| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98393909_98399093del | CA2499216316 | CNGA3 | c.785-1935_*1838del c.839-1935_*1838del | ClinVar |
| 2 | g.98396042_98396043del | CA2586969724 | CNGA3 | c.872_873del (p.Thr291ArgfsTer?) c.884_885del (p.Thr295ArgfsTer?) c.818_819del (p.Thr273ArgfsTer?) c.983_984del (p.Thr328ArgfsTer?) c.1037_1038del (p.Thr346ArgfsTer?) | |
| 2 | g.98396042C>A | CA347832321 | CNGA3 | c.872C>A (p.Thr291Lys) c.884C>A (p.Thr295Lys) c.818C>A (p.Thr273Lys) c.983C>A (p.Thr328Lys) c.1037C>A (p.Thr346Lys) | |
| 2 | g.98396042C= | CA1273419734 | CNGA3 | c.872C= (p.Thr291=) c.884C= (p.Thr295=) c.818C= (p.Thr273=) c.983C= (p.Thr328=) c.1037C= (p.Thr346=) | |
| 2 | g.98396042C>G | CA254822 | CNGA3 | c.872C>G (p.Thr291Arg) c.884C>G (p.Thr295Arg) c.818C>G (p.Thr273Arg) c.983C>G (p.Thr328Arg) c.1037C>G (p.Thr346Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.98396042C>T | CA347832322 | CNGA3 | c.872C>T (p.Thr291Ile) c.884C>T (p.Thr295Ile) c.818C>T (p.Thr273Ile) c.983C>T (p.Thr328Ile) c.1037C>T (p.Thr346Ile) | dbSNP COSMIC |
| 2 | g.98396043A>C | CA427819501 | CNGA3 | c.873A>C (p.Thr291=) c.885A>C (p.Thr295=) c.819A>C (p.Thr273=) c.984A>C (p.Thr328=) c.1038A>C (p.Thr346=) | |
| 2 | g.98396043A>G | CA427819502 | CNGA3 | c.873A>G (p.Thr291=) c.885A>G (p.Thr295=) c.819A>G (p.Thr273=) c.984A>G (p.Thr328=) c.1038A>G (p.Thr346=) | |
| 2 | g.98396043A>T | CA427819503 | CNGA3 | c.873A>T (p.Thr291=) c.885A>T (p.Thr295=) c.819A>T (p.Thr273=) c.984A>T (p.Thr328=) c.1038A>T (p.Thr346=) | |
| 2 | g.98396044G>A | CA347832323 | CNGA3 | c.874G>A (p.Glu292Lys) c.886G>A (p.Glu296Lys) c.820G>A (p.Glu274Lys) c.985G>A (p.Glu329Lys) c.1039G>A (p.Glu347Lys) | |
| 2 | g.98396044G>C | CA347832324 | CNGA3 | c.874G>C (p.Glu292Gln) c.886G>C (p.Glu296Gln) c.820G>C (p.Glu274Gln) c.985G>C (p.Glu329Gln) c.1039G>C (p.Glu347Gln) | |
| 2 | g.98396044G>T | CA347832325 | CNGA3 | c.874G>T (p.Glu292Ter) c.886G>T (p.Glu296Ter) c.820G>T (p.Glu274Ter) c.985G>T (p.Glu329Ter) c.1039G>T (p.Glu347Ter) | |
| 2 | g.98396045A>C | CA347832326 | CNGA3 | c.875A>C (p.Glu292Ala) c.887A>C (p.Glu296Ala) c.821A>C (p.Glu274Ala) c.986A>C (p.Glu329Ala) c.1040A>C (p.Glu347Ala) | COSMIC |
| 2 | g.98396045A>G | CA347832327 | CNGA3 | c.875A>G (p.Glu292Gly) c.887A>G (p.Glu296Gly) c.821A>G (p.Glu274Gly) c.986A>G (p.Glu329Gly) c.1040A>G (p.Glu347Gly) | |
| 2 | g.98396045A>T | CA347832328 | CNGA3 | c.875A>T (p.Glu292Val) c.887A>T (p.Glu296Val) c.821A>T (p.Glu274Val) c.986A>T (p.Glu329Val) c.1040A>T (p.Glu347Val) | |
| 2 | g.98396046G>A | CA427819504 | CNGA3 | c.876G>A (p.Glu292=) c.888G>A (p.Glu296=) c.822G>A (p.Glu274=) c.987G>A (p.Glu329=) c.1041G>A (p.Glu347=) | gnomAD v4 |
| 2 | g.98396046G>C | CA347832329 | CNGA3 | c.876G>C (p.Glu292Asp) c.888G>C (p.Glu296Asp) c.822G>C (p.Glu274Asp) c.987G>C (p.Glu329Asp) c.1041G>C (p.Glu347Asp) | gnomAD v4 |
