Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51747837C>ACA364420158PKHD1c.9779G>T (p.Trp3260Leu)
c.9650G>T (p.Trp3217Leu)
c.9641G>T (p.Trp3214Leu)
c.9137G>T (p.Trp3046Leu)
c.9068G>T (p.Trp3023Leu)
c.3854G>T (p.Trp1285Leu)
c.9704G>T (p.Trp3235Leu)
c.9584G>T (p.Trp3195Leu)
c.9515G>T (p.Trp3172Leu)
c.7919G>T (p.Trp2640Leu)
n.10055G>T
6g.51747837C>GCA364420156PKHD1c.9779G>C (p.Trp3260Ser)
c.9650G>C (p.Trp3217Ser)
c.9641G>C (p.Trp3214Ser)
c.9137G>C (p.Trp3046Ser)
c.9068G>C (p.Trp3023Ser)
c.3854G>C (p.Trp1285Ser)
c.9704G>C (p.Trp3235Ser)
c.9584G>C (p.Trp3195Ser)
c.9515G>C (p.Trp3172Ser)
c.7919G>C (p.Trp2640Ser)
n.10055G>C
6g.51747837C>TCA364420153PKHD1c.9779G>A (p.Trp3260Ter)
c.9650G>A (p.Trp3217Ter)
c.9641G>A (p.Trp3214Ter)
c.9137G>A (p.Trp3046Ter)
c.9068G>A (p.Trp3023Ter)
c.3854G>A (p.Trp1285Ter)
c.9704G>A (p.Trp3235Ter)
c.9584G>A (p.Trp3195Ter)
c.9515G>A (p.Trp3172Ter)
c.7919G>A (p.Trp2640Ter)
n.10055G>A
 ClinVar
6g.51747838A=CA1628501875PKHD1c.9778T= (p.Trp3260=)
c.9649T= (p.Trp3217=)
c.9640T= (p.Trp3214=)
c.9136T= (p.Trp3046=)
c.9067T= (p.Trp3023=)
c.3853T= (p.Trp1285=)
c.9703T= (p.Trp3235=)
c.9583T= (p.Trp3195=)
c.9514T= (p.Trp3172=)
c.7918T= (p.Trp2640=)
n.10054T=
6g.51747838A>CCA364420160PKHD1c.9778T>G (p.Trp3260Gly)
c.9649T>G (p.Trp3217Gly)
c.9640T>G (p.Trp3214Gly)
c.9136T>G (p.Trp3046Gly)
c.9067T>G (p.Trp3023Gly)
c.3853T>G (p.Trp1285Gly)
c.9703T>G (p.Trp3235Gly)
c.9583T>G (p.Trp3195Gly)
c.9514T>G (p.Trp3172Gly)
c.7918T>G (p.Trp2640Gly)
n.10054T>G
 dbSNP gnomAD v2
6g.51747838A>GCA364420163PKHD1c.9778T>C (p.Trp3260Arg)
c.9649T>C (p.Trp3217Arg)
c.9640T>C (p.Trp3214Arg)
c.9136T>C (p.Trp3046Arg)
c.9067T>C (p.Trp3023Arg)
c.3853T>C (p.Trp1285Arg)
c.9703T>C (p.Trp3235Arg)
c.9583T>C (p.Trp3195Arg)
c.9514T>C (p.Trp3172Arg)
c.7918T>C (p.Trp2640Arg)
n.10054T>C
 gnomAD v4
6g.51747838A>TCA364420164PKHD1c.9778T>A (p.Trp3260Arg)
c.9649T>A (p.Trp3217Arg)
c.9640T>A (p.Trp3214Arg)
c.9136T>A (p.Trp3046Arg)
c.9067T>A (p.Trp3023Arg)
c.3853T>A (p.Trp1285Arg)
c.9703T>A (p.Trp3235Arg)
c.9583T>A (p.Trp3195Arg)
c.9514T>A (p.Trp3172Arg)
c.7918T>A (p.Trp2640Arg)
n.10054T>A
