Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127421393_127421395delCA535638970PROCc.181_183del (p.Glu62del)
c.364_366del (p.Glu123del)
c.244_246del (p.Glu83del)
c.424_426del (p.Glu143del)
c.265_267del (p.Glu90del)
c.157_159del (p.Glu54del)
c.175_177del (p.Glu60del)
c.146_148del (p.Gly50del)
n.264_266del
dbSNP gnomAD
2g.127421397A>CCA114402PROCc.185A>C (p.Glu62Ala)
c.368A>C (p.Glu123Ala)
c.248A>C (p.Glu83Ala)
c.428A>C (p.Glu143Ala)
c.269A>C (p.Glu90Ala)
c.161A>C (p.Glu54Ala)
c.179A>C (p.Glu60Ala)
c.150A>C (p.Gly50=)
n.268A>C
ClinVar dbSNP
2g.127421397A>GCA348398051PROCc.185A>G (p.Glu62Gly)
c.368A>G (p.Glu123Gly)
c.248A>G (p.Glu83Gly)
c.428A>G (p.Glu143Gly)
c.269A>G (p.Glu90Gly)
c.161A>G (p.Glu54Gly)
c.179A>G (p.Glu60Gly)
c.150A>G (p.Gly50=)
n.268A>G
2g.127421397A>TCA348398053PROCc.185A>T (p.Glu62Val)
c.368A>T (p.Glu123Val)
c.248A>T (p.Glu83Val)
c.428A>T (p.Glu143Val)
c.269A>T (p.Glu90Val)
c.161A>T (p.Glu54Val)
c.179A>T (p.Glu60Val)
c.150A>T (p.Gly50=)
n.268A>T
2g.127421398G>ACA428617446PROCc.186G>A (p.Glu62=)
c.369G>A (p.Glu123=)
c.249G>A (p.Glu83=)
c.429G>A (p.Glu143=)
c.270G>A (p.Glu90=)
c.162G>A (p.Glu54=)
c.180G>A (p.Glu60=)
c.151G>A (p.Asp51Asn)
n.269G>A
2g.127421398G>CCA348398059PROCc.186G>C (p.Glu62Asp)
c.369G>C (p.Glu123Asp)
c.249G>C (p.Glu83Asp)
c.429G>C (p.Glu143Asp)
c.270G>C (p.Glu90Asp)
c.162G>C (p.Glu54Asp)
c.180G>C (p.Glu60Asp)
c.151G>C (p.Asp51His)
n.269G>C
2g.127421398G>TCA348398061PROCc.186G>T (p.Glu62Asp)
c.369G>T (p.Glu123Asp)
c.249G>T (p.Glu83Asp)
c.429G>T (p.Glu143Asp)
c.270G>T (p.Glu90Asp)
c.162G>T (p.Glu54Asp)
c.180G>T (p.Glu60Asp)
c.151G>T (p.Asp51Tyr)
n.269G>T
2g.127421399A>CCA348398067PROCc.187A>C (p.Ile63Leu)
c.370A>C (p.Ile124Leu)
c.250A>C (p.Ile84Leu)
c.430A>C (p.Ile144Leu)
c.271A>C (p.Ile91Leu)
c.163A>C (p.Ile55Leu)
c.181A>C (p.Ile61Leu)
c.152A>C (p.Asp51Ala)
n.270A>C
2g.127421399A>GCA348398070PROCc.187A>G (p.Ile63Val)
c.370A>G (p.Ile124Val)
c.250A>G (p.Ile84Val)
c.430A>G (p.Ile144Val)
c.271A>G (p.Ile91Val)
c.163A>G (p.Ile55Val)
c.181A>G (p.Ile61Val)
c.152A>G (p.Asp51Gly)
n.270A>G
2g.127421399A>TCA348398071PROCc.187A>T (p.Ile63Phe)
c.370A>T (p.Ile124Phe)
c.250A>T (p.Ile84Phe)
