Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748275C>ACA364421399PKHD1c.9341G>T (p.Cys3114Phe)
c.9212G>T (p.Cys3071Phe)
c.9203G>T (p.Cys3068Phe)
c.8699G>T (p.Cys2900Phe)
c.8630G>T (p.Cys2877Phe)
c.3416G>T (p.Cys1139Phe)
c.9266G>T (p.Cys3089Phe)
c.9146G>T (p.Cys3049Phe)
c.9077G>T (p.Cys3026Phe)
c.7481G>T (p.Cys2494Phe)
n.9617G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748275C=CA1628502950PKHD1c.9341G= (p.Cys3114=)
c.9212G= (p.Cys3071=)
c.9203G= (p.Cys3068=)
c.8699G= (p.Cys2900=)
c.8630G= (p.Cys2877=)
c.3416G= (p.Cys1139=)
c.9266G= (p.Cys3089=)
c.9146G= (p.Cys3049=)
c.9077G= (p.Cys3026=)
c.7481G= (p.Cys2494=)
n.9617G=
6g.51748275C>GCA364421401PKHD1c.9341G>C (p.Cys3114Ser)
c.9212G>C (p.Cys3071Ser)
c.9203G>C (p.Cys3068Ser)
c.8699G>C (p.Cys2900Ser)
c.8630G>C (p.Cys2877Ser)
c.3416G>C (p.Cys1139Ser)
c.9266G>C (p.Cys3089Ser)
c.9146G>C (p.Cys3049Ser)
c.9077G>C (p.Cys3026Ser)
c.7481G>C (p.Cys2494Ser)
n.9617G>C
6g.51748275C>TCA364421404PKHD1c.9341G>A (p.Cys3114Tyr)
c.9212G>A (p.Cys3071Tyr)
c.9203G>A (p.Cys3068Tyr)
c.8699G>A (p.Cys2900Tyr)
c.8630G>A (p.Cys2877Tyr)
c.3416G>A (p.Cys1139Tyr)
c.9266G>A (p.Cys3089Tyr)
c.9146G>A (p.Cys3049Tyr)
c.9077G>A (p.Cys3026Tyr)
c.7481G>A (p.Cys2494Tyr)
n.9617G>A
6g.51748276A>CCA364421407PKHD1c.9340T>G (p.Cys3114Gly)
c.9211T>G (p.Cys3071Gly)
c.9202T>G (p.Cys3068Gly)
c.8698T>G (p.Cys2900Gly)
c.8629T>G (p.Cys2877Gly)
c.3415T>G (p.Cys1139Gly)
c.9265T>G (p.Cys3089Gly)
c.9145T>G (p.Cys3049Gly)
c.9076T>G (p.Cys3026Gly)
c.7480T>G (p.Cys2494Gly)
n.9616T>G
6g.51748276A>GCA364421409PKHD1c.9340T>C (p.Cys3114Arg)
c.9211T>C (p.Cys3071Arg)
c.9202T>C (p.Cys3068Arg)
c.8698T>C (p.Cys2900Arg)
c.8629T>C (p.Cys2877Arg)
c.3415T>C (p.Cys1139Arg)
c.9265T>C (p.Cys3089Arg)
c.9145T>C (p.Cys3049Arg)
c.9076T>C (p.Cys3026Arg)
c.7480T>C (p.Cys2494Arg)
n.9616T>C
6g.51748276A>TCA364421411PKHD1c.9340T>A (p.Cys3114Ser)
c.9211T>A (p.Cys3071Ser)
c.9202T>A (p.Cys3068Ser)
c.8698T>A (p.Cys2900Ser)
c.8629T>A (p.Cys2877Ser)
c.3415T>A (p.Cys1139Ser)
c.9265T>A (p.Cys3089Ser)
c.9145T>A (p.Cys3049Ser)
c.9076T>A (p.Cys3026Ser)
c.7480T>A (p.Cys2494Ser)
n.9616T>A
6g.51748276_51748278delinsAAGCA1628502954PKHD1c.9338_9340delinsCTT (p.Ser3113=)
c.9209_9211delinsCTT (p.Ser3070=)
c.9200_9202delinsCTT (p.Ser3067=)
c.8696_8698delinsCTT (p.Ser2899=)
c.8627_8629delinsCTT (p.Ser2876=)
c.3413_3415delinsCTT (p.Ser1138=)
c.9263_9265delinsCTT (p.Ser3088=)
c.9143_9145delinsCTT (p.Ser3048=)
c.9074_9076delinsCTT (p.Ser3025=)
c.7478_7480delinsCTT (p.Ser2493=)
n.9614_9616delinsCTT
6g.51748277A=CA1628502957PKHD1c.9339T= (p.Ser3113=)
c.9210T= (p.Ser3070=)
c.9201T= (p.Ser3067=)
c.8697T= (p.Ser2899=)
c.8628T= (p.Ser2876=)
c.3414T= (p.Ser1138=)
c.9264T= (p.Ser3088=)
c.9144T= (p.Ser3048=)
c.9075T= (p.Ser3025=)
c.7479T= (p.Ser2493=)
n.9615T=
6g.51748277A>CCA450613837PKHD1c.9339T>G (p.Ser3113=)
c.9210T>G (p.Ser3070=)
c.9201T>G (p.Ser3067=)
c.8697T>G (p.Ser2899=)
c.8628T>G (p.Ser2876=)
c.3414T>G (p.Ser1138=)
c.9264T>G (p.Ser3088=)
c.9144T>G (p.Ser3048=)
c.9075T>G (p.Ser3025=)
c.7479T>G (p.Ser2493=)
n.9615T>G
 gnomAD v4
6g.51748277A>GCA3851406PKHD1c.9339T>C (p.Ser3113=)
c.9210T>C (p.Ser3070=)
c.9201T>C (p.Ser3067=)
c.8697T>C (p.Ser2899=)
c.8628T>C (p.Ser2876=)
c.3414T>C (p.Ser1138=)
c.9264T>C (p.Ser3088=)
c.9144T>C (p.Ser3048=)
c.9075T>C (p.Ser3025=)
c.7479T>C (p.Ser2493=)
n.9615T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748277A>TCA450613838PKHD1c.9339T>A (p.Ser3113=)
c.9210T>A (p.Ser3070=)
c.9201T>A (p.Ser3067=)
c.8697T>A (p.Ser2899=)
c.8628T>A (p.Ser2876=)
c.3414T>A (p.Ser1138=)
c.9264T>A (p.Ser3088=)
c.9144T>A (p.Ser3048=)
c.9075T>A (p.Ser3025=)
c.7479T>A (p.Ser2493=)
n.9615T>A
 ClinVar
6g.51748277_51748278delinsAGCA1628502958PKHD1c.9338_9339delinsCT (p.Ser3113=)
c.9209_9210delinsCT (p.Ser3070=)
c.9200_9201delinsCT (p.Ser3067=)
c.8696_8697delinsCT (p.Ser2899=)
c.8627_8628delinsCT (p.Ser2876=)
c.3413_3414delinsCT (p.Ser1138=)
c.9263_9264delinsCT (p.Ser3088=)
c.9143_9144delinsCT (p.Ser3048=)
c.9074_9075delinsCT (p.Ser3025=)
c.7478_7479delinsCT (p.Ser2493=)
n.9614_9615delinsCT
6g.51748279_51748280delCA138896366PKHD1c.9338_9339del (p.Ser3113LeufsTer2)
c.9209_9210del (p.Ser3070LeufsTer2)
c.9200_9201del (p.Ser3067LeufsTer2)
c.8696_8697del (p.Ser2899LeufsTer2)
c.8627_8628del (p.Ser2876LeufsTer2)
c.3413_3414del (p.Ser1138LeufsTer2)
c.9263_9264del (p.Ser3088LeufsTer2)
c.9143_9144del (p.Ser3048LeufsTer2)
c.9074_9075del (p.Ser3025LeufsTer2)
c.7478_7479del (p.Ser2493LeufsTer2)
n.9614_9615del
 dbSNP
6g.51748278delCA567636018PKHD1c.9338del (p.Ser3113PhefsTer?)
c.9209del (p.Ser3070PhefsTer?)
c.9200del (p.Ser3067PhefsTer?)
c.8696del (p.Ser2899PhefsTer?)
c.8627del (p.Ser2876PhefsTer?)
c.3413del (p.Ser1138PhefsTer?)
c.9263del (p.Ser3088PhefsTer?)
c.9143del (p.Ser3048PhefsTer?)
c.9074del (p.Ser3025PhefsTer?)
c.7478del (p.Ser2493PhefsTer?)
n.9614del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748278G>ACA364421416PKHD1c.9338C>T (p.Ser3113Phe)
c.9209C>T (p.Ser3070Phe)
c.9200C>T (p.Ser3067Phe)
c.8696C>T (p.Ser2899Phe)
c.8627C>T (p.Ser2876Phe)
c.3413C>T (p.Ser1138Phe)
c.9263C>T (p.Ser3088Phe)
c.9143C>T (p.Ser3048Phe)
c.9074C>T (p.Ser3025Phe)
c.7478C>T (p.Ser2493Phe)
n.9614C>T
 gnomAD v4
6g.51748278G>CCA364421419PKHD1c.9338C>G (p.Ser3113Cys)
c.9209C>G (p.Ser3070Cys)
c.9200C>G (p.Ser3067Cys)
c.8696C>G (p.Ser2899Cys)
c.8627C>G (p.Ser2876Cys)
c.3413C>G (p.Ser1138Cys)
c.9263C>G (p.Ser3088Cys)
c.9143C>G (p.Ser3048Cys)
c.9074C>G (p.Ser3025Cys)
c.7478C>G (p.Ser2493Cys)
n.9614C>G
6g.51748278G>TCA364421421PKHD1c.9338C>A (p.Ser3113Tyr)
c.9209C>A (p.Ser3070Tyr)
c.9200C>A (p.Ser3067Tyr)
c.8696C>A (p.Ser2899Tyr)
c.8627C>A (p.Ser2876Tyr)
c.3413C>A (p.Ser1138Tyr)
c.9263C>A (p.Ser3088Tyr)
c.9143C>A (p.Ser3048Tyr)
c.9074C>A (p.Ser3025Tyr)
c.7478C>A (p.Ser2493Tyr)
n.9614C>A
 COSMIC COSMIC
6g.51748279A>CCA364421423PKHD1c.9337T>G (p.Ser3113Ala)
c.9208T>G (p.Ser3070Ala)
c.9199T>G (p.Ser3067Ala)
c.8695T>G (p.Ser2899Ala)
c.8626T>G (p.Ser2876Ala)
c.3412T>G (p.Ser1138Ala)
c.9262T>G (p.Ser3088Ala)
c.9142T>G (p.Ser3048Ala)
c.9073T>G (p.Ser3025Ala)
c.7477T>G (p.Ser2493Ala)
n.9613T>G
6g.51748279A>GCA364421425PKHD1c.9337T>C (p.Ser3113Pro)
c.9208T>C (p.Ser3070Pro)
c.9199T>C (p.Ser3067Pro)
c.8695T>C (p.Ser2899Pro)
c.8626T>C (p.Ser2876Pro)
c.3412T>C (p.Ser1138Pro)
c.9262T>C (p.Ser3088Pro)
c.9142T>C (p.Ser3048Pro)
c.9073T>C (p.Ser3025Pro)
c.7477T>C (p.Ser2493Pro)
n.9613T>C
6g.51748279A>TCA364421427PKHD1c.9337T>A (p.Ser3113Thr)
c.9208T>A (p.Ser3070Thr)
c.9199T>A (p.Ser3067Thr)
c.8695T>A (p.Ser2899Thr)
c.8626T>A (p.Ser2876Thr)
c.3412T>A (p.Ser1138Thr)
c.9262T>A (p.Ser3088Thr)
c.9142T>A (p.Ser3048Thr)
c.9073T>A (p.Ser3025Thr)
c.7477T>A (p.Ser2493Thr)
n.9613T>A
6g.51748280G>ACA450613839PKHD1c.9336C>T (p.Ser3112=)
c.9207C>T (p.Ser3069=)
c.9198C>T (p.Ser3066=)
c.8694C>T (p.Ser2898=)
c.8625C>T (p.Ser2875=)
c.3411C>T (p.Ser1137=)
c.9261C>T (p.Ser3087=)
c.9141C>T (p.Ser3047=)
c.9072C>T (p.Ser3024=)
c.7476C>T (p.Ser2492=)
n.9612C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748280G>CCA450613840PKHD1c.9336C>G (p.Ser3112=)
c.9207C>G (p.Ser3069=)
c.9198C>G (p.Ser3066=)
c.8694C>G (p.Ser2898=)
c.8625C>G (p.Ser2875=)
c.3411C>G (p.Ser1137=)
c.9261C>G (p.Ser3087=)
c.9141C>G (p.Ser3047=)
c.9072C>G (p.Ser3024=)
c.7476C>G (p.Ser2492=)
n.9612C>G
6g.51748280G=CA1628502966PKHD1c.9336C= (p.Ser3112=)
c.9207C= (p.Ser3069=)
c.9198C= (p.Ser3066=)
c.8694C= (p.Ser2898=)
c.8625C= (p.Ser2875=)
c.3411C= (p.Ser1137=)
c.9261C= (p.Ser3087=)
c.9141C= (p.Ser3047=)
c.9072C= (p.Ser3024=)
c.7476C= (p.Ser2492=)
n.9612C=
6g.51748280G>TCA450613841PKHD1c.9336C>A (p.Ser3112=)
c.9207C>A (p.Ser3069=)
c.9198C>A (p.Ser3066=)
c.8694C>A (p.Ser2898=)
c.8625C>A (p.Ser2875=)
c.3411C>A (p.Ser1137=)
c.9261C>A (p.Ser3087=)
c.9141C>A (p.Ser3047=)
c.9072C>A (p.Ser3024=)
c.7476C>A (p.Ser2492=)
n.9612C>A
6g.51748281G>ACA364421434PKHD1c.9335C>T (p.Ser3112Phe)
c.9206C>T (p.Ser3069Phe)
c.9197C>T (p.Ser3066Phe)
c.8693C>T (p.Ser2898Phe)
c.8624C>T (p.Ser2875Phe)
c.3410C>T (p.Ser1137Phe)
c.9260C>T (p.Ser3087Phe)
c.9140C>T (p.Ser3047Phe)
c.9071C>T (p.Ser3024Phe)
c.7475C>T (p.Ser2492Phe)
n.9611C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748281G>CCA364421431PKHD1c.9335C>G (p.Ser3112Cys)
c.9206C>G (p.Ser3069Cys)
c.9197C>G (p.Ser3066Cys)
c.8693C>G (p.Ser2898Cys)
c.8624C>G (p.Ser2875Cys)
c.3410C>G (p.Ser1137Cys)
c.9260C>G (p.Ser3087Cys)
c.9140C>G (p.Ser3047Cys)
c.9071C>G (p.Ser3024Cys)
c.7475C>G (p.Ser2492Cys)
n.9611C>G
 gnomAD v4
6g.51748281G=CA1628502971PKHD1c.9335C= (p.Ser3112=)
c.9206C= (p.Ser3069=)
c.9197C= (p.Ser3066=)
c.8693C= (p.Ser2898=)
c.8624C= (p.Ser2875=)
c.3410C= (p.Ser1137=)
c.9260C= (p.Ser3087=)
c.9140C= (p.Ser3047=)
c.9071C= (p.Ser3024=)
c.7475C= (p.Ser2492=)
n.9611C=
6g.51748281G>TCA364421430PKHD1c.9335C>A (p.Ser3112Tyr)
c.9206C>A (p.Ser3069Tyr)
c.9197C>A (p.Ser3066Tyr)
c.8693C>A (p.Ser2898Tyr)
c.8624C>A (p.Ser2875Tyr)
c.3410C>A (p.Ser1137Tyr)
c.9260C>A (p.Ser3087Tyr)
c.9140C>A (p.Ser3047Tyr)
c.9071C>A (p.Ser3024Tyr)
c.7475C>A (p.Ser2492Tyr)
n.9611C>A
6g.51748282A=CA1628502974PKHD1c.9334T= (p.Ser3112=)
c.9205T= (p.Ser3069=)
c.9196T= (p.Ser3066=)
c.8692T= (p.Ser2898=)
c.8623T= (p.Ser2875=)
c.3409T= (p.Ser1137=)
c.9259T= (p.Ser3087=)
c.9139T= (p.Ser3047=)
c.9070T= (p.Ser3024=)
c.7474T= (p.Ser2492=)
n.9610T=
6g.51748282A>CCA364421437PKHD1c.9334T>G (p.Ser3112Ala)
c.9205T>G (p.Ser3069Ala)
c.9196T>G (p.Ser3066Ala)
c.8692T>G (p.Ser2898Ala)
c.8623T>G (p.Ser2875Ala)
c.3409T>G (p.Ser1137Ala)
c.9259T>G (p.Ser3087Ala)
c.9139T>G (p.Ser3047Ala)
c.9070T>G (p.Ser3024Ala)
c.7474T>G (p.Ser2492Ala)
n.9610T>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748282A>GCA364421439PKHD1c.9334T>C (p.Ser3112Pro)
c.9205T>C (p.Ser3069Pro)
c.9196T>C (p.Ser3066Pro)
c.8692T>C (p.Ser2898Pro)
c.8623T>C (p.Ser2875Pro)
c.3409T>C (p.Ser1137Pro)
c.9259T>C (p.Ser3087Pro)
c.9139T>C (p.Ser3047Pro)
c.9070T>C (p.Ser3024Pro)
c.7474T>C (p.Ser2492Pro)
n.9610T>C
6g.51748282A>TCA364421441PKHD1c.9334T>A (p.Ser3112Thr)
c.9205T>A (p.Ser3069Thr)
c.9196T>A (p.Ser3066Thr)
c.8692T>A (p.Ser2898Thr)
c.8623T>A (p.Ser2875Thr)
c.3409T>A (p.Ser1137Thr)
c.9259T>A (p.Ser3087Thr)
c.9139T>A (p.Ser3047Thr)
c.9070T>A (p.Ser3024Thr)
c.7474T>A (p.Ser2492Thr)
n.9610T>A
6g.51748283G>ACA450613842PKHD1c.9333C>T (p.Cys3111=)
c.9204C>T (p.Cys3068=)
c.9195C>T (p.Cys3065=)
c.8691C>T (p.Cys2897=)
c.8622C>T (p.Cys2874=)
c.3408C>T (p.Cys1136=)
c.9258C>T (p.Cys3086=)
c.9138C>T (p.Cys3046=)
c.9069C>T (p.Cys3023=)
c.7473C>T (p.Cys2491=)
n.9609C>T
6g.51748283G>CCA364421444PKHD1c.9333C>G (p.Cys3111Trp)
c.9204C>G (p.Cys3068Trp)
c.9195C>G (p.Cys3065Trp)
c.8691C>G (p.Cys2897Trp)
c.8622C>G (p.Cys2874Trp)
c.3408C>G (p.Cys1136Trp)
c.9258C>G (p.Cys3086Trp)
c.9138C>G (p.Cys3046Trp)
c.9069C>G (p.Cys3023Trp)
c.7473C>G (p.Cys2491Trp)
n.9609C>G
6g.51748283G>TCA364421445PKHD1c.9333C>A (p.Cys3111Ter)
c.9204C>A (p.Cys3068Ter)
c.9195C>A (p.Cys3065Ter)
c.8691C>A (p.Cys2897Ter)
c.8622C>A (p.Cys2874Ter)
c.3408C>A (p.Cys1136Ter)
c.9258C>A (p.Cys3086Ter)
c.9138C>A (p.Cys3046Ter)
c.9069C>A (p.Cys3023Ter)
c.7473C>A (p.Cys2491Ter)
n.9609C>A
6g.51748284C>ACA364421448PKHD1c.9332G>T (p.Cys3111Phe)
c.9203G>T (p.Cys3068Phe)
c.9194G>T (p.Cys3065Phe)
c.8690G>T (p.Cys2897Phe)
c.8621G>T (p.Cys2874Phe)
c.3407G>T (p.Cys1136Phe)
c.9257G>T (p.Cys3086Phe)
c.9137G>T (p.Cys3046Phe)
c.9068G>T (p.Cys3023Phe)
c.7472G>T (p.Cys2491Phe)
n.9608G>T
 gnomAD v4
6g.51748284C=CA1628502977PKHD1c.9332G= (p.Cys3111=)
c.9203G= (p.Cys3068=)
c.9194G= (p.Cys3065=)
c.8690G= (p.Cys2897=)
c.8621G= (p.Cys2874=)
c.3407G= (p.Cys1136=)
c.9257G= (p.Cys3086=)
c.9137G= (p.Cys3046=)
c.9068G= (p.Cys3023=)
c.7472G= (p.Cys2491=)
n.9608G=
6g.51748284C>GCA364421450PKHD1c.9332G>C (p.Cys3111Ser)
c.9203G>C (p.Cys3068Ser)
c.9194G>C (p.Cys3065Ser)
c.8690G>C (p.Cys2897Ser)
c.8621G>C (p.Cys2874Ser)
c.3407G>C (p.Cys1136Ser)
c.9257G>C (p.Cys3086Ser)
c.9137G>C (p.Cys3046Ser)
c.9068G>C (p.Cys3023Ser)
c.7472G>C (p.Cys2491Ser)
n.9608G>C
6g.51748284C>TCA364421452PKHD1c.9332G>A (p.Cys3111Tyr)
c.9203G>A (p.Cys3068Tyr)
c.9194G>A (p.Cys3065Tyr)
c.8690G>A (p.Cys2897Tyr)
c.8621G>A (p.Cys2874Tyr)
c.3407G>A (p.Cys1136Tyr)
c.9257G>A (p.Cys3086Tyr)
c.9137G>A (p.Cys3046Tyr)
c.9068G>A (p.Cys3023Tyr)
c.7472G>A (p.Cys2491Tyr)
n.9608G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748285A>CCA364421456PKHD1c.9331T>G (p.Cys3111Gly)
c.9202T>G (p.Cys3068Gly)
c.9193T>G (p.Cys3065Gly)
c.8689T>G (p.Cys2897Gly)
c.8620T>G (p.Cys2874Gly)
c.3406T>G (p.Cys1136Gly)
c.9256T>G (p.Cys3086Gly)
c.9136T>G (p.Cys3046Gly)