6g.51747839T>ACA450613442PKHD1c.9777A>T (p.Pro3259=)
c.9648A>T (p.Pro3216=)
c.9639A>T (p.Pro3213=)
c.9135A>T (p.Pro3045=)
c.9066A>T (p.Pro3022=)
c.3852A>T (p.Pro1284=)
c.9702A>T (p.Pro3234=)
c.9582A>T (p.Pro3194=)
c.9513A>T (p.Pro3171=)
c.7917A>T (p.Pro2639=)
n.10053A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51747839T>CCA138895838PKHD1c.9777A>G (p.Pro3259=)
c.9648A>G (p.Pro3216=)
c.9639A>G (p.Pro3213=)
c.9135A>G (p.Pro3045=)
c.9066A>G (p.Pro3022=)
c.3852A>G (p.Pro1284=)
c.9702A>G (p.Pro3234=)
c.9582A>G (p.Pro3194=)
c.9513A>G (p.Pro3171=)
c.7917A>G (p.Pro2639=)
n.10053A>G
 ClinVar dbSNP gnomAD v4
6g.51747839T>GCA450613443PKHD1c.9777A>C (p.Pro3259=)
c.9648A>C (p.Pro3216=)
c.9639A>C (p.Pro3213=)
c.9135A>C (p.Pro3045=)
c.9066A>C (p.Pro3022=)
c.3852A>C (p.Pro1284=)
c.9702A>C (p.Pro3234=)
c.9582A>C (p.Pro3194=)
c.9513A>C (p.Pro3171=)
c.7917A>C (p.Pro2639=)
n.10053A>C
6g.51747839T=CA1628501879PKHD1c.9777A= (p.Pro3259=)
c.9648A= (p.Pro3216=)
c.9639A= (p.Pro3213=)
c.9135A= (p.Pro3045=)
c.9066A= (p.Pro3022=)
c.3852A= (p.Pro1284=)
c.9702A= (p.Pro3234=)
c.9582A= (p.Pro3194=)
c.9513A= (p.Pro3171=)
c.7917A= (p.Pro2639=)
n.10053A=
6g.51747840G>ACA364420168PKHD1c.9776C>T (p.Pro3259Leu)
c.9647C>T (p.Pro3216Leu)
c.9638C>T (p.Pro3213Leu)
c.9134C>T (p.Pro3045Leu)
c.9065C>T (p.Pro3022Leu)
c.3851C>T (p.Pro1284Leu)
c.9701C>T (p.Pro3234Leu)
c.9581C>T (p.Pro3194Leu)
c.9512C>T (p.Pro3171Leu)
c.7916C>T (p.Pro2639Leu)
n.10052C>T
 gnomAD v4
6g.51747840G>CCA364420169PKHD1c.9776C>G (p.Pro3259Arg)
c.9647C>G (p.Pro3216Arg)
c.9638C>G (p.Pro3213Arg)
c.9134C>G (p.Pro3045Arg)
c.9065C>G (p.Pro3022Arg)
c.3851C>G (p.Pro1284Arg)
c.9701C>G (p.Pro3234Arg)
c.9581C>G (p.Pro3194Arg)
c.9512C>G (p.Pro3171Arg)
c.7916C>G (p.Pro2639Arg)
n.10052C>G
6g.51747840G>TCA364420171PKHD1c.9776C>A (p.Pro3259Gln)
c.9647C>A (p.Pro3216Gln)
c.9638C>A (p.Pro3213Gln)
c.9134C>A (p.Pro3045Gln)
c.9065C>A (p.Pro3022Gln)
c.3851C>A (p.Pro1284Gln)
c.9701C>A (p.Pro3234Gln)
c.9581C>A (p.Pro3194Gln)
c.9512C>A (p.Pro3171Gln)
c.7916C>A (p.Pro2639Gln)
n.10052C>A
6g.51747841G>ACA364420177PKHD1c.9775C>T (p.Pro3259Ser)
c.9646C>T (p.Pro3216Ser)
c.9637C>T (p.Pro3213Ser)
