Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
8g.38144304T>ACA370695628STARc.827A>T (p.Glu276Val)
n.2796A>T
c.669A>T
c.733A>T (p.Ser245Cys)
 ClinVar dbSNP gnomAD v4
8g.38144304T>CCA370695632STARc.827A>G (p.Glu276Gly)
n.2796A>G
c.669A>G
c.733A>G (p.Ser245Gly)
8g.38144304T>GCA370695634STARc.827A>C (p.Glu276Ala)
n.2796A>C
c.669A>C
c.733A>C (p.Ser245Arg)
8g.38144305C>ACA370695638STARc.826G>T (p.Glu276Ter)
n.2795G>T
c.668G>T
c.732G>T (p.Trp244Cys)
 gnomAD v4
8g.38144305C>GCA370695642STARc.826G>C (p.Glu276Gln)
n.2795G>C
c.668G>C
c.732G>C (p.Trp244Cys)
 gnomAD v4
8g.38144305C>TCA370695645STARc.826G>A (p.Glu276Lys)
n.2795G>A
c.668G>A
c.732G>A (p.Trp244Ter)
8g.38144306C>ACA460374929STARc.825G>T (p.Leu275=)
n.2794G>T
c.667G>T
c.731G>T (p.Trp244Leu)
8g.38144306C>GCA460374928STARc.825G>C (p.Leu275=)
n.2794G>C
c.667G>C
c.731G>C (p.Trp244Ser)
8g.38144306C>TCA460374927STARc.825G>A (p.Leu275=)
n.2794G>A
c.667G>A
c.731G>A (p.Trp244Ter)
8g.38144307A=CA1777409269STARc.824T= (p.Leu275=)
n.2793T=
c.666T=
c.730T= (p.Trp244=)
8g.38144307A>CCA370695649STARc.824T>G (p.Leu275Arg)
n.2793T>G
c.666T>G
c.730T>G (p.Trp244Gly)
8g.38144307A>GCA4715122STARc.824T>C (p.Leu275Pro)
n.2793T>C
c.666T>C
c.730T>C (p.Trp244Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144307A>TCA370695652STARc.824T>A (p.Leu275Gln)
n.2793T>A
c.666T>A
c.730T>A (p.Trp244Arg)
 gnomAD v4
8g.38144308G>ACA460374930STARc.823C>T (p.Leu275=)
n.2792C>T
c.665C>T
c.729C>T (p.Ala243=)
8g.38144308G>CCA370695653STARc.823C>G (p.Leu275Val)
n.2792C>G
c.665C>G
c.729C>G (p.Ala243=)
8g.38144308G>TCA370695654STARc.823C>A (p.Leu275Met)
n.2792C>A
c.665C>A
c.729C>A (p.Ala243=)
 gnomAD v4
8g.38144309dupCA2838919039STARc.823dup (p.Leu275ProfsTer8)
n.2792dup
c.665dup
c.729dup (p.Trp244LeufsTer12)
8g.38144309G>ACA460374931STARc.822C>T (p.Arg274=)
n.2791C>T
c.664C>T
c.728C>T (p.Ala243Val)
 gnomAD v4
8g.38144309G>CCA460374933STARc.822C>G (p.Arg274=)
n.2791C>G
c.664C>G
c.728C>G (p.Ala243Gly)
 gnomAD v4
8g.38144309G>TCA460374932STARc.822C>A (p.Arg274=)
n.2791C>A
c.664C>A
c.728C>A (p.Ala243Asp)
8g.38144309_38144310insTCA2695209001STARc.821_822insA (p.Leu275ProfsTer8)
n.2790_2791insA
c.663_664insA
c.727_728insA (p.Ala243AspfsTer13)
8g.38144310C>ACA370695656STARc.821G>T (p.Arg274Leu)
n.2790G>T
c.663G>T
c.727G>T (p.Ala243Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144310C=CA1777409273STARc.821G= (p.Arg274=)
n.2790G=
c.663G=
c.727G= (p.Ala243=)
8g.38144310C>GCA370695655STARc.821G>C (p.Arg274Pro)
n.2790G>C
c.663G>C
c.727G>C (p.Ala243Pro)
8g.38144310C>TCA4715123STARc.821G>A (p.Arg274His)
n.2790G>A
c.663G>A
c.727G>A (p.Ala243Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144311G>ACA4715124STARc.820C>T (p.Arg274Cys)
n.2789C>T
c.662C>T
c.726C>T (p.Ser242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144311G>CCA4715125STARc.820C>G (p.Arg274Gly)
n.2789C>G
c.662C>G
c.726C>G (p.Ser242Arg)
 dbSNP ExAC gnomAD v4
8g.38144311G=CA1777409276STARc.820C= (p.Arg274=)
n.2789C=
c.662C=
c.726C= (p.Ser242=)
8g.38144311G>TCA370695661STARc.820C>A (p.Arg274Ser)
n.2789C>A
c.662C>A
c.726C>A (p.Ser242Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.38144312delCA2686931601STARc.819del (p.Lys273AsnfsTer?)
n.2788del
c.661del
c.725del (p.Ser242ThrfsTer9)
 gnomAD v4
8g.38144312C>ACA370695664STARc.819G>T (p.Lys273Asn)
n.2788G>T
c.661G>T
c.725G>T (p.Ser242Ile)
8g.38144312C=CA1777409279STARc.819G= (p.Lys273=)
n.2788G=
c.661G=
c.725G= (p.Ser242=)
8g.38144312C>GCA370695665STARc.819G>C (p.Lys273Asn)
n.2788G>C
c.661G>C
c.725G>C (p.Ser242Thr)
8g.38144312C>TCA460374934STARc.819G>A (p.Lys273=)
n.2788G>A
c.661G>A
c.725G>A (p.Ser242Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.38144313T>ACA370695666STARc.818A>T (p.Lys273Met)
n.2787A>T
c.660A>T
c.724A>T (p.Ser242Cys)
8g.38144313T>CCA370695669STARc.818A>G (p.Lys273Arg)
n.2787A>G
c.660A>G
c.724A>G (p.Ser242Gly)
 gnomAD v4
8g.38144313T>GCA370695671STARc.818A>C (p.Lys273Thr)
n.2787A>C
c.660A>C
c.724A>C (p.Ser242Arg)
8g.38144314T>ACA370695675STARc.817A>T (p.Lys273Ter)
n.2786A>T
c.659A>T
c.723A>T (p.Ala241=)
8g.38144314T>CCA370695677STARc.817A>G (p.Lys273Glu)
n.2786A>G
c.659A>G
c.723A>G (p.Ala241=)
 dbSNP
8g.38144314T>GCA370695679STARc.817A>C (p.Lys273Gln)
n.2786A>C
c.659A>C
c.723A>C (p.Ala241=)
 gnomAD v4
8g.38144314T=CA1777409280STARc.817A= (p.Lys273=)
n.2786A=
c.659A=
c.723A= (p.Ala241=)
8g.38144315G>ACA460374935STARc.816C>T (p.Arg272=)
n.2785C>T
c.658C>T
c.722C>T (p.Ala241Val)
 gnomAD v4
8g.38144315G>CCA460374936STARc.816C>G (p.Arg272=)
n.2785C>G
c.658C>G
c.722C>G (p.Ala241Gly)
8g.38144315G>TCA460374937STARc.816C>A (p.Arg272=)
n.2785C>A
c.658C>A
c.722C>A (p.Ala241Glu)
8g.38144315_38144317delCA2695209002STARc.814_816del (p.Arg272del)
n.2783_2785del
c.656_658del
c.720_722del (p.Cys240Ter)
8g.38144316delCA2695209003STARc.815del (p.Arg272ProfsTer?)
