Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
4 | g.660528A= | CA1432855247 | PDE6B | c.1529A= (p.Glu510=) c.692A= (p.Glu231=) c.1748A= (p.Glu583=) c.734A= (p.Glu245=) c.458A= (p.Glu153=) c.374A= (p.Glu125=) | |
4 | g.660528A>C | CA355916043 | PDE6B | c.1529A>C (p.Glu510Ala) c.692A>C (p.Glu231Ala) c.1748A>C (p.Glu583Ala) c.734A>C (p.Glu245Ala) c.458A>C (p.Glu153Ala) c.374A>C (p.Glu125Ala) | |
4 | g.660528A>G | CA355916040 | PDE6B | c.1529A>G (p.Glu510Gly) c.692A>G (p.Glu231Gly) c.1748A>G (p.Glu583Gly) c.734A>G (p.Glu245Gly) c.458A>G (p.Glu153Gly) c.374A>G (p.Glu125Gly) | dbSNP |
4 | g.660528A>T | CA355916037 | PDE6B | c.1529A>T (p.Glu510Val) c.692A>T (p.Glu231Val) c.1748A>T (p.Glu583Val) c.734A>T (p.Glu245Val) c.458A>T (p.Glu153Val) c.374A>T (p.Glu125Val) | |
4 | g.660529G>A | CA437897711 | PDE6B | c.1530G>A (p.Glu510=) c.693G>A (p.Glu231=) c.1749G>A (p.Glu583=) c.735G>A (p.Glu245=) c.459G>A (p.Glu153=) c.375G>A (p.Glu125=) | |
4 | g.660529G>C | CA91087453 | PDE6B | c.1530G>C (p.Glu510Asp) c.693G>C (p.Glu231Asp) c.1749G>C (p.Glu583Asp) c.735G>C (p.Glu245Asp) c.459G>C (p.Glu153Asp) c.375G>C (p.Glu125Asp) | dbSNP |
4 | g.660529G= | CA1432855249 | PDE6B | c.1530G= (p.Glu510=) c.693G= (p.Glu231=) c.1749G= (p.Glu583=) c.735G= (p.Glu245=) c.459G= (p.Glu153=) c.375G= (p.Glu125=) | |
4 | g.660529G>T | CA355916046 | PDE6B | c.1530G>T (p.Glu510Asp) c.693G>T (p.Glu231Asp) c.1749G>T (p.Glu583Asp) c.735G>T (p.Glu245Asp) c.459G>T (p.Glu153Asp) c.375G>T (p.Glu125Asp) | |
4 | g.660530T>A | CA355916050 | PDE6B | c.1531T>A (p.Cys511Ser) c.694T>A (p.Cys232Ser) c.1750T>A (p.Cys584Ser) c.736T>A (p.Cys246Ser) c.460T>A (p.Cys154Ser) c.376T>A (p.Cys126Ser) | |
4 | g.660530T>C | CA355916053 | PDE6B | c.1531T>C (p.Cys511Arg) c.694T>C (p.Cys232Arg) c.1750T>C (p.Cys584Arg) c.736T>C (p.Cys246Arg) c.460T>C (p.Cys154Arg) c.376T>C (p.Cys126Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660530T>G | CA2794568 | PDE6B | c.1531T>G (p.Cys511Gly) c.694T>G (p.Cys232Gly) c.1750T>G (p.Cys584Gly) c.736T>G (p.Cys246Gly) c.460T>G (p.Cys154Gly) c.376T>G (p.Cys126Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660530T= | CA1432855254 | PDE6B | c.1531T= (p.Cys511=) c.694T= (p.Cys232=) c.1750T= (p.Cys584=) c.736T= (p.Cys246=) c.460T= (p.Cys154=) c.376T= (p.Cys126=) | |
4 | g.660531G>A | CA355916057 | PDE6B | c.1532G>A (p.Cys511Tyr) c.695G>A (p.Cys232Tyr) c.1751G>A (p.Cys584Tyr) c.737G>A (p.Cys246Tyr) c.461G>A (p.Cys154Tyr) c.377G>A (p.Cys126Tyr) | gnomAD v4 |
4 | g.660531G>C | CA355916059 | PDE6B | c.1532G>C (p.Cys511Ser) c.695G>C (p.Cys232Ser) c.1751G>C (p.Cys584Ser) c.737G>C (p.Cys246Ser) c.461G>C (p.Cys154Ser) c.377G>C (p.Cys126Ser) | |
4 | g.660531G>T | CA355916061 | PDE6B | c.1532G>T (p.Cys511Phe) c.695G>T (p.Cys232Phe) c.1751G>T (p.Cys584Phe) c.737G>T (p.Cys246Phe) c.461G>T (p.Cys154Phe) c.377G>T (p.Cys126Phe) | ClinVar gnomAD v4 |
