Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47879011G>ACA384514891VDRc.103C>T (p.His35Tyr)
c.253C>T (p.His85Tyr)
c.172C>T (p.His58Tyr)
12g.47879011G>CCA384514893VDRc.103C>G (p.His35Asp)
c.253C>G (p.His85Asp)
c.172C>G (p.His58Asp)
12g.47879011G>TCA384514895VDRc.103C>A (p.His35Asn)
c.253C>A (p.His85Asn)
c.172C>A (p.His58Asn)
12g.47879012A>CCA384514897VDRc.102T>G (p.Phe34Leu)
c.252T>G (p.Phe84Leu)
c.171T>G (p.Phe57Leu)
12g.47879012A>GCA479440210VDRc.102T>C (p.Phe34=)
c.252T>C (p.Phe84=)
c.171T>C (p.Phe57=)
12g.47879012A>TCA384514900VDRc.102T>A (p.Phe34Leu)
c.252T>A (p.Phe84Leu)
c.171T>A (p.Phe57Leu)
12g.47879014dupCA2618488830VDRc.102dup (p.His35SerfsTer8)
c.252dup (p.His85SerfsTer8)
c.171dup (p.His58SerfsTer8)
 gnomAD v4
12g.47879013A>CCA384514902VDRc.101T>G (p.Phe34Cys)
c.251T>G (p.Phe84Cys)
c.170T>G (p.Phe57Cys)
12g.47879013A>GCA384514904VDRc.101T>C (p.Phe34Ser)
c.251T>C (p.Phe84Ser)
c.170T>C (p.Phe57Ser)
12g.47879013A>TCA384514906VDRc.101T>A (p.Phe34Tyr)
c.251T>A (p.Phe84Tyr)
c.170T>A (p.Phe57Tyr)
12g.47879014A=CA2034429332VDRc.100T= (p.Phe34=)
c.250T= (p.Phe84=)
c.169T= (p.Phe57=)
12g.47879014A>CCA384514911VDRc.100T>G (p.Phe34Val)
c.250T>G (p.Phe84Val)
c.169T>G (p.Phe57Val)
12g.47879014A>GCA6534079VDRc.100T>C (p.Phe34Leu)
c.250T>C (p.Phe84Leu)
c.169T>C (p.Phe57Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879014A>TCA384514908VDRc.100T>A (p.Phe34Ile)
c.250T>A (p.Phe84Ile)
c.169T>A (p.Phe57Ile)
12g.47879015G>ACA479440212VDRc.99C>T (p.Gly33=)
c.249C>T (p.Gly83=)
c.168C>T (p.Gly56=)
12g.47879015G>CCA479440213VDRc.99C>G (p.Gly33=)
c.249C>G (p.Gly83=)
c.168C>G (p.Gly56=)
12g.47879015G=CA2034429339VDRc.99C= (p.Gly33=)
c.249C= (p.Gly83=)
c.168C= (p.Gly56=)
12g.47879015G>TCA479440214VDRc.99C>A (p.Gly33=)
c.249C>A (p.Gly83=)
c.168C>A (p.Gly56=)
 dbSNP
12g.47879016C>ACA384514914VDRc.98G>T (p.Gly33Val)
c.248G>T (p.Gly83Val)
c.167G>T (p.Gly56Val)
12g.47879016C=CA2034429343VDRc.98G= (p.Gly33=)
c.248G= (p.Gly83=)
c.167G= (p.Gly56=)
12g.47879016C>GCA6534080VDRc.98G>C (p.Gly33Ala)
c.248G>C (p.Gly83Ala)
c.167G>C (p.Gly56Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879016C>TCA119018VDRc.98G>A (p.Gly33Asp)
c.248G>A (p.Gly83Asp)
c.167G>A (p.Gly56Asp)
 ClinVar dbSNP gnomAD v4 COSMIC
12g.47879017C>ACA384514918VDRc.97G>T (p.Gly33Cys)
c.247G>T (p.Gly83Cys)
c.166G>T (p.Gly56Cys)
12g.47879017C>GCA384514920VDRc.97G>C (p.Gly33Arg)
c.247G>C (p.Gly83Arg)
c.166G>C (p.Gly56Arg)
12g.47879017C>TCA384514922VDRc.97G>A (p.Gly33Ser)
c.247G>A (p.Gly83Ser)
c.166G>A (p.Gly56Ser)
12g.47879018A=CA2034429349VDRc.96T= (p.Thr32=)
c.246T= (p.Thr82=)
c.165T= (p.Thr55=)
12g.47879018A>CCA479440217VDRc.96T>G (p.Thr32=)
c.246T>G (p.Thr82=)
c.165T>G (p.Thr55=)
 ClinVar dbSNP gnomAD v4
12g.47879018A>GCA479440215VDRc.96T>C (p.Thr32=)
c.246T>C (p.Thr82=)
c.165T>C (p.Thr55=)
12g.47879018A>TCA479440216VDRc.96T>A (p.Thr32=)
c.246T>A (p.Thr82=)
c.165T>A (p.Thr55=)
12g.47879019G>ACA384514925VDRc.95C>T (p.Thr32Ile)
c.245C>T (p.Thr82Ile)
c.164C>T (p.Thr55Ile)
12g.47879019G>CCA384514927VDRc.95C>G (p.Thr32Ser)
c.245C>G (p.Thr82Ser)
c.164C>G (p.Thr55Ser)
12g.47879019G>TCA384514929VDRc.95C>A (p.Thr32Asn)
c.245C>A (p.Thr82Asn)
c.164C>A (p.Thr55Asn)
12g.47879020T>ACA384514931VDRc.94A>T (p.Thr32Ser)
c.244A>T (p.Thr82Ser)
c.163A>T (p.Thr55Ser)
12g.47879020T>CCA384514933VDRc.94A>G (p.Thr32Ala)
c.244A>G (p.Thr82Ala)
c.163A>G (p.Thr55Ala)
 dbSNP gnomAD v4
12g.47879020T>GCA384514935VDRc.94A>C (p.Thr32Pro)
c.244A>C (p.Thr82Pro)
c.163A>C (p.Thr55Pro)
12g.47879020T=CA2034429353VDRc.94A= (p.Thr32=)
c.244A= (p.Thr82=)
c.163A= (p.Thr55=)
12g.47879021G>ACA479440218VDRc.93C>T (p.Ala31=)
c.243C>T (p.Ala81=)
c.162C>T (p.Ala54=)
 dbSNP gnomAD v4
12g.47879021G>CCA479440219VDRc.93C>G (p.Ala31=)
c.243C>G (p.Ala81=)
c.162C>G (p.Ala54=)
12g.47879021G>TCA479440220VDRc.93C>A (p.Ala31=)
c.243C>A (p.Ala81=)
c.162C>A (p.Ala54=)
12g.47879022G>ACA384514939VDRc.92C>T (p.Ala31Val)
c.242C>T (p.Ala81Val)
c.161C>T (p.Ala54Val)
 dbSNP gnomAD v4
12g.47879022G>CCA384514942VDRc.92C>G (p.Ala31Gly)
c.242C>G (p.Ala81Gly)
c.161C>G (p.Ala54Gly)
12g.47879022G=CA2034429357VDRc.92C= (p.Ala31=)
c.242C= (p.Ala81=)
c.161C= (p.Ala54=)
12g.47879022G>TCA384514938VDRc.92C>A (p.Ala31Asp)
c.242C>A (p.Ala81Asp)
c.161C>A (p.Ala54Asp)
12g.47879023C>ACA384514943VDRc.91G>T (p.Ala31Ser)
c.241G>T (p.Ala81Ser)
c.160G>T (p.Ala54Ser)
12g.47879023C>GCA384514944VDRc.91G>C (p.Ala31Pro)
c.241G>C (p.Ala81Pro)
c.160G>C (p.Ala54Pro)
12g.47879023C>TCA384514946VDRc.91G>A (p.Ala31Thr)
c.241G>A (p.Ala81Thr)
c.160G>A (p.Ala54Thr)
12g.47879024T>ACA479440221VDRc.90A>T (p.Arg30=)
c.240A>T (p.Arg80=)
c.159A>T (p.Arg53=)
12g.47879024T>CCA6534081VDRc.90A>G (p.Arg30=)
