Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51747934A>CCA364420540PKHD1c.9682T>G (p.Ser3228Ala)
c.9553T>G (p.Ser3185Ala)
c.9544T>G (p.Ser3182Ala)
c.9040T>G (p.Ser3014Ala)
c.8971T>G (p.Ser2991Ala)
c.3757T>G (p.Ser1253Ala)
c.9607T>G (p.Ser3203Ala)
c.9487T>G (p.Ser3163Ala)
c.9418T>G (p.Ser3140Ala)
c.7822T>G (p.Ser2608Ala)
n.9958T>G
6g.51747934A>GCA364420541PKHD1c.9682T>C (p.Ser3228Pro)
c.9553T>C (p.Ser3185Pro)
c.9544T>C (p.Ser3182Pro)
c.9040T>C (p.Ser3014Pro)
c.8971T>C (p.Ser2991Pro)
c.3757T>C (p.Ser1253Pro)
c.9607T>C (p.Ser3203Pro)
c.9487T>C (p.Ser3163Pro)
c.9418T>C (p.Ser3140Pro)
c.7822T>C (p.Ser2608Pro)
n.9958T>C
6g.51747934A>TCA364420542PKHD1c.9682T>A (p.Ser3228Thr)
c.9553T>A (p.Ser3185Thr)
c.9544T>A (p.Ser3182Thr)
c.9040T>A (p.Ser3014Thr)
c.8971T>A (p.Ser2991Thr)
c.3757T>A (p.Ser1253Thr)
c.9607T>A (p.Ser3203Thr)
c.9487T>A (p.Ser3163Thr)
c.9418T>A (p.Ser3140Thr)
c.7822T>A (p.Ser2608Thr)
n.9958T>A
6g.51747935T>ACA450613599PKHD1c.9681A>T (p.Thr3227=)
c.9552A>T (p.Thr3184=)
c.9543A>T (p.Thr3181=)
c.9039A>T (p.Thr3013=)
c.8970A>T (p.Thr2990=)
c.3756A>T (p.Thr1252=)
c.9606A>T (p.Thr3202=)
c.9486A>T (p.Thr3162=)
c.9417A>T (p.Thr3139=)
c.7821A>T (p.Thr2607=)
n.9957A>T
6g.51747935T>CCA450613597PKHD1c.9681A>G (p.Thr3227=)
c.9552A>G (p.Thr3184=)
c.9543A>G (p.Thr3181=)
c.9039A>G (p.Thr3013=)
c.8970A>G (p.Thr2990=)
c.3756A>G (p.Thr1252=)
c.9606A>G (p.Thr3202=)
c.9486A>G (p.Thr3162=)
c.9417A>G (p.Thr3139=)
c.7821A>G (p.Thr2607=)
n.9957A>G
 dbSNP
6g.51747935T>GCA450613598PKHD1c.9681A>C (p.Thr3227=)
c.9552A>C (p.Thr3184=)
c.9543A>C (p.Thr3181=)
c.9039A>C (p.Thr3013=)
c.8970A>C (p.Thr2990=)
c.3756A>C (p.Thr1252=)
c.9606A>C (p.Thr3202=)
c.9486A>C (p.Thr3162=)
c.9417A>C (p.Thr3139=)
c.7821A>C (p.Thr2607=)
n.9957A>C
6g.51747935T=CA1628502121PKHD1c.9681A= (p.Thr3227=)
c.9552A= (p.Thr3184=)
c.9543A= (p.Thr3181=)
c.9039A= (p.Thr3013=)
c.8970A= (p.Thr2990=)
c.3756A= (p.Thr1252=)
c.9606A= (p.Thr3202=)
c.9486A= (p.Thr3162=)
c.9417A= (p.Thr3139=)
c.7821A= (p.Thr2607=)
n.9957A=
6g.51747936G>ACA364420543PKHD1c.9680C>T (p.Thr3227Ile)