c.9067T>G (p.Cys3023Gly)
c.7471T>G (p.Cys2491Gly)
n.9607T>G
6g.51748285A>GCA364421457PKHD1c.9331T>C (p.Cys3111Arg)
c.9202T>C (p.Cys3068Arg)
c.9193T>C (p.Cys3065Arg)
c.8689T>C (p.Cys2897Arg)
c.8620T>C (p.Cys2874Arg)
c.3406T>C (p.Cys1136Arg)
c.9256T>C (p.Cys3086Arg)
c.9136T>C (p.Cys3046Arg)
c.9067T>C (p.Cys3023Arg)
c.7471T>C (p.Cys2491Arg)
n.9607T>C
6g.51748285A>TCA364421458PKHD1c.9331T>A (p.Cys3111Ser)
c.9202T>A (p.Cys3068Ser)
c.9193T>A (p.Cys3065Ser)
c.8689T>A (p.Cys2897Ser)
c.8620T>A (p.Cys2874Ser)
c.3406T>A (p.Cys1136Ser)
c.9256T>A (p.Cys3086Ser)
c.9136T>A (p.Cys3046Ser)
c.9067T>A (p.Cys3023Ser)
c.7471T>A (p.Cys2491Ser)
n.9607T>A
6g.51748286C>ACA364421460PKHD1c.9330G>T (p.Lys3110Asn)
c.9201G>T (p.Lys3067Asn)
c.9192G>T (p.Lys3064Asn)
c.8688G>T (p.Lys2896Asn)
c.8619G>T (p.Lys2873Asn)
c.3405G>T (p.Lys1135Asn)
c.9255G>T (p.Lys3085Asn)
c.9135G>T (p.Lys3045Asn)
c.9066G>T (p.Lys3022Asn)
c.7470G>T (p.Lys2490Asn)
n.9606G>T
6g.51748286C=CA1628502983PKHD1c.9330G= (p.Lys3110=)
c.9201G= (p.Lys3067=)
c.9192G= (p.Lys3064=)
c.8688G= (p.Lys2896=)
c.8619G= (p.Lys2873=)
c.3405G= (p.Lys1135=)
c.9255G= (p.Lys3085=)
c.9135G= (p.Lys3045=)
c.9066G= (p.Lys3022=)
c.7470G= (p.Lys2490=)
n.9606G=
6g.51748286C>GCA364421462PKHD1c.9330G>C (p.Lys3110Asn)
c.9201G>C (p.Lys3067Asn)
c.9192G>C (p.Lys3064Asn)
c.8688G>C (p.Lys2896Asn)
c.8619G>C (p.Lys2873Asn)
c.3405G>C (p.Lys1135Asn)
c.9255G>C (p.Lys3085Asn)
c.9135G>C (p.Lys3045Asn)
c.9066G>C (p.Lys3022Asn)
c.7470G>C (p.Lys2490Asn)
n.9606G>C
6g.51748286C>TCA450613843PKHD1c.9330G>A (p.Lys3110=)
c.9201G>A (p.Lys3067=)
c.9192G>A (p.Lys3064=)
c.8688G>A (p.Lys2896=)
c.8619G>A (p.Lys2873=)
c.3405G>A (p.Lys1135=)
c.9255G>A (p.Lys3085=)
c.9135G>A (p.Lys3045=)
c.9066G>A (p.Lys3022=)
c.7470G>A (p.Lys2490=)
n.9606G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748287T>ACA364421467PKHD1c.9329A>T (p.Lys3110Met)
c.9200A>T (p.Lys3067Met)
c.9191A>T (p.Lys3064Met)
c.8687A>T (p.Lys2896Met)
c.8618A>T (p.Lys2873Met)
c.3404A>T (p.Lys1135Met)
c.9254A>T (p.Lys3085Met)
c.9134A>T (p.Lys3045Met)
c.9065A>T (p.Lys3022Met)
c.7469A>T (p.Lys2490Met)
n.9605A>T
6g.51748287T>CCA364421471PKHD1c.9329A>G (p.Lys3110Arg)
c.9200A>G (p.Lys3067Arg)
c.9191A>G (p.Lys3064Arg)
c.8687A>G (p.Lys2896Arg)
c.8618A>G (p.Lys2873Arg)
c.3404A>G (p.Lys1135Arg)
c.9254A>G (p.Lys3085Arg)
c.9134A>G (p.Lys3045Arg)
c.9065A>G (p.Lys3022Arg)
c.7469A>G (p.Lys2490Arg)
n.9605A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748287T>GCA364421464PKHD1c.9329A>C (p.Lys3110Thr)
c.9200A>C (p.Lys3067Thr)
c.9191A>C (p.Lys3064Thr)
c.8687A>C (p.Lys2896Thr)
c.8618A>C (p.Lys2873Thr)
c.3404A>C (p.Lys1135Thr)
c.9254A>C (p.Lys3085Thr)
c.9134A>C (p.Lys3045Thr)
c.9065A>C (p.Lys3022Thr)
c.7469A>C (p.Lys2490Thr)
n.9605A>C
6g.51748287T=CA1628502985PKHD1c.9329A= (p.Lys3110=)
c.9200A= (p.Lys3067=)
c.9191A= (p.Lys3064=)
c.8687A= (p.Lys2896=)
c.8618A= (p.Lys2873=)
c.3404A= (p.Lys1135=)
c.9254A= (p.Lys3085=)
c.9134A= (p.Lys3045=)
c.9065A= (p.Lys3022=)
c.7469A= (p.Lys2490=)
n.9605A=
6g.51748288dupCA2580075447PKHD1c.9329dup (p.Cys3111ValfsTer5)
c.9200dup (p.Cys3068ValfsTer5)
c.9191dup (p.Cys3065ValfsTer5)
c.8687dup (p.Cys2897ValfsTer5)
c.8618dup (p.Cys2874ValfsTer5)
c.3404dup (p.Cys1136ValfsTer5)
c.9254dup (p.Cys3086ValfsTer5)
c.9134dup (p.Cys3046ValfsTer5)
c.9065dup (p.Cys3023ValfsTer5)
c.7469dup (p.Cys2491ValfsTer5)
n.9605dup
 ClinVar
6g.51748288T>ACA364421473PKHD1c.9328A>T (p.Lys3110Ter)
c.9199A>T (p.Lys3067Ter)
c.9190A>T (p.Lys3064Ter)
c.8686A>T (p.Lys2896Ter)
c.8617A>T (p.Lys2873Ter)
c.3403A>T (p.Lys1135Ter)
c.9253A>T (p.Lys3085Ter)
c.9133A>T (p.Lys3045Ter)
c.9064A>T (p.Lys3022Ter)
c.7468A>T (p.Lys2490Ter)
n.9604A>T
6g.51748288T>CCA364421474PKHD1c.9328A>G (p.Lys3110Glu)
c.9199A>G (p.Lys3067Glu)
c.9190A>G (p.Lys3064Glu)
c.8686A>G (p.Lys2896Glu)
c.8617A>G (p.Lys2873Glu)
c.3403A>G (p.Lys1135Glu)
c.9253A>G (p.Lys3085Glu)
c.9133A>G (p.Lys3045Glu)
c.9064A>G (p.Lys3022Glu)
c.7468A>G (p.Lys2490Glu)
n.9604A>G
6g.51748288T>GCA364421480PKHD1c.9328A>C (p.Lys3110Gln)
c.9199A>C (p.Lys3067Gln)
c.9190A>C (p.Lys3064Gln)
c.8686A>C (p.Lys2896Gln)
c.8617A>C (p.Lys2873Gln)
c.3403A>C (p.Lys1135Gln)
c.9253A>C (p.Lys3085Gln)
c.9133A>C (p.Lys3045Gln)
c.9064A>C (p.Lys3022Gln)
c.7468A>C (p.Lys2490Gln)
n.9604A>C
6g.51748289G>ACA450613844PKHD1c.9327C>T (p.His3109=)
c.9198C>T (p.His3066=)
c.9189C>T (p.His3063=)
c.8685C>T (p.His2895=)
c.8616C>T (p.His2872=)
c.3402C>T (p.His1134=)
c.9252C>T (p.His3084=)
c.9132C>T (p.His3044=)
c.9063C>T (p.His3021=)
c.7467C>T (p.His2489=)
n.9603C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748289G>CCA364421483PKHD1c.9327C>G (p.His3109Gln)
c.9198C>G (p.His3066Gln)
c.9189C>G (p.His3063Gln)
c.8685C>G (p.His2895Gln)
c.8616C>G (p.His2872Gln)
c.3402C>G (p.His1134Gln)
c.9252C>G (p.His3084Gln)
c.9132C>G (p.His3044Gln)
c.9063C>G (p.His3021Gln)
c.7467C>G (p.His2489Gln)
n.9603C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51748289G=CA1628502988PKHD1c.9327C= (p.His3109=)
c.9198C= (p.His3066=)
c.9189C= (p.His3063=)
c.8685C= (p.His2895=)
c.8616C= (p.His2872=)
c.3402C= (p.His1134=)
c.9252C= (p.His3084=)
c.9132C= (p.His3044=)
c.9063C= (p.His3021=)
c.7467C= (p.His2489=)
n.9603C=
6g.51748289G>TCA364421486PKHD1c.9327C>A (p.His3109Gln)
c.9198C>A (p.His3066Gln)
c.9189C>A (p.His3063Gln)
c.8685C>A (p.His2895Gln)
c.8616C>A (p.His2872Gln)
c.3402C>A (p.His1134Gln)
c.9252C>A (p.His3084Gln)
c.9132C>A (p.His3044Gln)
c.9063C>A (p.His3021Gln)
c.7467C>A (p.His2489Gln)
n.9603C>A
6g.51748290T>ACA364421494PKHD1c.9326A>T (p.His3109Leu)
c.9197A>T (p.His3066Leu)
c.9188A>T (p.His3063Leu)
c.8684A>T (p.His2895Leu)
c.8615A>T (p.His2872Leu)
c.3401A>T (p.His1134Leu)
c.9251A>T (p.His3084Leu)
c.9131A>T (p.His3044Leu)
c.9062A>T (p.His3021Leu)
c.7466A>T (p.His2489Leu)
n.9602A>T
6g.51748290T>CCA364421489PKHD1c.9326A>G (p.His3109Arg)
c.9197A>G (p.His3066Arg)
c.9188A>G (p.His3063Arg)
c.8684A>G (p.His2895Arg)
c.8615A>G (p.His2872Arg)
c.3401A>G (p.His1134Arg)
c.9251A>G (p.His3084Arg)
c.9131A>G (p.His3044Arg)
c.9062A>G (p.His3021Arg)
c.7466A>G (p.His2489Arg)
n.9602A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748290T>GCA364421492PKHD1c.9326A>C (p.His3109Pro)
c.9197A>C (p.His3066Pro)
c.9188A>C (p.His3063Pro)
c.8684A>C (p.His2895Pro)
c.8615A>C (p.His2872Pro)
c.3401A>C (p.His1134Pro)
c.9251A>C (p.His3084Pro)
c.9131A>C (p.His3044Pro)
c.9062A>C (p.His3021Pro)
c.7466A>C (p.His2489Pro)
n.9602A>C
6g.51748290T=CA1628502992PKHD1c.9326A= (p.His3109=)
c.9197A= (p.His3066=)
c.9188A= (p.His3063=)
c.8684A= (p.His2895=)
c.8615A= (p.His2872=)
c.3401A= (p.His1134=)
c.9251A= (p.His3084=)
c.9131A= (p.His3044=)
c.9062A= (p.His3021=)
c.7466A= (p.His2489=)
n.9602A=
6g.51748291G>ACA364421498PKHD1c.9325C>T (p.His3109Tyr)
c.9196C>T (p.His3066Tyr)
c.9187C>T (p.His3063Tyr)
c.8683C>T (p.His2895Tyr)
c.8614C>T (p.His2872Tyr)
c.3400C>T (p.His1134Tyr)
c.9250C>T (p.His3084Tyr)
c.9130C>T (p.His3044Tyr)
c.9061C>T (p.His3021Tyr)
c.7465C>T (p.His2489Tyr)
n.9601C>T
6g.51748291G>CCA364421503PKHD1c.9325C>G (p.His3109Asp)
c.9196C>G (p.His3066Asp)
c.9187C>G (p.His3063Asp)
c.8683C>G (p.His2895Asp)
c.8614C>G (p.His2872Asp)
c.3400C>G (p.His1134Asp)
c.9250C>G (p.His3084Asp)
c.9130C>G (p.His3044Asp)
c.9061C>G (p.His3021Asp)
c.7465C>G (p.His2489Asp)
n.9601C>G
6g.51748291G>TCA364421506PKHD1c.9325C>A (p.His3109Asn)
c.9196C>A (p.His3066Asn)
c.9187C>A (p.His3063Asn)
c.8683C>A (p.His2895Asn)
c.8614C>A (p.His2872Asn)
c.3400C>A (p.His1134Asn)
c.9250C>A (p.His3084Asn)
c.9130C>A (p.His3044Asn)
c.9061C>A (p.His3021Asn)
c.7465C>A (p.His2489Asn)
n.9601C>A
6g.51748292G>ACA450613847PKHD1c.9324C>T (p.Gly3108=)
c.9195C>T (p.Gly3065=)
c.9186C>T (p.Gly3062=)
c.8682C>T (p.Gly2894=)
c.8613C>T (p.Gly2871=)
c.3399C>T (p.Gly1133=)
c.9249C>T (p.Gly3083=)
c.9129C>T (p.Gly3043=)
c.9060C>T (p.Gly3020=)
c.7464C>T (p.Gly2488=)
n.9600C>T
6g.51748292G>CCA450613846PKHD1c.9324C>G (p.Gly3108=)
c.9195C>G (p.Gly3065=)
c.9186C>G (p.Gly3062=)
c.8682C>G (p.Gly2894=)
c.8613C>G (p.Gly2871=)
c.3399C>G (p.Gly1133=)
c.9249C>G (p.Gly3083=)
c.9129C>G (p.Gly3043=)
c.9060C>G (p.Gly3020=)
c.7464C>G (p.Gly2488=)
n.9600C>G
6g.51748292G>TCA450613845PKHD1c.9324C>A (p.Gly3108=)
c.9195C>A (p.Gly3065=)
c.9186C>A (p.Gly3062=)
c.8682C>A (p.Gly2894=)
c.8613C>A (p.Gly2871=)
c.3399C>A (p.Gly1133=)
c.9249C>A (p.Gly3083=)
c.9129C>A (p.Gly3043=)
c.9060C>A (p.Gly3020=)
c.7464C>A (p.Gly2488=)
n.9600C>A
 dbSNP
6g.51748293C>ACA364421510PKHD1c.9323G>T (p.Gly3108Val)
c.9194G>T (p.Gly3065Val)
c.9185G>T (p.Gly3062Val)
c.8681G>T (p.Gly2894Val)
c.8612G>T (p.Gly2871Val)
c.3398G>T (p.Gly1133Val)
c.9248G>T (p.Gly3083Val)
c.9128G>T (p.Gly3043Val)
c.9059G>T (p.Gly3020Val)
c.7463G>T (p.Gly2488Val)
n.9599G>T
 gnomAD v4
6g.51748293C=CA1628502995PKHD1c.9323G= (p.Gly3108=)
c.9194G= (p.Gly3065=)
c.9185G= (p.Gly3062=)
c.8681G= (p.Gly2894=)
c.8612G= (p.Gly2871=)
c.3398G= (p.Gly1133=)
c.9248G= (p.Gly3083=)
c.9128G= (p.Gly3043=)
c.9059G= (p.Gly3020=)
c.7463G= (p.Gly2488=)
n.9599G=
6g.51748293C>GCA364421514PKHD1c.9323G>C (p.Gly3108Ala)
c.9194G>C (p.Gly3065Ala)
c.9185G>C (p.Gly3062Ala)
c.8681G>C (p.Gly2894Ala)
c.8612G>C (p.Gly2871Ala)
c.3398G>C (p.Gly1133Ala)
c.9248G>C (p.Gly3083Ala)
c.9128G>C (p.Gly3043Ala)
c.9059G>C (p.Gly3020Ala)
c.7463G>C (p.Gly2488Ala)
n.9599G>C
 gnomAD v4
6g.51748293C>TCA3851407PKHD1c.9323G>A (p.Gly3108Asp)
c.9194G>A (p.Gly3065Asp)
c.9185G>A (p.Gly3062Asp)
c.8681G>A (p.Gly2894Asp)
c.8612G>A (p.Gly2871Asp)
c.3398G>A (p.Gly1133Asp)
c.9248G>A (p.Gly3083Asp)
c.9128G>A (p.Gly3043Asp)
c.9059G>A (p.Gly3020Asp)
c.7463G>A (p.Gly2488Asp)
n.9599G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748294C>ACA364421525PKHD1c.9322G>T (p.Gly3108Cys)
c.9193G>T (p.Gly3065Cys)
c.9184G>T (p.Gly3062Cys)
c.8680G>T (p.Gly2894Cys)
c.8611G>T (p.Gly2871Cys)
c.3397G>T (p.Gly1133Cys)
c.9247G>T (p.Gly3083Cys)
c.9127G>T (p.Gly3043Cys)
c.9058G>T (p.Gly3020Cys)
c.7462G>T (p.Gly2488Cys)
n.9598G>T
6g.51748294C>GCA364421528PKHD1c.9322G>C (p.Gly3108Arg)
c.9193G>C (p.Gly3065Arg)
c.9184G>C (p.Gly3062Arg)
c.8680G>C (p.Gly2894Arg)
c.8611G>C (p.Gly2871Arg)
c.3397G>C (p.Gly1133Arg)
c.9247G>C (p.Gly3083Arg)
c.9127G>C (p.Gly3043Arg)
c.9058G>C (p.Gly3020Arg)
c.7462G>C (p.Gly2488Arg)
n.9598G>C
6g.51748294C>TCA364421519PKHD1c.9322G>A (p.Gly3108Ser)
c.9193G>A (p.Gly3065Ser)
c.9184G>A (p.Gly3062Ser)
c.8680G>A (p.Gly2894Ser)
c.8611G>A (p.Gly2871Ser)
c.3397G>A (p.Gly1133Ser)
c.9247G>A (p.Gly3083Ser)
c.9127G>A (p.Gly3043Ser)
c.9058G>A (p.Gly3020Ser)
c.7462G>A (p.Gly2488Ser)
n.9598G>A
 gnomAD v4
6g.51748295T>ACA450613848PKHD1c.9321A>T (p.Arg3107=)
c.9192A>T (p.Arg3064=)
c.9183A>T (p.Arg3061=)
c.8679A>T (p.Arg2893=)
c.8610A>T (p.Arg2870=)
c.3396A>T (p.Arg1132=)
c.9246A>T (p.Arg3082=)
c.9126A>T (p.Arg3042=)
c.9057A>T (p.Arg3019=)
c.7461A>T (p.Arg2487=)
n.9597A>T
6g.51748295T>CCA450613849PKHD1c.9321A>G (p.Arg3107=)
c.9192A>G (p.Arg3064=)
c.9183A>G (p.Arg3061=)
c.8679A>G (p.Arg2893=)
c.8610A>G (p.Arg2870=)
c.3396A>G (p.Arg1132=)
c.9246A>G (p.Arg3082=)
c.9126A>G (p.Arg3042=)
c.9057A>G (p.Arg3019=)
c.7461A>G (p.Arg2487=)
n.9597A>G
6g.51748295T>GCA450613850PKHD1c.9321A>C (p.Arg3107=)
c.9192A>C (p.Arg3064=)
c.9183A>C (p.Arg3061=)
c.8679A>C (p.Arg2893=)
c.8610A>C (p.Arg2870=)
c.3396A>C (p.Arg1132=)
c.9246A>C (p.Arg3082=)
c.9126A>C (p.Arg3042=)
c.9057A>C (p.Arg3019=)
c.7461A>C (p.Arg2487=)
n.9597A>C
6g.51748296C>ACA364421536PKHD1c.9320G>T (p.Arg3107Leu)
c.9191G>T (p.Arg3064Leu)
c.9182G>T (p.Arg3061Leu)
c.8678G>T (p.Arg2893Leu)
c.8609G>T (p.Arg2870Leu)
c.3395G>T (p.Arg1132Leu)
c.9245G>T (p.Arg3082Leu)
c.9125G>T (p.Arg3042Leu)
c.9056G>T (p.Arg3019Leu)
c.7460G>T (p.Arg2487Leu)
n.9596G>T
 gnomAD v4
6g.51748296C=CA1628502999PKHD1c.9320G= (p.Arg3107=)
c.9191G= (p.Arg3064=)
c.9182G= (p.Arg3061=)
c.8678G= (p.Arg2893=)
c.8609G= (p.Arg2870=)
c.3395G= (p.Arg1132=)
c.9245G= (p.Arg3082=)
c.9125G= (p.Arg3042=)
c.9056G= (p.Arg3019=)
c.7460G= (p.Arg2487=)
n.9596G=
6g.51748296C>GCA364421533PKHD1c.9320G>C (p.Arg3107Pro)
c.9191G>C (p.Arg3064Pro)
c.9182G>C (p.Arg3061Pro)
c.8678G>C (p.Arg2893Pro)
c.8609G>C (p.Arg2870Pro)
c.3395G>C (p.Arg1132Pro)
c.9245G>C (p.Arg3082Pro)
c.9125G>C (p.Arg3042Pro)
c.9056G>C (p.Arg3019Pro)
c.7460G>C (p.Arg2487Pro)
n.9596G>C
6g.51748296C>TCA3851408PKHD1c.9320G>A (p.Arg3107Gln)
c.9191G>A (p.Arg3064Gln)
c.9182G>A (p.Arg3061Gln)
c.8678G>A (p.Arg2893Gln)
c.8609G>A (p.Arg2870Gln)
c.3395G>A (p.Arg1132Gln)
c.9245G>A (p.Arg3082Gln)
c.9125G>A (p.Arg3042Gln)
c.9056G>A (p.Arg3019Gln)
c.7460G>A (p.Arg2487Gln)
n.9596G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748297G>ACA274366PKHD1c.9319C>T (p.Arg3107Ter)