c.240A>G (p.Arg80=)
c.159A>G (p.Arg53=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879024T>GCA479440222VDRc.90A>C (p.Arg30=)
c.240A>C (p.Arg80=)
c.159A>C (p.Arg53=)
12g.47879024T=CA2034429361VDRc.90A= (p.Arg30=)
c.240A= (p.Arg80=)
c.159A= (p.Arg53=)
12g.47879025C>ACA384514952VDRc.89G>T (p.Arg30Leu)
c.239G>T (p.Arg80Leu)
c.158G>T (p.Arg53Leu)
12g.47879025C=CA2034429366VDRc.89G= (p.Arg30=)
c.239G= (p.Arg80=)
c.158G= (p.Arg53=)
12g.47879025C>GCA384514950VDRc.89G>C (p.Arg30Pro)
c.239G>C (p.Arg80Pro)
c.158G>C (p.Arg53Pro)
12g.47879025C>TCA6534082VDRc.89G>A (p.Arg30Gln)
c.239G>A (p.Arg80Gln)
c.158G>A (p.Arg53Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879026G>ACA119042VDRc.88C>T (p.Arg30Ter)
c.238C>T (p.Arg80Ter)
c.157C>T (p.Arg53Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879026G>CCA6534083VDRc.88C>G (p.Arg30Gly)
c.238C>G (p.Arg80Gly)
c.157C>G (p.Arg53Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879026G=CA2034429372VDRc.88C= (p.Arg30=)
c.238C= (p.Arg80=)
c.157C= (p.Arg53=)
12g.47879026G>TCA479440223VDRc.88C>A (p.Arg30=)
c.238C>A (p.Arg80=)
c.157C>A (p.Arg53=)
12g.47879027G>ACA479440224VDRc.87C>T (p.Asp29=)
c.237C>T (p.Asp79=)
c.156C>T (p.Asp52=)
 dbSNP gnomAD v2 gnomAD v4
12g.47879027G>CCA384514957VDRc.87C>G (p.Asp29Glu)
c.237C>G (p.Asp79Glu)
c.156C>G (p.Asp52Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.47879027G=CA2034429377VDRc.87C= (p.Asp29=)
c.237C= (p.Asp79=)
c.156C= (p.Asp52=)
12g.47879027G>TCA384514959VDRc.87C>A (p.Asp29Glu)
c.237C>A (p.Asp79Glu)
c.156C>A (p.Asp52Glu)
12g.47879028T>ACA384514962VDRc.86A>T (p.Asp29Val)
c.236A>T (p.Asp79Val)
c.155A>T (p.Asp52Val)
12g.47879028T>CCA384514964VDRc.86A>G (p.Asp29Gly)
c.236A>G (p.Asp79Gly)
c.155A>G (p.Asp52Gly)
 ClinVar dbSNP
12g.47879028T>GCA384514966VDRc.86A>C (p.Asp29Ala)
c.236A>C (p.Asp79Ala)
c.155A>C (p.Asp52Ala)
 dbSNP gnomAD v2
12g.47879028T=CA2034429380VDRc.86A= (p.Asp29=)
c.236A= (p.Asp79=)
c.155A= (p.Asp52=)
12g.47879029C>ACA384514972VDRc.85G>T (p.Asp29Tyr)
c.235G>T (p.Asp79Tyr)
c.154G>T (p.Asp52Tyr)
12g.47879029C>GCA384514970VDRc.85G>C (p.Asp29His)
c.235G>C (p.Asp79His)
c.154G>C (p.Asp52His)
12g.47879029C>TCA384514967VDRc.85G>A (p.Asp29Asn)
c.235G>A (p.Asp79Asn)
c.154G>A (p.Asp52Asn)
12g.47879030T>ACA6534084VDRc.84A>T (p.Gly28=)
c.234A>T (p.Gly78=)
c.153A>T (p.Gly51=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879030T>CCA479440225VDRc.84A>G (p.Gly28=)
c.234A>G (p.Gly78=)
c.153A>G (p.Gly51=)
12g.47879030T>GCA479440226VDRc.84A>C (p.Gly28=)
c.234A>C (p.Gly78=)
c.153A>C (p.Gly51=)
12g.47879030T=CA2034429384VDRc.84A= (p.Gly28=)
c.234A= (p.Gly78=)
c.153A= (p.Gly51=)
12g.47879031C>ACA384514976VDRc.83G>T (p.Gly28Val)
c.233G>T (p.Gly78Val)
c.152G>T (p.Gly51Val)
12g.47879031C>GCA384514980VDRc.83G>C (p.Gly28Ala)
c.233G>C (p.Gly78Ala)
c.152G>C (p.Gly51Ala)
 COSMIC
12g.47879031C>TCA384514978VDRc.83G>A (p.Gly28Glu)
c.233G>A (p.Gly78Glu)
c.152G>A (p.Gly51Glu)
 gnomAD v4
12g.47879032C>ACA384514983VDRc.82G>T (p.Gly28Ter)
c.232G>T (p.Gly78Ter)
c.151G>T (p.Gly51Ter)
12g.47879032C>GCA384514986VDRc.82G>C (p.Gly28Arg)
c.232G>C (p.Gly78Arg)
c.151G>C (p.Gly51Arg)
12g.47879032C>TCA384514985VDRc.82G>A (p.Gly28Arg)
c.232G>A (p.Gly78Arg)
c.151G>A (p.Gly51Arg)
12g.47879033A>CCA384514989VDRc.81T>G (p.Cys27Trp)
c.231T>G (p.Cys77Trp)
c.150T>G (p.Cys50Trp)
12g.47879033A>GCA479440227VDRc.81T>C (p.Cys27=)
c.231T>C (p.Cys77=)
c.150T>C (p.Cys50=)
12g.47879033A>TCA384514990VDRc.81T>A (p.Cys27Ter)
c.231T>A (p.Cys77Ter)
c.150T>A (p.Cys50Ter)
12g.47879034C>ACA384514993VDRc.80G>T (p.Cys27Phe)
c.230G>T (p.Cys77Phe)
c.149G>T (p.Cys50Phe)
12g.47879034C>GCA384514995VDRc.80G>C (p.Cys27Ser)
c.230G>C (p.Cys77Ser)
c.149G>C (p.Cys50Ser)
12g.47879034C>TCA384514997VDRc.80G>A (p.Cys27Tyr)
c.230G>A (p.Cys77Tyr)
c.149G>A (p.Cys50Tyr)
12g.47879035A>CCA384514999VDRc.79T>G (p.Cys27Gly)
c.229T>G (p.Cys77Gly)
c.148T>G (p.Cys50Gly)
12g.47879035A>GCA384515000VDRc.79T>C (p.Cys27Arg)
c.229T>C (p.Cys77Arg)
c.148T>C (p.Cys50Arg)
 ClinVar
12g.47879035A>TCA384515001VDRc.79T>A (p.Cys27Ser)
c.229T>A (p.Cys77Ser)
c.148T>A (p.Cys50Ser)
12g.47879036C>ACA479440228VDRc.78G>T (p.Val26=)
c.228G>T (p.Val76=)
c.147G>T (p.Val49=)
12g.47879036C=CA2034429387VDRc.78G= (p.Val26=)
c.228G= (p.Val76=)
c.147G= (p.Val49=)
12g.47879036C>GCA479440229VDRc.78G>C (p.Val26=)
c.228G>C (p.Val76=)
c.147G>C (p.Val49=)
12g.47879036C>TCA236485051VDRc.78G>A (p.Val26=)
c.228G>A (p.Val76=)
c.147G>A (p.Val49=)
 dbSNP gnomAD v4
12g.47879037A=CA2034429391VDRc.77T= (p.Val26=)
c.227T= (p.Val76=)
c.146T= (p.Val49=)
12g.47879037A>CCA384515004VDRc.77T>G (p.Val26Gly)
c.227T>G (p.Val76Gly)
c.146T>G (p.Val49Gly)
12g.47879037A>GCA384515005VDRc.77T>C (p.Val26Ala)
