Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.98389664G>A | CA1793763 | CNGA3 | c.456G>A (p.Lys152=) n.461G>A c.468G>A (p.Lys156=) c.402G>A (p.Lys134=) c.567G>A (p.Lys189=) c.621G>A (p.Lys207=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
2 | g.98389664G>C | CA347831426 | CNGA3 | c.456G>C (p.Lys152Asn) n.461G>C c.468G>C (p.Lys156Asn) c.402G>C (p.Lys134Asn) c.567G>C (p.Lys189Asn) c.621G>C (p.Lys207Asn) | |
2 | g.98389664G= | CA1273416648 | CNGA3 | c.456G= (p.Lys152=) n.461G= c.468G= (p.Lys156=) c.402G= (p.Lys134=) c.567G= (p.Lys189=) c.621G= (p.Lys207=) | |
2 | g.98389664G>T | CA347831427 | CNGA3 | c.456G>T (p.Lys152Asn) n.461G>T c.468G>T (p.Lys156Asn) c.402G>T (p.Lys134Asn) c.567G>T (p.Lys189Asn) c.621G>T (p.Lys207Asn) | |
2 | g.98389665A>C | CA347831430 | CNGA3 | c.457A>C (p.Thr153Pro) n.462A>C c.469A>C (p.Thr157Pro) c.403A>C (p.Thr135Pro) c.568A>C (p.Thr190Pro) c.622A>C (p.Thr208Pro) | |
2 | g.98389665A>G | CA347831429 | CNGA3 | c.457A>G (p.Thr153Ala) n.462A>G c.469A>G (p.Thr157Ala) c.403A>G (p.Thr135Ala) c.568A>G (p.Thr190Ala) c.622A>G (p.Thr208Ala) | |
2 | g.98389665A>T | CA347831428 | CNGA3 | c.457A>T (p.Thr153Ser) n.462A>T c.469A>T (p.Thr157Ser) c.403A>T (p.Thr135Ser) c.568A>T (p.Thr190Ser) c.622A>T (p.Thr208Ser) | |
2 | g.98389666C>A | CA347831431 | CNGA3 | c.458C>A (p.Thr153Lys) n.463C>A c.470C>A (p.Thr157Lys) c.404C>A (p.Thr135Lys) c.569C>A (p.Thr190Lys) c.623C>A (p.Thr208Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.98389666C= | CA1273416649 | CNGA3 | c.458C= (p.Thr153=) n.463C= c.470C= (p.Thr157=) c.404C= (p.Thr135=) c.569C= (p.Thr190=) c.623C= (p.Thr208=) | |
2 | g.98389666C>G | CA347831432 | CNGA3 | c.458C>G (p.Thr153Arg) n.463C>G c.470C>G (p.Thr157Arg) c.404C>G (p.Thr135Arg) c.569C>G (p.Thr190Arg) c.623C>G (p.Thr208Arg) | |
2 | g.98389666C>T | CA1793764 | CNGA3 | c.458C>T (p.Thr153Met) n.463C>T c.470C>T (p.Thr157Met) c.404C>T (p.Thr135Met) c.569C>T (p.Thr190Met) c.623C>T (p.Thr208Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389667G>A | CA1793765 | CNGA3 | c.459G>A (p.Thr153=) n.464G>A c.471G>A (p.Thr157=) c.405G>A (p.Thr135=) c.570G>A (p.Thr190=) c.624G>A (p.Thr208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98389667G>C | CA427567048 | CNGA3 | c.459G>C (p.Thr153=) n.464G>C c.471G>C (p.Thr157=) c.405G>C (p.Thr135=) c.570G>C (p.Thr190=) c.624G>C (p.Thr208=) | |
2 | g.98389667G= | CA1273416650 | CNGA3 | c.459G= (p.Thr153=) n.464G= c.471G= (p.Thr157=) c.405G= (p.Thr135=) c.570G= (p.Thr190=) c.624G= (p.Thr208=) | |
2 | g.98389667G>T | CA427567049 | CNGA3 | c.459G>T (p.Thr153=) n.464G>T c.471G>T (p.Thr157=) c.405G>T (p.Thr135=) c.570G>T (p.Thr190=) c.624G>T (p.Thr208=) | |
2 | g.98389668A= | CA1273416651 | CNGA3 | c.460A= (p.Lys154=) n.465A= c.472A= (p.Lys158=) c.406A= (p.Lys136=) c.571A= (p.Lys191=) c.625A= (p.Lys209=) | |
2 | g.98389668A>C | CA347831433 | CNGA3 | c.460A>C (p.Lys154Gln) n.465A>C c.472A>C (p.Lys158Gln) c.406A>C (p.Lys136Gln) c.571A>C (p.Lys191Gln) c.625A>C (p.Lys209Gln) | |
2 | g.98389668A>G | CA52624033 | CNGA3 | c.460A>G (p.Lys154Glu) n.465A>G c.472A>G (p.Lys158Glu) c.406A>G (p.Lys136Glu) c.571A>G (p.Lys191Glu) c.625A>G (p.Lys209Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.98389668A>T | CA347831434 | CNGA3 | c.460A>T (p.Lys154Ter) n.465A>T c.472A>T (p.Lys158Ter) c.406A>T (p.Lys136Ter) c.571A>T (p.Lys191Ter) c.625A>T (p.Lys209Ter) | |
2 | g.98389672del | CA2499216312 | CNGA3 | c.464del (p.Lys155ArgfsTer18) n.469del c.476del (p.Lys159ArgfsTer18) c.410del (p.Lys137ArgfsTer18) c.575del (p.Lys192ArgfsTer18) c.629del (p.Lys210ArgfsTer18) | ClinVar dbSNP gnomAD v4 |
2 | g.98389669A= | CA1273416652 | CNGA3 | c.461A= (p.Lys154=) n.466A= c.473A= (p.Lys158=) c.407A= (p.Lys136=) c.572A= (p.Lys191=) c.626A= (p.Lys209=) | |
2 | g.98389669A>C | CA347831435 | CNGA3 | c.461A>C (p.Lys154Thr) n.466A>C c.473A>C (p.Lys158Thr) c.407A>C (p.Lys136Thr) c.572A>C (p.Lys191Thr) c.626A>C (p.Lys209Thr) | |
2 | g.98389669A>G | CA347831436 | CNGA3 | c.461A>G (p.Lys154Arg) n.466A>G c.473A>G (p.Lys158Arg) c.407A>G (p.Lys136Arg) c.572A>G (p.Lys191Arg) c.626A>G (p.Lys209Arg) | gnomAD v4 |
2 | g.98389669A>T | CA1793766 | CNGA3 | c.461A>T (p.Lys154Ile) n.466A>T c.473A>T (p.Lys158Ile) c.407A>T (p.Lys136Ile) c.572A>T (p.Lys191Ile) c.626A>T (p.Lys209Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98389670A>C | CA347831437 | CNGA3 | c.462A>C (p.Lys154Asn) n.467A>C c.474A>C (p.Lys158Asn) c.408A>C (p.Lys136Asn) c.573A>C (p.Lys191Asn) c.627A>C (p.Lys209Asn) | |
2 | g.98389670A>G | CA427567050 | CNGA3 | c.462A>G (p.Lys154=) n.467A>G c.474A>G (p.Lys158=) c.408A>G (p.Lys136=) c.573A>G (p.Lys191=) c.627A>G (p.Lys209=) | gnomAD v4 |
2 | g.98389670A>T | CA347831438 | CNGA3 | c.462A>T (p.Lys154Asn) n.467A>T c.474A>T (p.Lys158Asn) c.408A>T (p.Lys136Asn) c.573A>T (p.Lys191Asn) c.627A>T (p.Lys209Asn) | |
2 | g.98389670_98389673delinsAAAG | CA1273416653 | CNGA3 | c.462_465delinsAAAG (p.Lys154=) n.467_470delinsAAAG c.474_477delinsAAAG (p.Lys158=) c.408_411delinsAAAG (p.Lys136=) c.573_576delinsAAAG (p.Lys191=) c.627_630delinsAAAG (p.Lys209=) | |
2 | g.98389671A>C | CA347831441 | CNGA3 | c.463A>C (p.Lys155Gln) n.468A>C c.475A>C (p.Lys159Gln) c.409A>C (p.Lys137Gln) c.574A>C (p.Lys192Gln) c.628A>C (p.Lys210Gln) | |
2 | g.98389671A>G | CA347831440 | CNGA3 | c.463A>G (p.Lys155Glu) n.468A>G c.475A>G (p.Lys159Glu) c.409A>G (p.Lys137Glu) c.574A>G (p.Lys192Glu) c.628A>G (p.Lys210Glu) | |
2 | g.98389671A>T | CA347831439 | CNGA3 | c.463A>T (p.Lys155Ter) n.468A>T c.475A>T (p.Lys159Ter) c.409A>T (p.Lys137Ter) c.574A>T (p.Lys192Ter) c.628A>T (p.Lys210Ter) | |
2 | g.98389674_98389676del | CA534921170 | CNGA3 | c.466_468del (p.Lys156del) n.471_473del c.478_480del (p.Lys160del) c.412_414del (p.Lys138del) c.577_579del (p.Lys193del) c.631_633del (p.Lys211del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.98389672A= | CA1273416654 | CNGA3 | c.464A= (p.Lys155=) n.469A= c.476A= (p.Lys159=) c.410A= (p.Lys137=) c.575A= (p.Lys192=) c.629A= (p.Lys210=) | |
2 | g.98389672A>C | CA347831442 | CNGA3 | c.464A>C (p.Lys155Thr) n.469A>C c.476A>C (p.Lys159Thr) c.410A>C (p.Lys137Thr) c.575A>C (p.Lys192Thr) c.629A>C (p.Lys210Thr) | |
2 | g.98389672A>G | CA347831443 | CNGA3 | c.464A>G (p.Lys155Arg) n.469A>G c.476A>G (p.Lys159Arg) c.410A>G (p.Lys137Arg) c.575A>G (p.Lys192Arg) c.629A>G (p.Lys210Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.98389672A>T | CA347831444 | CNGA3 | c.464A>T (p.Lys155Met) n.469A>T c.476A>T (p.Lys159Met) c.410A>T (p.Lys137Met) c.575A>T (p.Lys192Met) c.629A>T (p.Lys210Met) | |
2 | g.98389673G>A | CA427567051 | CNGA3 | c.465G>A (p.Lys155=) n.470G>A c.477G>A (p.Lys159=) c.411G>A (p.Lys137=) c.576G>A (p.Lys192=) c.630G>A (p.Lys210=) | |
2 | g.98389673G>C | CA347831445 | CNGA3 | c.465G>C (p.Lys155Asn) n.470G>C c.477G>C (p.Lys159Asn) c.411G>C (p.Lys137Asn) c.576G>C (p.Lys192Asn) c.630G>C (p.Lys210Asn) | |
2 | g.98389673G>T | CA347831446 | CNGA3 | c.465G>T (p.Lys155Asn) n.470G>T c.477G>T (p.Lys159Asn) c.411G>T (p.Lys137Asn) c.576G>T (p.Lys192Asn) c.630G>T (p.Lys210Asn) | |
2 | g.98389674A>C | CA347831447 | CNGA3 | c.466A>C (p.Lys156Gln) n.471A>C c.478A>C (p.Lys160Gln) c.412A>C (p.Lys138Gln) c.577A>C (p.Lys193Gln) c.631A>C (p.Lys211Gln) | |
2 | g.98389674A>G | CA347831448 | CNGA3 | c.466A>G (p.Lys156Glu) n.471A>G c.478A>G (p.Lys160Glu) c.412A>G (p.Lys138Glu) c.577A>G (p.Lys193Glu) c.631A>G (p.Lys211Glu) | |
2 | g.98389674A>T | CA347831449 | CNGA3 | c.466A>T (p.Lys156Ter) n.471A>T c.478A>T (p.Lys160Ter) c.412A>T (p.Lys138Ter) c.577A>T (p.Lys193Ter) c.631A>T (p.Lys211Ter) | |
2 | g.98389675A= | CA1273416655 | CNGA3 | c.467A= (p.Lys156=) n.472A= c.479A= (p.Lys160=) c.413A= (p.Lys138=) c.578A= (p.Lys193=) c.632A= (p.Lys211=) | |
2 | g.98389675A>C | CA347831450 | CNGA3 | c.467A>C (p.Lys156Thr) n.472A>C c.479A>C (p.Lys160Thr) c.413A>C (p.Lys138Thr) c.578A>C (p.Lys193Thr) c.632A>C (p.Lys211Thr) | |
2 | g.98389675A>G | CA347831451 | CNGA3 | c.467A>G (p.Lys156Arg) n.472A>G c.479A>G (p.Lys160Arg) c.413A>G (p.Lys138Arg) c.578A>G (p.Lys193Arg) c.632A>G (p.Lys211Arg) | dbSNP |
2 | g.98389675A>T | CA347831452 | CNGA3 | c.467A>T (p.Lys156Met) n.472A>T c.479A>T (p.Lys160Met) c.413A>T (p.Lys138Met) c.578A>T (p.Lys193Met) c.632A>T (p.Lys211Met) | |
