Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51659058C>A | CA364430219 | PKHD1 | c.11068G>T (p.Ala3690Ser) c.10939G>T (p.Ala3647Ser) c.10930G>T (p.Ala3644Ser) c.10426G>T (p.Ala3476Ser) c.10357G>T (p.Ala3453Ser) c.10157-9838G>T (n.10157-9838G>T) c.5143G>T (p.Ala1715Ser) n.535+6685C>A n.403+6685C>A c.10993G>T (p.Ala3665Ser) c.10873G>T (p.Ala3625Ser) c.10804G>T (p.Ala3602Ser) c.9208G>T (p.Ala3070Ser) n.11344G>T n.3145+6685C>A n.3013+6685C>A | ClinVar |
6 | g.51659058C>G | CA364430221 | PKHD1 | c.11068G>C (p.Ala3690Pro) c.10939G>C (p.Ala3647Pro) c.10930G>C (p.Ala3644Pro) c.10426G>C (p.Ala3476Pro) c.10357G>C (p.Ala3453Pro) c.10157-9838G>C (n.10157-9838G>C) c.5143G>C (p.Ala1715Pro) n.535+6685C>G n.403+6685C>G c.10993G>C (p.Ala3665Pro) c.10873G>C (p.Ala3625Pro) c.10804G>C (p.Ala3602Pro) c.9208G>C (p.Ala3070Pro) n.11344G>C n.3145+6685C>G n.3013+6685C>G | |
6 | g.51659058C>T | CA364430223 | PKHD1 | c.11068G>A (p.Ala3690Thr) c.10939G>A (p.Ala3647Thr) c.10930G>A (p.Ala3644Thr) c.10426G>A (p.Ala3476Thr) c.10357G>A (p.Ala3453Thr) c.10157-9838G>A (n.10157-9838G>A) c.5143G>A (p.Ala1715Thr) n.535+6685C>T n.403+6685C>T c.10993G>A (p.Ala3665Thr) c.10873G>A (p.Ala3625Thr) c.10804G>A (p.Ala3602Thr) c.9208G>A (p.Ala3070Thr) n.11344G>A n.3145+6685C>T n.3013+6685C>T | |
6 | g.51659059del | CA2578644499 | PKHD1 | c.11068del (p.Ala3690LeufsTer13) c.10939del (p.Ala3647LeufsTer13) c.10930del (p.Ala3644LeufsTer13) c.10426del (p.Ala3476LeufsTer13) c.10357del (p.Ala3453LeufsTer13) c.10157-9838del (n.10157-9838del) c.5143del (p.Ala1715LeufsTer13) n.535+6686del n.403+6686del c.10993del (p.Ala3665LeufsTer13) c.10873del (p.Ala3625LeufsTer13) c.10804del (p.Ala3602LeufsTer13) c.9208del (p.Ala3070LeufsTer13) n.11344del n.3145+6686del n.3013+6686del | gnomAD v4 |
6 | g.51659059C>A | CA364430226 | PKHD1 | c.11067G>T (p.Leu3689Phe) c.10938G>T (p.Leu3646Phe) c.10929G>T (p.Leu3643Phe) c.10425G>T (p.Leu3475Phe) c.10356G>T (p.Leu3452Phe) c.10157-9839G>T (n.10157-9839G>T) c.5142G>T (p.Leu1714Phe) n.535+6686C>A n.403+6686C>A c.10992G>T (p.Leu3664Phe) c.10872G>T (p.Leu3624Phe) c.10803G>T (p.Leu3601Phe) c.9207G>T (p.Leu3069Phe) n.11343G>T n.3145+6686C>A n.3013+6686C>A | |
6 | g.51659059C= | CA1628438339 | PKHD1 | c.11067G= (p.Leu3689=) c.10938G= (p.Leu3646=) c.10929G= (p.Leu3643=) c.10425G= (p.Leu3475=) c.10356G= (p.Leu3452=) c.10157-9839G= (n.10157-9839G=) c.5142G= (p.Leu1714=) n.535+6686C= n.403+6686C= c.10992G= (p.Leu3664=) c.10872G= (p.Leu3624=) c.10803G= (p.Leu3601=) c.9207G= (p.Leu3069=) n.11343G= n.3145+6686C= n.3013+6686C= | |
6 | g.51659059C>G | CA364430231 | PKHD1 | c.11067G>C (p.Leu3689Phe) c.10938G>C (p.Leu3646Phe) c.10929G>C (p.Leu3643Phe) c.10425G>C (p.Leu3475Phe) c.10356G>C (p.Leu3452Phe) c.10157-9839G>C (n.10157-9839G>C) c.5142G>C (p.Leu1714Phe) n.535+6686C>G n.403+6686C>G c.10992G>C (p.Leu3664Phe) c.10872G>C (p.Leu3624Phe) c.10803G>C (p.Leu3601Phe) c.9207G>C (p.Leu3069Phe) n.11343G>C n.3145+6686C>G n.3013+6686C>G | |
6 | g.51659059C>T | CA3850966 | PKHD1 | c.11067G>A (p.Leu3689=) c.10938G>A (p.Leu3646=) c.10929G>A (p.Leu3643=) c.10425G>A (p.Leu3475=) c.10356G>A (p.Leu3452=) c.10157-9839G>A (n.10157-9839G>A) c.5142G>A (p.Leu1714=) n.535+6686C>T n.403+6686C>T c.10992G>A (p.Leu3664=) c.10872G>A (p.Leu3624=) c.10803G>A (p.Leu3601=) c.9207G>A (p.Leu3069=) n.11343G>A n.3145+6686C>T n.3013+6686C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659060A>C | CA364430234 | PKHD1 | c.11066T>G (p.Leu3689Trp) c.10937T>G (p.Leu3646Trp) c.10928T>G (p.Leu3643Trp) c.10424T>G (p.Leu3475Trp) c.10355T>G (p.Leu3452Trp) c.10157-9840T>G (n.10157-9840T>G) c.5141T>G (p.Leu1714Trp) n.535+6687A>C n.403+6687A>C c.10991T>G (p.Leu3664Trp) c.10871T>G (p.Leu3624Trp) c.10802T>G (p.Leu3601Trp) c.9206T>G (p.Leu3069Trp) n.11342T>G n.3145+6687A>C n.3013+6687A>C | |
6 | g.51659060A>G | CA364430240 | PKHD1 | c.11066T>C (p.Leu3689Ser) c.10937T>C (p.Leu3646Ser) c.10928T>C (p.Leu3643Ser) c.10424T>C (p.Leu3475Ser) c.10355T>C (p.Leu3452Ser) c.10157-9840T>C (n.10157-9840T>C) c.5141T>C (p.Leu1714Ser) n.535+6687A>G n.403+6687A>G c.10991T>C (p.Leu3664Ser) c.10871T>C (p.Leu3624Ser) c.10802T>C (p.Leu3601Ser) c.9206T>C (p.Leu3069Ser) n.11342T>C n.3145+6687A>G n.3013+6687A>G | |
6 | g.51659060A>T | CA364430238 | PKHD1 | c.11066T>A (p.Leu3689Ter) c.10937T>A (p.Leu3646Ter) c.10928T>A (p.Leu3643Ter) c.10424T>A (p.Leu3475Ter) c.10355T>A (p.Leu3452Ter) c.10157-9840T>A (n.10157-9840T>A) c.5141T>A (p.Leu1714Ter) n.535+6687A>T n.403+6687A>T c.10991T>A (p.Leu3664Ter) c.10871T>A (p.Leu3624Ter) c.10802T>A (p.Leu3601Ter) c.9206T>A (p.Leu3069Ter) n.11342T>A n.3145+6687A>T n.3013+6687A>T | COSMIC |
6 | g.51659062del | CA2771047561 | PKHD1 | c.11066del (p.Leu3689TrpfsTer14) c.10937del (p.Leu3646TrpfsTer14) c.10928del (p.Leu3643TrpfsTer14) c.10424del (p.Leu3475TrpfsTer14) c.10355del (p.Leu3452TrpfsTer14) c.10157-9840del (n.10157-9840del) c.5141del (p.Leu1714TrpfsTer14) n.535+6689del n.403+6689del c.10991del (p.Leu3664TrpfsTer14) c.10871del (p.Leu3624TrpfsTer14) c.10802del (p.Leu3601TrpfsTer14) c.9206del (p.Leu3069TrpfsTer14) n.11342del n.3145+6689del n.3013+6689del | |
6 | g.51659061A>C | CA364430242 | PKHD1 | c.11065T>G (p.Leu3689Val) c.10936T>G (p.Leu3646Val) c.10927T>G (p.Leu3643Val) c.10423T>G (p.Leu3475Val) c.10354T>G (p.Leu3452Val) c.10157-9841T>G (n.10157-9841T>G) c.5140T>G (p.Leu1714Val) n.535+6688A>C n.403+6688A>C c.10990T>G (p.Leu3664Val) c.10870T>G (p.Leu3624Val) c.10801T>G (p.Leu3601Val) c.9205T>G (p.Leu3069Val) n.11341T>G n.3145+6688A>C n.3013+6688A>C | gnomAD v4 |
6 | g.51659061A>G | CA450612674 | PKHD1 | c.11065T>C (p.Leu3689=) c.10936T>C (p.Leu3646=) c.10927T>C (p.Leu3643=) c.10423T>C (p.Leu3475=) c.10354T>C (p.Leu3452=) c.10157-9841T>C (n.10157-9841T>C) c.5140T>C (p.Leu1714=) n.535+6688A>G n.403+6688A>G c.10990T>C (p.Leu3664=) c.10870T>C (p.Leu3624=) c.10801T>C (p.Leu3601=) c.9205T>C (p.Leu3069=) n.11341T>C n.3145+6688A>G n.3013+6688A>G | |
6 | g.51659061A>T | CA364430244 | PKHD1 | c.11065T>A (p.Leu3689Met) c.10936T>A (p.Leu3646Met) c.10927T>A (p.Leu3643Met) c.10423T>A (p.Leu3475Met) c.10354T>A (p.Leu3452Met) c.10157-9841T>A (n.10157-9841T>A) c.5140T>A (p.Leu1714Met) n.535+6688A>T n.403+6688A>T c.10990T>A (p.Leu3664Met) c.10870T>A (p.Leu3624Met) c.10801T>A (p.Leu3601Met) c.9205T>A (p.Leu3069Met) n.11341T>A n.3145+6688A>T n.3013+6688A>T | |
6 | g.51659062A>C | CA364430248 | PKHD1 | c.11064T>G (p.Asn3688Lys) c.10935T>G (p.Asn3645Lys) c.10926T>G (p.Asn3642Lys) c.10422T>G (p.Asn3474Lys) c.10353T>G (p.Asn3451Lys) c.10157-9842T>G (n.10157-9842T>G) c.5139T>G (p.Asn1713Lys) n.535+6689A>C n.403+6689A>C c.10989T>G (p.Asn3663Lys) c.10869T>G (p.Asn3623Lys) c.10800T>G (p.Asn3600Lys) c.9204T>G (p.Asn3068Lys) n.11340T>G n.3145+6689A>C n.3013+6689A>C | |
6 | g.51659062A>G | CA450612675 | PKHD1 | c.11064T>C (p.Asn3688=) c.10935T>C (p.Asn3645=) c.10926T>C (p.Asn3642=) c.10422T>C (p.Asn3474=) c.10353T>C (p.Asn3451=) c.10157-9842T>C (n.10157-9842T>C) c.5139T>C (p.Asn1713=) n.535+6689A>G n.403+6689A>G c.10989T>C (p.Asn3663=) c.10869T>C (p.Asn3623=) c.10800T>C (p.Asn3600=) c.9204T>C (p.Asn3068=) n.11340T>C n.3145+6689A>G n.3013+6689A>G | gnomAD v4 |
6 | g.51659062A>T | CA364430250 | PKHD1 | c.11064T>A (p.Asn3688Lys) c.10935T>A (p.Asn3645Lys) c.10926T>A (p.Asn3642Lys) c.10422T>A (p.Asn3474Lys) c.10353T>A (p.Asn3451Lys) c.10157-9842T>A (n.10157-9842T>A) c.5139T>A (p.Asn1713Lys) n.535+6689A>T n.403+6689A>T c.10989T>A (p.Asn3663Lys) c.10869T>A (p.Asn3623Lys) c.10800T>A (p.Asn3600Lys) c.9204T>A (p.Asn3068Lys) n.11340T>A n.3145+6689A>T n.3013+6689A>T | |
6 | g.51659063T>A | CA364430252 | PKHD1 | c.11063A>T (p.Asn3688Ile) c.10934A>T (p.Asn3645Ile) c.10925A>T (p.Asn3642Ile) c.10421A>T (p.Asn3474Ile) c.10352A>T (p.Asn3451Ile) c.10157-9843A>T (n.10157-9843A>T) c.5138A>T (p.Asn1713Ile) n.535+6690T>A n.403+6690T>A c.10988A>T (p.Asn3663Ile) c.10868A>T (p.Asn3623Ile) c.10799A>T (p.Asn3600Ile) c.9203A>T (p.Asn3068Ile) n.11339A>T n.3145+6690T>A n.3013+6690T>A | |
6 | g.51659063T>C | CA364430255 | PKHD1 | c.11063A>G (p.Asn3688Ser) c.10934A>G (p.Asn3645Ser) c.10925A>G (p.Asn3642Ser) c.10421A>G (p.Asn3474Ser) c.10352A>G (p.Asn3451Ser) c.10157-9843A>G (n.10157-9843A>G) c.5138A>G (p.Asn1713Ser) n.535+6690T>C n.403+6690T>C c.10988A>G (p.Asn3663Ser) c.10868A>G (p.Asn3623Ser) c.10799A>G (p.Asn3600Ser) c.9203A>G (p.Asn3068Ser) n.11339A>G n.3145+6690T>C n.3013+6690T>C | |
6 | g.51659063T>G | CA364430261 | PKHD1 | c.11063A>C (p.Asn3688Thr) c.10934A>C (p.Asn3645Thr) c.10925A>C (p.Asn3642Thr) c.10421A>C (p.Asn3474Thr) c.10352A>C (p.Asn3451Thr) c.10157-9843A>C (n.10157-9843A>C) c.5138A>C (p.Asn1713Thr) n.535+6690T>G n.403+6690T>G c.10988A>C (p.Asn3663Thr) c.10868A>C (p.Asn3623Thr) c.10799A>C (p.Asn3600Thr) c.9203A>C (p.Asn3068Thr) n.11339A>C n.3145+6690T>G n.3013+6690T>G | |
6 | g.51659064T>A | CA364430263 | PKHD1 | c.11062A>T (p.Asn3688Tyr) c.10933A>T (p.Asn3645Tyr) c.10924A>T (p.Asn3642Tyr) c.10420A>T (p.Asn3474Tyr) c.10351A>T (p.Asn3451Tyr) c.10157-9844A>T (n.10157-9844A>T) c.5137A>T (p.Asn1713Tyr) n.535+6691T>A n.403+6691T>A c.10987A>T (p.Asn3663Tyr) c.10867A>T (p.Asn3623Tyr) c.10798A>T (p.Asn3600Tyr) c.9202A>T (p.Asn3068Tyr) n.11338A>T n.3145+6691T>A n.3013+6691T>A | |
6 | g.51659064T>C | CA364430264 | PKHD1 | c.11062A>G (p.Asn3688Asp) c.10933A>G (p.Asn3645Asp) c.10924A>G (p.Asn3642Asp) c.10420A>G (p.Asn3474Asp) c.10351A>G (p.Asn3451Asp) c.10157-9844A>G (n.10157-9844A>G) c.5137A>G (p.Asn1713Asp) n.535+6691T>C n.403+6691T>C c.10987A>G (p.Asn3663Asp) c.10867A>G (p.Asn3623Asp) c.10798A>G (p.Asn3600Asp) c.9202A>G (p.Asn3068Asp) n.11338A>G n.3145+6691T>C n.3013+6691T>C | |
6 | g.51659064T>G | CA364430266 | PKHD1 | c.11062A>C (p.Asn3688His) c.10933A>C (p.Asn3645His) c.10924A>C (p.Asn3642His) c.10420A>C (p.Asn3474His) c.10351A>C (p.Asn3451His) c.10157-9844A>C (n.10157-9844A>C) c.5137A>C (p.Asn1713His) n.535+6691T>G n.403+6691T>G c.10987A>C (p.Asn3663His) c.10867A>C (p.Asn3623His) c.10798A>C (p.Asn3600His) c.9202A>C (p.Asn3068His) n.11338A>C n.3145+6691T>G n.3013+6691T>G | |
6 | g.51659065C>A | CA364430269 | PKHD1 | c.11061G>T (p.Gln3687His) c.10932G>T (p.Gln3644His) c.10923G>T (p.Gln3641His) c.10419G>T (p.Gln3473His) c.10350G>T (p.Gln3450His) c.10157-9845G>T (n.10157-9845G>T) c.5136G>T (p.Gln1712His) n.535+6692C>A n.403+6692C>A c.10986G>T (p.Gln3662His) c.10866G>T (p.Gln3622His) c.10797G>T (p.Gln3599His) c.9201G>T (p.Gln3067His) n.11337G>T n.3145+6692C>A n.3013+6692C>A | |
6 | g.51659065C>G | CA364430270 | PKHD1 | c.11061G>C (p.Gln3687His) c.10932G>C (p.Gln3644His) c.10923G>C (p.Gln3641His) c.10419G>C (p.Gln3473His) c.10350G>C (p.Gln3450His) c.10157-9845G>C (n.10157-9845G>C) c.5136G>C (p.Gln1712His) n.535+6692C>G n.403+6692C>G c.10986G>C (p.Gln3662His) c.10866G>C (p.Gln3622His) c.10797G>C (p.Gln3599His) c.9201G>C (p.Gln3067His) n.11337G>C n.3145+6692C>G n.3013+6692C>G | |
6 | g.51659065C>T | CA450612676 | PKHD1 | c.11061G>A (p.Gln3687=) c.10932G>A (p.Gln3644=) c.10923G>A (p.Gln3641=) c.10419G>A (p.Gln3473=) c.10350G>A (p.Gln3450=) c.10157-9845G>A (n.10157-9845G>A) c.5136G>A (p.Gln1712=) n.535+6692C>T n.403+6692C>T c.10986G>A (p.Gln3662=) c.10866G>A (p.Gln3622=) c.10797G>A (p.Gln3599=) c.9201G>A (p.Gln3067=) n.11337G>A n.3145+6692C>T n.3013+6692C>T | |
6 | g.51659066T>A | CA364430271 | PKHD1 | c.11060A>T (p.Gln3687Leu) c.10931A>T (p.Gln3644Leu) c.10922A>T (p.Gln3641Leu) c.10418A>T (p.Gln3473Leu) c.10349A>T (p.Gln3450Leu) c.10157-9846A>T (n.10157-9846A>T) c.5135A>T (p.Gln1712Leu) n.535+6693T>A n.403+6693T>A c.10985A>T (p.Gln3662Leu) c.10865A>T (p.Gln3622Leu) c.10796A>T (p.Gln3599Leu) c.9200A>T (p.Gln3067Leu) n.11336A>T n.3145+6693T>A n.3013+6693T>A | |
6 | g.51659066T>C | CA364430273 | PKHD1 | c.11060A>G (p.Gln3687Arg) c.10931A>G (p.Gln3644Arg) c.10922A>G (p.Gln3641Arg) c.10418A>G (p.Gln3473Arg) c.10349A>G (p.Gln3450Arg) c.10157-9846A>G (n.10157-9846A>G) c.5135A>G (p.Gln1712Arg) n.535+6693T>C n.403+6693T>C c.10985A>G (p.Gln3662Arg) c.10865A>G (p.Gln3622Arg) c.10796A>G (p.Gln3599Arg) c.9200A>G (p.Gln3067Arg) n.11336A>G n.3145+6693T>C n.3013+6693T>C | gnomAD v4 |
6 | g.51659066T>G | CA364430272 | PKHD1 | c.11060A>C (p.Gln3687Pro) c.10931A>C (p.Gln3644Pro) c.10922A>C (p.Gln3641Pro) c.10418A>C (p.Gln3473Pro) c.10349A>C (p.Gln3450Pro) c.10157-9846A>C (n.10157-9846A>C) c.5135A>C (p.Gln1712Pro) n.535+6693T>G n.403+6693T>G c.10985A>C (p.Gln3662Pro) c.10865A>C (p.Gln3622Pro) c.10796A>C (p.Gln3599Pro) c.9200A>C (p.Gln3067Pro) n.11336A>C n.3145+6693T>G n.3013+6693T>G | |
6 | g.51659066delinsAA | CA2580075413 | PKHD1 | c.11060delinsTT (p.Gln3687LeufsTer?) c.10931delinsTT (p.Gln3644LeufsTer?) c.10922delinsTT (p.Gln3641LeufsTer?) c.10418delinsTT (p.Gln3473LeufsTer?) c.10349delinsTT (p.Gln3450LeufsTer?) c.10157-9846delinsTT (n.10157-9846delinsTT) c.5135delinsTT (p.Gln1712LeufsTer?) n.535+6693delinsAA n.403+6693delinsAA c.10985delinsTT (p.Gln3662LeufsTer?) c.10865delinsTT (p.Gln3622LeufsTer?) c.10796delinsTT (p.Gln3599LeufsTer?) c.9200delinsTT (p.Gln3067LeufsTer?) n.11336delinsTT n.3145+6693delinsAA n.3013+6693delinsAA | ClinVar |
6 | g.51659067G>A | CA364430274 | PKHD1 | c.11059C>T (p.Gln3687Ter) c.10930C>T (p.Gln3644Ter) c.10921C>T (p.Gln3641Ter) c.10417C>T (p.Gln3473Ter) c.10348C>T (p.Gln3450Ter) c.10157-9847C>T (n.10157-9847C>T) c.5134C>T (p.Gln1712Ter) n.535+6694G>A n.403+6694G>A c.10984C>T (p.Gln3662Ter) c.10864C>T (p.Gln3622Ter) c.10795C>T (p.Gln3599Ter) c.9199C>T (p.Gln3067Ter) n.11335C>T n.3145+6694G>A n.3013+6694G>A | ClinVar gnomAD v4 |
6 | g.51659067G>C | CA364430276 | PKHD1 | c.11059C>G (p.Gln3687Glu) c.10930C>G (p.Gln3644Glu) c.10921C>G (p.Gln3641Glu) c.10417C>G (p.Gln3473Glu) c.10348C>G (p.Gln3450Glu) c.10157-9847C>G (n.10157-9847C>G) c.5134C>G (p.Gln1712Glu) n.535+6694G>C n.403+6694G>C c.10984C>G (p.Gln3662Glu) c.10864C>G (p.Gln3622Glu) c.10795C>G (p.Gln3599Glu) c.9199C>G (p.Gln3067Glu) n.11335C>G n.3145+6694G>C n.3013+6694G>C | |
6 | g.51659067G>T | CA364430277 | PKHD1 | c.11059C>A (p.Gln3687Lys) c.10930C>A (p.Gln3644Lys) c.10921C>A (p.Gln3641Lys) c.10417C>A (p.Gln3473Lys) c.10348C>A (p.Gln3450Lys) c.10157-9847C>A (n.10157-9847C>A) c.5134C>A (p.Gln1712Lys) n.535+6694G>T n.403+6694G>T c.10984C>A (p.Gln3662Lys) c.10864C>A (p.Gln3622Lys) c.10795C>A (p.Gln3599Lys) c.9199C>A (p.Gln3067Lys) n.11335C>A n.3145+6694G>T n.3013+6694G>T | |
6 | g.51659068T>A | CA364430278 | PKHD1 | c.11058A>T (p.Leu3686Phe) c.10929A>T (p.Leu3643Phe) c.10920A>T (p.Leu3640Phe) c.10416A>T (p.Leu3472Phe) c.10347A>T (p.Leu3449Phe) c.10157-9848A>T (n.10157-9848A>T) c.5133A>T (p.Leu1711Phe) n.535+6695T>A n.403+6695T>A c.10983A>T (p.Leu3661Phe) c.10863A>T (p.Leu3621Phe) c.10794A>T (p.Leu3598Phe) c.9198A>T (p.Leu3066Phe) n.11334A>T n.3145+6695T>A n.3013+6695T>A | |
6 | g.51659068T>C | CA450612677 | PKHD1 | c.11058A>G (p.Leu3686=) c.10929A>G (p.Leu3643=) c.10920A>G (p.Leu3640=) c.10416A>G (p.Leu3472=) c.10347A>G (p.Leu3449=) c.10157-9848A>G (n.10157-9848A>G) c.5133A>G (p.Leu1711=) n.535+6695T>C n.403+6695T>C c.10983A>G (p.Leu3661=) c.10863A>G (p.Leu3621=) c.10794A>G (p.Leu3598=) c.9198A>G (p.Leu3066=) n.11334A>G n.3145+6695T>C n.3013+6695T>C | |
6 | g.51659068T>G | CA364430279 | PKHD1 | c.11058A>C (p.Leu3686Phe) c.10929A>C (p.Leu3643Phe) c.10920A>C (p.Leu3640Phe) c.10416A>C (p.Leu3472Phe) c.10347A>C (p.Leu3449Phe) c.10157-9848A>C (n.10157-9848A>C) c.5133A>C (p.Leu1711Phe) n.535+6695T>G n.403+6695T>G c.10983A>C (p.Leu3661Phe) c.10863A>C (p.Leu3621Phe) c.10794A>C (p.Leu3598Phe) c.9198A>C (p.Leu3066Phe) n.11334A>C n.3145+6695T>G n.3013+6695T>G | |
6 | g.51659069A>C | CA364430281 | PKHD1 | c.11057T>G (p.Leu3686Ter) c.10928T>G (p.Leu3643Ter) c.10919T>G (p.Leu3640Ter) c.10415T>G (p.Leu3472Ter) c.10346T>G (p.Leu3449Ter) c.10157-9849T>G (n.10157-9849T>G) c.5132T>G (p.Leu1711Ter) n.535+6696A>C n.403+6696A>C c.10982T>G (p.Leu3661Ter) c.10862T>G (p.Leu3621Ter) c.10793T>G (p.Leu3598Ter) c.9197T>G (p.Leu3066Ter) n.11333T>G n.3145+6696A>C n.3013+6696A>C | |
6 | g.51659069A>G | CA364430283 | PKHD1 | c.11057T>C (p.Leu3686Ser) c.10928T>C (p.Leu3643Ser) c.10919T>C (p.Leu3640Ser) c.10415T>C (p.Leu3472Ser) c.10346T>C (p.Leu3449Ser) c.10157-9849T>C (n.10157-9849T>C) c.5132T>C (p.Leu1711Ser) n.535+6696A>G n.403+6696A>G c.10982T>C (p.Leu3661Ser) c.10862T>C (p.Leu3621Ser) c.10793T>C (p.Leu3598Ser) c.9197T>C (p.Leu3066Ser) n.11333T>C n.3145+6696A>G n.3013+6696A>G | |
6 | g.51659069A>T | CA364430284 | PKHD1 | c.11057T>A (p.Leu3686Ter) c.10928T>A (p.Leu3643Ter) c.10919T>A (p.Leu3640Ter) c.10415T>A (p.Leu3472Ter) c.10346T>A (p.Leu3449Ter) c.10157-9849T>A (n.10157-9849T>A) c.5132T>A (p.Leu1711Ter) n.535+6696A>T n.403+6696A>T c.10982T>A (p.Leu3661Ter) c.10862T>A (p.Leu3621Ter) c.10793T>A (p.Leu3598Ter) c.9197T>A (p.Leu3066Ter) n.11333T>A n.3145+6696A>T n.3013+6696A>T | |
6 | g.51659070A= | CA1628438342 | PKHD1 | c.11056T= (p.Leu3686=) c.10927T= (p.Leu3643=) c.10918T= (p.Leu3640=) c.10414T= (p.Leu3472=) c.10345T= (p.Leu3449=) c.10157-9850T= (n.10157-9850T=) c.5131T= (p.Leu1711=) n.535+6697A= n.403+6697A= c.10981T= (p.Leu3661=) c.10861T= (p.Leu3621=) c.10792T= (p.Leu3598=) c.9196T= (p.Leu3066=) n.11332T= n.3145+6697A= n.3013+6697A= | |
6 | g.51659070A>C | CA364430285 | PKHD1 | c.11056T>G (p.Leu3686Val) c.10927T>G (p.Leu3643Val) c.10918T>G (p.Leu3640Val) c.10414T>G (p.Leu3472Val) c.10345T>G (p.Leu3449Val) c.10157-9850T>G (n.10157-9850T>G) c.5131T>G (p.Leu1711Val) n.535+6697A>C n.403+6697A>C c.10981T>G (p.Leu3661Val) c.10861T>G (p.Leu3621Val) c.10792T>G (p.Leu3598Val) c.9196T>G (p.Leu3066Val) n.11332T>G n.3145+6697A>C n.3013+6697A>C | |
6 | g.51659070A>G | CA450612678 | PKHD1 | c.11056T>C (p.Leu3686=) c.10927T>C (p.Leu3643=) c.10918T>C (p.Leu3640=) c.10414T>C (p.Leu3472=) c.10345T>C (p.Leu3449=) c.10157-9850T>C (n.10157-9850T>C) c.5131T>C (p.Leu1711=) n.535+6697A>G n.403+6697A>G c.10981T>C (p.Leu3661=) c.10861T>C (p.Leu3621=) c.10792T>C (p.Leu3598=) c.9196T>C (p.Leu3066=) n.11332T>C n.3145+6697A>G n.3013+6697A>G | dbSNP |
6 | g.51659070A>T | CA364430287 | PKHD1 | c.11056T>A (p.Leu3686Ile) c.10927T>A (p.Leu3643Ile) c.10918T>A (p.Leu3640Ile) c.10414T>A (p.Leu3472Ile) c.10345T>A (p.Leu3449Ile) c.10157-9850T>A (n.10157-9850T>A) c.5131T>A (p.Leu1711Ile) n.535+6697A>T n.403+6697A>T c.10981T>A (p.Leu3661Ile) c.10861T>A (p.Leu3621Ile) c.10792T>A (p.Leu3598Ile) c.9196T>A (p.Leu3066Ile) n.11332T>A n.3145+6697A>T n.3013+6697A>T | |
6 | g.51659071T>A | CA364430292 | PKHD1 | c.11055A>T (p.Lys3685Asn) c.10926A>T (p.Lys3642Asn) c.10917A>T (p.Lys3639Asn) c.10413A>T (p.Lys3471Asn) c.10344A>T (p.Lys3448Asn) c.10157-9851A>T (n.10157-9851A>T) c.5130A>T (p.Lys1710Asn) n.535+6698T>A n.403+6698T>A c.10980A>T (p.Lys3660Asn) c.10860A>T (p.Lys3620Asn) c.10791A>T (p.Lys3597Asn) c.9195A>T (p.Lys3065Asn) n.11331A>T n.3145+6698T>A n.3013+6698T>A | |
