| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68429684T>C | CA2646149620 | RPE65 | c.*92A>G (n.*92A>G) | gnomAD v4 |
| 1 | g.68429685A>G | CA2646149621 | RPE65 | c.*91T>C (n.*91T>C) | gnomAD v4 |
| 1 | g.68429686T>C | CA23562339 | RPE65 | c.*90A>G (n.*90A>G) | dbSNP gnomAD v4 |
| 1 | g.68429686T= | CA1173557382 | RPE65 | c.*90A= (n.*90A=) | |
| 1 | g.68429687A= | CA1173557383 | RPE65 | c.*89T= (n.*89T=) | |
| 1 | g.68429687A>T | CA738208261 | RPE65 | c.*89T>A (n.*89T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429688G>A | CA2646149625 | RPE65 | c.*88C>T (n.*88C>T) | gnomAD v4 |
| 1 | g.68429688G>T | CA2574402848 | RPE65 | c.*88C>A (n.*88C>A) | gnomAD v4 |
| 1 | g.68429689C>T | CA2517306708 | RPE65 | c.*87G>A (n.*87G>A) | |
| 1 | g.68429690A>G | CA2646149626 | RPE65 | c.*86T>C (n.*86T>C) | gnomAD v4 |
| 1 | g.68429691G>T | CA2646149627 | RPE65 | c.*85C>A (n.*85C>A) | gnomAD v4 |
| 1 | g.68429692G>A | CA2646149628 | RPE65 | c.*84C>T (n.*84C>T) | gnomAD v4 |
| 1 | g.68429692G>T | CA2646149629 | RPE65 | c.*84C>A (n.*84C>A) | gnomAD v4 |
| 1 | g.68429693C>A | CA2646149630 | RPE65 | c.*83G>T (n.*83G>T) | gnomAD v4 |
| 1 | g.68429693C>G | CA2646149631 | RPE65 | c.*83G>C (n.*83G>C) | gnomAD v4 |
| 1 | g.68429693C>T | CA2510073683 | RPE65 | c.*83G>A (n.*83G>A) | |
| 1 | g.68429699T>A | CA523298725 | RPE65 | c.*77A>T (n.*77A>T) | dbSNP gnomAD v2 |
| 1 | g.68429699T>C | CA2646149632 | RPE65 | c.*77A>G (n.*77A>G) | gnomAD v4 |
| 1 | g.68429699T= | CA1173557384 | RPE65 | c.*77A= (n.*77A=) | |
| 1 | g.68429701G>C | CA23562344 | RPE65 | c.*75C>G (n.*75C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429701G= | CA1173557385 | RPE65 | c.*75C= (n.*75C=) | |
| 1 | g.68429701G>T | CA2646149636 | RPE65 | c.*75C>A (n.*75C>A) | gnomAD v4 |
| 1 | g.68429703A= | CA1173557386 | RPE65 | c.*73T= (n.*73T=) | |
| 1 | g.68429703A>G | CA23562345 | RPE65 | c.*73T>C (n.*73T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429704C= | CA1173557387 | RPE65 | c.*72G= (n.*72G=) | |
| 1 | g.68429704C>G | CA2646149638 | RPE65 | c.*72G>C (n.*72G>C) | gnomAD v4 |
| 1 | g.68429704C>T | CA23562346 | RPE65 | c.*72G>A (n.*72G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429705del | CA2646149640 | RPE65 | c.*71del (n.*71del) | gnomAD v4 |
| 1 | g.68429705A>G | CA2646149641 | RPE65 | c.*71T>C (n.*71T>C) | gnomAD v4 |
| 1 | g.68429706G>T | CA2646149643 | RPE65 | c.*70C>A (n.*70C>A) | gnomAD v4 |
| 1 | g.68429709T>C | CA23562350 | RPE65 | c.*67A>G (n.*67A>G) | dbSNP gnomAD v4 |
| 1 | g.68429709T= | CA1173557388 | RPE65 | c.*67A= (n.*67A=) | |
| 1 | g.68429712G>A | CA23562353 | RPE65 | c.*64C>T (n.*64C>T) | dbSNP gnomAD v4 |
| 1 | g.68429712G>C | CA738208269 | RPE65 | c.*64C>G (n.*64C>G) | dbSNP |
| 1 | g.68429712G= | CA1173557390 | RPE65 | c.*64C= (n.*64C=) | |
| 1 | g.68429712G>T | CA1173557389 | RPE65 | c.*64C>A (n.*64C>A) | dbSNP gnomAD v4 |
| 1 | g.68429714T>C | CA2646149653 | RPE65 | c.*62A>G (n.*62A>G) | gnomAD v4 |
| 1 | g.68429714T>G | CA2646149654 | RPE65 | c.*62A>C (n.*62A>C) | gnomAD v4 |
| 1 | g.68429715del | CA2646149652 | RPE65 | c.*62del (n.*62del) | gnomAD v4 |
