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 |
|---|---|---|---|---|---|
| 17 | g.73193144T>A | CA400879036 | COG1 | c.75T>A (p.His25Gln) c.73T>A c.52T>A | |
| 17 | g.73193144T>C | CA502026670 | COG1 | c.75T>C (p.His25=) c.73T>C c.52T>C | dbSNP gnomAD v4 COSMIC |
| 17 | g.73193144T>G | CA400879037 | COG1 | c.75T>G (p.His25Gln) c.73T>G c.52T>G | |
| 17 | g.73193144T= | CA2274430294 | COG1 | c.75T= (p.His25=) c.73T= c.52T= | |
| 17 | g.73193145G>A | CA400879038 | COG1 | c.76G>A (p.Gly26Arg) c.74G>A c.53G>A | |
| 17 | g.73193145G>C | CA400879039 | COG1 | c.76G>C (p.Gly26Arg) c.74G>C c.53G>C | |
| 17 | g.73193145G>T | CA400879040 | COG1 | c.76G>T (p.Gly26Ter) c.74G>T c.53G>T | gnomAD v4 |
| 17 | g.73193146G>A | CA400879041 | COG1 | c.77G>A (p.Gly26Glu) c.75G>A c.54G>A | |
| 17 | g.73193146G>C | CA400879042 | COG1 | c.77G>C (p.Gly26Ala) c.75G>C c.54G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193146G= | CA2274430295 | COG1 | c.77G= (p.Gly26=) c.75G= c.54G= | |
| 17 | g.73193146G>T | CA400879043 | COG1 | c.77G>T (p.Gly26Val) c.75G>T c.54G>T | |
| 17 | g.73193147A>C | CA502026671 | COG1 | c.78A>C (p.Gly26=) c.76A>C c.55A>C | |
| 17 | g.73193147A>G | CA502026672 | COG1 | c.78A>G (p.Gly26=) c.76A>G c.55A>G | |
| 17 | g.73193147A>T | CA502026673 | COG1 | c.78A>T (p.Gly26=) c.76A>T c.55A>T | |
| 17 | g.73193148G>A | CA400879045 | COG1 | c.79G>A (p.Ala27Thr) c.77G>A c.56G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193148G>C | CA400879044 | COG1 | c.79G>C (p.Ala27Pro) c.77G>C c.56G>C | |
| 17 | g.73193148G= | CA2274430296 | COG1 | c.79G= (p.Ala27=) c.77G= c.56G= | |
| 17 | g.73193148G>T | CA8739885 | COG1 | c.79G>T (p.Ala27Ser) c.77G>T c.56G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193149C>A | CA400879046 | COG1 | c.80C>A (p.Ala27Glu) c.78C>A c.57C>A | |
| 17 | g.73193149C= | CA2274430297 | COG1 | c.80C= (p.Ala27=) c.78C= c.57C= | |
| 17 | g.73193149C>G | CA400879047 | COG1 | c.80C>G (p.Ala27Gly) c.78C>G c.57C>G | |
| 17 | g.73193149C>T | CA400879048 | COG1 | c.80C>T (p.Ala27Val) c.78C>T c.57C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193150G>A | CA502026674 | COG1 | c.81G>A (p.Ala27=) c.79G>A c.58G>A | gnomAD v4 |
| 17 | g.73193150G>C | CA502026675 | COG1 | c.81G>C (p.Ala27=) c.79G>C c.58G>C | |
| 17 | g.73193150G>T | CA502026676 | COG1 | c.81G>T (p.Ala27=) c.79G>T c.58G>T | |
| 17 | g.73193151G>A | CA400879049 | COG1 | c.82G>A (p.Glu28Lys) c.80G>A c.59G>A | |
| 17 | g.73193151G>C | CA400879050 | COG1 | c.82G>C (p.Glu28Gln) c.80G>C c.59G>C | |
| 17 | g.73193151G= | CA2274430298 | COG1 | c.82G= (p.Glu28=) c.80G= c.59G= | |
| 17 | g.73193151G>T | CA400879051 | COG1 | c.82G>T (p.Glu28Ter) c.80G>T c.59G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193152A>C | CA400879052 | COG1 | c.83A>C (p.Glu28Ala) c.81A>C c.60A>C | |
| 17 | g.73193152A>G | CA400879053 | COG1 | c.83A>G (p.Glu28Gly) c.81A>G c.60A>G | |
| 17 | g.73193152A>T | CA400879054 | COG1 | c.83A>T (p.Glu28Val) c.81A>T c.60A>T | |
| 17 | g.73193153G>A | CA8739886 | COG1 | c.84G>A (p.Glu28=) c.82G>A c.61G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193153G>C | CA400879055 | COG1 | c.84G>C (p.Glu28Asp) c.82G>C c.61G>C | |
| 17 | g.73193153G= | CA2274430299 | COG1 | c.84G= (p.Glu28=) c.82G= c.61G= | |
| 17 | g.73193153G>T | CA400879056 | COG1 | c.84G>T (p.Glu28Asp) c.82G>T c.61G>T | |
| 17 | g.73193154G>A | CA293796925 | COG1 | c.85G>A (p.Glu29Lys) c.83G>A c.62G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193154G>C | CA400879058 | COG1 | c.85G>C (p.Glu29Gln) c.83G>C c.62G>C | |
| 17 | g.73193154G= | CA2274430300 | COG1 | c.85G= (p.Glu29=) c.83G= c.62G= | |
| 17 | g.73193154G>T | CA400879057 | COG1 | c.85G>T (p.Glu29Ter) c.83G>T c.62G>T | |
| 17 | g.73193155A>C | CA400879059 | COG1 | c.86A>C (p.Glu29Ala) c.84A>C c.63A>C | |
| 17 | g.73193155A>G | CA400879060 | COG1 | c.86A>G (p.Glu29Gly) c.84A>G c.63A>G | |
| 17 | g.73193155A>T | CA400879061 | COG1 | c.86A>T (p.Glu29Val) c.84A>T c.63A>T | |
| 17 | g.73193156G>A | CA502026677 | COG1 | c.87G>A (p.Glu29=) c.85G>A c.64G>A | |