2 | g.98389676G>A | CA427567052 | CNGA3 | c.468G>A (p.Lys156=) n.473G>A c.480G>A (p.Lys160=) c.414G>A (p.Lys138=) c.579G>A (p.Lys193=) c.633G>A (p.Lys211=) | |
2 | g.98389676G>C | CA347831453 | CNGA3 | c.468G>C (p.Lys156Asn) n.473G>C c.480G>C (p.Lys160Asn) c.414G>C (p.Lys138Asn) c.579G>C (p.Lys193Asn) c.633G>C (p.Lys211Asn) | dbSNP gnomAD v4 |
2 | g.98389676G= | CA1273416656 | CNGA3 | c.468G= (p.Lys156=) n.473G= c.480G= (p.Lys160=) c.414G= (p.Lys138=) c.579G= (p.Lys193=) c.633G= (p.Lys211=) | |
2 | g.98389676G>T | CA347831454 | CNGA3 | c.468G>T (p.Lys156Asn) n.473G>T c.480G>T (p.Lys160Asn) c.414G>T (p.Lys138Asn) c.579G>T (p.Lys193Asn) c.633G>T (p.Lys211Asn) | |
2 | g.98389677G>A | CA347831456 | CNGA3 | c.469G>A (p.Asp157Asn) n.474G>A c.481G>A (p.Asp161Asn) c.415G>A (p.Asp139Asn) c.580G>A (p.Asp194Asn) c.634G>A (p.Asp212Asn) | |
2 | g.98389677G>C | CA347831457 | CNGA3 | c.469G>C (p.Asp157His) n.474G>C c.481G>C (p.Asp161His) c.415G>C (p.Asp139His) c.580G>C (p.Asp194His) c.634G>C (p.Asp212His) | |
2 | g.98389677G>T | CA347831455 | CNGA3 | c.469G>T (p.Asp157Tyr) n.474G>T c.481G>T (p.Asp161Tyr) c.415G>T (p.Asp139Tyr) c.580G>T (p.Asp194Tyr) c.634G>T (p.Asp212Tyr) | |
2 | g.98389678A= | CA1273416657 | CNGA3 | c.470A= (p.Asp157=) n.475A= c.482A= (p.Asp161=) c.416A= (p.Asp139=) c.581A= (p.Asp194=) c.635A= (p.Asp212=) | |
2 | g.98389678A>C | CA347831459 | CNGA3 | c.470A>C (p.Asp157Ala) n.475A>C c.482A>C (p.Asp161Ala) c.416A>C (p.Asp139Ala) c.581A>C (p.Asp194Ala) c.635A>C (p.Asp212Ala) | |
2 | g.98389678A>G | CA347831458 | CNGA3 | c.470A>G (p.Asp157Gly) n.475A>G c.482A>G (p.Asp161Gly) c.416A>G (p.Asp139Gly) c.581A>G (p.Asp194Gly) c.635A>G (p.Asp212Gly) | dbSNP |
2 | g.98389678A>T | CA347831460 | CNGA3 | c.470A>T (p.Asp157Val) n.475A>T c.482A>T (p.Asp161Val) c.416A>T (p.Asp139Val) c.581A>T (p.Asp194Val) c.635A>T (p.Asp212Val) | |
2 | g.98389679T>A | CA347831461 | CNGA3 | c.471T>A (p.Asp157Glu) n.476T>A c.483T>A (p.Asp161Glu) c.417T>A (p.Asp139Glu) c.582T>A (p.Asp194Glu) c.636T>A (p.Asp212Glu) | |
2 | g.98389679T>C | CA427567053 | CNGA3 | c.471T>C (p.Asp157=) n.476T>C c.483T>C (p.Asp161=) c.417T>C (p.Asp139=) c.582T>C (p.Asp194=) c.636T>C (p.Asp212=) | ClinVar gnomAD v4 |
2 | g.98389679T>G | CA1793767 | CNGA3 | c.471T>G (p.Asp157Glu) n.476T>G c.483T>G (p.Asp161Glu) c.417T>G (p.Asp139Glu) c.582T>G (p.Asp194Glu) c.636T>G (p.Asp212Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389679T= | CA1273416658 | CNGA3 | c.471T= (p.Asp157=) n.476T= c.483T= (p.Asp161=) c.417T= (p.Asp139=) c.582T= (p.Asp194=) c.636T= (p.Asp212=) | |
2 | g.98389680G>A | CA347831462 | CNGA3 | c.472G>A (p.Ala158Thr) n.477G>A c.484G>A (p.Ala162Thr) c.418G>A (p.Ala140Thr) c.583G>A (p.Ala195Thr) c.637G>A (p.Ala213Thr) | |
2 | g.98389680G>C | CA347831463 | CNGA3 | c.472G>C (p.Ala158Pro) n.477G>C c.484G>C (p.Ala162Pro) c.418G>C (p.Ala140Pro) c.583G>C (p.Ala195Pro) c.637G>C (p.Ala213Pro) | |
2 | g.98389680G>T | CA347831464 | CNGA3 | c.472G>T (p.Ala158Ser) n.477G>T c.484G>T (p.Ala162Ser) c.418G>T (p.Ala140Ser) c.583G>T (p.Ala195Ser) c.637G>T (p.Ala213Ser) | |
2 | g.98389681C>A | CA1793769 | CNGA3 | c.473C>A (p.Ala158Glu) n.478C>A c.485C>A (p.Ala162Glu) c.419C>A (p.Ala140Glu) c.584C>A (p.Ala195Glu) c.638C>A (p.Ala213Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389681C= | CA1273416659 | CNGA3 | c.473C= (p.Ala158=) n.478C= c.485C= (p.Ala162=) c.419C= (p.Ala140=) c.584C= (p.Ala195=) c.638C= (p.Ala213=) | |
2 | g.98389681C>G | CA347831465 | CNGA3 | c.473C>G (p.Ala158Gly) n.478C>G c.485C>G (p.Ala162Gly) c.419C>G (p.Ala140Gly) c.584C>G (p.Ala195Gly) c.638C>G (p.Ala213Gly) | |
2 | g.98389681C>T | CA1793768 | CNGA3 | c.473C>T (p.Ala158Val) n.478C>T c.485C>T (p.Ala162Val) c.419C>T (p.Ala140Val) c.584C>T (p.Ala195Val) c.638C>T (p.Ala213Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98389682G>A | CA52624058 | CNGA3 | c.474G>A (p.Ala158=) n.479G>A c.486G>A (p.Ala162=) c.420G>A (p.Ala140=) c.585G>A (p.Ala195=) c.639G>A (p.Ala213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389682G>C | CA427567054 | CNGA3 | c.474G>C (p.Ala158=) n.479G>C c.486G>C (p.Ala162=) c.420G>C (p.Ala140=) c.585G>C (p.Ala195=) c.639G>C (p.Ala213=) | gnomAD v4 |
2 | g.98389682G= | CA1273416660 | CNGA3 | c.474G= (p.Ala158=) n.479G= c.486G= (p.Ala162=) c.420G= (p.Ala140=) c.585G= (p.Ala195=) c.639G= (p.Ala213=) | |
2 | g.98389682G>T | CA427567055 | CNGA3 | c.474G>T (p.Ala158=) n.479G>T c.486G>T (p.Ala162=) c.420G>T (p.Ala140=) c.585G>T (p.Ala195=) c.639G>T (p.Ala213=) | |
2 | g.98389683A>C | CA347831466 | CNGA3 | c.475A>C (p.Ile159Leu) n.480A>C c.487A>C (p.Ile163Leu) c.421A>C (p.Ile141Leu) c.586A>C (p.Ile196Leu) c.640A>C (p.Ile214Leu) | |
2 | g.98389683A>G | CA347831467 | CNGA3 | c.475A>G (p.Ile159Val) n.480A>G c.487A>G (p.Ile163Val) c.421A>G (p.Ile141Val) c.586A>G (p.Ile196Val) c.640A>G (p.Ile214Val) | |
2 | g.98389683A>T | CA347831468 | CNGA3 | c.475A>T (p.Ile159Phe) n.480A>T c.487A>T (p.Ile163Phe) c.421A>T (p.Ile141Phe) c.586A>T (p.Ile196Phe) c.640A>T (p.Ile214Phe) | |
2 | g.98389684T>A | CA347831471 | CNGA3 | c.476T>A (p.Ile159Asn) n.481T>A c.488T>A (p.Ile163Asn) c.422T>A (p.Ile141Asn) c.587T>A (p.Ile196Asn) c.641T>A (p.Ile214Asn) | |
2 | g.98389684T>C | CA347831469 | CNGA3 | c.476T>C (p.Ile159Thr) n.481T>C c.488T>C (p.Ile163Thr) c.422T>C (p.Ile141Thr) c.587T>C (p.Ile196Thr) c.641T>C (p.Ile214Thr) | |
2 | g.98389684T>G | CA347831470 | CNGA3 | c.476T>G (p.Ile159Ser) n.481T>G c.488T>G (p.Ile163Ser) c.422T>G (p.Ile141Ser) c.587T>G (p.Ile196Ser) c.641T>G (p.Ile214Ser) | |
2 | g.98389685C>A | CA427567056 | CNGA3 | c.477C>A (p.Ile159=) n.482C>A c.489C>A (p.Ile163=) c.423C>A (p.Ile141=) c.588C>A (p.Ile196=) c.642C>A (p.Ile214=) | gnomAD v4 |
2 | g.98389685C= | CA1273416661 | CNGA3 | c.477C= (p.Ile159=) n.482C= c.489C= (p.Ile163=) c.423C= (p.Ile141=) c.588C= (p.Ile196=) c.642C= (p.Ile214=) | |
2 | g.98389685C>G | CA347831472 | CNGA3 | c.477C>G (p.Ile159Met) n.482C>G c.489C>G (p.Ile163Met) c.423C>G (p.Ile141Met) c.588C>G (p.Ile196Met) c.642C>G (p.Ile214Met) | gnomAD v4 |
2 | g.98389685C>T | CA1793770 | CNGA3 | c.477C>T (p.Ile159=) n.482C>T c.489C>T (p.Ile163=) c.423C>T (p.Ile141=) c.588C>T (p.Ile196=) c.642C>T (p.Ile214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389686G>A | CA1793771 | CNGA3 | c.478G>A (p.Val160Met) n.483G>A c.490G>A (p.Val164Met) c.424G>A (p.Val142Met) c.589G>A (p.Val197Met) c.643G>A (p.Val215Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389686G>C | CA347831473 | CNGA3 | c.478G>C (p.Val160Leu) n.483G>C c.490G>C (p.Val164Leu) c.424G>C (p.Val142Leu) c.589G>C (p.Val197Leu) c.643G>C (p.Val215Leu) | gnomAD v4 |
2 | g.98389686G= | CA1273416662 | CNGA3 | c.478G= (p.Val160=) n.483G= c.490G= (p.Val164=) c.424G= (p.Val142=) c.589G= (p.Val197=) c.643G= (p.Val215=) | |
2 | g.98389686G>T | CA347831474 | CNGA3 | c.478G>T (p.Val160Leu) n.483G>T c.490G>T (p.Val164Leu) c.424G>T (p.Val142Leu) c.589G>T (p.Val197Leu) c.643G>T (p.Val215Leu) | |
2 | g.98389687T>A | CA347831475 | CNGA3 | c.479T>A (p.Val160Glu) n.484T>A c.491T>A (p.Val164Glu) c.425T>A (p.Val142Glu) c.590T>A (p.Val197Glu) c.644T>A (p.Val215Glu) | |
2 | g.98389687T>C | CA1793772 | CNGA3 | c.479T>C (p.Val160Ala) n.484T>C c.491T>C (p.Val164Ala) c.425T>C (p.Val142Ala) c.590T>C (p.Val197Ala) c.644T>C (p.Val215Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98389687T>G | CA347831476 | CNGA3 | c.479T>G (p.Val160Gly) n.484T>G c.491T>G (p.Val164Gly) c.425T>G (p.Val142Gly) c.590T>G (p.Val197Gly) c.644T>G (p.Val215Gly) | ClinVar dbSNP |
2 | g.98389687T= | CA1273416663 | CNGA3 | c.479T= (p.Val160=) n.484T= c.491T= (p.Val164=) c.425T= (p.Val142=) c.590T= (p.Val197=) c.644T= (p.Val215=) | |
2 | g.98389688G>A | CA427567057 | CNGA3 | c.480G>A (p.Val160=) n.485G>A c.492G>A (p.Val164=) c.426G>A (p.Val142=) c.591G>A (p.Val197=) c.645G>A (p.Val215=) | |
2 | g.98389688G>C | CA427567058 | CNGA3 | c.480G>C (p.Val160=) n.485G>C c.492G>C (p.Val164=) c.426G>C (p.Val142=) c.591G>C (p.Val197=) c.645G>C (p.Val215=) | |
2 | g.98389688G>T | CA427567059 | CNGA3 | c.480G>T (p.Val160=) n.485G>T c.492G>T (p.Val164=) c.426G>T (p.Val142=) c.591G>T (p.Val197=) c.645G>T (p.Val215=) | |