c.9190C>T (p.Arg3064Ter)
c.9181C>T (p.Arg3061Ter)
c.8677C>T (p.Arg2893Ter)
c.8608C>T (p.Arg2870Ter)
c.3394C>T (p.Arg1132Ter)
c.9244C>T (p.Arg3082Ter)
c.9124C>T (p.Arg3042Ter)
c.9055C>T (p.Arg3019Ter)
c.7459C>T (p.Arg2487Ter)
n.9595C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748297G>CCA364421546PKHD1c.9319C>G (p.Arg3107Gly)
c.9190C>G (p.Arg3064Gly)
c.9181C>G (p.Arg3061Gly)
c.8677C>G (p.Arg2893Gly)
c.8608C>G (p.Arg2870Gly)
c.3394C>G (p.Arg1132Gly)
c.9244C>G (p.Arg3082Gly)
c.9124C>G (p.Arg3042Gly)
c.9055C>G (p.Arg3019Gly)
c.7459C>G (p.Arg2487Gly)
n.9595C>G
6g.51748297G=CA1628503007PKHD1c.9319C= (p.Arg3107=)
c.9190C= (p.Arg3064=)
c.9181C= (p.Arg3061=)
c.8677C= (p.Arg2893=)
c.8608C= (p.Arg2870=)
c.3394C= (p.Arg1132=)
c.9244C= (p.Arg3082=)
c.9124C= (p.Arg3042=)
c.9055C= (p.Arg3019=)
c.7459C= (p.Arg2487=)
n.9595C=
6g.51748297G>TCA450613851PKHD1c.9319C>A (p.Arg3107=)
c.9190C>A (p.Arg3064=)
c.9181C>A (p.Arg3061=)
c.8677C>A (p.Arg2893=)
c.8608C>A (p.Arg2870=)
c.3394C>A (p.Arg1132=)
c.9244C>A (p.Arg3082=)
c.9124C>A (p.Arg3042=)
c.9055C>A (p.Arg3019=)
c.7459C>A (p.Arg2487=)
n.9595C>A
 ClinVar
6g.51748298G>ACA450613852PKHD1c.9318C>T (p.Ile3106=)
c.9189C>T (p.Ile3063=)
c.9180C>T (p.Ile3060=)
c.8676C>T (p.Ile2892=)
c.8607C>T (p.Ile2869=)
c.3393C>T (p.Ile1131=)
c.9243C>T (p.Ile3081=)
c.9123C>T (p.Ile3041=)
c.9054C>T (p.Ile3018=)
c.7458C>T (p.Ile2486=)
n.9594C>T
 ClinVar
6g.51748298G>CCA364421549PKHD1c.9318C>G (p.Ile3106Met)
c.9189C>G (p.Ile3063Met)
c.9180C>G (p.Ile3060Met)
c.8676C>G (p.Ile2892Met)
c.8607C>G (p.Ile2869Met)
c.3393C>G (p.Ile1131Met)
c.9243C>G (p.Ile3081Met)
c.9123C>G (p.Ile3041Met)
c.9054C>G (p.Ile3018Met)
c.7458C>G (p.Ile2486Met)
n.9594C>G
6g.51748298G>TCA450613853PKHD1c.9318C>A (p.Ile3106=)
c.9189C>A (p.Ile3063=)
c.9180C>A (p.Ile3060=)
c.8676C>A (p.Ile2892=)
c.8607C>A (p.Ile2869=)
c.3393C>A (p.Ile1131=)
c.9243C>A (p.Ile3081=)
c.9123C>A (p.Ile3041=)
c.9054C>A (p.Ile3018=)
c.7458C>A (p.Ile2486=)
n.9594C>A
6g.51748299A>CCA364421567PKHD1c.9317T>G (p.Ile3106Ser)
c.9188T>G (p.Ile3063Ser)
c.9179T>G (p.Ile3060Ser)
c.8675T>G (p.Ile2892Ser)
c.8606T>G (p.Ile2869Ser)
c.3392T>G (p.Ile1131Ser)
c.9242T>G (p.Ile3081Ser)
c.9122T>G (p.Ile3041Ser)
c.9053T>G (p.Ile3018Ser)
c.7457T>G (p.Ile2486Ser)
n.9593T>G
6g.51748299A>GCA364421556PKHD1c.9317T>C (p.Ile3106Thr)
c.9188T>C (p.Ile3063Thr)
c.9179T>C (p.Ile3060Thr)
c.8675T>C (p.Ile2892Thr)
c.8606T>C (p.Ile2869Thr)
c.3392T>C (p.Ile1131Thr)
c.9242T>C (p.Ile3081Thr)
c.9122T>C (p.Ile3041Thr)
c.9053T>C (p.Ile3018Thr)
c.7457T>C (p.Ile2486Thr)
n.9593T>C
6g.51748299A>TCA364421573PKHD1c.9317T>A (p.Ile3106Asn)
c.9188T>A (p.Ile3063Asn)
c.9179T>A (p.Ile3060Asn)
c.8675T>A (p.Ile2892Asn)
c.8606T>A (p.Ile2869Asn)
c.3392T>A (p.Ile1131Asn)
c.9242T>A (p.Ile3081Asn)
c.9122T>A (p.Ile3041Asn)
c.9053T>A (p.Ile3018Asn)
c.7457T>A (p.Ile2486Asn)
n.9593T>A
6g.51748300T>ACA3851409PKHD1c.9316A>T (p.Ile3106Phe)
c.9187A>T (p.Ile3063Phe)
c.9178A>T (p.Ile3060Phe)
c.8674A>T (p.Ile2892Phe)
c.8605A>T (p.Ile2869Phe)
c.3391A>T (p.Ile1131Phe)
c.9241A>T (p.Ile3081Phe)
c.9121A>T (p.Ile3041Phe)
c.9052A>T (p.Ile3018Phe)
c.7456A>T (p.Ile2486Phe)
n.9592A>T
 dbSNP ExAC gnomAD v2
6g.51748300T>CCA364422251PKHD1c.9316A>G (p.Ile3106Val)
c.9187A>G (p.Ile3063Val)
c.9178A>G (p.Ile3060Val)
c.8674A>G (p.Ile2892Val)
c.8605A>G (p.Ile2869Val)
c.3391A>G (p.Ile1131Val)
c.9241A>G (p.Ile3081Val)
c.9121A>G (p.Ile3041Val)
c.9052A>G (p.Ile3018Val)
c.7456A>G (p.Ile2486Val)
n.9592A>G
6g.51748300T>GCA364422252PKHD1c.9316A>C (p.Ile3106Leu)
c.9187A>C (p.Ile3063Leu)
c.9178A>C (p.Ile3060Leu)
c.8674A>C (p.Ile2892Leu)
c.8605A>C (p.Ile2869Leu)
c.3391A>C (p.Ile1131Leu)
c.9241A>C (p.Ile3081Leu)
c.9121A>C (p.Ile3041Leu)
c.9052A>C (p.Ile3018Leu)
c.7456A>C (p.Ile2486Leu)
n.9592A>C
6g.51748300T=CA1628503026PKHD1c.9316A= (p.Ile3106=)
c.9187A= (p.Ile3063=)
c.9178A= (p.Ile3060=)
c.8674A= (p.Ile2892=)
c.8605A= (p.Ile2869=)
c.3391A= (p.Ile1131=)
c.9241A= (p.Ile3081=)
c.9121A= (p.Ile3041=)
c.9052A= (p.Ile3018=)
c.7456A= (p.Ile2486=)
n.9592A=
6g.51748301G>ACA450613490PKHD1c.9315C>T (p.His3105=)
c.9186C>T (p.His3062=)
c.9177C>T (p.His3059=)
c.8673C>T (p.His2891=)
c.8604C>T (p.His2868=)
c.3390C>T (p.His1130=)
c.9240C>T (p.His3080=)
c.9120C>T (p.His3040=)
c.9051C>T (p.His3017=)
c.7455C>T (p.His2485=)
n.9591C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748301G>CCA364422253PKHD1c.9315C>G (p.His3105Gln)
c.9186C>G (p.His3062Gln)
c.9177C>G (p.His3059Gln)
c.8673C>G (p.His2891Gln)
c.8604C>G (p.His2868Gln)
c.3390C>G (p.His1130Gln)
c.9240C>G (p.His3080Gln)
c.9120C>G (p.His3040Gln)
c.9051C>G (p.His3017Gln)
c.7455C>G (p.His2485Gln)
n.9591C>G
6g.51748301G=CA1628503032PKHD1c.9315C= (p.His3105=)
c.9186C= (p.His3062=)
c.9177C= (p.His3059=)
c.8673C= (p.His2891=)
c.8604C= (p.His2868=)
c.3390C= (p.His1130=)
c.9240C= (p.His3080=)
c.9120C= (p.His3040=)
c.9051C= (p.His3017=)
c.7455C= (p.His2485=)
n.9591C=
6g.51748301G>TCA364422254PKHD1c.9315C>A (p.His3105Gln)
c.9186C>A (p.His3062Gln)
c.9177C>A (p.His3059Gln)
c.8673C>A (p.His2891Gln)
c.8604C>A (p.His2868Gln)
c.3390C>A (p.His1130Gln)
c.9240C>A (p.His3080Gln)
c.9120C>A (p.His3040Gln)
c.9051C>A (p.His3017Gln)
c.7455C>A (p.His2485Gln)
n.9591C>A
6g.51748302T>ACA364422255PKHD1c.9314A>T (p.His3105Leu)
c.9185A>T (p.His3062Leu)
c.9176A>T (p.His3059Leu)
c.8672A>T (p.His2891Leu)
c.8603A>T (p.His2868Leu)
c.3389A>T (p.His1130Leu)
c.9239A>T (p.His3080Leu)
c.9119A>T (p.His3040Leu)
c.9050A>T (p.His3017Leu)
c.7454A>T (p.His2485Leu)
n.9590A>T
6g.51748302T>CCA364422256PKHD1c.9314A>G (p.His3105Arg)
c.9185A>G (p.His3062Arg)
c.9176A>G (p.His3059Arg)
c.8672A>G (p.His2891Arg)
c.8603A>G (p.His2868Arg)
c.3389A>G (p.His1130Arg)
c.9239A>G (p.His3080Arg)
c.9119A>G (p.His3040Arg)
c.9050A>G (p.His3017Arg)
c.7454A>G (p.His2485Arg)
n.9590A>G
6g.51748302T>GCA364422257PKHD1c.9314A>C (p.His3105Pro)
c.9185A>C (p.His3062Pro)
c.9176A>C (p.His3059Pro)
c.8672A>C (p.His2891Pro)
c.8603A>C (p.His2868Pro)
c.3389A>C (p.His1130Pro)
c.9239A>C (p.His3080Pro)
c.9119A>C (p.His3040Pro)
c.9050A>C (p.His3017Pro)
c.7454A>C (p.His2485Pro)
n.9590A>C
 dbSNP
6g.51748302T=CA1628503039PKHD1c.9314A= (p.His3105=)
c.9185A= (p.His3062=)
c.9176A= (p.His3059=)
c.8672A= (p.His2891=)
c.8603A= (p.His2868=)
c.3389A= (p.His1130=)
c.9239A= (p.His3080=)
c.9119A= (p.His3040=)
c.9050A= (p.His3017=)
c.7454A= (p.His2485=)
n.9590A=
6g.51748303G>ACA364422258PKHD1c.9313C>T (p.His3105Tyr)
c.9184C>T (p.His3062Tyr)
c.9175C>T (p.His3059Tyr)
c.8671C>T (p.His2891Tyr)
c.8602C>T (p.His2868Tyr)
c.3388C>T (p.His1130Tyr)
c.9238C>T (p.His3080Tyr)
c.9118C>T (p.His3040Tyr)
c.9049C>T (p.His3017Tyr)
c.7453C>T (p.His2485Tyr)
n.9589C>T
6g.51748303G>CCA364422259PKHD1c.9313C>G (p.His3105Asp)
c.9184C>G (p.His3062Asp)
c.9175C>G (p.His3059Asp)
c.8671C>G (p.His2891Asp)
c.8602C>G (p.His2868Asp)
c.3388C>G (p.His1130Asp)
c.9238C>G (p.His3080Asp)
c.9118C>G (p.His3040Asp)
c.9049C>G (p.His3017Asp)
c.7453C>G (p.His2485Asp)
n.9589C>G
6g.51748303G>TCA364422260PKHD1c.9313C>A (p.His3105Asn)
c.9184C>A (p.His3062Asn)
c.9175C>A (p.His3059Asn)
c.8671C>A (p.His2891Asn)
c.8602C>A (p.His2868Asn)
c.3388C>A (p.His1130Asn)
c.9238C>A (p.His3080Asn)
c.9118C>A (p.His3040Asn)
c.9049C>A (p.His3017Asn)
c.7453C>A (p.His2485Asn)
n.9589C>A
6g.51748304A>CCA364422262PKHD1c.9312T>G (p.Phe3104Leu)
c.9183T>G (p.Phe3061Leu)
c.9174T>G (p.Phe3058Leu)
c.8670T>G (p.Phe2890Leu)
c.8601T>G (p.Phe2867Leu)
c.3387T>G (p.Phe1129Leu)
c.9237T>G (p.Phe3079Leu)
c.9117T>G (p.Phe3039Leu)
c.9048T>G (p.Phe3016Leu)
c.7452T>G (p.Phe2484Leu)
n.9588T>G
6g.51748304A>GCA450613493PKHD1c.9312T>C (p.Phe3104=)
c.9183T>C (p.Phe3061=)
c.9174T>C (p.Phe3058=)
c.8670T>C (p.Phe2890=)
c.8601T>C (p.Phe2867=)
c.3387T>C (p.Phe1129=)
c.9237T>C (p.Phe3079=)
c.9117T>C (p.Phe3039=)
c.9048T>C (p.Phe3016=)
c.7452T>C (p.Phe2484=)
n.9588T>C
6g.51748304A>TCA364422261PKHD1c.9312T>A (p.Phe3104Leu)
c.9183T>A (p.Phe3061Leu)
c.9174T>A (p.Phe3058Leu)
c.8670T>A (p.Phe2890Leu)
c.8601T>A (p.Phe2867Leu)
c.3387T>A (p.Phe1129Leu)
c.9237T>A (p.Phe3079Leu)
c.9117T>A (p.Phe3039Leu)
c.9048T>A (p.Phe3016Leu)
c.7452T>A (p.Phe2484Leu)
n.9588T>A
6g.51748305A>CCA364422263PKHD1c.9311T>G (p.Phe3104Cys)
c.9182T>G (p.Phe3061Cys)
c.9173T>G (p.Phe3058Cys)
c.8669T>G (p.Phe2890Cys)
c.8600T>G (p.Phe2867Cys)
c.3386T>G (p.Phe1129Cys)
c.9236T>G (p.Phe3079Cys)
c.9116T>G (p.Phe3039Cys)
c.9047T>G (p.Phe3016Cys)
c.7451T>G (p.Phe2484Cys)
n.9587T>G
6g.51748305A>GCA364422264PKHD1c.9311T>C (p.Phe3104Ser)
c.9182T>C (p.Phe3061Ser)
c.9173T>C (p.Phe3058Ser)
c.8669T>C (p.Phe2890Ser)
c.8600T>C (p.Phe2867Ser)
c.3386T>C (p.Phe1129Ser)
c.9236T>C (p.Phe3079Ser)
c.9116T>C (p.Phe3039Ser)
c.9047T>C (p.Phe3016Ser)
c.7451T>C (p.Phe2484Ser)
n.9587T>C
6g.51748305A>TCA364422265PKHD1c.9311T>A (p.Phe3104Tyr)
c.9182T>A (p.Phe3061Tyr)
c.9173T>A (p.Phe3058Tyr)
c.8669T>A (p.Phe2890Tyr)
c.8600T>A (p.Phe2867Tyr)
c.3386T>A (p.Phe1129Tyr)
c.9236T>A (p.Phe3079Tyr)
c.9116T>A (p.Phe3039Tyr)
c.9047T>A (p.Phe3016Tyr)
c.7451T>A (p.Phe2484Tyr)
n.9587T>A
6g.51748306A=CA1628503044PKHD1c.9310T= (p.Phe3104=)
c.9181T= (p.Phe3061=)
c.9172T= (p.Phe3058=)
c.8668T= (p.Phe2890=)
c.8599T= (p.Phe2867=)
c.3385T= (p.Phe1129=)
c.9235T= (p.Phe3079=)
c.9115T= (p.Phe3039=)
c.9046T= (p.Phe3016=)
c.7450T= (p.Phe2484=)
n.9586T=
6g.51748306A>CCA364422266PKHD1c.9310T>G (p.Phe3104Val)
c.9181T>G (p.Phe3061Val)
c.9172T>G (p.Phe3058Val)
c.8668T>G (p.Phe2890Val)
c.8599T>G (p.Phe2867Val)
c.3385T>G (p.Phe1129Val)
c.9235T>G (p.Phe3079Val)
c.9115T>G (p.Phe3039Val)
c.9046T>G (p.Phe3016Val)
c.7450T>G (p.Phe2484Val)
n.9586T>G
6g.51748306A>GCA3851410PKHD1c.9310T>C (p.Phe3104Leu)
c.9181T>C (p.Phe3061Leu)
c.9172T>C (p.Phe3058Leu)
c.8668T>C (p.Phe2890Leu)
c.8599T>C (p.Phe2867Leu)
c.3385T>C (p.Phe1129Leu)
c.9235T>C (p.Phe3079Leu)
c.9115T>C (p.Phe3039Leu)
c.9046T>C (p.Phe3016Leu)
c.7450T>C (p.Phe2484Leu)
n.9586T>C
 dbSNP ExAC gnomAD v4
6g.51748306A>TCA364422267PKHD1c.9310T>A (p.Phe3104Ile)
c.9181T>A (p.Phe3061Ile)
c.9172T>A (p.Phe3058Ile)
c.8668T>A (p.Phe2890Ile)
c.8599T>A (p.Phe2867Ile)
c.3385T>A (p.Phe1129Ile)
c.9235T>A (p.Phe3079Ile)
c.9115T>A (p.Phe3039Ile)
c.9046T>A (p.Phe3016Ile)
c.7450T>A (p.Phe2484Ile)
n.9586T>A
6g.51748307G>ACA450613498PKHD1c.9309C>T (p.Gly3103=)
c.9180C>T (p.Gly3060=)
c.9171C>T (p.Gly3057=)
c.8667C>T (p.Gly2889=)
c.8598C>T (p.Gly2866=)
c.3384C>T (p.Gly1128=)
c.9234C>T (p.Gly3078=)
c.9114C>T (p.Gly3038=)
c.9045C>T (p.Gly3015=)
c.7449C>T (p.Gly2483=)
n.9585C>T
 gnomAD v4
6g.51748307G>CCA450613499PKHD1c.9309C>G (p.Gly3103=)
c.9180C>G (p.Gly3060=)
c.9171C>G (p.Gly3057=)
c.8667C>G (p.Gly2889=)
c.8598C>G (p.Gly2866=)
c.3384C>G (p.Gly1128=)
c.9234C>G (p.Gly3078=)
c.9114C>G (p.Gly3038=)
c.9045C>G (p.Gly3015=)
c.7449C>G (p.Gly2483=)
n.9585C>G
6g.51748307G>TCA450613500PKHD1c.9309C>A (p.Gly3103=)
c.9180C>A (p.Gly3060=)
c.9171C>A (p.Gly3057=)
c.8667C>A (p.Gly2889=)
c.8598C>A (p.Gly2866=)
c.3384C>A (p.Gly1128=)
c.9234C>A (p.Gly3078=)
c.9114C>A (p.Gly3038=)
c.9045C>A (p.Gly3015=)
c.7449C>A (p.Gly2483=)
n.9585C>A
6g.51748308C>ACA364422270PKHD1c.9308G>T (p.Gly3103Val)
c.9179G>T (p.Gly3060Val)
c.9170G>T (p.Gly3057Val)
c.8666G>T (p.Gly2889Val)
c.8597G>T (p.Gly2866Val)
c.3383G>T (p.Gly1128Val)
c.9233G>T (p.Gly3078Val)
c.9113G>T (p.Gly3038Val)
c.9044G>T (p.Gly3015Val)
c.7448G>T (p.Gly2483Val)
n.9584G>T
6g.51748308C=CA1628503050PKHD1c.9308G= (p.Gly3103=)
c.9179G= (p.Gly3060=)
c.9170G= (p.Gly3057=)
c.8666G= (p.Gly2889=)
c.8597G= (p.Gly2866=)
c.3383G= (p.Gly1128=)
c.9233G= (p.Gly3078=)
c.9113G= (p.Gly3038=)
c.9044G= (p.Gly3015=)
c.7448G= (p.Gly2483=)
n.9584G=
6g.51748308C>GCA364422272PKHD1c.9308G>C (p.Gly3103Ala)
c.9179G>C (p.Gly3060Ala)
c.9170G>C (p.Gly3057Ala)
c.8666G>C (p.Gly2889Ala)
c.8597G>C (p.Gly2866Ala)
c.3383G>C (p.Gly1128Ala)
c.9233G>C (p.Gly3078Ala)
c.9113G>C (p.Gly3038Ala)
c.9044G>C (p.Gly3015Ala)
c.7448G>C (p.Gly2483Ala)
n.9584G>C
6g.51748308C>TCA3851411PKHD1c.9308G>A (p.Gly3103Asp)
c.9179G>A (p.Gly3060Asp)
c.9170G>A (p.Gly3057Asp)
c.8666G>A (p.Gly2889Asp)
c.8597G>A (p.Gly2866Asp)
c.3383G>A (p.Gly1128Asp)
c.9233G>A (p.Gly3078Asp)
c.9113G>A (p.Gly3038Asp)
c.9044G>A (p.Gly3015Asp)
c.7448G>A (p.Gly2483Asp)
n.9584G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748309delCA2679078635PKHD1c.9308del (p.Gly3103AlafsTer?)
c.9179del (p.Gly3060AlafsTer?)
c.9170del (p.Gly3057AlafsTer?)
c.8666del (p.Gly2889AlafsTer?)
c.8597del (p.Gly2866AlafsTer?)
c.3383del (p.Gly1128AlafsTer?)
c.9233del (p.Gly3078AlafsTer?)
c.9113del (p.Gly3038AlafsTer?)
c.9044del (p.Gly3015AlafsTer?)
c.7448del (p.Gly2483AlafsTer?)