c.9133C>T (p.Pro3045Ser)
c.9064C>T (p.Pro3022Ser)
c.3850C>T (p.Pro1284Ser)
c.9700C>T (p.Pro3234Ser)
c.9580C>T (p.Pro3194Ser)
c.9511C>T (p.Pro3171Ser)
c.7915C>T (p.Pro2639Ser)
n.10051C>T
 dbSNP gnomAD v4
6g.51747841G>CCA364420174PKHD1c.9775C>G (p.Pro3259Ala)
c.9646C>G (p.Pro3216Ala)
c.9637C>G (p.Pro3213Ala)
c.9133C>G (p.Pro3045Ala)
c.9064C>G (p.Pro3022Ala)
c.3850C>G (p.Pro1284Ala)
c.9700C>G (p.Pro3234Ala)
c.9580C>G (p.Pro3194Ala)
c.9511C>G (p.Pro3171Ala)
c.7915C>G (p.Pro2639Ala)
n.10051C>G
6g.51747841G=CA1628501883PKHD1c.9775C= (p.Pro3259=)
c.9646C= (p.Pro3216=)
c.9637C= (p.Pro3213=)
c.9133C= (p.Pro3045=)
c.9064C= (p.Pro3022=)
c.3850C= (p.Pro1284=)
c.9700C= (p.Pro3234=)
c.9580C= (p.Pro3194=)
c.9511C= (p.Pro3171=)
c.7915C= (p.Pro2639=)
n.10051C=
6g.51747841G>TCA364420175PKHD1c.9775C>A (p.Pro3259Thr)
c.9646C>A (p.Pro3216Thr)
c.9637C>A (p.Pro3213Thr)
c.9133C>A (p.Pro3045Thr)
c.9064C>A (p.Pro3022Thr)
c.3850C>A (p.Pro1284Thr)
c.9700C>A (p.Pro3234Thr)
c.9580C>A (p.Pro3194Thr)
c.9511C>A (p.Pro3171Thr)
c.7915C>A (p.Pro2639Thr)
n.10051C>A
6g.51747842C>ACA364420180PKHD1c.9774G>T (p.Glu3258Asp)
c.9645G>T (p.Glu3215Asp)
c.9636G>T (p.Glu3212Asp)
c.9132G>T (p.Glu3044Asp)
c.9063G>T (p.Glu3021Asp)
c.3849G>T (p.Glu1283Asp)
c.9699G>T (p.Glu3233Asp)
c.9579G>T (p.Glu3193Asp)
c.9510G>T (p.Glu3170Asp)
c.7914G>T (p.Glu2638Asp)
n.10050G>T
6g.51747842C>GCA364420181PKHD1c.9774G>C (p.Glu3258Asp)
c.9645G>C (p.Glu3215Asp)
c.9636G>C (p.Glu3212Asp)
c.9132G>C (p.Glu3044Asp)
c.9063G>C (p.Glu3021Asp)
c.3849G>C (p.Glu1283Asp)
c.9699G>C (p.Glu3233Asp)
c.9579G>C (p.Glu3193Asp)
c.9510G>C (p.Glu3170Asp)
c.7914G>C (p.Glu2638Asp)
n.10050G>C
6g.51747842C>TCA450613447PKHD1c.9774G>A (p.Glu3258=)
c.9645G>A (p.Glu3215=)
c.9636G>A (p.Glu3212=)
c.9132G>A (p.Glu3044=)
c.9063G>A (p.Glu3021=)
c.3849G>A (p.Glu1283=)
c.9699G>A (p.Glu3233=)
c.9579G>A (p.Glu3193=)
c.9510G>A (p.Glu3170=)
c.7914G>A (p.Glu2638=)
n.10050G>A
 ClinVar gnomAD v4
6g.51747843T>ACA364420184PKHD1c.9773A>T (p.Glu3258Val)
c.9644A>T (p.Glu3215Val)
c.9635A>T (p.Glu3212Val)
c.9131A>T (p.Glu3044Val)
c.9062A>T (p.Glu3021Val)
c.3848A>T (p.Glu1283Val)
c.9698A>T (p.Glu3233Val)
