CA2573131960 | RPE65 | c.725+8G>A (n.725+8G>A) c.449+8G>A (n.449+8G>A) | ClinVar dbSNP |
| 1 | g.68439554A>G | CA2574402950 | RPE65 | c.725+7T>C (n.725+7T>C) c.449+7T>C (n.449+7T>C) | |
| 1 | g.68439555A>G | CA2573131962 | RPE65 | c.725+6T>C (n.725+6T>C) c.449+6T>C (n.449+6T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68439556G>A | CA23570981 | RPE65 | c.725+5C>T (n.725+5C>T) c.449+5C>T (n.449+5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439556G= | CA1173561364 | RPE65 | c.725+5C= (n.725+5C=) c.449+5C= (n.449+5C=) | |
| 1 | g.68439557T>C | CA226580 | RPE65 | c.725+4A>G (n.725+4A>G) c.449+4A>G (n.449+4A>G) | ClinVar dbSNP |
| 1 | g.68439557T= | CA1140725772 | RPE65 | c.725+4A= (n.725+4A=) c.449+4A= (n.449+4A=) | |
| 1 | g.68439558T>A | CA523300865 | RPE65 | c.725+3A>T (n.725+3A>T) c.449+3A>T (n.449+3A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439558T>C | CA902421 | RPE65 | c.725+3A>G (n.725+3A>G) c.449+3A>G (n.449+3A>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.68439558T= | CA1173561365 | RPE65 | c.725+3A= (n.725+3A=) c.449+3A= (n.449+3A=) | |
| 1 | g.68439559A= | CA1173561366 | RPE65 | c.725+2T= (n.725+2T=) c.449+2T= (n.449+2T=) | |
| 1 | g.68439559A>C | CA340745899 | RPE65 | c.725+2T>G (n.725+2T>G) c.449+2T>G (n.449+2T>G) | |
| 1 | g.68439559A>G | CA340745900 | RPE65 | c.725+2T>C (n.725+2T>C) c.449+2T>C (n.449+2T>C) | ClinVar dbSNP |
| 1 | g.68439559A>T | CA340745901 | RPE65 | c.725+2T>A (n.725+2T>A) c.449+2T>A (n.449+2T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68439560C>A | CA340745902 | RPE65 | c.725+1G>T (n.725+1G>T) c.449+1G>T (n.449+1G>T) | ClinVar |
| 1 | g.68439560C= | CA1173561367 | RPE65 | c.725+1G= (n.725+1G=) c.449+1G= (n.449+1G=) | |
| 1 | g.68439560C>G | CA340745903 | RPE65 | c.725+1G>C (n.725+1G>C) c.449+1G>C (n.449+1G>C) | |
| 1 | g.68439560C>T | CA340745904 | RPE65 | c.725+1G>A (n.725+1G>A) c.449+1G>A (n.449+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439561C>A | CA340745905 | RPE65 | c.725G>T (p.Ser242Ile) c.449G>T (p.Ser150Ile) | |
| 1 | g.68439561C= | CA1173561368 | RPE65 | c.725G= (p.Ser242=) c.449G= (p.Ser150=) | |
| 1 | g.68439561C>G | CA340745906 | RPE65 | c.725G>C (p.Ser242Thr) c.449G>C (p.Ser150Thr) | |
| 1 | g.68439561C>T | CA23570991 | RPE65 | c.725G>A (p.Ser242Asn) c.449G>A (p.Ser150Asn) | ClinVar dbSNP COSMIC |
| 1 | g.68439562T>A | CA340745907 | RPE65 | c.724A>T (p.Ser242Cys) c.448A>T (p.Ser150Cys) | |
| 1 | g.68439562T>C | CA340745908 | RPE65 | c.724A>G (p.Ser242Gly) c.448A>G (p.Ser150Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439562T>G | CA340745909 | RPE65 | c.724A>C (p.Ser242Arg) c.448A>C (p.Ser150Arg) | |
| 1 | g.68439562T= | CA1173561369 | RPE65 | c.724A= (p.Ser242=) c.448A= (p.Ser150=) | |
| 1 | g.68439563A>C | CA340745910 | RPE65 | c.723T>G (p.His241Gln) c.447T>G (p.His149Gln) | |
