Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6974427A=CA2014342576EMG1c.257A= (p.Asp86=)
c.239A= (p.Asp80=)
c.120A=
c.260A= (p.Asp87=)
n.268A=
n.246A=
n.400A=
12g.6974427A>CCA383683056EMG1c.257A>C (p.Asp86Ala)
c.239A>C (p.Asp80Ala)
c.120A>C
c.260A>C (p.Asp87Ala)
n.268A>C
n.246A>C
n.400A>C
12g.6974427A>GCA114613EMG1c.257A>G (p.Asp86Gly)
c.239A>G (p.Asp80Gly)
c.120A>G
c.260A>G (p.Asp87Gly)
n.268A>G
n.246A>G
n.400A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6974427A>TCA383683064EMG1c.257A>T (p.Asp86Val)
c.239A>T (p.Asp80Val)
c.120A>T
c.260A>T (p.Asp87Val)
n.268A>T
n.246A>T
n.400A>T
12g.6974428T>ACA383683068EMG1c.258T>A (p.Asp86Glu)
c.240T>A (p.Asp80Glu)
c.121T>A
c.261T>A (p.Asp87Glu)
n.269T>A
n.247T>A
n.401T>A
12g.6974428T>CCA6422687EMG1c.258T>C (p.Asp86=)
c.240T>C (p.Asp80=)
c.121T>C
c.261T>C (p.Asp87=)
n.269T>C
n.247T>C
n.401T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.6974428T>GCA383683069EMG1c.258T>G (p.Asp86Glu)
c.240T>G (p.Asp80Glu)
c.121T>G
c.261T>G (p.Asp87Glu)
n.269T>G
n.247T>G
n.401T>G
12g.6974428T=CA2014342577EMG1c.258T= (p.Asp86=)
c.240T= (p.Asp80=)
c.121T=
c.261T= (p.Asp87=)
n.269T=
n.247T=
n.401T=
12g.6974429A>CCA383683070EMG1c.259A>C (p.Ile87Leu)
c.241A>C (p.Ile81Leu)
c.122A>C
c.262A>C (p.Ile88Leu)
n.270A>C
n.248A>C
n.402A>C
12g.6974429A>GCA383683071EMG1c.259A>G (p.Ile87Val)
c.241A>G (p.Ile81Val)
c.122A>G
c.262A>G (p.Ile88Val)
n.270A>G
n.248A>G
n.402A>G
12g.6974429A>TCA383683074EMG1c.259A>T (p.Ile87Phe)
c.241A>T (p.Ile81Phe)
c.122A>T
c.262A>T (p.Ile88Phe)
n.270A>T
n.248A>T
n.402A>T
12g.6974430T>ACA383683080EMG1c.260T>A (p.Ile87Asn)
c.242T>A (p.Ile81Asn)
c.123T>A
c.263T>A (p.Ile88Asn)
n.271T>A
n.249T>A
n.403T>A
12g.6974430T>CCA6422688EMG1c.260T>C (p.Ile87Thr)
c.242T>C (p.Ile81Thr)
c.123T>C
c.263T>C (p.Ile88Thr)
n.271T>C
n.249T>C
n.403T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6974430T>GCA383683078EMG1c.260T>G (p.Ile87Ser)
c.242T>G (p.Ile81Ser)
c.123T>G
c.263T>G (p.Ile88Ser)
n.271T>G
n.249T>G
n.403T>G
12g.6974430T=CA2014342578EMG1c.260T= (p.Ile87=)
c.242T= (p.Ile81=)
c.123T=
c.263T= (p.Ile88=)
n.271T=
n.249T=
n.403T=
12g.6974431C>ACA478521229EMG1c.261C>A (p.Ile87=)
c.243C>A (p.Ile81=)
c.124C>A
c.264C>A (p.Ile88=)
n.272C>A
n.250C>A
n.404C>A
12g.6974431C>GCA383683086EMG1c.261C>G (p.Ile87Met)
c.243C>G (p.Ile81Met)
c.124C>G
c.264C>G (p.Ile88Met)
n.272C>G
n.250C>G
n.404C>G
12g.6974431C>TCA478521230EMG1c.261C>T (p.Ile87=)
c.243C>T (p.Ile81=)
c.124C>T
c.264C>T (p.Ile88=)
n.272C>T
n.250C>T
n.404C>T
gnomAD v4
12g.6974432A=CA2014342579EMG1c.262A= (p.Thr88=)
c.244A= (p.Thr82=)
c.125A=
c.265A= (p.Thr89=)
n.273A=
n.251A=
n.405A=
12g.6974432A>CCA383683090EMG1c.262A>C (p.Thr88Pro)
c.244A>C (p.Thr82Pro)
c.125A>C
c.265A>C (p.Thr89Pro)
n.273A>C
n.251A>C
n.405A>C
12g.6974432A>GCA6422689EMG1c.262A>G (p.Thr88Ala)
c.244A>G (p.Thr82Ala)
c.125A>G
c.265A>G (p.Thr89Ala)
n.273A>G
n.251A>G
n.405A>G
dbSNP ExAC gnomAD v2
12g.6974432A>TCA383683102EMG1c.262A>T (p.Thr88Ser)
c.244A>T (p.Thr82Ser)
c.125A>T
c.265A>T (p.Thr89Ser)
n.273A>T
n.251A>T
n.405A>T
12g.6974433C>ACA383683108EMG1c.263C>A (p.Thr88Asn)
c.245C>A (p.Thr82Asn)
c.126C>A
c.266C>A (p.Thr89Asn)
n.274C>A
n.252C>A
n.406C>A
12g.6974433C>GCA383683113EMG1c.263C>G (p.Thr88Ser)
c.245C>G (p.Thr82Ser)
c.126C>G
c.266C>G (p.Thr89Ser)
n.274C>G
n.252C>G
n.406C>G
12g.6974433C>TCA383683116EMG1c.263C>T (p.Thr88Ile)
c.245C>T (p.Thr82Ile)
c.126C>T
c.266C>T (p.Thr89Ile)
n.274C>T
n.252C>T
n.406C>T
12g.6974434C>ACA478521231EMG1c.264C>A (p.Thr88=)
c.246C>A (p.Thr82=)
c.127C>A
c.267C>A (p.Thr89=)
n.275C>A
n.253C>A
n.407C>A
12g.6974434C=CA2014342580EMG1c.264C= (p.Thr88=)
c.246C= (p.Thr82=)
c.127C=
c.267C= (p.Thr89=)
n.275C=
n.253C=
n.407C=
12g.6974434C>GCA232443827EMG1c.264C>G (p.Thr88=)
c.246C>G (p.Thr82=)
c.127C>G
c.267C>G (p.Thr89=)
n.275C>G
n.253C>G
n.407C>G
dbSNP gnomAD v4
12g.6974434C>TCA6422690EMG1c.264C>T (p.Thr88=)
c.246C>T (p.Thr82=)
c.127C>T
c.267C>T (p.Thr89=)
n.275C>T
n.253C>T
n.407C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6974435C>ACA383683133EMG1c.265C>A (p.His89Asn)
c.247C>A (p.His83Asn)
c.128C>A
c.268C>A (p.His90Asn)
n.276C>A
n.254C>A
n.408C>A
12g.6974435C=CA2014342581EMG1c.265C= (p.His89=)
c.247C= (p.His83=)
c.128C=
c.268C= (p.His90=)
n.276C=
n.254C=
n.408C=
12g.6974435C>GCA383683134EMG1c.265C>G (p.His89Asp)
c.247C>G (p.His83Asp)
c.128C>G
c.268C>G (p.His90Asp)
n.276C>G
n.254C>G
n.408C>G
12g.6974435C>TCA383683137EMG1c.265C>T (p.His89Tyr)
c.247C>T (p.His83Tyr)
c.128C>T
c.268C>T (p.His90Tyr)
n.276C>T
n.254C>T
n.408C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6974436A>CCA383683141EMG1c.266A>C (p.His89Pro)
c.248A>C (p.His83Pro)
c.129A>C
c.269A>C (p.His90Pro)
n.277A>C
n.255A>C
n.409A>C
12g.6974436A>GCA383683149EMG1c.266A>G (p.His89Arg)
c.248A>G (p.His83Arg)
c.129A>G
c.269A>G (p.His90Arg)
n.277A>G
n.255A>G
n.409A>G
gnomAD v4
12g.6974436A>TCA383683151EMG1c.266A>T (p.His89Leu)
c.248A>T (p.His83Leu)
c.129A>T
c.269A>T (p.His90Leu)
n.277A>T
n.255A>T
n.409A>T
12g.6974437C>ACA383683159EMG1c.267C>A (p.His89Gln)
c.249C>A (p.His83Gln)
c.130C>A
c.270C>A (p.His90Gln)
n.278C>A
n.256C>A
n.410C>A
12g.6974437C>GCA383683162EMG1c.267C>G (p.His89Gln)
c.249C>G (p.His83Gln)
c.130C>G
c.270C>G (p.His90Gln)
n.278C>G
n.256C>G
n.410C>G
gnomAD v4
12g.6974437C>TCA478521234EMG1c.267C>T (p.His89=)
c.249C>T (p.His83=)
c.130C>T
c.270C>T (p.His90=)
n.278C>T
n.256C>T
n.410C>T
gnomAD v4
12g.6974438C>ACA383683170EMG1c.268C>A (p.Gln90Lys)
c.250C>A (p.Gln84Lys)
c.131C>A
c.271C>A (p.Gln91Lys)
n.279C>A
n.257C>A
n.411C>A
12g.6974438C=CA2014342582EMG1c.268C= (p.Gln90=)
c.250C= (p.Gln84=)
c.131C=
c.271C= (p.Gln91=)
n.279C=
n.257C=
n.411C=
12g.6974438C>GCA6422691EMG1c.268C>G (p.Gln90Glu)
c.250C>G (p.Gln84Glu)
c.131C>G
c.271C>G (p.Gln91Glu)
n.279C>G
n.257C>G
n.411C>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6974438C>TCA383683167EMG1c.268C>T (p.Gln90Ter)
c.250C>T (p.Gln84Ter)
c.131C>T
c.271C>T (p.Gln91Ter)
n.279C>T
n.257C>T
n.411C>T
12g.6974441_6974551delCA2617379555EMG1c.270+1_271-1del
c.252+1_253-1del
c.133+1_134-1del
c.273+1_274-1del
n.281+1_282-1del
n.260_370del
n.413+1_414-1del
gnomAD v4
12g.6974439A>CCA383683171EMG1c.269A>C (p.Gln90Pro)
c.251A>C (p.Gln84Pro)
c.132A>C
c.272A>C (p.Gln91Pro)
n.280A>C
n.258A>C
n.412A>C
12g.6974439A>GCA383683172EMG1c.269A>G (p.Gln90Arg)
c.251A>G (p.Gln84Arg)
c.132A>G
c.272A>G (p.Gln91Arg)
n.280A>G
n.258A>G
n.412A>G
12g.6974439A>TCA383683173EMG1c.269A>T (p.Gln90Leu)
c.251A>T (p.Gln84Leu)
c.132A>T
c.272A>T (p.Gln91Leu)
n.280A>T
n.258A>T
n.412A>T
12g.6974440G>ACA478521235EMG1c.270G>A (p.Gln90=)
c.252G>A (p.Gln84=)
c.133G>A
c.273G>A (p.Gln91=)
n.281G>A
n.259G>A
n.413G>A
12g.6974440G>CCA383683175EMG1c.270G>C (p.Gln90His)
c.252G>C (p.Gln84His)
c.133G>C
c.273G>C (p.Gln91His)
n.281G>C
n.259G>C
n.413G>C
12g.6974440G>TCA383683176EMG1c.270G>T (p.Gln90His)
c.252G>T (p.Gln84His)
c.133G>T
c.273G>T (p.Gln91His)
n.281G>T
n.259G>T
n.413G>T

Number of alleles fetched