Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51748030_51748033del | CA913110676 | PKHD1 | c.9583_9586del (p.Lys3195CysfsTer24) c.9454_9457del (p.Lys3152CysfsTer24) c.9445_9448del (p.Lys3149CysfsTer24) c.8941_8944del (p.Lys2981CysfsTer24) c.8872_8875del (p.Lys2958CysfsTer24) c.3658_3661del (p.Lys1220CysfsTer24) c.9508_9511del (p.Lys3170CysfsTer24) c.9388_9391del (p.Lys3130CysfsTer24) c.9319_9322del (p.Lys3107CysfsTer24) c.7723_7726del (p.Lys2575CysfsTer24) n.9859_9862del | |
6 | g.51748030_51748033delinsCTTT | CA1628502333 | PKHD1 | c.9583_9586delinsAAAG (p.Lys3195=) c.9454_9457delinsAAAG (p.Lys3152=) c.9445_9448delinsAAAG (p.Lys3149=) c.8941_8944delinsAAAG (p.Lys2981=) c.8872_8875delinsAAAG (p.Lys2958=) c.3658_3661delinsAAAG (p.Lys1220=) c.9508_9511delinsAAAG (p.Lys3170=) c.9388_9391delinsAAAG (p.Lys3130=) c.9319_9322delinsAAAG (p.Lys3107=) c.7723_7726delinsAAAG (p.Lys2575=) n.9859_9862delinsAAAG | |
6 | g.51748036dup | CA1628502340 | PKHD1 | c.9585dup (p.Val3196SerfsTer6) c.9456dup (p.Val3153SerfsTer6) c.9447dup (p.Val3150SerfsTer6) c.8943dup (p.Val2982SerfsTer6) c.8874dup (p.Val2959SerfsTer6) c.3660dup (p.Val1221SerfsTer6) c.9510dup (p.Val3171SerfsTer6) c.9390dup (p.Val3131SerfsTer6) c.9321dup (p.Val3108SerfsTer6) c.7725dup (p.Val2576SerfsTer6) n.9861dup | dbSNP |
6 | g.51748035_51748036del | CA2695198857 | PKHD1 | c.9584_9585del (p.Lys3195SerfsTer6) c.9455_9456del (p.Lys3152SerfsTer6) c.9446_9447del (p.Lys3149SerfsTer6) c.8942_8943del (p.Lys2981SerfsTer6) c.8873_8874del (p.Lys2958SerfsTer6) c.3659_3660del (p.Lys1220SerfsTer6) c.9509_9510del (p.Lys3170SerfsTer6) c.9389_9390del (p.Lys3130SerfsTer6) c.9320_9321del (p.Lys3107SerfsTer6) c.7724_7725del (p.Lys2575SerfsTer6) n.9860_9861del | ClinVar |
6 | g.51748034_51748036del | CA658821794 | PKHD1 | c.9583_9585del (p.Lys3195del) c.9454_9456del (p.Lys3152del) c.9445_9447del (p.Lys3149del) c.8941_8943del (p.Lys2981del) c.8872_8874del (p.Lys2958del) c.3658_3660del (p.Lys1220del) c.9508_9510del (p.Lys3170del) c.9388_9390del (p.Lys3130del) c.9319_9321del (p.Lys3107del) c.7723_7725del (p.Lys2575del) n.9859_9861del | ClinVar dbSNP gnomAD v4 |
