Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.38144290A=CA1777409247STARc.841T= (p.Ser281=)
n.2810T=
c.683T=
c.747T= (p.Pro249=)
8g.38144290A>CCA370695534STARc.841T>G (p.Ser281Ala)
n.2810T>G
c.683T>G
c.747T>G (p.Pro249=)
8g.38144290A>GCA370695540STARc.841T>C (p.Ser281Pro)
n.2810T>C
c.683T>C
c.747T>C (p.Pro249=)
 dbSNP gnomAD v2 gnomAD v4
8g.38144290A>TCA4715117STARc.841T>A (p.Ser281Thr)
n.2810T>A
c.683T>A
c.747T>A (p.Pro249=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144291G>ACA460374916STARc.840C>T (p.Ala280=)
n.2809C>T
c.682C>T
c.746C>T (p.Pro249Leu)
8g.38144291G>CCA460374917STARc.840C>G (p.Ala280=)
n.2809C>G
c.682C>G
c.746C>G (p.Pro249Arg)
8g.38144291G>TCA460374918STARc.840C>A (p.Ala280=)
n.2809C>A
c.682C>A
c.746C>A (p.Pro249His)
 gnomAD v4
8g.38144292G>ACA370695546STARc.839C>T (p.Ala280Val)
n.2808C>T
c.681C>T
c.745C>T (p.Pro249Ser)
8g.38144292G>CCA370695550STARc.839C>G (p.Ala280Gly)
n.2808C>G
c.681C>G
c.745C>G (p.Pro249Ala)
8g.38144292G>TCA370695552STARc.839C>A (p.Ala280Asp)
n.2808C>A
c.681C>A
c.745C>A (p.Pro249Thr)
8g.38144293C>ACA370695556STARc.838G>T (p.Ala280Ser)
n.2807G>T
c.680G>T
c.744G>T (p.Leu248=)
 dbSNP
8g.38144293C=CA1777409250STARc.838G= (p.Ala280=)
n.2807G=
c.680G=
c.744G= (p.Leu248=)
8g.38144293C>GCA370695558STARc.838G>C (p.Ala280Pro)
n.2807G>C
c.680G>C
c.744G>C (p.Leu248=)
8g.38144293C>TCA370695563STARc.838G>A (p.Ala280Thr)
n.2807G>A
c.680G>A
c.744G>A (p.Leu248=)
 gnomAD v4
8g.38144294A>CCA460374919STARc.837T>G (p.Pro279=)
n.2806T>G
c.679T>G
c.743T>G (p.Leu248Arg)
8g.38144294A>GCA460374920STARc.837T>C (p.Pro279=)
n.2806T>C
c.679T>C
c.743T>C (p.Leu248Pro)
 ClinVar
8g.38144294A>TCA460374921STARc.837T>A (p.Pro279=)
n.2806T>A
c.679T>A
c.743T>A (p.Leu248Gln)
8g.38144295G>ACA370695569STARc.836C>T (p.Pro279Leu)
n.2805C>T
c.678C>T
c.742C>T (p.Leu248=)
 gnomAD v4
8g.38144295G>CCA4715118STARc.836C>G (p.Pro279Arg)
n.2805C>G
c.678C>G
c.742C>G (p.Leu248Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144295G=CA1777409252STARc.836C= (p.Pro279=)
n.2805C=
c.678C=
c.742C= (p.Leu248=)
8g.38144295G>TCA370695566STARc.836C>A (p.Pro279His)
n.2805C>A
c.678C>A
c.742C>A (p.Leu248Met)
 gnomAD v4
8g.38144296G>ACA370695572STARc.835C>T (p.Pro279Ser)
n.2804C>T
c.677C>T
c.741C>T (p.Thr247=)
 gnomAD v4
8g.38144296G>CCA370695575STARc.835C>G (p.Pro279Ala)
n.2804C>G
c.677C>G
c.741C>G (p.Thr247=)
8g.38144296G=CA1777409254STARc.835C= (p.Pro279=)
n.2804C=
c.677C=
c.741C= (p.Thr247=)
8g.38144296G>TCA370695577STARc.835C>A (p.Pro279Thr)
n.2804C>A
c.677C>A
c.741C>A (p.Thr247=)
 dbSNP
