| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98393909_98399093del | CA2499216316 | CNGA3 | c.785-1935_*1838del c.839-1935_*1838del | ClinVar |
| 2 | g.98395942C>A | CA347832115 | CNGA3 | c.772C>A (p.Pro258Thr) c.784C>A (p.Pro262Thr) c.718C>A (p.Pro240Thr) c.883C>A (p.Pro295Thr) c.937C>A (p.Pro313Thr) | |
| 2 | g.98395942C= | CA1273419689 | CNGA3 | c.772C= (p.Pro258=) c.784C= (p.Pro262=) c.718C= (p.Pro240=) c.883C= (p.Pro295=) c.937C= (p.Pro313=) | |
| 2 | g.98395942C>G | CA347832116 | CNGA3 | c.772C>G (p.Pro258Ala) c.784C>G (p.Pro262Ala) c.718C>G (p.Pro240Ala) c.883C>G (p.Pro295Ala) c.937C>G (p.Pro313Ala) | ClinVar dbSNP |
| 2 | g.98395942C>T | CA347832117 | CNGA3 | c.772C>T (p.Pro258Ser) c.784C>T (p.Pro262Ser) c.718C>T (p.Pro240Ser) c.883C>T (p.Pro295Ser) c.937C>T (p.Pro313Ser) | dbSNP gnomAD v2 |
| 2 | g.98395943C>A | CA347832118 | CNGA3 | c.773C>A (p.Pro258His) c.785C>A (p.Pro262His) c.719C>A (p.Pro240His) c.884C>A (p.Pro295His) c.938C>A (p.Pro313His) | |
| 2 | g.98395943C>G | CA347832119 | CNGA3 | c.773C>G (p.Pro258Arg) c.785C>G (p.Pro262Arg) c.719C>G (p.Pro240Arg) c.884C>G (p.Pro295Arg) c.938C>G (p.Pro313Arg) | gnomAD v4 |
| 2 | g.98395943C>T | CA347832120 | CNGA3 | c.773C>T (p.Pro258Leu) c.785C>T (p.Pro262Leu) c.719C>T (p.Pro240Leu) c.884C>T (p.Pro295Leu) c.938C>T (p.Pro313Leu) | |
| 2 | g.98395944C>A | CA427568370 | CNGA3 | c.774C>A (p.Pro258=) c.786C>A (p.Pro262=) c.720C>A (p.Pro240=) c.885C>A (p.Pro295=) c.939C>A (p.Pro313=) | |
| 2 | g.98395944C>G | CA427568372 | CNGA3 | c.774C>G (p.Pro258=) c.786C>G (p.Pro262=) c.720C>G (p.Pro240=) c.885C>G (p.Pro295=) c.939C>G (p.Pro313=) | |
| 2 | g.98395944C>T | CA427568374 | CNGA3 | c.774C>T (p.Pro258=) c.786C>T (p.Pro262=) c.720C>T (p.Pro240=) c.885C>T (p.Pro295=) c.939C>T (p.Pro313=) | |
| 2 | g.98395947_98395973del | CA2699953463 | CNGA3 | c.777_803del (p.Asp260_Thr268del) c.789_815del (p.Asp264_Thr272del) c.723_749del (p.Asp242_Thr250del) c.888_914del (p.Asp297_Thr305del) c.942_968del (p.Asp315_Thr323del) | dbSNP |
| 2 | g.98395945A= | CA1273419690 | CNGA3 | c.775A= (p.Thr259=) c.787A= (p.Thr263=) c.721A= (p.Thr241=) c.886A= (p.Thr296=) c.940A= (p.Thr314=) | |
| 2 | g.98395945A>C | CA347832123 | CNGA3 | c.775A>C (p.Thr259Pro) c.787A>C (p.Thr263Pro) c.721A>C (p.Thr241Pro) c.886A>C (p.Thr296Pro) c.940A>C (p.Thr314Pro) | ClinVar |
| 2 | g.98395945A>G | CA347832122 | CNGA3 | c.775A>G (p.Thr259Ala) c.787A>G (p.Thr263Ala) c.721A>G (p.Thr241Ala) c.886A>G (p.Thr296Ala) c.940A>G (p.Thr314Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.98395945A>T | CA347832121 | CNGA3 | c.775A>T (p.Thr259Ser) c.787A>T (p.Thr263Ser) c.721A>T (p.Thr241Ser) c.886A>T (p.Thr296Ser) c.940A>T (p.Thr314Ser) | |
| 2 | g.98395946C>A | CA347832124 | CNGA3 | c.776C>A (p.Thr259Asn) c.788C>A (p.Thr263Asn) c.722C>A (p.Thr241Asn) c.887C>A (p.Thr296Asn) c.941C>A (p.Thr314Asn) | |