c.430A>T (p.Ile144Phe)
c.271A>T (p.Ile91Phe)
c.163A>T (p.Ile55Phe)
c.181A>T (p.Ile61Phe)
c.152A>T (p.Asp51Val)
n.270A>T
2g.127421400T>ACA348398072PROCc.188T>A (p.Ile63Asn)
c.371T>A (p.Ile124Asn)
c.251T>A (p.Ile84Asn)
c.431T>A (p.Ile144Asn)
c.272T>A (p.Ile91Asn)
c.164T>A (p.Ile55Asn)
c.182T>A (p.Ile61Asn)
c.153T>A (p.Asp51Glu)
n.271T>A
2g.127421400T>CCA348398073PROCc.188T>C (p.Ile63Thr)
c.371T>C (p.Ile124Thr)
c.251T>C (p.Ile84Thr)
c.431T>C (p.Ile144Thr)
c.272T>C (p.Ile91Thr)
c.164T>C (p.Ile55Thr)
c.182T>C (p.Ile61Thr)
c.153T>C (p.Asp51=)
n.271T>C
2g.127421400T>GCA348398074PROCc.188T>G (p.Ile63Ser)
c.371T>G (p.Ile124Ser)
c.251T>G (p.Ile84Ser)
c.431T>G (p.Ile144Ser)
c.272T>G (p.Ile91Ser)
c.164T>G (p.Ile55Ser)
c.182T>G (p.Ile61Ser)
c.153T>G (p.Asp51Glu)
n.271T>G
2g.127421401C>ACA428617448PROCc.189C>A (p.Ile63=)
c.372C>A (p.Ile124=)
c.252C>A (p.Ile84=)
c.432C>A (p.Ile144=)
c.273C>A (p.Ile91=)
c.165C>A (p.Ile55=)
c.183C>A (p.Ile61=)
c.154C>A (p.Leu52Met)
n.272C>A
2g.127421401C>GCA348398077PROCc.189C>G (p.Ile63Met)
c.372C>G (p.Ile124Met)
c.252C>G (p.Ile84Met)
c.432C>G (p.Ile144Met)
c.273C>G (p.Ile91Met)
c.165C>G (p.Ile55Met)
c.183C>G (p.Ile61Met)
c.154C>G (p.Leu52Val)
n.272C>G
2g.127421401C>TCA428617447PROCc.189C>T (p.Ile63=)
c.372C>T (p.Ile124=)
c.252C>T (p.Ile84=)
c.432C>T (p.Ile144=)
c.273C>T (p.Ile91=)
c.165C>T (p.Ile55=)
c.183C>T (p.Ile61=)
c.154C>T (p.Leu52=)
n.272C>T
2g.127421402T>ACA348398083PROCc.190T>A (p.Cys64Ser)
c.373T>A (p.Cys125Ser)
c.253T>A (p.Cys85Ser)
c.433T>A (p.Cys145Ser)
c.274T>A (p.Cys92Ser)
c.166T>A (p.Cys56Ser)
c.184T>A (p.Cys62Ser)
c.155T>A (p.Leu52Gln)
n.273T>A
2g.127421402T>CCA348398081PROCc.190T>C (p.Cys64Arg)
c.373T>C (p.Cys125Arg)
c.253T>C (p.Cys85Arg)
c.433T>C (p.Cys145Arg)
c.274T>C (p.Cys92Arg)
c.166T>C (p.Cys56Arg)
c.184T>C (p.Cys62Arg)
c.155T>C (p.Leu52Pro)
n.273T>C
2g.127421402T>GCA348398079PROCc.190T>G (p.Cys64Gly)
c.373T>G (p.Cys125Gly)
c.253T>G (p.Cys85Gly)
c.433T>G (p.Cys145Gly)
c.274T>G (p.Cys92Gly)
c.166T>G (p.Cys56Gly)
c.184T>G (p.Cys62Gly)
c.155T>G (p.Leu52Arg)
n.273T>G
2g.127421403G>ACA348398086PROCc.191G>A (p.Cys64Tyr)
c.374G>A (p.Cys125Tyr)
c.254G>A (p.Cys85Tyr)
