| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98389656A>C | CA347831407 | CNGA3 | c.450-2A>C (n.450-2A>C) n.455-2A>C c.462-2A>C (n.462-2A>C) c.396-2A>C (n.396-2A>C) c.561-2A>C (n.561-2A>C) c.615-2A>C (n.615-2A>C) | |
| 2 | g.98389656A>G | CA347831408 | CNGA3 | c.450-2A>G (n.450-2A>G) n.455-2A>G c.462-2A>G (n.462-2A>G) c.396-2A>G (n.396-2A>G) c.561-2A>G (n.561-2A>G) c.615-2A>G (n.615-2A>G) | |
| 2 | g.98389656A>T | CA347831409 | CNGA3 | c.450-2A>T (n.450-2A>T) n.455-2A>T c.462-2A>T (n.462-2A>T) c.396-2A>T (n.396-2A>T) c.561-2A>T (n.561-2A>T) c.615-2A>T (n.615-2A>T) | |
| 2 | g.98389657G>A | CA1793760 | CNGA3 | c.450-1G>A (n.450-1G>A) n.455-1G>A c.462-1G>A (n.462-1G>A) c.396-1G>A (n.396-1G>A) c.561-1G>A (n.561-1G>A) c.615-1G>A (n.615-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98389657G>C | CA347831410 | CNGA3 | c.450-1G>C (n.450-1G>C) n.455-1G>C c.462-1G>C (n.462-1G>C) c.396-1G>C (n.396-1G>C) c.561-1G>C (n.561-1G>C) c.615-1G>C (n.615-1G>C) | |
| 2 | g.98389657G= | CA1273416645 | CNGA3 | c.450-1G= (n.450-1G=) n.455-1G= c.462-1G= (n.462-1G=) c.396-1G= (n.396-1G=) c.561-1G= (n.561-1G=) c.615-1G= (n.615-1G=) | |
| 2 | g.98389657G>T | CA347831411 | CNGA3 | c.450-1G>T (n.450-1G>T) n.455-1G>T c.462-1G>T (n.462-1G>T) c.396-1G>T (n.396-1G>T) c.561-1G>T (n.561-1G>T) c.615-1G>T (n.615-1G>T) | |
| 2 | g.98389658G>A | CA427567046 | CNGA3 | c.450G>A (p.Glu150=) n.455G>A c.462G>A (p.Glu154=) c.396G>A (p.Arg132=) c.561G>A (p.Arg187=) c.615G>A (p.Glu205=) | ClinVar |
| 2 | g.98389658G>C | CA347831412 | CNGA3 | c.450G>C (p.Glu150Asp) n.455G>C c.462G>C (p.Glu154Asp) c.396G>C (p.Arg132Ser) c.561G>C (p.Arg187Ser) c.615G>C (p.Glu205Asp) | |
| 2 | g.98389658G>T | CA347831413 | CNGA3 | c.450G>T (p.Glu150Asp) n.455G>T c.462G>T (p.Glu154Asp) c.396G>T (p.Arg132Ser) c.561G>T (p.Arg187Ser) c.615G>T (p.Glu205Asp) | |
| 2 | g.98389659A>C | CA347831414 | CNGA3 | c.451A>C (p.Lys151Gln) n.456A>C c.463A>C (p.Lys155Gln) c.397A>C (p.Lys133Gln) c.562A>C (p.Lys188Gln) c.616A>C (p.Lys206Gln) | |
| 2 | g.98389659A>G | CA347831415 | CNGA3 | c.451A>G (p.Lys151Glu) n.456A>G c.463A>G (p.Lys155Glu) c.397A>G (p.Lys133Glu) c.562A>G (p.Lys188Glu) c.616A>G (p.Lys206Glu) | |
| 2 | g.98389659A>T | CA347831416 | CNGA3 | c.451A>T (p.Lys151Ter) n.456A>T c.463A>T (p.Lys155Ter) c.397A>T (p.Lys133Ter) c.562A>T (p.Lys188Ter) c.616A>T (p.Lys206Ter) | |