c.227T>C (p.Val76Ala)
c.146T>C (p.Val49Ala)
12g.47879037A>TCA384515007VDRc.77T>A (p.Val26Glu)
c.227T>A (p.Val76Glu)
c.146T>A (p.Val49Glu)
12g.47879037_47879038insTCA6534085VDRc.76_77insA (p.Val26AspfsTer17)
c.226_227insA (p.Val76AspfsTer17)
c.145_146insA (p.Val49AspfsTer17)
 dbSNP ExAC
12g.47879038C>ACA384515012VDRc.76G>T (p.Val26Leu)
c.226G>T (p.Val76Leu)
c.145G>T (p.Val49Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.47879038C=CA2034429394VDRc.76G= (p.Val26=)
c.226G= (p.Val76=)
c.145G= (p.Val49=)
12g.47879038C>GCA384515011VDRc.76G>C (p.Val26Leu)
c.226G>C (p.Val76Leu)
c.145G>C (p.Val49Leu)
 gnomAD v4
12g.47879038C>TCA384515010VDRc.76G>A (p.Val26Met)
c.226G>A (p.Val76Met)
c.145G>A (p.Val49Met)
 ClinVar
12g.47879039C>ACA479440232VDRc.75G>T (p.Gly25=)
c.225G>T (p.Gly75=)
c.144G>T (p.Gly48=)
 dbSNP gnomAD v2 gnomAD v4
12g.47879039C=CA2034429399VDRc.75G= (p.Gly25=)
c.225G= (p.Gly75=)
c.144G= (p.Gly48=)
12g.47879039C>GCA479440230VDRc.75G>C (p.Gly25=)
c.225G>C (p.Gly75=)
c.144G>C (p.Gly48=)
12g.47879039C>TCA479440231VDRc.75G>A (p.Gly25=)
c.225G>A (p.Gly75=)
c.144G>A (p.Gly48=)
 gnomAD v4
12g.47879040C>ACA384515015VDRc.74G>T (p.Gly25Val)
c.224G>T (p.Gly75Val)
c.143G>T (p.Gly48Val)
12g.47879040C>GCA384515017VDRc.74G>C (p.Gly25Ala)
c.224G>C (p.Gly75Ala)
c.143G>C (p.Gly48Ala)
12g.47879040C>TCA384515019VDRc.74G>A (p.Gly25Glu)
c.224G>A (p.Gly75Glu)
c.143G>A (p.Gly48Glu)
 gnomAD v4
12g.47879041C>ACA384515021VDRc.73G>T (p.Gly25Trp)
c.223G>T (p.Gly75Trp)
c.142G>T (p.Gly48Trp)
12g.47879041C>GCA384515023VDRc.73G>C (p.Gly25Arg)
c.223G>C (p.Gly75Arg)
c.142G>C (p.Gly48Arg)
12g.47879041C>TCA384515025VDRc.73G>A (p.Gly25Arg)
c.223G>A (p.Gly75Arg)
c.142G>A (p.Gly48Arg)
12g.47879042A>CCA384515027VDRc.72T>G (p.Cys24Trp)
c.222T>G (p.Cys74Trp)
c.141T>G (p.Cys47Trp)
12g.47879042A>GCA479440233VDRc.72T>C (p.Cys24=)
c.222T>C (p.Cys74=)
c.141T>C (p.Cys47=)
 ClinVar
12g.47879042A>TCA384515028VDRc.72T>A (p.Cys24Ter)
c.222T>A (p.Cys74Ter)
c.141T>A (p.Cys47Ter)
12g.47879043C>ACA384515033VDRc.71G>T (p.Cys24Phe)
c.221G>T (p.Cys74Phe)
c.140G>T (p.Cys47Phe)
12g.47879043C=CA2034429402VDRc.71G= (p.Cys24=)
c.221G= (p.Cys74=)
c.140G= (p.Cys47=)
12g.47879043C>GCA384515034VDRc.71G>C (p.Cys24Ser)
c.221G>C (p.Cys74Ser)
c.140G>C (p.Cys47Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47879043C>TCA384515031VDRc.71G>A (p.Cys24Tyr)
c.221G>A (p.Cys74Tyr)
c.140G>A (p.Cys47Tyr)
12g.47879044A>CCA384515037VDRc.70T>G (p.Cys24Gly)
c.220T>G (p.Cys74Gly)
c.139T>G (p.Cys47Gly)
12g.47879044A>GCA384515039VDRc.70T>C (p.Cys24Arg)
c.220T>C (p.Cys74Arg)
c.139T>C (p.Cys47Arg)
12g.47879044A>TCA384515041VDRc.70T>A (p.Cys24Ser)
c.220T>A (p.Cys74Ser)
c.139T>A (p.Cys47Ser)
12g.47879045G>ACA479440234VDRc.69C>T (p.Ile23=)
c.219C>T (p.Ile73=)
c.138C>T (p.Ile46=)
12g.47879045G>CCA384515043VDRc.69C>G (p.Ile23Met)
c.219C>G (p.Ile73Met)
c.138C>G (p.Ile46Met)
12g.47879045G>TCA479440235VDRc.69C>A (p.Ile23=)
c.219C>A (p.Ile73=)
c.138C>A (p.Ile46=)
12g.47879046A>CCA384515046VDRc.68T>G (p.Ile23Ser)
c.218T>G (p.Ile73Ser)
c.137T>G (p.Ile46Ser)
12g.47879046A>GCA384515047VDRc.68T>C (p.Ile23Thr)
c.218T>C (p.Ile73Thr)
c.137T>C (p.Ile46Thr)
 gnomAD v4
12g.47879046A>TCA384515049VDRc.68T>A (p.Ile23Asn)
c.218T>A (p.Ile73Asn)
c.137T>A (p.Ile46Asn)
12g.47879047T>ACA384515052VDRc.67A>T (p.Ile23Phe)
c.217A>T (p.Ile73Phe)
c.136A>T (p.Ile46Phe)
12g.47879047T>CCA384515053VDRc.67A>G (p.Ile23Val)
c.217A>G (p.Ile73Val)
c.136A>G (p.Ile46Val)
12g.47879047T>GCA384515055VDRc.67A>C (p.Ile23Leu)
c.217A>C (p.Ile73Leu)
c.136A>C (p.Ile46Leu)
 dbSNP gnomAD v4
12g.47879047T=CA2034429403VDRc.67A= (p.Ile23=)
c.217A= (p.Ile73=)
c.136A= (p.Ile46=)
12g.47879048C>ACA479440237VDRc.66G>T (p.Arg22=)
c.216G>T (p.Arg72=)
c.135G>T (p.Arg45=)
12g.47879048C=CA2034429405VDRc.66G= (p.Arg22=)
c.216G= (p.Arg72=)
c.135G= (p.Arg45=)
12g.47879048C>GCA479440238VDRc.66G>C (p.Arg22=)
c.216G>C (p.Arg72=)
c.135G>C (p.Arg45=)
 gnomAD v4
12g.47879048C>TCA479440239VDRc.66G>A (p.Arg22=)
c.216G>A (p.Arg72=)
c.135G>A (p.Arg45=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47879049dupCA2695216259VDRc.66dup (p.Ile23AspfsTer20)
c.216dup (p.Ile73AspfsTer20)
c.135dup (p.Ile46AspfsTer20)
12g.47879049C>ACA6534087VDRc.65G>T (p.Arg22Leu)
c.215G>T (p.Arg72Leu)
c.134G>T (p.Arg45Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879049C=CA2034429408VDRc.65G= (p.Arg22=)
c.215G= (p.Arg72=)
c.134G= (p.Arg45=)
12g.47879049C>GCA384515058VDRc.65G>C (p.Arg22Pro)
c.215G>C (p.Arg72Pro)
c.134G>C (p.Arg45Pro)
 ClinVar gnomAD v4
12g.47879049C>TCA6534086VDRc.65G>A (p.Arg22Gln)
c.215G>A (p.Arg72Gln)
c.134G>A (p.Arg45Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879050G>ACA6534088VDRc.64C>T (p.Arg22Trp)