2 | g.98389689G>A | CA347831477 | CNGA3 | c.481G>A (p.Val161Met) n.486G>A c.493G>A (p.Val165Met) c.427G>A (p.Val143Met) c.592G>A (p.Val198Met) c.646G>A (p.Val216Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.98389689G>C | CA347831478 | CNGA3 | c.481G>C (p.Val161Leu) n.486G>C c.493G>C (p.Val165Leu) c.427G>C (p.Val143Leu) c.592G>C (p.Val198Leu) c.646G>C (p.Val216Leu) | |
2 | g.98389689G= | CA1273416664 | CNGA3 | c.481G= (p.Val161=) n.486G= c.493G= (p.Val165=) c.427G= (p.Val143=) c.592G= (p.Val198=) c.646G= (p.Val216=) | |
2 | g.98389689G>T | CA347831479 | CNGA3 | c.481G>T (p.Val161Leu) n.486G>T c.493G>T (p.Val165Leu) c.427G>T (p.Val143Leu) c.592G>T (p.Val198Leu) c.646G>T (p.Val216Leu) | gnomAD v4 |
2 | g.98389690T>A | CA347831481 | CNGA3 | c.482T>A (p.Val161Glu) n.487T>A c.494T>A (p.Val165Glu) c.428T>A (p.Val143Glu) c.593T>A (p.Val198Glu) c.647T>A (p.Val216Glu) | |
2 | g.98389690T>C | CA347831482 | CNGA3 | c.482T>C (p.Val161Ala) n.487T>C c.494T>C (p.Val165Ala) c.428T>C (p.Val143Ala) c.593T>C (p.Val198Ala) c.647T>C (p.Val216Ala) | |
2 | g.98389690T>G | CA347831480 | CNGA3 | c.482T>G (p.Val161Gly) n.487T>G c.494T>G (p.Val165Gly) c.428T>G (p.Val143Gly) c.593T>G (p.Val198Gly) c.647T>G (p.Val216Gly) | |
2 | g.98389690_98389691delinsTG | CA1273416665 | CNGA3 | c.482_483delinsTG (p.Val161=) n.487_488delinsTG c.494_495delinsTG (p.Val165=) c.428_429delinsTG (p.Val143=) c.593_594delinsTG (p.Val198=) c.647_648delinsTG (p.Val216=) | |
2 | g.98389691G>A | CA1793773 | CNGA3 | c.483G>A (p.Val161=) n.488G>A c.495G>A (p.Val165=) c.429G>A (p.Val143=) c.594G>A (p.Val198=) c.648G>A (p.Val216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.98389691G>C | CA427567060 | CNGA3 | c.483G>C (p.Val161=) n.488G>C c.495G>C (p.Val165=) c.429G>C (p.Val143=) c.594G>C (p.Val198=) c.648G>C (p.Val216=) | dbSNP gnomAD v2 |
2 | g.98389691G= | CA1273416666 | CNGA3 | c.483G= (p.Val161=) n.488G= c.495G= (p.Val165=) c.429G= (p.Val143=) c.594G= (p.Val198=) c.648G= (p.Val216=) | |
2 | g.98389691G>T | CA427567061 | CNGA3 | c.483G>T (p.Val161=) n.488G>T c.495G>T (p.Val165=) c.429G>T (p.Val143=) c.594G>T (p.Val198=) c.648G>T (p.Val216=) | |
2 | g.98389692del | CA52624070 | CNGA3 | c.484del (p.Asp162ThrfsTer11) n.489del c.496del (p.Asp166ThrfsTer11) c.430del (p.Asp144ThrfsTer11) c.595del (p.Asp199ThrfsTer11) c.649del (p.Asp217ThrfsTer11) | ClinVar dbSNP gnomAD v4 |
2 | g.98389692G>A | CA347831483 | CNGA3 | c.484G>A (p.Asp162Asn) n.489G>A c.496G>A (p.Asp166Asn) c.430G>A (p.Asp144Asn) c.595G>A (p.Asp199Asn) c.649G>A (p.Asp217Asn) | |
2 | g.98389692G>C | CA1793774 | CNGA3 | c.484G>C (p.Asp162His) n.489G>C c.496G>C (p.Asp166His) c.430G>C (p.Asp144His) c.595G>C (p.Asp199His) c.649G>C (p.Asp217His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98389692G= | CA1273416667 | CNGA3 | c.484G= (p.Asp162=) n.489G= c.496G= (p.Asp166=) c.430G= (p.Asp144=) c.595G= (p.Asp199=) c.649G= (p.Asp217=) | |
2 | g.98389692G>T | CA347831484 | CNGA3 | c.484G>T (p.Asp162Tyr) n.489G>T c.496G>T (p.Asp166Tyr) c.430G>T (p.Asp144Tyr) c.595G>T (p.Asp199Tyr) c.649G>T (p.Asp217Tyr) | |
2 | g.98389693A= | CA1273416668 | CNGA3 | c.485A= (p.Asp162=) n.490A= c.497A= (p.Asp166=) c.431A= (p.Asp144=) c.596A= (p.Asp199=) c.650A= (p.Asp217=) | |
2 | g.98389693A>C | CA347831485 | CNGA3 | c.485A>C (p.Asp162Ala) n.490A>C c.497A>C (p.Asp166Ala) c.431A>C (p.Asp144Ala) c.596A>C (p.Asp199Ala) c.650A>C (p.Asp217Ala) | dbSNP |
2 | g.98389693A>G | CA347831486 | CNGA3 | c.485A>G (p.Asp162Gly) n.490A>G c.497A>G (p.Asp166Gly) c.431A>G (p.Asp144Gly) c.596A>G (p.Asp199Gly) c.650A>G (p.Asp217Gly) | gnomAD v4 |
2 | g.98389693A>T | CA1793775 | CNGA3 | c.485A>T (p.Asp162Val) n.490A>T c.497A>T (p.Asp166Val) c.431A>T (p.Asp144Val) c.596A>T (p.Asp199Val) c.650A>T (p.Asp217Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389694C>A | CA347831487 | CNGA3 | c.486C>A (p.Asp162Glu) n.491C>A c.498C>A (p.Asp166Glu) c.432C>A (p.Asp144Glu) c.597C>A (p.Asp199Glu) c.651C>A (p.Asp217Glu) | |
2 | g.98389694C>G | CA347831488 | CNGA3 | c.486C>G (p.Asp162Glu) n.491C>G c.498C>G (p.Asp166Glu) c.432C>G (p.Asp144Glu) c.597C>G (p.Asp199Glu) c.651C>G (p.Asp217Glu) | |
2 | g.98389694C>T | CA427567062 | CNGA3 | c.486C>T (p.Asp162=) n.491C>T c.498C>T (p.Asp166=) c.432C>T (p.Asp144=) c.597C>T (p.Asp199=) c.651C>T (p.Asp217=) | |
2 | g.98389694_98389698delinsCCCGT | CA1273416669 | CNGA3 | c.486_490delinsCCCGT (p.Asp162=) n.491_495delinsCCCGT c.498_502delinsCCCGT (p.Asp166=) c.432_436delinsCCCGT (p.Asp144=) c.597_601delinsCCCGT (p.Asp199=) c.651_655delinsCCCGT (p.Asp217=) | |
2 | g.98389695C>A | CA347831489 | CNGA3 | c.487C>A (p.Pro163Thr) n.492C>A c.499C>A (p.Pro167Thr) c.433C>A (p.Pro145Thr) c.598C>A (p.Pro200Thr) c.652C>A (p.Pro218Thr) | ClinVar |
2 | g.98389695C>G | CA347831490 | CNGA3 | c.487C>G (p.Pro163Ala) n.492C>G c.499C>G (p.Pro167Ala) c.433C>G (p.Pro145Ala) c.598C>G (p.Pro200Ala) c.652C>G (p.Pro218Ala) | |
2 | g.98389695C>T | CA347831491 | CNGA3 | c.487C>T (p.Pro163Ser) n.492C>T c.499C>T (p.Pro167Ser) c.433C>T (p.Pro145Ser) c.598C>T (p.Pro200Ser) c.652C>T (p.Pro218Ser) | COSMIC |
2 | g.98389697_98389700del | CA52624090 | CNGA3 | c.489_492del (p.Ser164AlafsTer8) n.494_497del c.501_504del (p.Ser168AlafsTer8) c.435_438del (p.Ser146AlafsTer8) c.600_603del (p.Ser201AlafsTer8) c.654_657del (p.Ser219AlafsTer8) | ClinVar dbSNP gnomAD v4 |
2 | g.98389696C>A | CA347831493 | CNGA3 | c.488C>A (p.Pro163Gln) n.493C>A c.500C>A (p.Pro167Gln) c.434C>A (p.Pro145Gln) c.599C>A (p.Pro200Gln) c.653C>A (p.Pro218Gln) | ClinVar gnomAD v4 COSMIC |
2 | g.98389696C= | CA1273416670 | CNGA3 | c.488C= (p.Pro163=) n.493C= c.500C= (p.Pro167=) c.434C= (p.Pro145=) c.599C= (p.Pro200=) c.653C= (p.Pro218=) | |
2 | g.98389696C>G | CA347831492 | CNGA3 | c.488C>G (p.Pro163Arg) n.493C>G c.500C>G (p.Pro167Arg) c.434C>G (p.Pro145Arg) c.599C>G (p.Pro200Arg) c.653C>G (p.Pro218Arg) | |
2 | g.98389696C>T | CA254819 | CNGA3 | c.488C>T (p.Pro163Leu) n.493C>T c.500C>T (p.Pro167Leu) c.434C>T (p.Pro145Leu) c.599C>T (p.Pro200Leu) c.653C>T (p.Pro218Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389697G>A | CA1793776 | CNGA3 | c.489G>A (p.Pro163=) n.494G>A c.501G>A (p.Pro167=) c.435G>A (p.Pro145=) c.600G>A (p.Pro200=) c.654G>A (p.Pro218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98389697G>C | CA427567063 | CNGA3 | c.489G>C (p.Pro163=) n.494G>C c.501G>C (p.Pro167=) c.435G>C (p.Pro145=) c.600G>C (p.Pro200=) c.654G>C (p.Pro218=) | |
2 | g.98389697G= | CA1273416671 | CNGA3 | c.489G= (p.Pro163=) n.494G= c.501G= (p.Pro167=) c.435G= (p.Pro145=) c.600G= (p.Pro200=) c.654G= (p.Pro218=) | |
2 | g.98389697G>T | CA427567064 | CNGA3 | c.489G>T (p.Pro163=) n.494G>T c.501G>T (p.Pro167=) c.435G>T (p.Pro145=) c.600G>T (p.Pro200=) c.654G>T (p.Pro218=) | |
2 | g.98389698T>A | CA347831494 | CNGA3 | c.490T>A (p.Ser164Thr) n.495T>A c.502T>A (p.Ser168Thr) c.436T>A (p.Ser146Thr) c.601T>A (p.Ser201Thr) c.655T>A (p.Ser219Thr) | |
2 | g.98389698T>C | CA347831495 | CNGA3 | c.490T>C (p.Ser164Pro) n.495T>C c.502T>C (p.Ser168Pro) c.436T>C (p.Ser146Pro) c.601T>C (p.Ser201Pro) c.655T>C (p.Ser219Pro) | dbSNP |
2 | g.98389698T>G | CA347831496 | CNGA3 | c.490T>G (p.Ser164Ala) n.495T>G c.502T>G (p.Ser168Ala) c.436T>G (p.Ser146Ala) c.601T>G (p.Ser201Ala) c.655T>G (p.Ser219Ala) | |
2 | g.98389698T= | CA1273416672 | CNGA3 | c.490T= (p.Ser164=) n.495T= c.502T= (p.Ser168=) c.436T= (p.Ser146=) c.601T= (p.Ser201=) c.655T= (p.Ser219=) | |
2 | g.98389699C>A | CA347831497 | CNGA3 | c.491C>A (p.Ser164Tyr) n.496C>A c.503C>A (p.Ser168Tyr) c.437C>A (p.Ser146Tyr) c.602C>A (p.Ser201Tyr) c.656C>A (p.Ser219Tyr) | |
2 | g.98389699C= | CA1273416673 | CNGA3 | c.491C= (p.Ser164=) n.496C= c.503C= (p.Ser168=) c.437C= (p.Ser146=) c.602C= (p.Ser201=) c.656C= (p.Ser219=) | |
2 | g.98389699C>G | CA347831498 | CNGA3 | c.491C>G (p.Ser164Cys) n.496C>G c.503C>G (p.Ser168Cys) c.437C>G (p.Ser146Cys) c.602C>G (p.Ser201Cys) c.656C>G (p.Ser219Cys) | |
2 | g.98389699C>T | CA52624103 | CNGA3 | c.491C>T (p.Ser164Phe) n.496C>T c.503C>T (p.Ser168Phe) c.437C>T (p.Ser146Phe) c.602C>T (p.Ser201Phe) c.656C>T (p.Ser219Phe) | dbSNP gnomAD v4 |
2 | g.98389700C>A | CA427567065 | CNGA3 | c.492C>A (p.Ser164=) n.497C>A c.504C>A (p.Ser168=) c.438C>A (p.Ser146=) c.603C>A (p.Ser201=) c.657C>A (p.Ser219=) | |
2 | g.98389700C= | CA1273416674 | CNGA3 | c.492C= (p.Ser164=) n.497C= c.504C= (p.Ser168=) c.438C= (p.Ser146=) c.603C= (p.Ser201=) c.657C= (p.Ser219=) | |
