Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.38351247A>CCA391933543SPRED1c.918A>C (p.Lys306Asn)
c.954A>C (p.Lys318Asn)
c.696A>C (p.Lys232Asn)
c.855A>C (p.Lys285Asn)
15g.38351247A>GCA490012225SPRED1c.918A>G (p.Lys306=)
c.954A>G (p.Lys318=)
c.696A>G (p.Lys232=)
c.855A>G (p.Lys285=)
15g.38351247A>TCA391933544SPRED1c.918A>T (p.Lys306Asn)
c.954A>T (p.Lys318Asn)
c.696A>T (p.Lys232Asn)
c.855A>T (p.Lys285Asn)
15g.38351248G>ACA391933545SPRED1c.919G>A (p.Asp307Asn)
c.955G>A (p.Asp319Asn)
c.697G>A (p.Asp233Asn)
c.856G>A (p.Asp286Asn)
15g.38351248G>CCA391933546SPRED1c.919G>C (p.Asp307His)
c.955G>C (p.Asp319His)
c.697G>C (p.Asp233His)
c.856G>C (p.Asp286His)
15g.38351248G>TCA391933547SPRED1c.919G>T (p.Asp307Tyr)
c.955G>T (p.Asp319Tyr)
c.697G>T (p.Asp233Tyr)
c.856G>T (p.Asp286Tyr)
15g.38351249A=CA2170812633SPRED1c.920A= (p.Asp307=)
c.956A= (p.Asp319=)
c.698A= (p.Asp233=)
c.857A= (p.Asp286=)
15g.38351249A>CCA391933548SPRED1c.920A>C (p.Asp307Ala)
c.956A>C (p.Asp319Ala)
c.698A>C (p.Asp233Ala)
c.857A>C (p.Asp286Ala)
15g.38351249A>GCA7470203SPRED1c.920A>G (p.Asp307Gly)
c.956A>G (p.Asp319Gly)
c.698A>G (p.Asp233Gly)
c.857A>G (p.Asp286Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351249A>TCA391933549SPRED1c.920A>T (p.Asp307Val)
c.956A>T (p.Asp319Val)
c.698A>T (p.Asp233Val)
c.857A>T (p.Asp286Val)
15g.38351249_38351251delinsACTCA2170812634SPRED1c.920_922delinsACT (p.Asp307=)
c.956_958delinsACT (p.Asp319=)
c.698_700delinsACT (p.Asp233=)
c.857_859delinsACT (p.Asp286=)
15g.38351250C>ACA391933550SPRED1c.921C>A (p.Asp307Glu)
c.957C>A (p.Asp319Glu)
c.699C>A (p.Asp233Glu)
c.858C>A (p.Asp286Glu)
15g.38351250C>GCA391933551SPRED1c.921C>G (p.Asp307Glu)
c.957C>G (p.Asp319Glu)
c.699C>G (p.Asp233Glu)
c.858C>G (p.Asp286Glu)
15g.38351250C>TCA490012234SPRED1c.921C>T (p.Asp307=)
c.957C>T (p.Asp319=)
c.699C>T (p.Asp233=)
c.858C>T (p.Asp286=)
15g.38351252_38351253delCA658658281SPRED1c.923_924del (p.Ser308CysfsTer4)
c.959_960del (p.Ser320CysfsTer4)
c.701_702del (p.Ser234CysfsTer4)
c.860_861del (p.Ser287CysfsTer4)
ClinVar dbSNP
15g.38351251T>ACA7470205SPRED1c.922T>A (p.Ser308Thr)
c.958T>A (p.Ser320Thr)
c.700T>A (p.Ser234Thr)
c.859T>A (p.Ser287Thr)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
15g.38351251T>CCA391933552SPRED1c.922T>C (p.Ser308Pro)
c.958T>C (p.Ser320Pro)
c.700T>C (p.Ser234Pro)
c.859T>C (p.Ser287Pro)
dbSNP
15g.38351251T>GCA7470204SPRED1c.922T>G (p.Ser308Ala)
c.958T>G (p.Ser320Ala)
c.700T>G (p.Ser234Ala)
c.859T>G (p.Ser287Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351251T=CA2170812635SPRED1c.922T= (p.Ser308=)
c.958T= (p.Ser320=)
c.700T= (p.Ser234=)
c.859T= (p.Ser287=)
15g.38351253_38351276delCA2627716206SPRED1c.924_947del (p.Val309_Ser316del)
c.960_983del (p.Val321_Ser328del)
c.702_725del (p.Val235_Ser242del)
c.861_884del (p.Val288_Ser295del)
gnomAD v4
15g.38351252C>ACA391933553SPRED1c.923C>A (p.Ser308Tyr)
c.959C>A (p.Ser320Tyr)
c.701C>A (p.Ser234Tyr)
c.860C>A (p.Ser287Tyr)
15g.38351252C>GCA391933554SPRED1c.923C>G (p.Ser308Cys)
c.959C>G (p.Ser320Cys)
c.701C>G (p.Ser234Cys)
c.860C>G (p.Ser287Cys)
15g.38351252C>TCA391933555SPRED1c.923C>T (p.Ser308Phe)
c.959C>T (p.Ser320Phe)
c.701C>T (p.Ser234Phe)
c.860C>T (p.Ser287Phe)
gnomAD v4
15g.38351253T>ACA490012241SPRED1c.924T>A (p.Ser308=)
c.960T>A (p.Ser320=)
c.702T>A (p.Ser234=)
c.861T>A (p.Ser287=)
15g.38351253T>CCA490012243SPRED1c.924T>C (p.Ser308=)
c.960T>C (p.Ser320=)
c.702T>C (p.Ser234=)
c.861T>C (p.Ser287=)
15g.38351253T>GCA490012246SPRED1c.924T>G (p.Ser308=)
c.960T>G (p.Ser320=)
c.702T>G (p.Ser234=)
c.861T>G (p.Ser287=)
15g.38351255_38351256delCA2580613792SPRED1c.926_927del (p.Val309GlyfsTer3)
c.962_963del (p.Val321GlyfsTer3)
c.704_705del (p.Val235GlyfsTer3)
c.863_864del (p.Val288GlyfsTer3)
ClinVar dbSNP gnomAD v4
15g.38351254G>ACA391933556SPRED1c.925G>A (p.Val309Met)
c.961G>A (p.Val321Met)
c.703G>A (p.Val235Met)
c.862G>A (p.Val288Met)
15g.38351254G>CCA391933557SPRED1c.925G>C (p.Val309Leu)
c.961G>C (p.Val321Leu)
c.703G>C (p.Val235Leu)
c.862G>C (p.Val288Leu)
gnomAD v4
15g.38351254G>TCA391933558SPRED1c.925G>T (p.Val309Leu)
c.961G>T (p.Val321Leu)
c.703G>T (p.Val235Leu)
c.862G>T (p.Val288Leu)
15g.38351255T>ACA391933559SPRED1c.926T>A (p.Val309Glu)
c.962T>A (p.Val321Glu)
c.704T>A (p.Val235Glu)
c.863T>A (p.Val288Glu)
15g.38351255T>CCA181530SPRED1c.926T>C (p.Val309Ala)
c.962T>C (p.Val321Ala)
c.704T>C (p.Val235Ala)
c.863T>C (p.Val288Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351255T>GCA391933560SPRED1c.926T>G (p.Val309Gly)
c.962T>G (p.Val321Gly)
c.704T>G (p.Val235Gly)
c.863T>G (p.Val288Gly)
15g.38351255T=CA2170812636SPRED1c.926T= (p.Val309=)
c.962T= (p.Val321=)
c.704T= (p.Val235=)
c.863T= (p.Val288=)
15g.38351256G>ACA490012250SPRED1c.927G>A (p.Val309=)
c.963G>A (p.Val321=)
c.705G>A (p.Val235=)
c.864G>A (p.Val288=)
15g.38351256G>CCA490012253SPRED1c.927G>C (p.Val309=)
c.963G>C (p.Val321=)
c.705G>C (p.Val235=)
c.864G>C (p.Val288=)
15g.38351256G>TCA490012255SPRED1c.927G>T (p.Val309=)
c.963G>T (p.Val321=)
c.705G>T (p.Val235=)
c.864G>T (p.Val288=)
15g.38351257G>ACA269293450SPRED1c.928G>A (p.Val310Ile)
c.964G>A (p.Val322Ile)
c.706G>A (p.Val236Ile)
c.865G>A (p.Val289Ile)
dbSNP
15g.38351257G>CCA391933561SPRED1c.928G>C (p.Val310Leu)
c.964G>C (p.Val322Leu)
c.706G>C (p.Val236Leu)
c.865G>C (p.Val289Leu)
15g.38351257G=CA2170812637SPRED1c.928G= (p.Val310=)
c.964G= (p.Val322=)
c.706G= (p.Val236=)
c.865G= (p.Val289=)
15g.38351257G>TCA391933562SPRED1c.928G>T (p.Val310Leu)
c.964G>T (p.Val322Leu)
c.706G>T (p.Val236Leu)
c.865G>T (p.Val289Leu)
15g.38351258T>ACA391933565SPRED1c.929T>A (p.Val310Glu)
c.965T>A (p.Val322Glu)
c.707T>A (p.Val236Glu)
c.866T>A (p.Val289Glu)
15g.38351258T>CCA391933564SPRED1c.929T>C (p.Val310Ala)
c.965T>C (p.Val322Ala)
c.707T>C (p.Val236Ala)
c.866T>C (p.Val289Ala)
gnomAD v4
15g.38351258T>GCA391933563SPRED1c.929T>G (p.Val310Gly)
