| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.68429785T>A | CA340740529 | RPE65 | c.1593A>T (p.Lys531Asn) c.1317A>T (p.Lys439Asn) | |
| 1 | g.68429785T>C | CA418275543 | RPE65 | c.1593A>G (p.Lys531=) c.1317A>G (p.Lys439=) | |
| 1 | g.68429785T>G | CA340740530 | RPE65 | c.1593A>C (p.Lys531Asn) c.1317A>C (p.Lys439Asn) | |
| 1 | g.68429786T>A | CA340740540 | RPE65 | c.1592A>T (p.Lys531Ile) c.1316A>T (p.Lys439Ile) | |
| 1 | g.68429786T>C | CA340740534 | RPE65 | c.1592A>G (p.Lys531Arg) c.1316A>G (p.Lys439Arg) | |
| 1 | g.68429786T>G | CA340740538 | RPE65 | c.1592A>C (p.Lys531Thr) c.1316A>C (p.Lys439Thr) | |
| 1 | g.68429787T>A | CA340740542 | RPE65 | c.1591A>T (p.Lys531Ter) c.1315A>T (p.Lys439Ter) | |
| 1 | g.68429787T>C | CA340740544 | RPE65 | c.1591A>G (p.Lys531Glu) c.1315A>G (p.Lys439Glu) | |
| 1 | g.68429787T>G | CA340740547 | RPE65 | c.1591A>C (p.Lys531Gln) c.1315A>C (p.Lys439Gln) | |
| 1 | g.68429787_68429788delinsTG | CA1173557419 | RPE65 | c.1590_1591delinsCA (p.Phe530=) c.1314_1315delinsCA (p.Phe438=) | |
| 1 | g.68429788del | CA226522 | RPE65 | c.1590del (p.Phe530LeufsTer?) c.1314del (p.Phe438LeufsTer?) | ClinVar dbSNP |
| 1 | g.68429788G>A | CA418275553 | RPE65 | c.1590C>T (p.Phe530=) c.1314C>T (p.Phe438=) | |
| 1 | g.68429788G>C | CA340740548 | RPE65 | c.1590C>G (p.Phe530Leu) c.1314C>G (p.Phe438Leu) | |
| 1 | g.68429788G= | CA1143538033 | RPE65 | c.1590C= (p.Phe530=) c.1314C= (p.Phe438=) | |
| 1 | g.68429788G>T | CA340740550 | RPE65 | c.1590C>A (p.Phe530Leu) c.1314C>A (p.Phe438Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68429789A>C | CA340740552 | RPE65 | c.1589T>G (p.Phe530Cys) c.1313T>G (p.Phe438Cys) | |
| 1 | g.68429789A>G | CA340740553 | RPE65 | c.1589T>C (p.Phe530Ser) c.1313T>C (p.Phe438Ser) | gnomAD v4 |
| 1 | g.68429789A>T | CA340740554 | RPE65 | c.1589T>A (p.Phe530Tyr) c.1313T>A (p.Phe438Tyr) | |
| 1 | g.68429790A>C | CA340740555 | RPE65 | c.1588T>G (p.Phe530Val) c.1312T>G (p.Phe438Val) | |
| 1 | g.68429790A>G | CA340740556 | RPE65 | c.1588T>C (p.Phe530Leu) c.1312T>C (p.Phe438Leu) | |
| 1 | g.68429790A>T | CA340740557 | RPE65 | c.1588T>A (p.Phe530Ile) c.1312T>A (p.Phe438Ile) | |
| 1 | g.68429790_68429798del | CA2646149682 | RPE65 | c.1580_1588del (p.His527_Phe530delinsLeu) c.1304_1312del (p.His435_Phe438delinsLeu) | gnomAD v4 |
| 1 | g.68429791C>A | CA418275561 | RPE65 | c.1587G>T (p.Leu529=) c.1311G>T (p.Leu437=) | gnomAD v4 |
| 1 | g.68429791C>G | CA418275562 | RPE65 | c.1587G>C (p.Leu529=) c.1311G>C (p.Leu437=) | ClinVar |
| 1 | g.68429791C>T | CA418275564 | RPE65 | c.1587G>A (p.Leu529=) c.1311G>A (p.Leu437=) | |
| 1 | g.68429792A>C | CA340740560 | RPE65 | c.1586T>G (p.Leu529Arg) c.1310T>G (p.Leu437Arg) | |