n.2784del
c.657del
c.721del (p.Ala241GlnfsTer10)
8g.38144316C>ACA370695682STARc.815G>T (p.Arg272Leu)
n.2784G>T
c.657G>T
c.721G>T (p.Ala241Ser)
 dbSNP gnomAD v2
8g.38144316C=CA1777409281STARc.815G= (p.Arg272=)
n.2784G=
c.657G=
c.721G= (p.Ala241=)
8g.38144316C>GCA370695680STARc.815G>C (p.Arg272Pro)
n.2784G>C
c.657G>C
c.721G>C (p.Ala241Pro)
 gnomAD v4
8g.38144316C>TCA4715126STARc.815G>A (p.Arg272His)
n.2784G>A
c.657G>A
c.721G>A (p.Ala241Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144317G>ACA4715127STARc.814C>T (p.Arg272Cys)
n.2783C>T
c.656C>T
c.720C>T (p.Cys240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.38144317G>CCA370695688STARc.814C>G (p.Arg272Gly)
n.2783C>G
c.656C>G
c.720C>G (p.Cys240Trp)
 ClinVar
8g.38144317G=CA1777409282STARc.814C= (p.Arg272=)
n.2783C=
c.656C=
c.720C= (p.Cys240=)
8g.38144317G>TCA370695686STARc.814C>A (p.Arg272Ser)
n.2783C>A
c.656C>A
c.720C>A (p.Cys240Ter)
 dbSNP gnomAD v4
8g.38144318C>ACA460374938STARc.813G>T (p.Leu271=)
n.2782G>T
c.655G>T
c.719G>T (p.Cys240Phe)
8g.38144318C>GCA460374939STARc.813G>C (p.Leu271=)
n.2782G>C
c.655G>C
c.719G>C (p.Cys240Ser)
8g.38144318C>TCA460374940STARc.813G>A (p.Leu271=)
n.2782G>A
c.655G>A
c.719G>A (p.Cys240Tyr)
 gnomAD v4
8g.38144319A=CA1777409284STARc.812T= (p.Leu271=)
n.2781T=
c.654T=
c.718T= (p.Cys240=)
8g.38144319A>CCA370695698STARc.812T>G (p.Leu271Arg)
n.2781T>G
c.654T>G
c.718T>G (p.Cys240Gly)
 gnomAD v4
8g.38144319A>GCA370695702STARc.812T>C (p.Leu271Pro)
n.2781T>C
c.654T>C
c.718T>C (p.Cys240Arg)
8g.38144319A>TCA370695699STARc.812T>A (p.Leu271Gln)
n.2781T>A
c.654T>A
c.718T>A (p.Cys240Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144319_38144320delCA913141652STARc.811_812del (p.Leu271AlafsTer11)
n.2780_2781del
c.653_654del
c.717_718del (p.Cys240ArgfsTer15)
8g.38144319_38144320delinsAGCA1777409283STARc.811_812delinsCT (p.Leu271=)
n.2780_2781delinsCT
c.653_654delinsCT
c.717_718delinsCT (p.Thr239=)
8g.38144320G>ACA460374941STARc.811C>T (p.Leu271=)
n.2780C>T
c.653C>T
c.717C>T (p.Thr239=)
8g.38144320G>CCA370695708STARc.811C>G (p.Leu271Val)
n.2780C>G
c.653C>G
c.717C>G (p.Thr239=)
 dbSNP gnomAD v2
8g.38144320G=CA1777409285STARc.811C= (p.Leu271=)
n.2780C=
c.653C=
c.717C= (p.Thr239=)
8g.38144320G>TCA370695712STARc.811C>A (p.Leu271Met)
n.2780C>A
c.653C>A
c.717C>A (p.Thr239=)
 gnomAD v4
8g.38144321delCA581109596STARc.811del (p.Leu271CysfsTer?)
n.2780del
c.653del
c.717del (p.Cys240AlafsTer11)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144321G>ACA175091124STARc.810C>T (p.His270=)
n.2779C>T
c.652C>T
c.716C>T (p.Thr239Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.38144321G>CCA370695715STARc.810C>G (p.His270Gln)
n.2779C>G
c.652C>G
c.716C>G (p.Thr239Ser)
8g.38144321G=CA1777409286STARc.810C= (p.His270=)
n.2779C=
c.652C=
c.716C= (p.Thr239=)
8g.38144321G>TCA370695717STARc.810C>A (p.His270Gln)
n.2779C>A
c.652C>A
c.716C>A (p.Thr239Asn)
 gnomAD v4
8g.38144322T>ACA370695722STARc.809A>T (p.His270Leu)
n.2778A>T
c.651A>T
c.715A>T (p.Thr239Ser)
8g.38144322T>CCA370695724STARc.809A>G (p.His270Arg)
n.2778A>G
c.651A>G
c.715A>G (p.Thr239Ala)
 gnomAD v4
8g.38144322T>GCA370695727STARc.809A>C (p.His270Pro)
n.2778A>C
c.651A>C
c.715A>C (p.Thr239Pro)
 dbSNP
8g.38144322T=CA1777409287STARc.809A= (p.His270=)
n.2778A=
c.651A=
c.715A= (p.Thr239=)
8g.38144323G>ACA370695730STARc.808C>T (p.His270Tyr)
n.2777C>T
c.650C>T
c.714C>T (p.Thr238=)
 gnomAD v4
8g.38144323G>CCA370695734STARc.808C>G (p.His270Asp)
n.2777C>G
c.650C>G
c.714C>G (p.Thr238=)
8g.38144323G>TCA370695736STARc.808C>A (p.His270Asn)
n.2777C>A
c.650C>A
c.714C>A (p.Thr238=)
8g.38144324G>ACA460374942STARc.807C>T (p.Asn269=)
n.2776C>T
c.649C>T
c.713C>T (p.Thr238Ile)
8g.38144324G>CCA370695739STARc.807C>G (p.Asn269Lys)
n.2776C>G
c.649C>G
c.713C>G (p.Thr238Ser)
8g.38144324G>TCA370695740STARc.807C>A (p.Asn269Lys)
n.2776C>A
c.649C>A