| 17 | g.73193156G>C | CA8739887 | COG1 | c.87G>C (p.Glu29Asp) c.85G>C c.64G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193156G= | CA2274430301 | COG1 | c.87G= (p.Glu29=) c.85G= c.64G= | |
| 17 | g.73193156G>T | CA400879062 | COG1 | c.87G>T (p.Glu29Asp) c.85G>T c.64G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193157A= | CA2274430302 | COG1 | c.88A= (p.Ile30=) c.86A= c.65A= | |
| 17 | g.73193157A>C | CA400879063 | COG1 | c.88A>C (p.Ile30Leu) c.86A>C c.65A>C | |
| 17 | g.73193157A>G | CA400879064 | COG1 | c.88A>G (p.Ile30Val) c.86A>G c.65A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193157A>T | CA400879065 | COG1 | c.88A>T (p.Ile30Phe) c.86A>T c.65A>T | |
| 17 | g.73193158T>A | CA400879066 | COG1 | c.89T>A (p.Ile30Asn) c.87T>A c.66T>A | |
| 17 | g.73193158T>C | CA400879068 | COG1 | c.89T>C (p.Ile30Thr) c.87T>C c.66T>C | |
| 17 | g.73193158T>G | CA400879067 | COG1 | c.89T>G (p.Ile30Ser) c.87T>G c.66T>G | |
| 17 | g.73193159C>A | CA502026678 | COG1 | c.90C>A (p.Ile30=) c.88C>A c.67C>A | |
| 17 | g.73193159C= | CA2274430303 | COG1 | c.90C= (p.Ile30=) c.88C= c.67C= | |
| 17 | g.73193159C>G | CA400879069 | COG1 | c.90C>G (p.Ile30Met) c.88C>G c.67C>G | gnomAD v4 |
| 17 | g.73193159C>T | CA8739888 | COG1 | c.90C>T (p.Ile30=) c.88C>T c.67C>T | dbSNP ExAC gnomAD v2 |
| 17 | g.73193160C>A | CA400879070 | COG1 | c.91C>A (p.Arg31Ser) c.89C>A c.68C>A | |
| 17 | g.73193160C>G | CA400879071 | COG1 | c.91C>G (p.Arg31Gly) c.89C>G c.68C>G | |
| 17 | g.73193160C>T | CA400879072 | COG1 | c.91C>T (p.Arg31Cys) c.89C>T c.68C>T | |
| 17 | g.73193161G>A | CA400879073 | COG1 | c.92G>A (p.Arg31His) c.90G>A c.69G>A | |
| 17 | g.73193161G>C | CA400879075 | COG1 | c.92G>C (p.Arg31Pro) c.90G>C c.69G>C | |
| 17 | g.73193161G>T | CA400879074 | COG1 | c.92G>T (p.Arg31Leu) c.90G>T c.69G>T | |
| 17 | g.73193162C>A | CA502026679 | COG1 | c.93C>A (p.Arg31=) c.91C>A c.70C>A | |
| 17 | g.73193162C= | CA2274430304 | COG1 | c.93C= (p.Arg31=) c.91C= c.70C= | |
| 17 | g.73193162C>G | CA502026680 | COG1 | c.93C>G (p.Arg31=) c.91C>G c.70C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193162C>T | CA502026681 | COG1 | c.93C>T (p.Arg31=) c.91C>T c.70C>T | |
| 17 | g.73193163G>A | CA400879076 | COG1 | c.94G>A (p.Gly32Arg) c.92G>A c.71G>A | gnomAD v4 |
| 17 | g.73193163G>C | CA400879077 | COG1 | c.94G>C (p.Gly32Arg) c.92G>C c.71G>C | |
| 17 | g.73193163G= | CA2274430305 | COG1 | c.94G= (p.Gly32=) c.92G= c.71G= | |
| 17 | g.73193163G>T | CA400879078 | COG1 | c.94G>T (p.Gly32Trp) c.92G>T c.71G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193164G>A | CA400879079 | COG1 | c.95G>A (p.Gly32Glu) c.93G>A c.72G>A | gnomAD v4 |
| 17 | g.73193164G>C | CA400879080 | COG1 | c.95G>C (p.Gly32Ala) c.93G>C c.72G>C | |
| 17 | g.73193164G>T | CA400879081 | COG1 | c.95G>T (p.Gly32Val) c.93G>T c.72G>T | |
| 17 | g.73193165G>A | CA8739889 | COG1 | c.96G>A (p.Gly32=) c.94G>A c.73G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193165G>C | CA502026682 | COG1 | c.96G>C (p.Gly32=) c.94G>C c.73G>C | |
| 17 | g.73193165G= | CA2274430306 | COG1 | c.96G= (p.Gly32=) c.94G= c.73G= | |
| 17 | g.73193165G>T | CA502026683 | COG1 | c.96G>T (p.Gly32=) c.94G>T c.73G>T | |
| 17 | g.73193166C>A | CA400879082 | COG1 | c.97C>A (p.Leu33Met) c.95C>A c.74C>A | gnomAD v4 |
| 17 | g.73193166C= | CA2274430307 | COG1 | c.97C= (p.Leu33=) c.95C= c.74C= | |
| 17 | g.73193166C>G | CA400879083 | COG1 | c.97C>G (p.Leu33Val) c.95C>G c.74C>G | dbSNP |
| 17 | g.73193166C>T | CA502026684 | COG1 | c.97C>T (p.Leu33=) c.95C>T c.74C>T | gnomAD v4 |
| 17 | g.73193167T>A | CA400879084 | COG1 | c.98T>A (p.Leu33Gln) c.96T>A c.75T>A | gnomAD v4 |
| 17 | g.73193167T>C | CA400879085 | COG1 | c.98T>C (p.Leu33Pro) c.96T>C c.75T>C | |
| 17 | g.73193167T>G | CA400879086 | COG1 | c.98T>G (p.Leu33Arg) c.96T>G c.75T>G | |
| 17 | g.73193168G>A | CA502026685 | COG1 | c.99G>A (p.Leu33=) c.97G>A c.76G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193168G>C | CA502026686 | COG1 | c.99G>C (p.Leu33=) c.97G>C c.76G>C | |
| 17 | g.73193168G= | CA2274430308 | COG1 | c.99G= (p.Leu33=) c.97G= c.76G= | |
| 17 | g.73193168G>T | CA502026687 | COG1 | c.99G>T (p.Leu33=) c.97G>T c.76G>T | |