2 | g.98389700C>G | CA427567066 | CNGA3 | c.492C>G (p.Ser164=) n.497C>G c.504C>G (p.Ser168=) c.438C>G (p.Ser146=) c.603C>G (p.Ser201=) c.657C>G (p.Ser219=) | |
2 | g.98389700C>T | CA427567067 | CNGA3 | c.492C>T (p.Ser164=) n.497C>T c.504C>T (p.Ser168=) c.438C>T (p.Ser146=) c.603C>T (p.Ser201=) c.657C>T (p.Ser219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389701A>C | CA347831499 | CNGA3 | c.493A>C (p.Ser165Arg) n.498A>C c.505A>C (p.Ser169Arg) c.439A>C (p.Ser147Arg) c.604A>C (p.Ser202Arg) c.658A>C (p.Ser220Arg) | |
2 | g.98389701A>G | CA347831500 | CNGA3 | c.493A>G (p.Ser165Gly) n.498A>G c.505A>G (p.Ser169Gly) c.439A>G (p.Ser147Gly) c.604A>G (p.Ser202Gly) c.658A>G (p.Ser220Gly) | |
2 | g.98389701A>T | CA347831501 | CNGA3 | c.493A>T (p.Ser165Cys) n.498A>T c.505A>T (p.Ser169Cys) c.439A>T (p.Ser147Cys) c.604A>T (p.Ser202Cys) c.658A>T (p.Ser220Cys) | |
2 | g.98389702G>A | CA347831502 | CNGA3 | c.494G>A (p.Ser165Asn) n.499G>A c.506G>A (p.Ser169Asn) c.440G>A (p.Ser147Asn) c.605G>A (p.Ser202Asn) c.659G>A (p.Ser220Asn) | gnomAD v4 |
2 | g.98389702G>C | CA347831503 | CNGA3 | c.494G>C (p.Ser165Thr) n.499G>C c.506G>C (p.Ser169Thr) c.440G>C (p.Ser147Thr) c.605G>C (p.Ser202Thr) c.659G>C (p.Ser220Thr) | |
2 | g.98389702G>T | CA347831504 | CNGA3 | c.494G>T (p.Ser165Ile) n.499G>T c.506G>T (p.Ser169Ile) c.440G>T (p.Ser147Ile) c.605G>T (p.Ser202Ile) c.659G>T (p.Ser220Ile) | |
2 | g.98389703C>A | CA347831506 | CNGA3 | c.495C>A (p.Ser165Arg) n.500C>A c.507C>A (p.Ser169Arg) c.441C>A (p.Ser147Arg) c.606C>A (p.Ser202Arg) c.660C>A (p.Ser220Arg) | |
2 | g.98389703C= | CA1273416675 | CNGA3 | c.495C= (p.Ser165=) n.500C= c.507C= (p.Ser169=) c.441C= (p.Ser147=) c.606C= (p.Ser202=) c.660C= (p.Ser220=) | |
2 | g.98389703C>G | CA347831505 | CNGA3 | c.495C>G (p.Ser165Arg) n.500C>G c.507C>G (p.Ser169Arg) c.441C>G (p.Ser147Arg) c.606C>G (p.Ser202Arg) c.660C>G (p.Ser220Arg) | |
2 | g.98389703C>T | CA427567068 | CNGA3 | c.495C>T (p.Ser165=) n.500C>T c.507C>T (p.Ser169=) c.441C>T (p.Ser147=) c.606C>T (p.Ser202=) c.660C>T (p.Ser220=) | ClinVar dbSNP gnomAD v4 |
2 | g.98389704A= | CA1273416676 | CNGA3 | c.496A= (p.Asn166=) n.501A= c.508A= (p.Asn170=) c.442A= (p.Asn148=) c.607A= (p.Asn203=) c.661A= (p.Asn221=) | |
2 | g.98389704A>C | CA347831507 | CNGA3 | c.496A>C (p.Asn166His) n.501A>C c.508A>C (p.Asn170His) c.442A>C (p.Asn148His) c.607A>C (p.Asn203His) c.661A>C (p.Asn221His) | |
2 | g.98389704A>G | CA347831508 | CNGA3 | c.496A>G (p.Asn166Asp) n.501A>G c.508A>G (p.Asn170Asp) c.442A>G (p.Asn148Asp) c.607A>G (p.Asn203Asp) c.661A>G (p.Asn221Asp) | |
2 | g.98389704A>T | CA52624107 | CNGA3 | c.496A>T (p.Asn166Tyr) n.501A>T c.508A>T (p.Asn170Tyr) c.442A>T (p.Asn148Tyr) c.607A>T (p.Asn203Tyr) c.661A>T (p.Asn221Tyr) | dbSNP |
2 | g.98389705A= | CA1273416677 | CNGA3 | c.497A= (p.Asn166=) n.502A= c.509A= (p.Asn170=) c.443A= (p.Asn148=) c.608A= (p.Asn203=) c.662A= (p.Asn221=) | |
2 | g.98389705A>C | CA347831509 | CNGA3 | c.497A>C (p.Asn166Thr) n.502A>C c.509A>C (p.Asn170Thr) c.443A>C (p.Asn148Thr) c.608A>C (p.Asn203Thr) c.662A>C (p.Asn221Thr) | dbSNP |
2 | g.98389705A>G | CA347831510 | CNGA3 | c.497A>G (p.Asn166Ser) n.502A>G c.509A>G (p.Asn170Ser) c.443A>G (p.Asn148Ser) c.608A>G (p.Asn203Ser) c.662A>G (p.Asn221Ser) | |
2 | g.98389705A>T | CA347831511 | CNGA3 | c.497A>T (p.Asn166Ile) n.502A>T c.509A>T (p.Asn170Ile) c.443A>T (p.Asn148Ile) c.608A>T (p.Asn203Ile) c.662A>T (p.Asn221Ile) | |
2 | g.98389705_98389706delinsAC | CA1273416678 | CNGA3 | c.497_498delinsAC (p.Asn166=) n.502_503delinsAC c.509_510delinsAC (p.Asn170=) c.443_444delinsAC (p.Asn148=) c.608_609delinsAC (p.Asn203=) c.662_663delinsAC (p.Asn221=) | |
2 | g.98389706C>A | CA347831512 | CNGA3 | c.498C>A (p.Asn166Lys) n.503C>A c.510C>A (p.Asn170Lys) c.444C>A (p.Asn148Lys) c.609C>A (p.Asn203Lys) c.663C>A (p.Asn221Lys) | |
2 | g.98389706C= | CA1273416679 | CNGA3 | c.498C= (p.Asn166=) n.503C= c.510C= (p.Asn170=) c.444C= (p.Asn148=) c.609C= (p.Asn203=) c.663C= (p.Asn221=) | |
2 | g.98389706C>G | CA347831513 | CNGA3 | c.498C>G (p.Asn166Lys) n.503C>G c.510C>G (p.Asn170Lys) c.444C>G (p.Asn148Lys) c.609C>G (p.Asn203Lys) c.663C>G (p.Asn221Lys) | |
2 | g.98389706C>T | CA427567069 | CNGA3 | c.498C>T (p.Asn166=) n.503C>T c.510C>T (p.Asn170=) c.444C>T (p.Asn148=) c.609C>T (p.Asn203=) c.663C>T (p.Asn221=) | dbSNP |
2 | g.98389707dup | CA2841257345 | CNGA3 | c.499dup (p.Leu167ProfsTer16) n.504dup c.511dup (p.Leu171ProfsTer16) c.445dup (p.Leu149ProfsTer16) c.610dup (p.Leu204ProfsTer16) c.664dup (p.Leu222ProfsTer16) | |
2 | g.98389707del | CA1139657166 | CNGA3 | c.499del (p.Leu167CysfsTer6) n.504del c.511del (p.Leu171CysfsTer6) c.445del (p.Leu149CysfsTer6) c.610del (p.Leu204CysfsTer6) c.664del (p.Leu222CysfsTer6) | ClinVar dbSNP |
2 | g.98389707C>A | CA347831514 | CNGA3 | c.499C>A (p.Leu167Met) n.504C>A c.511C>A (p.Leu171Met) c.445C>A (p.Leu149Met) c.610C>A (p.Leu204Met) c.664C>A (p.Leu222Met) | |
2 | g.98389707C= | CA1273416680 | CNGA3 | c.499C= (p.Leu167=) n.504C= c.511C= (p.Leu171=) c.445C= (p.Leu149=) c.610C= (p.Leu204=) c.664C= (p.Leu222=) | |
2 | g.98389707C>G | CA347831515 | CNGA3 | c.499C>G (p.Leu167Val) n.504C>G c.511C>G (p.Leu171Val) c.445C>G (p.Leu149Val) c.610C>G (p.Leu204Val) c.664C>G (p.Leu222Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389707C>T | CA427567070 | CNGA3 | c.499C>T (p.Leu167=) n.504C>T c.511C>T (p.Leu171=) c.445C>T (p.Leu149=) c.610C>T (p.Leu204=) c.664C>T (p.Leu222=) | gnomAD v4 |
2 | g.98389708T>A | CA347831516 | CNGA3 | c.500T>A (p.Leu167Gln) n.505T>A c.512T>A (p.Leu171Gln) c.446T>A (p.Leu149Gln) c.611T>A (p.Leu204Gln) c.665T>A (p.Leu222Gln) | |
2 | g.98389708T>C | CA347831517 | CNGA3 | c.500T>C (p.Leu167Pro) n.505T>C c.512T>C (p.Leu171Pro) c.446T>C (p.Leu149Pro) c.611T>C (p.Leu204Pro) c.665T>C (p.Leu222Pro) | |
2 | g.98389708T>G | CA347831518 | CNGA3 | c.500T>G (p.Leu167Arg) n.505T>G c.512T>G (p.Leu171Arg) c.446T>G (p.Leu149Arg) c.611T>G (p.Leu204Arg) c.665T>G (p.Leu222Arg) | |
2 | g.98389709G>A | CA427567071 | CNGA3 | c.501G>A (p.Leu167=) n.506G>A c.513G>A (p.Leu171=) c.447G>A (p.Leu149=) c.612G>A (p.Leu204=) c.666G>A (p.Leu222=) | |
2 | g.98389709G>C | CA427567072 | CNGA3 | c.501G>C (p.Leu167=) n.506G>C c.513G>C (p.Leu171=) c.447G>C (p.Leu149=) c.612G>C (p.Leu204=) c.666G>C (p.Leu222=) | |
2 | g.98389709G>T | CA427567073 | CNGA3 | c.501G>T (p.Leu167=) n.506G>T c.513G>T (p.Leu171=) c.447G>T (p.Leu149=) c.612G>T (p.Leu204=) c.666G>T (p.Leu222=) | |
2 | g.98389710T>A | CA347831519 | CNGA3 | c.502T>A (p.Tyr168Asn) n.507T>A c.514T>A (p.Tyr172Asn) c.448T>A (p.Tyr150Asn) c.613T>A (p.Tyr205Asn) c.667T>A (p.Tyr223Asn) | |
2 | g.98389710T>C | CA347831520 | CNGA3 | c.502T>C (p.Tyr168His) n.507T>C c.514T>C (p.Tyr172His) c.448T>C (p.Tyr150His) c.613T>C (p.Tyr205His) c.667T>C (p.Tyr223His) | ClinVar dbSNP |
2 | g.98389710T>G | CA347831521 | CNGA3 | c.502T>G (p.Tyr168Asp) n.507T>G c.514T>G (p.Tyr172Asp) c.448T>G (p.Tyr150Asp) c.613T>G (p.Tyr205Asp) c.667T>G (p.Tyr223Asp) | |
2 | g.98389711A>C | CA347831522 | CNGA3 | c.503A>C (p.Tyr168Ser) n.508A>C c.515A>C (p.Tyr172Ser) c.449A>C (p.Tyr150Ser) c.614A>C (p.Tyr205Ser) c.668A>C (p.Tyr223Ser) | |
2 | g.98389711A>G | CA347831524 | CNGA3 | c.503A>G (p.Tyr168Cys) n.508A>G c.515A>G (p.Tyr172Cys) c.449A>G (p.Tyr150Cys) c.614A>G (p.Tyr205Cys) c.668A>G (p.Tyr223Cys) | |
2 | g.98389711A>T | CA347831523 | CNGA3 | c.503A>T (p.Tyr168Phe) n.508A>T c.515A>T (p.Tyr172Phe) c.449A>T (p.Tyr150Phe) c.614A>T (p.Tyr205Phe) c.668A>T (p.Tyr223Phe) | |
2 | g.98389712C>A | CA347831525 | CNGA3 | c.504C>A (p.Tyr168Ter) n.509C>A c.516C>A (p.Tyr172Ter) c.450C>A (p.Tyr150Ter) c.615C>A (p.Tyr205Ter) c.669C>A (p.Tyr223Ter) | |
2 | g.98389712C>G | CA347831526 | CNGA3 | c.504C>G (p.Tyr168Ter) n.509C>G c.516C>G (p.Tyr172Ter) c.450C>G (p.Tyr150Ter) c.615C>G (p.Tyr205Ter) c.669C>G (p.Tyr223Ter) | |
2 | g.98389712C>T | CA427567074 | CNGA3 | c.504C>T (p.Tyr168=) n.509C>T c.516C>T (p.Tyr172=) c.450C>T (p.Tyr150=) c.615C>T (p.Tyr205=) c.669C>T (p.Tyr223=) | |
2 | g.98389713del | CA2660314953 | CNGA3 | c.505del (p.Tyr169ThrfsTer4) n.510del c.517del (p.Tyr173ThrfsTer4) c.451del (p.Tyr151ThrfsTer4) c.616del (p.Tyr206ThrfsTer4) c.670del (p.Tyr224ThrfsTer4) | gnomAD v4 |