c.214C>T (p.Arg72Trp)
c.133C>T (p.Arg45Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879050G>CCA384515061VDRc.64C>G (p.Arg22Gly)
c.214C>G (p.Arg72Gly)
c.133C>G (p.Arg45Gly)
12g.47879050G=CA2034429414VDRc.64C= (p.Arg22=)
c.214C= (p.Arg72=)
c.133C= (p.Arg45=)
12g.47879050G>TCA479440240VDRc.64C>A (p.Arg22=)
c.214C>A (p.Arg72=)
c.133C>A (p.Arg45=)
12g.47879051G>ACA479440241VDRc.63C>T (p.Pro21=)
c.213C>T (p.Pro71=)
c.132C>T (p.Pro44=)
12g.47879051G>CCA479440242VDRc.63C>G (p.Pro21=)
c.213C>G (p.Pro71=)
c.132C>G (p.Pro44=)
12g.47879051G>TCA479440243VDRc.63C>A (p.Pro21=)
c.213C>A (p.Pro71=)
c.132C>A (p.Pro44=)
12g.47879052G>ACA6534089VDRc.62C>T (p.Pro21Leu)
c.212C>T (p.Pro71Leu)
c.131C>T (p.Pro44Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879052G>CCA384515064VDRc.62C>G (p.Pro21Arg)
c.212C>G (p.Pro71Arg)
c.131C>G (p.Pro44Arg)
12g.47879052G=CA2034429418VDRc.62C= (p.Pro21=)
c.212C= (p.Pro71=)
c.131C= (p.Pro44=)
12g.47879052G>TCA384515066VDRc.62C>A (p.Pro21His)
c.212C>A (p.Pro71His)
c.131C>A (p.Pro44His)
12g.47879053_47879106dupCA2618489048VDRc.9_62dup (p.Pro21_Arg22insMetAlaAlaSerThrSerLeuProAspProGlyAspPheAspArgAsnValPro)
c.159_212dup (p.Pro71_Arg72insMetAlaAlaSerThrSerLeuProAspProGlyAspPheAspArgAsnValPro)
c.78_131dup (p.Pro44_Arg45insMetAlaAlaSerThrSerLeuProAspProGlyAspPheAspArgAsnValPro)
 gnomAD v4
12g.47879053G>ACA6534091VDRc.61C>T (p.Pro21Ser)
c.211C>T (p.Pro71Ser)
c.130C>T (p.Pro44Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879053G>CCA384515070VDRc.61C>G (p.Pro21Ala)
c.211C>G (p.Pro71Ala)
c.130C>G (p.Pro44Ala)
 dbSNP
12g.47879053G=CA2034429423VDRc.61C= (p.Pro21=)
c.211C= (p.Pro71=)
c.130C= (p.Pro44=)
12g.47879053G>TCA6534090VDRc.61C>A (p.Pro21Thr)
c.211C>A (p.Pro71Thr)
c.130C>A (p.Pro44Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879054C>ACA479440244VDRc.60G>T (p.Val20=)
c.210G>T (p.Val70=)
c.129G>T (p.Val43=)
12g.47879054C=CA2034429428VDRc.60G= (p.Val20=)
c.210G= (p.Val70=)
c.129G= (p.Val43=)
12g.47879054C>GCA479440245VDRc.60G>C (p.Val20=)
c.210G>C (p.Val70=)
c.129G>C (p.Val43=)
12g.47879054C>TCA6534092VDRc.60G>A (p.Val20=)
c.210G>A (p.Val70=)
c.129G>A (p.Val43=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879055A>CCA384515074VDRc.59T>G (p.Val20Gly)
c.209T>G (p.Val70Gly)
c.128T>G (p.Val43Gly)
12g.47879055A>GCA384515075VDRc.59T>C (p.Val20Ala)
c.209T>C (p.Val70Ala)
c.128T>C (p.Val43Ala)
12g.47879055A>TCA384515077VDRc.59T>A (p.Val20Glu)
c.209T>A (p.Val70Glu)
c.128T>A (p.Val43Glu)
12g.47879056C>ACA384515079VDRc.58G>T (p.Val20Leu)
c.208G>T (p.Val70Leu)
c.127G>T (p.Val43Leu)
12g.47879056C=CA2034429431VDRc.58G= (p.Val20=)
c.208G= (p.Val70=)
c.127G= (p.Val43=)
12g.47879056C>GCA384515081VDRc.58G>C (p.Val20Leu)
c.208G>C (p.Val70Leu)
c.127G>C (p.Val43Leu)
12g.47879056C>TCA6534093VDRc.58G>A (p.Val20Met)
c.208G>A (p.Val70Met)
c.127G>A (p.Val43Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879057G>ACA6534094VDRc.57C>T (p.Asn19=)
c.207C>T (p.Asn69=)
c.126C>T (p.Asn42=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879057G>CCA384515087VDRc.57C>G (p.Asn19Lys)
c.207C>G (p.Asn69Lys)
c.126C>G (p.Asn42Lys)
12g.47879057G=CA2034429435VDRc.57C= (p.Asn19=)
c.207C= (p.Asn69=)
c.126C= (p.Asn42=)
12g.47879057G>TCA384515084VDRc.57C>A (p.Asn19Lys)
c.207C>A (p.Asn69Lys)
c.126C>A (p.Asn42Lys)
12g.47879058T>ACA384515091VDRc.56A>T (p.Asn19Ile)
c.206A>T (p.Asn69Ile)
c.125A>T (p.Asn42Ile)
12g.47879058T>CCA236485093VDRc.56A>G (p.Asn19Ser)
c.206A>G (p.Asn69Ser)
c.125A>G (p.Asn42Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47879058T>GCA384515090VDRc.56A>C (p.Asn19Thr)
c.206A>C (p.Asn69Thr)
c.125A>C (p.Asn42Thr)
12g.47879058T=CA2034429439VDRc.56A= (p.Asn19=)
c.206A= (p.Asn69=)
c.125A= (p.Asn42=)
12g.47879059T>ACA384515094VDRc.55A>T (p.Asn19Tyr)
c.205A>T (p.Asn69Tyr)
c.124A>T (p.Asn42Tyr)
12g.47879059T>CCA384515095VDRc.55A>G (p.Asn19Asp)
c.205A>G (p.Asn69Asp)
c.124A>G (p.Asn42Asp)
12g.47879059T>GCA384515097VDRc.55A>C (p.Asn19His)
c.205A>C (p.Asn69His)
c.124A>C (p.Asn42His)
12g.47879060C>ACA479440248VDRc.54G>T (p.Arg18=)
c.204G>T (p.Arg68=)
c.123G>T (p.Arg41=)
12g.47879060C=CA2034429440VDRc.54G= (p.Arg18=)
c.204G= (p.Arg68=)
c.123G= (p.Arg41=)
12g.47879060C>GCA479440249VDRc.54G>C (p.Arg18=)
c.204G>C (p.Arg68=)
c.123G>C (p.Arg41=)
12g.47879060C>TCA6534095VDRc.54G>A (p.Arg18=)
c.204G>A (p.Arg68=)
c.123G>A (p.Arg41=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879061C>ACA384515100VDRc.53G>T (p.Arg18Leu)
c.203G>T (p.Arg68Leu)
c.122G>T (p.Arg41Leu)
 gnomAD v4
12g.47879061C=CA2034429442VDRc.53G= (p.Arg18=)
c.203G= (p.Arg68=)
c.122G= (p.Arg41=)
12g.47879061C>GCA384515103VDRc.53G>C (p.Arg18Pro)
c.203G>C (p.Arg68Pro)
