Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.47834448T>A | CA406628566 | CRX | c.5T>A (p.Met2Lys) n.78-1795T>A | |
19 | g.47834448T>C | CA406628574 | CRX | c.5T>C (p.Met2Thr) n.78-1795T>C | gnomAD v4 |
19 | g.47834448T>G | CA406628570 | CRX | c.5T>G (p.Met2Arg) n.78-1795T>G | |
19 | g.47834449G>A | CA406628576 | CRX | c.6G>A (p.Met2Ile) n.78-1794G>A | |
19 | g.47834449G>C | CA406628578 | CRX | c.6G>C (p.Met2Ile) n.78-1794G>C | |
19 | g.47834449G>T | CA406628585 | CRX | c.6G>T (p.Met2Ile) n.78-1794G>T | |
19 | g.47834450del | CA2576833130 | CRX | c.7del (p.Ala3ArgfsTer3) n.78-1793del | |
19 | g.47834450G>A | CA406628587 | CRX | c.7G>A (p.Ala3Thr) n.78-1793G>A | dbSNP gnomAD v2 |
19 | g.47834450G>C | CA406628588 | CRX | c.7G>C (p.Ala3Pro) n.78-1793G>C | dbSNP gnomAD v4 |
19 | g.47834450G= | CA2339606492 | CRX | c.7G= (p.Ala3=) n.78-1793G= | |
19 | g.47834450G>T | CA406628589 | CRX | c.7G>T (p.Ala3Ser) n.78-1793G>T | dbSNP |
19 | g.47834451C>A | CA406628593 | CRX | c.8C>A (p.Ala3Glu) n.78-1792C>A | gnomAD v4 |
19 | g.47834451C= | CA2339606493 | CRX | c.8C= (p.Ala3=) n.78-1792C= | |
19 | g.47834451C>G | CA406628596 | CRX | c.8C>G (p.Ala3Gly) n.78-1792C>G | |
19 | g.47834451C>T | CA9544358 | CRX | c.8C>T (p.Ala3Val) n.78-1792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834452G>A | CA9544359 | CRX | c.9G>A (p.Ala3=) n.78-1791G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.47834452G>C | CA508002469 | CRX | c.9G>C (p.Ala3=) n.78-1791G>C | |
19 | g.47834452G= | CA2339606494 | CRX | c.9G= (p.Ala3=) n.78-1791G= | |
19 | g.47834452G>T | CA508002467 | CRX | c.9G>T (p.Ala3=) n.78-1791G>T | |
19 | g.47834453T>A | CA406628608 | CRX | c.10T>A (p.Tyr4Asn) n.78-1790T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.47834453T>C | CA9544360 | CRX | c.10T>C (p.Tyr4His) n.78-1790T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.47834453T>G | CA406628602 | CRX | c.10T>G (p.Tyr4Asp) n.78-1790T>G | |
19 | g.47834453T= | CA2339606495 | CRX | c.10T= (p.Tyr4=) n.78-1790T= | |
19 | g.47834454A= | CA2339606496 | CRX | c.11A= (p.Tyr4=) n.78-1789A= | |
19 | g.47834454A>C | CA406628610 | CRX | c.11A>C (p.Tyr4Ser) n.78-1789A>C | |
19 | g.47834454A>G | CA406628612 | CRX | c.11A>G (p.Tyr4Cys) n.78-1789A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834454A>T | CA406628616 | CRX | c.11A>T (p.Tyr4Phe) n.78-1789A>T | |
19 | g.47834455T>A | CA406628620 | CRX | c.12T>A (p.Tyr4Ter) n.78-1788T>A | |
19 | g.47834455T>C | CA508002481 | CRX | c.12T>C (p.Tyr4=) n.78-1788T>C | |
19 | g.47834455T>G | CA406628622 | CRX | c.12T>G (p.Tyr4Ter) n.78-1788T>G | |
19 | g.47834456A= | CA2339606497 | CRX | c.13A= (p.Met5=) n.78-1787A= | |
19 | g.47834456A>C | CA406628631 | CRX | c.13A>C (p.Met5Leu) n.78-1787A>C | |
19 | g.47834456A>G | CA9544361 | CRX | c.13A>G (p.Met5Val) n.78-1787A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834456A>T | CA406628626 | CRX | c.13A>T (p.Met5Leu) n.78-1787A>T | |
19 | g.47834457T>A | CA406628636 | CRX | c.14T>A (p.Met5Lys) n.78-1786T>A | |
19 | g.47834457T>C | CA406628656 | CRX | c.14T>C (p.Met5Thr) n.78-1786T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834457T>G | CA406628657 | CRX | c.14T>G (p.Met5Arg) n.78-1786T>G | |
19 | g.47834457T= | CA2339606498 | CRX | c.14T= (p.Met5=) n.78-1786T= | |
19 | g.47834458G>A | CA406628660 | CRX | c.15G>A (p.Met5Ile) n.78-1785G>A | |
19 | g.47834458G>C | CA406628664 | CRX | c.15G>C (p.Met5Ile) n.78-1785G>C | |
19 | g.47834458G= | CA2339606499 | CRX | c.15G= (p.Met5=) n.78-1785G= | |
19 | g.47834458G>T | CA9544362 | CRX | c.15G>T (p.Met5Ile) n.78-1785G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834459A>C | CA406628669 | CRX | c.16A>C (p.Asn6His) n.78-1784A>C | |
19 | g.47834459A>G | CA406628674 | CRX | c.16A>G (p.Asn6Asp) n.78-1784A>G | |
19 | g.47834459A>T | CA406628671 | CRX | c.16A>T (p.Asn6Tyr) n.78-1784A>T | |