| 17 | g.73193169G>A | CA400879087 | COG1 | c.100G>A (p.Glu34Lys) c.98G>A c.77G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193169G>C | CA400879089 | COG1 | c.100G>C (p.Glu34Gln) c.98G>C c.77G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193169G= | CA2274430309 | COG1 | c.100G= (p.Glu34=) c.98G= c.77G= | |
| 17 | g.73193169G>T | CA400879088 | COG1 | c.100G>T (p.Glu34Ter) c.98G>T c.77G>T | |
| 17 | g.73193170A>C | CA400879090 | COG1 | c.101A>C (p.Glu34Ala) c.99A>C c.78A>C | |
| 17 | g.73193170A>G | CA400879091 | COG1 | c.101A>G (p.Glu34Gly) c.99A>G c.78A>G | |
| 17 | g.73193170A>T | CA400879092 | COG1 | c.101A>T (p.Glu34Val) c.99A>T c.78A>T | |
| 17 | g.73193171G>A | CA502026688 | COG1 | c.102G>A (p.Glu34=) c.100G>A c.79G>A | dbSNP gnomAD v4 |
| 17 | g.73193171G>C | CA400879093 | COG1 | c.102G>C (p.Glu34Asp) c.100G>C c.79G>C | gnomAD v4 |
| 17 | g.73193171G= | CA2274430310 | COG1 | c.102G= (p.Glu34=) c.100G= c.79G= | |
| 17 | g.73193171G>T | CA400879094 | COG1 | c.102G>T (p.Glu34Asp) c.100G>T c.79G>T | |
| 17 | g.73193172C>A | CA400879097 | COG1 | c.103C>A (p.Arg35Ser) c.101C>A c.80C>A | dbSNP gnomAD v4 |
| 17 | g.73193172C= | CA2274430311 | COG1 | c.103C= (p.Arg35=) c.101C= c.80C= | |
| 17 | g.73193172C>G | CA400879096 | COG1 | c.103C>G (p.Arg35Gly) c.101C>G c.80C>G | |
| 17 | g.73193172C>T | CA400879095 | COG1 | c.103C>T (p.Arg35Cys) c.101C>T c.80C>T | |
| 17 | g.73193173G>A | CA400879098 | COG1 | c.104G>A (p.Arg35His) c.102G>A c.81G>A | gnomAD v4 |
| 17 | g.73193173G>C | CA400879099 | COG1 | c.104G>C (p.Arg35Pro) c.102G>C c.81G>C | |
| 17 | g.73193173G= | CA2274430312 | COG1 | c.104G= (p.Arg35=) c.102G= c.81G= | |
| 17 | g.73193173G>T | CA400879100 | COG1 | c.104G>T (p.Arg35Leu) c.102G>T c.81G>T | dbSNP gnomAD v4 |
| 17 | g.73193174C>A | CA502026689 | COG1 | c.105C>A (p.Arg35=) c.103C>A c.82C>A | |
| 17 | g.73193174C= | CA2274430313 | COG1 | c.105C= (p.Arg35=) c.103C= c.82C= | |
| 17 | g.73193174C>G | CA502026690 | COG1 | c.105C>G (p.Arg35=) c.103C>G c.82C>G | ClinVar dbSNP |
| 17 | g.73193174C>T | CA502026691 | COG1 | c.105C>T (p.Arg35=) c.103C>T c.82C>T | gnomAD v4 |
| 17 | g.73193175C>A | CA400879101 | COG1 | c.106C>A (p.Gln36Lys) c.104C>A c.83C>A | |
| 17 | g.73193175C>G | CA400879102 | COG1 | c.106C>G (p.Gln36Glu) c.104C>G c.83C>G | |
| 17 | g.73193175C>T | CA400879103 | COG1 | c.106C>T (p.Gln36Ter) c.104C>T c.83C>T | gnomAD v4 |
| 17 | g.73193176A>C | CA400879104 | COG1 | c.107A>C (p.Gln36Pro) c.105A>C c.84A>C | |
| 17 | g.73193176A>G | CA400879106 | COG1 | c.107A>G (p.Gln36Arg) c.105A>G c.84A>G | dbSNP gnomAD v4 |
| 17 | g.73193176A>T | CA400879105 | COG1 | c.107A>T (p.Gln36Leu) c.105A>T c.84A>T | |
| 17 | g.73193177G>A | CA502026692 | COG1 | c.108G>A (p.Gln36=) c.106G>A c.85G>A | dbSNP gnomAD v4 |
| 17 | g.73193177G>C | CA8739890 | COG1 | c.108G>C (p.Gln36His) c.106G>C c.85G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193177G= | CA2274430314 | COG1 | c.108G= (p.Gln36=) c.106G= c.85G= | |
| 17 | g.73193177G>T | CA400879107 | COG1 | c.108G>T (p.Gln36His) c.106G>T c.85G>T | |
| 17 | g.73193178G>A | CA400879108 | COG1 | c.109G>A (p.Val37Ile) c.107G>A c.86G>A | dbSNP |
| 17 | g.73193178G>C | CA400879109 | COG1 | c.109G>C (p.Val37Leu) c.107G>C c.86G>C | |
| 17 | g.73193178G= | CA2274430315 | COG1 | c.109G= (p.Val37=) c.107G= c.86G= | |
| 17 | g.73193178G>T | CA400879110 | COG1 | c.109G>T (p.Val37Phe) c.107G>T c.86G>T | |
| 17 | g.73193179T>A | CA400879111 | COG1 | c.110T>A (p.Val37Asp) c.108T>A c.87T>A | |
| 17 | g.73193179T>C | CA400879112 | COG1 | c.110T>C (p.Val37Ala) c.108T>C c.87T>C | |
| 17 | g.73193179T>G | CA400879113 | COG1 | c.110T>G (p.Val37Gly) c.108T>G c.87T>G | |
| 17 | g.73193180T>A | CA502026693 | COG1 | c.111T>A (p.Val37=) c.109T>A c.88T>A | |
| 17 | g.73193180T>C | CA502026694 | COG1 | c.111T>C (p.Val37=) c.109T>C c.88T>C | |
| 17 | g.73193180T>G | CA502026695 | COG1 | c.111T>G (p.Val37=) c.109T>G c.88T>G | |
| 17 | g.73193181C>A | CA502026696 | COG1 | c.112C>A (p.Arg38=) c.110C>A c.89C>A | |
| 17 | g.73193181C>G | CA400879114 | COG1 | c.112C>G (p.Arg38Gly) c.110C>G c.89C>G | |