6 | g.51748032T>A | CA364420755 | PKHD1 | c.9584A>T (p.Lys3195Ile) c.9455A>T (p.Lys3152Ile) c.9446A>T (p.Lys3149Ile) c.8942A>T (p.Lys2981Ile) c.8873A>T (p.Lys2958Ile) c.3659A>T (p.Lys1220Ile) c.9509A>T (p.Lys3170Ile) c.9389A>T (p.Lys3130Ile) c.9320A>T (p.Lys3107Ile) c.7724A>T (p.Lys2575Ile) n.9860A>T | gnomAD v4 |
6 | g.51748032T>C | CA364420753 | PKHD1 | c.9584A>G (p.Lys3195Arg) c.9455A>G (p.Lys3152Arg) c.9446A>G (p.Lys3149Arg) c.8942A>G (p.Lys2981Arg) c.8873A>G (p.Lys2958Arg) c.3659A>G (p.Lys1220Arg) c.9509A>G (p.Lys3170Arg) c.9389A>G (p.Lys3130Arg) c.9320A>G (p.Lys3107Arg) c.7724A>G (p.Lys2575Arg) n.9860A>G | |
6 | g.51748032T>G | CA364420754 | PKHD1 | c.9584A>C (p.Lys3195Thr) c.9455A>C (p.Lys3152Thr) c.9446A>C (p.Lys3149Thr) c.8942A>C (p.Lys2981Thr) c.8873A>C (p.Lys2958Thr) c.3659A>C (p.Lys1220Thr) c.9509A>C (p.Lys3170Thr) c.9389A>C (p.Lys3130Thr) c.9320A>C (p.Lys3107Thr) c.7724A>C (p.Lys2575Thr) n.9860A>C | |
6 | g.51748033T>A | CA364420756 | PKHD1 | c.9583A>T (p.Lys3195Ter) c.9454A>T (p.Lys3152Ter) c.9445A>T (p.Lys3149Ter) c.8941A>T (p.Lys2981Ter) c.8872A>T (p.Lys2958Ter) c.3658A>T (p.Lys1220Ter) c.9508A>T (p.Lys3170Ter) c.9388A>T (p.Lys3130Ter) c.9319A>T (p.Lys3107Ter) c.7723A>T (p.Lys2575Ter) n.9859A>T | |
6 | g.51748033T>C | CA364420758 | PKHD1 | c.9583A>G (p.Lys3195Glu) c.9454A>G (p.Lys3152Glu) c.9445A>G (p.Lys3149Glu) c.8941A>G (p.Lys2981Glu) c.8872A>G (p.Lys2958Glu) c.3658A>G (p.Lys1220Glu) c.9508A>G (p.Lys3170Glu) c.9388A>G (p.Lys3130Glu) c.9319A>G (p.Lys3107Glu) c.7723A>G (p.Lys2575Glu) n.9859A>G | gnomAD v4 |
6 | g.51748033T>G | CA364420757 | PKHD1 | c.9583A>C (p.Lys3195Gln) c.9454A>C (p.Lys3152Gln) c.9445A>C (p.Lys3149Gln) c.8941A>C (p.Lys2981Gln) c.8872A>C (p.Lys2958Gln) c.3658A>C (p.Lys1220Gln) c.9508A>C (p.Lys3170Gln) c.9388A>C (p.Lys3130Gln) c.9319A>C (p.Lys3107Gln) c.7723A>C (p.Lys2575Gln) n.9859A>C | |
6 | g.51748034T>A | CA364420759 | PKHD1 | c.9582A>T (p.Lys3194Asn) c.9453A>T (p.Lys3151Asn) c.9444A>T (p.Lys3148Asn) c.8940A>T (p.Lys2980Asn) c.8871A>T (p.Lys2957Asn) c.3657A>T (p.Lys1219Asn) c.9507A>T (p.Lys3169Asn) c.9387A>T (p.Lys3129Asn) c.9318A>T (p.Lys3106Asn) c.7722A>T (p.Lys2574Asn) n.9858A>T | |
6 | g.51748034T>C | CA450613726 | PKHD1 | c.9582A>G (p.Lys3194=) c.9453A>G (p.Lys3151=) c.9444A>G (p.Lys3148=) c.8940A>G (p.Lys2980=) c.8871A>G (p.Lys2957=) c.3657A>G (p.Lys1219=) c.9507A>G (p.Lys3169=) c.9387A>G (p.Lys3129=) c.9318A>G (p.Lys3106=) c.7722A>G (p.Lys2574=) n.9858A>G | ClinVar |