c.434G>A (p.Cys145Tyr)
c.275G>A (p.Cys92Tyr)
c.167G>A (p.Cys56Tyr)
c.185G>A (p.Cys62Tyr)
c.156G>A (p.Leu52=)
n.274G>A
2g.127421403G>CCA348398089PROCc.191G>C (p.Cys64Ser)
c.374G>C (p.Cys125Ser)
c.254G>C (p.Cys85Ser)
c.434G>C (p.Cys145Ser)
c.275G>C (p.Cys92Ser)
c.167G>C (p.Cys56Ser)
c.185G>C (p.Cys62Ser)
c.156G>C (p.Leu52=)
n.274G>C
2g.127421403G>TCA348398091PROCc.191G>T (p.Cys64Phe)
c.374G>T (p.Cys125Phe)
c.254G>T (p.Cys85Phe)
c.434G>T (p.Cys145Phe)
c.275G>T (p.Cys92Phe)
c.167G>T (p.Cys56Phe)
c.185G>T (p.Cys62Phe)
c.156G>T (p.Leu52=)
n.274G>T
2g.127421404T>ACA348398093PROCc.192T>A (p.Cys64Ter)
c.375T>A (p.Cys125Ter)
c.255T>A (p.Cys85Ter)
c.435T>A (p.Cys145Ter)
c.276T>A (p.Cys92Ter)
c.168T>A (p.Cys56Ter)
c.186T>A (p.Cys62Ter)
c.157T>A (p.Ter53Arg)
n.275T>A
2g.127421404T>CCA428617449PROCc.192T>C (p.Cys64=)
c.375T>C (p.Cys125=)
c.255T>C (p.Cys85=)
c.435T>C (p.Cys145=)
c.276T>C (p.Cys92=)
c.168T>C (p.Cys56=)
c.186T>C (p.Cys62=)
c.157T>C (p.Ter53Arg)
n.275T>C
2g.127421404T>GCA348398096PROCc.192T>G (p.Cys64Trp)
c.375T>G (p.Cys125Trp)
c.255T>G (p.Cys85Trp)
c.435T>G (p.Cys145Trp)
c.276T>G (p.Cys92Trp)
c.168T>G (p.Cys56Trp)
c.186T>G (p.Cys62Trp)
c.157T>G (p.Ter53Gly)
n.275T>G
2g.127421405G>ACA348398099PROCc.193G>A (p.Asp65Asn)
c.376G>A (p.Asp126Asn)
c.256G>A (p.Asp86Asn)
c.436G>A (p.Asp146Asn)
c.277G>A (p.Asp93Asn)
c.169G>A (p.Asp57Asn)
c.187G>A (p.Asp63Asn)
c.158G>A (p.Ter53=)
n.276G>A
gnomAD
2g.127421405G>CCA348398100PROCc.193G>C (p.Asp65His)
c.376G>C (p.Asp126His)
c.256G>C (p.Asp86His)
c.436G>C (p.Asp146His)
c.277G>C (p.Asp93His)
c.169G>C (p.Asp57His)
c.187G>C (p.Asp63His)
c.158G>C (p.Ter53Ser)
n.276G>C
2g.127421405G>TCA348398103PROCc.193G>T (p.Asp65Tyr)
c.376G>T (p.Asp126Tyr)
c.256G>T (p.Asp86Tyr)
c.436G>T (p.Asp146Tyr)
c.277G>T (p.Asp93Tyr)
c.169G>T (p.Asp57Tyr)
c.187G>T (p.Asp63Tyr)
c.158G>T (p.Ter53Leu)
n.276G>T
2g.127421406A>CCA348398105PROCc.194A>C (p.Asp65Ala)
c.377A>C (p.Asp126Ala)
c.257A>C (p.Asp86Ala)
c.437A>C (p.Asp146Ala)
c.278A>C (p.Asp93Ala)
c.170A>C (p.Asp57Ala)
c.188A>C (p.Asp63Ala)
c.159A>C (p.Ter53Cys)
n.277A>C
2g.127421406A>GCA348398108PROCc.194A>G (p.Asp65Gly)
c.377A>G (p.Asp126Gly)
c.257A>G (p.Asp86Gly)