| 1 | g.68429715T>A | CA2646149656 | RPE65 | c.*61A>T (n.*61A>T) | gnomAD v4 |
| 1 | g.68429715T>C | CA2646149657 | RPE65 | c.*61A>G (n.*61A>G) | gnomAD v4 |
| 1 | g.68429715T>G | CA23562355 | RPE65 | c.*61A>C (n.*61A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429715T= | CA1173557391 | RPE65 | c.*61A= (n.*61A=) | |
| 1 | g.68429716G>A | CA2646149659 | RPE65 | c.*60C>T (n.*60C>T) | gnomAD v4 |
| 1 | g.68429717C>A | CA2646149660 | RPE65 | c.*59G>T (n.*59G>T) | gnomAD v4 |
| 1 | g.68429717C= | CA1173557392 | RPE65 | c.*59G= (n.*59G=) | |
| 1 | g.68429717C>T | CA1173557393 | RPE65 | c.*59G>A (n.*59G>A) | dbSNP gnomAD v4 |
| 1 | g.68429719G>A | CA2574402849 | RPE65 | c.*57C>T (n.*57C>T) | gnomAD v4 |
| 1 | g.68429719G>C | CA2574402850 | RPE65 | c.*57C>G (n.*57C>G) | |
| 1 | g.68429719G>T | CA2574402851 | RPE65 | c.*57C>A (n.*57C>A) | gnomAD v4 |
| 1 | g.68429720A>G | CA2646149662 | RPE65 | c.*56T>C (n.*56T>C) | gnomAD v4 |
| 1 | g.68429721C= | CA1146485358 | RPE65 | c.*55G= (n.*55G=) | |
| 1 | g.68429721C>G | CA23562362 | RPE65 | c.*55G>C (n.*55G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429721C>T | CA2646149663 | RPE65 | c.*55G>A (n.*55G>A) | gnomAD v4 |
| 1 | g.68429722C= | CA1173557394 | RPE65 | c.*54G= (n.*54G=) | |
| 1 | g.68429722C>T | CA23562373 | RPE65 | c.*54G>A (n.*54G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429727G>A | CA1173557395 | RPE65 | c.*49C>T (n.*49C>T) | dbSNP gnomAD v4 |
| 1 | g.68429727G= | CA1173557396 | RPE65 | c.*49C= (n.*49C=) | |
| 1 | g.68429728C= | CA1173557397 | RPE65 | c.*48G= (n.*48G=) | |
| 1 | g.68429728C>T | CA902114 | RPE65 | c.*48G>A (n.*48G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429729_68429730insAC | CA2744008981 | RPE65 | c.*46_*47insGT (n.*46_*47insGT) | |
| 1 | g.68429730G>A | CA523298726 | RPE65 | c.*46C>T (n.*46C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429730G>C | CA1173557399 | RPE65 | c.*46C>G (n.*46C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429730G= | CA1173557398 | RPE65 | c.*46C= (n.*46C=) | |
| 1 | g.68429730G>T | CA2646149667 | RPE65 | c.*46C>A (n.*46C>A) | gnomAD v4 |
| 1 | g.68429730_68429731insT | CA2646149668 | RPE65 | c.*45_*46insA (n.*45_*46insA) | gnomAD v4 |
| 1 | g.68429731A= | CA1173557400 | RPE65 | c.*45T= (n.*45T=) | |
| 1 | g.68429731A>C | CA902116 | RPE65 | c.*45T>G (n.*45T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429731_68429732delinsAT | CA1173557401 | RPE65 | c.*44_*45delinsAT (n.*44_*45delinsAT) | |
| 1 | g.68429735dup | CA1002830232 | RPE65 | c.*44dup (n.*44dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429735del | CA902115 | RPE65 | c.*44del (n.*44del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429736C>T | CA2646149669 | RPE65 | c.*40G>A (n.*40G>A) | gnomAD v4 |
| 1 | g.68429737T>A | CA1002830233 | RPE65 | c.*39A>T (n.*39A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429737T>C | CA2744008982 | RPE65 | c.*39A>G (n.*39A>G) | |
| 1 | g.68429737T= | CA1173557402 | RPE65 | c.*39A= (n.*39A=) | |
| 1 | g.68429738_68429739del | CA2646149670 | RPE65 | c.*37_*38del (n.*37_*38del) | gnomAD v4 |
| 1 | g.68429739A= | CA1173557403 | RPE65 | c.*37T= (n.*37T=) | |