| 1 | g.68439563A>G | CA418281515 | RPE65 | c.723T>C (p.His241=) c.447T>C (p.His149=) | ClinVar |
| 1 | g.68439563A>T | CA340745911 | RPE65 | c.723T>A (p.His241Gln) c.447T>A (p.His149Gln) | |
| 1 | g.68439564T>A | CA340745914 | RPE65 | c.722A>T (p.His241Leu) c.446A>T (p.His149Leu) | ClinVar dbSNP |
| 1 | g.68439564T>C | CA340745913 | RPE65 | c.722A>G (p.His241Arg) c.446A>G (p.His149Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68439564T>G | CA340745912 | RPE65 | c.722A>C (p.His241Pro) c.446A>C (p.His149Pro) | dbSNP |
| 1 | g.68439564T= | CA1173561370 | RPE65 | c.722A= (p.His241=) c.446A= (p.His149=) | |
| 1 | g.68439565G>A | CA340745915 | RPE65 | c.721C>T (p.His241Tyr) c.445C>T (p.His149Tyr) | |
| 1 | g.68439565G>C | CA340745916 | RPE65 | c.721C>G (p.His241Asp) c.445C>G (p.His149Asp) | |
| 1 | g.68439565G>T | CA340745917 | RPE65 | c.721C>A (p.His241Asn) c.445C>A (p.His149Asn) | |
| 1 | g.68439566A>C | CA418281521 | RPE65 | c.720T>G (p.Val240=) c.444T>G (p.Val148=) | |
| 1 | g.68439566A>G | CA418281523 | RPE65 | c.720T>C (p.Val240=) c.444T>C (p.Val148=) | |
| 1 | g.68439566A>T | CA418281522 | RPE65 | c.720T>A (p.Val240=) c.444T>A (p.Val148=) | |
| 1 | g.68439567A>C | CA340745918 | RPE65 | c.719T>G (p.Val240Gly) c.443T>G (p.Val148Gly) | |
| 1 | g.68439567A>G | CA340745919 | RPE65 | c.719T>C (p.Val240Ala) c.443T>C (p.Val148Ala) | |
| 1 | g.68439567A>T | CA340745920 | RPE65 | c.719T>A (p.Val240Asp) c.443T>A (p.Val148Asp) | |
| 1 | g.68439568C>A | CA902422 | RPE65 | c.718G>T (p.Val240Phe) c.442G>T (p.Val148Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439568C= | CA1143326273 | RPE65 | c.718G= (p.Val240=) c.442G= (p.Val148=) | |
| 1 | g.68439568C>G | CA340745921 | RPE65 | c.718G>C (p.Val240Leu) c.442G>C (p.Val148Leu) | |
| 1 | g.68439568C>T | CA902423 | RPE65 | c.718G>A (p.Val240Ile) c.442G>A (p.Val148Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439569G>A | CA418281530 | RPE65 | c.717C>T (p.Tyr239=) c.441C>T (p.Tyr147=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439569G>C | CA340745922 | RPE65 | c.717C>G (p.Tyr239Ter) c.441C>G (p.Tyr147Ter) | ClinVar dbSNP |
| 1 | g.68439569G= | CA1173561371 | RPE65 | c.717C= (p.Tyr239=) c.441C= (p.Tyr147=) | |
| 1 | g.68439569G>T | CA340745923 | RPE65 | c.717C>A (p.Tyr239Ter) c.441C>A (p.Tyr147Ter) | |
| 1 | g.68439570T>A | CA340745924 | RPE65 | c.716A>T (p.Tyr239Phe) c.440A>T (p.Tyr147Phe) | |
| 1 | g.68439570T>C | CA340745925 | RPE65 | c.716A>G (p.Tyr239Cys) c.440A>G (p.Tyr147Cys) | |
| 1 | g.68439570T>G | CA340745926 | RPE65 | c.716A>C (p.Tyr239Ser) c.440A>C (p.Tyr147Ser) | |
| 1 | g.68439570dup | CA1173561372 | RPE65 | c.716dup (p.Tyr239Ter) c.440dup (p.Tyr147Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68439571A= | CA1140725773 | RPE65 | c.715T= (p.Tyr239=) c.439T= (p.Tyr147=) | |