c.9578A>T (p.Glu3193Val)
c.9509A>T (p.Glu3170Val)
c.7913A>T (p.Glu2638Val)
n.10049A>T
6g.51747843T>CCA364420186PKHD1c.9773A>G (p.Glu3258Gly)
c.9644A>G (p.Glu3215Gly)
c.9635A>G (p.Glu3212Gly)
c.9131A>G (p.Glu3044Gly)
c.9062A>G (p.Glu3021Gly)
c.3848A>G (p.Glu1283Gly)
c.9698A>G (p.Glu3233Gly)
c.9578A>G (p.Glu3193Gly)
c.9509A>G (p.Glu3170Gly)
c.7913A>G (p.Glu2638Gly)
n.10049A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747843T>GCA364420188PKHD1c.9773A>C (p.Glu3258Ala)
c.9644A>C (p.Glu3215Ala)
c.9635A>C (p.Glu3212Ala)
c.9131A>C (p.Glu3044Ala)
c.9062A>C (p.Glu3021Ala)
c.3848A>C (p.Glu1283Ala)
c.9698A>C (p.Glu3233Ala)
c.9578A>C (p.Glu3193Ala)
c.9509A>C (p.Glu3170Ala)
c.7913A>C (p.Glu2638Ala)
n.10049A>C
6g.51747843T=CA1628501887PKHD1c.9773A= (p.Glu3258=)
c.9644A= (p.Glu3215=)
c.9635A= (p.Glu3212=)
c.9131A= (p.Glu3044=)
c.9062A= (p.Glu3021=)
c.3848A= (p.Glu1283=)
c.9698A= (p.Glu3233=)
c.9578A= (p.Glu3193=)
c.9509A= (p.Glu3170=)
c.7913A= (p.Glu2638=)
n.10049A=
6g.51747844C>ACA364420195PKHD1c.9772G>T (p.Glu3258Ter)
c.9643G>T (p.Glu3215Ter)
c.9634G>T (p.Glu3212Ter)
c.9130G>T (p.Glu3044Ter)
c.9061G>T (p.Glu3021Ter)
c.3847G>T (p.Glu1283Ter)
c.9697G>T (p.Glu3233Ter)
c.9577G>T (p.Glu3193Ter)
c.9508G>T (p.Glu3170Ter)
c.7912G>T (p.Glu2638Ter)
n.10048G>T
6g.51747844C>GCA364420191PKHD1c.9772G>C (p.Glu3258Gln)
c.9643G>C (p.Glu3215Gln)
c.9634G>C (p.Glu3212Gln)
c.9130G>C (p.Glu3044Gln)
c.9061G>C (p.Glu3021Gln)
c.3847G>C (p.Glu1283Gln)
c.9697G>C (p.Glu3233Gln)
c.9577G>C (p.Glu3193Gln)
c.9508G>C (p.Glu3170Gln)
c.7912G>C (p.Glu2638Gln)
n.10048G>C
 gnomAD v4
6g.51747844C>TCA364420193PKHD1c.9772G>A (p.Glu3258Lys)
c.9643G>A (p.Glu3215Lys)
c.9634G>A (p.Glu3212Lys)
c.9130G>A (p.Glu3044Lys)
c.9061G>A (p.Glu3021Lys)
c.3847G>A (p.Glu1283Lys)
c.9697G>A (p.Glu3233Lys)
c.9577G>A (p.Glu3193Lys)
c.9508G>A (p.Glu3170Lys)
c.7912G>A (p.Glu2638Lys)
n.10048G>A
 gnomAD v4
6g.51747844_51747845insTCA138895840PKHD1c.9771_9772insA (p.Glu3258ArgfsTer9)
c.9642_9643insA (p.Glu3215ArgfsTer9)
c.9633_9634insA (p.Glu3212ArgfsTer9)
c.9129_9130insA (p.Glu3044ArgfsTer9)
c.9060_9061insA (p.Glu3021ArgfsTer9)
c.3846_3847insA (p.Glu1283ArgfsTer9)