19 | g.47834460A= | CA2339606500 | CRX | c.17A= (p.Asn6=) n.78-1783A= | |
19 | g.47834460A>C | CA406628678 | CRX | c.17A>C (p.Asn6Thr) n.78-1783A>C | |
19 | g.47834460A>G | CA406628694 | CRX | c.17A>G (p.Asn6Ser) n.78-1783A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834460A>T | CA406628698 | CRX | c.17A>T (p.Asn6Ile) n.78-1783A>T | |
19 | g.47834461C>A | CA406628699 | CRX | c.18C>A (p.Asn6Lys) n.78-1782C>A | |
19 | g.47834461C>G | CA406628700 | CRX | c.18C>G (p.Asn6Lys) n.78-1782C>G | |
19 | g.47834461C>T | CA508002514 | CRX | c.18C>T (p.Asn6=) n.78-1782C>T | gnomAD v4 |
19 | g.47834462C>A | CA9544363 | CRX | c.19C>A (p.Pro7Thr) n.78-1781C>A | dbSNP ExAC |
19 | g.47834462C= | CA2339606501 | CRX | c.19C= (p.Pro7=) n.78-1781C= | |
19 | g.47834462C>G | CA406628701 | CRX | c.19C>G (p.Pro7Ala) n.78-1781C>G | |
19 | g.47834462C>T | CA406628704 | CRX | c.19C>T (p.Pro7Ser) n.78-1781C>T | gnomAD v4 |
19 | g.47834463C>A | CA406628705 | CRX | c.20C>A (p.Pro7Gln) n.78-1780C>A | gnomAD v4 |
19 | g.47834463C= | CA2339606502 | CRX | c.20C= (p.Pro7=) n.78-1780C= | |
19 | g.47834463C>G | CA406628707 | CRX | c.20C>G (p.Pro7Arg) n.78-1780C>G | |
19 | g.47834463C>T | CA9544364 | CRX | c.20C>T (p.Pro7Leu) n.78-1780C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834464G>A | CA9544365 | CRX | c.21G>A (p.Pro7=) n.78-1779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.47834464G>C | CA508002528 | CRX | c.21G>C (p.Pro7=) n.78-1779G>C | |
19 | g.47834464G= | CA2339606503 | CRX | c.21G= (p.Pro7=) n.78-1779G= | |
19 | g.47834464G>T | CA508002530 | CRX | c.21G>T (p.Pro7=) n.78-1779G>T | |
19 | g.47834467dup | CA227616 | CRX | c.24dup (p.Pro9AlafsTer?) n.78-1776dup | ClinVar dbSNP |
19 | g.47834465G>A | CA406628715 | CRX | c.22G>A (p.Gly8Arg) n.78-1778G>A | COSMIC |
19 | g.47834465G>C | CA9544366 | CRX | c.22G>C (p.Gly8Arg) n.78-1778G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834465G= | CA2339606504 | CRX | c.22G= (p.Gly8=) n.78-1778G= | |
19 | g.47834465G>T | CA406628718 | CRX | c.22G>T (p.Gly8Trp) n.78-1778G>T | |
19 | g.47834466G>A | CA406628724 | CRX | c.23G>A (p.Gly8Glu) n.78-1777G>A | gnomAD v4 |
19 | g.47834466G>C | CA406628728 | CRX | c.23G>C (p.Gly8Ala) n.78-1777G>C | |
19 | g.47834466G>T | CA406628726 | CRX | c.23G>T (p.Gly8Val) n.78-1777G>T | |
19 | g.47834467G>A | CA508002540 | CRX | c.24G>A (p.Gly8=) n.78-1776G>A | gnomAD v4 |
19 | g.47834467G>C | CA309207256 | CRX | c.24G>C (p.Gly8=) n.78-1776G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834467G= | CA2339606505 | CRX | c.24G= (p.Gly8=) n.78-1776G= | |
19 | g.47834467G>T | CA508002544 | CRX | c.24G>T (p.Gly8=) n.78-1776G>T | gnomAD v4 |
19 | g.47834468C>A | CA406628744 | CRX | c.25C>A (p.Pro9Thr) n.78-1775C>A | |
19 | g.47834468C>G | CA406628749 | CRX | c.25C>G (p.Pro9Ala) n.78-1775C>G | |
19 | g.47834468C>T | CA406628746 | CRX | c.25C>T (p.Pro9Ser) n.78-1775C>T | ClinVar dbSNP gnomAD v4 |
19 | g.47834469C>A | CA9544367 | CRX | c.26C>A (p.Pro9His) n.78-1774C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47834469C= | CA2339606506 | CRX | c.26C= (p.Pro9=) n.78-1774C= | |
19 | g.47834469C>G | CA406628757 | CRX | c.26C>G (p.Pro9Arg) n.78-1774C>G | |
19 | g.47834469C>T | CA406628760 | CRX | c.26C>T (p.Pro9Leu) n.78-1774C>T | |
19 | g.47834470C>A | CA508002556 | CRX | c.27C>A (p.Pro9=) n.78-1773C>A | |
19 | g.47834470C>G | CA508002558 | CRX | c.27C>G (p.Pro9=) n.78-1773C>G | |
19 | g.47834470C>T | CA508002561 | CRX | c.27C>T (p.Pro9=) n.78-1773C>T | gnomAD v4 |
19 | g.47834471C>A | CA406628764 | CRX | c.28C>A (p.His10Asn) n.78-1772C>A | |
19 | g.47834471C= | CA2339606507 | CRX | c.28C= (p.His10=) n.78-1772C= | |
19 | g.47834471C>G | CA9544368 | CRX | c.28C>G (p.His10Asp) n.78-1772C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834471C>T | CA406628765 | CRX | c.28C>T (p.His10Tyr) n.78-1772C>T | |