c.713C>A (p.Thr238Asn)
 gnomAD v4 COSMIC
8g.38144325T>ACA370695744STARc.806A>T (p.Asn269Ile)
n.2775A>T
c.648A>T
c.712A>T (p.Thr238Ser)
8g.38144325T>CCA370695750STARc.806A>G (p.Asn269Ser)
n.2775A>G
c.648A>G
c.712A>G (p.Thr238Ala)
8g.38144325T>GCA370695748STARc.806A>C (p.Asn269Thr)
n.2775A>C
c.648A>C
c.712A>C (p.Thr238Pro)
 dbSNP gnomAD v4
8g.38144325T=CA1777409288STARc.806A= (p.Asn269=)
n.2775A=
c.648A=
c.712A= (p.Thr238=)
8g.38144326T>ACA370695752STARc.805A>T (p.Asn269Tyr)
n.2774A>T
c.647A>T
c.711A>T (p.Pro237=)
8g.38144326T>CCA370695754STARc.805A>G (p.Asn269Asp)
n.2774A>G
c.647A>G
c.711A>G (p.Pro237=)
8g.38144326T>GCA370695755STARc.805A>C (p.Asn269His)
n.2774A>C
c.647A>C
c.711A>C (p.Pro237=)
8g.38144327G>ACA460374943STARc.804C>T (p.Ala268=)
n.2773C>T
c.646C>T
c.710C>T (p.Pro237Leu)
8g.38144327G>CCA460374944STARc.804C>G (p.Ala268=)
n.2773C>G
c.646C>G
c.710C>G (p.Pro237Arg)
8g.38144327G>TCA460374945STARc.804C>A (p.Ala268=)
n.2773C>A
c.646C>A
c.710C>A (p.Pro237Gln)
8g.38144328G>ACA370695760STARc.803C>T (p.Ala268Val)
n.2772C>T
c.645C>T
c.709C>T (p.Pro237Ser)
 gnomAD v4
8g.38144328G>CCA370695763STARc.803C>G (p.Ala268Gly)
n.2772C>G
c.645C>G
c.709C>G (p.Pro237Ala)
8g.38144328G>TCA370695764STARc.803C>A (p.Ala268Asp)
n.2772C>A
c.645C>A
c.709C>A (p.Pro237Thr)
 gnomAD v4
8g.38144329C>ACA370695768STARc.802G>T (p.Ala268Ser)
n.2771G>T
c.644G>T
c.708G>T (p.Leu236Phe)
8g.38144329C=CA1777409289STARc.802G= (p.Ala268=)
n.2771G=
c.644G=
c.708G= (p.Leu236=)
8g.38144329C>GCA370695771STARc.802G>C (p.Ala268Pro)
n.2771G>C
c.644G>C
c.708G>C (p.Leu236Phe)
8g.38144329C>TCA370695773STARc.802G>A (p.Ala268Thr)
n.2771G>A
c.644G>A
c.708G>A (p.Leu236=)
8g.38144329dupCA913141653STARc.802dup (p.Ala268GlyfsTer15)
n.2771dup
c.644dup
c.708dup (p.Pro237AlafsTer19)
8g.38144330A>CCA370695779STARc.801T>G (p.Phe267Leu)
n.2770T>G
c.643T>G
c.707T>G (p.Leu236Trp)
8g.38144330A>GCA460374946STARc.801T>C (p.Phe267=)
n.2770T>C
c.643T>C
c.707T>C (p.Leu236Ser)
8g.38144330A>TCA370695776STARc.801T>A (p.Phe267Leu)
n.2770T>A
c.643T>A
c.707T>A (p.Leu236Ter)
8g.38144333dupCA658822459STARc.801dup (p.Ala268CysfsTer15)
n.2770dup
c.643dup
c.707dup (p.Leu236PhefsTer20)
 ClinVar dbSNP
8g.38144331A=CA1777409290STARc.800T= (p.Phe267=)
n.2769T=
c.642T=
c.706T= (p.Leu236=)
8g.38144331A>CCA370695782STARc.800T>G (p.Phe267Cys)
n.2769T>G
c.642T>G
c.706T>G (p.Leu236Val)
8g.38144331A>GCA370695795STARc.800T>C (p.Phe267Ser)
n.2769T>C
c.642T>C
c.706T>C (p.Leu236=)
 dbSNP gnomAD v3 gnomAD v4
8g.38144331A>TCA370695798STARc.800T>A (p.Phe267Tyr)
n.2769T>A
c.642T>A
c.706T>A (p.Leu236Met)
8g.38144332A>CCA370695804STARc.799T>G (p.Phe267Val)
n.2768T>G
c.641T>G
c.705T>G (p.Ile235Met)
8g.38144332A>GCA370695805STARc.799T>C (p.Phe267Leu)
n.2768T>C
c.641T>C
c.705T>C (p.Ile235=)
8g.38144332A>TCA370695806STARc.799T>A (p.Phe267Ile)
n.2768T>A
c.641T>A
c.705T>A (p.Ile235=)
8g.38144333A>CCA370695813STARc.798T>G (p.Asp266Glu)
n.2767T>G
c.640T>G
c.704T>G (p.Ile235Ser)
8g.38144333A>GCA460374947STARc.798T>C (p.Asp266=)
n.2767T>C
c.640T>C
c.704T>C (p.Ile235Thr)
8g.38144333A>TCA370695810STARc.798T>A (p.Asp266Glu)
n.2767T>A
c.640T>A
c.704T>A (p.Ile235Asn)
8g.38144334T>ACA370695817STARc.797A>T (p.Asp266Val)
n.2766A>T
c.639A>T
c.703A>T (p.Ile235Phe)
8g.38144334T>CCA370695818STARc.797A>G (p.Asp266Gly)
n.2766A>G
c.639A>G
c.703A>G (p.Ile235Val)
8g.38144334T>GCA370695820STARc.797A>C (p.Asp266Ala)
n.2766A>C
c.639A>C
c.703A>C (p.Ile235Leu)
8g.38144335C>ACA370695823STARc.796G>T (p.Asp266Tyr)
n.2765G>T
c.638G>T
c.702G>T (p.Trp234Cys)
8g.38144335C>GCA370695824STARc.796G>C (p.Asp266His)
n.2765G>C
c.638G>C
c.702G>C (p.Trp234Cys)
8g.38144335C>TCA370695825STARc.796G>A (p.Asp266Asn)
n.2765G>A
c.638G>A
c.702G>A (p.Trp234Ter)
8g.38144336C>ACA460374948STARc.795G>T (p.Val265=)
n.2764G>T
c.637G>T
c.701G>T (p.Trp234Leu)
 gnomAD v4
8g.38144336C>GCA460374950STARc.795G>C (p.Val265=)