c.9696_9697insA (p.Glu3233ArgfsTer9)
c.9576_9577insA (p.Glu3193ArgfsTer9)
c.9507_9508insA (p.Glu3170ArgfsTer9)
c.7911_7912insA (p.Glu2638ArgfsTer9)
n.10047_10048insA
6g.51747845C>ACA364420199PKHD1c.9771G>T (p.Gln3257His)
c.9642G>T (p.Gln3214His)
c.9633G>T (p.Gln3211His)
c.9129G>T (p.Gln3043His)
c.9060G>T (p.Gln3020His)
c.3846G>T (p.Gln1282His)
c.9696G>T (p.Gln3232His)
c.9576G>T (p.Gln3192His)
c.9507G>T (p.Gln3169His)
c.7911G>T (p.Gln2637His)
n.10047G>T
6g.51747845C=CA1628501893PKHD1c.9771G= (p.Gln3257=)
c.9642G= (p.Gln3214=)
c.9633G= (p.Gln3211=)
c.9129G= (p.Gln3043=)
c.9060G= (p.Gln3020=)
c.3846G= (p.Gln1282=)
c.9696G= (p.Gln3232=)
c.9576G= (p.Gln3192=)
c.9507G= (p.Gln3169=)
c.7911G= (p.Gln2637=)
n.10047G=
6g.51747845C>GCA364420204PKHD1c.9771G>C (p.Gln3257His)
c.9642G>C (p.Gln3214His)
c.9633G>C (p.Gln3211His)
c.9129G>C (p.Gln3043His)
c.9060G>C (p.Gln3020His)
c.3846G>C (p.Gln1282His)
c.9696G>C (p.Gln3232His)
c.9576G>C (p.Gln3192His)
c.9507G>C (p.Gln3169His)
c.7911G>C (p.Gln2637His)
n.10047G>C
6g.51747845C>TCA450613452PKHD1c.9771G>A (p.Gln3257=)
c.9642G>A (p.Gln3214=)
c.9633G>A (p.Gln3211=)
c.9129G>A (p.Gln3043=)
c.9060G>A (p.Gln3020=)
c.3846G>A (p.Gln1282=)
c.9696G>A (p.Gln3232=)
c.9576G>A (p.Gln3192=)
c.9507G>A (p.Gln3169=)
c.7911G>A (p.Gln2637=)
n.10047G>A
6g.51747846T>ACA364420207PKHD1c.9770A>T (p.Gln3257Leu)
c.9641A>T (p.Gln3214Leu)
c.9632A>T (p.Gln3211Leu)
c.9128A>T (p.Gln3043Leu)
c.9059A>T (p.Gln3020Leu)
c.3845A>T (p.Gln1282Leu)
c.9695A>T (p.Gln3232Leu)
c.9575A>T (p.Gln3192Leu)
c.9506A>T (p.Gln3169Leu)
c.7910A>T (p.Gln2637Leu)
n.10046A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747846T>CCA364420210PKHD1c.9770A>G (p.Gln3257Arg)
c.9641A>G (p.Gln3214Arg)
c.9632A>G (p.Gln3211Arg)
c.9128A>G (p.Gln3043Arg)
c.9059A>G (p.Gln3020Arg)
c.3845A>G (p.Gln1282Arg)
c.9695A>G (p.Gln3232Arg)
c.9575A>G (p.Gln3192Arg)
c.9506A>G (p.Gln3169Arg)
c.7910A>G (p.Gln2637Arg)
n.10046A>G
6g.51747846T>GCA364420212PKHD1c.9770A>C (p.Gln3257Pro)
c.9641A>C (p.Gln3214Pro)
c.9632A>C (p.Gln3211Pro)
c.9128A>C (p.Gln3043Pro)
c.9059A>C (p.Gln3020Pro)
c.3845A>C (p.Gln1282Pro)
c.9695A>C (p.Gln3232Pro)