2 | g.98389713T>A | CA347831527 | CNGA3 | c.505T>A (p.Tyr169Asn) n.510T>A c.517T>A (p.Tyr173Asn) c.451T>A (p.Tyr151Asn) c.616T>A (p.Tyr206Asn) c.670T>A (p.Tyr224Asn) | |
2 | g.98389713T>C | CA347831528 | CNGA3 | c.505T>C (p.Tyr169His) n.510T>C c.517T>C (p.Tyr173His) c.451T>C (p.Tyr151His) c.616T>C (p.Tyr206His) c.670T>C (p.Tyr224His) | gnomAD v4 |
2 | g.98389713T>G | CA347831529 | CNGA3 | c.505T>G (p.Tyr169Asp) n.510T>G c.517T>G (p.Tyr173Asp) c.451T>G (p.Tyr151Asp) c.616T>G (p.Tyr206Asp) c.670T>G (p.Tyr224Asp) | |
2 | g.98389714A= | CA1273416681 | CNGA3 | c.506A= (p.Tyr169=) n.511A= c.518A= (p.Tyr173=) c.452A= (p.Tyr151=) c.617A= (p.Tyr206=) c.671A= (p.Tyr224=) | |
2 | g.98389714A>C | CA347831530 | CNGA3 | c.506A>C (p.Tyr169Ser) n.511A>C c.518A>C (p.Tyr173Ser) c.452A>C (p.Tyr151Ser) c.617A>C (p.Tyr206Ser) c.671A>C (p.Tyr224Ser) | dbSNP |
2 | g.98389714A>G | CA347831531 | CNGA3 | c.506A>G (p.Tyr169Cys) n.511A>G c.518A>G (p.Tyr173Cys) c.452A>G (p.Tyr151Cys) c.617A>G (p.Tyr206Cys) c.671A>G (p.Tyr224Cys) | |
2 | g.98389714A>T | CA347831532 | CNGA3 | c.506A>T (p.Tyr169Phe) n.511A>T c.518A>T (p.Tyr173Phe) c.452A>T (p.Tyr151Phe) c.617A>T (p.Tyr206Phe) c.671A>T (p.Tyr224Phe) | |
2 | g.98389715C>A | CA347831533 | CNGA3 | c.507C>A (p.Tyr169Ter) n.512C>A c.519C>A (p.Tyr173Ter) c.453C>A (p.Tyr151Ter) c.618C>A (p.Tyr206Ter) c.672C>A (p.Tyr224Ter) | |
2 | g.98389715C>G | CA347831534 | CNGA3 | c.507C>G (p.Tyr169Ter) n.512C>G c.519C>G (p.Tyr173Ter) c.453C>G (p.Tyr151Ter) c.618C>G (p.Tyr206Ter) c.672C>G (p.Tyr224Ter) | gnomAD v4 |
2 | g.98389715C>T | CA427567075 | CNGA3 | c.507C>T (p.Tyr169=) n.512C>T c.519C>T (p.Tyr173=) c.453C>T (p.Tyr151=) c.618C>T (p.Tyr206=) c.672C>T (p.Tyr224=) | |
2 | g.98389716del | CA2751373488 | CNGA3 | c.508del (p.Arg170AlafsTer3) n.513del c.520del (p.Arg174AlafsTer3) c.454del (p.Arg152AlafsTer3) c.619del (p.Arg207AlafsTer3) c.673del (p.Arg225AlafsTer3) | |
2 | g.98389716C>A | CA1793777 | CNGA3 | c.508C>A (p.Arg170Ser) n.513C>A c.520C>A (p.Arg174Ser) c.454C>A (p.Arg152Ser) c.619C>A (p.Arg207Ser) c.673C>A (p.Arg225Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98389716C= | CA1273416682 | CNGA3 | c.508C= (p.Arg170=) n.513C= c.520C= (p.Arg174=) c.454C= (p.Arg152=) c.619C= (p.Arg207=) c.673C= (p.Arg225=) | |
2 | g.98389716C>G | CA347831535 | CNGA3 | c.508C>G (p.Arg170Gly) n.513C>G c.520C>G (p.Arg174Gly) c.454C>G (p.Arg152Gly) c.619C>G (p.Arg207Gly) c.673C>G (p.Arg225Gly) | |
2 | g.98389716C>T | CA246626 | CNGA3 | c.508C>T (p.Arg170Cys) n.513C>T c.520C>T (p.Arg174Cys) c.454C>T (p.Arg152Cys) c.619C>T (p.Arg207Cys) c.673C>T (p.Arg225Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389717G>A | CA1793778 | CNGA3 | c.509G>A (p.Arg170His) n.514G>A c.521G>A (p.Arg174His) c.455G>A (p.Arg152His) c.620G>A (p.Arg207His) c.674G>A (p.Arg225His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389717G>C | CA347831536 | CNGA3 | c.509G>C (p.Arg170Pro) n.514G>C c.521G>C (p.Arg174Pro) c.455G>C (p.Arg152Pro) c.620G>C (p.Arg207Pro) c.674G>C (p.Arg225Pro) | |
2 | g.98389717G= | CA1273416683 | CNGA3 | c.509G= (p.Arg170=) n.514G= c.521G= (p.Arg174=) c.455G= (p.Arg152=) c.620G= (p.Arg207=) c.674G= (p.Arg225=) | |
2 | g.98389717G>T | CA347831537 | CNGA3 | c.509G>T (p.Arg170Leu) n.514G>T c.521G>T (p.Arg174Leu) c.455G>T (p.Arg152Leu) c.620G>T (p.Arg207Leu) c.674G>T (p.Arg225Leu) | ClinVar dbSNP |
2 | g.98389718del | CA2660314954 | CNGA3 | c.510del (p.Trp171GlyfsTer2) n.515del c.522del (p.Trp175GlyfsTer2) c.456del (p.Trp153GlyfsTer2) c.621del (p.Trp208GlyfsTer2) c.675del (p.Trp226GlyfsTer2) | gnomAD v4 |
2 | g.98389718C>A | CA427567076 | CNGA3 | c.510C>A (p.Arg170=) n.515C>A c.522C>A (p.Arg174=) c.456C>A (p.Arg152=) c.621C>A (p.Arg207=) c.675C>A (p.Arg225=) | |
2 | g.98389718C>G | CA427567078 | CNGA3 | c.510C>G (p.Arg170=) n.515C>G c.522C>G (p.Arg174=) c.456C>G (p.Arg152=) c.621C>G (p.Arg207=) c.675C>G (p.Arg225=) | |
2 | g.98389718C>T | CA427567077 | CNGA3 | c.510C>T (p.Arg170=) n.515C>T c.522C>T (p.Arg174=) c.456C>T (p.Arg152=) c.621C>T (p.Arg207=) c.675C>T (p.Arg225=) | |
2 | g.98389719T>A | CA347831538 | CNGA3 | c.511T>A (p.Trp171Arg) n.516T>A c.523T>A (p.Trp175Arg) c.457T>A (p.Trp153Arg) c.622T>A (p.Trp208Arg) c.676T>A (p.Trp226Arg) | |
2 | g.98389719T>C | CA347831539 | CNGA3 | c.511T>C (p.Trp171Arg) n.516T>C c.523T>C (p.Trp175Arg) c.457T>C (p.Trp153Arg) c.622T>C (p.Trp208Arg) c.676T>C (p.Trp226Arg) | |
2 | g.98389719T>G | CA347831540 | CNGA3 | c.511T>G (p.Trp171Gly) n.516T>G c.523T>G (p.Trp175Gly) c.457T>G (p.Trp153Gly) c.622T>G (p.Trp208Gly) c.676T>G (p.Trp226Gly) | |
2 | g.98389720G>A | CA347831543 | CNGA3 | c.512G>A (p.Trp171Ter) n.517G>A c.524G>A (p.Trp175Ter) c.458G>A (p.Trp153Ter) c.623G>A (p.Trp208Ter) c.677G>A (p.Trp226Ter) | gnomAD v4 |
2 | g.98389720G>C | CA347831541 | CNGA3 | c.512G>C (p.Trp171Ser) n.517G>C c.524G>C (p.Trp175Ser) c.458G>C (p.Trp153Ser) c.623G>C (p.Trp208Ser) c.677G>C (p.Trp226Ser) | |
2 | g.98389720G>T | CA347831542 | CNGA3 | c.512G>T (p.Trp171Leu) n.517G>T c.524G>T (p.Trp175Leu) c.458G>T (p.Trp153Leu) c.623G>T (p.Trp208Leu) c.677G>T (p.Trp226Leu) | |
2 | g.98389721G>A | CA347831544 | CNGA3 | c.513G>A (p.Trp171Ter) n.518G>A c.525G>A (p.Trp175Ter) c.459G>A (p.Trp153Ter) c.624G>A (p.Trp208Ter) c.678G>A (p.Trp226Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389721G>C | CA347831545 | CNGA3 | c.513G>C (p.Trp171Cys) n.518G>C c.525G>C (p.Trp175Cys) c.459G>C (p.Trp153Cys) c.624G>C (p.Trp208Cys) c.678G>C (p.Trp226Cys) | |
2 | g.98389721G= | CA1273416684 | CNGA3 | c.513G= (p.Trp171=) n.518G= c.525G= (p.Trp175=) c.459G= (p.Trp153=) c.624G= (p.Trp208=) c.678G= (p.Trp226=) | |
2 | g.98389721G>T | CA1793779 | CNGA3 | c.513G>T (p.Trp171Cys) n.518G>T c.525G>T (p.Trp175Cys) c.459G>T (p.Trp153Cys) c.624G>T (p.Trp208Cys) c.678G>T (p.Trp226Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98389722_98389724del | CA2660314955 | CNGA3 | c.514_516del (p.Leu172del) n.519_521del c.526_528del (p.Leu176del) c.460_462del (p.Leu154del) c.625_627del (p.Leu209del) c.679_681del (p.Leu227del) | gnomAD v4 |
2 | g.98389722C>A | CA347831546 | CNGA3 | c.514C>A (p.Leu172Met) n.519C>A c.526C>A (p.Leu176Met) c.460C>A (p.Leu154Met) c.625C>A (p.Leu209Met) c.679C>A (p.Leu227Met) | |
2 | g.98389722C= | CA1273416685 | CNGA3 | c.514C= (p.Leu172=) n.519C= c.526C= (p.Leu176=) c.460C= (p.Leu154=) c.625C= (p.Leu209=) c.679C= (p.Leu227=) | |
2 | g.98389722C>G | CA52624119 | CNGA3 | c.514C>G (p.Leu172Val) n.519C>G c.526C>G (p.Leu176Val) c.460C>G (p.Leu154Val) c.625C>G (p.Leu209Val) c.679C>G (p.Leu227Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.98389722C>T | CA427567079 | CNGA3 | c.514C>T (p.Leu172=) n.519C>T c.526C>T (p.Leu176=) c.460C>T (p.Leu154=) c.625C>T (p.Leu209=) c.679C>T (p.Leu227=) | gnomAD v4 |
2 | g.98389723T>A | CA347831547 | CNGA3 | c.515T>A (p.Leu172Gln) n.520T>A c.527T>A (p.Leu176Gln) c.461T>A (p.Leu154Gln) c.626T>A (p.Leu209Gln) c.680T>A (p.Leu227Gln) | |
2 | g.98389723T>C | CA347831549 | CNGA3 | c.515T>C (p.Leu172Pro) n.520T>C c.527T>C (p.Leu176Pro) c.461T>C (p.Leu154Pro) c.626T>C (p.Leu209Pro) c.680T>C (p.Leu227Pro) | COSMIC |
2 | g.98389723T>G | CA347831548 | CNGA3 | c.515T>G (p.Leu172Arg) n.520T>G c.527T>G (p.Leu176Arg) c.461T>G (p.Leu154Arg) c.626T>G (p.Leu209Arg) c.680T>G (p.Leu227Arg) | |
2 | g.98389724G>A | CA427567080 | CNGA3 | c.516G>A (p.Leu172=) n.521G>A c.528G>A (p.Leu176=) c.462G>A (p.Leu154=) c.627G>A (p.Leu209=) c.681G>A (p.Leu227=) | |
2 | g.98389724G>C | CA427567081 | CNGA3 | c.516G>C (p.Leu172=) n.521G>C c.528G>C (p.Leu176=) c.462G>C (p.Leu154=) c.627G>C (p.Leu209=) c.681G>C (p.Leu227=) | |
2 | g.98389724G>T | CA427567082 | CNGA3 | c.516G>T (p.Leu172=) n.521G>T c.528G>T (p.Leu176=) c.462G>T (p.Leu154=) c.627G>T (p.Leu209=) c.681G>T (p.Leu227=) | |
2 | g.98389725A= | CA1273416686 | CNGA3 | c.517A= (p.Thr173=) n.522A= c.529A= (p.Thr177=) c.463A= (p.Thr155=) c.628A= (p.Thr210=) c.682A= (p.Thr228=) | |
2 | g.98389725A>C | CA347831550 | CNGA3 | c.517A>C (p.Thr173Pro) n.522A>C c.529A>C (p.Thr177Pro) c.463A>C (p.Thr155Pro) c.628A>C (p.Thr210Pro) c.682A>C (p.Thr228Pro) | dbSNP |
2 | g.98389725A>G | CA347831551 | CNGA3 | c.517A>G (p.Thr173Ala) n.522A>G c.529A>G (p.Thr177Ala) c.463A>G (p.Thr155Ala) c.628A>G (p.Thr210Ala) c.682A>G (p.Thr228Ala) | |
