UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
| 8 | g.86670946G>A | CA371450027 | CNGB3 | c.491C>T (p.Thr164Ile) n.252C>T c.77C>T (p.Thr26Ile) | |
| 8 | g.86670946G>C | CA371450028 | CNGB3 | c.491C>G (p.Thr164Ser) n.252C>G c.77C>G (p.Thr26Ser) | |
| 8 | g.86670946G>T | CA371450029 | CNGB3 | c.491C>A (p.Thr164Asn) n.252C>A c.77C>A (p.Thr26Asn) | gnomAD v4 |
| 8 | g.86670947T>A | CA371450030 | CNGB3 | c.490A>T (p.Thr164Ser) n.251A>T c.76A>T (p.Thr26Ser) | |
| 8 | g.86670947T>C | CA371450031 | CNGB3 | c.490A>G (p.Thr164Ala) n.251A>G c.76A>G (p.Thr26Ala) | dbSNP |
| 8 | g.86670947T>G | CA371450032 | CNGB3 | c.490A>C (p.Thr164Pro) n.251A>C c.76A>C (p.Thr26Pro) | |
| 8 | g.86670947T= | CA1799829560 | CNGB3 | c.490A= (p.Thr164=) n.251A= c.76A= (p.Thr26=) | |
| 8 | g.86670948T>A | CA4800389 | CNGB3 | c.489A>T (p.Gln163His) n.250A>T c.75A>T (p.Gln25His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670948T>C | CA461831177 | CNGB3 | c.489A>G (p.Gln163=) n.250A>G c.75A>G (p.Gln25=) | ClinVar |
| 8 | g.86670948T>G | CA371450033 | CNGB3 | c.489A>C (p.Gln163His) n.250A>C c.75A>C (p.Gln25His) | |
| 8 | g.86670948T= | CA1799829565 | CNGB3 | c.489A= (p.Gln163=) n.250A= c.75A= (p.Gln25=) | |
| 8 | g.86670948_86670949insC | CA2687826635 | CNGB3 | c.488_489insG (p.Thr164AsnfsTer15) n.249_250insG c.74_75insG (p.Thr26AsnfsTer15) | gnomAD v4 |
| 8 | g.86670949T>A | CA371450034 | CNGB3 | c.488A>T (p.Gln163Leu) n.249A>T c.74A>T (p.Gln25Leu) | |
| 8 | g.86670949T>C | CA371450035 | CNGB3 | c.488A>G (p.Gln163Arg) n.249A>G c.74A>G (p.Gln25Arg) | |
| 8 | g.86670949T>G | CA371450036 | CNGB3 | c.488A>C (p.Gln163Pro) n.249A>C c.74A>C (p.Gln25Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86670949T= | CA1799829577 | CNGB3 | c.488A= (p.Gln163=) n.249A= c.74A= (p.Gln25=) | |
| 8 | g.86670950G>A | CA371450039 | CNGB3 | c.487C>T (p.Gln163Ter) n.248C>T c.73C>T (p.Gln25Ter) | |
| 8 | g.86670950G>C | CA371450037 | CNGB3 | c.487C>G (p.Gln163Glu) n.248C>G c.73C>G (p.Gln25Glu) | |
| 8 | g.86670950G>T | CA371450038 | CNGB3 | c.487C>A (p.Gln163Lys) n.248C>A c.73C>A (p.Gln25Lys) | |
| 8 | g.86670951T>A | CA461831178 | CNGB3 | c.486A>T (p.Pro162=) n.247A>T c.72A>T (p.Pro24=) | |
| 8 | g.86670951T>C | CA461831179 | CNGB3 | c.486A>G (p.Pro162=) n.247A>G c.72A>G (p.Pro24=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86670951T>G | CA461831180 | CNGB3 | c.486A>C (p.Pro162=) n.247A>C c.72A>C (p.Pro24=) | |
| 8 | g.86670952G>A | CA371450040 | CNGB3 | c.485C>T (p.Pro162Leu) n.246C>T c.71C>T (p.Pro24Leu) | gnomAD v4 |
| 8 | g.86670952G>C | CA371450041 | CNGB3 | c.485C>G (p.Pro162Arg) n.246C>G c.71C>G (p.Pro24Arg) | |
| 8 | g.86670952G>T | CA371450042 | CNGB3 | c.485C>A (p.Pro162Gln) n.246C>A c.71C>A (p.Pro24Gln) | |
| 8 | g.86670954dup | CA2579200168 | CNGB3 | c.485dup (p.Gln163ThrfsTer16) n.246dup c.71dup (p.Gln25ThrfsTer16) | |
| 8 | g.86670953G>A | CA371450043 | CNGB3 | c.484C>T (p.Pro162Ser) n.245C>T c.70C>T (p.Pro24Ser) | |
| 8 | g.86670953G>C | CA371450044 | CNGB3 | c.484C>G (p.Pro162Ala) n.245C>G c.70C>G (p.Pro24Ala) | |
| 8 | g.86670953G>T | CA371450045 | CNGB3 | c.484C>A (p.Pro162Thr) n.245C>A c.70C>A (p.Pro24Thr) | |
| 8 | g.86670954G>A | CA461831181 | CNGB3 | c.483C>T (p.Ser161=) n.244C>T c.69C>T (p.Ser23=) | |
| 8 | g.86670954G>C | CA371450046 | CNGB3 | c.483C>G (p.Ser161Arg) n.244C>G c.69C>G (p.Ser23Arg) | |
| 8 | g.86670954G>T | CA371450047 | CNGB3 | c.483C>A (p.Ser161Arg) n.244C>A c.69C>A (p.Ser23Arg) | |
| 8 | g.86670955C>A | CA371450048 | CNGB3 | c.482G>T (p.Ser161Ile) n.243G>T c.68G>T (p.Ser23Ile) | |
| 8 | g.86670955C>G | CA371450049 | CNGB3 | c.482G>C (p.Ser161Thr) n.243G>C c.68G>C (p.Ser23Thr) | |
| 8 | g.86670955C>T | CA371450050 | CNGB3 | c.482G>A (p.Ser161Asn) n.243G>A c.68G>A (p.Ser23Asn) | |
| 8 | g.86670956T>A | CA371450052 | CNGB3 | c.481A>T (p.Ser161Cys) n.242A>T c.67A>T (p.Ser23Cys) | |
| 8 | g.86670956T>C | CA371450053 | CNGB3 | c.481A>G (p.Ser161Gly) n.242A>G c.67A>G (p.Ser23Gly) | |
| 8 | g.86670956T>G | CA371450051 | CNGB3 | c.481A>C (p.Ser161Arg) n.242A>C c.67A>C (p.Ser23Arg) | |
| 8 | g.86670957G>A | CA461831184 | CNGB3 | c.480C>T (p.Ala160=) n.241C>T c.66C>T (p.Ala22=) | |
| 8 | g.86670957G>C | CA461831183 | CNGB3 | c.480C>G (p.Ala160=) n.241C>G c.66C>G (p.Ala22=) | ClinVar gnomAD v4 |
| 8 | g.86670957G= | CA1799829581 | CNGB3 | c.480C= (p.Ala160=) n.241C= c.66C= (p.Ala22=) | |
| 8 | g.86670957G>T | CA461831182 | CNGB3 | c.480C>A (p.Ala160=) n.241C>A c.66C>A (p.Ala22=) | dbSNP |
| 8 | g.86670958G>A | CA4800390 | CNGB3 | c.479C>T (p.Ala160Val) n.240C>T c.65C>T (p.Ala22Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670958G>C | CA371450054 | CNGB3 | c.479C>G (p.Ala160Gly) n.240C>G c.65C>G (p.Ala22Gly) | |
| 8 | g.86670958G= | CA1799829586 | CNGB3 | c.479C= (p.Ala160=) n.240C= c.65C= (p.Ala22=) | |
| 8 | g.86670958G>T | CA371450055 | CNGB3 | c.479C>A (p.Ala160Asp) n.240C>A c.65C>A (p.Ala22Asp) | gnomAD v4 |