n.2764G>C
c.637G>C
c.701G>C (p.Trp234Ser)
8g.38144336C>TCA460374949STARc.795G>A (p.Val265=)
n.2764G>A
c.637G>A
c.701G>A (p.Trp234Ter)
 ClinVar dbSNP gnomAD v4
8g.38144337A>CCA370695826STARc.794T>G (p.Val265Gly)
n.2763T>G
c.636T>G
c.700T>G (p.Trp234Gly)
8g.38144337A>GCA370695829STARc.794T>C (p.Val265Ala)
n.2763T>C
c.636T>C
c.700T>C (p.Trp234Arg)
8g.38144337A>TCA370695828STARc.794T>A (p.Val265Glu)
n.2763T>A
c.636T>A
c.700T>A (p.Trp234Arg)
 gnomAD v4
8g.38144338C>ACA370695831STARc.793G>T (p.Val265Leu)
n.2762G>T
c.635G>T
c.699G>T (p.Arg233Ser)
8g.38144338C=CA1777409291STARc.793G= (p.Val265=)
n.2762G=
c.635G=
c.699G= (p.Arg233=)
8g.38144338C>GCA370695833STARc.793G>C (p.Val265Leu)
n.2762G>C
c.635G>C
c.699G>C (p.Arg233Ser)
8g.38144338C>TCA370695836STARc.793G>A (p.Val265Met)
n.2762G>A
c.635G>A
c.699G>A (p.Arg233=)
 dbSNP gnomAD v4
8g.38144339C>ACA370695840STARc.792G>T (p.Gln264His)
n.2761G>T
c.634G>T
c.698G>T (p.Arg233Met)
 gnomAD v4
8g.38144339C=CA1777409292STARc.792G= (p.Gln264=)
n.2761G=
c.634G=
c.698G= (p.Arg233=)
8g.38144339C>GCA370695842STARc.792G>C (p.Gln264His)
n.2761G>C
c.634G>C
c.698G>C (p.Arg233Thr)
8g.38144339C>TCA460374951STARc.792G>A (p.Gln264=)
n.2761G>A
c.634G>A
c.698G>A (p.Arg233Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144340T>ACA370695851STARc.791A>T (p.Gln264Leu)
n.2760A>T
c.633A>T
c.697A>T (p.Arg233Trp)
8g.38144340T>CCA370695852STARc.791A>G (p.Gln264Arg)
n.2760A>G
c.633A>G
c.697A>G (p.Arg233Gly)
 gnomAD v4
8g.38144340T>GCA370695854STARc.791A>C (p.Gln264Pro)
n.2760A>C
c.633A>C
c.697A>C (p.Arg233=)
8g.38144341G>ACA370695855STARc.790C>T (p.Gln264Ter)
n.2759C>T
c.632C>T
c.696C>T (p.Pro232=)
8g.38144341G>CCA370695858STARc.790C>G (p.Gln264Glu)
n.2759C>G
c.632C>G
c.696C>G (p.Pro232=)
 gnomAD v4
8g.38144341G>TCA370695863STARc.790C>A (p.Gln264Lys)
n.2759C>A
c.632C>A
c.696C>A (p.Pro232=)
8g.38144342G>ACA460374952STARc.789C>T (p.Thr263=)
n.2758C>T
c.631C>T
c.695C>T (p.Pro232Leu)
 gnomAD v4
8g.38144342G>CCA460374953STARc.789C>G (p.Thr263=)
n.2758C>G
c.631C>G
c.695C>G (p.Pro232Arg)
 ClinVar dbSNP
8g.38144342G>TCA460374954STARc.789C>A (p.Thr263=)
n.2758C>A
c.631C>A
c.695C>A (p.Pro232His)
 ClinVar
8g.38144343G>ACA4715128STARc.788C>T (p.Thr263Ile)
n.2757C>T
c.630C>T
c.694C>T (p.Pro232Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144343G>CCA370695871STARc.788C>G (p.Thr263Ser)
n.2757C>G
c.630C>G
c.694C>G (p.Pro232Ala)
 gnomAD v4
8g.38144343G=CA1777409293STARc.788C= (p.Thr263=)
n.2757C=
c.630C=
c.694C= (p.Pro232=)
8g.38144343G>TCA370695865STARc.788C>A (p.Thr263Asn)
n.2757C>A
c.630C>A
c.694C>A (p.Pro232Thr)
 gnomAD v4 COSMIC
8g.38144344T>ACA370695892STARc.787A>T (p.Thr263Ser)
n.2756A>T
c.629A>T
c.693A>T (p.Arg231Ser)
8g.38144344T>CCA370695888STARc.787A>G (p.Thr263Ala)
n.2756A>G
c.629A>G
c.693A>G (p.Arg231=)
 ClinVar
8g.38144344T>GCA370695889STARc.787A>C (p.Thr263Pro)
n.2756A>C
c.629A>C
c.693A>C (p.Arg231Ser)
8g.38144345C>ACA370695896STARc.786G>T (p.Gln262His)
n.2755G>T
c.628G>T
c.692G>T (p.Arg231Ile)
8g.38144345C>GCA370695902STARc.786G>C (p.Gln262His)
n.2755G>C
c.628G>C
c.692G>C (p.Arg231Thr)
8g.38144345C>TCA460374955STARc.786G>A (p.Gln262=)
n.2755G>A
c.628G>A
c.692G>A (p.Arg231Lys)
 gnomAD v4
8g.38144346T>ACA370695907STARc.785A>T (p.Gln262Leu)
n.2754A>T
c.627A>T
c.691A>T (p.Arg231Ter)
8g.38144346T>CCA370695912STARc.785A>G (p.Gln262Arg)
n.2754A>G
c.627A>G
c.691A>G (p.Arg231Gly)
8g.38144346T>GCA370695922STARc.785A>C (p.Gln262Pro)
n.2754A>C
c.627A>C
c.691A>C (p.Arg231=)
8g.38144347G>ACA370695923STARc.784C>T (p.Gln262Ter)
n.2753C>T
c.626C>T
c.690C>T (p.Pro230=)
 gnomAD v4
8g.38144347G>CCA370695924STARc.784C>G (p.Gln262Glu)
n.2753C>G
c.626C>G
c.690C>G (p.Pro230=)
8g.38144347G>TCA370695926STARc.784C>A (p.Gln262Lys)
n.2753C>A
c.626C>A
c.690C>A (p.Pro230=)
8g.38144349delCA2499219279STARc.784del (p.Gln262ArgfsTer?)