2 | g.98389725A>T | CA347831552 | CNGA3 | c.517A>T (p.Thr173Ser) n.522A>T c.529A>T (p.Thr177Ser) c.463A>T (p.Thr155Ser) c.628A>T (p.Thr210Ser) c.682A>T (p.Thr228Ser) | |
2 | g.98389726C>A | CA347831553 | CNGA3 | c.518C>A (p.Thr173Asn) n.523C>A c.530C>A (p.Thr177Asn) c.464C>A (p.Thr155Asn) c.629C>A (p.Thr210Asn) c.683C>A (p.Thr228Asn) | |
2 | g.98389726C>G | CA347831554 | CNGA3 | c.518C>G (p.Thr173Ser) n.523C>G c.530C>G (p.Thr177Ser) c.464C>G (p.Thr155Ser) c.629C>G (p.Thr210Ser) c.683C>G (p.Thr228Ser) | |
2 | g.98389726C>T | CA347831555 | CNGA3 | c.518C>T (p.Thr173Ile) n.523C>T c.530C>T (p.Thr177Ile) c.464C>T (p.Thr155Ile) c.629C>T (p.Thr210Ile) c.683C>T (p.Thr228Ile) | |
2 | g.98389727C>A | CA427567083 | CNGA3 | c.519C>A (p.Thr173=) n.524C>A c.531C>A (p.Thr177=) c.465C>A (p.Thr155=) c.630C>A (p.Thr210=) c.684C>A (p.Thr228=) | |
2 | g.98389727C= | CA1273416687 | CNGA3 | c.519C= (p.Thr173=) n.524C= c.531C= (p.Thr177=) c.465C= (p.Thr155=) c.630C= (p.Thr210=) c.684C= (p.Thr228=) | |
2 | g.98389727C>G | CA427567084 | CNGA3 | c.519C>G (p.Thr173=) n.524C>G c.531C>G (p.Thr177=) c.465C>G (p.Thr155=) c.630C>G (p.Thr210=) c.684C>G (p.Thr228=) | ClinVar gnomAD v4 |
2 | g.98389727C>T | CA1793780 | CNGA3 | c.519C>T (p.Thr173=) n.524C>T c.531C>T (p.Thr177=) c.465C>T (p.Thr155=) c.630C>T (p.Thr210=) c.684C>T (p.Thr228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98389727_98389728delinsCG | CA1273416688 | CNGA3 | c.519_520delinsCG (p.Thr173=) n.524_525delinsCG c.531_532delinsCG (p.Thr177=) c.465_466delinsCG (p.Thr155=) c.630_631delinsCG (p.Thr210=) c.684_685delinsCG (p.Thr228=) | |
2 | g.98389728del | CA1273416689 | CNGA3 | c.520del (p.Ala174ProfsTer27) n.525del c.532del (p.Ala178ProfsTer27) c.466del (p.Ala156ProfsTer27) c.631del (p.Ala211ProfsTer27) c.685del (p.Ala229ProfsTer27) | ClinVar dbSNP |
2 | g.98389728G>A | CA52624128 | CNGA3 | c.520G>A (p.Ala174Thr) n.525G>A c.532G>A (p.Ala178Thr) c.466G>A (p.Ala156Thr) c.631G>A (p.Ala211Thr) c.685G>A (p.Ala229Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.98389728G>C | CA347831556 | CNGA3 | c.520G>C (p.Ala174Pro) n.525G>C c.532G>C (p.Ala178Pro) c.466G>C (p.Ala156Pro) c.631G>C (p.Ala211Pro) c.685G>C (p.Ala229Pro) | |
2 | g.98389728G= | CA1273416690 | CNGA3 | c.520G= (p.Ala174=) n.525G= c.532G= (p.Ala178=) c.466G= (p.Ala156=) c.631G= (p.Ala211=) c.685G= (p.Ala229=) | |
2 | g.98389728G>T | CA347831557 | CNGA3 | c.520G>T (p.Ala174Ser) n.525G>T c.532G>T (p.Ala178Ser) c.466G>T (p.Ala156Ser) c.631G>T (p.Ala211Ser) c.685G>T (p.Ala229Ser) | |
2 | g.98389728_98389729insGT | CA2660314956 | CNGA3 | c.520_521insGT (p.Ala174GlyfsTer28) n.525_526insGT c.532_533insGT (p.Ala178GlyfsTer28) c.466_467insGT (p.Ala156GlyfsTer28) c.631_632insGT (p.Ala211GlyfsTer28) c.685_686insGT (p.Ala229GlyfsTer28) | gnomAD v4 |
2 | g.98389729C>A | CA347831558 | CNGA3 | c.521C>A (p.Ala174Asp) n.526C>A c.533C>A (p.Ala178Asp) c.467C>A (p.Ala156Asp) c.632C>A (p.Ala211Asp) c.686C>A (p.Ala229Asp) | |
2 | g.98389729C>G | CA347831559 | CNGA3 | c.521C>G (p.Ala174Gly) n.526C>G c.533C>G (p.Ala178Gly) c.467C>G (p.Ala156Gly) c.632C>G (p.Ala211Gly) c.686C>G (p.Ala229Gly) | |
2 | g.98389729C>T | CA347831560 | CNGA3 | c.521C>T (p.Ala174Val) n.526C>T c.533C>T (p.Ala178Val) c.467C>T (p.Ala156Val) c.632C>T (p.Ala211Val) c.686C>T (p.Ala229Val) | |
2 | g.98389730C>A | CA427567085 | CNGA3 | c.522C>A (p.Ala174=) n.527C>A c.534C>A (p.Ala178=) c.468C>A (p.Ala156=) c.633C>A (p.Ala211=) c.687C>A (p.Ala229=) | |
2 | g.98389730C>G | CA427567086 | CNGA3 | c.522C>G (p.Ala174=) n.527C>G c.534C>G (p.Ala178=) c.468C>G (p.Ala156=) c.633C>G (p.Ala211=) c.687C>G (p.Ala229=) | |
2 | g.98389730C>T | CA427567087 | CNGA3 | c.522C>T (p.Ala174=) n.527C>T c.534C>T (p.Ala178=) c.468C>T (p.Ala156=) c.633C>T (p.Ala211=) c.687C>T (p.Ala229=) | |
2 | g.98389731del | CA2660314957 | CNGA3 | c.523del (p.Ile175SerfsTer26) n.528del c.535del (p.Ile179SerfsTer26) c.469del (p.Ile157SerfsTer26) c.634del (p.Ile212SerfsTer26) c.688del (p.Ile230SerfsTer26) | gnomAD v4 |
2 | g.98389731A= | CA1273416691 | CNGA3 | c.523A= (p.Ile175=) n.528A= c.535A= (p.Ile179=) c.469A= (p.Ile157=) c.634A= (p.Ile212=) c.688A= (p.Ile230=) | |
2 | g.98389731A>C | CA347831562 | CNGA3 | c.523A>C (p.Ile175Leu) n.528A>C c.535A>C (p.Ile179Leu) c.469A>C (p.Ile157Leu) c.634A>C (p.Ile212Leu) c.688A>C (p.Ile230Leu) | |
2 | g.98389731A>G | CA347831563 | CNGA3 | c.523A>G (p.Ile175Val) n.528A>G c.535A>G (p.Ile179Val) c.469A>G (p.Ile157Val) c.634A>G (p.Ile212Val) c.688A>G (p.Ile230Val) | dbSNP gnomAD v4 |
2 | g.98389731A>T | CA347831561 | CNGA3 | c.523A>T (p.Ile175Phe) n.528A>T c.535A>T (p.Ile179Phe) c.469A>T (p.Ile157Phe) c.634A>T (p.Ile212Phe) c.688A>T (p.Ile230Phe) | |
2 | g.98389732T>A | CA347831565 | CNGA3 | c.524T>A (p.Ile175Asn) n.529T>A c.536T>A (p.Ile179Asn) c.470T>A (p.Ile157Asn) c.635T>A (p.Ile212Asn) c.689T>A (p.Ile230Asn) | |
2 | g.98389732T>C | CA347831564 | CNGA3 | c.524T>C (p.Ile175Thr) n.529T>C c.536T>C (p.Ile179Thr) c.470T>C (p.Ile157Thr) c.635T>C (p.Ile212Thr) c.689T>C (p.Ile230Thr) | ClinVar dbSNP |
2 | g.98389732T>G | CA347831566 | CNGA3 | c.524T>G (p.Ile175Ser) n.529T>G c.536T>G (p.Ile179Ser) c.470T>G (p.Ile157Ser) c.635T>G (p.Ile212Ser) c.689T>G (p.Ile230Ser) | |
2 | g.98389733C>A | CA427567088 | CNGA3 | c.525C>A (p.Ile175=) n.530C>A c.537C>A (p.Ile179=) c.471C>A (p.Ile157=) c.636C>A (p.Ile212=) c.690C>A (p.Ile230=) | |
2 | g.98389733C= | CA1273416692 | CNGA3 | c.525C= (p.Ile175=) n.530C= c.537C= (p.Ile179=) c.471C= (p.Ile157=) c.636C= (p.Ile212=) c.690C= (p.Ile230=) | |
2 | g.98389733C>G | CA347831567 | CNGA3 | c.525C>G (p.Ile175Met) n.530C>G c.537C>G (p.Ile179Met) c.471C>G (p.Ile157Met) c.636C>G (p.Ile212Met) c.690C>G (p.Ile230Met) | |
2 | g.98389733C>T | CA1793781 | CNGA3 | c.525C>T (p.Ile175=) n.530C>T c.537C>T (p.Ile179=) c.471C>T (p.Ile157=) c.636C>T (p.Ile212=) c.690C>T (p.Ile230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98389733_98389734insCT | CA2660314958 | CNGA3 | c.525_526insCT (p.Ala176LeufsTer26) n.530_531insCT c.537_538insCT (p.Ala180LeufsTer26) c.471_472insCT (p.Ala158LeufsTer26) c.636_637insCT (p.Ala213LeufsTer26) c.690_691insCT (p.Ala231LeufsTer26) | gnomAD v4 |
2 | g.98389734G>A | CA347831568 | CNGA3 | c.526G>A (p.Ala176Thr) n.531G>A c.538G>A (p.Ala180Thr) c.472G>A (p.Ala158Thr) c.637G>A (p.Ala213Thr) c.691G>A (p.Ala231Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98389734G>C | CA347831569 | CNGA3 | c.526G>C (p.Ala176Pro) n.531G>C c.538G>C (p.Ala180Pro) c.472G>C (p.Ala158Pro) c.637G>C (p.Ala213Pro) c.691G>C (p.Ala231Pro) | gnomAD v4 |
2 | g.98389734G= | CA1273416693 | CNGA3 | c.526G= (p.Ala176=) n.531G= c.538G= (p.Ala180=) c.472G= (p.Ala158=) c.637G= (p.Ala213=) c.691G= (p.Ala231=) | |
2 | g.98389734G>T | CA347831570 | CNGA3 | c.526G>T (p.Ala176Ser) n.531G>T c.538G>T (p.Ala180Ser) c.472G>T (p.Ala158Ser) c.637G>T (p.Ala213Ser) c.691G>T (p.Ala231Ser) | |
2 | g.98389735C>A | CA347831571 | CNGA3 | c.527C>A (p.Ala176Asp) n.532C>A c.539C>A (p.Ala180Asp) c.473C>A (p.Ala158Asp) c.638C>A (p.Ala213Asp) c.692C>A (p.Ala231Asp) | gnomAD v4 |
2 | g.98389735C= | CA1273416694 | CNGA3 | c.527C= (p.Ala176=) n.532C= c.539C= (p.Ala180=) c.473C= (p.Ala158=) c.638C= (p.Ala213=) c.692C= (p.Ala231=) | |
2 | g.98389735C>G | CA347831572 | CNGA3 | c.527C>G (p.Ala176Gly) n.532C>G c.539C>G (p.Ala180Gly) c.473C>G (p.Ala158Gly) c.638C>G (p.Ala213Gly) c.692C>G (p.Ala231Gly) | |
2 | g.98389735C>T | CA1793782 | CNGA3 | c.527C>T (p.Ala176Val) n.532C>T c.539C>T (p.Ala180Val) c.473C>T (p.Ala158Val) c.638C>T (p.Ala213Val) c.692C>T (p.Ala231Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98389736C>A | CA427567089 | CNGA3 | c.528C>A (p.Ala176=) n.533C>A c.540C>A (p.Ala180=) c.474C>A (p.Ala158=) c.639C>A (p.Ala213=) c.693C>A (p.Ala231=) | gnomAD v4 |
2 | g.98389736C>G | CA427567090 | CNGA3 | c.528C>G (p.Ala176=) n.533C>G c.540C>G (p.Ala180=) c.474C>G (p.Ala158=) c.639C>G (p.Ala213=) c.693C>G (p.Ala231=) | |
2 | g.98389736C>T | CA427567091 | CNGA3 | c.528C>T (p.Ala176=) n.533C>T c.540C>T (p.Ala180=) c.474C>T (p.Ala158=) c.639C>T (p.Ala213=) c.693C>T (p.Ala231=) | gnomAD v4 |
2 | g.98389737C>A | CA347831574 | CNGA3 | c.529C>A (p.Leu177Met) n.534C>A c.541C>A (p.Leu181Met) c.475C>A (p.Leu159Met) c.640C>A (p.Leu214Met) c.694C>A (p.Leu232Met) | |