n.9584del
 gnomAD v4
6g.51748309C>ACA364422275PKHD1c.9307G>T (p.Gly3103Cys)
c.9178G>T (p.Gly3060Cys)
c.9169G>T (p.Gly3057Cys)
c.8665G>T (p.Gly2889Cys)
c.8596G>T (p.Gly2866Cys)
c.3382G>T (p.Gly1128Cys)
c.9232G>T (p.Gly3078Cys)
c.9112G>T (p.Gly3038Cys)
c.9043G>T (p.Gly3015Cys)
c.7447G>T (p.Gly2483Cys)
n.9583G>T
6g.51748309C=CA1628503052PKHD1c.9307G= (p.Gly3103=)
c.9178G= (p.Gly3060=)
c.9169G= (p.Gly3057=)
c.8665G= (p.Gly2889=)
c.8596G= (p.Gly2866=)
c.3382G= (p.Gly1128=)
c.9232G= (p.Gly3078=)
c.9112G= (p.Gly3038=)
c.9043G= (p.Gly3015=)
c.7447G= (p.Gly2483=)
n.9583G=
6g.51748309C>GCA3851412PKHD1c.9307G>C (p.Gly3103Arg)
c.9178G>C (p.Gly3060Arg)
c.9169G>C (p.Gly3057Arg)
c.8665G>C (p.Gly2889Arg)
c.8596G>C (p.Gly2866Arg)
c.3382G>C (p.Gly1128Arg)
c.9232G>C (p.Gly3078Arg)
c.9112G>C (p.Gly3038Arg)
c.9043G>C (p.Gly3015Arg)
c.7447G>C (p.Gly2483Arg)
n.9583G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748309C>TCA364422279PKHD1c.9307G>A (p.Gly3103Ser)
c.9178G>A (p.Gly3060Ser)
c.9169G>A (p.Gly3057Ser)
c.8665G>A (p.Gly2889Ser)
c.8596G>A (p.Gly2866Ser)
c.3382G>A (p.Gly1128Ser)
c.9232G>A (p.Gly3078Ser)
c.9112G>A (p.Gly3038Ser)
c.9043G>A (p.Gly3015Ser)
c.7447G>A (p.Gly2483Ser)
n.9583G>A
6g.51748310A>CCA450613504PKHD1c.9306T>G (p.Leu3102=)
c.9177T>G (p.Leu3059=)
c.9168T>G (p.Leu3056=)
c.8664T>G (p.Leu2888=)
c.8595T>G (p.Leu2865=)
c.3381T>G (p.Leu1127=)
c.9231T>G (p.Leu3077=)
c.9111T>G (p.Leu3037=)
c.9042T>G (p.Leu3014=)
c.7446T>G (p.Leu2482=)
n.9582T>G
6g.51748310A>GCA450613505PKHD1c.9306T>C (p.Leu3102=)
c.9177T>C (p.Leu3059=)
c.9168T>C (p.Leu3056=)
c.8664T>C (p.Leu2888=)
c.8595T>C (p.Leu2865=)
c.3381T>C (p.Leu1127=)
c.9231T>C (p.Leu3077=)
c.9111T>C (p.Leu3037=)
c.9042T>C (p.Leu3014=)
c.7446T>C (p.Leu2482=)
n.9582T>C
6g.51748310A>TCA450613506PKHD1c.9306T>A (p.Leu3102=)
c.9177T>A (p.Leu3059=)
c.9168T>A (p.Leu3056=)
c.8664T>A (p.Leu2888=)
c.8595T>A (p.Leu2865=)
c.3381T>A (p.Leu1127=)
c.9231T>A (p.Leu3077=)
c.9111T>A (p.Leu3037=)
c.9042T>A (p.Leu3014=)
c.7446T>A (p.Leu2482=)
n.9582T>A
6g.51748311A=CA1628503058PKHD1c.9305T= (p.Leu3102=)
c.9176T= (p.Leu3059=)
c.9167T= (p.Leu3056=)
c.8663T= (p.Leu2888=)
c.8594T= (p.Leu2865=)
c.3380T= (p.Leu1127=)
c.9230T= (p.Leu3077=)
c.9110T= (p.Leu3037=)
c.9041T= (p.Leu3014=)
c.7445T= (p.Leu2482=)
n.9581T=
6g.51748311A>CCA364422284PKHD1c.9305T>G (p.Leu3102Arg)
c.9176T>G (p.Leu3059Arg)
c.9167T>G (p.Leu3056Arg)
c.8663T>G (p.Leu2888Arg)
c.8594T>G (p.Leu2865Arg)
c.3380T>G (p.Leu1127Arg)
c.9230T>G (p.Leu3077Arg)
c.9110T>G (p.Leu3037Arg)
c.9041T>G (p.Leu3014Arg)
c.7445T>G (p.Leu2482Arg)
n.9581T>G
6g.51748311A>GCA364422287PKHD1c.9305T>C (p.Leu3102Pro)
c.9176T>C (p.Leu3059Pro)
c.9167T>C (p.Leu3056Pro)
c.8663T>C (p.Leu2888Pro)
c.8594T>C (p.Leu2865Pro)
c.3380T>C (p.Leu1127Pro)
c.9230T>C (p.Leu3077Pro)
c.9110T>C (p.Leu3037Pro)
c.9041T>C (p.Leu3014Pro)
c.7445T>C (p.Leu2482Pro)
n.9581T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748311A>TCA364422281PKHD1c.9305T>A (p.Leu3102His)
c.9176T>A (p.Leu3059His)
c.9167T>A (p.Leu3056His)
c.8663T>A (p.Leu2888His)
c.8594T>A (p.Leu2865His)
c.3380T>A (p.Leu1127His)
c.9230T>A (p.Leu3077His)
c.9110T>A (p.Leu3037His)
c.9041T>A (p.Leu3014His)
c.7445T>A (p.Leu2482His)
n.9581T>A
6g.51748312G>ACA138896421PKHD1c.9304C>T (p.Leu3102Phe)
c.9175C>T (p.Leu3059Phe)
c.9166C>T (p.Leu3056Phe)
c.8662C>T (p.Leu2888Phe)
c.8593C>T (p.Leu2865Phe)
c.3379C>T (p.Leu1127Phe)
c.9229C>T (p.Leu3077Phe)
c.9109C>T (p.Leu3037Phe)
c.9040C>T (p.Leu3014Phe)
c.7444C>T (p.Leu2482Phe)
n.9580C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748312G>CCA364422290PKHD1c.9304C>G (p.Leu3102Val)
c.9175C>G (p.Leu3059Val)
c.9166C>G (p.Leu3056Val)
c.8662C>G (p.Leu2888Val)
c.8593C>G (p.Leu2865Val)
c.3379C>G (p.Leu1127Val)
c.9229C>G (p.Leu3077Val)
c.9109C>G (p.Leu3037Val)
c.9040C>G (p.Leu3014Val)
c.7444C>G (p.Leu2482Val)
n.9580C>G
6g.51748312G=CA1628503060PKHD1c.9304C= (p.Leu3102=)
c.9175C= (p.Leu3059=)
c.9166C= (p.Leu3056=)
c.8662C= (p.Leu2888=)
c.8593C= (p.Leu2865=)
c.3379C= (p.Leu1127=)
c.9229C= (p.Leu3077=)
c.9109C= (p.Leu3037=)
c.9040C= (p.Leu3014=)
c.7444C= (p.Leu2482=)
n.9580C=
6g.51748312G>TCA364422292PKHD1c.9304C>A (p.Leu3102Ile)
c.9175C>A (p.Leu3059Ile)
c.9166C>A (p.Leu3056Ile)
c.8662C>A (p.Leu2888Ile)
c.8593C>A (p.Leu2865Ile)
c.3379C>A (p.Leu1127Ile)
c.9229C>A (p.Leu3077Ile)
c.9109C>A (p.Leu3037Ile)
c.9040C>A (p.Leu3014Ile)
c.7444C>A (p.Leu2482Ile)
n.9580C>A
6g.51748313T>ACA364422296PKHD1c.9303A>T (p.Arg3101Ser)
c.9174A>T (p.Arg3058Ser)
c.9165A>T (p.Arg3055Ser)
c.8661A>T (p.Arg2887Ser)
c.8592A>T (p.Arg2864Ser)
c.3378A>T (p.Arg1126Ser)
c.9228A>T (p.Arg3076Ser)
c.9108A>T (p.Arg3036Ser)
c.9039A>T (p.Arg3013Ser)
c.7443A>T (p.Arg2481Ser)
n.9579A>T
6g.51748313T>CCA450613510PKHD1c.9303A>G (p.Arg3101=)
c.9174A>G (p.Arg3058=)
c.9165A>G (p.Arg3055=)
c.8661A>G (p.Arg2887=)
c.8592A>G (p.Arg2864=)
c.3378A>G (p.Arg1126=)
c.9228A>G (p.Arg3076=)
c.9108A>G (p.Arg3036=)
c.9039A>G (p.Arg3013=)
c.7443A>G (p.Arg2481=)
n.9579A>G
 ClinVar dbSNP gnomAD v4
6g.51748313T>GCA364422298PKHD1c.9303A>C (p.Arg3101Ser)
c.9174A>C (p.Arg3058Ser)
c.9165A>C (p.Arg3055Ser)
c.8661A>C (p.Arg2887Ser)
c.8592A>C (p.Arg2864Ser)
c.3378A>C (p.Arg1126Ser)
c.9228A>C (p.Arg3076Ser)
c.9108A>C (p.Arg3036Ser)
c.9039A>C (p.Arg3013Ser)
c.7443A>C (p.Arg2481Ser)
n.9579A>C
6g.51748313T=CA1628503068PKHD1c.9303A= (p.Arg3101=)
c.9174A= (p.Arg3058=)
c.9165A= (p.Arg3055=)
c.8661A= (p.Arg2887=)
c.8592A= (p.Arg2864=)
c.3378A= (p.Arg1126=)
c.9228A= (p.Arg3076=)
c.9108A= (p.Arg3036=)
c.9039A= (p.Arg3013=)
c.7443A= (p.Arg2481=)
n.9579A=
6g.51748318_51748319delCA2580617249PKHD1c.9302_9303del (p.Arg3101ThrfsTer14)
c.9173_9174del (p.Arg3058ThrfsTer14)
c.9164_9165del (p.Arg3055ThrfsTer14)
c.8660_8661del (p.Arg2887ThrfsTer14)
c.8591_8592del (p.Arg2864ThrfsTer14)
c.3377_3378del (p.Arg1126ThrfsTer14)
c.9227_9228del (p.Arg3076ThrfsTer14)
c.9107_9108del (p.Arg3036ThrfsTer14)
c.9038_9039del (p.Arg3013ThrfsTer14)
c.7442_7443del (p.Arg2481ThrfsTer14)
n.9578_9579del
 ClinVar
6g.51748314C>ACA364422301PKHD1c.9302G>T (p.Arg3101Ile)
c.9173G>T (p.Arg3058Ile)
c.9164G>T (p.Arg3055Ile)
c.8660G>T (p.Arg2887Ile)
c.8591G>T (p.Arg2864Ile)
c.3377G>T (p.Arg1126Ile)
c.9227G>T (p.Arg3076Ile)
c.9107G>T (p.Arg3036Ile)
c.9038G>T (p.Arg3013Ile)
c.7442G>T (p.Arg2481Ile)
n.9578G>T
6g.51748314C>GCA364422303PKHD1c.9302G>C (p.Arg3101Thr)
c.9173G>C (p.Arg3058Thr)
c.9164G>C (p.Arg3055Thr)
c.8660G>C (p.Arg2887Thr)
c.8591G>C (p.Arg2864Thr)
c.3377G>C (p.Arg1126Thr)
c.9227G>C (p.Arg3076Thr)
c.9107G>C (p.Arg3036Thr)
c.9038G>C (p.Arg3013Thr)
c.7442G>C (p.Arg2481Thr)
n.9578G>C
6g.51748314C>TCA364422305PKHD1c.9302G>A (p.Arg3101Lys)
c.9173G>A (p.Arg3058Lys)
c.9164G>A (p.Arg3055Lys)
c.8660G>A (p.Arg2887Lys)
c.8591G>A (p.Arg2864Lys)
c.3377G>A (p.Arg1126Lys)
c.9227G>A (p.Arg3076Lys)
c.9107G>A (p.Arg3036Lys)
c.9038G>A (p.Arg3013Lys)
c.7442G>A (p.Arg2481Lys)
n.9578G>A
6g.51748315T>ACA364422308PKHD1c.9301A>T (p.Arg3101Ter)
c.9172A>T (p.Arg3058Ter)
c.9163A>T (p.Arg3055Ter)
c.8659A>T (p.Arg2887Ter)
c.8590A>T (p.Arg2864Ter)
c.3376A>T (p.Arg1126Ter)
c.9226A>T (p.Arg3076Ter)
c.9106A>T (p.Arg3036Ter)
c.9037A>T (p.Arg3013Ter)
c.7441A>T (p.Arg2481Ter)
n.9577A>T
6g.51748315T>CCA3851413PKHD1c.9301A>G (p.Arg3101Gly)
c.9172A>G (p.Arg3058Gly)
c.9163A>G (p.Arg3055Gly)
c.8659A>G (p.Arg2887Gly)
c.8590A>G (p.Arg2864Gly)
c.3376A>G (p.Arg1126Gly)
c.9226A>G (p.Arg3076Gly)
c.9106A>G (p.Arg3036Gly)
c.9037A>G (p.Arg3013Gly)
c.7441A>G (p.Arg2481Gly)
n.9577A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51748315T>GCA450613513PKHD1c.9301A>C (p.Arg3101=)
c.9172A>C (p.Arg3058=)
c.9163A>C (p.Arg3055=)
c.8659A>C (p.Arg2887=)
c.8590A>C (p.Arg2864=)
c.3376A>C (p.Arg1126=)
c.9226A>C (p.Arg3076=)
c.9106A>C (p.Arg3036=)
c.9037A>C (p.Arg3013=)
c.7441A>C (p.Arg2481=)
n.9577A>C
6g.51748315T=CA1628503075PKHD1c.9301A= (p.Arg3101=)
c.9172A= (p.Arg3058=)
c.9163A= (p.Arg3055=)
c.8659A= (p.Arg2887=)
c.8590A= (p.Arg2864=)
c.3376A= (p.Arg1126=)
c.9226A= (p.Arg3076=)
c.9106A= (p.Arg3036=)
c.9037A= (p.Arg3013=)
c.7441A= (p.Arg2481=)
n.9577A=
6g.51748316C>ACA364422313PKHD1c.9300G>T (p.Glu3100Asp)
c.9171G>T (p.Glu3057Asp)
c.9162G>T (p.Glu3054Asp)
c.8658G>T (p.Glu2886Asp)
c.8589G>T (p.Glu2863Asp)
c.3375G>T (p.Glu1125Asp)
c.9225G>T (p.Glu3075Asp)
c.9105G>T (p.Glu3035Asp)
c.9036G>T (p.Glu3012Asp)
c.7440G>T (p.Glu2480Asp)
n.9576G>T
6g.51748316C=CA1628503079PKHD1c.9300G= (p.Glu3100=)
c.9171G= (p.Glu3057=)
c.9162G= (p.Glu3054=)
c.8658G= (p.Glu2886=)
c.8589G= (p.Glu2863=)
c.3375G= (p.Glu1125=)
c.9225G= (p.Glu3075=)
c.9105G= (p.Glu3035=)
c.9036G= (p.Glu3012=)
c.7440G= (p.Glu2480=)
n.9576G=
6g.51748316C>GCA364422315PKHD1c.9300G>C (p.Glu3100Asp)
c.9171G>C (p.Glu3057Asp)
c.9162G>C (p.Glu3054Asp)
c.8658G>C (p.Glu2886Asp)
c.8589G>C (p.Glu2863Asp)
c.3375G>C (p.Glu1125Asp)
c.9225G>C (p.Glu3075Asp)
c.9105G>C (p.Glu3035Asp)
c.9036G>C (p.Glu3012Asp)
c.7440G>C (p.Glu2480Asp)
n.9576G>C
6g.51748316C>TCA450613515PKHD1c.9300G>A (p.Glu3100=)
c.9171G>A (p.Glu3057=)
c.9162G>A (p.Glu3054=)
c.8658G>A (p.Glu2886=)
c.8589G>A (p.Glu2863=)
c.3375G>A (p.Glu1125=)
c.9225G>A (p.Glu3075=)
c.9105G>A (p.Glu3035=)
c.9036G>A (p.Glu3012=)
c.7440G>A (p.Glu2480=)
n.9576G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748317T>ACA364422321PKHD1c.9299A>T (p.Glu3100Val)
c.9170A>T (p.Glu3057Val)
c.9161A>T (p.Glu3054Val)
c.8657A>T (p.Glu2886Val)
c.8588A>T (p.Glu2863Val)
c.3374A>T (p.Glu1125Val)
c.9224A>T (p.Glu3075Val)
c.9104A>T (p.Glu3035Val)
c.9035A>T (p.Glu3012Val)
c.7439A>T (p.Glu2480Val)
n.9575A>T
6g.51748317T>CCA246496PKHD1c.9299A>G (p.Glu3100Gly)
c.9170A>G (p.Glu3057Gly)
c.9161A>G (p.Glu3054Gly)
c.8657A>G (p.Glu2886Gly)
c.8588A>G (p.Glu2863Gly)
c.3374A>G (p.Glu1125Gly)
c.9224A>G (p.Glu3075Gly)
c.9104A>G (p.Glu3035Gly)
c.9035A>G (p.Glu3012Gly)
c.7439A>G (p.Glu2480Gly)
n.9575A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748317T>GCA364422318PKHD1c.9299A>C (p.Glu3100Ala)
c.9170A>C (p.Glu3057Ala)
c.9161A>C (p.Glu3054Ala)
c.8657A>C (p.Glu2886Ala)
c.8588A>C (p.Glu2863Ala)
c.3374A>C (p.Glu1125Ala)
c.9224A>C (p.Glu3075Ala)
c.9104A>C (p.Glu3035Ala)
c.9035A>C (p.Glu3012Ala)
c.7439A>C (p.Glu2480Ala)
n.9575A>C
6g.51748317T=CA1628503085PKHD1c.9299A= (p.Glu3100=)
c.9170A= (p.Glu3057=)
c.9161A= (p.Glu3054=)
c.8657A= (p.Glu2886=)
c.8588A= (p.Glu2863=)
c.3374A= (p.Glu1125=)
c.9224A= (p.Glu3075=)
c.9104A= (p.Glu3035=)
c.9035A= (p.Glu3012=)
c.7439A= (p.Glu2480=)
n.9575A=
6g.51748318C>ACA364422334PKHD1c.9298G>T (p.Glu3100Ter)
c.9169G>T (p.Glu3057Ter)
c.9160G>T (p.Glu3054Ter)
c.8656G>T (p.Glu2886Ter)
c.8587G>T (p.Glu2863Ter)
c.3373G>T (p.Glu1125Ter)
c.9223G>T (p.Glu3075Ter)
c.9103G>T (p.Glu3035Ter)
c.9034G>T (p.Glu3012Ter)
c.7438G>T (p.Glu2480Ter)
n.9574G>T
6g.51748318C>GCA364422336PKHD1c.9298G>C (p.Glu3100Gln)
c.9169G>C (p.Glu3057Gln)
c.9160G>C (p.Glu3054Gln)
c.8656G>C (p.Glu2886Gln)
c.8587G>C (p.Glu2863Gln)
c.3373G>C (p.Glu1125Gln)
c.9223G>C (p.Glu3075Gln)
c.9103G>C (p.Glu3035Gln)
c.9034G>C (p.Glu3012Gln)
c.7438G>C (p.Glu2480Gln)
n.9574G>C
6g.51748318C>TCA364422338PKHD1c.9298G>A (p.Glu3100Lys)
c.9169G>A (p.Glu3057Lys)
c.9160G>A (p.Glu3054Lys)
c.8656G>A (p.Glu2886Lys)
c.8587G>A (p.Glu2863Lys)
c.3373G>A (p.Glu1125Lys)
c.9223G>A (p.Glu3075Lys)
c.9103G>A (p.Glu3035Lys)
c.9034G>A (p.Glu3012Lys)
c.7438G>A (p.Glu2480Lys)
n.9574G>A
6g.51748319T>ACA450613518PKHD1c.9297A>T (p.Ser3099=)
c.9168A>T (p.Ser3056=)
c.9159A>T (p.Ser3053=)
c.8655A>T (p.Ser2885=)
c.8586A>T (p.Ser2862=)
c.3372A>T (p.Ser1124=)
c.9222A>T (p.Ser3074=)
c.9102A>T (p.Ser3034=)
c.9033A>T (p.Ser3011=)
c.7437A>T (p.Ser2479=)
n.9573A>T
6g.51748319T>CCA450613519PKHD1c.9297A>G (p.Ser3099=)
c.9168A>G (p.Ser3056=)
c.9159A>G (p.Ser3053=)
c.8655A>G (p.Ser2885=)
c.8586A>G (p.Ser2862=)
c.3372A>G (p.Ser1124=)
c.9222A>G (p.Ser3074=)
c.9102A>G (p.Ser3034=)
c.9033A>G (p.Ser3011=)
c.7437A>G (p.Ser2479=)
n.9573A>G
6g.51748319T>GCA450613520PKHD1c.9297A>C (p.Ser3099=)
c.9168A>C (p.Ser3056=)
c.9159A>C (p.Ser3053=)
c.8655A>C (p.Ser2885=)
c.8586A>C (p.Ser2862=)
c.3372A>C (p.Ser1124=)
c.9222A>C (p.Ser3074=)
c.9102A>C (p.Ser3034=)
c.9033A>C (p.Ser3011=)
c.7437A>C (p.Ser2479=)
n.9573A>C
6g.51748320G>ACA364422341PKHD1c.9296C>T (p.Ser3099Leu)
c.9167C>T (p.Ser3056Leu)
c.9158C>T (p.Ser3053Leu)
c.8654C>T (p.Ser2885Leu)
c.8585C>T (p.Ser2862Leu)
c.3371C>T (p.Ser1124Leu)
c.9221C>T (p.Ser3074Leu)
c.9101C>T (p.Ser3034Leu)
c.9032C>T (p.Ser3011Leu)
c.7436C>T (p.Ser2479Leu)
n.9572C>T
 gnomAD v4
6g.51748320G>CCA364422343PKHD1c.9296C>G (p.Ser3099Ter)
c.9167C>G (p.Ser3056Ter)
c.9158C>G (p.Ser3053Ter)
c.8654C>G (p.Ser2885Ter)
c.8585C>G (p.Ser2862Ter)
c.3371C>G (p.Ser1124Ter)
c.9221C>G (p.Ser3074Ter)
c.9101C>G (p.Ser3034Ter)
c.9032C>G (p.Ser3011Ter)
c.7436C>G (p.Ser2479Ter)
n.9572C>G
6g.51748320G=CA1628503091PKHD1c.9296C= (p.Ser3099=)
c.9167C= (p.Ser3056=)
c.9158C= (p.Ser3053=)
c.8654C= (p.Ser2885=)
c.8585C= (p.Ser2862=)
c.3371C= (p.Ser1124=)
c.9221C= (p.Ser3074=)
c.9101C= (p.Ser3034=)
c.9032C= (p.Ser3011=)
c.7436C= (p.Ser2479=)
n.9572C=
6g.51748320G>TCA3851414PKHD1c.9296C>A (p.Ser3099Ter)
c.9167C>A (p.Ser3056Ter)
c.9158C>A (p.Ser3053Ter)
c.8654C>A (p.Ser2885Ter)
c.8585C>A (p.Ser2862Ter)
c.3371C>A (p.Ser1124Ter)
c.9221C>A (p.Ser3074Ter)
c.9101C>A (p.Ser3034Ter)
c.9032C>A (p.Ser3011Ter)
c.7436C>A (p.Ser2479Ter)
n.9572C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748321A>CCA364422346PKHD1c.9295T>G (p.Ser3099Ala)
c.9166T>G (p.Ser3056Ala)
c.9157T>G (p.Ser3053Ala)
c.8653T>G (p.Ser2885Ala)
c.8584T>G (p.Ser2862Ala)
c.3370T>G (p.Ser1124Ala)
c.9220T>G (p.Ser3074Ala)
c.9100T>G (p.Ser3034Ala)
c.9031T>G (p.Ser3011Ala)
c.7435T>G (p.Ser2479Ala)
n.9571T>G
6g.51748321A>GCA364422351PKHD1c.9295T>C (p.Ser3099Pro)
c.9166T>C (p.Ser3056Pro)
c.9157T>C (p.Ser3053Pro)
c.8653T>C (p.Ser2885Pro)
c.8584T>C (p.Ser2862Pro)
c.3370T>C (p.Ser1124Pro)
c.9220T>C (p.Ser3074Pro)
c.9100T>C (p.Ser3034Pro)
c.9031T>C (p.Ser3011Pro)
c.7435T>C (p.Ser2479Pro)
n.9571T>C
 gnomAD v4
6g.51748321A>TCA364422348PKHD1c.9295T>A (p.Ser3099Thr)
c.9166T>A (p.Ser3056Thr)
c.9157T>A (p.Ser3053Thr)
c.8653T>A (p.Ser2885Thr)
c.8584T>A (p.Ser2862Thr)
c.3370T>A (p.Ser1124Thr)
c.9220T>A (p.Ser3074Thr)
c.9100T>A (p.Ser3034Thr)
c.9031T>A (p.Ser3011Thr)
c.7435T>A (p.Ser2479Thr)
n.9571T>A
6g.51748322T>ACA450613525PKHD1c.9294A>T (p.Gly3098=)
c.9165A>T (p.Gly3055=)
c.9156A>T (p.Gly3052=)
c.8652A>T (p.Gly2884=)
c.8583A>T (p.Gly2861=)
c.3369A>T (p.Gly1123=)
c.9219A>T (p.Gly3073=)
c.9099A>T (p.Gly3033=)
c.9030A>T (p.Gly3010=)
c.7434A>T (p.Gly2478=)
n.9570A>T
6g.51748322T>CCA3851415PKHD1c.9294A>G (p.Gly3098=)
c.9165A>G (p.Gly3055=)
c.9156A>G (p.Gly3052=)
c.8652A>G (p.Gly2884=)
c.8583A>G (p.Gly2861=)
c.3369A>G (p.Gly1123=)
c.9219A>G (p.Gly3073=)
c.9099A>G (p.Gly3033=)
c.9030A>G (p.Gly3010=)
c.7434A>G (p.Gly2478=)
n.9570A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748322T>GCA450613527PKHD1c.9294A>C (p.Gly3098=)
c.9165A>C (p.Gly3055=)
c.9156A>C (p.Gly3052=)
c.8652A>C (p.Gly2884=)
c.8583A>C (p.Gly2861=)
c.3369A>C (p.Gly1123=)
c.9219A>C (p.Gly3073=)
c.9099A>C (p.Gly3033=)
c.9030A>C (p.Gly3010=)
c.7434A>C (p.Gly2478=)
n.9570A>C
 ClinVar
6g.51748322T=CA1628503096PKHD1c.9294A= (p.Gly3098=)
c.9165A= (p.Gly3055=)
c.9156A= (p.Gly3052=)
c.8652A= (p.Gly2884=)
c.8583A= (p.Gly2861=)
c.3369A= (p.Gly1123=)
c.9219A= (p.Gly3073=)
c.9099A= (p.Gly3033=)
c.9030A= (p.Gly3010=)
c.7434A= (p.Gly2478=)
n.9570A=
6g.51748323C>ACA364422356PKHD1c.9293G>T (p.Gly3098Val)
c.9164G>T (p.Gly3055Val)
c.9155G>T (p.Gly3052Val)
c.8651G>T (p.Gly2884Val)
c.8582G>T (p.Gly2861Val)
c.3368G>T (p.Gly1123Val)
c.9218G>T (p.Gly3073Val)
c.9098G>T (p.Gly3033Val)
c.9029G>T (p.Gly3010Val)
c.7433G>T (p.Gly2478Val)
n.9569G>T
6g.51748323C=CA1628503111PKHD1c.9293G= (p.Gly3098=)
c.9164G= (p.Gly3055=)
c.9155G= (p.Gly3052=)
c.8651G= (p.Gly2884=)
c.8582G= (p.Gly2861=)
c.3368G= (p.Gly1123=)
c.9218G= (p.Gly3073=)
c.9098G= (p.Gly3033=)