| 1 | g.68429792A>G | CA340740562 | RPE65 | c.1586T>C (p.Leu529Pro) c.1310T>C (p.Leu437Pro) | |
| 1 | g.68429792A>T | CA340740561 | RPE65 | c.1586T>A (p.Leu529Gln) c.1310T>A (p.Leu437Gln) | |
| 1 | g.68429793G>A | CA418275570 | RPE65 | c.1585C>T (p.Leu529=) c.1309C>T (p.Leu437=) | |
| 1 | g.68429793G>C | CA340740563 | RPE65 | c.1585C>G (p.Leu529Val) c.1309C>G (p.Leu437Val) | |
| 1 | g.68429793G>T | CA340740565 | RPE65 | c.1585C>A (p.Leu529Met) c.1309C>A (p.Leu437Met) | |
| 1 | g.68429794T>A | CA418275572 | RPE65 | c.1584A>T (p.Gly528=) c.1308A>T (p.Gly436=) | |
| 1 | g.68429794T>C | CA418275573 | RPE65 | c.1584A>G (p.Gly528=) c.1308A>G (p.Gly436=) | ClinVar dbSNP |
| 1 | g.68429794T>G | CA418275575 | RPE65 | c.1584A>C (p.Gly528=) c.1308A>C (p.Gly436=) | |
| 1 | g.68429795C>A | CA340740566 | RPE65 | c.1583G>T (p.Gly528Val) c.1307G>T (p.Gly436Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68429795C= | CA1173557420 | RPE65 | c.1583G= (p.Gly528=) c.1307G= (p.Gly436=) | |
| 1 | g.68429795C>G | CA340740570 | RPE65 | c.1583G>C (p.Gly528Ala) c.1307G>C (p.Gly436Ala) | gnomAD v4 |
| 1 | g.68429795C>T | CA340740567 | RPE65 | c.1583G>A (p.Gly528Glu) c.1307G>A (p.Gly436Glu) | |
| 1 | g.68429796C>A | CA340740572 | RPE65 | c.1582G>T (p.Gly528Ter) c.1306G>T (p.Gly436Ter) | |
| 1 | g.68429796C= | CA1142388964 | RPE65 | c.1582G= (p.Gly528=) c.1306G= (p.Gly436=) | |
| 1 | g.68429796C>G | CA340740575 | RPE65 | c.1582G>C (p.Gly528Arg) c.1306G>C (p.Gly436Arg) | |
| 1 | g.68429796C>T | CA23562482 | RPE65 | c.1582G>A (p.Gly528Arg) c.1306G>A (p.Gly436Arg) | ClinVar dbSNP |
| 1 | g.68429797A= | CA1173557421 | RPE65 | c.1581T= (p.His527=) c.1305T= (p.His435=) | |
| 1 | g.68429797A>C | CA340740577 | RPE65 | c.1581T>G (p.His527Gln) c.1305T>G (p.His435Gln) | |
| 1 | g.68429797A>G | CA902126 | RPE65 | c.1581T>C (p.His527=) c.1305T>C (p.His435=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429797A>T | CA340740582 | RPE65 | c.1581T>A (p.His527Gln) c.1305T>A (p.His435Gln) | |
| 1 | g.68429798T>A | CA340740584 | RPE65 | c.1580A>T (p.His527Leu) c.1304A>T (p.His435Leu) | |
| 1 | g.68429798T>C | CA340740585 | RPE65 | c.1580A>G (p.His527Arg) c.1304A>G (p.His435Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68429798T>G | CA340740587 | RPE65 | c.1580A>C (p.His527Pro) c.1304A>C (p.His435Pro) | |
| 1 | g.68429798T= | CA1173557422 | RPE65 | c.1580A= (p.His527=) c.1304A= (p.His435=) | |
| 1 | g.68429799G>A | CA902128 | RPE65 | c.1579C>T (p.His527Tyr) c.1303C>T (p.His435Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429799G>C | CA340740590 | RPE65 | c.1579C>G (p.His527Asp) c.1303C>G (p.His435Asp) | |
| 1 | g.68429799G= | CA1173557424 | RPE65 | c.1579C= (p.His527=) c.1303C= (p.His435=) | |