2 | g.98389737C>G | CA347831573 | CNGA3 | c.529C>G (p.Leu177Val) n.534C>G c.541C>G (p.Leu181Val) c.475C>G (p.Leu159Val) c.640C>G (p.Leu214Val) c.694C>G (p.Leu232Val) | gnomAD v4 |
2 | g.98389737C>T | CA427567092 | CNGA3 | c.529C>T (p.Leu177=) n.534C>T c.541C>T (p.Leu181=) c.475C>T (p.Leu159=) c.640C>T (p.Leu214=) c.694C>T (p.Leu232=) | gnomAD v4 |
2 | g.98389738T>A | CA1793783 | CNGA3 | c.530T>A (p.Leu177Gln) n.535T>A c.542T>A (p.Leu181Gln) c.476T>A (p.Leu159Gln) c.641T>A (p.Leu214Gln) c.695T>A (p.Leu232Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98389738T>C | CA347831575 | CNGA3 | c.530T>C (p.Leu177Pro) n.535T>C c.542T>C (p.Leu181Pro) c.476T>C (p.Leu159Pro) c.641T>C (p.Leu214Pro) c.695T>C (p.Leu232Pro) | dbSNP gnomAD v4 |
2 | g.98389738T>G | CA347831576 | CNGA3 | c.530T>G (p.Leu177Arg) n.535T>G c.542T>G (p.Leu181Arg) c.476T>G (p.Leu159Arg) c.641T>G (p.Leu214Arg) c.695T>G (p.Leu232Arg) | |
2 | g.98389738T= | CA1273416695 | CNGA3 | c.530T= (p.Leu177=) n.535T= c.542T= (p.Leu181=) c.476T= (p.Leu159=) c.641T= (p.Leu214=) c.695T= (p.Leu232=) | |
2 | g.98389739G>A | CA427567093 | CNGA3 | c.531G>A (p.Leu177=) n.536G>A c.543G>A (p.Leu181=) c.477G>A (p.Leu159=) c.642G>A (p.Leu214=) c.696G>A (p.Leu232=) | |
2 | g.98389739G>C | CA427567094 | CNGA3 | c.531G>C (p.Leu177=) n.536G>C c.543G>C (p.Leu181=) c.477G>C (p.Leu159=) c.642G>C (p.Leu214=) c.696G>C (p.Leu232=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389739G= | CA1273416696 | CNGA3 | c.531G= (p.Leu177=) n.536G= c.543G= (p.Leu181=) c.477G= (p.Leu159=) c.642G= (p.Leu214=) c.696G= (p.Leu232=) | |
2 | g.98389739G>T | CA427567095 | CNGA3 | c.531G>T (p.Leu177=) n.536G>T c.543G>T (p.Leu181=) c.477G>T (p.Leu159=) c.642G>T (p.Leu214=) c.696G>T (p.Leu232=) | |
2 | g.98389740C>A | CA347831577 | CNGA3 | c.532C>A (p.Pro178Thr) n.537C>A c.544C>A (p.Pro182Thr) c.478C>A (p.Pro160Thr) c.643C>A (p.Pro215Thr) c.697C>A (p.Pro233Thr) | |
2 | g.98389740C= | CA1273416697 | CNGA3 | c.532C= (p.Pro178=) n.537C= c.544C= (p.Pro182=) c.478C= (p.Pro160=) c.643C= (p.Pro215=) c.697C= (p.Pro233=) | |
2 | g.98389740C>G | CA347831578 | CNGA3 | c.532C>G (p.Pro178Ala) n.537C>G c.544C>G (p.Pro182Ala) c.478C>G (p.Pro160Ala) c.643C>G (p.Pro215Ala) c.697C>G (p.Pro233Ala) | |
2 | g.98389740C>T | CA1793784 | CNGA3 | c.532C>T (p.Pro178Ser) n.537C>T c.544C>T (p.Pro182Ser) c.478C>T (p.Pro160Ser) c.643C>T (p.Pro215Ser) c.697C>T (p.Pro233Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389741C>A | CA347831579 | CNGA3 | c.533C>A (p.Pro178His) n.538C>A c.545C>A (p.Pro182His) c.479C>A (p.Pro160His) c.644C>A (p.Pro215His) c.698C>A (p.Pro233His) | |
2 | g.98389741C>G | CA347831581 | CNGA3 | c.533C>G (p.Pro178Arg) n.538C>G c.545C>G (p.Pro182Arg) c.479C>G (p.Pro160Arg) c.644C>G (p.Pro215Arg) c.698C>G (p.Pro233Arg) | |
2 | g.98389741C>T | CA347831580 | CNGA3 | c.533C>T (p.Pro178Leu) n.538C>T c.545C>T (p.Pro182Leu) c.479C>T (p.Pro160Leu) c.644C>T (p.Pro215Leu) c.698C>T (p.Pro233Leu) | |
2 | g.98389742T>A | CA427567096 | CNGA3 | c.534T>A (p.Pro178=) n.539T>A c.546T>A (p.Pro182=) c.480T>A (p.Pro160=) c.645T>A (p.Pro215=) c.699T>A (p.Pro233=) | |
2 | g.98389742T>C | CA427567097 | CNGA3 | c.534T>C (p.Pro178=) n.539T>C c.546T>C (p.Pro182=) c.480T>C (p.Pro160=) c.645T>C (p.Pro215=) c.699T>C (p.Pro233=) | |
2 | g.98389742T>G | CA427567098 | CNGA3 | c.534T>G (p.Pro178=) n.539T>G c.546T>G (p.Pro182=) c.480T>G (p.Pro160=) c.645T>G (p.Pro215=) c.699T>G (p.Pro233=) | |
2 | g.98389743G>A | CA347831582 | CNGA3 | c.535G>A (p.Val179Ile) n.540G>A c.547G>A (p.Val183Ile) c.481G>A (p.Val161Ile) c.646G>A (p.Val216Ile) c.700G>A (p.Val234Ile) | |
2 | g.98389743G>C | CA347831583 | CNGA3 | c.535G>C (p.Val179Leu) n.540G>C c.547G>C (p.Val183Leu) c.481G>C (p.Val161Leu) c.646G>C (p.Val216Leu) c.700G>C (p.Val234Leu) | |
2 | g.98389743G>T | CA347831584 | CNGA3 | c.535G>T (p.Val179Phe) n.540G>T c.547G>T (p.Val183Phe) c.481G>T (p.Val161Phe) c.646G>T (p.Val216Phe) c.700G>T (p.Val234Phe) | ClinVar dbSNP |
2 | g.98389744T>A | CA347831585 | CNGA3 | c.536T>A (p.Val179Asp) n.541T>A c.548T>A (p.Val183Asp) c.482T>A (p.Val161Asp) c.647T>A (p.Val216Asp) c.701T>A (p.Val234Asp) | gnomAD v4 |
2 | g.98389744T>C | CA347831586 | CNGA3 | c.536T>C (p.Val179Ala) n.541T>C c.548T>C (p.Val183Ala) c.482T>C (p.Val161Ala) c.647T>C (p.Val216Ala) c.701T>C (p.Val234Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.98389744T>G | CA347831587 | CNGA3 | c.536T>G (p.Val179Gly) n.541T>G c.548T>G (p.Val183Gly) c.482T>G (p.Val161Gly) c.647T>G (p.Val216Gly) c.701T>G (p.Val234Gly) | |
2 | g.98389744T= | CA1273416698 | CNGA3 | c.536T= (p.Val179=) n.541T= c.548T= (p.Val183=) c.482T= (p.Val161=) c.647T= (p.Val216=) c.701T= (p.Val234=) | |
2 | g.98389745C>A | CA427567099 | CNGA3 | c.537C>A (p.Val179=) n.542C>A c.549C>A (p.Val183=) c.483C>A (p.Val161=) c.648C>A (p.Val216=) c.702C>A (p.Val234=) | |
2 | g.98389745C>G | CA427567100 | CNGA3 | c.537C>G (p.Val179=) n.542C>G c.549C>G (p.Val183=) c.483C>G (p.Val161=) c.648C>G (p.Val216=) c.702C>G (p.Val234=) | |
2 | g.98389745C>T | CA427567101 | CNGA3 | c.537C>T (p.Val179=) n.542C>T c.549C>T (p.Val183=) c.483C>T (p.Val161=) c.648C>T (p.Val216=) c.702C>T (p.Val234=) | |
2 | g.98389746T>A | CA347831588 | CNGA3 | c.538T>A (p.Phe180Ile) n.543T>A c.550T>A (p.Phe184Ile) c.484T>A (p.Phe162Ile) c.649T>A (p.Phe217Ile) c.703T>A (p.Phe235Ile) | |
2 | g.98389746T>C | CA347831589 | CNGA3 | c.538T>C (p.Phe180Leu) n.543T>C c.550T>C (p.Phe184Leu) c.484T>C (p.Phe162Leu) c.649T>C (p.Phe217Leu) c.703T>C (p.Phe235Leu) | |
2 | g.98389746T>G | CA347831590 | CNGA3 | c.538T>G (p.Phe180Val) n.543T>G c.550T>G (p.Phe184Val) c.484T>G (p.Phe162Val) c.649T>G (p.Phe217Val) c.703T>G (p.Phe235Val) | |
2 | g.98389747T>A | CA347831591 | CNGA3 | c.539T>A (p.Phe180Tyr) n.544T>A c.551T>A (p.Phe184Tyr) c.485T>A (p.Phe162Tyr) c.650T>A (p.Phe217Tyr) c.704T>A (p.Phe235Tyr) | |
2 | g.98389747T>C | CA347831592 | CNGA3 | c.539T>C (p.Phe180Ser) n.544T>C c.551T>C (p.Phe184Ser) c.485T>C (p.Phe162Ser) c.650T>C (p.Phe217Ser) c.704T>C (p.Phe235Ser) | |
2 | g.98389747T>G | CA347831593 | CNGA3 | c.539T>G (p.Phe180Cys) n.544T>G c.551T>G (p.Phe184Cys) c.485T>G (p.Phe162Cys) c.650T>G (p.Phe217Cys) c.704T>G (p.Phe235Cys) | |
2 | g.98389748C>A | CA347831594 | CNGA3 | c.540C>A (p.Phe180Leu) n.545C>A c.552C>A (p.Phe184Leu) c.486C>A (p.Phe162Leu) c.651C>A (p.Phe217Leu) c.705C>A (p.Phe235Leu) | |
2 | g.98389748C= | CA1273416699 | CNGA3 | c.540C= (p.Phe180=) n.545C= c.552C= (p.Phe184=) c.486C= (p.Phe162=) c.651C= (p.Phe217=) c.705C= (p.Phe235=) | |
2 | g.98389748C>G | CA347831595 | CNGA3 | c.540C>G (p.Phe180Leu) n.545C>G c.552C>G (p.Phe184Leu) c.486C>G (p.Phe162Leu) c.651C>G (p.Phe217Leu) c.705C>G (p.Phe235Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98389748C>T | CA427567102 | CNGA3 | c.540C>T (p.Phe180=) n.545C>T c.552C>T (p.Phe184=) c.486C>T (p.Phe162=) c.651C>T (p.Phe217=) c.705C>T (p.Phe235=) | gnomAD v4 |
2 | g.98389749T>A | CA347831596 | CNGA3 | c.541T>A (p.Tyr181Asn) n.546T>A c.553T>A (p.Tyr185Asn) c.487T>A (p.Tyr163Asn) c.652T>A (p.Tyr218Asn) c.706T>A (p.Tyr236Asn) | |
2 | g.98389749T>C | CA347831598 | CNGA3 | c.541T>C (p.Tyr181His) n.546T>C c.553T>C (p.Tyr185His) c.487T>C (p.Tyr163His) c.652T>C (p.Tyr218His) c.706T>C (p.Tyr236His) | ClinVar |
2 | g.98389749T>G | CA347831597 | CNGA3 | c.541T>G (p.Tyr181Asp) n.546T>G c.553T>G (p.Tyr185Asp) c.487T>G (p.Tyr163Asp) c.652T>G (p.Tyr218Asp) c.706T>G (p.Tyr236Asp) | |
2 | g.98389750A= | CA1273416700 | CNGA3 | c.542A= (p.Tyr181=) n.547A= c.554A= (p.Tyr185=) c.488A= (p.Tyr163=) c.653A= (p.Tyr218=) c.707A= (p.Tyr236=) | |
2 | g.98389750A>C | CA347831599 | CNGA3 | c.542A>C (p.Tyr181Ser) n.547A>C c.554A>C (p.Tyr185Ser) c.488A>C (p.Tyr163Ser) c.653A>C (p.Tyr218Ser) c.707A>C (p.Tyr236Ser) | |
2 | g.98389750A>G | CA347831600 | CNGA3 | c.542A>G (p.Tyr181Cys) n.547A>G c.554A>G (p.Tyr185Cys) c.488A>G (p.Tyr163Cys) c.653A>G (p.Tyr218Cys) c.707A>G (p.Tyr236Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.98389750A>T | CA347831601 | CNGA3 | c.542A>T (p.Tyr181Phe) n.547A>T c.554A>T (p.Tyr185Phe) c.488A>T (p.Tyr163Phe) c.653A>T (p.Tyr218Phe) c.707A>T (p.Tyr236Phe) | |
2 | g.98389750_98389754del | CA2660314959 | CNGA3 | c.542_546del (p.Tyr181LeufsTer12) n.547_551del c.554_558del (p.Tyr185LeufsTer12) c.488_492del (p.Tyr163LeufsTer12) c.653_657del (p.Tyr218LeufsTer12) c.707_711del (p.Tyr236LeufsTer12) | gnomAD v4 |