| 2 | g.98396046G>T | CA347832330 | CNGA3 | c.876G>T (p.Glu292Asp) c.888G>T (p.Glu296Asp) c.822G>T (p.Glu274Asp) c.987G>T (p.Glu329Asp) c.1041G>T (p.Glu347Asp) | |
| 2 | g.98396047A>C | CA347832331 | CNGA3 | c.877A>C (p.Thr293Pro) c.889A>C (p.Thr297Pro) c.823A>C (p.Thr275Pro) c.988A>C (p.Thr330Pro) c.1042A>C (p.Thr348Pro) | |
| 2 | g.98396047A>G | CA347832332 | CNGA3 | c.877A>G (p.Thr293Ala) c.889A>G (p.Thr297Ala) c.823A>G (p.Thr275Ala) c.988A>G (p.Thr330Ala) c.1042A>G (p.Thr348Ala) | gnomAD v4 |
| 2 | g.98396047A>T | CA347832333 | CNGA3 | c.877A>T (p.Thr293Ser) c.889A>T (p.Thr297Ser) c.823A>T (p.Thr275Ser) c.988A>T (p.Thr330Ser) c.1042A>T (p.Thr348Ser) | |
| 2 | g.98396048C>A | CA347832334 | CNGA3 | c.878C>A (p.Thr293Lys) c.890C>A (p.Thr297Lys) c.824C>A (p.Thr275Lys) c.989C>A (p.Thr330Lys) c.1043C>A (p.Thr348Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396048C= | CA1273419735 | CNGA3 | c.878C= (p.Thr293=) c.890C= (p.Thr297=) c.824C= (p.Thr275=) c.989C= (p.Thr330=) c.1043C= (p.Thr348=) | |
| 2 | g.98396048C>G | CA347832335 | CNGA3 | c.878C>G (p.Thr293Arg) c.890C>G (p.Thr297Arg) c.824C>G (p.Thr275Arg) c.989C>G (p.Thr330Arg) c.1043C>G (p.Thr348Arg) | |
| 2 | g.98396048C>T | CA347832336 | CNGA3 | c.878C>T (p.Thr293Ile) c.890C>T (p.Thr297Ile) c.824C>T (p.Thr275Ile) c.989C>T (p.Thr330Ile) c.1043C>T (p.Thr348Ile) | |
| 2 | g.98396049A>C | CA427819505 | CNGA3 | c.879A>C (p.Thr293=) c.891A>C (p.Thr297=) c.825A>C (p.Thr275=) c.990A>C (p.Thr330=) c.1044A>C (p.Thr348=) | |
| 2 | g.98396049A>G | CA427819506 | CNGA3 | c.879A>G (p.Thr293=) c.891A>G (p.Thr297=) c.825A>G (p.Thr275=) c.990A>G (p.Thr330=) c.1044A>G (p.Thr348=) | |
| 2 | g.98396049A>T | CA427819507 | CNGA3 | c.879A>T (p.Thr293=) c.891A>T (p.Thr297=) c.825A>T (p.Thr275=) c.990A>T (p.Thr330=) c.1044A>T (p.Thr348=) | |
| 2 | g.98396050A>C | CA427819508 | CNGA3 | c.880A>C (p.Arg294=) c.892A>C (p.Arg298=) c.826A>C (p.Arg276=) c.991A>C (p.Arg331=) c.1045A>C (p.Arg349=) | |
| 2 | g.98396050A>G | CA347832337 | CNGA3 | c.880A>G (p.Arg294Gly) c.892A>G (p.Arg298Gly) c.826A>G (p.Arg276Gly) c.991A>G (p.Arg331Gly) c.1045A>G (p.Arg349Gly) | |
| 2 | g.98396050A>T | CA347832338 | CNGA3 | c.880A>T (p.Arg294Trp) c.892A>T (p.Arg298Trp) c.826A>T (p.Arg276Trp) c.991A>T (p.Arg331Trp) c.1045A>T (p.Arg349Trp) | |
| 2 | g.98396051G>A | CA347832339 | CNGA3 | c.881G>A (p.Arg294Lys) c.893G>A (p.Arg298Lys) c.827G>A (p.Arg276Lys) c.992G>A (p.Arg331Lys) c.1046G>A (p.Arg349Lys) | gnomAD v4 COSMIC |
| 2 | g.98396051G>C | CA347832340 | CNGA3 | c.881G>C (p.Arg294Thr) c.893G>C (p.Arg298Thr) c.827G>C (p.Arg276Thr) c.992G>C (p.Arg331Thr) c.1046G>C (p.Arg349Thr) | |