c.9551C>T (p.Thr3184Ile)
c.9542C>T (p.Thr3181Ile)
c.9038C>T (p.Thr3013Ile)
c.8969C>T (p.Thr2990Ile)
c.3755C>T (p.Thr1252Ile)
c.9605C>T (p.Thr3202Ile)
c.9485C>T (p.Thr3162Ile)
c.9416C>T (p.Thr3139Ile)
c.7820C>T (p.Thr2607Ile)
n.9956C>T
6g.51747936G>CCA364420544PKHD1c.9680C>G (p.Thr3227Arg)
c.9551C>G (p.Thr3184Arg)
c.9542C>G (p.Thr3181Arg)
c.9038C>G (p.Thr3013Arg)
c.8969C>G (p.Thr2990Arg)
c.3755C>G (p.Thr1252Arg)
c.9605C>G (p.Thr3202Arg)
c.9485C>G (p.Thr3162Arg)
c.9416C>G (p.Thr3139Arg)
c.7820C>G (p.Thr2607Arg)
n.9956C>G
6g.51747936G>TCA364420545PKHD1c.9680C>A (p.Thr3227Lys)
c.9551C>A (p.Thr3184Lys)
c.9542C>A (p.Thr3181Lys)
c.9038C>A (p.Thr3013Lys)
c.8969C>A (p.Thr2990Lys)
c.3755C>A (p.Thr1252Lys)
c.9605C>A (p.Thr3202Lys)
c.9485C>A (p.Thr3162Lys)
c.9416C>A (p.Thr3139Lys)
c.7820C>A (p.Thr2607Lys)
n.9956C>A
6g.51747937T>ACA364420546PKHD1c.9679A>T (p.Thr3227Ser)
c.9550A>T (p.Thr3184Ser)
c.9541A>T (p.Thr3181Ser)
c.9037A>T (p.Thr3013Ser)
c.8968A>T (p.Thr2990Ser)
c.3754A>T (p.Thr1252Ser)
c.9604A>T (p.Thr3202Ser)
c.9484A>T (p.Thr3162Ser)
c.9415A>T (p.Thr3139Ser)
c.7819A>T (p.Thr2607Ser)
n.9955A>T
6g.51747937T>CCA364420547PKHD1c.9679A>G (p.Thr3227Ala)
c.9550A>G (p.Thr3184Ala)
c.9541A>G (p.Thr3181Ala)
c.9037A>G (p.Thr3013Ala)
c.8968A>G (p.Thr2990Ala)
c.3754A>G (p.Thr1252Ala)
c.9604A>G (p.Thr3202Ala)
c.9484A>G (p.Thr3162Ala)
c.9415A>G (p.Thr3139Ala)
c.7819A>G (p.Thr2607Ala)
n.9955A>G
6g.51747937T>GCA364420548PKHD1c.9679A>C (p.Thr3227Pro)
c.9550A>C (p.Thr3184Pro)
c.9541A>C (p.Thr3181Pro)
c.9037A>C (p.Thr3013Pro)
c.8968A>C (p.Thr2990Pro)
c.3754A>C (p.Thr1252Pro)
c.9604A>C (p.Thr3202Pro)
c.9484A>C (p.Thr3162Pro)
c.9415A>C (p.Thr3139Pro)
c.7819A>C (p.Thr2607Pro)
n.9955A>C
6g.51747938C>ACA364420550PKHD1c.9678G>T (p.Leu3226Phe)
c.9549G>T (p.Leu3183Phe)
c.9540G>T (p.Leu3180Phe)
c.9036G>T (p.Leu3012Phe)
c.8967G>T (p.Leu2989Phe)
c.3753G>T (p.Leu1251Phe)
c.9603G>T (p.Leu3201Phe)
c.9483G>T (p.Leu3161Phe)
c.9414G>T (p.Leu3138Phe)
c.7818G>T (p.Leu2606Phe)
n.9954G>T
 dbSNP gnomAD v4
6g.51747938C=CA1628502129PKHD1c.9678G= (p.Leu3226=)
c.9549G= (p.Leu3183=)