6 | g.51659071T>C | CA450612679 | PKHD1 | c.11055A>G (p.Lys3685=) c.10926A>G (p.Lys3642=) c.10917A>G (p.Lys3639=) c.10413A>G (p.Lys3471=) c.10344A>G (p.Lys3448=) c.10157-9851A>G (n.10157-9851A>G) c.5130A>G (p.Lys1710=) n.535+6698T>C n.403+6698T>C c.10980A>G (p.Lys3660=) c.10860A>G (p.Lys3620=) c.10791A>G (p.Lys3597=) c.9195A>G (p.Lys3065=) n.11331A>G n.3145+6698T>C n.3013+6698T>C | |
6 | g.51659071T>G | CA364430289 | PKHD1 | c.11055A>C (p.Lys3685Asn) c.10926A>C (p.Lys3642Asn) c.10917A>C (p.Lys3639Asn) c.10413A>C (p.Lys3471Asn) c.10344A>C (p.Lys3448Asn) c.10157-9851A>C (n.10157-9851A>C) c.5130A>C (p.Lys1710Asn) n.535+6698T>G n.403+6698T>G c.10980A>C (p.Lys3660Asn) c.10860A>C (p.Lys3620Asn) c.10791A>C (p.Lys3597Asn) c.9195A>C (p.Lys3065Asn) n.11331A>C n.3145+6698T>G n.3013+6698T>G | |
6 | g.51659072T>A | CA364430293 | PKHD1 | c.11054A>T (p.Lys3685Ile) c.10925A>T (p.Lys3642Ile) c.10916A>T (p.Lys3639Ile) c.10412A>T (p.Lys3471Ile) c.10343A>T (p.Lys3448Ile) c.10157-9852A>T (n.10157-9852A>T) c.5129A>T (p.Lys1710Ile) n.535+6699T>A n.403+6699T>A c.10979A>T (p.Lys3660Ile) c.10859A>T (p.Lys3620Ile) c.10790A>T (p.Lys3597Ile) c.9194A>T (p.Lys3065Ile) n.11330A>T n.3145+6699T>A n.3013+6699T>A | |
6 | g.51659072T>C | CA364430294 | PKHD1 | c.11054A>G (p.Lys3685Arg) c.10925A>G (p.Lys3642Arg) c.10916A>G (p.Lys3639Arg) c.10412A>G (p.Lys3471Arg) c.10343A>G (p.Lys3448Arg) c.10157-9852A>G (n.10157-9852A>G) c.5129A>G (p.Lys1710Arg) n.535+6699T>C n.403+6699T>C c.10979A>G (p.Lys3660Arg) c.10859A>G (p.Lys3620Arg) c.10790A>G (p.Lys3597Arg) c.9194A>G (p.Lys3065Arg) n.11330A>G n.3145+6699T>C n.3013+6699T>C | |
6 | g.51659072T>G | CA3850967 | PKHD1 | c.11054A>C (p.Lys3685Thr) c.10925A>C (p.Lys3642Thr) c.10916A>C (p.Lys3639Thr) c.10412A>C (p.Lys3471Thr) c.10343A>C (p.Lys3448Thr) c.10157-9852A>C (n.10157-9852A>C) c.5129A>C (p.Lys1710Thr) n.535+6699T>G n.403+6699T>G c.10979A>C (p.Lys3660Thr) c.10859A>C (p.Lys3620Thr) c.10790A>C (p.Lys3597Thr) c.9194A>C (p.Lys3065Thr) n.11330A>C n.3145+6699T>G n.3013+6699T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659072T= | CA1628438345 | PKHD1 | c.11054A= (p.Lys3685=) c.10925A= (p.Lys3642=) c.10916A= (p.Lys3639=) c.10412A= (p.Lys3471=) c.10343A= (p.Lys3448=) c.10157-9852A= (n.10157-9852A=) c.5129A= (p.Lys1710=) n.535+6699T= n.403+6699T= c.10979A= (p.Lys3660=) c.10859A= (p.Lys3620=) c.10790A= (p.Lys3597=) c.9194A= (p.Lys3065=) n.11330A= n.3145+6699T= n.3013+6699T= | |
6 | g.51659073T>A | CA364430295 | PKHD1 | c.11053A>T (p.Lys3685Ter) c.10924A>T (p.Lys3642Ter) c.10915A>T (p.Lys3639Ter) c.10411A>T (p.Lys3471Ter) c.10342A>T (p.Lys3448Ter) c.10157-9853A>T (n.10157-9853A>T) c.5128A>T (p.Lys1710Ter) n.535+6700T>A n.403+6700T>A c.10978A>T (p.Lys3660Ter) c.10858A>T (p.Lys3620Ter) c.10789A>T (p.Lys3597Ter) c.9193A>T (p.Lys3065Ter) n.11329A>T n.3145+6700T>A n.3013+6700T>A | |
6 | g.51659073T>C | CA364430296 | PKHD1 | c.11053A>G (p.Lys3685Glu) c.10924A>G (p.Lys3642Glu) c.10915A>G (p.Lys3639Glu) c.10411A>G (p.Lys3471Glu) c.10342A>G (p.Lys3448Glu) c.10157-9853A>G (n.10157-9853A>G) c.5128A>G (p.Lys1710Glu) n.535+6700T>C n.403+6700T>C c.10978A>G (p.Lys3660Glu) c.10858A>G (p.Lys3620Glu) c.10789A>G (p.Lys3597Glu) c.9193A>G (p.Lys3065Glu) n.11329A>G n.3145+6700T>C n.3013+6700T>C | |
6 | g.51659073T>G | CA364430297 | PKHD1 | c.11053A>C (p.Lys3685Gln) c.10924A>C (p.Lys3642Gln) c.10915A>C (p.Lys3639Gln) c.10411A>C (p.Lys3471Gln) c.10342A>C (p.Lys3448Gln) c.10157-9853A>C (n.10157-9853A>C) c.5128A>C (p.Lys1710Gln) n.535+6700T>G n.403+6700T>G c.10978A>C (p.Lys3660Gln) c.10858A>C (p.Lys3620Gln) c.10789A>C (p.Lys3597Gln) c.9193A>C (p.Lys3065Gln) n.11329A>C n.3145+6700T>G n.3013+6700T>G | |
6 | g.51659074G>A | CA450612680 | PKHD1 | c.11052C>T (p.Asn3684=) c.10923C>T (p.Asn3641=) c.10914C>T (p.Asn3638=) c.10410C>T (p.Asn3470=) c.10341C>T (p.Asn3447=) c.10157-9854C>T (n.10157-9854C>T) c.5127C>T (p.Asn1709=) n.535+6701G>A n.403+6701G>A c.10977C>T (p.Asn3659=) c.10857C>T (p.Asn3619=) c.10788C>T (p.Asn3596=) c.9192C>T (p.Asn3064=) n.11328C>T n.3145+6701G>A n.3013+6701G>A | gnomAD v4 COSMIC |
6 | g.51659074G>C | CA364430299 | PKHD1 | c.11052C>G (p.Asn3684Lys) c.10923C>G (p.Asn3641Lys) c.10914C>G (p.Asn3638Lys) c.10410C>G (p.Asn3470Lys) c.10341C>G (p.Asn3447Lys) c.10157-9854C>G (n.10157-9854C>G) c.5127C>G (p.Asn1709Lys) n.535+6701G>C n.403+6701G>C c.10977C>G (p.Asn3659Lys) c.10857C>G (p.Asn3619Lys) c.10788C>G (p.Asn3596Lys) c.9192C>G (p.Asn3064Lys) n.11328C>G n.3145+6701G>C n.3013+6701G>C | |
6 | g.51659074G>T | CA364430304 | PKHD1 | c.11052C>A (p.Asn3684Lys) c.10923C>A (p.Asn3641Lys) c.10914C>A (p.Asn3638Lys) c.10410C>A (p.Asn3470Lys) c.10341C>A (p.Asn3447Lys) c.10157-9854C>A (n.10157-9854C>A) c.5127C>A (p.Asn1709Lys) n.535+6701G>T n.403+6701G>T c.10977C>A (p.Asn3659Lys) c.10857C>A (p.Asn3619Lys) c.10788C>A (p.Asn3596Lys) c.9192C>A (p.Asn3064Lys) n.11328C>A n.3145+6701G>T n.3013+6701G>T | |
6 | g.51659075T>A | CA364430307 | PKHD1 | c.11051A>T (p.Asn3684Ile) c.10922A>T (p.Asn3641Ile) c.10913A>T (p.Asn3638Ile) c.10409A>T (p.Asn3470Ile) c.10340A>T (p.Asn3447Ile) c.10157-9855A>T (n.10157-9855A>T) c.5126A>T (p.Asn1709Ile) n.535+6702T>A n.403+6702T>A c.10976A>T (p.Asn3659Ile) c.10856A>T (p.Asn3619Ile) c.10787A>T (p.Asn3596Ile) c.9191A>T (p.Asn3064Ile) n.11327A>T n.3145+6702T>A n.3013+6702T>A | |
6 | g.51659075T>C | CA364430309 | PKHD1 | c.11051A>G (p.Asn3684Ser) c.10922A>G (p.Asn3641Ser) c.10913A>G (p.Asn3638Ser) c.10409A>G (p.Asn3470Ser) c.10340A>G (p.Asn3447Ser) c.10157-9855A>G (n.10157-9855A>G) c.5126A>G (p.Asn1709Ser) n.535+6702T>C n.403+6702T>C c.10976A>G (p.Asn3659Ser) c.10856A>G (p.Asn3619Ser) c.10787A>G (p.Asn3596Ser) c.9191A>G (p.Asn3064Ser) n.11327A>G n.3145+6702T>C n.3013+6702T>C | |
6 | g.51659075T>G | CA364430311 | PKHD1 | c.11051A>C (p.Asn3684Thr) c.10922A>C (p.Asn3641Thr) c.10913A>C (p.Asn3638Thr) c.10409A>C (p.Asn3470Thr) c.10340A>C (p.Asn3447Thr) c.10157-9855A>C (n.10157-9855A>C) c.5126A>C (p.Asn1709Thr) n.535+6702T>G n.403+6702T>G c.10976A>C (p.Asn3659Thr) c.10856A>C (p.Asn3619Thr) c.10787A>C (p.Asn3596Thr) c.9191A>C (p.Asn3064Thr) n.11327A>C n.3145+6702T>G n.3013+6702T>G | dbSNP gnomAD v4 |
6 | g.51659076T>A | CA364430313 | PKHD1 | c.11050A>T (p.Asn3684Tyr) c.10921A>T (p.Asn3641Tyr) c.10912A>T (p.Asn3638Tyr) c.10408A>T (p.Asn3470Tyr) c.10339A>T (p.Asn3447Tyr) c.10157-9856A>T (n.10157-9856A>T) c.5125A>T (p.Asn1709Tyr) n.535+6703T>A n.403+6703T>A c.10975A>T (p.Asn3659Tyr) c.10855A>T (p.Asn3619Tyr) c.10786A>T (p.Asn3596Tyr) c.9190A>T (p.Asn3064Tyr) n.11326A>T n.3145+6703T>A n.3013+6703T>A | |
6 | g.51659076T>C | CA364430314 | PKHD1 | c.11050A>G (p.Asn3684Asp) c.10921A>G (p.Asn3641Asp) c.10912A>G (p.Asn3638Asp) c.10408A>G (p.Asn3470Asp) c.10339A>G (p.Asn3447Asp) c.10157-9856A>G (n.10157-9856A>G) c.5125A>G (p.Asn1709Asp) n.535+6703T>C n.403+6703T>C c.10975A>G (p.Asn3659Asp) c.10855A>G (p.Asn3619Asp) c.10786A>G (p.Asn3596Asp) c.9190A>G (p.Asn3064Asp) n.11326A>G n.3145+6703T>C n.3013+6703T>C | COSMIC |
6 | g.51659076T>G | CA364430316 | PKHD1 | c.11050A>C (p.Asn3684His) c.10921A>C (p.Asn3641His) c.10912A>C (p.Asn3638His) c.10408A>C (p.Asn3470His) c.10339A>C (p.Asn3447His) c.10157-9856A>C (n.10157-9856A>C) c.5125A>C (p.Asn1709His) n.535+6703T>G n.403+6703T>G c.10975A>C (p.Asn3659His) c.10855A>C (p.Asn3619His) c.10786A>C (p.Asn3596His) c.9190A>C (p.Asn3064His) n.11326A>C n.3145+6703T>G n.3013+6703T>G | |
6 | g.51659077A>C | CA364430319 | PKHD1 | c.11049T>G (p.Ser3683Arg) c.10920T>G (p.Ser3640Arg) c.10911T>G (p.Ser3637Arg) c.10407T>G (p.Ser3469Arg) c.10338T>G (p.Ser3446Arg) c.10157-9857T>G (n.10157-9857T>G) c.5124T>G (p.Ser1708Arg) n.535+6704A>C n.403+6704A>C c.10974T>G (p.Ser3658Arg) c.10854T>G (p.Ser3618Arg) c.10785T>G (p.Ser3595Arg) c.9189T>G (p.Ser3063Arg) n.11325T>G n.3145+6704A>C n.3013+6704A>C | |
6 | g.51659077A>G | CA450612681 | PKHD1 | c.11049T>C (p.Ser3683=) c.10920T>C (p.Ser3640=) c.10911T>C (p.Ser3637=) c.10407T>C (p.Ser3469=) c.10338T>C (p.Ser3446=) c.10157-9857T>C (n.10157-9857T>C) c.5124T>C (p.Ser1708=) n.535+6704A>G n.403+6704A>G c.10974T>C (p.Ser3658=) c.10854T>C (p.Ser3618=) c.10785T>C (p.Ser3595=) c.9189T>C (p.Ser3063=) n.11325T>C n.3145+6704A>G n.3013+6704A>G | |
6 | g.51659077A>T | CA364430320 | PKHD1 | c.11049T>A (p.Ser3683Arg) c.10920T>A (p.Ser3640Arg) c.10911T>A (p.Ser3637Arg) c.10407T>A (p.Ser3469Arg) c.10338T>A (p.Ser3446Arg) c.10157-9857T>A (n.10157-9857T>A) c.5124T>A (p.Ser1708Arg) n.535+6704A>T n.403+6704A>T c.10974T>A (p.Ser3658Arg) c.10854T>A (p.Ser3618Arg) c.10785T>A (p.Ser3595Arg) c.9189T>A (p.Ser3063Arg) n.11325T>A n.3145+6704A>T n.3013+6704A>T | |
6 | g.51659078C>A | CA364430323 | PKHD1 | c.11048G>T (p.Ser3683Ile) c.10919G>T (p.Ser3640Ile) c.10910G>T (p.Ser3637Ile) c.10406G>T (p.Ser3469Ile) c.10337G>T (p.Ser3446Ile) c.10157-9858G>T (n.10157-9858G>T) c.5123G>T (p.Ser1708Ile) n.535+6705C>A n.403+6705C>A c.10973G>T (p.Ser3658Ile) c.10853G>T (p.Ser3618Ile) c.10784G>T (p.Ser3595Ile) c.9188G>T (p.Ser3063Ile) n.11324G>T n.3145+6705C>A n.3013+6705C>A | |
6 | g.51659078C>G | CA364430325 | PKHD1 | c.11048G>C (p.Ser3683Thr) c.10919G>C (p.Ser3640Thr) c.10910G>C (p.Ser3637Thr) c.10406G>C (p.Ser3469Thr) c.10337G>C (p.Ser3446Thr) c.10157-9858G>C (n.10157-9858G>C) c.5123G>C (p.Ser1708Thr) n.535+6705C>G n.403+6705C>G c.10973G>C (p.Ser3658Thr) c.10853G>C (p.Ser3618Thr) c.10784G>C (p.Ser3595Thr) c.9188G>C (p.Ser3063Thr) n.11324G>C n.3145+6705C>G n.3013+6705C>G | |
6 | g.51659078C>T | CA364430327 | PKHD1 | c.11048G>A (p.Ser3683Asn) c.10919G>A (p.Ser3640Asn) c.10910G>A (p.Ser3637Asn) c.10406G>A (p.Ser3469Asn) c.10337G>A (p.Ser3446Asn) c.10157-9858G>A (n.10157-9858G>A) c.5123G>A (p.Ser1708Asn) n.535+6705C>T n.403+6705C>T c.10973G>A (p.Ser3658Asn) c.10853G>A (p.Ser3618Asn) c.10784G>A (p.Ser3595Asn) c.9188G>A (p.Ser3063Asn) n.11324G>A n.3145+6705C>T n.3013+6705C>T | |
6 | g.51659079T>A | CA364430329 | PKHD1 | c.11047A>T (p.Ser3683Cys) c.10918A>T (p.Ser3640Cys) c.10909A>T (p.Ser3637Cys) c.10405A>T (p.Ser3469Cys) c.10336A>T (p.Ser3446Cys) c.10157-9859A>T (n.10157-9859A>T) c.5122A>T (p.Ser1708Cys) n.535+6706T>A n.403+6706T>A c.10972A>T (p.Ser3658Cys) c.10852A>T (p.Ser3618Cys) c.10783A>T (p.Ser3595Cys) c.9187A>T (p.Ser3063Cys) n.11323A>T n.3145+6706T>A n.3013+6706T>A | |
6 | g.51659079T>C | CA3850968 | PKHD1 | c.11047A>G (p.Ser3683Gly) c.10918A>G (p.Ser3640Gly) c.10909A>G (p.Ser3637Gly) c.10405A>G (p.Ser3469Gly) c.10336A>G (p.Ser3446Gly) c.10157-9859A>G (n.10157-9859A>G) c.5122A>G (p.Ser1708Gly) n.535+6706T>C n.403+6706T>C c.10972A>G (p.Ser3658Gly) c.10852A>G (p.Ser3618Gly) c.10783A>G (p.Ser3595Gly) c.9187A>G (p.Ser3063Gly) n.11323A>G n.3145+6706T>C n.3013+6706T>C | dbSNP ExAC gnomAD v2 |
6 | g.51659079T>G | CA364430332 | PKHD1 | c.11047A>C (p.Ser3683Arg) c.10918A>C (p.Ser3640Arg) c.10909A>C (p.Ser3637Arg) c.10405A>C (p.Ser3469Arg) c.10336A>C (p.Ser3446Arg) c.10157-9859A>C (n.10157-9859A>C) c.5122A>C (p.Ser1708Arg) n.535+6706T>G n.403+6706T>G c.10972A>C (p.Ser3658Arg) c.10852A>C (p.Ser3618Arg) c.10783A>C (p.Ser3595Arg) c.9187A>C (p.Ser3063Arg) n.11323A>C n.3145+6706T>G n.3013+6706T>G | |
6 | g.51659079T= | CA1628438347 | PKHD1 | c.11047A= (p.Ser3683=) c.10918A= (p.Ser3640=) c.10909A= (p.Ser3637=) c.10405A= (p.Ser3469=) c.10336A= (p.Ser3446=) c.10157-9859A= (n.10157-9859A=) c.5122A= (p.Ser1708=) n.535+6706T= n.403+6706T= c.10972A= (p.Ser3658=) c.10852A= (p.Ser3618=) c.10783A= (p.Ser3595=) c.9187A= (p.Ser3063=) n.11323A= n.3145+6706T= n.3013+6706T= | |
6 | g.51659080T>A | CA450612682 | PKHD1 | c.11046A>T (p.Ser3682=) c.10917A>T (p.Ser3639=) c.10908A>T (p.Ser3636=) c.10404A>T (p.Ser3468=) c.10335A>T (p.Ser3445=) c.10157-9860A>T (n.10157-9860A>T) c.5121A>T (p.Ser1707=) n.535+6707T>A n.403+6707T>A c.10971A>T (p.Ser3657=) c.10851A>T (p.Ser3617=) c.10782A>T (p.Ser3594=) c.9186A>T (p.Ser3062=) n.11322A>T n.3145+6707T>A n.3013+6707T>A | |
6 | g.51659080T>C | CA450612683 | PKHD1 | c.11046A>G (p.Ser3682=) c.10917A>G (p.Ser3639=) c.10908A>G (p.Ser3636=) c.10404A>G (p.Ser3468=) c.10335A>G (p.Ser3445=) c.10157-9860A>G (n.10157-9860A>G) c.5121A>G (p.Ser1707=) n.535+6707T>C n.403+6707T>C c.10971A>G (p.Ser3657=) c.10851A>G (p.Ser3617=) c.10782A>G (p.Ser3594=) c.9186A>G (p.Ser3062=) n.11322A>G n.3145+6707T>C n.3013+6707T>C | ClinVar |
6 | g.51659080T>G | CA450612684 | PKHD1 | c.11046A>C (p.Ser3682=) c.10917A>C (p.Ser3639=) c.10908A>C (p.Ser3636=) c.10404A>C (p.Ser3468=) c.10335A>C (p.Ser3445=) c.10157-9860A>C (n.10157-9860A>C) c.5121A>C (p.Ser1707=) n.535+6707T>G n.403+6707T>G c.10971A>C (p.Ser3657=) c.10851A>C (p.Ser3617=) c.10782A>C (p.Ser3594=) c.9186A>C (p.Ser3062=) n.11322A>C n.3145+6707T>G n.3013+6707T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659080T= | CA1628438349 | PKHD1 | c.11046A= (p.Ser3682=) c.10917A= (p.Ser3639=) c.10908A= (p.Ser3636=) c.10404A= (p.Ser3468=) c.10335A= (p.Ser3445=) c.10157-9860A= (n.10157-9860A=) c.5121A= (p.Ser1707=) n.535+6707T= n.403+6707T= c.10971A= (p.Ser3657=) c.10851A= (p.Ser3617=) c.10782A= (p.Ser3594=) c.9186A= (p.Ser3062=) n.11322A= n.3145+6707T= n.3013+6707T= | |
6 | g.51659081G>A | CA364430335 | PKHD1 | c.11045C>T (p.Ser3682Leu) c.10916C>T (p.Ser3639Leu) c.10907C>T (p.Ser3636Leu) c.10403C>T (p.Ser3468Leu) c.10334C>T (p.Ser3445Leu) c.10157-9861C>T (n.10157-9861C>T) c.5120C>T (p.Ser1707Leu) n.535+6708G>A n.403+6708G>A c.10970C>T (p.Ser3657Leu) c.10850C>T (p.Ser3617Leu) c.10781C>T (p.Ser3594Leu) c.9185C>T (p.Ser3062Leu) n.11321C>T n.3145+6708G>A n.3013+6708G>A | |
6 | g.51659081G>C | CA364430338 | PKHD1 | c.11045C>G (p.Ser3682Ter) c.10916C>G (p.Ser3639Ter) c.10907C>G (p.Ser3636Ter) c.10403C>G (p.Ser3468Ter) c.10334C>G (p.Ser3445Ter) c.10157-9861C>G (n.10157-9861C>G) c.5120C>G (p.Ser1707Ter) n.535+6708G>C n.403+6708G>C c.10970C>G (p.Ser3657Ter) c.10850C>G (p.Ser3617Ter) c.10781C>G (p.Ser3594Ter) c.9185C>G (p.Ser3062Ter) n.11321C>G n.3145+6708G>C n.3013+6708G>C | |
6 | g.51659081G>T | CA364430340 | PKHD1 | c.11045C>A (p.Ser3682Ter) c.10916C>A (p.Ser3639Ter) c.10907C>A (p.Ser3636Ter) c.10403C>A (p.Ser3468Ter) c.10334C>A (p.Ser3445Ter) c.10157-9861C>A (n.10157-9861C>A) c.5120C>A (p.Ser1707Ter) n.535+6708G>T n.403+6708G>T c.10970C>A (p.Ser3657Ter) c.10850C>A (p.Ser3617Ter) c.10781C>A (p.Ser3594Ter) c.9185C>A (p.Ser3062Ter) n.11321C>A n.3145+6708G>T n.3013+6708G>T | |
6 | g.51659082A= | CA1628438352 | PKHD1 | c.11044T= (p.Ser3682=) c.10915T= (p.Ser3639=) c.10906T= (p.Ser3636=) c.10402T= (p.Ser3468=) c.10333T= (p.Ser3445=) c.10157-9862T= (n.10157-9862T=) c.5119T= (p.Ser1707=) n.535+6709A= n.403+6709A= c.10969T= (p.Ser3657=) c.10849T= (p.Ser3617=) c.10780T= (p.Ser3594=) c.9184T= (p.Ser3062=) n.11320T= n.3145+6709A= n.3013+6709A= | |
6 | g.51659082A>C | CA364430344 | PKHD1 | c.11044T>G (p.Ser3682Ala) c.10915T>G (p.Ser3639Ala) c.10906T>G (p.Ser3636Ala) c.10402T>G (p.Ser3468Ala) c.10333T>G (p.Ser3445Ala) c.10157-9862T>G (n.10157-9862T>G) c.5119T>G (p.Ser1707Ala) n.535+6709A>C n.403+6709A>C c.10969T>G (p.Ser3657Ala) c.10849T>G (p.Ser3617Ala) c.10780T>G (p.Ser3594Ala) c.9184T>G (p.Ser3062Ala) n.11320T>G n.3145+6709A>C n.3013+6709A>C | |
6 | g.51659082A>G | CA364430346 | PKHD1 | c.11044T>C (p.Ser3682Pro) c.10915T>C (p.Ser3639Pro) c.10906T>C (p.Ser3636Pro) c.10402T>C (p.Ser3468Pro) c.10333T>C (p.Ser3445Pro) c.10157-9862T>C (n.10157-9862T>C) c.5119T>C (p.Ser1707Pro) n.535+6709A>G n.403+6709A>G c.10969T>C (p.Ser3657Pro) c.10849T>C (p.Ser3617Pro) c.10780T>C (p.Ser3594Pro) c.9184T>C (p.Ser3062Pro) n.11320T>C n.3145+6709A>G n.3013+6709A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51659082A>T | CA364430350 | PKHD1 | c.11044T>A (p.Ser3682Thr) c.10915T>A (p.Ser3639Thr) c.10906T>A (p.Ser3636Thr) c.10402T>A (p.Ser3468Thr) c.10333T>A (p.Ser3445Thr) c.10157-9862T>A (n.10157-9862T>A) c.5119T>A (p.Ser1707Thr) n.535+6709A>T n.403+6709A>T c.10969T>A (p.Ser3657Thr) c.10849T>A (p.Ser3617Thr) c.10780T>A (p.Ser3594Thr) c.9184T>A (p.Ser3062Thr) n.11320T>A n.3145+6709A>T n.3013+6709A>T | |
6 | g.51659083del | CA2771047562 | PKHD1 | c.11043del (p.Leu3681PhefsTer22) c.10914del (p.Leu3638PhefsTer22) c.10905del (p.Leu3635PhefsTer22) c.10401del (p.Leu3467PhefsTer22) c.10332del (p.Leu3444PhefsTer22) c.10157-9863del (n.10157-9863del) c.5118del (p.Leu1706PhefsTer22) n.535+6710del n.403+6710del c.10968del (p.Leu3656PhefsTer22) c.10848del (p.Leu3616PhefsTer22) c.10779del (p.Leu3593PhefsTer22) c.9183del (p.Leu3061PhefsTer22) n.11319del n.3145+6710del n.3013+6710del | |
6 | g.51659083T>A | CA364430357 | PKHD1 | c.11043A>T (p.Leu3681Phe) c.10914A>T (p.Leu3638Phe) c.10905A>T (p.Leu3635Phe) c.10401A>T (p.Leu3467Phe) c.10332A>T (p.Leu3444Phe) c.10157-9863A>T (n.10157-9863A>T) c.5118A>T (p.Leu1706Phe) n.535+6710T>A n.403+6710T>A c.10968A>T (p.Leu3656Phe) c.10848A>T (p.Leu3616Phe) c.10779A>T (p.Leu3593Phe) c.9183A>T (p.Leu3061Phe) n.11319A>T n.3145+6710T>A n.3013+6710T>A | |
6 | g.51659083T>C | CA450612685 | PKHD1 | c.11043A>G (p.Leu3681=) c.10914A>G (p.Leu3638=) c.10905A>G (p.Leu3635=) c.10401A>G (p.Leu3467=) c.10332A>G (p.Leu3444=) c.10157-9863A>G (n.10157-9863A>G) c.5118A>G (p.Leu1706=) n.535+6710T>C n.403+6710T>C c.10968A>G (p.Leu3656=) c.10848A>G (p.Leu3616=) c.10779A>G (p.Leu3593=) c.9183A>G (p.Leu3061=) n.11319A>G n.3145+6710T>C n.3013+6710T>C | |
6 | g.51659083T>G | CA364430353 | PKHD1 | c.11043A>C (p.Leu3681Phe) c.10914A>C (p.Leu3638Phe) c.10905A>C (p.Leu3635Phe) c.10401A>C (p.Leu3467Phe) c.10332A>C (p.Leu3444Phe) c.10157-9863A>C (n.10157-9863A>C) c.5118A>C (p.Leu1706Phe) n.535+6710T>G n.403+6710T>G c.10968A>C (p.Leu3656Phe) c.10848A>C (p.Leu3616Phe) c.10779A>C (p.Leu3593Phe) c.9183A>C (p.Leu3061Phe) n.11319A>C n.3145+6710T>G n.3013+6710T>G | |
6 | g.51659084A>C | CA364430359 | PKHD1 | c.11042T>G (p.Leu3681Ter) c.10913T>G (p.Leu3638Ter) c.10904T>G (p.Leu3635Ter) c.10400T>G (p.Leu3467Ter) c.10331T>G (p.Leu3444Ter) c.10157-9864T>G (n.10157-9864T>G) c.5117T>G (p.Leu1706Ter) n.535+6711A>C n.403+6711A>C c.10967T>G (p.Leu3656Ter) c.10847T>G (p.Leu3616Ter) c.10778T>G (p.Leu3593Ter) c.9182T>G (p.Leu3061Ter) n.11318T>G n.3145+6711A>C n.3013+6711A>C | |
6 | g.51659084A>G | CA364430366 | PKHD1 | c.11042T>C (p.Leu3681Ser) c.10913T>C (p.Leu3638Ser) c.10904T>C (p.Leu3635Ser) c.10400T>C (p.Leu3467Ser) c.10331T>C (p.Leu3444Ser) c.10157-9864T>C (n.10157-9864T>C) c.5117T>C (p.Leu1706Ser) n.535+6711A>G n.403+6711A>G c.10967T>C (p.Leu3656Ser) c.10847T>C (p.Leu3616Ser) c.10778T>C (p.Leu3593Ser) c.9182T>C (p.Leu3061Ser) n.11318T>C n.3145+6711A>G n.3013+6711A>G | |