6 | g.51748034T>G | CA364420760 | PKHD1 | c.9582A>C (p.Lys3194Asn) c.9453A>C (p.Lys3151Asn) c.9444A>C (p.Lys3148Asn) c.8940A>C (p.Lys2980Asn) c.8871A>C (p.Lys2957Asn) c.3657A>C (p.Lys1219Asn) c.9507A>C (p.Lys3169Asn) c.9387A>C (p.Lys3129Asn) c.9318A>C (p.Lys3106Asn) c.7722A>C (p.Lys2574Asn) n.9858A>C | |
6 | g.51748035T>A | CA364420761 | PKHD1 | c.9581A>T (p.Lys3194Ile) c.9452A>T (p.Lys3151Ile) c.9443A>T (p.Lys3148Ile) c.8939A>T (p.Lys2980Ile) c.8870A>T (p.Lys2957Ile) c.3656A>T (p.Lys1219Ile) c.9506A>T (p.Lys3169Ile) c.9386A>T (p.Lys3129Ile) c.9317A>T (p.Lys3106Ile) c.7721A>T (p.Lys2574Ile) n.9857A>T | |
6 | g.51748035T>C | CA364420762 | PKHD1 | c.9581A>G (p.Lys3194Arg) c.9452A>G (p.Lys3151Arg) c.9443A>G (p.Lys3148Arg) c.8939A>G (p.Lys2980Arg) c.8870A>G (p.Lys2957Arg) c.3656A>G (p.Lys1219Arg) c.9506A>G (p.Lys3169Arg) c.9386A>G (p.Lys3129Arg) c.9317A>G (p.Lys3106Arg) c.7721A>G (p.Lys2574Arg) n.9857A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748035T>G | CA364420763 | PKHD1 | c.9581A>C (p.Lys3194Thr) c.9452A>C (p.Lys3151Thr) c.9443A>C (p.Lys3148Thr) c.8939A>C (p.Lys2980Thr) c.8870A>C (p.Lys2957Thr) c.3656A>C (p.Lys1219Thr) c.9506A>C (p.Lys3169Thr) c.9386A>C (p.Lys3129Thr) c.9317A>C (p.Lys3106Thr) c.7721A>C (p.Lys2574Thr) n.9857A>C | |
6 | g.51748035T= | CA1628502348 | PKHD1 | c.9581A= (p.Lys3194=) c.9452A= (p.Lys3151=) c.9443A= (p.Lys3148=) c.8939A= (p.Lys2980=) c.8870A= (p.Lys2957=) c.3656A= (p.Lys1219=) c.9506A= (p.Lys3169=) c.9386A= (p.Lys3129=) c.9317A= (p.Lys3106=) c.7721A= (p.Lys2574=) n.9857A= | |
6 | g.51748036T>A | CA364420764 | PKHD1 | c.9580A>T (p.Lys3194Ter) c.9451A>T (p.Lys3151Ter) c.9442A>T (p.Lys3148Ter) c.8938A>T (p.Lys2980Ter) c.8869A>T (p.Lys2957Ter) c.3655A>T (p.Lys1219Ter) c.9505A>T (p.Lys3169Ter) c.9385A>T (p.Lys3129Ter) c.9316A>T (p.Lys3106Ter) c.7720A>T (p.Lys2574Ter) n.9856A>T | |
6 | g.51748036T>C | CA3851367 | PKHD1 | c.9580A>G (p.Lys3194Glu) c.9451A>G (p.Lys3151Glu) c.9442A>G (p.Lys3148Glu) c.8938A>G (p.Lys2980Glu) c.8869A>G (p.Lys2957Glu) c.3655A>G (p.Lys1219Glu) c.9505A>G (p.Lys3169Glu) c.9385A>G (p.Lys3129Glu) c.9316A>G (p.Lys3106Glu) c.7720A>G (p.Lys2574Glu) n.9856A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748036T>G | CA364420765 | PKHD1 | c.9580A>C (p.Lys3194Gln) c.9451A>C (p.Lys3151Gln) c.9442A>C (p.Lys3148Gln) c.8938A>C (p.Lys2980Gln) c.8869A>C (p.Lys2957Gln) c.3655A>C (p.Lys1219Gln) c.9505A>C (p.Lys3169Gln) c.9385A>C (p.Lys3129Gln) c.9316A>C (p.Lys3106Gln) c.7720A>C (p.Lys2574Gln) n.9856A>C | |