c.9029G= (p.Gly3010=)
c.7433G= (p.Gly2478=)
n.9569G=
6g.51748323C>GCA364422358PKHD1c.9293G>C (p.Gly3098Ala)
c.9164G>C (p.Gly3055Ala)
c.9155G>C (p.Gly3052Ala)
c.8651G>C (p.Gly2884Ala)
c.8582G>C (p.Gly2861Ala)
c.3368G>C (p.Gly1123Ala)
c.9218G>C (p.Gly3073Ala)
c.9098G>C (p.Gly3033Ala)
c.9029G>C (p.Gly3010Ala)
c.7433G>C (p.Gly2478Ala)
n.9569G>C
6g.51748323C>TCA364422359PKHD1c.9293G>A (p.Gly3098Glu)
c.9164G>A (p.Gly3055Glu)
c.9155G>A (p.Gly3052Glu)
c.8651G>A (p.Gly2884Glu)
c.8582G>A (p.Gly2861Glu)
c.3368G>A (p.Gly1123Glu)
c.9218G>A (p.Gly3073Glu)
c.9098G>A (p.Gly3033Glu)
c.9029G>A (p.Gly3010Glu)
c.7433G>A (p.Gly2478Glu)
n.9569G>A
 dbSNP
6g.51748324dupCA138896450PKHD1c.9293dup (p.Ser3099IlefsTer17)
c.9164dup (p.Ser3056IlefsTer17)
c.9155dup (p.Ser3053IlefsTer17)
c.8651dup (p.Ser2885IlefsTer17)
c.8582dup (p.Ser2862IlefsTer17)
c.3368dup (p.Ser1124IlefsTer17)
c.9218dup (p.Ser3074IlefsTer17)
c.9098dup (p.Ser3034IlefsTer17)
c.9029dup (p.Ser3011IlefsTer17)
c.7433dup (p.Ser2479IlefsTer17)
n.9569dup
 dbSNP
6g.51748324C>ACA364422367PKHD1c.9292G>T (p.Gly3098Ter)
c.9163G>T (p.Gly3055Ter)
c.9154G>T (p.Gly3052Ter)
c.8650G>T (p.Gly2884Ter)
c.8581G>T (p.Gly2861Ter)
c.3367G>T (p.Gly1123Ter)
c.9217G>T (p.Gly3073Ter)
c.9097G>T (p.Gly3033Ter)
c.9028G>T (p.Gly3010Ter)
c.7432G>T (p.Gly2478Ter)
n.9568G>T
6g.51748324C>GCA364422365PKHD1c.9292G>C (p.Gly3098Arg)
c.9163G>C (p.Gly3055Arg)
c.9154G>C (p.Gly3052Arg)
c.8650G>C (p.Gly2884Arg)
c.8581G>C (p.Gly2861Arg)
c.3367G>C (p.Gly1123Arg)
c.9217G>C (p.Gly3073Arg)
c.9097G>C (p.Gly3033Arg)
c.9028G>C (p.Gly3010Arg)
c.7432G>C (p.Gly2478Arg)
n.9568G>C
6g.51748324C>TCA364422363PKHD1c.9292G>A (p.Gly3098Arg)
c.9163G>A (p.Gly3055Arg)
c.9154G>A (p.Gly3052Arg)
c.8650G>A (p.Gly2884Arg)
c.8581G>A (p.Gly2861Arg)
c.3367G>A (p.Gly1123Arg)
c.9217G>A (p.Gly3073Arg)
c.9097G>A (p.Gly3033Arg)
c.9028G>A (p.Gly3010Arg)
c.7432G>A (p.Gly2478Arg)
n.9568G>A
6g.51748325T>ACA450613529PKHD1c.9291A>T (p.Ala3097=)
c.9162A>T (p.Ala3054=)
c.9153A>T (p.Ala3051=)
c.8649A>T (p.Ala2883=)
c.8580A>T (p.Ala2860=)
c.3366A>T (p.Ala1122=)
c.9216A>T (p.Ala3072=)
c.9096A>T (p.Ala3032=)
c.9027A>T (p.Ala3009=)
c.7431A>T (p.Ala2477=)
n.9567A>T
6g.51748325T>CCA450613530PKHD1c.9291A>G (p.Ala3097=)
c.9162A>G (p.Ala3054=)
c.9153A>G (p.Ala3051=)
c.8649A>G (p.Ala2883=)
c.8580A>G (p.Ala2860=)
c.3366A>G (p.Ala1122=)
c.9216A>G (p.Ala3072=)
c.9096A>G (p.Ala3032=)
c.9027A>G (p.Ala3009=)
c.7431A>G (p.Ala2477=)
n.9567A>G
 ClinVar
6g.51748325T>GCA450613532PKHD1c.9291A>C (p.Ala3097=)
c.9162A>C (p.Ala3054=)
c.9153A>C (p.Ala3051=)
c.8649A>C (p.Ala2883=)
c.8580A>C (p.Ala2860=)
c.3366A>C (p.Ala1122=)
c.9216A>C (p.Ala3072=)
c.9096A>C (p.Ala3032=)
c.9027A>C (p.Ala3009=)
c.7431A>C (p.Ala2477=)
n.9567A>C
6g.51748326G>ACA364422371PKHD1c.9290C>T (p.Ala3097Val)
c.9161C>T (p.Ala3054Val)
c.9152C>T (p.Ala3051Val)
c.8648C>T (p.Ala2883Val)
c.8579C>T (p.Ala2860Val)
c.3365C>T (p.Ala1122Val)
c.9215C>T (p.Ala3072Val)
c.9095C>T (p.Ala3032Val)
c.9026C>T (p.Ala3009Val)
c.7430C>T (p.Ala2477Val)
n.9566C>T
6g.51748326G>CCA364422373PKHD1c.9290C>G (p.Ala3097Gly)
c.9161C>G (p.Ala3054Gly)
c.9152C>G (p.Ala3051Gly)
c.8648C>G (p.Ala2883Gly)
c.8579C>G (p.Ala2860Gly)
c.3365C>G (p.Ala1122Gly)
c.9215C>G (p.Ala3072Gly)
c.9095C>G (p.Ala3032Gly)
c.9026C>G (p.Ala3009Gly)
c.7430C>G (p.Ala2477Gly)
n.9566C>G
6g.51748326G=CA1628503114PKHD1c.9290C= (p.Ala3097=)
c.9161C= (p.Ala3054=)
c.9152C= (p.Ala3051=)
c.8648C= (p.Ala2883=)
c.8579C= (p.Ala2860=)
c.3365C= (p.Ala1122=)
c.9215C= (p.Ala3072=)
c.9095C= (p.Ala3032=)
c.9026C= (p.Ala3009=)
c.7430C= (p.Ala2477=)
n.9566C=
6g.51748326G>TCA364422378PKHD1c.9290C>A (p.Ala3097Glu)
c.9161C>A (p.Ala3054Glu)
c.9152C>A (p.Ala3051Glu)
c.8648C>A (p.Ala2883Glu)
c.8579C>A (p.Ala2860Glu)
c.3365C>A (p.Ala1122Glu)
c.9215C>A (p.Ala3072Glu)
c.9095C>A (p.Ala3032Glu)
c.9026C>A (p.Ala3009Glu)
c.7430C>A (p.Ala2477Glu)
n.9566C>A
 ClinVar dbSNP
6g.51748326_51748328delCA2573052704PKHD1c.9288_9290del (p.Ala3097del)
c.9159_9161del (p.Ala3054del)
c.9150_9152del (p.Ala3051del)
c.8646_8648del (p.Ala2883del)
c.8577_8579del (p.Ala2860del)
c.3363_3365del (p.Ala1122del)
c.9213_9215del (p.Ala3072del)
c.9093_9095del (p.Ala3032del)
c.9024_9026del (p.Ala3009del)
c.7428_7430del (p.Ala2477del)
n.9564_9566del
 ClinVar dbSNP
6g.51748327C>ACA364422382PKHD1c.9289G>T (p.Ala3097Ser)
c.9160G>T (p.Ala3054Ser)
c.9151G>T (p.Ala3051Ser)
c.8647G>T (p.Ala2883Ser)
c.8578G>T (p.Ala2860Ser)
c.3364G>T (p.Ala1122Ser)
c.9214G>T (p.Ala3072Ser)
c.9094G>T (p.Ala3032Ser)
c.9025G>T (p.Ala3009Ser)
c.7429G>T (p.Ala2477Ser)
n.9565G>T
6g.51748327C>GCA364422384PKHD1c.9289G>C (p.Ala3097Pro)
c.9160G>C (p.Ala3054Pro)
c.9151G>C (p.Ala3051Pro)
c.8647G>C (p.Ala2883Pro)
c.8578G>C (p.Ala2860Pro)
c.3364G>C (p.Ala1122Pro)
c.9214G>C (p.Ala3072Pro)
c.9094G>C (p.Ala3032Pro)
c.9025G>C (p.Ala3009Pro)
c.7429G>C (p.Ala2477Pro)
n.9565G>C
6g.51748327C>TCA364422386PKHD1c.9289G>A (p.Ala3097Thr)
c.9160G>A (p.Ala3054Thr)
c.9151G>A (p.Ala3051Thr)
c.8647G>A (p.Ala2883Thr)
c.8578G>A (p.Ala2860Thr)
c.3364G>A (p.Ala1122Thr)
c.9214G>A (p.Ala3072Thr)
c.9094G>A (p.Ala3032Thr)
c.9025G>A (p.Ala3009Thr)
c.7429G>A (p.Ala2477Thr)
n.9565G>A
 ClinVar
6g.51748328C>ACA450613536PKHD1c.9288G>T (p.Val3096=)
c.9159G>T (p.Val3053=)
c.9150G>T (p.Val3050=)
c.8646G>T (p.Val2882=)
c.8577G>T (p.Val2859=)
c.3363G>T (p.Val1121=)
c.9213G>T (p.Val3071=)
c.9093G>T (p.Val3031=)
c.9024G>T (p.Val3008=)
c.7428G>T (p.Val2476=)
n.9564G>T
6g.51748328C>GCA450613537PKHD1c.9288G>C (p.Val3096=)
c.9159G>C (p.Val3053=)
c.9150G>C (p.Val3050=)
c.8646G>C (p.Val2882=)
c.8577G>C (p.Val2859=)
c.3363G>C (p.Val1121=)
c.9213G>C (p.Val3071=)
c.9093G>C (p.Val3031=)
c.9024G>C (p.Val3008=)
c.7428G>C (p.Val2476=)
n.9564G>C
6g.51748328C>TCA450613538PKHD1c.9288G>A (p.Val3096=)
c.9159G>A (p.Val3053=)
c.9150G>A (p.Val3050=)
c.8646G>A (p.Val2882=)
c.8577G>A (p.Val2859=)
c.3363G>A (p.Val1121=)
c.9213G>A (p.Val3071=)
c.9093G>A (p.Val3031=)
c.9024G>A (p.Val3008=)
c.7428G>A (p.Val2476=)
n.9564G>A
6g.51748329A=CA1628503118PKHD1c.9287T= (p.Val3096=)
c.9158T= (p.Val3053=)
c.9149T= (p.Val3050=)
c.8645T= (p.Val2882=)
c.8576T= (p.Val2859=)
c.3362T= (p.Val1121=)
c.9212T= (p.Val3071=)
c.9092T= (p.Val3031=)
c.9023T= (p.Val3008=)
c.7427T= (p.Val2476=)
n.9563T=
6g.51748329A>CCA364422394PKHD1c.9287T>G (p.Val3096Gly)
c.9158T>G (p.Val3053Gly)
c.9149T>G (p.Val3050Gly)
c.8645T>G (p.Val2882Gly)
c.8576T>G (p.Val2859Gly)
c.3362T>G (p.Val1121Gly)
c.9212T>G (p.Val3071Gly)
c.9092T>G (p.Val3031Gly)
c.9023T>G (p.Val3008Gly)
c.7427T>G (p.Val2476Gly)
n.9563T>G
6g.51748329A>GCA364422392PKHD1c.9287T>C (p.Val3096Ala)
c.9158T>C (p.Val3053Ala)
c.9149T>C (p.Val3050Ala)
c.8645T>C (p.Val2882Ala)
c.8576T>C (p.Val2859Ala)
c.3362T>C (p.Val1121Ala)
c.9212T>C (p.Val3071Ala)
c.9092T>C (p.Val3031Ala)
c.9023T>C (p.Val3008Ala)
c.7427T>C (p.Val2476Ala)
n.9563T>C
 dbSNP gnomAD v4
6g.51748329A>TCA364422390PKHD1c.9287T>A (p.Val3096Glu)
c.9158T>A (p.Val3053Glu)
c.9149T>A (p.Val3050Glu)
c.8645T>A (p.Val2882Glu)
c.8576T>A (p.Val2859Glu)
c.3362T>A (p.Val1121Glu)
c.9212T>A (p.Val3071Glu)
c.9092T>A (p.Val3031Glu)
c.9023T>A (p.Val3008Glu)
c.7427T>A (p.Val2476Glu)
n.9563T>A
6g.51748330C>ACA364422395PKHD1c.9286G>T (p.Val3096Leu)
c.9157G>T (p.Val3053Leu)
c.9148G>T (p.Val3050Leu)
c.8644G>T (p.Val2882Leu)
c.8575G>T (p.Val2859Leu)
c.3361G>T (p.Val1121Leu)
c.9211G>T (p.Val3071Leu)
c.9091G>T (p.Val3031Leu)
c.9022G>T (p.Val3008Leu)
c.7426G>T (p.Val2476Leu)
n.9562G>T
6g.51748330C>GCA364422396PKHD1c.9286G>C (p.Val3096Leu)
c.9157G>C (p.Val3053Leu)
c.9148G>C (p.Val3050Leu)
c.8644G>C (p.Val2882Leu)
c.8575G>C (p.Val2859Leu)
c.3361G>C (p.Val1121Leu)
c.9211G>C (p.Val3071Leu)
c.9091G>C (p.Val3031Leu)
c.9022G>C (p.Val3008Leu)
c.7426G>C (p.Val2476Leu)
n.9562G>C
6g.51748330C>TCA364422398PKHD1c.9286G>A (p.Val3096Met)
c.9157G>A (p.Val3053Met)
c.9148G>A (p.Val3050Met)
c.8644G>A (p.Val2882Met)
c.8575G>A (p.Val2859Met)
c.3361G>A (p.Val1121Met)
c.9211G>A (p.Val3071Met)
c.9091G>A (p.Val3031Met)
c.9022G>A (p.Val3008Met)
c.7426G>A (p.Val2476Met)
n.9562G>A
6g.51748331A=CA1628503122PKHD1c.9285T= (p.Val3095=)
c.9156T= (p.Val3052=)
c.9147T= (p.Val3049=)
c.8643T= (p.Val2881=)
c.8574T= (p.Val2858=)
c.3360T= (p.Val1120=)
c.9210T= (p.Val3070=)
c.9090T= (p.Val3030=)
c.9021T= (p.Val3007=)
c.7425T= (p.Val2475=)
n.9561T=
6g.51748331A>CCA450613539PKHD1c.9285T>G (p.Val3095=)
c.9156T>G (p.Val3052=)
c.9147T>G (p.Val3049=)
c.8643T>G (p.Val2881=)
c.8574T>G (p.Val2858=)
c.3360T>G (p.Val1120=)
c.9210T>G (p.Val3070=)
c.9090T>G (p.Val3030=)
c.9021T>G (p.Val3007=)
c.7425T>G (p.Val2475=)
n.9561T>G
6g.51748331A>GCA450613540PKHD1c.9285T>C (p.Val3095=)
c.9156T>C (p.Val3052=)
c.9147T>C (p.Val3049=)
c.8643T>C (p.Val2881=)
c.8574T>C (p.Val2858=)
c.3360T>C (p.Val1120=)
c.9210T>C (p.Val3070=)
c.9090T>C (p.Val3030=)
c.9021T>C (p.Val3007=)
c.7425T>C (p.Val2475=)
n.9561T>C
 ClinVar
6g.51748331A>TCA450613541PKHD1c.9285T>A (p.Val3095=)
c.9156T>A (p.Val3052=)
c.9147T>A (p.Val3049=)
c.8643T>A (p.Val2881=)
c.8574T>A (p.Val2858=)
c.3360T>A (p.Val1120=)
c.9210T>A (p.Val3070=)
c.9090T>A (p.Val3030=)
c.9021T>A (p.Val3007=)
c.7425T>A (p.Val2475=)
n.9561T>A
 ClinVar dbSNP gnomAD v4
6g.51748332A=CA1628503126PKHD1c.9284T= (p.Val3095=)
c.9155T= (p.Val3052=)
c.9146T= (p.Val3049=)
c.8642T= (p.Val2881=)
c.8573T= (p.Val2858=)
c.3359T= (p.Val1120=)
c.9209T= (p.Val3070=)
c.9089T= (p.Val3030=)
c.9020T= (p.Val3007=)
c.7424T= (p.Val2475=)
n.9560T=
6g.51748332A>CCA364422399PKHD1c.9284T>G (p.Val3095Gly)
c.9155T>G (p.Val3052Gly)
c.9146T>G (p.Val3049Gly)
c.8642T>G (p.Val2881Gly)
c.8573T>G (p.Val2858Gly)
c.3359T>G (p.Val1120Gly)
c.9209T>G (p.Val3070Gly)
c.9089T>G (p.Val3030Gly)
c.9020T>G (p.Val3007Gly)
c.7424T>G (p.Val2475Gly)
n.9560T>G
6g.51748332A>GCA364422400PKHD1c.9284T>C (p.Val3095Ala)
c.9155T>C (p.Val3052Ala)
c.9146T>C (p.Val3049Ala)
c.8642T>C (p.Val2881Ala)
c.8573T>C (p.Val2858Ala)
c.3359T>C (p.Val1120Ala)
c.9209T>C (p.Val3070Ala)
c.9089T>C (p.Val3030Ala)
c.9020T>C (p.Val3007Ala)
c.7424T>C (p.Val2475Ala)
n.9560T>C
 gnomAD v4
6g.51748332A>TCA3851416PKHD1c.9284T>A (p.Val3095Asp)
c.9155T>A (p.Val3052Asp)
c.9146T>A (p.Val3049Asp)
c.8642T>A (p.Val2881Asp)
c.8573T>A (p.Val2858Asp)
c.3359T>A (p.Val1120Asp)
c.9209T>A (p.Val3070Asp)
c.9089T>A (p.Val3030Asp)
c.9020T>A (p.Val3007Asp)
c.7424T>A (p.Val2475Asp)
n.9560T>A
 dbSNP ExAC gnomAD v2
6g.51748333C>ACA364422401PKHD1c.9283G>T (p.Val3095Phe)
c.9154G>T (p.Val3052Phe)
c.9145G>T (p.Val3049Phe)
c.8641G>T (p.Val2881Phe)
c.8572G>T (p.Val2858Phe)
c.3358G>T (p.Val1120Phe)
c.9208G>T (p.Val3070Phe)
c.9088G>T (p.Val3030Phe)
c.9019G>T (p.Val3007Phe)
c.7423G>T (p.Val2475Phe)
n.9559G>T
 gnomAD v4 COSMIC COSMIC
6g.51748333C=CA1628503134PKHD1c.9283G= (p.Val3095=)
c.9154G= (p.Val3052=)
c.9145G= (p.Val3049=)
c.8641G= (p.Val2881=)
c.8572G= (p.Val2858=)
c.3358G= (p.Val1120=)
c.9208G= (p.Val3070=)
c.9088G= (p.Val3030=)
c.9019G= (p.Val3007=)
c.7423G= (p.Val2475=)
n.9559G=
6g.51748333C>GCA364422402PKHD1c.9283G>C (p.Val3095Leu)
c.9154G>C (p.Val3052Leu)
c.9145G>C (p.Val3049Leu)
c.8641G>C (p.Val2881Leu)
c.8572G>C (p.Val2858Leu)
c.3358G>C (p.Val1120Leu)
c.9208G>C (p.Val3070Leu)
c.9088G>C (p.Val3030Leu)
c.9019G>C (p.Val3007Leu)
c.7423G>C (p.Val2475Leu)
n.9559G>C
6g.51748333C>TCA3851417PKHD1c.9283G>A (p.Val3095Ile)
c.9154G>A (p.Val3052Ile)
c.9145G>A (p.Val3049Ile)
c.8641G>A (p.Val2881Ile)
c.8572G>A (p.Val2858Ile)
c.3358G>A (p.Val1120Ile)
c.9208G>A (p.Val3070Ile)
c.9088G>A (p.Val3030Ile)
c.9019G>A (p.Val3007Ile)
c.7423G>A (p.Val2475Ile)
n.9559G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748334G>ACA3851418PKHD1c.9282C>T (p.Asn3094=)
c.9153C>T (p.Asn3051=)
c.9144C>T (p.Asn3048=)
c.8640C>T (p.Asn2880=)
c.8571C>T (p.Asn2857=)
c.3357C>T (p.Asn1119=)
c.9207C>T (p.Asn3069=)
c.9087C>T (p.Asn3029=)
c.9018C>T (p.Asn3006=)
c.7422C>T (p.Asn2474=)
n.9558C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748334G>CCA364422403PKHD1c.9282C>G (p.Asn3094Lys)
c.9153C>G (p.Asn3051Lys)
c.9144C>G (p.Asn3048Lys)
c.8640C>G (p.Asn2880Lys)
c.8571C>G (p.Asn2857Lys)
c.3357C>G (p.Asn1119Lys)
c.9207C>G (p.Asn3069Lys)
c.9087C>G (p.Asn3029Lys)
c.9018C>G (p.Asn3006Lys)
c.7422C>G (p.Asn2474Lys)
n.9558C>G
6g.51748334G=CA1628503144PKHD1c.9282C= (p.Asn3094=)
c.9153C= (p.Asn3051=)
c.9144C= (p.Asn3048=)
c.8640C= (p.Asn2880=)
c.8571C= (p.Asn2857=)
c.3357C= (p.Asn1119=)
c.9207C= (p.Asn3069=)
c.9087C= (p.Asn3029=)
c.9018C= (p.Asn3006=)
c.7422C= (p.Asn2474=)
n.9558C=
6g.51748334G>TCA364422404PKHD1c.9282C>A (p.Asn3094Lys)
c.9153C>A (p.Asn3051Lys)
c.9144C>A (p.Asn3048Lys)
c.8640C>A (p.Asn2880Lys)
c.8571C>A (p.Asn2857Lys)
c.3357C>A (p.Asn1119Lys)
c.9207C>A (p.Asn3069Lys)
c.9087C>A (p.Asn3029Lys)
c.9018C>A (p.Asn3006Lys)
c.7422C>A (p.Asn2474Lys)
n.9558C>A
 COSMIC COSMIC
6g.51748335T>ACA364422405PKHD1c.9281A>T (p.Asn3094Ile)
c.9152A>T (p.Asn3051Ile)
c.9143A>T (p.Asn3048Ile)
c.8639A>T (p.Asn2880Ile)
c.8570A>T (p.Asn2857Ile)
c.3356A>T (p.Asn1119Ile)
c.9206A>T (p.Asn3069Ile)
c.9086A>T (p.Asn3029Ile)
c.9017A>T (p.Asn3006Ile)
c.7421A>T (p.Asn2474Ile)
n.9557A>T
6g.51748335T>CCA364422406PKHD1c.9281A>G (p.Asn3094Ser)
c.9152A>G (p.Asn3051Ser)
c.9143A>G (p.Asn3048Ser)
c.8639A>G (p.Asn2880Ser)
c.8570A>G (p.Asn2857Ser)
c.3356A>G (p.Asn1119Ser)
c.9206A>G (p.Asn3069Ser)
c.9086A>G (p.Asn3029Ser)
c.9017A>G (p.Asn3006Ser)
c.7421A>G (p.Asn2474Ser)
n.9557A>G
 gnomAD v4
6g.51748335T>GCA364422407PKHD1c.9281A>C (p.Asn3094Thr)
c.9152A>C (p.Asn3051Thr)
c.9143A>C (p.Asn3048Thr)
c.8639A>C (p.Asn2880Thr)
c.8570A>C (p.Asn2857Thr)
c.3356A>C (p.Asn1119Thr)
c.9206A>C (p.Asn3069Thr)
c.9086A>C (p.Asn3029Thr)
c.9017A>C (p.Asn3006Thr)
c.7421A>C (p.Asn2474Thr)
n.9557A>C
6g.51748336T>ACA364422408PKHD1c.9280A>T (p.Asn3094Tyr)
c.9151A>T (p.Asn3051Tyr)
c.9142A>T (p.Asn3048Tyr)
c.8638A>T (p.Asn2880Tyr)
c.8569A>T (p.Asn2857Tyr)
c.3355A>T (p.Asn1119Tyr)
c.9205A>T (p.Asn3069Tyr)
c.9085A>T (p.Asn3029Tyr)
c.9016A>T (p.Asn3006Tyr)
c.7420A>T (p.Asn2474Tyr)
n.9556A>T
6g.51748336T>CCA364422409PKHD1c.9280A>G (p.Asn3094Asp)
c.9151A>G (p.Asn3051Asp)
c.9142A>G (p.Asn3048Asp)
c.8638A>G (p.Asn2880Asp)
c.8569A>G (p.Asn2857Asp)
c.3355A>G (p.Asn1119Asp)
c.9205A>G (p.Asn3069Asp)
c.9085A>G (p.Asn3029Asp)
c.9016A>G (p.Asn3006Asp)
c.7420A>G (p.Asn2474Asp)
n.9556A>G
6g.51748336T>GCA364422410PKHD1c.9280A>C (p.Asn3094His)
c.9151A>C (p.Asn3051His)
c.9142A>C (p.Asn3048His)
c.8638A>C (p.Asn2880His)
c.8569A>C (p.Asn2857His)
c.3355A>C (p.Asn1119His)
c.9205A>C (p.Asn3069His)
c.9085A>C (p.Asn3029His)
c.9016A>C (p.Asn3006His)
c.7420A>C (p.Asn2474His)
n.9556A>C
 gnomAD v4
6g.51748337G>ACA450613546PKHD1c.9279C>T (p.Gly3093=)
c.9150C>T (p.Gly3050=)
c.9141C>T (p.Gly3047=)
c.8637C>T (p.Gly2879=)
c.8568C>T (p.Gly2856=)
c.3354C>T (p.Gly1118=)
c.9204C>T (p.Gly3068=)
c.9084C>T (p.Gly3028=)
c.9015C>T (p.Gly3005=)
c.7419C>T (p.Gly2473=)
n.9555C>T
6g.51748337G>CCA450613545PKHD1c.9279C>G (p.Gly3093=)
c.9150C>G (p.Gly3050=)
c.9141C>G (p.Gly3047=)
c.8637C>G (p.Gly2879=)
c.8568C>G (p.Gly2856=)
c.3354C>G (p.Gly1118=)
c.9204C>G (p.Gly3068=)
c.9084C>G (p.Gly3028=)
c.9015C>G (p.Gly3005=)
c.7419C>G (p.Gly2473=)
n.9555C>G
6g.51748337G=CA1628503150PKHD1c.9279C= (p.Gly3093=)
c.9150C= (p.Gly3050=)
c.9141C= (p.Gly3047=)
c.8637C= (p.Gly2879=)
c.8568C= (p.Gly2856=)
c.3354C= (p.Gly1118=)
c.9204C= (p.Gly3068=)
c.9084C= (p.Gly3028=)
c.9015C= (p.Gly3005=)
c.7419C= (p.Gly2473=)
n.9555C=
6g.51748337G>TCA450613543PKHD1c.9279C>A (p.Gly3093=)
c.9150C>A (p.Gly3050=)
c.9141C>A (p.Gly3047=)
c.8637C>A (p.Gly2879=)
c.8568C>A (p.Gly2856=)
c.3354C>A (p.Gly1118=)
c.9204C>A (p.Gly3068=)
c.9084C>A (p.Gly3028=)
c.9015C>A (p.Gly3005=)
c.7419C>A (p.Gly2473=)
n.9555C>A
 dbSNP
6g.51748338C>ACA364422411PKHD1c.9278G>T (p.Gly3093Val)
c.9149G>T (p.Gly3050Val)
c.9140G>T (p.Gly3047Val)
c.8636G>T (p.Gly2879Val)
c.8567G>T (p.Gly2856Val)
c.3353G>T (p.Gly1118Val)
c.9203G>T (p.Gly3068Val)
c.9083G>T (p.Gly3028Val)
c.9014G>T (p.Gly3005Val)
c.7418G>T (p.Gly2473Val)
n.9554G>T
6g.51748338C=CA1628503153PKHD1c.9278G= (p.Gly3093=)
c.9149G= (p.Gly3050=)
c.9140G= (p.Gly3047=)
c.8636G= (p.Gly2879=)
c.8567G= (p.Gly2856=)
c.3353G= (p.Gly1118=)
c.9203G= (p.Gly3068=)
c.9083G= (p.Gly3028=)
c.9014G= (p.Gly3005=)
c.7418G= (p.Gly2473=)
n.9554G=
6g.51748338C>GCA364422412PKHD1c.9278G>C (p.Gly3093Ala)
c.9149G>C (p.Gly3050Ala)
c.9140G>C (p.Gly3047Ala)
c.8636G>C (p.Gly2879Ala)
c.8567G>C (p.Gly2856Ala)
c.3353G>C (p.Gly1118Ala)
c.9203G>C (p.Gly3068Ala)
c.9083G>C (p.Gly3028Ala)
c.9014G>C (p.Gly3005Ala)
c.7418G>C (p.Gly2473Ala)
n.9554G>C
6g.51748338C>TCA3851419PKHD1c.9278G>A (p.Gly3093Asp)
c.9149G>A (p.Gly3050Asp)
c.9140G>A (p.Gly3047Asp)
c.8636G>A (p.Gly2879Asp)
c.8567G>A (p.Gly2856Asp)
c.3353G>A (p.Gly1118Asp)
c.9203G>A (p.Gly3068Asp)
c.9083G>A (p.Gly3028Asp)
c.9014G>A (p.Gly3005Asp)
c.7418G>A (p.Gly2473Asp)
n.9554G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748339C>ACA364422413PKHD1c.9277G>T (p.Gly3093Cys)
c.9148G>T (p.Gly3050Cys)
c.9139G>T (p.Gly3047Cys)
c.8635G>T (p.Gly2879Cys)
c.8566G>T (p.Gly2856Cys)
c.3352G>T (p.Gly1118Cys)
c.9202G>T (p.Gly3068Cys)
c.9082G>T (p.Gly3028Cys)
c.9013G>T (p.Gly3005Cys)
c.7417G>T (p.Gly2473Cys)
n.9553G>T
6g.51748339C>GCA364422415PKHD1c.9277G>C (p.Gly3093Arg)
c.9148G>C (p.Gly3050Arg)
c.9139G>C (p.Gly3047Arg)
c.8635G>C (p.Gly2879Arg)
c.8566G>C (p.Gly2856Arg)
c.3352G>C (p.Gly1118Arg)
c.9202G>C (p.Gly3068Arg)
c.9082G>C (p.Gly3028Arg)
c.9013G>C (p.Gly3005Arg)
c.7417G>C (p.Gly2473Arg)
n.9553G>C
6g.51748339C>TCA364422414PKHD1c.9277G>A (p.Gly3093Ser)
c.9148G>A (p.Gly3050Ser)
c.9139G>A (p.Gly3047Ser)
c.8635G>A (p.Gly2879Ser)
c.8566G>A (p.Gly2856Ser)
c.3352G>A (p.Gly1118Ser)
c.9202G>A (p.Gly3068Ser)
c.9082G>A (p.Gly3028Ser)
c.9013G>A (p.Gly3005Ser)
c.7417G>A (p.Gly2473Ser)
n.9553G>A
6g.51748340A>CCA364422416PKHD1c.9276T>G (p.His3092Gln)
c.9147T>G (p.His3049Gln)
c.9138T>G (p.His3046Gln)
c.8634T>G (p.His2878Gln)
c.8565T>G (p.His2855Gln)
c.3351T>G (p.His1117Gln)
c.9201T>G (p.His3067Gln)
c.9081T>G (p.His3027Gln)
c.9012T>G (p.His3004Gln)
c.7416T>G (p.His2472Gln)
n.9552T>G
6g.51748340A>GCA450613549PKHD1c.9276T>C (p.His3092=)
c.9147T>C (p.His3049=)
c.9138T>C (p.His3046=)
c.8634T>C (p.His2878=)
c.8565T>C (p.His2855=)
c.3351T>C (p.His1117=)
c.9201T>C (p.His3067=)
c.9081T>C (p.His3027=)
c.9012T>C (p.His3004=)
c.7416T>C (p.His2472=)
n.9552T>C
 ClinVar
6g.51748340A>TCA364422417PKHD1c.9276T>A (p.His3092Gln)
c.9147T>A (p.His3049Gln)
c.9138T>A (p.His3046Gln)
c.8634T>A (p.His2878Gln)
c.8565T>A (p.His2855Gln)
c.3351T>A (p.His1117Gln)
c.9201T>A (p.His3067Gln)
c.9081T>A (p.His3027Gln)
c.9012T>A (p.His3004Gln)
c.7416T>A (p.His2472Gln)
n.9552T>A
 gnomAD v4
6g.51748341T>ACA364422418PKHD1c.9275A>T (p.His3092Leu)
c.9146A>T (p.His3049Leu)
c.9137A>T (p.His3046Leu)
c.8633A>T (p.His2878Leu)
c.8564A>T (p.His2855Leu)
c.3350A>T (p.His1117Leu)
c.9200A>T (p.His3067Leu)
c.9080A>T (p.His3027Leu)
c.9011A>T (p.His3004Leu)
c.7415A>T (p.His2472Leu)
n.9551A>T
6g.51748341T>CCA138896478PKHD1c.9275A>G (p.His3092Arg)
c.9146A>G (p.His3049Arg)
c.9137A>G (p.His3046Arg)
c.8633A>G (p.His2878Arg)
c.8564A>G (p.His2855Arg)
c.3350A>G (p.His1117Arg)
c.9200A>G (p.His3067Arg)
c.9080A>G (p.His3027Arg)
c.9011A>G (p.His3004Arg)
c.7415A>G (p.His2472Arg)
n.9551A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748341T>GCA364422419PKHD1c.9275A>C (p.His3092Pro)
c.9146A>C (p.His3049Pro)
c.9137A>C (p.His3046Pro)
c.8633A>C (p.His2878Pro)
c.8564A>C (p.His2855Pro)
c.3350A>C (p.His1117Pro)
c.9200A>C (p.His3067Pro)
c.9080A>C (p.His3027Pro)
c.9011A>C (p.His3004Pro)
c.7415A>C (p.His2472Pro)
n.9551A>C
6g.51748341T=CA1628503158PKHD1c.9275A= (p.His3092=)
c.9146A= (p.His3049=)
c.9137A= (p.His3046=)
c.8633A= (p.His2878=)
c.8564A= (p.His2855=)
c.3350A= (p.His1117=)
c.9200A= (p.His3067=)
c.9080A= (p.His3027=)
c.9011A= (p.His3004=)
c.7415A= (p.His2472=)
n.9551A=
6g.51748342G>ACA364422420PKHD1c.9274C>T (p.His3092Tyr)
c.9145C>T (p.His3049Tyr)
c.9136C>T (p.His3046Tyr)
c.8632C>T (p.His2878Tyr)
c.8563C>T (p.His2855Tyr)
c.3349C>T (p.His1117Tyr)
c.9199C>T (p.His3067Tyr)
c.9079C>T (p.His3027Tyr)
c.9010C>T (p.His3004Tyr)
c.7414C>T (p.His2472Tyr)
n.9550C>T
 COSMIC COSMIC
6g.51748342G>CCA364422421PKHD1c.9274C>G (p.His3092Asp)
c.9145C>G (p.His3049Asp)
c.9136C>G (p.His3046Asp)
c.8632C>G (p.His2878Asp)
c.8563C>G (p.His2855Asp)
c.3349C>G (p.His1117Asp)
c.9199C>G (p.His3067Asp)
c.9079C>G (p.His3027Asp)
c.9010C>G (p.His3004Asp)
c.7414C>G (p.His2472Asp)
n.9550C>G
6g.51748342G>TCA364422423PKHD1c.9274C>A (p.His3092Asn)
c.9145C>A (p.His3049Asn)
c.9136C>A (p.His3046Asn)
c.8632C>A (p.His2878Asn)
c.8563C>A (p.His2855Asn)
c.3349C>A (p.His1117Asn)
c.9199C>A (p.His3067Asn)
c.9079C>A (p.His3027Asn)
c.9010C>A (p.His3004Asn)
c.7414C>A (p.His2472Asn)
n.9550C>A
6g.51748343G>ACA450613552PKHD1c.9273C>T (p.Leu3091=)
c.9144C>T (p.Leu3048=)
c.9135C>T (p.Leu3045=)
c.8631C>T (p.Leu2877=)
c.8562C>T (p.Leu2854=)
c.3348C>T (p.Leu1116=)
c.9198C>T (p.Leu3066=)
c.9078C>T (p.Leu3026=)
c.9009C>T (p.Leu3003=)
c.7413C>T (p.Leu2471=)
n.9549C>T
 gnomAD v4 COSMIC COSMIC
6g.51748343G>CCA450613553PKHD1c.9273C>G (p.Leu3091=)
c.9144C>G (p.Leu3048=)
c.9135C>G (p.Leu3045=)
c.8631C>G (p.Leu2877=)
c.8562C>G (p.Leu2854=)
c.3348C>G (p.Leu1116=)
c.9198C>G (p.Leu3066=)
c.9078C>G (p.Leu3026=)
c.9009C>G (p.Leu3003=)
c.7413C>G (p.Leu2471=)
n.9549C>G
6g.51748343G=CA1628503160PKHD1c.9273C= (p.Leu3091=)
c.9144C= (p.Leu3048=)
c.9135C= (p.Leu3045=)
c.8631C= (p.Leu2877=)
c.8562C= (p.Leu2854=)
c.3348C= (p.Leu1116=)
c.9198C= (p.Leu3066=)
c.9078C= (p.Leu3026=)
c.9009C= (p.Leu3003=)
c.7413C= (p.Leu2471=)
n.9549C=
6g.51748343G>TCA450613554PKHD1c.9273C>A (p.Leu3091=)
c.9144C>A (p.Leu3048=)
c.9135C>A (p.Leu3045=)
c.8631C>A (p.Leu2877=)
c.8562C>A (p.Leu2854=)
c.3348C>A (p.Leu1116=)
c.9198C>A (p.Leu3066=)
c.9078C>A (p.Leu3026=)
c.9009C>A (p.Leu3003=)
c.7413C>A (p.Leu2471=)
n.9549C>A
 ClinVar dbSNP
6g.51748344A>CCA364422426PKHD1c.9272T>G (p.Leu3091Arg)
c.9143T>G (p.Leu3048Arg)
c.9134T>G (p.Leu3045Arg)
c.8630T>G (p.Leu2877Arg)
c.8561T>G (p.Leu2854Arg)
c.3347T>G (p.Leu1116Arg)
c.9197T>G (p.Leu3066Arg)
c.9077T>G (p.Leu3026Arg)
c.9008T>G (p.Leu3003Arg)
c.7412T>G (p.Leu2471Arg)
n.9548T>G
6g.51748344A>GCA364422428PKHD1c.9272T>C (p.Leu3091Pro)
c.9143T>C (p.Leu3048Pro)
c.9134T>C (p.Leu3045Pro)
c.8630T>C (p.Leu2877Pro)
c.8561T>C (p.Leu2854Pro)
c.3347T>C (p.Leu1116Pro)
c.9197T>C (p.Leu3066Pro)
c.9077T>C (p.Leu3026Pro)
c.9008T>C (p.Leu3003Pro)
c.7412T>C (p.Leu2471Pro)
n.9548T>C
6g.51748344A>TCA364422429PKHD1c.9272T>A (p.Leu3091His)
c.9143T>A (p.Leu3048His)
c.9134T>A (p.Leu3045His)
c.8630T>A (p.Leu2877His)
c.8561T>A (p.Leu2854His)
c.3347T>A (p.Leu1116His)
c.9197T>A (p.Leu3066His)
c.9077T>A (p.Leu3026His)
c.9008T>A (p.Leu3003His)
c.7412T>A (p.Leu2471His)
n.9548T>A
6g.51748345G>ACA364422433PKHD1c.9271C>T (p.Leu3091Phe)
c.9142C>T (p.Leu3048Phe)
c.9133C>T (p.Leu3045Phe)
c.8629C>T (p.Leu2877Phe)
c.8560C>T (p.Leu2854Phe)
c.3346C>T (p.Leu1116Phe)
c.9196C>T (p.Leu3066Phe)
c.9076C>T (p.Leu3026Phe)
c.9007C>T (p.Leu3003Phe)
c.7411C>T (p.Leu2471Phe)
n.9547C>T
6g.51748345G>CCA364422432PKHD1c.9271C>G (p.Leu3091Val)
c.9142C>G (p.Leu3048Val)
c.9133C>G (p.Leu3045Val)
c.8629C>G (p.Leu2877Val)
c.8560C>G (p.Leu2854Val)
c.3346C>G (p.Leu1116Val)
c.9196C>G (p.Leu3066Val)
c.9076C>G (p.Leu3026Val)
c.9007C>G (p.Leu3003Val)
c.7411C>G (p.Leu2471Val)
n.9547C>G
6g.51748345G>TCA364422431PKHD1c.9271C>A (p.Leu3091Ile)
c.9142C>A (p.Leu3048Ile)
c.9133C>A (p.Leu3045Ile)
c.8629C>A (p.Leu2877Ile)
c.8560C>A (p.Leu2854Ile)
c.3346C>A (p.Leu1116Ile)
c.9196C>A (p.Leu3066Ile)
c.9076C>A (p.Leu3026Ile)
c.9007C>A (p.Leu3003Ile)
c.7411C>A (p.Leu2471Ile)
n.9547C>A
 gnomAD v4
6g.51748346delCA2771040204PKHD1c.9271del (p.Leu3091SerfsTer?)
c.9142del (p.Leu3048SerfsTer?)
c.9133del (p.Leu3045SerfsTer?)
c.8629del (p.Leu2877SerfsTer?)
c.8560del (p.Leu2854SerfsTer?)
c.3346del (p.Leu1116SerfsTer?)
c.9196del (p.Leu3066SerfsTer?)
c.9076del (p.Leu3026SerfsTer?)
c.9007del (p.Leu3003SerfsTer?)
c.7411del (p.Leu2471SerfsTer?)
n.9547del
6g.51748346G>ACA450613560PKHD1c.9270C>T (p.Asn3090=)
c.9141C>T (p.Asn3047=)
c.9132C>T (p.Asn3044=)
c.8628C>T (p.Asn2876=)
c.8559C>T (p.Asn2853=)
c.3345C>T (p.Asn1115=)
c.9195C>T (p.Asn3065=)
c.9075C>T (p.Asn3025=)
c.9006C>T (p.Asn3002=)
c.7410C>T (p.Asn2470=)
n.9546C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748346G>CCA364422434PKHD1c.9270C>G (p.Asn3090Lys)
c.9141C>G (p.Asn3047Lys)
c.9132C>G (p.Asn3044Lys)
c.8628C>G (p.Asn2876Lys)
c.8559C>G (p.Asn2853Lys)
c.3345C>G (p.Asn1115Lys)
c.9195C>G (p.Asn3065Lys)
c.9075C>G (p.Asn3025Lys)
c.9006C>G (p.Asn3002Lys)
c.7410C>G (p.Asn2470Lys)
n.9546C>G
6g.51748346G=CA1628503165PKHD1c.9270C= (p.Asn3090=)
c.9141C= (p.Asn3047=)
c.9132C= (p.Asn3044=)
c.8628C= (p.Asn2876=)
c.8559C= (p.Asn2853=)
c.3345C= (p.Asn1115=)
c.9195C= (p.Asn3065=)
c.9075C= (p.Asn3025=)
c.9006C= (p.Asn3002=)
c.7410C= (p.Asn2470=)
n.9546C=
6g.51748346G>TCA3851420PKHD1c.9270C>A (p.Asn3090Lys)
c.9141C>A (p.Asn3047Lys)
c.9132C>A (p.Asn3044Lys)
c.8628C>A (p.Asn2876Lys)
c.8559C>A (p.Asn2853Lys)
c.3345C>A (p.Asn1115Lys)
c.9195C>A (p.Asn3065Lys)
c.9075C>A (p.Asn3025Lys)
c.9006C>A (p.Asn3002Lys)
c.7410C>A (p.Asn2470Lys)
n.9546C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748347T>ACA364422436PKHD1c.9269A>T (p.Asn3090Ile)
c.9140A>T (p.Asn3047Ile)
c.9131A>T (p.Asn3044Ile)
c.8627A>T (p.Asn2876Ile)
c.8558A>T (p.Asn2853Ile)
c.3344A>T (p.Asn1115Ile)
c.9194A>T (p.Asn3065Ile)
c.9074A>T (p.Asn3025Ile)
c.9005A>T (p.Asn3002Ile)
c.7409A>T (p.Asn2470Ile)
n.9545A>T
6g.51748347T>CCA364422437PKHD1c.9269A>G (p.Asn3090Ser)
c.9140A>G (p.Asn3047Ser)
c.9131A>G (p.Asn3044Ser)
c.8627A>G (p.Asn2876Ser)
c.8558A>G (p.Asn2853Ser)
c.3344A>G (p.Asn1115Ser)
c.9194A>G (p.Asn3065Ser)
c.9074A>G (p.Asn3025Ser)
c.9005A>G (p.Asn3002Ser)
c.7409A>G (p.Asn2470Ser)
n.9545A>G
 ClinVar dbSNP gnomAD v4
6g.51748347T>GCA364422438PKHD1c.9269A>C (p.Asn3090Thr)
c.9140A>C (p.Asn3047Thr)
c.9131A>C (p.Asn3044Thr)
c.8627A>C (p.Asn2876Thr)
c.8558A>C (p.Asn2853Thr)
c.3344A>C (p.Asn1115Thr)
c.9194A>C (p.Asn3065Thr)
c.9074A>C (p.Asn3025Thr)
c.9005A>C (p.Asn3002Thr)
c.7409A>C (p.Asn2470Thr)
n.9545A>C
6g.51748347T=CA1628503170PKHD1c.9269A= (p.Asn3090=)
c.9140A= (p.Asn3047=)
c.9131A= (p.Asn3044=)
c.8627A= (p.Asn2876=)
c.8558A= (p.Asn2853=)
c.3344A= (p.Asn1115=)
c.9194A= (p.Asn3065=)
c.9074A= (p.Asn3025=)
c.9005A= (p.Asn3002=)
c.7409A= (p.Asn2470=)
n.9545A=
6g.51748348T>ACA364422440PKHD1c.9268A>T (p.Asn3090Tyr)
c.9139A>T (p.Asn3047Tyr)
c.9130A>T (p.Asn3044Tyr)
c.8626A>T (p.Asn2876Tyr)
c.8557A>T (p.Asn2853Tyr)
c.3343A>T (p.Asn1115Tyr)
c.9193A>T (p.Asn3065Tyr)
c.9073A>T (p.Asn3025Tyr)
c.9004A>T (p.Asn3002Tyr)
c.7408A>T (p.Asn2470Tyr)
n.9544A>T
6g.51748348T>CCA364422445PKHD1c.9268A>G (p.Asn3090Asp)
c.9139A>G (p.Asn3047Asp)
c.9130A>G (p.Asn3044Asp)
c.8626A>G (p.Asn2876Asp)
c.8557A>G (p.Asn2853Asp)
c.3343A>G (p.Asn1115Asp)
c.9193A>G (p.Asn3065Asp)
c.9073A>G (p.Asn3025Asp)
c.9004A>G (p.Asn3002Asp)
c.7408A>G (p.Asn2470Asp)
n.9544A>G
 ClinVar dbSNP gnomAD v4
6g.51748348T>GCA364422448PKHD1c.9268A>C (p.Asn3090His)
c.9139A>C (p.Asn3047His)
c.9130A>C (p.Asn3044His)
c.8626A>C (p.Asn2876His)
c.8557A>C (p.Asn2853His)
c.3343A>C (p.Asn1115His)
c.9193A>C (p.Asn3065His)
c.9073A>C (p.Asn3025His)
c.9004A>C (p.Asn3002His)
c.7408A>C (p.Asn2470His)
n.9544A>C
6g.51748348T=CA1628503178PKHD1c.9268A= (p.Asn3090=)
c.9139A= (p.Asn3047=)
c.9130A= (p.Asn3044=)
c.8626A= (p.Asn2876=)
c.8557A= (p.Asn2853=)
c.3343A= (p.Asn1115=)
c.9193A= (p.Asn3065=)
c.9073A= (p.Asn3025=)
c.9004A= (p.Asn3002=)
c.7408A= (p.Asn2470=)
n.9544A=
6g.51748349G>ACA450613562PKHD1c.9267C>T (p.Ile3089=)
c.9138C>T (p.Ile3046=)
c.9129C>T (p.Ile3043=)
c.8625C>T (p.Ile2875=)
c.8556C>T (p.Ile2852=)
c.3342C>T (p.Ile1114=)
c.9192C>T (p.Ile3064=)
c.9072C>T (p.Ile3024=)
c.9003C>T (p.Ile3001=)
c.7407C>T (p.Ile2469=)
n.9543C>T
 ClinVar dbSNP
6g.51748349G>CCA364422449PKHD1c.9267C>G (p.Ile3089Met)
c.9138C>G (p.Ile3046Met)
c.9129C>G (p.Ile3043Met)
c.8625C>G (p.Ile2875Met)
c.8556C>G (p.Ile2852Met)
c.3342C>G (p.Ile1114Met)
c.9192C>G (p.Ile3064Met)
c.9072C>G (p.Ile3024Met)
c.9003C>G (p.Ile3001Met)
c.7407C>G (p.Ile2469Met)
n.9543C>G
 gnomAD v4
6g.51748349G=CA1628503184PKHD1c.9267C= (p.Ile3089=)
c.9138C= (p.Ile3046=)
c.9129C= (p.Ile3043=)
c.8625C= (p.Ile2875=)
c.8556C= (p.Ile2852=)
c.3342C= (p.Ile1114=)
c.9192C= (p.Ile3064=)
c.9072C= (p.Ile3024=)
c.9003C= (p.Ile3001=)
c.7407C= (p.Ile2469=)
n.9543C=
6g.51748349G>TCA450613564PKHD1c.9267C>A (p.Ile3089=)
c.9138C>A (p.Ile3046=)
c.9129C>A (p.Ile3043=)
c.8625C>A (p.Ile2875=)
c.8556C>A (p.Ile2852=)
c.3342C>A (p.Ile1114=)
c.9192C>A (p.Ile3064=)
c.9072C>A (p.Ile3024=)
c.9003C>A (p.Ile3001=)
c.7407C>A (p.Ile2469=)
n.9543C>A
6g.51748350A>CCA364422450PKHD1c.9266T>G (p.Ile3089Ser)
c.9137T>G (p.Ile3046Ser)
c.9128T>G (p.Ile3043Ser)
c.8624T>G (p.Ile2875Ser)
c.8555T>G (p.Ile2852Ser)
c.3341T>G (p.Ile1114Ser)
c.9191T>G (p.Ile3064Ser)
c.9071T>G (p.Ile3024Ser)
c.9002T>G (p.Ile3001Ser)
c.7406T>G (p.Ile2469Ser)
n.9542T>G
 gnomAD v4
6g.51748350A>GCA364422453PKHD1c.9266T>C (p.Ile3089Thr)
c.9137T>C (p.Ile3046Thr)
c.9128T>C (p.Ile3043Thr)
c.8624T>C (p.Ile2875Thr)
c.8555T>C (p.Ile2852Thr)
c.3341T>C (p.Ile1114Thr)
c.9191T>C (p.Ile3064Thr)
c.9071T>C (p.Ile3024Thr)
c.9002T>C (p.Ile3001Thr)
c.7406T>C (p.Ile2469Thr)
n.9542T>C
6g.51748350A>TCA364422454PKHD1c.9266T>A (p.Ile3089Asn)
c.9137T>A (p.Ile3046Asn)
c.9128T>A (p.Ile3043Asn)
c.8624T>A (p.Ile2875Asn)
c.8555T>A (p.Ile2852Asn)
c.3341T>A (p.Ile1114Asn)
c.9191T>A (p.Ile3064Asn)
c.9071T>A (p.Ile3024Asn)
c.9002T>A (p.Ile3001Asn)
c.7406T>A (p.Ile2469Asn)
n.9542T>A
6g.51748351T>ACA364422461PKHD1c.9265A>T (p.Ile3089Phe)
c.9136A>T (p.Ile3046Phe)
c.9127A>T (p.Ile3043Phe)
c.8623A>T (p.Ile2875Phe)
c.8554A>T (p.Ile2852Phe)
c.3340A>T (p.Ile1114Phe)
c.9190A>T (p.Ile3064Phe)
c.9070A>T (p.Ile3024Phe)
c.9001A>T (p.Ile3001Phe)
c.7405A>T (p.Ile2469Phe)
n.9541A>T
6g.51748351T>CCA364422459PKHD1c.9265A>G (p.Ile3089Val)
c.9136A>G (p.Ile3046Val)
c.9127A>G (p.Ile3043Val)
c.8623A>G (p.Ile2875Val)
c.8554A>G (p.Ile2852Val)
c.3340A>G (p.Ile1114Val)
c.9190A>G (p.Ile3064Val)
c.9070A>G (p.Ile3024Val)
c.9001A>G (p.Ile3001Val)
c.7405A>G (p.Ile2469Val)
n.9541A>G
6g.51748351T>GCA364422456PKHD1c.9265A>C (p.Ile3089Leu)
c.9136A>C (p.Ile3046Leu)
c.9127A>C (p.Ile3043Leu)
c.8623A>C (p.Ile2875Leu)
c.8554A>C (p.Ile2852Leu)
c.3340A>C (p.Ile1114Leu)
c.9190A>C (p.Ile3064Leu)
c.9070A>C (p.Ile3024Leu)
c.9001A>C (p.Ile3001Leu)
c.7405A>C (p.Ile2469Leu)
n.9541A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748351T=CA1628503194PKHD1c.9265A= (p.Ile3089=)
c.9136A= (p.Ile3046=)
c.9127A= (p.Ile3043=)
c.8623A= (p.Ile2875=)
c.8554A= (p.Ile2852=)
c.3340A= (p.Ile1114=)
c.9190A= (p.Ile3064=)
c.9070A= (p.Ile3024=)
c.9001A= (p.Ile3001=)
c.7405A= (p.Ile2469=)
n.9541A=
6g.51748352G>ACA450613569PKHD1c.9264C>T (p.Asp3088=)
c.9135C>T (p.Asp3045=)
c.9126C>T (p.Asp3042=)
c.8622C>T (p.Asp2874=)
c.8553C>T (p.Asp2851=)
c.3339C>T (p.Asp1113=)
c.9189C>T (p.Asp3063=)
c.9069C>T (p.Asp3023=)
c.9000C>T (p.Asp3000=)
c.7404C>T (p.Asp2468=)
n.9540C>T
6g.51748352G>CCA364422464PKHD1c.9264C>G (p.Asp3088Glu)
c.9135C>G (p.Asp3045Glu)
c.9126C>G (p.Asp3042Glu)
c.8622C>G (p.Asp2874Glu)
c.8553C>G (p.Asp2851Glu)
c.3339C>G (p.Asp1113Glu)
c.9189C>G (p.Asp3063Glu)
c.9069C>G (p.Asp3023Glu)
c.9000C>G (p.Asp3000Glu)
c.7404C>G (p.Asp2468Glu)
n.9540C>G
6g.51748352G>TCA364422466PKHD1c.9264C>A (p.Asp3088Glu)
c.9135C>A (p.Asp3045Glu)
c.9126C>A (p.Asp3042Glu)
c.8622C>A (p.Asp2874Glu)
c.8553C>A (p.Asp2851Glu)
c.3339C>A (p.Asp1113Glu)
c.9189C>A (p.Asp3063Glu)
c.9069C>A (p.Asp3023Glu)
c.9000C>A (p.Asp3000Glu)
c.7404C>A (p.Asp2468Glu)
n.9540C>A
6g.51748352_51748353insAGGAGATGAGAAGGGAGAGGCACGCAGGGGCCTGGTGGTGAAGGATCCA2740743487PKHD1c.9263_9264insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp3088GlufsTer?)