| 17 | g.73193181C>T | CA400879115 | COG1 | c.112C>T (p.Arg38Trp) c.110C>T c.89C>T | gnomAD v4 COSMIC |
| 17 | g.73193182G>A | CA293796952 | COG1 | c.113G>A (p.Arg38Gln) c.111G>A c.90G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193182G>C | CA400879116 | COG1 | c.113G>C (p.Arg38Pro) c.111G>C c.90G>C | |
| 17 | g.73193182G= | CA2274430316 | COG1 | c.113G= (p.Arg38=) c.111G= c.90G= | |
| 17 | g.73193182G>T | CA8739891 | COG1 | c.113G>T (p.Arg38Leu) c.111G>T c.90G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193184del | CA2639622150 | COG1 | c.115del (p.Ala39ProfsTer21) c.113del c.92del | gnomAD v4 |
| 17 | g.73193183G>A | CA502026697 | COG1 | c.114G>A (p.Arg38=) c.112G>A c.91G>A | dbSNP gnomAD v2 |
| 17 | g.73193183G>C | CA502026698 | COG1 | c.114G>C (p.Arg38=) c.112G>C c.91G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193183G= | CA2274430317 | COG1 | c.114G= (p.Arg38=) c.112G= c.91G= | |
| 17 | g.73193183G>T | CA502026699 | COG1 | c.114G>T (p.Arg38=) c.112G>T c.91G>T | |
| 17 | g.73193184G>A | CA400879117 | COG1 | c.115G>A (p.Ala39Thr) c.113G>A c.92G>A | gnomAD v4 |
| 17 | g.73193184G>C | CA400879118 | COG1 | c.115G>C (p.Ala39Pro) c.113G>C c.92G>C | |
| 17 | g.73193184G>T | CA400879119 | COG1 | c.115G>T (p.Ala39Ser) c.113G>T c.92G>T | |
| 17 | g.73193185C>A | CA400879120 | COG1 | c.116C>A (p.Ala39Asp) c.114C>A c.93C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193185C= | CA2274430318 | COG1 | c.116C= (p.Ala39=) c.114C= c.93C= | |
| 17 | g.73193185C>G | CA400879121 | COG1 | c.116C>G (p.Ala39Gly) c.114C>G c.93C>G | |
| 17 | g.73193185C>T | CA400879122 | COG1 | c.116C>T (p.Ala39Val) c.114C>T c.93C>T | gnomAD v4 |
| 17 | g.73193186C>A | CA502026700 | COG1 | c.117C>A (p.Ala39=) c.115C>A c.94C>A | gnomAD v4 |
| 17 | g.73193186C= | CA2274430319 | COG1 | c.117C= (p.Ala39=) c.115C= c.94C= | |
| 17 | g.73193186C>G | CA502026701 | COG1 | c.117C>G (p.Ala39=) c.115C>G c.94C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193186C>T | CA502026702 | COG1 | c.117C>T (p.Ala39=) c.115C>T c.94C>T | ClinVar gnomAD v4 |
| 17 | g.73193187G>A | CA400879125 | COG1 | c.118G>A (p.Glu40Lys) c.116G>A c.95G>A | |
| 17 | g.73193187G>C | CA400879123 | COG1 | c.118G>C (p.Glu40Gln) c.116G>C c.95G>C | |
| 17 | g.73193187G>T | CA400879124 | COG1 | c.118G>T (p.Glu40Ter) c.116G>T c.95G>T | |
| 17 | g.73193188A>C | CA400879126 | COG1 | c.119A>C (p.Glu40Ala) c.117A>C c.96A>C | |
| 17 | g.73193188A>G | CA400879127 | COG1 | c.119A>G (p.Glu40Gly) c.117A>G c.96A>G | |
| 17 | g.73193188A>T | CA400879128 | COG1 | c.119A>T (p.Glu40Val) c.117A>T c.96A>T | |
| 17 | g.73193189G>A | CA502026703 | COG1 | c.120G>A (p.Glu40=) c.118G>A c.97G>A | |
| 17 | g.73193189G>C | CA400879129 | COG1 | c.120G>C (p.Glu40Asp) c.118G>C c.97G>C | |
| 17 | g.73193189G= | CA2274430320 | COG1 | c.120G= (p.Glu40=) c.118G= c.97G= | |
| 17 | g.73193189G>T | CA400879130 | COG1 | c.120G>T (p.Glu40Asp) c.118G>T c.97G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193190A>C | CA400879133 | COG1 | c.121A>C (p.Ile41Leu) c.119A>C c.98A>C | |
| 17 | g.73193190A>G | CA400879131 | COG1 | c.121A>G (p.Ile41Val) c.119A>G c.98A>G | |
| 17 | g.73193190A>T | CA400879132 | COG1 | c.121A>T (p.Ile41Phe) c.119A>T c.98A>T | |
| 17 | g.73193191T>A | CA400879134 | COG1 | c.122T>A (p.Ile41Asn) c.120T>A c.99T>A | |
| 17 | g.73193191T>C | CA400879135 | COG1 | c.122T>C (p.Ile41Thr) c.120T>C c.99T>C | |
| 17 | g.73193191T>G | CA400879136 | COG1 | c.122T>G (p.Ile41Ser) c.120T>G c.99T>G | |
| 17 | g.73193192C>A | CA502026705 | COG1 | c.123C>A (p.Ile41=) c.121C>A c.100C>A | |
| 17 | g.73193192C>G | CA400879137 | COG1 | c.123C>G (p.Ile41Met) c.121C>G c.100C>G | gnomAD v4 |
| 17 | g.73193192C>T | CA502026704 | COG1 | c.123C>T (p.Ile41=) c.121C>T c.100C>T | gnomAD v4 |
| 17 | g.73193193G>A | CA400879138 | COG1 | c.124G>A (p.Glu42Lys) c.122G>A c.101G>A | gnomAD v4 |
| 17 | g.73193193G>C | CA400879139 | COG1 | c.124G>C (p.Glu42Gln) c.122G>C c.101G>C | |
| 17 | g.73193193G>T | CA400879140 | COG1 | c.124G>T (p.Glu42Ter) c.122G>T c.101G>T | gnomAD v4 |