6 | g.51748036T= | CA1628502353 | PKHD1 | c.9580A= (p.Lys3194=) c.9451A= (p.Lys3151=) c.9442A= (p.Lys3148=) c.8938A= (p.Lys2980=) c.8869A= (p.Lys2957=) c.3655A= (p.Lys1219=) c.9505A= (p.Lys3169=) c.9385A= (p.Lys3129=) c.9316A= (p.Lys3106=) c.7720A= (p.Lys2574=) n.9856A= | |
6 | g.51748037G>A | CA450613729 | PKHD1 | c.9579C>T (p.Val3193=) c.9450C>T (p.Val3150=) c.9441C>T (p.Val3147=) c.8937C>T (p.Val2979=) c.8868C>T (p.Val2956=) c.3654C>T (p.Val1218=) c.9504C>T (p.Val3168=) c.9384C>T (p.Val3128=) c.9315C>T (p.Val3105=) c.7719C>T (p.Val2573=) n.9855C>T | |
6 | g.51748037G>C | CA450613730 | PKHD1 | c.9579C>G (p.Val3193=) c.9450C>G (p.Val3150=) c.9441C>G (p.Val3147=) c.8937C>G (p.Val2979=) c.8868C>G (p.Val2956=) c.3654C>G (p.Val1218=) c.9504C>G (p.Val3168=) c.9384C>G (p.Val3128=) c.9315C>G (p.Val3105=) c.7719C>G (p.Val2573=) n.9855C>G | gnomAD v4 |
6 | g.51748037G>T | CA450613732 | PKHD1 | c.9579C>A (p.Val3193=) c.9450C>A (p.Val3150=) c.9441C>A (p.Val3147=) c.8937C>A (p.Val2979=) c.8868C>A (p.Val2956=) c.3654C>A (p.Val1218=) c.9504C>A (p.Val3168=) c.9384C>A (p.Val3128=) c.9315C>A (p.Val3105=) c.7719C>A (p.Val2573=) n.9855C>A | |
6 | g.51748038A>C | CA364420766 | PKHD1 | c.9578T>G (p.Val3193Gly) c.9449T>G (p.Val3150Gly) c.9440T>G (p.Val3147Gly) c.8936T>G (p.Val2979Gly) c.8867T>G (p.Val2956Gly) c.3653T>G (p.Val1218Gly) c.9503T>G (p.Val3168Gly) c.9383T>G (p.Val3128Gly) c.9314T>G (p.Val3105Gly) c.7718T>G (p.Val2573Gly) n.9854T>G | |
6 | g.51748038A>G | CA364420767 | PKHD1 | c.9578T>C (p.Val3193Ala) c.9449T>C (p.Val3150Ala) c.9440T>C (p.Val3147Ala) c.8936T>C (p.Val2979Ala) c.8867T>C (p.Val2956Ala) c.3653T>C (p.Val1218Ala) c.9503T>C (p.Val3168Ala) c.9383T>C (p.Val3128Ala) c.9314T>C (p.Val3105Ala) c.7718T>C (p.Val2573Ala) n.9854T>C | |
6 | g.51748038A>T | CA364420768 | PKHD1 | c.9578T>A (p.Val3193Asp) c.9449T>A (p.Val3150Asp) c.9440T>A (p.Val3147Asp) c.8936T>A (p.Val2979Asp) c.8867T>A (p.Val2956Asp) c.3653T>A (p.Val1218Asp) c.9503T>A (p.Val3168Asp) c.9383T>A (p.Val3128Asp) c.9314T>A (p.Val3105Asp) c.7718T>A (p.Val2573Asp) n.9854T>A | |