| 2 | g.98395946C>G | CA347832125 | CNGA3 | c.776C>G (p.Thr259Ser) c.788C>G (p.Thr263Ser) c.722C>G (p.Thr241Ser) c.887C>G (p.Thr296Ser) c.941C>G (p.Thr314Ser) | gnomAD v4 |
| 2 | g.98395946C>T | CA347832126 | CNGA3 | c.776C>T (p.Thr259Ile) c.788C>T (p.Thr263Ile) c.722C>T (p.Thr241Ile) c.887C>T (p.Thr296Ile) c.941C>T (p.Thr314Ile) | |
| 2 | g.98395947C>A | CA1793889 | CNGA3 | c.777C>A (p.Thr259=) c.789C>A (p.Thr263=) c.723C>A (p.Thr241=) c.888C>A (p.Thr296=) c.942C>A (p.Thr314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98395947C= | CA1273419691 | CNGA3 | c.777C= (p.Thr259=) c.789C= (p.Thr263=) c.723C= (p.Thr241=) c.888C= (p.Thr296=) c.942C= (p.Thr314=) | |
| 2 | g.98395947C>G | CA427568377 | CNGA3 | c.777C>G (p.Thr259=) c.789C>G (p.Thr263=) c.723C>G (p.Thr241=) c.888C>G (p.Thr296=) c.942C>G (p.Thr314=) | |
| 2 | g.98395947C>T | CA1793888 | CNGA3 | c.777C>T (p.Thr259=) c.789C>T (p.Thr263=) c.723C>T (p.Thr241=) c.888C>T (p.Thr296=) c.942C>T (p.Thr314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98395948G>A | CA1793891 | CNGA3 | c.778G>A (p.Asp260Asn) c.790G>A (p.Asp264Asn) c.724G>A (p.Asp242Asn) c.889G>A (p.Asp297Asn) c.943G>A (p.Asp315Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98395948G>C | CA1793892 | CNGA3 | c.778G>C (p.Asp260His) c.790G>C (p.Asp264His) c.724G>C (p.Asp242His) c.889G>C (p.Asp297His) c.943G>C (p.Asp315His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.98395948G= | CA1273419692 | CNGA3 | c.778G= (p.Asp260=) c.790G= (p.Asp264=) c.724G= (p.Asp242=) c.889G= (p.Asp297=) c.943G= (p.Asp315=) | |
| 2 | g.98395948G>T | CA347832127 | CNGA3 | c.778G>T (p.Asp260Tyr) c.790G>T (p.Asp264Tyr) c.724G>T (p.Asp242Tyr) c.889G>T (p.Asp297Tyr) c.943G>T (p.Asp315Tyr) | COSMIC |
| 2 | g.98395948dup | CA1793890 | CNGA3 | c.778dup (p.Asp260GlyfsTer27) c.790dup (p.Asp264GlyfsTer27) c.724dup (p.Asp242GlyfsTer27) c.889dup (p.Asp297GlyfsTer27) c.943dup (p.Asp315GlyfsTer27) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.98395949A>C | CA347832128 | CNGA3 | c.779A>C (p.Asp260Ala) c.791A>C (p.Asp264Ala) c.725A>C (p.Asp242Ala) c.890A>C (p.Asp297Ala) c.944A>C (p.Asp315Ala) | |
| 2 | g.98395949A>G | CA347832129 | CNGA3 | c.779A>G (p.Asp260Gly) c.791A>G (p.Asp264Gly) c.725A>G (p.Asp242Gly) c.890A>G (p.Asp297Gly) c.944A>G (p.Asp315Gly) | |
| 2 | g.98395949A>T | CA347832130 | CNGA3 | c.779A>T (p.Asp260Val) c.791A>T (p.Asp264Val) c.725A>T (p.Asp242Val) c.890A>T (p.Asp297Val) c.944A>T (p.Asp315Val) | |
| 2 | g.98395950C>A | CA347832131 | CNGA3 | c.780C>A (p.Asp260Glu) c.792C>A (p.Asp264Glu) c.726C>A (p.Asp242Glu) c.891C>A (p.Asp297Glu) c.945C>A (p.Asp315Glu) | gnomAD v4 |
| 2 | g.98395950C= | CA1273419693 | CNGA3 | c.780C= (p.Asp260=) c.792C= (p.Asp264=) c.726C= (p.Asp242=) c.891C= (p.Asp297=) c.945C= (p.Asp315=) | |