| 8 | g.86670959C>A | CA371450056 | CNGB3 | c.478G>T (p.Ala160Ser) n.239G>T c.64G>T (p.Ala22Ser) | |
| 8 | g.86670959C>G | CA371450057 | CNGB3 | c.478G>C (p.Ala160Pro) n.239G>C c.64G>C (p.Ala22Pro) | |
| 8 | g.86670959C>T | CA371450058 | CNGB3 | c.478G>A (p.Ala160Thr) n.239G>A c.64G>A (p.Ala22Thr) | |
| 8 | g.86670960T>A | CA371450060 | CNGB3 | c.477A>T (p.Glu159Asp) n.238A>T c.63A>T (p.Glu21Asp) | |
| 8 | g.86670960T>C | CA461831185 | CNGB3 | c.477A>G (p.Glu159=) n.238A>G c.63A>G (p.Glu21=) | |
| 8 | g.86670960T>G | CA371450059 | CNGB3 | c.477A>C (p.Glu159Asp) n.238A>C c.63A>C (p.Glu21Asp) | COSMIC |
| 8 | g.86670961T>A | CA180366454 | CNGB3 | c.476A>T (p.Glu159Val) n.237A>T c.62A>T (p.Glu21Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670961T>C | CA371450061 | CNGB3 | c.476A>G (p.Glu159Gly) n.237A>G c.62A>G (p.Glu21Gly) | |
| 8 | g.86670961T>G | CA371450062 | CNGB3 | c.476A>C (p.Glu159Ala) n.237A>C c.62A>C (p.Glu21Ala) | |
| 8 | g.86670961T= | CA1799829591 | CNGB3 | c.476A= (p.Glu159=) n.237A= c.62A= (p.Glu21=) | |
| 8 | g.86670962C>A | CA371450063 | CNGB3 | c.475G>T (p.Glu159Ter) n.236G>T c.61G>T (p.Glu21Ter) | |
| 8 | g.86670962C= | CA1799829603 | CNGB3 | c.475G= (p.Glu159=) n.236G= c.61G= (p.Glu21=) | |
| 8 | g.86670962C>G | CA371450064 | CNGB3 | c.475G>C (p.Glu159Gln) n.236G>C c.61G>C (p.Glu21Gln) | |
| 8 | g.86670962C>T | CA4800391 | CNGB3 | c.475G>A (p.Glu159Lys) n.236G>A c.61G>A (p.Glu21Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86670963G>A | CA4800392 | CNGB3 | c.474C>T (p.Pro158=) n.235C>T c.60C>T (p.Pro20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670963G>C | CA180366486 | CNGB3 | c.474C>G (p.Pro158=) n.235C>G c.60C>G (p.Pro20=) | ClinVar dbSNP |
| 8 | g.86670963G= | CA1799829622 | CNGB3 | c.474C= (p.Pro158=) n.235C= c.60C= (p.Pro20=) | |
| 8 | g.86670963G>T | CA4800393 | CNGB3 | c.474C>A (p.Pro158=) n.235C>A c.60C>A (p.Pro20=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670964G>A | CA371450065 | CNGB3 | c.473C>T (p.Pro158Leu) n.234C>T c.59C>T (p.Pro20Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86670964G>C | CA371450066 | CNGB3 | c.473C>G (p.Pro158Arg) n.234C>G c.59C>G (p.Pro20Arg) | |
| 8 | g.86670964G= | CA1799829631 | CNGB3 | c.473C= (p.Pro158=) n.234C= c.59C= (p.Pro20=) | |
| 8 | g.86670964G>T | CA371450067 | CNGB3 | c.473C>A (p.Pro158His) n.234C>A c.59C>A (p.Pro20His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670965G>A | CA371450068 | CNGB3 | c.472C>T (p.Pro158Ser) n.233C>T c.58C>T (p.Pro20Ser) | gnomAD v4 |
| 8 | g.86670965G>C | CA371450069 | CNGB3 | c.472C>G (p.Pro158Ala) n.233C>G c.58C>G (p.Pro20Ala) | |
| 8 | g.86670965G>T | CA371450070 | CNGB3 | c.472C>A (p.Pro158Thr) n.233C>A c.58C>A (p.Pro20Thr) | gnomAD v4 |
| 8 | g.86670966T>A | CA461831186 | CNGB3 | c.471A>T (p.Ser157=) n.232A>T c.57A>T (p.Ser19=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670966T>C | CA461831187 | CNGB3 | c.471A>G (p.Ser157=) n.232A>G c.57A>G (p.Ser19=) | |
| 8 | g.86670966T>G | CA461831188 | CNGB3 | c.471A>C (p.Ser157=) n.232A>C c.57A>C (p.Ser19=) | |
| 8 | g.86670966T= | CA1799829639 | CNGB3 | c.471A= (p.Ser157=) n.232A= c.57A= (p.Ser19=) | |
| 8 | g.86670967G>A | CA371450071 | CNGB3 | c.470C>T (p.Ser157Leu) n.231C>T c.56C>T (p.Ser19Leu) | |
| 8 | g.86670967G>C | CA371450072 | CNGB3 | c.470C>G (p.Ser157Ter) n.231C>G c.56C>G (p.Ser19Ter) | |
| 8 | g.86670967G>T | CA371450073 | CNGB3 | c.470C>A (p.Ser157Ter) n.231C>A c.56C>A (p.Ser19Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86670970_86670974del | CA2687826638 | CNGB3 | c.466_470del (p.Ser156ThrfsTer21) n.227_231del c.52_56del (p.Ser18ThrfsTer21) | gnomAD v4 |
| 8 | g.86670968A>C | CA371450074 | CNGB3 | c.469T>G (p.Ser157Ala) n.230T>G c.55T>G (p.Ser19Ala) | |
| 8 | g.86670968A>G | CA371450075 | CNGB3 | c.469T>C (p.Ser157Pro) n.230T>C c.55T>C (p.Ser19Pro) | |
| 8 | g.86670968A>T | CA371450076 | CNGB3 | c.469T>A (p.Ser157Thr) n.230T>A c.55T>A (p.Ser19Thr) | |
| 8 | g.86670969G>A | CA461831190 | CNGB3 | c.468C>T (p.Ser156=) n.229C>T c.54C>T (p.Ser18=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.86670969G>C | CA461831191 | CNGB3 | c.468C>G (p.Ser156=) n.229C>G c.54C>G (p.Ser18=) | |
| 8 | g.86670969G= | CA1799829652 | CNGB3 | c.468C= (p.Ser156=) n.229C= c.54C= (p.Ser18=) | |
| 8 | g.86670969G>T | CA461831192 | CNGB3 | c.468C>A (p.Ser156=) n.229C>A c.54C>A (p.Ser18=) | |
| 8 | g.86670970G>A | CA4800394 | CNGB3 | c.467C>T (p.Ser156Phe) n.228C>T c.53C>T (p.Ser18Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670970G>C | CA371450078 | CNGB3 | c.467C>G (p.Ser156Cys) n.228C>G c.53C>G (p.Ser18Cys) | |
| 8 | g.86670970G= | CA1799829665 | CNGB3 | c.467C= (p.Ser156=) n.228C= c.53C= (p.Ser18=) | |
| 8 | g.86670970G>T | CA371450077 | CNGB3 | c.467C>A (p.Ser156Tyr) n.228C>A c.53C>A (p.Ser18Tyr) | |
| 8 | g.86670971A= | CA1799829677 | CNGB3 | c.466T= (p.Ser156=) n.227T= c.52T= (p.Ser18=) | |