6 | g.51748039C>A | CA364420770 | PKHD1 | c.9577G>T (p.Val3193Phe) c.9448G>T (p.Val3150Phe) c.9439G>T (p.Val3147Phe) c.8935G>T (p.Val2979Phe) c.8866G>T (p.Val2956Phe) c.3652G>T (p.Val1218Phe) c.9502G>T (p.Val3168Phe) c.9382G>T (p.Val3128Phe) c.9313G>T (p.Val3105Phe) c.7717G>T (p.Val2573Phe) n.9853G>T | |
6 | g.51748039C= | CA1628502359 | PKHD1 | c.9577G= (p.Val3193=) c.9448G= (p.Val3150=) c.9439G= (p.Val3147=) c.8935G= (p.Val2979=) c.8866G= (p.Val2956=) c.3652G= (p.Val1218=) c.9502G= (p.Val3168=) c.9382G= (p.Val3128=) c.9313G= (p.Val3105=) c.7717G= (p.Val2573=) n.9853G= | |
6 | g.51748039C>G | CA364420769 | PKHD1 | c.9577G>C (p.Val3193Leu) c.9448G>C (p.Val3150Leu) c.9439G>C (p.Val3147Leu) c.8935G>C (p.Val2979Leu) c.8866G>C (p.Val2956Leu) c.3652G>C (p.Val1218Leu) c.9502G>C (p.Val3168Leu) c.9382G>C (p.Val3128Leu) c.9313G>C (p.Val3105Leu) c.7717G>C (p.Val2573Leu) n.9853G>C | |
6 | g.51748039C>T | CA348314 | PKHD1 | c.9577G>A (p.Val3193Ile) c.9448G>A (p.Val3150Ile) c.9439G>A (p.Val3147Ile) c.8935G>A (p.Val2979Ile) c.8866G>A (p.Val2956Ile) c.3652G>A (p.Val1218Ile) c.9502G>A (p.Val3168Ile) c.9382G>A (p.Val3128Ile) c.9313G>A (p.Val3105Ile) c.7717G>A (p.Val2573Ile) n.9853G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.51748040G>A | CA3851368 | PKHD1 | c.9576C>T (p.Ser3192=) c.9447C>T (p.Ser3149=) c.9438C>T (p.Ser3146=) c.8934C>T (p.Ser2978=) c.8865C>T (p.Ser2955=) c.3651C>T (p.Ser1217=) c.9501C>T (p.Ser3167=) c.9381C>T (p.Ser3127=) c.9312C>T (p.Ser3104=) c.7716C>T (p.Ser2572=) n.9852C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748040G>C | CA450613736 | PKHD1 | c.9576C>G (p.Ser3192=) c.9447C>G (p.Ser3149=) c.9438C>G (p.Ser3146=) c.8934C>G (p.Ser2978=) c.8865C>G (p.Ser2955=) c.3651C>G (p.Ser1217=) c.9501C>G (p.Ser3167=) c.9381C>G (p.Ser3127=) c.9312C>G (p.Ser3104=) c.7716C>G (p.Ser2572=) n.9852C>G | COSMIC |
6 | g.51748040G= | CA1628502368 | PKHD1 | c.9576C= (p.Ser3192=) c.9447C= (p.Ser3149=) c.9438C= (p.Ser3146=) c.8934C= (p.Ser2978=) c.8865C= (p.Ser2955=) c.3651C= (p.Ser1217=) c.9501C= (p.Ser3167=) c.9381C= (p.Ser3127=) c.9312C= (p.Ser3104=) c.7716C= (p.Ser2572=) n.9852C= | |