c.9540G= (p.Leu3180=)
c.9036G= (p.Leu3012=)
c.8967G= (p.Leu2989=)
c.3753G= (p.Leu1251=)
c.9603G= (p.Leu3201=)
c.9483G= (p.Leu3161=)
c.9414G= (p.Leu3138=)
c.7818G= (p.Leu2606=)
n.9954G=
6g.51747938C>GCA364420549PKHD1c.9678G>C (p.Leu3226Phe)
c.9549G>C (p.Leu3183Phe)
c.9540G>C (p.Leu3180Phe)
c.9036G>C (p.Leu3012Phe)
c.8967G>C (p.Leu2989Phe)
c.3753G>C (p.Leu1251Phe)
c.9603G>C (p.Leu3201Phe)
c.9483G>C (p.Leu3161Phe)
c.9414G>C (p.Leu3138Phe)
c.7818G>C (p.Leu2606Phe)
n.9954G>C
6g.51747938C>TCA3851352PKHD1c.9678G>A (p.Leu3226=)
c.9549G>A (p.Leu3183=)
c.9540G>A (p.Leu3180=)
c.9036G>A (p.Leu3012=)
c.8967G>A (p.Leu2989=)
c.3753G>A (p.Leu1251=)
c.9603G>A (p.Leu3201=)
c.9483G>A (p.Leu3161=)
c.9414G>A (p.Leu3138=)
c.7818G>A (p.Leu2606=)
n.9954G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747939A>CCA364420554PKHD1c.9677T>G (p.Leu3226Trp)
c.9548T>G (p.Leu3183Trp)
c.9539T>G (p.Leu3180Trp)
c.9035T>G (p.Leu3012Trp)
c.8966T>G (p.Leu2989Trp)
c.3752T>G (p.Leu1251Trp)
c.9602T>G (p.Leu3201Trp)
c.9482T>G (p.Leu3161Trp)
c.9413T>G (p.Leu3138Trp)
c.7817T>G (p.Leu2606Trp)
n.9953T>G
6g.51747939A>GCA364420551PKHD1c.9677T>C (p.Leu3226Ser)
c.9548T>C (p.Leu3183Ser)
c.9539T>C (p.Leu3180Ser)
c.9035T>C (p.Leu3012Ser)
c.8966T>C (p.Leu2989Ser)
c.3752T>C (p.Leu1251Ser)
c.9602T>C (p.Leu3201Ser)
c.9482T>C (p.Leu3161Ser)
c.9413T>C (p.Leu3138Ser)
c.7817T>C (p.Leu2606Ser)
n.9953T>C
6g.51747939A>TCA364420552PKHD1c.9677T>A (p.Leu3226Ter)
c.9548T>A (p.Leu3183Ter)
c.9539T>A (p.Leu3180Ter)
c.9035T>A (p.Leu3012Ter)
c.8966T>A (p.Leu2989Ter)
c.3752T>A (p.Leu1251Ter)
c.9602T>A (p.Leu3201Ter)
c.9482T>A (p.Leu3161Ter)
c.9413T>A (p.Leu3138Ter)
c.7817T>A (p.Leu2606Ter)
n.9953T>A
6g.51747940A=CA1628502142PKHD1c.9676T= (p.Leu3226=)
c.9547T= (p.Leu3183=)
c.9538T= (p.Leu3180=)
c.9034T= (p.Leu3012=)
c.8965T= (p.Leu2989=)
c.3751T= (p.Leu1251=)
c.9601T= (p.Leu3201=)
c.9481T= (p.Leu3161=)
c.9412T= (p.Leu3138=)
c.7816T= (p.Leu2606=)
n.9952T=
6g.51747940A>CCA364420556PKHD1c.9676T>G (p.Leu3226Val)
c.9547T>G (p.Leu3183Val)
c.9538T>G (p.Leu3180Val)
c.9034T>G (p.Leu3012Val)
c.8965T>G (p.Leu2989Val)