6 | g.51659084A>T | CA364430362 | PKHD1 | c.11042T>A (p.Leu3681Ter) c.10913T>A (p.Leu3638Ter) c.10904T>A (p.Leu3635Ter) c.10400T>A (p.Leu3467Ter) c.10331T>A (p.Leu3444Ter) c.10157-9864T>A (n.10157-9864T>A) c.5117T>A (p.Leu1706Ter) n.535+6711A>T n.403+6711A>T c.10967T>A (p.Leu3656Ter) c.10847T>A (p.Leu3616Ter) c.10778T>A (p.Leu3593Ter) c.9182T>A (p.Leu3061Ter) n.11318T>A n.3145+6711A>T n.3013+6711A>T | |
6 | g.51659085A>C | CA364430370 | PKHD1 | c.11041T>G (p.Leu3681Val) c.10912T>G (p.Leu3638Val) c.10903T>G (p.Leu3635Val) c.10399T>G (p.Leu3467Val) c.10330T>G (p.Leu3444Val) c.10157-9865T>G (n.10157-9865T>G) c.5116T>G (p.Leu1706Val) n.535+6712A>C n.403+6712A>C c.10966T>G (p.Leu3656Val) c.10846T>G (p.Leu3616Val) c.10777T>G (p.Leu3593Val) c.9181T>G (p.Leu3061Val) n.11317T>G n.3145+6712A>C n.3013+6712A>C | |
6 | g.51659085A>G | CA450612686 | PKHD1 | c.11041T>C (p.Leu3681=) c.10912T>C (p.Leu3638=) c.10903T>C (p.Leu3635=) c.10399T>C (p.Leu3467=) c.10330T>C (p.Leu3444=) c.10157-9865T>C (n.10157-9865T>C) c.5116T>C (p.Leu1706=) n.535+6712A>G n.403+6712A>G c.10966T>C (p.Leu3656=) c.10846T>C (p.Leu3616=) c.10777T>C (p.Leu3593=) c.9181T>C (p.Leu3061=) n.11317T>C n.3145+6712A>G n.3013+6712A>G | |
6 | g.51659085A>T | CA364430373 | PKHD1 | c.11041T>A (p.Leu3681Ile) c.10912T>A (p.Leu3638Ile) c.10903T>A (p.Leu3635Ile) c.10399T>A (p.Leu3467Ile) c.10330T>A (p.Leu3444Ile) c.10157-9865T>A (n.10157-9865T>A) c.5116T>A (p.Leu1706Ile) n.535+6712A>T n.403+6712A>T c.10966T>A (p.Leu3656Ile) c.10846T>A (p.Leu3616Ile) c.10777T>A (p.Leu3593Ile) c.9181T>A (p.Leu3061Ile) n.11317T>A n.3145+6712A>T n.3013+6712A>T | |
6 | g.51659086G>A | CA450612687 | PKHD1 | c.11040C>T (p.Ser3680=) c.10911C>T (p.Ser3637=) c.10902C>T (p.Ser3634=) c.10398C>T (p.Ser3466=) c.10329C>T (p.Ser3443=) c.10157-9866C>T (n.10157-9866C>T) c.5115C>T (p.Ser1705=) n.535+6713G>A n.403+6713G>A c.10965C>T (p.Ser3655=) c.10845C>T (p.Ser3615=) c.10776C>T (p.Ser3592=) c.9180C>T (p.Ser3060=) n.11316C>T n.3145+6713G>A n.3013+6713G>A | ClinVar dbSNP gnomAD v4 |
6 | g.51659086G>C | CA450612689 | PKHD1 | c.11040C>G (p.Ser3680=) c.10911C>G (p.Ser3637=) c.10902C>G (p.Ser3634=) c.10398C>G (p.Ser3466=) c.10329C>G (p.Ser3443=) c.10157-9866C>G (n.10157-9866C>G) c.5115C>G (p.Ser1705=) n.535+6713G>C n.403+6713G>C c.10965C>G (p.Ser3655=) c.10845C>G (p.Ser3615=) c.10776C>G (p.Ser3592=) c.9180C>G (p.Ser3060=) n.11316C>G n.3145+6713G>C n.3013+6713G>C | |
6 | g.51659086G= | CA1628438356 | PKHD1 | c.11040C= (p.Ser3680=) c.10911C= (p.Ser3637=) c.10902C= (p.Ser3634=) c.10398C= (p.Ser3466=) c.10329C= (p.Ser3443=) c.10157-9866C= (n.10157-9866C=) c.5115C= (p.Ser1705=) n.535+6713G= n.403+6713G= c.10965C= (p.Ser3655=) c.10845C= (p.Ser3615=) c.10776C= (p.Ser3592=) c.9180C= (p.Ser3060=) n.11316C= n.3145+6713G= n.3013+6713G= | |
6 | g.51659086G>T | CA450612688 | PKHD1 | c.11040C>A (p.Ser3680=) c.10911C>A (p.Ser3637=) c.10902C>A (p.Ser3634=) c.10398C>A (p.Ser3466=) c.10329C>A (p.Ser3443=) c.10157-9866C>A (n.10157-9866C>A) c.5115C>A (p.Ser1705=) n.535+6713G>T n.403+6713G>T c.10965C>A (p.Ser3655=) c.10845C>A (p.Ser3615=) c.10776C>A (p.Ser3592=) c.9180C>A (p.Ser3060=) n.11316C>A n.3145+6713G>T n.3013+6713G>T | ClinVar |
6 | g.51659087G>A | CA364430377 | PKHD1 | c.11039C>T (p.Ser3680Phe) c.10910C>T (p.Ser3637Phe) c.10901C>T (p.Ser3634Phe) c.10397C>T (p.Ser3466Phe) c.10328C>T (p.Ser3443Phe) c.10157-9867C>T (n.10157-9867C>T) c.5114C>T (p.Ser1705Phe) n.535+6714G>A n.403+6714G>A c.10964C>T (p.Ser3655Phe) c.10844C>T (p.Ser3615Phe) c.10775C>T (p.Ser3592Phe) c.9179C>T (p.Ser3060Phe) n.11315C>T n.3145+6714G>A n.3013+6714G>A | |
6 | g.51659087G>C | CA364430380 | PKHD1 | c.11039C>G (p.Ser3680Cys) c.10910C>G (p.Ser3637Cys) c.10901C>G (p.Ser3634Cys) c.10397C>G (p.Ser3466Cys) c.10328C>G (p.Ser3443Cys) c.10157-9867C>G (n.10157-9867C>G) c.5114C>G (p.Ser1705Cys) n.535+6714G>C n.403+6714G>C c.10964C>G (p.Ser3655Cys) c.10844C>G (p.Ser3615Cys) c.10775C>G (p.Ser3592Cys) c.9179C>G (p.Ser3060Cys) n.11315C>G n.3145+6714G>C n.3013+6714G>C | |
6 | g.51659087G>T | CA364430382 | PKHD1 | c.11039C>A (p.Ser3680Tyr) c.10910C>A (p.Ser3637Tyr) c.10901C>A (p.Ser3634Tyr) c.10397C>A (p.Ser3466Tyr) c.10328C>A (p.Ser3443Tyr) c.10157-9867C>A (n.10157-9867C>A) c.5114C>A (p.Ser1705Tyr) n.535+6714G>T n.403+6714G>T c.10964C>A (p.Ser3655Tyr) c.10844C>A (p.Ser3615Tyr) c.10775C>A (p.Ser3592Tyr) c.9179C>A (p.Ser3060Tyr) n.11315C>A n.3145+6714G>T n.3013+6714G>T | |
6 | g.51659088A>C | CA364430385 | PKHD1 | c.11038T>G (p.Ser3680Ala) c.10909T>G (p.Ser3637Ala) c.10900T>G (p.Ser3634Ala) c.10396T>G (p.Ser3466Ala) c.10327T>G (p.Ser3443Ala) c.10157-9868T>G (n.10157-9868T>G) c.5113T>G (p.Ser1705Ala) n.535+6715A>C n.403+6715A>C c.10963T>G (p.Ser3655Ala) c.10843T>G (p.Ser3615Ala) c.10774T>G (p.Ser3592Ala) c.9178T>G (p.Ser3060Ala) n.11314T>G n.3145+6715A>C n.3013+6715A>C | |
6 | g.51659088A>G | CA364430389 | PKHD1 | c.11038T>C (p.Ser3680Pro) c.10909T>C (p.Ser3637Pro) c.10900T>C (p.Ser3634Pro) c.10396T>C (p.Ser3466Pro) c.10327T>C (p.Ser3443Pro) c.10157-9868T>C (n.10157-9868T>C) c.5113T>C (p.Ser1705Pro) n.535+6715A>G n.403+6715A>G c.10963T>C (p.Ser3655Pro) c.10843T>C (p.Ser3615Pro) c.10774T>C (p.Ser3592Pro) c.9178T>C (p.Ser3060Pro) n.11314T>C n.3145+6715A>G n.3013+6715A>G | |
6 | g.51659088A>T | CA364430392 | PKHD1 | c.11038T>A (p.Ser3680Thr) c.10909T>A (p.Ser3637Thr) c.10900T>A (p.Ser3634Thr) c.10396T>A (p.Ser3466Thr) c.10327T>A (p.Ser3443Thr) c.10157-9868T>A (n.10157-9868T>A) c.5113T>A (p.Ser1705Thr) n.535+6715A>T n.403+6715A>T c.10963T>A (p.Ser3655Thr) c.10843T>A (p.Ser3615Thr) c.10774T>A (p.Ser3592Thr) c.9178T>A (p.Ser3060Thr) n.11314T>A n.3145+6715A>T n.3013+6715A>T | |
6 | g.51659089T>A | CA450612690 | PKHD1 | c.11037A>T (p.Ser3679=) c.10908A>T (p.Ser3636=) c.10899A>T (p.Ser3633=) c.10395A>T (p.Ser3465=) c.10326A>T (p.Ser3442=) c.10157-9869A>T (n.10157-9869A>T) c.5112A>T (p.Ser1704=) n.535+6716T>A n.403+6716T>A c.10962A>T (p.Ser3654=) c.10842A>T (p.Ser3614=) c.10773A>T (p.Ser3591=) c.9177A>T (p.Ser3059=) n.11313A>T n.3145+6716T>A n.3013+6716T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659089T>C | CA450612691 | PKHD1 | c.11037A>G (p.Ser3679=) c.10908A>G (p.Ser3636=) c.10899A>G (p.Ser3633=) c.10395A>G (p.Ser3465=) c.10326A>G (p.Ser3442=) c.10157-9869A>G (n.10157-9869A>G) c.5112A>G (p.Ser1704=) n.535+6716T>C n.403+6716T>C c.10962A>G (p.Ser3654=) c.10842A>G (p.Ser3614=) c.10773A>G (p.Ser3591=) c.9177A>G (p.Ser3059=) n.11313A>G n.3145+6716T>C n.3013+6716T>C | |
6 | g.51659089T>G | CA450612692 | PKHD1 | c.11037A>C (p.Ser3679=) c.10908A>C (p.Ser3636=) c.10899A>C (p.Ser3633=) c.10395A>C (p.Ser3465=) c.10326A>C (p.Ser3442=) c.10157-9869A>C (n.10157-9869A>C) c.5112A>C (p.Ser1704=) n.535+6716T>G n.403+6716T>G c.10962A>C (p.Ser3654=) c.10842A>C (p.Ser3614=) c.10773A>C (p.Ser3591=) c.9177A>C (p.Ser3059=) n.11313A>C n.3145+6716T>G n.3013+6716T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659089T= | CA1628438358 | PKHD1 | c.11037A= (p.Ser3679=) c.10908A= (p.Ser3636=) c.10899A= (p.Ser3633=) c.10395A= (p.Ser3465=) c.10326A= (p.Ser3442=) c.10157-9869A= (n.10157-9869A=) c.5112A= (p.Ser1704=) n.535+6716T= n.403+6716T= c.10962A= (p.Ser3654=) c.10842A= (p.Ser3614=) c.10773A= (p.Ser3591=) c.9177A= (p.Ser3059=) n.11313A= n.3145+6716T= n.3013+6716T= | |
6 | g.51659090G>A | CA364430396 | PKHD1 | c.11036C>T (p.Ser3679Leu) c.10907C>T (p.Ser3636Leu) c.10898C>T (p.Ser3633Leu) c.10394C>T (p.Ser3465Leu) c.10325C>T (p.Ser3442Leu) c.10157-9870C>T (n.10157-9870C>T) c.5111C>T (p.Ser1704Leu) n.535+6717G>A n.403+6717G>A c.10961C>T (p.Ser3654Leu) c.10841C>T (p.Ser3614Leu) c.10772C>T (p.Ser3591Leu) c.9176C>T (p.Ser3059Leu) n.11312C>T n.3145+6717G>A n.3013+6717G>A | |
6 | g.51659090G>C | CA364430398 | PKHD1 | c.11036C>G (p.Ser3679Ter) c.10907C>G (p.Ser3636Ter) c.10898C>G (p.Ser3633Ter) c.10394C>G (p.Ser3465Ter) c.10325C>G (p.Ser3442Ter) c.10157-9870C>G (n.10157-9870C>G) c.5111C>G (p.Ser1704Ter) n.535+6717G>C n.403+6717G>C c.10961C>G (p.Ser3654Ter) c.10841C>G (p.Ser3614Ter) c.10772C>G (p.Ser3591Ter) c.9176C>G (p.Ser3059Ter) n.11312C>G n.3145+6717G>C n.3013+6717G>C | |
6 | g.51659090G>T | CA364430400 | PKHD1 | c.11036C>A (p.Ser3679Ter) c.10907C>A (p.Ser3636Ter) c.10898C>A (p.Ser3633Ter) c.10394C>A (p.Ser3465Ter) c.10325C>A (p.Ser3442Ter) c.10157-9870C>A (n.10157-9870C>A) c.5111C>A (p.Ser1704Ter) n.535+6717G>T n.403+6717G>T c.10961C>A (p.Ser3654Ter) c.10841C>A (p.Ser3614Ter) c.10772C>A (p.Ser3591Ter) c.9176C>A (p.Ser3059Ter) n.11312C>A n.3145+6717G>T n.3013+6717G>T | |
6 | g.51659090_51659091delinsGA | CA1628438360 | PKHD1 | c.11035_11036delinsTC (p.Ser3679=) c.10906_10907delinsTC (p.Ser3636=) c.10897_10898delinsTC (p.Ser3633=) c.10393_10394delinsTC (p.Ser3465=) c.10324_10325delinsTC (p.Ser3442=) c.10157-9871_10157-9870delinsTC (n.10157-9871_10157-9870delinsTC) c.5110_5111delinsTC (p.Ser1704=) n.535+6717_535+6718delinsGA n.403+6717_403+6718delinsGA c.10960_10961delinsTC (p.Ser3654=) c.10840_10841delinsTC (p.Ser3614=) c.10771_10772delinsTC (p.Ser3591=) c.9175_9176delinsTC (p.Ser3059=) n.11311_11312delinsTC n.3145+6717_3145+6718delinsGA n.3013+6717_3013+6718delinsGA | |
6 | g.51659091A>C | CA364430404 | PKHD1 | c.11035T>G (p.Ser3679Ala) c.10906T>G (p.Ser3636Ala) c.10897T>G (p.Ser3633Ala) c.10393T>G (p.Ser3465Ala) c.10324T>G (p.Ser3442Ala) c.10157-9871T>G (n.10157-9871T>G) c.5110T>G (p.Ser1704Ala) n.535+6718A>C n.403+6718A>C c.10960T>G (p.Ser3654Ala) c.10840T>G (p.Ser3614Ala) c.10771T>G (p.Ser3591Ala) c.9175T>G (p.Ser3059Ala) n.11311T>G n.3145+6718A>C n.3013+6718A>C | |
6 | g.51659091A>G | CA364430407 | PKHD1 | c.11035T>C (p.Ser3679Pro) c.10906T>C (p.Ser3636Pro) c.10897T>C (p.Ser3633Pro) c.10393T>C (p.Ser3465Pro) c.10324T>C (p.Ser3442Pro) c.10157-9871T>C (n.10157-9871T>C) c.5110T>C (p.Ser1704Pro) n.535+6718A>G n.403+6718A>G c.10960T>C (p.Ser3654Pro) c.10840T>C (p.Ser3614Pro) c.10771T>C (p.Ser3591Pro) c.9175T>C (p.Ser3059Pro) n.11311T>C n.3145+6718A>G n.3013+6718A>G | |
6 | g.51659091A>T | CA364430410 | PKHD1 | c.11035T>A (p.Ser3679Thr) c.10906T>A (p.Ser3636Thr) c.10897T>A (p.Ser3633Thr) c.10393T>A (p.Ser3465Thr) c.10324T>A (p.Ser3442Thr) c.10157-9871T>A (n.10157-9871T>A) c.5110T>A (p.Ser1704Thr) n.535+6718A>T n.403+6718A>T c.10960T>A (p.Ser3654Thr) c.10840T>A (p.Ser3614Thr) c.10771T>A (p.Ser3591Thr) c.9175T>A (p.Ser3059Thr) n.11311T>A n.3145+6718A>T n.3013+6718A>T | |
6 | g.51659093del | CA567635983 | PKHD1 | c.11035del (p.Ser3679HisfsTer24) c.10906del (p.Ser3636HisfsTer24) c.10897del (p.Ser3633HisfsTer24) c.10393del (p.Ser3465HisfsTer24) c.10324del (p.Ser3442HisfsTer24) c.10157-9871del (n.10157-9871del) c.5110del (p.Ser1704HisfsTer24) n.535+6720del n.403+6720del c.10960del (p.Ser3654HisfsTer24) c.10840del (p.Ser3614HisfsTer24) c.10771del (p.Ser3591HisfsTer24) c.9175del (p.Ser3059HisfsTer24) n.11311del n.3145+6720del n.3013+6720del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659092A>C | CA364430413 | PKHD1 | c.11034T>G (p.Ile3678Met) c.10905T>G (p.Ile3635Met) c.10896T>G (p.Ile3632Met) c.10392T>G (p.Ile3464Met) c.10323T>G (p.Ile3441Met) c.10157-9872T>G (n.10157-9872T>G) c.5109T>G (p.Ile1703Met) n.535+6719A>C n.403+6719A>C c.10959T>G (p.Ile3653Met) c.10839T>G (p.Ile3613Met) c.10770T>G (p.Ile3590Met) c.9174T>G (p.Ile3058Met) n.11310T>G n.3145+6719A>C n.3013+6719A>C | |
6 | g.51659092A>G | CA450612693 | PKHD1 | c.11034T>C (p.Ile3678=) c.10905T>C (p.Ile3635=) c.10896T>C (p.Ile3632=) c.10392T>C (p.Ile3464=) c.10323T>C (p.Ile3441=) c.10157-9872T>C (n.10157-9872T>C) c.5109T>C (p.Ile1703=) n.535+6719A>G n.403+6719A>G c.10959T>C (p.Ile3653=) c.10839T>C (p.Ile3613=) c.10770T>C (p.Ile3590=) c.9174T>C (p.Ile3058=) n.11310T>C n.3145+6719A>G n.3013+6719A>G | |
6 | g.51659092A>T | CA450612694 | PKHD1 | c.11034T>A (p.Ile3678=) c.10905T>A (p.Ile3635=) c.10896T>A (p.Ile3632=) c.10392T>A (p.Ile3464=) c.10323T>A (p.Ile3441=) c.10157-9872T>A (n.10157-9872T>A) c.5109T>A (p.Ile1703=) n.535+6719A>T n.403+6719A>T c.10959T>A (p.Ile3653=) c.10839T>A (p.Ile3613=) c.10770T>A (p.Ile3590=) c.9174T>A (p.Ile3058=) n.11310T>A n.3145+6719A>T n.3013+6719A>T | |
6 | g.51659093A>C | CA364430416 | PKHD1 | c.11033T>G (p.Ile3678Ser) c.10904T>G (p.Ile3635Ser) c.10895T>G (p.Ile3632Ser) c.10391T>G (p.Ile3464Ser) c.10322T>G (p.Ile3441Ser) c.10157-9873T>G (n.10157-9873T>G) c.5108T>G (p.Ile1703Ser) n.535+6720A>C n.403+6720A>C c.10958T>G (p.Ile3653Ser) c.10838T>G (p.Ile3613Ser) c.10769T>G (p.Ile3590Ser) c.9173T>G (p.Ile3058Ser) n.11309T>G n.3145+6720A>C n.3013+6720A>C | |
6 | g.51659093A>G | CA364430422 | PKHD1 | c.11033T>C (p.Ile3678Thr) c.10904T>C (p.Ile3635Thr) c.10895T>C (p.Ile3632Thr) c.10391T>C (p.Ile3464Thr) c.10322T>C (p.Ile3441Thr) c.10157-9873T>C (n.10157-9873T>C) c.5108T>C (p.Ile1703Thr) n.535+6720A>G n.403+6720A>G c.10958T>C (p.Ile3653Thr) c.10838T>C (p.Ile3613Thr) c.10769T>C (p.Ile3590Thr) c.9173T>C (p.Ile3058Thr) n.11309T>C n.3145+6720A>G n.3013+6720A>G | |
6 | g.51659093A>T | CA364430419 | PKHD1 | c.11033T>A (p.Ile3678Asn) c.10904T>A (p.Ile3635Asn) c.10895T>A (p.Ile3632Asn) c.10391T>A (p.Ile3464Asn) c.10322T>A (p.Ile3441Asn) c.10157-9873T>A (n.10157-9873T>A) c.5108T>A (p.Ile1703Asn) n.535+6720A>T n.403+6720A>T c.10958T>A (p.Ile3653Asn) c.10838T>A (p.Ile3613Asn) c.10769T>A (p.Ile3590Asn) c.9173T>A (p.Ile3058Asn) n.11309T>A n.3145+6720A>T n.3013+6720A>T | |
6 | g.51659094T>A | CA364430431 | PKHD1 | c.11032A>T (p.Ile3678Phe) c.10903A>T (p.Ile3635Phe) c.10894A>T (p.Ile3632Phe) c.10390A>T (p.Ile3464Phe) c.10321A>T (p.Ile3441Phe) c.10157-9874A>T (n.10157-9874A>T) c.5107A>T (p.Ile1703Phe) n.535+6721T>A n.403+6721T>A c.10957A>T (p.Ile3653Phe) c.10837A>T (p.Ile3613Phe) c.10768A>T (p.Ile3590Phe) c.9172A>T (p.Ile3058Phe) n.11308A>T n.3145+6721T>A n.3013+6721T>A | gnomAD v4 |
6 | g.51659094T>C | CA364430433 | PKHD1 | c.11032A>G (p.Ile3678Val) c.10903A>G (p.Ile3635Val) c.10894A>G (p.Ile3632Val) c.10390A>G (p.Ile3464Val) c.10321A>G (p.Ile3441Val) c.10157-9874A>G (n.10157-9874A>G) c.5107A>G (p.Ile1703Val) n.535+6721T>C n.403+6721T>C c.10957A>G (p.Ile3653Val) c.10837A>G (p.Ile3613Val) c.10768A>G (p.Ile3590Val) c.9172A>G (p.Ile3058Val) n.11308A>G n.3145+6721T>C n.3013+6721T>C | |
6 | g.51659094T>G | CA364430437 | PKHD1 | c.11032A>C (p.Ile3678Leu) c.10903A>C (p.Ile3635Leu) c.10894A>C (p.Ile3632Leu) c.10390A>C (p.Ile3464Leu) c.10321A>C (p.Ile3441Leu) c.10157-9874A>C (n.10157-9874A>C) c.5107A>C (p.Ile1703Leu) n.535+6721T>G n.403+6721T>G c.10957A>C (p.Ile3653Leu) c.10837A>C (p.Ile3613Leu) c.10768A>C (p.Ile3590Leu) c.9172A>C (p.Ile3058Leu) n.11308A>C n.3145+6721T>G n.3013+6721T>G | |
6 | g.51659095C>A | CA364430441 | PKHD1 | c.11031G>T (p.Met3677Ile) c.10902G>T (p.Met3634Ile) c.10893G>T (p.Met3631Ile) c.10389G>T (p.Met3463Ile) c.10320G>T (p.Met3440Ile) c.10157-9875G>T (n.10157-9875G>T) c.5106G>T (p.Met1702Ile) n.535+6722C>A n.403+6722C>A c.10956G>T (p.Met3652Ile) c.10836G>T (p.Met3612Ile) c.10767G>T (p.Met3589Ile) c.9171G>T (p.Met3057Ile) n.11307G>T n.3145+6722C>A n.3013+6722C>A | gnomAD v4 |
6 | g.51659095C>G | CA364430444 | PKHD1 | c.11031G>C (p.Met3677Ile) c.10902G>C (p.Met3634Ile) c.10893G>C (p.Met3631Ile) c.10389G>C (p.Met3463Ile) c.10320G>C (p.Met3440Ile) c.10157-9875G>C (n.10157-9875G>C) c.5106G>C (p.Met1702Ile) n.535+6722C>G n.403+6722C>G c.10956G>C (p.Met3652Ile) c.10836G>C (p.Met3612Ile) c.10767G>C (p.Met3589Ile) c.9171G>C (p.Met3057Ile) n.11307G>C n.3145+6722C>G n.3013+6722C>G | |
6 | g.51659095C>T | CA364430446 | PKHD1 | c.11031G>A (p.Met3677Ile) c.10902G>A (p.Met3634Ile) c.10893G>A (p.Met3631Ile) c.10389G>A (p.Met3463Ile) c.10320G>A (p.Met3440Ile) c.10157-9875G>A (n.10157-9875G>A) c.5106G>A (p.Met1702Ile) n.535+6722C>T n.403+6722C>T c.10956G>A (p.Met3652Ile) c.10836G>A (p.Met3612Ile) c.10767G>A (p.Met3589Ile) c.9171G>A (p.Met3057Ile) n.11307G>A n.3145+6722C>T n.3013+6722C>T | |
6 | g.51659095_51659096del | CA2552450756 | PKHD1 | c.11030_11031del (p.Met3677AsnfsTer7) c.10901_10902del (p.Met3634AsnfsTer7) c.10892_10893del (p.Met3631AsnfsTer7) c.10388_10389del (p.Met3463AsnfsTer7) c.10319_10320del (p.Met3440AsnfsTer7) c.10157-9876_10157-9875del (n.10157-9876_10157-9875del) c.5105_5106del (p.Met1702AsnfsTer7) n.535+6722_535+6723del n.403+6722_403+6723del c.10955_10956del (p.Met3652AsnfsTer7) c.10835_10836del (p.Met3612AsnfsTer7) c.10766_10767del (p.Met3589AsnfsTer7) c.9170_9171del (p.Met3057AsnfsTer7) n.11306_11307del n.3145+6722_3145+6723del n.3013+6722_3013+6723del | |
6 | g.51659096A= | CA1628438363 | PKHD1 | c.11030T= (p.Met3677=) c.10901T= (p.Met3634=) c.10892T= (p.Met3631=) c.10388T= (p.Met3463=) c.10319T= (p.Met3440=) c.10157-9876T= (n.10157-9876T=) c.5105T= (p.Met1702=) n.535+6723A= n.403+6723A= c.10955T= (p.Met3652=) c.10835T= (p.Met3612=) c.10766T= (p.Met3589=) c.9170T= (p.Met3057=) n.11306T= n.3145+6723A= n.3013+6723A= | |
6 | g.51659096A>C | CA364430450 | PKHD1 | c.11030T>G (p.Met3677Arg) c.10901T>G (p.Met3634Arg) c.10892T>G (p.Met3631Arg) c.10388T>G (p.Met3463Arg) c.10319T>G (p.Met3440Arg) c.10157-9876T>G (n.10157-9876T>G) c.5105T>G (p.Met1702Arg) n.535+6723A>C n.403+6723A>C c.10955T>G (p.Met3652Arg) c.10835T>G (p.Met3612Arg) c.10766T>G (p.Met3589Arg) c.9170T>G (p.Met3057Arg) n.11306T>G n.3145+6723A>C n.3013+6723A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659096A>G | CA364430453 | PKHD1 | c.11030T>C (p.Met3677Thr) c.10901T>C (p.Met3634Thr) c.10892T>C (p.Met3631Thr) c.10388T>C (p.Met3463Thr) c.10319T>C (p.Met3440Thr) c.10157-9876T>C (n.10157-9876T>C) c.5105T>C (p.Met1702Thr) n.535+6723A>G n.403+6723A>G c.10955T>C (p.Met3652Thr) c.10835T>C (p.Met3612Thr) c.10766T>C (p.Met3589Thr) c.9170T>C (p.Met3057Thr) n.11306T>C n.3145+6723A>G n.3013+6723A>G | |
6 | g.51659096A>T | CA364430455 | PKHD1 | c.11030T>A (p.Met3677Lys) c.10901T>A (p.Met3634Lys) c.10892T>A (p.Met3631Lys) c.10388T>A (p.Met3463Lys) c.10319T>A (p.Met3440Lys) c.10157-9876T>A (n.10157-9876T>A) c.5105T>A (p.Met1702Lys) n.535+6723A>T n.403+6723A>T c.10955T>A (p.Met3652Lys) c.10835T>A (p.Met3612Lys) c.10766T>A (p.Met3589Lys) c.9170T>A (p.Met3057Lys) n.11306T>A n.3145+6723A>T n.3013+6723A>T | |
6 | g.51659097T>A | CA364430465 | PKHD1 | c.11029A>T (p.Met3677Leu) c.10900A>T (p.Met3634Leu) c.10891A>T (p.Met3631Leu) c.10387A>T (p.Met3463Leu) c.10318A>T (p.Met3440Leu) c.10157-9877A>T (n.10157-9877A>T) c.5104A>T (p.Met1702Leu) n.535+6724T>A n.403+6724T>A c.10954A>T (p.Met3652Leu) c.10834A>T (p.Met3612Leu) c.10765A>T (p.Met3589Leu) c.9169A>T (p.Met3057Leu) n.11305A>T n.3145+6724T>A n.3013+6724T>A | |