| 8 | g.86670971A>C | CA371450079 | CNGB3 | c.466T>G (p.Ser156Ala) n.227T>G c.52T>G (p.Ser18Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86670971A>G | CA371450081 | CNGB3 | c.466T>C (p.Ser156Pro) n.227T>C c.52T>C (p.Ser18Pro) | |
| 8 | g.86670971A>T | CA371450080 | CNGB3 | c.466T>A (p.Ser156Thr) n.227T>A c.52T>A (p.Ser18Thr) | |
| 8 | g.86670972G>A | CA461831194 | CNGB3 | c.465C>T (p.Leu155=) n.226C>T c.51C>T (p.Leu17=) | ClinVar |
| 8 | g.86670972G>C | CA180366511 | CNGB3 | c.465C>G (p.Leu155=) n.226C>G c.51C>G (p.Leu17=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670972G= | CA1799829680 | CNGB3 | c.465C= (p.Leu155=) n.226C= c.51C= (p.Leu17=) | |
| 8 | g.86670972G>T | CA461831196 | CNGB3 | c.465C>A (p.Leu155=) n.226C>A c.51C>A (p.Leu17=) | |
| 8 | g.86670973A>C | CA371450082 | CNGB3 | c.464T>G (p.Leu155Arg) n.225T>G c.50T>G (p.Leu17Arg) | |
| 8 | g.86670973A>G | CA371450083 | CNGB3 | c.464T>C (p.Leu155Pro) n.225T>C c.50T>C (p.Leu17Pro) | |
| 8 | g.86670973A>T | CA371450084 | CNGB3 | c.464T>A (p.Leu155His) n.225T>A c.50T>A (p.Leu17His) | |
| 8 | g.86670974G>A | CA371450085 | CNGB3 | c.463C>T (p.Leu155Phe) n.224C>T c.49C>T (p.Leu17Phe) | gnomAD v4 |
| 8 | g.86670974G>C | CA371450086 | CNGB3 | c.463C>G (p.Leu155Val) n.224C>G c.49C>G (p.Leu17Val) | gnomAD v4 |
| 8 | g.86670974G>T | CA371450087 | CNGB3 | c.463C>A (p.Leu155Ile) n.224C>A c.49C>A (p.Leu17Ile) | |
| 8 | g.86670975A>C | CA371450088 | CNGB3 | c.462T>G (p.Asp154Glu) n.223T>G c.48T>G (p.Asp16Glu) | |
| 8 | g.86670975A>G | CA461831198 | CNGB3 | c.462T>C (p.Asp154=) n.223T>C c.48T>C (p.Asp16=) | |
| 8 | g.86670975A>T | CA371450089 | CNGB3 | c.462T>A (p.Asp154Glu) n.223T>A c.48T>A (p.Asp16Glu) | |
| 8 | g.86670976T>A | CA371450090 | CNGB3 | c.461A>T (p.Asp154Val) n.222A>T c.47A>T (p.Asp16Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670976T>C | CA371450092 | CNGB3 | c.461A>G (p.Asp154Gly) n.222A>G c.47A>G (p.Asp16Gly) | COSMIC |
| 8 | g.86670976T>G | CA371450091 | CNGB3 | c.461A>C (p.Asp154Ala) n.222A>C c.47A>C (p.Asp16Ala) | gnomAD v4 |
| 8 | g.86670976T= | CA1799829688 | CNGB3 | c.461A= (p.Asp154=) n.222A= c.47A= (p.Asp16=) | |
| 8 | g.86670977C>A | CA371450093 | CNGB3 | c.460G>T (p.Asp154Tyr) n.221G>T c.46G>T (p.Asp16Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670977C= | CA1799829694 | CNGB3 | c.460G= (p.Asp154=) n.221G= c.46G= (p.Asp16=) | |
| 8 | g.86670977C>G | CA371450094 | CNGB3 | c.460G>C (p.Asp154His) n.221G>C c.46G>C (p.Asp16His) | |
| 8 | g.86670977C>T | CA371450095 | CNGB3 | c.460G>A (p.Asp154Asn) n.221G>A c.46G>A (p.Asp16Asn) | |
| 8 | g.86670978T>A | CA461831201 | CNGB3 | c.459A>T (p.Gly153=) n.220A>T c.45A>T (p.Gly15=) | gnomAD v4 |
| 8 | g.86670978T>C | CA461831203 | CNGB3 | c.459A>G (p.Gly153=) n.220A>G c.45A>G (p.Gly15=) | ClinVar dbSNP |
| 8 | g.86670978T>G | CA4800395 | CNGB3 | c.459A>C (p.Gly153=) n.220A>C c.45A>C (p.Gly15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670978T= | CA1799829706 | CNGB3 | c.459A= (p.Gly153=) n.220A= c.45A= (p.Gly15=) | |
| 8 | g.86670979C>A | CA371450096 | CNGB3 | c.458G>T (p.Gly153Val) n.219G>T c.44G>T (p.Gly15Val) | gnomAD v4 COSMIC |
| 8 | g.86670979C>G | CA371450098 | CNGB3 | c.458G>C (p.Gly153Ala) n.219G>C c.44G>C (p.Gly15Ala) | |
| 8 | g.86670979C>T | CA371450097 | CNGB3 | c.458G>A (p.Gly153Glu) n.219G>A c.44G>A (p.Gly15Glu) | gnomAD v4 COSMIC |
| 8 | g.86670980C>A | CA371450099 | CNGB3 | c.457G>T (p.Gly153Ter) n.218G>T c.43G>T (p.Gly15Ter) | |
| 8 | g.86670980C>G | CA371450100 | CNGB3 | c.457G>C (p.Gly153Arg) n.218G>C c.43G>C (p.Gly15Arg) | |
| 8 | g.86670980C>T | CA371450101 | CNGB3 | c.457G>A (p.Gly153Arg) n.218G>A c.43G>A (p.Gly15Arg) | gnomAD v4 |
| 8 | g.86670981C>A | CA371450102 | CNGB3 | c.456G>T (p.Glu152Asp) n.217G>T c.42G>T (p.Glu14Asp) | COSMIC |
| 8 | g.86670981C= | CA1799829714 | CNGB3 | c.456G= (p.Glu152=) n.217G= c.42G= (p.Glu14=) | |
| 8 | g.86670981C>G | CA371450103 | CNGB3 | c.456G>C (p.Glu152Asp) n.217G>C c.42G>C (p.Glu14Asp) | |
| 8 | g.86670981C>T | CA461831207 | CNGB3 | c.456G>A (p.Glu152=) n.217G>A c.42G>A (p.Glu14=) | dbSNP COSMIC |
| 8 | g.86670982T>A | CA371450104 | CNGB3 | c.455A>T (p.Glu152Val) n.216A>T c.41A>T (p.Glu14Val) | |
| 8 | g.86670982T>C | CA371450105 | CNGB3 | c.455A>G (p.Glu152Gly) n.216A>G c.41A>G (p.Glu14Gly) | |
| 8 | g.86670982T>G | CA371450106 | CNGB3 | c.455A>C (p.Glu152Ala) n.216A>C c.41A>C (p.Glu14Ala) | |
| 8 | g.86670983C>A | CA371450107 | CNGB3 | c.454G>T (p.Glu152Ter) n.215G>T c.40G>T (p.Glu14Ter) | gnomAD v4 |
| 8 | g.86670983C>G | CA371450108 | CNGB3 | c.454G>C (p.Glu152Gln) n.215G>C c.40G>C (p.Glu14Gln) | |
| 8 | g.86670983C>T | CA371450109 | CNGB3 | c.454G>A (p.Glu152Lys) n.215G>A c.40G>A (p.Glu14Lys) | ClinVar dbSNP |
| 8 | g.86670984T>A | CA461831210 | CNGB3 | c.453A>T (p.Val151=) n.214A>T c.39A>T (p.Val13=) | |
| 8 | g.86670984T>C | CA461831209 | CNGB3 | c.453A>G (p.Val151=) n.214A>G c.39A>G (p.Val13=) | COSMIC |