| 1 | g.68429799G>T | CA340740592 | RPE65 | c.1579C>A (p.His527Asn) c.1303C>A (p.His435Asn) | |
| 1 | g.68429799_68429800delinsGA | CA1173557423 | RPE65 | c.1578_1579delinsTC (p.Phe526=) c.1302_1303delinsTC (p.Phe434=) | |
| 1 | g.68429800A>C | CA340740595 | RPE65 | c.1578T>G (p.Phe526Leu) c.1302T>G (p.Phe434Leu) | |
| 1 | g.68429800A>G | CA418275600 | RPE65 | c.1578T>C (p.Phe526=) c.1302T>C (p.Phe434=) | ClinVar |
| 1 | g.68429800A>T | CA340740597 | RPE65 | c.1578T>A (p.Phe526Leu) c.1302T>A (p.Phe434Leu) | |
| 1 | g.68429802del | CA902127 | RPE65 | c.1578del (p.His527MetfsTer?) c.1302del (p.His435MetfsTer?) | dbSNP ExAC |
| 1 | g.68429801A>C | CA340740598 | RPE65 | c.1577T>G (p.Phe526Cys) c.1301T>G (p.Phe434Cys) | |
| 1 | g.68429801A>G | CA340740603 | RPE65 | c.1577T>C (p.Phe526Ser) c.1301T>C (p.Phe434Ser) | |
| 1 | g.68429801A>T | CA340740600 | RPE65 | c.1577T>A (p.Phe526Tyr) c.1301T>A (p.Phe434Tyr) | |
| 1 | g.68429802A>C | CA340740605 | RPE65 | c.1576T>G (p.Phe526Val) c.1300T>G (p.Phe434Val) | |
| 1 | g.68429802A>G | CA340740607 | RPE65 | c.1576T>C (p.Phe526Leu) c.1300T>C (p.Phe434Leu) | |
| 1 | g.68429802A>T | CA340740609 | RPE65 | c.1576T>A (p.Phe526Ile) c.1300T>A (p.Phe434Ile) | |
| 1 | g.68429803G>A | CA902129 | RPE65 | c.1575C>T (p.Thr525=) c.1299C>T (p.Thr433=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429803G>C | CA418275617 | RPE65 | c.1575C>G (p.Thr525=) c.1299C>G (p.Thr433=) | |
| 1 | g.68429803G= | CA1142046334 | RPE65 | c.1575C= (p.Thr525=) c.1299C= (p.Thr433=) | |
| 1 | g.68429803G>T | CA418275616 | RPE65 | c.1575C>A (p.Thr525=) c.1299C>A (p.Thr433=) | |
| 1 | g.68429804G>A | CA23562514 | RPE65 | c.1574C>T (p.Thr525Ile) c.1298C>T (p.Thr433Ile) | dbSNP |
| 1 | g.68429804G>C | CA340740614 | RPE65 | c.1574C>G (p.Thr525Ser) c.1298C>G (p.Thr433Ser) | |
| 1 | g.68429804G= | CA1173557425 | RPE65 | c.1574C= (p.Thr525=) c.1298C= (p.Thr433=) | |
| 1 | g.68429804G>T | CA340740616 | RPE65 | c.1574C>A (p.Thr525Asn) c.1298C>A (p.Thr433Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68429805T>A | CA340740618 | RPE65 | c.1573A>T (p.Thr525Ser) c.1297A>T (p.Thr433Ser) | |
| 1 | g.68429805T>C | CA340740620 | RPE65 | c.1573A>G (p.Thr525Ala) c.1297A>G (p.Thr433Ala) | |
| 1 | g.68429805T>G | CA340740622 | RPE65 | c.1573A>C (p.Thr525Pro) c.1297A>C (p.Thr433Pro) | |
| 1 | g.68429806G>A | CA418275630 | RPE65 | c.1572C>T (p.Val524=) c.1296C>T (p.Val432=) | |
| 1 | g.68429806G>C | CA418275632 | RPE65 | c.1572C>G (p.Val524=) c.1296C>G (p.Val432=) | |
| 1 | g.68429806G>T | CA418275634 | RPE65 | c.1572C>A (p.Val524=) c.1296C>A (p.Val432=) | |
| 1 | g.68429807A>C | CA340740627 | RPE65 | c.1571T>G (p.Val524Gly) c.1295T>G (p.Val432Gly) | |