| 17 | g.73193194A= | CA2274430321 | COG1 | c.125A= (p.Glu42=) c.123A= c.102A= | |
| 17 | g.73193194A>C | CA293796959 | COG1 | c.125A>C (p.Glu42Ala) c.123A>C c.102A>C | ClinVar dbSNP |
| 17 | g.73193194A>G | CA400879141 | COG1 | c.125A>G (p.Glu42Gly) c.123A>G c.102A>G | |
| 17 | g.73193194A>T | CA400879142 | COG1 | c.125A>T (p.Glu42Val) c.123A>T c.102A>T | |
| 17 | g.73193195G>A | CA293796968 | COG1 | c.126G>A (p.Glu42=) c.124G>A c.103G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193195G>C | CA400879143 | COG1 | c.126G>C (p.Glu42Asp) c.124G>C c.103G>C | gnomAD v4 |
| 17 | g.73193195G= | CA2274430322 | COG1 | c.126G= (p.Glu42=) c.124G= c.103G= | |
| 17 | g.73193195G>T | CA400879144 | COG1 | c.126G>T (p.Glu42Asp) c.124G>T c.103G>T | gnomAD v4 |
| 17 | g.73193196C>A | CA400879145 | COG1 | c.127C>A (p.His43Asn) c.125C>A c.104C>A | gnomAD v4 |
| 17 | g.73193196C= | CA2274430323 | COG1 | c.127C= (p.His43=) c.125C= c.104C= | |
| 17 | g.73193196C>G | CA400879147 | COG1 | c.127C>G (p.His43Asp) c.125C>G c.104C>G | |
| 17 | g.73193196C>T | CA400879146 | COG1 | c.127C>T (p.His43Tyr) c.125C>T c.104C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193197A>C | CA400879148 | COG1 | c.128A>C (p.His43Pro) c.126A>C c.105A>C | |
| 17 | g.73193197A>G | CA400879149 | COG1 | c.128A>G (p.His43Arg) c.126A>G c.105A>G | gnomAD v4 |
| 17 | g.73193197A>T | CA400879150 | COG1 | c.128A>T (p.His43Leu) c.126A>T c.105A>T | |
| 17 | g.73193198C>A | CA400879151 | COG1 | c.129C>A (p.His43Gln) c.127C>A c.106C>A | |
| 17 | g.73193198C>G | CA400879152 | COG1 | c.129C>G (p.His43Gln) c.127C>G c.106C>G | gnomAD v4 |
| 17 | g.73193198C>T | CA502026706 | COG1 | c.129C>T (p.His43=) c.127C>T c.106C>T | |
| 17 | g.73193199A>C | CA400879153 | COG1 | c.130A>C (p.Lys44Gln) c.128A>C c.107A>C | |
| 17 | g.73193199A>G | CA400879154 | COG1 | c.130A>G (p.Lys44Glu) c.128A>G c.107A>G | gnomAD v4 |
| 17 | g.73193199A>T | CA400879155 | COG1 | c.130A>T (p.Lys44Ter) c.128A>T c.107A>T | |
| 17 | g.73193200A>C | CA400879156 | COG1 | c.131A>C (p.Lys44Thr) c.129A>C c.108A>C | |
| 17 | g.73193200A>G | CA400879157 | COG1 | c.131A>G (p.Lys44Arg) c.129A>G c.108A>G | |
| 17 | g.73193200A>T | CA400879158 | COG1 | c.131A>T (p.Lys44Met) c.129A>T c.108A>T | |
| 17 | g.73193201G>A | CA502026707 | COG1 | c.132G>A (p.Lys44=) c.130G>A c.109G>A | |
| 17 | g.73193201G>C | CA400879159 | COG1 | c.132G>C (p.Lys44Asn) c.130G>C c.109G>C | |
| 17 | g.73193201G>T | CA400879160 | COG1 | c.132G>T (p.Lys44Asn) c.130G>T c.109G>T | |
| 17 | g.73193202A= | CA2274430324 | COG1 | c.133A= (p.Lys45=) c.131A= c.110A= | |
| 17 | g.73193202A>C | CA400879165 | COG1 | c.133A>C (p.Lys45Gln) c.131A>C c.110A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193202A>G | CA400879175 | COG1 | c.133A>G (p.Lys45Glu) c.131A>G c.110A>G | gnomAD v4 |
| 17 | g.73193202A>T | CA400879170 | COG1 | c.133A>T (p.Lys45Ter) c.131A>T c.110A>T | |
| 17 | g.73193203A= | CA2274430325 | COG1 | c.134A= (p.Lys45=) c.132A= c.111A= | |
| 17 | g.73193203A>C | CA400879178 | COG1 | c.134A>C (p.Lys45Thr) c.132A>C c.111A>C | |
| 17 | g.73193203A>G | CA293796971 | COG1 | c.134A>G (p.Lys45Arg) c.132A>G c.111A>G | dbSNP |
| 17 | g.73193203A>T | CA400879199 | COG1 | c.134A>T (p.Lys45Met) c.132A>T c.111A>T | |
| 17 | g.73193204G>A | CA502026708 | COG1 | c.135G>A (p.Lys45=) c.133G>A c.112G>A | gnomAD v4 |
| 17 | g.73193204G>C | CA400879204 | COG1 | c.135G>C (p.Lys45Asn) c.133G>C c.112G>C | |
| 17 | g.73193204G>T | CA400879206 | COG1 | c.135G>T (p.Lys45Asn) c.133G>T c.112G>T | |
| 17 | g.73193205G>A | CA400879209 | COG1 | c.136G>A (p.Glu46Lys) c.134G>A c.113G>A | |
| 17 | g.73193205G>C | CA400879212 | COG1 | c.136G>C (p.Glu46Gln) c.134G>C c.113G>C | |
| 17 | g.73193205G>T | CA400879215 | COG1 | c.136G>T (p.Glu46Ter) c.134G>T c.113G>T | |
| 17 | g.73193206A>C | CA400879219 | COG1 | c.137A>C (p.Glu46Ala) c.135A>C c.114A>C | |
| 17 | g.73193206A>G | CA400879223 | COG1 | c.137A>G (p.Glu46Gly) c.135A>G c.114A>G | |
| 17 | g.73193206A>T | CA400879225 | COG1 | c.137A>T (p.Glu46Val) c.135A>T c.114A>T | gnomAD v4 |
| 17 | g.73193207G>A | CA502026709 | COG1 | c.138G>A (p.Glu46=) c.136G>A c.115G>A | |