4 | g.660532C>A | CA355916063 | PDE6B | c.1533C>A (p.Cys511Ter) c.696C>A (p.Cys232Ter) c.1752C>A (p.Cys584Ter) c.738C>A (p.Cys246Ter) c.462C>A (p.Cys154Ter) c.378C>A (p.Cys126Ter) | |
4 | g.660532C>G | CA355916066 | PDE6B | c.1533C>G (p.Cys511Trp) c.696C>G (p.Cys232Trp) c.1752C>G (p.Cys584Trp) c.738C>G (p.Cys246Trp) c.462C>G (p.Cys154Trp) c.378C>G (p.Cys126Trp) | |
4 | g.660532C>T | CA437897713 | PDE6B | c.1533C>T (p.Cys511=) c.696C>T (p.Cys232=) c.1752C>T (p.Cys584=) c.738C>T (p.Cys246=) c.462C>T (p.Cys154=) c.378C>T (p.Cys126=) | |
4 | g.660533A= | CA1432855261 | PDE6B | c.1534A= (p.Thr512=) c.697A= (p.Thr233=) c.1753A= (p.Thr585=) c.739A= (p.Thr247=) c.463A= (p.Thr155=) c.379A= (p.Thr127=) | |
4 | g.660533A>C | CA355916068 | PDE6B | c.1534A>C (p.Thr512Pro) c.697A>C (p.Thr233Pro) c.1753A>C (p.Thr585Pro) c.739A>C (p.Thr247Pro) c.463A>C (p.Thr155Pro) c.379A>C (p.Thr127Pro) | |
4 | g.660533A>G | CA355916070 | PDE6B | c.1534A>G (p.Thr512Ala) c.697A>G (p.Thr233Ala) c.1753A>G (p.Thr585Ala) c.739A>G (p.Thr247Ala) c.463A>G (p.Thr155Ala) c.379A>G (p.Thr127Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660533A>T | CA355916073 | PDE6B | c.1534A>T (p.Thr512Ser) c.697A>T (p.Thr233Ser) c.1753A>T (p.Thr585Ser) c.739A>T (p.Thr247Ser) c.463A>T (p.Thr155Ser) c.379A>T (p.Thr127Ser) | |
4 | g.660534C>A | CA355916082 | PDE6B | c.1535C>A (p.Thr512Asn) c.698C>A (p.Thr233Asn) c.1754C>A (p.Thr585Asn) c.740C>A (p.Thr247Asn) c.464C>A (p.Thr155Asn) c.380C>A (p.Thr127Asn) | |
4 | g.660534C= | CA1432855264 | PDE6B | c.1535C= (p.Thr512=) c.698C= (p.Thr233=) c.1754C= (p.Thr585=) c.740C= (p.Thr247=) c.464C= (p.Thr155=) c.380C= (p.Thr127=) | |
4 | g.660534C>G | CA355916079 | PDE6B | c.1535C>G (p.Thr512Ser) c.698C>G (p.Thr233Ser) c.1754C>G (p.Thr585Ser) c.740C>G (p.Thr247Ser) c.464C>G (p.Thr155Ser) c.380C>G (p.Thr127Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660534C>T | CA355916076 | PDE6B | c.1535C>T (p.Thr512Ile) c.698C>T (p.Thr233Ile) c.1754C>T (p.Thr585Ile) c.740C>T (p.Thr247Ile) c.464C>T (p.Thr155Ile) c.380C>T (p.Thr127Ile) | |
4 | g.660535C>A | CA437897716 | PDE6B | c.1536C>A (p.Thr512=) c.699C>A (p.Thr233=) c.1755C>A (p.Thr585=) c.741C>A (p.Thr247=) c.465C>A (p.Thr155=) c.381C>A (p.Thr127=) | |
4 | g.660535C= | CA1432855267 | PDE6B | c.1536C= (p.Thr512=) c.699C= (p.Thr233=) c.1755C= (p.Thr585=) c.741C= (p.Thr247=) c.465C= (p.Thr155=) c.381C= (p.Thr127=) | |
4 | g.660535C>G | CA437897715 | PDE6B | c.1536C>G (p.Thr512=) c.699C>G (p.Thr233=) c.1755C>G (p.Thr585=) c.741C>G (p.Thr247=) c.465C>G (p.Thr155=) c.381C>G (p.Thr127=) | gnomAD v4 |
4 | g.660535C>T | CA437897714 | PDE6B | c.1536C>T (p.Thr512=) c.699C>T (p.Thr233=) c.1755C>T (p.Thr585=) c.741C>T (p.Thr247=) c.465C>T (p.Thr155=) c.381C>T (p.Thr127=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.660536G>A | CA91087472 | PDE6B | c.1537G>A (p.Glu513Lys) c.700G>A (p.Glu234Lys) c.1756G>A (p.Glu586Lys) c.742G>A (p.Glu248Lys) c.466G>A (p.Glu156Lys) c.382G>A (p.Glu128Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