| 2 | g.98396051G>T | CA347832341 | CNGA3 | c.881G>T (p.Arg294Met) c.893G>T (p.Arg298Met) c.827G>T (p.Arg276Met) c.992G>T (p.Arg331Met) c.1046G>T (p.Arg349Met) | |
| 2 | g.98396052G>A | CA1793913 | CNGA3 | c.882G>A (p.Arg294=) c.894G>A (p.Arg298=) c.828G>A (p.Arg276=) c.993G>A (p.Arg331=) c.1047G>A (p.Arg349=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.98396052G>C | CA347832343 | CNGA3 | c.882G>C (p.Arg294Ser) c.894G>C (p.Arg298Ser) c.828G>C (p.Arg276Ser) c.993G>C (p.Arg331Ser) c.1047G>C (p.Arg349Ser) | |
| 2 | g.98396052G= | CA1273419736 | CNGA3 | c.882G= (p.Arg294=) c.894G= (p.Arg298=) c.828G= (p.Arg276=) c.993G= (p.Arg331=) c.1047G= (p.Arg349=) | |
| 2 | g.98396052G>T | CA347832342 | CNGA3 | c.882G>T (p.Arg294Ser) c.894G>T (p.Arg298Ser) c.828G>T (p.Arg276Ser) c.993G>T (p.Arg331Ser) c.1047G>T (p.Arg349Ser) | dbSNP |
| 2 | g.98396053A>C | CA347832344 | CNGA3 | c.883A>C (p.Thr295Pro) c.895A>C (p.Thr299Pro) c.829A>C (p.Thr277Pro) c.994A>C (p.Thr332Pro) c.1048A>C (p.Thr350Pro) | |
| 2 | g.98396053A>G | CA347832345 | CNGA3 | c.883A>G (p.Thr295Ala) c.895A>G (p.Thr299Ala) c.829A>G (p.Thr277Ala) c.994A>G (p.Thr332Ala) c.1048A>G (p.Thr350Ala) | |
| 2 | g.98396053A>T | CA347832346 | CNGA3 | c.883A>T (p.Thr295Ser) c.895A>T (p.Thr299Ser) c.829A>T (p.Thr277Ser) c.994A>T (p.Thr332Ser) c.1048A>T (p.Thr350Ser) | |
| 2 | g.98396054C>A | CA347832347 | CNGA3 | c.884C>A (p.Thr295Asn) c.896C>A (p.Thr299Asn) c.830C>A (p.Thr277Asn) c.995C>A (p.Thr332Asn) c.1049C>A (p.Thr350Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.98396054C= | CA1273419737 | CNGA3 | c.884C= (p.Thr295=) c.896C= (p.Thr299=) c.830C= (p.Thr277=) c.995C= (p.Thr332=) c.1049C= (p.Thr350=) | |
| 2 | g.98396054C>G | CA347832348 | CNGA3 | c.884C>G (p.Thr295Ser) c.896C>G (p.Thr299Ser) c.830C>G (p.Thr277Ser) c.995C>G (p.Thr332Ser) c.1049C>G (p.Thr350Ser) | |
| 2 | g.98396054C>T | CA1793914 | CNGA3 | c.884C>T (p.Thr295Ile) c.896C>T (p.Thr299Ile) c.830C>T (p.Thr277Ile) c.995C>T (p.Thr332Ile) c.1049C>T (p.Thr350Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396055C>A | CA427819509 | CNGA3 | c.885C>A (p.Thr295=) c.897C>A (p.Thr299=) c.831C>A (p.Thr277=) c.996C>A (p.Thr332=) c.1050C>A (p.Thr350=) | gnomAD v4 |
| 2 | g.98396055C>G | CA427819510 | CNGA3 | c.885C>G (p.Thr295=) c.897C>G (p.Thr299=) c.831C>G (p.Thr277=) c.996C>G (p.Thr332=) c.1050C>G (p.Thr350=) | |
| 2 | g.98396055C>T | CA427819511 | CNGA3 | c.885C>T (p.Thr295=) c.897C>T (p.Thr299=) c.831C>T (p.Thr277=) c.996C>T (p.Thr332=) c.1050C>T (p.Thr350=) | |
| 2 | g.98396056A>C | CA347832351 | CNGA3 | c.886A>C (p.Asn296His) c.898A>C (p.Asn300His) c.832A>C (p.Asn278His) c.997A>C (p.Asn333His) c.1051A>C (p.Asn351His) | |
| 2 | g.98396056A>G | CA347832349 | CNGA3 | c.886A>G (p.Asn296Asp) c.898A>G (p.Asn300Asp) c.832A>G (p.Asn278Asp) c.997A>G (p.Asn333Asp) c.1051A>G (p.Asn351Asp) |