| 8 | g.86670984T>G | CA461831208 | CNGB3 | c.453A>C (p.Val151=) n.214A>C c.39A>C (p.Val13=) | |
| 8 | g.86670985A>C | CA371450110 | CNGB3 | c.452T>G (p.Val151Gly) n.213T>G c.38T>G (p.Val13Gly) | |
| 8 | g.86670985A>G | CA371450112 | CNGB3 | c.452T>C (p.Val151Ala) n.213T>C c.38T>C (p.Val13Ala) | gnomAD v4 |
| 8 | g.86670985A>T | CA371450111 | CNGB3 | c.452T>A (p.Val151Glu) n.213T>A c.38T>A (p.Val13Glu) | |
| 8 | g.86670986C>A | CA371450113 | CNGB3 | c.451G>T (p.Val151Leu) n.212G>T c.37G>T (p.Val13Leu) | COSMIC |
| 8 | g.86670986C>G | CA371450114 | CNGB3 | c.451G>C (p.Val151Leu) n.212G>C c.37G>C (p.Val13Leu) | |
| 8 | g.86670986C>T | CA371450115 | CNGB3 | c.451G>A (p.Val151Ile) n.212G>A c.37G>A (p.Val13Ile) | gnomAD v4 |
| 8 | g.86670987C>A | CA4800396 | CNGB3 | c.450G>T (p.Leu150Phe) n.211G>T c.36G>T (p.Leu12Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86670987C= | CA1799829726 | CNGB3 | c.450G= (p.Leu150=) n.211G= c.36G= (p.Leu12=) | |
| 8 | g.86670987C>G | CA371450116 | CNGB3 | c.450G>C (p.Leu150Phe) n.211G>C c.36G>C (p.Leu12Phe) | gnomAD v4 |
| 8 | g.86670987C>T | CA180366542 | CNGB3 | c.450G>A (p.Leu150=) n.211G>A c.36G>A (p.Leu12=) | |
| 8 | g.86670988A>C | CA371450117 | CNGB3 | c.449T>G (p.Leu150Trp) n.210T>G c.35T>G (p.Leu12Trp) | |
| 8 | g.86670988A>G | CA371450118 | CNGB3 | c.449T>C (p.Leu150Ser) n.210T>C c.35T>C (p.Leu12Ser) | |
| 8 | g.86670988A>T | CA371450119 | CNGB3 | c.449T>A (p.Leu150Ter) n.210T>A c.35T>A (p.Leu12Ter) | |
| 8 | g.86670989A= | CA1799829740 | CNGB3 | c.448T= (p.Leu150=) n.209T= c.34T= (p.Leu12=) | |
| 8 | g.86670989A>C | CA371450120 | CNGB3 | c.448T>G (p.Leu150Val) n.209T>G c.34T>G (p.Leu12Val) | |
| 8 | g.86670989A>G | CA4800397 | CNGB3 | c.448T>C (p.Leu150=) n.209T>C c.34T>C (p.Leu12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670989A>T | CA371450121 | CNGB3 | c.448T>A (p.Leu150Met) n.209T>A c.34T>A (p.Leu12Met) | |
| 8 | g.86670989_86670992delinsACTT | CA1799829744 | CNGB3 | c.445_448delinsAAGT (p.Lys149=) n.206_209delinsAAGT c.31_34delinsAAGT (p.Lys11=) | |
| 8 | g.86670990C>A | CA371450123 | CNGB3 | c.447G>T (p.Lys149Asn) n.208G>T c.33G>T (p.Lys11Asn) | |
| 8 | g.86670990C= | CA1799829755 | CNGB3 | c.447G= (p.Lys149=) n.208G= c.33G= (p.Lys11=) | |
| 8 | g.86670990C>G | CA371450122 | CNGB3 | c.447G>C (p.Lys149Asn) n.208G>C c.33G>C (p.Lys11Asn) | gnomAD v4 COSMIC |
| 8 | g.86670990C>T | CA461831214 | CNGB3 | c.447G>A (p.Lys149=) n.208G>A c.33G>A (p.Lys11=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86670990_86670992delinsA | CA658821866 | CNGB3 | c.445_447delinsT (p.Lys149PhefsTer29) n.206_208delinsT c.31_33delinsT (p.Lys11PhefsTer29) | ClinVar dbSNP |
| 8 | g.86670990_86670991insA | CA4800398 | CNGB3 | c.446_447insT (p.Lys149AsnfsTer30) n.207_208insT c.32_33insT (p.Lys11AsnfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.[86670990_86670991insA;86670995T>C] | CA2573318206 | CNGB3 | c.[442A>G;446_447insT] (p.[Lys148Glu;Lys149AsnfsTer30]) n.[203A>G;207_208insT] c.[28A>G;32_33insT] (p.[Lys10Glu;Lys11AsnfsTer30]) | ClinVar |
| 8 | g.86670991T>A | CA371450124 | CNGB3 | c.446A>T (p.Lys149Met) n.207A>T c.32A>T (p.Lys11Met) | |
| 8 | g.86670991T>C | CA371450125 | CNGB3 | c.446A>G (p.Lys149Arg) n.207A>G c.32A>G (p.Lys11Arg) | |
| 8 | g.86670991T>G | CA371450126 | CNGB3 | c.446A>C (p.Lys149Thr) n.207A>C c.32A>C (p.Lys11Thr) | |
| 8 | g.86670991T= | CA1799829767 | CNGB3 | c.446A= (p.Lys149=) n.207A= c.32A= (p.Lys11=) | |
| 8 | g.86670991_86670995delinsATTTTC | CA2573053056 | CNGB3 | c.442_446delinsGAAAAT (p.Lys148GlufsTer31) n.203_207delinsGAAAAT c.28_32delinsGAAAAT (p.Lys10GlufsTer31) | ClinVar dbSNP |
| 8 | g.86670995del | CA2687826642 | CNGB3 | c.446del (p.Lys149SerfsTer3) n.207del c.32del (p.Lys11SerfsTer3) | gnomAD v4 |
| 8 | g.86670991_86671009delinsTTTTTCTTGTAGAGGGCTG | CA1799829770 | CNGB3 | c.428_446delinsCAGCCCTCTACAAGAAAAA (p.Thr143=) n.189_207delinsCAGCCCTCTACAAGAAAAA c.14_32delinsCAGCCCTCTACAAGAAAAA (p.Thr5=) | |
| 8 | g.86670991_86670992insA | CA1139660622 | CNGB3 | c.445_446insT (p.Lys149IlefsTer30) n.206_207insT c.31_32insT (p.Lys11IlefsTer30) | ClinVar dbSNP |
| 8 | g.86670992T>A | CA371450127 | CNGB3 | c.445A>T (p.Lys149Ter) n.206A>T c.31A>T (p.Lys11Ter) | |
| 8 | g.86670992T>C | CA371450128 | CNGB3 | c.445A>G (p.Lys149Glu) n.206A>G c.31A>G (p.Lys11Glu) | |
| 8 | g.86670992T>G | CA371450129 | CNGB3 | c.445A>C (p.Lys149Gln) n.206A>C c.31A>C (p.Lys11Gln) | |
| 8 | g.86670994_86671011del | CA583366212 | CNGB3 | c.428_445del (p.Thr143_Lys148del) n.189_206del c.14_31del (p.Thr5_Lys10del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86670993T>A | CA371450130 | CNGB3 | c.444A>T (p.Lys148Asn) n.205A>T c.30A>T (p.Lys10Asn) | |
| 8 | g.86670993T>C | CA461831217 | CNGB3 | c.444A>G (p.Lys148=) n.205A>G c.30A>G (p.Lys10=) | |
| 8 | g.86670993T>G | CA371450131 | CNGB3 | c.444A>C (p.Lys148Asn) n.205A>C c.30A>C (p.Lys10Asn) | |
| 8 | g.86670994T>A | CA371450132 | CNGB3 | c.443A>T (p.Lys148Ile) n.204A>T c.29A>T (p.Lys10Ile) | |
| 8 | g.86670994T>C | CA371450133 | CNGB3 | c.443A>G (p.Lys148Arg) n.204A>G c.29A>G (p.Lys10Arg) | |
| 8 | g.86670994T>G | CA371450134 | CNGB3 | c.443A>C (p.Lys148Thr) n.204A>C c.29A>C (p.Lys10Thr) | |
| 8 | g.86670995T>A | CA371450136 | CNGB3 | c.442A>T (p.Lys148Ter) n.203A>T c.28A>T (p.Lys10Ter) | |
| 8 | g.86670995T>C | CA4800399 | CNGB3 | c.442A>G (p.Lys148Glu) n.203A>G c.28A>G (p.Lys10Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670995T>G | CA371450135 | CNGB3 | c.442A>C (p.Lys148Gln) n.203A>C c.28A>C (p.Lys10Gln) | |
| 8 | g.86670995T= | CA1799829780 | CNGB3 | c.442A= (p.Lys148=) n.203A= c.28A= (p.Lys10=) | |
| 8 | g.86670996C>A | CA4800400 | CNGB3 | c.441G>T (p.Lys147Asn) n.202G>T c.27G>T (p.Lys9Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670996C= | CA1799829791 | CNGB3 | c.441G= (p.Lys147=) n.202G= c.27G= (p.Lys9=) | |
| 8 | g.86670996C>G | CA371450137 | CNGB3 | c.441G>C (p.Lys147Asn) n.202G>C c.27G>C (p.Lys9Asn) | |
| 8 | g.86670996C>T | CA461831220 | CNGB3 | c.441G>A (p.Lys147=) n.202G>A c.27G>A (p.Lys9=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86670997T>A | CA371450138 | CNGB3 | c.440A>T (p.Lys147Met) n.201A>T c.26A>T (p.Lys9Met) | |
| 8 | g.86670997T>C | CA4800401 | CNGB3 | c.440A>G (p.Lys147Arg) n.201A>G c.26A>G (p.Lys9Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86670997T>G | CA371450139 | CNGB3 | c.440A>C (p.Lys147Thr) n.201A>C c.26A>C (p.Lys9Thr) | |
| 8 | g.86670997T= | CA1799829799 | CNGB3 | c.440A= (p.Lys147=) n.201A= c.26A= (p.Lys9=) | |
| 8 | g.86670998T>A | CA371450140 | CNGB3 | c.439A>T (p.Lys147Ter) n.200A>T c.25A>T (p.Lys9Ter) | |
| 8 | g.86670998T>C | CA4800402 | CNGB3 | c.439A>G (p.Lys147Glu) n.200A>G c.25A>G (p.Lys9Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86670998T>G | CA371450141 | CNGB3 | c.439A>C (p.Lys147Gln) n.200A>C c.25A>C (p.Lys9Gln) | |
| 8 | g.86670998T= | CA1799829807 | CNGB3 | c.439A= (p.Lys147=) n.200A= c.25A= (p.Lys9=) | |
| 8 | g.86670999G>A | CA461831223 | CNGB3 | c.438C>T (p.Tyr146=) n.199C>T c.24C>T (p.Tyr8=) | |
| 8 | g.86670999G>C | CA371450143 | CNGB3 | c.438C>G (p.Tyr146Ter) n.199C>G c.24C>G (p.Tyr8Ter) | COSMIC |
| 8 | g.86670999G>T | CA371450142 | CNGB3 | c.438C>A (p.Tyr146Ter) n.199C>A c.24C>A (p.Tyr8Ter) | |
| 8 | g.86671000T>A | CA371450144 | CNGB3 | c.437A>T (p.Tyr146Phe) n.198A>T c.23A>T (p.Tyr8Phe) | COSMIC |
| 8 | g.86671000T>C | CA371450145 | CNGB3 | c.437A>G (p.Tyr146Cys) n.198A>G c.23A>G (p.Tyr8Cys) | |
| 8 | g.86671000T>G | CA371450146 | CNGB3 | c.437A>C (p.Tyr146Ser) n.198A>C c.23A>C (p.Tyr8Ser) | |
| 8 | g.86671001A>C | CA371450147 | CNGB3 | c.436T>G (p.Tyr146Asp) n.197T>G c.22T>G (p.Tyr8Asp) | |
| 8 | g.86671001A>G | CA371450148 | CNGB3 | c.436T>C (p.Tyr146His) n.197T>C c.22T>C (p.Tyr8His) | COSMIC |
| 8 | g.86671001A>T | CA371450149 | CNGB3 | c.436T>A (p.Tyr146Asn) n.197T>A c.22T>A (p.Tyr8Asn) | |
| 8 | g.86671002G>A | CA461831226 | CNGB3 | c.435C>T (p.Leu145=) n.196C>T c.21C>T (p.Leu7=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86671002G>C | CA461831228 | CNGB3 | c.435C>G (p.Leu145=) n.196C>G c.21C>G (p.Leu7=) | |
| 8 | g.86671002G= | CA1799829812 | CNGB3 | c.435C= (p.Leu145=) n.196C= c.21C= (p.Leu7=) | |
| 8 | g.86671002G>T | CA461831229 | CNGB3 | c.435C>A (p.Leu145=) n.196C>A c.21C>A (p.Leu7=) | |
| 8 | g.86671003A>C | CA371450150 | CNGB3 | c.434T>G (p.Leu145Arg) n.195T>G c.20T>G (p.Leu7Arg) | |
| 8 | g.86671003A>G | CA371450152 | CNGB3 | c.434T>C (p.Leu145Pro) n.195T>C c.20T>C (p.Leu7Pro) | COSMIC |
| 8 | g.86671003A>T | CA371450151 | CNGB3 | c.434T>A (p.Leu145His) n.195T>A c.20T>A (p.Leu7His) | |
| 8 | g.86671004G>A | CA371450153 | CNGB3 | c.433C>T (p.Leu145Phe) n.194C>T c.19C>T (p.Leu7Phe) | gnomAD v4 |
| 8 | g.86671004G>C | CA371450154 | CNGB3 | c.433C>G (p.Leu145Val) n.194C>G c.19C>G (p.Leu7Val) | |
| 8 | g.86671004G>T | CA371450155 | CNGB3 | c.433C>A (p.Leu145Ile) n.194C>A c.19C>A (p.Leu7Ile) | gnomAD v4 |
| 8 | g.86671005G>A | CA461831230 | CNGB3 | c.432C>T (p.Ala144=) n.193C>T c.18C>T (p.Ala6=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86671005G>C | CA461831232 | CNGB3 | c.432C>G (p.Ala144=) n.193C>G c.18C>G (p.Ala6=) | |
| 8 | g.86671005G= | CA1799829817 | CNGB3 | c.432C= (p.Ala144=) n.193C= c.18C= (p.Ala6=) | |
| 8 | g.86671005G>T | CA461831231 | CNGB3 | c.432C>A (p.Ala144=) n.193C>A c.18C>A (p.Ala6=) | |
| 8 | g.86671006G>A | CA371450156 | CNGB3 | c.431C>T (p.Ala144Val) n.192C>T c.17C>T (p.Ala6Val) | gnomAD v4 |
| 8 | g.86671006G>C | CA371450157 | CNGB3 | c.431C>G (p.Ala144Gly) n.192C>G c.17C>G (p.Ala6Gly) | |
| 8 | g.86671006G>T | CA371450158 | CNGB3 | c.431C>A (p.Ala144Asp) n.192C>A c.17C>A (p.Ala6Asp) | |
| 8 | g.86671007C>A | CA371450159 | CNGB3 | c.430G>T (p.Ala144Ser) n.191G>T c.16G>T (p.Ala6Ser) | |
| 8 | g.86671007C>G | CA371450160 | CNGB3 | c.430G>C (p.Ala144Pro) n.191G>C c.16G>C (p.Ala6Pro) | |
| 8 | g.86671007C>T | CA371450161 | CNGB3 | c.430G>A (p.Ala144Thr) n.191G>A c.16G>A (p.Ala6Thr) | gnomAD v4 |
| 8 | g.86671008T>A | CA461831234 | CNGB3 | c.429A>T (p.Thr143=) n.190A>T c.15A>T (p.Thr5=) | |
| 8 | g.86671008T>C | CA461831235 | CNGB3 | c.429A>G (p.Thr143=) n.190A>G c.15A>G (p.Thr5=) | |
| 8 | g.86671008T>G | CA461831237 | CNGB3 | c.429A>C (p.Thr143=) n.190A>C c.15A>C (p.Thr5=) | |
| 8 | g.86671009G>A | CA371450162 | CNGB3 | c.428C>T (p.Thr143Ile) n.189C>T c.14C>T (p.Thr5Ile) | |
| 8 | g.86671009G>C | CA371450163 | CNGB3 | c.428C>G (p.Thr143Arg) n.189C>G c.14C>G (p.Thr5Arg) | dbSNP |
| 8 | g.86671009G= | CA1799829822 | CNGB3 | c.428C= (p.Thr143=) n.189C= c.14C= (p.Thr5=) | |
| 8 | g.86671009G>T | CA371450164 | CNGB3 | c.428C>A (p.Thr143Lys) n.189C>A c.14C>A (p.Thr5Lys) | |
| 8 | g.86671010T>A | CA371450165 | CNGB3 | c.427A>T (p.Thr143Ser) n.188A>T c.13A>T (p.Thr5Ser) | |
| 8 | g.86671010T>C | CA371450167 | CNGB3 | c.427A>G (p.Thr143Ala) n.188A>G c.13A>G (p.Thr5Ala) | |
| 8 | g.86671010T>G | CA371450166 | CNGB3 | c.427A>C (p.Thr143Pro) n.188A>C c.13A>C (p.Thr5Pro) | |
| 8 | g.86671011T>A | CA371450168 | CNGB3 | c.426A>T (p.Arg142Ser) n.187A>T c.12A>T (p.Arg4Ser) | |
| 8 | g.86671011T>C | CA461831239 | CNGB3 | c.426A>G (p.Arg142=) n.187A>G c.12A>G (p.Arg4=) | |
| 8 | g.86671011T>G | CA371450169 | CNGB3 | c.426A>C (p.Arg142Ser) n.187A>C c.12A>C (p.Arg4Ser) | |
| 8 | g.86671012C>A | CA371450170 | CNGB3 | c.425G>T (p.Arg142Ile) n.186G>T c.11G>T (p.Arg4Ile) | |
| 8 | g.86671012C= | CA1799829826 | CNGB3 | c.425G= (p.Arg142=) n.186G= c.11G= (p.Arg4=) | |
| 8 | g.86671012C>G | CA371450171 | CNGB3 | c.425G>C (p.Arg142Thr) n.186G>C c.11G>C (p.Arg4Thr) | |
| 8 | g.86671012C>T | CA180366560 | CNGB3 | c.425G>A (p.Arg142Lys) n.186G>A c.11G>A (p.Arg4Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86671013T>A | CA371450172 | CNGB3 | c.424A>T (p.Arg142Ter) n.185A>T c.10A>T (p.Arg4Ter) | |
| 8 | g.86671013T>C | CA371450173 | CNGB3 | c.424A>G (p.Arg142Gly) n.185A>G c.10A>G (p.Arg4Gly) | ClinVar dbSNP |
| 8 | g.86671013T>G | CA461831240 | CNGB3 | c.424A>C (p.Arg142=) n.185A>C c.10A>C (p.Arg4=) | |
| 8 | g.86671013T= | CA1799829832 | CNGB3 | c.424A= (p.Arg142=) n.185A= c.10A= (p.Arg4=) | |
| 8 | g.86671014T>A | CA371450174 | CNGB3 | c.423A>T (p.Gln141His) n.184A>T c.9A>T (p.Gln3His) | |
| 8 | g.86671014T>C | CA461831241 | CNGB3 | c.423A>G (p.Gln141=) n.184A>G c.9A>G (p.Gln3=) | |
| 8 | g.86671014T>G | CA371450175 | CNGB3 | c.423A>C (p.Gln141His) n.184A>C c.9A>C (p.Gln3His) | |
| 8 | g.86671015T>A | CA371450176 | CNGB3 | c.422A>T (p.Gln141Leu) n.183A>T c.8A>T (p.Gln3Leu) | |
| 8 | g.86671015T>C | CA371450177 | CNGB3 | c.422A>G (p.Gln141Arg) n.183A>G c.8A>G (p.Gln3Arg) | |
| 8 | g.86671015T>G | CA371450178 | CNGB3 | c.422A>C (p.Gln141Pro) n.183A>C c.8A>C (p.Gln3Pro) | |
| 8 | g.86671016G>A | CA371450181 | CNGB3 | c.421C>T (p.Gln141Ter) n.182C>T c.7C>T (p.Gln3Ter) | |
| 8 | g.86671016G>C | CA371450179 | CNGB3 | c.421C>G (p.Gln141Glu) n.182C>G c.7C>G (p.Gln3Glu) | |
| 8 | g.86671016G>T | CA371450180 | CNGB3 | c.421C>A (p.Gln141Lys) n.182C>A c.7C>A (p.Gln3Lys) | COSMIC |
| 8 | g.86671017A>C | CA461831243 | CNGB3 | c.420T>G (p.Arg140=) n.181T>G c.6T>G (p.Arg2=) | |
| 8 | g.86671017A>G | CA461831245 | CNGB3 | c.420T>C (p.Arg140=) n.181T>C c.6T>C (p.Arg2=) | ClinVar dbSNP |
| 8 | g.86671017A>T | CA461831244 | CNGB3 | c.420T>A (p.Arg140=) n.181T>A c.6T>A (p.Arg2=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86671018C>A | CA4800403 | CNGB3 | c.419G>T (p.Arg140Leu) n.180G>T c.5G>T (p.Arg2Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86671018C= | CA1799829838 | CNGB3 | c.419G= (p.Arg140=) n.180G= c.5G= (p.Arg2=) | |
| 8 | g.86671018C>G | CA371450182 | CNGB3 | c.419G>C (p.Arg140Pro) n.180G>C c.5G>C (p.Arg2Pro) | |
| 8 | g.86671018C>T | CA4800404 | CNGB3 | c.419G>A (p.Arg140His) n.180G>A c.5G>A (p.Arg2His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86671019G>A | CA4800405 | CNGB3 | c.418C>T (p.Arg140Cys) n.179C>T c.4C>T (p.Arg2Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86671019G>C | CA371450183 | CNGB3 | c.418C>G (p.Arg140Gly) n.179C>G c.4C>G (p.Arg2Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86671019G= | CA1799829848 | CNGB3 | c.418C= (p.Arg140=) n.179C= c.4C= (p.Arg2=) | |
| 8 | g.86671019G>T | CA371450184 | CNGB3 | c.418C>A (p.Arg140Ser) n.179C>A c.4C>A (p.Arg2Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86671020C>A | CA371450185 | CNGB3 | c.417G>T (p.Met139Ile) n.178G>T c.3G>T (p.Met1Ile) | |
| 8 | g.86671020C>G | CA371450186 | CNGB3 | c.417G>C (p.Met139Ile) n.178G>C c.3G>C (p.Met1Ile) | |
| 8 | g.86671020C>T | CA371450187 | CNGB3 | c.417G>A (p.Met139Ile) n.178G>A c.3G>A (p.Met1Ile) | |
| 8 | g.86671021A= | CA1799829850 | CNGB3 | c.416T= (p.Met139=) n.177T= c.2T= (p.Met1=) | |
| 8 | g.86671021A>C | CA371450188 | CNGB3 | c.416T>G (p.Met139Arg) n.177T>G c.2T>G (p.Met1Arg) | |
| 8 | g.86671021A>G | CA371450189 | CNGB3 | c.416T>C (p.Met139Thr) n.177T>C c.2T>C (p.Met1Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86671021A>T | CA371450190 | CNGB3 | c.416T>A (p.Met139Lys) n.177T>A c.2T>A (p.Met1Lys) | |
| 8 | g.86671022T>A | CA371450192 | CNGB3 | c.415A>T (p.Met139Leu) n.176A>T c.1A>T (p.Met1Leu) | |
| 8 | g.86671022T>C | CA371450193 | CNGB3 | c.415A>G (p.Met139Val) n.176A>G c.1A>G (p.Met1Val) | |
| 8 | g.86671022T>G | CA371450191 | CNGB3 | c.415A>C (p.Met139Leu) n.176A>C c.1A>C (p.Met1Leu) | |
| 8 | g.86671023T>A | CA371450194 | CNGB3 | c.414A>T (p.Arg138Ser) n.175A>T c.-1A>T (n.-1A>T) | ClinVar dbSNP |
| 8 | g.86671023T>C | CA461831250 | CNGB3 | c.414A>G (p.Arg138=) n.175A>G c.-1A>G (n.-1A>G) | |
| 8 | g.86671023T>G | CA371450195 | CNGB3 | c.414A>C (p.Arg138Ser) n.175A>C c.-1A>C (n.-1A>C) | |
| 8 | g.86671023T= | CA1799829855 | CNGB3 | c.414A= (p.Arg138=) n.175A= c.-1A= (n.-1A=) | |
| 8 | g.86671024C>A | CA371450196 | CNGB3 | c.413G>T (p.Arg138Ile) n.174G>T c.-2G>T (n.-2G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86671024C= | CA1799829864 | CNGB3 | c.413G= (p.Arg138=) n.174G= c.-2G= (n.-2G=) | |
| 8 | g.86671024C>G | CA371450198 | CNGB3 | c.413G>C (p.Arg138Thr) n.174G>C c.-2G>C (n.-2G>C) | |
| 8 | g.86671024C>T | CA371450197 | CNGB3 | c.413G>A (p.Arg138Lys) n.174G>A c.-2G>A (n.-2G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86671024_86671025delinsCT | CA1799829862 | CNGB3 | c.412_413delinsAG (p.Arg138=) n.173_174delinsAG c.-3_-2delinsAG (n.-3_-2delinsAG) | |
| 8 | g.86671025T>A | CA371450199 | CNGB3 | c.412A>T (p.Arg138Ter) n.173A>T c.-3A>T (n.-3A>T) | |
| 8 | g.86671025T>C | CA371450200 | CNGB3 | c.412A>G (p.Arg138Gly) n.173A>G c.-3A>G (n.-3A>G) | |
| 8 | g.86671025T>G | CA461831252 | CNGB3 | c.412A>C (p.Arg138=) n.173A>C c.-3A>C (n.-3A>C) | ClinVar dbSNP |
| 8 | g.86671028del | CA16041197 | CNGB3 | c.412del (p.Arg138GlufsTer14) n.173del c.-3del (n.-3del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86671026T>A | CA371450201 | CNGB3 | c.411A>T (p.Lys137Asn) n.172A>T c.-4A>T (n.-4A>T) | |
| 8 | g.86671026T>C | CA461831253 | CNGB3 | c.411A>G (p.Lys137=) n.172A>G c.-4A>G (n.-4A>G) | |
| 8 | g.86671026T>G | CA371450202 | CNGB3 | c.411A>C (p.Lys137Asn) n.172A>C c.-4A>C (n.-4A>C) | |
| 8 | g.86671027T>A | CA371450203 | CNGB3 | c.410A>T (p.Lys137Ile) n.171A>T c.-5A>T (n.-5A>T) | |
| 8 | g.86671027T>C | CA371450204 | CNGB3 | c.410A>G (p.Lys137Arg) n.171A>G c.-5A>G (n.-5A>G) | |
| 8 | g.86671027T>G | CA371450205 | CNGB3 | c.410A>C (p.Lys137Thr) n.171A>C c.-5A>C (n.-5A>C) | |
| 8 | g.86671028T>A | CA371450206 | CNGB3 | c.409A>T (p.Lys137Ter) n.170A>T c.-6A>T (n.-6A>T) | ClinVar |
| 8 | g.86671028T>C | CA371450207 | CNGB3 | c.409A>G (p.Lys137Glu) n.170A>G c.-6A>G (n.-6A>G) | |
| 8 | g.86671028T>G | CA371450208 | CNGB3 | c.409A>C (p.Lys137Gln) n.170A>C c.-6A>C (n.-6A>C) | |
| 8 | g.86671029C>A | CA461831254 | CNGB3 | c.408G>T (p.Val136=) n.169G>T c.-7G>T (n.-7G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86671029C= | CA1799829878 | CNGB3 | c.408G= (p.Val136=) n.169G= c.-7G= (n.-7G=) | |
| 8 | g.86671029C>G | CA461831255 | CNGB3 | c.408G>C (p.Val136=) n.169G>C c.-7G>C (n.-7G>C) | |
| 8 | g.86671029C>T | CA461831256 | CNGB3 | c.408G>A (p.Val136=) n.169G>A c.-7G>A (n.-7G>A) | COSMIC |
| 8 | g.86671030A= | CA1799829885 | CNGB3 | c.407T= (p.Val136=) n.168T= c.-8T= (n.-8T=) | |
| 8 | g.86671030A>C | CA371450211 | CNGB3 | c.407T>G (p.Val136Gly) n.168T>G c.-8T>G (n.-8T>G) | |
| 8 | g.86671030A>G | CA371450209 | CNGB3 | c.407T>C (p.Val136Ala) n.168T>C c.-8T>C (n.-8T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86671030A>T | CA371450210 | CNGB3 | c.407T>A (p.Val136Glu) n.168T>A c.-8T>A (n.-8T>A) | |
| 8 | g.86671031C>A | CA371450212 | CNGB3 | c.406G>T (p.Val136Leu) n.167G>T c.-9G>T (n.-9G>T) | |
| 8 | g.86671031C= | CA1799829889 | CNGB3 | c.406G= (p.Val136=) n.167G= c.-9G= (n.-9G=) | |
| 8 | g.86671031C>G | CA371450213 | CNGB3 | c.406G>C (p.Val136Leu) n.167G>C c.-9G>C (n.-9G>C) | |
| 8 | g.86671031C>T | CA371450214 | CNGB3 | c.406G>A (p.Val136Met) n.167G>A c.-9G>A (n.-9G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86671032C>A | CA461831260 | CNGB3 | c.405G>T (p.Leu135=) n.166G>T c.-10G>T (n.-10G>T) | ClinVar |
| 8 | g.86671032C= | CA1799829892 | CNGB3 | c.405G= (p.Leu135=) n.166G= c.-10G= (n.-10G=) | |
| 8 | g.86671032C>G | CA461831261 | CNGB3 | c.405G>C (p.Leu135=) n.166G>C c.-10G>C (n.-10G>C) | |
| 8 | g.86671032C>T | CA461831262 | CNGB3 | c.405G>A (p.Leu135=) n.166G>A c.-10G>A (n.-10G>A) | dbSNP |
| 8 | g.86671033A>C | CA371450215 | CNGB3 | c.404T>G (p.Leu135Arg) n.165T>G c.-11T>G (n.-11T>G) | |
| 8 | g.86671033A>G | CA371450216 | CNGB3 | c.404T>C (p.Leu135Pro) n.165T>C c.-11T>C (n.-11T>C) | COSMIC |
| 8 | g.86671033A>T | CA371450217 | CNGB3 | c.404T>A (p.Leu135Gln) n.165T>A c.-11T>A (n.-11T>A) | |