c.9575A>C (p.Gln3192Pro)
c.9506A>C (p.Gln3169Pro)
c.7910A>C (p.Gln2637Pro)
n.10046A>C
6g.51747846T=CA1628501899PKHD1c.9770A= (p.Gln3257=)
c.9641A= (p.Gln3214=)
c.9632A= (p.Gln3211=)
c.9128A= (p.Gln3043=)
c.9059A= (p.Gln3020=)
c.3845A= (p.Gln1282=)
c.9695A= (p.Gln3232=)
c.9575A= (p.Gln3192=)
c.9506A= (p.Gln3169=)
c.7910A= (p.Gln2637=)
n.10046A=
6g.51747846dupCA3851340PKHD1c.9770dup (p.Glu3258GlyfsTer9)
c.9641dup (p.Glu3215GlyfsTer9)
c.9632dup (p.Glu3212GlyfsTer9)
c.9128dup (p.Glu3044GlyfsTer9)
c.9059dup (p.Glu3021GlyfsTer9)
c.3845dup (p.Glu1283GlyfsTer9)
c.9695dup (p.Glu3233GlyfsTer9)
c.9575dup (p.Glu3193GlyfsTer9)
c.9506dup (p.Glu3170GlyfsTer9)
c.7910dup (p.Glu2638GlyfsTer9)
n.10046dup
 dbSNP ExAC gnomAD v2
6g.51747847G>ACA364420216PKHD1c.9769C>T (p.Gln3257Ter)
c.9640C>T (p.Gln3214Ter)
c.9631C>T (p.Gln3211Ter)
c.9127C>T (p.Gln3043Ter)
c.9058C>T (p.Gln3020Ter)
c.3844C>T (p.Gln1282Ter)
c.9694C>T (p.Gln3232Ter)
c.9574C>T (p.Gln3192Ter)
c.9505C>T (p.Gln3169Ter)
c.7909C>T (p.Gln2637Ter)
n.10045C>T
 gnomAD v4
6g.51747847G>CCA364420218PKHD1c.9769C>G (p.Gln3257Glu)
c.9640C>G (p.Gln3214Glu)
c.9631C>G (p.Gln3211Glu)
c.9127C>G (p.Gln3043Glu)
c.9058C>G (p.Gln3020Glu)
c.3844C>G (p.Gln1282Glu)
c.9694C>G (p.Gln3232Glu)
c.9574C>G (p.Gln3192Glu)
c.9505C>G (p.Gln3169Glu)
c.7909C>G (p.Gln2637Glu)
n.10045C>G
6g.51747847G>TCA364420219PKHD1c.9769C>A (p.Gln3257Lys)
c.9640C>A (p.Gln3214Lys)
c.9631C>A (p.Gln3211Lys)
c.9127C>A (p.Gln3043Lys)
c.9058C>A (p.Gln3020Lys)
c.3844C>A (p.Gln1282Lys)
c.9694C>A (p.Gln3232Lys)
c.9574C>A (p.Gln3192Lys)
c.9505C>A (p.Gln3169Lys)
c.7909C>A (p.Gln2637Lys)
n.10045C>A
6g.51747848A>CCA450613456PKHD1c.9768T>G (p.Pro3256=)
c.9639T>G (p.Pro3213=)
c.9630T>G (p.Pro3210=)
c.9126T>G (p.Pro3042=)
c.9057T>G (p.Pro3019=)
c.3843T>G (p.Pro1281=)
c.9693T>G (p.Pro3231=)
c.9573T>G (p.Pro3191=)
c.9504T>G (p.Pro3168=)
c.7908T>G (p.Pro2636=)
n.10044T>G
6g.51747848A>GCA450613457PKHD1c.9768T>C (p.Pro3256=)
c.9639T>C (p.Pro3213=)
c.9630T>C (p.Pro3210=)
c.9126T>C (p.Pro3042=)
c.9057T>C (p.Pro3019=)
c.3843T>C (p.Pro1281=)
c.9693T>C (p.Pro3231=)
c.9573T>C (p.Pro3191=)
c.9504T>C (p.Pro3168=)