c.3751T>G (p.Leu1251Val)
c.9601T>G (p.Leu3201Val)
c.9481T>G (p.Leu3161Val)
c.9412T>G (p.Leu3138Val)
c.7816T>G (p.Leu2606Val)
n.9952T>G
6g.51747940A>GCA138895924PKHD1c.9676T>C (p.Leu3226=)
c.9547T>C (p.Leu3183=)
c.9538T>C (p.Leu3180=)
c.9034T>C (p.Leu3012=)
c.8965T>C (p.Leu2989=)
c.3751T>C (p.Leu1251=)
c.9601T>C (p.Leu3201=)
c.9481T>C (p.Leu3161=)
c.9412T>C (p.Leu3138=)
c.7816T>C (p.Leu2606=)
n.9952T>C
 dbSNP gnomAD v4
6g.51747940A>TCA364420557PKHD1c.9676T>A (p.Leu3226Met)
c.9547T>A (p.Leu3183Met)
c.9538T>A (p.Leu3180Met)
c.9034T>A (p.Leu3012Met)
c.8965T>A (p.Leu2989Met)
c.3751T>A (p.Leu1251Met)
c.9601T>A (p.Leu3201Met)
c.9481T>A (p.Leu3161Met)
c.9412T>A (p.Leu3138Met)
c.7816T>A (p.Leu2606Met)
n.9952T>A
6g.51747941G>ACA450613605PKHD1c.9675C>T (p.Asn3225=)
c.9546C>T (p.Asn3182=)
c.9537C>T (p.Asn3179=)
c.9033C>T (p.Asn3011=)
c.8964C>T (p.Asn2988=)
c.3750C>T (p.Asn1250=)
c.9600C>T (p.Asn3200=)
c.9480C>T (p.Asn3160=)
c.9411C>T (p.Asn3137=)
c.7815C>T (p.Asn2605=)
n.9951C>T
6g.51747941G>CCA364420558PKHD1c.9675C>G (p.Asn3225Lys)
c.9546C>G (p.Asn3182Lys)
c.9537C>G (p.Asn3179Lys)
c.9033C>G (p.Asn3011Lys)
c.8964C>G (p.Asn2988Lys)
c.3750C>G (p.Asn1250Lys)
c.9600C>G (p.Asn3200Lys)
c.9480C>G (p.Asn3160Lys)
c.9411C>G (p.Asn3137Lys)
c.7815C>G (p.Asn2605Lys)
n.9951C>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747941G=CA1628502146PKHD1c.9675C= (p.Asn3225=)
c.9546C= (p.Asn3182=)
c.9537C= (p.Asn3179=)
c.9033C= (p.Asn3011=)
c.8964C= (p.Asn2988=)
c.3750C= (p.Asn1250=)
c.9600C= (p.Asn3200=)
c.9480C= (p.Asn3160=)
c.9411C= (p.Asn3137=)
c.7815C= (p.Asn2605=)
n.9951C=
6g.51747941G>TCA364420559PKHD1c.9675C>A (p.Asn3225Lys)
c.9546C>A (p.Asn3182Lys)
c.9537C>A (p.Asn3179Lys)
c.9033C>A (p.Asn3011Lys)
c.8964C>A (p.Asn2988Lys)
c.3750C>A (p.Asn1250Lys)
c.9600C>A (p.Asn3200Lys)
c.9480C>A (p.Asn3160Lys)
c.9411C>A (p.Asn3137Lys)
c.7815C>A (p.Asn2605Lys)
n.9951C>A
6g.51747942T>ACA364420560PKHD1c.9674A>T (p.Asn3225Ile)
c.9545A>T (p.Asn3182Ile)
c.9536A>T (p.Asn3179Ile)
c.9032A>T (p.Asn3011Ile)
c.8963A>T (p.Asn2988Ile)
c.3749A>T (p.Asn1250Ile)
c.9599A>T (p.Asn3200Ile)
c.9479A>T (p.Asn3160Ile)
c.9410A>T (p.Asn3137Ile)
c.7814A>T (p.Asn2605Ile)
n.9950A>T
6g.51747942T>CCA364420561PKHD1c.9674A>G (p.Asn3225Ser)
c.9545A>G (p.Asn3182Ser)
c.9536A>G (p.Asn3179Ser)
c.9032A>G (p.Asn3011Ser)
c.8963A>G (p.Asn2988Ser)
c.3749A>G (p.Asn1250Ser)
c.9599A>G (p.Asn3200Ser)
c.9479A>G (p.Asn3160Ser)
c.9410A>G (p.Asn3137Ser)
c.7814A>G (p.Asn2605Ser)
n.9950A>G
6g.51747942T>GCA364420562PKHD1c.9674A>C (p.Asn3225Thr)
c.9545A>C (p.Asn3182Thr)
c.9536A>C (p.Asn3179Thr)
c.9032A>C (p.Asn3011Thr)
c.8963A>C (p.Asn2988Thr)
c.3749A>C (p.Asn1250Thr)
c.9599A>C (p.Asn3200Thr)
c.9479A>C (p.Asn3160Thr)
c.9410A>C (p.Asn3137Thr)
c.7814A>C (p.Asn2605Thr)
n.9950A>C
6g.51747943T>ACA364420563PKHD1c.9673A>T (p.Asn3225Tyr)
c.9544A>T (p.Asn3182Tyr)
c.9535A>T (p.Asn3179Tyr)
c.9031A>T (p.Asn3011Tyr)
c.8962A>T (p.Asn2988Tyr)
c.3748A>T (p.Asn1250Tyr)
c.9598A>T (p.Asn3200Tyr)
c.9478A>T (p.Asn3160Tyr)
c.9409A>T (p.Asn3137Tyr)
c.7813A>T (p.Asn2605Tyr)
n.9949A>T
6g.51747943T>CCA364420564PKHD1c.9673A>G (p.Asn3225Asp)
c.9544A>G (p.Asn3182Asp)
c.9535A>G (p.Asn3179Asp)
c.9031A>G (p.Asn3011Asp)
c.8962A>G (p.Asn2988Asp)
c.3748A>G (p.Asn1250Asp)
c.9598A>G (p.Asn3200Asp)
c.9478A>G (p.Asn3160Asp)
c.9409A>G (p.Asn3137Asp)
c.7813A>G (p.Asn2605Asp)
n.9949A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747943T>GCA364420565PKHD1c.9673A>C (p.Asn3225His)
c.9544A>C (p.Asn3182His)
c.9535A>C (p.Asn3179His)
c.9031A>C (p.Asn3011His)
c.8962A>C (p.Asn2988His)
c.3748A>C (p.Asn1250His)
c.9598A>C (p.Asn3200His)
c.9478A>C (p.Asn3160His)
c.9409A>C (p.Asn3137His)
c.7813A>C (p.Asn2605His)
n.9949A>C
6g.51747943T=CA1628502150PKHD1c.9673A= (p.Asn3225=)
c.9544A= (p.Asn3182=)
c.9535A= (p.Asn3179=)
c.9031A= (p.Asn3011=)
c.8962A= (p.Asn2988=)
c.3748A= (p.Asn1250=)
c.9598A= (p.Asn3200=)
c.9478A= (p.Asn3160=)
c.9409A= (p.Asn3137=)
c.7813A= (p.Asn2605=)
n.9949A=
6g.51747944G>ACA450613607PKHD1c.9672C>T (p.Ala3224=)
c.9543C>T (p.Ala3181=)
c.9534C>T (p.Ala3178=)
c.9030C>T (p.Ala3010=)
c.8961C>T (p.Ala2987=)
c.3747C>T (p.Ala1249=)
c.9597C>T (p.Ala3199=)