c.437A>G (p.Asp146Gly)
c.278A>G (p.Asp93Gly)
c.170A>G (p.Asp57Gly)
c.188A>G (p.Asp63Gly)
c.159A>G (p.Ter53Trp)
n.277A>G
2g.127421406A>TCA348398110PROCc.194A>T (p.Asp65Val)
c.377A>T (p.Asp126Val)
c.257A>T (p.Asp86Val)
c.437A>T (p.Asp146Val)
c.278A>T (p.Asp93Val)
c.170A>T (p.Asp57Val)
c.188A>T (p.Asp63Val)
c.159A>T (p.Ter53Cys)
n.277A>T
2g.127421407C>ACA348398111PROCc.195C>A (p.Asp65Glu)
c.378C>A (p.Asp126Glu)
c.258C>A (p.Asp86Glu)
c.438C>A (p.Asp146Glu)
c.279C>A (p.Asp93Glu)
c.171C>A (p.Asp57Glu)
c.189C>A (p.Asp63Glu)
c.*1C>A
n.278C>A
2g.127421407C>GCA348398112PROCc.195C>G (p.Asp65Glu)
c.378C>G (p.Asp126Glu)
c.258C>G (p.Asp86Glu)
c.438C>G (p.Asp146Glu)
c.279C>G (p.Asp93Glu)
c.171C>G (p.Asp57Glu)
c.189C>G (p.Asp63Glu)
c.*1C>G
n.278C>G
2g.127421407C>TCA55343019PROCc.195C>T (p.Asp65=)
c.378C>T (p.Asp126=)
c.258C>T (p.Asp86=)
c.438C>T (p.Asp146=)
c.279C>T (p.Asp93=)
c.171C>T (p.Asp57=)
c.189C>T (p.Asp63=)
c.*1C>T
n.278C>T
dbSNP
2g.127421408T>ACA348398114PROCc.196T>A (p.Phe66Ile)
c.379T>A (p.Phe127Ile)
c.259T>A (p.Phe87Ile)
c.439T>A (p.Phe147Ile)
c.280T>A (p.Phe94Ile)
c.172T>A (p.Phe58Ile)
c.190T>A (p.Phe64Ile)
c.*2T>A
n.279T>A
2g.127421408T>CCA348398115PROCc.196T>C (p.Phe66Leu)
c.379T>C (p.Phe127Leu)
c.259T>C (p.Phe87Leu)
c.439T>C (p.Phe147Leu)
c.280T>C (p.Phe94Leu)
c.172T>C (p.Phe58Leu)
c.190T>C (p.Phe64Leu)
c.*2T>C
n.279T>C
2g.127421408T>GCA348398113PROCc.196T>G (p.Phe66Val)
c.379T>G (p.Phe127Val)
c.259T>G (p.Phe87Val)
c.439T>G (p.Phe147Val)
c.280T>G (p.Phe94Val)
c.172T>G (p.Phe58Val)
c.190T>G (p.Phe64Val)
c.*2T>G
n.279T>G
2g.127421409T>ACA348398116PROCc.197T>A (p.Phe66Tyr)
c.380T>A (p.Phe127Tyr)
c.260T>A (p.Phe87Tyr)
c.440T>A (p.Phe147Tyr)
c.281T>A (p.Phe94Tyr)
c.173T>A (p.Phe58Tyr)
c.191T>A (p.Phe64Tyr)
c.*3T>A
n.280T>A
2g.127421409T>CCA348398117PROCc.197T>C (p.Phe66Ser)
c.380T>C (p.Phe127Ser)
c.260T>C (p.Phe87Ser)
c.440T>C (p.Phe147Ser)
c.281T>C (p.Phe94Ser)
c.173T>C (p.Phe58Ser)
c.191T>C (p.Phe64Ser)
c.*3T>C
n.280T>C
2g.127421409T>GCA348398118PROCc.197T>G (p.Phe66Cys)
c.380T>G (p.Phe127Cys)
c.260T>G (p.Phe87Cys)
c.440T>G (p.Phe147Cys)
c.281T>G (p.Phe94Cys)
c.173T>G (p.Phe58Cys)
c.191T>G (p.Phe64Cys)