| 1 | g.68429807A>G | CA340740625 | RPE65 | c.1571T>C (p.Val524Ala) c.1295T>C (p.Val432Ala) | |
| 1 | g.68429807A>T | CA340740624 | RPE65 | c.1571T>A (p.Val524Asp) c.1295T>A (p.Val432Asp) | |
| 1 | g.68429808C>A | CA340740634 | RPE65 | c.1570G>T (p.Val524Phe) c.1294G>T (p.Val432Phe) | |
| 1 | g.68429808C>G | CA340740629 | RPE65 | c.1570G>C (p.Val524Leu) c.1294G>C (p.Val432Leu) | |
| 1 | g.68429808C>T | CA340740632 | RPE65 | c.1570G>A (p.Val524Ile) c.1294G>A (p.Val432Ile) | |
| 1 | g.68429809A>C | CA418275655 | RPE65 | c.1569T>G (p.Pro523=) c.1293T>G (p.Pro431=) | |
| 1 | g.68429809A>G | CA418275656 | RPE65 | c.1569T>C (p.Pro523=) c.1293T>C (p.Pro431=) | |
| 1 | g.68429809A>T | CA418275660 | RPE65 | c.1569T>A (p.Pro523=) c.1293T>A (p.Pro431=) | |
| 1 | g.68429810G>A | CA340740637 | RPE65 | c.1568C>T (p.Pro523Leu) c.1292C>T (p.Pro431Leu) | |
| 1 | g.68429810G>C | CA340740639 | RPE65 | c.1568C>G (p.Pro523Arg) c.1292C>G (p.Pro431Arg) | |
| 1 | g.68429810G>T | CA340740641 | RPE65 | c.1568C>A (p.Pro523His) c.1292C>A (p.Pro431His) | |
| 1 | g.68429811G>A | CA23562518 | RPE65 | c.1567C>T (p.Pro523Ser) c.1291C>T (p.Pro431Ser) | dbSNP |
| 1 | g.68429811G>C | CA340740644 | RPE65 | c.1567C>G (p.Pro523Ala) c.1291C>G (p.Pro431Ala) | |
| 1 | g.68429811G= | CA1173557426 | RPE65 | c.1567C= (p.Pro523=) c.1291C= (p.Pro431=) | |
| 1 | g.68429811G>T | CA340740645 | RPE65 | c.1567C>A (p.Pro523Thr) c.1291C>A (p.Pro431Thr) | |
| 1 | g.68429812G>A | CA418275677 | RPE65 | c.1566C>T (p.Ile522=) c.1290C>T (p.Ile430=) | |
| 1 | g.68429812G>C | CA340740647 | RPE65 | c.1566C>G (p.Ile522Met) c.1290C>G (p.Ile430Met) | |
| 1 | g.68429812G= | CA1173557427 | RPE65 | c.1566C= (p.Ile522=) c.1290C= (p.Ile430=) | |
| 1 | g.68429812G>T | CA418275674 | RPE65 | c.1566C>A (p.Ile522=) c.1290C>A (p.Ile430=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429813A>C | CA340740650 | RPE65 | c.1565T>G (p.Ile522Ser) c.1289T>G (p.Ile430Ser) | |
| 1 | g.68429813A>G | CA340740651 | RPE65 | c.1565T>C (p.Ile522Thr) c.1289T>C (p.Ile430Thr) | |
| 1 | g.68429813A>T | CA340740652 | RPE65 | c.1565T>A (p.Ile522Asn) c.1289T>A (p.Ile430Asn) | |
| 1 | g.68429814T>A | CA340740657 | RPE65 | c.1564A>T (p.Ile522Phe) c.1288A>T (p.Ile430Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429814T>C | CA23562520 | RPE65 | c.1564A>G (p.Ile522Val) c.1288A>G (p.Ile430Val) | dbSNP |
| 1 | g.68429814T>G | CA340740655 | RPE65 | c.1564A>C (p.Ile522Leu) c.1288A>C (p.Ile430Leu) | |
| 1 | g.68429814T= | CA1173557428 | RPE65 | c.1564A= (p.Ile522=) c.1288A= (p.Ile430=) | |
| 1 | g.68429815G>A | CA418275688 | RPE65 | c.1563C>T (p.Asn521=) c.1287C>T (p.Asn429=) | ClinVar |
| 1 | g.68429815G>C | CA340740658 | RPE65 | c.1563C>G (p.Asn521Lys) c.1287C>G (p.Asn429Lys) | |