6 | g.51659097T>C | CA364430460 | PKHD1 | c.11029A>G (p.Met3677Val) c.10900A>G (p.Met3634Val) c.10891A>G (p.Met3631Val) c.10387A>G (p.Met3463Val) c.10318A>G (p.Met3440Val) c.10157-9877A>G (n.10157-9877A>G) c.5104A>G (p.Met1702Val) n.535+6724T>C n.403+6724T>C c.10954A>G (p.Met3652Val) c.10834A>G (p.Met3612Val) c.10765A>G (p.Met3589Val) c.9169A>G (p.Met3057Val) n.11305A>G n.3145+6724T>C n.3013+6724T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659097T>G | CA364430459 | PKHD1 | c.11029A>C (p.Met3677Leu) c.10900A>C (p.Met3634Leu) c.10891A>C (p.Met3631Leu) c.10387A>C (p.Met3463Leu) c.10318A>C (p.Met3440Leu) c.10157-9877A>C (n.10157-9877A>C) c.5104A>C (p.Met1702Leu) n.535+6724T>G n.403+6724T>G c.10954A>C (p.Met3652Leu) c.10834A>C (p.Met3612Leu) c.10765A>C (p.Met3589Leu) c.9169A>C (p.Met3057Leu) n.11305A>C n.3145+6724T>G n.3013+6724T>G | gnomAD v4 |
6 | g.51659097T= | CA1628438366 | PKHD1 | c.11029A= (p.Met3677=) c.10900A= (p.Met3634=) c.10891A= (p.Met3631=) c.10387A= (p.Met3463=) c.10318A= (p.Met3440=) c.10157-9877A= (n.10157-9877A=) c.5104A= (p.Met1702=) n.535+6724T= n.403+6724T= c.10954A= (p.Met3652=) c.10834A= (p.Met3612=) c.10765A= (p.Met3589=) c.9169A= (p.Met3057=) n.11305A= n.3145+6724T= n.3013+6724T= | |
6 | g.51659097_51659098insGG | CA2507766895 | PKHD1 | c.11028_11029insCC (p.Met3677ProfsTer2) c.10899_10900insCC (p.Met3634ProfsTer2) c.10890_10891insCC (p.Met3631ProfsTer2) c.10386_10387insCC (p.Met3463ProfsTer2) c.10317_10318insCC (p.Met3440ProfsTer2) c.10157-9878_10157-9877insCC (n.10157-9878_10157-9877insCC) c.5103_5104insCC (p.Met1702ProfsTer2) n.535+6724_535+6725insGG n.403+6724_403+6725insGG c.10953_10954insCC (p.Met3652ProfsTer2) c.10833_10834insCC (p.Met3612ProfsTer2) c.10764_10765insCC (p.Met3589ProfsTer2) c.9168_9169insCC (p.Met3057ProfsTer2) n.11304_11305insCC n.3145+6724_3145+6725insGG n.3013+6724_3013+6725insGG | |
6 | g.51659098T>A | CA450612695 | PKHD1 | c.11028A>T (p.Gly3676=) c.10899A>T (p.Gly3633=) c.10890A>T (p.Gly3630=) c.10386A>T (p.Gly3462=) c.10317A>T (p.Gly3439=) c.10157-9878A>T (n.10157-9878A>T) c.5103A>T (p.Gly1701=) n.535+6725T>A n.403+6725T>A c.10953A>T (p.Gly3651=) c.10833A>T (p.Gly3611=) c.10764A>T (p.Gly3588=) c.9168A>T (p.Gly3056=) n.11304A>T n.3145+6725T>A n.3013+6725T>A | |
6 | g.51659098T>C | CA450612696 | PKHD1 | c.11028A>G (p.Gly3676=) c.10899A>G (p.Gly3633=) c.10890A>G (p.Gly3630=) c.10386A>G (p.Gly3462=) c.10317A>G (p.Gly3439=) c.10157-9878A>G (n.10157-9878A>G) c.5103A>G (p.Gly1701=) n.535+6725T>C n.403+6725T>C c.10953A>G (p.Gly3651=) c.10833A>G (p.Gly3611=) c.10764A>G (p.Gly3588=) c.9168A>G (p.Gly3056=) n.11304A>G n.3145+6725T>C n.3013+6725T>C | |
6 | g.51659098T>G | CA450612697 | PKHD1 | c.11028A>C (p.Gly3676=) c.10899A>C (p.Gly3633=) c.10890A>C (p.Gly3630=) c.10386A>C (p.Gly3462=) c.10317A>C (p.Gly3439=) c.10157-9878A>C (n.10157-9878A>C) c.5103A>C (p.Gly1701=) n.535+6725T>G n.403+6725T>G c.10953A>C (p.Gly3651=) c.10833A>C (p.Gly3611=) c.10764A>C (p.Gly3588=) c.9168A>C (p.Gly3056=) n.11304A>C n.3145+6725T>G n.3013+6725T>G | |
6 | g.51659099C>A | CA364430468 | PKHD1 | c.11027G>T (p.Gly3676Val) c.10898G>T (p.Gly3633Val) c.10889G>T (p.Gly3630Val) c.10385G>T (p.Gly3462Val) c.10316G>T (p.Gly3439Val) c.10157-9879G>T (n.10157-9879G>T) c.5102G>T (p.Gly1701Val) n.535+6726C>A n.403+6726C>A c.10952G>T (p.Gly3651Val) c.10832G>T (p.Gly3611Val) c.10763G>T (p.Gly3588Val) c.9167G>T (p.Gly3056Val) n.11303G>T n.3145+6726C>A n.3013+6726C>A | |
6 | g.51659099C= | CA1628438369 | PKHD1 | c.11027G= (p.Gly3676=) c.10898G= (p.Gly3633=) c.10889G= (p.Gly3630=) c.10385G= (p.Gly3462=) c.10316G= (p.Gly3439=) c.10157-9879G= (n.10157-9879G=) c.5102G= (p.Gly1701=) n.535+6726C= n.403+6726C= c.10952G= (p.Gly3651=) c.10832G= (p.Gly3611=) c.10763G= (p.Gly3588=) c.9167G= (p.Gly3056=) n.11303G= n.3145+6726C= n.3013+6726C= | |
6 | g.51659099C>G | CA364430471 | PKHD1 | c.11027G>C (p.Gly3676Ala) c.10898G>C (p.Gly3633Ala) c.10889G>C (p.Gly3630Ala) c.10385G>C (p.Gly3462Ala) c.10316G>C (p.Gly3439Ala) c.10157-9879G>C (n.10157-9879G>C) c.5102G>C (p.Gly1701Ala) n.535+6726C>G n.403+6726C>G c.10952G>C (p.Gly3651Ala) c.10832G>C (p.Gly3611Ala) c.10763G>C (p.Gly3588Ala) c.9167G>C (p.Gly3056Ala) n.11303G>C n.3145+6726C>G n.3013+6726C>G | |
6 | g.51659099C>T | CA364430475 | PKHD1 | c.11027G>A (p.Gly3676Glu) c.10898G>A (p.Gly3633Glu) c.10889G>A (p.Gly3630Glu) c.10385G>A (p.Gly3462Glu) c.10316G>A (p.Gly3439Glu) c.10157-9879G>A (n.10157-9879G>A) c.5102G>A (p.Gly1701Glu) n.535+6726C>T n.403+6726C>T c.10952G>A (p.Gly3651Glu) c.10832G>A (p.Gly3611Glu) c.10763G>A (p.Gly3588Glu) c.9167G>A (p.Gly3056Glu) n.11303G>A n.3145+6726C>T n.3013+6726C>T | dbSNP gnomAD v4 COSMIC |
6 | g.51659100C>A | CA364430477 | PKHD1 | c.11026G>T (p.Gly3676Ter) c.10897G>T (p.Gly3633Ter) c.10888G>T (p.Gly3630Ter) c.10384G>T (p.Gly3462Ter) c.10315G>T (p.Gly3439Ter) c.10157-9880G>T (n.10157-9880G>T) c.5101G>T (p.Gly1701Ter) n.535+6727C>A n.403+6727C>A c.10951G>T (p.Gly3651Ter) c.10831G>T (p.Gly3611Ter) c.10762G>T (p.Gly3588Ter) c.9166G>T (p.Gly3056Ter) n.11302G>T n.3145+6727C>A n.3013+6727C>A | ClinVar dbSNP gnomAD v4 |
6 | g.51659100C= | CA1628438376 | PKHD1 | c.11026G= (p.Gly3676=) c.10897G= (p.Gly3633=) c.10888G= (p.Gly3630=) c.10384G= (p.Gly3462=) c.10315G= (p.Gly3439=) c.10157-9880G= (n.10157-9880G=) c.5101G= (p.Gly1701=) n.535+6727C= n.403+6727C= c.10951G= (p.Gly3651=) c.10831G= (p.Gly3611=) c.10762G= (p.Gly3588=) c.9166G= (p.Gly3056=) n.11302G= n.3145+6727C= n.3013+6727C= | |
6 | g.51659100C>G | CA364430479 | PKHD1 | c.11026G>C (p.Gly3676Arg) c.10897G>C (p.Gly3633Arg) c.10888G>C (p.Gly3630Arg) c.10384G>C (p.Gly3462Arg) c.10315G>C (p.Gly3439Arg) c.10157-9880G>C (n.10157-9880G>C) c.5101G>C (p.Gly1701Arg) n.535+6727C>G n.403+6727C>G c.10951G>C (p.Gly3651Arg) c.10831G>C (p.Gly3611Arg) c.10762G>C (p.Gly3588Arg) c.9166G>C (p.Gly3056Arg) n.11302G>C n.3145+6727C>G n.3013+6727C>G | |
6 | g.51659100C>T | CA364430481 | PKHD1 | c.11026G>A (p.Gly3676Arg) c.10897G>A (p.Gly3633Arg) c.10888G>A (p.Gly3630Arg) c.10384G>A (p.Gly3462Arg) c.10315G>A (p.Gly3439Arg) c.10157-9880G>A (n.10157-9880G>A) c.5101G>A (p.Gly1701Arg) n.535+6727C>T n.403+6727C>T c.10951G>A (p.Gly3651Arg) c.10831G>A (p.Gly3611Arg) c.10762G>A (p.Gly3588Arg) c.9166G>A (p.Gly3056Arg) n.11302G>A n.3145+6727C>T n.3013+6727C>T | dbSNP gnomAD v4 |
6 | g.51659101A>C | CA450612698 | PKHD1 | c.11025T>G (p.Thr3675=) c.10896T>G (p.Thr3632=) c.10887T>G (p.Thr3629=) c.10383T>G (p.Thr3461=) c.10314T>G (p.Thr3438=) c.10157-9881T>G (n.10157-9881T>G) c.5100T>G (p.Thr1700=) n.535+6728A>C n.403+6728A>C c.10950T>G (p.Thr3650=) c.10830T>G (p.Thr3610=) c.10761T>G (p.Thr3587=) c.9165T>G (p.Thr3055=) n.11301T>G n.3145+6728A>C n.3013+6728A>C | |
6 | g.51659101A>G | CA450612699 | PKHD1 | c.11025T>C (p.Thr3675=) c.10896T>C (p.Thr3632=) c.10887T>C (p.Thr3629=) c.10383T>C (p.Thr3461=) c.10314T>C (p.Thr3438=) c.10157-9881T>C (n.10157-9881T>C) c.5100T>C (p.Thr1700=) n.535+6728A>G n.403+6728A>G c.10950T>C (p.Thr3650=) c.10830T>C (p.Thr3610=) c.10761T>C (p.Thr3587=) c.9165T>C (p.Thr3055=) n.11301T>C n.3145+6728A>G n.3013+6728A>G | |
6 | g.51659101A>T | CA450612700 | PKHD1 | c.11025T>A (p.Thr3675=) c.10896T>A (p.Thr3632=) c.10887T>A (p.Thr3629=) c.10383T>A (p.Thr3461=) c.10314T>A (p.Thr3438=) c.10157-9881T>A (n.10157-9881T>A) c.5100T>A (p.Thr1700=) n.535+6728A>T n.403+6728A>T c.10950T>A (p.Thr3650=) c.10830T>A (p.Thr3610=) c.10761T>A (p.Thr3587=) c.9165T>A (p.Thr3055=) n.11301T>A n.3145+6728A>T n.3013+6728A>T | |
6 | g.51659102G>A | CA364430484 | PKHD1 | c.11024C>T (p.Thr3675Ile) c.10895C>T (p.Thr3632Ile) c.10886C>T (p.Thr3629Ile) c.10382C>T (p.Thr3461Ile) c.10313C>T (p.Thr3438Ile) c.10157-9882C>T (n.10157-9882C>T) c.5099C>T (p.Thr1700Ile) n.535+6729G>A n.403+6729G>A c.10949C>T (p.Thr3650Ile) c.10829C>T (p.Thr3610Ile) c.10760C>T (p.Thr3587Ile) c.9164C>T (p.Thr3055Ile) n.11300C>T n.3145+6729G>A n.3013+6729G>A | gnomAD v4 |
6 | g.51659102G>C | CA364430486 | PKHD1 | c.11024C>G (p.Thr3675Ser) c.10895C>G (p.Thr3632Ser) c.10886C>G (p.Thr3629Ser) c.10382C>G (p.Thr3461Ser) c.10313C>G (p.Thr3438Ser) c.10157-9882C>G (n.10157-9882C>G) c.5099C>G (p.Thr1700Ser) n.535+6729G>C n.403+6729G>C c.10949C>G (p.Thr3650Ser) c.10829C>G (p.Thr3610Ser) c.10760C>G (p.Thr3587Ser) c.9164C>G (p.Thr3055Ser) n.11300C>G n.3145+6729G>C n.3013+6729G>C | |
6 | g.51659102G>T | CA364430489 | PKHD1 | c.11024C>A (p.Thr3675Asn) c.10895C>A (p.Thr3632Asn) c.10886C>A (p.Thr3629Asn) c.10382C>A (p.Thr3461Asn) c.10313C>A (p.Thr3438Asn) c.10157-9882C>A (n.10157-9882C>A) c.5099C>A (p.Thr1700Asn) n.535+6729G>T n.403+6729G>T c.10949C>A (p.Thr3650Asn) c.10829C>A (p.Thr3610Asn) c.10760C>A (p.Thr3587Asn) c.9164C>A (p.Thr3055Asn) n.11300C>A n.3145+6729G>T n.3013+6729G>T | |
6 | g.51659103T>A | CA364430493 | PKHD1 | c.11023A>T (p.Thr3675Ser) c.10894A>T (p.Thr3632Ser) c.10885A>T (p.Thr3629Ser) c.10381A>T (p.Thr3461Ser) c.10312A>T (p.Thr3438Ser) c.10157-9883A>T (n.10157-9883A>T) c.5098A>T (p.Thr1700Ser) n.535+6730T>A n.403+6730T>A c.10948A>T (p.Thr3650Ser) c.10828A>T (p.Thr3610Ser) c.10759A>T (p.Thr3587Ser) c.9163A>T (p.Thr3055Ser) n.11299A>T n.3145+6730T>A n.3013+6730T>A | |
6 | g.51659103T>C | CA364430496 | PKHD1 | c.11023A>G (p.Thr3675Ala) c.10894A>G (p.Thr3632Ala) c.10885A>G (p.Thr3629Ala) c.10381A>G (p.Thr3461Ala) c.10312A>G (p.Thr3438Ala) c.10157-9883A>G (n.10157-9883A>G) c.5098A>G (p.Thr1700Ala) n.535+6730T>C n.403+6730T>C c.10948A>G (p.Thr3650Ala) c.10828A>G (p.Thr3610Ala) c.10759A>G (p.Thr3587Ala) c.9163A>G (p.Thr3055Ala) n.11299A>G n.3145+6730T>C n.3013+6730T>C | |
6 | g.51659103T>G | CA364430499 | PKHD1 | c.11023A>C (p.Thr3675Pro) c.10894A>C (p.Thr3632Pro) c.10885A>C (p.Thr3629Pro) c.10381A>C (p.Thr3461Pro) c.10312A>C (p.Thr3438Pro) c.10157-9883A>C (n.10157-9883A>C) c.5098A>C (p.Thr1700Pro) n.535+6730T>G n.403+6730T>G c.10948A>C (p.Thr3650Pro) c.10828A>C (p.Thr3610Pro) c.10759A>C (p.Thr3587Pro) c.9163A>C (p.Thr3055Pro) n.11299A>C n.3145+6730T>G n.3013+6730T>G | |
6 | g.51659104G>A | CA450612701 | PKHD1 | c.11022C>T (p.Ser3674=) c.10893C>T (p.Ser3631=) c.10884C>T (p.Ser3628=) c.10380C>T (p.Ser3460=) c.10311C>T (p.Ser3437=) c.10157-9884C>T (n.10157-9884C>T) c.5097C>T (p.Ser1699=) n.535+6731G>A n.403+6731G>A c.10947C>T (p.Ser3649=) c.10827C>T (p.Ser3609=) c.10758C>T (p.Ser3586=) c.9162C>T (p.Ser3054=) n.11298C>T n.3145+6731G>A n.3013+6731G>A | ClinVar gnomAD v4 |
6 | g.51659104G>C | CA364430505 | PKHD1 | c.11022C>G (p.Ser3674Arg) c.10893C>G (p.Ser3631Arg) c.10884C>G (p.Ser3628Arg) c.10380C>G (p.Ser3460Arg) c.10311C>G (p.Ser3437Arg) c.10157-9884C>G (n.10157-9884C>G) c.5097C>G (p.Ser1699Arg) n.535+6731G>C n.403+6731G>C c.10947C>G (p.Ser3649Arg) c.10827C>G (p.Ser3609Arg) c.10758C>G (p.Ser3586Arg) c.9162C>G (p.Ser3054Arg) n.11298C>G n.3145+6731G>C n.3013+6731G>C | |
6 | g.51659104G= | CA1628438379 | PKHD1 | c.11022C= (p.Ser3674=) c.10893C= (p.Ser3631=) c.10884C= (p.Ser3628=) c.10380C= (p.Ser3460=) c.10311C= (p.Ser3437=) c.10157-9884C= (n.10157-9884C=) c.5097C= (p.Ser1699=) n.535+6731G= n.403+6731G= c.10947C= (p.Ser3649=) c.10827C= (p.Ser3609=) c.10758C= (p.Ser3586=) c.9162C= (p.Ser3054=) n.11298C= n.3145+6731G= n.3013+6731G= | |
6 | g.51659104G>T | CA364430502 | PKHD1 | c.11022C>A (p.Ser3674Arg) c.10893C>A (p.Ser3631Arg) c.10884C>A (p.Ser3628Arg) c.10380C>A (p.Ser3460Arg) c.10311C>A (p.Ser3437Arg) c.10157-9884C>A (n.10157-9884C>A) c.5097C>A (p.Ser1699Arg) n.535+6731G>T n.403+6731G>T c.10947C>A (p.Ser3649Arg) c.10827C>A (p.Ser3609Arg) c.10758C>A (p.Ser3586Arg) c.9162C>A (p.Ser3054Arg) n.11298C>A n.3145+6731G>T n.3013+6731G>T | dbSNP |
6 | g.51659105C>A | CA364430509 | PKHD1 | c.11021G>T (p.Ser3674Ile) c.10892G>T (p.Ser3631Ile) c.10883G>T (p.Ser3628Ile) c.10379G>T (p.Ser3460Ile) c.10310G>T (p.Ser3437Ile) c.10157-9885G>T (n.10157-9885G>T) c.5096G>T (p.Ser1699Ile) n.535+6732C>A n.403+6732C>A c.10946G>T (p.Ser3649Ile) c.10826G>T (p.Ser3609Ile) c.10757G>T (p.Ser3586Ile) c.9161G>T (p.Ser3054Ile) n.11297G>T n.3145+6732C>A n.3013+6732C>A | |
6 | g.51659105C= | CA1628438382 | PKHD1 | c.11021G= (p.Ser3674=) c.10892G= (p.Ser3631=) c.10883G= (p.Ser3628=) c.10379G= (p.Ser3460=) c.10310G= (p.Ser3437=) c.10157-9885G= (n.10157-9885G=) c.5096G= (p.Ser1699=) n.535+6732C= n.403+6732C= c.10946G= (p.Ser3649=) c.10826G= (p.Ser3609=) c.10757G= (p.Ser3586=) c.9161G= (p.Ser3054=) n.11297G= n.3145+6732C= n.3013+6732C= | |
6 | g.51659105C>G | CA364430512 | PKHD1 | c.11021G>C (p.Ser3674Thr) c.10892G>C (p.Ser3631Thr) c.10883G>C (p.Ser3628Thr) c.10379G>C (p.Ser3460Thr) c.10310G>C (p.Ser3437Thr) c.10157-9885G>C (n.10157-9885G>C) c.5096G>C (p.Ser1699Thr) n.535+6732C>G n.403+6732C>G c.10946G>C (p.Ser3649Thr) c.10826G>C (p.Ser3609Thr) c.10757G>C (p.Ser3586Thr) c.9161G>C (p.Ser3054Thr) n.11297G>C n.3145+6732C>G n.3013+6732C>G | |
6 | g.51659105C>T | CA364430514 | PKHD1 | c.11021G>A (p.Ser3674Asn) c.10892G>A (p.Ser3631Asn) c.10883G>A (p.Ser3628Asn) c.10379G>A (p.Ser3460Asn) c.10310G>A (p.Ser3437Asn) c.10157-9885G>A (n.10157-9885G>A) c.5096G>A (p.Ser1699Asn) n.535+6732C>T n.403+6732C>T c.10946G>A (p.Ser3649Asn) c.10826G>A (p.Ser3609Asn) c.10757G>A (p.Ser3586Asn) c.9161G>A (p.Ser3054Asn) n.11297G>A n.3145+6732C>T n.3013+6732C>T | dbSNP |
6 | g.51659106T>A | CA364430519 | PKHD1 | c.11020A>T (p.Ser3674Cys) c.10891A>T (p.Ser3631Cys) c.10882A>T (p.Ser3628Cys) c.10378A>T (p.Ser3460Cys) c.10309A>T (p.Ser3437Cys) c.10157-9886A>T (n.10157-9886A>T) c.5095A>T (p.Ser1699Cys) n.535+6733T>A n.403+6733T>A c.10945A>T (p.Ser3649Cys) c.10825A>T (p.Ser3609Cys) c.10756A>T (p.Ser3586Cys) c.9160A>T (p.Ser3054Cys) n.11296A>T n.3145+6733T>A n.3013+6733T>A | |
6 | g.51659106T>C | CA364430521 | PKHD1 | c.11020A>G (p.Ser3674Gly) c.10891A>G (p.Ser3631Gly) c.10882A>G (p.Ser3628Gly) c.10378A>G (p.Ser3460Gly) c.10309A>G (p.Ser3437Gly) c.10157-9886A>G (n.10157-9886A>G) c.5095A>G (p.Ser1699Gly) n.535+6733T>C n.403+6733T>C c.10945A>G (p.Ser3649Gly) c.10825A>G (p.Ser3609Gly) c.10756A>G (p.Ser3586Gly) c.9160A>G (p.Ser3054Gly) n.11296A>G n.3145+6733T>C n.3013+6733T>C | |
6 | g.51659106T>G | CA364430524 | PKHD1 | c.11020A>C (p.Ser3674Arg) c.10891A>C (p.Ser3631Arg) c.10882A>C (p.Ser3628Arg) c.10378A>C (p.Ser3460Arg) c.10309A>C (p.Ser3437Arg) c.10157-9886A>C (n.10157-9886A>C) c.5095A>C (p.Ser1699Arg) n.535+6733T>G n.403+6733T>G c.10945A>C (p.Ser3649Arg) c.10825A>C (p.Ser3609Arg) c.10756A>C (p.Ser3586Arg) c.9160A>C (p.Ser3054Arg) n.11296A>C n.3145+6733T>G n.3013+6733T>G | |
6 | g.51659107C>A | CA364430528 | PKHD1 | c.11019G>T (p.Arg3673Ser) c.10890G>T (p.Arg3630Ser) c.10881G>T (p.Arg3627Ser) c.10377G>T (p.Arg3459Ser) c.10308G>T (p.Arg3436Ser) c.10157-9887G>T (n.10157-9887G>T) c.5094G>T (p.Arg1698Ser) n.535+6734C>A n.403+6734C>A c.10944G>T (p.Arg3648Ser) c.10824G>T (p.Arg3608Ser) c.10755G>T (p.Arg3585Ser) c.9159G>T (p.Arg3053Ser) n.11295G>T n.3145+6734C>A n.3013+6734C>A | |
6 | g.51659107C>G | CA364430529 | PKHD1 | c.11019G>C (p.Arg3673Ser) c.10890G>C (p.Arg3630Ser) c.10881G>C (p.Arg3627Ser) c.10377G>C (p.Arg3459Ser) c.10308G>C (p.Arg3436Ser) c.10157-9887G>C (n.10157-9887G>C) c.5094G>C (p.Arg1698Ser) n.535+6734C>G n.403+6734C>G c.10944G>C (p.Arg3648Ser) c.10824G>C (p.Arg3608Ser) c.10755G>C (p.Arg3585Ser) c.9159G>C (p.Arg3053Ser) n.11295G>C n.3145+6734C>G n.3013+6734C>G | |
6 | g.51659107C>T | CA450612702 | PKHD1 | c.11019G>A (p.Arg3673=) c.10890G>A (p.Arg3630=) c.10881G>A (p.Arg3627=) c.10377G>A (p.Arg3459=) c.10308G>A (p.Arg3436=) c.10157-9887G>A (n.10157-9887G>A) c.5094G>A (p.Arg1698=) n.535+6734C>T n.403+6734C>T c.10944G>A (p.Arg3648=) c.10824G>A (p.Arg3608=) c.10755G>A (p.Arg3585=) c.9159G>A (p.Arg3053=) n.11295G>A n.3145+6734C>T n.3013+6734C>T | |
6 | g.51659108C>A | CA364430532 | PKHD1 | c.11018G>T (p.Arg3673Met) c.10889G>T (p.Arg3630Met) c.10880G>T (p.Arg3627Met) c.10376G>T (p.Arg3459Met) c.10307G>T (p.Arg3436Met) c.10157-9888G>T (n.10157-9888G>T) c.5093G>T (p.Arg1698Met) n.535+6735C>A n.403+6735C>A c.10943G>T (p.Arg3648Met) c.10823G>T (p.Arg3608Met) c.10754G>T (p.Arg3585Met) c.9158G>T (p.Arg3053Met) n.11294G>T n.3145+6735C>A n.3013+6735C>A | |
6 | g.51659108C= | CA1628438384 | PKHD1 | c.11018G= (p.Arg3673=) c.10889G= (p.Arg3630=) c.10880G= (p.Arg3627=) c.10376G= (p.Arg3459=) c.10307G= (p.Arg3436=) c.10157-9888G= (n.10157-9888G=) c.5093G= (p.Arg1698=) n.535+6735C= n.403+6735C= c.10943G= (p.Arg3648=) c.10823G= (p.Arg3608=) c.10754G= (p.Arg3585=) c.9158G= (p.Arg3053=) n.11294G= n.3145+6735C= n.3013+6735C= | |
6 | g.51659108C>G | CA364430534 | PKHD1 | c.11018G>C (p.Arg3673Thr) c.10889G>C (p.Arg3630Thr) c.10880G>C (p.Arg3627Thr) c.10376G>C (p.Arg3459Thr) c.10307G>C (p.Arg3436Thr) c.10157-9888G>C (n.10157-9888G>C) c.5093G>C (p.Arg1698Thr) n.535+6735C>G n.403+6735C>G c.10943G>C (p.Arg3648Thr) c.10823G>C (p.Arg3608Thr) c.10754G>C (p.Arg3585Thr) c.9158G>C (p.Arg3053Thr) n.11294G>C n.3145+6735C>G n.3013+6735C>G | |
6 | g.51659108C>T | CA3850969 | PKHD1 | c.11018G>A (p.Arg3673Lys) c.10889G>A (p.Arg3630Lys) c.10880G>A (p.Arg3627Lys) c.10376G>A (p.Arg3459Lys) c.10307G>A (p.Arg3436Lys) c.10157-9888G>A (n.10157-9888G>A) c.5093G>A (p.Arg1698Lys) n.535+6735C>T n.403+6735C>T c.10943G>A (p.Arg3648Lys) c.10823G>A (p.Arg3608Lys) c.10754G>A (p.Arg3585Lys) c.9158G>A (p.Arg3053Lys) n.11294G>A n.3145+6735C>T n.3013+6735C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659109T>A | CA364430542 | PKHD1 | c.11017A>T (p.Arg3673Trp) c.10888A>T (p.Arg3630Trp) c.10879A>T (p.Arg3627Trp) c.10375A>T (p.Arg3459Trp) c.10306A>T (p.Arg3436Trp) c.10157-9889A>T (n.10157-9889A>T) c.5092A>T (p.Arg1698Trp) n.535+6736T>A n.403+6736T>A c.10942A>T (p.Arg3648Trp) c.10822A>T (p.Arg3608Trp) c.10753A>T (p.Arg3585Trp) c.9157A>T (p.Arg3053Trp) n.11293A>T n.3145+6736T>A n.3013+6736T>A | |
6 | g.51659109T>C | CA364430545 | PKHD1 | c.11017A>G (p.Arg3673Gly) c.10888A>G (p.Arg3630Gly) c.10879A>G (p.Arg3627Gly) c.10375A>G (p.Arg3459Gly) c.10306A>G (p.Arg3436Gly) c.10157-9889A>G (n.10157-9889A>G) c.5092A>G (p.Arg1698Gly) n.535+6736T>C n.403+6736T>C c.10942A>G (p.Arg3648Gly) c.10822A>G (p.Arg3608Gly) c.10753A>G (p.Arg3585Gly) c.9157A>G (p.Arg3053Gly) n.11293A>G n.3145+6736T>C n.3013+6736T>C | gnomAD v4 |
6 | g.51659109T>G | CA450612703 | PKHD1 | c.11017A>C (p.Arg3673=) c.10888A>C (p.Arg3630=) c.10879A>C (p.Arg3627=) c.10375A>C (p.Arg3459=) c.10306A>C (p.Arg3436=) c.10157-9889A>C (n.10157-9889A>C) c.5092A>C (p.Arg1698=) n.535+6736T>G n.403+6736T>G c.10942A>C (p.Arg3648=) c.10822A>C (p.Arg3608=) c.10753A>C (p.Arg3585=) c.9157A>C (p.Arg3053=) n.11293A>C n.3145+6736T>G n.3013+6736T>G | |