c.122G>C (p.Arg41Pro)
 dbSNP gnomAD v3 gnomAD v4
12g.47879061C>TCA6534096VDRc.53G>A (p.Arg18Gln)
c.203G>A (p.Arg68Gln)
c.122G>A (p.Arg41Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879061_47879076delinsCGGTCAAAGTCTCCAGCA2034429443VDRc.38_53delinsCTGGAGACTTTGACCG (p.Pro13=)
c.188_203delinsCTGGAGACTTTGACCG (p.Pro63=)
c.107_122delinsCTGGAGACTTTGACCG (p.Pro36=)
12g.47879062G>ACA6534099VDRc.52C>T (p.Arg18Trp)
c.202C>T (p.Arg68Trp)
c.121C>T (p.Arg41Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.47879062G>CCA384515108VDRc.52C>G (p.Arg18Gly)
c.202C>G (p.Arg68Gly)
c.121C>G (p.Arg41Gly)
12g.47879062G=CA2034429449VDRc.52C= (p.Arg18=)
c.202C= (p.Arg68=)
c.121C= (p.Arg41=)
12g.47879062G>TCA6534098VDRc.52C>A (p.Arg18=)
c.202C>A (p.Arg68=)
c.121C>A (p.Arg41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879067_47879081delCA6534097VDRc.38_52del (p.Pro13_Asp17del)
c.188_202del (p.Pro63_Asp67del)
c.107_121del (p.Pro36_Asp40del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879063G>ACA479440251VDRc.51C>T (p.Asp17=)
c.201C>T (p.Asp67=)
c.120C>T (p.Asp40=)
 dbSNP gnomAD v3 gnomAD v4
12g.47879063G>CCA384515112VDRc.51C>G (p.Asp17Glu)
c.201C>G (p.Asp67Glu)
c.120C>G (p.Asp40Glu)
12g.47879063G=CA2034429458VDRc.51C= (p.Asp17=)
c.201C= (p.Asp67=)
c.120C= (p.Asp40=)
12g.47879063G>TCA384515114VDRc.51C>A (p.Asp17Glu)
c.201C>A (p.Asp67Glu)
c.120C>A (p.Asp40Glu)
12g.47879064T>ACA384515116VDRc.50A>T (p.Asp17Val)
c.200A>T (p.Asp67Val)
c.119A>T (p.Asp40Val)
12g.47879064T>CCA384515118VDRc.50A>G (p.Asp17Gly)
c.200A>G (p.Asp67Gly)
c.119A>G (p.Asp40Gly)
 gnomAD v4
12g.47879064T>GCA384515120VDRc.50A>C (p.Asp17Ala)
c.200A>C (p.Asp67Ala)
c.119A>C (p.Asp40Ala)
12g.47879065C>ACA384515123VDRc.49G>T (p.Asp17Tyr)
c.199G>T (p.Asp67Tyr)
c.118G>T (p.Asp40Tyr)
12g.47879065C>GCA384515125VDRc.49G>C (p.Asp17His)
c.199G>C (p.Asp67His)
c.118G>C (p.Asp40His)
 gnomAD v4
12g.47879065C>TCA384515126VDRc.49G>A (p.Asp17Asn)
c.199G>A (p.Asp67Asn)
c.118G>A (p.Asp40Asn)
12g.47879066A=CA2034429463VDRc.48T= (p.Phe16=)
c.198T= (p.Phe66=)
c.117T= (p.Phe39=)
12g.47879066A>CCA384515129VDRc.48T>G (p.Phe16Leu)
c.198T>G (p.Phe66Leu)
c.117T>G (p.Phe39Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.47879066A>GCA6534100VDRc.48T>C (p.Phe16=)
c.198T>C (p.Phe66=)
c.117T>C (p.Phe39=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879066A>TCA384515132VDRc.48T>A (p.Phe16Leu)
c.198T>A (p.Phe66Leu)
c.117T>A (p.Phe39Leu)
12g.47879067A>CCA384515134VDRc.47T>G (p.Phe16Cys)
c.197T>G (p.Phe66Cys)
c.116T>G (p.Phe39Cys)
12g.47879067A>GCA384515136VDRc.47T>C (p.Phe16Ser)
c.197T>C (p.Phe66Ser)
c.116T>C (p.Phe39Ser)
12g.47879067A>TCA384515138VDRc.47T>A (p.Phe16Tyr)
c.197T>A (p.Phe66Tyr)
c.116T>A (p.Phe39Tyr)
12g.47879068A>CCA384515142VDRc.46T>G (p.Phe16Val)
c.196T>G (p.Phe66Val)
c.115T>G (p.Phe39Val)
12g.47879068A>GCA384515144VDRc.46T>C (p.Phe16Leu)
c.196T>C (p.Phe66Leu)
c.115T>C (p.Phe39Leu)
 gnomAD v4
12g.47879068A>TCA384515140VDRc.46T>A (p.Phe16Ile)
c.196T>A (p.Phe66Ile)
c.115T>A (p.Phe39Ile)
12g.47879069G>ACA479440252VDRc.45C>T (p.Asp15=)
c.195C>T (p.Asp65=)
c.114C>T (p.Asp38=)
 dbSNP gnomAD v3 gnomAD v4
12g.47879069G>CCA384515146VDRc.45C>G (p.Asp15Glu)
c.195C>G (p.Asp65Glu)
c.114C>G (p.Asp38Glu)
 gnomAD v4
12g.47879069G=CA2034429469VDRc.45C= (p.Asp15=)
c.195C= (p.Asp65=)
c.114C= (p.Asp38=)
12g.47879069G>TCA384515147VDRc.45C>A (p.Asp15Glu)
c.195C>A (p.Asp65Glu)
c.114C>A (p.Asp38Glu)
12g.47879070T>ACA384515149VDRc.44A>T (p.Asp15Val)
c.194A>T (p.Asp65Val)
c.113A>T (p.Asp38Val)
12g.47879070T>CCA384515151VDRc.44A>G (p.Asp15Gly)
c.194A>G (p.Asp65Gly)
c.113A>G (p.Asp38Gly)
 dbSNP
12g.47879070T>GCA384515153VDRc.44A>C (p.Asp15Ala)
c.194A>C (p.Asp65Ala)
c.113A>C (p.Asp38Ala)
12g.47879070T=CA2034429473VDRc.44A= (p.Asp15=)
c.194A= (p.Asp65=)
c.113A= (p.Asp38=)
12g.47879071C>ACA384515156VDRc.43G>T (p.Asp15Tyr)
c.193G>T (p.Asp65Tyr)
c.112G>T (p.Asp38Tyr)
12g.47879071C>GCA384515157VDRc.43G>C (p.Asp15His)
c.193G>C (p.Asp65His)
c.112G>C (p.Asp38His)
12g.47879071C>TCA384515159VDRc.43G>A (p.Asp15Asn)
c.193G>A (p.Asp65Asn)
c.112G>A (p.Asp38Asn)
12g.47879072T>ACA479440253VDRc.42A>T (p.Gly14=)
c.192A>T (p.Gly64=)
c.111A>T (p.Gly37=)
12g.47879072T>CCA479440254VDRc.42A>G (p.Gly14=)
c.192A>G (p.Gly64=)
c.111A>G (p.Gly37=)
12g.47879072T>GCA479440255VDRc.42A>C (p.Gly14=)
c.192A>C (p.Gly64=)
c.111A>C (p.Gly37=)
12g.47879073C>ACA384515161VDRc.41G>T (p.Gly14Val)
c.191G>T (p.Gly64Val)
c.110G>T (p.Gly37Val)
12g.47879073C=CA2034429477VDRc.41G= (p.Gly14=)
c.191G= (p.Gly64=)
c.110G= (p.Gly37=)
12g.47879073C>GCA236485133VDRc.41G>C (p.Gly14Ala)
c.191G>C (p.Gly64Ala)
c.110G>C (p.Gly37Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.47879073C>TCA384515164VDRc.41G>A (p.Gly14Glu)