c.*3T>G
n.280T>G
2g.127421410C>ACA348398119PROCc.198C>A (p.Phe66Leu)
c.381C>A (p.Phe127Leu)
c.261C>A (p.Phe87Leu)
c.441C>A (p.Phe147Leu)
c.282C>A (p.Phe94Leu)
c.174C>A (p.Phe58Leu)
c.192C>A (p.Phe64Leu)
c.*4C>A (p.=)
n.281C>A
2g.127421410C>GCA1859253PROCc.198C>G (p.Phe66Leu)
c.381C>G (p.Phe127Leu)
c.261C>G (p.Phe87Leu)
c.441C>G (p.Phe147Leu)
c.282C>G (p.Phe94Leu)
c.174C>G (p.Phe58Leu)
c.192C>G (p.Phe64Leu)
c.*4C>G (p.=)
n.281C>G
dbSNP ExAC gnomAD
2g.127421410C>TCA1859252PROCc.198C>T (p.Phe66=)
c.381C>T (p.Phe127=)
c.261C>T (p.Phe87=)
c.441C>T (p.Phe147=)
c.282C>T (p.Phe94=)
c.174C>T (p.Phe58=)
c.192C>T (p.Phe64=)
c.*4C>T (p.=)
n.281C>T
dbSNP ExAC gnomAD
2g.127421411G>ACA348398122PROCc.199G>A (p.Glu67Lys)
c.382G>A (p.Glu128Lys)
c.262G>A (p.Glu88Lys)
c.442G>A (p.Glu148Lys)
c.283G>A (p.Glu95Lys)
c.175G>A (p.Glu59Lys)
c.193G>A (p.Glu65Lys)
c.*5G>A (p.=)
n.282G>A
ClinVar
2g.127421411G>CCA348398120PROCc.199G>C (p.Glu67Gln)
c.382G>C (p.Glu128Gln)
c.262G>C (p.Glu88Gln)
c.442G>C (p.Glu148Gln)
c.283G>C (p.Glu95Gln)
c.175G>C (p.Glu59Gln)
c.193G>C (p.Glu65Gln)
c.*5G>C (p.=)
n.282G>C
2g.127421411G>TCA348398121PROCc.199G>T (p.Glu67Ter)
c.382G>T (p.Glu128Ter)
c.262G>T (p.Glu88Ter)
c.442G>T (p.Glu148Ter)
c.283G>T (p.Glu95Ter)
c.175G>T (p.Glu59Ter)
c.193G>T (p.Glu65Ter)
c.*5G>T (p.=)
n.282G>T
2g.127421412A>CCA348398123PROCc.200A>C (p.Glu67Ala)
c.383A>C (p.Glu128Ala)
c.263A>C (p.Glu88Ala)
c.443A>C (p.Glu148Ala)
c.284A>C (p.Glu95Ala)
c.176A>C (p.Glu59Ala)
c.194A>C (p.Glu65Ala)
c.*6A>C (p.=)
n.283A>C
2g.127421412A>GCA348398124PROCc.200A>G (p.Glu67Gly)
c.383A>G (p.Glu128Gly)
c.263A>G (p.Glu88Gly)
c.443A>G (p.Glu148Gly)
c.284A>G (p.Glu95Gly)
c.176A>G (p.Glu59Gly)
c.194A>G (p.Glu65Gly)
c.*6A>G (p.=)
n.283A>G
2g.127421412A>TCA348398125PROCc.200A>T (p.Glu67Val)
c.383A>T (p.Glu128Val)
c.263A>T (p.Glu88Val)
c.443A>T (p.Glu148Val)
c.284A>T (p.Glu95Val)
c.176A>T (p.Glu59Val)
c.194A>T (p.Glu65Val)
c.*6A>T (p.=)
n.283A>T
2g.127421413G>ACA428617450PROCc.201G>A (p.Glu67=)
c.384G>A (p.Glu128=)
c.264G>A (p.Glu88=)
c.444G>A (p.Glu148=)
c.285G>A (p.Glu95=)
c.177G>A (p.Glu59=)
c.195G>A (p.Glu65=)
c.*7G>A (p.=)
n.284G>A

Number of alleles fetched