4 | g.660536G>C | CA2794569 | PDE6B | c.1537G>C (p.Glu513Gln) c.700G>C (p.Glu234Gln) c.1756G>C (p.Glu586Gln) c.742G>C (p.Glu248Gln) c.466G>C (p.Glu156Gln) c.382G>C (p.Glu128Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660536G= | CA1432855272 | PDE6B | c.1537G= (p.Glu513=) c.700G= (p.Glu234=) c.1756G= (p.Glu586=) c.742G= (p.Glu248=) c.466G= (p.Glu156=) c.382G= (p.Glu128=) | |
4 | g.660536G>T | CA355916089 | PDE6B | c.1537G>T (p.Glu513Ter) c.700G>T (p.Glu234Ter) c.1756G>T (p.Glu586Ter) c.742G>T (p.Glu248Ter) c.466G>T (p.Glu156Ter) c.382G>T (p.Glu128Ter) | |
4 | g.660537A= | CA1432855279 | PDE6B | c.1538A= (p.Glu513=) c.701A= (p.Glu234=) c.1757A= (p.Glu586=) c.743A= (p.Glu248=) c.467A= (p.Glu156=) c.383A= (p.Glu128=) | |
4 | g.660537A>C | CA355916093 | PDE6B | c.1538A>C (p.Glu513Ala) c.701A>C (p.Glu234Ala) c.1757A>C (p.Glu586Ala) c.743A>C (p.Glu248Ala) c.467A>C (p.Glu156Ala) c.383A>C (p.Glu128Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.660537A>G | CA355916095 | PDE6B | c.1538A>G (p.Glu513Gly) c.701A>G (p.Glu234Gly) c.1757A>G (p.Glu586Gly) c.743A>G (p.Glu248Gly) c.467A>G (p.Glu156Gly) c.383A>G (p.Glu128Gly) | |
4 | g.660537A>T | CA355916097 | PDE6B | c.1538A>T (p.Glu513Val) c.701A>T (p.Glu234Val) c.1757A>T (p.Glu586Val) c.743A>T (p.Glu248Val) c.467A>T (p.Glu156Val) c.383A>T (p.Glu128Val) | |
4 | g.660538A>C | CA355916099 | PDE6B | c.1539A>C (p.Glu513Asp) c.702A>C (p.Glu234Asp) c.1758A>C (p.Glu586Asp) c.744A>C (p.Glu248Asp) c.468A>C (p.Glu156Asp) c.384A>C (p.Glu128Asp) | |
4 | g.660538A>G | CA437897718 | PDE6B | c.1539A>G (p.Glu513=) c.702A>G (p.Glu234=) c.1758A>G (p.Glu586=) c.744A>G (p.Glu248=) c.468A>G (p.Glu156=) c.384A>G (p.Glu128=) | |
4 | g.660538A>T | CA355916100 | PDE6B | c.1539A>T (p.Glu513Asp) c.702A>T (p.Glu234Asp) c.1758A>T (p.Glu586Asp) c.744A>T (p.Glu248Asp) c.468A>T (p.Glu156Asp) c.384A>T (p.Glu128Asp) | |
4 | g.660538_660539delinsAC | CA1432855281 | PDE6B | c.1539_1540delinsAC (p.Glu513=) c.702_703delinsAC (p.Glu234=) c.1758_1759delinsAC (p.Glu586=) c.744_745delinsAC (p.Glu248=) c.468_469delinsAC (p.Glu156=) c.384_385delinsAC (p.Glu128=) | |
4 | g.660539del | CA220604 | PDE6B | c.1540del (p.Leu514TrpfsTer?) c.703del (p.Leu235TrpfsTer?) c.1759del (p.Leu587TrpfsTer?) c.745del (p.Leu249TrpfsTer?) c.469del (p.Leu157TrpfsTer?) c.385del (p.Leu129TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660539C>A | CA355916101 | PDE6B | c.1540C>A (p.Leu514Met) c.703C>A (p.Leu235Met) c.1759C>A (p.Leu587Met) c.745C>A (p.Leu249Met) c.469C>A (p.Leu157Met) c.385C>A (p.Leu129Met) | |
4 | g.660539C= | CA1432855291 | PDE6B | c.1540C= (p.Leu514=) c.703C= (p.Leu235=) c.1759C= (p.Leu587=) c.745C= (p.Leu249=) c.469C= (p.Leu157=) c.385C= (p.Leu129=) | |