| 1 | g.68439571A>C | CA226579 | RPE65 | c.715T>G (p.Tyr239Asp) c.439T>G (p.Tyr147Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439571A>G | CA340745927 | RPE65 | c.715T>C (p.Tyr239His) c.439T>C (p.Tyr147His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439571A>T | CA340745928 | RPE65 | c.715T>A (p.Tyr239Asn) c.439T>A (p.Tyr147Asn) | |
| 1 | g.68439572A= | CA1173561373 | RPE65 | c.714T= (p.Ser238=) c.438T= (p.Ser146=) | |
| 1 | g.68439572A>C | CA418281536 | RPE65 | c.714T>G (p.Ser238=) c.438T>G (p.Ser146=) | |
| 1 | g.68439572A>G | CA418281538 | RPE65 | c.714T>C (p.Ser238=) c.438T>C (p.Ser146=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68439572A>T | CA418281540 | RPE65 | c.714T>A (p.Ser238=) c.438T>A (p.Ser146=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439573G>A | CA340745929 | RPE65 | c.713C>T (p.Ser238Phe) c.437C>T (p.Ser146Phe) | |
| 1 | g.68439573G>C | CA340745930 | RPE65 | c.713C>G (p.Ser238Cys) c.437C>G (p.Ser146Cys) | |
| 1 | g.68439573G>T | CA340745931 | RPE65 | c.713C>A (p.Ser238Tyr) c.437C>A (p.Ser146Tyr) | |
| 1 | g.68439574A>C | CA340745934 | RPE65 | c.712T>G (p.Ser238Ala) c.436T>G (p.Ser146Ala) | |
| 1 | g.68439574A>G | CA340745933 | RPE65 | c.712T>C (p.Ser238Pro) c.436T>C (p.Ser146Pro) | |
| 1 | g.68439574A>T | CA340745932 | RPE65 | c.712T>A (p.Ser238Thr) c.436T>A (p.Ser146Thr) | COSMIC |
| 1 | g.68439575T>A | CA418281546 | RPE65 | c.711A>T (p.Pro237=) c.435A>T (p.Pro145=) | |
| 1 | g.68439575T>C | CA418281548 | RPE65 | c.711A>G (p.Pro237=) c.435A>G (p.Pro145=) | ClinVar dbSNP |
| 1 | g.68439575T>G | CA418281550 | RPE65 | c.711A>C (p.Pro237=) c.435A>C (p.Pro145=) | |
| 1 | g.68439575T= | CA1173561374 | RPE65 | c.711A= (p.Pro237=) c.435A= (p.Pro145=) | |
| 1 | g.68439576G>A | CA340745935 | RPE65 | c.710C>T (p.Pro237Leu) c.434C>T (p.Pro145Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439576G>C | CA340745937 | RPE65 | c.710C>G (p.Pro237Arg) c.434C>G (p.Pro145Arg) | |
| 1 | g.68439576G= | CA1173561375 | RPE65 | c.710C= (p.Pro237=) c.434C= (p.Pro145=) | |
| 1 | g.68439576G>T | CA340745936 | RPE65 | c.710C>A (p.Pro237Gln) c.434C>A (p.Pro145Gln) | dbSNP |
| 1 | g.68439577G>A | CA340745938 | RPE65 | c.709C>T (p.Pro237Ser) c.433C>T (p.Pro145Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68439577G>C | CA340745939 | RPE65 | c.709C>G (p.Pro237Ala) c.433C>G (p.Pro145Ala) | |
| 1 | g.68439577G= | CA1173561376 | RPE65 | c.709C= (p.Pro237=) c.433C= (p.Pro145=) | |
| 1 | g.68439577G>T | CA340745940 | RPE65 | c.709C>A (p.Pro237Thr) c.433C>A (p.Pro145Thr) | gnomAD v4 |
| 1 | g.68439578C>A | CA340745941 | RPE65 | c.708G>T (p.Lys236Asn) c.432G>T (p.Lys144Asn) | COSMIC |
| 1 | g.68439578C>G | CA340745942 | RPE65 | c.708G>C (p.Lys236Asn) c.432G>C (p.Lys144Asn) | |
| 1 | g.68439578C>T | CA418281557 | RPE65 | c.708G>A (p.Lys236=) c.432G>A (p.Lys144=) | ClinVar dbSNP |
| 1 | g.68439579T>A | CA340745943 | RPE65 | c.707A>T (p.Lys236Met) c.431A>T (p.Lys144Met) | |