c.965T>G (p.Val322Gly)
c.707T>G (p.Val236Gly)
c.866T>G (p.Val289Gly)
15g.38351259A=CA2170812638SPRED1c.930A= (p.Val310=)
c.966A= (p.Val322=)
c.708A= (p.Val236=)
c.867A= (p.Val289=)
15g.38351259A>CCA490012258SPRED1c.930A>C (p.Val310=)
c.966A>C (p.Val322=)
c.708A>C (p.Val236=)
c.867A>C (p.Val289=)
15g.38351259A>GCA490012259SPRED1c.930A>G (p.Val310=)
c.966A>G (p.Val322=)
c.708A>G (p.Val236=)
c.867A>G (p.Val289=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351259A>TCA490012257SPRED1c.930A>T (p.Val310=)
c.966A>T (p.Val322=)
c.708A>T (p.Val236=)
c.867A>T (p.Val289=)
15g.38351260T>ACA391933566SPRED1c.931T>A (p.Phe311Ile)
c.967T>A (p.Phe323Ile)
c.709T>A (p.Phe237Ile)
c.868T>A (p.Phe290Ile)
COSMIC
15g.38351260T>CCA269293451SPRED1c.931T>C (p.Phe311Leu)
c.967T>C (p.Phe323Leu)
c.709T>C (p.Phe237Leu)
c.868T>C (p.Phe290Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38351260T>GCA391933567SPRED1c.931T>G (p.Phe311Val)
c.967T>G (p.Phe323Val)
c.709T>G (p.Phe237Val)
c.868T>G (p.Phe290Val)
15g.38351260T=CA2170812639SPRED1c.931T= (p.Phe311=)
c.967T= (p.Phe323=)
c.709T= (p.Phe237=)
c.868T= (p.Phe290=)
15g.38351261_38351262delCA2580089327SPRED1c.932_933del (p.Phe311Ter)
c.968_969del (p.Phe323Ter)
c.710_711del (p.Phe237Ter)
c.869_870del (p.Phe290Ter)
ClinVar
15g.38351261T>ACA391933568SPRED1c.932T>A (p.Phe311Tyr)
c.968T>A (p.Phe323Tyr)
c.710T>A (p.Phe237Tyr)
c.869T>A (p.Phe290Tyr)
15g.38351261T>CCA391933569SPRED1c.932T>C (p.Phe311Ser)
c.968T>C (p.Phe323Ser)
c.710T>C (p.Phe237Ser)
c.869T>C (p.Phe290Ser)
15g.38351261T>GCA391933570SPRED1c.932T>G (p.Phe311Cys)
c.968T>G (p.Phe323Cys)
c.710T>G (p.Phe237Cys)
c.869T>G (p.Phe290Cys)
15g.38351262T>ACA391933571SPRED1c.933T>A (p.Phe311Leu)
c.969T>A (p.Phe323Leu)
c.711T>A (p.Phe237Leu)
c.870T>A (p.Phe290Leu)
15g.38351262T>CCA16606924SPRED1c.933T>C (p.Phe311=)
c.969T>C (p.Phe323=)
c.711T>C (p.Phe237=)
c.870T>C (p.Phe290=)
ClinVar dbSNP
15g.38351262T>GCA391933572SPRED1c.933T>G (p.Phe311Leu)
c.969T>G (p.Phe323Leu)
c.711T>G (p.Phe237Leu)
c.870T>G (p.Phe290Leu)
15g.38351262T=CA2170812640SPRED1c.933T= (p.Phe311=)
c.969T= (p.Phe323=)
c.711T= (p.Phe237=)
c.870T= (p.Phe290=)
15g.38351263A>CCA391933573SPRED1c.934A>C (p.Lys312Gln)
c.970A>C (p.Lys324Gln)
c.712A>C (p.Lys238Gln)
c.871A>C (p.Lys291Gln)
15g.38351263A>GCA391933574SPRED1c.934A>G (p.Lys312Glu)
c.970A>G (p.Lys324Glu)
c.712A>G (p.Lys238Glu)
c.871A>G (p.Lys291Glu)
15g.38351263A>TCA391933575SPRED1c.934A>T (p.Lys312Ter)
c.970A>T (p.Lys324Ter)
c.712A>T (p.Lys238Ter)
c.871A>T (p.Lys291Ter)
15g.38351264A>CCA391933576SPRED1c.935A>C (p.Lys312Thr)
c.971A>C (p.Lys324Thr)
c.713A>C (p.Lys238Thr)
c.872A>C (p.Lys291Thr)
15g.38351264A>GCA391933577SPRED1c.935A>G (p.Lys312Arg)
c.971A>G (p.Lys324Arg)
c.713A>G (p.Lys238Arg)
c.872A>G (p.Lys291Arg)
COSMIC
15g.38351264A>TCA391933578SPRED1c.935A>T (p.Lys312Met)
c.971A>T (p.Lys324Met)
c.713A>T (p.Lys238Met)
c.872A>T (p.Lys291Met)
15g.38351265G>ACA490012268SPRED1c.936G>A (p.Lys312=)
c.972G>A (p.Lys324=)
c.714G>A (p.Lys238=)
c.873G>A (p.Lys291=)
15g.38351265G>CCA391933579SPRED1c.936G>C (p.Lys312Asn)
c.972G>C (p.Lys324Asn)
c.714G>C (p.Lys238Asn)
c.873G>C (p.Lys291Asn)
15g.38351265G>TCA391933580SPRED1c.936G>T (p.Lys312Asn)
c.972G>T (p.Lys324Asn)
c.714G>T (p.Lys238Asn)
c.873G>T (p.Lys291Asn)
15g.38351266A>CCA391933581SPRED1c.937A>C (p.Thr313Pro)
c.973A>C (p.Thr325Pro)
c.715A>C (p.Thr239Pro)
c.874A>C (p.Thr292Pro)
15g.38351266A>GCA391933583SPRED1c.937A>G (p.Thr313Ala)
c.973A>G (p.Thr325Ala)
c.715A>G (p.Thr239Ala)
c.874A>G (p.Thr292Ala)
15g.38351266A>TCA391933582SPRED1c.937A>T (p.Thr313Ser)
c.973A>T (p.Thr325Ser)
c.715A>T (p.Thr239Ser)
c.874A>T (p.Thr292Ser)
15g.38351267C>ACA391933584SPRED1c.938C>A (p.Thr313Lys)
c.974C>A (p.Thr325Lys)
c.716C>A (p.Thr239Lys)
c.875C>A (p.Thr292Lys)
15g.38351267C=CA2170812641SPRED1c.938C= (p.Thr313=)
c.974C= (p.Thr325=)
c.716C= (p.Thr239=)
c.875C= (p.Thr292=)
15g.38351267C>GCA391933585SPRED1c.938C>G (p.Thr313Arg)
c.974C>G (p.Thr325Arg)
c.716C>G (p.Thr239Arg)
c.875C>G (p.Thr292Arg)
15g.38351267C>TCA7470206SPRED1c.938C>T (p.Thr313Met)
c.974C>T (p.Thr325Met)
c.716C>T (p.Thr239Met)
c.875C>T (p.Thr292Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351268G>ACA7470207SPRED1c.939G>A (p.Thr313=)
c.975G>A (p.Thr325=)
c.717G>A (p.Thr239=)
c.876G>A (p.Thr292=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351268G>CCA490012272SPRED1c.939G>C (p.Thr313=)
c.975G>C (p.Thr325=)
c.717G>C (p.Thr239=)
c.876G>C (p.Thr292=)
15g.38351268G=CA2170812642SPRED1c.939G= (p.Thr313=)
c.975G= (p.Thr325=)
c.717G= (p.Thr239=)
c.876G= (p.Thr292=)
15g.38351268G>TCA7470208SPRED1c.939G>T (p.Thr313=)
c.975G>T (p.Thr325=)
c.717G>T (p.Thr239=)
c.876G>T (p.Thr292=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351269C>ACA391933586SPRED1c.940C>A (p.Gln314Lys)
c.976C>A (p.Gln326Lys)
c.718C>A (p.Gln240Lys)
c.877C>A (p.Gln293Lys)
gnomAD v4
15g.38351269C>GCA391933587SPRED1c.940C>G (p.Gln314Glu)
c.976C>G (p.Gln326Glu)
c.718C>G (p.Gln240Glu)
c.877C>G (p.Gln293Glu)
15g.38351269C>TCA391933588SPRED1c.940C>T (p.Gln314Ter)
c.976C>T (p.Gln326Ter)
c.718C>T (p.Gln240Ter)
c.877C>T (p.Gln293Ter)
15g.38351270A=CA2170812643SPRED1c.941A= (p.Gln314=)
c.977A= (p.Gln326=)
c.719A= (p.Gln240=)
c.878A= (p.Gln293=)
15g.38351270A>CCA269293452SPRED1c.941A>C (p.Gln314Pro)
c.977A>C (p.Gln326Pro)
c.719A>C (p.Gln240Pro)
c.878A>C (p.Gln293Pro)
dbSNP gnomAD v4
15g.38351270A>GCA391933589SPRED1c.941A>G (p.Gln314Arg)
c.977A>G (p.Gln326Arg)
c.719A>G (p.Gln240Arg)
c.878A>G (p.Gln293Arg)
15g.38351270A>TCA391933590SPRED1c.941A>T (p.Gln314Leu)
c.977A>T (p.Gln326Leu)
c.719A>T (p.Gln240Leu)
c.878A>T (p.Gln293Leu)
15g.38351271G>ACA490012284SPRED1c.942G>A (p.Gln314=)
c.978G>A (p.Gln326=)
c.720G>A (p.Gln240=)
c.879G>A (p.Gln293=)
gnomAD v4
15g.38351271G>CCA391933592SPRED1c.942G>C (p.Gln314His)