19 | g.47834472A= | CA2339606508 | CRX | c.29A= (p.His10=) n.78-1771A= | |
19 | g.47834472A>C | CA406628769 | CRX | c.29A>C (p.His10Pro) n.78-1771A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834472A>G | CA9544369 | CRX | c.29A>G (p.His10Arg) n.78-1771A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47834472A>T | CA406628766 | CRX | c.29A>T (p.His10Leu) n.78-1771A>T | COSMIC |
19 | g.47834473C>A | CA406628771 | CRX | c.30C>A (p.His10Gln) n.78-1770C>A | gnomAD v4 |
19 | g.47834473C= | CA2339606509 | CRX | c.30C= (p.His10=) n.78-1770C= | |
19 | g.47834473C>G | CA406628773 | CRX | c.30C>G (p.His10Gln) n.78-1770C>G | |
19 | g.47834473C>T | CA508002574 | CRX | c.30C>T (p.His10=) n.78-1770C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834474T>A | CA406628777 | CRX | c.31T>A (p.Tyr11Asn) n.78-1769T>A | |
19 | g.47834474T>C | CA406628779 | CRX | c.31T>C (p.Tyr11His) n.78-1769T>C | |
19 | g.47834474T>G | CA406628781 | CRX | c.31T>G (p.Tyr11Asp) n.78-1769T>G | |
19 | g.47834475A>C | CA406628784 | CRX | c.32A>C (p.Tyr11Ser) n.78-1768A>C | |
19 | g.47834475A>G | CA406628788 | CRX | c.32A>G (p.Tyr11Cys) n.78-1768A>G | gnomAD v4 COSMIC |
19 | g.47834475A>T | CA406628786 | CRX | c.32A>T (p.Tyr11Phe) n.78-1768A>T | |
19 | g.47834476T>A | CA406628790 | CRX | c.33T>A (p.Tyr11Ter) n.78-1767T>A | |
19 | g.47834476T>C | CA508002588 | CRX | c.33T>C (p.Tyr11=) n.78-1767T>C | |
19 | g.47834476T>G | CA406628791 | CRX | c.33T>G (p.Tyr11Ter) n.78-1767T>G | |
19 | g.47834477T>A | CA406628793 | CRX | c.34T>A (p.Ser12Thr) n.78-1766T>A | |
19 | g.47834477T>C | CA406628795 | CRX | c.34T>C (p.Ser12Pro) n.78-1766T>C | dbSNP |
19 | g.47834477T>G | CA406628796 | CRX | c.34T>G (p.Ser12Ala) n.78-1766T>G | |
19 | g.47834477T= | CA2339606510 | CRX | c.34T= (p.Ser12=) n.78-1766T= | |
19 | g.47834478C>A | CA406628797 | CRX | c.35C>A (p.Ser12Tyr) n.78-1765C>A | |
19 | g.47834478C= | CA2339606511 | CRX | c.35C= (p.Ser12=) n.78-1765C= | |
19 | g.47834478C>G | CA406628799 | CRX | c.35C>G (p.Ser12Cys) n.78-1765C>G | |
19 | g.47834478C>T | CA9544370 | CRX | c.35C>T (p.Ser12Phe) n.78-1765C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47834479T>A | CA508002605 | CRX | c.36T>A (p.Ser12=) n.78-1764T>A | |
19 | g.47834479T>C | CA508002607 | CRX | c.36T>C (p.Ser12=) n.78-1764T>C | |
19 | g.47834479T>G | CA508002608 | CRX | c.36T>G (p.Ser12=) n.78-1764T>G | |
19 | g.47834480G>A | CA406628802 | CRX | c.37G>A (p.Val13Ile) n.78-1763G>A | COSMIC |
19 | g.47834480G>C | CA9544371 | CRX | c.37G>C (p.Val13Leu) n.78-1763G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834480G= | CA2339606512 | CRX | c.37G= (p.Val13=) n.78-1763G= | |
19 | g.47834480G>T | CA406628804 | CRX | c.37G>T (p.Val13Phe) n.78-1763G>T | |
19 | g.47834481T>A | CA406628806 | CRX | c.38T>A (p.Val13Asp) n.78-1762T>A | |
19 | g.47834481T>C | CA9544372 | CRX | c.38T>C (p.Val13Ala) n.78-1762T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834481T>G | CA406628807 | CRX | c.38T>G (p.Val13Gly) n.78-1762T>G | |
19 | g.47834481T= | CA2339606513 | CRX | c.38T= (p.Val13=) n.78-1762T= | |
19 | g.47834482C>A | CA508002620 | CRX | c.39C>A (p.Val13=) n.78-1761C>A | |
19 | g.47834482C>G | CA508002622 | CRX | c.39C>G (p.Val13=) n.78-1761C>G | |
19 | g.47834482C>T | CA508002624 | CRX | c.39C>T (p.Val13=) n.78-1761C>T | |
19 | g.47834483A>C | CA406628809 | CRX | c.40A>C (p.Asn14His) n.78-1760A>C | |
19 | g.47834483A>G | CA406628811 | CRX | c.40A>G (p.Asn14Asp) n.78-1760A>G | |
19 | g.47834483A>T | CA406628813 | CRX | c.40A>T (p.Asn14Tyr) n.78-1760A>T | |
19 | g.47834484A= | CA2339606514 | CRX | c.41A= (p.Asn14=) n.78-1759A= | |
19 | g.47834484A>C | CA406628814 | CRX | c.41A>C (p.Asn14Thr) n.78-1759A>C | |