| 1 | g.68439579T>C | CA340745944 | RPE65 | c.707A>G (p.Lys236Arg) c.431A>G (p.Lys144Arg) | |
| 1 | g.68439579T>G | CA340745945 | RPE65 | c.707A>C (p.Lys236Thr) c.431A>C (p.Lys144Thr) | |
| 1 | g.68439580T>A | CA340745946 | RPE65 | c.706A>T (p.Lys236Ter) c.430A>T (p.Lys144Ter) | ClinVar dbSNP |
| 1 | g.68439580T>C | CA340745947 | RPE65 | c.706A>G (p.Lys236Glu) c.430A>G (p.Lys144Glu) | |
| 1 | g.68439580T>G | CA340745948 | RPE65 | c.706A>C (p.Lys236Gln) c.430A>C (p.Lys144Gln) | |
| 1 | g.68439580T= | CA1173561377 | RPE65 | c.706A= (p.Lys236=) c.430A= (p.Lys144=) | |
| 1 | g.68439581G>A | CA418281563 | RPE65 | c.705C>T (p.Phe235=) c.429C>T (p.Phe143=) | |
| 1 | g.68439581G>C | CA340745949 | RPE65 | c.705C>G (p.Phe235Leu) c.429C>G (p.Phe143Leu) | |
| 1 | g.68439581G>T | CA340745950 | RPE65 | c.705C>A (p.Phe235Leu) c.429C>A (p.Phe143Leu) | |
| 1 | g.68439582A>C | CA340745951 | RPE65 | c.704T>G (p.Phe235Cys) c.428T>G (p.Phe143Cys) | |
| 1 | g.68439582A>G | CA340745953 | RPE65 | c.704T>C (p.Phe235Ser) c.428T>C (p.Phe143Ser) | gnomAD v4 |
| 1 | g.68439582A>T | CA340745952 | RPE65 | c.704T>A (p.Phe235Tyr) c.428T>A (p.Phe143Tyr) | |
| 1 | g.68439583A>C | CA340745954 | RPE65 | c.703T>G (p.Phe235Val) c.427T>G (p.Phe143Val) | |
| 1 | g.68439583A>G | CA340745955 | RPE65 | c.703T>C (p.Phe235Leu) c.427T>C (p.Phe143Leu) | |
| 1 | g.68439583A>T | CA340745956 | RPE65 | c.703T>A (p.Phe235Ile) c.427T>A (p.Phe143Ile) | |
| 1 | g.68439584T>A | CA418281569 | RPE65 | c.702A>T (p.Arg234=) c.426A>T (p.Arg142=) | |
| 1 | g.68439584T>C | CA418281571 | RPE65 | c.702A>G (p.Arg234=) c.426A>G (p.Arg142=) | |
| 1 | g.68439584T>G | CA418281572 | RPE65 | c.702A>C (p.Arg234=) c.426A>C (p.Arg142=) | |
| 1 | g.68439585C>A | CA340745957 | RPE65 | c.701G>T (p.Arg234Leu) c.425G>T (p.Arg142Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68439585C= | CA1148040094 | RPE65 | c.701G= (p.Arg234=) c.425G= (p.Arg142=) | |
| 1 | g.68439585C>G | CA340745958 | RPE65 | c.701G>C (p.Arg234Pro) c.425G>C (p.Arg142Pro) | |
| 1 | g.68439585C>T | CA902424 | RPE65 | c.701G>A (p.Arg234Gln) c.425G>A (p.Arg142Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439586G>A | CA226577 | RPE65 | c.700C>T (p.Arg234Ter) c.424C>T (p.Arg142Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439586G>C | CA340745959 | RPE65 | c.700C>G (p.Arg234Gly) c.424C>G (p.Arg142Gly) | |
| 1 | g.68439586G= | CA1140725774 | RPE65 | c.700C= (p.Arg234=) c.424C= (p.Arg142=) | |
| 1 | g.68439586G>T | CA418281576 | RPE65 | c.700C>A (p.Arg234=) c.424C>A (p.Arg142=) | |
| 1 | g.68439587G>A | CA418281579 | RPE65 | c.699C>T (p.Asp233=) c.423C>T (p.Asp141=) | |
| 1 | g.68439587G>C | CA340745960 | RPE65 | c.699C>G (p.Asp233Glu) c.423C>G (p.Asp141Glu) | |
| 1 | g.68439587G>T | CA340745961 | RPE65 | c.699C>A (p.Asp233Glu) c.423C>A (p.Asp141Glu) | COSMIC |
| 1 | g.68439588T>A | CA340745964 | RPE65 | c.698A>T (p.Asp233Val) c.422A>T (p.Asp141Val) | |