6 | g.51659110T>A | CA450612704 | PKHD1 | c.11016A>T (p.Val3672=) c.10887A>T (p.Val3629=) c.10878A>T (p.Val3626=) c.10374A>T (p.Val3458=) c.10305A>T (p.Val3435=) c.10157-9890A>T (n.10157-9890A>T) c.5091A>T (p.Val1697=) n.535+6737T>A n.403+6737T>A c.10941A>T (p.Val3647=) c.10821A>T (p.Val3607=) c.10752A>T (p.Val3584=) c.9156A>T (p.Val3052=) n.11292A>T n.3145+6737T>A n.3013+6737T>A | |
6 | g.51659110T>C | CA450612705 | PKHD1 | c.11016A>G (p.Val3672=) c.10887A>G (p.Val3629=) c.10878A>G (p.Val3626=) c.10374A>G (p.Val3458=) c.10305A>G (p.Val3435=) c.10157-9890A>G (n.10157-9890A>G) c.5091A>G (p.Val1697=) n.535+6737T>C n.403+6737T>C c.10941A>G (p.Val3647=) c.10821A>G (p.Val3607=) c.10752A>G (p.Val3584=) c.9156A>G (p.Val3052=) n.11292A>G n.3145+6737T>C n.3013+6737T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659110T>G | CA450612706 | PKHD1 | c.11016A>C (p.Val3672=) c.10887A>C (p.Val3629=) c.10878A>C (p.Val3626=) c.10374A>C (p.Val3458=) c.10305A>C (p.Val3435=) c.10157-9890A>C (n.10157-9890A>C) c.5091A>C (p.Val1697=) n.535+6737T>G n.403+6737T>G c.10941A>C (p.Val3647=) c.10821A>C (p.Val3607=) c.10752A>C (p.Val3584=) c.9156A>C (p.Val3052=) n.11292A>C n.3145+6737T>G n.3013+6737T>G | |
6 | g.51659110T= | CA1628438387 | PKHD1 | c.11016A= (p.Val3672=) c.10887A= (p.Val3629=) c.10878A= (p.Val3626=) c.10374A= (p.Val3458=) c.10305A= (p.Val3435=) c.10157-9890A= (n.10157-9890A=) c.5091A= (p.Val1697=) n.535+6737T= n.403+6737T= c.10941A= (p.Val3647=) c.10821A= (p.Val3607=) c.10752A= (p.Val3584=) c.9156A= (p.Val3052=) n.11292A= n.3145+6737T= n.3013+6737T= | |
6 | g.51659111A>C | CA364430549 | PKHD1 | c.11015T>G (p.Val3672Gly) c.10886T>G (p.Val3629Gly) c.10877T>G (p.Val3626Gly) c.10373T>G (p.Val3458Gly) c.10304T>G (p.Val3435Gly) c.10157-9891T>G (n.10157-9891T>G) c.5090T>G (p.Val1697Gly) n.535+6738A>C n.403+6738A>C c.10940T>G (p.Val3647Gly) c.10820T>G (p.Val3607Gly) c.10751T>G (p.Val3584Gly) c.9155T>G (p.Val3052Gly) n.11291T>G n.3145+6738A>C n.3013+6738A>C | |
6 | g.51659111A>G | CA364430554 | PKHD1 | c.11015T>C (p.Val3672Ala) c.10886T>C (p.Val3629Ala) c.10877T>C (p.Val3626Ala) c.10373T>C (p.Val3458Ala) c.10304T>C (p.Val3435Ala) c.10157-9891T>C (n.10157-9891T>C) c.5090T>C (p.Val1697Ala) n.535+6738A>G n.403+6738A>G c.10940T>C (p.Val3647Ala) c.10820T>C (p.Val3607Ala) c.10751T>C (p.Val3584Ala) c.9155T>C (p.Val3052Ala) n.11291T>C n.3145+6738A>G n.3013+6738A>G | |
6 | g.51659111A>T | CA364430548 | PKHD1 | c.11015T>A (p.Val3672Glu) c.10886T>A (p.Val3629Glu) c.10877T>A (p.Val3626Glu) c.10373T>A (p.Val3458Glu) c.10304T>A (p.Val3435Glu) c.10157-9891T>A (n.10157-9891T>A) c.5090T>A (p.Val1697Glu) n.535+6738A>T n.403+6738A>T c.10940T>A (p.Val3647Glu) c.10820T>A (p.Val3607Glu) c.10751T>A (p.Val3584Glu) c.9155T>A (p.Val3052Glu) n.11291T>A n.3145+6738A>T n.3013+6738A>T | |
6 | g.51659112C>A | CA364430559 | PKHD1 | c.11014G>T (p.Val3672Leu) c.10885G>T (p.Val3629Leu) c.10876G>T (p.Val3626Leu) c.10372G>T (p.Val3458Leu) c.10303G>T (p.Val3435Leu) c.10157-9892G>T (n.10157-9892G>T) c.5089G>T (p.Val1697Leu) n.535+6739C>A n.403+6739C>A c.10939G>T (p.Val3647Leu) c.10819G>T (p.Val3607Leu) c.10750G>T (p.Val3584Leu) c.9154G>T (p.Val3052Leu) n.11290G>T n.3145+6739C>A n.3013+6739C>A | |
6 | g.51659112C>G | CA364430561 | PKHD1 | c.11014G>C (p.Val3672Leu) c.10885G>C (p.Val3629Leu) c.10876G>C (p.Val3626Leu) c.10372G>C (p.Val3458Leu) c.10303G>C (p.Val3435Leu) c.10157-9892G>C (n.10157-9892G>C) c.5089G>C (p.Val1697Leu) n.535+6739C>G n.403+6739C>G c.10939G>C (p.Val3647Leu) c.10819G>C (p.Val3607Leu) c.10750G>C (p.Val3584Leu) c.9154G>C (p.Val3052Leu) n.11290G>C n.3145+6739C>G n.3013+6739C>G | |
6 | g.51659112C>T | CA364430564 | PKHD1 | c.11014G>A (p.Val3672Ile) c.10885G>A (p.Val3629Ile) c.10876G>A (p.Val3626Ile) c.10372G>A (p.Val3458Ile) c.10303G>A (p.Val3435Ile) c.10157-9892G>A (n.10157-9892G>A) c.5089G>A (p.Val1697Ile) n.535+6739C>T n.403+6739C>T c.10939G>A (p.Val3647Ile) c.10819G>A (p.Val3607Ile) c.10750G>A (p.Val3584Ile) c.9154G>A (p.Val3052Ile) n.11290G>A n.3145+6739C>T n.3013+6739C>T | |
6 | g.51659113T>A | CA450612707 | PKHD1 | c.11013A>T (p.Thr3671=) c.10884A>T (p.Thr3628=) c.10875A>T (p.Thr3625=) c.10371A>T (p.Thr3457=) c.10302A>T (p.Thr3434=) c.10157-9893A>T (n.10157-9893A>T) c.5088A>T (p.Thr1696=) n.535+6740T>A n.403+6740T>A c.10938A>T (p.Thr3646=) c.10818A>T (p.Thr3606=) c.10749A>T (p.Thr3583=) c.9153A>T (p.Thr3051=) n.11289A>T n.3145+6740T>A n.3013+6740T>A | ClinVar |
6 | g.51659113T>C | CA450612708 | PKHD1 | c.11013A>G (p.Thr3671=) c.10884A>G (p.Thr3628=) c.10875A>G (p.Thr3625=) c.10371A>G (p.Thr3457=) c.10302A>G (p.Thr3434=) c.10157-9893A>G (n.10157-9893A>G) c.5088A>G (p.Thr1696=) n.535+6740T>C n.403+6740T>C c.10938A>G (p.Thr3646=) c.10818A>G (p.Thr3606=) c.10749A>G (p.Thr3583=) c.9153A>G (p.Thr3051=) n.11289A>G n.3145+6740T>C n.3013+6740T>C | |
6 | g.51659113T>G | CA450612709 | PKHD1 | c.11013A>C (p.Thr3671=) c.10884A>C (p.Thr3628=) c.10875A>C (p.Thr3625=) c.10371A>C (p.Thr3457=) c.10302A>C (p.Thr3434=) c.10157-9893A>C (n.10157-9893A>C) c.5088A>C (p.Thr1696=) n.535+6740T>G n.403+6740T>G c.10938A>C (p.Thr3646=) c.10818A>C (p.Thr3606=) c.10749A>C (p.Thr3583=) c.9153A>C (p.Thr3051=) n.11289A>C n.3145+6740T>G n.3013+6740T>G | |
6 | g.51659114G>A | CA364430565 | PKHD1 | c.11012C>T (p.Thr3671Ile) c.10883C>T (p.Thr3628Ile) c.10874C>T (p.Thr3625Ile) c.10370C>T (p.Thr3457Ile) c.10301C>T (p.Thr3434Ile) c.10157-9894C>T (n.10157-9894C>T) c.5087C>T (p.Thr1696Ile) n.535+6741G>A n.403+6741G>A c.10937C>T (p.Thr3646Ile) c.10817C>T (p.Thr3606Ile) c.10748C>T (p.Thr3583Ile) c.9152C>T (p.Thr3051Ile) n.11288C>T n.3145+6741G>A n.3013+6741G>A | |
6 | g.51659114G>C | CA364430566 | PKHD1 | c.11012C>G (p.Thr3671Arg) c.10883C>G (p.Thr3628Arg) c.10874C>G (p.Thr3625Arg) c.10370C>G (p.Thr3457Arg) c.10301C>G (p.Thr3434Arg) c.10157-9894C>G (n.10157-9894C>G) c.5087C>G (p.Thr1696Arg) n.535+6741G>C n.403+6741G>C c.10937C>G (p.Thr3646Arg) c.10817C>G (p.Thr3606Arg) c.10748C>G (p.Thr3583Arg) c.9152C>G (p.Thr3051Arg) n.11288C>G n.3145+6741G>C n.3013+6741G>C | |
6 | g.51659114G>T | CA364430567 | PKHD1 | c.11012C>A (p.Thr3671Lys) c.10883C>A (p.Thr3628Lys) c.10874C>A (p.Thr3625Lys) c.10370C>A (p.Thr3457Lys) c.10301C>A (p.Thr3434Lys) c.10157-9894C>A (n.10157-9894C>A) c.5087C>A (p.Thr1696Lys) n.535+6741G>T n.403+6741G>T c.10937C>A (p.Thr3646Lys) c.10817C>A (p.Thr3606Lys) c.10748C>A (p.Thr3583Lys) c.9152C>A (p.Thr3051Lys) n.11288C>A n.3145+6741G>T n.3013+6741G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51659115T>A | CA364430568 | PKHD1 | c.11011A>T (p.Thr3671Ser) c.10882A>T (p.Thr3628Ser) c.10873A>T (p.Thr3625Ser) c.10369A>T (p.Thr3457Ser) c.10300A>T (p.Thr3434Ser) c.10157-9895A>T (n.10157-9895A>T) c.5086A>T (p.Thr1696Ser) n.535+6742T>A n.403+6742T>A c.10936A>T (p.Thr3646Ser) c.10816A>T (p.Thr3606Ser) c.10747A>T (p.Thr3583Ser) c.9151A>T (p.Thr3051Ser) n.11287A>T n.3145+6742T>A n.3013+6742T>A | |
6 | g.51659115T>C | CA364430569 | PKHD1 | c.11011A>G (p.Thr3671Ala) c.10882A>G (p.Thr3628Ala) c.10873A>G (p.Thr3625Ala) c.10369A>G (p.Thr3457Ala) c.10300A>G (p.Thr3434Ala) c.10157-9895A>G (n.10157-9895A>G) c.5086A>G (p.Thr1696Ala) n.535+6742T>C n.403+6742T>C c.10936A>G (p.Thr3646Ala) c.10816A>G (p.Thr3606Ala) c.10747A>G (p.Thr3583Ala) c.9151A>G (p.Thr3051Ala) n.11287A>G n.3145+6742T>C n.3013+6742T>C | gnomAD v4 |
6 | g.51659115T>G | CA364430571 | PKHD1 | c.11011A>C (p.Thr3671Pro) c.10882A>C (p.Thr3628Pro) c.10873A>C (p.Thr3625Pro) c.10369A>C (p.Thr3457Pro) c.10300A>C (p.Thr3434Pro) c.10157-9895A>C (n.10157-9895A>C) c.5086A>C (p.Thr1696Pro) n.535+6742T>G n.403+6742T>G c.10936A>C (p.Thr3646Pro) c.10816A>C (p.Thr3606Pro) c.10747A>C (p.Thr3583Pro) c.9151A>C (p.Thr3051Pro) n.11287A>C n.3145+6742T>G n.3013+6742T>G | |
6 | g.51659116T>A | CA450612711 | PKHD1 | c.11010A>T (p.Pro3670=) c.10881A>T (p.Pro3627=) c.10872A>T (p.Pro3624=) c.10368A>T (p.Pro3456=) c.10299A>T (p.Pro3433=) c.10157-9896A>T (n.10157-9896A>T) c.5085A>T (p.Pro1695=) n.535+6743T>A n.403+6743T>A c.10935A>T (p.Pro3645=) c.10815A>T (p.Pro3605=) c.10746A>T (p.Pro3582=) c.9150A>T (p.Pro3050=) n.11286A>T n.3145+6743T>A n.3013+6743T>A | |
6 | g.51659116T>C | CA450612712 | PKHD1 | c.11010A>G (p.Pro3670=) c.10881A>G (p.Pro3627=) c.10872A>G (p.Pro3624=) c.10368A>G (p.Pro3456=) c.10299A>G (p.Pro3433=) c.10157-9896A>G (n.10157-9896A>G) c.5085A>G (p.Pro1695=) n.535+6743T>C n.403+6743T>C c.10935A>G (p.Pro3645=) c.10815A>G (p.Pro3605=) c.10746A>G (p.Pro3582=) c.9150A>G (p.Pro3050=) n.11286A>G n.3145+6743T>C n.3013+6743T>C | ClinVar |
6 | g.51659116T>G | CA450612710 | PKHD1 | c.11010A>C (p.Pro3670=) c.10881A>C (p.Pro3627=) c.10872A>C (p.Pro3624=) c.10368A>C (p.Pro3456=) c.10299A>C (p.Pro3433=) c.10157-9896A>C (n.10157-9896A>C) c.5085A>C (p.Pro1695=) n.535+6743T>G n.403+6743T>G c.10935A>C (p.Pro3645=) c.10815A>C (p.Pro3605=) c.10746A>C (p.Pro3582=) c.9150A>C (p.Pro3050=) n.11286A>C n.3145+6743T>G n.3013+6743T>G | |
6 | g.51659117G>A | CA3850970 | PKHD1 | c.11009C>T (p.Pro3670Leu) c.10880C>T (p.Pro3627Leu) c.10871C>T (p.Pro3624Leu) c.10367C>T (p.Pro3456Leu) c.10298C>T (p.Pro3433Leu) c.10157-9897C>T (n.10157-9897C>T) c.5084C>T (p.Pro1695Leu) n.535+6744G>A n.403+6744G>A c.10934C>T (p.Pro3645Leu) c.10814C>T (p.Pro3605Leu) c.10745C>T (p.Pro3582Leu) c.9149C>T (p.Pro3050Leu) n.11285C>T n.3145+6744G>A n.3013+6744G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659117G>C | CA364430576 | PKHD1 | c.11009C>G (p.Pro3670Arg) c.10880C>G (p.Pro3627Arg) c.10871C>G (p.Pro3624Arg) c.10367C>G (p.Pro3456Arg) c.10298C>G (p.Pro3433Arg) c.10157-9897C>G (n.10157-9897C>G) c.5084C>G (p.Pro1695Arg) n.535+6744G>C n.403+6744G>C c.10934C>G (p.Pro3645Arg) c.10814C>G (p.Pro3605Arg) c.10745C>G (p.Pro3582Arg) c.9149C>G (p.Pro3050Arg) n.11285C>G n.3145+6744G>C n.3013+6744G>C | |
6 | g.51659117G= | CA1628438391 | PKHD1 | c.11009C= (p.Pro3670=) c.10880C= (p.Pro3627=) c.10871C= (p.Pro3624=) c.10367C= (p.Pro3456=) c.10298C= (p.Pro3433=) c.10157-9897C= (n.10157-9897C=) c.5084C= (p.Pro1695=) n.535+6744G= n.403+6744G= c.10934C= (p.Pro3645=) c.10814C= (p.Pro3605=) c.10745C= (p.Pro3582=) c.9149C= (p.Pro3050=) n.11285C= n.3145+6744G= n.3013+6744G= | |
6 | g.51659117G>T | CA364430579 | PKHD1 | c.11009C>A (p.Pro3670Gln) c.10880C>A (p.Pro3627Gln) c.10871C>A (p.Pro3624Gln) c.10367C>A (p.Pro3456Gln) c.10298C>A (p.Pro3433Gln) c.10157-9897C>A (n.10157-9897C>A) c.5084C>A (p.Pro1695Gln) n.535+6744G>T n.403+6744G>T c.10934C>A (p.Pro3645Gln) c.10814C>A (p.Pro3605Gln) c.10745C>A (p.Pro3582Gln) c.9149C>A (p.Pro3050Gln) n.11285C>A n.3145+6744G>T n.3013+6744G>T | |
6 | g.51659118G>A | CA3850971 | PKHD1 | c.11008C>T (p.Pro3670Ser) c.10879C>T (p.Pro3627Ser) c.10870C>T (p.Pro3624Ser) c.10366C>T (p.Pro3456Ser) c.10297C>T (p.Pro3433Ser) c.10157-9898C>T (n.10157-9898C>T) c.5083C>T (p.Pro1695Ser) n.535+6745G>A n.403+6745G>A c.10933C>T (p.Pro3645Ser) c.10813C>T (p.Pro3605Ser) c.10744C>T (p.Pro3582Ser) c.9148C>T (p.Pro3050Ser) n.11284C>T n.3145+6745G>A n.3013+6745G>A | dbSNP ExAC |
6 | g.51659118G>C | CA364430584 | PKHD1 | c.11008C>G (p.Pro3670Ala) c.10879C>G (p.Pro3627Ala) c.10870C>G (p.Pro3624Ala) c.10366C>G (p.Pro3456Ala) c.10297C>G (p.Pro3433Ala) c.10157-9898C>G (n.10157-9898C>G) c.5083C>G (p.Pro1695Ala) n.535+6745G>C n.403+6745G>C c.10933C>G (p.Pro3645Ala) c.10813C>G (p.Pro3605Ala) c.10744C>G (p.Pro3582Ala) c.9148C>G (p.Pro3050Ala) n.11284C>G n.3145+6745G>C n.3013+6745G>C | |
6 | g.51659118G= | CA1628438394 | PKHD1 | c.11008C= (p.Pro3670=) c.10879C= (p.Pro3627=) c.10870C= (p.Pro3624=) c.10366C= (p.Pro3456=) c.10297C= (p.Pro3433=) c.10157-9898C= (n.10157-9898C=) c.5083C= (p.Pro1695=) n.535+6745G= n.403+6745G= c.10933C= (p.Pro3645=) c.10813C= (p.Pro3605=) c.10744C= (p.Pro3582=) c.9148C= (p.Pro3050=) n.11284C= n.3145+6745G= n.3013+6745G= | |
6 | g.51659118G>T | CA364430592 | PKHD1 | c.11008C>A (p.Pro3670Thr) c.10879C>A (p.Pro3627Thr) c.10870C>A (p.Pro3624Thr) c.10366C>A (p.Pro3456Thr) c.10297C>A (p.Pro3433Thr) c.10157-9898C>A (n.10157-9898C>A) c.5083C>A (p.Pro1695Thr) n.535+6745G>T n.403+6745G>T c.10933C>A (p.Pro3645Thr) c.10813C>A (p.Pro3605Thr) c.10744C>A (p.Pro3582Thr) c.9148C>A (p.Pro3050Thr) n.11284C>A n.3145+6745G>T n.3013+6745G>T | dbSNP gnomAD v2 |
6 | g.51659119C>A | CA450612713 | PKHD1 | c.11007G>T (p.Ser3669=) c.10878G>T (p.Ser3626=) c.10869G>T (p.Ser3623=) c.10365G>T (p.Ser3455=) c.10296G>T (p.Ser3432=) c.10157-9899G>T (n.10157-9899G>T) c.5082G>T (p.Ser1694=) n.535+6746C>A n.403+6746C>A c.10932G>T (p.Ser3644=) c.10812G>T (p.Ser3604=) c.10743G>T (p.Ser3581=) c.9147G>T (p.Ser3049=) n.11283G>T n.3145+6746C>A n.3013+6746C>A | |
6 | g.51659119C= | CA1628438399 | PKHD1 | c.11007G= (p.Ser3669=) c.10878G= (p.Ser3626=) c.10869G= (p.Ser3623=) c.10365G= (p.Ser3455=) c.10296G= (p.Ser3432=) c.10157-9899G= (n.10157-9899G=) c.5082G= (p.Ser1694=) n.535+6746C= n.403+6746C= c.10932G= (p.Ser3644=) c.10812G= (p.Ser3604=) c.10743G= (p.Ser3581=) c.9147G= (p.Ser3049=) n.11283G= n.3145+6746C= n.3013+6746C= | |
6 | g.51659119C>G | CA450612714 | PKHD1 | c.11007G>C (p.Ser3669=) c.10878G>C (p.Ser3626=) c.10869G>C (p.Ser3623=) c.10365G>C (p.Ser3455=) c.10296G>C (p.Ser3432=) c.10157-9899G>C (n.10157-9899G>C) c.5082G>C (p.Ser1694=) n.535+6746C>G n.403+6746C>G c.10932G>C (p.Ser3644=) c.10812G>C (p.Ser3604=) c.10743G>C (p.Ser3581=) c.9147G>C (p.Ser3049=) n.11283G>C n.3145+6746C>G n.3013+6746C>G | |
6 | g.51659119C>T | CA3850972 | PKHD1 | c.11007G>A (p.Ser3669=) c.10878G>A (p.Ser3626=) c.10869G>A (p.Ser3623=) c.10365G>A (p.Ser3455=) c.10296G>A (p.Ser3432=) c.10157-9899G>A (n.10157-9899G>A) c.5082G>A (p.Ser1694=) n.535+6746C>T n.403+6746C>T c.10932G>A (p.Ser3644=) c.10812G>A (p.Ser3604=) c.10743G>A (p.Ser3581=) c.9147G>A (p.Ser3049=) n.11283G>A n.3145+6746C>T n.3013+6746C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.51659120G>A | CA3850973 | PKHD1 | c.11006C>T (p.Ser3669Leu) c.10877C>T (p.Ser3626Leu) c.10868C>T (p.Ser3623Leu) c.10364C>T (p.Ser3455Leu) c.10295C>T (p.Ser3432Leu) c.10157-9900C>T (n.10157-9900C>T) c.5081C>T (p.Ser1694Leu) n.535+6747G>A n.403+6747G>A c.10931C>T (p.Ser3644Leu) c.10811C>T (p.Ser3604Leu) c.10742C>T (p.Ser3581Leu) c.9146C>T (p.Ser3049Leu) n.11282C>T n.3145+6747G>A n.3013+6747G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.51659120G>C | CA364430598 | PKHD1 | c.11006C>G (p.Ser3669Trp) c.10877C>G (p.Ser3626Trp) c.10868C>G (p.Ser3623Trp) c.10364C>G (p.Ser3455Trp) c.10295C>G (p.Ser3432Trp) c.10157-9900C>G (n.10157-9900C>G) c.5081C>G (p.Ser1694Trp) n.535+6747G>C n.403+6747G>C c.10931C>G (p.Ser3644Trp) c.10811C>G (p.Ser3604Trp) c.10742C>G (p.Ser3581Trp) c.9146C>G (p.Ser3049Trp) n.11282C>G n.3145+6747G>C n.3013+6747G>C | |
6 | g.51659120G= | CA1628438405 | PKHD1 | c.11006C= (p.Ser3669=) c.10877C= (p.Ser3626=) c.10868C= (p.Ser3623=) c.10364C= (p.Ser3455=) c.10295C= (p.Ser3432=) c.10157-9900C= (n.10157-9900C=) c.5081C= (p.Ser1694=) n.535+6747G= n.403+6747G= c.10931C= (p.Ser3644=) c.10811C= (p.Ser3604=) c.10742C= (p.Ser3581=) c.9146C= (p.Ser3049=) n.11282C= n.3145+6747G= n.3013+6747G= | |
6 | g.51659120G>T | CA364430601 | PKHD1 | c.11006C>A (p.Ser3669Ter) c.10877C>A (p.Ser3626Ter) c.10868C>A (p.Ser3623Ter) c.10364C>A (p.Ser3455Ter) c.10295C>A (p.Ser3432Ter) c.10157-9900C>A (n.10157-9900C>A) c.5081C>A (p.Ser1694Ter) n.535+6747G>T n.403+6747G>T c.10931C>A (p.Ser3644Ter) c.10811C>A (p.Ser3604Ter) c.10742C>A (p.Ser3581Ter) c.9146C>A (p.Ser3049Ter) n.11282C>A n.3145+6747G>T n.3013+6747G>T | |
6 | g.51659121A>C | CA364430604 | PKHD1 | c.11005T>G (p.Ser3669Ala) c.10876T>G (p.Ser3626Ala) c.10867T>G (p.Ser3623Ala) c.10363T>G (p.Ser3455Ala) c.10294T>G (p.Ser3432Ala) c.10157-9901T>G (n.10157-9901T>G) c.5080T>G (p.Ser1694Ala) n.535+6748A>C n.403+6748A>C c.10930T>G (p.Ser3644Ala) c.10810T>G (p.Ser3604Ala) c.10741T>G (p.Ser3581Ala) c.9145T>G (p.Ser3049Ala) n.11281T>G n.3145+6748A>C n.3013+6748A>C | |
6 | g.51659121A>G | CA364430606 | PKHD1 | c.11005T>C (p.Ser3669Pro) c.10876T>C (p.Ser3626Pro) c.10867T>C (p.Ser3623Pro) c.10363T>C (p.Ser3455Pro) c.10294T>C (p.Ser3432Pro) c.10157-9901T>C (n.10157-9901T>C) c.5080T>C (p.Ser1694Pro) n.535+6748A>G n.403+6748A>G c.10930T>C (p.Ser3644Pro) c.10810T>C (p.Ser3604Pro) c.10741T>C (p.Ser3581Pro) c.9145T>C (p.Ser3049Pro) n.11281T>C n.3145+6748A>G n.3013+6748A>G | |
6 | g.51659121A>T | CA364430609 | PKHD1 | c.11005T>A (p.Ser3669Thr) c.10876T>A (p.Ser3626Thr) c.10867T>A (p.Ser3623Thr) c.10363T>A (p.Ser3455Thr) c.10294T>A (p.Ser3432Thr) c.10157-9901T>A (n.10157-9901T>A) c.5080T>A (p.Ser1694Thr) n.535+6748A>T n.403+6748A>T c.10930T>A (p.Ser3644Thr) c.10810T>A (p.Ser3604Thr) c.10741T>A (p.Ser3581Thr) c.9145T>A (p.Ser3049Thr) n.11281T>A n.3145+6748A>T n.3013+6748A>T | |
6 | g.51659121_51659124delinsAATC | CA1628438408 | PKHD1 | c.11002_11005delinsGATT (p.Asp3668=) c.10873_10876delinsGATT (p.Asp3625=) c.10864_10867delinsGATT (p.Asp3622=) c.10360_10363delinsGATT (p.Asp3454=) c.10291_10294delinsGATT (p.Asp3431=) c.10157-9904_10157-9901delinsGATT (n.10157-9904_10157-9901delinsGATT) c.5077_5080delinsGATT (p.Asp1693=) n.535+6748_535+6751delinsAATC n.403+6748_403+6751delinsAATC c.10927_10930delinsGATT (p.Asp3643=) c.10807_10810delinsGATT (p.Asp3603=) c.10738_10741delinsGATT (p.Asp3580=) c.9142_9145delinsGATT (p.Asp3048=) n.11278_11281delinsGATT n.3145+6748_3145+6751delinsAATC n.3013+6748_3013+6751delinsAATC | |
6 | g.51659122A>C | CA364430612 | PKHD1 | c.11004T>G (p.Asp3668Glu) c.10875T>G (p.Asp3625Glu) c.10866T>G (p.Asp3622Glu) c.10362T>G (p.Asp3454Glu) c.10293T>G (p.Asp3431Glu) c.10157-9902T>G (n.10157-9902T>G) c.5079T>G (p.Asp1693Glu) n.535+6749A>C n.403+6749A>C c.10929T>G (p.Asp3643Glu) c.10809T>G (p.Asp3603Glu) c.10740T>G (p.Asp3580Glu) c.9144T>G (p.Asp3048Glu) n.11280T>G n.3145+6749A>C n.3013+6749A>C | |
6 | g.51659122A>G | CA450612715 | PKHD1 | c.11004T>C (p.Asp3668=) c.10875T>C (p.Asp3625=) c.10866T>C (p.Asp3622=) c.10362T>C (p.Asp3454=) c.10293T>C (p.Asp3431=) c.10157-9902T>C (n.10157-9902T>C) c.5079T>C (p.Asp1693=) n.535+6749A>G n.403+6749A>G c.10929T>C (p.Asp3643=) c.10809T>C (p.Asp3603=) c.10740T>C (p.Asp3580=) c.9144T>C (p.Asp3048=) n.11280T>C n.3145+6749A>G n.3013+6749A>G | ClinVar gnomAD v4 |
6 | g.51659122A>T | CA364430614 | PKHD1 | c.11004T>A (p.Asp3668Glu) c.10875T>A (p.Asp3625Glu) c.10866T>A (p.Asp3622Glu) c.10362T>A (p.Asp3454Glu) c.10293T>A (p.Asp3431Glu) c.10157-9902T>A (n.10157-9902T>A) c.5079T>A (p.Asp1693Glu) n.535+6749A>T n.403+6749A>T c.10929T>A (p.Asp3643Glu) c.10809T>A (p.Asp3603Glu) c.10740T>A (p.Asp3580Glu) c.9144T>A (p.Asp3048Glu) n.11280T>A n.3145+6749A>T n.3013+6749A>T | |