19 | g.47834484A>G | CA9544373 | CRX | c.41A>G (p.Asn14Ser) n.78-1759A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834484A>T | CA406628816 | CRX | c.41A>T (p.Asn14Ile) n.78-1759A>T | |
19 | g.47834485C>A | CA9544375 | CRX | c.42C>A (p.Asn14Lys) n.78-1758C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47834485C= | CA2339606515 | CRX | c.42C= (p.Asn14=) n.78-1758C= | |
19 | g.47834485C>G | CA406628819 | CRX | c.42C>G (p.Asn14Lys) n.78-1758C>G | |
19 | g.47834485C>T | CA9544374 | CRX | c.42C>T (p.Asn14=) n.78-1758C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834486G>A | CA9544376 | CRX | c.43G>A (p.Ala15Thr) n.78-1757G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.47834486G>C | CA406628824 | CRX | c.43G>C (p.Ala15Pro) n.78-1757G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834486G= | CA2339606516 | CRX | c.43G= (p.Ala15=) n.78-1757G= | |
19 | g.47834486G>T | CA406628826 | CRX | c.43G>T (p.Ala15Ser) n.78-1757G>T | |
19 | g.47834487C>A | CA406628831 | CRX | c.44C>A (p.Ala15Asp) n.78-1756C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834487C= | CA2339606517 | CRX | c.44C= (p.Ala15=) n.78-1756C= | |
19 | g.47834487C>G | CA406628837 | CRX | c.44C>G (p.Ala15Gly) n.78-1756C>G | |
19 | g.47834487C>T | CA406628834 | CRX | c.44C>T (p.Ala15Val) n.78-1756C>T | dbSNP gnomAD v4 |
19 | g.47834488C>A | CA508002656 | CRX | c.45C>A (p.Ala15=) n.78-1755C>A | |
19 | g.47834488C= | CA2339606518 | CRX | c.45C= (p.Ala15=) n.78-1755C= | |
19 | g.47834488C>G | CA309207333 | CRX | c.45C>G (p.Ala15=) n.78-1755C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.47834488C>T | CA508002660 | CRX | c.45C>T (p.Ala15=) n.78-1755C>T | dbSNP |
19 | g.47834489T>A | CA406628839 | CRX | c.46T>A (p.Leu16Met) n.78-1754T>A | |
19 | g.47834489T>C | CA508002664 | CRX | c.46T>C (p.Leu16=) n.78-1754T>C | |
19 | g.47834489T>G | CA406628841 | CRX | c.46T>G (p.Leu16Val) n.78-1754T>G | |
19 | g.47834490T>A | CA406628844 | CRX | c.47T>A (p.Leu16Ter) n.78-1753T>A | gnomAD v4 |
19 | g.47834490T>C | CA406628845 | CRX | c.47T>C (p.Leu16Ser) n.78-1753T>C | |
19 | g.47834490T>G | CA406628849 | CRX | c.47T>G (p.Leu16Trp) n.78-1753T>G | |
19 | g.47834491G>A | CA309207336 | CRX | c.48G>A (p.Leu16=) n.78-1752G>A | dbSNP gnomAD v4 |
19 | g.47834491G>C | CA406628853 | CRX | c.48G>C (p.Leu16Phe) n.78-1752G>C | |
19 | g.47834491G= | CA2339606519 | CRX | c.48G= (p.Leu16=) n.78-1752G= | |
19 | g.47834491G>T | CA406628856 | CRX | c.48G>T (p.Leu16Phe) n.78-1752G>T | |
19 | g.47834492G>A | CA406628859 | CRX | c.49G>A (p.Ala17Thr) n.78-1751G>A | |
19 | g.47834492G>C | CA406628862 | CRX | c.49G>C (p.Ala17Pro) n.78-1751G>C | |
19 | g.47834492G>T | CA406628864 | CRX | c.49G>T (p.Ala17Ser) n.78-1751G>T | |
19 | g.47834493C>A | CA406628870 | CRX | c.50C>A (p.Ala17Asp) n.78-1750C>A | |
19 | g.47834493C>G | CA406628871 | CRX | c.50C>G (p.Ala17Gly) n.78-1750C>G | |
19 | g.47834493C>T | CA406628867 | CRX | c.50C>T (p.Ala17Val) n.78-1750C>T | gnomAD v4 |
19 | g.47834494C>A | CA508002689 | CRX | c.51C>A (p.Ala17=) n.78-1749C>A | |
19 | g.47834494C>G | CA508002691 | CRX | c.51C>G (p.Ala17=) n.78-1749C>G | |
19 | g.47834494C>T | CA508002694 | CRX | c.51C>T (p.Ala17=) n.78-1749C>T | |
19 | g.47834495C>A | CA406628874 | CRX | c.52C>A (p.Leu18Ile) n.78-1748C>A | |
19 | g.47834495C= | CA2339606520 | CRX | c.52C= (p.Leu18=) n.78-1748C= | |
19 | g.47834495C>G | CA406628876 | CRX | c.52C>G (p.Leu18Val) n.78-1748C>G | gnomAD v4 |
19 | g.47834495C>T | CA9544377 | CRX | c.52C>T (p.Leu18=) n.78-1748C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834496T>A | CA406628880 | CRX | c.53T>A (p.Leu18Gln) n.78-1747T>A | |
19 | g.47834496T>C | CA406628881 | CRX | c.53T>C (p.Leu18Pro) n.78-1747T>C | |
19 | g.47834496T>G | CA406628884 | CRX | c.53T>G (p.Leu18Arg) n.78-1747T>G | |
19 | g.47834497A>C | CA508002705 | CRX | c.54A>C (p.Leu18=) n.78-1746A>C | |