| 1 | g.68439588T>C | CA340745963 | RPE65 | c.698A>G (p.Asp233Gly) c.422A>G (p.Asp141Gly) | |
| 1 | g.68439588T>G | CA340745962 | RPE65 | c.698A>C (p.Asp233Ala) c.422A>C (p.Asp141Ala) | |
| 1 | g.68439589C>A | CA340745965 | RPE65 | c.697G>T (p.Asp233Tyr) c.421G>T (p.Asp141Tyr) | |
| 1 | g.68439589C>G | CA340745966 | RPE65 | c.697G>C (p.Asp233His) c.421G>C (p.Asp141His) | |
| 1 | g.68439589C>T | CA340745967 | RPE65 | c.697G>A (p.Asp233Asn) c.421G>A (p.Asp141Asn) | |
| 1 | g.68439590A>C | CA340745968 | RPE65 | c.696T>G (p.Ser232Arg) c.420T>G (p.Ser140Arg) | |
| 1 | g.68439590A>G | CA418281586 | RPE65 | c.696T>C (p.Ser232=) c.420T>C (p.Ser140=) | |
| 1 | g.68439590A>T | CA340745969 | RPE65 | c.696T>A (p.Ser232Arg) c.420T>A (p.Ser140Arg) | |
| 1 | g.68439591C>A | CA340745970 | RPE65 | c.695G>T (p.Ser232Ile) c.419G>T (p.Ser140Ile) | |
| 1 | g.68439591C>G | CA340745971 | RPE65 | c.695G>C (p.Ser232Thr) c.419G>C (p.Ser140Thr) | |
| 1 | g.68439591C>T | CA340745972 | RPE65 | c.695G>A (p.Ser232Asn) c.419G>A (p.Ser140Asn) | gnomAD v4 |
| 1 | g.68439592T>A | CA340745973 | RPE65 | c.694A>T (p.Ser232Cys) c.418A>T (p.Ser140Cys) | |
| 1 | g.68439592T>C | CA340745974 | RPE65 | c.694A>G (p.Ser232Gly) c.418A>G (p.Ser140Gly) | |
| 1 | g.68439592T>G | CA340745975 | RPE65 | c.694A>C (p.Ser232Arg) c.418A>C (p.Ser140Arg) | |
| 1 | g.68439593G>A | CA418281596 | RPE65 | c.693C>T (p.Cys231=) c.417C>T (p.Cys139=) | gnomAD v4 |
| 1 | g.68439593G>C | CA340745976 | RPE65 | c.693C>G (p.Cys231Trp) c.417C>G (p.Cys139Trp) | |
| 1 | g.68439593G>T | CA340745977 | RPE65 | c.693C>A (p.Cys231Ter) c.417C>A (p.Cys139Ter) | ClinVar dbSNP |
| 1 | g.68439594C>A | CA340745980 | RPE65 | c.692G>T (p.Cys231Phe) c.416G>T (p.Cys139Phe) | |
| 1 | g.68439594C>G | CA340745978 | RPE65 | c.692G>C (p.Cys231Ser) c.416G>C (p.Cys139Ser) | |
| 1 | g.68439594C>T | CA340745979 | RPE65 | c.692G>A (p.Cys231Tyr) c.416G>A (p.Cys139Tyr) | |
| 1 | g.68439595A>C | CA340745981 | RPE65 | c.691T>G (p.Cys231Gly) c.415T>G (p.Cys139Gly) | gnomAD v4 |
| 1 | g.68439595A>G | CA340745982 | RPE65 | c.691T>C (p.Cys231Arg) c.415T>C (p.Cys139Arg) | |
| 1 | g.68439595A>T | CA340745983 | RPE65 | c.691T>A (p.Cys231Ser) c.415T>A (p.Cys139Ser) | |
| 1 | g.68439596G>A | CA418281602 | RPE65 | c.690C>T (p.Pro230=) c.414C>T (p.Pro138=) | ClinVar |
| 1 | g.68439596G>C | CA418281604 | RPE65 | c.690C>G (p.Pro230=) c.414C>G (p.Pro138=) | |
| 1 | g.68439596G>T | CA418281605 | RPE65 | c.690C>A (p.Pro230=) c.414C>A (p.Pro138=) | |
| 1 | g.68439597G>A | CA340745984 | RPE65 | c.689C>T (p.Pro230Leu) c.413C>T (p.Pro138Leu) | |
| 1 | g.68439597G>C | CA340745985 | RPE65 | c.689C>G (p.Pro230Arg) c.413C>G (p.Pro138Arg) | |
| 1 | g.68439597G>T | CA340745986 | RPE65 | c.689C>A (p.Pro230His) c.413C>A (p.Pro138His) | gnomAD v4 |
| 1 | g.68439598G>A | CA23571004 | RPE65 | c.688C>T (p.Pro230Ser) c.412C>T (p.Pro138Ser) | dbSNP gnomAD v4 COSMIC |
