Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121160202G>ACA383028452TBCEL-TECTA,TECTAc.4757G>A (p.Gly1586Glu)
c.2064G>A
n.693G>A
c.5714G>A (p.Gly1905Glu)
11g.121160202G>CCA383028453TBCEL-TECTA,TECTAc.4757G>C (p.Gly1586Ala)
c.2064G>C
n.693G>C
c.5714G>C (p.Gly1905Ala)
11g.121160202G>TCA383028449TBCEL-TECTA,TECTAc.4757G>T (p.Gly1586Val)
c.2064G>T
n.693G>T
c.5714G>T (p.Gly1905Val)
11g.121160203G>ACA477383193TBCEL-TECTA,TECTAc.4758G>A (p.Gly1586=)
c.2065G>A
n.694G>A
c.5715G>A (p.Gly1905=)
11g.121160203G>CCA477383194TBCEL-TECTA,TECTAc.4758G>C (p.Gly1586=)
c.2065G>C
n.694G>C
c.5715G>C (p.Gly1905=)
11g.121160203G>TCA477383195TBCEL-TECTA,TECTAc.4758G>T (p.Gly1586=)
c.2065G>T
n.694G>T
c.5715G>T (p.Gly1905=)
gnomAD v4
11g.121160204T>ACA383028455TBCEL-TECTA,TECTAc.4759T>A (p.Phe1587Ile)
c.2066T>A
n.695T>A
c.5716T>A (p.Phe1906Ile)
gnomAD v4
11g.121160204T>CCA383028457TBCEL-TECTA,TECTAc.4759T>C (p.Phe1587Leu)
c.2066T>C
n.695T>C
c.5716T>C (p.Phe1906Leu)
11g.121160204T>GCA383028459TBCEL-TECTA,TECTAc.4759T>G (p.Phe1587Val)
c.2066T>G
n.695T>G
c.5716T>G (p.Phe1906Val)
11g.121160205T>ACA383028463TBCEL-TECTA,TECTAc.4760T>A (p.Phe1587Tyr)
c.2067T>A
n.696T>A
c.5717T>A (p.Phe1906Tyr)
11g.121160205T>CCA383028465TBCEL-TECTA,TECTAc.4760T>C (p.Phe1587Ser)
c.2067T>C
n.696T>C
c.5717T>C (p.Phe1906Ser)
11g.121160205T>GCA383028467TBCEL-TECTA,TECTAc.4760T>G (p.Phe1587Cys)
c.2067T>G
n.696T>G
c.5717T>G (p.Phe1906Cys)
11g.121160206T>ACA383028468TBCEL-TECTA,TECTAc.4761T>A (p.Phe1587Leu)
c.2068T>A
n.697T>A
c.5718T>A (p.Phe1906Leu)
11g.121160206T>CCA229846045TBCEL-TECTA,TECTAc.4761T>C (p.Phe1587=)
c.2068T>C
n.697T>C
c.5718T>C (p.Phe1906=)
dbSNP
11g.121160206T>GCA383028470TBCEL-TECTA,TECTAc.4761T>G (p.Phe1587Leu)
c.2068T>G
n.697T>G
c.5718T>G (p.Phe1906Leu)
11g.121160206T=CA2004739190TBCEL-TECTA,TECTAc.4761T= (p.Phe1587=)
c.2068T=
n.697T=
c.5718T= (p.Phe1906=)
11g.121160207C>ACA383028474TBCEL-TECTA,TECTAc.4762C>A (p.Leu1588Met)
c.2069C>A
n.698C>A
c.5719C>A (p.Leu1907Met)
11g.121160207C>GCA383028476TBCEL-TECTA,TECTAc.4762C>G (p.Leu1588Val)
c.2069C>G
n.698C>G
c.5719C>G (p.Leu1907Val)
11g.121160207C>TCA477383196TBCEL-TECTA,TECTAc.4762C>T (p.Leu1588=)
c.2069C>T
n.698C>T
c.5719C>T (p.Leu1907=)
11g.121160208T>ACA383028481TBCEL-TECTA,TECTAc.4763T>A (p.Leu1588Gln)
c.2070T>A
n.699T>A
c.5720T>A (p.Leu1907Gln)
11g.121160208T>CCA383028482TBCEL-TECTA,TECTAc.4763T>C (p.Leu1588Pro)
c.2070T>C
n.699T>C
c.5720T>C (p.Leu1907Pro)
11g.121160208T>GCA383028486TBCEL-TECTA,TECTAc.4763T>G (p.Leu1588Arg)
c.2070T>G
n.699T>G
c.5720T>G (p.Leu1907Arg)
11g.121160209G>ACA477383198TBCEL-TECTA,TECTAc.4764G>A (p.Leu1588=)
c.2071G>A
n.700G>A
c.5721G>A (p.Leu1907=)
gnomAD v4
11g.121160209G>CCA6327557TBCEL-TECTA,TECTAc.4764G>C (p.Leu1588=)
c.2071G>C
n.700G>C
c.5721G>C (p.Leu1907=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160209G=CA2004739192TBCEL-TECTA,TECTAc.4764G= (p.Leu1588=)
c.2071G=
n.700G=
c.5721G= (p.Leu1907=)