| 17 | g.73193207G>C | CA400879231 | COG1 | c.138G>C (p.Glu46Asp) c.136G>C c.115G>C | |
| 17 | g.73193207G>T | CA400879227 | COG1 | c.138G>T (p.Glu46Asp) c.136G>T c.115G>T | |
| 17 | g.73193208G>A | CA400879234 | COG1 | c.139G>A (p.Glu47Lys) c.137G>A c.116G>A | dbSNP gnomAD v4 |
| 17 | g.73193208G>C | CA400879238 | COG1 | c.139G>C (p.Glu47Gln) c.137G>C c.116G>C | |
| 17 | g.73193208G= | CA2274430326 | COG1 | c.139G= (p.Glu47=) c.137G= c.116G= | |
| 17 | g.73193208G>T | CA400879239 | COG1 | c.139G>T (p.Glu47Ter) c.137G>T c.116G>T | |
| 17 | g.73193209A>C | CA400879247 | COG1 | c.140A>C (p.Glu47Ala) c.138A>C c.117A>C | |
| 17 | g.73193209A>G | CA400879250 | COG1 | c.140A>G (p.Glu47Gly) c.138A>G c.117A>G | |
| 17 | g.73193209A>T | CA400879256 | COG1 | c.140A>T (p.Glu47Val) c.138A>T c.117A>T | |
| 17 | g.73193210G>A | CA8739892 | COG1 | c.141G>A (p.Glu47=) c.139G>A c.118G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193210G>C | CA400879261 | COG1 | c.141G>C (p.Glu47Asp) c.139G>C c.118G>C | |
| 17 | g.73193210G= | CA2274430327 | COG1 | c.141G= (p.Glu47=) c.139G= c.118G= | |
| 17 | g.73193210G>T | CA400879265 | COG1 | c.141G>T (p.Glu47Asp) c.139G>T c.118G>T | gnomAD v4 |
| 17 | g.73193211C>A | CA8739893 | COG1 | c.142C>A (p.Leu48Met) c.140C>A c.119C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193211C= | CA2274430328 | COG1 | c.142C= (p.Leu48=) c.140C= c.119C= | |
| 17 | g.73193211C>G | CA400879271 | COG1 | c.142C>G (p.Leu48Val) c.140C>G c.119C>G | |
| 17 | g.73193211C>T | CA502026710 | COG1 | c.142C>T (p.Leu48=) c.140C>T c.119C>T | |
| 17 | g.73193212T>A | CA400879275 | COG1 | c.143T>A (p.Leu48Gln) c.141T>A c.120T>A | |
| 17 | g.73193212T>C | CA400879279 | COG1 | c.143T>C (p.Leu48Pro) c.141T>C c.120T>C | |
| 17 | g.73193212T>G | CA400879282 | COG1 | c.143T>G (p.Leu48Arg) c.141T>G c.120T>G | |
| 17 | g.73193213G>A | CA502026711 | COG1 | c.144G>A (p.Leu48=) c.142G>A c.121G>A | |
| 17 | g.73193213G>C | CA502026713 | COG1 | c.144G>C (p.Leu48=) c.142G>C c.121G>C | |
| 17 | g.73193213G>T | CA502026712 | COG1 | c.144G>T (p.Leu48=) c.142G>T c.121G>T | |
| 17 | g.73193214C>A | CA502026714 | COG1 | c.145C>A (p.Arg49=) c.143C>A c.122C>A | gnomAD v4 |
| 17 | g.73193214C= | CA2274430329 | COG1 | c.145C= (p.Arg49=) c.143C= c.122C= | |
| 17 | g.73193214C>G | CA400879291 | COG1 | c.145C>G (p.Arg49Gly) c.143C>G c.122C>G | |
| 17 | g.73193214C>T | CA400879288 | COG1 | c.145C>T (p.Arg49Trp) c.143C>T c.122C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193215G>A | CA400879295 | COG1 | c.146G>A (p.Arg49Gln) c.144G>A c.123G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193215G>C | CA400879302 | COG1 | c.146G>C (p.Arg49Pro) c.144G>C c.123G>C | |
| 17 | g.73193215G= | CA2274430330 | COG1 | c.146G= (p.Arg49=) c.144G= c.123G= | |
| 17 | g.73193215G>T | CA400879304 | COG1 | c.146G>T (p.Arg49Leu) c.144G>T c.123G>T | |
| 17 | g.73193216G>A | CA502026715 | COG1 | c.147G>A (p.Arg49=) c.145G>A c.124G>A | gnomAD v4 COSMIC |
| 17 | g.73193216G>C | CA502026716 | COG1 | c.147G>C (p.Arg49=) c.145G>C c.124G>C | |
| 17 | g.73193216G>T | CA502026717 | COG1 | c.147G>T (p.Arg49=) c.145G>T c.124G>T | gnomAD v4 |
| 17 | g.73193217C>A | CA400879315 | COG1 | c.148C>A (p.Gln50Lys) c.146C>A c.125C>A | gnomAD v4 |
| 17 | g.73193217C= | CA2274430331 | COG1 | c.148C= (p.Gln50=) c.146C= c.125C= | |
| 17 | g.73193217C>G | CA400879316 | COG1 | c.148C>G (p.Gln50Glu) c.146C>G c.125C>G | |
| 17 | g.73193217C>T | CA8739894 | COG1 | c.148C>T (p.Gln50Ter) c.146C>T c.125C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193218A= | CA2274430332 | COG1 | c.149A= (p.Gln50=) c.147A= c.126A= | |
| 17 | g.73193218A>C | CA400879325 | COG1 | c.149A>C (p.Gln50Pro) c.147A>C c.126A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193218A>G | CA400879319 | COG1 | c.149A>G (p.Gln50Arg) c.147A>G c.126A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193218A>T | CA400879321 | COG1 | c.149A>T (p.Gln50Leu) c.147A>T c.126A>T | |
| 17 | g.73193219G>A | CA502026718 | COG1 | c.150G>A (p.Gln50=) c.148G>A c.127G>A | |
| 17 | g.73193219G>C | CA400879328 | COG1 | c.150G>C (p.Gln50His) c.148G>C c.127G>C | gnomAD v4 |
| 17 | g.73193219G>T | CA400879334 | COG1 | c.150G>T (p.Gln50His) c.148G>T c.127G>T | gnomAD v4 |
| 17 | g.73193220A>C | CA400879338 | COG1 | c.151A>C (p.Met51Leu) c.149A>C c.128A>C | |
| 17 | g.73193220A>G | CA400879339 | COG1 | c.151A>G (p.Met51Val) c.149A>G c.128A>G | |
| 17 | g.73193220A>T | CA400879340 | COG1 | c.151A>T (p.Met51Leu) c.149A>T c.128A>T | gnomAD v4 |
| 17 | g.73193221T>A | CA400879347 | COG1 | c.152T>A (p.Met51Lys) c.150T>A c.129T>A | gnomAD v4 |
| 17 | g.73193221T>C | CA400879345 | COG1 | c.152T>C (p.Met51Thr) c.150T>C c.129T>C | dbSNP gnomAD v4 |
| 17 | g.73193221T>G | CA400879346 | COG1 | c.152T>G (p.Met51Arg) c.150T>G c.129T>G | |
| 17 | g.73193221T= | CA2274430333 | COG1 | c.152T= (p.Met51=) c.150T= c.129T= | |
| 17 | g.73193222G>A | CA16603203 | COG1 | c.153G>A (p.Met51Ile) c.151G>A c.130G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193222G>C | CA400879350 | COG1 | c.153G>C (p.Met51Ile) c.151G>C c.130G>C | |
| 17 | g.73193222G= | CA2274430334 | COG1 | c.153G= (p.Met51=) c.151G= c.130G= | |
| 17 | g.73193222G>T | CA400879354 | COG1 | c.153G>T (p.Met51Ile) c.151G>T c.130G>T | gnomAD v4 COSMIC |
| 17 | g.73193223G>A | CA400879358 | COG1 | c.154G>A (p.Val52Met) c.152G>A c.131G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193223G>C | CA400879359 | COG1 | c.154G>C (p.Val52Leu) c.152G>C c.131G>C | |
| 17 | g.73193223G= | CA2274430335 | COG1 | c.154G= (p.Val52=) c.152G= c.131G= | |
| 17 | g.73193223G>T | CA400879362 | COG1 | c.154G>T (p.Val52Leu) c.152G>T c.131G>T | |
| 17 | g.73193224T>A | CA400879366 | COG1 | c.155T>A (p.Val52Glu) c.153T>A c.132T>A | |
| 17 | g.73193224T>C | CA400879364 | COG1 | c.155T>C (p.Val52Ala) c.153T>C c.132T>C | |
| 17 | g.73193224T>G | CA400879363 | COG1 | c.155T>G (p.Val52Gly) c.153T>G c.132T>G | |
| 17 | g.73193224T= | CA2274430336 | COG1 | c.155T= (p.Val52=) c.153T= c.132T= | |
| 17 | g.73193225G>A | CA502026719 | COG1 | c.156G>A (p.Val52=) c.154G>A c.133G>A | |
| 17 | g.73193225G>C | CA502026720 | COG1 | c.156G>C (p.Val52=) c.154G>C c.133G>C | |
| 17 | g.73193225G>T | CA502026721 | COG1 | c.156G>T (p.Val52=) c.154G>T c.133G>T | gnomAD v4 |
| 17 | g.73193226_73193241dup | CA774874972 | COG1 | c.157_172dup (p.Asp58GlyfsTer?) c.155_170dup c.134_149dup | dbSNP |
| 17 | g.73193226G>A | CA400879367 | COG1 | c.157G>A (p.Gly53Ser) c.155G>A c.134G>A | |
| 17 | g.73193226G>C | CA400879368 | COG1 | c.157G>C (p.Gly53Arg) c.155G>C c.134G>C | |
| 17 | g.73193226G>T | CA400879369 | COG1 | c.157G>T (p.Gly53Cys) c.155G>T c.134G>T | |
| 17 | g.73193227G>A | CA400879373 | COG1 | c.158G>A (p.Gly53Asp) c.156G>A c.135G>A | gnomAD v4 |
| 17 | g.73193227G>C | CA400879375 | COG1 | c.158G>C (p.Gly53Ala) c.156G>C c.135G>C | |
| 17 | g.73193227G>T | CA400879380 | COG1 | c.158G>T (p.Gly53Val) c.156G>T c.135G>T | |
| 17 | g.73193228C>A | CA502026722 | COG1 | c.159C>A (p.Gly53=) c.157C>A c.136C>A | |
| 17 | g.73193228C>G | CA502026723 | COG1 | c.159C>G (p.Gly53=) c.157C>G c.136C>G | |
| 17 | g.73193228C>T | CA502026724 | COG1 | c.159C>T (p.Gly53=) c.157C>T c.136C>T | gnomAD v4 |
| 17 | g.73193229G>A | CA400879383 | COG1 | c.160G>A (p.Glu54Lys) c.158G>A c.137G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193229G>C | CA400879385 | COG1 | c.160G>C (p.Glu54Gln) c.158G>C c.137G>C | |
| 17 | g.73193229G= | CA2274430337 | COG1 | c.160G= (p.Glu54=) c.158G= c.137G= | |
| 17 | g.73193229G>T | CA400879384 | COG1 | c.160G>T (p.Glu54Ter) c.158G>T c.137G>T | |
| 17 | g.73193230A>C | CA400879388 | COG1 | c.161A>C (p.Glu54Ala) c.159A>C c.138A>C | |
| 17 | g.73193230A>G | CA400879391 | COG1 | c.161A>G (p.Glu54Gly) c.159A>G c.138A>G | |
| 17 | g.73193230A>T | CA400879394 | COG1 | c.161A>T (p.Glu54Val) c.159A>T c.138A>T | |
| 17 | g.73193231A>C | CA400879398 | COG1 | c.162A>C (p.Glu54Asp) c.160A>C c.139A>C | |
| 17 | g.73193231A>G | CA502026725 | COG1 | c.162A>G (p.Glu54=) c.160A>G c.139A>G | |
| 17 | g.73193231A>T | CA400879399 | COG1 | c.162A>T (p.Glu54Asp) c.160A>T c.139A>T | |
| 17 | g.73193232C>A | CA502026726 | COG1 | c.163C>A (p.Arg55=) c.161C>A c.140C>A | |