c.191G>A (p.Gly64Glu)
c.110G>A (p.Gly37Glu)
 dbSNP gnomAD v3 gnomAD v4
12g.47879074C>ACA384515166VDRc.40G>T (p.Gly14Ter)
c.190G>T (p.Gly64Ter)
c.109G>T (p.Gly37Ter)
12g.47879074C=CA2034429479VDRc.40G= (p.Gly14=)
c.190G= (p.Gly64=)
c.109G= (p.Gly37=)
12g.47879074C>GCA384515168VDRc.40G>C (p.Gly14Arg)
c.190G>C (p.Gly64Arg)
c.109G>C (p.Gly37Arg)
12g.47879074C>TCA384515170VDRc.40G>A (p.Gly14Arg)
c.190G>A (p.Gly64Arg)
c.109G>A (p.Gly37Arg)
 dbSNP gnomAD v3 gnomAD v4
12g.47879075A>CCA479440256VDRc.39T>G (p.Pro13=)
c.189T>G (p.Pro63=)
c.108T>G (p.Pro36=)
12g.47879075A>GCA479440257VDRc.39T>C (p.Pro13=)
c.189T>C (p.Pro63=)
c.108T>C (p.Pro36=)
12g.47879075A>TCA479440258VDRc.39T>A (p.Pro13=)
c.189T>A (p.Pro63=)
c.108T>A (p.Pro36=)
12g.47879076G>ACA384515175VDRc.38C>T (p.Pro13Leu)
c.188C>T (p.Pro63Leu)
c.107C>T (p.Pro36Leu)
12g.47879076G>CCA384515174VDRc.38C>G (p.Pro13Arg)
c.188C>G (p.Pro63Arg)
c.107C>G (p.Pro36Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.47879076G=CA2034429482VDRc.38C= (p.Pro13=)
c.188C= (p.Pro63=)
c.107C= (p.Pro36=)
12g.47879076G>TCA384515172VDRc.38C>A (p.Pro13His)
c.188C>A (p.Pro63His)
c.107C>A (p.Pro36His)
12g.47879077G>ACA6534101VDRc.37C>T (p.Pro13Ser)
c.187C>T (p.Pro63Ser)
c.106C>T (p.Pro36Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879077G>CCA384515179VDRc.37C>G (p.Pro13Ala)
c.187C>G (p.Pro63Ala)
c.106C>G (p.Pro36Ala)
12g.47879077G=CA2034429487VDRc.37C= (p.Pro13=)
c.187C= (p.Pro63=)
c.106C= (p.Pro36=)
12g.47879077G>TCA384515181VDRc.37C>A (p.Pro13Thr)
c.187C>A (p.Pro63Thr)
c.106C>A (p.Pro36Thr)
12g.47879078G>ACA236485143VDRc.36C>T (p.Asp12=)
c.186C>T (p.Asp62=)
c.105C>T (p.Asp35=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47879078G>CCA384515182VDRc.36C>G (p.Asp12Glu)
c.186C>G (p.Asp62Glu)
c.105C>G (p.Asp35Glu)
12g.47879078G=CA2034429490VDRc.36C= (p.Asp12=)
c.186C= (p.Asp62=)
c.105C= (p.Asp35=)
12g.47879078G>TCA384515184VDRc.36C>A (p.Asp12Glu)
c.186C>A (p.Asp62Glu)
c.105C>A (p.Asp35Glu)
12g.47879079T>ACA384515186VDRc.35A>T (p.Asp12Val)
c.185A>T (p.Asp62Val)
c.104A>T (p.Asp35Val)
12g.47879079T>CCA236485148VDRc.35A>G (p.Asp12Gly)
c.185A>G (p.Asp62Gly)
c.104A>G (p.Asp35Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.47879079T>GCA384515189VDRc.35A>C (p.Asp12Ala)
c.185A>C (p.Asp62Ala)
c.104A>C (p.Asp35Ala)
12g.47879079T=CA2034429492VDRc.35A= (p.Asp12=)
c.185A= (p.Asp62=)
c.104A= (p.Asp35=)
12g.47879080C>ACA384515191VDRc.34G>T (p.Asp12Tyr)
c.184G>T (p.Asp62Tyr)
c.103G>T (p.Asp35Tyr)
12g.47879080C>GCA384515193VDRc.34G>C (p.Asp12His)
c.184G>C (p.Asp62His)
c.103G>C (p.Asp35His)
12g.47879080C>TCA384515195VDRc.34G>A (p.Asp12Asn)
c.184G>A (p.Asp62Asn)
c.103G>A (p.Asp35Asn)
12g.47879081A=CA2034429495VDRc.33T= (p.Pro11=)
c.183T= (p.Pro61=)
c.102T= (p.Pro34=)
12g.47879081A>CCA479440261VDRc.33T>G (p.Pro11=)
c.183T>G (p.Pro61=)
c.102T>G (p.Pro34=)
12g.47879081A>GCA479440260VDRc.33T>C (p.Pro11=)
c.183T>C (p.Pro61=)
c.102T>C (p.Pro34=)
12g.47879081A>TCA479440259VDRc.33T>A (p.Pro11=)
c.183T>A (p.Pro61=)
c.102T>A (p.Pro34=)
 dbSNP
12g.47879082G>ACA384515197VDRc.32C>T (p.Pro11Leu)
c.182C>T (p.Pro61Leu)
c.101C>T (p.Pro34Leu)
 gnomAD v4
12g.47879082G>CCA384515200VDRc.32C>G (p.Pro11Arg)
c.182C>G (p.Pro61Arg)
c.101C>G (p.Pro34Arg)
12g.47879082G>TCA384515201VDRc.32C>A (p.Pro11His)
c.182C>A (p.Pro61His)
c.101C>A (p.Pro34His)
12g.47879083G>ACA384515205VDRc.31C>T (p.Pro11Ser)
c.181C>T (p.Pro61Ser)
c.100C>T (p.Pro34Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.47879083G>CCA384515207VDRc.31C>G (p.Pro11Ala)
c.181C>G (p.Pro61Ala)
c.100C>G (p.Pro34Ala)
12g.47879083G=CA2034429497VDRc.31C= (p.Pro11=)
c.181C= (p.Pro61=)
c.100C= (p.Pro34=)
12g.47879083G>TCA384515203VDRc.31C>A (p.Pro11Thr)
c.181C>A (p.Pro61Thr)
c.100C>A (p.Pro34Thr)
12g.47879084C>ACA479440262VDRc.30G>T (p.Leu10=)
c.180G>T (p.Leu60=)
c.99G>T (p.Leu33=)
12g.47879084C=CA2034429501VDRc.30G= (p.Leu10=)
c.180G= (p.Leu60=)
c.99G= (p.Leu33=)
12g.47879084C>GCA479440263VDRc.30G>C (p.Leu10=)
c.180G>C (p.Leu60=)
c.99G>C (p.Leu33=)
12g.47879084C>TCA479440264VDRc.30G>A (p.Leu10=)
c.180G>A (p.Leu60=)
c.99G>A (p.Leu33=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47879085A>CCA384515210VDRc.29T>G (p.Leu10Arg)
c.179T>G (p.Leu60Arg)
c.98T>G (p.Leu33Arg)
12g.47879085A>GCA384515213VDRc.29T>C (p.Leu10Pro)
c.179T>C (p.Leu60Pro)
c.98T>C (p.Leu33Pro)
 gnomAD v4
12g.47879085A>TCA384515212VDRc.29T>A (p.Leu10Gln)
c.179T>A (p.Leu60Gln)
c.98T>A (p.Leu33Gln)
12g.47879086G>ACA479440265VDRc.28C>T (p.Leu10=)
c.178C>T (p.Leu60=)
c.97C>T (p.Leu33=)
 gnomAD v4
12g.47879086G>CCA384515215VDRc.28C>G (p.Leu10Val)
c.178C>G (p.Leu60Val)
c.97C>G (p.Leu33Val)
12g.47879086G>TCA384515217VDRc.28C>A (p.Leu10Met)
c.178C>A (p.Leu60Met)
c.97C>A (p.Leu33Met)
12g.47879087G>ACA479440266VDRc.27C>T (p.Ser9=)
c.177C>T (p.Ser59=)
c.96C>T (p.Ser32=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.47879087G>CCA479440268VDRc.27C>G (p.Ser9=)
c.177C>G (p.Ser59=)
c.96C>G (p.Ser32=)
12g.47879087G=CA2034429506VDRc.27C= (p.Ser9=)
c.177C= (p.Ser59=)
c.96C= (p.Ser32=)
12g.47879087G>TCA479440267VDRc.27C>A (p.Ser9=)
c.177C>A (p.Ser59=)
c.96C>A (p.Ser32=)
12g.47879088G>ACA384515219VDRc.26C>T (p.Ser9Phe)
c.176C>T (p.Ser59Phe)
c.95C>T (p.Ser32Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47879088G>CCA384515221VDRc.26C>G (p.Ser9Cys)
c.176C>G (p.Ser59Cys)
c.95C>G (p.Ser32Cys)
12g.47879088G=CA2034429510VDRc.26C= (p.Ser9=)
c.176C= (p.Ser59=)
c.95C= (p.Ser32=)
12g.47879088G>TCA384515223VDRc.26C>A (p.Ser9Tyr)
c.176C>A (p.Ser59Tyr)
c.95C>A (p.Ser32Tyr)
12g.47879089A>CCA384515226VDRc.25T>G (p.Ser9Ala)
c.175T>G (p.Ser59Ala)
c.94T>G (p.Ser32Ala)
12g.47879089A>GCA384515228VDRc.25T>C (p.Ser9Pro)
c.175T>C (p.Ser59Pro)
c.94T>C (p.Ser32Pro)
12g.47879089A>TCA384515230VDRc.25T>A (p.Ser9Thr)
c.175T>A (p.Ser59Thr)
c.94T>A (p.Ser32Thr)
12g.47879090A>CCA479440269VDRc.24T>G (p.Thr8=)
c.174T>G (p.Thr58=)
c.93T>G (p.Thr31=)
12g.47879090A>GCA479440270VDRc.24T>C (p.Thr8=)
c.174T>C (p.Thr58=)
c.93T>C (p.Thr31=)
12g.47879090A>TCA479440271VDRc.24T>A (p.Thr8=)
c.174T>A (p.Thr58=)
c.93T>A (p.Thr31=)
12g.47879091G>ACA384515234VDRc.23C>T (p.Thr8Ile)
c.173C>T (p.Thr58Ile)
c.92C>T (p.Thr31Ile)
 COSMIC
12g.47879091G>CCA6534102VDRc.23C>G (p.Thr8Ser)
c.173C>G (p.Thr58Ser)
c.92C>G (p.Thr31Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879091G=CA2034429513VDRc.23C= (p.Thr8=)
c.173C= (p.Thr58=)
c.92C= (p.Thr31=)
12g.47879091G>TCA384515232VDRc.23C>A (p.Thr8Asn)
c.173C>A (p.Thr58Asn)
c.92C>A (p.Thr31Asn)
12g.47879092T>ACA384515236VDRc.22A>T (p.Thr8Ser)
c.172A>T (p.Thr58Ser)
c.91A>T (p.Thr31Ser)
12g.47879092T>CCA384515239VDRc.22A>G (p.Thr8Ala)
c.172A>G (p.Thr58Ala)
c.91A>G (p.Thr31Ala)
 dbSNP gnomAD v4
12g.47879092T>GCA6534103VDRc.22A>C (p.Thr8Pro)
c.172A>C (p.Thr58Pro)
c.91A>C (p.Thr31Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47879092T=CA2034429518VDRc.22A= (p.Thr8=)
c.172A= (p.Thr58=)
c.91A= (p.Thr31=)
12g.47879093G>ACA479440272VDRc.21C>T (p.Ser7=)
c.171C>T (p.Ser57=)
c.90C>T (p.Ser30=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47879093G>CCA384515242VDRc.21C>G (p.Ser7Arg)
c.171C>G (p.Ser57Arg)
c.90C>G (p.Ser30Arg)
12g.47879093G=CA2034429522VDRc.21C= (p.Ser7=)
c.171C= (p.Ser57=)
c.90C= (p.Ser30=)
12g.47879093G>TCA384515244VDRc.21C>A (p.Ser7Arg)
c.171C>A (p.Ser57Arg)
c.90C>A (p.Ser30Arg)
12g.47879094C>ACA384515247VDRc.20G>T (p.Ser7Ile)
c.170G>T (p.Ser57Ile)
c.89G>T (p.Ser30Ile)
12g.47879094C>GCA384515250VDRc.20G>C (p.Ser7Thr)
c.170G>C (p.Ser57Thr)
c.89G>C (p.Ser30Thr)
12g.47879094C>TCA384515248VDRc.20G>A (p.Ser7Asn)
c.170G>A (p.Ser57Asn)
c.89G>A (p.Ser30Asn)
12g.47879095T>ACA384515252VDRc.19A>T (p.Ser7Cys)
c.169A>T (p.Ser57Cys)
c.88A>T (p.Ser30Cys)
12g.47879095T>CCA384515254VDRc.19A>G (p.Ser7Gly)
c.169A>G (p.Ser57Gly)
c.88A>G (p.Ser30Gly)
 gnomAD v4
12g.47879095T>GCA384515256VDRc.19A>C (p.Ser7Arg)
c.169A>C (p.Ser57Arg)
c.88A>C (p.Ser30Arg)
12g.47879096G>ACA479440273VDRc.18C>T (p.Ala6=)
c.168C>T (p.Ala56=)
c.87C>T (p.Ala29=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47879096G>CCA6534104VDRc.18C>G (p.Ala6=)
c.168C>G (p.Ala56=)
c.87C>G (p.Ala29=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879096G=CA2034429526VDRc.18C= (p.Ala6=)
c.168C= (p.Ala56=)
c.87C= (p.Ala29=)
12g.47879096G>TCA479440274VDRc.18C>A (p.Ala6=)
c.168C>A (p.Ala56=)
c.87C>A (p.Ala29=)
12g.47879097G>ACA6534105VDRc.17C>T (p.Ala6Val)
c.167C>T (p.Ala56Val)
c.86C>T (p.Ala29Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.47879097G>CCA384515262VDRc.17C>G (p.Ala6Gly)
c.167C>G (p.Ala56Gly)
c.86C>G (p.Ala29Gly)
12g.47879097G=CA2034429529VDRc.17C= (p.Ala6=)
c.167C= (p.Ala56=)
c.86C= (p.Ala29=)
12g.47879097G>TCA384515263VDRc.17C>A (p.Ala6Asp)
c.167C>A (p.Ala56Asp)
c.86C>A (p.Ala29Asp)
12g.47879098C>ACA384515264VDRc.16G>T (p.Ala6Ser)
c.166G>T (p.Ala56Ser)
c.85G>T (p.Ala29Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.47879098C=CA2034429534VDRc.16G= (p.Ala6=)
c.166G= (p.Ala56=)
c.85G= (p.Ala29=)
12g.47879098C>GCA384515265VDRc.16G>C (p.Ala6Pro)
c.166G>C (p.Ala56Pro)
c.85G>C (p.Ala29Pro)
12g.47879098C>TCA384515266VDRc.16G>A (p.Ala6Thr)
c.166G>A (p.Ala56Thr)
c.85G>A (p.Ala29Thr)
 dbSNP gnomAD v4
12g.47879099C>ACA479440275VDRc.15G>T (p.Ala5=)
c.165G>T (p.Ala55=)
c.84G>T (p.Ala28=)
12g.47879099C=CA2034429538VDRc.15G= (p.Ala5=)
c.165G= (p.Ala55=)
c.84G= (p.Ala28=)