c.978G>C (p.Gln326His)
c.720G>C (p.Gln240His)
c.879G>C (p.Gln293His)
15g.38351271G>TCA391933591SPRED1c.942G>T (p.Gln314His)
c.978G>T (p.Gln326His)
c.720G>T (p.Gln240His)
c.879G>T (p.Gln293His)
15g.38351272C>ACA391933593SPRED1c.943C>A (p.Pro315Thr)
c.979C>A (p.Pro327Thr)
c.721C>A (p.Pro241Thr)
c.880C>A (p.Pro294Thr)
15g.38351272C>GCA391933594SPRED1c.943C>G (p.Pro315Ala)
c.979C>G (p.Pro327Ala)
c.721C>G (p.Pro241Ala)
c.880C>G (p.Pro294Ala)
gnomAD v4
15g.38351272C>TCA391933595SPRED1c.943C>T (p.Pro315Ser)
c.979C>T (p.Pro327Ser)
c.721C>T (p.Pro241Ser)
c.880C>T (p.Pro294Ser)
ClinVar
15g.38351273C>ACA391933596SPRED1c.944C>A (p.Pro315His)
c.980C>A (p.Pro327His)
c.722C>A (p.Pro241His)
c.881C>A (p.Pro294His)
15g.38351273C=CA2170812644SPRED1c.944C= (p.Pro315=)
c.980C= (p.Pro327=)
c.722C= (p.Pro241=)
c.881C= (p.Pro294=)
15g.38351273C>GCA391933597SPRED1c.944C>G (p.Pro315Arg)
c.980C>G (p.Pro327Arg)
c.722C>G (p.Pro241Arg)
c.881C>G (p.Pro294Arg)
15g.38351273C>TCA7470209SPRED1c.944C>T (p.Pro315Leu)
c.980C>T (p.Pro327Leu)
c.722C>T (p.Pro241Leu)
c.881C>T (p.Pro294Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351274T>ACA490012288SPRED1c.945T>A (p.Pro315=)
c.981T>A (p.Pro327=)
c.723T>A (p.Pro241=)
c.882T>A (p.Pro294=)
15g.38351274T>CCA490012291SPRED1c.945T>C (p.Pro315=)
c.981T>C (p.Pro327=)
c.723T>C (p.Pro241=)
c.882T>C (p.Pro294=)
15g.38351274T>GCA490012293SPRED1c.945T>G (p.Pro315=)
c.981T>G (p.Pro327=)
c.723T>G (p.Pro241=)
c.882T>G (p.Pro294=)
COSMIC
15g.38351275T>ACA391933598SPRED1c.946T>A (p.Ser316Thr)
c.982T>A (p.Ser328Thr)
c.724T>A (p.Ser242Thr)
c.883T>A (p.Ser295Thr)
15g.38351275T>CCA391933599SPRED1c.946T>C (p.Ser316Pro)
c.982T>C (p.Ser328Pro)
c.724T>C (p.Ser242Pro)
c.883T>C (p.Ser295Pro)
15g.38351275T>GCA391933600SPRED1c.946T>G (p.Ser316Ala)
c.982T>G (p.Ser328Ala)
c.724T>G (p.Ser242Ala)
c.883T>G (p.Ser295Ala)
15g.38351276C>ACA391933601SPRED1c.947C>A (p.Ser316Tyr)
c.983C>A (p.Ser328Tyr)
c.725C>A (p.Ser242Tyr)
c.884C>A (p.Ser295Tyr)
15g.38351276C>GCA391933602SPRED1c.947C>G (p.Ser316Cys)
c.983C>G (p.Ser328Cys)
c.725C>G (p.Ser242Cys)
c.884C>G (p.Ser295Cys)
15g.38351276C>TCA391933603SPRED1c.947C>T (p.Ser316Phe)
c.983C>T (p.Ser328Phe)
c.725C>T (p.Ser242Phe)
c.884C>T (p.Ser295Phe)
dbSNP
15g.38351277C>ACA490012302SPRED1c.948C>A (p.Ser316=)
c.984C>A (p.Ser328=)
c.726C>A (p.Ser242=)
c.885C>A (p.Ser295=)
15g.38351277C=CA2170812645SPRED1c.948C= (p.Ser316=)
c.984C= (p.Ser328=)
c.726C= (p.Ser242=)
c.885C= (p.Ser295=)
15g.38351277C>GCA490012305SPRED1c.948C>G (p.Ser316=)
c.984C>G (p.Ser328=)
c.726C>G (p.Ser242=)
c.885C>G (p.Ser295=)
ClinVar dbSNP
15g.38351277C>TCA490012308SPRED1c.948C>T (p.Ser316=)
c.984C>T (p.Ser328=)
c.726C>T (p.Ser242=)
c.885C>T (p.Ser295=)
15g.38351278T>ACA391933605SPRED1c.949T>A (p.Ser317Thr)
c.985T>A (p.Ser329Thr)
c.727T>A (p.Ser243Thr)
c.886T>A (p.Ser296Thr)
15g.38351278T>CCA391933606SPRED1c.949T>C (p.Ser317Pro)
c.985T>C (p.Ser329Pro)
c.727T>C (p.Ser243Pro)
c.886T>C (p.Ser296Pro)
15g.38351278T>GCA391933604SPRED1c.949T>G (p.Ser317Ala)
c.985T>G (p.Ser329Ala)
c.727T>G (p.Ser243Ala)
c.886T>G (p.Ser296Ala)
15g.38351279C>ACA391933607SPRED1c.950C>A (p.Ser317Ter)
c.986C>A (p.Ser329Ter)
c.728C>A (p.Ser243Ter)
c.887C>A (p.Ser296Ter)
15g.38351279C>GCA391933608SPRED1c.950C>G (p.Ser317Ter)
c.986C>G (p.Ser329Ter)
c.728C>G (p.Ser243Ter)
c.887C>G (p.Ser296Ter)
ClinVar
15g.38351279C>TCA391933609SPRED1c.950C>T (p.Ser317Leu)
c.986C>T (p.Ser329Leu)
c.728C>T (p.Ser243Leu)
c.887C>T (p.Ser296Leu)
gnomAD v4
15g.38351280A=CA2170812646SPRED1c.951A= (p.Ser317=)
c.987A= (p.Ser329=)
c.729A= (p.Ser243=)
c.888A= (p.Ser296=)
15g.38351280A>CCA490012315SPRED1c.951A>C (p.Ser317=)
c.987A>C (p.Ser329=)
c.729A>C (p.Ser243=)
c.888A>C (p.Ser296=)
15g.38351280A>GCA490012313SPRED1c.951A>G (p.Ser317=)
c.987A>G (p.Ser329=)
c.729A>G (p.Ser243=)
c.888A>G (p.Ser296=)
dbSNP
15g.38351280A>TCA269293453SPRED1c.951A>T (p.Ser317=)
c.987A>T (p.Ser329=)
c.729A>T (p.Ser243=)
c.888A>T (p.Ser296=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351281T>ACA391933610SPRED1c.952T>A (p.Leu318Ile)
c.988T>A (p.Leu330Ile)
c.730T>A (p.Leu244Ile)
c.889T>A (p.Leu297Ile)
15g.38351281T>CCA490012317SPRED1c.952T>C (p.Leu318=)
c.988T>C (p.Leu330=)
c.730T>C (p.Leu244=)
c.889T>C (p.Leu297=)
15g.38351281T>GCA391933611SPRED1c.952T>G (p.Leu318Val)
c.988T>G (p.Leu330Val)
c.730T>G (p.Leu244Val)
c.889T>G (p.Leu297Val)
15g.38351282T>ACA391933614SPRED1c.953T>A (p.Leu318Ter)
c.989T>A (p.Leu330Ter)
c.731T>A (p.Leu244Ter)
c.890T>A (p.Leu297Ter)
COSMIC
15g.38351282T>CCA391933612SPRED1c.953T>C (p.Leu318Ser)
c.989T>C (p.Leu330Ser)
c.731T>C (p.Leu244Ser)
c.890T>C (p.Leu297Ser)
15g.38351282T>GCA391933613SPRED1c.953T>G (p.Leu318Ter)
c.989T>G (p.Leu330Ter)
c.731T>G (p.Leu244Ter)
c.890T>G (p.Leu297Ter)
15g.38351283A=CA2170812647SPRED1c.954A= (p.Leu318=)
c.990A= (p.Leu330=)
c.732A= (p.Leu244=)
c.891A= (p.Leu297=)
15g.38351283A>CCA391933615SPRED1c.954A>C (p.Leu318Phe)
c.990A>C (p.Leu330Phe)
c.732A>C (p.Leu244Phe)
c.891A>C (p.Leu297Phe)
15g.38351283A>GCA7470210SPRED1c.954A>G (p.Leu318=)
c.990A>G (p.Leu330=)
c.732A>G (p.Leu244=)
c.891A>G (p.Leu297=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351283A>TCA391933616SPRED1c.954A>T (p.Leu318Phe)
c.990A>T (p.Leu330Phe)
c.732A>T (p.Leu244Phe)
c.891A>T (p.Leu297Phe)
COSMIC
15g.38351287dupCA2580089329SPRED1c.958dup (p.Ile320AsnfsTer2)
c.994dup (p.Ile332AsnfsTer2)
c.736dup (p.Ile246AsnfsTer2)
c.895dup (p.Ile299AsnfsTer2)
ClinVar
15g.38351284A>CCA391933617SPRED1c.955A>C (p.Lys319Gln)
c.991A>C (p.Lys331Gln)
c.733A>C (p.Lys245Gln)
c.892A>C (p.Lys298Gln)
15g.38351284A>GCA391933618SPRED1c.955A>G (p.Lys319Glu)
c.991A>G (p.Lys331Glu)
c.733A>G (p.Lys245Glu)
c.892A>G (p.Lys298Glu)
15g.38351284A>TCA391933619SPRED1c.955A>T (p.Lys319Ter)
c.991A>T (p.Lys331Ter)
c.733A>T (p.Lys245Ter)
c.892A>T (p.Lys298Ter)