c.9477C>T (p.Ala3159=)
c.9408C>T (p.Ala3136=)
c.7812C>T (p.Ala2604=)
n.9948C>T
6g.51747944G>CCA450613609PKHD1c.9672C>G (p.Ala3224=)
c.9543C>G (p.Ala3181=)
c.9534C>G (p.Ala3178=)
c.9030C>G (p.Ala3010=)
c.8961C>G (p.Ala2987=)
c.3747C>G (p.Ala1249=)
c.9597C>G (p.Ala3199=)
c.9477C>G (p.Ala3159=)
c.9408C>G (p.Ala3136=)
c.7812C>G (p.Ala2604=)
n.9948C>G
6g.51747944G>TCA450613610PKHD1c.9672C>A (p.Ala3224=)
c.9543C>A (p.Ala3181=)
c.9534C>A (p.Ala3178=)
c.9030C>A (p.Ala3010=)
c.8961C>A (p.Ala2987=)
c.3747C>A (p.Ala1249=)
c.9597C>A (p.Ala3199=)
c.9477C>A (p.Ala3159=)
c.9408C>A (p.Ala3136=)
c.7812C>A (p.Ala2604=)
n.9948C>A
 COSMIC
6g.51747945G>ACA364420567PKHD1c.9671C>T (p.Ala3224Val)
c.9542C>T (p.Ala3181Val)
c.9533C>T (p.Ala3178Val)
c.9029C>T (p.Ala3010Val)
c.8960C>T (p.Ala2987Val)
c.3746C>T (p.Ala1249Val)
c.9596C>T (p.Ala3199Val)
c.9476C>T (p.Ala3159Val)
c.9407C>T (p.Ala3136Val)
c.7811C>T (p.Ala2604Val)
n.9947C>T
6g.51747945G>CCA364420568PKHD1c.9671C>G (p.Ala3224Gly)
c.9542C>G (p.Ala3181Gly)
c.9533C>G (p.Ala3178Gly)
c.9029C>G (p.Ala3010Gly)
c.8960C>G (p.Ala2987Gly)
c.3746C>G (p.Ala1249Gly)
c.9596C>G (p.Ala3199Gly)
c.9476C>G (p.Ala3159Gly)
c.9407C>G (p.Ala3136Gly)
c.7811C>G (p.Ala2604Gly)
n.9947C>G
6g.51747945G>TCA364420566PKHD1c.9671C>A (p.Ala3224Asp)
c.9542C>A (p.Ala3181Asp)
c.9533C>A (p.Ala3178Asp)
c.9029C>A (p.Ala3010Asp)
c.8960C>A (p.Ala2987Asp)
c.3746C>A (p.Ala1249Asp)
c.9596C>A (p.Ala3199Asp)
c.9476C>A (p.Ala3159Asp)
c.9407C>A (p.Ala3136Asp)
c.7811C>A (p.Ala2604Asp)
n.9947C>A
 COSMIC COSMIC
6g.51747946C>ACA364420569PKHD1c.9670G>T (p.Ala3224Ser)
c.9541G>T (p.Ala3181Ser)
c.9532G>T (p.Ala3178Ser)
c.9028G>T (p.Ala3010Ser)
c.8959G>T (p.Ala2987Ser)
c.3745G>T (p.Ala1249Ser)
c.9595G>T (p.Ala3199Ser)
c.9475G>T (p.Ala3159Ser)
c.9406G>T (p.Ala3136Ser)
c.7810G>T (p.Ala2604Ser)
n.9946G>T
6g.51747946C>GCA364420570PKHD1c.9670G>C (p.Ala3224Pro)
c.9541G>C (p.Ala3181Pro)
c.9532G>C (p.Ala3178Pro)
c.9028G>C (p.Ala3010Pro)
c.8959G>C (p.Ala2987Pro)
c.3745G>C (p.Ala1249Pro)
c.9595G>C (p.Ala3199Pro)
c.9475G>C (p.Ala3159Pro)
c.9406G>C (p.Ala3136Pro)