c.9134_9135insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp3045GlufsTer?)
c.9125_9126insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp3042GlufsTer?)
c.8621_8622insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp2874GlufsTer?)
c.8552_8553insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp2851GlufsTer?)
c.3338_3339insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp1113GlufsTer?)
c.9188_9189insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp3063GlufsTer?)
c.9068_9069insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp3023GlufsTer?)
c.8999_9000insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp3000GlufsTer?)
c.7403_7404insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT (p.Asp2468GlufsTer?)
n.9539_9540insGATCCTTCACCACCAGGCCCCTGCGTGCCTCTCCCTTCTCATCTCCT
6g.51748353T>ACA364422467PKHD1c.9263A>T (p.Asp3088Val)
c.9134A>T (p.Asp3045Val)
c.9125A>T (p.Asp3042Val)
c.8621A>T (p.Asp2874Val)
c.8552A>T (p.Asp2851Val)
c.3338A>T (p.Asp1113Val)
c.9188A>T (p.Asp3063Val)
c.9068A>T (p.Asp3023Val)
c.8999A>T (p.Asp3000Val)
c.7403A>T (p.Asp2468Val)
n.9539A>T
6g.51748353T>CCA364422468PKHD1c.9263A>G (p.Asp3088Gly)
c.9134A>G (p.Asp3045Gly)
c.9125A>G (p.Asp3042Gly)
c.8621A>G (p.Asp2874Gly)
c.8552A>G (p.Asp2851Gly)
c.3338A>G (p.Asp1113Gly)
c.9188A>G (p.Asp3063Gly)
c.9068A>G (p.Asp3023Gly)
c.8999A>G (p.Asp3000Gly)
c.7403A>G (p.Asp2468Gly)
n.9539A>G
 dbSNP gnomAD v4
6g.51748353T>GCA138896495PKHD1c.9263A>C (p.Asp3088Ala)
c.9134A>C (p.Asp3045Ala)
c.9125A>C (p.Asp3042Ala)
c.8621A>C (p.Asp2874Ala)
c.8552A>C (p.Asp2851Ala)
c.3338A>C (p.Asp1113Ala)
c.9188A>C (p.Asp3063Ala)
c.9068A>C (p.Asp3023Ala)
c.8999A>C (p.Asp3000Ala)
c.7403A>C (p.Asp2468Ala)
n.9539A>C
 dbSNP
6g.51748353T=CA1628503201PKHD1c.9263A= (p.Asp3088=)
c.9134A= (p.Asp3045=)
c.9125A= (p.Asp3042=)
c.8621A= (p.Asp2874=)
c.8552A= (p.Asp2851=)
c.3338A= (p.Asp1113=)
c.9188A= (p.Asp3063=)
c.9068A= (p.Asp3023=)
c.8999A= (p.Asp3000=)
c.7403A= (p.Asp2468=)
n.9539A=
6g.51748354C>ACA364422471PKHD1c.9262G>T (p.Asp3088Tyr)
c.9133G>T (p.Asp3045Tyr)
c.9124G>T (p.Asp3042Tyr)
c.8620G>T (p.Asp2874Tyr)
c.8551G>T (p.Asp2851Tyr)
c.3337G>T (p.Asp1113Tyr)
c.9187G>T (p.Asp3063Tyr)
c.9067G>T (p.Asp3023Tyr)
c.8998G>T (p.Asp3000Tyr)
c.7402G>T (p.Asp2468Tyr)
n.9538G>T
6g.51748354C=CA1628503211PKHD1c.9262G= (p.Asp3088=)
c.9133G= (p.Asp3045=)
c.9124G= (p.Asp3042=)
c.8620G= (p.Asp2874=)
c.8551G= (p.Asp2851=)
c.3337G= (p.Asp1113=)
c.9187G= (p.Asp3063=)
c.9067G= (p.Asp3023=)
c.8998G= (p.Asp3000=)
c.7402G= (p.Asp2468=)
n.9538G=
6g.51748354C>GCA364422472PKHD1c.9262G>C (p.Asp3088His)
c.9133G>C (p.Asp3045His)
c.9124G>C (p.Asp3042His)
c.8620G>C (p.Asp2874His)
c.8551G>C (p.Asp2851His)
c.3337G>C (p.Asp1113His)
c.9187G>C (p.Asp3063His)
c.9067G>C (p.Asp3023His)
c.8998G>C (p.Asp3000His)
c.7402G>C (p.Asp2468His)
n.9538G>C
6g.51748354C>TCA3851421PKHD1c.9262G>A (p.Asp3088Asn)
c.9133G>A (p.Asp3045Asn)
c.9124G>A (p.Asp3042Asn)
c.8620G>A (p.Asp2874Asn)
c.8551G>A (p.Asp2851Asn)
c.3337G>A (p.Asp1113Asn)
c.9187G>A (p.Asp3063Asn)
c.9067G>A (p.Asp3023Asn)
c.8998G>A (p.Asp3000Asn)
c.7402G>A (p.Asp2468Asn)
n.9538G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748355C>ACA364422476PKHD1c.9261G>T (p.Lys3087Asn)
c.9132G>T (p.Lys3044Asn)
c.9123G>T (p.Lys3041Asn)
c.8619G>T (p.Lys2873Asn)
c.8550G>T (p.Lys2850Asn)
c.3336G>T (p.Lys1112Asn)
c.9186G>T (p.Lys3062Asn)
c.9066G>T (p.Lys3022Asn)
c.8997G>T (p.Lys2999Asn)
c.7401G>T (p.Lys2467Asn)
n.9537G>T
6g.51748355C=CA1628503227PKHD1c.9261G= (p.Lys3087=)
c.9132G= (p.Lys3044=)
c.9123G= (p.Lys3041=)
c.8619G= (p.Lys2873=)
c.8550G= (p.Lys2850=)
c.3336G= (p.Lys1112=)
c.9186G= (p.Lys3062=)
c.9066G= (p.Lys3022=)
c.8997G= (p.Lys2999=)
c.7401G= (p.Lys2467=)
n.9537G=
6g.51748355C>GCA364422477PKHD1c.9261G>C (p.Lys3087Asn)
c.9132G>C (p.Lys3044Asn)
c.9123G>C (p.Lys3041Asn)
c.8619G>C (p.Lys2873Asn)
c.8550G>C (p.Lys2850Asn)
c.3336G>C (p.Lys1112Asn)
c.9186G>C (p.Lys3062Asn)
c.9066G>C (p.Lys3022Asn)
c.8997G>C (p.Lys2999Asn)
c.7401G>C (p.Lys2467Asn)
n.9537G>C
6g.51748355C>TCA3851422PKHD1c.9261G>A (p.Lys3087=)
c.9132G>A (p.Lys3044=)
c.9123G>A (p.Lys3041=)
c.8619G>A (p.Lys2873=)
c.8550G>A (p.Lys2850=)
c.3336G>A (p.Lys1112=)
c.9186G>A (p.Lys3062=)
c.9066G>A (p.Lys3022=)
c.8997G>A (p.Lys2999=)
c.7401G>A (p.Lys2467=)
n.9537G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748356T>ACA364422478PKHD1c.9260A>T (p.Lys3087Met)
c.9131A>T (p.Lys3044Met)
c.9122A>T (p.Lys3041Met)
c.8618A>T (p.Lys2873Met)
c.8549A>T (p.Lys2850Met)
c.3335A>T (p.Lys1112Met)
c.9185A>T (p.Lys3062Met)
c.9065A>T (p.Lys3022Met)
c.8996A>T (p.Lys2999Met)
c.7400A>T (p.Lys2467Met)
n.9536A>T
6g.51748356T>CCA364422480PKHD1c.9260A>G (p.Lys3087Arg)
c.9131A>G (p.Lys3044Arg)
c.9122A>G (p.Lys3041Arg)
c.8618A>G (p.Lys2873Arg)
c.8549A>G (p.Lys2850Arg)
c.3335A>G (p.Lys1112Arg)
c.9185A>G (p.Lys3062Arg)
c.9065A>G (p.Lys3022Arg)
c.8996A>G (p.Lys2999Arg)
c.7400A>G (p.Lys2467Arg)
n.9536A>G
6g.51748356T>GCA364422483PKHD1c.9260A>C (p.Lys3087Thr)
c.9131A>C (p.Lys3044Thr)
c.9122A>C (p.Lys3041Thr)
c.8618A>C (p.Lys2873Thr)
c.8549A>C (p.Lys2850Thr)
c.3335A>C (p.Lys1112Thr)
c.9185A>C (p.Lys3062Thr)
c.9065A>C (p.Lys3022Thr)
c.8996A>C (p.Lys2999Thr)
c.7400A>C (p.Lys2467Thr)
n.9536A>C
6g.51748357T>ACA364422484PKHD1c.9259A>T (p.Lys3087Ter)
c.9130A>T (p.Lys3044Ter)
c.9121A>T (p.Lys3041Ter)
c.8617A>T (p.Lys2873Ter)
c.8548A>T (p.Lys2850Ter)
c.3334A>T (p.Lys1112Ter)
c.9184A>T (p.Lys3062Ter)
c.9064A>T (p.Lys3022Ter)
c.8995A>T (p.Lys2999Ter)
c.7399A>T (p.Lys2467Ter)
n.9535A>T
6g.51748357T>CCA364422486PKHD1c.9259A>G (p.Lys3087Glu)
c.9130A>G (p.Lys3044Glu)
c.9121A>G (p.Lys3041Glu)
c.8617A>G (p.Lys2873Glu)
c.8548A>G (p.Lys2850Glu)
c.3334A>G (p.Lys1112Glu)
c.9184A>G (p.Lys3062Glu)
c.9064A>G (p.Lys3022Glu)
c.8995A>G (p.Lys2999Glu)
c.7399A>G (p.Lys2467Glu)
n.9535A>G
6g.51748357T>GCA364422488PKHD1c.9259A>C (p.Lys3087Gln)
c.9130A>C (p.Lys3044Gln)
c.9121A>C (p.Lys3041Gln)
c.8617A>C (p.Lys2873Gln)
c.8548A>C (p.Lys2850Gln)
c.3334A>C (p.Lys1112Gln)
c.9184A>C (p.Lys3062Gln)
c.9064A>C (p.Lys3022Gln)
c.8995A>C (p.Lys2999Gln)
c.7399A>C (p.Lys2467Gln)
n.9535A>C
6g.51748358T>ACA450613573PKHD1c.9258A>T (p.Val3086=)
c.9129A>T (p.Val3043=)
c.9120A>T (p.Val3040=)
c.8616A>T (p.Val2872=)
c.8547A>T (p.Val2849=)
c.3333A>T (p.Val1111=)
c.9183A>T (p.Val3061=)
c.9063A>T (p.Val3021=)
c.8994A>T (p.Val2998=)
c.7398A>T (p.Val2466=)
n.9534A>T
6g.51748358T>CCA450613575PKHD1c.9258A>G (p.Val3086=)
c.9129A>G (p.Val3043=)
c.9120A>G (p.Val3040=)
c.8616A>G (p.Val2872=)
c.8547A>G (p.Val2849=)
c.3333A>G (p.Val1111=)
c.9183A>G (p.Val3061=)
c.9063A>G (p.Val3021=)
c.8994A>G (p.Val2998=)
c.7398A>G (p.Val2466=)
n.9534A>G
 gnomAD v4
6g.51748358T>GCA450613577PKHD1c.9258A>C (p.Val3086=)
c.9129A>C (p.Val3043=)
c.9120A>C (p.Val3040=)
c.8616A>C (p.Val2872=)
c.8547A>C (p.Val2849=)
c.3333A>C (p.Val1111=)
c.9183A>C (p.Val3061=)
c.9063A>C (p.Val3021=)
c.8994A>C (p.Val2998=)
c.7398A>C (p.Val2466=)
n.9534A>C
6g.51748359A=CA1628503231PKHD1c.9257T= (p.Val3086=)
c.9128T= (p.Val3043=)
c.9119T= (p.Val3040=)
c.8615T= (p.Val2872=)
c.8546T= (p.Val2849=)
c.3332T= (p.Val1111=)
c.9182T= (p.Val3061=)
c.9062T= (p.Val3021=)
c.8993T= (p.Val2998=)
c.7397T= (p.Val2466=)
n.9533T=
6g.51748359A>CCA364422491PKHD1c.9257T>G (p.Val3086Gly)
c.9128T>G (p.Val3043Gly)
c.9119T>G (p.Val3040Gly)
c.8615T>G (p.Val2872Gly)
c.8546T>G (p.Val2849Gly)
c.3332T>G (p.Val1111Gly)
c.9182T>G (p.Val3061Gly)
c.9062T>G (p.Val3021Gly)
c.8993T>G (p.Val2998Gly)
c.7397T>G (p.Val2466Gly)
n.9533T>G
6g.51748359A>GCA364422489PKHD1c.9257T>C (p.Val3086Ala)
c.9128T>C (p.Val3043Ala)
c.9119T>C (p.Val3040Ala)
c.8615T>C (p.Val2872Ala)
c.8546T>C (p.Val2849Ala)
c.3332T>C (p.Val1111Ala)
c.9182T>C (p.Val3061Ala)
c.9062T>C (p.Val3021Ala)
c.8993T>C (p.Val2998Ala)
c.7397T>C (p.Val2466Ala)
n.9533T>C
6g.51748359A>TCA364422490PKHD1c.9257T>A (p.Val3086Glu)
c.9128T>A (p.Val3043Glu)
c.9119T>A (p.Val3040Glu)
c.8615T>A (p.Val2872Glu)
c.8546T>A (p.Val2849Glu)
c.3332T>A (p.Val1111Glu)
c.9182T>A (p.Val3061Glu)
c.9062T>A (p.Val3021Glu)
c.8993T>A (p.Val2998Glu)
c.7397T>A (p.Val2466Glu)
n.9533T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748360C>ACA364422492PKHD1c.9256G>T (p.Val3086Leu)
c.9127G>T (p.Val3043Leu)
c.9118G>T (p.Val3040Leu)
c.8614G>T (p.Val2872Leu)
c.8545G>T (p.Val2849Leu)
c.3331G>T (p.Val1111Leu)
c.9181G>T (p.Val3061Leu)
c.9061G>T (p.Val3021Leu)
c.8992G>T (p.Val2998Leu)
c.7396G>T (p.Val2466Leu)
n.9532G>T
6g.51748360C=CA1628503236PKHD1c.9256G= (p.Val3086=)
c.9127G= (p.Val3043=)
c.9118G= (p.Val3040=)
c.8614G= (p.Val2872=)
c.8545G= (p.Val2849=)
c.3331G= (p.Val1111=)
c.9181G= (p.Val3061=)
c.9061G= (p.Val3021=)
c.8992G= (p.Val2998=)
c.7396G= (p.Val2466=)
n.9532G=
6g.51748360C>GCA364422493PKHD1c.9256G>C (p.Val3086Leu)
c.9127G>C (p.Val3043Leu)
c.9118G>C (p.Val3040Leu)
c.8614G>C (p.Val2872Leu)
c.8545G>C (p.Val2849Leu)
c.3331G>C (p.Val1111Leu)
c.9181G>C (p.Val3061Leu)
c.9061G>C (p.Val3021Leu)
c.8992G>C (p.Val2998Leu)
c.7396G>C (p.Val2466Leu)
n.9532G>C
6g.51748360C>TCA3851423PKHD1c.9256G>A (p.Val3086Ile)
c.9127G>A (p.Val3043Ile)
c.9118G>A (p.Val3040Ile)
c.8614G>A (p.Val2872Ile)
c.8545G>A (p.Val2849Ile)
c.3331G>A (p.Val1111Ile)
c.9181G>A (p.Val3061Ile)
c.9061G>A (p.Val3021Ile)
c.8992G>A (p.Val2998Ile)
c.7396G>A (p.Val2466Ile)
n.9532G>A
 dbSNP ExAC gnomAD v2
6g.51748361C>ACA364422495PKHD1c.9255G>T (p.Gln3085His)
c.9126G>T (p.Gln3042His)
c.9117G>T (p.Gln3039His)
c.8613G>T (p.Gln2871His)
c.8544G>T (p.Gln2848His)
c.3330G>T (p.Gln1110His)
c.9180G>T (p.Gln3060His)
c.9060G>T (p.Gln3020His)
c.8991G>T (p.Gln2997His)
c.7395G>T (p.Gln2465His)
n.9531G>T
6g.51748361C>GCA364422505PKHD1c.9255G>C (p.Gln3085His)
c.9126G>C (p.Gln3042His)
c.9117G>C (p.Gln3039His)
c.8613G>C (p.Gln2871His)
c.8544G>C (p.Gln2848His)
c.3330G>C (p.Gln1110His)
c.9180G>C (p.Gln3060His)
c.9060G>C (p.Gln3020His)
c.8991G>C (p.Gln2997His)
c.7395G>C (p.Gln2465His)
n.9531G>C
 gnomAD v4
6g.51748361C>TCA450613578PKHD1c.9255G>A (p.Gln3085=)
c.9126G>A (p.Gln3042=)
c.9117G>A (p.Gln3039=)
c.8613G>A (p.Gln2871=)
c.8544G>A (p.Gln2848=)
c.3330G>A (p.Gln1110=)
c.9180G>A (p.Gln3060=)
c.9060G>A (p.Gln3020=)
c.8991G>A (p.Gln2997=)
c.7395G>A (p.Gln2465=)
n.9531G>A
 gnomAD v4
6g.51748362T>ACA364422508PKHD1c.9254A>T (p.Gln3085Leu)
c.9125A>T (p.Gln3042Leu)
c.9116A>T (p.Gln3039Leu)
c.8612A>T (p.Gln2871Leu)
c.8543A>T (p.Gln2848Leu)
c.3329A>T (p.Gln1110Leu)
c.9179A>T (p.Gln3060Leu)
c.9059A>T (p.Gln3020Leu)
c.8990A>T (p.Gln2997Leu)
c.7394A>T (p.Gln2465Leu)
n.9530A>T
6g.51748362T>CCA364422509PKHD1c.9254A>G (p.Gln3085Arg)
c.9125A>G (p.Gln3042Arg)
c.9116A>G (p.Gln3039Arg)
c.8612A>G (p.Gln2871Arg)
c.8543A>G (p.Gln2848Arg)
c.3329A>G (p.Gln1110Arg)
c.9179A>G (p.Gln3060Arg)
c.9059A>G (p.Gln3020Arg)
c.8990A>G (p.Gln2997Arg)
c.7394A>G (p.Gln2465Arg)
n.9530A>G
 dbSNP
6g.51748362T>GCA364422510PKHD1c.9254A>C (p.Gln3085Pro)
c.9125A>C (p.Gln3042Pro)
c.9116A>C (p.Gln3039Pro)
c.8612A>C (p.Gln2871Pro)
c.8543A>C (p.Gln2848Pro)
c.3329A>C (p.Gln1110Pro)
c.9179A>C (p.Gln3060Pro)
c.9059A>C (p.Gln3020Pro)
c.8990A>C (p.Gln2997Pro)
c.7394A>C (p.Gln2465Pro)
n.9530A>C
6g.51748362T=CA1628503242PKHD1c.9254A= (p.Gln3085=)
c.9125A= (p.Gln3042=)
c.9116A= (p.Gln3039=)
c.8612A= (p.Gln2871=)
c.8543A= (p.Gln2848=)
c.3329A= (p.Gln1110=)
c.9179A= (p.Gln3060=)
c.9059A= (p.Gln3020=)
c.8990A= (p.Gln2997=)
c.7394A= (p.Gln2465=)
n.9530A=
6g.51748363G>ACA364422514PKHD1c.9253C>T (p.Gln3085Ter)
c.9124C>T (p.Gln3042Ter)
c.9115C>T (p.Gln3039Ter)
c.8611C>T (p.Gln2871Ter)
c.8542C>T (p.Gln2848Ter)
c.3328C>T (p.Gln1110Ter)
c.9178C>T (p.Gln3060Ter)
c.9058C>T (p.Gln3020Ter)
c.8989C>T (p.Gln2997Ter)
c.7393C>T (p.Gln2465Ter)
n.9529C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748363G>CCA364422527PKHD1c.9253C>G (p.Gln3085Glu)
c.9124C>G (p.Gln3042Glu)
c.9115C>G (p.Gln3039Glu)
c.8611C>G (p.Gln2871Glu)
c.8542C>G (p.Gln2848Glu)
c.3328C>G (p.Gln1110Glu)
c.9178C>G (p.Gln3060Glu)
c.9058C>G (p.Gln3020Glu)
c.8989C>G (p.Gln2997Glu)
c.7393C>G (p.Gln2465Glu)
n.9529C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51748363G=CA1628503248PKHD1c.9253C= (p.Gln3085=)
c.9124C= (p.Gln3042=)
c.9115C= (p.Gln3039=)
c.8611C= (p.Gln2871=)
c.8542C= (p.Gln2848=)
c.3328C= (p.Gln1110=)
c.9178C= (p.Gln3060=)
c.9058C= (p.Gln3020=)
c.8989C= (p.Gln2997=)
c.7393C= (p.Gln2465=)
n.9529C=
6g.51748363G>TCA364422532PKHD1c.9253C>A (p.Gln3085Lys)
c.9124C>A (p.Gln3042Lys)
c.9115C>A (p.Gln3039Lys)
c.8611C>A (p.Gln2871Lys)
c.8542C>A (p.Gln2848Lys)
c.3328C>A (p.Gln1110Lys)
c.9178C>A (p.Gln3060Lys)
c.9058C>A (p.Gln3020Lys)
c.8989C>A (p.Gln2997Lys)
c.7393C>A (p.Gln2465Lys)
n.9529C>A