15g.38351285A>CCA391933622SPRED1c.956A>C (p.Lys319Thr)
c.992A>C (p.Lys331Thr)
c.734A>C (p.Lys245Thr)
c.893A>C (p.Lys298Thr)
15g.38351285A>GCA391933621SPRED1c.956A>G (p.Lys319Arg)
c.992A>G (p.Lys331Arg)
c.734A>G (p.Lys245Arg)
c.893A>G (p.Lys298Arg)
15g.38351285A>TCA391933620SPRED1c.956A>T (p.Lys319Ile)
c.992A>T (p.Lys331Ile)
c.734A>T (p.Lys245Ile)
c.893A>T (p.Lys298Ile)
15g.38351286A>CCA391933623SPRED1c.957A>C (p.Lys319Asn)
c.993A>C (p.Lys331Asn)
c.735A>C (p.Lys245Asn)
c.894A>C (p.Lys298Asn)
gnomAD v4
15g.38351286A>GCA490012330SPRED1c.957A>G (p.Lys319=)
c.993A>G (p.Lys331=)
c.735A>G (p.Lys245=)
c.894A>G (p.Lys298=)
15g.38351286A>TCA391933624SPRED1c.957A>T (p.Lys319Asn)
c.993A>T (p.Lys331Asn)
c.735A>T (p.Lys245Asn)
c.894A>T (p.Lys298Asn)
15g.38351287A>CCA391933625SPRED1c.958A>C (p.Ile320Leu)
c.994A>C (p.Ile332Leu)
c.736A>C (p.Ile246Leu)
c.895A>C (p.Ile299Leu)
gnomAD v4
15g.38351287A>GCA391933626SPRED1c.958A>G (p.Ile320Val)
c.994A>G (p.Ile332Val)
c.736A>G (p.Ile246Val)
c.895A>G (p.Ile299Val)
ClinVar
15g.38351287A>TCA391933627SPRED1c.958A>T (p.Ile320Phe)
c.994A>T (p.Ile332Phe)
c.736A>T (p.Ile246Phe)
c.895A>T (p.Ile299Phe)
15g.38351288T>ACA391933628SPRED1c.959T>A (p.Ile320Asn)
c.995T>A (p.Ile332Asn)
c.737T>A (p.Ile246Asn)
c.896T>A (p.Ile299Asn)
15g.38351288T>CCA391933629SPRED1c.959T>C (p.Ile320Thr)
c.995T>C (p.Ile332Thr)
c.737T>C (p.Ile246Thr)
c.896T>C (p.Ile299Thr)
15g.38351288T>GCA391933630SPRED1c.959T>G (p.Ile320Ser)
c.995T>G (p.Ile332Ser)
c.737T>G (p.Ile246Ser)
c.896T>G (p.Ile299Ser)
15g.38351289_38351296delCA645591363SPRED1c.960_967del (p.Lys322ThrfsTer7)
c.996_1003del (p.Lys334ThrfsTer7)
c.738_745del (p.Lys248ThrfsTer7)
c.897_904del (p.Lys301ThrfsTer7)
COSMIC
15g.38351289T>ACA490012335SPRED1c.960T>A (p.Ile320=)
c.996T>A (p.Ile332=)
c.738T>A (p.Ile246=)
c.897T>A (p.Ile299=)
15g.38351289T>CCA490012336SPRED1c.960T>C (p.Ile320=)
c.996T>C (p.Ile332=)
c.738T>C (p.Ile246=)
c.897T>C (p.Ile299=)
gnomAD v4
15g.38351289T>GCA391933631SPRED1c.960T>G (p.Ile320Met)
c.996T>G (p.Ile332Met)
c.738T>G (p.Ile246Met)
c.897T>G (p.Ile299Met)
15g.38351290A>CCA391933632SPRED1c.961A>C (p.Lys321Gln)
c.997A>C (p.Lys333Gln)
c.739A>C (p.Lys247Gln)
c.898A>C (p.Lys300Gln)
15g.38351290A>GCA391933633SPRED1c.961A>G (p.Lys321Glu)
c.997A>G (p.Lys333Glu)
c.739A>G (p.Lys247Glu)
c.898A>G (p.Lys300Glu)
15g.38351290A>TCA391933634SPRED1c.961A>T (p.Lys321Ter)
c.997A>T (p.Lys333Ter)
c.739A>T (p.Lys247Ter)
c.898A>T (p.Lys300Ter)
15g.38351291A>CCA391933635SPRED1c.962A>C (p.Lys321Thr)
c.998A>C (p.Lys333Thr)
c.740A>C (p.Lys247Thr)
c.899A>C (p.Lys300Thr)
ClinVar
15g.38351291A>GCA391933636SPRED1c.962A>G (p.Lys321Arg)
c.998A>G (p.Lys333Arg)
c.740A>G (p.Lys247Arg)
c.899A>G (p.Lys300Arg)
ClinVar
15g.38351291A>TCA391933637SPRED1c.962A>T (p.Lys321Met)
c.998A>T (p.Lys333Met)
c.740A>T (p.Lys247Met)
c.899A>T (p.Lys300Met)
15g.38351291_38351297delinsAGAAGTCCA2170812648SPRED1c.962_968delinsAGAAGTC (p.Lys321=)
c.998_1004delinsAGAAGTC (p.Lys333=)
c.740_746delinsAGAAGTC (p.Lys247=)
c.899_905delinsAGAAGTC (p.Lys300=)
15g.38351292G>ACA7470212SPRED1c.963G>A (p.Lys321=)
c.999G>A (p.Lys333=)
c.741G>A (p.Lys247=)
c.900G>A (p.Lys300=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351292G>CCA391933639SPRED1c.963G>C (p.Lys321Asn)
c.999G>C (p.Lys333Asn)
c.741G>C (p.Lys247Asn)
c.900G>C (p.Lys300Asn)
ClinVar
15g.38351292G=CA2170812649SPRED1c.963G= (p.Lys321=)
c.999G= (p.Lys333=)
c.741G= (p.Lys247=)
c.900G= (p.Lys300=)
15g.38351292G>TCA391933638SPRED1c.963G>T (p.Lys321Asn)
c.999G>T (p.Lys333Asn)
c.741G>T (p.Lys247Asn)
c.900G>T (p.Lys300Asn)
15g.38351292_38351297delCA7470211SPRED1c.963_968del (p.Lys322_Ser323del)
c.999_1004del (p.Lys334_Ser335del)
c.741_746del (p.Lys248_Ser249del)
c.900_905del (p.Lys301_Ser302del)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351293A>CCA391933640SPRED1c.964A>C (p.Lys322Gln)
c.1000A>C (p.Lys334Gln)
c.742A>C (p.Lys248Gln)
c.901A>C (p.Lys301Gln)
15g.38351293A>GCA391933641SPRED1c.964A>G (p.Lys322Glu)
c.1000A>G (p.Lys334Glu)
c.742A>G (p.Lys248Glu)
c.901A>G (p.Lys301Glu)
gnomAD v4
15g.38351293A>TCA391933642SPRED1c.964A>T (p.Lys322Ter)
c.1000A>T (p.Lys334Ter)
c.742A>T (p.Lys248Ter)
c.901A>T (p.Lys301Ter)
ClinVar
15g.38351294A=CA2170812650SPRED1c.965A= (p.Lys322=)
c.1001A= (p.Lys334=)
c.743A= (p.Lys248=)
c.902A= (p.Lys301=)
15g.38351294A>CCA391933643SPRED1c.965A>C (p.Lys322Thr)
c.1001A>C (p.Lys334Thr)
c.743A>C (p.Lys248Thr)
c.902A>C (p.Lys301Thr)
dbSNP gnomAD v2 gnomAD v4
15g.38351294A>GCA391933644SPRED1c.965A>G (p.Lys322Arg)
c.1001A>G (p.Lys334Arg)
c.743A>G (p.Lys248Arg)
c.902A>G (p.Lys301Arg)
15g.38351294A>TCA391933645SPRED1c.965A>T (p.Lys322Met)
c.1001A>T (p.Lys334Met)
c.743A>T (p.Lys248Met)
c.902A>T (p.Lys301Met)
15g.38351295G>ACA490012350SPRED1c.966G>A (p.Lys322=)
c.1002G>A (p.Lys334=)
c.744G>A (p.Lys248=)
c.903G>A (p.Lys301=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.38351295G>CCA391933646SPRED1c.966G>C (p.Lys322Asn)
c.1002G>C (p.Lys334Asn)
c.744G>C (p.Lys248Asn)
c.903G>C (p.Lys301Asn)
15g.38351295G=CA2170812651SPRED1c.966G= (p.Lys322=)
c.1002G= (p.Lys334=)
c.744G= (p.Lys248=)
c.903G= (p.Lys301=)
15g.38351295G>TCA391933647SPRED1c.966G>T (p.Lys322Asn)
c.1002G>T (p.Lys334Asn)
c.744G>T (p.Lys248Asn)
c.903G>T (p.Lys301Asn)
15g.38351296T>ACA391933648SPRED1c.967T>A (p.Ser323Thr)
c.1003T>A (p.Ser335Thr)
c.745T>A (p.Ser249Thr)
c.904T>A (p.Ser302Thr)
15g.38351296T>CCA391933649SPRED1c.967T>C (p.Ser323Pro)
c.1003T>C (p.Ser335Pro)
c.745T>C (p.Ser249Pro)
c.904T>C (p.Ser302Pro)
15g.38351296T>GCA391933650SPRED1c.967T>G (p.Ser323Ala)
c.1003T>G (p.Ser335Ala)
c.745T>G (p.Ser249Ala)
c.904T>G (p.Ser302Ala)
ClinVar
15g.38351296_38351310delinsTCAAAACGAAGAAAACA2170812652SPRED1c.967_981delinsTCAAAACGAAGAAAA (p.Ser323=)
c.1003_1017delinsTCAAAACGAAGAAAA (p.Ser335=)
c.745_759delinsTCAAAACGAAGAAAA (p.Ser249=)