c.7810G>C (p.Ala2604Pro)
n.9946G>C
6g.51747946C>TCA364420571PKHD1c.9670G>A (p.Ala3224Thr)
c.9541G>A (p.Ala3181Thr)
c.9532G>A (p.Ala3178Thr)
c.9028G>A (p.Ala3010Thr)
c.8959G>A (p.Ala2987Thr)
c.3745G>A (p.Ala1249Thr)
c.9595G>A (p.Ala3199Thr)
c.9475G>A (p.Ala3159Thr)
c.9406G>A (p.Ala3136Thr)
c.7810G>A (p.Ala2604Thr)
n.9946G>A
 COSMIC
6g.51747947T>ACA450613614PKHD1c.9669A>T (p.Ser3223=)
c.9540A>T (p.Ser3180=)
c.9531A>T (p.Ser3177=)
c.9027A>T (p.Ser3009=)
c.8958A>T (p.Ser2986=)
c.3744A>T (p.Ser1248=)
c.9594A>T (p.Ser3198=)
c.9474A>T (p.Ser3158=)
c.9405A>T (p.Ser3135=)
c.7809A>T (p.Ser2603=)
n.9945A>T
6g.51747947T>CCA450613615PKHD1c.9669A>G (p.Ser3223=)
c.9540A>G (p.Ser3180=)
c.9531A>G (p.Ser3177=)
c.9027A>G (p.Ser3009=)
c.8958A>G (p.Ser2986=)
c.3744A>G (p.Ser1248=)
c.9594A>G (p.Ser3198=)
c.9474A>G (p.Ser3158=)
c.9405A>G (p.Ser3135=)
c.7809A>G (p.Ser2603=)
n.9945A>G
6g.51747947T>GCA450613616PKHD1c.9669A>C (p.Ser3223=)
c.9540A>C (p.Ser3180=)
c.9531A>C (p.Ser3177=)
c.9027A>C (p.Ser3009=)
c.8958A>C (p.Ser2986=)
c.3744A>C (p.Ser1248=)
c.9594A>C (p.Ser3198=)
c.9474A>C (p.Ser3158=)
c.9405A>C (p.Ser3135=)
c.7809A>C (p.Ser2603=)
n.9945A>C
 ClinVar dbSNP
6g.51747948G>ACA3851353PKHD1c.9668C>T (p.Ser3223Leu)
c.9539C>T (p.Ser3180Leu)
c.9530C>T (p.Ser3177Leu)
c.9026C>T (p.Ser3009Leu)
c.8957C>T (p.Ser2986Leu)
c.3743C>T (p.Ser1248Leu)
c.9593C>T (p.Ser3198Leu)
c.9473C>T (p.Ser3158Leu)
c.9404C>T (p.Ser3135Leu)
c.7808C>T (p.Ser2603Leu)
n.9944C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51747948G>CCA364420572PKHD1c.9668C>G (p.Ser3223Ter)
c.9539C>G (p.Ser3180Ter)
c.9530C>G (p.Ser3177Ter)
c.9026C>G (p.Ser3009Ter)
c.8957C>G (p.Ser2986Ter)
c.3743C>G (p.Ser1248Ter)
c.9593C>G (p.Ser3198Ter)
c.9473C>G (p.Ser3158Ter)
c.9404C>G (p.Ser3135Ter)
c.7808C>G (p.Ser2603Ter)
n.9944C>G
6g.51747948G=CA1628502161PKHD1c.9668C= (p.Ser3223=)
c.9539C= (p.Ser3180=)
c.9530C= (p.Ser3177=)
c.9026C= (p.Ser3009=)
c.8957C= (p.Ser2986=)
c.3743C= (p.Ser1248=)
c.9593C= (p.Ser3198=)
c.9473C= (p.Ser3158=)
c.9404C= (p.Ser3135=)
c.7808C= (p.Ser2603=)
n.9944C=

Number of alleles fetched