| 2 | g.98389660A>C | CA347831419 | CNGA3 | c.452A>C (p.Lys151Thr) n.457A>C c.464A>C (p.Lys155Thr) c.398A>C (p.Lys133Thr) c.563A>C (p.Lys188Thr) c.617A>C (p.Lys206Thr) | |
| 2 | g.98389660A>G | CA347831417 | CNGA3 | c.452A>G (p.Lys151Arg) n.457A>G c.464A>G (p.Lys155Arg) c.398A>G (p.Lys133Arg) c.563A>G (p.Lys188Arg) c.617A>G (p.Lys206Arg) | |
| 2 | g.98389660A>T | CA347831418 | CNGA3 | c.452A>T (p.Lys151Met) n.457A>T c.464A>T (p.Lys155Met) c.398A>T (p.Lys133Met) c.563A>T (p.Lys188Met) c.617A>T (p.Lys206Met) | |
| 2 | g.98389661G>A | CA427567047 | CNGA3 | c.453G>A (p.Lys151=) n.458G>A c.465G>A (p.Lys155=) c.399G>A (p.Lys133=) c.564G>A (p.Lys188=) c.618G>A (p.Lys206=) | ClinVar |
| 2 | g.98389661G>C | CA347831420 | CNGA3 | c.453G>C (p.Lys151Asn) n.458G>C c.465G>C (p.Lys155Asn) c.399G>C (p.Lys133Asn) c.564G>C (p.Lys188Asn) c.618G>C (p.Lys206Asn) | |
| 2 | g.98389661G>T | CA347831421 | CNGA3 | c.453G>T (p.Lys151Asn) n.458G>T c.465G>T (p.Lys155Asn) c.399G>T (p.Lys133Asn) c.564G>T (p.Lys188Asn) c.618G>T (p.Lys206Asn) | |
| 2 | g.98389662A= | CA1273416646 | CNGA3 | c.454A= (p.Lys152=) n.459A= c.466A= (p.Lys156=) c.400A= (p.Lys134=) c.565A= (p.Lys189=) c.619A= (p.Lys207=) | |
| 2 | g.98389662A>C | CA347831422 | CNGA3 | c.454A>C (p.Lys152Gln) n.459A>C c.466A>C (p.Lys156Gln) c.400A>C (p.Lys134Gln) c.565A>C (p.Lys189Gln) c.619A>C (p.Lys207Gln) | |
| 2 | g.98389662A>G | CA1793761 | CNGA3 | c.454A>G (p.Lys152Glu) n.459A>G c.466A>G (p.Lys156Glu) c.400A>G (p.Lys134Glu) c.565A>G (p.Lys189Glu) c.619A>G (p.Lys207Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.98389662A>T | CA347831423 | CNGA3 | c.454A>T (p.Lys152Ter) n.459A>T c.466A>T (p.Lys156Ter) c.400A>T (p.Lys134Ter) c.565A>T (p.Lys189Ter) c.619A>T (p.Lys207Ter) | |
| 2 | g.98389663A= | CA1273416647 | CNGA3 | c.455A= (p.Lys152=) n.460A= c.467A= (p.Lys156=) c.401A= (p.Lys134=) c.566A= (p.Lys189=) c.620A= (p.Lys207=) | |
| 2 | g.98389663A>C | CA347831424 | CNGA3 | c.455A>C (p.Lys152Thr) n.460A>C c.467A>C (p.Lys156Thr) c.401A>C (p.Lys134Thr) c.566A>C (p.Lys189Thr) c.620A>C (p.Lys207Thr) | |
| 2 | g.98389663A>G | CA1793762 | CNGA3 | c.455A>G (p.Lys152Arg) n.460A>G c.467A>G (p.Lys156Arg) c.401A>G (p.Lys134Arg) c.566A>G (p.Lys189Arg) c.620A>G (p.Lys207Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.98389663A>T | CA347831425 | CNGA3 | c.455A>T (p.Lys152Met) n.460A>T c.467A>T (p.Lys156Met) c.401A>T (p.Lys134Met) c.566A>T (p.Lys189Met) c.620A>T (p.Lys207Met) | |
| 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 |