c.904_918delinsTCAAAACGAAGAAAA (p.Ser302=)
15g.38351297C>ACA391933653SPRED1c.968C>A (p.Ser323Ter)
c.1004C>A (p.Ser335Ter)
c.746C>A (p.Ser249Ter)
c.905C>A (p.Ser302Ter)
15g.38351297C>GCA391933651SPRED1c.968C>G (p.Ser323Ter)
c.1004C>G (p.Ser335Ter)
c.746C>G (p.Ser249Ter)
c.905C>G (p.Ser302Ter)
15g.38351297C>TCA391933652SPRED1c.968C>T (p.Ser323Leu)
c.1004C>T (p.Ser335Leu)
c.746C>T (p.Ser249Leu)
c.905C>T (p.Ser302Leu)
15g.38351297_38351310delCA2170812653SPRED1c.968_981del (p.Ser323Ter)
c.1004_1017del (p.Ser335Ter)
c.746_759del (p.Ser249Ter)
c.905_918del (p.Ser302Ter)
dbSNP
15g.38351298A>CCA490012355SPRED1c.969A>C (p.Ser323=)
c.1005A>C (p.Ser335=)
c.747A>C (p.Ser249=)
c.906A>C (p.Ser302=)
15g.38351298A>GCA490012356SPRED1c.969A>G (p.Ser323=)
c.1005A>G (p.Ser335=)
c.747A>G (p.Ser249=)
c.906A>G (p.Ser302=)
15g.38351298A>TCA490012357SPRED1c.969A>T (p.Ser323=)
c.1005A>T (p.Ser335=)
c.747A>T (p.Ser249=)
c.906A>T (p.Ser302=)
15g.38351299A>CCA391933654SPRED1c.970A>C (p.Lys324Gln)
c.1006A>C (p.Lys336Gln)
c.748A>C (p.Lys250Gln)
c.907A>C (p.Lys303Gln)
15g.38351299A>GCA391933655SPRED1c.970A>G (p.Lys324Glu)
c.1006A>G (p.Lys336Glu)
c.748A>G (p.Lys250Glu)
c.907A>G (p.Lys303Glu)
COSMIC
15g.38351299A>TCA391933656SPRED1c.970A>T (p.Lys324Ter)
c.1006A>T (p.Lys336Ter)
c.748A>T (p.Lys250Ter)
c.907A>T (p.Lys303Ter)
15g.38351300A>CCA391933657SPRED1c.971A>C (p.Lys324Thr)
c.1007A>C (p.Lys336Thr)
c.749A>C (p.Lys250Thr)
c.908A>C (p.Lys303Thr)
15g.38351300A>GCA391933658SPRED1c.971A>G (p.Lys324Arg)
c.1007A>G (p.Lys336Arg)
c.749A>G (p.Lys250Arg)
c.908A>G (p.Lys303Arg)
15g.38351300A>TCA391933659SPRED1c.971A>T (p.Lys324Ile)
c.1007A>T (p.Lys336Ile)
c.749A>T (p.Lys250Ile)
c.908A>T (p.Lys303Ile)
15g.38351301A=CA2170812654SPRED1c.972A= (p.Lys324=)
c.1008A= (p.Lys336=)
c.750A= (p.Lys250=)
c.909A= (p.Lys303=)
15g.38351301A>CCA391933660SPRED1c.972A>C (p.Lys324Asn)
c.1008A>C (p.Lys336Asn)
c.750A>C (p.Lys250Asn)
c.909A>C (p.Lys303Asn)
gnomAD v4
15g.38351301A>GCA490012361SPRED1c.972A>G (p.Lys324=)
c.1008A>G (p.Lys336=)
c.750A>G (p.Lys250=)
c.909A>G (p.Lys303=)
dbSNP gnomAD v4
15g.38351301A>TCA391933661SPRED1c.972A>T (p.Lys324Asn)
c.1008A>T (p.Lys336Asn)
c.750A>T (p.Lys250Asn)
c.909A>T (p.Lys303Asn)
15g.38351302C>ACA490012362SPRED1c.973C>A (p.Arg325=)
c.1009C>A (p.Arg337=)
c.751C>A (p.Arg251=)
c.910C>A (p.Arg304=)
15g.38351302C=CA2170812655SPRED1c.973C= (p.Arg325=)
c.1009C= (p.Arg337=)
c.751C= (p.Arg251=)
c.910C= (p.Arg304=)
15g.38351302C>GCA391933662SPRED1c.973C>G (p.Arg325Gly)
c.1009C>G (p.Arg337Gly)
c.751C>G (p.Arg251Gly)
c.910C>G (p.Arg304Gly)
ClinVar dbSNP
15g.38351302C>TCA16043687SPRED1c.973C>T (p.Arg325Ter)
c.1009C>T (p.Arg337Ter)
c.751C>T (p.Arg251Ter)
c.910C>T (p.Arg304Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351303G>ACA391933663SPRED1c.974G>A (p.Arg325Gln)
c.1010G>A (p.Arg337Gln)
c.752G>A (p.Arg251Gln)
c.911G>A (p.Arg304Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.38351303G>CCA391933664SPRED1c.974G>C (p.Arg325Pro)
c.1010G>C (p.Arg337Pro)
c.752G>C (p.Arg251Pro)
c.911G>C (p.Arg304Pro)
15g.38351303G=CA2170812656SPRED1c.974G= (p.Arg325=)
c.1010G= (p.Arg337=)
c.752G= (p.Arg251=)
c.911G= (p.Arg304=)
15g.38351303G>TCA391933665SPRED1c.974G>T (p.Arg325Leu)
c.1010G>T (p.Arg337Leu)
c.752G>T (p.Arg251Leu)
c.911G>T (p.Arg304Leu)
15g.38351304A=CA2170812657SPRED1c.975A= (p.Arg325=)
c.1011A= (p.Arg337=)
c.753A= (p.Arg251=)
c.912A= (p.Arg304=)
15g.38351304A>CCA490012366SPRED1c.975A>C (p.Arg325=)
c.1011A>C (p.Arg337=)
c.753A>C (p.Arg251=)
c.912A>C (p.Arg304=)
15g.38351304A>GCA490012364SPRED1c.975A>G (p.Arg325=)
c.1011A>G (p.Arg337=)
c.753A>G (p.Arg251=)
c.912A>G (p.Arg304=)
dbSNP
15g.38351304A>TCA490012365SPRED1c.975A>T (p.Arg325=)
c.1011A>T (p.Arg337=)
c.753A>T (p.Arg251=)
c.912A>T (p.Arg304=)
15g.38351305A=CA2170812658SPRED1c.976A= (p.Arg326=)
c.1012A= (p.Arg338=)
c.754A= (p.Arg252=)
c.913A= (p.Arg305=)
15g.38351305A>CCA490012367SPRED1c.976A>C (p.Arg326=)
c.1012A>C (p.Arg338=)
c.754A>C (p.Arg252=)
c.913A>C (p.Arg305=)
gnomAD v4
15g.38351305A>GCA391933667SPRED1c.976A>G (p.Arg326Gly)
c.1012A>G (p.Arg338Gly)
c.754A>G (p.Arg252Gly)
c.913A>G (p.Arg305Gly)
dbSNP gnomAD v3 gnomAD v4
15g.38351305A>TCA391933666SPRED1c.976A>T (p.Arg326Ter)
c.1012A>T (p.Arg338Ter)
c.754A>T (p.Arg252Ter)
c.913A>T (p.Arg305Ter)
15g.38351306G>ACA391933668SPRED1c.977G>A (p.Arg326Lys)
c.1013G>A (p.Arg338Lys)
c.755G>A (p.Arg252Lys)
c.914G>A (p.Arg305Lys)
15g.38351306G>CCA7470213SPRED1c.977G>C (p.Arg326Thr)
c.1013G>C (p.Arg338Thr)
c.755G>C (p.Arg252Thr)
c.914G>C (p.Arg305Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351306G=CA2170812659SPRED1c.977G= (p.Arg326=)
c.1013G= (p.Arg338=)
c.755G= (p.Arg252=)
c.914G= (p.Arg305=)
15g.38351306G>TCA391933669SPRED1c.977G>T (p.Arg326Ile)
c.1013G>T (p.Arg338Ile)
c.755G>T (p.Arg252Ile)
c.914G>T (p.Arg305Ile)
15g.38351307A=CA2170812660SPRED1c.978A= (p.Arg326=)
c.1014A= (p.Arg338=)
c.756A= (p.Arg252=)
c.915A= (p.Arg305=)
15g.38351307A>CCA391933670SPRED1c.978A>C (p.Arg326Ser)
c.1014A>C (p.Arg338Ser)
c.756A>C (p.Arg252Ser)
c.915A>C (p.Arg305Ser)
15g.38351307A>GCA269293454SPRED1c.978A>G (p.Arg326=)
c.1014A>G (p.Arg338=)
c.756A>G (p.Arg252=)
c.915A>G (p.Arg305=)
dbSNP
15g.38351307A>TCA391933671SPRED1c.978A>T (p.Arg326Ser)
c.1014A>T (p.Arg338Ser)
c.756A>T (p.Arg252Ser)
c.915A>T (p.Arg305Ser)
15g.38351309_38351310delCA2627716207SPRED1c.980_981del (p.Lys327ArgfsTer4)
c.1016_1017del (p.Lys339ArgfsTer4)
c.758_759del (p.Lys253ArgfsTer4)
c.917_918del (p.Lys306ArgfsTer4)
gnomAD v4
15g.38351308A>CCA391933672SPRED1c.979A>C (p.Lys327Gln)
c.1015A>C (p.Lys339Gln)
c.757A>C (p.Lys253Gln)
c.916A>C (p.Lys306Gln)
15g.38351308A>GCA391933673SPRED1c.979A>G (p.Lys327Glu)
c.1015A>G (p.Lys339Glu)
c.757A>G (p.Lys253Glu)
c.916A>G (p.Lys306Glu)
15g.38351308A>TCA391933674SPRED1c.979A>T (p.Lys327Ter)