12g.47879099C>GCA479440276VDRc.15G>C (p.Ala5=)
c.165G>C (p.Ala55=)
c.84G>C (p.Ala28=)
12g.47879099C>TCA6534106VDRc.15G>A (p.Ala5=)
c.165G>A (p.Ala55=)
c.84G>A (p.Ala28=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879100G>ACA6534107VDRc.14C>T (p.Ala5Val)
c.164C>T (p.Ala55Val)
c.83C>T (p.Ala28Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879100G>CCA384515273VDRc.14C>G (p.Ala5Gly)
c.164C>G (p.Ala55Gly)
c.83C>G (p.Ala28Gly)
12g.47879100G=CA2034429542VDRc.14C= (p.Ala5=)
c.164C= (p.Ala55=)
c.83C= (p.Ala28=)
12g.47879100G>TCA384515271VDRc.14C>A (p.Ala5Glu)
c.164C>A (p.Ala55Glu)
c.83C>A (p.Ala28Glu)
12g.47879101C>ACA384515275VDRc.13G>T (p.Ala5Ser)
c.163G>T (p.Ala55Ser)
c.82G>T (p.Ala28Ser)
12g.47879101C=CA2034429543VDRc.13G= (p.Ala5=)
c.163G= (p.Ala55=)
c.82G= (p.Ala28=)
12g.47879101C>GCA384515278VDRc.13G>C (p.Ala5Pro)
c.163G>C (p.Ala55Pro)
c.82G>C (p.Ala28Pro)
12g.47879101C>TCA6534108VDRc.13G>A (p.Ala5Thr)
c.163G>A (p.Ala55Thr)
c.82G>A (p.Ala28Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879102C>ACA384515282VDRc.12G>T (p.Met4Ile)
c.162G>T (p.Met54Ile)
c.81G>T (p.Met27Ile)
12g.47879102C>GCA384515284VDRc.12G>C (p.Met4Ile)
c.162G>C (p.Met54Ile)
c.81G>C (p.Met27Ile)
12g.47879102C>TCA384515287VDRc.12G>A (p.Met4Ile)
c.162G>A (p.Met54Ile)
c.81G>A (p.Met27Ile)
12g.47879103A>CCA384515291VDRc.11T>G (p.Met4Arg)
c.161T>G (p.Met54Arg)
c.80T>G (p.Met27Arg)
12g.47879103A>GCA384515293VDRc.11T>C (p.Met4Thr)
c.161T>C (p.Met54Thr)
c.80T>C (p.Met27Thr)
12g.47879103A>TCA384515296VDRc.11T>A (p.Met4Lys)
c.161T>A (p.Met54Lys)
c.80T>A (p.Met27Lys)
12g.47879104T>ACA384515299VDRc.10A>T (p.Met4Leu)
c.160A>T (p.Met54Leu)
c.79A>T (p.Met27Leu)
12g.47879104T>CCA6534109VDRc.10A>G (p.Met4Val)
c.160A>G (p.Met54Val)
c.79A>G (p.Met27Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.47879104T>GCA384515303VDRc.10A>C (p.Met4Leu)
c.160A>C (p.Met54Leu)
c.79A>C (p.Met27Leu)
12g.47879104T=CA2034429545VDRc.10A= (p.Met4=)
c.160A= (p.Met54=)
c.79A= (p.Met27=)
12g.47879105T>ACA479440277VDRc.9A>T (p.Ala3=)
c.159A>T (p.Ala53=)
c.78A>T (p.Ala26=)
12g.47879105T>CCA479440278VDRc.9A>G (p.Ala3=)
c.159A>G (p.Ala53=)
c.78A>G (p.Ala26=)
12g.47879105T>GCA479440279VDRc.9A>C (p.Ala3=)
c.159A>C (p.Ala53=)
c.78A>C (p.Ala26=)
12g.47879106G>ACA384515321VDRc.8C>T (p.Ala3Val)
c.158C>T (p.Ala53Val)
c.77C>T (p.Ala26Val)
12g.47879106G>CCA384515307VDRc.8C>G (p.Ala3Gly)
c.158C>G (p.Ala53Gly)
c.77C>G (p.Ala26Gly)
12g.47879106G=CA2034429547VDRc.8C= (p.Ala3=)
c.158C= (p.Ala53=)
c.77C= (p.Ala26=)
12g.47879106G>TCA6534110VDRc.8C>A (p.Ala3Glu)
c.158C>A (p.Ala53Glu)
c.77C>A (p.Ala26Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879107C>ACA384515325VDRc.7G>T (p.Ala3Ser)
c.157G>T (p.Ala53Ser)
c.76G>T (p.Ala26Ser)
12g.47879107C=CA2034429553VDRc.7G= (p.Ala3=)
c.157G= (p.Ala53=)
c.76G= (p.Ala26=)
12g.47879107C>GCA384515328VDRc.7G>C (p.Ala3Pro)
c.157G>C (p.Ala53Pro)
c.76G>C (p.Ala26Pro)
12g.47879107C>TCA384515331VDRc.7G>A (p.Ala3Thr)
c.157G>A (p.Ala53Thr)
c.76G>A (p.Ala26Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.47879108C>ACA384515335VDRc.6G>T (p.Glu2Asp)
c.156G>T (p.Glu52Asp)
c.75G>T (p.Glu25Asp)
12g.47879108C=CA2034429559VDRc.6G= (p.Glu2=)
c.156G= (p.Glu52=)
c.75G= (p.Glu25=)
12g.47879108C>GCA384515337VDRc.6G>C (p.Glu2Asp)
c.156G>C (p.Glu52Asp)
c.75G>C (p.Glu25Asp)
12g.47879108C>TCA479440280VDRc.6G>A (p.Glu2=)
c.156G>A (p.Glu52=)
c.75G>A (p.Glu25=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47879109T>ACA384515340VDRc.5A>T (p.Glu2Val)
c.155A>T (p.Glu52Val)
c.74A>T (p.Glu25Val)
12g.47879109T>CCA384515342VDRc.5A>G (p.Glu2Gly)
c.155A>G (p.Glu52Gly)
c.74A>G (p.Glu25Gly)
12g.47879109T>GCA384515345VDRc.5A>C (p.Glu2Ala)
c.155A>C (p.Glu52Ala)
c.74A>C (p.Glu25Ala)
12g.47879110C>ACA384515347VDRc.4G>T (p.Glu2Ter)
c.154G>T (p.Glu52Ter)
c.73G>T (p.Glu25Ter)
12g.47879110C=CA2034429561VDRc.4G= (p.Glu2=)
c.154G= (p.Glu52=)
c.73G= (p.Glu25=)
12g.47879110C>GCA384515349VDRc.4G>C (p.Glu2Gln)
c.154G>C (p.Glu52Gln)
c.73G>C (p.Glu25Gln)
12g.47879110C>TCA6534111VDRc.4G>A (p.Glu2Lys)
c.154G>A (p.Glu52Lys)
c.73G>A (p.Glu25Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879111C>ACA384515354VDRc.3G>T (p.Met1Ile)
c.153G>T (p.Met51Ile)
c.72G>T (p.Met24Ile)
12g.47879111C=CA2034429566VDRc.3G= (p.Met1=)
c.153G= (p.Met51=)
c.72G= (p.Met24=)
12g.47879111C>GCA384515357VDRc.3G>C (p.Met1Ile)
c.153G>C (p.Met51Ile)
c.72G>C (p.Met24Ile)
12g.47879111C>TCA6534112VDRc.3G>A (p.Met1Ile)
c.153G>A (p.Met51Ile)
c.72G>A (p.Met24Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47879111_47879112delinsTGCA2580085458VDRc.2_3delinsCA (p.Met1Thr)
c.152_153delinsCA (p.Met51Thr)
c.71_72delinsCA (p.Met24Thr)
 ClinVar

Number of alleles fetched