4 | g.660539C>G | CA2794571 | PDE6B | c.1540C>G (p.Leu514Val) c.703C>G (p.Leu235Val) c.1759C>G (p.Leu587Val) c.745C>G (p.Leu249Val) c.469C>G (p.Leu157Val) c.385C>G (p.Leu129Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660539C>T | CA2794570 | PDE6B | c.1540C>T (p.Leu514=) c.703C>T (p.Leu235=) c.1759C>T (p.Leu587=) c.745C>T (p.Leu249=) c.469C>T (p.Leu157=) c.385C>T (p.Leu129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660540del | CA355916105 | PDE6B | c.1541del (p.Leu514ArgfsTer?) c.704del (p.Leu235ArgfsTer?) c.1760del (p.Leu587ArgfsTer?) c.746del (p.Leu249ArgfsTer?) c.470del (p.Leu157ArgfsTer?) c.386del (p.Leu129ArgfsTer?) | |
4 | g.660540T>A | CA355916109 | PDE6B | c.1541T>A (p.Leu514Gln) c.704T>A (p.Leu235Gln) c.1760T>A (p.Leu587Gln) c.746T>A (p.Leu249Gln) c.470T>A (p.Leu157Gln) c.386T>A (p.Leu129Gln) | |
4 | g.660540T>C | CA355916111 | PDE6B | c.1541T>C (p.Leu514Pro) c.704T>C (p.Leu235Pro) c.1760T>C (p.Leu587Pro) c.746T>C (p.Leu249Pro) c.470T>C (p.Leu157Pro) c.386T>C (p.Leu129Pro) | ClinVar dbSNP |
4 | g.660540T>G | CA2794572 | PDE6B | c.1541T>G (p.Leu514Arg) c.704T>G (p.Leu235Arg) c.1760T>G (p.Leu587Arg) c.746T>G (p.Leu249Arg) c.470T>G (p.Leu157Arg) c.386T>G (p.Leu129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660540T= | CA1432855295 | PDE6B | c.1541T= (p.Leu514=) c.704T= (p.Leu235=) c.1760T= (p.Leu587=) c.746T= (p.Leu249=) c.470T= (p.Leu157=) c.386T= (p.Leu129=) | |
4 | g.660541G>A | CA437897725 | PDE6B | c.1542G>A (p.Leu514=) c.705G>A (p.Leu235=) c.1761G>A (p.Leu587=) c.747G>A (p.Leu249=) c.471G>A (p.Leu157=) c.387G>A (p.Leu129=) | dbSNP |
4 | g.660541G>C | CA437897723 | PDE6B | c.1542G>C (p.Leu514=) c.705G>C (p.Leu235=) c.1761G>C (p.Leu587=) c.747G>C (p.Leu249=) c.471G>C (p.Leu157=) c.387G>C (p.Leu129=) | |
4 | g.660541G= | CA1432855299 | PDE6B | c.1542G= (p.Leu514=) c.705G= (p.Leu235=) c.1761G= (p.Leu587=) c.747G= (p.Leu249=) c.471G= (p.Leu157=) c.387G= (p.Leu129=) | |
4 | g.660541G>T | CA437897724 | PDE6B | c.1542G>T (p.Leu514=) c.705G>T (p.Leu235=) c.1761G>T (p.Leu587=) c.747G>T (p.Leu249=) c.471G>T (p.Leu157=) c.387G>T (p.Leu129=) | |
4 | g.660542G>A | CA355916114 | PDE6B | c.1543G>A (p.Asp515Asn) c.706G>A (p.Asp236Asn) c.1762G>A (p.Asp588Asn) c.748G>A (p.Asp250Asn) c.472G>A (p.Asp158Asn) c.388G>A (p.Asp130Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660542G>C | CA355916117 | PDE6B | c.1543G>C (p.Asp515His) c.706G>C (p.Asp236His) c.1762G>C (p.Asp588His) c.748G>C (p.Asp250His) c.472G>C (p.Asp158His) c.388G>C (p.Asp130His) | |
4 | g.660542G= | CA1432855300 | PDE6B | c.1543G= (p.Asp515=) c.706G= (p.Asp236=) c.1762G= (p.Asp588=) c.748G= (p.Asp250=) c.472G= (p.Asp158=) c.388G= (p.Asp130=) | |
4 | g.660542G>T | CA355916119 | PDE6B | c.1543G>T (p.Asp515Tyr) c.706G>T (p.Asp236Tyr) c.1762G>T (p.Asp588Tyr) c.748G>T (p.Asp250Tyr) c.472G>T (p.Asp158Tyr) c.388G>T (p.Asp130Tyr) | dbSNP gnomAD v2 |
4 | g.660543A>C | CA355916123 | PDE6B | c.1544A>C (p.Asp515Ala) c.707A>C (p.Asp236Ala) c.1763A>C (p.Asp588Ala) c.749A>C (p.Asp250Ala) c.473A>C (p.Asp158Ala) c.389A>C (p.Asp130Ala) | |
4 | g.660543A>G | CA355916127 | PDE6B | c.1544A>G (p.Asp515Gly) c.707A>G (p.Asp236Gly) c.1763A>G (p.Asp588Gly) c.749A>G (p.Asp250Gly) c.473A>G (p.Asp158Gly) c.389A>G (p.Asp130Gly) | |
4 | g.660543A>T | CA355916128 | PDE6B | c.1544A>T (p.Asp515Val) c.707A>T (p.Asp236Val) c.1763A>T (p.Asp588Val) c.749A>T (p.Asp250Val) c.473A>T (p.Asp158Val) c.389A>T (p.Asp130Val) | |
4 | g.660544C>A | CA355916130 | PDE6B | c.1545C>A (p.Asp515Glu) c.708C>A (p.Asp236Glu) c.1764C>A (p.Asp588Glu) c.750C>A (p.Asp250Glu) c.474C>A (p.Asp158Glu) c.390C>A (p.Asp130Glu) | |
4 | g.660544C>G | CA355916134 | PDE6B | c.1545C>G (p.Asp515Glu) c.708C>G (p.Asp236Glu) c.1764C>G (p.Asp588Glu) c.750C>G (p.Asp250Glu) c.474C>G (p.Asp158Glu) c.390C>G (p.Asp130Glu) | |
4 | g.660544C>T | CA437897727 | PDE6B | c.1545C>T (p.Asp515=) c.708C>T (p.Asp236=) c.1764C>T (p.Asp588=) c.750C>T (p.Asp250=) c.474C>T (p.Asp158=) c.390C>T (p.Asp130=) | |
4 | g.660545C>A | CA355916136 | PDE6B | c.1546C>A (p.Leu516Met) c.709C>A (p.Leu237Met) c.1765C>A (p.Leu589Met) c.751C>A (p.Leu251Met) c.475C>A (p.Leu159Met) c.391C>A (p.Leu131Met) | |
4 | g.660545C>G | CA355916139 | PDE6B | c.1546C>G (p.Leu516Val) c.709C>G (p.Leu237Val) c.1765C>G (p.Leu589Val) c.751C>G (p.Leu251Val) c.475C>G (p.Leu159Val) c.391C>G (p.Leu131Val) | |
4 | g.660545C>T | CA437897728 | PDE6B | c.1546C>T (p.Leu516=) c.709C>T (p.Leu237=) c.1765C>T (p.Leu589=) c.751C>T (p.Leu251=) c.475C>T (p.Leu159=) c.391C>T (p.Leu131=) | |
4 | g.660546T>A | CA355916143 | PDE6B | c.1547T>A (p.Leu516Gln) c.710T>A (p.Leu237Gln) c.1766T>A (p.Leu589Gln) c.752T>A (p.Leu251Gln) c.476T>A (p.Leu159Gln) c.392T>A (p.Leu131Gln) | |
4 | g.660546T>C | CA355916145 | PDE6B | c.1547T>C (p.Leu516Pro) c.710T>C (p.Leu237Pro) c.1766T>C (p.Leu589Pro) c.752T>C (p.Leu251Pro) c.476T>C (p.Leu159Pro) c.392T>C (p.Leu131Pro) | ClinVar dbSNP gnomAD v4 |
4 | g.660546T>G | CA355916149 | PDE6B | c.1547T>G (p.Leu516Arg) c.710T>G (p.Leu237Arg) c.1766T>G (p.Leu589Arg) c.752T>G (p.Leu251Arg) c.476T>G (p.Leu159Arg) c.392T>G (p.Leu131Arg) | |
4 | g.660546T= | CA1432855306 | PDE6B | c.1547T= (p.Leu516=) c.710T= (p.Leu237=) c.1766T= (p.Leu589=) c.752T= (p.Leu251=) c.476T= (p.Leu159=) c.392T= (p.Leu131=) | |
4 | g.660547G>A | CA437897729 | PDE6B | c.1548G>A (p.Leu516=) c.711G>A (p.Leu237=) c.1767G>A (p.Leu589=) c.753G>A (p.Leu251=) c.477G>A (p.Leu159=) c.393G>A (p.Leu131=) | gnomAD v4 |
4 | g.660547G>C | CA437897732 | PDE6B | c.1548G>C (p.Leu516=) c.711G>C (p.Leu237=) c.1767G>C (p.Leu589=) c.753G>C (p.Leu251=) c.477G>C (p.Leu159=) c.393G>C (p.Leu131=) | |
4 | g.660547G>T | CA437897730 | PDE6B | c.1548G>T (p.Leu516=) c.711G>T (p.Leu237=) c.1767G>T (p.Leu589=) c.753G>T (p.Leu251=) c.477G>T (p.Leu159=) c.393G>T (p.Leu131=) | |
4 | g.660548G>A | CA91087497 | PDE6B | c.1549G>A (p.Val517Ile) c.712G>A (p.Val238Ile) c.1768G>A (p.Val590Ile) c.754G>A (p.Val252Ile) c.478G>A (p.Val160Ile) c.394G>A (p.Val132Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660548G>C | CA355916154 | PDE6B | c.1549G>C (p.Val517Leu) c.712G>C (p.Val238Leu) c.1768G>C (p.Val590Leu) c.754G>C (p.Val252Leu) c.478G>C (p.Val160Leu) c.394G>C (p.Val132Leu) | |
4 | g.660548G= | CA1432855309 | PDE6B | c.1549G= (p.Val517=) c.712G= (p.Val238=) c.1768G= (p.Val590=) c.754G= (p.Val252=) c.478G= (p.Val160=) c.394G= (p.Val132=) | |
4 | g.660548G>T | CA355916152 | PDE6B | c.1549G>T (p.Val517Phe) c.712G>T (p.Val238Phe) c.1768G>T (p.Val590Phe) c.754G>T (p.Val252Phe) c.478G>T (p.Val160Phe) c.394G>T (p.Val132Phe) | |
4 | g.660549T>A | CA355916159 | PDE6B | c.1550T>A (p.Val517Asp) c.713T>A (p.Val238Asp) c.1769T>A (p.Val590Asp) c.755T>A (p.Val252Asp) c.479T>A (p.Val160Asp) c.395T>A (p.Val132Asp) | |
4 | g.660549T>C | CA355916161 | PDE6B | c.1550T>C (p.Val517Ala) c.713T>C (p.Val238Ala) c.1769T>C (p.Val590Ala) c.755T>C (p.Val252Ala) c.479T>C (p.Val160Ala) c.395T>C (p.Val132Ala) | |
4 | g.660549T>G | CA355916164 | PDE6B | c.1550T>G (p.Val517Gly) c.713T>G (p.Val238Gly) c.1769T>G (p.Val590Gly) c.755T>G (p.Val252Gly) c.479T>G (p.Val160Gly) c.395T>G (p.Val132Gly) | |
4 | g.660550C>A | CA437897733 | PDE6B | c.1551C>A (p.Val517=) c.714C>A (p.Val238=) c.1770C>A (p.Val590=) c.756C>A (p.Val252=) c.480C>A (p.Val160=) c.396C>A (p.Val132=) | |
4 | g.660550C= | CA1432855314 | PDE6B | c.1551C= (p.Val517=) c.714C= (p.Val238=) c.1770C= (p.Val590=) c.756C= (p.Val252=) c.480C= (p.Val160=) c.396C= (p.Val132=) | |
4 | g.660550C>G | CA437897734 | PDE6B | c.1551C>G (p.Val517=) c.714C>G (p.Val238=) c.1770C>G (p.Val590=) c.756C>G (p.Val252=) c.480C>G (p.Val160=) c.396C>G (p.Val132=) | dbSNP |
4 | g.660550C>T | CA437897735 | PDE6B | c.1551C>T (p.Val517=) c.714C>T (p.Val238=) c.1770C>T (p.Val590=) c.756C>T (p.Val252=) c.480C>T (p.Val160=) c.396C>T (p.Val132=) | |
4 | g.660551A>C | CA355916167 | PDE6B | c.1552A>C (p.Lys518Gln) c.715A>C (p.Lys239Gln) c.1771A>C (p.Lys591Gln) c.757A>C (p.Lys253Gln) c.481A>C (p.Lys161Gln) c.397A>C (p.Lys133Gln) | |
4 | g.660551A>G | CA355916170 | PDE6B | c.1552A>G (p.Lys518Glu) c.715A>G (p.Lys239Glu) c.1771A>G (p.Lys591Glu) c.757A>G (p.Lys253Glu) c.481A>G (p.Lys161Glu) c.397A>G (p.Lys133Glu) | |
4 | g.660551A>T | CA355916172 | PDE6B | c.1552A>T (p.Lys518Ter) c.715A>T (p.Lys239Ter) c.1771A>T (p.Lys591Ter) c.757A>T (p.Lys253Ter) c.481A>T (p.Lys161Ter) c.397A>T (p.Lys133Ter) | gnomAD v4 |
4 | g.660552A= | CA1432855322 | PDE6B | c.1553A= (p.Lys518=) c.716A= (p.Lys239=) c.1772A= (p.Lys591=) c.758A= (p.Lys253=) c.482A= (p.Lys161=) c.398A= (p.Lys133=) | |
4 | g.660552A>C | CA355916176 | PDE6B | c.1553A>C (p.Lys518Thr) c.716A>C (p.Lys239Thr) c.1772A>C (p.Lys591Thr) c.758A>C (p.Lys253Thr) c.482A>C (p.Lys161Thr) c.398A>C (p.Lys133Thr) | gnomAD v4 |
4 | g.660552A>G | CA355916178 | PDE6B | c.1553A>G (p.Lys518Arg) c.716A>G (p.Lys239Arg) c.1772A>G (p.Lys591Arg) c.758A>G (p.Lys253Arg) c.482A>G (p.Lys161Arg) c.398A>G (p.Lys133Arg) | |
4 | g.660552A>T | CA2794573 | PDE6B | c.1553A>T (p.Lys518Ile) c.716A>T (p.Lys239Ile) c.1772A>T (p.Lys591Ile) c.758A>T (p.Lys253Ile) c.482A>T (p.Lys161Ile) c.398A>T (p.Lys133Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660553A>C | CA355916182 | PDE6B | c.1554A>C (p.Lys518Asn) c.717A>C (p.Lys239Asn) c.1773A>C (p.Lys591Asn) c.759A>C (p.Lys253Asn) c.483A>C (p.Lys161Asn) c.399A>C (p.Lys133Asn) | |
4 | g.660553A>G | CA437897737 | PDE6B | c.1554A>G (p.Lys518=) c.717A>G (p.Lys239=) c.1773A>G (p.Lys591=) c.759A>G (p.Lys253=) c.483A>G (p.Lys161=) c.399A>G (p.Lys133=) | |
4 | g.660553A>T | CA355916184 | PDE6B | c.1554A>T (p.Lys518Asn) c.717A>T (p.Lys239Asn) c.1773A>T (p.Lys591Asn) c.759A>T (p.Lys253Asn) c.483A>T (p.Lys161Asn) c.399A>T (p.Lys133Asn) | |
4 | g.660554T>A | CA355916187 | PDE6B | c.1555T>A (p.Cys519Ser) c.718T>A (p.Cys240Ser) c.1774T>A (p.Cys592Ser) c.760T>A (p.Cys254Ser) c.484T>A (p.Cys162Ser) c.400T>A (p.Cys134Ser) | |
4 | g.660554T>C | CA355916189 | PDE6B | c.1555T>C (p.Cys519Arg) c.718T>C (p.Cys240Arg) c.1774T>C (p.Cys592Arg) c.760T>C (p.Cys254Arg) c.484T>C (p.Cys162Arg) c.400T>C (p.Cys134Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660554T>G | CA355916190 | PDE6B | c.1555T>G (p.Cys519Gly) c.718T>G (p.Cys240Gly) c.1774T>G (p.Cys592Gly) c.760T>G (p.Cys254Gly) c.484T>G (p.Cys162Gly) c.400T>G (p.Cys134Gly) | |
4 | g.660554T= | CA1432855326 | PDE6B | c.1555T= (p.Cys519=) c.718T= (p.Cys240=) c.1774T= (p.Cys592=) c.760T= (p.Cys254=) c.484T= (p.Cys162=) c.400T= (p.Cys134=) | |
4 | g.660555G>A | CA355916198 | PDE6B | c.1556G>A (p.Cys519Tyr) c.719G>A (p.Cys240Tyr) c.1775G>A (p.Cys592Tyr) c.761G>A (p.Cys254Tyr) c.485G>A (p.Cys162Tyr) c.401G>A (p.Cys134Tyr) | gnomAD v4 |
4 | g.660555G>C | CA355916200 | PDE6B | c.1556G>C (p.Cys519Ser) c.719G>C (p.Cys240Ser) c.1775G>C (p.Cys592Ser) c.761G>C (p.Cys254Ser) c.485G>C (p.Cys162Ser) c.401G>C (p.Cys134Ser) | |
4 | g.660555G>T | CA355916196 | PDE6B | c.1556G>T (p.Cys519Phe) c.719G>T (p.Cys240Phe) c.1775G>T (p.Cys592Phe) c.761G>T (p.Cys254Phe) c.485G>T (p.Cys162Phe) c.401G>T (p.Cys134Phe) | |
4 | g.660556T>A | CA355916203 | PDE6B | c.1557T>A (p.Cys519Ter) c.720T>A (p.Cys240Ter) c.1776T>A (p.Cys592Ter) c.762T>A (p.Cys254Ter) c.486T>A (p.Cys162Ter) c.402T>A (p.Cys134Ter) | |
4 | g.660556T>C | CA437897738 | PDE6B | c.1557T>C (p.Cys519=) c.720T>C (p.Cys240=) c.1776T>C (p.Cys592=) c.762T>C (p.Cys254=) c.486T>C (p.Cys162=) c.402T>C (p.Cys134=) | gnomAD v4 |