| 1 | g.68439598G>C | CA340745987 | RPE65 | c.688C>G (p.Pro230Ala) c.412C>G (p.Pro138Ala) | |
| 1 | g.68439598G= | CA1173561378 | RPE65 | c.688C= (p.Pro230=) c.412C= (p.Pro138=) | |
| 1 | g.68439598G>T | CA23571011 | RPE65 | c.688C>A (p.Pro230Thr) c.412C>A (p.Pro138Thr) | dbSNP |
| 1 | g.68439599G>A | CA418281612 | RPE65 | c.687C>T (p.Phe229=) c.411C>T (p.Phe137=) | gnomAD v4 COSMIC |
| 1 | g.68439599G>C | CA340745988 | RPE65 | c.687C>G (p.Phe229Leu) c.411C>G (p.Phe137Leu) | |
| 1 | g.68439599G= | CA1173561379 | RPE65 | c.687C= (p.Phe229=) c.411C= (p.Phe137=) | |
| 1 | g.68439599G>T | CA902425 | RPE65 | c.687C>A (p.Phe229Leu) c.411C>A (p.Phe137Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439600A>C | CA340745989 | RPE65 | c.686T>G (p.Phe229Cys) c.410T>G (p.Phe137Cys) | |
| 1 | g.68439600A>G | CA340745991 | RPE65 | c.686T>C (p.Phe229Ser) c.410T>C (p.Phe137Ser) | |
| 1 | g.68439600A>T | CA340745990 | RPE65 | c.686T>A (p.Phe229Tyr) c.410T>A (p.Phe137Tyr) | |
| 1 | g.68439601A>C | CA340745992 | RPE65 | c.685T>G (p.Phe229Val) c.409T>G (p.Phe137Val) | |
| 1 | g.68439601A>G | CA340745994 | RPE65 | c.685T>C (p.Phe229Leu) c.409T>C (p.Phe137Leu) | |
| 1 | g.68439601A>T | CA340745993 | RPE65 | c.685T>A (p.Phe229Ile) c.409T>A (p.Phe137Ile) | |
| 1 | g.68439602T>A | CA340745995 | RPE65 | c.684A>T (p.Gln228His) c.408A>T (p.Gln136His) | |
| 1 | g.68439602T>C | CA418281620 | RPE65 | c.684A>G (p.Gln228=) c.408A>G (p.Gln136=) | |
| 1 | g.68439602T>G | CA340745996 | RPE65 | c.684A>C (p.Gln228His) c.408A>C (p.Gln136His) | gnomAD v4 |
| 1 | g.68439603dup | CA2646149933 | RPE65 | c.684dup (p.Phe229IlefsTer5) c.408dup (p.Phe137IlefsTer5) | gnomAD v4 |
| 1 | g.68439603T>A | CA340745997 | RPE65 | c.683A>T (p.Gln228Leu) c.407A>T (p.Gln136Leu) | |
| 1 | g.68439603T>C | CA340745998 | RPE65 | c.683A>G (p.Gln228Arg) c.407A>G (p.Gln136Arg) | |
| 1 | g.68439603T>G | CA10611418 | RPE65 | c.683A>C (p.Gln228Pro) c.407A>C (p.Gln136Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68439603T= | CA1173561380 | RPE65 | c.683A= (p.Gln228=) c.407A= (p.Gln136=) | |
| 1 | g.68439604G>A | CA340745999 | RPE65 | c.682C>T (p.Gln228Ter) c.406C>T (p.Gln136Ter) | |
| 1 | g.68439604G>C | CA340746000 | RPE65 | c.682C>G (p.Gln228Glu) c.406C>G (p.Gln136Glu) | |
| 1 | g.68439604G= | CA1173561381 | RPE65 | c.682C= (p.Gln228=) c.406C= (p.Gln136=) | |
| 1 | g.68439604G>T | CA23571018 | RPE65 | c.682C>A (p.Gln228Lys) c.406C>A (p.Gln136Lys) | dbSNP |
| 1 | g.68439605T>A | CA418281625 | RPE65 | c.681A>T (p.Val227=) c.405A>T (p.Val135=) | |
| 1 | g.68439605T>C | CA418281627 | RPE65 | c.681A>G (p.Val227=) c.405A>G (p.Val135=) | |
| 1 | g.68439605T>G | CA418281628 | RPE65 | c.681A>C (p.Val227=) c.405A>C (p.Val135=) | |
| 1 | g.68439606A>C | CA340746001 | RPE65 | c.680T>G (p.Val227Gly) c.404T>G (p.Val135Gly) | |
| 1 | g.68439606A>G | CA340746002 | RPE65 | c.680T>C (p.Val227Ala) c.404T>C (p.Val135Ala) | |
| 1 | g.68439606A>T | CA340746003 | RPE65 | c.680T>A (p.Val227Glu) c.404T>A (p.Val135Glu) | |
| 1 | g.68439607C>A | CA340746004 | RPE65 | c.679G>T (p.Val227Leu) c.403G>T (p.Val135Leu) | |
| 1 | g.68439607C>G | CA340746005 | RPE65 | c.679G>C (p.Val227Leu) c.403G>C (p.Val135Leu) | |
| 1 | g.68439607C>T | CA340746006 | RPE65 | c.679G>A (p.Val227Ile) c.403G>A (p.Val135Ile) | |
| 1 | g.68439608A>C | CA418281633 | RPE65 | c.678T>G (p.Val226=) c.402T>G (p.Val134=) | |
| 1 | g.68439608A>G | CA418281635 | RPE65 | c.678T>C (p.Val226=) c.402T>C (p.Val134=) | ClinVar |
| 1 | g.68439608A>T | CA418281637 | RPE65 | c.678T>A (p.Val226=) c.402T>A (p.Val134=) | |
| 1 | g.68439609A>C | CA340746009 | RPE65 | c.677T>G (p.Val226Gly) c.401T>G (p.Val134Gly) | |
| 1 | g.68439609A>G | CA340746008 | RPE65 | c.677T>C (p.Val226Ala) c.401T>C (p.Val134Ala) | |
| 1 | g.68439609A>T | CA340746007 | RPE65 | c.677T>A (p.Val226Asp) c.401T>A (p.Val134Asp) | |
| 1 | g.68439610C>A | CA340746010 | RPE65 | c.676G>T (p.Val226Phe) c.400G>T (p.Val134Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68439610C= | CA1173561382 | RPE65 | c.676G= (p.Val226=) c.400G= (p.Val134=) | |
| 1 | g.68439610C>G | CA340746011 | RPE65 | c.676G>C (p.Val226Leu) c.400G>C (p.Val134Leu) | |
| 1 | g.68439610C>T | CA902426 | RPE65 | c.676G>A (p.Val226Ile) c.400G>A (p.Val134Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439611G>A | CA902427 | RPE65 | c.675C>T (p.Ile225=) c.399C>T (p.Ile133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.68439611G>C | CA203400 | RPE65 | c.675C>G (p.Ile225Met) c.399C>G (p.Ile133Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439611G= | CA1141397905 | RPE65 | c.675C= (p.Ile225=) c.399C= (p.Ile133=) | |
| 1 | g.68439611G>T | CA418281644 | RPE65 | c.675C>A (p.Ile225=) c.399C>A (p.Ile133=) | ClinVar dbSNP |
| 1 | g.68439612A= | CA1173561384 | RPE65 | c.674T= (p.Ile225=) c.398T= (p.Ile133=) | |
| 1 | g.68439612A>C | CA340746012 | RPE65 | c.674T>G (p.Ile225Ser) c.398T>G (p.Ile133Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68439612A>G | CA340746013 | RPE65 | c.674T>C (p.Ile225Thr) c.398T>C (p.Ile133Thr) | dbSNP gnomAD v4 |
| 1 | g.68439612A>T | CA340746014 | RPE65 | c.674T>A (p.Ile225Asn) c.398T>A (p.Ile133Asn) | |
| 1 | g.68439612_68439614delinsATC | CA1173561383 | RPE65 | c.672_674delinsGAT (p.Glu224=) c.396_398delinsGAT (p.Glu132=) | |
| 1 | g.68439613T>A | CA340746015 | RPE65 | c.673A>T (p.Ile225Phe) c.397A>T (p.Ile133Phe) | |
| 1 | g.68439613T>C | CA902428 | RPE65 | c.673A>G (p.Ile225Val) c.397A>G (p.Ile133Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439613T>G | CA340746016 | RPE65 | c.673A>C (p.Ile225Leu) c.397A>C (p.Ile133Leu) | |
| 1 | g.68439613T= | CA1142235061 | RPE65 | c.673A= (p.Ile225=) c.397A= (p.Ile133=) | |