n.2753del
c.626del
c.690del (p.Arg231AspfsTer20)
 ClinVar dbSNP
8g.38144348G>ACA460374956STARc.783C>T (p.Ser261=)
n.2752C>T
c.625C>T
c.689C>T (p.Pro230Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144348G>CCA460374957STARc.783C>G (p.Ser261=)
n.2752C>G
c.625C>G
c.689C>G (p.Pro230Arg)
8g.38144348G=CA1777409294STARc.783C= (p.Ser261=)
n.2752C=
c.625C=
c.689C= (p.Pro230=)
8g.38144348G>TCA460374958STARc.783C>A (p.Ser261=)
n.2752C>A
c.625C>A
c.689C>A (p.Pro230His)
 ClinVar
8g.38144349G>ACA370695931STARc.782C>T (p.Ser261Phe)
n.2751C>T
c.624C>T
c.688C>T (p.Pro230Ser)
 dbSNP gnomAD v2
8g.38144349G>CCA370695936STARc.782C>G (p.Ser261Cys)
n.2751C>G
c.624C>G
c.688C>G (p.Pro230Ala)
8g.38144349G=CA1777409295STARc.782C= (p.Ser261=)
n.2751C=
c.624C=
c.688C= (p.Pro230=)
8g.38144349G>TCA370695942STARc.782C>A (p.Ser261Tyr)
n.2751C>A
c.624C>A
c.688C>A (p.Pro230Thr)
8g.38144350A>CCA370695959STARc.781T>G (p.Ser261Ala)
n.2750T>G
c.623T>G
c.687T>G (p.Cys229Trp)
8g.38144350A>GCA370695945STARc.781T>C (p.Ser261Pro)
n.2750T>C
c.623T>C
c.687T>C (p.Cys229=)
8g.38144350A>TCA370695952STARc.781T>A (p.Ser261Thr)
n.2750T>A
c.623T>A
c.687T>A (p.Cys229Ter)
8g.38144351C>ACA460374959STARc.780G>T (p.Leu260=)
n.2749G>T
c.622G>T
c.686G>T (p.Cys229Phe)
 gnomAD v4
8g.38144351C>GCA460374960STARc.780G>C (p.Leu260=)
n.2749G>C
c.622G>C
c.686G>C (p.Cys229Ser)
 gnomAD v4
8g.38144351C>TCA460374961STARc.780G>A (p.Leu260=)
n.2749G>A
c.622G>A
c.686G>A (p.Cys229Tyr)
8g.38144352A=CA1777409297STARc.779T= (p.Leu260=)
n.2748T=
c.621T=
c.685T= (p.Cys229=)
8g.38144352A>CCA370695962STARc.779T>G (p.Leu260Arg)
n.2748T>G
c.621T>G
c.685T>G (p.Cys229Gly)
8g.38144352A>GCA4715129STARc.779T>C (p.Leu260Pro)
n.2748T>C
c.621T>C
c.685T>C (p.Cys229Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144352A>TCA370695969STARc.779T>A (p.Leu260Gln)
n.2748T>A
c.621T>A
c.685T>A (p.Cys229Ser)
8g.38144353G>ACA460374962STARc.778C>T (p.Leu260=)
n.2747C>T
c.620C>T
c.684C>T (p.Ser228=)
 gnomAD v4
8g.38144353G>CCA370695973STARc.778C>G (p.Leu260Val)
n.2747C>G
c.620C>G
c.684C>G (p.Ser228=)
8g.38144353G>TCA370695974STARc.778C>A (p.Leu260Met)
n.2747C>A
c.620C>A
c.684C>A (p.Ser228=)
 gnomAD v4 COSMIC
8g.38144354G>ACA460374963STARc.777C>T (p.Val259=)
n.2746C>T
c.619C>T
c.683C>T (p.Ser228Phe)
8g.38144354G>CCA460374964STARc.777C>G (p.Val259=)
n.2746C>G
c.619C>G
c.683C>G (p.Ser228Cys)
8g.38144354G=CA1777409299STARc.777C= (p.Val259=)
n.2746C=
c.619C=
c.683C= (p.Ser228=)
8g.38144354G>TCA4715130STARc.777C>A (p.Val259=)
n.2746C>A
c.619C>A
c.683C>A (p.Ser228Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144355A>CCA370695980STARc.776T>G (p.Val259Gly)
n.2745T>G
c.618T>G
c.682T>G (p.Ser228Ala)
8g.38144355A>GCA370695991STARc.776T>C (p.Val259Ala)
n.2745T>C
c.618T>C
c.682T>C (p.Ser228Pro)
8g.38144355A>TCA370695996STARc.776T>A (p.Val259Asp)
n.2745T>A
c.618T>A
c.682T>A (p.Ser228Thr)
8g.38144356C>ACA370695997STARc.775G>T (p.Val259Phe)
n.2744G>T
c.617G>T
c.681G>T (p.Arg227Ser)
8g.38144356C=CA1777409300STARc.775G= (p.Val259=)
n.2744G=
c.617G=
c.681G= (p.Arg227=)
8g.38144356C>GCA370695998STARc.775G>C (p.Val259Leu)
n.2744G>C
c.617G>C
c.681G>C (p.Arg227Ser)
8g.38144356C>TCA370695999STARc.775G>A (p.Val259Ile)
n.2744G>A
c.617G>A
c.681G>A (p.Arg227=)
 dbSNP gnomAD v3 gnomAD v4
8g.38144357C>ACA370696002STARc.774G>T (p.Gln258His)
n.2743G>T
c.616G>T
c.680G>T (p.Arg227Met)
 dbSNP gnomAD v2 gnomAD v4
8g.38144357C=CA1777409301STARc.774G= (p.Gln258=)
n.2743G=
c.616G=
c.680G= (p.Arg227=)
8g.38144357C>GCA370696001STARc.774G>C (p.Gln258His)
n.2743G>C
c.616G>C
c.680G>C (p.Arg227Thr)
8g.38144357C>TCA460374965STARc.774G>A (p.Gln258=)
n.2743G>A
c.616G>A
c.680G>A (p.Arg227Lys)
8g.38144358T>ACA370696005STARc.773A>T (p.Gln258Leu)
n.2742A>T
c.615A>T
c.679A>T (p.Arg227Trp)
8g.38144358T>CCA370696007STARc.773A>G (p.Gln258Arg)
n.2742A>G
c.615A>G
c.679A>G (p.Arg227Gly)
8g.38144358T>GCA370696009STARc.773A>C (p.Gln258Pro)
n.2742A>C
c.615A>C
c.679A>C (p.Arg227=)
8g.38144359G>ACA120034STARc.772C>T (p.Gln258Ter)
n.2741C>T
c.614C>T
c.678C>T (p.Thr226=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144359G>CCA370696015STARc.772C>G (p.Gln258Glu)
n.2741C>G
c.614C>G
c.678C>G (p.Thr226=)
8g.38144359G=CA1777409302STARc.772C= (p.Gln258=)
n.2741C=
c.614C=
c.678C= (p.Thr226=)
8g.38144359G>TCA370696018STARc.772C>A (p.Gln258Lys)
n.2741C>A
c.614C>A
c.678C>A (p.Thr226=)
8g.38144360G>ACA460374966STARc.771C>T (p.Asn257=)
n.2740C>T
c.613C>T
c.677C>T (p.Thr226Ile)
8g.38144360G>CCA4715131STARc.771C>G (p.Asn257Lys)
n.2740C>G
c.613C>G
c.677C>G (p.Thr226Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144360G=CA1777409303STARc.771C= (p.Asn257=)
n.2740C=
c.613C=
c.677C= (p.Thr226=)
8g.38144360G>TCA370696038STARc.771C>A (p.Asn257Lys)
n.2740C>A
c.613C>A
c.677C>A (p.Thr226Asn)
 gnomAD v4
8g.38144361T>ACA370696039STARc.770A>T (p.Asn257Ile)
n.2739A>T
c.612A>T
c.676A>T (p.Thr226Ser)
8g.38144361T>CCA370696043STARc.770A>G (p.Asn257Ser)
n.2739A>G
c.612A>G
c.676A>G (p.Thr226Ala)
 gnomAD v4
8g.38144361T>GCA370696040STARc.770A>C (p.Asn257Thr)
n.2739A>C
c.612A>C
c.676A>C (p.Thr226Pro)
8g.38144362T>ACA4715132STARc.769A>T (p.Asn257Tyr)
n.2738A>T
c.611A>T
c.675A>T (p.Ser225=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144362T>CCA370696052STARc.769A>G (p.Asn257Asp)