| 8 | g.86671034G>A | CA461831263 | CNGB3 | c.403C>T (p.Leu135=) n.164C>T c.-12C>T (n.-12C>T) | |
| 8 | g.86671034G>C | CA4800406 | CNGB3 | c.403C>G (p.Leu135Val) n.164C>G c.-12C>G (n.-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86671034G= | CA1799829895 | CNGB3 | c.403C= (p.Leu135=) n.164C= c.-12C= (n.-12C=) | |
| 8 | g.86671034G>T | CA4800407 | CNGB3 | c.403C>A (p.Leu135Met) n.164C>A c.-12C>A (n.-12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86671035G>A | CA461831265 | CNGB3 | c.402C>T (p.Asn134=) n.163C>T c.-13C>T (n.-13C>T) | |
| 8 | g.86671035G>C | CA371450218 | CNGB3 | c.402C>G (p.Asn134Lys) n.163C>G c.-13C>G (n.-13C>G) | |
| 8 | g.86671035G>T | CA371450219 | CNGB3 | c.402C>A (p.Asn134Lys) n.163C>A c.-13C>A (n.-13C>A) | |
| 8 | g.86671036T>A | CA371450222 | CNGB3 | c.401A>T (p.Asn134Ile) n.162A>T c.-14A>T (n.-14A>T) | |
| 8 | g.86671036T>C | CA371450221 | CNGB3 | c.401A>G (p.Asn134Ser) n.162A>G c.-14A>G (n.-14A>G) | |
| 8 | g.86671036T>G | CA371450220 | CNGB3 | c.401A>C (p.Asn134Thr) n.162A>C c.-14A>C (n.-14A>C) | |
| 8 | g.86671037T>A | CA371450223 | CNGB3 | c.400A>T (p.Asn134Tyr) n.161A>T c.-15A>T (n.-15A>T) | |
| 8 | g.86671037T>C | CA371450224 | CNGB3 | c.400A>G (p.Asn134Asp) n.161A>G c.-15A>G (n.-15A>G) | |
| 8 | g.86671037T>G | CA371450225 | CNGB3 | c.400A>C (p.Asn134His) n.161A>C c.-15A>C (n.-15A>C) | |
| 8 | g.86671038G>A | CA461831269 | CNGB3 | c.399C>T (p.His133=) n.160C>T c.-16C>T (n.-16C>T) | dbSNP COSMIC |
| 8 | g.86671038G>C | CA371450226 | CNGB3 | c.399C>G (p.His133Gln) n.160C>G c.-16C>G (n.-16C>G) | gnomAD v4 |
| 8 | g.86671038G= | CA1799829901 | CNGB3 | c.399C= (p.His133=) n.160C= c.-16C= (n.-16C=) | |
| 8 | g.86671038G>T | CA371450227 | CNGB3 | c.399C>A (p.His133Gln) n.160C>A c.-16C>A (n.-16C>A) | |
| 8 | g.86671039T>A | CA371450228 | CNGB3 | c.398A>T (p.His133Leu) n.159A>T c.-17A>T (n.-17A>T) | |
| 8 | g.86671039T>C | CA371450229 | CNGB3 | c.398A>G (p.His133Arg) n.159A>G c.-17A>G (n.-17A>G) | |
| 8 | g.86671039T>G | CA180366580 | CNGB3 | c.398A>C (p.His133Pro) n.159A>C c.-17A>C (n.-17A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86671039T= | CA1799829904 | CNGB3 | c.398A= (p.His133=) n.159A= c.-17A= (n.-17A=) | |
| 8 | g.86671040G>A | CA4800408 | CNGB3 | c.397C>T (p.His133Tyr) n.158C>T c.-18C>T (n.-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86671040G>C | CA371450230 | CNGB3 | c.397C>G (p.His133Asp) n.158C>G c.-18C>G (n.-18C>G) | |
| 8 | g.86671040G= | CA1799829907 | CNGB3 | c.397C= (p.His133=) n.158C= c.-18C= (n.-18C=) | |
| 8 | g.86671040G>T | CA371450231 | CNGB3 | c.397C>A (p.His133Asn) n.158C>A c.-18C>A (n.-18C>A) | |
| 8 | g.86671041T>A | CA461831272 | CNGB3 | c.396A>T (p.Leu132=) n.157A>T c.-19A>T (n.-19A>T) | |
| 8 | g.86671041T>C | CA461831273 | CNGB3 | c.396A>G (p.Leu132=) n.157A>G c.-19A>G (n.-19A>G) | ClinVar gnomAD v4 |
| 8 | g.86671041T>G | CA461831274 | CNGB3 | c.396A>C (p.Leu132=) n.157A>C c.-19A>C (n.-19A>C) | |
| 8 | g.86671042A>C | CA371450234 | CNGB3 | c.395T>G (p.Leu132Arg) n.156T>G c.-20T>G (n.-20T>G) | |
| 8 | g.86671042A>G | CA371450233 | CNGB3 | c.395T>C (p.Leu132Pro) n.156T>C c.-20T>C (n.-20T>C) | gnomAD v4 |
| 8 | g.86671042A>T | CA371450232 | CNGB3 | c.395T>A (p.Leu132Gln) n.156T>A c.-20T>A (n.-20T>A) | |
| 8 | g.86671042_86671044delinsAGC | CA1799829912 | CNGB3 | c.393_395delinsGCT (p.Gln131=) n.154_156delinsGCT c.-22_-20delinsGCT (n.-22_-20delinsGCT) | |
| 8 | g.86671043G>A | CA461831275 | CNGB3 | c.394C>T (p.Leu132=) n.155C>T c.-21C>T (n.-21C>T) | |
| 8 | g.86671043G>C | CA371450235 | CNGB3 | c.394C>G (p.Leu132Val) n.155C>G c.-21C>G (n.-21C>G) | |
| 8 | g.86671043G>T | CA371450236 | CNGB3 | c.394C>A (p.Leu132Ile) n.155C>A c.-21C>A (n.-21C>A) | |
| 8 | g.86671043_86671044delinsTCACCAGGA | CA645372851 | CNGB3 | c.393_394delinsTCCTGGTGA (p.Gln131HisfsTer?) n.154_155delinsTCCTGGTGA c.-22_-21delinsTCCTGGTGA (n.-22_-21delinsTCCTGGTGA) | ClinVar dbSNP |
| 8 | g.86671044C>A | CA371450237 | CNGB3 | c.393G>T (p.Gln131His) n.154G>T c.-22G>T (n.-22G>T) | |
| 8 | g.86671044C>G | CA371450238 | CNGB3 | c.393G>C (p.Gln131His) n.154G>C c.-22G>C (n.-22G>C) | |
| 8 | g.86671044C>T | CA461831277 | CNGB3 | c.393G>A (p.Gln131=) n.154G>A c.-22G>A (n.-22G>A) | |
| 8 | g.86671045T>A | CA371450239 | CNGB3 | c.392A>T (p.Gln131Leu) n.153A>T c.-23A>T (n.-23A>T) | |
| 8 | g.86671045T>C | CA371450240 | CNGB3 | c.392A>G (p.Gln131Arg) n.153A>G c.-23A>G (n.-23A>G) | |
| 8 | g.86671045T>G | CA371450241 | CNGB3 | c.392A>C (p.Gln131Pro) n.153A>C c.-23A>C (n.-23A>C) | |
| 8 | g.86671046G>A | CA274001 | CNGB3 | c.391C>T (p.Gln131Ter) n.152C>T c.-24C>T (n.-24C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86671046G>C | CA371450242 | CNGB3 | c.391C>G (p.Gln131Glu) n.152C>G c.-24C>G (n.-24C>G) | |
| 8 | g.86671046G= | CA1799829927 | CNGB3 | c.391C= (p.Gln131=) n.152C= c.-24C= (n.-24C=) | |
| 8 | g.86671046G>T | CA371450243 | CNGB3 | c.391C>A (p.Gln131Lys) n.152C>A c.-24C>A (n.-24C>A) |