6g.51748364G>ACA450613580PKHD1c.9252C>T (p.Asn3084=)
c.9123C>T (p.Asn3041=)
c.9114C>T (p.Asn3038=)
c.8610C>T (p.Asn2870=)
c.8541C>T (p.Asn2847=)
c.3327C>T (p.Asn1109=)
c.9177C>T (p.Asn3059=)
c.9057C>T (p.Asn3019=)
c.8988C>T (p.Asn2996=)
c.7392C>T (p.Asn2464=)
n.9528C>T
6g.51748364G>CCA364422534PKHD1c.9252C>G (p.Asn3084Lys)
c.9123C>G (p.Asn3041Lys)
c.9114C>G (p.Asn3038Lys)
c.8610C>G (p.Asn2870Lys)
c.8541C>G (p.Asn2847Lys)
c.3327C>G (p.Asn1109Lys)
c.9177C>G (p.Asn3059Lys)
c.9057C>G (p.Asn3019Lys)
c.8988C>G (p.Asn2996Lys)
c.7392C>G (p.Asn2464Lys)
n.9528C>G
6g.51748364G>TCA364422537PKHD1c.9252C>A (p.Asn3084Lys)
c.9123C>A (p.Asn3041Lys)
c.9114C>A (p.Asn3038Lys)
c.8610C>A (p.Asn2870Lys)
c.8541C>A (p.Asn2847Lys)
c.3327C>A (p.Asn1109Lys)
c.9177C>A (p.Asn3059Lys)
c.9057C>A (p.Asn3019Lys)
c.8988C>A (p.Asn2996Lys)
c.7392C>A (p.Asn2464Lys)
n.9528C>A
6g.51748365T>ACA364422541PKHD1c.9251A>T (p.Asn3084Ile)
c.9122A>T (p.Asn3041Ile)
c.9113A>T (p.Asn3038Ile)
c.8609A>T (p.Asn2870Ile)
c.8540A>T (p.Asn2847Ile)
c.3326A>T (p.Asn1109Ile)
c.9176A>T (p.Asn3059Ile)
c.9056A>T (p.Asn3019Ile)
c.8987A>T (p.Asn2996Ile)
c.7391A>T (p.Asn2464Ile)
n.9527A>T
6g.51748365T>CCA364422542PKHD1c.9251A>G (p.Asn3084Ser)
c.9122A>G (p.Asn3041Ser)
c.9113A>G (p.Asn3038Ser)
c.8609A>G (p.Asn2870Ser)
c.8540A>G (p.Asn2847Ser)
c.3326A>G (p.Asn1109Ser)
c.9176A>G (p.Asn3059Ser)
c.9056A>G (p.Asn3019Ser)
c.8987A>G (p.Asn2996Ser)
c.7391A>G (p.Asn2464Ser)
n.9527A>G
6g.51748365T>GCA364422543PKHD1c.9251A>C (p.Asn3084Thr)
c.9122A>C (p.Asn3041Thr)
c.9113A>C (p.Asn3038Thr)
c.8609A>C (p.Asn2870Thr)
c.8540A>C (p.Asn2847Thr)
c.3326A>C (p.Asn1109Thr)
c.9176A>C (p.Asn3059Thr)
c.9056A>C (p.Asn3019Thr)
c.8987A>C (p.Asn2996Thr)
c.7391A>C (p.Asn2464Thr)
n.9527A>C
6g.51748366T>ACA364422544PKHD1c.9250A>T (p.Asn3084Tyr)
c.9121A>T (p.Asn3041Tyr)
c.9112A>T (p.Asn3038Tyr)
c.8608A>T (p.Asn2870Tyr)
c.8539A>T (p.Asn2847Tyr)
c.3325A>T (p.Asn1109Tyr)
c.9175A>T (p.Asn3059Tyr)
c.9055A>T (p.Asn3019Tyr)
c.8986A>T (p.Asn2996Tyr)
c.7390A>T (p.Asn2464Tyr)
n.9526A>T
6g.51748366T>CCA364422545PKHD1c.9250A>G (p.Asn3084Asp)
c.9121A>G (p.Asn3041Asp)
c.9112A>G (p.Asn3038Asp)
c.8608A>G (p.Asn2870Asp)
c.8539A>G (p.Asn2847Asp)
c.3325A>G (p.Asn1109Asp)
c.9175A>G (p.Asn3059Asp)
c.9055A>G (p.Asn3019Asp)
c.8986A>G (p.Asn2996Asp)
c.7390A>G (p.Asn2464Asp)
n.9526A>G
6g.51748366T>GCA364422546PKHD1c.9250A>C (p.Asn3084His)
c.9121A>C (p.Asn3041His)
c.9112A>C (p.Asn3038His)
c.8608A>C (p.Asn2870His)
c.8539A>C (p.Asn2847His)
c.3325A>C (p.Asn1109His)
c.9175A>C (p.Asn3059His)
c.9055A>C (p.Asn3019His)
c.8986A>C (p.Asn2996His)
c.7390A>C (p.Asn2464His)
n.9526A>C
6g.51748367C>ACA450613583PKHD1c.9249G>T (p.Val3083=)
c.9120G>T (p.Val3040=)
c.9111G>T (p.Val3037=)
c.8607G>T (p.Val2869=)
c.8538G>T (p.Val2846=)
c.3324G>T (p.Val1108=)
c.9174G>T (p.Val3058=)
c.9054G>T (p.Val3018=)
c.8985G>T (p.Val2995=)
c.7389G>T (p.Val2463=)
n.9525G>T
6g.51748367C=CA1628503252PKHD1c.9249G= (p.Val3083=)
c.9120G= (p.Val3040=)
c.9111G= (p.Val3037=)
c.8607G= (p.Val2869=)
c.8538G= (p.Val2846=)
c.3324G= (p.Val1108=)
c.9174G= (p.Val3058=)
c.9054G= (p.Val3018=)
c.8985G= (p.Val2995=)
c.7389G= (p.Val2463=)
n.9525G=
6g.51748367C>GCA450613584PKHD1c.9249G>C (p.Val3083=)
c.9120G>C (p.Val3040=)
c.9111G>C (p.Val3037=)
c.8607G>C (p.Val2869=)
c.8538G>C (p.Val2846=)
c.3324G>C (p.Val1108=)
c.9174G>C (p.Val3058=)
c.9054G>C (p.Val3018=)
c.8985G>C (p.Val2995=)
c.7389G>C (p.Val2463=)
n.9525G>C
 gnomAD v4
6g.51748367C>TCA138896511PKHD1c.9249G>A (p.Val3083=)
c.9120G>A (p.Val3040=)
c.9111G>A (p.Val3037=)
c.8607G>A (p.Val2869=)
c.8538G>A (p.Val2846=)
c.3324G>A (p.Val1108=)
c.9174G>A (p.Val3058=)
c.9054G>A (p.Val3018=)
c.8985G>A (p.Val2995=)
c.7389G>A (p.Val2463=)
n.9525G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748368A=CA1628503256PKHD1c.9248T= (p.Val3083=)
c.9119T= (p.Val3040=)
c.9110T= (p.Val3037=)
c.8606T= (p.Val2869=)
c.8537T= (p.Val2846=)
c.3323T= (p.Val1108=)
c.9173T= (p.Val3058=)
c.9053T= (p.Val3018=)
c.8984T= (p.Val2995=)
c.7388T= (p.Val2463=)
n.9524T=
6g.51748368A>CCA364422547PKHD1c.9248T>G (p.Val3083Gly)
c.9119T>G (p.Val3040Gly)
c.9110T>G (p.Val3037Gly)
c.8606T>G (p.Val2869Gly)
c.8537T>G (p.Val2846Gly)
c.3323T>G (p.Val1108Gly)
c.9173T>G (p.Val3058Gly)
c.9053T>G (p.Val3018Gly)
c.8984T>G (p.Val2995Gly)
c.7388T>G (p.Val2463Gly)
n.9524T>G
6g.51748368A>GCA3851424PKHD1c.9248T>C (p.Val3083Ala)
c.9119T>C (p.Val3040Ala)
c.9110T>C (p.Val3037Ala)
c.8606T>C (p.Val2869Ala)
c.8537T>C (p.Val2846Ala)
c.3323T>C (p.Val1108Ala)
c.9173T>C (p.Val3058Ala)
c.9053T>C (p.Val3018Ala)
c.8984T>C (p.Val2995Ala)
c.7388T>C (p.Val2463Ala)
n.9524T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748368A>TCA364422552PKHD1c.9248T>A (p.Val3083Glu)
c.9119T>A (p.Val3040Glu)
c.9110T>A (p.Val3037Glu)
c.8606T>A (p.Val2869Glu)
c.8537T>A (p.Val2846Glu)
c.3323T>A (p.Val1108Glu)
c.9173T>A (p.Val3058Glu)
c.9053T>A (p.Val3018Glu)
c.8984T>A (p.Val2995Glu)
c.7388T>A (p.Val2463Glu)
n.9524T>A
 gnomAD v4
6g.51748369C>ACA364422553PKHD1c.9247G>T (p.Val3083Leu)
c.9118G>T (p.Val3040Leu)
c.9109G>T (p.Val3037Leu)
c.8605G>T (p.Val2869Leu)
c.8536G>T (p.Val2846Leu)
c.3322G>T (p.Val1108Leu)
c.9172G>T (p.Val3058Leu)
c.9052G>T (p.Val3018Leu)
c.8983G>T (p.Val2995Leu)
c.7387G>T (p.Val2463Leu)
n.9523G>T
6g.51748369C=CA1628503264PKHD1c.9247G= (p.Val3083=)
c.9118G= (p.Val3040=)
c.9109G= (p.Val3037=)
c.8605G= (p.Val2869=)
c.8536G= (p.Val2846=)
c.3322G= (p.Val1108=)
c.9172G= (p.Val3058=)
c.9052G= (p.Val3018=)
c.8983G= (p.Val2995=)
c.7387G= (p.Val2463=)
n.9523G=
6g.51748369C>GCA364422562PKHD1c.9247G>C (p.Val3083Leu)
c.9118G>C (p.Val3040Leu)
c.9109G>C (p.Val3037Leu)
c.8605G>C (p.Val2869Leu)
c.8536G>C (p.Val2846Leu)
c.3322G>C (p.Val1108Leu)
c.9172G>C (p.Val3058Leu)
c.9052G>C (p.Val3018Leu)
c.8983G>C (p.Val2995Leu)
c.7387G>C (p.Val2463Leu)
n.9523G>C
6g.51748369C>TCA364422567PKHD1c.9247G>A (p.Val3083Met)
c.9118G>A (p.Val3040Met)
c.9109G>A (p.Val3037Met)
c.8605G>A (p.Val2869Met)
c.8536G>A (p.Val2846Met)
c.3322G>A (p.Val1108Met)
c.9172G>A (p.Val3058Met)
c.9052G>A (p.Val3018Met)
c.8983G>A (p.Val2995Met)
c.7387G>A (p.Val2463Met)
n.9523G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748370T>ACA364422576PKHD1c.9246A>T (p.Lys3082Asn)
c.9117A>T (p.Lys3039Asn)
c.9108A>T (p.Lys3036Asn)
c.8604A>T (p.Lys2868Asn)
c.8535A>T (p.Lys2845Asn)
c.3321A>T (p.Lys1107Asn)
c.9171A>T (p.Lys3057Asn)
c.9051A>T (p.Lys3017Asn)
c.8982A>T (p.Lys2994Asn)
c.7386A>T (p.Lys2462Asn)
n.9522A>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748370T>CCA450613586PKHD1c.9246A>G (p.Lys3082=)
c.9117A>G (p.Lys3039=)
c.9108A>G (p.Lys3036=)
c.8604A>G (p.Lys2868=)
c.8535A>G (p.Lys2845=)
c.3321A>G (p.Lys1107=)
c.9171A>G (p.Lys3057=)
c.9051A>G (p.Lys3017=)
c.8982A>G (p.Lys2994=)
c.7386A>G (p.Lys2462=)
n.9522A>G
6g.51748370T>GCA364422571PKHD1c.9246A>C (p.Lys3082Asn)
c.9117A>C (p.Lys3039Asn)
c.9108A>C (p.Lys3036Asn)
c.8604A>C (p.Lys2868Asn)
c.8535A>C (p.Lys2845Asn)
c.3321A>C (p.Lys1107Asn)
c.9171A>C (p.Lys3057Asn)
c.9051A>C (p.Lys3017Asn)
c.8982A>C (p.Lys2994Asn)
c.7386A>C (p.Lys2462Asn)
n.9522A>C
 gnomAD v4
6g.51748370T=CA1628503267PKHD1c.9246A= (p.Lys3082=)
c.9117A= (p.Lys3039=)
c.9108A= (p.Lys3036=)
c.8604A= (p.Lys2868=)
c.8535A= (p.Lys2845=)
c.3321A= (p.Lys1107=)
c.9171A= (p.Lys3057=)
c.9051A= (p.Lys3017=)
c.8982A= (p.Lys2994=)
c.7386A= (p.Lys2462=)
n.9522A=
6g.51748371T>ACA364422578PKHD1c.9245A>T (p.Lys3082Ile)
c.9116A>T (p.Lys3039Ile)
c.9107A>T (p.Lys3036Ile)
c.8603A>T (p.Lys2868Ile)
c.8534A>T (p.Lys2845Ile)
c.3320A>T (p.Lys1107Ile)
c.9170A>T (p.Lys3057Ile)
c.9050A>T (p.Lys3017Ile)
c.8981A>T (p.Lys2994Ile)
c.7385A>T (p.Lys2462Ile)
n.9521A>T
6g.51748371T>CCA3851425PKHD1c.9245A>G (p.Lys3082Arg)
c.9116A>G (p.Lys3039Arg)
c.9107A>G (p.Lys3036Arg)
c.8603A>G (p.Lys2868Arg)
c.8534A>G (p.Lys2845Arg)
c.3320A>G (p.Lys1107Arg)
c.9170A>G (p.Lys3057Arg)
c.9050A>G (p.Lys3017Arg)
c.8981A>G (p.Lys2994Arg)
c.7385A>G (p.Lys2462Arg)
n.9521A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.51748371T>GCA364422588PKHD1c.9245A>C (p.Lys3082Thr)
c.9116A>C (p.Lys3039Thr)
c.9107A>C (p.Lys3036Thr)
c.8603A>C (p.Lys2868Thr)
c.8534A>C (p.Lys2845Thr)
c.3320A>C (p.Lys1107Thr)
c.9170A>C (p.Lys3057Thr)
c.9050A>C (p.Lys3017Thr)
c.8981A>C (p.Lys2994Thr)
c.7385A>C (p.Lys2462Thr)
n.9521A>C
6g.51748371T=CA1628503271PKHD1c.9245A= (p.Lys3082=)
c.9116A= (p.Lys3039=)
c.9107A= (p.Lys3036=)
c.8603A= (p.Lys2868=)
c.8534A= (p.Lys2845=)
c.3320A= (p.Lys1107=)
c.9170A= (p.Lys3057=)
c.9050A= (p.Lys3017=)
c.8981A= (p.Lys2994=)
c.7385A= (p.Lys2462=)
n.9521A=
6g.51748372T>ACA364422591PKHD1c.9244A>T (p.Lys3082Ter)
c.9115A>T (p.Lys3039Ter)
c.9106A>T (p.Lys3036Ter)
c.8602A>T (p.Lys2868Ter)
c.8533A>T (p.Lys2845Ter)
c.3319A>T (p.Lys1107Ter)
c.9169A>T (p.Lys3057Ter)
c.9049A>T (p.Lys3017Ter)
c.8980A>T (p.Lys2994Ter)
c.7384A>T (p.Lys2462Ter)
n.9520A>T
6g.51748372T>CCA364422602PKHD1c.9244A>G (p.Lys3082Glu)
c.9115A>G (p.Lys3039Glu)
c.9106A>G (p.Lys3036Glu)
c.8602A>G (p.Lys2868Glu)
c.8533A>G (p.Lys2845Glu)
c.3319A>G (p.Lys1107Glu)
c.9169A>G (p.Lys3057Glu)
c.9049A>G (p.Lys3017Glu)
c.8980A>G (p.Lys2994Glu)
c.7384A>G (p.Lys2462Glu)
n.9520A>G
 dbSNP
6g.51748372T>GCA364422609PKHD1c.9244A>C (p.Lys3082Gln)
c.9115A>C (p.Lys3039Gln)
c.9106A>C (p.Lys3036Gln)
c.8602A>C (p.Lys2868Gln)
c.8533A>C (p.Lys2845Gln)
c.3319A>C (p.Lys1107Gln)
c.9169A>C (p.Lys3057Gln)
c.9049A>C (p.Lys3017Gln)
c.8980A>C (p.Lys2994Gln)
c.7384A>C (p.Lys2462Gln)
n.9520A>C
 dbSNP
6g.51748372T=CA1628503274PKHD1c.9244A= (p.Lys3082=)
c.9115A= (p.Lys3039=)
c.9106A= (p.Lys3036=)
c.8602A= (p.Lys2868=)
c.8533A= (p.Lys2845=)
c.3319A= (p.Lys1107=)
c.9169A= (p.Lys3057=)
c.9049A= (p.Lys3017=)
c.8980A= (p.Lys2994=)
c.7384A= (p.Lys2462=)
n.9520A=
6g.51748373G>ACA450613589PKHD1c.9243C>T (p.Ile3081=)
c.9114C>T (p.Ile3038=)
c.9105C>T (p.Ile3035=)
c.8601C>T (p.Ile2867=)
c.8532C>T (p.Ile2844=)
c.3318C>T (p.Ile1106=)
c.9168C>T (p.Ile3056=)
c.9048C>T (p.Ile3016=)
c.8979C>T (p.Ile2993=)
c.7383C>T (p.Ile2461=)
n.9519C>T
6g.51748373G>CCA364422613PKHD1c.9243C>G (p.Ile3081Met)
c.9114C>G (p.Ile3038Met)
c.9105C>G (p.Ile3035Met)
c.8601C>G (p.Ile2867Met)
c.8532C>G (p.Ile2844Met)
c.3318C>G (p.Ile1106Met)
c.9168C>G (p.Ile3056Met)
c.9048C>G (p.Ile3016Met)
c.8979C>G (p.Ile2993Met)
c.7383C>G (p.Ile2461Met)
n.9519C>G
6g.51748373G>TCA450613590PKHD1c.9243C>A (p.Ile3081=)
c.9114C>A (p.Ile3038=)
c.9105C>A (p.Ile3035=)
c.8601C>A (p.Ile2867=)
c.8532C>A (p.Ile2844=)
c.3318C>A (p.Ile1106=)
c.9168C>A (p.Ile3056=)
c.9048C>A (p.Ile3016=)
c.8979C>A (p.Ile2993=)
c.7383C>A (p.Ile2461=)
n.9519C>A
6g.51748374A>CCA364422616PKHD1c.9242T>G (p.Ile3081Ser)
c.9113T>G (p.Ile3038Ser)
c.9104T>G (p.Ile3035Ser)
c.8600T>G (p.Ile2867Ser)
c.8531T>G (p.Ile2844Ser)
c.3317T>G (p.Ile1106Ser)
c.9167T>G (p.Ile3056Ser)
c.9047T>G (p.Ile3016Ser)
c.8978T>G (p.Ile2993Ser)
c.7382T>G (p.Ile2461Ser)
n.9518T>G
6g.51748374A>GCA364422618PKHD1c.9242T>C (p.Ile3081Thr)
c.9113T>C (p.Ile3038Thr)
c.9104T>C (p.Ile3035Thr)
c.8600T>C (p.Ile2867Thr)
c.8531T>C (p.Ile2844Thr)
c.3317T>C (p.Ile1106Thr)
c.9167T>C (p.Ile3056Thr)
c.9047T>C (p.Ile3016Thr)
c.8978T>C (p.Ile2993Thr)
c.7382T>C (p.Ile2461Thr)
n.9518T>C
6g.51748374A>TCA364422621PKHD1c.9242T>A (p.Ile3081Asn)
c.9113T>A (p.Ile3038Asn)
c.9104T>A (p.Ile3035Asn)
c.8600T>A (p.Ile2867Asn)
c.8531T>A (p.Ile2844Asn)
c.3317T>A (p.Ile1106Asn)
c.9167T>A (p.Ile3056Asn)
c.9047T>A (p.Ile3016Asn)
c.8978T>A (p.Ile2993Asn)
c.7382T>A (p.Ile2461Asn)
n.9518T>A
6g.51748375T>ACA364422623PKHD1c.9241A>T (p.Ile3081Phe)
c.9112A>T (p.Ile3038Phe)
c.9103A>T (p.Ile3035Phe)
c.8599A>T (p.Ile2867Phe)
c.8530A>T (p.Ile2844Phe)
c.3316A>T (p.Ile1106Phe)
c.9166A>T (p.Ile3056Phe)
c.9046A>T (p.Ile3016Phe)
c.8977A>T (p.Ile2993Phe)
c.7381A>T (p.Ile2461Phe)
n.9517A>T
6g.51748375T>CCA3851426PKHD1c.9241A>G (p.Ile3081Val)
c.9112A>G (p.Ile3038Val)
c.9103A>G (p.Ile3035Val)
c.8599A>G (p.Ile2867Val)
c.8530A>G (p.Ile2844Val)
c.3316A>G (p.Ile1106Val)
c.9166A>G (p.Ile3056Val)
c.9046A>G (p.Ile3016Val)
c.8977A>G (p.Ile2993Val)
c.7381A>G (p.Ile2461Val)
n.9517A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748375T>GCA364422628PKHD1c.9241A>C (p.Ile3081Leu)
c.9112A>C (p.Ile3038Leu)
c.9103A>C (p.Ile3035Leu)
c.8599A>C (p.Ile2867Leu)
c.8530A>C (p.Ile2844Leu)
c.3316A>C (p.Ile1106Leu)
c.9166A>C (p.Ile3056Leu)
c.9046A>C (p.Ile3016Leu)
c.8977A>C (p.Ile2993Leu)
c.7381A>C (p.Ile2461Leu)
n.9517A>C
6g.51748375T=CA1628503278PKHD1c.9241A= (p.Ile3081=)
c.9112A= (p.Ile3038=)
c.9103A= (p.Ile3035=)
c.8599A= (p.Ile2867=)
c.8530A= (p.Ile2844=)
c.3316A= (p.Ile1106=)
c.9166A= (p.Ile3056=)
c.9046A= (p.Ile3016=)
c.8977A= (p.Ile2993=)
c.7381A= (p.Ile2461=)
n.9517A=

Number of alleles fetched