n.2738A>G
c.611A>G
c.675A>G (p.Ser225=)
8g.38144362T>GCA370696055STARc.769A>C (p.Asn257His)
n.2738A>C
c.611A>C
c.675A>C (p.Ser225=)
8g.38144362T=CA1777409304STARc.769A= (p.Asn257=)
n.2738A=
c.611A=
c.675A= (p.Ser225=)
8g.38144367_38144369delCA2686931637STARc.767_769del (p.Ile256del)
n.2736_2738del
c.609_611del
c.673_675del (p.Ser225del)
 gnomAD v4
8g.38144363G>ACA460374967STARc.768C>T (p.Ile256=)
n.2737C>T
c.610C>T
c.674C>T (p.Ser225Leu)
 dbSNP gnomAD v2
8g.38144363G>CCA370696056STARc.768C>G (p.Ile256Met)
n.2737C>G
c.610C>G
c.674C>G (p.Ser225Ter)
8g.38144363G=CA1777409305STARc.768C= (p.Ile256=)
n.2737C=
c.610C=
c.674C= (p.Ser225=)
8g.38144363G>TCA460374968STARc.768C>A (p.Ile256=)
n.2737C>A
c.610C>A
c.674C>A (p.Ser225Ter)
8g.38144364A>CCA370696057STARc.767T>G (p.Ile256Ser)
n.2736T>G
c.609T>G
c.673T>G (p.Ser225Ala)
8g.38144364A>GCA370696064STARc.767T>C (p.Ile256Thr)
n.2736T>C
c.609T>C
c.673T>C (p.Ser225Pro)
8g.38144364A>TCA370696061STARc.767T>A (p.Ile256Asn)
n.2736T>A
c.609T>A
c.673T>A (p.Ser225Thr)
8g.38144365T>ACA370696067STARc.766A>T (p.Ile256Phe)
n.2735A>T
c.608A>T
c.672A>T (p.Ser224=)
8g.38144365T>CCA370696069STARc.766A>G (p.Ile256Val)
n.2735A>G
c.608A>G
c.672A>G (p.Ser224=)
8g.38144365T>GCA370696072STARc.766A>C (p.Ile256Leu)
n.2735A>C
c.608A>C
c.672A>C (p.Ser224=)
8g.38144366G>ACA460374969STARc.765C>T (p.Ile255=)
n.2734C>T
c.607C>T
c.671C>T (p.Ser224Leu)
 dbSNP gnomAD v2
8g.38144366G>CCA370696074STARc.765C>G (p.Ile255Met)
n.2734C>G
c.607C>G
c.671C>G (p.Ser224Ter)
8g.38144366G=CA1777409306STARc.765C= (p.Ile255=)
n.2734C=
c.607C=
c.671C= (p.Ser224=)
8g.38144366G>TCA460374970STARc.765C>A (p.Ile255=)
n.2734C>A
c.607C>A
c.671C>A (p.Ser224Ter)
 ClinVar dbSNP gnomAD v4
8g.38144367A>CCA370696075STARc.764T>G (p.Ile255Ser)
n.2733T>G
c.606T>G
c.670T>G (p.Ser224Ala)
8g.38144367A>GCA370696076STARc.764T>C (p.Ile255Thr)
n.2733T>C
c.606T>C
c.670T>C (p.Ser224Pro)
8g.38144367A>TCA370696079STARc.764T>A (p.Ile255Asn)
n.2733T>A
c.606T>A
c.670T>A (p.Ser224Thr)
8g.38144368T>ACA370696092STARc.763A>T (p.Ile255Phe)
n.2732A>T
c.605A>T
c.669A>T (p.Ala223=)
8g.38144368T>CCA370696095STARc.763A>G (p.Ile255Val)
n.2732A>G
c.605A>G
c.669A>G (p.Ala223=)
 gnomAD v4
8g.38144368T>GCA370696103STARc.763A>C (p.Ile255Leu)
n.2732A>C
c.605A>C
c.669A>C (p.Ala223=)
8g.38144369G>ACA460374971STARc.762C>T (p.Ser254=)
n.2731C>T
c.604C>T
c.668C>T (p.Ala223Val)
 gnomAD v4
8g.38144369G>CCA370696106STARc.762C>G (p.Ser254Arg)
n.2731C>G
c.604C>G
c.668C>G (p.Ala223Gly)
8g.38144369G>TCA370696107STARc.762C>A (p.Ser254Arg)
n.2731C>A
c.604C>A
c.668C>A (p.Ala223Glu)
8g.38144370C>ACA370696109STARc.761G>T (p.Ser254Ile)
n.2730G>T
c.603G>T
c.667G>T (p.Ala223Ser)
 gnomAD v4
8g.38144370C>GCA370696113STARc.761G>C (p.Ser254Thr)
n.2730G>C
c.603G>C
c.667G>C (p.Ala223Pro)
8g.38144370C>TCA370696111STARc.761G>A (p.Ser254Asn)
n.2730G>A
c.603G>A
c.667G>A (p.Ala223Thr)
 gnomAD v4
8g.38144371T>ACA370696116STARc.760A>T (p.Ser254Cys)
n.2729A>T
c.602A>T
c.666A>T (p.Arg222Ser)
8g.38144371T>CCA370696118STARc.760A>G (p.Ser254Gly)
n.2729A>G
c.602A>G
c.666A>G (p.Arg222=)
 gnomAD v4
8g.38144371T>GCA370696117STARc.760A>C (p.Ser254Arg)
n.2729A>C
c.602A>C
c.666A>C (p.Arg222Ser)
8g.38144372C>ACA370696119STARc.759G>T (p.Lys253Asn)
n.2728G>T
c.601G>T
c.665G>T (p.Arg222Ile)
8g.38144372C=CA1777409308STARc.759G= (p.Lys253=)
n.2728G=
c.601G=
c.665G= (p.Arg222=)
8g.38144372C>GCA370696128STARc.759G>C (p.Lys253Asn)
n.2728G>C
c.601G>C
c.665G>C (p.Arg222Thr)
8g.38144372C>TCA4715133STARc.759G>A (p.Lys253=)
n.2728G>A
c.601G>A
c.665G>A (p.Arg222Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144374_38144388delCA913141654STARc.745_759del
n.2714_2728del
c.587_601del
c.651_665del
8g.38144373T>ACA370696131STARc.758A>T (p.Lys253Met)
n.2727A>T
c.600A>T
c.664A>T (p.Arg222Ter)
8g.38144373T>CCA370696136STARc.758A>G (p.Lys253Arg)
n.2727A>G
c.600A>G
c.664A>G (p.Arg222Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.38144373T>GCA370696135STARc.758A>C (p.Lys253Thr)
n.2727A>C
c.600A>C
c.664A>C (p.Arg222=)
8g.38144373T=CA1777409312STARc.758A= (p.Lys253=)
n.2727A=
c.600A=
c.664A= (p.Arg222=)
8g.38144373_38144387delinsTTGGGCAGCCACCCCCA1777409313STARc.745-1_758delinsGGGGTGGCTGCCCAA
n.2713_2727delinsGGGGTGGCTGCCCAA
c.587-1_600delinsGGGGTGGCTGCCCAA
c.651-1_664delinsGGGGTGGCTGCCCAA
8g.38144374T>ACA370696147STARc.757A>T (p.Lys253Ter)
n.2726A>T
c.599A>T
c.663A>T (p.Pro221=)
8g.38144374T>CCA370696154STARc.757A>G (p.Lys253Glu)
n.2726A>G
c.599A>G
c.663A>G (p.Pro221=)
8g.38144374T>GCA370696152STARc.757A>C (p.Lys253Gln)
n.2726A>C
c.599A>C
c.663A>C (p.Pro221=)
8g.38144376_38144389delCA658822460STARc.745-1_757del
n.2713_2726del
c.587-1_599del
c.651-1_663del
 ClinVar dbSNP
8g.38144375G>ACA460374972STARc.756C>T (p.Pro252=)
n.2725C>T
c.598C>T
c.662C>T (p.Pro221Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.38144375G>CCA460374973STARc.756C>G (p.Pro252=)
n.2725C>G
c.598C>G
c.662C>G (p.Pro221Arg)
8g.38144375G=CA1777409316STARc.756C= (p.Pro252=)
n.2725C=
c.598C=
c.662C= (p.Pro221=)
8g.38144375G>TCA460374974STARc.756C>A (p.Pro252=)
n.2725C>A
c.598C>A
c.662C>A (p.Pro221Gln)
 gnomAD v4
8g.38144377delCA2686931638STARc.756del (p.Lys253ArgfsTer?)