c.1015A>T (p.Lys339Ter)
c.757A>T (p.Lys253Ter)
c.916A>T (p.Lys306Ter)
15g.38351309A>CCA391933675SPRED1c.980A>C (p.Lys327Thr)
c.1016A>C (p.Lys339Thr)
c.758A>C (p.Lys253Thr)
c.917A>C (p.Lys306Thr)
15g.38351309A>GCA391933676SPRED1c.980A>G (p.Lys327Arg)
c.1016A>G (p.Lys339Arg)
c.758A>G (p.Lys253Arg)
c.917A>G (p.Lys306Arg)
15g.38351309A>TCA391933677SPRED1c.980A>T (p.Lys327Ile)
c.1016A>T (p.Lys339Ile)
c.758A>T (p.Lys253Ile)
c.917A>T (p.Lys306Ile)
15g.38351310A>CCA391933678SPRED1c.981A>C (p.Lys327Asn)
c.1017A>C (p.Lys339Asn)
c.759A>C (p.Lys253Asn)
c.918A>C (p.Lys306Asn)
15g.38351310A>GCA490012374SPRED1c.981A>G (p.Lys327=)
c.1017A>G (p.Lys339=)
c.759A>G (p.Lys253=)
c.918A>G (p.Lys306=)
15g.38351310A>TCA391933679SPRED1c.981A>T (p.Lys327Asn)
c.1017A>T (p.Lys339Asn)
c.759A>T (p.Lys253Asn)
c.918A>T (p.Lys306Asn)
15g.38351311G>ACA391933682SPRED1c.982G>A (p.Glu328Lys)
c.1018G>A (p.Glu340Lys)
c.760G>A (p.Glu254Lys)
c.919G>A (p.Glu307Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38351311G>CCA391933680SPRED1c.982G>C (p.Glu328Gln)
c.1018G>C (p.Glu340Gln)
c.760G>C (p.Glu254Gln)
c.919G>C (p.Glu307Gln)
15g.38351311G=CA2170812661SPRED1c.982G= (p.Glu328=)
c.1018G= (p.Glu340=)
c.760G= (p.Glu254=)
c.919G= (p.Glu307=)
15g.38351311G>TCA391933681SPRED1c.982G>T (p.Glu328Ter)
c.1018G>T (p.Glu340Ter)
c.760G>T (p.Glu254Ter)
c.919G>T (p.Glu307Ter)
COSMIC
15g.38351312A>CCA391933683SPRED1c.983A>C (p.Glu328Ala)
c.1019A>C (p.Glu340Ala)
c.761A>C (p.Glu254Ala)
c.920A>C (p.Glu307Ala)
15g.38351312A>GCA391933684SPRED1c.983A>G (p.Glu328Gly)
c.1019A>G (p.Glu340Gly)
c.761A>G (p.Glu254Gly)
c.920A>G (p.Glu307Gly)
15g.38351312A>TCA391933685SPRED1c.983A>T (p.Glu328Val)
c.1019A>T (p.Glu340Val)
c.761A>T (p.Glu254Val)
c.920A>T (p.Glu307Val)
15g.38351313G>ACA490012377SPRED1c.984G>A (p.Glu328=)
c.1020G>A (p.Glu340=)
c.762G>A (p.Glu254=)
c.921G>A (p.Glu307=)
ClinVar
15g.38351313G>CCA391933686SPRED1c.984G>C (p.Glu328Asp)
c.1020G>C (p.Glu340Asp)
c.762G>C (p.Glu254Asp)
c.921G>C (p.Glu307Asp)
15g.38351313G>TCA391933687SPRED1c.984G>T (p.Glu328Asp)
c.1020G>T (p.Glu340Asp)
c.762G>T (p.Glu254Asp)
c.921G>T (p.Glu307Asp)
15g.38351314G>ACA269293455SPRED1c.985G>A (p.Asp329Asn)
c.1021G>A (p.Asp341Asn)
c.763G>A (p.Asp255Asn)
c.922G>A (p.Asp308Asn)
dbSNP gnomAD v4
15g.38351314G>CCA7470214SPRED1c.985G>C (p.Asp329His)
c.1021G>C (p.Asp341His)
c.763G>C (p.Asp255His)
c.922G>C (p.Asp308His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351314G=CA2170812662SPRED1c.985G= (p.Asp329=)
c.1021G= (p.Asp341=)
c.763G= (p.Asp255=)
c.922G= (p.Asp308=)
15g.38351314G>TCA391933688SPRED1c.985G>T (p.Asp329Tyr)
c.1021G>T (p.Asp341Tyr)
c.763G>T (p.Asp255Tyr)
c.922G>T (p.Asp308Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351315A=CA2170812663SPRED1c.986A= (p.Asp329=)
c.1022A= (p.Asp341=)
c.764A= (p.Asp255=)
c.923A= (p.Asp308=)
15g.38351315A>CCA391933689SPRED1c.986A>C (p.Asp329Ala)
c.1022A>C (p.Asp341Ala)
c.764A>C (p.Asp255Ala)
c.923A>C (p.Asp308Ala)
15g.38351315A>GCA391933690SPRED1c.986A>G (p.Asp329Gly)
c.1022A>G (p.Asp341Gly)
c.764A>G (p.Asp255Gly)
c.923A>G (p.Asp308Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351315A>TCA391933691SPRED1c.986A>T (p.Asp329Val)
c.1022A>T (p.Asp341Val)
c.764A>T (p.Asp255Val)
c.923A>T (p.Asp308Val)
15g.38351316T>ACA391933692SPRED1c.987T>A (p.Asp329Glu)
c.1023T>A (p.Asp341Glu)
c.765T>A (p.Asp255Glu)
c.924T>A (p.Asp308Glu)
dbSNP
15g.38351316T>CCA490012379SPRED1c.987T>C (p.Asp329=)
c.1023T>C (p.Asp341=)
c.765T>C (p.Asp255=)
c.924T>C (p.Asp308=)
15g.38351316T>GCA391933693SPRED1c.987T>G (p.Asp329Glu)
c.1023T>G (p.Asp341Glu)
c.765T>G (p.Asp255Glu)
c.924T>G (p.Asp308Glu)
15g.38351316T=CA2170812664SPRED1c.987T= (p.Asp329=)
c.1023T= (p.Asp341=)
c.765T= (p.Asp255=)
c.924T= (p.Asp308=)
15g.38351317G>ACA391933696SPRED1c.988G>A (p.Gly330Ser)
c.1024G>A (p.Gly342Ser)
c.766G>A (p.Gly256Ser)
c.925G>A (p.Gly309Ser)
dbSNP gnomAD v2 gnomAD v4
15g.38351317G>CCA391933695SPRED1c.988G>C (p.Gly330Arg)
c.1024G>C (p.Gly342Arg)
c.766G>C (p.Gly256Arg)
c.925G>C (p.Gly309Arg)
15g.38351317G=CA2170812665SPRED1c.988G= (p.Gly330=)
c.1024G= (p.Gly342=)
c.766G= (p.Gly256=)
c.925G= (p.Gly309=)
15g.38351317G>TCA391933694SPRED1c.988G>T (p.Gly330Cys)
c.1024G>T (p.Gly342Cys)
c.766G>T (p.Gly256Cys)
c.925G>T (p.Gly309Cys)
15g.38351318delCA658761242SPRED1c.989del (p.Gly330ValfsTer?)
c.1025del (p.Gly342ValfsTer?)
c.767del (p.Gly256ValfsTer?)
c.926del (p.Gly309ValfsTer?)
15g.38351317_38351329delinsGGTGAACGTTCTCCA2170812666SPRED1c.988_1000delinsGGTGAACGTTCTC (p.Gly330=)
c.1024_1036delinsGGTGAACGTTCTC (p.Gly342=)
c.766_778delinsGGTGAACGTTCTC (p.Gly256=)
c.925_937delinsGGTGAACGTTCTC (p.Gly309=)
15g.38351318G>ACA391933697SPRED1c.989G>A (p.Gly330Asp)
c.1025G>A (p.Gly342Asp)
c.767G>A (p.Gly256Asp)
c.926G>A (p.Gly309Asp)
ClinVar dbSNP gnomAD v4
15g.38351318G>CCA391933698SPRED1c.989G>C (p.Gly330Ala)
c.1025G>C (p.Gly342Ala)
c.767G>C (p.Gly256Ala)
c.926G>C (p.Gly309Ala)
15g.38351318G=CA2170812668SPRED1c.989G= (p.Gly330=)
c.1025G= (p.Gly342=)
c.767G= (p.Gly256=)
c.926G= (p.Gly309=)
15g.38351318G>TCA391933699SPRED1c.989G>T (p.Gly330Val)
c.1025G>T (p.Gly342Val)
c.767G>T (p.Gly256Val)
c.926G>T (p.Gly309Val)
dbSNP gnomAD v2 gnomAD v4
15g.38351319_38351330delCA2170812667SPRED1c.990_1001del (p.Glu331_Arg334del)
c.1026_1037del (p.Glu343_Arg346del)
c.768_779del (p.Glu257_Arg260del)
c.927_938del (p.Glu310_Arg313del)
dbSNP
15g.38351319T>ACA490012381SPRED1c.990T>A (p.Gly330=)
c.1026T>A (p.Gly342=)
c.768T>A (p.Gly256=)
c.927T>A (p.Gly309=)
15g.38351319T>CCA490012382SPRED1c.990T>C (p.Gly330=)
c.1026T>C (p.Gly342=)
c.768T>C (p.Gly256=)
c.927T>C (p.Gly309=)
15g.38351319T>GCA490012383SPRED1c.990T>G (p.Gly330=)
c.1026T>G (p.Gly342=)
c.768T>G (p.Gly256=)
c.927T>G (p.Gly309=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38351319T=CA2170812669SPRED1c.990T= (p.Gly330=)
c.1026T= (p.Gly342=)
c.768T= (p.Gly256=)
c.927T= (p.Gly309=)
15g.38351320G>ACA391933700SPRED1c.991G>A (p.Glu331Lys)
c.1027G>A (p.Glu343Lys)
c.769G>A (p.Glu257Lys)
c.928G>A (p.Glu310Lys)
15g.38351320G>CCA391933701SPRED1c.991G>C (p.Glu331Gln)
c.1027G>C (p.Glu343Gln)
c.769G>C (p.Glu257Gln)
c.928G>C (p.Glu310Gln)
15g.38351320G>TCA391933702SPRED1c.991G>T (p.Glu331Ter)
c.1027G>T (p.Glu343Ter)
c.769G>T (p.Glu257Ter)
c.928G>T (p.Glu310Ter)
15g.38351321A>CCA391933703SPRED1c.992A>C (p.Glu331Ala)
c.1028A>C (p.Glu343Ala)
c.770A>C (p.Glu257Ala)
c.929A>C (p.Glu310Ala)
15g.38351321A>GCA391933704SPRED1c.992A>G (p.Glu331Gly)
c.1028A>G (p.Glu343Gly)
c.770A>G (p.Glu257Gly)
c.929A>G (p.Glu310Gly)
gnomAD v4
15g.38351321A>TCA391933705SPRED1c.992A>T (p.Glu331Val)
c.1028A>T (p.Glu343Val)
c.770A>T (p.Glu257Val)
c.929A>T (p.Glu310Val)
15g.38351322dupCA2695219958SPRED1c.993dup (p.Arg332ThrfsTer12)
c.1029dup (p.Arg344ThrfsTer12)
c.771dup (p.Arg258ThrfsTer12)
c.930dup (p.Arg311ThrfsTer12)
15g.38351322A>CCA391933706SPRED1c.993A>C (p.Glu331Asp)
c.1029A>C (p.Glu343Asp)
c.771A>C (p.Glu257Asp)
c.930A>C (p.Glu310Asp)
15g.38351322A>GCA490012387SPRED1c.993A>G (p.Glu331=)
c.1029A>G (p.Glu343=)
c.771A>G (p.Glu257=)
c.930A>G (p.Glu310=)
ClinVar
15g.38351322A>TCA391933707SPRED1c.993A>T (p.Glu331Asp)
c.1029A>T (p.Glu343Asp)
c.771A>T (p.Glu257Asp)
c.930A>T (p.Glu310Asp)
15g.38351323C>ACA391933708SPRED1c.994C>A (p.Arg332Ser)
c.1030C>A (p.Arg344Ser)
c.772C>A (p.Arg258Ser)
c.931C>A (p.Arg311Ser)
15g.38351323C=CA2170812670SPRED1c.994C= (p.Arg332=)
c.1030C= (p.Arg344=)
c.772C= (p.Arg258=)
c.931C= (p.Arg311=)
15g.38351323C>GCA391933710SPRED1c.994C>G (p.Arg332Gly)
c.1030C>G (p.Arg344Gly)
c.772C>G (p.Arg258Gly)
c.931C>G (p.Arg311Gly)
15g.38351323C>TCA7470215SPRED1c.994C>T (p.Arg332Cys)
c.1030C>T (p.Arg344Cys)
c.772C>T (p.Arg258Cys)
c.931C>T (p.Arg311Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351324G>ACA7470216SPRED1c.995G>A (p.Arg332His)
c.1031G>A (p.Arg344His)
c.773G>A (p.Arg258His)
c.932G>A (p.Arg311His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351324G>CCA391933716SPRED1c.995G>C (p.Arg332Pro)
c.1031G>C (p.Arg344Pro)
c.773G>C (p.Arg258Pro)
c.932G>C (p.Arg311Pro)
15g.38351324G=CA2170812671SPRED1c.995G= (p.Arg332=)
c.1031G= (p.Arg344=)
c.773G= (p.Arg258=)
c.932G= (p.Arg311=)
15g.38351324G>TCA391933713SPRED1c.995G>T (p.Arg332Leu)
c.1031G>T (p.Arg344Leu)
c.773G>T (p.Arg258Leu)
c.932G>T (p.Arg311Leu)
15g.38351325T>ACA490012391SPRED1c.996T>A (p.Arg332=)
c.1032T>A (p.Arg344=)
c.774T>A (p.Arg258=)
c.933T>A (p.Arg311=)
15g.38351325T>CCA490012392SPRED1c.996T>C (p.Arg332=)
c.1032T>C (p.Arg344=)
c.774T>C (p.Arg258=)
c.933T>C (p.Arg311=)
15g.38351325T>GCA490012393SPRED1c.996T>G (p.Arg332=)
c.1032T>G (p.Arg344=)
c.774T>G (p.Arg258=)
c.933T>G (p.Arg311=)
15g.38351326T>ACA391933718SPRED1c.997T>A (p.Ser333Thr)
c.1033T>A (p.Ser345Thr)
c.775T>A (p.Ser259Thr)
c.934T>A (p.Ser312Thr)
15g.38351326T>CCA391933719SPRED1c.997T>C (p.Ser333Pro)
c.1033T>C (p.Ser345Pro)
c.775T>C (p.Ser259Pro)
c.934T>C (p.Ser312Pro)
15g.38351326T>GCA391933720SPRED1c.997T>G (p.Ser333Ala)
c.1033T>G (p.Ser345Ala)
c.775T>G (p.Ser259Ala)
c.934T>G (p.Ser312Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351326T=CA2170812672SPRED1c.997T= (p.Ser333=)
c.1033T= (p.Ser345=)
c.775T= (p.Ser259=)
c.934T= (p.Ser312=)
15g.38351327C>ACA391933722SPRED1c.998C>A (p.Ser333Tyr)
c.1034C>A (p.Ser345Tyr)
c.776C>A (p.Ser259Tyr)
c.935C>A (p.Ser312Tyr)
15g.38351327C>GCA391933724SPRED1c.998C>G (p.Ser333Cys)
c.1034C>G (p.Ser345Cys)
c.776C>G (p.Ser259Cys)
c.935C>G (p.Ser312Cys)
15g.38351327C>TCA391933725SPRED1c.998C>T (p.Ser333Phe)
c.1034C>T (p.Ser345Phe)
c.776C>T (p.Ser259Phe)
c.935C>T (p.Ser312Phe)
15g.38351328T>ACA490012399SPRED1c.999T>A (p.Ser333=)
c.1035T>A (p.Ser345=)
c.777T>A (p.Ser259=)
c.936T>A (p.Ser312=)
15g.38351328T>CCA490012400SPRED1c.999T>C (p.Ser333=)
c.1035T>C (p.Ser345=)
c.777T>C (p.Ser259=)
c.936T>C (p.Ser312=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351328T>GCA490012402SPRED1c.999T>G (p.Ser333=)
c.1035T>G (p.Ser345=)
c.777T>G (p.Ser259=)
c.936T>G (p.Ser312=)
15g.38351328T=CA2170812673SPRED1c.999T= (p.Ser333=)
c.1035T= (p.Ser345=)
c.777T= (p.Ser259=)
c.936T= (p.Ser312=)
15g.38351329C>ACA391933727SPRED1c.1000C>A (p.Arg334Ser)
c.1036C>A (p.Arg346Ser)
c.778C>A (p.Arg260Ser)
c.937C>A (p.Arg313Ser)
15g.38351329C=CA2170812674SPRED1c.1000C= (p.Arg334=)
c.1036C= (p.Arg346=)
c.778C= (p.Arg260=)
c.937C= (p.Arg313=)
15g.38351329C>GCA391933729SPRED1c.1000C>G (p.Arg334Gly)
c.1036C>G (p.Arg346Gly)
c.778C>G (p.Arg260Gly)
c.937C>G (p.Arg313Gly)
15g.38351329C>TCA10641669SPRED1c.1000C>T (p.Arg334Cys)
c.1036C>T (p.Arg346Cys)
c.778C>T (p.Arg260Cys)
c.937C>T (p.Arg313Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351330G>ACA7470217SPRED1c.1001G>A (p.Arg334His)
c.1037G>A (p.Arg346His)
c.779G>A (p.Arg260His)
c.938G>A (p.Arg313His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351330G>CCA391933732SPRED1c.1001G>C (p.Arg334Pro)
c.1037G>C (p.Arg346Pro)
c.779G>C (p.Arg260Pro)
c.938G>C (p.Arg313Pro)
gnomAD v4
15g.38351330G=CA2170812675SPRED1c.1001G= (p.Arg334=)
c.1037G= (p.Arg346=)
c.779G= (p.Arg260=)
c.938G= (p.Arg313=)
15g.38351330G>TCA391933733SPRED1c.1001G>T (p.Arg334Leu)
c.1037G>T (p.Arg346Leu)
c.779G>T (p.Arg260Leu)
c.938G>T (p.Arg313Leu)
dbSNP
15g.38351331C>ACA490012405SPRED1c.1002C>A (p.Arg334=)
c.1038C>A (p.Arg346=)
c.780C>A (p.Arg260=)
c.939C>A (p.Arg313=)
15g.38351331C>GCA490012406SPRED1c.1002C>G (p.Arg334=)
c.1038C>G (p.Arg346=)
c.780C>G (p.Arg260=)
c.939C>G (p.Arg313=)
15g.38351331C>TCA490012407SPRED1c.1002C>T (p.Arg334=)
c.1038C>T (p.Arg346=)
c.780C>T (p.Arg260=)
c.939C>T (p.Arg313=)
15g.38351332delCA2627716208SPRED1c.1003del (p.Cys335AlafsTer?)
c.1039del (p.Cys347AlafsTer?)
c.781del (p.Cys261AlafsTer?)
c.940del (p.Cys314AlafsTer?)