6 | g.51659123_51659125del | CA1628438411 | PKHD1 | c.11002_11004del (p.Asp3668del) c.10873_10875del (p.Asp3625del) c.10864_10866del (p.Asp3622del) c.10360_10362del (p.Asp3454del) c.10291_10293del (p.Asp3431del) c.10157-9904_10157-9902del (n.10157-9904_10157-9902del) c.5077_5079del (p.Asp1693del) n.535+6750_535+6752del n.403+6750_403+6752del c.10927_10929del (p.Asp3643del) c.10807_10809del (p.Asp3603del) c.10738_10740del (p.Asp3580del) c.9142_9144del (p.Asp3048del) n.11278_11280del n.3145+6750_3145+6752del n.3013+6750_3013+6752del | dbSNP |
6 | g.51659123T>A | CA3850974 | PKHD1 | c.11003A>T (p.Asp3668Val) c.10874A>T (p.Asp3625Val) c.10865A>T (p.Asp3622Val) c.10361A>T (p.Asp3454Val) c.10292A>T (p.Asp3431Val) c.10157-9903A>T (n.10157-9903A>T) c.5078A>T (p.Asp1693Val) n.535+6750T>A n.403+6750T>A c.10928A>T (p.Asp3643Val) c.10808A>T (p.Asp3603Val) c.10739A>T (p.Asp3580Val) c.9143A>T (p.Asp3048Val) n.11279A>T n.3145+6750T>A n.3013+6750T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659123T>C | CA364430620 | PKHD1 | c.11003A>G (p.Asp3668Gly) c.10874A>G (p.Asp3625Gly) c.10865A>G (p.Asp3622Gly) c.10361A>G (p.Asp3454Gly) c.10292A>G (p.Asp3431Gly) c.10157-9903A>G (n.10157-9903A>G) c.5078A>G (p.Asp1693Gly) n.535+6750T>C n.403+6750T>C c.10928A>G (p.Asp3643Gly) c.10808A>G (p.Asp3603Gly) c.10739A>G (p.Asp3580Gly) c.9143A>G (p.Asp3048Gly) n.11279A>G n.3145+6750T>C n.3013+6750T>C | |
6 | g.51659123T>G | CA364430622 | PKHD1 | c.11003A>C (p.Asp3668Ala) c.10874A>C (p.Asp3625Ala) c.10865A>C (p.Asp3622Ala) c.10361A>C (p.Asp3454Ala) c.10292A>C (p.Asp3431Ala) c.10157-9903A>C (n.10157-9903A>C) c.5078A>C (p.Asp1693Ala) n.535+6750T>G n.403+6750T>G c.10928A>C (p.Asp3643Ala) c.10808A>C (p.Asp3603Ala) c.10739A>C (p.Asp3580Ala) c.9143A>C (p.Asp3048Ala) n.11279A>C n.3145+6750T>G n.3013+6750T>G | |
6 | g.51659123T= | CA1628438414 | PKHD1 | c.11003A= (p.Asp3668=) c.10874A= (p.Asp3625=) c.10865A= (p.Asp3622=) c.10361A= (p.Asp3454=) c.10292A= (p.Asp3431=) c.10157-9903A= (n.10157-9903A=) c.5078A= (p.Asp1693=) n.535+6750T= n.403+6750T= c.10928A= (p.Asp3643=) c.10808A= (p.Asp3603=) c.10739A= (p.Asp3580=) c.9143A= (p.Asp3048=) n.11279A= n.3145+6750T= n.3013+6750T= | |
6 | g.51659124C>A | CA3850975 | PKHD1 | c.11002G>T (p.Asp3668Tyr) c.10873G>T (p.Asp3625Tyr) c.10864G>T (p.Asp3622Tyr) c.10360G>T (p.Asp3454Tyr) c.10291G>T (p.Asp3431Tyr) c.10157-9904G>T (n.10157-9904G>T) c.5077G>T (p.Asp1693Tyr) n.535+6751C>A n.403+6751C>A c.10927G>T (p.Asp3643Tyr) c.10807G>T (p.Asp3603Tyr) c.10738G>T (p.Asp3580Tyr) c.9142G>T (p.Asp3048Tyr) n.11278G>T n.3145+6751C>A n.3013+6751C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659124C= | CA1628438420 | PKHD1 | c.11002G= (p.Asp3668=) c.10873G= (p.Asp3625=) c.10864G= (p.Asp3622=) c.10360G= (p.Asp3454=) c.10291G= (p.Asp3431=) c.10157-9904G= (n.10157-9904G=) c.5077G= (p.Asp1693=) n.535+6751C= n.403+6751C= c.10927G= (p.Asp3643=) c.10807G= (p.Asp3603=) c.10738G= (p.Asp3580=) c.9142G= (p.Asp3048=) n.11278G= n.3145+6751C= n.3013+6751C= | |
6 | g.51659124C>G | CA364430628 | PKHD1 | c.11002G>C (p.Asp3668His) c.10873G>C (p.Asp3625His) c.10864G>C (p.Asp3622His) c.10360G>C (p.Asp3454His) c.10291G>C (p.Asp3431His) c.10157-9904G>C (n.10157-9904G>C) c.5077G>C (p.Asp1693His) n.535+6751C>G n.403+6751C>G c.10927G>C (p.Asp3643His) c.10807G>C (p.Asp3603His) c.10738G>C (p.Asp3580His) c.9142G>C (p.Asp3048His) n.11278G>C n.3145+6751C>G n.3013+6751C>G | |
6 | g.51659124C>T | CA364430634 | PKHD1 | c.11002G>A (p.Asp3668Asn) c.10873G>A (p.Asp3625Asn) c.10864G>A (p.Asp3622Asn) c.10360G>A (p.Asp3454Asn) c.10291G>A (p.Asp3431Asn) c.10157-9904G>A (n.10157-9904G>A) c.5077G>A (p.Asp1693Asn) n.535+6751C>T n.403+6751C>T c.10927G>A (p.Asp3643Asn) c.10807G>A (p.Asp3603Asn) c.10738G>A (p.Asp3580Asn) c.9142G>A (p.Asp3048Asn) n.11278G>A n.3145+6751C>T n.3013+6751C>T | |
6 | g.51659125A>C | CA450612716 | PKHD1 | c.11001T>G (p.Gly3667=) c.10872T>G (p.Gly3624=) c.10863T>G (p.Gly3621=) c.10359T>G (p.Gly3453=) c.10290T>G (p.Gly3430=) c.10157-9905T>G (n.10157-9905T>G) c.5076T>G (p.Gly1692=) n.535+6752A>C n.403+6752A>C c.10926T>G (p.Gly3642=) c.10806T>G (p.Gly3602=) c.10737T>G (p.Gly3579=) c.9141T>G (p.Gly3047=) n.11277T>G n.3145+6752A>C n.3013+6752A>C | |
6 | g.51659125A>G | CA450612717 | PKHD1 | c.11001T>C (p.Gly3667=) c.10872T>C (p.Gly3624=) c.10863T>C (p.Gly3621=) c.10359T>C (p.Gly3453=) c.10290T>C (p.Gly3430=) c.10157-9905T>C (n.10157-9905T>C) c.5076T>C (p.Gly1692=) n.535+6752A>G n.403+6752A>G c.10926T>C (p.Gly3642=) c.10806T>C (p.Gly3602=) c.10737T>C (p.Gly3579=) c.9141T>C (p.Gly3047=) n.11277T>C n.3145+6752A>G n.3013+6752A>G | |
6 | g.51659125A>T | CA450612718 | PKHD1 | c.11001T>A (p.Gly3667=) c.10872T>A (p.Gly3624=) c.10863T>A (p.Gly3621=) c.10359T>A (p.Gly3453=) c.10290T>A (p.Gly3430=) c.10157-9905T>A (n.10157-9905T>A) c.5076T>A (p.Gly1692=) n.535+6752A>T n.403+6752A>T c.10926T>A (p.Gly3642=) c.10806T>A (p.Gly3602=) c.10737T>A (p.Gly3579=) c.9141T>A (p.Gly3047=) n.11277T>A n.3145+6752A>T n.3013+6752A>T | |
6 | g.51659126C>A | CA364430636 | PKHD1 | c.11000G>T (p.Gly3667Val) c.10871G>T (p.Gly3624Val) c.10862G>T (p.Gly3621Val) c.10358G>T (p.Gly3453Val) c.10289G>T (p.Gly3430Val) c.10157-9906G>T (n.10157-9906G>T) c.5075G>T (p.Gly1692Val) n.535+6753C>A n.403+6753C>A c.10925G>T (p.Gly3642Val) c.10805G>T (p.Gly3602Val) c.10736G>T (p.Gly3579Val) c.9140G>T (p.Gly3047Val) n.11276G>T n.3145+6753C>A n.3013+6753C>A | |
6 | g.51659126C= | CA1628438424 | PKHD1 | c.11000G= (p.Gly3667=) c.10871G= (p.Gly3624=) c.10862G= (p.Gly3621=) c.10358G= (p.Gly3453=) c.10289G= (p.Gly3430=) c.10157-9906G= (n.10157-9906G=) c.5075G= (p.Gly1692=) n.535+6753C= n.403+6753C= c.10925G= (p.Gly3642=) c.10805G= (p.Gly3602=) c.10736G= (p.Gly3579=) c.9140G= (p.Gly3047=) n.11276G= n.3145+6753C= n.3013+6753C= | |
6 | g.51659126C>G | CA3850976 | PKHD1 | c.11000G>C (p.Gly3667Ala) c.10871G>C (p.Gly3624Ala) c.10862G>C (p.Gly3621Ala) c.10358G>C (p.Gly3453Ala) c.10289G>C (p.Gly3430Ala) c.10157-9906G>C (n.10157-9906G>C) c.5075G>C (p.Gly1692Ala) n.535+6753C>G n.403+6753C>G c.10925G>C (p.Gly3642Ala) c.10805G>C (p.Gly3602Ala) c.10736G>C (p.Gly3579Ala) c.9140G>C (p.Gly3047Ala) n.11276G>C n.3145+6753C>G n.3013+6753C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659126C>T | CA364430637 | PKHD1 | c.11000G>A (p.Gly3667Asp) c.10871G>A (p.Gly3624Asp) c.10862G>A (p.Gly3621Asp) c.10358G>A (p.Gly3453Asp) c.10289G>A (p.Gly3430Asp) c.10157-9906G>A (n.10157-9906G>A) c.5075G>A (p.Gly1692Asp) n.535+6753C>T n.403+6753C>T c.10925G>A (p.Gly3642Asp) c.10805G>A (p.Gly3602Asp) c.10736G>A (p.Gly3579Asp) c.9140G>A (p.Gly3047Asp) n.11276G>A n.3145+6753C>T n.3013+6753C>T | |
6 | g.51659127C>A | CA364430642 | PKHD1 | c.10999G>T (p.Gly3667Cys) c.10870G>T (p.Gly3624Cys) c.10861G>T (p.Gly3621Cys) c.10357G>T (p.Gly3453Cys) c.10288G>T (p.Gly3430Cys) c.10157-9907G>T (n.10157-9907G>T) c.5074G>T (p.Gly1692Cys) n.535+6754C>A n.403+6754C>A c.10924G>T (p.Gly3642Cys) c.10804G>T (p.Gly3602Cys) c.10735G>T (p.Gly3579Cys) c.9139G>T (p.Gly3047Cys) n.11275G>T n.3145+6754C>A n.3013+6754C>A | |
6 | g.51659127C>G | CA364430646 | PKHD1 | c.10999G>C (p.Gly3667Arg) c.10870G>C (p.Gly3624Arg) c.10861G>C (p.Gly3621Arg) c.10357G>C (p.Gly3453Arg) c.10288G>C (p.Gly3430Arg) c.10157-9907G>C (n.10157-9907G>C) c.5074G>C (p.Gly1692Arg) n.535+6754C>G n.403+6754C>G c.10924G>C (p.Gly3642Arg) c.10804G>C (p.Gly3602Arg) c.10735G>C (p.Gly3579Arg) c.9139G>C (p.Gly3047Arg) n.11275G>C n.3145+6754C>G n.3013+6754C>G | |
6 | g.51659127C>T | CA364430648 | PKHD1 | c.10999G>A (p.Gly3667Ser) c.10870G>A (p.Gly3624Ser) c.10861G>A (p.Gly3621Ser) c.10357G>A (p.Gly3453Ser) c.10288G>A (p.Gly3430Ser) c.10157-9907G>A (n.10157-9907G>A) c.5074G>A (p.Gly1692Ser) n.535+6754C>T n.403+6754C>T c.10924G>A (p.Gly3642Ser) c.10804G>A (p.Gly3602Ser) c.10735G>A (p.Gly3579Ser) c.9139G>A (p.Gly3047Ser) n.11275G>A n.3145+6754C>T n.3013+6754C>T | |
6 | g.51659127_51659128delinsCA | CA1628438427 | PKHD1 | c.10998_10999delinsTG (p.Ile3666=) c.10869_10870delinsTG (p.Ile3623=) c.10860_10861delinsTG (p.Ile3620=) c.10356_10357delinsTG (p.Ile3452=) c.10287_10288delinsTG (p.Ile3429=) c.10157-9908_10157-9907delinsTG (n.10157-9908_10157-9907delinsTG) c.5073_5074delinsTG (p.Ile1691=) n.535+6754_535+6755delinsCA n.403+6754_403+6755delinsCA c.10923_10924delinsTG (p.Ile3641=) c.10803_10804delinsTG (p.Ile3601=) c.10734_10735delinsTG (p.Ile3578=) c.9138_9139delinsTG (p.Ile3046=) n.11274_11275delinsTG n.3145+6754_3145+6755delinsCA n.3013+6754_3013+6755delinsCA | |
6 | g.51659128A= | CA1628438434 | PKHD1 | c.10998T= (p.Ile3666=) c.10869T= (p.Ile3623=) c.10860T= (p.Ile3620=) c.10356T= (p.Ile3452=) c.10287T= (p.Ile3429=) c.10157-9908T= (n.10157-9908T=) c.5073T= (p.Ile1691=) n.535+6755A= n.403+6755A= c.10923T= (p.Ile3641=) c.10803T= (p.Ile3601=) c.10734T= (p.Ile3578=) c.9138T= (p.Ile3046=) n.11274T= n.3145+6755A= n.3013+6755A= | |
6 | g.51659128A>C | CA364430651 | PKHD1 | c.10998T>G (p.Ile3666Met) c.10869T>G (p.Ile3623Met) c.10860T>G (p.Ile3620Met) c.10356T>G (p.Ile3452Met) c.10287T>G (p.Ile3429Met) c.10157-9908T>G (n.10157-9908T>G) c.5073T>G (p.Ile1691Met) n.535+6755A>C n.403+6755A>C c.10923T>G (p.Ile3641Met) c.10803T>G (p.Ile3601Met) c.10734T>G (p.Ile3578Met) c.9138T>G (p.Ile3046Met) n.11274T>G n.3145+6755A>C n.3013+6755A>C | |
6 | g.51659128A>G | CA450612719 | PKHD1 | c.10998T>C (p.Ile3666=) c.10869T>C (p.Ile3623=) c.10860T>C (p.Ile3620=) c.10356T>C (p.Ile3452=) c.10287T>C (p.Ile3429=) c.10157-9908T>C (n.10157-9908T>C) c.5073T>C (p.Ile1691=) n.535+6755A>G n.403+6755A>G c.10923T>C (p.Ile3641=) c.10803T>C (p.Ile3601=) c.10734T>C (p.Ile3578=) c.9138T>C (p.Ile3046=) n.11274T>C n.3145+6755A>G n.3013+6755A>G | dbSNP gnomAD v2 |
6 | g.51659128A>T | CA450612720 | PKHD1 | c.10998T>A (p.Ile3666=) c.10869T>A (p.Ile3623=) c.10860T>A (p.Ile3620=) c.10356T>A (p.Ile3452=) c.10287T>A (p.Ile3429=) c.10157-9908T>A (n.10157-9908T>A) c.5073T>A (p.Ile1691=) n.535+6755A>T n.403+6755A>T c.10923T>A (p.Ile3641=) c.10803T>A (p.Ile3601=) c.10734T>A (p.Ile3578=) c.9138T>A (p.Ile3046=) n.11274T>A n.3145+6755A>T n.3013+6755A>T | |
6 | g.51659129del | CA658796775 | PKHD1 | c.10998del (p.Ile3666MetfsTer7) c.10869del (p.Ile3623MetfsTer7) c.10860del (p.Ile3620MetfsTer7) c.10356del (p.Ile3452MetfsTer7) c.10287del (p.Ile3429MetfsTer7) c.10157-9908del (n.10157-9908del) c.5073del (p.Ile1691MetfsTer7) n.535+6756del n.403+6756del c.10923del (p.Ile3641MetfsTer7) c.10803del (p.Ile3601MetfsTer7) c.10734del (p.Ile3578MetfsTer7) c.9138del (p.Ile3046MetfsTer7) n.11274del n.3145+6756del n.3013+6756del | ClinVar dbSNP |
6 | g.51659129A= | CA1628438438 | PKHD1 | c.10997T= (p.Ile3666=) c.10868T= (p.Ile3623=) c.10859T= (p.Ile3620=) c.10355T= (p.Ile3452=) c.10286T= (p.Ile3429=) c.10157-9909T= (n.10157-9909T=) c.5072T= (p.Ile1691=) n.535+6756A= n.403+6756A= c.10922T= (p.Ile3641=) c.10802T= (p.Ile3601=) c.10733T= (p.Ile3578=) c.9137T= (p.Ile3046=) n.11273T= n.3145+6756A= n.3013+6756A= | |
6 | g.51659129A>C | CA364430654 | PKHD1 | c.10997T>G (p.Ile3666Ser) c.10868T>G (p.Ile3623Ser) c.10859T>G (p.Ile3620Ser) c.10355T>G (p.Ile3452Ser) c.10286T>G (p.Ile3429Ser) c.10157-9909T>G (n.10157-9909T>G) c.5072T>G (p.Ile1691Ser) n.535+6756A>C n.403+6756A>C c.10922T>G (p.Ile3641Ser) c.10802T>G (p.Ile3601Ser) c.10733T>G (p.Ile3578Ser) c.9137T>G (p.Ile3046Ser) n.11273T>G n.3145+6756A>C n.3013+6756A>C | gnomAD v4 |
6 | g.51659129A>G | CA3850977 | PKHD1 | c.10997T>C (p.Ile3666Thr) c.10868T>C (p.Ile3623Thr) c.10859T>C (p.Ile3620Thr) c.10355T>C (p.Ile3452Thr) c.10286T>C (p.Ile3429Thr) c.10157-9909T>C (n.10157-9909T>C) c.5072T>C (p.Ile1691Thr) n.535+6756A>G n.403+6756A>G c.10922T>C (p.Ile3641Thr) c.10802T>C (p.Ile3601Thr) c.10733T>C (p.Ile3578Thr) c.9137T>C (p.Ile3046Thr) n.11273T>C n.3145+6756A>G n.3013+6756A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659129A>T | CA364430661 | PKHD1 | c.10997T>A (p.Ile3666Asn) c.10868T>A (p.Ile3623Asn) c.10859T>A (p.Ile3620Asn) c.10355T>A (p.Ile3452Asn) c.10286T>A (p.Ile3429Asn) c.10157-9909T>A (n.10157-9909T>A) c.5072T>A (p.Ile1691Asn) n.535+6756A>T n.403+6756A>T c.10922T>A (p.Ile3641Asn) c.10802T>A (p.Ile3601Asn) c.10733T>A (p.Ile3578Asn) c.9137T>A (p.Ile3046Asn) n.11273T>A n.3145+6756A>T n.3013+6756A>T | |
6 | g.51659130T>A | CA364430670 | PKHD1 | c.10996A>T (p.Ile3666Phe) c.10867A>T (p.Ile3623Phe) c.10858A>T (p.Ile3620Phe) c.10354A>T (p.Ile3452Phe) c.10285A>T (p.Ile3429Phe) c.10157-9910A>T (n.10157-9910A>T) c.5071A>T (p.Ile1691Phe) n.535+6757T>A n.403+6757T>A c.10921A>T (p.Ile3641Phe) c.10801A>T (p.Ile3601Phe) c.10732A>T (p.Ile3578Phe) c.9136A>T (p.Ile3046Phe) n.11272A>T n.3145+6757T>A n.3013+6757T>A | |
6 | g.51659130T>C | CA364430672 | PKHD1 | c.10996A>G (p.Ile3666Val) c.10867A>G (p.Ile3623Val) c.10858A>G (p.Ile3620Val) c.10354A>G (p.Ile3452Val) c.10285A>G (p.Ile3429Val) c.10157-9910A>G (n.10157-9910A>G) c.5071A>G (p.Ile1691Val) n.535+6757T>C n.403+6757T>C c.10921A>G (p.Ile3641Val) c.10801A>G (p.Ile3601Val) c.10732A>G (p.Ile3578Val) c.9136A>G (p.Ile3046Val) n.11272A>G n.3145+6757T>C n.3013+6757T>C | |
6 | g.51659130T>G | CA364430674 | PKHD1 | c.10996A>C (p.Ile3666Leu) c.10867A>C (p.Ile3623Leu) c.10858A>C (p.Ile3620Leu) c.10354A>C (p.Ile3452Leu) c.10285A>C (p.Ile3429Leu) c.10157-9910A>C (n.10157-9910A>C) c.5071A>C (p.Ile1691Leu) n.535+6757T>G n.403+6757T>G c.10921A>C (p.Ile3641Leu) c.10801A>C (p.Ile3601Leu) c.10732A>C (p.Ile3578Leu) c.9136A>C (p.Ile3046Leu) n.11272A>C n.3145+6757T>G n.3013+6757T>G | |
6 | g.51659131T>A | CA364430677 | PKHD1 | c.10995A>T (p.Glu3665Asp) c.10866A>T (p.Glu3622Asp) c.10857A>T (p.Glu3619Asp) c.10353A>T (p.Glu3451Asp) c.10284A>T (p.Glu3428Asp) c.10157-9911A>T (n.10157-9911A>T) c.5070A>T (p.Glu1690Asp) n.535+6758T>A n.403+6758T>A c.10920A>T (p.Glu3640Asp) c.10800A>T (p.Glu3600Asp) c.10731A>T (p.Glu3577Asp) c.9135A>T (p.Glu3045Asp) n.11271A>T n.3145+6758T>A n.3013+6758T>A | |
6 | g.51659131T>C | CA450612721 | PKHD1 | c.10995A>G (p.Glu3665=) c.10866A>G (p.Glu3622=) c.10857A>G (p.Glu3619=) c.10353A>G (p.Glu3451=) c.10284A>G (p.Glu3428=) c.10157-9911A>G (n.10157-9911A>G) c.5070A>G (p.Glu1690=) n.535+6758T>C n.403+6758T>C c.10920A>G (p.Glu3640=) c.10800A>G (p.Glu3600=) c.10731A>G (p.Glu3577=) c.9135A>G (p.Glu3045=) n.11271A>G n.3145+6758T>C n.3013+6758T>C | gnomAD v4 |
6 | g.51659131T>G | CA364430685 | PKHD1 | c.10995A>C (p.Glu3665Asp) c.10866A>C (p.Glu3622Asp) c.10857A>C (p.Glu3619Asp) c.10353A>C (p.Glu3451Asp) c.10284A>C (p.Glu3428Asp) c.10157-9911A>C (n.10157-9911A>C) c.5070A>C (p.Glu1690Asp) n.535+6758T>G n.403+6758T>G c.10920A>C (p.Glu3640Asp) c.10800A>C (p.Glu3600Asp) c.10731A>C (p.Glu3577Asp) c.9135A>C (p.Glu3045Asp) n.11271A>C n.3145+6758T>G n.3013+6758T>G | |
6 | g.51659132T>A | CA364430698 | PKHD1 | c.10994A>T (p.Glu3665Val) c.10865A>T (p.Glu3622Val) c.10856A>T (p.Glu3619Val) c.10352A>T (p.Glu3451Val) c.10283A>T (p.Glu3428Val) c.10157-9912A>T (n.10157-9912A>T) c.5069A>T (p.Glu1690Val) n.535+6759T>A n.403+6759T>A c.10919A>T (p.Glu3640Val) c.10799A>T (p.Glu3600Val) c.10730A>T (p.Glu3577Val) c.9134A>T (p.Glu3045Val) n.11270A>T n.3145+6759T>A n.3013+6759T>A | |
6 | g.51659132T>C | CA364430694 | PKHD1 | c.10994A>G (p.Glu3665Gly) c.10865A>G (p.Glu3622Gly) c.10856A>G (p.Glu3619Gly) c.10352A>G (p.Glu3451Gly) c.10283A>G (p.Glu3428Gly) c.10157-9912A>G (n.10157-9912A>G) c.5069A>G (p.Glu1690Gly) n.535+6759T>C n.403+6759T>C c.10919A>G (p.Glu3640Gly) c.10799A>G (p.Glu3600Gly) c.10730A>G (p.Glu3577Gly) c.9134A>G (p.Glu3045Gly) n.11270A>G n.3145+6759T>C n.3013+6759T>C | |
6 | g.51659132T>G | CA364430691 | PKHD1 | c.10994A>C (p.Glu3665Ala) c.10865A>C (p.Glu3622Ala) c.10856A>C (p.Glu3619Ala) c.10352A>C (p.Glu3451Ala) c.10283A>C (p.Glu3428Ala) c.10157-9912A>C (n.10157-9912A>C) c.5069A>C (p.Glu1690Ala) n.535+6759T>G n.403+6759T>G c.10919A>C (p.Glu3640Ala) c.10799A>C (p.Glu3600Ala) c.10730A>C (p.Glu3577Ala) c.9134A>C (p.Glu3045Ala) n.11270A>C n.3145+6759T>G n.3013+6759T>G | |
6 | g.51659133C>A | CA364430701 | PKHD1 | c.10993G>T (p.Glu3665Ter) c.10864G>T (p.Glu3622Ter) c.10855G>T (p.Glu3619Ter) c.10351G>T (p.Glu3451Ter) c.10282G>T (p.Glu3428Ter) c.10157-9913G>T (n.10157-9913G>T) c.5068G>T (p.Glu1690Ter) n.535+6760C>A n.403+6760C>A c.10918G>T (p.Glu3640Ter) c.10798G>T (p.Glu3600Ter) c.10729G>T (p.Glu3577Ter) c.9133G>T (p.Glu3045Ter) n.11269G>T n.3145+6760C>A n.3013+6760C>A | |
6 | g.51659133C>G | CA364430702 | PKHD1 | c.10993G>C (p.Glu3665Gln) c.10864G>C (p.Glu3622Gln) c.10855G>C (p.Glu3619Gln) c.10351G>C (p.Glu3451Gln) c.10282G>C (p.Glu3428Gln) c.10157-9913G>C (n.10157-9913G>C) c.5068G>C (p.Glu1690Gln) n.535+6760C>G n.403+6760C>G c.10918G>C (p.Glu3640Gln) c.10798G>C (p.Glu3600Gln) c.10729G>C (p.Glu3577Gln) c.9133G>C (p.Glu3045Gln) n.11269G>C n.3145+6760C>G n.3013+6760C>G | |
6 | g.51659133C>T | CA364430703 | PKHD1 | c.10993G>A (p.Glu3665Lys) c.10864G>A (p.Glu3622Lys) c.10855G>A (p.Glu3619Lys) c.10351G>A (p.Glu3451Lys) c.10282G>A (p.Glu3428Lys) c.10157-9913G>A (n.10157-9913G>A) c.5068G>A (p.Glu1690Lys) n.535+6760C>T n.403+6760C>T c.10918G>A (p.Glu3640Lys) c.10798G>A (p.Glu3600Lys) c.10729G>A (p.Glu3577Lys) c.9133G>A (p.Glu3045Lys) n.11269G>A n.3145+6760C>T n.3013+6760C>T | COSMIC |
6 | g.51659134A>C | CA364430705 | PKHD1 | c.10992T>G (p.Ile3664Met) c.10863T>G (p.Ile3621Met) c.10854T>G (p.Ile3618Met) c.10350T>G (p.Ile3450Met) c.10281T>G (p.Ile3427Met) c.10157-9914T>G (n.10157-9914T>G) c.5067T>G (p.Ile1689Met) n.535+6761A>C n.403+6761A>C c.10917T>G (p.Ile3639Met) c.10797T>G (p.Ile3599Met) c.10728T>G (p.Ile3576Met) c.9132T>G (p.Ile3044Met) n.11268T>G n.3145+6761A>C n.3013+6761A>C | dbSNP |
6 | g.51659134A>G | CA450612722 | PKHD1 | c.10992T>C (p.Ile3664=) c.10863T>C (p.Ile3621=) c.10854T>C (p.Ile3618=) c.10350T>C (p.Ile3450=) c.10281T>C (p.Ile3427=) c.10157-9914T>C (n.10157-9914T>C) c.5067T>C (p.Ile1689=) n.535+6761A>G n.403+6761A>G c.10917T>C (p.Ile3639=) c.10797T>C (p.Ile3599=) c.10728T>C (p.Ile3576=) c.9132T>C (p.Ile3044=) n.11268T>C n.3145+6761A>G n.3013+6761A>G | ClinVar |
6 | g.51659134A>T | CA450612724 | PKHD1 | c.10992T>A (p.Ile3664=) c.10863T>A (p.Ile3621=) c.10854T>A (p.Ile3618=) c.10350T>A (p.Ile3450=) c.10281T>A (p.Ile3427=) c.10157-9914T>A (n.10157-9914T>A) c.5067T>A (p.Ile1689=) n.535+6761A>T n.403+6761A>T c.10917T>A (p.Ile3639=) c.10797T>A (p.Ile3599=) c.10728T>A (p.Ile3576=) c.9132T>A (p.Ile3044=) n.11268T>A n.3145+6761A>T n.3013+6761A>T | |
6 | g.51659135A= | CA1628438442 | PKHD1 | c.10991T= (p.Ile3664=) c.10862T= (p.Ile3621=) c.10853T= (p.Ile3618=) c.10349T= (p.Ile3450=) c.10280T= (p.Ile3427=) c.10157-9915T= (n.10157-9915T=) c.5066T= (p.Ile1689=) n.535+6762A= n.403+6762A= c.10916T= (p.Ile3639=) c.10796T= (p.Ile3599=) c.10727T= (p.Ile3576=) c.9131T= (p.Ile3044=) n.11267T= n.3145+6762A= n.3013+6762A= | |