11g.121160209G>TCA477383199TBCEL-TECTA,TECTAc.4764G>T (p.Leu1588=)
c.2071G>T
n.700G>T
c.5721G>T (p.Leu1907=)
11g.121160210G>ACA383028508TBCEL-TECTA,TECTAc.4765G>A (p.Val1589Met)
c.2072G>A
n.701G>A
c.5722G>A (p.Val1908Met)
dbSNP gnomAD v2 gnomAD v4
11g.121160210G>CCA383028494TBCEL-TECTA,TECTAc.4765G>C (p.Val1589Leu)
c.2072G>C
n.701G>C
c.5722G>C (p.Val1908Leu)
dbSNP gnomAD v4
11g.121160210G=CA2004739195TBCEL-TECTA,TECTAc.4765G= (p.Val1589=)
c.2072G=
n.701G=
c.5722G= (p.Val1908=)
11g.121160210G>TCA383028492TBCEL-TECTA,TECTAc.4765G>T (p.Val1589Leu)
c.2072G>T
n.701G>T
c.5722G>T (p.Val1908Leu)
11g.121160211T>ACA383028510TBCEL-TECTA,TECTAc.4766T>A (p.Val1589Glu)
c.2073T>A
n.702T>A
c.5723T>A (p.Val1908Glu)
11g.121160211T>CCA383028512TBCEL-TECTA,TECTAc.4766T>C (p.Val1589Ala)
c.2073T>C
n.702T>C
c.5723T>C (p.Val1908Ala)
11g.121160211T>GCA383028533TBCEL-TECTA,TECTAc.4766T>G (p.Val1589Gly)
c.2073T>G
n.702T>G
c.5723T>G (p.Val1908Gly)
11g.121160212G>ACA6327558TBCEL-TECTA,TECTAc.4767G>A (p.Val1589=)
c.2074G>A
n.703G>A
c.5724G>A (p.Val1908=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160212G>CCA477383200TBCEL-TECTA,TECTAc.4767G>C (p.Val1589=)
c.2074G>C
n.703G>C
c.5724G>C (p.Val1908=)
11g.121160212G=CA2004739197TBCEL-TECTA,TECTAc.4767G= (p.Val1589=)
c.2074G=
n.703G=
c.5724G= (p.Val1908=)
11g.121160212G>TCA477383201TBCEL-TECTA,TECTAc.4767G>T (p.Val1589=)
c.2074G>T
n.703G>T
c.5724G>T (p.Val1908=)
11g.121160213A=CA2004739199TBCEL-TECTA,TECTAc.4768A= (p.Ile1590=)
c.2075A=
n.704A=
c.5725A= (p.Ile1909=)
11g.121160213A>CCA383028536TBCEL-TECTA,TECTAc.4768A>C (p.Ile1590Leu)
c.2075A>C
n.704A>C
c.5725A>C (p.Ile1909Leu)
11g.121160213A>GCA6327559TBCEL-TECTA,TECTAc.4768A>G (p.Ile1590Val)
c.2075A>G
n.704A>G
c.5725A>G (p.Ile1909Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160213A>TCA383028538TBCEL-TECTA,TECTAc.4768A>T (p.Ile1590Phe)
c.2075A>T
n.704A>T
c.5725A>T (p.Ile1909Phe)
11g.121160214T>ACA383028540TBCEL-TECTA,TECTAc.4769T>A (p.Ile1590Asn)
c.2076T>A
n.705T>A
c.5726T>A (p.Ile1909Asn)
11g.121160214T>CCA383028546TBCEL-TECTA,TECTAc.4769T>C (p.Ile1590Thr)
c.2076T>C
n.705T>C
c.5726T>C (p.Ile1909Thr)
11g.121160214T>GCA383028543TBCEL-TECTA,TECTAc.4769T>G (p.Ile1590Ser)
c.2076T>G
n.705T>G
c.5726T>G (p.Ile1909Ser)
11g.121160215T>ACA477383202TBCEL-TECTA,TECTAc.4770T>A (p.Ile1590=)
c.2077T>A
n.706T>A
c.5727T>A (p.Ile1909=)
11g.121160215T>CCA477383203TBCEL-TECTA,TECTAc.4770T>C (p.Ile1590=)
c.2077T>C
n.706T>C
c.5727T>C (p.Ile1909=)
11g.121160215T>GCA383028547TBCEL-TECTA,TECTAc.4770T>G (p.Ile1590Met)
c.2077T>G
n.706T>G
c.5727T>G (p.Ile1909Met)
11g.121160216G>ACA383028550TBCEL-TECTA,TECTAc.4771G>A (p.Asp1591Asn)
c.2078G>A
n.707G>A
c.5728G>A (p.Asp1910Asn)
11g.121160216G>CCA6327560TBCEL-TECTA,TECTAc.4771G>C (p.Asp1591His)
c.2078G>C
n.707G>C
c.5728G>C (p.Asp1910His)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160216G=CA2004739202TBCEL-TECTA,TECTAc.4771G= (p.Asp1591=)
c.2078G=
n.707G=
c.5728G= (p.Asp1910=)

Number of alleles fetched