| 1 | g.68429739A>C | CA1173557404 | RPE65 | c.*37T>G (n.*37T>G) | dbSNP |
| 1 | g.68429740del | CA2646149671 | RPE65 | c.*36del (n.*36del) | gnomAD v4 |
| 1 | g.68429740G>C | CA902117 | RPE65 | c.*36C>G (n.*36C>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.68429740G= | CA1173557405 | RPE65 | c.*36C= (n.*36C=) | |
| 1 | g.68429743T>C | CA2646149672 | RPE65 | c.*33A>G (n.*33A>G) | gnomAD v4 |
| 1 | g.68429745G>A | CA738208280 | RPE65 | c.*31C>T (n.*31C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429745G= | CA1173557406 | RPE65 | c.*31C= (n.*31C=) | |
| 1 | g.68429745G>T | CA902118 | RPE65 | c.*31C>A (n.*31C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429749C= | CA1173557407 | RPE65 | c.*27G= (n.*27G=) | |
| 1 | g.68429749C>T | CA902119 | RPE65 | c.*27G>A (n.*27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429750C= | CA1173557408 | RPE65 | c.*26G= (n.*26G=) | |
| 1 | g.68429750C>T | CA902120 | RPE65 | c.*26G>A (n.*26G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429755del | CA2646149673 | RPE65 | c.*25del (n.*25del) | gnomAD v4 |
| 1 | g.68429754A= | CA1173557409 | RPE65 | c.*22T= (n.*22T=) | |
| 1 | g.68429754A>C | CA738208285 | RPE65 | c.*22T>G (n.*22T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429755A= | CA1173557410 | RPE65 | c.*21T= (n.*21T=) | |
| 1 | g.68429755A>G | CA738208296 | RPE65 | c.*21T>C (n.*21T>C) | dbSNP gnomAD v4 |
| 1 | g.68429755A>T | CA2646149674 | RPE65 | c.*21T>A (n.*21T>A) | gnomAD v4 |
| 1 | g.68429756C>T | CA2646149675 | RPE65 | c.*20G>A (n.*20G>A) | gnomAD v4 |
| 1 | g.68429757A= | CA1173557411 | RPE65 | c.*19T= (n.*19T=) | |
| 1 | g.68429757A>C | CA902121 | RPE65 | c.*19T>G (n.*19T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429757A>G | CA23562455 | RPE65 | c.*19T>C (n.*19T>C) | dbSNP gnomAD v4 |
| 1 | g.68429759A= | CA1173557412 | RPE65 | c.*17T= (n.*17T=) | |
| 1 | g.68429759A>C | CA2646149676 | RPE65 | c.*17T>G (n.*17T>G) | gnomAD v4 |
| 1 | g.68429759A>G | CA523298727 | RPE65 | c.*17T>C (n.*17T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429763T>C | CA1173557414 | RPE65 | c.*13A>G (n.*13A>G) | dbSNP gnomAD v4 |
| 1 | g.68429763T= | CA1173557413 | RPE65 | c.*13A= (n.*13A=) | |
| 1 | g.68429764G>A | CA902123 | RPE65 | c.*12C>T (n.*12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429764G= | CA1173557415 | RPE65 | c.*12C= (n.*12C=) | |
| 1 | g.68429764G>T | CA902122 | RPE65 | c.*12C>A (n.*12C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429765C>A | CA2744008983 | RPE65 | c.*11G>T (n.*11G>T) | |
| 1 | g.68429765C>T | CA2574402852 | RPE65 | c.*11G>A (n.*11G>A) | gnomAD v4 |
| 1 | g.68429768G>A | CA2646149677 | RPE65 | c.*8C>T (n.*8C>T) | gnomAD v4 |
| 1 | g.68429770G>A | CA902124 | RPE65 | c.*6C>T (n.*6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429770G= | CA1173557416 | RPE65 | c.*6C= (n.*6C=) | |
| 1 | g.68429773T>C | CA2646149678 | RPE65 | c.*3A>G (n.*3A>G) | gnomAD v4 |
| 1 | g.68429774G>C | CA2646149679 | RPE65 | c.*2C>G (n.*2C>G) | gnomAD v4 |
| 1 | g.68429775C>A | CA2646149680 | RPE65 | c.*1G>T (n.*1G>T) | gnomAD v4 |