6 | g.51659135A>C | CA364430709 | PKHD1 | c.10991T>G (p.Ile3664Ser) c.10862T>G (p.Ile3621Ser) c.10853T>G (p.Ile3618Ser) c.10349T>G (p.Ile3450Ser) c.10280T>G (p.Ile3427Ser) c.10157-9915T>G (n.10157-9915T>G) c.5066T>G (p.Ile1689Ser) n.535+6762A>C n.403+6762A>C c.10916T>G (p.Ile3639Ser) c.10796T>G (p.Ile3599Ser) c.10727T>G (p.Ile3576Ser) c.9131T>G (p.Ile3044Ser) n.11267T>G n.3145+6762A>C n.3013+6762A>C | |
6 | g.51659135A>G | CA364430710 | PKHD1 | c.10991T>C (p.Ile3664Thr) c.10862T>C (p.Ile3621Thr) c.10853T>C (p.Ile3618Thr) c.10349T>C (p.Ile3450Thr) c.10280T>C (p.Ile3427Thr) c.10157-9915T>C (n.10157-9915T>C) c.5066T>C (p.Ile1689Thr) n.535+6762A>G n.403+6762A>G c.10916T>C (p.Ile3639Thr) c.10796T>C (p.Ile3599Thr) c.10727T>C (p.Ile3576Thr) c.9131T>C (p.Ile3044Thr) n.11267T>C n.3145+6762A>G n.3013+6762A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51659135A>T | CA364430711 | PKHD1 | c.10991T>A (p.Ile3664Asn) c.10862T>A (p.Ile3621Asn) c.10853T>A (p.Ile3618Asn) c.10349T>A (p.Ile3450Asn) c.10280T>A (p.Ile3427Asn) c.10157-9915T>A (n.10157-9915T>A) c.5066T>A (p.Ile1689Asn) n.535+6762A>T n.403+6762A>T c.10916T>A (p.Ile3639Asn) c.10796T>A (p.Ile3599Asn) c.10727T>A (p.Ile3576Asn) c.9131T>A (p.Ile3044Asn) n.11267T>A n.3145+6762A>T n.3013+6762A>T | |
6 | g.51659136T>A | CA364430712 | PKHD1 | c.10990A>T (p.Ile3664Phe) c.10861A>T (p.Ile3621Phe) c.10852A>T (p.Ile3618Phe) c.10348A>T (p.Ile3450Phe) c.10279A>T (p.Ile3427Phe) c.10157-9916A>T (n.10157-9916A>T) c.5065A>T (p.Ile1689Phe) n.535+6763T>A n.403+6763T>A c.10915A>T (p.Ile3639Phe) c.10795A>T (p.Ile3599Phe) c.10726A>T (p.Ile3576Phe) c.9130A>T (p.Ile3044Phe) n.11266A>T n.3145+6763T>A n.3013+6763T>A | |
6 | g.51659136T>C | CA138896998 | PKHD1 | c.10990A>G (p.Ile3664Val) c.10861A>G (p.Ile3621Val) c.10852A>G (p.Ile3618Val) c.10348A>G (p.Ile3450Val) c.10279A>G (p.Ile3427Val) c.10157-9916A>G (n.10157-9916A>G) c.5065A>G (p.Ile1689Val) n.535+6763T>C n.403+6763T>C c.10915A>G (p.Ile3639Val) c.10795A>G (p.Ile3599Val) c.10726A>G (p.Ile3576Val) c.9130A>G (p.Ile3044Val) n.11266A>G n.3145+6763T>C n.3013+6763T>C | dbSNP gnomAD v4 |
6 | g.51659136T>G | CA364430715 | PKHD1 | c.10990A>C (p.Ile3664Leu) c.10861A>C (p.Ile3621Leu) c.10852A>C (p.Ile3618Leu) c.10348A>C (p.Ile3450Leu) c.10279A>C (p.Ile3427Leu) c.10157-9916A>C (n.10157-9916A>C) c.5065A>C (p.Ile1689Leu) n.535+6763T>G n.403+6763T>G c.10915A>C (p.Ile3639Leu) c.10795A>C (p.Ile3599Leu) c.10726A>C (p.Ile3576Leu) c.9130A>C (p.Ile3044Leu) n.11266A>C n.3145+6763T>G n.3013+6763T>G | |
6 | g.51659136T= | CA1628438448 | PKHD1 | c.10990A= (p.Ile3664=) c.10861A= (p.Ile3621=) c.10852A= (p.Ile3618=) c.10348A= (p.Ile3450=) c.10279A= (p.Ile3427=) c.10157-9916A= (n.10157-9916A=) c.5065A= (p.Ile1689=) n.535+6763T= n.403+6763T= c.10915A= (p.Ile3639=) c.10795A= (p.Ile3599=) c.10726A= (p.Ile3576=) c.9130A= (p.Ile3044=) n.11266A= n.3145+6763T= n.3013+6763T= | |
6 | g.51659137G>A | CA450612725 | PKHD1 | c.10989C>T (p.Val3663=) c.10860C>T (p.Val3620=) c.10851C>T (p.Val3617=) c.10347C>T (p.Val3449=) c.10278C>T (p.Val3426=) c.10157-9917C>T (n.10157-9917C>T) c.5064C>T (p.Val1688=) n.535+6764G>A n.403+6764G>A c.10914C>T (p.Val3638=) c.10794C>T (p.Val3598=) c.10725C>T (p.Val3575=) c.9129C>T (p.Val3043=) n.11265C>T n.3145+6764G>A n.3013+6764G>A | |
6 | g.51659137G>C | CA450612726 | PKHD1 | c.10989C>G (p.Val3663=) c.10860C>G (p.Val3620=) c.10851C>G (p.Val3617=) c.10347C>G (p.Val3449=) c.10278C>G (p.Val3426=) c.10157-9917C>G (n.10157-9917C>G) c.5064C>G (p.Val1688=) n.535+6764G>C n.403+6764G>C c.10914C>G (p.Val3638=) c.10794C>G (p.Val3598=) c.10725C>G (p.Val3575=) c.9129C>G (p.Val3043=) n.11265C>G n.3145+6764G>C n.3013+6764G>C | |
6 | g.51659137G>T | CA450612727 | PKHD1 | c.10989C>A (p.Val3663=) c.10860C>A (p.Val3620=) c.10851C>A (p.Val3617=) c.10347C>A (p.Val3449=) c.10278C>A (p.Val3426=) c.10157-9917C>A (n.10157-9917C>A) c.5064C>A (p.Val1688=) n.535+6764G>T n.403+6764G>T c.10914C>A (p.Val3638=) c.10794C>A (p.Val3598=) c.10725C>A (p.Val3575=) c.9129C>A (p.Val3043=) n.11265C>A n.3145+6764G>T n.3013+6764G>T | |
6 | g.51659138A= | CA1628438451 | PKHD1 | c.10988T= (p.Val3663=) c.10859T= (p.Val3620=) c.10850T= (p.Val3617=) c.10346T= (p.Val3449=) c.10277T= (p.Val3426=) c.10157-9918T= (n.10157-9918T=) c.5063T= (p.Val1688=) n.535+6765A= n.403+6765A= c.10913T= (p.Val3638=) c.10793T= (p.Val3598=) c.10724T= (p.Val3575=) c.9128T= (p.Val3043=) n.11264T= n.3145+6765A= n.3013+6765A= | |
6 | g.51659138A>C | CA364430717 | PKHD1 | c.10988T>G (p.Val3663Gly) c.10859T>G (p.Val3620Gly) c.10850T>G (p.Val3617Gly) c.10346T>G (p.Val3449Gly) c.10277T>G (p.Val3426Gly) c.10157-9918T>G (n.10157-9918T>G) c.5063T>G (p.Val1688Gly) n.535+6765A>C n.403+6765A>C c.10913T>G (p.Val3638Gly) c.10793T>G (p.Val3598Gly) c.10724T>G (p.Val3575Gly) c.9128T>G (p.Val3043Gly) n.11264T>G n.3145+6765A>C n.3013+6765A>C | |
6 | g.51659138A>G | CA3850978 | PKHD1 | c.10988T>C (p.Val3663Ala) c.10859T>C (p.Val3620Ala) c.10850T>C (p.Val3617Ala) c.10346T>C (p.Val3449Ala) c.10277T>C (p.Val3426Ala) c.10157-9918T>C (n.10157-9918T>C) c.5063T>C (p.Val1688Ala) n.535+6765A>G n.403+6765A>G c.10913T>C (p.Val3638Ala) c.10793T>C (p.Val3598Ala) c.10724T>C (p.Val3575Ala) c.9128T>C (p.Val3043Ala) n.11264T>C n.3145+6765A>G n.3013+6765A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659138A>T | CA364430722 | PKHD1 | c.10988T>A (p.Val3663Asp) c.10859T>A (p.Val3620Asp) c.10850T>A (p.Val3617Asp) c.10346T>A (p.Val3449Asp) c.10277T>A (p.Val3426Asp) c.10157-9918T>A (n.10157-9918T>A) c.5063T>A (p.Val1688Asp) n.535+6765A>T n.403+6765A>T c.10913T>A (p.Val3638Asp) c.10793T>A (p.Val3598Asp) c.10724T>A (p.Val3575Asp) c.9128T>A (p.Val3043Asp) n.11264T>A n.3145+6765A>T n.3013+6765A>T | |
6 | g.51659138_51659142delinsACAAT | CA1628438452 | PKHD1 | c.10984_10988delinsATTGT (p.Ile3662=) c.10855_10859delinsATTGT (p.Ile3619=) c.10846_10850delinsATTGT (p.Ile3616=) c.10342_10346delinsATTGT (p.Ile3448=) c.10273_10277delinsATTGT (p.Ile3425=) c.10157-9922_10157-9918delinsATTGT (n.10157-9922_10157-9918delinsATTGT) c.5059_5063delinsATTGT (p.Ile1687=) n.535+6765_535+6769delinsACAAT n.403+6765_403+6769delinsACAAT c.10909_10913delinsATTGT (p.Ile3637=) c.10789_10793delinsATTGT (p.Ile3597=) c.10720_10724delinsATTGT (p.Ile3574=) c.9124_9128delinsATTGT (p.Ile3042=) n.11260_11264delinsATTGT n.3145+6765_3145+6769delinsACAAT n.3013+6765_3013+6769delinsACAAT | |
6 | g.51659139C>A | CA364430728 | PKHD1 | c.10987G>T (p.Val3663Phe) c.10858G>T (p.Val3620Phe) c.10849G>T (p.Val3617Phe) c.10345G>T (p.Val3449Phe) c.10276G>T (p.Val3426Phe) c.10157-9919G>T (n.10157-9919G>T) c.5062G>T (p.Val1688Phe) n.535+6766C>A n.403+6766C>A c.10912G>T (p.Val3638Phe) c.10792G>T (p.Val3598Phe) c.10723G>T (p.Val3575Phe) c.9127G>T (p.Val3043Phe) n.11263G>T n.3145+6766C>A n.3013+6766C>A | |
6 | g.51659139C>G | CA364430730 | PKHD1 | c.10987G>C (p.Val3663Leu) c.10858G>C (p.Val3620Leu) c.10849G>C (p.Val3617Leu) c.10345G>C (p.Val3449Leu) c.10276G>C (p.Val3426Leu) c.10157-9919G>C (n.10157-9919G>C) c.5062G>C (p.Val1688Leu) n.535+6766C>G n.403+6766C>G c.10912G>C (p.Val3638Leu) c.10792G>C (p.Val3598Leu) c.10723G>C (p.Val3575Leu) c.9127G>C (p.Val3043Leu) n.11263G>C n.3145+6766C>G n.3013+6766C>G | |
6 | g.51659139C>T | CA364430725 | PKHD1 | c.10987G>A (p.Val3663Ile) c.10858G>A (p.Val3620Ile) c.10849G>A (p.Val3617Ile) c.10345G>A (p.Val3449Ile) c.10276G>A (p.Val3426Ile) c.10157-9919G>A (n.10157-9919G>A) c.5062G>A (p.Val1688Ile) n.535+6766C>T n.403+6766C>T c.10912G>A (p.Val3638Ile) c.10792G>A (p.Val3598Ile) c.10723G>A (p.Val3575Ile) c.9127G>A (p.Val3043Ile) n.11263G>A n.3145+6766C>T n.3013+6766C>T | |
6 | g.51659141_51659144del | CA1139659588 | PKHD1 | c.10984_10987del (p.Ile3662SerfsTer10) c.10855_10858del (p.Ile3619SerfsTer10) c.10846_10849del (p.Ile3616SerfsTer10) c.10342_10345del (p.Ile3448SerfsTer10) c.10273_10276del (p.Ile3425SerfsTer10) c.10157-9922_10157-9919del (n.10157-9922_10157-9919del) c.5059_5062del (p.Ile1687SerfsTer10) n.535+6768_535+6771del n.403+6768_403+6771del c.10909_10912del (p.Ile3637SerfsTer10) c.10789_10792del (p.Ile3597SerfsTer10) c.10720_10723del (p.Ile3574SerfsTer10) c.9124_9127del (p.Ile3042SerfsTer10) n.11260_11263del n.3145+6768_3145+6771del n.3013+6768_3013+6771del | ClinVar dbSNP |
6 | g.51659140A= | CA1628438460 | PKHD1 | c.10986T= (p.Ile3662=) c.10857T= (p.Ile3619=) c.10848T= (p.Ile3616=) c.10344T= (p.Ile3448=) c.10275T= (p.Ile3425=) c.10157-9920T= (n.10157-9920T=) c.5061T= (p.Ile1687=) n.535+6767A= n.403+6767A= c.10911T= (p.Ile3637=) c.10791T= (p.Ile3597=) c.10722T= (p.Ile3574=) c.9126T= (p.Ile3042=) n.11262T= n.3145+6767A= n.3013+6767A= | |
6 | g.51659140A>C | CA364430733 | PKHD1 | c.10986T>G (p.Ile3662Met) c.10857T>G (p.Ile3619Met) c.10848T>G (p.Ile3616Met) c.10344T>G (p.Ile3448Met) c.10275T>G (p.Ile3425Met) c.10157-9920T>G (n.10157-9920T>G) c.5061T>G (p.Ile1687Met) n.535+6767A>C n.403+6767A>C c.10911T>G (p.Ile3637Met) c.10791T>G (p.Ile3597Met) c.10722T>G (p.Ile3574Met) c.9126T>G (p.Ile3042Met) n.11262T>G n.3145+6767A>C n.3013+6767A>C | |
6 | g.51659140A>G | CA450612732 | PKHD1 | c.10986T>C (p.Ile3662=) c.10857T>C (p.Ile3619=) c.10848T>C (p.Ile3616=) c.10344T>C (p.Ile3448=) c.10275T>C (p.Ile3425=) c.10157-9920T>C (n.10157-9920T>C) c.5061T>C (p.Ile1687=) n.535+6767A>G n.403+6767A>G c.10911T>C (p.Ile3637=) c.10791T>C (p.Ile3597=) c.10722T>C (p.Ile3574=) c.9126T>C (p.Ile3042=) n.11262T>C n.3145+6767A>G n.3013+6767A>G | ClinVar dbSNP gnomAD v4 |
6 | g.51659140A>T | CA450612733 | PKHD1 | c.10986T>A (p.Ile3662=) c.10857T>A (p.Ile3619=) c.10848T>A (p.Ile3616=) c.10344T>A (p.Ile3448=) c.10275T>A (p.Ile3425=) c.10157-9920T>A (n.10157-9920T>A) c.5061T>A (p.Ile1687=) n.535+6767A>T n.403+6767A>T c.10911T>A (p.Ile3637=) c.10791T>A (p.Ile3597=) c.10722T>A (p.Ile3574=) c.9126T>A (p.Ile3042=) n.11262T>A n.3145+6767A>T n.3013+6767A>T | |
6 | g.51659141A>C | CA364430737 | PKHD1 | c.10985T>G (p.Ile3662Ser) c.10856T>G (p.Ile3619Ser) c.10847T>G (p.Ile3616Ser) c.10343T>G (p.Ile3448Ser) c.10274T>G (p.Ile3425Ser) c.10157-9921T>G (n.10157-9921T>G) c.5060T>G (p.Ile1687Ser) n.535+6768A>C n.403+6768A>C c.10910T>G (p.Ile3637Ser) c.10790T>G (p.Ile3597Ser) c.10721T>G (p.Ile3574Ser) c.9125T>G (p.Ile3042Ser) n.11261T>G n.3145+6768A>C n.3013+6768A>C | |
6 | g.51659141A>G | CA364430740 | PKHD1 | c.10985T>C (p.Ile3662Thr) c.10856T>C (p.Ile3619Thr) c.10847T>C (p.Ile3616Thr) c.10343T>C (p.Ile3448Thr) c.10274T>C (p.Ile3425Thr) c.10157-9921T>C (n.10157-9921T>C) c.5060T>C (p.Ile1687Thr) n.535+6768A>G n.403+6768A>G c.10910T>C (p.Ile3637Thr) c.10790T>C (p.Ile3597Thr) c.10721T>C (p.Ile3574Thr) c.9125T>C (p.Ile3042Thr) n.11261T>C n.3145+6768A>G n.3013+6768A>G | |
6 | g.51659141A>T | CA364430743 | PKHD1 | c.10985T>A (p.Ile3662Asn) c.10856T>A (p.Ile3619Asn) c.10847T>A (p.Ile3616Asn) c.10343T>A (p.Ile3448Asn) c.10274T>A (p.Ile3425Asn) c.10157-9921T>A (n.10157-9921T>A) c.5060T>A (p.Ile1687Asn) n.535+6768A>T n.403+6768A>T c.10910T>A (p.Ile3637Asn) c.10790T>A (p.Ile3597Asn) c.10721T>A (p.Ile3574Asn) c.9125T>A (p.Ile3042Asn) n.11261T>A n.3145+6768A>T n.3013+6768A>T | |
6 | g.51659142T>A | CA364430747 | PKHD1 | c.10984A>T (p.Ile3662Phe) c.10855A>T (p.Ile3619Phe) c.10846A>T (p.Ile3616Phe) c.10342A>T (p.Ile3448Phe) c.10273A>T (p.Ile3425Phe) c.10157-9922A>T (n.10157-9922A>T) c.5059A>T (p.Ile1687Phe) n.535+6769T>A n.403+6769T>A c.10909A>T (p.Ile3637Phe) c.10789A>T (p.Ile3597Phe) c.10720A>T (p.Ile3574Phe) c.9124A>T (p.Ile3042Phe) n.11260A>T n.3145+6769T>A n.3013+6769T>A | |
6 | g.51659142T>C | CA364430750 | PKHD1 | c.10984A>G (p.Ile3662Val) c.10855A>G (p.Ile3619Val) c.10846A>G (p.Ile3616Val) c.10342A>G (p.Ile3448Val) c.10273A>G (p.Ile3425Val) c.10157-9922A>G (n.10157-9922A>G) c.5059A>G (p.Ile1687Val) n.535+6769T>C n.403+6769T>C c.10909A>G (p.Ile3637Val) c.10789A>G (p.Ile3597Val) c.10720A>G (p.Ile3574Val) c.9124A>G (p.Ile3042Val) n.11260A>G n.3145+6769T>C n.3013+6769T>C | gnomAD v4 |
6 | g.51659142T>G | CA364430754 | PKHD1 | c.10984A>C (p.Ile3662Leu) c.10855A>C (p.Ile3619Leu) c.10846A>C (p.Ile3616Leu) c.10342A>C (p.Ile3448Leu) c.10273A>C (p.Ile3425Leu) c.10157-9922A>C (n.10157-9922A>C) c.5059A>C (p.Ile1687Leu) n.535+6769T>G n.403+6769T>G c.10909A>C (p.Ile3637Leu) c.10789A>C (p.Ile3597Leu) c.10720A>C (p.Ile3574Leu) c.9124A>C (p.Ile3042Leu) n.11260A>C n.3145+6769T>G n.3013+6769T>G | |
6 | g.51659143C>A | CA450612735 | PKHD1 | c.10983G>T (p.Val3661=) c.10854G>T (p.Val3618=) c.10845G>T (p.Val3615=) c.10341G>T (p.Val3447=) c.10272G>T (p.Val3424=) c.10157-9923G>T (n.10157-9923G>T) c.5058G>T (p.Val1686=) n.535+6770C>A n.403+6770C>A c.10908G>T (p.Val3636=) c.10788G>T (p.Val3596=) c.10719G>T (p.Val3573=) c.9123G>T (p.Val3041=) n.11259G>T n.3145+6770C>A n.3013+6770C>A | |
6 | g.51659143C= | CA1628438464 | PKHD1 | c.10983G= (p.Val3661=) c.10854G= (p.Val3618=) c.10845G= (p.Val3615=) c.10341G= (p.Val3447=) c.10272G= (p.Val3424=) c.10157-9923G= (n.10157-9923G=) c.5058G= (p.Val1686=) n.535+6770C= n.403+6770C= c.10908G= (p.Val3636=) c.10788G= (p.Val3596=) c.10719G= (p.Val3573=) c.9123G= (p.Val3041=) n.11259G= n.3145+6770C= n.3013+6770C= | |
6 | g.51659143C>G | CA450612736 | PKHD1 | c.10983G>C (p.Val3661=) c.10854G>C (p.Val3618=) c.10845G>C (p.Val3615=) c.10341G>C (p.Val3447=) c.10272G>C (p.Val3424=) c.10157-9923G>C (n.10157-9923G>C) c.5058G>C (p.Val1686=) n.535+6770C>G n.403+6770C>G c.10908G>C (p.Val3636=) c.10788G>C (p.Val3596=) c.10719G>C (p.Val3573=) c.9123G>C (p.Val3041=) n.11259G>C n.3145+6770C>G n.3013+6770C>G | |
6 | g.51659143C>T | CA3850979 | PKHD1 | c.10983G>A (p.Val3661=) c.10854G>A (p.Val3618=) c.10845G>A (p.Val3615=) c.10341G>A (p.Val3447=) c.10272G>A (p.Val3424=) c.10157-9923G>A (n.10157-9923G>A) c.5058G>A (p.Val1686=) n.535+6770C>T n.403+6770C>T c.10908G>A (p.Val3636=) c.10788G>A (p.Val3596=) c.10719G>A (p.Val3573=) c.9123G>A (p.Val3041=) n.11259G>A n.3145+6770C>T n.3013+6770C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659144A>C | CA364430762 | PKHD1 | c.10982T>G (p.Val3661Gly) c.10853T>G (p.Val3618Gly) c.10844T>G (p.Val3615Gly) c.10340T>G (p.Val3447Gly) c.10271T>G (p.Val3424Gly) c.10157-9924T>G (n.10157-9924T>G) c.5057T>G (p.Val1686Gly) n.535+6771A>C n.403+6771A>C c.10907T>G (p.Val3636Gly) c.10787T>G (p.Val3596Gly) c.10718T>G (p.Val3573Gly) c.9122T>G (p.Val3041Gly) n.11258T>G n.3145+6771A>C n.3013+6771A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51659144A>G | CA364430766 | PKHD1 | c.10982T>C (p.Val3661Ala) c.10853T>C (p.Val3618Ala) c.10844T>C (p.Val3615Ala) c.10340T>C (p.Val3447Ala) c.10271T>C (p.Val3424Ala) c.10157-9924T>C (n.10157-9924T>C) c.5057T>C (p.Val1686Ala) n.535+6771A>G n.403+6771A>G c.10907T>C (p.Val3636Ala) c.10787T>C (p.Val3596Ala) c.10718T>C (p.Val3573Ala) c.9122T>C (p.Val3041Ala) n.11258T>C n.3145+6771A>G n.3013+6771A>G | |
6 | g.51659144A>T | CA364430778 | PKHD1 | c.10982T>A (p.Val3661Glu) c.10853T>A (p.Val3618Glu) c.10844T>A (p.Val3615Glu) c.10340T>A (p.Val3447Glu) c.10271T>A (p.Val3424Glu) c.10157-9924T>A (n.10157-9924T>A) c.5057T>A (p.Val1686Glu) n.535+6771A>T n.403+6771A>T c.10907T>A (p.Val3636Glu) c.10787T>A (p.Val3596Glu) c.10718T>A (p.Val3573Glu) c.9122T>A (p.Val3041Glu) n.11258T>A n.3145+6771A>T n.3013+6771A>T | |
6 | g.51659145C>A | CA364430783 | PKHD1 | c.10981G>T (p.Val3661Leu) c.10852G>T (p.Val3618Leu) c.10843G>T (p.Val3615Leu) c.10339G>T (p.Val3447Leu) c.10270G>T (p.Val3424Leu) c.10157-9925G>T (n.10157-9925G>T) c.5056G>T (p.Val1686Leu) n.535+6772C>A n.403+6772C>A c.10906G>T (p.Val3636Leu) c.10786G>T (p.Val3596Leu) c.10717G>T (p.Val3573Leu) c.9121G>T (p.Val3041Leu) n.11257G>T n.3145+6772C>A n.3013+6772C>A | |
6 | g.51659145C>G | CA364430786 | PKHD1 | c.10981G>C (p.Val3661Leu) c.10852G>C (p.Val3618Leu) c.10843G>C (p.Val3615Leu) c.10339G>C (p.Val3447Leu) c.10270G>C (p.Val3424Leu) c.10157-9925G>C (n.10157-9925G>C) c.5056G>C (p.Val1686Leu) n.535+6772C>G n.403+6772C>G c.10906G>C (p.Val3636Leu) c.10786G>C (p.Val3596Leu) c.10717G>C (p.Val3573Leu) c.9121G>C (p.Val3041Leu) n.11257G>C n.3145+6772C>G n.3013+6772C>G | |
6 | g.51659145C>T | CA364430792 | PKHD1 | c.10981G>A (p.Val3661Met) c.10852G>A (p.Val3618Met) c.10843G>A (p.Val3615Met) c.10339G>A (p.Val3447Met) c.10270G>A (p.Val3424Met) c.10157-9925G>A (n.10157-9925G>A) c.5056G>A (p.Val1686Met) n.535+6772C>T n.403+6772C>T c.10906G>A (p.Val3636Met) c.10786G>A (p.Val3596Met) c.10717G>A (p.Val3573Met) c.9121G>A (p.Val3041Met) n.11257G>A n.3145+6772C>T n.3013+6772C>T | gnomAD v4 |
6 | g.51659146T>A | CA364430798 | PKHD1 | c.10980A>T (p.Lys3660Asn) c.10851A>T (p.Lys3617Asn) c.10842A>T (p.Lys3614Asn) c.10338A>T (p.Lys3446Asn) c.10269A>T (p.Lys3423Asn) c.10157-9926A>T (n.10157-9926A>T) c.5055A>T (p.Lys1685Asn) n.535+6773T>A n.403+6773T>A c.10905A>T (p.Lys3635Asn) c.10785A>T (p.Lys3595Asn) c.10716A>T (p.Lys3572Asn) c.9120A>T (p.Lys3040Asn) n.11256A>T n.3145+6773T>A n.3013+6773T>A | |
6 | g.51659146T>C | CA450612740 | PKHD1 | c.10980A>G (p.Lys3660=) c.10851A>G (p.Lys3617=) c.10842A>G (p.Lys3614=) c.10338A>G (p.Lys3446=) c.10269A>G (p.Lys3423=) c.10157-9926A>G (n.10157-9926A>G) c.5055A>G (p.Lys1685=) n.535+6773T>C n.403+6773T>C c.10905A>G (p.Lys3635=) c.10785A>G (p.Lys3595=) c.10716A>G (p.Lys3572=) c.9120A>G (p.Lys3040=) n.11256A>G n.3145+6773T>C n.3013+6773T>C | ClinVar gnomAD v4 |
6 | g.51659146T>G | CA364430795 | PKHD1 | c.10980A>C (p.Lys3660Asn) c.10851A>C (p.Lys3617Asn) c.10842A>C (p.Lys3614Asn) c.10338A>C (p.Lys3446Asn) c.10269A>C (p.Lys3423Asn) c.10157-9926A>C (n.10157-9926A>C) c.5055A>C (p.Lys1685Asn) n.535+6773T>G n.403+6773T>G c.10905A>C (p.Lys3635Asn) c.10785A>C (p.Lys3595Asn) c.10716A>C (p.Lys3572Asn) c.9120A>C (p.Lys3040Asn) n.11256A>C n.3145+6773T>G n.3013+6773T>G | |
6 | g.51659147T>A | CA364430801 | PKHD1 | c.10979A>T (p.Lys3660Ile) c.10850A>T (p.Lys3617Ile) c.10841A>T (p.Lys3614Ile) c.10337A>T (p.Lys3446Ile) c.10268A>T (p.Lys3423Ile) c.10157-9927A>T (n.10157-9927A>T) c.5054A>T (p.Lys1685Ile) n.535+6774T>A n.403+6774T>A c.10904A>T (p.Lys3635Ile) c.10784A>T (p.Lys3595Ile) c.10715A>T (p.Lys3572Ile) c.9119A>T (p.Lys3040Ile) n.11255A>T n.3145+6774T>A n.3013+6774T>A | |
6 | g.51659147T>C | CA364430803 | PKHD1 | c.10979A>G (p.Lys3660Arg) c.10850A>G (p.Lys3617Arg) c.10841A>G (p.Lys3614Arg) c.10337A>G (p.Lys3446Arg) c.10268A>G (p.Lys3423Arg) c.10157-9927A>G (n.10157-9927A>G) c.5054A>G (p.Lys1685Arg) n.535+6774T>C n.403+6774T>C c.10904A>G (p.Lys3635Arg) c.10784A>G (p.Lys3595Arg) c.10715A>G (p.Lys3572Arg) c.9119A>G (p.Lys3040Arg) n.11255A>G n.3145+6774T>C n.3013+6774T>C | |
6 | g.51659147T>G | CA364430808 | PKHD1 | c.10979A>C (p.Lys3660Thr) c.10850A>C (p.Lys3617Thr) c.10841A>C (p.Lys3614Thr) c.10337A>C (p.Lys3446Thr) c.10268A>C (p.Lys3423Thr) c.10157-9927A>C (n.10157-9927A>C) c.5054A>C (p.Lys1685Thr) n.535+6774T>G n.403+6774T>G c.10904A>C (p.Lys3635Thr) c.10784A>C (p.Lys3595Thr) c.10715A>C (p.Lys3572Thr) c.9119A>C (p.Lys3040Thr) n.11255A>C n.3145+6774T>G n.3013+6774T>G | |