n.2725del
c.598del
c.662del (p.Pro221GlnfsTer30)
 gnomAD v4
8g.38144376G>ACA370696164STARc.755C>T (p.Pro252Leu)
n.2724C>T
c.597C>T
c.661C>T (p.Pro221Ser)
8g.38144376G>CCA370696178STARc.755C>G (p.Pro252Arg)
n.2724C>G
c.597C>G
c.661C>G (p.Pro221Ala)
8g.38144376G>TCA370696177STARc.755C>A (p.Pro252His)
n.2724C>A
c.597C>A
c.661C>A (p.Pro221Thr)
8g.38144377G>ACA370696186STARc.754C>T (p.Pro252Ser)
n.2723C>T
c.596C>T
c.660C>T (p.Cys220=)
 dbSNP gnomAD v2 gnomAD v4
8g.38144377G>CCA370696189STARc.754C>G (p.Pro252Ala)
n.2723C>G
c.596C>G
c.660C>G (p.Cys220Trp)
8g.38144377G=CA1777409318STARc.754C= (p.Pro252=)
n.2723C=
c.596C=
c.660C= (p.Cys220=)
8g.38144377G>TCA370696192STARc.754C>A (p.Pro252Thr)
n.2723C>A
c.596C>A
c.660C>A (p.Cys220Ter)
8g.38144378C>ACA460374976STARc.753G>T (p.Leu251=)
n.2722G>T
c.595G>T
c.659G>T (p.Cys220Phe)
 dbSNP gnomAD v4
8g.38144378C=CA1777409321STARc.753G= (p.Leu251=)
n.2722G=
c.595G=
c.659G= (p.Cys220=)
8g.38144378C>GCA460374975STARc.753G>C (p.Leu251=)
n.2722G>C
c.595G>C
c.659G>C (p.Cys220Ser)
8g.38144378C>TCA4715134STARc.753G>A (p.Leu251=)
n.2722G>A
c.595G>A
c.659G>A (p.Cys220Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144379A>CCA370696197STARc.752T>G (p.Leu251Arg)
n.2721T>G
c.594T>G
c.658T>G (p.Cys220Gly)
 gnomAD v4
8g.38144379A>GCA370696202STARc.752T>C (p.Leu251Pro)
n.2721T>C
c.594T>C
c.658T>C (p.Cys220Arg)
8g.38144379A>TCA370696208STARc.752T>A (p.Leu251Gln)
n.2721T>A
c.594T>A
c.658T>A (p.Cys220Ser)
8g.38144380G>ACA460374977STARc.751C>T (p.Leu251=)
n.2720C>T
c.593C>T
c.657C>T (p.Gly219=)
 dbSNP gnomAD v2 gnomAD v4
8g.38144380G>CCA370696222STARc.751C>G (p.Leu251Val)
n.2720C>G
c.593C>G
c.657C>G (p.Gly219=)
8g.38144380G=CA1777409322STARc.751C= (p.Leu251=)
n.2720C=
c.593C=
c.657C= (p.Gly219=)
8g.38144380G>TCA370696231STARc.751C>A (p.Leu251Met)
n.2720C>A
c.593C>A
c.657C>A (p.Gly219=)
 gnomAD v4
8g.38144381C>ACA370696236STARc.750G>T (p.Trp250Cys)
n.2719G>T
c.592G>T
c.656G>T (p.Gly219Val)
 gnomAD v4
8g.38144381C=CA1777409323STARc.750G= (p.Trp250=)
n.2719G=
c.592G=
c.656G= (p.Gly219=)
8g.38144381C>GCA370696237STARc.750G>C (p.Trp250Cys)
n.2719G>C
c.592G>C
c.656G>C (p.Gly219Ala)
 gnomAD v4
8g.38144381C>TCA370696238STARc.750G>A (p.Trp250Ter)
n.2719G>A
c.592G>A
c.656G>A (p.Gly219Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.38144382C>ACA370696239STARc.749G>T (p.Trp250Leu)
n.2718G>T
c.591G>T
c.655G>T (p.Gly219Cys)
 gnomAD v4
8g.38144382C=CA1777409325STARc.749G= (p.Trp250=)
n.2718G=
c.591G=
c.655G= (p.Gly219=)
8g.38144382C>GCA370696256STARc.749G>C (p.Trp250Ser)
n.2718G>C
c.591G>C
c.655G>C (p.Gly219Arg)
 gnomAD v4
8g.38144382C>TCA120037STARc.749G>A (p.Trp250Ter)
n.2718G>A
c.591G>A
c.655G>A (p.Gly219Ser)
 ClinVar dbSNP gnomAD v4
8g.38144383A>CCA370696262STARc.748T>G (p.Trp250Gly)
n.2717T>G
c.590T>G
c.654T>G (p.Gly218=)
8g.38144383A>GCA370696276STARc.748T>C (p.Trp250Arg)
n.2717T>C
c.590T>C
c.654T>C (p.Gly218=)
8g.38144383A>TCA370696279STARc.748T>A (p.Trp250Arg)
n.2717T>A
c.590T>A
c.654T>A (p.Gly218=)
8g.38144384C>ACA460374978STARc.747G>T (p.Gly249=)
n.2716G>T
c.589G>T
c.653G>T (p.Gly218Val)
 gnomAD v4
8g.38144384C>GCA460374979STARc.747G>C (p.Gly249=)
n.2716G>C
c.589G>C
c.653G>C (p.Gly218Ala)
8g.38144384C>TCA460374980STARc.747G>A (p.Gly249=)
n.2716G>A
c.589G>A
c.653G>A (p.Gly218Asp)
 gnomAD v4
8g.38144385C>ACA370696281STARc.746G>T (p.Gly249Val)
n.2715G>T
c.588G>T
c.652G>T (p.Gly218Cys)
 gnomAD v4
8g.38144385C>GCA370696282STARc.746G>C (p.Gly249Ala)
n.2715G>C
c.588G>C
c.652G>C (p.Gly218Arg)
8g.38144385C>TCA370696284STARc.746G>A (p.Gly249Glu)
n.2715G>A
c.588G>A
c.652G>A (p.Gly218Ser)
8g.38144386C>ACA370696308STARc.745G>T (p.Gly249Trp)
n.2714G>T
c.587G>T
c.651G>T (p.Arg217Ser)
 gnomAD v4
8g.38144386C>GCA370696311STARc.745G>C (p.Gly249Arg)
n.2714G>C
c.587G>C
c.651G>C (p.Arg217Ser)
8g.38144386C>TCA370696319STARc.745G>A (p.Gly249Arg)
n.2714G>A
c.587G>A
c.651G>A (p.Arg217=)
 gnomAD v4
8g.38144386_38144387delinsTTCA2573142681STARc.745-1_745delinsAA
n.2713_2714delinsAA
