Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.54290329A=CA1458540574PDGFRAc.2897A= (p.His966=)
c.2177A= (p.His726=)
c.2972A= (p.His991=)
c.2936A= (p.His979=)
4g.54290329A>CCA356895943PDGFRAc.2897A>C (p.His966Pro)
c.2177A>C (p.His726Pro)
c.2972A>C (p.His991Pro)
c.2936A>C (p.His979Pro)
4g.54290329A>GCA215865PDGFRAc.2897A>G (p.His966Arg)
c.2177A>G (p.His726Arg)
c.2972A>G (p.His991Arg)
c.2936A>G (p.His979Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.54290329A>TCA356895944PDGFRAc.2897A>T (p.His966Leu)
c.2177A>T (p.His726Leu)
c.2972A>T (p.His991Leu)
c.2936A>T (p.His979Leu)
4g.54290330C>ACA356895945PDGFRAc.2898C>A (p.His966Gln)
c.2178C>A (p.His726Gln)
c.2973C>A (p.His991Gln)
c.2937C>A (p.His979Gln)
 ClinVar
4g.54290330C=CA1458540580PDGFRAc.2898C= (p.His966=)
c.2178C= (p.His726=)
c.2973C= (p.His991=)
c.2937C= (p.His979=)
4g.54290330C>GCA356895946PDGFRAc.2898C>G (p.His966Gln)
c.2178C>G (p.His726Gln)
c.2973C>G (p.His991Gln)
c.2937C>G (p.His979Gln)
4g.54290330C>TCA439408772PDGFRAc.2898C>T (p.His966=)
c.2178C>T (p.His726=)
c.2973C>T (p.His991=)
c.2937C>T (p.His979=)
 ClinVar dbSNP gnomAD v4
4g.54290331C>ACA356895947PDGFRAc.2899C>A (p.Leu967Met)
c.2179C>A (p.Leu727Met)
c.2974C>A (p.Leu992Met)
c.2938C>A (p.Leu980Met)
 COSMIC
4g.54290331C=CA1458540585PDGFRAc.2899C= (p.Leu967=)
c.2179C= (p.Leu727=)
c.2974C= (p.Leu992=)
c.2938C= (p.Leu980=)
4g.54290331C>GCA161414PDGFRAc.2899C>G (p.Leu967Val)
c.2179C>G (p.Leu727Val)
c.2974C>G (p.Leu992Val)
c.2938C>G (p.Leu980Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290331C>TCA2922989PDGFRAc.2899C>T (p.Leu967=)
c.2179C>T (p.Leu727=)
c.2974C>T (p.Leu992=)
c.2938C>T (p.Leu980=)
 ClinVar dbSNP ExAC
4g.54290332T>ACA356895948PDGFRAc.2900T>A (p.Leu967Gln)
c.2180T>A (p.Leu727Gln)
c.2975T>A (p.Leu992Gln)
c.2939T>A (p.Leu980Gln)
4g.54290332T>CCA356895949PDGFRAc.2900T>C (p.Leu967Pro)
c.2180T>C (p.Leu727Pro)
c.2975T>C (p.Leu992Pro)
c.2939T>C (p.Leu980Pro)
4g.54290332T>GCA356895950PDGFRAc.2900T>G (p.Leu967Arg)
c.2180T>G (p.Leu727Arg)
c.2975T>G (p.Leu992Arg)
c.2939T>G (p.Leu980Arg)
4g.54290333G>ACA439408775PDGFRAc.2901G>A (p.Leu967=)
c.2181G>A (p.Leu727=)
c.2976G>A (p.Leu992=)
c.2940G>A (p.Leu980=)
 ClinVar dbSNP
4g.54290333G>CCA439408774PDGFRAc.2901G>C (p.Leu967=)
c.2181G>C (p.Leu727=)
c.2976G>C (p.Leu992=)
c.2940G>C (p.Leu980=)
4g.54290333G>TCA439408773PDGFRAc.2901G>T (p.Leu967=)
c.2181G>T (p.Leu727=)
c.2976G>T (p.Leu992=)
c.2940G>T (p.Leu980=)
4g.54290334delCA2578089809PDGFRAc.2902del (p.Asp968ThrfsTer3)
c.2182del (p.Asp728ThrfsTer3)
c.2977del (p.Asp993ThrfsTer3)
c.2941del (p.Asp981ThrfsTer3)
4g.54290334G>ACA356895953PDGFRAc.2902G>A (p.Asp968Asn)
c.2182G>A (p.Asp728Asn)
c.2977G>A (p.Asp993Asn)
c.2941G>A (p.Asp981Asn)
 ClinVar dbSNP gnomAD v4
4g.54290334G>CCA356895952PDGFRAc.2902G>C (p.Asp968His)
c.2182G>C (p.Asp728His)
c.2977G>C (p.Asp993His)
c.2941G>C (p.Asp981His)
 ClinVar dbSNP gnomAD v4
4g.54290334G=CA1458540595PDGFRAc.2902G= (p.Asp968=)
c.2182G= (p.Asp728=)
c.2977G= (p.Asp993=)
c.2941G= (p.Asp981=)
4g.54290334G>TCA356895951PDGFRAc.2902G>T (p.Asp968Tyr)
c.2182G>T (p.Asp728Tyr)
c.2977G>T (p.Asp993Tyr)
c.2941G>T (p.Asp981Tyr)
 gnomAD v4
4g.54290335A>CCA356895956PDGFRAc.2903A>C (p.Asp968Ala)
c.2183A>C (p.Asp728Ala)
c.2978A>C (p.Asp993Ala)
c.2942A>C (p.Asp981Ala)
4g.54290335A>GCA356895954PDGFRAc.2903A>G (p.Asp968Gly)
c.2183A>G (p.Asp728Gly)
c.2978A>G (p.Asp993Gly)
c.2942A>G (p.Asp981Gly)
4g.54290335A>TCA356895955PDGFRAc.2903A>T (p.Asp968Val)
c.2183A>T (p.Asp728Val)
c.2978A>T (p.Asp993Val)
c.2942A>T (p.Asp981Val)
 dbSNP
4g.54290336C>ACA356895957PDGFRAc.2904C>A (p.Asp968Glu)
c.2184C>A (p.Asp728Glu)
c.2979C>A (p.Asp993Glu)
c.2943C>A (p.Asp981Glu)
 gnomAD v4
4g.54290336C=CA1458540601PDGFRAc.2904C= (p.Asp968=)
c.2184C= (p.Asp728=)
c.2979C= (p.Asp993=)
c.2943C= (p.Asp981=)
4g.54290336C>GCA356895958PDGFRAc.2904C>G (p.Asp968Glu)
c.2184C>G (p.Asp728Glu)
c.2979C>G (p.Asp993Glu)
c.2943C>G (p.Asp981Glu)
4g.54290336C>TCA439408776PDGFRAc.2904C>T (p.Asp968=)
c.2184C>T (p.Asp728=)
c.2979C>T (p.Asp993=)
c.2943C>T (p.Asp981=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.54290337T>ACA356895959PDGFRAc.2905T>A (p.Phe969Ile)
c.2185T>A (p.Phe729Ile)
c.2980T>A (p.Phe994Ile)
c.2944T>A (p.Phe982Ile)
4g.54290337T>CCA356895960PDGFRAc.2905T>C (p.Phe969Leu)
c.2185T>C (p.Phe729Leu)
c.2980T>C (p.Phe994Leu)
c.2944T>C (p.Phe982Leu)
4g.54290337T>GCA356895961PDGFRAc.2905T>G (p.Phe969Val)
c.2185T>G (p.Phe729Val)
c.2980T>G (p.Phe994Val)
c.2944T>G (p.Phe982Val)
4g.54290338T>ACA356895962PDGFRAc.2906T>A (p.Phe969Tyr)
c.2186T>A (p.Phe729Tyr)
c.2981T>A (p.Phe994Tyr)
c.2945T>A (p.Phe982Tyr)
4g.54290338T>CCA356895963PDGFRAc.2906T>C (p.Phe969Ser)
c.2186T>C (p.Phe729Ser)
c.2981T>C (p.Phe994Ser)
c.2945T>C (p.Phe982Ser)
4g.54290338T>GCA356895964PDGFRAc.2906T>G (p.Phe969Cys)
c.2186T>G (p.Phe729Cys)
c.2981T>G (p.Phe994Cys)
c.2945T>G (p.Phe982Cys)
4g.54290339C>ACA2922990PDGFRAc.2907C>A (p.Phe969Leu)
c.2187C>A (p.Phe729Leu)
c.2982C>A (p.Phe994Leu)
c.2946C>A (p.Phe982Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.54290339C=CA1458540605PDGFRAc.2907C= (p.Phe969=)
c.2187C= (p.Phe729=)
c.2982C= (p.Phe994=)
c.2946C= (p.Phe982=)
4g.54290339C>GCA356895965PDGFRAc.2907C>G (p.Phe969Leu)
c.2187C>G (p.Phe729Leu)
c.2982C>G (p.Phe994Leu)
c.2946C>G (p.Phe982Leu)
 ClinVar
4g.54290339C>TCA96830093PDGFRAc.2907C>T (p.Phe969=)
c.2187C>T (p.Phe729=)
c.2982C>T (p.Phe994=)
c.2946C>T (p.Phe982=)
 dbSNP COSMIC
4g.54290340C>ACA356895967PDGFRAc.2908C>A (p.Leu970Met)
c.2188C>A (p.Leu730Met)
c.2983C>A (p.Leu995Met)
c.2947C>A (p.Leu983Met)
4g.54290340C>GCA356895966PDGFRAc.2908C>G (p.Leu970Val)
c.2188C>G (p.Leu730Val)
c.2983C>G (p.Leu995Val)
c.2947C>G (p.Leu983Val)
4g.54290340C>TCA439408777PDGFRAc.2908C>T (p.Leu970=)
c.2188C>T (p.Leu730=)
c.2983C>T (p.Leu995=)
c.2947C>T (p.Leu983=)
4g.54290341T>ACA356895968PDGFRAc.2909T>A (p.Leu970Gln)
c.2189T>A (p.Leu730Gln)
c.2984T>A (p.Leu995Gln)
c.2948T>A (p.Leu983Gln)
 ClinVar dbSNP
4g.54290341T>CCA356895969PDGFRAc.2909T>C (p.Leu970Pro)
c.2189T>C (p.Leu730Pro)
c.2984T>C (p.Leu995Pro)
c.2948T>C (p.Leu983Pro)
 ClinVar dbSNP
4g.54290341T>GCA356895970PDGFRAc.2909T>G (p.Leu970Arg)
c.2189T>G (p.Leu730Arg)
c.2984T>G (p.Leu995Arg)
c.2948T>G (p.Leu983Arg)
4g.54290341T=CA1458540611PDGFRAc.2909T= (p.Leu970=)
c.2189T= (p.Leu730=)
c.2984T= (p.Leu995=)
c.2948T= (p.Leu983=)
4g.54290342G>ACA439408780PDGFRAc.2910G>A (p.Leu970=)
c.2190G>A (p.Leu730=)
c.2985G>A (p.Leu995=)
c.2949G>A (p.Leu983=)
 ClinVar gnomAD v4
4g.54290342G>CCA439408779PDGFRAc.2910G>C (p.Leu970=)
c.2190G>C (p.Leu730=)
c.2985G>C (p.Leu995=)
c.2949G>C (p.Leu983=)
 ClinVar dbSNP
4g.54290342G=CA1458540616PDGFRAc.2910G= (p.Leu970=)
c.2190G= (p.Leu730=)
c.2985G= (p.Leu995=)
c.2949G= (p.Leu983=)
4g.54290342G>TCA439408778PDGFRAc.2910G>T (p.Leu970=)
c.2190G>T (p.Leu730=)
c.2985G>T (p.Leu995=)
c.2949G>T (p.Leu983=)
 dbSNP
4g.54290343A>CCA356895971PDGFRAc.2911A>C (p.Lys971Gln)
c.2191A>C (p.Lys731Gln)
c.2986A>C (p.Lys996Gln)
c.2950A>C (p.Lys984Gln)
4g.54290343A>GCA356895972PDGFRAc.2911A>G (p.Lys971Glu)
c.2191A>G (p.Lys731Glu)
c.2986A>G (p.Lys996Glu)
c.2950A>G (p.Lys984Glu)
4g.54290343A>TCA356895973PDGFRAc.2911A>T (p.Lys971Ter)
c.2191A>T (p.Lys731Ter)
c.2986A>T (p.Lys996Ter)
c.2950A>T (p.Lys984Ter)
4g.54290344A=CA1458540620PDGFRAc.2912A= (p.Lys971=)
c.2192A= (p.Lys731=)
c.2987A= (p.Lys996=)
c.2951A= (p.Lys984=)
4g.54290344A>CCA356895974PDGFRAc.2912A>C (p.Lys971Thr)
c.2192A>C (p.Lys731Thr)
c.2987A>C (p.Lys996Thr)
c.2951A>C (p.Lys984Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.54290344A>GCA356895975PDGFRAc.2912A>G (p.Lys971Arg)
c.2192A>G (p.Lys731Arg)
c.2987A>G (p.Lys996Arg)
c.2951A>G (p.Lys984Arg)
4g.54290344A>TCA356895976PDGFRAc.2912A>T (p.Lys971Met)
c.2192A>T (p.Lys731Met)
c.2987A>T (p.Lys996Met)
c.2951A>T (p.Lys984Met)
4g.54290345G>ACA439408781PDGFRAc.2913G>A (p.Lys971=)
c.2193G>A (p.Lys731=)
c.2988G>A (p.Lys996=)
c.2952G>A (p.Lys984=)
 COSMIC
4g.54290345G>CCA356895977PDGFRAc.2913G>C (p.Lys971Asn)
c.2193G>C (p.Lys731Asn)
c.2988G>C (p.Lys996Asn)
c.2952G>C (p.Lys984Asn)
4g.54290345G=CA1458540627PDGFRAc.2913G= (p.Lys971=)
c.2193G= (p.Lys731=)
c.2988G= (p.Lys996=)
c.2952G= (p.Lys984=)
4g.54290345G>TCA356895978PDGFRAc.2913G>T (p.Lys971Asn)
c.2193G>T (p.Lys731Asn)
c.2988G>T (p.Lys996Asn)
c.2952G>T (p.Lys984Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.54290346A=CA1458540632PDGFRAc.2914A= (p.Ser972=)
c.2194A= (p.Ser732=)
c.2989A= (p.Ser997=)
c.2953A= (p.Ser985=)
4g.54290346A>CCA356895979PDGFRAc.2914A>C (p.Ser972Arg)
c.2194A>C (p.Ser732Arg)
c.2989A>C (p.Ser997Arg)
c.2953A>C (p.Ser985Arg)
4g.54290346A>GCA356895980PDGFRAc.2914A>G (p.Ser972Gly)
c.2194A>G (p.Ser732Gly)
c.2989A>G (p.Ser997Gly)
c.2953A>G (p.Ser985Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.54290346A>TCA356895981PDGFRAc.2914A>T (p.Ser972Cys)
c.2194A>T (p.Ser732Cys)
c.2989A>T (p.Ser997Cys)
c.2953A>T (p.Ser985Cys)
4g.54290347G>ACA356895983PDGFRAc.2915G>A (p.Ser972Asn)
c.2195G>A (p.Ser732Asn)
c.2990G>A (p.Ser997Asn)
c.2954G>A (p.Ser985Asn)
4g.54290347G>CCA356895984PDGFRAc.2915G>C (p.Ser972Thr)
c.2195G>C (p.Ser732Thr)
c.2990G>C (p.Ser997Thr)
c.2954G>C (p.Ser985Thr)
4g.54290347G>TCA356895982PDGFRAc.2915G>T (p.Ser972Ile)
c.2195G>T (p.Ser732Ile)
c.2990G>T (p.Ser997Ile)
c.2954G>T (p.Ser985Ile)
4g.54290348T>ACA356895985PDGFRAc.2916T>A (p.Ser972Arg)
c.2196T>A (p.Ser732Arg)
c.2991T>A (p.Ser997Arg)
c.2955T>A (p.Ser985Arg)
4g.54290348T>CCA439408782PDGFRAc.2916T>C (p.Ser972=)
c.2196T>C (p.Ser732=)
c.2991T>C (p.Ser997=)
c.2955T>C (p.Ser985=)
 dbSNP gnomAD v2 COSMIC
4g.54290348T>GCA356895986PDGFRAc.2916T>G (p.Ser972Arg)
c.2196T>G (p.Ser732Arg)
c.2991T>G (p.Ser997Arg)
c.2955T>G (p.Ser985Arg)
4g.54290348T=CA1458540638PDGFRAc.2916T= (p.Ser972=)
c.2196T= (p.Ser732=)
c.2991T= (p.Ser997=)
c.2955T= (p.Ser985=)
4g.54290349G>ACA356895987PDGFRAc.2917G>A (p.Asp973Asn)
c.2197G>A (p.Asp733Asn)
c.2992G>A (p.Asp998Asn)
c.2956G>A (p.Asp986Asn)
 gnomAD v4
4g.54290349G>CCA356895988PDGFRAc.2917G>C (p.Asp973His)
c.2197G>C (p.Asp733His)
c.2992G>C (p.Asp998His)
c.2956G>C (p.Asp986His)
4g.54290349G>TCA356895989PDGFRAc.2917G>T (p.Asp973Tyr)
c.2197G>T (p.Asp733Tyr)
c.2992G>T (p.Asp998Tyr)
c.2956G>T (p.Asp986Tyr)
4g.54290350A=CA1458540641PDGFRAc.2918A= (p.Asp973=)
c.2198A= (p.Asp733=)
c.2993A= (p.Asp998=)
c.2957A= (p.Asp986=)
4g.54290350A>CCA356895990PDGFRAc.2918A>C (p.Asp973Ala)
c.2198A>C (p.Asp733Ala)
c.2993A>C (p.Asp998Ala)
c.2957A>C (p.Asp986Ala)
4g.54290350A>GCA356895991PDGFRAc.2918A>G (p.Asp973Gly)
c.2198A>G (p.Asp733Gly)
c.2993A>G (p.Asp998Gly)
c.2957A>G (p.Asp986Gly)
 ClinVar dbSNP
4g.54290350A>TCA356895992PDGFRAc.2918A>T (p.Asp973Val)
c.2198A>T (p.Asp733Val)
c.2993A>T (p.Asp998Val)
c.2957A>T (p.Asp986Val)
 dbSNP
4g.54290351C>ACA356895993PDGFRAc.2919C>A (p.Asp973Glu)
c.2199C>A (p.Asp733Glu)
c.2994C>A (p.Asp998Glu)
c.2958C>A (p.Asp986Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.54290351C=CA1458540645PDGFRAc.2919C= (p.Asp973=)
c.2199C= (p.Asp733=)
c.2994C= (p.Asp998=)
c.2958C= (p.Asp986=)
4g.54290351C>GCA356895994PDGFRAc.2919C>G (p.Asp973Glu)
c.2199C>G (p.Asp733Glu)
c.2994C>G (p.Asp998Glu)
c.2958C>G (p.Asp986Glu)
 dbSNP
4g.54290351C>TCA439408783PDGFRAc.2919C>T (p.Asp973=)
c.2199C>T (p.Asp733=)
c.2994C>T (p.Asp998=)
c.2958C>T (p.Asp986=)
4g.54290352C>ACA356895995PDGFRAc.2920C>A (p.His974Asn)
c.2200C>A (p.His734Asn)
c.2995C>A (p.His999Asn)
c.2959C>A (p.His987Asn)
4g.54290352C>GCA356895996PDGFRAc.2920C>G (p.His974Asp)
c.2200C>G (p.His734Asp)
c.2995C>G (p.His999Asp)
c.2959C>G (p.His987Asp)
4g.54290352C>TCA356895997PDGFRAc.2920C>T (p.His974Tyr)
c.2200C>T (p.His734Tyr)
c.2995C>T (p.His999Tyr)
c.2959C>T (p.His987Tyr)
 ClinVar
4g.54290353A>CCA356896000PDGFRAc.2921A>C (p.His974Pro)
c.2201A>C (p.His734Pro)
c.2996A>C (p.His999Pro)
c.2960A>C (p.His987Pro)
4g.54290353A>GCA356895998PDGFRAc.2921A>G (p.His974Arg)
c.2201A>G (p.His734Arg)
c.2996A>G (p.His999Arg)
c.2960A>G (p.His987Arg)
4g.54290353A>TCA356895999PDGFRAc.2921A>T (p.His974Leu)
c.2201A>T (p.His734Leu)
c.2996A>T (p.His999Leu)
c.2960A>T (p.His987Leu)
4g.54290354T>ACA356896001PDGFRAc.2922T>A (p.His974Gln)
c.2202T>A (p.His734Gln)
c.2997T>A (p.His999Gln)
c.2961T>A (p.His987Gln)
 ClinVar
4g.54290354T>CCA439408784PDGFRAc.2922T>C (p.His974=)
c.2202T>C (p.His734=)
c.2997T>C (p.His999=)
c.2961T>C (p.His987=)
 ClinVar
4g.54290354T>GCA356896002PDGFRAc.2922T>G (p.His974Gln)
c.2202T>G (p.His734Gln)
c.2997T>G (p.His999Gln)
c.2961T>G (p.His987Gln)
4g.54290355C>ACA356896003PDGFRAc.2923C>A (p.Pro975Thr)
c.2203C>A (p.Pro735Thr)
c.2998C>A (p.Pro1000Thr)
c.2962C>A (p.Pro988Thr)
 gnomAD v4
4g.54290355C>GCA356896004PDGFRAc.2923C>G (p.Pro975Ala)
c.2203C>G (p.Pro735Ala)
c.2998C>G (p.Pro1000Ala)
c.2962C>G (p.Pro988Ala)
4g.54290355C>TCA356896005PDGFRAc.2923C>T (p.Pro975Ser)
c.2203C>T (p.Pro735Ser)
c.2998C>T (p.Pro1000Ser)
c.2962C>T (p.Pro988Ser)
 ClinVar COSMIC
4g.54290356C>ACA356896006PDGFRAc.2924C>A (p.Pro975His)
c.2204C>A (p.Pro735His)
c.2999C>A (p.Pro1000His)
c.2963C>A (p.Pro988His)
4g.54290356C>GCA356896007PDGFRAc.2924C>G (p.Pro975Arg)
c.2204C>G (p.Pro735Arg)
c.2999C>G (p.Pro1000Arg)
c.2963C>G (p.Pro988Arg)
4g.54290356C>TCA356896008PDGFRAc.2924C>T (p.Pro975Leu)
c.2204C>T (p.Pro735Leu)
c.2999C>T (p.Pro1000Leu)
c.2963C>T (p.Pro988Leu)
4g.54290357T>ACA439408785PDGFRAc.2925T>A (p.Pro975=)
c.2205T>A (p.Pro735=)
c.3000T>A (p.Pro1000=)
c.2964T>A (p.Pro988=)
4g.54290357T>CCA439408786PDGFRAc.2925T>C (p.Pro975=)
c.2205T>C (p.Pro735=)
c.3000T>C (p.Pro1000=)
c.2964T>C (p.Pro988=)
4g.54290357T>GCA439408787PDGFRAc.2925T>G (p.Pro975=)
c.2205T>G (p.Pro735=)
c.3000T>G (p.Pro1000=)
c.2964T>G (p.Pro988=)
4g.54290358G>ACA356896009PDGFRAc.2926G>A (p.Ala976Thr)
c.2206G>A (p.Ala736Thr)
c.3001G>A (p.Ala1001Thr)
c.2965G>A (p.Ala989Thr)
 ClinVar dbSNP
4g.54290358G>CCA96830097PDGFRAc.2926G>C (p.Ala976Pro)
c.2206G>C (p.Ala736Pro)
c.3001G>C (p.Ala1001Pro)
c.2965G>C (p.Ala989Pro)
 ClinVar dbSNP
4g.54290358G=CA1458540651PDGFRAc.2926G= (p.Ala976=)
c.2206G= (p.Ala736=)
c.3001G= (p.Ala1001=)
c.2965G= (p.Ala989=)
4g.54290358G>TCA356896010PDGFRAc.2926G>T (p.Ala976Ser)
c.2206G>T (p.Ala736Ser)
c.3001G>T (p.Ala1001Ser)
c.2965G>T (p.Ala989Ser)
 gnomAD v4
4g.54290359C>ACA356896012PDGFRAc.2927C>A (p.Ala976Asp)
c.2207C>A (p.Ala736Asp)
c.3002C>A (p.Ala1001Asp)
c.2966C>A (p.Ala989Asp)
4g.54290359C>GCA356896013PDGFRAc.2927C>G (p.Ala976Gly)
c.2207C>G (p.Ala736Gly)
c.3002C>G (p.Ala1001Gly)
c.2966C>G (p.Ala989Gly)
4g.54290359C>TCA356896011PDGFRAc.2927C>T (p.Ala976Val)
c.2207C>T (p.Ala736Val)
c.3002C>T (p.Ala1001Val)
c.2966C>T (p.Ala989Val)
 dbSNP
4g.54290360T>ACA439408788PDGFRAc.2928T>A (p.Ala976=)
c.2208T>A (p.Ala736=)
c.3003T>A (p.Ala1001=)
c.2967T>A (p.Ala989=)
4g.54290360T>CCA439408790PDGFRAc.2928T>C (p.Ala976=)
c.2208T>C (p.Ala736=)
c.3003T>C (p.Ala1001=)
c.2967T>C (p.Ala989=)
4g.54290360T>GCA439408789PDGFRAc.2928T>G (p.Ala976=)
c.2208T>G (p.Ala736=)
c.3003T>G (p.Ala1001=)
c.2967T>G (p.Ala989=)
4g.54290361G>ACA356896014PDGFRAc.2929G>A (p.Val977Met)
c.2209G>A (p.Val737Met)
c.3004G>A (p.Val1002Met)
c.2968G>A (p.Val990Met)
 dbSNP gnomAD v3 gnomAD v4
4g.54290361G>CCA356896015PDGFRAc.2929G>C (p.Val977Leu)
c.2209G>C (p.Val737Leu)
c.3004G>C (p.Val1002Leu)
c.2968G>C (p.Val990Leu)
 dbSNP
4g.54290361G=CA1458540658PDGFRAc.2929G= (p.Val977=)
c.2209G= (p.Val737=)
c.3004G= (p.Val1002=)
c.2968G= (p.Val990=)
4g.54290361G>TCA356896016PDGFRAc.2929G>T (p.Val977Leu)
c.2209G>T (p.Val737Leu)
c.3004G>T (p.Val1002Leu)
c.2968G>T (p.Val990Leu)
4g.54290362T>ACA356896017PDGFRAc.2930T>A (p.Val977Glu)
c.2210T>A (p.Val737Glu)
c.3005T>A (p.Val1002Glu)
c.2969T>A (p.Val990Glu)
 dbSNP
4g.54290362T>CCA356896018PDGFRAc.2930T>C (p.Val977Ala)
c.2210T>C (p.Val737Ala)
c.3005T>C (p.Val1002Ala)
c.2969T>C (p.Val990Ala)
 gnomAD v4
4g.54290362T>GCA96830099PDGFRAc.2930T>G (p.Val977Gly)
c.2210T>G (p.Val737Gly)
c.3005T>G (p.Val1002Gly)
c.2969T>G (p.Val990Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.54290362T=CA1458540664PDGFRAc.2930T= (p.Val977=)
c.2210T= (p.Val737=)
c.3005T= (p.Val1002=)
c.2969T= (p.Val990=)
4g.54290363G>ACA2922991PDGFRAc.2931G>A (p.Val977=)
c.2211G>A (p.Val737=)
c.3006G>A (p.Val1002=)
c.2970G>A (p.Val990=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.54290363G>CCA439408791PDGFRAc.2931G>C (p.Val977=)
c.2211G>C (p.Val737=)
c.3006G>C (p.Val1002=)
c.2970G>C (p.Val990=)
4g.54290363G=CA1458540669PDGFRAc.2931G= (p.Val977=)
c.2211G= (p.Val737=)
c.3006G= (p.Val1002=)
c.2970G= (p.Val990=)
4g.54290363G>TCA439408792PDGFRAc.2931G>T (p.Val977=)
c.2211G>T (p.Val737=)
c.3006G>T (p.Val1002=)
c.2970G>T (p.Val990=)
 dbSNP
4g.54290364delCA2739265915PDGFRAc.2932del (p.Ala978HisfsTer23)
c.2212del (p.Ala738HisfsTer23)
c.3007del (p.Ala1003HisfsTer23)
c.2971del (p.Ala991HisfsTer23)
 ClinVar
4g.54290364G>ACA356896019PDGFRAc.2932G>A (p.Ala978Thr)
c.2212G>A (p.Ala738Thr)
c.3007G>A (p.Ala1003Thr)
c.2971G>A (p.Ala991Thr)
 ClinVar dbSNP
4g.54290364G>CCA356896020PDGFRAc.2932G>C (p.Ala978Pro)
c.2212G>C (p.Ala738Pro)
c.3007G>C (p.Ala1003Pro)
c.2971G>C (p.Ala991Pro)
4g.54290364G=CA1458540675PDGFRAc.2932G= (p.Ala978=)
c.2212G= (p.Ala738=)
c.3007G= (p.Ala1003=)
c.2971G= (p.Ala991=)
4g.54290364G>TCA2922992PDGFRAc.2932G>T (p.Ala978Ser)
c.2212G>T (p.Ala738Ser)
c.3007G>T (p.Ala1003Ser)
c.2971G>T (p.Ala991Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.54290365C>ACA356896021PDGFRAc.2933C>A (p.Ala978Glu)
c.2213C>A (p.Ala738Glu)
c.3008C>A (p.Ala1003Glu)
c.2972C>A (p.Ala991Glu)
4g.54290365C=CA1458540683PDGFRAc.2933C= (p.Ala978=)
c.2213C= (p.Ala738=)
c.3008C= (p.Ala1003=)
c.2972C= (p.Ala991=)
4g.54290365C>GCA356896022PDGFRAc.2933C>G (p.Ala978Gly)
c.2213C>G (p.Ala738Gly)
c.3008C>G (p.Ala1003Gly)
c.2972C>G (p.Ala991Gly)
 ClinVar dbSNP
4g.54290365C>TCA356896023PDGFRAc.2933C>T (p.Ala978Val)
c.2213C>T (p.Ala738Val)
c.3008C>T (p.Ala1003Val)
c.2972C>T (p.Ala991Val)
 dbSNP
4g.54290366A=CA1458540686PDGFRAc.2934A= (p.Ala978=)
c.2214A= (p.Ala738=)
c.3009A= (p.Ala1003=)
c.2973A= (p.Ala991=)
4g.54290366A>CCA439408793PDGFRAc.2934A>C (p.Ala978=)
c.2214A>C (p.Ala738=)
c.3009A>C (p.Ala1003=)
c.2973A>C (p.Ala991=)
4g.54290366A>GCA439408795PDGFRAc.2934A>G (p.Ala978=)
c.2214A>G (p.Ala738=)
c.3009A>G (p.Ala1003=)
c.2973A>G (p.Ala991=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.54290366A>TCA439408794PDGFRAc.2934A>T (p.Ala978=)
c.2214A>T (p.Ala738=)
c.3009A>T (p.Ala1003=)
c.2973A>T (p.Ala991=)
4g.54290367C>ACA356896025PDGFRAc.2935C>A (p.Arg979Ser)
c.2215C>A (p.Arg739Ser)
c.3010C>A (p.Arg1004Ser)
c.2974C>A (p.Arg992Ser)
4g.54290367C=CA1458540693PDGFRAc.2935C= (p.Arg979=)
c.2215C= (p.Arg739=)
c.3010C= (p.Arg1004=)
c.2974C= (p.Arg992=)
4g.54290367C>GCA356896024PDGFRAc.2935C>G (p.Arg979Gly)
c.2215C>G (p.Arg739Gly)
c.3010C>G (p.Arg1004Gly)
c.2974C>G (p.Arg992Gly)
 dbSNP
4g.54290367C>TCA161417PDGFRAc.2935C>T (p.Arg979Cys)
c.2215C>T (p.Arg739Cys)
c.3010C>T (p.Arg1004Cys)
c.2974C>T (p.Arg992Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290368G>ACA161420PDGFRAc.2936G>A (p.Arg979His)
c.2216G>A (p.Arg739His)
c.3011G>A (p.Arg1004His)
c.2975G>A (p.Arg992His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.54290368G>CCA356896026PDGFRAc.2936G>C (p.Arg979Pro)
c.2216G>C (p.Arg739Pro)
c.3011G>C (p.Arg1004Pro)
c.2975G>C (p.Arg992Pro)
4g.54290368G=CA1458540702PDGFRAc.2936G= (p.Arg979=)
c.2216G= (p.Arg739=)
c.3011G= (p.Arg1004=)
c.2975G= (p.Arg992=)
4g.54290368G>TCA356896027PDGFRAc.2936G>T (p.Arg979Leu)
c.2216G>T (p.Arg739Leu)
c.3011G>T (p.Arg1004Leu)
c.2975G>T (p.Arg992Leu)
 ClinVar dbSNP gnomAD v4
4g.54290369C>ACA439408796PDGFRAc.2937C>A (p.Arg979=)
c.2217C>A (p.Arg739=)
c.3012C>A (p.Arg1004=)
c.2976C>A (p.Arg992=)
4g.54290369C=CA1458540709PDGFRAc.2937C= (p.Arg979=)
c.2217C= (p.Arg739=)
c.3012C= (p.Arg1004=)
c.2976C= (p.Arg992=)
4g.54290369C>GCA439408797PDGFRAc.2937C>G (p.Arg979=)
c.2217C>G (p.Arg739=)
c.3012C>G (p.Arg1004=)
c.2976C>G (p.Arg992=)
4g.54290369C>TCA439408798PDGFRAc.2937C>T (p.Arg979=)
c.2217C>T (p.Arg739=)
c.3012C>T (p.Arg1004=)
c.2976C>T (p.Arg992=)
 ClinVar dbSNP
4g.54290370A=CA1458540715PDGFRAc.2938A= (p.Met980=)
c.2218A= (p.Met740=)
c.3013A= (p.Met1005=)
c.2977A= (p.Met993=)
4g.54290370A>CCA356896028PDGFRAc.2938A>C (p.Met980Leu)
c.2218A>C (p.Met740Leu)
c.3013A>C (p.Met1005Leu)
c.2977A>C (p.Met993Leu)
4g.54290370A>GCA2922993PDGFRAc.2938A>G (p.Met980Val)
c.2218A>G (p.Met740Val)
c.3013A>G (p.Met1005Val)
c.2977A>G (p.Met993Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.54290370A>TCA356896029PDGFRAc.2938A>T (p.Met980Leu)
c.2218A>T (p.Met740Leu)
c.3013A>T (p.Met1005Leu)
c.2977A>T (p.Met993Leu)
 ClinVar
4g.54290371T>ACA356896030PDGFRAc.2939T>A (p.Met980Lys)
c.2219T>A (p.Met740Lys)
c.3014T>A (p.Met1005Lys)
c.2978T>A (p.Met993Lys)
 gnomAD v4
4g.54290371T>CCA356896031PDGFRAc.2939T>C (p.Met980Thr)
c.2219T>C (p.Met740Thr)
c.3014T>C (p.Met1005Thr)
c.2978T>C (p.Met993Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.54290371T>GCA356896032PDGFRAc.2939T>G (p.Met980Arg)
c.2219T>G (p.Met740Arg)
c.3014T>G (p.Met1005Arg)
c.2978T>G (p.Met993Arg)
4g.54290371T=CA1458540725PDGFRAc.2939T= (p.Met980=)
c.2219T= (p.Met740=)
c.3014T= (p.Met1005=)
c.2978T= (p.Met993=)
4g.54290372G>ACA356896033PDGFRAc.2940G>A (p.Met980Ile)
c.2220G>A (p.Met740Ile)
c.3015G>A (p.Met1005Ile)
c.2979G>A (p.Met993Ile)
 ClinVar gnomAD v4 COSMIC
4g.54290372G>CCA356896034PDGFRAc.2940G>C (p.Met980Ile)
c.2220G>C (p.Met740Ile)
c.3015G>C (p.Met1005Ile)
c.2979G>C (p.Met993Ile)
4g.54290372G>TCA356896035PDGFRAc.2940G>T (p.Met980Ile)
c.2220G>T (p.Met740Ile)
c.3015G>T (p.Met1005Ile)
c.2979G>T (p.Met993Ile)
4g.54290373C>ACA356896037PDGFRAc.2941C>A (p.Arg981Ser)
c.2221C>A (p.Arg741Ser)
c.3016C>A (p.Arg1006Ser)
c.2980C>A (p.Arg994Ser)
 dbSNP
4g.54290373C=CA1458540732PDGFRAc.2941C= (p.Arg981=)
c.2221C= (p.Arg741=)
c.3016C= (p.Arg1006=)
c.2980C= (p.Arg994=)
4g.54290373C>GCA356896036PDGFRAc.2941C>G (p.Arg981Gly)
c.2221C>G (p.Arg741Gly)
c.3016C>G (p.Arg1006Gly)
c.2980C>G (p.Arg994Gly)
 ClinVar dbSNP gnomAD v4
4g.54290373C>TCA2922994PDGFRAc.2941C>T (p.Arg981Cys)
c.2221C>T (p.Arg741Cys)
c.3016C>T (p.Arg1006Cys)
c.2980C>T (p.Arg994Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290374G>ACA2922995PDGFRAc.2942G>A (p.Arg981His)
c.2222G>A (p.Arg741His)
c.3017G>A (p.Arg1006His)
c.2981G>A (p.Arg994His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.54290374G>CCA2922996PDGFRAc.2942G>C (p.Arg981Pro)
c.2222G>C (p.Arg741Pro)
c.3017G>C (p.Arg1006Pro)
c.2981G>C (p.Arg994Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.54290374G=CA1458540747PDGFRAc.2942G= (p.Arg981=)
c.2222G= (p.Arg741=)
c.3017G= (p.Arg1006=)
c.2981G= (p.Arg994=)
4g.54290374G>TCA356896038PDGFRAc.2942G>T (p.Arg981Leu)
c.2222G>T (p.Arg741Leu)
c.3017G>T (p.Arg1006Leu)
c.2981G>T (p.Arg994Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.54290375T>ACA439408800PDGFRAc.2943T>A (p.Arg981=)
c.2223T>A (p.Arg741=)
c.3018T>A (p.Arg1006=)
c.2982T>A (p.Arg994=)
 COSMIC
4g.54290375T>CCA439408799PDGFRAc.2943T>C (p.Arg981=)
c.2223T>C (p.Arg741=)
c.3018T>C (p.Arg1006=)
c.2982T>C (p.Arg994=)
4g.54290375T>GCA2922997PDGFRAc.2943T>G (p.Arg981=)
c.2223T>G (p.Arg741=)
c.3018T>G (p.Arg1006=)
c.2982T>G (p.Arg994=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290375T=CA1458540751PDGFRAc.2943T= (p.Arg981=)
c.2223T= (p.Arg741=)
c.3018T= (p.Arg1006=)
c.2982T= (p.Arg994=)
4g.54290376G>ACA356896040PDGFRAc.2944G>A (p.Val982Met)
c.2224G>A (p.Val742Met)
c.3019G>A (p.Val1007Met)
c.2983G>A (p.Val995Met)
 ClinVar dbSNP
4g.54290376G>CCA356896039PDGFRAc.2944G>C (p.Val982Leu)
c.2224G>C (p.Val742Leu)
c.3019G>C (p.Val1007Leu)
c.2983G>C (p.Val995Leu)
4g.54290376G=CA1458540754PDGFRAc.2944G= (p.Val982=)
c.2224G= (p.Val742=)
c.3019G= (p.Val1007=)
c.2983G= (p.Val995=)
4g.54290376G>TCA356896041PDGFRAc.2944G>T (p.Val982Leu)
c.2224G>T (p.Val742Leu)
c.3019G>T (p.Val1007Leu)
c.2983G>T (p.Val995Leu)
 COSMIC
4g.54290377T>ACA356896042PDGFRAc.2945T>A (p.Val982Glu)
c.2225T>A (p.Val742Glu)
c.3020T>A (p.Val1007Glu)
c.2984T>A (p.Val995Glu)
4g.54290377T>CCA356896043PDGFRAc.2945T>C (p.Val982Ala)
c.2225T>C (p.Val742Ala)
c.3020T>C (p.Val1007Ala)
c.2984T>C (p.Val995Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.54290377T>GCA356896044PDGFRAc.2945T>G (p.Val982Gly)
c.2225T>G (p.Val742Gly)
c.3020T>G (p.Val1007Gly)
c.2984T>G (p.Val995Gly)
4g.54290377T=CA1458540761PDGFRAc.2945T= (p.Val982=)
c.2225T= (p.Val742=)
c.3020T= (p.Val1007=)
c.2984T= (p.Val995=)
4g.54290378G>ACA439408801PDGFRAc.2946G>A (p.Val982=)
c.2226G>A (p.Val742=)
c.3021G>A (p.Val1007=)
c.2985G>A (p.Val995=)
 ClinVar dbSNP COSMIC
4g.54290378G>CCA439408802PDGFRAc.2946G>C (p.Val982=)
c.2226G>C (p.Val742=)
c.3021G>C (p.Val1007=)
c.2985G>C (p.Val995=)
4g.54290378G=CA1458540767PDGFRAc.2946G= (p.Val982=)
c.2226G= (p.Val742=)
c.3021G= (p.Val1007=)
c.2985G= (p.Val995=)
4g.54290378G>TCA439408803PDGFRAc.2946G>T (p.Val982=)
c.2226G>T (p.Val742=)
c.3021G>T (p.Val1007=)
c.2985G>T (p.Val995=)
4g.54290379G>ACA356896045PDGFRAc.2947G>A (p.Asp983Asn)
c.2227G>A (p.Asp743Asn)
c.3022G>A (p.Asp1008Asn)
c.2986G>A (p.Asp996Asn)
4g.54290379G>CCA356896046PDGFRAc.2947G>C (p.Asp983His)
c.2227G>C (p.Asp743His)
c.3022G>C (p.Asp1008His)
c.2986G>C (p.Asp996His)
 dbSNP
4g.54290379G=CA1458540772PDGFRAc.2947G= (p.Asp983=)
c.2227G= (p.Asp743=)
c.3022G= (p.Asp1008=)
c.2986G= (p.Asp996=)
4g.54290379G>TCA356896047PDGFRAc.2947G>T (p.Asp983Tyr)
c.2227G>T (p.Asp743Tyr)
c.3022G>T (p.Asp1008Tyr)
c.2986G>T (p.Asp996Tyr)
 ClinVar dbSNP gnomAD v4
4g.54290380A>CCA356896048PDGFRAc.2948A>C (p.Asp983Ala)
c.2228A>C (p.Asp743Ala)
c.3023A>C (p.Asp1008Ala)
c.2987A>C (p.Asp996Ala)
4g.54290380A>GCA356896049PDGFRAc.2948A>G (p.Asp983Gly)
c.2228A>G (p.Asp743Gly)
c.3023A>G (p.Asp1008Gly)
c.2987A>G (p.Asp996Gly)
 ClinVar
4g.54290380A>TCA356896050PDGFRAc.2948A>T (p.Asp983Val)
c.2228A>T (p.Asp743Val)
c.3023A>T (p.Asp1008Val)
c.2987A>T (p.Asp996Val)
 dbSNP
4g.54290381C>ACA356896051PDGFRAc.2949C>A (p.Asp983Glu)
c.2229C>A (p.Asp743Glu)
c.3024C>A (p.Asp1008Glu)
c.2988C>A (p.Asp996Glu)
4g.54290381C>GCA356896052PDGFRAc.2949C>G (p.Asp983Glu)
c.2229C>G (p.Asp743Glu)
c.3024C>G (p.Asp1008Glu)
c.2988C>G (p.Asp996Glu)
4g.54290381C>TCA439408804PDGFRAc.2949C>T (p.Asp983=)
c.2229C>T (p.Asp743=)
c.3024C>T (p.Asp1008=)
c.2988C>T (p.Asp996=)
4g.54290382T>ACA356896055PDGFRAc.2950T>A (p.Ser984Thr)
c.2230T>A (p.Ser744Thr)
c.3025T>A (p.Ser1009Thr)
c.2989T>A (p.Ser997Thr)
4g.54290382T>CCA356896054PDGFRAc.2950T>C (p.Ser984Pro)
c.2230T>C (p.Ser744Pro)
c.3025T>C (p.Ser1009Pro)
c.2989T>C (p.Ser997Pro)
 ClinVar
4g.54290382T>GCA356896053PDGFRAc.2950T>G (p.Ser984Ala)
c.2230T>G (p.Ser744Ala)
c.3025T>G (p.Ser1009Ala)
c.2989T>G (p.Ser997Ala)
 ClinVar
4g.54290383C>ACA356896056PDGFRAc.2951C>A (p.Ser984Ter)
c.2231C>A (p.Ser744Ter)
c.3026C>A (p.Ser1009Ter)
c.2990C>A (p.Ser997Ter)
4g.54290383C=CA1458540777PDGFRAc.2951C= (p.Ser984=)
c.2231C= (p.Ser744=)
c.3026C= (p.Ser1009=)
c.2990C= (p.Ser997=)
4g.54290383C>GCA356896057PDGFRAc.2951C>G (p.Ser984Ter)
c.2231C>G (p.Ser744Ter)
c.3026C>G (p.Ser1009Ter)
c.2990C>G (p.Ser997Ter)
4g.54290383C>TCA356896058PDGFRAc.2951C>T (p.Ser984Leu)
c.2231C>T (p.Ser744Leu)
c.3026C>T (p.Ser1009Leu)
c.2990C>T (p.Ser997Leu)
 ClinVar dbSNP
4g.54290384A>CCA439408805PDGFRAc.2952A>C (p.Ser984=)
c.2232A>C (p.Ser744=)
c.3027A>C (p.Ser1009=)
c.2991A>C (p.Ser997=)
4g.54290384A>GCA439408806PDGFRAc.2952A>G (p.Ser984=)
c.2232A>G (p.Ser744=)
c.3027A>G (p.Ser1009=)
c.2991A>G (p.Ser997=)
 dbSNP
4g.54290384A>TCA439408807PDGFRAc.2952A>T (p.Ser984=)
c.2232A>T (p.Ser744=)
c.3027A>T (p.Ser1009=)
c.2991A>T (p.Ser997=)
4g.54290385G>ACA16611567PDGFRAc.2953G>A (p.Asp985Asn)
c.2233G>A (p.Asp745Asn)
c.3028G>A (p.Asp1010Asn)
c.2992G>A (p.Asp998Asn)
 ClinVar dbSNP gnomAD v4 COSMIC
4g.54290385G>CCA356896059PDGFRAc.2953G>C (p.Asp985His)
c.2233G>C (p.Asp745His)
c.3028G>C (p.Asp1010His)
c.2992G>C (p.Asp998His)
4g.54290385G=CA1458540784PDGFRAc.2953G= (p.Asp985=)
c.2233G= (p.Asp745=)
c.3028G= (p.Asp1010=)
c.2992G= (p.Asp998=)
4g.54290385G>TCA356896060PDGFRAc.2953G>T (p.Asp985Tyr)
c.2233G>T (p.Asp745Tyr)
c.3028G>T (p.Asp1010Tyr)
c.2992G>T (p.Asp998Tyr)
4g.54290386A>CCA356896061PDGFRAc.2954A>C (p.Asp985Ala)
c.2234A>C (p.Asp745Ala)
c.3029A>C (p.Asp1010Ala)
c.2993A>C (p.Asp998Ala)
4g.54290386A>GCA356896062PDGFRAc.2954A>G (p.Asp985Gly)
c.2234A>G (p.Asp745Gly)
c.3029A>G (p.Asp1010Gly)
c.2993A>G (p.Asp998Gly)
4g.54290386A>TCA356896063PDGFRAc.2954A>T (p.Asp985Val)
c.2234A>T (p.Asp745Val)
c.3029A>T (p.Asp1010Val)
c.2993A>T (p.Asp998Val)
4g.54290387C>ACA356896064PDGFRAc.2955C>A (p.Asp985Glu)
c.2235C>A (p.Asp745Glu)
c.3030C>A (p.Asp1010Glu)
c.2994C>A (p.Asp998Glu)
 ClinVar dbSNP gnomAD v4
4g.54290387C=CA1458540788PDGFRAc.2955C= (p.Asp985=)
c.2235C= (p.Asp745=)
c.3030C= (p.Asp1010=)
c.2994C= (p.Asp998=)
4g.54290387C>GCA356896065PDGFRAc.2955C>G (p.Asp985Glu)
c.2235C>G (p.Asp745Glu)
c.3030C>G (p.Asp1010Glu)
c.2994C>G (p.Asp998Glu)
 ClinVar
4g.54290387C>TCA2922998PDGFRAc.2955C>T (p.Asp985=)
c.2235C>T (p.Asp745=)
c.3030C>T (p.Asp1010=)
c.2994C>T (p.Asp998=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290388_54290389insCCACA2670668077PDGFRAc.2956_2957insCCA (p.Asp985_Asn986insThr)
c.2236_2237insCCA (p.Asp745_Asn746insThr)
c.3031_3032insCCA (p.Asp1010_Asn1011insThr)
c.2995_2996insCCA (p.Asp998_Asn999insThr)
 gnomAD v4
4g.54290388A>CCA356896068PDGFRAc.2956A>C (p.Asn986His)
c.2236A>C (p.Asn746His)
c.3031A>C (p.Asn1011His)
c.2995A>C (p.Asn999His)
4g.54290388A>GCA356896067PDGFRAc.2956A>G (p.Asn986Asp)
c.2236A>G (p.Asn746Asp)
c.3031A>G (p.Asn1011Asp)
c.2995A>G (p.Asn999Asp)
4g.54290388A>TCA356896066PDGFRAc.2956A>T (p.Asn986Tyr)
c.2236A>T (p.Asn746Tyr)
c.3031A>T (p.Asn1011Tyr)
c.2995A>T (p.Asn999Tyr)
4g.54290389A=CA1458540794PDGFRAc.2957A= (p.Asn986=)
c.2237A= (p.Asn746=)
c.3032A= (p.Asn1011=)
c.2996A= (p.Asn999=)
4g.54290389A>CCA356896069PDGFRAc.2957A>C (p.Asn986Thr)
c.2237A>C (p.Asn746Thr)
c.3032A>C (p.Asn1011Thr)
c.2996A>C (p.Asn999Thr)
4g.54290389A>GCA2922999PDGFRAc.2957A>G (p.Asn986Ser)
c.2237A>G (p.Asn746Ser)
c.3032A>G (p.Asn1011Ser)
c.2996A>G (p.Asn999Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290389A>TCA356896070PDGFRAc.2957A>T (p.Asn986Ile)
c.2237A>T (p.Asn746Ile)
c.3032A>T (p.Asn1011Ile)
c.2996A>T (p.Asn999Ile)
 ClinVar dbSNP
4g.54290390T>ACA356896071PDGFRAc.2958T>A (p.Asn986Lys)
c.2238T>A (p.Asn746Lys)
c.3033T>A (p.Asn1011Lys)
c.2997T>A (p.Asn999Lys)
4g.54290390T>CCA439408808PDGFRAc.2958T>C (p.Asn986=)
c.2238T>C (p.Asn746=)
c.3033T>C (p.Asn1011=)
c.2997T>C (p.Asn999=)
 ClinVar dbSNP
4g.54290390T>GCA2923000PDGFRAc.2958T>G (p.Asn986Lys)
c.2238T>G (p.Asn746Lys)
c.3033T>G (p.Asn1011Lys)
c.2997T>G (p.Asn999Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290390T=CA1458540797PDGFRAc.2958T= (p.Asn986=)
c.2238T= (p.Asn746=)
c.3033T= (p.Asn1011=)
c.2997T= (p.Asn999=)
4g.54290391G>ACA96830135PDGFRAc.2959G>A (p.Ala987Thr)
c.2239G>A (p.Ala747Thr)
c.3034G>A (p.Ala1012Thr)
c.2998G>A (p.Ala1000Thr)
 ClinVar dbSNP gnomAD v4
4g.54290391G>CCA356896072PDGFRAc.2959G>C (p.Ala987Pro)
c.2239G>C (p.Ala747Pro)
c.3034G>C (p.Ala1012Pro)
c.2998G>C (p.Ala1000Pro)
4g.54290391G=CA1458540799PDGFRAc.2959G= (p.Ala987=)
c.2239G= (p.Ala747=)
c.3034G= (p.Ala1012=)
c.2998G= (p.Ala1000=)
4g.54290391G>TCA356896073PDGFRAc.2959G>T (p.Ala987Ser)
c.2239G>T (p.Ala747Ser)
c.3034G>T (p.Ala1012Ser)
c.2998G>T (p.Ala1000Ser)
 gnomAD v4
4g.54290392C>ACA356896074PDGFRAc.2960C>A (p.Ala987Glu)
c.2240C>A (p.Ala747Glu)
c.3035C>A (p.Ala1012Glu)
c.2999C>A (p.Ala1000Glu)
4g.54290392C=CA1458540804PDGFRAc.2960C= (p.Ala987=)
c.2240C= (p.Ala747=)
c.3035C= (p.Ala1012=)
c.2999C= (p.Ala1000=)
4g.54290392C>GCA356896075PDGFRAc.2960C>G (p.Ala987Gly)
c.2240C>G (p.Ala747Gly)
c.3035C>G (p.Ala1012Gly)
c.2999C>G (p.Ala1000Gly)
4g.54290392C>TCA2923001PDGFRAc.2960C>T (p.Ala987Val)
c.2240C>T (p.Ala747Val)
c.3035C>T (p.Ala1012Val)
c.2999C>T (p.Ala1000Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.54290393A>CCA439408809PDGFRAc.2961A>C (p.Ala987=)
c.2241A>C (p.Ala747=)
c.3036A>C (p.Ala1012=)
c.3000A>C (p.Ala1000=)
4g.54290393A>GCA439408810PDGFRAc.2961A>G (p.Ala987=)
c.2241A>G (p.Ala747=)
c.3036A>G (p.Ala1012=)
c.3000A>G (p.Ala1000=)
 gnomAD v4
4g.54290393A>TCA439408811PDGFRAc.2961A>T (p.Ala987=)
c.2241A>T (p.Ala747=)
c.3036A>T (p.Ala1012=)
c.3000A>T (p.Ala1000=)
4g.54290394T>ACA356896078PDGFRAc.2962T>A (p.Tyr988Asn)
c.2242T>A (p.Tyr748Asn)
c.3037T>A (p.Tyr1013Asn)
c.3001T>A (p.Tyr1001Asn)
4g.54290394T>CCA356896077PDGFRAc.2962T>C (p.Tyr988His)
c.2242T>C (p.Tyr748His)
c.3037T>C (p.Tyr1013His)
c.3001T>C (p.Tyr1001His)
 ClinVar dbSNP
4g.54290394T>GCA356896076PDGFRAc.2962T>G (p.Tyr988Asp)
c.2242T>G (p.Tyr748Asp)
c.3037T>G (p.Tyr1013Asp)
c.3001T>G (p.Tyr1001Asp)
4g.54290394T=CA1458540809PDGFRAc.2962T= (p.Tyr988=)
c.2242T= (p.Tyr748=)
c.3037T= (p.Tyr1013=)
c.3001T= (p.Tyr1001=)
4g.54290395A=CA1458540813PDGFRAc.2963A= (p.Tyr988=)
c.2243A= (p.Tyr748=)
c.3038A= (p.Tyr1013=)
c.3002A= (p.Tyr1001=)
4g.54290395A>CCA356896079PDGFRAc.2963A>C (p.Tyr988Ser)
c.2243A>C (p.Tyr748Ser)
c.3038A>C (p.Tyr1013Ser)
c.3002A>C (p.Tyr1001Ser)
4g.54290395A>GCA356896080PDGFRAc.2963A>G (p.Tyr988Cys)
c.2243A>G (p.Tyr748Cys)
c.3038A>G (p.Tyr1013Cys)
c.3002A>G (p.Tyr1001Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.54290395A>TCA356896081PDGFRAc.2963A>T (p.Tyr988Phe)
c.2243A>T (p.Tyr748Phe)
c.3038A>T (p.Tyr1013Phe)
c.3002A>T (p.Tyr1001Phe)
4g.54290396C>ACA356896082PDGFRAc.2964C>A (p.Tyr988Ter)
c.2244C>A (p.Tyr748Ter)
c.3039C>A (p.Tyr1013Ter)
c.3003C>A (p.Tyr1001Ter)
 dbSNP
4g.54290396C=CA1458540817PDGFRAc.2964C= (p.Tyr988=)
c.2244C= (p.Tyr748=)
c.3039C= (p.Tyr1013=)
c.3003C= (p.Tyr1001=)
4g.54290396C>GCA356896083PDGFRAc.2964C>G (p.Tyr988Ter)
c.2244C>G (p.Tyr748Ter)
c.3039C>G (p.Tyr1013Ter)
c.3003C>G (p.Tyr1001Ter)
4g.54290396C>TCA439408812PDGFRAc.2964C>T (p.Tyr988=)
c.2244C>T (p.Tyr748=)
c.3039C>T (p.Tyr1013=)
c.3003C>T (p.Tyr1001=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.54290397A=CA1458540823PDGFRAc.2965A= (p.Ile989=)
c.2245A= (p.Ile749=)
c.3040A= (p.Ile1014=)
c.3004A= (p.Ile1002=)
4g.54290397A>CCA2923002PDGFRAc.2965A>C (p.Ile989Leu)
c.2245A>C (p.Ile749Leu)
c.3040A>C (p.Ile1014Leu)
c.3004A>C (p.Ile1002Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290397A>GCA2923003PDGFRAc.2965A>G (p.Ile989Val)
c.2245A>G (p.Ile749Val)
c.3040A>G (p.Ile1014Val)
c.3004A>G (p.Ile1002Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290397A>TCA356896084PDGFRAc.2965A>T (p.Ile989Phe)
c.2245A>T (p.Ile749Phe)
c.3040A>T (p.Ile1014Phe)
c.3004A>T (p.Ile1002Phe)
4g.54290398T>ACA356896085PDGFRAc.2966T>A (p.Ile989Asn)
c.2246T>A (p.Ile749Asn)
c.3041T>A (p.Ile1014Asn)
c.3005T>A (p.Ile1002Asn)
4g.54290398T>CCA161423PDGFRAc.2966T>C (p.Ile989Thr)
c.2246T>C (p.Ile749Thr)
c.3041T>C (p.Ile1014Thr)
c.3005T>C (p.Ile1002Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.54290398T>GCA356896086PDGFRAc.2966T>G (p.Ile989Ser)
c.2246T>G (p.Ile749Ser)
c.3041T>G (p.Ile1014Ser)
c.3005T>G (p.Ile1002Ser)
 ClinVar dbSNP
4g.54290398T=CA1458540832PDGFRAc.2966T= (p.Ile989=)
c.2246T= (p.Ile749=)
c.3041T= (p.Ile1014=)
c.3005T= (p.Ile1002=)
4g.54290399T>ACA439408813PDGFRAc.2967T>A (p.Ile989=)
c.2247T>A (p.Ile749=)
c.3042T>A (p.Ile1014=)
c.3006T>A (p.Ile1002=)
4g.54290399T>CCA439408814PDGFRAc.2967T>C (p.Ile989=)
c.2247T>C (p.Ile749=)
c.3042T>C (p.Ile1014=)
c.3006T>C (p.Ile1002=)
4g.54290399T>GCA356896087PDGFRAc.2967T>G (p.Ile989Met)
c.2247T>G (p.Ile749Met)
c.3042T>G (p.Ile1014Met)
c.3006T>G (p.Ile1002Met)
4g.54290400G>ACA356896090PDGFRAc.2968G>A (p.Gly990Ser)
c.2248G>A (p.Gly750Ser)
c.3043G>A (p.Gly1015Ser)
c.3007G>A (p.Gly1003Ser)
 gnomAD v4
4g.54290400G>CCA356896089PDGFRAc.2968G>C (p.Gly990Arg)
c.2248G>C (p.Gly750Arg)
c.3043G>C (p.Gly1015Arg)
c.3007G>C (p.Gly1003Arg)
 COSMIC
4g.54290400G>TCA356896088PDGFRAc.2968G>T (p.Gly990Cys)
c.2248G>T (p.Gly750Cys)
c.3043G>T (p.Gly1015Cys)
c.3007G>T (p.Gly1003Cys)
 ClinVar
4g.54290400_54290401insAACATATTTAATCAACA2502159105PDGFRAc.2968_2969insAACATATTTAATCAA (p.Gly990GlufsTer4)
c.2248_2249insAACATATTTAATCAA (p.Gly750GlufsTer4)
c.3043_3044insAACATATTTAATCAA (p.Gly1015GlufsTer4)
c.3007_3008insAACATATTTAATCAA (p.Gly1003GlufsTer4)
4g.54290401G>ACA356896091PDGFRAc.2969G>A (p.Gly990Asp)
c.2249G>A (p.Gly750Asp)
c.3044G>A (p.Gly1015Asp)
c.3008G>A (p.Gly1003Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.54290401G>CCA356896093PDGFRAc.2969G>C (p.Gly990Ala)
c.2249G>C (p.Gly750Ala)
c.3044G>C (p.Gly1015Ala)
c.3008G>C (p.Gly1003Ala)
 ClinVar dbSNP
4g.54290401G=CA1458540840PDGFRAc.2969G= (p.Gly990=)
c.2249G= (p.Gly750=)
c.3044G= (p.Gly1015=)
c.3008G= (p.Gly1003=)
4g.54290401G>TCA356896092PDGFRAc.2969G>T (p.Gly990Val)
c.2249G>T (p.Gly750Val)
c.3044G>T (p.Gly1015Val)
c.3008G>T (p.Gly1003Val)
 ClinVar dbSNP
4g.54290402T>ACA439408815PDGFRAc.2970T>A (p.Gly990=)
c.2250T>A (p.Gly750=)
c.3045T>A (p.Gly1015=)
c.3009T>A (p.Gly1003=)
4g.54290402T>CCA439408816PDGFRAc.2970T>C (p.Gly990=)
c.2250T>C (p.Gly750=)
c.3045T>C (p.Gly1015=)
c.3009T>C (p.Gly1003=)
 ClinVar dbSNP gnomAD v4
4g.54290402T>GCA439408817PDGFRAc.2970T>G (p.Gly990=)
c.2250T>G (p.Gly750=)
c.3045T>G (p.Gly1015=)
c.3009T>G (p.Gly1003=)
4g.54290402T=CA1458540843PDGFRAc.2970T= (p.Gly990=)
c.2250T= (p.Gly750=)
c.3045T= (p.Gly1015=)
c.3009T= (p.Gly1003=)
4g.54290403G>ACA356896094PDGFRAc.2971G>A (p.Val991Ile)
c.2251G>A (p.Val751Ile)
c.3046G>A (p.Val1016Ile)
c.3010G>A (p.Val1004Ile)
 ClinVar dbSNP gnomAD v2
4g.54290403G>CCA356896095PDGFRAc.2971G>C (p.Val991Leu)
c.2251G>C (p.Val751Leu)
c.3046G>C (p.Val1016Leu)
c.3010G>C (p.Val1004Leu)
4g.54290403G=CA1458540847PDGFRAc.2971G= (p.Val991=)
c.2251G= (p.Val751=)
c.3046G= (p.Val1016=)
c.3010G= (p.Val1004=)
4g.54290403G>TCA356896096PDGFRAc.2971G>T (p.Val991Phe)
c.2251G>T (p.Val751Phe)
c.3046G>T (p.Val1016Phe)
c.3010G>T (p.Val1004Phe)
 dbSNP
4g.54290404T>ACA356896097PDGFRAc.2972T>A (p.Val991Asp)
c.2252T>A (p.Val751Asp)
c.3047T>A (p.Val1016Asp)
c.3011T>A (p.Val1004Asp)
4g.54290404T>CCA356896098PDGFRAc.2972T>C (p.Val991Ala)
c.2252T>C (p.Val751Ala)
c.3047T>C (p.Val1016Ala)
c.3011T>C (p.Val1004Ala)
 ClinVar
4g.54290404T>GCA356896099PDGFRAc.2972T>G (p.Val991Gly)
c.2252T>G (p.Val751Gly)
c.3047T>G (p.Val1016Gly)
c.3011T>G (p.Val1004Gly)
4g.54290405C>ACA439408818PDGFRAc.2973C>A (p.Val991=)
c.2253C>A (p.Val751=)
c.3048C>A (p.Val1016=)
c.3012C>A (p.Val1004=)
4g.54290405C=CA1458540852PDGFRAc.2973C= (p.Val991=)
c.2253C= (p.Val751=)
c.3048C= (p.Val1016=)
c.3012C= (p.Val1004=)
4g.54290405C>GCA439408819PDGFRAc.2973C>G (p.Val991=)
c.2253C>G (p.Val751=)
c.3048C>G (p.Val1016=)
c.3012C>G (p.Val1004=)
 dbSNP
4g.54290405C>TCA2923004PDGFRAc.2973C>T (p.Val991=)
c.2253C>T (p.Val751=)
c.3048C>T (p.Val1016=)
c.3012C>T (p.Val1004=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290406A=CA1458540858PDGFRAc.2974A= (p.Thr992=)
c.2254A= (p.Thr752=)
c.3049A= (p.Thr1017=)
c.3013A= (p.Thr1005=)
4g.54290406A>CCA356896100PDGFRAc.2974A>C (p.Thr992Pro)
c.2254A>C (p.Thr752Pro)
c.3049A>C (p.Thr1017Pro)
c.3013A>C (p.Thr1005Pro)
 dbSNP
4g.54290406A>GCA356896101PDGFRAc.2974A>G (p.Thr992Ala)
c.2254A>G (p.Thr752Ala)
c.3049A>G (p.Thr1017Ala)
c.3013A>G (p.Thr1005Ala)
 ClinVar dbSNP gnomAD v4
4g.54290406A>TCA356896102PDGFRAc.2974A>T (p.Thr992Ser)
c.2254A>T (p.Thr752Ser)
c.3049A>T (p.Thr1017Ser)
c.3013A>T (p.Thr1005Ser)
4g.54290407C>ACA356896105PDGFRAc.2975C>A (p.Thr992Asn)
c.2255C>A (p.Thr752Asn)
c.3050C>A (p.Thr1017Asn)
c.3014C>A (p.Thr1005Asn)
4g.54290407C=CA1458540864PDGFRAc.2975C= (p.Thr992=)
c.2255C= (p.Thr752=)
c.3050C= (p.Thr1017=)
c.3014C= (p.Thr1005=)
4g.54290407C>GCA356896104PDGFRAc.2975C>G (p.Thr992Ser)
c.2255C>G (p.Thr752Ser)
c.3050C>G (p.Thr1017Ser)
c.3014C>G (p.Thr1005Ser)
 gnomAD v4
4g.54290407C>TCA356896103PDGFRAc.2975C>T (p.Thr992Ile)
c.2255C>T (p.Thr752Ile)
c.3050C>T (p.Thr1017Ile)
c.3014C>T (p.Thr1005Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.54290408C>ACA439408820PDGFRAc.2976C>A (p.Thr992=)
c.2256C>A (p.Thr752=)
c.3051C>A (p.Thr1017=)
c.3015C>A (p.Thr1005=)
 ClinVar dbSNP
4g.54290408C>GCA439408821PDGFRAc.2976C>G (p.Thr992=)
c.2256C>G (p.Thr752=)
c.3051C>G (p.Thr1017=)
c.3015C>G (p.Thr1005=)
 ClinVar
4g.54290408C>TCA439408822PDGFRAc.2976C>T (p.Thr992=)
c.2256C>T (p.Thr752=)
c.3051C>T (p.Thr1017=)
c.3015C>T (p.Thr1005=)
4g.54290409T>ACA96830171PDGFRAc.2977T>A (p.Tyr993Asn)
c.2257T>A (p.Tyr753Asn)
c.3052T>A (p.Tyr1018Asn)
c.3016T>A (p.Tyr1006Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.54290409T>CCA356896106PDGFRAc.2977T>C (p.Tyr993His)
c.2257T>C (p.Tyr753His)
c.3052T>C (p.Tyr1018His)
c.3016T>C (p.Tyr1006His)
 ClinVar dbSNP gnomAD v4
4g.54290409T>GCA356896107PDGFRAc.2977T>G (p.Tyr993Asp)
c.2257T>G (p.Tyr753Asp)
c.3052T>G (p.Tyr1018Asp)
c.3016T>G (p.Tyr1006Asp)
4g.54290409T=CA1458540873PDGFRAc.2977T= (p.Tyr993=)
c.2257T= (p.Tyr753=)
c.3052T= (p.Tyr1018=)
c.3016T= (p.Tyr1006=)
4g.54290410A>CCA356896108PDGFRAc.2978A>C (p.Tyr993Ser)
c.2258A>C (p.Tyr753Ser)
c.3053A>C (p.Tyr1018Ser)
c.3017A>C (p.Tyr1006Ser)
4g.54290410A>GCA356896109PDGFRAc.2978A>G (p.Tyr993Cys)
c.2258A>G (p.Tyr753Cys)
c.3053A>G (p.Tyr1018Cys)
c.3017A>G (p.Tyr1006Cys)
4g.54290410A>TCA356896110PDGFRAc.2978A>T (p.Tyr993Phe)
c.2258A>T (p.Tyr753Phe)
c.3053A>T (p.Tyr1018Phe)
c.3017A>T (p.Tyr1006Phe)
 dbSNP
4g.54290410_54290411delinsACCA1458540878PDGFRAc.2978_2979delinsAC (p.Tyr993=)
c.2258_2259delinsAC (p.Tyr753=)
c.3053_3054delinsAC (p.Tyr1018=)
c.3017_3018delinsAC (p.Tyr1006=)
4g.54290411delCA916081452PDGFRAc.2979del (p.Tyr993Ter)
c.2259del (p.Tyr753Ter)
c.3054del (p.Tyr1018Ter)
c.3018del (p.Tyr1006Ter)
 ClinVar dbSNP
4g.54290411C>ACA356896111PDGFRAc.2979C>A (p.Tyr993Ter)
c.2259C>A (p.Tyr753Ter)
c.3054C>A (p.Tyr1018Ter)
c.3018C>A (p.Tyr1006Ter)
4g.54290411C>GCA356896112PDGFRAc.2979C>G (p.Tyr993Ter)
c.2259C>G (p.Tyr753Ter)
c.3054C>G (p.Tyr1018Ter)
c.3018C>G (p.Tyr1006Ter)
 ClinVar dbSNP
4g.54290411C>TCA439408823PDGFRAc.2979C>T (p.Tyr993=)
c.2259C>T (p.Tyr753=)
c.3054C>T (p.Tyr1018=)
c.3018C>T (p.Tyr1006=)
 gnomAD v4
4g.54290412A=CA1458540887PDGFRAc.2980A= (p.Lys994=)
c.2260A= (p.Lys754=)
c.3055A= (p.Lys1019=)
c.3019A= (p.Lys1007=)
4g.54290412A>CCA356896113PDGFRAc.2980A>C (p.Lys994Gln)
c.2260A>C (p.Lys754Gln)
c.3055A>C (p.Lys1019Gln)
c.3019A>C (p.Lys1007Gln)
4g.54290412A>GCA96830173PDGFRAc.2980A>G (p.Lys994Glu)
c.2260A>G (p.Lys754Glu)
c.3055A>G (p.Lys1019Glu)
c.3019A>G (p.Lys1007Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.54290412A>TCA356896114PDGFRAc.2980A>T (p.Lys994Ter)
c.2260A>T (p.Lys754Ter)
c.3055A>T (p.Lys1019Ter)
c.3019A>T (p.Lys1007Ter)
 ClinVar dbSNP
4g.54290413A>CCA356896116PDGFRAc.2981A>C (p.Lys994Thr)
c.2261A>C (p.Lys754Thr)
c.3056A>C (p.Lys1019Thr)
c.3020A>C (p.Lys1007Thr)
4g.54290413A>GCA356896117PDGFRAc.2981A>G (p.Lys994Arg)
c.2261A>G (p.Lys754Arg)
c.3056A>G (p.Lys1019Arg)
c.3020A>G (p.Lys1007Arg)
 ClinVar dbSNP
4g.54290413A>TCA356896115PDGFRAc.2981A>T (p.Lys994Ile)
c.2261A>T (p.Lys754Ile)
c.3056A>T (p.Lys1019Ile)
c.3020A>T (p.Lys1007Ile)
4g.54290414A>CCA356896118PDGFRAc.2982A>C (p.Lys994Asn)
c.2262A>C (p.Lys754Asn)
c.3057A>C (p.Lys1019Asn)
c.3021A>C (p.Lys1007Asn)
4g.54290414A>GCA439408826PDGFRAc.2982A>G (p.Lys994=)
c.2262A>G (p.Lys754=)
c.3057A>G (p.Lys1019=)
c.3021A>G (p.Lys1007=)
4g.54290414A>TCA356896119PDGFRAc.2982A>T (p.Lys994Asn)
c.2262A>T (p.Lys754Asn)
c.3057A>T (p.Lys1019Asn)
c.3021A>T (p.Lys1007Asn)
4g.54290415A>CCA356896120PDGFRAc.2983A>C (p.Asn995His)
c.2263A>C (p.Asn755His)
c.3058A>C (p.Asn1020His)
c.3022A>C (p.Asn1008His)
4g.54290415A>GCA356896121PDGFRAc.2983A>G (p.Asn995Asp)
c.2263A>G (p.Asn755Asp)
c.3058A>G (p.Asn1020Asp)
c.3022A>G (p.Asn1008Asp)
4g.54290415A>TCA356896122PDGFRAc.2983A>T (p.Asn995Tyr)
c.2263A>T (p.Asn755Tyr)
c.3058A>T (p.Asn1020Tyr)
c.3022A>T (p.Asn1008Tyr)
4g.54290416A>CCA356896123PDGFRAc.2984A>C (p.Asn995Thr)
c.2264A>C (p.Asn755Thr)
c.3059A>C (p.Asn1020Thr)
c.3023A>C (p.Asn1008Thr)
4g.54290416A>GCA356896124PDGFRAc.2984A>G (p.Asn995Ser)
c.2264A>G (p.Asn755Ser)
c.3059A>G (p.Asn1020Ser)
c.3023A>G (p.Asn1008Ser)
 ClinVar dbSNP
4g.54290416A>TCA356896125PDGFRAc.2984A>T (p.Asn995Ile)
c.2264A>T (p.Asn755Ile)
c.3059A>T (p.Asn1020Ile)
c.3023A>T (p.Asn1008Ile)
4g.54290417C>ACA356896126PDGFRAc.2985C>A (p.Asn995Lys)
c.2265C>A (p.Asn755Lys)
c.3060C>A (p.Asn1020Lys)
c.3024C>A (p.Asn1008Lys)
4g.54290417C=CA1458540893PDGFRAc.2985C= (p.Asn995=)
c.2265C= (p.Asn755=)
c.3060C= (p.Asn1020=)
c.3024C= (p.Asn1008=)
4g.54290417C>GCA356896127PDGFRAc.2985C>G (p.Asn995Lys)
c.2265C>G (p.Asn755Lys)
c.3060C>G (p.Asn1020Lys)
c.3024C>G (p.Asn1008Lys)
 dbSNP gnomAD v4
4g.54290417C>TCA2923005PDGFRAc.2985C>T (p.Asn995=)
c.2265C>T (p.Asn755=)
c.3060C>T (p.Asn1020=)
c.3024C>T (p.Asn1008=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.54290417_54290420delinsCGAGCA1458540896PDGFRAc.2985_2988delinsCGAG (p.Asn995=)
c.2265_2268delinsCGAG (p.Asn755=)
c.3060_3063delinsCGAG (p.Asn1020=)
c.3024_3027delinsCGAG (p.Asn1008=)
4g.54290418G>ACA2923007PDGFRAc.2986G>A (p.Glu996Lys)
c.2266G>A (p.Glu756Lys)
c.3061G>A (p.Glu1021Lys)
c.3025G>A (p.Glu1009Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.54290418G>CCA356896129PDGFRAc.2986G>C (p.Glu996Gln)
c.2266G>C (p.Glu756Gln)
c.3061G>C (p.Glu1021Gln)
c.3025G>C (p.Glu1009Gln)
 dbSNP
4g.54290418G=CA1458540901PDGFRAc.2986G= (p.Glu996=)
c.2266G= (p.Glu756=)
c.3061G= (p.Glu1021=)
c.3025G= (p.Glu1009=)
4g.54290418G>TCA356896128PDGFRAc.2986G>T (p.Glu996Ter)
c.2266G>T (p.Glu756Ter)
c.3061G>T (p.Glu1021Ter)
c.3025G>T (p.Glu1009Ter)
4g.54290420_54290422delCA2923006PDGFRAc.2988_2990del (p.Glu997del)
c.2268_2270del (p.Glu757del)
c.3063_3065del (p.Glu1022del)
c.3027_3029del (p.Glu1010del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290419A>CCA356896130PDGFRAc.2987A>C (p.Glu996Ala)
c.2267A>C (p.Glu756Ala)
c.3062A>C (p.Glu1021Ala)
c.3026A>C (p.Glu1009Ala)
4g.54290419A>GCA356896131PDGFRAc.2987A>G (p.Glu996Gly)
c.2267A>G (p.Glu756Gly)
c.3062A>G (p.Glu1021Gly)
c.3026A>G (p.Glu1009Gly)
4g.54290419A>TCA356896132PDGFRAc.2987A>T (p.Glu996Val)
c.2267A>T (p.Glu756Val)
c.3062A>T (p.Glu1021Val)
c.3026A>T (p.Glu1009Val)
 ClinVar
4g.54290420G>ACA439408837PDGFRAc.2988G>A (p.Glu996=)
c.2268G>A (p.Glu756=)
c.3063G>A (p.Glu1021=)
c.3027G>A (p.Glu1009=)
 dbSNP
4g.54290420G>CCA2923008PDGFRAc.2988G>C (p.Glu996Asp)
c.2268G>C (p.Glu756Asp)
c.3063G>C (p.Glu1021Asp)
c.3027G>C (p.Glu1009Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.54290420G=CA1458540906PDGFRAc.2988G= (p.Glu996=)
c.2268G= (p.Glu756=)
c.3063G= (p.Glu1021=)
c.3027G= (p.Glu1009=)
4g.54290420G>TCA356896133PDGFRAc.2988G>T (p.Glu996Asp)
c.2268G>T (p.Glu756Asp)
c.3063G>T (p.Glu1021Asp)
c.3027G>T (p.Glu1009Asp)
4g.54290420_54290421delCA2761705196PDGFRAc.2988_2989del (p.Glu997ArgfsTer12)
c.2268_2269del (p.Glu757ArgfsTer12)
c.3063_3064del (p.Glu1022ArgfsTer12)
c.3027_3028del (p.Glu1010ArgfsTer12)
4g.54290421G>ACA2923009PDGFRAc.2989G>A (p.Glu997Lys)
c.2269G>A (p.Glu757Lys)
c.3064G>A (p.Glu1022Lys)
c.3028G>A (p.Glu1010Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.54290421G>CCA356896134PDGFRAc.2989G>C (p.Glu997Gln)
c.2269G>C (p.Glu757Gln)
c.3064G>C (p.Glu1022Gln)
c.3028G>C (p.Glu1010Gln)
4g.54290421G=CA1458540912PDGFRAc.2989G= (p.Glu997=)
c.2269G= (p.Glu757=)
c.3064G= (p.Glu1022=)
c.3028G= (p.Glu1010=)
4g.54290421G>TCA356896135PDGFRAc.2989G>T (p.Glu997Ter)
c.2269G>T (p.Glu757Ter)
c.3064G>T (p.Glu1022Ter)
c.3028G>T (p.Glu1010Ter)
4g.54290422A>CCA356896136PDGFRAc.2990A>C (p.Glu997Ala)
c.2270A>C (p.Glu757Ala)
c.3065A>C (p.Glu1022Ala)
c.3029A>C (p.Glu1010Ala)
4g.54290422A>GCA356896137PDGFRAc.2990A>G (p.Glu997Gly)
c.2270A>G (p.Glu757Gly)
c.3065A>G (p.Glu1022Gly)
c.3029A>G (p.Glu1010Gly)
4g.54290422A>TCA356896138PDGFRAc.2990A>T (p.Glu997Val)
c.2270A>T (p.Glu757Val)
c.3065A>T (p.Glu1022Val)
c.3029A>T (p.Glu1010Val)
4g.54290423A=CA1458540914PDGFRAc.2991A= (p.Glu997=)
c.2271A= (p.Glu757=)
c.3066A= (p.Glu1022=)
c.3030A= (p.Glu1010=)
4g.54290423A>CCA356896139PDGFRAc.2991A>C (p.Glu997Asp)
c.2271A>C (p.Glu757Asp)
c.3066A>C (p.Glu1022Asp)
c.3030A>C (p.Glu1010Asp)
4g.54290423A>GCA439408844PDGFRAc.2991A>G (p.Glu997=)
c.2271A>G (p.Glu757=)
c.3066A>G (p.Glu1022=)
c.3030A>G (p.Glu1010=)
 dbSNP
4g.54290423A>TCA356896140PDGFRAc.2991A>T (p.Glu997Asp)
c.2271A>T (p.Glu757Asp)
c.3066A>T (p.Glu1022Asp)
c.3030A>T (p.Glu1010Asp)
4g.54290424G>ACA356896142PDGFRAc.2992G>A (p.Asp998Asn)
c.2272G>A (p.Asp758Asn)
c.3067G>A (p.Asp1023Asn)
c.3031G>A (p.Asp1011Asn)
 ClinVar dbSNP
4g.54290424G>CCA356896143PDGFRAc.2992G>C (p.Asp998His)
c.2272G>C (p.Asp758His)
c.3067G>C (p.Asp1023His)
c.3031G>C (p.Asp1011His)
 ClinVar dbSNP
4g.54290424G=CA1458540916PDGFRAc.2992G= (p.Asp998=)
c.2272G= (p.Asp758=)
c.3067G= (p.Asp1023=)
c.3031G= (p.Asp1011=)
4g.54290424G>TCA356896141PDGFRAc.2992G>T (p.Asp998Tyr)
c.2272G>T (p.Asp758Tyr)
c.3067G>T (p.Asp1023Tyr)
c.3031G>T (p.Asp1011Tyr)
4g.54290425A>CCA356896145PDGFRAc.2993A>C (p.Asp998Ala)
c.2273A>C (p.Asp758Ala)
c.3068A>C (p.Asp1023Ala)
c.3032A>C (p.Asp1011Ala)
4g.54290425A>GCA356896144PDGFRAc.2993A>G (p.Asp998Gly)
c.2273A>G (p.Asp758Gly)
c.3068A>G (p.Asp1023Gly)
c.3032A>G (p.Asp1011Gly)
4g.54290425A>TCA356896146PDGFRAc.2993A>T (p.Asp998Val)
c.2273A>T (p.Asp758Val)
c.3068A>T (p.Asp1023Val)
c.3032A>T (p.Asp1011Val)
4g.54290426C>ACA356896147PDGFRAc.2994C>A (p.Asp998Glu)
c.2274C>A (p.Asp758Glu)
c.3069C>A (p.Asp1023Glu)
c.3033C>A (p.Asp1011Glu)
4g.54290426C=CA1458540920PDGFRAc.2994C= (p.Asp998=)
c.2274C= (p.Asp758=)
c.3069C= (p.Asp1023=)
c.3033C= (p.Asp1011=)
4g.54290426C>GCA356896148PDGFRAc.2994C>G (p.Asp998Glu)
c.2274C>G (p.Asp758Glu)
c.3069C>G (p.Asp1023Glu)
c.3033C>G (p.Asp1011Glu)
4g.54290426C>TCA439408852PDGFRAc.2994C>T (p.Asp998=)
c.2274C>T (p.Asp758=)
c.3069C>T (p.Asp1023=)
c.3033C>T (p.Asp1011=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.54290427A=CA1458540924PDGFRAc.2995A= (p.Lys999=)
c.2275A= (p.Lys759=)
c.3070A= (p.Lys1024=)
c.3034A= (p.Lys1012=)
4g.54290427A>CCA356896149PDGFRAc.2995A>C (p.Lys999Gln)
c.2275A>C (p.Lys759Gln)
c.3070A>C (p.Lys1024Gln)
c.3034A>C (p.Lys1012Gln)
 dbSNP
4g.54290427A>GCA356896150PDGFRAc.2995A>G (p.Lys999Glu)
c.2275A>G (p.Lys759Glu)
c.3070A>G (p.Lys1024Glu)
c.3034A>G (p.Lys1012Glu)
 ClinVar
4g.54290427A>TCA356896151PDGFRAc.2995A>T (p.Lys999Ter)
c.2275A>T (p.Lys759Ter)
c.3070A>T (p.Lys1024Ter)
c.3034A>T (p.Lys1012Ter)
4g.54290428A>CCA356896152PDGFRAc.2996A>C (p.Lys999Thr)
c.2276A>C (p.Lys759Thr)
c.3071A>C (p.Lys1024Thr)
c.3035A>C (p.Lys1012Thr)
4g.54290428A>GCA356896153PDGFRAc.2996A>G (p.Lys999Arg)
c.2276A>G (p.Lys759Arg)
c.3071A>G (p.Lys1024Arg)
c.3035A>G (p.Lys1012Arg)
4g.54290428A>TCA356896154PDGFRAc.2996A>T (p.Lys999Met)
c.2276A>T (p.Lys759Met)
c.3071A>T (p.Lys1024Met)
c.3035A>T (p.Lys1012Met)
4g.54290429G>ACA2923010PDGFRAc.2997G>A (p.Lys999=)
c.2277G>A (p.Lys759=)
c.3072G>A (p.Lys1024=)
c.3036G>A (p.Lys1012=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.54290429G>CCA2923011PDGFRAc.2997G>C (p.Lys999Asn)
c.2277G>C (p.Lys759Asn)
c.3072G>C (p.Lys1024Asn)
c.3036G>C (p.Lys1012Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.54290429G=CA1458540929PDGFRAc.2997G= (p.Lys999=)
c.2277G= (p.Lys759=)
c.3072G= (p.Lys1024=)
c.3036G= (p.Lys1012=)
4g.54290429G>TCA356896155PDGFRAc.2997G>T (p.Lys999Asn)
c.2277G>T (p.Lys759Asn)
c.3072G>T (p.Lys1024Asn)
c.3036G>T (p.Lys1012Asn)

Number of alleles fetched