4 | g.660556T>G | CA355916204 | PDE6B | c.1557T>G (p.Cys519Trp) c.720T>G (p.Cys240Trp) c.1776T>G (p.Cys592Trp) c.762T>G (p.Cys254Trp) c.486T>G (p.Cys162Trp) c.402T>G (p.Cys134Trp) | |
4 | g.660557G>A | CA355916207 | PDE6B | c.1558G>A (p.Gly520Ser) c.721G>A (p.Gly241Ser) c.1777G>A (p.Gly593Ser) c.763G>A (p.Gly255Ser) c.487G>A (p.Gly163Ser) c.403G>A (p.Gly135Ser) | |
4 | g.660557G>C | CA355916209 | PDE6B | c.1558G>C (p.Gly520Arg) c.721G>C (p.Gly241Arg) c.1777G>C (p.Gly593Arg) c.763G>C (p.Gly255Arg) c.487G>C (p.Gly163Arg) c.403G>C (p.Gly135Arg) | |
4 | g.660557G>T | CA355916212 | PDE6B | c.1558G>T (p.Gly520Cys) c.721G>T (p.Gly241Cys) c.1777G>T (p.Gly593Cys) c.763G>T (p.Gly255Cys) c.487G>T (p.Gly163Cys) c.403G>T (p.Gly135Cys) | |
4 | g.660558G>A | CA355916214 | PDE6B | c.1559G>A (p.Gly520Asp) c.722G>A (p.Gly241Asp) c.1778G>A (p.Gly593Asp) c.764G>A (p.Gly255Asp) c.488G>A (p.Gly163Asp) c.404G>A (p.Gly135Asp) | ClinVar |
4 | g.660558G>C | CA355916216 | PDE6B | c.1559G>C (p.Gly520Ala) c.722G>C (p.Gly241Ala) c.1778G>C (p.Gly593Ala) c.764G>C (p.Gly255Ala) c.488G>C (p.Gly163Ala) c.404G>C (p.Gly135Ala) | |
4 | g.660558G>T | CA355916217 | PDE6B | c.1559G>T (p.Gly520Val) c.722G>T (p.Gly241Val) c.1778G>T (p.Gly593Val) c.764G>T (p.Gly255Val) c.488G>T (p.Gly163Val) c.404G>T (p.Gly135Val) | |
4 | g.660559C>A | CA437897740 | PDE6B | c.1560C>A (p.Gly520=) c.723C>A (p.Gly241=) c.1779C>A (p.Gly593=) c.765C>A (p.Gly255=) c.489C>A (p.Gly163=) c.405C>A (p.Gly135=) | |
4 | g.660559C>G | CA437897741 | PDE6B | c.1560C>G (p.Gly520=) c.723C>G (p.Gly241=) c.1779C>G (p.Gly593=) c.765C>G (p.Gly255=) c.489C>G (p.Gly163=) c.405C>G (p.Gly135=) | |
4 | g.660559C>T | CA437897742 | PDE6B | c.1560C>T (p.Gly520=) c.723C>T (p.Gly241=) c.1779C>T (p.Gly593=) c.765C>T (p.Gly255=) c.489C>T (p.Gly163=) c.405C>T (p.Gly135=) | gnomAD v4 |
4 | g.660560A>C | CA355916219 | PDE6B | c.1561A>C (p.Ile521Leu) c.724A>C (p.Ile242Leu) c.1780A>C (p.Ile594Leu) c.766A>C (p.Ile256Leu) c.490A>C (p.Ile164Leu) c.406A>C (p.Ile136Leu) | |
4 | g.660560A>G | CA355916222 | PDE6B | c.1561A>G (p.Ile521Val) c.724A>G (p.Ile242Val) c.1780A>G (p.Ile594Val) c.766A>G (p.Ile256Val) c.490A>G (p.Ile164Val) c.406A>G (p.Ile136Val) | |
4 | g.660560A>T | CA355916228 | PDE6B | c.1561A>T (p.Ile521Phe) c.724A>T (p.Ile242Phe) c.1780A>T (p.Ile594Phe) c.766A>T (p.Ile256Phe) c.490A>T (p.Ile164Phe) c.406A>T (p.Ile136Phe) | |
4 | g.660561T>A | CA355916230 | PDE6B | c.1562T>A (p.Ile521Asn) c.725T>A (p.Ile242Asn) c.1781T>A (p.Ile594Asn) c.767T>A (p.Ile256Asn) c.491T>A (p.Ile164Asn) c.407T>A (p.Ile136Asn) | gnomAD v4 |
4 | g.660561T>C | CA355916232 | PDE6B | c.1562T>C (p.Ile521Thr) c.725T>C (p.Ile242Thr) c.1781T>C (p.Ile594Thr) c.767T>C (p.Ile256Thr) c.491T>C (p.Ile164Thr) c.407T>C (p.Ile136Thr) | |
4 | g.660561T>G | CA355916235 | PDE6B | c.1562T>G (p.Ile521Ser) c.725T>G (p.Ile242Ser) c.1781T>G (p.Ile594Ser) c.767T>G (p.Ile256Ser) c.491T>G (p.Ile164Ser) c.407T>G (p.Ile136Ser) |