c.7908T>C (p.Pro2636=)
n.10044T>C
6g.51747848A>TCA450613458PKHD1c.9768T>A (p.Pro3256=)
c.9639T>A (p.Pro3213=)
c.9630T>A (p.Pro3210=)
c.9126T>A (p.Pro3042=)
c.9057T>A (p.Pro3019=)
c.3843T>A (p.Pro1281=)
c.9693T>A (p.Pro3231=)
c.9573T>A (p.Pro3191=)
c.9504T>A (p.Pro3168=)
c.7908T>A (p.Pro2636=)
n.10044T>A
6g.51747849G>ACA3851341PKHD1c.9767C>T (p.Pro3256Leu)
c.9638C>T (p.Pro3213Leu)
c.9629C>T (p.Pro3210Leu)
c.9125C>T (p.Pro3042Leu)
c.9056C>T (p.Pro3019Leu)
c.3842C>T (p.Pro1281Leu)
c.9692C>T (p.Pro3231Leu)
c.9572C>T (p.Pro3191Leu)
c.9503C>T (p.Pro3168Leu)
c.7907C>T (p.Pro2636Leu)
n.10043C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747849G>CCA364420222PKHD1c.9767C>G (p.Pro3256Arg)
c.9638C>G (p.Pro3213Arg)
c.9629C>G (p.Pro3210Arg)
c.9125C>G (p.Pro3042Arg)
c.9056C>G (p.Pro3019Arg)
c.3842C>G (p.Pro1281Arg)
c.9692C>G (p.Pro3231Arg)
c.9572C>G (p.Pro3191Arg)
c.9503C>G (p.Pro3168Arg)
c.7907C>G (p.Pro2636Arg)
n.10043C>G
6g.51747849G=CA1628501904PKHD1c.9767C= (p.Pro3256=)
c.9638C= (p.Pro3213=)
c.9629C= (p.Pro3210=)
c.9125C= (p.Pro3042=)
c.9056C= (p.Pro3019=)
c.3842C= (p.Pro1281=)
c.9692C= (p.Pro3231=)
c.9572C= (p.Pro3191=)
c.9503C= (p.Pro3168=)
c.7907C= (p.Pro2636=)
n.10043C=
6g.51747849G>TCA364420223PKHD1c.9767C>A (p.Pro3256His)
c.9638C>A (p.Pro3213His)
c.9629C>A (p.Pro3210His)
c.9125C>A (p.Pro3042His)
c.9056C>A (p.Pro3019His)
c.3842C>A (p.Pro1281His)
c.9692C>A (p.Pro3231His)
c.9572C>A (p.Pro3191His)
c.9503C>A (p.Pro3168His)
c.7907C>A (p.Pro2636His)
n.10043C>A
 gnomAD v4
6g.51747850G>ACA364420226PKHD1c.9766C>T (p.Pro3256Ser)
c.9637C>T (p.Pro3213Ser)
c.9628C>T (p.Pro3210Ser)
c.9124C>T (p.Pro3042Ser)
c.9055C>T (p.Pro3019Ser)
c.3841C>T (p.Pro1281Ser)
c.9691C>T (p.Pro3231Ser)
c.9571C>T (p.Pro3191Ser)
c.9502C>T (p.Pro3168Ser)
c.7906C>T (p.Pro2636Ser)
n.10042C>T
 gnomAD v4
6g.51747850G>CCA364420229PKHD1c.9766C>G (p.Pro3256Ala)
c.9637C>G (p.Pro3213Ala)
c.9628C>G (p.Pro3210Ala)
c.9124C>G (p.Pro3042Ala)
c.9055C>G (p.Pro3019Ala)
c.3841C>G (p.Pro1281Ala)
c.9691C>G (p.Pro3231Ala)
c.9571C>G (p.Pro3191Ala)
c.9502C>G (p.Pro3168Ala)
c.7906C>G (p.Pro2636Ala)
n.10042C>G

Number of alleles fetched