6 | g.51748040G>T | CA450613738 | PKHD1 | c.9576C>A (p.Ser3192=) c.9447C>A (p.Ser3149=) c.9438C>A (p.Ser3146=) c.8934C>A (p.Ser2978=) c.8865C>A (p.Ser2955=) c.3651C>A (p.Ser1217=) c.9501C>A (p.Ser3167=) c.9381C>A (p.Ser3127=) c.9312C>A (p.Ser3104=) c.7716C>A (p.Ser2572=) n.9852C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748041dup | CA2695206426 | PKHD1 | c.9576dup (p.Val3193ArgfsTer9) c.9447dup (p.Val3150ArgfsTer9) c.9438dup (p.Val3147ArgfsTer9) c.8934dup (p.Val2979ArgfsTer9) c.8865dup (p.Val2956ArgfsTer9) c.3651dup (p.Val1218ArgfsTer9) c.9501dup (p.Val3168ArgfsTer9) c.9381dup (p.Val3128ArgfsTer9) c.9312dup (p.Val3105ArgfsTer9) c.7716dup (p.Val2573ArgfsTer9) n.9852dup | |
6 | g.51748041G>A | CA138896033 | PKHD1 | c.9575C>T (p.Ser3192Phe) c.9446C>T (p.Ser3149Phe) c.9437C>T (p.Ser3146Phe) c.8933C>T (p.Ser2978Phe) c.8864C>T (p.Ser2955Phe) c.3650C>T (p.Ser1217Phe) c.9500C>T (p.Ser3167Phe) c.9380C>T (p.Ser3127Phe) c.9311C>T (p.Ser3104Phe) c.7715C>T (p.Ser2572Phe) n.9851C>T | dbSNP |
6 | g.51748041G>C | CA364420771 | PKHD1 | c.9575C>G (p.Ser3192Cys) c.9446C>G (p.Ser3149Cys) c.9437C>G (p.Ser3146Cys) c.8933C>G (p.Ser2978Cys) c.8864C>G (p.Ser2955Cys) c.3650C>G (p.Ser1217Cys) c.9500C>G (p.Ser3167Cys) c.9380C>G (p.Ser3127Cys) c.9311C>G (p.Ser3104Cys) c.7715C>G (p.Ser2572Cys) n.9851C>G | |
6 | g.51748041G= | CA1628502376 | PKHD1 | c.9575C= (p.Ser3192=) c.9446C= (p.Ser3149=) c.9437C= (p.Ser3146=) c.8933C= (p.Ser2978=) c.8864C= (p.Ser2955=) c.3650C= (p.Ser1217=) c.9500C= (p.Ser3167=) c.9380C= (p.Ser3127=) c.9311C= (p.Ser3104=) c.7715C= (p.Ser2572=) n.9851C= | |
6 | g.51748041G>T | CA364420772 | PKHD1 | c.9575C>A (p.Ser3192Tyr) c.9446C>A (p.Ser3149Tyr) c.9437C>A (p.Ser3146Tyr) c.8933C>A (p.Ser2978Tyr) c.8864C>A (p.Ser2955Tyr) c.3650C>A (p.Ser1217Tyr) c.9500C>A (p.Ser3167Tyr) c.9380C>A (p.Ser3127Tyr) c.9311C>A (p.Ser3104Tyr) c.7715C>A (p.Ser2572Tyr) n.9851C>A | COSMIC COSMIC |
6 | g.51748042A>C | CA364420773 | PKHD1 | c.9574T>G (p.Ser3192Ala) c.9445T>G (p.Ser3149Ala) c.9436T>G (p.Ser3146Ala) c.8932T>G (p.Ser2978Ala) c.8863T>G (p.Ser2955Ala) c.3649T>G (p.Ser1217Ala) c.9499T>G (p.Ser3167Ala) c.9379T>G (p.Ser3127Ala) c.9310T>G (p.Ser3104Ala) c.7714T>G (p.Ser2572Ala) n.9850T>G | |
