Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748470T>ACA364423513PKHD1c.9146A>T (p.His3049Leu)
c.9017A>T (p.His3006Leu)
c.9008A>T (p.His3003Leu)
c.8504A>T (p.His2835Leu)
c.8435A>T (p.His2812Leu)
c.3221A>T (p.His1074Leu)
c.9071A>T (p.His3024Leu)
c.8951A>T (p.His2984Leu)
c.8882A>T (p.His2961Leu)
c.7286A>T (p.His2429Leu)
n.9422A>T
6g.51748470T>CCA3851440PKHD1c.9146A>G (p.His3049Arg)
c.9017A>G (p.His3006Arg)
c.9008A>G (p.His3003Arg)
c.8504A>G (p.His2835Arg)
c.8435A>G (p.His2812Arg)
c.3221A>G (p.His1074Arg)
c.9071A>G (p.His3024Arg)
c.8951A>G (p.His2984Arg)
c.8882A>G (p.His2961Arg)
c.7286A>G (p.His2429Arg)
n.9422A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51748470T>GCA364423514PKHD1c.9146A>C (p.His3049Pro)
c.9017A>C (p.His3006Pro)
c.9008A>C (p.His3003Pro)
c.8504A>C (p.His2835Pro)
c.8435A>C (p.His2812Pro)
c.3221A>C (p.His1074Pro)
c.9071A>C (p.His3024Pro)
c.8951A>C (p.His2984Pro)
c.8882A>C (p.His2961Pro)
c.7286A>C (p.His2429Pro)
n.9422A>C
6g.51748470T=CA1628503519PKHD1c.9146A= (p.His3049=)
c.9017A= (p.His3006=)
c.9008A= (p.His3003=)
c.8504A= (p.His2835=)
c.8435A= (p.His2812=)
c.3221A= (p.His1074=)
c.9071A= (p.His3024=)
c.8951A= (p.His2984=)
c.8882A= (p.His2961=)
c.7286A= (p.His2429=)
n.9422A=
6g.51748471G>ACA364423515PKHD1c.9145C>T (p.His3049Tyr)
c.9016C>T (p.His3006Tyr)
c.9007C>T (p.His3003Tyr)
c.8503C>T (p.His2835Tyr)
c.8434C>T (p.His2812Tyr)
c.3220C>T (p.His1074Tyr)
c.9070C>T (p.His3024Tyr)
c.8950C>T (p.His2984Tyr)
c.8881C>T (p.His2961Tyr)
c.7285C>T (p.His2429Tyr)
n.9421C>T
 dbSNP
6g.51748471G>CCA364423517PKHD1c.9145C>G (p.His3049Asp)
c.9016C>G (p.His3006Asp)
c.9007C>G (p.His3003Asp)
c.8503C>G (p.His2835Asp)
c.8434C>G (p.His2812Asp)
c.3220C>G (p.His1074Asp)
c.9070C>G (p.His3024Asp)
c.8950C>G (p.His2984Asp)
c.8881C>G (p.His2961Asp)
c.7285C>G (p.His2429Asp)
n.9421C>G
6g.51748471G=CA1628503540PKHD1c.9145C= (p.His3049=)
c.9016C= (p.His3006=)
c.9007C= (p.His3003=)
c.8503C= (p.His2835=)
c.8434C= (p.His2812=)
c.3220C= (p.His1074=)
c.9070C= (p.His3024=)
c.8950C= (p.His2984=)
c.8881C= (p.His2961=)
c.7285C= (p.His2429=)
n.9421C=
6g.51748471G>TCA364423519PKHD1c.9145C>A (p.His3049Asn)
c.9016C>A (p.His3006Asn)
c.9007C>A (p.His3003Asn)
c.8503C>A (p.His2835Asn)
c.8434C>A (p.His2812Asn)
c.3220C>A (p.His1074Asn)
c.9070C>A (p.His3024Asn)
c.8950C>A (p.His2984Asn)
c.8881C>A (p.His2961Asn)
c.7285C>A (p.His2429Asn)
n.9421C>A
 gnomAD v4
6g.51748472G>ACA450613728PKHD1c.9144C>T (p.Gly3048=)