6 | g.51659148T>A | CA364430811 | PKHD1 | c.10978A>T (p.Lys3660Ter) c.10849A>T (p.Lys3617Ter) c.10840A>T (p.Lys3614Ter) c.10336A>T (p.Lys3446Ter) c.10267A>T (p.Lys3423Ter) c.10157-9928A>T (n.10157-9928A>T) c.5053A>T (p.Lys1685Ter) n.535+6775T>A n.403+6775T>A c.10903A>T (p.Lys3635Ter) c.10783A>T (p.Lys3595Ter) c.10714A>T (p.Lys3572Ter) c.9118A>T (p.Lys3040Ter) n.11254A>T n.3145+6775T>A n.3013+6775T>A | ClinVar |
6 | g.51659148T>C | CA364430815 | PKHD1 | c.10978A>G (p.Lys3660Glu) c.10849A>G (p.Lys3617Glu) c.10840A>G (p.Lys3614Glu) c.10336A>G (p.Lys3446Glu) c.10267A>G (p.Lys3423Glu) c.10157-9928A>G (n.10157-9928A>G) c.5053A>G (p.Lys1685Glu) n.535+6775T>C n.403+6775T>C c.10903A>G (p.Lys3635Glu) c.10783A>G (p.Lys3595Glu) c.10714A>G (p.Lys3572Glu) c.9118A>G (p.Lys3040Glu) n.11254A>G n.3145+6775T>C n.3013+6775T>C | |
6 | g.51659148T>G | CA364430818 | PKHD1 | c.10978A>C (p.Lys3660Gln) c.10849A>C (p.Lys3617Gln) c.10840A>C (p.Lys3614Gln) c.10336A>C (p.Lys3446Gln) c.10267A>C (p.Lys3423Gln) c.10157-9928A>C (n.10157-9928A>C) c.5053A>C (p.Lys1685Gln) n.535+6775T>G n.403+6775T>G c.10903A>C (p.Lys3635Gln) c.10783A>C (p.Lys3595Gln) c.10714A>C (p.Lys3572Gln) c.9118A>C (p.Lys3040Gln) n.11254A>C n.3145+6775T>G n.3013+6775T>G | |
6 | g.51659149T>A | CA450612743 | PKHD1 | c.10977A>T (p.Ser3659=) c.10848A>T (p.Ser3616=) c.10839A>T (p.Ser3613=) c.10335A>T (p.Ser3445=) c.10266A>T (p.Ser3422=) c.10157-9929A>T (n.10157-9929A>T) c.5052A>T (p.Ser1684=) n.535+6776T>A n.403+6776T>A c.10902A>T (p.Ser3634=) c.10782A>T (p.Ser3594=) c.10713A>T (p.Ser3571=) c.9117A>T (p.Ser3039=) n.11253A>T n.3145+6776T>A n.3013+6776T>A | |
6 | g.51659149T>C | CA450612745 | PKHD1 | c.10977A>G (p.Ser3659=) c.10848A>G (p.Ser3616=) c.10839A>G (p.Ser3613=) c.10335A>G (p.Ser3445=) c.10266A>G (p.Ser3422=) c.10157-9929A>G (n.10157-9929A>G) c.5052A>G (p.Ser1684=) n.535+6776T>C n.403+6776T>C c.10902A>G (p.Ser3634=) c.10782A>G (p.Ser3594=) c.10713A>G (p.Ser3571=) c.9117A>G (p.Ser3039=) n.11253A>G n.3145+6776T>C n.3013+6776T>C | dbSNP gnomAD v4 |
6 | g.51659149T>G | CA450612746 | PKHD1 | c.10977A>C (p.Ser3659=) c.10848A>C (p.Ser3616=) c.10839A>C (p.Ser3613=) c.10335A>C (p.Ser3445=) c.10266A>C (p.Ser3422=) c.10157-9929A>C (n.10157-9929A>C) c.5052A>C (p.Ser1684=) n.535+6776T>G n.403+6776T>G c.10902A>C (p.Ser3634=) c.10782A>C (p.Ser3594=) c.10713A>C (p.Ser3571=) c.9117A>C (p.Ser3039=) n.11253A>C n.3145+6776T>G n.3013+6776T>G | gnomAD v4 |
6 | g.51659150G>A | CA364430822 | PKHD1 | c.10976C>T (p.Ser3659Leu) c.10847C>T (p.Ser3616Leu) c.10838C>T (p.Ser3613Leu) c.10334C>T (p.Ser3445Leu) c.10265C>T (p.Ser3422Leu) c.10157-9930C>T (n.10157-9930C>T) c.5051C>T (p.Ser1684Leu) n.535+6777G>A n.403+6777G>A c.10901C>T (p.Ser3634Leu) c.10781C>T (p.Ser3594Leu) c.10712C>T (p.Ser3571Leu) c.9116C>T (p.Ser3039Leu) n.11252C>T n.3145+6777G>A n.3013+6777G>A | dbSNP |
6 | g.51659150G>C | CA364430825 | PKHD1 | c.10976C>G (p.Ser3659Ter) c.10847C>G (p.Ser3616Ter) c.10838C>G (p.Ser3613Ter) c.10334C>G (p.Ser3445Ter) c.10265C>G (p.Ser3422Ter) c.10157-9930C>G (n.10157-9930C>G) c.5051C>G (p.Ser1684Ter) n.535+6777G>C n.403+6777G>C c.10901C>G (p.Ser3634Ter) c.10781C>G (p.Ser3594Ter) c.10712C>G (p.Ser3571Ter) c.9116C>G (p.Ser3039Ter) n.11252C>G n.3145+6777G>C n.3013+6777G>C | ClinVar dbSNP gnomAD v4 |
6 | g.51659150G= | CA1628438467 | PKHD1 | c.10976C= (p.Ser3659=) c.10847C= (p.Ser3616=) c.10838C= (p.Ser3613=) c.10334C= (p.Ser3445=) c.10265C= (p.Ser3422=) c.10157-9930C= (n.10157-9930C=) c.5051C= (p.Ser1684=) n.535+6777G= n.403+6777G= c.10901C= (p.Ser3634=) c.10781C= (p.Ser3594=) c.10712C= (p.Ser3571=) c.9116C= (p.Ser3039=) n.11252C= n.3145+6777G= n.3013+6777G= | |
6 | g.51659150G>T | CA364430833 | PKHD1 | c.10976C>A (p.Ser3659Ter) c.10847C>A (p.Ser3616Ter) c.10838C>A (p.Ser3613Ter) c.10334C>A (p.Ser3445Ter) c.10265C>A (p.Ser3422Ter) c.10157-9930C>A (n.10157-9930C>A) c.5051C>A (p.Ser1684Ter) n.535+6777G>T n.403+6777G>T c.10901C>A (p.Ser3634Ter) c.10781C>A (p.Ser3594Ter) c.10712C>A (p.Ser3571Ter) c.9116C>A (p.Ser3039Ter) n.11252C>A n.3145+6777G>T n.3013+6777G>T | |
6 | g.51659151A>C | CA364430839 | PKHD1 | c.10975T>G (p.Ser3659Ala) c.10846T>G (p.Ser3616Ala) c.10837T>G (p.Ser3613Ala) c.10333T>G (p.Ser3445Ala) c.10264T>G (p.Ser3422Ala) c.10157-9931T>G (n.10157-9931T>G) c.5050T>G (p.Ser1684Ala) n.535+6778A>C n.403+6778A>C c.10900T>G (p.Ser3634Ala) c.10780T>G (p.Ser3594Ala) c.10711T>G (p.Ser3571Ala) c.9115T>G (p.Ser3039Ala) n.11251T>G n.3145+6778A>C n.3013+6778A>C | |
6 | g.51659151A>G | CA364430842 | PKHD1 | c.10975T>C (p.Ser3659Pro) c.10846T>C (p.Ser3616Pro) c.10837T>C (p.Ser3613Pro) c.10333T>C (p.Ser3445Pro) c.10264T>C (p.Ser3422Pro) c.10157-9931T>C (n.10157-9931T>C) c.5050T>C (p.Ser1684Pro) n.535+6778A>G n.403+6778A>G c.10900T>C (p.Ser3634Pro) c.10780T>C (p.Ser3594Pro) c.10711T>C (p.Ser3571Pro) c.9115T>C (p.Ser3039Pro) n.11251T>C n.3145+6778A>G n.3013+6778A>G | |
6 | g.51659151A>T | CA364430845 | PKHD1 | c.10975T>A (p.Ser3659Thr) c.10846T>A (p.Ser3616Thr) c.10837T>A (p.Ser3613Thr) c.10333T>A (p.Ser3445Thr) c.10264T>A (p.Ser3422Thr) c.10157-9931T>A (n.10157-9931T>A) c.5050T>A (p.Ser1684Thr) n.535+6778A>T n.403+6778A>T c.10900T>A (p.Ser3634Thr) c.10780T>A (p.Ser3594Thr) c.10711T>A (p.Ser3571Thr) c.9115T>A (p.Ser3039Thr) n.11251T>A n.3145+6778A>T n.3013+6778A>T | |
6 | g.51659152G>A | CA450612747 | PKHD1 | c.10974C>T (p.Ile3658=) c.10845C>T (p.Ile3615=) c.10836C>T (p.Ile3612=) c.10332C>T (p.Ile3444=) c.10263C>T (p.Ile3421=) c.10157-9932C>T (n.10157-9932C>T) c.5049C>T (p.Ile1683=) n.535+6779G>A n.403+6779G>A c.10899C>T (p.Ile3633=) c.10779C>T (p.Ile3593=) c.10710C>T (p.Ile3570=) c.9114C>T (p.Ile3038=) n.11250C>T n.3145+6779G>A n.3013+6779G>A | |
6 | g.51659152G>C | CA364430848 | PKHD1 | c.10974C>G (p.Ile3658Met) c.10845C>G (p.Ile3615Met) c.10836C>G (p.Ile3612Met) c.10332C>G (p.Ile3444Met) c.10263C>G (p.Ile3421Met) c.10157-9932C>G (n.10157-9932C>G) c.5049C>G (p.Ile1683Met) n.535+6779G>C n.403+6779G>C c.10899C>G (p.Ile3633Met) c.10779C>G (p.Ile3593Met) c.10710C>G (p.Ile3570Met) c.9114C>G (p.Ile3038Met) n.11250C>G n.3145+6779G>C n.3013+6779G>C | |
6 | g.51659152G>T | CA450612748 | PKHD1 | c.10974C>A (p.Ile3658=) c.10845C>A (p.Ile3615=) c.10836C>A (p.Ile3612=) c.10332C>A (p.Ile3444=) c.10263C>A (p.Ile3421=) c.10157-9932C>A (n.10157-9932C>A) c.5049C>A (p.Ile1683=) n.535+6779G>T n.403+6779G>T c.10899C>A (p.Ile3633=) c.10779C>A (p.Ile3593=) c.10710C>A (p.Ile3570=) c.9114C>A (p.Ile3038=) n.11250C>A n.3145+6779G>T n.3013+6779G>T | gnomAD v4 |
6 | g.51659152_51659154delinsGAT | CA1628438471 | PKHD1 | c.10972_10974delinsATC (p.Ile3658=) c.10843_10845delinsATC (p.Ile3615=) c.10834_10836delinsATC (p.Ile3612=) c.10330_10332delinsATC (p.Ile3444=) c.10261_10263delinsATC (p.Ile3421=) c.10157-9934_10157-9932delinsATC (n.10157-9934_10157-9932delinsATC) c.5047_5049delinsATC (p.Ile1683=) n.535+6779_535+6781delinsGAT n.403+6779_403+6781delinsGAT c.10897_10899delinsATC (p.Ile3633=) c.10777_10779delinsATC (p.Ile3593=) c.10708_10710delinsATC (p.Ile3570=) c.9112_9114delinsATC (p.Ile3038=) n.11248_11250delinsATC n.3145+6779_3145+6781delinsGAT n.3013+6779_3013+6781delinsGAT | |
6 | g.51659153A= | CA1628438482 | PKHD1 | c.10973T= (p.Ile3658=) c.10844T= (p.Ile3615=) c.10835T= (p.Ile3612=) c.10331T= (p.Ile3444=) c.10262T= (p.Ile3421=) c.10157-9933T= (n.10157-9933T=) c.5048T= (p.Ile1683=) n.535+6780A= n.403+6780A= c.10898T= (p.Ile3633=) c.10778T= (p.Ile3593=) c.10709T= (p.Ile3570=) c.9113T= (p.Ile3038=) n.11249T= n.3145+6780A= n.3013+6780A= | |
6 | g.51659153A>C | CA364430861 | PKHD1 | c.10973T>G (p.Ile3658Ser) c.10844T>G (p.Ile3615Ser) c.10835T>G (p.Ile3612Ser) c.10331T>G (p.Ile3444Ser) c.10262T>G (p.Ile3421Ser) c.10157-9933T>G (n.10157-9933T>G) c.5048T>G (p.Ile1683Ser) n.535+6780A>C n.403+6780A>C c.10898T>G (p.Ile3633Ser) c.10778T>G (p.Ile3593Ser) c.10709T>G (p.Ile3570Ser) c.9113T>G (p.Ile3038Ser) n.11249T>G n.3145+6780A>C n.3013+6780A>C | |
6 | g.51659153A>G | CA3850980 | PKHD1 | c.10973T>C (p.Ile3658Thr) c.10844T>C (p.Ile3615Thr) c.10835T>C (p.Ile3612Thr) c.10331T>C (p.Ile3444Thr) c.10262T>C (p.Ile3421Thr) c.10157-9933T>C (n.10157-9933T>C) c.5048T>C (p.Ile1683Thr) n.535+6780A>G n.403+6780A>G c.10898T>C (p.Ile3633Thr) c.10778T>C (p.Ile3593Thr) c.10709T>C (p.Ile3570Thr) c.9113T>C (p.Ile3038Thr) n.11249T>C n.3145+6780A>G n.3013+6780A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659153A>T | CA364430853 | PKHD1 | c.10973T>A (p.Ile3658Asn) c.10844T>A (p.Ile3615Asn) c.10835T>A (p.Ile3612Asn) c.10331T>A (p.Ile3444Asn) c.10262T>A (p.Ile3421Asn) c.10157-9933T>A (n.10157-9933T>A) c.5048T>A (p.Ile1683Asn) n.535+6780A>T n.403+6780A>T c.10898T>A (p.Ile3633Asn) c.10778T>A (p.Ile3593Asn) c.10709T>A (p.Ile3570Asn) c.9113T>A (p.Ile3038Asn) n.11249T>A n.3145+6780A>T n.3013+6780A>T | |
6 | g.51659154_51659155del | CA16041023 | PKHD1 | c.10972_10973del (p.Ile3658LeufsTer7) c.10843_10844del (p.Ile3615LeufsTer7) c.10834_10835del (p.Ile3612LeufsTer7) c.10330_10331del (p.Ile3444LeufsTer7) c.10261_10262del (p.Ile3421LeufsTer7) c.10157-9934_10157-9933del (n.10157-9934_10157-9933del) c.5047_5048del (p.Ile1683LeufsTer7) n.535+6781_535+6782del n.403+6781_403+6782del c.10897_10898del (p.Ile3633LeufsTer7) c.10777_10778del (p.Ile3593LeufsTer7) c.10708_10709del (p.Ile3570LeufsTer7) c.9112_9113del (p.Ile3038LeufsTer7) n.11248_11249del n.3145+6781_3145+6782del n.3013+6781_3013+6782del | ClinVar dbSNP gnomAD v4 |
6 | g.51659154T>A | CA364430863 | PKHD1 | c.10972A>T (p.Ile3658Phe) c.10843A>T (p.Ile3615Phe) c.10834A>T (p.Ile3612Phe) c.10330A>T (p.Ile3444Phe) c.10261A>T (p.Ile3421Phe) c.10157-9934A>T (n.10157-9934A>T) c.5047A>T (p.Ile1683Phe) n.535+6781T>A n.403+6781T>A c.10897A>T (p.Ile3633Phe) c.10777A>T (p.Ile3593Phe) c.10708A>T (p.Ile3570Phe) c.9112A>T (p.Ile3038Phe) n.11248A>T n.3145+6781T>A n.3013+6781T>A | |
6 | g.51659154T>C | CA3850981 | PKHD1 | c.10972A>G (p.Ile3658Val) c.10843A>G (p.Ile3615Val) c.10834A>G (p.Ile3612Val) c.10330A>G (p.Ile3444Val) c.10261A>G (p.Ile3421Val) c.10157-9934A>G (n.10157-9934A>G) c.5047A>G (p.Ile1683Val) n.535+6781T>C n.403+6781T>C c.10897A>G (p.Ile3633Val) c.10777A>G (p.Ile3593Val) c.10708A>G (p.Ile3570Val) c.9112A>G (p.Ile3038Val) n.11248A>G n.3145+6781T>C n.3013+6781T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659154T>G | CA364430862 | PKHD1 | c.10972A>C (p.Ile3658Leu) c.10843A>C (p.Ile3615Leu) c.10834A>C (p.Ile3612Leu) c.10330A>C (p.Ile3444Leu) c.10261A>C (p.Ile3421Leu) c.10157-9934A>C (n.10157-9934A>C) c.5047A>C (p.Ile1683Leu) n.535+6781T>G n.403+6781T>G c.10897A>C (p.Ile3633Leu) c.10777A>C (p.Ile3593Leu) c.10708A>C (p.Ile3570Leu) c.9112A>C (p.Ile3038Leu) n.11248A>C n.3145+6781T>G n.3013+6781T>G | |
6 | g.51659154T= | CA1628438485 | PKHD1 | c.10972A= (p.Ile3658=) c.10843A= (p.Ile3615=) c.10834A= (p.Ile3612=) c.10330A= (p.Ile3444=) c.10261A= (p.Ile3421=) c.10157-9934A= (n.10157-9934A=) c.5047A= (p.Ile1683=) n.535+6781T= n.403+6781T= c.10897A= (p.Ile3633=) c.10777A= (p.Ile3593=) c.10708A= (p.Ile3570=) c.9112A= (p.Ile3038=) n.11248A= n.3145+6781T= n.3013+6781T= | |
6 | g.51659155_51659156insAGAATAAAAATTCAAAGAGTCATTTAAAGACTTAAATTCTTA | CA2535768859 | PKHD1 | c.10972_10973insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3658LysfsTer6) c.10843_10844insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3615LysfsTer6) c.10834_10835insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3612LysfsTer6) c.10330_10331insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3444LysfsTer6) c.10261_10262insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3421LysfsTer6) c.10157-9934_10157-9933insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (n.10157-9934_10157-9933insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA) c.5047_5048insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile1683LysfsTer6) n.535+6782_535+6783insAGAATAAAAATTCAAAGAGTCATTTAAAGACTTAAATTCTTA n.403+6782_403+6783insAGAATAAAAATTCAAAGAGTCATTTAAAGACTTAAATTCTTA c.10897_10898insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3633LysfsTer6) c.10777_10778insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3593LysfsTer6) c.10708_10709insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3570LysfsTer6) c.9112_9113insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA (p.Ile3038LysfsTer6) n.11248_11249insAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTA n.3145+6782_3145+6783insAGAATAAAAATTCAAAGAGTCATTTAAAGACTTAAATTCTTA n.3013+6782_3013+6783insAGAATAAAAATTCAAAGAGTCATTTAAAGACTTAAATTCTTA | |
6 | g.51659155A>C | CA450612752 | PKHD1 | c.10971T>G (p.Thr3657=) c.10842T>G (p.Thr3614=) c.10833T>G (p.Thr3611=) c.10329T>G (p.Thr3443=) c.10260T>G (p.Thr3420=) c.10157-9935T>G (n.10157-9935T>G) c.5046T>G (p.Thr1682=) n.535+6782A>C n.403+6782A>C c.10896T>G (p.Thr3632=) c.10776T>G (p.Thr3592=) c.10707T>G (p.Thr3569=) c.9111T>G (p.Thr3037=) n.11247T>G n.3145+6782A>C n.3013+6782A>C | |
6 | g.51659155A>G | CA450612753 | PKHD1 | c.10971T>C (p.Thr3657=) c.10842T>C (p.Thr3614=) c.10833T>C (p.Thr3611=) c.10329T>C (p.Thr3443=) c.10260T>C (p.Thr3420=) c.10157-9935T>C (n.10157-9935T>C) c.5046T>C (p.Thr1682=) n.535+6782A>G n.403+6782A>G c.10896T>C (p.Thr3632=) c.10776T>C (p.Thr3592=) c.10707T>C (p.Thr3569=) c.9111T>C (p.Thr3037=) n.11247T>C n.3145+6782A>G n.3013+6782A>G | |
6 | g.51659155A>T | CA450612755 | PKHD1 | c.10971T>A (p.Thr3657=) c.10842T>A (p.Thr3614=) c.10833T>A (p.Thr3611=) c.10329T>A (p.Thr3443=) c.10260T>A (p.Thr3420=) c.10157-9935T>A (n.10157-9935T>A) c.5046T>A (p.Thr1682=) n.535+6782A>T n.403+6782A>T c.10896T>A (p.Thr3632=) c.10776T>A (p.Thr3592=) c.10707T>A (p.Thr3569=) c.9111T>A (p.Thr3037=) n.11247T>A n.3145+6782A>T n.3013+6782A>T | |
6 | g.51659156G>A | CA364430865 | PKHD1 | c.10970C>T (p.Thr3657Ile) c.10841C>T (p.Thr3614Ile) c.10832C>T (p.Thr3611Ile) c.10328C>T (p.Thr3443Ile) c.10259C>T (p.Thr3420Ile) c.10157-9936C>T (n.10157-9936C>T) c.5045C>T (p.Thr1682Ile) n.535+6783G>A n.403+6783G>A c.10895C>T (p.Thr3632Ile) c.10775C>T (p.Thr3592Ile) c.10706C>T (p.Thr3569Ile) c.9110C>T (p.Thr3037Ile) n.11246C>T n.3145+6783G>A n.3013+6783G>A | |
6 | g.51659156G>C | CA364430867 | PKHD1 | c.10970C>G (p.Thr3657Ser) c.10841C>G (p.Thr3614Ser) c.10832C>G (p.Thr3611Ser) c.10328C>G (p.Thr3443Ser) c.10259C>G (p.Thr3420Ser) c.10157-9936C>G (n.10157-9936C>G) c.5045C>G (p.Thr1682Ser) n.535+6783G>C n.403+6783G>C c.10895C>G (p.Thr3632Ser) c.10775C>G (p.Thr3592Ser) c.10706C>G (p.Thr3569Ser) c.9110C>G (p.Thr3037Ser) n.11246C>G n.3145+6783G>C n.3013+6783G>C | |
6 | g.51659156G>T | CA364430869 | PKHD1 | c.10970C>A (p.Thr3657Asn) c.10841C>A (p.Thr3614Asn) c.10832C>A (p.Thr3611Asn) c.10328C>A (p.Thr3443Asn) c.10259C>A (p.Thr3420Asn) c.10157-9936C>A (n.10157-9936C>A) c.5045C>A (p.Thr1682Asn) n.535+6783G>T n.403+6783G>T c.10895C>A (p.Thr3632Asn) c.10775C>A (p.Thr3592Asn) c.10706C>A (p.Thr3569Asn) c.9110C>A (p.Thr3037Asn) n.11246C>A n.3145+6783G>T n.3013+6783G>T | |
6 | g.51659156_51659157insC | CA2679076976 | PKHD1 | c.10969_10970insG (p.Thr3657SerfsTer9) c.10840_10841insG (p.Thr3614SerfsTer9) c.10831_10832insG (p.Thr3611SerfsTer9) c.10327_10328insG (p.Thr3443SerfsTer9) c.10258_10259insG (p.Thr3420SerfsTer9) c.10157-9937_10157-9936insG (n.10157-9937_10157-9936insG) c.5044_5045insG (p.Thr1682SerfsTer9) n.535+6783_535+6784insC n.403+6783_403+6784insC c.10894_10895insG (p.Thr3632SerfsTer9) c.10774_10775insG (p.Thr3592SerfsTer9) c.10705_10706insG (p.Thr3569SerfsTer9) c.9109_9110insG (p.Thr3037SerfsTer9) n.11245_11246insG n.3145+6783_3145+6784insC n.3013+6783_3013+6784insC | gnomAD v4 |
6 | g.51659157T>A | CA364430873 | PKHD1 | c.10969A>T (p.Thr3657Ser) c.10840A>T (p.Thr3614Ser) c.10831A>T (p.Thr3611Ser) c.10327A>T (p.Thr3443Ser) c.10258A>T (p.Thr3420Ser) c.10157-9937A>T (n.10157-9937A>T) c.5044A>T (p.Thr1682Ser) n.535+6784T>A n.403+6784T>A c.10894A>T (p.Thr3632Ser) c.10774A>T (p.Thr3592Ser) c.10705A>T (p.Thr3569Ser) c.9109A>T (p.Thr3037Ser) n.11245A>T n.3145+6784T>A n.3013+6784T>A | |
6 | g.51659157T>C | CA364430876 | PKHD1 | c.10969A>G (p.Thr3657Ala) c.10840A>G (p.Thr3614Ala) c.10831A>G (p.Thr3611Ala) c.10327A>G (p.Thr3443Ala) c.10258A>G (p.Thr3420Ala) c.10157-9937A>G (n.10157-9937A>G) c.5044A>G (p.Thr1682Ala) n.535+6784T>C n.403+6784T>C c.10894A>G (p.Thr3632Ala) c.10774A>G (p.Thr3592Ala) c.10705A>G (p.Thr3569Ala) c.9109A>G (p.Thr3037Ala) n.11245A>G n.3145+6784T>C n.3013+6784T>C | |
6 | g.51659157T>G | CA364430879 | PKHD1 | c.10969A>C (p.Thr3657Pro) c.10840A>C (p.Thr3614Pro) c.10831A>C (p.Thr3611Pro) c.10327A>C (p.Thr3443Pro) c.10258A>C (p.Thr3420Pro) c.10157-9937A>C (n.10157-9937A>C) c.5044A>C (p.Thr1682Pro) n.535+6784T>G n.403+6784T>G c.10894A>C (p.Thr3632Pro) c.10774A>C (p.Thr3592Pro) c.10705A>C (p.Thr3569Pro) c.9109A>C (p.Thr3037Pro) n.11245A>C n.3145+6784T>G n.3013+6784T>G | |
6 | g.51659158T>A | CA364430883 | PKHD1 | c.10968A>T (p.Glu3656Asp) c.10839A>T (p.Glu3613Asp) c.10830A>T (p.Glu3610Asp) c.10326A>T (p.Glu3442Asp) c.10257A>T (p.Glu3419Asp) c.10157-9938A>T (n.10157-9938A>T) c.5043A>T (p.Glu1681Asp) n.535+6785T>A n.403+6785T>A c.10893A>T (p.Glu3631Asp) c.10773A>T (p.Glu3591Asp) c.10704A>T (p.Glu3568Asp) c.9108A>T (p.Glu3036Asp) n.11244A>T n.3145+6785T>A n.3013+6785T>A | |
6 | g.51659158T>C | CA450612757 | PKHD1 | c.10968A>G (p.Glu3656=) c.10839A>G (p.Glu3613=) c.10830A>G (p.Glu3610=) c.10326A>G (p.Glu3442=) c.10257A>G (p.Glu3419=) c.10157-9938A>G (n.10157-9938A>G) c.5043A>G (p.Glu1681=) n.535+6785T>C n.403+6785T>C c.10893A>G (p.Glu3631=) c.10773A>G (p.Glu3591=) c.10704A>G (p.Glu3568=) c.9108A>G (p.Glu3036=) n.11244A>G n.3145+6785T>C n.3013+6785T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659158T>G | CA364430885 | PKHD1 | c.10968A>C (p.Glu3656Asp) c.10839A>C (p.Glu3613Asp) c.10830A>C (p.Glu3610Asp) c.10326A>C (p.Glu3442Asp) c.10257A>C (p.Glu3419Asp) c.10157-9938A>C (n.10157-9938A>C) c.5043A>C (p.Glu1681Asp) n.535+6785T>G n.403+6785T>G c.10893A>C (p.Glu3631Asp) c.10773A>C (p.Glu3591Asp) c.10704A>C (p.Glu3568Asp) c.9108A>C (p.Glu3036Asp) n.11244A>C n.3145+6785T>G n.3013+6785T>G | |
6 | g.51659158T= | CA1628438490 | PKHD1 | c.10968A= (p.Glu3656=) c.10839A= (p.Glu3613=) c.10830A= (p.Glu3610=) c.10326A= (p.Glu3442=) c.10257A= (p.Glu3419=) c.10157-9938A= (n.10157-9938A=) c.5043A= (p.Glu1681=) n.535+6785T= n.403+6785T= c.10893A= (p.Glu3631=) c.10773A= (p.Glu3591=) c.10704A= (p.Glu3568=) c.9108A= (p.Glu3036=) n.11244A= n.3145+6785T= n.3013+6785T= |