19 | g.47834497A>G | CA508002710 | CRX | c.54A>G (p.Leu18=) n.78-1746A>G | |
19 | g.47834497A>T | CA508002708 | CRX | c.54A>T (p.Leu18=) n.78-1746A>T | |
19 | g.47834498A>C | CA406628891 | CRX | c.55A>C (p.Ser19Arg) n.78-1745A>C | |
19 | g.47834498A>G | CA406628886 | CRX | c.55A>G (p.Ser19Gly) n.78-1745A>G | |
19 | g.47834498A>T | CA406628889 | CRX | c.55A>T (p.Ser19Cys) n.78-1745A>T | gnomAD v4 |
19 | g.47834499G>A | CA406628894 | CRX | c.56G>A (p.Ser19Asn) n.78-1744G>A | |
19 | g.47834499G>C | CA406628896 | CRX | c.56G>C (p.Ser19Thr) n.78-1744G>C | |
19 | g.47834499G>T | CA406628899 | CRX | c.56G>T (p.Ser19Ile) n.78-1744G>T | dbSNP |
19 | g.47834500T>A | CA406628905 | CRX | c.57T>A (p.Ser19Arg) n.78-1743T>A | |
19 | g.47834500T>C | CA508002724 | CRX | c.57T>C (p.Ser19=) n.78-1743T>C | |
19 | g.47834500T>G | CA406628907 | CRX | c.57T>G (p.Ser19Arg) n.78-1743T>G | |
19 | g.47834501G>A | CA406628915 | CRX | c.58G>A (p.Gly20Ser) n.78-1742G>A | |
19 | g.47834501G>C | CA406628912 | CRX | c.58G>C (p.Gly20Arg) n.78-1742G>C | |
19 | g.47834501G>T | CA406628914 | CRX | c.58G>T (p.Gly20Cys) n.78-1742G>T | |
19 | g.47834502G>A | CA406628919 | CRX | c.59G>A (p.Gly20Asp) n.78-1741G>A | |
19 | g.47834502G>C | CA406628921 | CRX | c.59G>C (p.Gly20Ala) n.78-1741G>C | |
19 | g.47834502G>T | CA406628923 | CRX | c.59G>T (p.Gly20Val) n.78-1741G>T | gnomAD v4 |
19 | g.47834502_47834503delinsGC | CA2339606521 | CRX | c.59_60delinsGC (p.Gly20=) n.78-1741_78-1740delinsGC | |
19 | g.47834503C>A | CA508002738 | CRX | c.60C>A (p.Gly20=) n.78-1740C>A | dbSNP gnomAD v4 |
19 | g.47834503C= | CA2339606522 | CRX | c.60C= (p.Gly20=) n.78-1740C= | |
19 | g.47834503C>G | CA309207353 | CRX | c.60C>G (p.Gly20=) n.78-1740C>G | ClinVar dbSNP |
19 | g.47834503C>T | CA9544379 | CRX | c.60C>T (p.Gly20=) n.78-1740C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834506del | CA9544378 | CRX | c.63del (p.Ser22ValfsTer4) n.78-1737del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47834504C>A | CA406628938 | CRX | c.61C>A (p.Pro21Thr) n.78-1739C>A | |
19 | g.47834504C>G | CA406628939 | CRX | c.61C>G (p.Pro21Ala) n.78-1739C>G | |
19 | g.47834504C>T | CA406628942 | CRX | c.61C>T (p.Pro21Ser) n.78-1739C>T | |
19 | g.47834505C>A | CA406628944 | CRX | c.62C>A (p.Pro21His) n.78-1738C>A | |
19 | g.47834505C>G | CA406628945 | CRX | c.62C>G (p.Pro21Arg) n.78-1738C>G | |
19 | g.47834505C>T | CA406628948 | CRX | c.62C>T (p.Pro21Leu) n.78-1738C>T | COSMIC |
19 | g.47834506C>A | CA508002758 | CRX | c.63C>A (p.Pro21=) n.78-1737C>A | |
19 | g.47834506C= | CA2339606523 | CRX | c.63C= (p.Pro21=) n.78-1737C= | |
19 | g.47834506C>G | CA508002756 | CRX | c.63C>G (p.Pro21=) n.78-1737C>G | gnomAD v4 |
19 | g.47834506C>T | CA309207375 | CRX | c.63C>T (p.Pro21=) n.78-1737C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.47834507A>C | CA406628951 | CRX | c.64A>C (p.Ser22Arg) n.78-1736A>C | |
19 | g.47834507A>G | CA406628957 | CRX | c.64A>G (p.Ser22Gly) n.78-1736A>G | |
19 | g.47834507A>T | CA406628954 | CRX | c.64A>T (p.Ser22Cys) n.78-1736A>T | |
19 | g.47834508G>A | CA406628960 | CRX | c.65G>A (p.Ser22Asn) n.78-1735G>A | |
19 | g.47834508G>C | CA406628962 | CRX | c.65G>C (p.Ser22Thr) n.78-1735G>C | |
19 | g.47834508G>T | CA406628964 | CRX | c.65G>T (p.Ser22Ile) n.78-1735G>T | |
19 | g.47834509T>A | CA406628968 | CRX | c.66T>A (p.Ser22Arg) n.78-1734T>A | |
19 | g.47834509T>C | CA508002769 | CRX | c.66T>C (p.Ser22=) n.78-1734T>C | |
19 | g.47834509T>G | CA406628971 | CRX | c.66T>G (p.Ser22Arg) n.78-1734T>G | |
19 | g.47834510G>A | CA406628984 | CRX | c.67G>A (p.Val23Met) n.78-1733G>A | |
19 | g.47834510G>C | CA406628980 | CRX | c.67G>C (p.Val23Leu) n.78-1733G>C | |
19 | g.47834510G>T | CA406628979 | CRX | c.67G>T (p.Val23Leu) n.78-1733G>T | |
19 | g.47834511T>A | CA406628987 | CRX | c.68T>A (p.Val23Glu) n.78-1732T>A | |
19 | g.47834511T>C | CA406628988 | CRX | c.68T>C (p.Val23Ala) n.78-1732T>C | |
19 | g.47834511T>G | CA406628990 | CRX | c.68T>G (p.Val23Gly) n.78-1732T>G | |
19 | g.47834512G>A | CA508002783 | CRX | c.69G>A (p.Val23=) n.78-1731G>A | |
19 | g.47834512G>C | CA508002785 | CRX | c.69G>C (p.Val23=) n.78-1731G>C | |
19 | g.47834512G>T | CA508002786 | CRX | c.69G>T (p.Val23=) n.78-1731G>T | COSMIC |
19 | g.47834513G>A | CA406628993 | CRX | c.70G>A (p.Asp24Asn) n.78-1730G>A | COSMIC |
19 | g.47834513G>C | CA406628996 | CRX | c.70G>C (p.Asp24His) n.78-1730G>C | |
19 | g.47834513G>T | CA406628998 | CRX | c.70G>T (p.Asp24Tyr) n.78-1730G>T | |
19 | g.47834514A>C | CA406629001 | CRX | c.71A>C (p.Asp24Ala) n.78-1729A>C | |
19 | g.47834514A>G | CA406629006 | CRX | c.71A>G (p.Asp24Gly) n.78-1729A>G | |
19 | g.47834514A>T | CA406629003 | CRX | c.71A>T (p.Asp24Val) n.78-1729A>T | |
19 | g.47834515T>A | CA406629009 | CRX | c.72T>A (p.Asp24Glu) n.78-1728T>A | |
19 | g.47834515T>C | CA508002801 | CRX | c.72T>C (p.Asp24=) n.78-1728T>C | |
19 | g.47834515T>G | CA406629012 | CRX | c.72T>G (p.Asp24Glu) n.78-1728T>G | |
19 | g.47834516C>A | CA406629014 | CRX | c.73C>A (p.Leu25Met) n.78-1727C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834516C= | CA2339606524 | CRX | c.73C= (p.Leu25=) n.78-1727C= | |
19 | g.47834516C>G | CA406629017 | CRX | c.73C>G (p.Leu25Val) n.78-1727C>G | |
19 | g.47834516C>T | CA508002804 | CRX | c.73C>T (p.Leu25=) n.78-1727C>T | |
19 | g.47834517T>A | CA406629020 | CRX | c.74T>A (p.Leu25Gln) n.78-1726T>A | |
19 | g.47834517T>C | CA406629023 | CRX | c.74T>C (p.Leu25Pro) n.78-1726T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834517T>G | CA406629025 | CRX | c.74T>G (p.Leu25Arg) n.78-1726T>G | |
19 | g.47834517T= | CA2339606525 | CRX | c.74T= (p.Leu25=) n.78-1726T= | |
19 | g.47834518G>A | CA508002816 | CRX | c.75G>A (p.Leu25=) n.78-1725G>A | |
19 | g.47834518G>C | CA508002818 | CRX | c.75G>C (p.Leu25=) n.78-1725G>C | |
19 | g.47834518G>T | CA508002820 | CRX | c.75G>T (p.Leu25=) n.78-1725G>T | |
19 | g.47834519A>C | CA406629027 | CRX | c.76A>C (p.Met26Leu) n.78-1724A>C | |
19 | g.47834519A>G | CA406629029 | CRX | c.76A>G (p.Met26Val) n.78-1724A>G | gnomAD v3 gnomAD v4 |
19 | g.47834519A>T | CA406629033 | CRX | c.76A>T (p.Met26Leu) n.78-1724A>T | |
19 | g.47834519_47834523del | CA2499225528 | CRX | c.76_80del (p.Met26ProfsTer?) n.78-1724_78-1720del | ClinVar dbSNP |
19 | g.47834520T>A | CA406629042 | CRX | c.77T>A (p.Met26Lys) n.78-1723T>A | |
19 | g.47834520T>C | CA406629039 | CRX | c.77T>C (p.Met26Thr) n.78-1723T>C | |
19 | g.47834520T>G | CA406629036 | CRX | c.77T>G (p.Met26Arg) n.78-1723T>G | |
19 | g.47834521G>A | CA10652151 | CRX | c.78G>A (p.Met26Ile) n.78-1722G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834521G>C | CA406629048 | CRX | c.78G>C (p.Met26Ile) n.78-1722G>C | |
19 | g.47834521G= | CA2339606526 | CRX | c.78G= (p.Met26=) n.78-1722G= | |
19 | g.47834521G>T | CA406629045 | CRX | c.78G>T (p.Met26Ile) n.78-1722G>T | |
19 | g.47834522C>A | CA406629049 | CRX | c.79C>A (p.His27Asn) n.78-1721C>A | |
19 | g.47834522C>G | CA406629053 | CRX | c.79C>G (p.His27Asp) n.78-1721C>G | |
19 | g.47834522C>T | CA406629051 | CRX | c.79C>T (p.His27Tyr) n.78-1721C>T | |
19 | g.47834522_47834530del | CA996548951 | CRX | c.79_87del (p.His27_Ala29del) n.78-1721_78-1713del | gnomAD v3 gnomAD v4 |
19 | g.47834523A>C | CA406629057 | CRX | c.80A>C (p.His27Pro) n.78-1720A>C | |
19 | g.47834523A>G | CA406629060 | CRX | c.80A>G (p.His27Arg) n.78-1720A>G | |
19 | g.47834523A>T | CA406629062 | CRX | c.80A>T (p.His27Leu) n.78-1720A>T | |
19 | g.47834524C>A | CA406629065 | CRX | c.81C>A (p.His27Gln) n.78-1719C>A | |
19 | g.47834524C>G | CA406629067 | CRX | c.81C>G (p.His27Gln) n.78-1719C>G | |
19 | g.47834524C>T | CA508002858 | CRX | c.81C>T (p.His27=) n.78-1719C>T | ClinVar dbSNP |