| 1 | g.68429815G>T | CA340740665 | RPE65 | c.1563C>A (p.Asn521Lys) c.1287C>A (p.Asn429Lys) | |
| 1 | g.68429816T>A | CA23562522 | RPE65 | c.1562A>T (p.Asn521Ile) c.1286A>T (p.Asn429Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68429816T>C | CA340740671 | RPE65 | c.1562A>G (p.Asn521Ser) c.1286A>G (p.Asn429Ser) | |
| 1 | g.68429816T>G | CA340740673 | RPE65 | c.1562A>C (p.Asn521Thr) c.1286A>C (p.Asn429Thr) | dbSNP |
| 1 | g.68429816T= | CA1143431948 | RPE65 | c.1562A= (p.Asn521=) c.1286A= (p.Asn429=) | |
| 1 | g.68429817T>A | CA340740675 | RPE65 | c.1561A>T (p.Asn521Tyr) c.1285A>T (p.Asn429Tyr) | |
| 1 | g.68429817T>C | CA340740677 | RPE65 | c.1561A>G (p.Asn521Asp) c.1285A>G (p.Asn429Asp) | |
| 1 | g.68429817T>G | CA340740679 | RPE65 | c.1561A>C (p.Asn521His) c.1285A>C (p.Asn429His) | |
| 1 | g.68429818A>C | CA340740681 | RPE65 | c.1560T>G (p.Ile520Met) c.1284T>G (p.Ile428Met) | |
| 1 | g.68429818A>G | CA418275704 | RPE65 | c.1560T>C (p.Ile520=) c.1284T>C (p.Ile428=) | |
| 1 | g.68429818A>T | CA418275706 | RPE65 | c.1560T>A (p.Ile520=) c.1284T>A (p.Ile428=) | ClinVar |
| 1 | g.68429819A= | CA1143538034 | RPE65 | c.1559T= (p.Ile520=) c.1283T= (p.Ile428=) | |
| 1 | g.68429819A>C | CA340740683 | RPE65 | c.1559T>G (p.Ile520Ser) c.1283T>G (p.Ile428Ser) | |
| 1 | g.68429819A>G | CA226520 | RPE65 | c.1559T>C (p.Ile520Thr) c.1283T>C (p.Ile428Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429819A>T | CA340740685 | RPE65 | c.1559T>A (p.Ile520Asn) c.1283T>A (p.Ile428Asn) | |
| 1 | g.68429820T>A | CA340740689 | RPE65 | c.1558A>T (p.Ile520Phe) c.1282A>T (p.Ile428Phe) | |
| 1 | g.68429820T>C | CA340740695 | RPE65 | c.1558A>G (p.Ile520Val) c.1282A>G (p.Ile428Val) | dbSNP gnomAD v4 |
| 1 | g.68429820T>G | CA340740687 | RPE65 | c.1558A>C (p.Ile520Leu) c.1282A>C (p.Ile428Leu) | |
| 1 | g.68429820T= | CA1173557429 | RPE65 | c.1558A= (p.Ile520=) c.1282A= (p.Ile428=) | |
| 1 | g.68429821C>A | CA340740696 | RPE65 | c.1557G>T (p.Glu519Asp) c.1281G>T (p.Glu427Asp) | |
| 1 | g.68429821C>G | CA340740698 | RPE65 | c.1557G>C (p.Glu519Asp) c.1281G>C (p.Glu427Asp) | |
| 1 | g.68429821C>T | CA418275721 | RPE65 | c.1557G>A (p.Glu519=) c.1281G>A (p.Glu427=) | |
| 1 | g.68429822T>A | CA340740699 | RPE65 | c.1556A>T (p.Glu519Val) c.1280A>T (p.Glu427Val) | |
| 1 | g.68429822T>C | CA340740701 | RPE65 | c.1556A>G (p.Glu519Gly) c.1280A>G (p.Glu427Gly) | |
| 1 | g.68429822T>G | CA340740706 | RPE65 | c.1556A>C (p.Glu519Ala) c.1280A>C (p.Glu427Ala) | |
| 1 | g.68429823C>A | CA340740708 | RPE65 | c.1555G>T (p.Glu519Ter) c.1279G>T (p.Glu427Ter) | |
| 1 | g.68429823C= | CA1143917445 | RPE65 | c.1555G= (p.Glu519=) c.1279G= (p.Glu427=) | |