| 1 | g.68429775C>T | CA2646149681 | RPE65 | c.*1G>A (n.*1G>A) | gnomAD v4 |
| 1 | g.68429776T>A | CA340740488 | RPE65 | c.1602A>T (p.Ter534Cys) c.1326A>T (p.Ter442Cys) | |
| 1 | g.68429776T>C | CA340740490 | RPE65 | c.1602A>G (p.Ter534Trp) c.1326A>G (p.Ter442Trp) | |
| 1 | g.68429776T>G | CA340740492 | RPE65 | c.1602A>C (p.Ter534Cys) c.1326A>C (p.Ter442Cys) | |
| 1 | g.68429777C>A | CA340740494 | RPE65 | c.1601G>T (p.Ter534Leu) c.1325G>T (p.Ter442Leu) | |
| 1 | g.68429777C>G | CA340740496 | RPE65 | c.1601G>C (p.Ter534Ser) c.1325G>C (p.Ter442Ser) | |
| 1 | g.68429777C>T | CA418275517 | RPE65 | c.1601G>A (p.Ter534=) c.1325G>A (p.Ter442=) | |
| 1 | g.68429778A>C | CA340740499 | RPE65 | c.1600T>G (p.Ter534Gly) c.1324T>G (p.Ter442Gly) | |
| 1 | g.68429778A>G | CA340740500 | RPE65 | c.1600T>C (p.Ter534Arg) c.1324T>C (p.Ter442Arg) | |
| 1 | g.68429778A>T | CA340740502 | RPE65 | c.1600T>A (p.Ter534Arg) c.1324T>A (p.Ter442Arg) | |
| 1 | g.68429779A>C | CA418275522 | RPE65 | c.1599T>G (p.Ser533=) c.1323T>G (p.Ser441=) | |
| 1 | g.68429779A>G | CA418275524 | RPE65 | c.1599T>C (p.Ser533=) c.1323T>C (p.Ser441=) | |
| 1 | g.68429779A>T | CA418275525 | RPE65 | c.1599T>A (p.Ser533=) c.1323T>A (p.Ser441=) | |
| 1 | g.68429780G>A | CA23562467 | RPE65 | c.1598C>T (p.Ser533Phe) c.1322C>T (p.Ser441Phe) | dbSNP |
| 1 | g.68429780G>C | CA340740507 | RPE65 | c.1598C>G (p.Ser533Cys) c.1322C>G (p.Ser441Cys) | |
| 1 | g.68429780G= | CA1173557417 | RPE65 | c.1598C= (p.Ser533=) c.1322C= (p.Ser441=) | |
| 1 | g.68429780G>T | CA340740505 | RPE65 | c.1598C>A (p.Ser533Tyr) c.1322C>A (p.Ser441Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68429781A= | CA1148051065 | RPE65 | c.1597T= (p.Ser533=) c.1321T= (p.Ser441=) | |
| 1 | g.68429781A>C | CA340740510 | RPE65 | c.1597T>G (p.Ser533Ala) c.1321T>G (p.Ser441Ala) | |
| 1 | g.68429781A>G | CA340740512 | RPE65 | c.1597T>C (p.Ser533Pro) c.1321T>C (p.Ser441Pro) | |
| 1 | g.68429781A>T | CA902125 | RPE65 | c.1597T>A (p.Ser533Thr) c.1321T>A (p.Ser441Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429782T>A | CA340740515 | RPE65 | c.1596A>T (p.Lys532Asn) c.1320A>T (p.Lys440Asn) | |
| 1 | g.68429782T>C | CA418275534 | RPE65 | c.1596A>G (p.Lys532=) c.1320A>G (p.Lys440=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68429782T>G | CA340740516 | RPE65 | c.1596A>C (p.Lys532Asn) c.1320A>C (p.Lys440Asn) | |
| 1 | g.68429782T= | CA1173557418 | RPE65 | c.1596A= (p.Lys532=) c.1320A= (p.Lys440=) | |
| 1 | g.68429787dup | CA1139655485 | RPE65 | c.1596dup (p.Ser533IlefsTer30) c.1320dup (p.Ser441IlefsTer30) | ClinVar dbSNP |
| 1 | g.68429783T>A | CA340740518 | RPE65 | c.1595A>T (p.Lys532Ile) c.1319A>T (p.Lys440Ile) | gnomAD v4 |
| 1 | g.68429783T>C | CA340740519 | RPE65 | c.1595A>G (p.Lys532Arg) c.1319A>G (p.Lys440Arg) | |
| 1 | g.68429783T>G | CA340740521 | RPE65 | c.1595A>C (p.Lys532Thr) c.1319A>C (p.Lys440Thr) | |
| 1 | g.68429784T>A | CA340740523 | RPE65 | c.1594A>T (p.Lys532Ter) c.1318A>T (p.Lys440Ter) | |
| 1 | g.68429784T>C | CA340740524 | RPE65 | c.1594A>G (p.Lys532Glu) c.1318A>G (p.Lys440Glu) | |
| 1 | g.68429784T>G | CA340740527 | RPE65 | c.1594A>C (p.Lys532Gln) c.1318A>C (p.Lys440Gln) |