19 | g.47834525C>A | CA406629071 | CRX | c.82C>A (p.Gln28Lys) n.78-1718C>A | |
19 | g.47834525C>G | CA406629073 | CRX | c.82C>G (p.Gln28Glu) n.78-1718C>G | |
19 | g.47834525C>T | CA406629076 | CRX | c.82C>T (p.Gln28Ter) n.78-1718C>T | |
19 | g.47834526del | CA2814624981 | CRX | c.83del (p.Gln28ArgfsTer?) n.78-1717del | |
19 | g.47834526A= | CA2339606527 | CRX | c.83A= (p.Gln28=) n.78-1717A= | |
19 | g.47834526A>C | CA406629079 | CRX | c.83A>C (p.Gln28Pro) n.78-1717A>C | |
19 | g.47834526A>G | CA9544380 | CRX | c.83A>G (p.Gln28Arg) n.78-1717A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834526A>T | CA406629083 | CRX | c.83A>T (p.Gln28Leu) n.78-1717A>T | |
19 | g.47834527G>A | CA508002871 | CRX | c.84G>A (p.Gln28=) n.78-1716G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.47834527G>C | CA406629085 | CRX | c.84G>C (p.Gln28His) n.78-1716G>C | |
19 | g.47834527G= | CA2339606528 | CRX | c.84G= (p.Gln28=) n.78-1716G= | |
19 | g.47834527G>T | CA406629087 | CRX | c.84G>T (p.Gln28His) n.78-1716G>T | |
19 | g.47834528G>A | CA406629091 | CRX | c.85G>A (p.Ala29Thr) n.78-1715G>A | ClinVar gnomAD v4 |
19 | g.47834528G>C | CA406629095 | CRX | c.85G>C (p.Ala29Pro) n.78-1715G>C | |
19 | g.47834528G>T | CA406629094 | CRX | c.85G>T (p.Ala29Ser) n.78-1715G>T | |
19 | g.47834529C>A | CA406629098 | CRX | c.86C>A (p.Ala29Asp) n.78-1714C>A | |
19 | g.47834529C= | CA2339606529 | CRX | c.86C= (p.Ala29=) n.78-1714C= | |
19 | g.47834529C>G | CA406629101 | CRX | c.86C>G (p.Ala29Gly) n.78-1714C>G | |
19 | g.47834529C>T | CA406629104 | CRX | c.86C>T (p.Ala29Val) n.78-1714C>T | dbSNP |
19 | g.47834530T>A | CA508002886 | CRX | c.87T>A (p.Ala29=) n.78-1713T>A | |
19 | g.47834530T>C | CA508002888 | CRX | c.87T>C (p.Ala29=) n.78-1713T>C | |
19 | g.47834530T>G | CA508002890 | CRX | c.87T>G (p.Ala29=) n.78-1713T>G | |
19 | g.47834531G>A | CA406629105 | CRX | c.88G>A (p.Val30Met) n.78-1712G>A | |
19 | g.47834531G>C | CA406629106 | CRX | c.88G>C (p.Val30Leu) n.78-1712G>C | gnomAD v4 |
19 | g.47834531G>T | CA406629108 | CRX | c.88G>T (p.Val30Leu) n.78-1712G>T | gnomAD v3 gnomAD v4 |
19 | g.47834532T>A | CA406629111 | CRX | c.89T>A (p.Val30Glu) n.78-1711T>A | ClinVar |
19 | g.47834532T>C | CA406629114 | CRX | c.89T>C (p.Val30Ala) n.78-1711T>C | gnomAD v4 |
19 | g.47834532T>G | CA406629115 | CRX | c.89T>G (p.Val30Gly) n.78-1711T>G | |
19 | g.47834532_47834533insC | CA996548958 | CRX | c.89_90insC (p.Pro31AlafsTer?) n.78-1711_78-1710insC | gnomAD v3 gnomAD v4 |
19 | g.47834533G>A | CA508002900 | CRX | c.90G>A (p.Val30=) n.78-1710G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.47834533G>C | CA508002902 | CRX | c.90G>C (p.Val30=) n.78-1710G>C | |
19 | g.47834533G= | CA2339606530 | CRX | c.90G= (p.Val30=) n.78-1710G= | |
19 | g.47834533G>T | CA508002906 | CRX | c.90G>T (p.Val30=) n.78-1710G>T | |
19 | g.47834534C>A | CA406629121 | CRX | c.91C>A (p.Pro31Thr) n.78-1709C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.47834534C= | CA2339606531 | CRX | c.91C= (p.Pro31=) n.78-1709C= | |
19 | g.47834534C>G | CA406629120 | CRX | c.91C>G (p.Pro31Ala) n.78-1709C>G | |
19 | g.47834534C>T | CA406629118 | CRX | c.91C>T (p.Pro31Ser) n.78-1709C>T | dbSNP |
19 | g.47834535C>A | CA406629124 | CRX | c.92C>A (p.Pro31His) n.78-1708C>A | |
19 | g.47834535C>G | CA406629127 | CRX | c.92C>G (p.Pro31Arg) n.78-1708C>G | |
19 | g.47834535C>T | CA406629128 | CRX | c.92C>T (p.Pro31Leu) n.78-1708C>T | |
19 | g.47834536C>A | CA508002915 | CRX | c.93C>A (p.Pro31=) n.78-1707C>A | gnomAD v4 |
19 | g.47834536C>G | CA508002917 | CRX | c.93C>G (p.Pro31=) n.78-1707C>G | gnomAD v3 gnomAD v4 |
19 | g.47834536C>T | CA508002919 | CRX | c.93C>T (p.Pro31=) n.78-1707C>T | |
19 | g.47834537T>A | CA406629131 | CRX | c.94T>A (p.Tyr32Asn) n.78-1706T>A | |
19 | g.47834537T>C | CA406629134 | CRX | c.94T>C (p.Tyr32His) n.78-1706T>C | gnomAD v4 |
19 | g.47834537T>G | CA406629136 | CRX | c.94T>G (p.Tyr32Asp) n.78-1706T>G | |
19 | g.47834538A>C | CA406629139 | CRX | c.95A>C (p.Tyr32Ser) n.78-1705A>C | |
19 | g.47834538A>G | CA406629141 | CRX | c.95A>G (p.Tyr32Cys) n.78-1705A>G | |
19 | g.47834538A>T | CA406629143 | CRX | c.95A>T (p.Tyr32Phe) n.78-1705A>T | |
19 | g.47834539C>A | CA406629146 | CRX | c.96C>A (p.Tyr32Ter) n.78-1704C>A | gnomAD v4 |
19 | g.47834539C= | CA2339606532 | CRX | c.96C= (p.Tyr32=) n.78-1704C= | |
19 | g.47834539C>G | CA406629149 | CRX | c.96C>G (p.Tyr32Ter) n.78-1704C>G | |
19 | g.47834539C>T | CA9544381 | CRX | c.96C>T (p.Tyr32=) n.78-1704C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834540C>A | CA406629157 | CRX | c.97C>A (p.Pro33Thr) n.78-1703C>A | |
19 | g.47834540C>G | CA406629155 | CRX | c.97C>G (p.Pro33Ala) n.78-1703C>G | |
19 | g.47834540C>T | CA406629153 | CRX | c.97C>T (p.Pro33Ser) n.78-1703C>T | |
19 | g.47834540_47834541insATTAAAA | CA996548968 | CRX | c.97_98insATTAAAA (p.Pro33HisfsTer2) n.78-1703_78-1702insATTAAAA | gnomAD v3 gnomAD v4 |
19 | g.47834541C>A | CA406629160 | CRX | c.98C>A (p.Pro33Gln) n.78-1702C>A | gnomAD v3 gnomAD v4 |
19 | g.47834541C>G | CA406629162 | CRX | c.98C>G (p.Pro33Arg) n.78-1702C>G | |
19 | g.47834541C>T | CA406629166 | CRX | c.98C>T (p.Pro33Leu) n.78-1702C>T | |
19 | g.47834542A= | CA2339606533 | CRX | c.99A= (p.Pro33=) n.78-1701A= | |
19 | g.47834542A>C | CA508002940 | CRX | c.99A>C (p.Pro33=) n.78-1701A>C | |
19 | g.47834542A>G | CA508002942 | CRX | c.99A>G (p.Pro33=) n.78-1701A>G | dbSNP gnomAD v4 |
19 | g.47834542A>T | CA9544382 | CRX | c.99A>T (p.Pro33=) n.78-1701A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.47834543A>C | CA406629170 | CRX | c.100A>C (p.Ser34Arg) n.78-1700A>C | |
19 | g.47834543A>G | CA406629173 | CRX | c.100A>G (p.Ser34Gly) n.78-1700A>G | |
19 | g.47834543A>T | CA406629175 | CRX | c.100A>T (p.Ser34Cys) n.78-1700A>T | |
19 | g.47834546_47834549del | CA2814624992 | CRX | c.100+3_100+6del n.78-1697_78-1694del | |
19 | g.47834544G>A | CA406629177 | CRX | c.100+1G>A (n.100+1G>A) n.78-1699G>A | gnomAD v4 |
19 | g.47834544G>C | CA10581705 | CRX | c.100+1G>C (n.100+1G>C) n.78-1699G>C | ClinVar dbSNP |
19 | g.47834544G= | CA2339606534 | CRX | c.100+1G= (n.100+1G=) n.78-1699G= | |
19 | g.47834544G>T | CA406629180 | CRX | c.100+1G>T (n.100+1G>T) n.78-1699G>T | |
19 | g.47834545T>A | CA406629182 | CRX | c.100+2T>A (n.100+2T>A) n.78-1698T>A | |
19 | g.47834545T>C | CA227609 | CRX | c.100+2T>C (n.100+2T>C) n.78-1698T>C | ClinVar dbSNP |
19 | g.47834545T>G | CA406629183 | CRX | c.100+2T>G (n.100+2T>G) n.78-1698T>G | ClinVar |
19 | g.47834545T= | CA2339606535 | CRX | c.100+2T= (n.100+2T=) n.78-1698T= | |
19 | g.47834546G>C | CA1139666500 | CRX | c.100+3G>C (n.100+3G>C) n.78-1697G>C | ClinVar dbSNP gnomAD v4 |
19 | g.47834546G= | CA2339606537 | CRX | c.100+3G= (n.100+3G=) n.78-1697G= | |
19 | g.47834546G>T | CA914334603 | CRX | c.100+3G>T (n.100+3G>T) n.78-1697G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834546_47834548delinsGAG | CA2339606536 | CRX | c.100+3_100+5delinsGAG (n.100+3_100+5delinsGAG) n.78-1697_78-1695delinsGAG | |
19 | g.47834546_47834548delinsTTA | CA16620868 | CRX | c.100+3_100+5delinsTTA (n.100+3_100+5delinsTTA) n.78-1697_78-1695delinsTTA | ClinVar dbSNP |
19 | g.47834547A= | CA2339606538 | CRX | c.100+4A= (n.100+4A=) n.78-1696A= | |
19 | g.47834547A>T | CA914334604 | CRX | c.100+4A>T (n.100+4A>T) n.78-1696A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834548G>A | CA914334605 | CRX | c.100+5G>A (n.100+5G>A) n.78-1695G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.47834548G>C | CA2586123723 | CRX | c.100+5G>C (n.100+5G>C) n.78-1695G>C | gnomAD v4 |
19 | g.47834548G= | CA2339606539 | CRX | c.100+5G= (n.100+5G=) n.78-1695G= |