| 1 | g.68439616_68439617dup | CA2646149936 | RPE65 | c.672_673dup (p.Ile225ArgfsTer22) c.396_397dup (p.Ile133ArgfsTer22) | gnomAD v4 |
| 1 | g.68439616_68439617del | CA738202151 | RPE65 | c.672_673del (p.Glu224AspfsTer9) c.396_397del (p.Glu132AspfsTer9) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68439614C>A | CA340746017 | RPE65 | c.672G>T (p.Glu224Asp) c.396G>T (p.Glu132Asp) | |
| 1 | g.68439614C>G | CA340746018 | RPE65 | c.672G>C (p.Glu224Asp) c.396G>C (p.Glu132Asp) | |
| 1 | g.68439614C>T | CA418281652 | RPE65 | c.672G>A (p.Glu224=) c.396G>A (p.Glu132=) | COSMIC |
| 1 | g.68439615T>A | CA340746019 | RPE65 | c.671A>T (p.Glu224Val) c.395A>T (p.Glu132Val) | |
| 1 | g.68439615T>C | CA340746020 | RPE65 | c.671A>G (p.Glu224Gly) c.395A>G (p.Glu132Gly) | |
| 1 | g.68439615T>G | CA902429 | RPE65 | c.671A>C (p.Glu224Ala) c.395A>C (p.Glu132Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68439615T= | CA1146727847 | RPE65 | c.671A= (p.Glu224=) c.395A= (p.Glu132=) | |
| 1 | g.68439616C>A | CA23571070 | RPE65 | c.670G>T (p.Glu224Ter) c.394G>T (p.Glu132Ter) | dbSNP |
| 1 | g.68439616C= | CA1144078447 | RPE65 | c.670G= (p.Glu224=) c.394G= (p.Glu132=) | |
| 1 | g.68439616C>G | CA340746021 | RPE65 | c.670G>C (p.Glu224Gln) c.394G>C (p.Glu132Gln) | |
| 1 | g.68439616C>T | CA340746022 | RPE65 | c.670G>A (p.Glu224Lys) c.394G>A (p.Glu132Lys) | |
| 1 | g.68439617T>A | CA418281659 | RPE65 | c.669A>T (p.Ser223=) c.393A>T (p.Ser131=) | |
| 1 | g.68439617T>C | CA418281660 | RPE65 | c.669A>G (p.Ser223=) c.393A>G (p.Ser131=) | |
| 1 | g.68439617T>G | CA418281662 | RPE65 | c.669A>C (p.Ser223=) c.393A>C (p.Ser131=) | |
| 1 | g.68439618G>A | CA340746023 | RPE65 | c.668C>T (p.Ser223Leu) c.392C>T (p.Ser131Leu) | |
| 1 | g.68439618G>C | CA340746024 | RPE65 | c.668C>G (p.Ser223Ter) c.392C>G (p.Ser131Ter) | |
| 1 | g.68439618G>T | CA340746025 | RPE65 | c.668C>A (p.Ser223Ter) c.392C>A (p.Ser131Ter) | |
| 1 | g.68439619A>C | CA340746026 | RPE65 | c.667T>G (p.Ser223Ala) c.391T>G (p.Ser131Ala) | |
| 1 | g.68439619A>G | CA340746027 | RPE65 | c.667T>C (p.Ser223Pro) c.391T>C (p.Ser131Pro) | gnomAD v4 |
| 1 | g.68439619A>T | CA340746028 | RPE65 | c.667T>A (p.Ser223Thr) c.391T>A (p.Ser131Thr) | |
| 1 | g.68439620C>A | CA340746029 | RPE65 | c.666G>T (p.Lys222Asn) c.390G>T (p.Lys130Asn) | |
| 1 | g.68439620C= | CA1173561385 | RPE65 | c.666G= (p.Lys222=) c.390G= (p.Lys130=) | |
| 1 | g.68439620C>G | CA340746030 | RPE65 | c.666G>C (p.Lys222Asn) c.390G>C (p.Lys130Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68439620C>T | CA418281666 | RPE65 | c.666G>A (p.Lys222=) c.390G>A (p.Lys130=) | gnomAD v4 |
| 1 | g.68439621T>A | CA340746033 | RPE65 | c.665A>T (p.Lys222Met) c.389A>T (p.Lys130Met) | |
| 1 | g.68439621T>C | CA340746032 | RPE65 | c.665A>G (p.Lys222Arg) c.389A>G (p.Lys130Arg) | |
| 1 | g.68439621T>G | CA340746031 | RPE65 | c.665A>C (p.Lys222Thr) c.389A>C (p.Lys130Thr) |