8g.38144297G>ACA460374922STARc.834C>T (p.His278=)
n.2803C>T
c.676C>T
c.740C>T (p.Thr247Ile)
8g.38144297G>CCA370695583STARc.834C>G (p.His278Gln)
n.2803C>G
c.676C>G
c.740C>G (p.Thr247Ser)
8g.38144297G>TCA370695586STARc.834C>A (p.His278Gln)
n.2803C>A
c.676C>A
c.740C>A (p.Thr247Asn)
 gnomAD v4
8g.38144298T>ACA370695595STARc.833A>T (p.His278Leu)
n.2802A>T
c.675A>T
c.739A>T (p.Thr247Ser)
8g.38144298T>CCA370695597STARc.833A>G (p.His278Arg)
n.2802A>G
c.675A>G
c.739A>G (p.Thr247Ala)
8g.38144298T>GCA4715119STARc.833A>C (p.His278Pro)
n.2802A>C
c.675A>C
c.739A>C (p.Thr247Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144298T=CA1777409256STARc.833A= (p.His278=)
n.2802A=
c.675A=
c.739A= (p.Thr247=)
8g.38144299G>ACA370695600STARc.832C>T (p.His278Tyr)
n.2801C>T
c.674C>T
c.738C>T (p.Pro246=)
8g.38144299G>CCA370695604STARc.832C>G (p.His278Asp)
n.2801C>G
c.674C>G
c.738C>G (p.Pro246=)
8g.38144299G>TCA370695606STARc.832C>A (p.His278Asn)
n.2801C>A
c.674C>A
c.738C>A (p.Pro246=)
 gnomAD v4
8g.38144301delCA2779765813STARc.832del (p.His278ThrfsTer?)
n.2801del
c.674del
c.738del (p.Thr247ProfsTer4)
8g.38144300G>ACA460374923STARc.831C>T (p.Ser277=)
n.2800C>T
c.673C>T
c.737C>T (p.Pro246Leu)
 COSMIC
8g.38144300G>CCA460374924STARc.831C>G (p.Ser277=)
n.2800C>G
c.673C>G
c.737C>G (p.Pro246Arg)
8g.38144300G>TCA460374925STARc.831C>A (p.Ser277=)
n.2800C>A
c.673C>A
c.737C>A (p.Pro246His)
8g.38144301G>ACA370695609STARc.830C>T (p.Ser277Phe)
n.2799C>T
c.672C>T
c.736C>T (p.Pro246Ser)
8g.38144301G>CCA4715120STARc.830C>G (p.Ser277Cys)
n.2799C>G
c.672C>G
c.736C>G (p.Pro246Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144301G=CA1777409260STARc.830C= (p.Ser277=)
n.2799C=
c.672C=
c.736C= (p.Pro246=)
8g.38144301G>TCA370695614STARc.830C>A (p.Ser277Tyr)
n.2799C>A
c.672C>A
c.736C>A (p.Pro246Thr)
 gnomAD v4
8g.38144302A=CA1777409263STARc.829T= (p.Ser277=)
n.2798T=
c.671T=
c.735T= (p.Ser245=)
8g.38144302A>CCA370695619STARc.829T>G (p.Ser277Ala)
n.2798T>G
c.671T>G
c.735T>G (p.Ser245Arg)
8g.38144302A>GCA4715121STARc.829T>C (p.Ser277Pro)
n.2798T>C
c.671T>C
c.735T>C (p.Ser245=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144302A>TCA175091054STARc.829T>A (p.Ser277Thr)
n.2798T>A
c.671T>A
c.735T>A (p.Ser245Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144303C>ACA370695623STARc.828G>T (p.Glu276Asp)
n.2797G>T
c.670G>T
c.734G>T (p.Ser245Ile)
8g.38144303C>GCA370695625STARc.828G>C (p.Glu276Asp)
n.2797G>C
c.670G>C
c.734G>C (p.Ser245Thr)
8g.38144303C>TCA460374926STARc.828G>A (p.Glu276=)
n.2797G>A
c.670G>A
c.734G>A (p.Ser245Asn)

Number of alleles fetched