c.9015C>T (p.Gly3005=)
c.9006C>T (p.Gly3002=)
c.8502C>T (p.Gly2834=)
c.8433C>T (p.Gly2811=)
c.3219C>T (p.Gly1073=)
c.9069C>T (p.Gly3023=)
c.8949C>T (p.Gly2983=)
c.8880C>T (p.Gly2960=)
c.7284C>T (p.Gly2428=)
n.9420C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748472G>CCA3851441PKHD1c.9144C>G (p.Gly3048=)
c.9015C>G (p.Gly3005=)
c.9006C>G (p.Gly3002=)
c.8502C>G (p.Gly2834=)
c.8433C>G (p.Gly2811=)
c.3219C>G (p.Gly1073=)
c.9069C>G (p.Gly3023=)
c.8949C>G (p.Gly2983=)
c.8880C>G (p.Gly2960=)
c.7284C>G (p.Gly2428=)
n.9420C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748472G=CA1628503545PKHD1c.9144C= (p.Gly3048=)
c.9015C= (p.Gly3005=)
c.9006C= (p.Gly3002=)
c.8502C= (p.Gly2834=)
c.8433C= (p.Gly2811=)
c.3219C= (p.Gly1073=)
c.9069C= (p.Gly3023=)
c.8949C= (p.Gly2983=)
c.8880C= (p.Gly2960=)
c.7284C= (p.Gly2428=)
n.9420C=
6g.51748472G>TCA450613731PKHD1c.9144C>A (p.Gly3048=)
c.9015C>A (p.Gly3005=)
c.9006C>A (p.Gly3002=)
c.8502C>A (p.Gly2834=)
c.8433C>A (p.Gly2811=)
c.3219C>A (p.Gly1073=)
c.9069C>A (p.Gly3023=)
c.8949C>A (p.Gly2983=)
c.8880C>A (p.Gly2960=)
c.7284C>A (p.Gly2428=)
n.9420C>A
6g.51748473C>ACA364423523PKHD1c.9143G>T (p.Gly3048Val)
c.9014G>T (p.Gly3005Val)
c.9005G>T (p.Gly3002Val)
c.8501G>T (p.Gly2834Val)
c.8432G>T (p.Gly2811Val)
c.3218G>T (p.Gly1073Val)
c.9068G>T (p.Gly3023Val)
c.8948G>T (p.Gly2983Val)
c.8879G>T (p.Gly2960Val)
c.7283G>T (p.Gly2428Val)
n.9419G>T
6g.51748473C=CA1628503551PKHD1c.9143G= (p.Gly3048=)
c.9014G= (p.Gly3005=)
c.9005G= (p.Gly3002=)
c.8501G= (p.Gly2834=)
c.8432G= (p.Gly2811=)
c.3218G= (p.Gly1073=)
c.9068G= (p.Gly3023=)
c.8948G= (p.Gly2983=)
c.8879G= (p.Gly2960=)
c.7283G= (p.Gly2428=)
n.9419G=
6g.51748473C>GCA364423527PKHD1c.9143G>C (p.Gly3048Ala)
c.9014G>C (p.Gly3005Ala)
c.9005G>C (p.Gly3002Ala)
c.8501G>C (p.Gly2834Ala)
c.8432G>C (p.Gly2811Ala)
c.3218G>C (p.Gly1073Ala)
c.9068G>C (p.Gly3023Ala)
c.8948G>C (p.Gly2983Ala)
c.8879G>C (p.Gly2960Ala)
c.7283G>C (p.Gly2428Ala)
n.9419G>C
6g.51748473C>TCA364423524PKHD1c.9143G>A (p.Gly3048Asp)
c.9014G>A (p.Gly3005Asp)
c.9005G>A (p.Gly3002Asp)
c.8501G>A (p.Gly2834Asp)
c.8432G>A (p.Gly2811Asp)
c.3218G>A (p.Gly1073Asp)
c.9068G>A (p.Gly3023Asp)
c.8948G>A (p.Gly2983Asp)
c.8879G>A (p.Gly2960Asp)
c.7283G>A (p.Gly2428Asp)
n.9419G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748474C>ACA364423530PKHD1c.9142G>T (p.Gly3048Cys)
c.9013G>T (p.Gly3005Cys)
c.9004G>T (p.Gly3002Cys)
c.8500G>T (p.Gly2834Cys)
c.8431G>T (p.Gly2811Cys)
c.3217G>T (p.Gly1073Cys)
c.9067G>T (p.Gly3023Cys)
c.8947G>T (p.Gly2983Cys)
c.8878G>T (p.Gly2960Cys)
c.7282G>T (p.Gly2428Cys)
n.9418G>T
6g.51748474C>GCA364423536PKHD1c.9142G>C (p.Gly3048Arg)
c.9013G>C (p.Gly3005Arg)
c.9004G>C (p.Gly3002Arg)
c.8500G>C (p.Gly2834Arg)
c.8431G>C (p.Gly2811Arg)
c.3217G>C (p.Gly1073Arg)
c.9067G>C (p.Gly3023Arg)
c.8947G>C (p.Gly2983Arg)
c.8878G>C (p.Gly2960Arg)
c.7282G>C (p.Gly2428Arg)
n.9418G>C
6g.51748474C>TCA364423539PKHD1c.9142G>A (p.Gly3048Ser)
c.9013G>A (p.Gly3005Ser)
c.9004G>A (p.Gly3002Ser)
c.8500G>A (p.Gly2834Ser)
c.8431G>A (p.Gly2811Ser)
c.3217G>A (p.Gly1073Ser)
c.9067G>A (p.Gly3023Ser)
c.8947G>A (p.Gly2983Ser)
c.8878G>A (p.Gly2960Ser)
c.7282G>A (p.Gly2428Ser)
n.9418G>A
6g.51748475A>CCA450613734PKHD1c.9141T>G (p.Ala3047=)
c.9012T>G (p.Ala3004=)
c.9003T>G (p.Ala3001=)
c.8499T>G (p.Ala2833=)
c.8430T>G (p.Ala2810=)
c.3216T>G (p.Ala1072=)
c.9066T>G (p.Ala3022=)
c.8946T>G (p.Ala2982=)
c.8877T>G (p.Ala2959=)
c.7281T>G (p.Ala2427=)
n.9417T>G
6g.51748475A>GCA450613735PKHD1c.9141T>C (p.Ala3047=)
c.9012T>C (p.Ala3004=)
c.9003T>C (p.Ala3001=)
c.8499T>C (p.Ala2833=)
c.8430T>C (p.Ala2810=)
c.3216T>C (p.Ala1072=)
c.9066T>C (p.Ala3022=)
c.8946T>C (p.Ala2982=)
c.8877T>C (p.Ala2959=)
c.7281T>C (p.Ala2427=)
n.9417T>C
 ClinVar dbSNP
6g.51748475A>TCA450613737PKHD1c.9141T>A (p.Ala3047=)
c.9012T>A (p.Ala3004=)
c.9003T>A (p.Ala3001=)
c.8499T>A (p.Ala2833=)
c.8430T>A (p.Ala2810=)
c.3216T>A (p.Ala1072=)
c.9066T>A (p.Ala3022=)
c.8946T>A (p.Ala2982=)
c.8877T>A (p.Ala2959=)
c.7281T>A (p.Ala2427=)
n.9417T>A
6g.51748476G>ACA364423546PKHD1c.9140C>T (p.Ala3047Val)
c.9011C>T (p.Ala3004Val)
c.9002C>T (p.Ala3001Val)
c.8498C>T (p.Ala2833Val)
c.8429C>T (p.Ala2810Val)
c.3215C>T (p.Ala1072Val)
c.9065C>T (p.Ala3022Val)
c.8945C>T (p.Ala2982Val)
c.8876C>T (p.Ala2959Val)
c.7280C>T (p.Ala2427Val)
n.9416C>T
6g.51748476G>CCA364423548PKHD1c.9140C>G (p.Ala3047Gly)
c.9011C>G (p.Ala3004Gly)
c.9002C>G (p.Ala3001Gly)
c.8498C>G (p.Ala2833Gly)
c.8429C>G (p.Ala2810Gly)
c.3215C>G (p.Ala1072Gly)
c.9065C>G (p.Ala3022Gly)
c.8945C>G (p.Ala2982Gly)
c.8876C>G (p.Ala2959Gly)
c.7280C>G (p.Ala2427Gly)
n.9416C>G
6g.51748476G>TCA364423551PKHD1c.9140C>A (p.Ala3047Asp)
c.9011C>A (p.Ala3004Asp)
c.9002C>A (p.Ala3001Asp)
c.8498C>A (p.Ala2833Asp)
c.8429C>A (p.Ala2810Asp)
c.3215C>A (p.Ala1072Asp)
c.9065C>A (p.Ala3022Asp)
c.8945C>A (p.Ala2982Asp)
c.8876C>A (p.Ala2959Asp)
c.7280C>A (p.Ala2427Asp)
n.9416C>A
6g.51748477C>ACA364423555PKHD1c.9139G>T (p.Ala3047Ser)
c.9010G>T (p.Ala3004Ser)
c.9001G>T (p.Ala3001Ser)
c.8497G>T (p.Ala2833Ser)
c.8428G>T (p.Ala2810Ser)
c.3214G>T (p.Ala1072Ser)
c.9064G>T (p.Ala3022Ser)
c.8944G>T (p.Ala2982Ser)
c.8875G>T (p.Ala2959Ser)
c.7279G>T (p.Ala2427Ser)
n.9415G>T
6g.51748477C=CA1628503557PKHD1c.9139G= (p.Ala3047=)
c.9010G= (p.Ala3004=)
c.9001G= (p.Ala3001=)
c.8497G= (p.Ala2833=)
c.8428G= (p.Ala2810=)
c.3214G= (p.Ala1072=)
c.9064G= (p.Ala3022=)
c.8944G= (p.Ala2982=)
c.8875G= (p.Ala2959=)
c.7279G= (p.Ala2427=)
n.9415G=
6g.51748477C>GCA364423558PKHD1c.9139G>C (p.Ala3047Pro)
c.9010G>C (p.Ala3004Pro)
c.9001G>C (p.Ala3001Pro)
c.8497G>C (p.Ala2833Pro)
c.8428G>C (p.Ala2810Pro)
c.3214G>C (p.Ala1072Pro)
c.9064G>C (p.Ala3022Pro)
c.8944G>C (p.Ala2982Pro)
c.8875G>C (p.Ala2959Pro)
c.7279G>C (p.Ala2427Pro)
n.9415G>C
6g.51748477C>TCA364423559PKHD1c.9139G>A (p.Ala3047Thr)
c.9010G>A (p.Ala3004Thr)
c.9001G>A (p.Ala3001Thr)
c.8497G>A (p.Ala2833Thr)
c.8428G>A (p.Ala2810Thr)
c.3214G>A (p.Ala1072Thr)
c.9064G>A (p.Ala3022Thr)
c.8944G>A (p.Ala2982Thr)
c.8875G>A (p.Ala2959Thr)
c.7279G>A (p.Ala2427Thr)
n.9415G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748478T>ACA450613743PKHD1c.9138A>T (p.Thr3046=)
c.9009A>T (p.Thr3003=)
c.9000A>T (p.Thr3000=)
c.8496A>T (p.Thr2832=)
c.8427A>T (p.Thr2809=)
c.3213A>T (p.Thr1071=)
c.9063A>T (p.Thr3021=)
c.8943A>T (p.Thr2981=)
c.8874A>T (p.Thr2958=)
c.7278A>T (p.Thr2426=)
n.9414A>T
6g.51748478T>CCA450613744PKHD1c.9138A>G (p.Thr3046=)
c.9009A>G (p.Thr3003=)
c.9000A>G (p.Thr3000=)
c.8496A>G (p.Thr2832=)
c.8427A>G (p.Thr2809=)
c.3213A>G (p.Thr1071=)
c.9063A>G (p.Thr3021=)
c.8943A>G (p.Thr2981=)
c.8874A>G (p.Thr2958=)
c.7278A>G (p.Thr2426=)
n.9414A>G
6g.51748478T>GCA450613746PKHD1c.9138A>C (p.Thr3046=)
c.9009A>C (p.Thr3003=)
c.9000A>C (p.Thr3000=)
c.8496A>C (p.Thr2832=)
c.8427A>C (p.Thr2809=)
c.3213A>C (p.Thr1071=)
c.9063A>C (p.Thr3021=)
c.8943A>C (p.Thr2981=)
c.8874A>C (p.Thr2958=)
c.7278A>C (p.Thr2426=)
n.9414A>C
6g.51748479G>ACA364423562PKHD1c.9137C>T (p.Thr3046Ile)
c.9008C>T (p.Thr3003Ile)
c.8999C>T (p.Thr3000Ile)
c.8495C>T (p.Thr2832Ile)
c.8426C>T (p.Thr2809Ile)
c.3212C>T (p.Thr1071Ile)
c.9062C>T (p.Thr3021Ile)
c.8942C>T (p.Thr2981Ile)
c.8873C>T (p.Thr2958Ile)
c.7277C>T (p.Thr2426Ile)
n.9413C>T
6g.51748479G>CCA364423564PKHD1c.9137C>G (p.Thr3046Arg)
c.9008C>G (p.Thr3003Arg)
c.8999C>G (p.Thr3000Arg)
c.8495C>G (p.Thr2832Arg)
c.8426C>G (p.Thr2809Arg)
c.3212C>G (p.Thr1071Arg)
c.9062C>G (p.Thr3021Arg)
c.8942C>G (p.Thr2981Arg)
c.8873C>G (p.Thr2958Arg)
c.7277C>G (p.Thr2426Arg)
n.9413C>G
6g.51748479G>TCA364423566PKHD1c.9137C>A (p.Thr3046Lys)
c.9008C>A (p.Thr3003Lys)
c.8999C>A (p.Thr3000Lys)
c.8495C>A (p.Thr2832Lys)
c.8426C>A (p.Thr2809Lys)
c.3212C>A (p.Thr1071Lys)
c.9062C>A (p.Thr3021Lys)
c.8942C>A (p.Thr2981Lys)
c.8873C>A (p.Thr2958Lys)
c.7277C>A (p.Thr2426Lys)
n.9413C>A
6g.51748480T>ACA364423575PKHD1c.9136A>T (p.Thr3046Ser)
c.9007A>T (p.Thr3003Ser)
c.8998A>T (p.Thr3000Ser)
c.8494A>T (p.Thr2832Ser)
c.8425A>T (p.Thr2809Ser)
c.3211A>T (p.Thr1071Ser)
c.9061A>T (p.Thr3021Ser)
c.8941A>T (p.Thr2981Ser)
c.8872A>T (p.Thr2958Ser)
c.7276A>T (p.Thr2426Ser)
n.9412A>T
6g.51748480T>CCA364423568PKHD1c.9136A>G (p.Thr3046Ala)
c.9007A>G (p.Thr3003Ala)
c.8998A>G (p.Thr3000Ala)
c.8494A>G (p.Thr2832Ala)
c.8425A>G (p.Thr2809Ala)
c.3211A>G (p.Thr1071Ala)
c.9061A>G (p.Thr3021Ala)
c.8941A>G (p.Thr2981Ala)
c.8872A>G (p.Thr2958Ala)
c.7276A>G (p.Thr2426Ala)
n.9412A>G
6g.51748480T>GCA364423573PKHD1c.9136A>C (p.Thr3046Pro)
c.9007A>C (p.Thr3003Pro)
c.8998A>C (p.Thr3000Pro)
c.8494A>C (p.Thr2832Pro)
c.8425A>C (p.Thr2809Pro)
c.3211A>C (p.Thr1071Pro)
c.9061A>C (p.Thr3021Pro)
c.8941A>C (p.Thr2981Pro)
c.8872A>C (p.Thr2958Pro)
c.7276A>C (p.Thr2426Pro)
n.9412A>C
6g.51748481G>ACA450613748PKHD1c.9135C>T (p.Gly3045=)
c.9006C>T (p.Gly3002=)
c.8997C>T (p.Gly2999=)
c.8493C>T (p.Gly2831=)
c.8424C>T (p.Gly2808=)
c.3210C>T (p.Gly1070=)
c.9060C>T (p.Gly3020=)
c.8940C>T (p.Gly2980=)
c.8871C>T (p.Gly2957=)
c.7275C>T (p.Gly2425=)
n.9411C>T
6g.51748481G>CCA450613749PKHD1c.9135C>G (p.Gly3045=)
c.9006C>G (p.Gly3002=)
c.8997C>G (p.Gly2999=)
c.8493C>G (p.Gly2831=)
c.8424C>G (p.Gly2808=)
c.3210C>G (p.Gly1070=)
c.9060C>G (p.Gly3020=)
c.8940C>G (p.Gly2980=)
c.8871C>G (p.Gly2957=)
c.7275C>G (p.Gly2425=)
n.9411C>G
6g.51748481G>TCA450613750PKHD1c.9135C>A (p.Gly3045=)
c.9006C>A (p.Gly3002=)
c.8997C>A (p.Gly2999=)
c.8493C>A (p.Gly2831=)
c.8424C>A (p.Gly2808=)
c.3210C>A (p.Gly1070=)
c.9060C>A (p.Gly3020=)
c.8940C>A (p.Gly2980=)
c.8871C>A (p.Gly2957=)
c.7275C>A (p.Gly2425=)
n.9411C>A
6g.51748482C>ACA364423579PKHD1c.9134G>T (p.Gly3045Val)
c.9005G>T (p.Gly3002Val)
c.8996G>T (p.Gly2999Val)
c.8492G>T (p.Gly2831Val)
c.8423G>T (p.Gly2808Val)
c.3209G>T (p.Gly1070Val)
c.9059G>T (p.Gly3020Val)
c.8939G>T (p.Gly2980Val)
c.8870G>T (p.Gly2957Val)
c.7274G>T (p.Gly2425Val)
n.9410G>T
6g.51748482C=CA1628503559PKHD1c.9134G= (p.Gly3045=)
c.9005G= (p.Gly3002=)
c.8996G= (p.Gly2999=)
c.8492G= (p.Gly2831=)
c.8423G= (p.Gly2808=)
c.3209G= (p.Gly1070=)
c.9059G= (p.Gly3020=)
c.8939G= (p.Gly2980=)
c.8870G= (p.Gly2957=)
c.7274G= (p.Gly2425=)
n.9410G=
6g.51748482C>GCA138896641PKHD1c.9134G>C (p.Gly3045Ala)
c.9005G>C (p.Gly3002Ala)
c.8996G>C (p.Gly2999Ala)
c.8492G>C (p.Gly2831Ala)
c.8423G>C (p.Gly2808Ala)
c.3209G>C (p.Gly1070Ala)
c.9059G>C (p.Gly3020Ala)
c.8939G>C (p.Gly2980Ala)
c.8870G>C (p.Gly2957Ala)
c.7274G>C (p.Gly2425Ala)
n.9410G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748482C>TCA364423584PKHD1c.9134G>A (p.Gly3045Asp)
c.9005G>A (p.Gly3002Asp)
c.8996G>A (p.Gly2999Asp)
c.8492G>A (p.Gly2831Asp)
c.8423G>A (p.Gly2808Asp)
c.3209G>A (p.Gly1070Asp)
c.9059G>A (p.Gly3020Asp)
c.8939G>A (p.Gly2980Asp)
c.8870G>A (p.Gly2957Asp)
c.7274G>A (p.Gly2425Asp)
n.9410G>A
 gnomAD v4 COSMIC COSMIC
6g.51748483C>ACA364423588PKHD1c.9133G>T (p.Gly3045Cys)
c.9004G>T (p.Gly3002Cys)
c.8995G>T (p.Gly2999Cys)
c.8491G>T (p.Gly2831Cys)
c.8422G>T (p.Gly2808Cys)
c.3208G>T (p.Gly1070Cys)
c.9058G>T (p.Gly3020Cys)
c.8938G>T (p.Gly2980Cys)
c.8869G>T (p.Gly2957Cys)
c.7273G>T (p.Gly2425Cys)
n.9409G>T
6g.51748483C>GCA364423593PKHD1c.9133G>C (p.Gly3045Arg)
c.9004G>C (p.Gly3002Arg)
c.8995G>C (p.Gly2999Arg)
c.8491G>C (p.Gly2831Arg)
c.8422G>C (p.Gly2808Arg)
c.3208G>C (p.Gly1070Arg)
c.9058G>C (p.Gly3020Arg)
c.8938G>C (p.Gly2980Arg)
c.8869G>C (p.Gly2957Arg)
c.7273G>C (p.Gly2425Arg)
n.9409G>C
6g.51748483C>TCA364423596PKHD1c.9133G>A (p.Gly3045Ser)
c.9004G>A (p.Gly3002Ser)
c.8995G>A (p.Gly2999Ser)
c.8491G>A (p.Gly2831Ser)
c.8422G>A (p.Gly2808Ser)
c.3208G>A (p.Gly1070Ser)
c.9058G>A (p.Gly3020Ser)
c.8938G>A (p.Gly2980Ser)
c.8869G>A (p.Gly2957Ser)
c.7273G>A (p.Gly2425Ser)
n.9409G>A
6g.51748484A>CCA364423598PKHD1c.9132T>G (p.Phe3044Leu)
c.9003T>G (p.Phe3001Leu)
c.8994T>G (p.Phe2998Leu)
c.8490T>G (p.Phe2830Leu)
c.8421T>G (p.Phe2807Leu)
c.3207T>G (p.Phe1069Leu)
c.9057T>G (p.Phe3019Leu)
c.8937T>G (p.Phe2979Leu)
c.8868T>G (p.Phe2956Leu)
c.7272T>G (p.Phe2424Leu)
n.9408T>G
6g.51748484A>GCA450613751PKHD1c.9132T>C (p.Phe3044=)
c.9003T>C (p.Phe3001=)
c.8994T>C (p.Phe2998=)
c.8490T>C (p.Phe2830=)
c.8421T>C (p.Phe2807=)
c.3207T>C (p.Phe1069=)
c.9057T>C (p.Phe3019=)
c.8937T>C (p.Phe2979=)
c.8868T>C (p.Phe2956=)
c.7272T>C (p.Phe2424=)
n.9408T>C

Number of alleles fetched