2 | g.98389751T>A | CA347831602 | CNGA3 | c.543T>A (p.Tyr181Ter) n.548T>A c.555T>A (p.Tyr185Ter) c.489T>A (p.Tyr163Ter) c.654T>A (p.Tyr218Ter) c.708T>A (p.Tyr236Ter) | |
2 | g.98389751T>C | CA1793785 | CNGA3 | c.543T>C (p.Tyr181=) n.548T>C c.555T>C (p.Tyr185=) c.489T>C (p.Tyr163=) c.654T>C (p.Tyr218=) c.708T>C (p.Tyr236=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98389751T>G | CA347831603 | CNGA3 | c.543T>G (p.Tyr181Ter) n.548T>G c.555T>G (p.Tyr185Ter) c.489T>G (p.Tyr163Ter) c.654T>G (p.Tyr218Ter) c.708T>G (p.Tyr236Ter) | |
2 | g.98389751T= | CA1273416701 | CNGA3 | c.543T= (p.Tyr181=) n.548T= c.555T= (p.Tyr185=) c.489T= (p.Tyr163=) c.654T= (p.Tyr218=) c.708T= (p.Tyr236=) | |
2 | g.98389752A>C | CA347831604 | CNGA3 | c.544A>C (p.Asn182His) n.549A>C c.556A>C (p.Asn186His) c.490A>C (p.Asn164His) c.655A>C (p.Asn219His) c.709A>C (p.Asn237His) | |
2 | g.98389752A>G | CA347831605 | CNGA3 | c.544A>G (p.Asn182Asp) n.549A>G c.556A>G (p.Asn186Asp) c.490A>G (p.Asn164Asp) c.655A>G (p.Asn219Asp) c.709A>G (p.Asn237Asp) | ClinVar dbSNP |
2 | g.98389752A>T | CA347831606 | CNGA3 | c.544A>T (p.Asn182Tyr) n.549A>T c.556A>T (p.Asn186Tyr) c.490A>T (p.Asn164Tyr) c.655A>T (p.Asn219Tyr) c.709A>T (p.Asn237Tyr) | |
2 | g.98389753del | CA2660314960 | CNGA3 | c.545del (p.Asn182ThrfsTer19) n.550del c.557del (p.Asn186ThrfsTer19) c.491del (p.Asn164ThrfsTer19) c.656del (p.Asn219ThrfsTer19) c.710del (p.Asn237ThrfsTer19) | gnomAD v4 |
2 | g.98389753A>C | CA347831607 | CNGA3 | c.545A>C (p.Asn182Thr) n.550A>C c.557A>C (p.Asn186Thr) c.491A>C (p.Asn164Thr) c.656A>C (p.Asn219Thr) c.710A>C (p.Asn237Thr) | |
2 | g.98389753A>G | CA347831608 | CNGA3 | c.545A>G (p.Asn182Ser) n.550A>G c.557A>G (p.Asn186Ser) c.491A>G (p.Asn164Ser) c.656A>G (p.Asn219Ser) c.710A>G (p.Asn237Ser) | ClinVar dbSNP |
2 | g.98389753A>T | CA347831609 | CNGA3 | c.545A>T (p.Asn182Ile) n.550A>T c.557A>T (p.Asn186Ile) c.491A>T (p.Asn164Ile) c.656A>T (p.Asn219Ile) c.710A>T (p.Asn237Ile) | |
2 | g.98389754C>A | CA347831610 | CNGA3 | c.546C>A (p.Asn182Lys) n.551C>A c.558C>A (p.Asn186Lys) c.492C>A (p.Asn164Lys) c.657C>A (p.Asn219Lys) c.711C>A (p.Asn237Lys) | |
2 | g.98389754C>G | CA347831611 | CNGA3 | c.546C>G (p.Asn182Lys) n.551C>G c.558C>G (p.Asn186Lys) c.492C>G (p.Asn164Lys) c.657C>G (p.Asn219Lys) c.711C>G (p.Asn237Lys) | |
2 | g.98389754C>T | CA427567103 | CNGA3 | c.546C>T (p.Asn182=) n.551C>T c.558C>T (p.Asn186=) c.492C>T (p.Asn164=) c.657C>T (p.Asn219=) c.711C>T (p.Asn237=) | |
2 | g.98389755T>A | CA347831612 | CNGA3 | c.547T>A (p.Trp183Arg) n.552T>A c.559T>A (p.Trp187Arg) c.493T>A (p.Trp165Arg) c.658T>A (p.Trp220Arg) c.712T>A (p.Trp238Arg) | |
2 | g.98389755T>C | CA347831613 | CNGA3 | c.547T>C (p.Trp183Arg) n.552T>C c.559T>C (p.Trp187Arg) c.493T>C (p.Trp165Arg) c.658T>C (p.Trp220Arg) c.712T>C (p.Trp238Arg) | gnomAD v4 |
2 | g.98389755T>G | CA347831614 | CNGA3 | c.547T>G (p.Trp183Gly) n.552T>G c.559T>G (p.Trp187Gly) c.493T>G (p.Trp165Gly) c.658T>G (p.Trp220Gly) c.712T>G (p.Trp238Gly) | |
2 | g.98389756G>A | CA16621756 | CNGA3 | c.548G>A (p.Trp183Ter) n.553G>A c.560G>A (p.Trp187Ter) c.494G>A (p.Trp165Ter) c.659G>A (p.Trp220Ter) c.713G>A (p.Trp238Ter) | ClinVar dbSNP |
2 | g.98389756G>C | CA347831615 | CNGA3 | c.548G>C (p.Trp183Ser) n.553G>C c.560G>C (p.Trp187Ser) c.494G>C (p.Trp165Ser) c.659G>C (p.Trp220Ser) c.713G>C (p.Trp238Ser) | |
2 | g.98389756G= | CA1273416702 | CNGA3 | c.548G= (p.Trp183=) n.553G= c.560G= (p.Trp187=) c.494G= (p.Trp165=) c.659G= (p.Trp220=) c.713G= (p.Trp238=) | |
2 | g.98389756G>T | CA347831616 | CNGA3 | c.548G>T (p.Trp183Leu) n.553G>T c.560G>T (p.Trp187Leu) c.494G>T (p.Trp165Leu) c.659G>T (p.Trp220Leu) c.713G>T (p.Trp238Leu) | |
2 | g.98389757G>A | CA347831617 | CNGA3 | c.549G>A (p.Trp183Ter) n.554G>A c.561G>A (p.Trp187Ter) c.495G>A (p.Trp165Ter) c.660G>A (p.Trp220Ter) c.714G>A (p.Trp238Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.98389757G>C | CA347831618 | CNGA3 | c.549G>C (p.Trp183Cys) n.554G>C c.561G>C (p.Trp187Cys) c.495G>C (p.Trp165Cys) c.660G>C (p.Trp220Cys) c.714G>C (p.Trp238Cys) | |
2 | g.98389757G= | CA1273416703 | CNGA3 | c.549G= (p.Trp183=) n.554G= c.561G= (p.Trp187=) c.495G= (p.Trp165=) c.660G= (p.Trp220=) c.714G= (p.Trp238=) | |
2 | g.98389757G>T | CA347831619 | CNGA3 | c.549G>T (p.Trp183Cys) n.554G>T c.561G>T (p.Trp187Cys) c.495G>T (p.Trp165Cys) c.660G>T (p.Trp220Cys) c.714G>T (p.Trp238Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.98389758T>A | CA347831620 | CNGA3 | c.550T>A (p.Tyr184Asn) n.555T>A c.562T>A (p.Tyr188Asn) c.496T>A (p.Tyr166Asn) c.661T>A (p.Tyr221Asn) c.715T>A (p.Tyr239Asn) | |
2 | g.98389758T>C | CA347831621 | CNGA3 | c.550T>C (p.Tyr184His) n.555T>C c.562T>C (p.Tyr188His) c.496T>C (p.Tyr166His) c.661T>C (p.Tyr221His) c.715T>C (p.Tyr239His) | |
2 | g.98389758T>G | CA347831622 | CNGA3 | c.550T>G (p.Tyr184Asp) n.555T>G c.562T>G (p.Tyr188Asp) c.496T>G (p.Tyr166Asp) c.661T>G (p.Tyr221Asp) c.715T>G (p.Tyr239Asp) | |
2 | g.98389759A>C | CA347831623 | CNGA3 | c.551A>C (p.Tyr184Ser) n.556A>C c.563A>C (p.Tyr188Ser) c.497A>C (p.Tyr166Ser) c.662A>C (p.Tyr221Ser) c.716A>C (p.Tyr239Ser) | |
2 | g.98389759A>G | CA347831625 | CNGA3 | c.551A>G (p.Tyr184Cys) n.556A>G c.563A>G (p.Tyr188Cys) c.497A>G (p.Tyr166Cys) c.662A>G (p.Tyr221Cys) c.716A>G (p.Tyr239Cys) | dbSNP gnomAD v4 |
2 | g.98389759A>T | CA347831624 | CNGA3 | c.551A>T (p.Tyr184Phe) n.556A>T c.563A>T (p.Tyr188Phe) c.497A>T (p.Tyr166Phe) c.662A>T (p.Tyr221Phe) c.716A>T (p.Tyr239Phe) | |
2 | g.98389760T>A | CA347831626 | CNGA3 | c.552T>A (p.Tyr184Ter) n.557T>A c.564T>A (p.Tyr188Ter) c.498T>A (p.Tyr166Ter) c.663T>A (p.Tyr221Ter) c.717T>A (p.Tyr239Ter) | |
2 | g.98389760T>C | CA427567104 | CNGA3 | c.552T>C (p.Tyr184=) n.557T>C c.564T>C (p.Tyr188=) c.498T>C (p.Tyr166=) c.663T>C (p.Tyr221=) c.717T>C (p.Tyr239=) | |
2 | g.98389760T>G | CA347831627 | CNGA3 | c.552T>G (p.Tyr184Ter) n.557T>G c.564T>G (p.Tyr188Ter) c.498T>G (p.Tyr166Ter) c.663T>G (p.Tyr221Ter) c.717T>G (p.Tyr239Ter) | |
2 | g.98389761C>A | CA347831628 | CNGA3 | c.553C>A (p.Leu185Met) n.558C>A c.565C>A (p.Leu189Met) c.499C>A (p.Leu167Met) c.664C>A (p.Leu222Met) c.718C>A (p.Leu240Met) | |
2 | g.98389761C= | CA1273416704 | CNGA3 | c.553C= (p.Leu185=) n.558C= c.565C= (p.Leu189=) c.499C= (p.Leu167=) c.664C= (p.Leu222=) c.718C= (p.Leu240=) | |
2 | g.98389761C>G | CA1793786 | CNGA3 | c.553C>G (p.Leu185Val) n.558C>G c.565C>G (p.Leu189Val) c.499C>G (p.Leu167Val) c.664C>G (p.Leu222Val) c.718C>G (p.Leu240Val) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.98389761C>T | CA427567105 | CNGA3 | c.553C>T (p.Leu185=) n.558C>T c.565C>T (p.Leu189=) c.499C>T (p.Leu167=) c.664C>T (p.Leu222=) c.718C>T (p.Leu240=) | |
2 | g.98389762T>A | CA347831629 | CNGA3 | c.554T>A (p.Leu185Gln) n.559T>A c.566T>A (p.Leu189Gln) c.500T>A (p.Leu167Gln) c.665T>A (p.Leu222Gln) c.719T>A (p.Leu240Gln) | |
2 | g.98389762T>C | CA347831630 | CNGA3 | c.554T>C (p.Leu185Pro) n.559T>C c.566T>C (p.Leu189Pro) c.500T>C (p.Leu167Pro) c.665T>C (p.Leu222Pro) c.719T>C (p.Leu240Pro) | |
2 | g.98389762T>G | CA347831631 | CNGA3 | c.554T>G (p.Leu185Arg) n.559T>G c.566T>G (p.Leu189Arg) c.500T>G (p.Leu167Arg) c.665T>G (p.Leu222Arg) c.719T>G (p.Leu240Arg) | |
2 | g.98389763G>A | CA427567106 | CNGA3 | c.555G>A (p.Leu185=) n.560G>A c.567G>A (p.Leu189=) c.501G>A (p.Leu167=) c.666G>A (p.Leu222=) c.720G>A (p.Leu240=) | |
2 | g.98389763G>C | CA427567107 | CNGA3 | c.555G>C (p.Leu185=) n.560G>C c.567G>C (p.Leu189=) c.501G>C (p.Leu167=) c.666G>C (p.Leu222=) c.720G>C (p.Leu240=) | |
2 | g.98389763G>T | CA427567108 | CNGA3 | c.555G>T (p.Leu185=) n.560G>T c.567G>T (p.Leu189=) c.501G>T (p.Leu167=) c.666G>T (p.Leu222=) c.720G>T (p.Leu240=) | |
2 | g.98389764C>A | CA347831632 | CNGA3 | c.556C>A (p.Leu186Ile) n.561C>A c.568C>A (p.Leu190Ile) c.502C>A (p.Leu168Ile) c.667C>A (p.Leu223Ile) c.721C>A (p.Leu241Ile) | |
2 | g.98389764C>G | CA347831633 | CNGA3 | c.556C>G (p.Leu186Val) n.561C>G c.568C>G (p.Leu190Val) c.502C>G (p.Leu168Val) c.667C>G (p.Leu223Val) c.721C>G (p.Leu241Val) | |
2 | g.98389764C>T | CA347831634 | CNGA3 | c.556C>T (p.Leu186Phe) n.561C>T c.568C>T (p.Leu190Phe) c.502C>T (p.Leu168Phe) c.667C>T (p.Leu223Phe) c.721C>T (p.Leu241Phe) |