| 17 | g.73193232C= | CA2274430338 | COG1 | c.163C= (p.Arg55=) c.161C= c.140C= | |
| 17 | g.73193232C>G | CA400879402 | COG1 | c.163C>G (p.Arg55Gly) c.161C>G c.140C>G | |
| 17 | g.73193232C>T | CA8739895 | COG1 | c.163C>T (p.Arg55Trp) c.161C>T c.140C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193233G>A | CA400879405 | COG1 | c.164G>A (p.Arg55Gln) c.162G>A c.141G>A | |
| 17 | g.73193233G>C | CA8739896 | COG1 | c.164G>C (p.Arg55Pro) c.162G>C c.141G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193233G= | CA2274430339 | COG1 | c.164G= (p.Arg55=) c.162G= c.141G= | |
| 17 | g.73193233G>T | CA400879417 | COG1 | c.164G>T (p.Arg55Leu) c.162G>T c.141G>T | gnomAD v4 |
| 17 | g.73193234G>A | CA8739897 | COG1 | c.165G>A (p.Arg55=) c.163G>A c.142G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193234G>C | CA502026728 | COG1 | c.165G>C (p.Arg55=) c.163G>C c.142G>C | |
| 17 | g.73193234G= | CA2274430340 | COG1 | c.165G= (p.Arg55=) c.163G= c.142G= | |
| 17 | g.73193234G>T | CA502026727 | COG1 | c.165G>T (p.Arg55=) c.163G>T c.142G>T | |
| 17 | g.73193235T>A | CA400879428 | COG1 | c.166T>A (p.Tyr56Asn) c.164T>A c.143T>A | |
| 17 | g.73193235T>C | CA400879422 | COG1 | c.166T>C (p.Tyr56His) c.164T>C c.143T>C | |
| 17 | g.73193235T>G | CA400879424 | COG1 | c.166T>G (p.Tyr56Asp) c.164T>G c.143T>G | |
| 17 | g.73193236A>C | CA400879432 | COG1 | c.167A>C (p.Tyr56Ser) c.165A>C c.144A>C | |
| 17 | g.73193236A>G | CA400879440 | COG1 | c.167A>G (p.Tyr56Cys) c.165A>G c.144A>G | |
| 17 | g.73193236A>T | CA400879437 | COG1 | c.167A>T (p.Tyr56Phe) c.165A>T c.144A>T | |
| 17 | g.73193237C>A | CA400879444 | COG1 | c.168C>A (p.Tyr56Ter) c.166C>A c.145C>A | |
| 17 | g.73193237C= | CA2274430341 | COG1 | c.168C= (p.Tyr56=) c.166C= c.145C= | |
| 17 | g.73193237C>G | CA293797010 | COG1 | c.168C>G (p.Tyr56Ter) c.166C>G c.145C>G | dbSNP |
| 17 | g.73193237C>T | CA502026729 | COG1 | c.168C>T (p.Tyr56=) c.166C>T c.145C>T | gnomAD v4 |
| 17 | g.73193238C>A | CA400879449 | COG1 | c.169C>A (p.Arg57Ser) c.167C>A c.146C>A | gnomAD v4 |
| 17 | g.73193238C= | CA2274430342 | COG1 | c.169C= (p.Arg57=) c.167C= c.146C= | |
| 17 | g.73193238C>G | CA400879452 | COG1 | c.169C>G (p.Arg57Gly) c.167C>G c.146C>G | |
| 17 | g.73193238C>T | CA8739898 | COG1 | c.169C>T (p.Arg57Cys) c.167C>T c.146C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193239G>A | CA400879458 | COG1 | c.170G>A (p.Arg57His) c.168G>A c.147G>A | gnomAD v4 |
| 17 | g.73193239G>C | CA400879471 | COG1 | c.170G>C (p.Arg57Pro) c.168G>C c.147G>C | |
| 17 | g.73193239G>T | CA400879474 | COG1 | c.170G>T (p.Arg57Leu) c.168G>T c.147G>T | |
| 17 | g.73193240C>A | CA502026730 | COG1 | c.171C>A (p.Arg57=) c.169C>A c.148C>A | gnomAD v4 |
| 17 | g.73193240C>G | CA502026732 | COG1 | c.171C>G (p.Arg57=) c.169C>G c.148C>G | gnomAD v4 |
| 17 | g.73193240C>T | CA502026731 | COG1 | c.171C>T (p.Arg57=) c.169C>T c.148C>T | gnomAD v4 |
| 17 | g.73193241G>A | CA400879480 | COG1 | c.172G>A (p.Asp58Asn) c.170G>A c.149G>A | |
| 17 | g.73193241G>C | CA400879483 | COG1 | c.172G>C (p.Asp58His) c.170G>C c.149G>C | gnomAD v4 |
| 17 | g.73193241G= | CA2274430343 | COG1 | c.172G= (p.Asp58=) c.170G= c.149G= | |
| 17 | g.73193241G>T | CA400879484 | COG1 | c.172G>T (p.Asp58Tyr) c.170G>T c.149G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.73193242A>C | CA400879490 | COG1 | c.173A>C (p.Asp58Ala) c.171A>C c.150A>C | |
| 17 | g.73193242A>G | CA400879495 | COG1 | c.173A>G (p.Asp58Gly) c.171A>G c.150A>G | |
| 17 | g.73193242A>T | CA400879499 | COG1 | c.173A>T (p.Asp58Val) c.171A>T c.150A>T | |
| 17 | g.73193243C>A | CA400879506 | COG1 | c.174C>A (p.Asp58Glu) c.172C>A c.151C>A | |
| 17 | g.73193243C>G | CA400879509 | COG1 | c.174C>G (p.Asp58Glu) c.172C>G c.151C>G | gnomAD v4 |
| 17 | g.73193243C>T | CA502026733 | COG1 | c.174C>T (p.Asp58=) c.172C>T c.151C>T | |
| 17 | g.73193244C>A | CA400879515 | COG1 | c.175C>A (p.Leu59Met) c.173C>A c.152C>A | |
| 17 | g.73193244C>G | CA400879520 | COG1 | c.175C>G (p.Leu59Val) c.173C>G c.152C>G | |
| 17 | g.73193244C>T | CA502026734 | COG1 | c.175C>T (p.Leu59=) c.173C>T c.152C>T |