| 1 | g.68429823C>G | CA340740709 | RPE65 | c.1555G>C (p.Glu519Gln) c.1279G>C (p.Glu427Gln) | |
| 1 | g.68429823C>T | CA902130 | RPE65 | c.1555G>A (p.Glu519Lys) c.1279G>A (p.Glu427Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429824C>A | CA418275746 | RPE65 | c.1554G>T (p.Val518=) c.1278G>T (p.Val426=) | COSMIC |
| 1 | g.68429824C= | CA1173557430 | RPE65 | c.1554G= (p.Val518=) c.1278G= (p.Val426=) | |
| 1 | g.68429824C>G | CA418275748 | RPE65 | c.1554G>C (p.Val518=) c.1278G>C (p.Val426=) | |
| 1 | g.68429824C>T | CA902131 | RPE65 | c.1554G>A (p.Val518=) c.1278G>A (p.Val426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429825A= | CA1173557431 | RPE65 | c.1553T= (p.Val518=) c.1277T= (p.Val426=) | |
| 1 | g.68429825A>C | CA340741002 | RPE65 | c.1553T>G (p.Val518Gly) c.1277T>G (p.Val426Gly) | |
| 1 | g.68429825A>G | CA340741004 | RPE65 | c.1553T>C (p.Val518Ala) c.1277T>C (p.Val426Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429825A>T | CA340741005 | RPE65 | c.1553T>A (p.Val518Glu) c.1277T>A (p.Val426Glu) | |
| 1 | g.68429826C>A | CA340741006 | RPE65 | c.1552G>T (p.Val518Leu) c.1276G>T (p.Val426Leu) | |
| 1 | g.68429826C= | CA1173557432 | RPE65 | c.1552G= (p.Val518=) c.1276G= (p.Val426=) | |
| 1 | g.68429826C>G | CA340741008 | RPE65 | c.1552G>C (p.Val518Leu) c.1276G>C (p.Val426Leu) | |
| 1 | g.68429826C>T | CA902132 | RPE65 | c.1552G>A (p.Val518Met) c.1276G>A (p.Val426Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429827T>A | CA340741011 | RPE65 | c.1551A>T (p.Glu517Asp) c.1275A>T (p.Glu425Asp) | |
| 1 | g.68429827T>C | CA418276122 | RPE65 | c.1551A>G (p.Glu517=) c.1275A>G (p.Glu425=) | |
| 1 | g.68429827T>G | CA340741013 | RPE65 | c.1551A>C (p.Glu517Asp) c.1275A>C (p.Glu425Asp) | |
| 1 | g.68429828T>A | CA340741016 | RPE65 | c.1550A>T (p.Glu517Val) c.1274A>T (p.Glu425Val) | |
| 1 | g.68429828T>C | CA340741017 | RPE65 | c.1550A>G (p.Glu517Gly) c.1274A>G (p.Glu425Gly) | |
| 1 | g.68429828T>G | CA340741020 | RPE65 | c.1550A>C (p.Glu517Ala) c.1274A>C (p.Glu425Ala) | |
| 1 | g.68429829C>A | CA340741025 | RPE65 | c.1549G>T (p.Glu517Ter) c.1273G>T (p.Glu425Ter) | COSMIC |
| 1 | g.68429829C>G | CA340741027 | RPE65 | c.1549G>C (p.Glu517Gln) c.1273G>C (p.Glu425Gln) | |
| 1 | g.68429829C>T | CA340741028 | RPE65 | c.1549G>A (p.Glu517Lys) c.1273G>A (p.Glu425Lys) | |
| 1 | g.68429830A= | CA1145672067 | RPE65 | c.1548T= (p.Ala516=) c.1272T= (p.Ala424=) | |
| 1 | g.68429830A>C | CA418276129 | RPE65 | c.1548T>G (p.Ala516=) c.1272T>G (p.Ala424=) | |
| 1 | g.68429830A>G | CA902133 | RPE65 | c.1548T>C (p.Ala516=) c.1272T>C (p.Ala424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429830A>T | CA418276131 | RPE65 | c.1548T>A (p.Ala516=) c.1272T>A (p.Ala424=) | gnomAD v4 |