| 2 | g.98395950C>G | CA347832132 | CNGA3 | c.780C>G (p.Asp260Glu) c.792C>G (p.Asp264Glu) c.726C>G (p.Asp242Glu) c.891C>G (p.Asp297Glu) c.945C>G (p.Asp315Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.98395950C>T | CA427568390 | CNGA3 | c.780C>T (p.Asp260=) c.792C>T (p.Asp264=) c.726C>T (p.Asp242=) c.891C>T (p.Asp297=) c.945C>T (p.Asp315=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.98395951C>A | CA347832133 | CNGA3 | c.781C>A (p.Leu261Met) c.793C>A (p.Leu265Met) c.727C>A (p.Leu243Met) c.892C>A (p.Leu298Met) c.946C>A (p.Leu316Met) | |
| 2 | g.98395951C= | CA1273419694 | CNGA3 | c.781C= (p.Leu261=) c.793C= (p.Leu265=) c.727C= (p.Leu243=) c.892C= (p.Leu298=) c.946C= (p.Leu316=) | |
| 2 | g.98395951C>G | CA347832134 | CNGA3 | c.781C>G (p.Leu261Val) c.793C>G (p.Leu265Val) c.727C>G (p.Leu243Val) c.892C>G (p.Leu298Val) c.946C>G (p.Leu316Val) | ClinVar COSMIC |
| 2 | g.98395951C>T | CA427568392 | CNGA3 | c.781C>T (p.Leu261=) c.793C>T (p.Leu265=) c.727C>T (p.Leu243=) c.892C>T (p.Leu298=) c.946C>T (p.Leu316=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.98395952T>A | CA347832135 | CNGA3 | c.782T>A (p.Leu261Gln) c.794T>A (p.Leu265Gln) c.728T>A (p.Leu243Gln) c.893T>A (p.Leu298Gln) c.947T>A (p.Leu316Gln) | |
| 2 | g.98395952T>C | CA347832136 | CNGA3 | c.782T>C (p.Leu261Pro) c.794T>C (p.Leu265Pro) c.728T>C (p.Leu243Pro) c.893T>C (p.Leu298Pro) c.947T>C (p.Leu316Pro) | gnomAD v4 |
| 2 | g.98395952T>G | CA347832137 | CNGA3 | c.782T>G (p.Leu261Arg) c.794T>G (p.Leu265Arg) c.728T>G (p.Leu243Arg) c.893T>G (p.Leu298Arg) c.947T>G (p.Leu316Arg) | |
| 2 | g.98395953G>A | CA52635229 | CNGA3 | c.783G>A (p.Leu261=) c.795G>A (p.Leu265=) c.729G>A (p.Leu243=) c.894G>A (p.Leu298=) c.948G>A (p.Leu316=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98395953G>C | CA427568402 | CNGA3 | c.783G>C (p.Leu261=) c.795G>C (p.Leu265=) c.729G>C (p.Leu243=) c.894G>C (p.Leu298=) c.948G>C (p.Leu316=) | |
| 2 | g.98395953G= | CA1273419695 | CNGA3 | c.783G= (p.Leu261=) c.795G= (p.Leu265=) c.729G= (p.Leu243=) c.894G= (p.Leu298=) c.948G= (p.Leu316=) | |
| 2 | g.98395953G>T | CA427568404 | CNGA3 | c.783G>T (p.Leu261=) c.795G>T (p.Leu265=) c.729G>T (p.Leu243=) c.894G>T (p.Leu298=) c.948G>T (p.Leu316=) | |
| 2 | g.98395954G>A | CA1793893 | CNGA3 | c.784G>A (p.Ala262Thr) c.796G>A (p.Ala266Thr) c.730G>A (p.Ala244Thr) c.895G>A (p.Ala299Thr) c.949G>A (p.Ala317Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98395954G>C | CA347832138 | CNGA3 | c.784G>C (p.Ala262Pro) c.796G>C (p.Ala266Pro) c.730G>C (p.Ala244Pro) c.895G>C (p.Ala299Pro) c.949G>C (p.Ala317Pro) | |
| 2 | g.98395954G= | CA1273419696 | CNGA3 | c.784G= (p.Ala262=) c.796G= (p.Ala266=) c.730G= (p.Ala244=) c.895G= (p.Ala299=) c.949G= (p.Ala317=) | |
| 2 | g.98395954G>T | CA347832139 | CNGA3 | c.784G>T (p.Ala262Ser) c.796G>T (p.Ala266Ser) c.730G>T (p.Ala244Ser) c.895G>T (p.Ala299Ser) c.949G>T (p.Ala317Ser) |