gnomAD v4
15g.38351332T>ACA391933738SPRED1c.1003T>A (p.Cys335Ser)
c.1039T>A (p.Cys347Ser)
c.781T>A (p.Cys261Ser)
c.940T>A (p.Cys314Ser)
15g.38351332T>CCA391933736SPRED1c.1003T>C (p.Cys335Arg)
c.1039T>C (p.Cys347Arg)
c.781T>C (p.Cys261Arg)
c.940T>C (p.Cys314Arg)
15g.38351332T>GCA391933735SPRED1c.1003T>G (p.Cys335Gly)
c.1039T>G (p.Cys347Gly)
c.781T>G (p.Cys261Gly)
c.940T>G (p.Cys314Gly)
15g.38351333G>ACA391933739SPRED1c.1004G>A (p.Cys335Tyr)
c.1040G>A (p.Cys347Tyr)
c.782G>A (p.Cys261Tyr)
c.941G>A (p.Cys314Tyr)
15g.38351333G>CCA391933741SPRED1c.1004G>C (p.Cys335Ser)
c.1040G>C (p.Cys347Ser)
c.782G>C (p.Cys261Ser)
c.941G>C (p.Cys314Ser)
15g.38351333G>TCA391933742SPRED1c.1004G>T (p.Cys335Phe)
c.1040G>T (p.Cys347Phe)
c.782G>T (p.Cys261Phe)
c.941G>T (p.Cys314Phe)
15g.38351334C>ACA391933744SPRED1c.1005C>A (p.Cys335Ter)
c.1041C>A (p.Cys347Ter)
c.783C>A (p.Cys261Ter)
c.942C>A (p.Cys314Ter)
15g.38351334C=CA2170812676SPRED1c.1005C= (p.Cys335=)
c.1041C= (p.Cys347=)
c.783C= (p.Cys261=)
c.942C= (p.Cys314=)
15g.38351334C>GCA391933745SPRED1c.1005C>G (p.Cys335Trp)
c.1041C>G (p.Cys347Trp)
c.783C>G (p.Cys261Trp)
c.942C>G (p.Cys314Trp)
15g.38351334C>TCA7470218SPRED1c.1005C>T (p.Cys335=)
c.1041C>T (p.Cys347=)
c.783C>T (p.Cys261=)
c.942C>T (p.Cys314=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351335G>ACA7470219SPRED1c.1006G>A (p.Val336Ile)
c.1042G>A (p.Val348Ile)
c.784G>A (p.Val262Ile)
c.943G>A (p.Val315Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351335G>CCA391933748SPRED1c.1006G>C (p.Val336Leu)
c.1042G>C (p.Val348Leu)
c.784G>C (p.Val262Leu)
c.943G>C (p.Val315Leu)
15g.38351335G=CA2170812677SPRED1c.1006G= (p.Val336=)
c.1042G= (p.Val348=)
c.784G= (p.Val262=)
c.943G= (p.Val315=)
15g.38351335G>TCA391933750SPRED1c.1006G>T (p.Val336Leu)
c.1042G>T (p.Val348Leu)
c.784G>T (p.Val262Leu)
c.943G>T (p.Val315Leu)
15g.38351336T>ACA391933751SPRED1c.1007T>A (p.Val336Glu)
c.1043T>A (p.Val348Glu)
c.785T>A (p.Val262Glu)
c.944T>A (p.Val315Glu)
15g.38351336T>CCA391933752SPRED1c.1007T>C (p.Val336Ala)
c.1043T>C (p.Val348Ala)
c.785T>C (p.Val262Ala)
c.944T>C (p.Val315Ala)
15g.38351336T>GCA391933753SPRED1c.1007T>G (p.Val336Gly)
c.1043T>G (p.Val348Gly)
c.785T>G (p.Val262Gly)
c.944T>G (p.Val315Gly)
15g.38351337A=CA2170812678SPRED1c.1008A= (p.Val336=)
c.1044A= (p.Val348=)
c.786A= (p.Val262=)
c.945A= (p.Val315=)
15g.38351337A>CCA490012413SPRED1c.1008A>C (p.Val336=)
c.1044A>C (p.Val348=)
c.786A>C (p.Val262=)
c.945A>C (p.Val315=)
15g.38351337A>GCA490012414SPRED1c.1008A>G (p.Val336=)
c.1044A>G (p.Val348=)
c.786A>G (p.Val262=)
c.945A>G (p.Val315=)
ClinVar dbSNP gnomAD v4
15g.38351337A>TCA490012415SPRED1c.1008A>T (p.Val336=)
c.1044A>T (p.Val348=)
c.786A>T (p.Val262=)
c.945A>T (p.Val315=)
15g.38351338T>ACA391933755SPRED1c.1009T>A (p.Tyr337Asn)
c.1045T>A (p.Tyr349Asn)
c.787T>A (p.Tyr263Asn)
c.946T>A (p.Tyr316Asn)
gnomAD v4
15g.38351338T>CCA391933758SPRED1c.1009T>C (p.Tyr337His)
c.1045T>C (p.Tyr349His)
c.787T>C (p.Tyr263His)
c.946T>C (p.Tyr316His)
15g.38351338T>GCA391933757SPRED1c.1009T>G (p.Tyr337Asp)
c.1045T>G (p.Tyr349Asp)
c.787T>G (p.Tyr263Asp)
c.946T>G (p.Tyr316Asp)
15g.38351339A>CCA391933761SPRED1c.1010A>C (p.Tyr337Ser)
c.1046A>C (p.Tyr349Ser)
c.788A>C (p.Tyr263Ser)
c.947A>C (p.Tyr316Ser)
15g.38351339A>GCA391933764SPRED1c.1010A>G (p.Tyr337Cys)
c.1046A>G (p.Tyr349Cys)
c.788A>G (p.Tyr263Cys)
c.947A>G (p.Tyr316Cys)
15g.38351339A>TCA391933762SPRED1c.1010A>T (p.Tyr337Phe)
c.1046A>T (p.Tyr349Phe)
c.788A>T (p.Tyr263Phe)
c.947A>T (p.Tyr316Phe)
15g.38351339_38351340insGGGGGGGGGGGGCA2803806069SPRED1c.1010_1011insGGGGGGGGGGGG (p.Tyr337Ter)
c.1046_1047insGGGGGGGGGGGG (p.Tyr349Ter)
c.788_789insGGGGGGGGGGGG (p.Tyr263Ter)
c.947_948insGGGGGGGGGGGG (p.Tyr316Ter)
15g.38351340C>ACA391933765SPRED1c.1011C>A (p.Tyr337Ter)
c.1047C>A (p.Tyr349Ter)
c.789C>A (p.Tyr263Ter)
c.948C>A (p.Tyr316Ter)
ClinVar dbSNP
15g.38351340C>GCA391933767SPRED1c.1011C>G (p.Tyr337Ter)
c.1047C>G (p.Tyr349Ter)
c.789C>G (p.Tyr263Ter)
c.948C>G (p.Tyr316Ter)
15g.38351340C>TCA490012420SPRED1c.1011C>T (p.Tyr337=)
c.1047C>T (p.Tyr349=)
c.789C>T (p.Tyr263=)
c.948C>T (p.Tyr316=)
ClinVar
15g.38351340_38351341insCTCGCCA2627716209SPRED1c.1011_1012insCTCGC (p.Cys338LeufsTer?)
c.1047_1048insCTCGC (p.Cys350LeufsTer?)
c.789_790insCTCGC (p.Cys264LeufsTer?)
c.948_949insCTCGC (p.Cys317LeufsTer?)
gnomAD v4
15g.38351341T>ACA391933769SPRED1c.1012T>A (p.Cys338Ser)
c.1048T>A (p.Cys350Ser)
c.790T>A (p.Cys264Ser)
c.949T>A (p.Cys317Ser)
15g.38351341T>CCA391933770SPRED1c.1012T>C (p.Cys338Arg)
c.1048T>C (p.Cys350Arg)
c.790T>C (p.Cys264Arg)
c.949T>C (p.Cys317Arg)
15g.38351341T>GCA391933772SPRED1c.1012T>G (p.Cys338Gly)
c.1048T>G (p.Cys350Gly)
c.790T>G (p.Cys264Gly)
c.949T>G (p.Cys317Gly)
15g.38351342G>ACA391933775SPRED1c.1013G>A (p.Cys338Tyr)
c.1049G>A (p.Cys350Tyr)
c.791G>A (p.Cys264Tyr)
c.950G>A (p.Cys317Tyr)
15g.38351342G>CCA391933776SPRED1c.1013G>C (p.Cys338Ser)
c.1049G>C (p.Cys350Ser)
c.791G>C (p.Cys264Ser)
c.950G>C (p.Cys317Ser)
15g.38351342G>TCA391933777SPRED1c.1013G>T (p.Cys338Phe)
c.1049G>T (p.Cys350Phe)
c.791G>T (p.Cys264Phe)
c.950G>T (p.Cys317Phe)
15g.38351343C>ACA391933779SPRED1c.1014C>A (p.Cys338Ter)
c.1050C>A (p.Cys350Ter)
c.792C>A (p.Cys264Ter)
c.951C>A (p.Cys317Ter)
15g.38351343C>GCA391933780SPRED1c.1014C>G (p.Cys338Trp)
c.1050C>G (p.Cys350Trp)
c.792C>G (p.Cys264Trp)
c.951C>G (p.Cys317Trp)
15g.38351343C>TCA490012425SPRED1c.1014C>T (p.Cys338=)
c.1050C>T (p.Cys350=)
c.792C>T (p.Cys264=)
c.951C>T (p.Cys317=)
15g.38351344C>ACA391933782SPRED1c.1015C>A (p.Gln339Lys)
c.1051C>A (p.Gln351Lys)
c.793C>A (p.Gln265Lys)
c.952C>A (p.Gln318Lys)
15g.38351344C=CA2170812679SPRED1c.1015C= (p.Gln339=)
c.1051C= (p.Gln351=)
c.793C= (p.Gln265=)
c.952C= (p.Gln318=)
15g.38351344C>GCA391933784SPRED1c.1015C>G (p.Gln339Glu)
c.1051C>G (p.Gln351Glu)
c.793C>G (p.Gln265Glu)
c.952C>G (p.Gln318Glu)
15g.38351344C>TCA391933783SPRED1c.1015C>T (p.Gln339Ter)
c.1051C>T (p.Gln351Ter)
c.793C>T (p.Gln265Ter)
c.952C>T (p.Gln318Ter)
ClinVar dbSNP
15g.38351344_38351346delCA2627716210SPRED1c.1015_1017del (p.Gln339del)
c.1051_1053del (p.Gln351del)
c.793_795del (p.Gln265del)
c.952_954del (p.Gln318del)
gnomAD v4
15g.38351345A>CCA391933786SPRED1c.1016A>C (p.Gln339Pro)
c.1052A>C (p.Gln351Pro)
c.794A>C (p.Gln265Pro)
c.953A>C (p.Gln318Pro)
15g.38351345A>GCA391933788SPRED1c.1016A>G (p.Gln339Arg)
c.1052A>G (p.Gln351Arg)
c.794A>G (p.Gln265Arg)
c.953A>G (p.Gln318Arg)
15g.38351345A>TCA391933791SPRED1c.1016A>T (p.Gln339Leu)
c.1052A>T (p.Gln351Leu)
c.794A>T (p.Gln265Leu)
c.953A>T (p.Gln318Leu)
15g.38351346G>ACA490012432SPRED1c.1017G>A (p.Gln339=)
c.1053G>A (p.Gln351=)
c.795G>A (p.Gln265=)
c.954G>A (p.Gln318=)
15g.38351346G>CCA391933793SPRED1c.1017G>C (p.Gln339His)
c.1053G>C (p.Gln351His)
c.795G>C (p.Gln265His)
c.954G>C (p.Gln318His)
15g.38351346G>TCA391933795SPRED1c.1017G>T (p.Gln339His)
c.1053G>T (p.Gln351His)
c.795G>T (p.Gln265His)
c.954G>T (p.Gln318His)
15g.38351347G>ACA391933797SPRED1c.1018G>A (p.Glu340Lys)
c.1054G>A (p.Glu352Lys)
c.796G>A (p.Glu266Lys)
c.955G>A (p.Glu319Lys)
15g.38351347G>CCA391933799SPRED1c.1018G>C (p.Glu340Gln)
c.1054G>C (p.Glu352Gln)
c.796G>C (p.Glu266Gln)
c.955G>C (p.Glu319Gln)
15g.38351347G>TCA391933798SPRED1c.1018G>T (p.Glu340Ter)
c.1054G>T (p.Glu352Ter)
c.796G>T (p.Glu266Ter)
c.955G>T (p.Glu319Ter)

Number of alleles fetched