| 1 | g.68429831G>A | CA340741030 | RPE65 | c.1547C>T (p.Ala516Val) c.1271C>T (p.Ala424Val) | |
| 1 | g.68429831G>C | CA340741032 | RPE65 | c.1547C>G (p.Ala516Gly) c.1271C>G (p.Ala424Gly) | |
| 1 | g.68429831G>T | CA340741034 | RPE65 | c.1547C>A (p.Ala516Asp) c.1271C>A (p.Ala424Asp) | |
| 1 | g.68429832C>A | CA340741041 | RPE65 | c.1546G>T (p.Ala516Ser) c.1270G>T (p.Ala424Ser) | |
| 1 | g.68429832C>G | CA340741039 | RPE65 | c.1546G>C (p.Ala516Pro) c.1270G>C (p.Ala424Pro) | |
| 1 | g.68429832C>T | CA340741037 | RPE65 | c.1546G>A (p.Ala516Thr) c.1270G>A (p.Ala424Thr) | |
| 1 | g.68429833C>A | CA418276138 | RPE65 | c.1545G>T (p.Arg515=) c.1269G>T (p.Arg423=) | |
| 1 | g.68429833C>G | CA418276140 | RPE65 | c.1545G>C (p.Arg515=) c.1269G>C (p.Arg423=) | |
| 1 | g.68429833C>T | CA418276137 | RPE65 | c.1545G>A (p.Arg515=) c.1269G>A (p.Arg423=) | ClinVar dbSNP |
| 1 | g.68429834C>A | CA340741043 | RPE65 | c.1544G>T (p.Arg515Leu) c.1268G>T (p.Arg423Leu) | |
| 1 | g.68429834C= | CA1146727845 | RPE65 | c.1544G= (p.Arg515=) c.1268G= (p.Arg423=) | |
| 1 | g.68429834C>G | CA340741044 | RPE65 | c.1544G>C (p.Arg515Pro) c.1268G>C (p.Arg423Pro) | |
| 1 | g.68429834C>T | CA902134 | RPE65 | c.1544G>A (p.Arg515Gln) c.1268G>A (p.Arg423Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429835G>A | CA226519 | RPE65 | c.1543C>T (p.Arg515Trp) c.1267C>T (p.Arg423Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429835G>C | CA340741048 | RPE65 | c.1543C>G (p.Arg515Gly) c.1267C>G (p.Arg423Gly) | dbSNP |
| 1 | g.68429835G= | CA1141580840 | RPE65 | c.1543C= (p.Arg515=) c.1267C= (p.Arg423=) | |
| 1 | g.68429835G>T | CA418276146 | RPE65 | c.1543C>A (p.Arg515=) c.1267C>A (p.Arg423=) | dbSNP COSMIC |
| 1 | g.68429837del | CA2646149685 | RPE65 | c.1543del (p.Arg515GlyfsTer?) c.1267del (p.Arg423GlyfsTer?) | gnomAD v4 |
| 1 | g.68429836G>A | CA418276147 | RPE65 | c.1542C>T (p.Ala514=) c.1266C>T (p.Ala422=) | |
| 1 | g.68429836G>C | CA418276149 | RPE65 | c.1542C>G (p.Ala514=) c.1266C>G (p.Ala422=) | |
| 1 | g.68429836G>T | CA418276151 | RPE65 | c.1542C>A (p.Ala514=) c.1266C>A (p.Ala422=) | |
| 1 | g.68429837G>A | CA340741050 | RPE65 | c.1541C>T (p.Ala514Val) c.1265C>T (p.Ala422Val) | gnomAD v4 |
| 1 | g.68429837G>C | CA340741052 | RPE65 | c.1541C>G (p.Ala514Gly) c.1265C>G (p.Ala422Gly) | |
| 1 | g.68429837G>T | CA340741054 | RPE65 | c.1541C>A (p.Ala514Asp) c.1265C>A (p.Ala422Asp) | dbSNP |
| 1 | g.68429838C>A | CA340741057 | RPE65 | c.1540G>T (p.Ala514Ser) c.1264G>T (p.Ala422Ser) | |
| 1 | g.68429838C>G | CA340741059 | RPE65 | c.1540G>C (p.Ala514Pro) c.1264G>C (p.Ala422Pro) | |
| 1 | g.68429838C>T | CA340741061 | RPE65 | c.1540G>A (p.Ala514Thr) c.1264G>A (p.Ala422Thr) | gnomAD v4 |