c.587-1_587delinsAA
c.651-1_651delinsAA
 ClinVar dbSNP
8g.38144387C>ACA370696329STARc.745-1G>T (n.745-1G>T)
n.2713G>T
c.587-1G>T
c.651-1G>T (n.651-1G>T)
8g.38144387C=CA1777409328STARc.745-1G= (n.745-1G=)
n.2713G=
c.587-1G=
c.651-1G= (n.651-1G=)
8g.38144387C>GCA175091189STARc.745-1G>C (n.745-1G>C)
n.2713G>C
c.587-1G>C
c.651-1G>C (n.651-1G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144387C>TCA370696324STARc.745-1G>A (n.745-1G>A)
n.2713G>A
c.587-1G>A
c.651-1G>A (n.651-1G>A)
 gnomAD v4
8g.38144388T>ACA370696330STARc.745-2A>T (n.745-2A>T)
n.2712A>T
c.587-2A>T
c.651-2A>T (n.651-2A>T)
8g.38144388T>CCA370696334STARc.745-2A>G (n.745-2A>G)
n.2712A>G
c.587-2A>G
c.651-2A>G (n.651-2A>G)
 gnomAD v4
8g.38144388T>GCA370696351STARc.745-2A>C (n.745-2A>C)
n.2712A>C
c.587-2A>C
c.651-2A>C (n.651-2A>C)
8g.38144389G>ACA2686931639STARc.745-3C>T (n.745-3C>T)
n.2711C>T
c.587-3C>T
c.651-3C>T (n.651-3C>T)
 gnomAD v4
8g.38144389G>TCA2686931640STARc.745-3C>A (n.745-3C>A)
n.2711C>A
c.587-3C>A
c.651-3C>A (n.651-3C>A)
 gnomAD v4
8g.38144390C>ACA2686931641STARc.745-4G>T (n.745-4G>T)
n.2710G>T
c.587-4G>T
c.651-4G>T (n.651-4G>T)
 gnomAD v4
8g.38144390C=CA1777409331STARc.745-4G= (n.745-4G=)
n.2710G=
c.587-4G=
c.651-4G= (n.651-4G=)
8g.38144390C>TCA2686931642STARc.745-4G>A (n.745-4G>A)
n.2710G>A
c.587-4G>A
c.651-4G>A (n.651-4G>A)
 gnomAD v4
8g.38144391A>GCA2686931643STARc.745-5T>C (n.745-5T>C)
n.2709T>C
c.587-5T>C
c.651-5T>C (n.651-5T>C)
 gnomAD v4
8g.38144391dupCA1777409332STARc.745-5dup (n.745-5dup)
n.2709dup
c.587-5dup
c.651-5dup (n.651-5dup)
 dbSNP
8g.38144392G>ACA581109611STARc.745-6C>T (n.745-6C>T)
n.2708C>T
c.587-6C>T
c.651-6C>T (n.651-6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.38144392G>CCA851456401STARc.745-6C>G (n.745-6C>G)
n.2708C>G
c.587-6C>G
c.651-6C>G (n.651-6C>G)
 dbSNP
8g.38144392G=CA1777409334STARc.745-6C= (n.745-6C=)
n.2708C=
c.587-6C=
c.651-6C= (n.651-6C=)
8g.38144392G>TCA2686931644STARc.745-6C>A (n.745-6C>A)
n.2708C>A
c.587-6C>A
c.651-6C>A (n.651-6C>A)
 gnomAD v4
8g.38144393T>CCA2686931645STARc.745-7A>G (n.745-7A>G)
n.2707A>G
c.587-7A>G
c.651-7A>G (n.651-7A>G)
 gnomAD v4
8g.38144394A>GCA2686931646STARc.745-8T>C (n.745-8T>C)
n.2706T>C
c.587-8T>C
c.651-8T>C (n.651-8T>C)
 gnomAD v4
8g.38144395G>ACA2573142682STARc.745-9C>T (n.745-9C>T)
n.2705C>T
c.587-9C>T
c.651-9C>T (n.651-9C>T)
 ClinVar dbSNP
8g.38144396G>ACA581109613STARc.745-10C>T (n.745-10C>T)
n.2704C>T
c.587-10C>T
c.651-10C>T (n.651-10C>T)
 dbSNP gnomAD v2
8g.38144396G=CA1777409336STARc.745-10C= (n.745-10C=)
n.2704C=
c.587-10C=
c.651-10C= (n.651-10C=)
8g.38144397A>GCA2841816431STARc.745-11T>C (n.745-11T>C)
n.2703T>C
c.587-11T>C
c.651-11T>C (n.651-11T>C)
8g.38144398G>ACA1777409338STARc.745-12C>T (n.745-12C>T)
n.2702C>T
c.587-12C>T
c.651-12C>T (n.651-12C>T)
 ClinVar dbSNP gnomAD v4
8g.38144398G=CA1777409337STARc.745-12C= (n.745-12C=)
n.2702C=
c.587-12C=
c.651-12C= (n.651-12C=)
8g.38144398G>TCA2686931647STARc.745-12C>A (n.745-12C>A)
n.2702C>A
c.587-12C>A
c.651-12C>A (n.651-12C>A)
 gnomAD v4
8g.38144399G>ACA2686931648STARc.745-13C>T (n.745-13C>T)
n.2701C>T
c.587-13C>T
c.651-13C>T (n.651-13C>T)
 gnomAD v4
8g.38144399G>TCA2841816432STARc.745-13C>A (n.745-13C>A)
n.2701C>A
c.587-13C>A
c.651-13C>A (n.651-13C>A)
8g.38144400T>CCA2686931649STARc.745-14A>G (n.745-14A>G)
n.2700A>G
c.587-14A>G
c.651-14A>G (n.651-14A>G)
 gnomAD v4
8g.38144401delCA2686931650STARc.745-15del (n.745-15del)
n.2699del
c.587-15del
c.651-15del (n.651-15del)
 gnomAD v4
8g.38144401A>GCA2686931651STARc.745-15T>C (n.745-15T>C)
n.2699T>C
c.587-15T>C
c.651-15T>C (n.651-15T>C)
 gnomAD v4
8g.38144402G>ACA1777409341STARc.745-16C>T (n.745-16C>T)
n.2698C>T
c.587-16C>T
c.651-16C>T (n.651-16C>T)
 ClinVar dbSNP gnomAD v4
8g.38144402G=CA1777409340STARc.745-16C= (n.745-16C=)
n.2698C=
c.587-16C=
c.651-16C= (n.651-16C=)
8g.38144403G>TCA2686931652STARc.745-17C>A (n.745-17C>A)
n.2697C>A
c.587-17C>A
c.651-17C>A (n.651-17C>A)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched