Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.660427T>C | CA2794541 | PDE6B | c.1468-40T>C (n.1468-40T>C) c.631-40T>C (n.631-40T>C) c.1687-40T>C (n.1687-40T>C) c.673-40T>C (n.673-40T>C) c.397-40T>C (n.397-40T>C) c.313-40T>C (n.313-40T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660427T= | CA1432855011 | PDE6B | c.1468-40T= (n.1468-40T=) c.631-40T= (n.631-40T=) c.1687-40T= (n.1687-40T=) c.673-40T= (n.673-40T=) c.397-40T= (n.397-40T=) c.313-40T= (n.313-40T=) | |
4 | g.660428G>T | CA2669419659 | PDE6B | c.1468-39G>T (n.1468-39G>T) c.631-39G>T (n.631-39G>T) c.1687-39G>T (n.1687-39G>T) c.673-39G>T (n.673-39G>T) c.397-39G>T (n.397-39G>T) c.313-39G>T (n.313-39G>T) | gnomAD v4 |
4 | g.660429G>A | CA2669419661 | PDE6B | c.1468-38G>A (n.1468-38G>A) c.631-38G>A (n.631-38G>A) c.1687-38G>A (n.1687-38G>A) c.673-38G>A (n.673-38G>A) c.397-38G>A (n.397-38G>A) c.313-38G>A (n.313-38G>A) | gnomAD v4 |
4 | g.660430C>A | CA2669419663 | PDE6B | c.1468-37C>A (n.1468-37C>A) c.631-37C>A (n.631-37C>A) c.1687-37C>A (n.1687-37C>A) c.673-37C>A (n.673-37C>A) c.397-37C>A (n.397-37C>A) c.313-37C>A (n.313-37C>A) | gnomAD v4 |
4 | g.660430C= | CA1432855013 | PDE6B | c.1468-37C= (n.1468-37C=) c.631-37C= (n.631-37C=) c.1687-37C= (n.1687-37C=) c.673-37C= (n.673-37C=) c.397-37C= (n.397-37C=) c.313-37C= (n.313-37C=) | |
4 | g.660431dup | CA2794542 | PDE6B | c.1468-36dup (n.1468-36dup) c.631-36dup (n.631-36dup) c.1687-36dup (n.1687-36dup) c.673-36dup (n.673-36dup) c.397-36dup (n.397-36dup) c.313-36dup (n.313-36dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660432G>A | CA2794543 | PDE6B | c.1468-35G>A (n.1468-35G>A) c.631-35G>A (n.631-35G>A) c.1687-35G>A (n.1687-35G>A) c.673-35G>A (n.673-35G>A) c.397-35G>A (n.397-35G>A) c.313-35G>A (n.313-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660432G= | CA1432855014 | PDE6B | c.1468-35G= (n.1468-35G=) c.631-35G= (n.631-35G=) c.1687-35G= (n.1687-35G=) c.673-35G= (n.673-35G=) c.397-35G= (n.397-35G=) c.313-35G= (n.313-35G=) | |
4 | g.660434C= | CA1432855016 | PDE6B | c.1468-33C= (n.1468-33C=) c.631-33C= (n.631-33C=) c.1687-33C= (n.1687-33C=) c.673-33C= (n.673-33C=) c.397-33C= (n.397-33C=) c.313-33C= (n.313-33C=) | |
4 | g.660434C>G | CA2794544 | PDE6B | c.1468-33C>G (n.1468-33C>G) c.631-33C>G (n.631-33C>G) c.1687-33C>G (n.1687-33C>G) c.673-33C>G (n.673-33C>G) c.397-33C>G (n.397-33C>G) c.313-33C>G (n.313-33C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660434C>T | CA2590977342 | PDE6B | c.1468-33C>T (n.1468-33C>T) c.631-33C>T (n.631-33C>T) c.1687-33C>T (n.1687-33C>T) c.673-33C>T (n.673-33C>T) c.397-33C>T (n.397-33C>T) c.313-33C>T (n.313-33C>T) | gnomAD v3 gnomAD v4 |
4 | g.660435C= | CA1432855017 | PDE6B | c.1468-32C= (n.1468-32C=) c.631-32C= (n.631-32C=) c.1687-32C= (n.1687-32C=) c.673-32C= (n.673-32C=) c.397-32C= (n.397-32C=) c.313-32C= (n.313-32C=) | |
4 | g.660435C>T | CA2794545 | PDE6B | c.1468-32C>T (n.1468-32C>T) c.631-32C>T (n.631-32C>T) c.1687-32C>T (n.1687-32C>T) c.673-32C>T (n.673-32C>T) c.397-32C>T (n.397-32C>T) c.313-32C>T (n.313-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660437A= | CA1432855018 | PDE6B | c.1468-30A= (n.1468-30A=) c.631-30A= (n.631-30A=) c.1687-30A= (n.1687-30A=) c.673-30A= (n.673-30A=) c.397-30A= (n.397-30A=) c.313-30A= (n.313-30A=) | |
4 | g.660437A>C | CA1432855020 | PDE6B | c.1468-30A>C (n.1468-30A>C) c.631-30A>C (n.631-30A>C) c.1687-30A>C (n.1687-30A>C) c.673-30A>C (n.673-30A>C) c.397-30A>C (n.397-30A>C) c.313-30A>C (n.313-30A>C) | dbSNP |
4 | g.660438C>A | CA1432855023 | PDE6B | c.1468-29C>A (n.1468-29C>A) c.631-29C>A (n.631-29C>A) c.1687-29C>A (n.1687-29C>A) c.673-29C>A (n.673-29C>A) c.397-29C>A (n.397-29C>A) c.313-29C>A (n.313-29C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660438C= | CA1432855022 | PDE6B | c.1468-29C= (n.1468-29C=) c.631-29C= (n.631-29C=) c.1687-29C= (n.1687-29C=) c.673-29C= (n.673-29C=) c.397-29C= (n.397-29C=) c.313-29C= (n.313-29C=) | |
4 | g.660438C>T | CA648268433 | PDE6B | c.1468-29C>T (n.1468-29C>T) c.631-29C>T (n.631-29C>T) c.1687-29C>T (n.1687-29C>T) c.673-29C>T (n.673-29C>T) c.397-29C>T (n.397-29C>T) c.313-29C>T (n.313-29C>T) | dbSNP COSMIC |
4 | g.660442_660445del | CA2704991626 | PDE6B | c.1468-25_1468-22del (n.1468-25_1468-22del) c.631-25_631-22del (n.631-25_631-22del) c.1687-25_1687-22del (n.1687-25_1687-22del) c.673-25_673-22del (n.673-25_673-22del) c.397-25_397-22del (n.397-25_397-22del) c.313-25_313-22del (n.313-25_313-22del) | dbSNP |
4 | g.660439C= | CA1432855025 | PDE6B | c.1468-28C= (n.1468-28C=) c.631-28C= (n.631-28C=) c.1687-28C= (n.1687-28C=) c.673-28C= (n.673-28C=) c.397-28C= (n.397-28C=) c.313-28C= (n.313-28C=) | |
4 | g.660439C>T | CA797478335 | PDE6B | c.1468-28C>T (n.1468-28C>T) c.631-28C>T (n.631-28C>T) c.1687-28C>T (n.1687-28C>T) c.673-28C>T (n.673-28C>T) c.397-28C>T (n.397-28C>T) c.313-28C>T (n.313-28C>T) | dbSNP |
4 | g.660441C= | CA1432855027 | PDE6B | c.1468-26C= (n.1468-26C=) c.631-26C= (n.631-26C=) c.1687-26C= (n.1687-26C=) c.673-26C= (n.673-26C=) c.397-26C= (n.397-26C=) c.313-26C= (n.313-26C=) | |
4 | g.660441C>T | CA549125529 | PDE6B | c.1468-26C>T (n.1468-26C>T) c.631-26C>T (n.631-26C>T) c.1687-26C>T (n.1687-26C>T) c.673-26C>T (n.673-26C>T) c.397-26C>T (n.397-26C>T) c.313-26C>T (n.313-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660443del | CA2669419670 | PDE6B | c.1468-24del (n.1468-24del) c.631-24del (n.631-24del) c.1687-24del (n.1687-24del) c.673-24del (n.673-24del) c.397-24del (n.397-24del) c.313-24del (n.313-24del) | gnomAD v4 |
4 | g.660442C= | CA1432855029 | PDE6B | c.1468-25C= (n.1468-25C=) c.631-25C= (n.631-25C=) c.1687-25C= (n.1687-25C=) c.673-25C= (n.673-25C=) c.397-25C= (n.397-25C=) c.313-25C= (n.313-25C=) | |
4 | g.660442C>G | CA2794546 | PDE6B | c.1468-25C>G (n.1468-25C>G) c.631-25C>G (n.631-25C>G) c.1687-25C>G (n.1687-25C>G) c.673-25C>G (n.673-25C>G) c.397-25C>G (n.397-25C>G) c.313-25C>G (n.313-25C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660442C>T | CA549125533 | PDE6B | c.1468-25C>T (n.1468-25C>T) c.631-25C>T (n.631-25C>T) c.1687-25C>T (n.1687-25C>T) c.673-25C>T (n.673-25C>T) c.397-25C>T (n.397-25C>T) c.313-25C>T (n.313-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660443C= | CA1432855030 | PDE6B | c.1468-24C= (n.1468-24C=) c.631-24C= (n.631-24C=) c.1687-24C= (n.1687-24C=) c.673-24C= (n.673-24C=) c.397-24C= (n.397-24C=) c.313-24C= (n.313-24C=) | |
4 | g.660443C>G | CA2794547 | PDE6B | c.1468-24C>G (n.1468-24C>G) c.631-24C>G (n.631-24C>G) c.1687-24C>G (n.1687-24C>G) c.673-24C>G (n.673-24C>G) c.397-24C>G (n.397-24C>G) c.313-24C>G (n.313-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660444T>A | CA437897642 | PDE6B | c.1468-23T>A (n.1468-23T>A) c.631-23T>A (n.631-23T>A) c.1687-23T>A (n.1687-23T>A) c.673-23T>A (n.673-23T>A) c.397-23T>A (n.397-23T>A) c.313-23T>A (n.313-23T>A) | |
4 | g.660448_660466dup | CA2760112405 | PDE6B | c.1468-19_1468-1dup (n.1468-19_1468-1dup) c.631-19_631-1dup (n.631-19_631-1dup) c.1687-19_1687-1dup (n.1687-19_1687-1dup) c.673-19_673-1dup (n.673-19_673-1dup) c.397-19_397-1dup (n.397-19_397-1dup) c.313-19_313-1dup (n.313-19_313-1dup) | |
4 | g.660446A= | CA1432855032 | PDE6B | c.1468-21A= (n.1468-21A=) c.631-21A= (n.631-21A=) c.1687-21A= (n.1687-21A=) c.673-21A= (n.673-21A=) c.397-21A= (n.397-21A=) c.313-21A= (n.313-21A=) | |
4 | g.660446A>G | CA91087290 | PDE6B | c.1468-21A>G (n.1468-21A>G) c.631-21A>G (n.631-21A>G) c.1687-21A>G (n.1687-21A>G) c.673-21A>G (n.673-21A>G) c.397-21A>G (n.397-21A>G) c.313-21A>G (n.313-21A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660447G>A | CA2669419671 | PDE6B | c.1468-20G>A (n.1468-20G>A) c.631-20G>A (n.631-20G>A) c.1687-20G>A (n.1687-20G>A) c.673-20G>A (n.673-20G>A) c.397-20G>A (n.397-20G>A) c.313-20G>A (n.313-20G>A) | gnomAD v4 |
4 | g.660447G>C | CA2794548 | PDE6B | c.1468-20G>C (n.1468-20G>C) c.631-20G>C (n.631-20G>C) c.1687-20G>C (n.1687-20G>C) c.673-20G>C (n.673-20G>C) c.397-20G>C (n.397-20G>C) c.313-20G>C (n.313-20G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660447G= | CA1432855033 | PDE6B | c.1468-20G= (n.1468-20G=) c.631-20G= (n.631-20G=) c.1687-20G= (n.1687-20G=) c.673-20G= (n.673-20G=) c.397-20G= (n.397-20G=) c.313-20G= (n.313-20G=) | |
4 | g.660449C= | CA1432855034 | PDE6B | c.1468-18C= (n.1468-18C=) c.631-18C= (n.631-18C=) c.1687-18C= (n.1687-18C=) c.673-18C= (n.673-18C=) c.397-18C= (n.397-18C=) c.313-18C= (n.313-18C=) | |
4 | g.660449C>G | CA2794549 | PDE6B | c.1468-18C>G (n.1468-18C>G) c.631-18C>G (n.631-18C>G) c.1687-18C>G (n.1687-18C>G) c.673-18C>G (n.673-18C>G) c.397-18C>G (n.397-18C>G) c.313-18C>G (n.313-18C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660449C>T | CA2794550 | PDE6B | c.1468-18C>T (n.1468-18C>T) c.631-18C>T (n.631-18C>T) c.1687-18C>T (n.1687-18C>T) c.673-18C>T (n.673-18C>T) c.397-18C>T (n.397-18C>T) c.313-18C>T (n.313-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660450C= | CA1432855036 | PDE6B | c.1468-17C= (n.1468-17C=) c.631-17C= (n.631-17C=) c.1687-17C= (n.1687-17C=) c.673-17C= (n.673-17C=) c.397-17C= (n.397-17C=) c.313-17C= (n.313-17C=) | |
4 | g.660450C>T | CA549125544 | PDE6B | c.1468-17C>T (n.1468-17C>T) c.631-17C>T (n.631-17C>T) c.1687-17C>T (n.1687-17C>T) c.673-17C>T (n.673-17C>T) c.397-17C>T (n.397-17C>T) c.313-17C>T (n.313-17C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660451A>G | CA2669419673 | PDE6B | c.1468-16A>G (n.1468-16A>G) c.631-16A>G (n.631-16A>G) c.1687-16A>G (n.1687-16A>G) c.673-16A>G (n.673-16A>G) c.397-16A>G (n.397-16A>G) c.313-16A>G (n.313-16A>G) | gnomAD v4 |
4 | g.660452C= | CA1432855038 | PDE6B | c.1468-15C= (n.1468-15C=) c.631-15C= (n.631-15C=) c.1687-15C= (n.1687-15C=) c.673-15C= (n.673-15C=) c.397-15C= (n.397-15C=) c.313-15C= (n.313-15C=) | |
4 | g.660452C>T | CA2794551 | PDE6B | c.1468-15C>T (n.1468-15C>T) c.631-15C>T (n.631-15C>T) c.1687-15C>T (n.1687-15C>T) c.673-15C>T (n.673-15C>T) c.397-15C>T (n.397-15C>T) c.313-15C>T (n.313-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660454A= | CA1432855039 | PDE6B | c.1468-13A= (n.1468-13A=) c.631-13A= (n.631-13A=) c.1687-13A= (n.1687-13A=) c.673-13A= (n.673-13A=) c.397-13A= (n.397-13A=) c.313-13A= (n.313-13A=) | |
4 | g.660454A>G | CA549125552 | PDE6B | c.1468-13A>G (n.1468-13A>G) c.631-13A>G (n.631-13A>G) c.1687-13A>G (n.1687-13A>G) c.673-13A>G (n.673-13A>G) c.397-13A>G (n.397-13A>G) c.313-13A>G (n.313-13A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660456C>A | CA648268435 | PDE6B | c.1468-11C>A (n.1468-11C>A) c.631-11C>A (n.631-11C>A) c.1687-11C>A (n.1687-11C>A) c.673-11C>A (n.673-11C>A) c.397-11C>A (n.397-11C>A) c.313-11C>A (n.313-11C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.660456C= | CA1432855041 | PDE6B | c.1468-11C= (n.1468-11C=) c.631-11C= (n.631-11C=) c.1687-11C= (n.1687-11C=) c.673-11C= (n.673-11C=) c.397-11C= (n.397-11C=) c.313-11C= (n.313-11C=) | |
4 | g.660456C>T | CA2669419675 | PDE6B | c.1468-11C>T (n.1468-11C>T) c.631-11C>T (n.631-11C>T) c.1687-11C>T (n.1687-11C>T) c.673-11C>T (n.673-11C>T) c.397-11C>T (n.397-11C>T) c.313-11C>T (n.313-11C>T) | gnomAD v4 |
4 | g.660458C>T | CA2669419676 | PDE6B | c.1468-9C>T (n.1468-9C>T) c.631-9C>T (n.631-9C>T) c.1687-9C>T (n.1687-9C>T) c.673-9C>T (n.673-9C>T) c.397-9C>T (n.397-9C>T) c.313-9C>T (n.313-9C>T) | gnomAD v4 |
4 | g.660460C= | CA1432855042 | PDE6B | c.1468-7C= (n.1468-7C=) c.631-7C= (n.631-7C=) c.1687-7C= (n.1687-7C=) c.673-7C= (n.673-7C=) c.397-7C= (n.397-7C=) c.313-7C= (n.313-7C=) | |
4 | g.660460C>G | CA645539611 | PDE6B | c.1468-7C>G (n.1468-7C>G) c.631-7C>G (n.631-7C>G) c.1687-7C>G (n.1687-7C>G) c.673-7C>G (n.673-7C>G) c.397-7C>G (n.397-7C>G) c.313-7C>G (n.313-7C>G) | COSMIC |
4 | g.660460C>T | CA549125554 | PDE6B | c.1468-7C>T (n.1468-7C>T) c.631-7C>T (n.631-7C>T) c.1687-7C>T (n.1687-7C>T) c.673-7C>T (n.673-7C>T) c.397-7C>T (n.397-7C>T) c.313-7C>T (n.313-7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660462C>A | CA2760112407 | PDE6B | c.1468-5C>A (n.1468-5C>A) c.631-5C>A (n.631-5C>A) c.1687-5C>A (n.1687-5C>A) c.673-5C>A (n.673-5C>A) c.397-5C>A (n.397-5C>A) c.313-5C>A (n.313-5C>A) | |
4 | g.660463A>C | CA2669419677 | PDE6B | c.1468-4A>C (n.1468-4A>C) c.631-4A>C (n.631-4A>C) c.1687-4A>C (n.1687-4A>C) c.673-4A>C (n.673-4A>C) c.397-4A>C (n.397-4A>C) c.313-4A>C (n.313-4A>C) | gnomAD v4 |
4 | g.660464_660467delinsCAGA | CA1432855044 | PDE6B | c.1468-3_1468delinsCAGA c.631-3_631delinsCAGA c.1687-3_1687delinsCAGA c.673-3_673delinsCAGA c.397-3_397delinsCAGA c.313-3_313delinsCAGA | |
4 | g.660465A= | CA1432855047 | PDE6B | c.1468-2A= (n.1468-2A=) c.631-2A= (n.631-2A=) c.1687-2A= (n.1687-2A=) c.673-2A= (n.673-2A=) c.397-2A= (n.397-2A=) c.313-2A= (n.313-2A=) | |
4 | g.660465A>C | CA355915697 | PDE6B | c.1468-2A>C (n.1468-2A>C) c.631-2A>C (n.631-2A>C) c.1687-2A>C (n.1687-2A>C) c.673-2A>C (n.673-2A>C) c.397-2A>C (n.397-2A>C) c.313-2A>C (n.313-2A>C) | |
4 | g.660465A>G | CA2794553 | PDE6B | c.1468-2A>G (n.1468-2A>G) c.631-2A>G (n.631-2A>G) c.1687-2A>G (n.1687-2A>G) c.673-2A>G (n.673-2A>G) c.397-2A>G (n.397-2A>G) c.313-2A>G (n.313-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660465A>T | CA355915696 | PDE6B | c.1468-2A>T (n.1468-2A>T) c.631-2A>T (n.631-2A>T) c.1687-2A>T (n.1687-2A>T) c.673-2A>T (n.673-2A>T) c.397-2A>T (n.397-2A>T) c.313-2A>T (n.313-2A>T) | |
4 | g.660467_660469del | CA2794552 | PDE6B | c.1468_1470del c.631_633del c.1687_1689del c.673_675del c.397_399del c.313_315del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660466G>A | CA91087334 | PDE6B | c.1468-1G>A (n.1468-1G>A) c.631-1G>A (n.631-1G>A) c.1687-1G>A (n.1687-1G>A) c.673-1G>A (n.673-1G>A) c.397-1G>A (n.397-1G>A) c.313-1G>A (n.313-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660466G>C | CA355915698 | PDE6B | c.1468-1G>C (n.1468-1G>C) c.631-1G>C (n.631-1G>C) c.1687-1G>C (n.1687-1G>C) c.673-1G>C (n.673-1G>C) c.397-1G>C (n.397-1G>C) c.313-1G>C (n.313-1G>C) | |
4 | g.660466G= | CA1432855052 | PDE6B | c.1468-1G= (n.1468-1G=) c.631-1G= (n.631-1G=) c.1687-1G= (n.1687-1G=) c.673-1G= (n.673-1G=) c.397-1G= (n.397-1G=) c.313-1G= (n.313-1G=) | |
4 | g.660466G>T | CA355915699 | PDE6B | c.1468-1G>T (n.1468-1G>T) c.631-1G>T (n.631-1G>T) c.1687-1G>T (n.1687-1G>T) c.673-1G>T (n.673-1G>T) c.397-1G>T (n.397-1G>T) c.313-1G>T (n.313-1G>T) | |
4 | g.660467A>C | CA355915700 | PDE6B | c.1468A>C (p.Lys490Gln) c.631A>C (p.Lys211Gln) c.1687A>C (p.Lys563Gln) c.673A>C (p.Lys225Gln) c.397A>C (p.Lys133Gln) c.313A>C (p.Lys105Gln) | |
4 | g.660467A>G | CA355915701 | PDE6B | c.1468A>G (p.Lys490Glu) c.631A>G (p.Lys211Glu) c.1687A>G (p.Lys563Glu) c.673A>G (p.Lys225Glu) c.397A>G (p.Lys133Glu) c.313A>G (p.Lys105Glu) | |
4 | g.660467A>T | CA355915702 | PDE6B | c.1468A>T (p.Lys490Ter) c.631A>T (p.Lys211Ter) c.1687A>T (p.Lys563Ter) c.673A>T (p.Lys225Ter) c.397A>T (p.Lys133Ter) c.313A>T (p.Lys105Ter) | |
4 | g.660467_660470delinsAAGG | CA1432855054 | PDE6B | c.1468_1471delinsAAGG (p.Lys490=) c.631_634delinsAAGG (p.Lys211=) c.1687_1690delinsAAGG (p.Lys563=) c.673_676delinsAAGG (p.Lys225=) c.397_400delinsAAGG (p.Lys133=) c.313_316delinsAAGG (p.Lys105=) | |
4 | g.660468A= | CA1432855056 | PDE6B | c.1469A= (p.Lys490=) c.632A= (p.Lys211=) c.1688A= (p.Lys563=) c.674A= (p.Lys225=) c.398A= (p.Lys133=) c.314A= (p.Lys105=) | |
4 | g.660468A>C | CA355915703 | PDE6B | c.1469A>C (p.Lys490Thr) c.632A>C (p.Lys211Thr) c.1688A>C (p.Lys563Thr) c.674A>C (p.Lys225Thr) c.398A>C (p.Lys133Thr) c.314A>C (p.Lys105Thr) | |
4 | g.660468A>G | CA355915704 | PDE6B | c.1469A>G (p.Lys490Arg) c.632A>G (p.Lys211Arg) c.1688A>G (p.Lys563Arg) c.674A>G (p.Lys225Arg) c.398A>G (p.Lys133Arg) c.314A>G (p.Lys105Arg) | dbSNP |
4 | g.660468A>T | CA355915705 | PDE6B | c.1469A>T (p.Lys490Met) c.632A>T (p.Lys211Met) c.1688A>T (p.Lys563Met) c.674A>T (p.Lys225Met) c.398A>T (p.Lys133Met) c.314A>T (p.Lys105Met) | |
4 | g.660473_660475del | CA2794554 | PDE6B | c.1474_1476del (p.Glu492del) c.637_639del (p.Glu213del) c.1693_1695del (p.Glu565del) c.679_681del (p.Glu227del) c.403_405del (p.Glu135del) c.319_321del (p.Glu107del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660469G>A | CA437897648 | PDE6B | c.1470G>A (p.Lys490=) c.633G>A (p.Lys211=) c.1689G>A (p.Lys563=) c.675G>A (p.Lys225=) c.399G>A (p.Lys133=) c.315G>A (p.Lys105=) | gnomAD v4 |
4 | g.660469G>C | CA355915708 | PDE6B | c.1470G>C (p.Lys490Asn) c.633G>C (p.Lys211Asn) c.1689G>C (p.Lys563Asn) c.675G>C (p.Lys225Asn) c.399G>C (p.Lys133Asn) c.315G>C (p.Lys105Asn) | |
4 | g.660469G= | CA1432855058 | PDE6B | c.1470G= (p.Lys490=) c.633G= (p.Lys211=) c.1689G= (p.Lys563=) c.675G= (p.Lys225=) c.399G= (p.Lys133=) c.315G= (p.Lys105=) | |
4 | g.660469G>T | CA355915710 | PDE6B | c.1470G>T (p.Lys490Asn) c.633G>T (p.Lys211Asn) c.1689G>T (p.Lys563Asn) c.675G>T (p.Lys225Asn) c.399G>T (p.Lys133Asn) c.315G>T (p.Lys105Asn) | dbSNP gnomAD v4 |
4 | g.660470G>A | CA355915716 | PDE6B | c.1471G>A (p.Glu491Lys) c.634G>A (p.Glu212Lys) c.1690G>A (p.Glu564Lys) c.676G>A (p.Glu226Lys) c.400G>A (p.Glu134Lys) c.316G>A (p.Glu106Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
4 | g.660470G>C | CA355915712 | PDE6B | c.1471G>C (p.Glu491Gln) c.634G>C (p.Glu212Gln) c.1690G>C (p.Glu564Gln) c.676G>C (p.Glu226Gln) c.400G>C (p.Glu134Gln) c.316G>C (p.Glu106Gln) | |
4 | g.660470G>T | CA355915714 | PDE6B | c.1471G>T (p.Glu491Ter) c.634G>T (p.Glu212Ter) c.1690G>T (p.Glu564Ter) c.676G>T (p.Glu226Ter) c.400G>T (p.Glu134Ter) c.316G>T (p.Glu106Ter) | |
4 | g.660471A>C | CA355915718 | PDE6B | c.1472A>C (p.Glu491Ala) c.635A>C (p.Glu212Ala) c.1691A>C (p.Glu564Ala) c.677A>C (p.Glu226Ala) c.401A>C (p.Glu134Ala) c.317A>C (p.Glu106Ala) | |
4 | g.660471A>G | CA355915720 | PDE6B | c.1472A>G (p.Glu491Gly) c.635A>G (p.Glu212Gly) c.1691A>G (p.Glu564Gly) c.677A>G (p.Glu226Gly) c.401A>G (p.Glu134Gly) c.317A>G (p.Glu106Gly) | gnomAD v4 |
4 | g.660471A>T | CA355915721 | PDE6B | c.1472A>T (p.Glu491Val) c.635A>T (p.Glu212Val) c.1691A>T (p.Glu564Val) c.677A>T (p.Glu226Val) c.401A>T (p.Glu134Val) c.317A>T (p.Glu106Val) | |
4 | g.660472G>A | CA437897651 | PDE6B | c.1473G>A (p.Glu491=) c.636G>A (p.Glu212=) c.1692G>A (p.Glu564=) c.678G>A (p.Glu226=) c.402G>A (p.Glu134=) c.318G>A (p.Glu106=) | |
4 | g.660472G>C | CA355915723 | PDE6B | c.1473G>C (p.Glu491Asp) c.636G>C (p.Glu212Asp) c.1692G>C (p.Glu564Asp) c.678G>C (p.Glu226Asp) c.402G>C (p.Glu134Asp) c.318G>C (p.Glu106Asp) | |
4 | g.660472G>T | CA355915725 | PDE6B | c.1473G>T (p.Glu491Asp) c.636G>T (p.Glu212Asp) c.1692G>T (p.Glu564Asp) c.678G>T (p.Glu226Asp) c.402G>T (p.Glu134Asp) c.318G>T (p.Glu106Asp) | |
4 | g.660473G>A | CA2794555 | PDE6B | c.1474G>A (p.Glu492Lys) c.637G>A (p.Glu213Lys) c.1693G>A (p.Glu565Lys) c.679G>A (p.Glu227Lys) c.403G>A (p.Glu135Lys) c.319G>A (p.Glu107Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660473G>C | CA355915729 | PDE6B | c.1474G>C (p.Glu492Gln) c.637G>C (p.Glu213Gln) c.1693G>C (p.Glu565Gln) c.679G>C (p.Glu227Gln) c.403G>C (p.Glu135Gln) c.319G>C (p.Glu107Gln) | |
4 | g.660473G= | CA1432855060 | PDE6B | c.1474G= (p.Glu492=) c.637G= (p.Glu213=) c.1693G= (p.Glu565=) c.679G= (p.Glu227=) c.403G= (p.Glu135=) c.319G= (p.Glu107=) | |
4 | g.660473G>T | CA355915731 | PDE6B | c.1474G>T (p.Glu492Ter) c.637G>T (p.Glu213Ter) c.1693G>T (p.Glu565Ter) c.679G>T (p.Glu227Ter) c.403G>T (p.Glu135Ter) c.319G>T (p.Glu107Ter) | |
4 | g.660474A>C | CA355915732 | PDE6B | c.1475A>C (p.Glu492Ala) c.638A>C (p.Glu213Ala) c.1694A>C (p.Glu565Ala) c.680A>C (p.Glu227Ala) c.404A>C (p.Glu135Ala) c.320A>C (p.Glu107Ala) | |
4 | g.660474A>G | CA355915733 | PDE6B | c.1475A>G (p.Glu492Gly) c.638A>G (p.Glu213Gly) c.1694A>G (p.Glu565Gly) c.680A>G (p.Glu227Gly) c.404A>G (p.Glu135Gly) c.320A>G (p.Glu107Gly) | gnomAD v4 |
4 | g.660474A>T | CA355915735 | PDE6B | c.1475A>T (p.Glu492Val) c.638A>T (p.Glu213Val) c.1694A>T (p.Glu565Val) c.680A>T (p.Glu227Val) c.404A>T (p.Glu135Val) c.320A>T (p.Glu107Val) | |
4 | g.660475G>A | CA437897654 | PDE6B | c.1476G>A (p.Glu492=) c.639G>A (p.Glu213=) c.1695G>A (p.Glu565=) c.681G>A (p.Glu227=) c.405G>A (p.Glu135=) c.321G>A (p.Glu107=) | |
4 | g.660475G>C | CA355915737 | PDE6B | c.1476G>C (p.Glu492Asp) c.639G>C (p.Glu213Asp) c.1695G>C (p.Glu565Asp) c.681G>C (p.Glu227Asp) c.405G>C (p.Glu135Asp) c.321G>C (p.Glu107Asp) | |
4 | g.660475G>T | CA355915739 | PDE6B | c.1476G>T (p.Glu492Asp) c.639G>T (p.Glu213Asp) c.1695G>T (p.Glu565Asp) c.681G>T (p.Glu227Asp) c.405G>T (p.Glu135Asp) c.321G>T (p.Glu107Asp) | |
4 | g.660476C>A | CA355915743 | PDE6B | c.1477C>A (p.Leu493Met) c.640C>A (p.Leu214Met) c.1696C>A (p.Leu566Met) c.682C>A (p.Leu228Met) c.406C>A (p.Leu136Met) c.322C>A (p.Leu108Met) | |
4 | g.660476C= | CA1432855062 | PDE6B | c.1477C= (p.Leu493=) c.640C= (p.Leu214=) c.1696C= (p.Leu566=) c.682C= (p.Leu228=) c.406C= (p.Leu136=) c.322C= (p.Leu108=) | |
4 | g.660476C>G | CA355915741 | PDE6B | c.1477C>G (p.Leu493Val) c.640C>G (p.Leu214Val) c.1696C>G (p.Leu566Val) c.682C>G (p.Leu228Val) c.406C>G (p.Leu136Val) c.322C>G (p.Leu108Val) | |
4 | g.660476C>T | CA437897655 | PDE6B | c.1477C>T (p.Leu493=) c.640C>T (p.Leu214=) c.1696C>T (p.Leu566=) c.682C>T (p.Leu228=) c.406C>T (p.Leu136=) c.322C>T (p.Leu108=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660477T>A | CA355915745 | PDE6B | c.1478T>A (p.Leu493Gln) c.641T>A (p.Leu214Gln) c.1697T>A (p.Leu566Gln) c.683T>A (p.Leu228Gln) c.407T>A (p.Leu136Gln) c.323T>A (p.Leu108Gln) | |
4 | g.660477T>C | CA355915749 | PDE6B | c.1478T>C (p.Leu493Pro) c.641T>C (p.Leu214Pro) c.1697T>C (p.Leu566Pro) c.683T>C (p.Leu228Pro) c.407T>C (p.Leu136Pro) c.323T>C (p.Leu108Pro) | |
4 | g.660477T>G | CA355915747 | PDE6B | c.1478T>G (p.Leu493Arg) c.641T>G (p.Leu214Arg) c.1697T>G (p.Leu566Arg) c.683T>G (p.Leu228Arg) c.407T>G (p.Leu136Arg) c.323T>G (p.Leu108Arg) | |
4 | g.660478G>A | CA437897656 | PDE6B | c.1479G>A (p.Leu493=) c.642G>A (p.Leu214=) c.1698G>A (p.Leu566=) c.684G>A (p.Leu228=) c.408G>A (p.Leu136=) c.324G>A (p.Leu108=) | |
4 | g.660478G>C | CA437897657 | PDE6B | c.1479G>C (p.Leu493=) c.642G>C (p.Leu214=) c.1698G>C (p.Leu566=) c.684G>C (p.Leu228=) c.408G>C (p.Leu136=) c.324G>C (p.Leu108=) | |
4 | g.660478G>T | CA437897658 | PDE6B | c.1479G>T (p.Leu493=) c.642G>T (p.Leu214=) c.1698G>T (p.Leu566=) c.684G>T (p.Leu228=) c.408G>T (p.Leu136=) c.324G>T (p.Leu108=) | gnomAD v4 COSMIC |
4 | g.660479C>A | CA355915751 | PDE6B | c.1480C>A (p.Pro494Thr) c.643C>A (p.Pro215Thr) c.1699C>A (p.Pro567Thr) c.685C>A (p.Pro229Thr) c.409C>A (p.Pro137Thr) c.325C>A (p.Pro109Thr) | |
4 | g.660479C= | CA1432855067 | PDE6B | c.1480C= (p.Pro494=) c.643C= (p.Pro215=) c.1699C= (p.Pro567=) c.685C= (p.Pro229=) c.409C= (p.Pro137=) c.325C= (p.Pro109=) | |
4 | g.660479C>G | CA355915752 | PDE6B | c.1480C>G (p.Pro494Ala) c.643C>G (p.Pro215Ala) c.1699C>G (p.Pro567Ala) c.685C>G (p.Pro229Ala) c.409C>G (p.Pro137Ala) c.325C>G (p.Pro109Ala) | |
4 | g.660479C>T | CA355915754 | PDE6B | c.1480C>T (p.Pro494Ser) c.643C>T (p.Pro215Ser) c.1699C>T (p.Pro567Ser) c.685C>T (p.Pro229Ser) c.409C>T (p.Pro137Ser) c.325C>T (p.Pro109Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660480C>A | CA355915755 | PDE6B | c.1481C>A (p.Pro494Gln) c.644C>A (p.Pro215Gln) c.1700C>A (p.Pro567Gln) c.686C>A (p.Pro229Gln) c.410C>A (p.Pro137Gln) c.326C>A (p.Pro109Gln) | |
4 | g.660480C= | CA1432855069 | PDE6B | c.1481C= (p.Pro494=) c.644C= (p.Pro215=) c.1700C= (p.Pro567=) c.686C= (p.Pro229=) c.410C= (p.Pro137=) c.326C= (p.Pro109=) | |
4 | g.660480C>G | CA355915757 | PDE6B | c.1481C>G (p.Pro494Arg) c.644C>G (p.Pro215Arg) c.1700C>G (p.Pro567Arg) c.686C>G (p.Pro229Arg) c.410C>G (p.Pro137Arg) c.326C>G (p.Pro109Arg) | |
4 | g.660480C>T | CA355915760 | PDE6B | c.1481C>T (p.Pro494Leu) c.644C>T (p.Pro215Leu) c.1700C>T (p.Pro567Leu) c.686C>T (p.Pro229Leu) c.410C>T (p.Pro137Leu) c.326C>T (p.Pro109Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660481A= | CA1432855074 | PDE6B | c.1482A= (p.Pro494=) c.645A= (p.Pro215=) c.1701A= (p.Pro567=) c.687A= (p.Pro229=) c.411A= (p.Pro137=) c.327A= (p.Pro109=) | |
4 | g.660481A>C | CA437897662 | PDE6B | c.1482A>C (p.Pro494=) c.645A>C (p.Pro215=) c.1701A>C (p.Pro567=) c.687A>C (p.Pro229=) c.411A>C (p.Pro137=) c.327A>C (p.Pro109=) | |
4 | g.660481A>G | CA437897663 | PDE6B | c.1482A>G (p.Pro494=) c.645A>G (p.Pro215=) c.1701A>G (p.Pro567=) c.687A>G (p.Pro229=) c.411A>G (p.Pro137=) c.327A>G (p.Pro109=) | |
4 | g.660481A>T | CA437897664 | PDE6B | c.1482A>T (p.Pro494=) c.645A>T (p.Pro215=) c.1701A>T (p.Pro567=) c.687A>T (p.Pro229=) c.411A>T (p.Pro137=) c.327A>T (p.Pro109=) | |
4 | g.660482G>A | CA355915762 | PDE6B | c.1483G>A (p.Gly495Arg) c.646G>A (p.Gly216Arg) c.1702G>A (p.Gly568Arg) c.688G>A (p.Gly230Arg) c.412G>A (p.Gly138Arg) c.328G>A (p.Gly110Arg) | |
4 | g.660482G>C | CA355915764 | PDE6B | c.1483G>C (p.Gly495Arg) c.646G>C (p.Gly216Arg) c.1702G>C (p.Gly568Arg) c.688G>C (p.Gly230Arg) c.412G>C (p.Gly138Arg) c.328G>C (p.Gly110Arg) | dbSNP gnomAD v4 |
4 | g.660482G= | CA1432855078 | PDE6B | c.1483G= (p.Gly495=) c.646G= (p.Gly216=) c.1702G= (p.Gly568=) c.688G= (p.Gly230=) c.412G= (p.Gly138=) c.328G= (p.Gly110=) | |
4 | g.660482G>T | CA355915766 | PDE6B | c.1483G>T (p.Gly495Trp) c.646G>T (p.Gly216Trp) c.1702G>T (p.Gly568Trp) c.688G>T (p.Gly230Trp) c.412G>T (p.Gly138Trp) c.328G>T (p.Gly110Trp) | |
4 | g.660484dup | CA645509144 | PDE6B | c.1485dup (p.Pro496AlafsTer5) c.648dup (p.Pro217AlafsTer5) c.1704dup (p.Pro569AlafsTer5) c.690dup (p.Pro231AlafsTer5) c.414dup (p.Pro139AlafsTer5) c.330dup (p.Pro111AlafsTer5) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.660483G>A | CA355915768 | PDE6B | c.1484G>A (p.Gly495Glu) c.647G>A (p.Gly216Glu) c.1703G>A (p.Gly568Glu) c.689G>A (p.Gly230Glu) c.413G>A (p.Gly138Glu) c.329G>A (p.Gly110Glu) | gnomAD v4 |
4 | g.660483G>C | CA355915770 | PDE6B | c.1484G>C (p.Gly495Ala) c.647G>C (p.Gly216Ala) c.1703G>C (p.Gly568Ala) c.689G>C (p.Gly230Ala) c.413G>C (p.Gly138Ala) c.329G>C (p.Gly110Ala) | |
4 | g.660483G>T | CA355915771 | PDE6B | c.1484G>T (p.Gly495Val) c.647G>T (p.Gly216Val) c.1703G>T (p.Gly568Val) c.689G>T (p.Gly230Val) c.413G>T (p.Gly138Val) c.329G>T (p.Gly110Val) | COSMIC |
4 | g.660484G>A | CA437897666 | PDE6B | c.1485G>A (p.Gly495=) c.648G>A (p.Gly216=) c.1704G>A (p.Gly568=) c.690G>A (p.Gly230=) c.414G>A (p.Gly138=) c.330G>A (p.Gly110=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660484G>C | CA437897667 | PDE6B | c.1485G>C (p.Gly495=) c.648G>C (p.Gly216=) c.1704G>C (p.Gly568=) c.690G>C (p.Gly230=) c.414G>C (p.Gly138=) c.330G>C (p.Gly110=) | |
4 | g.660484G= | CA1432855083 | PDE6B | c.1485G= (p.Gly495=) c.648G= (p.Gly216=) c.1704G= (p.Gly568=) c.690G= (p.Gly230=) c.414G= (p.Gly138=) c.330G= (p.Gly110=) | |
4 | g.660484G>T | CA437897668 | PDE6B | c.1485G>T (p.Gly495=) c.648G>T (p.Gly216=) c.1704G>T (p.Gly568=) c.690G>T (p.Gly230=) c.414G>T (p.Gly138=) c.330G>T (p.Gly110=) | |
4 | g.660484_660485delinsGC | CA1432855082 | PDE6B | c.1485_1486delinsGC (p.Gly495=) c.648_649delinsGC (p.Gly216=) c.1704_1705delinsGC (p.Gly568=) c.690_691delinsGC (p.Gly230=) c.414_415delinsGC (p.Gly138=) c.330_331delinsGC (p.Gly110=) | |
4 | g.660485C>A | CA355915777 | PDE6B | c.1486C>A (p.Pro496Thr) c.649C>A (p.Pro217Thr) c.1705C>A (p.Pro569Thr) c.691C>A (p.Pro231Thr) c.415C>A (p.Pro139Thr) c.331C>A (p.Pro111Thr) | |
4 | g.660485C>G | CA355915776 | PDE6B | c.1486C>G (p.Pro496Ala) c.649C>G (p.Pro217Ala) c.1705C>G (p.Pro569Ala) c.691C>G (p.Pro231Ala) c.415C>G (p.Pro139Ala) c.331C>G (p.Pro111Ala) | |
4 | g.660485C>T | CA355915774 | PDE6B | c.1486C>T (p.Pro496Ser) c.649C>T (p.Pro217Ser) c.1705C>T (p.Pro569Ser) c.691C>T (p.Pro231Ser) c.415C>T (p.Pro139Ser) c.331C>T (p.Pro111Ser) | |
4 | g.660487dup | CA549125566 | PDE6B | c.1488dup (p.Thr497HisfsTer4) c.651dup (p.Thr218HisfsTer4) c.1707dup (p.Thr570HisfsTer4) c.693dup (p.Thr232HisfsTer4) c.417dup (p.Thr140HisfsTer4) c.333dup (p.Thr112HisfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660487del | CA256719 | PDE6B | c.1488del (p.Thr497ProfsTer?) c.651del (p.Thr218ProfsTer?) c.1707del (p.Thr570ProfsTer?) c.693del (p.Thr232ProfsTer?) c.417del (p.Thr140ProfsTer?) c.333del (p.Thr112ProfsTer?) | ClinVar dbSNP gnomAD v4 |
4 | g.660485_660488delinsCCCA | CA1432855088 | PDE6B | c.1486_1489delinsCCCA (p.Pro496=) c.649_652delinsCCCA (p.Pro217=) c.1705_1708delinsCCCA (p.Pro569=) c.691_694delinsCCCA (p.Pro231=) c.415_418delinsCCCA (p.Pro139=) c.331_334delinsCCCA (p.Pro111=) | |
4 | g.660486C>A | CA355915780 | PDE6B | c.1487C>A (p.Pro496His) c.650C>A (p.Pro217His) c.1706C>A (p.Pro569His) c.692C>A (p.Pro231His) c.416C>A (p.Pro139His) c.332C>A (p.Pro111His) | |
4 | g.660486C>G | CA355915781 | PDE6B | c.1487C>G (p.Pro496Arg) c.650C>G (p.Pro217Arg) c.1706C>G (p.Pro569Arg) c.692C>G (p.Pro231Arg) c.416C>G (p.Pro139Arg) c.332C>G (p.Pro111Arg) | |
4 | g.660486C>T | CA355915783 | PDE6B | c.1487C>T (p.Pro496Leu) c.650C>T (p.Pro217Leu) c.1706C>T (p.Pro569Leu) c.692C>T (p.Pro231Leu) c.416C>T (p.Pro139Leu) c.332C>T (p.Pro111Leu) | |
4 | g.660490_660492del | CA658822823 | PDE6B | c.1491_1493del (p.Thr498del) c.654_656del (p.Thr219del) c.1710_1712del (p.Thr571del) c.696_698del (p.Thr233del) c.420_422del (p.Thr141del) c.336_338del (p.Thr113del) | ClinVar dbSNP gnomAD v4 |
4 | g.660487C>A | CA91087353 | PDE6B | c.1488C>A (p.Pro496=) c.651C>A (p.Pro217=) c.1707C>A (p.Pro569=) c.693C>A (p.Pro231=) c.417C>A (p.Pro139=) c.333C>A (p.Pro111=) | dbSNP |
4 | g.660487C= | CA1432855098 | PDE6B | c.1488C= (p.Pro496=) c.651C= (p.Pro217=) c.1707C= (p.Pro569=) c.693C= (p.Pro231=) c.417C= (p.Pro139=) c.333C= (p.Pro111=) | |
4 | g.660487C>G | CA437897670 | PDE6B | c.1488C>G (p.Pro496=) c.651C>G (p.Pro217=) c.1707C>G (p.Pro569=) c.693C>G (p.Pro231=) c.417C>G (p.Pro139=) c.333C>G (p.Pro111=) | |
4 | g.660487C>T | CA437897671 | PDE6B | c.1488C>T (p.Pro496=) c.651C>T (p.Pro217=) c.1707C>T (p.Pro569=) c.693C>T (p.Pro231=) c.417C>T (p.Pro139=) c.333C>T (p.Pro111=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660488A>C | CA355915786 | PDE6B | c.1489A>C (p.Thr497Pro) c.652A>C (p.Thr218Pro) c.1708A>C (p.Thr570Pro) c.694A>C (p.Thr232Pro) c.418A>C (p.Thr140Pro) c.334A>C (p.Thr112Pro) | |
4 | g.660488A>G | CA355915787 | PDE6B | c.1489A>G (p.Thr497Ala) c.652A>G (p.Thr218Ala) c.1708A>G (p.Thr570Ala) c.694A>G (p.Thr232Ala) c.418A>G (p.Thr140Ala) c.334A>G (p.Thr112Ala) | |
4 | g.660488A>T | CA355915789 | PDE6B | c.1489A>T (p.Thr497Ser) c.652A>T (p.Thr218Ser) c.1708A>T (p.Thr570Ser) c.694A>T (p.Thr232Ser) c.418A>T (p.Thr140Ser) c.334A>T (p.Thr112Ser) | |
4 | g.660489C>A | CA355915791 | PDE6B | c.1490C>A (p.Thr497Asn) c.653C>A (p.Thr218Asn) c.1709C>A (p.Thr570Asn) c.695C>A (p.Thr232Asn) c.419C>A (p.Thr140Asn) c.335C>A (p.Thr112Asn) | |
4 | g.660489C>G | CA355915793 | PDE6B | c.1490C>G (p.Thr497Ser) c.653C>G (p.Thr218Ser) c.1709C>G (p.Thr570Ser) c.695C>G (p.Thr232Ser) c.419C>G (p.Thr140Ser) c.335C>G (p.Thr112Ser) | COSMIC |
4 | g.660489C>T | CA355915795 | PDE6B | c.1490C>T (p.Thr497Ile) c.653C>T (p.Thr218Ile) c.1709C>T (p.Thr570Ile) c.695C>T (p.Thr232Ile) c.419C>T (p.Thr140Ile) c.335C>T (p.Thr112Ile) | COSMIC |
4 | g.660490C>A | CA437897673 | PDE6B | c.1491C>A (p.Thr497=) c.654C>A (p.Thr218=) c.1710C>A (p.Thr570=) c.696C>A (p.Thr232=) c.420C>A (p.Thr140=) c.336C>A (p.Thr112=) | |
4 | g.660490C= | CA1432855110 | PDE6B | c.1491C= (p.Thr497=) c.654C= (p.Thr218=) c.1710C= (p.Thr570=) c.696C= (p.Thr232=) c.420C= (p.Thr140=) c.336C= (p.Thr112=) | |
4 | g.660490C>G | CA437897674 | PDE6B | c.1491C>G (p.Thr497=) c.654C>G (p.Thr218=) c.1710C>G (p.Thr570=) c.696C>G (p.Thr232=) c.420C>G (p.Thr140=) c.336C>G (p.Thr112=) | |
4 | g.660490C>T | CA2794556 | PDE6B | c.1491C>T (p.Thr497=) c.654C>T (p.Thr218=) c.1710C>T (p.Thr570=) c.696C>T (p.Thr232=) c.420C>T (p.Thr140=) c.336C>T (p.Thr112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660491A= | CA1432855111 | PDE6B | c.1492A= (p.Thr498=) c.655A= (p.Thr219=) c.1711A= (p.Thr571=) c.697A= (p.Thr233=) c.421A= (p.Thr141=) c.337A= (p.Thr113=) | |
4 | g.660491A>C | CA355915801 | PDE6B | c.1492A>C (p.Thr498Pro) c.655A>C (p.Thr219Pro) c.1711A>C (p.Thr571Pro) c.697A>C (p.Thr233Pro) c.421A>C (p.Thr141Pro) c.337A>C (p.Thr113Pro) | |
4 | g.660491A>G | CA355915799 | PDE6B | c.1492A>G (p.Thr498Ala) c.655A>G (p.Thr219Ala) c.1711A>G (p.Thr571Ala) c.697A>G (p.Thr233Ala) c.421A>G (p.Thr141Ala) c.337A>G (p.Thr113Ala) | gnomAD v4 |
4 | g.660491A>T | CA2794557 | PDE6B | c.1492A>T (p.Thr498Ser) c.655A>T (p.Thr219Ser) c.1711A>T (p.Thr571Ser) c.697A>T (p.Thr233Ser) c.421A>T (p.Thr141Ser) c.337A>T (p.Thr113Ser) | dbSNP ExAC gnomAD v2 |
4 | g.660492C>A | CA355915802 | PDE6B | c.1493C>A (p.Thr498Lys) c.656C>A (p.Thr219Lys) c.1712C>A (p.Thr571Lys) c.698C>A (p.Thr233Lys) c.422C>A (p.Thr141Lys) c.338C>A (p.Thr113Lys) | |
4 | g.660492C= | CA1432855115 | PDE6B | c.1493C= (p.Thr498=) c.656C= (p.Thr219=) c.1712C= (p.Thr571=) c.698C= (p.Thr233=) c.422C= (p.Thr141=) c.338C= (p.Thr113=) | |
4 | g.660492C>G | CA2794558 | PDE6B | c.1493C>G (p.Thr498Arg) c.656C>G (p.Thr219Arg) c.1712C>G (p.Thr571Arg) c.698C>G (p.Thr233Arg) c.422C>G (p.Thr141Arg) c.338C>G (p.Thr113Arg) | dbSNP ExAC gnomAD v2 |
4 | g.660492C>T | CA2794559 | PDE6B | c.1493C>T (p.Thr498Ile) c.656C>T (p.Thr219Ile) c.1712C>T (p.Thr571Ile) c.698C>T (p.Thr233Ile) c.422C>T (p.Thr141Ile) c.338C>T (p.Thr113Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660493A= | CA1432855124 | PDE6B | c.1494A= (p.Thr498=) c.657A= (p.Thr219=) c.1713A= (p.Thr571=) c.699A= (p.Thr233=) c.423A= (p.Thr141=) c.339A= (p.Thr113=) | |
4 | g.660493A>C | CA437897676 | PDE6B | c.1494A>C (p.Thr498=) c.657A>C (p.Thr219=) c.1713A>C (p.Thr571=) c.699A>C (p.Thr233=) c.423A>C (p.Thr141=) c.339A>C (p.Thr113=) | |
4 | g.660493A>G | CA2794560 | PDE6B | c.1494A>G (p.Thr498=) c.657A>G (p.Thr219=) c.1713A>G (p.Thr571=) c.699A>G (p.Thr233=) c.423A>G (p.Thr141=) c.339A>G (p.Thr113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660493A>T | CA437897677 | PDE6B | c.1494A>T (p.Thr498=) c.657A>T (p.Thr219=) c.1713A>T (p.Thr571=) c.699A>T (p.Thr233=) c.423A>T (p.Thr141=) c.339A>T (p.Thr113=) | |
4 | g.660494T>A | CA355915806 | PDE6B | c.1495T>A (p.Phe499Ile) c.658T>A (p.Phe220Ile) c.1714T>A (p.Phe572Ile) c.700T>A (p.Phe234Ile) c.424T>A (p.Phe142Ile) c.340T>A (p.Phe114Ile) | |
4 | g.660494T>C | CA355915807 | PDE6B | c.1495T>C (p.Phe499Leu) c.658T>C (p.Phe220Leu) c.1714T>C (p.Phe572Leu) c.700T>C (p.Phe234Leu) c.424T>C (p.Phe142Leu) c.340T>C (p.Phe114Leu) | |
4 | g.660494T>G | CA355915809 | PDE6B | c.1495T>G (p.Phe499Val) c.658T>G (p.Phe220Val) c.1714T>G (p.Phe572Val) c.700T>G (p.Phe234Val) c.424T>G (p.Phe142Val) c.340T>G (p.Phe114Val) | |
4 | g.660495T>A | CA355915811 | PDE6B | c.1496T>A (p.Phe499Tyr) c.659T>A (p.Phe220Tyr) c.1715T>A (p.Phe572Tyr) c.701T>A (p.Phe234Tyr) c.425T>A (p.Phe142Tyr) c.341T>A (p.Phe114Tyr) | |
4 | g.660495T>C | CA355915814 | PDE6B | c.1496T>C (p.Phe499Ser) c.659T>C (p.Phe220Ser) c.1715T>C (p.Phe572Ser) c.701T>C (p.Phe234Ser) c.425T>C (p.Phe142Ser) c.341T>C (p.Phe114Ser) | |
4 | g.660495T>G | CA355915815 | PDE6B | c.1496T>G (p.Phe499Cys) c.659T>G (p.Phe220Cys) c.1715T>G (p.Phe572Cys) c.701T>G (p.Phe234Cys) c.425T>G (p.Phe142Cys) c.341T>G (p.Phe114Cys) | |
4 | g.660496T>A | CA355915817 | PDE6B | c.1497T>A (p.Phe499Leu) c.660T>A (p.Phe220Leu) c.1716T>A (p.Phe572Leu) c.702T>A (p.Phe234Leu) c.426T>A (p.Phe142Leu) c.342T>A (p.Phe114Leu) | |
4 | g.660496T>C | CA437897681 | PDE6B | c.1497T>C (p.Phe499=) c.660T>C (p.Phe220=) c.1716T>C (p.Phe572=) c.702T>C (p.Phe234=) c.426T>C (p.Phe142=) c.342T>C (p.Phe114=) | |
4 | g.660496T>G | CA2794561 | PDE6B | c.1497T>G (p.Phe499Leu) c.660T>G (p.Phe220Leu) c.1716T>G (p.Phe572Leu) c.702T>G (p.Phe234Leu) c.426T>G (p.Phe142Leu) c.342T>G (p.Phe114Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660496T= | CA1432855134 | PDE6B | c.1497T= (p.Phe499=) c.660T= (p.Phe220=) c.1716T= (p.Phe572=) c.702T= (p.Phe234=) c.426T= (p.Phe142=) c.342T= (p.Phe114=) | |
4 | g.660497G>A | CA355915821 | PDE6B | c.1498G>A (p.Asp500Asn) c.661G>A (p.Asp221Asn) c.1717G>A (p.Asp573Asn) c.703G>A (p.Asp235Asn) c.427G>A (p.Asp143Asn) c.343G>A (p.Asp115Asn) | |
4 | g.660497G>C | CA355915823 | PDE6B | c.1498G>C (p.Asp500His) c.661G>C (p.Asp221His) c.1717G>C (p.Asp573His) c.703G>C (p.Asp235His) c.427G>C (p.Asp143His) c.343G>C (p.Asp115His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.660497G= | CA1432855137 | PDE6B | c.1498G= (p.Asp500=) c.661G= (p.Asp221=) c.1717G= (p.Asp573=) c.703G= (p.Asp235=) c.427G= (p.Asp143=) c.343G= (p.Asp115=) | |
4 | g.660497G>T | CA355915820 | PDE6B | c.1498G>T (p.Asp500Tyr) c.661G>T (p.Asp221Tyr) c.1717G>T (p.Asp573Tyr) c.703G>T (p.Asp235Tyr) c.427G>T (p.Asp143Tyr) c.343G>T (p.Asp115Tyr) | ClinVar dbSNP |
4 | g.660498A= | CA1432855139 | PDE6B | c.1499A= (p.Asp500=) c.662A= (p.Asp221=) c.1718A= (p.Asp573=) c.704A= (p.Asp235=) c.428A= (p.Asp143=) c.344A= (p.Asp115=) | |
4 | g.660498A>C | CA355915825 | PDE6B | c.1499A>C (p.Asp500Ala) c.662A>C (p.Asp221Ala) c.1718A>C (p.Asp573Ala) c.704A>C (p.Asp235Ala) c.428A>C (p.Asp143Ala) c.344A>C (p.Asp115Ala) | |
4 | g.660498A>G | CA355915827 | PDE6B | c.1499A>G (p.Asp500Gly) c.662A>G (p.Asp221Gly) c.1718A>G (p.Asp573Gly) c.704A>G (p.Asp235Gly) c.428A>G (p.Asp143Gly) c.344A>G (p.Asp115Gly) | |
4 | g.660498A>T | CA2794562 | PDE6B | c.1499A>T (p.Asp500Val) c.662A>T (p.Asp221Val) c.1718A>T (p.Asp573Val) c.704A>T (p.Asp235Val) c.428A>T (p.Asp143Val) c.344A>T (p.Asp115Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660499C>A | CA355915830 | PDE6B | c.1500C>A (p.Asp500Glu) c.663C>A (p.Asp221Glu) c.1719C>A (p.Asp573Glu) c.705C>A (p.Asp235Glu) c.429C>A (p.Asp143Glu) c.345C>A (p.Asp115Glu) | gnomAD v4 |
4 | g.660499C>G | CA355915834 | PDE6B | c.1500C>G (p.Asp500Glu) c.663C>G (p.Asp221Glu) c.1719C>G (p.Asp573Glu) c.705C>G (p.Asp235Glu) c.429C>G (p.Asp143Glu) c.345C>G (p.Asp115Glu) | |
4 | g.660499C>T | CA437897683 | PDE6B | c.1500C>T (p.Asp500=) c.663C>T (p.Asp221=) c.1719C>T (p.Asp573=) c.705C>T (p.Asp235=) c.429C>T (p.Asp143=) c.345C>T (p.Asp115=) | |
4 | g.660500A= | CA1432855144 | PDE6B | c.1501A= (p.Ile501=) c.664A= (p.Ile222=) c.1720A= (p.Ile574=) c.706A= (p.Ile236=) c.430A= (p.Ile144=) c.346A= (p.Ile116=) | |
4 | g.660500A>C | CA355915840 | PDE6B | c.1501A>C (p.Ile501Leu) c.664A>C (p.Ile222Leu) c.1720A>C (p.Ile574Leu) c.706A>C (p.Ile236Leu) c.430A>C (p.Ile144Leu) c.346A>C (p.Ile116Leu) | dbSNP |
4 | g.660500A>G | CA2794563 | PDE6B | c.1501A>G (p.Ile501Val) c.664A>G (p.Ile222Val) c.1720A>G (p.Ile574Val) c.706A>G (p.Ile236Val) c.430A>G (p.Ile144Val) c.346A>G (p.Ile116Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660500A>T | CA355915838 | PDE6B | c.1501A>T (p.Ile501Phe) c.664A>T (p.Ile222Phe) c.1720A>T (p.Ile574Phe) c.706A>T (p.Ile236Phe) c.430A>T (p.Ile144Phe) c.346A>T (p.Ile116Phe) | |
4 | g.660501T>A | CA355915842 | PDE6B | c.1502T>A (p.Ile501Asn) c.665T>A (p.Ile222Asn) c.1721T>A (p.Ile574Asn) c.707T>A (p.Ile236Asn) c.431T>A (p.Ile144Asn) c.347T>A (p.Ile116Asn) | |
4 | g.660501T>C | CA355915844 | PDE6B | c.1502T>C (p.Ile501Thr) c.665T>C (p.Ile222Thr) c.1721T>C (p.Ile574Thr) c.707T>C (p.Ile236Thr) c.431T>C (p.Ile144Thr) c.347T>C (p.Ile116Thr) | dbSNP |
4 | g.660501T>G | CA355915845 | PDE6B | c.1502T>G (p.Ile501Ser) c.665T>G (p.Ile222Ser) c.1721T>G (p.Ile574Ser) c.707T>G (p.Ile236Ser) c.431T>G (p.Ile144Ser) c.347T>G (p.Ile116Ser) | |
4 | g.660501T= | CA1432855151 | PDE6B | c.1502T= (p.Ile501=) c.665T= (p.Ile222=) c.1721T= (p.Ile574=) c.707T= (p.Ile236=) c.431T= (p.Ile144=) c.347T= (p.Ile116=) | |
4 | g.660502C>A | CA437897687 | PDE6B | c.1503C>A (p.Ile501=) c.666C>A (p.Ile222=) c.1722C>A (p.Ile574=) c.708C>A (p.Ile236=) c.432C>A (p.Ile144=) c.348C>A (p.Ile116=) | |
4 | g.660502C= | CA1432855159 | PDE6B | c.1503C= (p.Ile501=) c.666C= (p.Ile222=) c.1722C= (p.Ile574=) c.708C= (p.Ile236=) c.432C= (p.Ile144=) c.348C= (p.Ile116=) | |
4 | g.660502C>G | CA355915848 | PDE6B | c.1503C>G (p.Ile501Met) c.666C>G (p.Ile222Met) c.1722C>G (p.Ile574Met) c.708C>G (p.Ile236Met) c.432C>G (p.Ile144Met) c.348C>G (p.Ile116Met) | |
4 | g.660502C>T | CA2794564 | PDE6B | c.1503C>T (p.Ile501=) c.666C>T (p.Ile222=) c.1722C>T (p.Ile574=) c.708C>T (p.Ile236=) c.432C>T (p.Ile144=) c.348C>T (p.Ile116=) | dbSNP ExAC gnomAD v2 |
4 | g.660503T>A | CA355915855 | PDE6B | c.1504T>A (p.Tyr502Asn) c.667T>A (p.Tyr223Asn) c.1723T>A (p.Tyr575Asn) c.709T>A (p.Tyr237Asn) c.433T>A (p.Tyr145Asn) c.349T>A (p.Tyr117Asn) | |
4 | g.660503T>C | CA355915854 | PDE6B | c.1504T>C (p.Tyr502His) c.667T>C (p.Tyr223His) c.1723T>C (p.Tyr575His) c.709T>C (p.Tyr237His) c.433T>C (p.Tyr145His) c.349T>C (p.Tyr117His) | |
4 | g.660503T>G | CA355915852 | PDE6B | c.1504T>G (p.Tyr502Asp) c.667T>G (p.Tyr223Asp) c.1723T>G (p.Tyr575Asp) c.709T>G (p.Tyr237Asp) c.433T>G (p.Tyr145Asp) c.349T>G (p.Tyr117Asp) | |
4 | g.660504A>C | CA355915857 | PDE6B | c.1505A>C (p.Tyr502Ser) c.668A>C (p.Tyr223Ser) c.1724A>C (p.Tyr575Ser) c.710A>C (p.Tyr237Ser) c.434A>C (p.Tyr145Ser) c.350A>C (p.Tyr117Ser) | |
4 | g.660504A>G | CA355915861 | PDE6B | c.1505A>G (p.Tyr502Cys) c.668A>G (p.Tyr223Cys) c.1724A>G (p.Tyr575Cys) c.710A>G (p.Tyr237Cys) c.434A>G (p.Tyr145Cys) c.350A>G (p.Tyr117Cys) | ClinVar dbSNP |
4 | g.660504A>T | CA355915859 | PDE6B | c.1505A>T (p.Tyr502Phe) c.668A>T (p.Tyr223Phe) c.1724A>T (p.Tyr575Phe) c.710A>T (p.Tyr237Phe) c.434A>T (p.Tyr145Phe) c.350A>T (p.Tyr117Phe) | gnomAD v4 |
4 | g.660505C>A | CA355915862 | PDE6B | c.1506C>A (p.Tyr502Ter) c.669C>A (p.Tyr223Ter) c.1725C>A (p.Tyr575Ter) c.711C>A (p.Tyr237Ter) c.435C>A (p.Tyr145Ter) c.351C>A (p.Tyr117Ter) | |
4 | g.660505C= | CA1432855166 | PDE6B | c.1506C= (p.Tyr502=) c.669C= (p.Tyr223=) c.1725C= (p.Tyr575=) c.711C= (p.Tyr237=) c.435C= (p.Tyr145=) c.351C= (p.Tyr117=) | |
4 | g.660505C>G | CA355915863 | PDE6B | c.1506C>G (p.Tyr502Ter) c.669C>G (p.Tyr223Ter) c.1725C>G (p.Tyr575Ter) c.711C>G (p.Tyr237Ter) c.435C>G (p.Tyr145Ter) c.351C>G (p.Tyr117Ter) | dbSNP gnomAD v4 |
4 | g.660505C>T | CA2794565 | PDE6B | c.1506C>T (p.Tyr502=) c.669C>T (p.Tyr223=) c.1725C>T (p.Tyr575=) c.711C>T (p.Tyr237=) c.435C>T (p.Tyr145=) c.351C>T (p.Tyr117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.660506G>A | CA2794566 | PDE6B | c.1507G>A (p.Glu503Lys) c.670G>A (p.Glu224Lys) c.1726G>A (p.Glu576Lys) c.712G>A (p.Glu238Lys) c.436G>A (p.Glu146Lys) c.352G>A (p.Glu118Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.660506G>C | CA355915883 | PDE6B | c.1507G>C (p.Glu503Gln) c.670G>C (p.Glu224Gln) c.1726G>C (p.Glu576Gln) c.712G>C (p.Glu238Gln) c.436G>C (p.Glu146Gln) c.352G>C (p.Glu118Gln) | ClinVar dbSNP |
4 | g.660506G= | CA1432855177 | PDE6B | c.1507G= (p.Glu503=) c.670G= (p.Glu224=) c.1726G= (p.Glu576=) c.712G= (p.Glu238=) c.436G= (p.Glu146=) c.352G= (p.Glu118=) | |
4 | g.660506G>T | CA355915886 | PDE6B | c.1507G>T (p.Glu503Ter) c.670G>T (p.Glu224Ter) c.1726G>T (p.Glu576Ter) c.712G>T (p.Glu238Ter) c.436G>T (p.Glu146Ter) c.352G>T (p.Glu118Ter) | |
4 | g.660507A>C | CA355915888 | PDE6B | c.1508A>C (p.Glu503Ala) c.671A>C (p.Glu224Ala) c.1727A>C (p.Glu576Ala) c.713A>C (p.Glu238Ala) c.437A>C (p.Glu146Ala) c.353A>C (p.Glu118Ala) | |
4 | g.660507A>G | CA355915890 | PDE6B | c.1508A>G (p.Glu503Gly) c.671A>G (p.Glu224Gly) c.1727A>G (p.Glu576Gly) c.713A>G (p.Glu238Gly) c.437A>G (p.Glu146Gly) c.353A>G (p.Glu118Gly) | |
4 | g.660507A>T | CA355915891 | PDE6B | c.1508A>T (p.Glu503Val) c.671A>T (p.Glu224Val) c.1727A>T (p.Glu576Val) c.713A>T (p.Glu238Val) c.437A>T (p.Glu146Val) c.353A>T (p.Glu118Val) | gnomAD v4 |
4 | g.660508A= | CA1432855186 | PDE6B | c.1509A= (p.Glu503=) c.672A= (p.Glu224=) c.1728A= (p.Glu576=) c.714A= (p.Glu238=) c.438A= (p.Glu146=) c.354A= (p.Glu118=) | |
4 | g.660508A>C | CA355915892 | PDE6B | c.1509A>C (p.Glu503Asp) c.672A>C (p.Glu224Asp) c.1728A>C (p.Glu576Asp) c.714A>C (p.Glu238Asp) c.438A>C (p.Glu146Asp) c.354A>C (p.Glu118Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660508A>G | CA437897691 | PDE6B | c.1509A>G (p.Glu503=) c.672A>G (p.Glu224=) c.1728A>G (p.Glu576=) c.714A>G (p.Glu238=) c.438A>G (p.Glu146=) c.354A>G (p.Glu118=) | |
4 | g.660508A>T | CA355915894 | PDE6B | c.1509A>T (p.Glu503Asp) c.672A>T (p.Glu224Asp) c.1728A>T (p.Glu576Asp) c.714A>T (p.Glu238Asp) c.438A>T (p.Glu146Asp) c.354A>T (p.Glu118Asp) | |
4 | g.660509T>A | CA355915897 | PDE6B | c.1510T>A (p.Phe504Ile) c.673T>A (p.Phe225Ile) c.1729T>A (p.Phe577Ile) c.715T>A (p.Phe239Ile) c.439T>A (p.Phe147Ile) c.355T>A (p.Phe119Ile) | |
4 | g.660509T>C | CA355915898 | PDE6B | c.1510T>C (p.Phe504Leu) c.673T>C (p.Phe225Leu) c.1729T>C (p.Phe577Leu) c.715T>C (p.Phe239Leu) c.439T>C (p.Phe147Leu) c.355T>C (p.Phe119Leu) | |
4 | g.660509T>G | CA355915901 | PDE6B | c.1510T>G (p.Phe504Val) c.673T>G (p.Phe225Val) c.1729T>G (p.Phe577Val) c.715T>G (p.Phe239Val) c.439T>G (p.Phe147Val) c.355T>G (p.Phe119Val) | |
4 | g.660510T>A | CA355915906 | PDE6B | c.1511T>A (p.Phe504Tyr) c.674T>A (p.Phe225Tyr) c.1730T>A (p.Phe577Tyr) c.716T>A (p.Phe239Tyr) c.440T>A (p.Phe147Tyr) c.356T>A (p.Phe119Tyr) | |
4 | g.660510T>C | CA355915903 | PDE6B | c.1511T>C (p.Phe504Ser) c.674T>C (p.Phe225Ser) c.1730T>C (p.Phe577Ser) c.716T>C (p.Phe239Ser) c.440T>C (p.Phe147Ser) c.356T>C (p.Phe119Ser) | |
4 | g.660510T>G | CA355915905 | PDE6B | c.1511T>G (p.Phe504Cys) c.674T>G (p.Phe225Cys) c.1730T>G (p.Phe577Cys) c.716T>G (p.Phe239Cys) c.440T>G (p.Phe147Cys) c.356T>G (p.Phe119Cys) | |
4 | g.660511C>A | CA355915909 | PDE6B | c.1512C>A (p.Phe504Leu) c.675C>A (p.Phe225Leu) c.1731C>A (p.Phe577Leu) c.717C>A (p.Phe239Leu) c.441C>A (p.Phe147Leu) c.357C>A (p.Phe119Leu) | |
4 | g.660511C= | CA1432855196 | PDE6B | c.1512C= (p.Phe504=) c.675C= (p.Phe225=) c.1731C= (p.Phe577=) c.717C= (p.Phe239=) c.441C= (p.Phe147=) c.357C= (p.Phe119=) | |
4 | g.660511C>G | CA355915912 | PDE6B | c.1512C>G (p.Phe504Leu) c.675C>G (p.Phe225Leu) c.1731C>G (p.Phe577Leu) c.717C>G (p.Phe239Leu) c.441C>G (p.Phe147Leu) c.357C>G (p.Phe119Leu) | dbSNP gnomAD v2 |
4 | g.660511C>T | CA437897693 | PDE6B | c.1512C>T (p.Phe504=) c.675C>T (p.Phe225=) c.1731C>T (p.Phe577=) c.717C>T (p.Phe239=) c.441C>T (p.Phe147=) c.357C>T (p.Phe119=) | COSMIC |
4 | g.660512C>A | CA355915915 | PDE6B | c.1513C>A (p.His505Asn) c.676C>A (p.His226Asn) c.1732C>A (p.His578Asn) c.718C>A (p.His240Asn) c.442C>A (p.His148Asn) c.358C>A (p.His120Asn) | |
4 | g.660512C= | CA1432855200 | PDE6B | c.1513C= (p.His505=) c.676C= (p.His226=) c.1732C= (p.His578=) c.718C= (p.His240=) c.442C= (p.His148=) c.358C= (p.His120=) | |
4 | g.660512C>G | CA355915918 | PDE6B | c.1513C>G (p.His505Asp) c.676C>G (p.His226Asp) c.1732C>G (p.His578Asp) c.718C>G (p.His240Asp) c.442C>G (p.His148Asp) c.358C>G (p.His120Asp) | |
4 | g.660512C>T | CA355915920 | PDE6B | c.1513C>T (p.His505Tyr) c.676C>T (p.His226Tyr) c.1732C>T (p.His578Tyr) c.718C>T (p.His240Tyr) c.442C>T (p.His148Tyr) c.358C>T (p.His120Tyr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660513A>C | CA355915923 | PDE6B | c.1514A>C (p.His505Pro) c.677A>C (p.His226Pro) c.1733A>C (p.His578Pro) c.719A>C (p.His240Pro) c.443A>C (p.His148Pro) c.359A>C (p.His120Pro) | ClinVar |
4 | g.660513A>G | CA355915924 | PDE6B | c.1514A>G (p.His505Arg) c.677A>G (p.His226Arg) c.1733A>G (p.His578Arg) c.719A>G (p.His240Arg) c.443A>G (p.His148Arg) c.359A>G (p.His120Arg) | |
4 | g.660513A>T | CA355915925 | PDE6B | c.1514A>T (p.His505Leu) c.677A>T (p.His226Leu) c.1733A>T (p.His578Leu) c.719A>T (p.His240Leu) c.443A>T (p.His148Leu) c.359A>T (p.His120Leu) | |
4 | g.660514C>A | CA355915926 | PDE6B | c.1515C>A (p.His505Gln) c.678C>A (p.His226Gln) c.1734C>A (p.His578Gln) c.720C>A (p.His240Gln) c.444C>A (p.His148Gln) c.360C>A (p.His120Gln) | |
4 | g.660514C>G | CA355915927 | PDE6B | c.1515C>G (p.His505Gln) c.678C>G (p.His226Gln) c.1734C>G (p.His578Gln) c.720C>G (p.His240Gln) c.444C>G (p.His148Gln) c.360C>G (p.His120Gln) | |
4 | g.660514C>T | CA437897695 | PDE6B | c.1515C>T (p.His505=) c.678C>T (p.His226=) c.1734C>T (p.His578=) c.720C>T (p.His240=) c.444C>T (p.His148=) c.360C>T (p.His120=) | |
4 | g.660515T>A | CA355915933 | PDE6B | c.1516T>A (p.Phe506Ile) c.679T>A (p.Phe227Ile) c.1735T>A (p.Phe579Ile) c.721T>A (p.Phe241Ile) c.445T>A (p.Phe149Ile) c.361T>A (p.Phe121Ile) | |
4 | g.660515T>C | CA355915934 | PDE6B | c.1516T>C (p.Phe506Leu) c.679T>C (p.Phe227Leu) c.1735T>C (p.Phe579Leu) c.721T>C (p.Phe241Leu) c.445T>C (p.Phe149Leu) c.361T>C (p.Phe121Leu) | dbSNP |
4 | g.660515T>G | CA355915929 | PDE6B | c.1516T>G (p.Phe506Val) c.679T>G (p.Phe227Val) c.1735T>G (p.Phe579Val) c.721T>G (p.Phe241Val) c.445T>G (p.Phe149Val) c.361T>G (p.Phe121Val) | |
4 | g.660515T= | CA1432855208 | PDE6B | c.1516T= (p.Phe506=) c.679T= (p.Phe227=) c.1735T= (p.Phe579=) c.721T= (p.Phe241=) c.445T= (p.Phe149=) c.361T= (p.Phe121=) | |
4 | g.660516T>A | CA355915935 | PDE6B | c.1517T>A (p.Phe506Tyr) c.680T>A (p.Phe227Tyr) c.1736T>A (p.Phe579Tyr) c.722T>A (p.Phe241Tyr) c.446T>A (p.Phe149Tyr) c.362T>A (p.Phe121Tyr) | |
4 | g.660516T>C | CA355915936 | PDE6B | c.1517T>C (p.Phe506Ser) c.680T>C (p.Phe227Ser) c.1736T>C (p.Phe579Ser) c.722T>C (p.Phe241Ser) c.446T>C (p.Phe149Ser) c.362T>C (p.Phe121Ser) | |
4 | g.660516T>G | CA355915937 | PDE6B | c.1517T>G (p.Phe506Cys) c.680T>G (p.Phe227Cys) c.1736T>G (p.Phe579Cys) c.722T>G (p.Phe241Cys) c.446T>G (p.Phe149Cys) c.362T>G (p.Phe121Cys) | |
4 | g.660517C>A | CA355915940 | PDE6B | c.1518C>A (p.Phe506Leu) c.681C>A (p.Phe227Leu) c.1737C>A (p.Phe579Leu) c.723C>A (p.Phe241Leu) c.447C>A (p.Phe149Leu) c.363C>A (p.Phe121Leu) | COSMIC |
4 | g.660517C= | CA1432855213 | PDE6B | c.1518C= (p.Phe506=) c.681C= (p.Phe227=) c.1737C= (p.Phe579=) c.723C= (p.Phe241=) c.447C= (p.Phe149=) c.363C= (p.Phe121=) | |
4 | g.660517C>G | CA355915943 | PDE6B | c.1518C>G (p.Phe506Leu) c.681C>G (p.Phe227Leu) c.1737C>G (p.Phe579Leu) c.723C>G (p.Phe241Leu) c.447C>G (p.Phe149Leu) c.363C>G (p.Phe121Leu) | |
4 | g.660517C>T | CA2794567 | PDE6B | c.1518C>T (p.Phe506=) c.681C>T (p.Phe227=) c.1737C>T (p.Phe579=) c.723C>T (p.Phe241=) c.447C>T (p.Phe149=) c.363C>T (p.Phe121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660518T>A | CA355915949 | PDE6B | c.1519T>A (p.Ser507Thr) c.682T>A (p.Ser228Thr) c.1738T>A (p.Ser580Thr) c.724T>A (p.Ser242Thr) c.448T>A (p.Ser150Thr) c.364T>A (p.Ser122Thr) | |
4 | g.660518T>C | CA355915951 | PDE6B | c.1519T>C (p.Ser507Pro) c.682T>C (p.Ser228Pro) c.1738T>C (p.Ser580Pro) c.724T>C (p.Ser242Pro) c.448T>C (p.Ser150Pro) c.364T>C (p.Ser122Pro) | gnomAD v4 |
4 | g.660518T>G | CA355915954 | PDE6B | c.1519T>G (p.Ser507Ala) c.682T>G (p.Ser228Ala) c.1738T>G (p.Ser580Ala) c.724T>G (p.Ser242Ala) c.448T>G (p.Ser150Ala) c.364T>G (p.Ser122Ala) | |
4 | g.660519C>A | CA355915967 | PDE6B | c.1520C>A (p.Ser507Tyr) c.683C>A (p.Ser228Tyr) c.1739C>A (p.Ser580Tyr) c.725C>A (p.Ser242Tyr) c.449C>A (p.Ser150Tyr) c.365C>A (p.Ser122Tyr) | |
4 | g.660519C>G | CA355915970 | PDE6B | c.1520C>G (p.Ser507Cys) c.683C>G (p.Ser228Cys) c.1739C>G (p.Ser580Cys) c.725C>G (p.Ser242Cys) c.449C>G (p.Ser150Cys) c.365C>G (p.Ser122Cys) | gnomAD v4 |
4 | g.660519C>T | CA355915972 | PDE6B | c.1520C>T (p.Ser507Phe) c.683C>T (p.Ser228Phe) c.1739C>T (p.Ser580Phe) c.725C>T (p.Ser242Phe) c.449C>T (p.Ser150Phe) c.365C>T (p.Ser122Phe) | gnomAD v4 |
4 | g.660520T>A | CA437897700 | PDE6B | c.1521T>A (p.Ser507=) c.684T>A (p.Ser228=) c.1740T>A (p.Ser580=) c.726T>A (p.Ser242=) c.450T>A (p.Ser150=) c.366T>A (p.Ser122=) | |
4 | g.660520T>C | CA437897701 | PDE6B | c.1521T>C (p.Ser507=) c.684T>C (p.Ser228=) c.1740T>C (p.Ser580=) c.726T>C (p.Ser242=) c.450T>C (p.Ser150=) c.366T>C (p.Ser122=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.660520T>G | CA437897702 | PDE6B | c.1521T>G (p.Ser507=) c.684T>G (p.Ser228=) c.1740T>G (p.Ser580=) c.726T>G (p.Ser242=) c.450T>G (p.Ser150=) c.366T>G (p.Ser122=) | |
4 | g.660520T= | CA1432855222 | PDE6B | c.1521T= (p.Ser507=) c.684T= (p.Ser228=) c.1740T= (p.Ser580=) c.726T= (p.Ser242=) c.450T= (p.Ser150=) c.366T= (p.Ser122=) | |
4 | g.660521G>A | CA355915987 | PDE6B | c.1522G>A (p.Asp508Asn) c.685G>A (p.Asp229Asn) c.1741G>A (p.Asp581Asn) c.727G>A (p.Asp243Asn) c.451G>A (p.Asp151Asn) c.367G>A (p.Asp123Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660521G>C | CA355915981 | PDE6B | c.1522G>C (p.Asp508His) c.685G>C (p.Asp229His) c.1741G>C (p.Asp581His) c.727G>C (p.Asp243His) c.451G>C (p.Asp151His) c.367G>C (p.Asp123His) | |
4 | g.660521G= | CA1432855224 | PDE6B | c.1522G= (p.Asp508=) c.685G= (p.Asp229=) c.1741G= (p.Asp581=) c.727G= (p.Asp243=) c.451G= (p.Asp151=) c.367G= (p.Asp123=) | |
4 | g.660521G>T | CA355915984 | PDE6B | c.1522G>T (p.Asp508Tyr) c.685G>T (p.Asp229Tyr) c.1741G>T (p.Asp581Tyr) c.727G>T (p.Asp243Tyr) c.451G>T (p.Asp151Tyr) c.367G>T (p.Asp123Tyr) | |
4 | g.660522A>C | CA355915991 | PDE6B | c.1523A>C (p.Asp508Ala) c.686A>C (p.Asp229Ala) c.1742A>C (p.Asp581Ala) c.728A>C (p.Asp243Ala) c.452A>C (p.Asp151Ala) c.368A>C (p.Asp123Ala) | |
4 | g.660522A>G | CA355915993 | PDE6B | c.1523A>G (p.Asp508Gly) c.686A>G (p.Asp229Gly) c.1742A>G (p.Asp581Gly) c.728A>G (p.Asp243Gly) c.452A>G (p.Asp151Gly) c.368A>G (p.Asp123Gly) | |
4 | g.660522A>T | CA355915995 | PDE6B | c.1523A>T (p.Asp508Val) c.686A>T (p.Asp229Val) c.1742A>T (p.Asp581Val) c.728A>T (p.Asp243Val) c.452A>T (p.Asp151Val) c.368A>T (p.Asp123Val) | |
4 | g.660523C>A | CA355916009 | PDE6B | c.1524C>A (p.Asp508Glu) c.687C>A (p.Asp229Glu) c.1743C>A (p.Asp581Glu) c.729C>A (p.Asp243Glu) c.453C>A (p.Asp151Glu) c.369C>A (p.Asp123Glu) | |
4 | g.660523C>G | CA355916012 | PDE6B | c.1524C>G (p.Asp508Glu) c.687C>G (p.Asp229Glu) c.1743C>G (p.Asp581Glu) c.729C>G (p.Asp243Glu) c.453C>G (p.Asp151Glu) c.369C>G (p.Asp123Glu) | gnomAD v4 |
4 | g.660523C>T | CA437897705 | PDE6B | c.1524C>T (p.Asp508=) c.687C>T (p.Asp229=) c.1743C>T (p.Asp581=) c.729C>T (p.Asp243=) c.453C>T (p.Asp151=) c.369C>T (p.Asp123=) | |
4 | g.660524C>A | CA355916014 | PDE6B | c.1525C>A (p.Leu509Met) c.688C>A (p.Leu230Met) c.1744C>A (p.Leu582Met) c.730C>A (p.Leu244Met) c.454C>A (p.Leu152Met) c.370C>A (p.Leu124Met) | gnomAD v4 |
4 | g.660524C= | CA1432855227 | PDE6B | c.1525C= (p.Leu509=) c.688C= (p.Leu230=) c.1744C= (p.Leu582=) c.730C= (p.Leu244=) c.454C= (p.Leu152=) c.370C= (p.Leu124=) | |
4 | g.660524C>G | CA355916017 | PDE6B | c.1525C>G (p.Leu509Val) c.688C>G (p.Leu230Val) c.1744C>G (p.Leu582Val) c.730C>G (p.Leu244Val) c.454C>G (p.Leu152Val) c.370C>G (p.Leu124Val) | gnomAD v4 |
4 | g.660524C>T | CA437897706 | PDE6B | c.1525C>T (p.Leu509=) c.688C>T (p.Leu230=) c.1744C>T (p.Leu582=) c.730C>T (p.Leu244=) c.454C>T (p.Leu152=) c.370C>T (p.Leu124=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660525T>A | CA355916020 | PDE6B | c.1526T>A (p.Leu509Gln) c.689T>A (p.Leu230Gln) c.1745T>A (p.Leu582Gln) c.731T>A (p.Leu244Gln) c.455T>A (p.Leu152Gln) c.371T>A (p.Leu124Gln) | ClinVar |
4 | g.660525T>C | CA355916021 | PDE6B | c.1526T>C (p.Leu509Pro) c.689T>C (p.Leu230Pro) c.1745T>C (p.Leu582Pro) c.731T>C (p.Leu244Pro) c.455T>C (p.Leu152Pro) c.371T>C (p.Leu124Pro) | |
4 | g.660525T>G | CA355916024 | PDE6B | c.1526T>G (p.Leu509Arg) c.689T>G (p.Leu230Arg) c.1745T>G (p.Leu582Arg) c.731T>G (p.Leu244Arg) c.455T>G (p.Leu152Arg) c.371T>G (p.Leu124Arg) | |
4 | g.660526G>A | CA437897707 | PDE6B | c.1527G>A (p.Leu509=) c.690G>A (p.Leu230=) c.1746G>A (p.Leu582=) c.732G>A (p.Leu244=) c.456G>A (p.Leu152=) c.372G>A (p.Leu124=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660526G>C | CA437897708 | PDE6B | c.1527G>C (p.Leu509=) c.690G>C (p.Leu230=) c.1746G>C (p.Leu582=) c.732G>C (p.Leu244=) c.456G>C (p.Leu152=) c.372G>C (p.Leu124=) | |
4 | g.660526G= | CA1432855231 | PDE6B | c.1527G= (p.Leu509=) c.690G= (p.Leu230=) c.1746G= (p.Leu582=) c.732G= (p.Leu244=) c.456G= (p.Leu152=) c.372G= (p.Leu124=) | |
4 | g.660526G>T | CA437897709 | PDE6B | c.1527G>T (p.Leu509=) c.690G>T (p.Leu230=) c.1746G>T (p.Leu582=) c.732G>T (p.Leu244=) c.456G>T (p.Leu152=) c.372G>T (p.Leu124=) | |
4 | g.660527G>A | CA355916027 | PDE6B | c.1528G>A (p.Glu510Lys) c.691G>A (p.Glu231Lys) c.1747G>A (p.Glu583Lys) c.733G>A (p.Glu245Lys) c.457G>A (p.Glu153Lys) c.373G>A (p.Glu125Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660527G>C | CA91087438 | PDE6B | c.1528G>C (p.Glu510Gln) c.691G>C (p.Glu231Gln) c.1747G>C (p.Glu583Gln) c.733G>C (p.Glu245Gln) c.457G>C (p.Glu153Gln) c.373G>C (p.Glu125Gln) | dbSNP gnomAD v4 |
4 | g.660527G= | CA1432855244 | PDE6B | c.1528G= (p.Glu510=) c.691G= (p.Glu231=) c.1747G= (p.Glu583=) c.733G= (p.Glu245=) c.457G= (p.Glu153=) c.373G= (p.Glu125=) | |
4 | g.660527G>T | CA355916032 | PDE6B | c.1528G>T (p.Glu510Ter) c.691G>T (p.Glu231Ter) c.1747G>T (p.Glu583Ter) c.733G>T (p.Glu245Ter) c.457G>T (p.Glu153Ter) c.373G>T (p.Glu125Ter) | COSMIC |