6 | g.51748042A>G | CA364420774 | PKHD1 | c.9574T>C (p.Ser3192Pro) c.9445T>C (p.Ser3149Pro) c.9436T>C (p.Ser3146Pro) c.8932T>C (p.Ser2978Pro) c.8863T>C (p.Ser2955Pro) c.3649T>C (p.Ser1217Pro) c.9499T>C (p.Ser3167Pro) c.9379T>C (p.Ser3127Pro) c.9310T>C (p.Ser3104Pro) c.7714T>C (p.Ser2572Pro) n.9850T>C | |
6 | g.51748042A>T | CA364420775 | PKHD1 | c.9574T>A (p.Ser3192Thr) c.9445T>A (p.Ser3149Thr) c.9436T>A (p.Ser3146Thr) c.8932T>A (p.Ser2978Thr) c.8863T>A (p.Ser2955Thr) c.3649T>A (p.Ser1217Thr) c.9499T>A (p.Ser3167Thr) c.9379T>A (p.Ser3127Thr) c.9310T>A (p.Ser3104Thr) c.7714T>A (p.Ser2572Thr) n.9850T>A | |
6 | g.51748043A>C | CA364420776 | PKHD1 | c.9573T>G (p.Asn3191Lys) c.9444T>G (p.Asn3148Lys) c.9435T>G (p.Asn3145Lys) c.8931T>G (p.Asn2977Lys) c.8862T>G (p.Asn2954Lys) c.3648T>G (p.Asn1216Lys) c.9498T>G (p.Asn3166Lys) c.9378T>G (p.Asn3126Lys) c.9309T>G (p.Asn3103Lys) c.7713T>G (p.Asn2571Lys) n.9849T>G | |
6 | g.51748043A>G | CA450613745 | PKHD1 | c.9573T>C (p.Asn3191=) c.9444T>C (p.Asn3148=) c.9435T>C (p.Asn3145=) c.8931T>C (p.Asn2977=) c.8862T>C (p.Asn2954=) c.3648T>C (p.Asn1216=) c.9498T>C (p.Asn3166=) c.9378T>C (p.Asn3126=) c.9309T>C (p.Asn3103=) c.7713T>C (p.Asn2571=) n.9849T>C | dbSNP |
6 | g.51748043A>T | CA364420777 | PKHD1 | c.9573T>A (p.Asn3191Lys) c.9444T>A (p.Asn3148Lys) c.9435T>A (p.Asn3145Lys) c.8931T>A (p.Asn2977Lys) c.8862T>A (p.Asn2954Lys) c.3648T>A (p.Asn1216Lys) c.9498T>A (p.Asn3166Lys) c.9378T>A (p.Asn3126Lys) c.9309T>A (p.Asn3103Lys) c.7713T>A (p.Asn2571Lys) n.9849T>A | |
6 | g.51748044T>A | CA364420778 | PKHD1 | c.9572A>T (p.Asn3191Ile) c.9443A>T (p.Asn3148Ile) c.9434A>T (p.Asn3145Ile) c.8930A>T (p.Asn2977Ile) c.8861A>T (p.Asn2954Ile) c.3647A>T (p.Asn1216Ile) c.9497A>T (p.Asn3166Ile) c.9377A>T (p.Asn3126Ile) c.9308A>T (p.Asn3103Ile) c.7712A>T (p.Asn2571Ile) n.9848A>T | |
6 | g.51748044T>C | CA364420779 | PKHD1 | c.9572A>G (p.Asn3191Ser) c.9443A>G (p.Asn3148Ser) c.9434A>G (p.Asn3145Ser) c.8930A>G (p.Asn2977Ser) c.8861A>G (p.Asn2954Ser) c.3647A>G (p.Asn1216Ser) c.9497A>G (p.Asn3166Ser) c.9377A>G (p.Asn3126Ser) c.9308A>G (p.Asn3103Ser) c.7712A>G (p.Asn2571Ser) n.9848A>G | dbSNP |
6 | g.51748044T>G | CA364420780 | PKHD1 | c.9572A>C (p.Asn3191Thr) c.9443A>C (p.Asn3148Thr) c.9434A>C (p.Asn3145Thr) c.8930A>C (p.Asn2977Thr) c.8861A>C (p.Asn2954Thr) c.3647A>C (p.Asn1216Thr) c.9497A>C (p.Asn3166Thr) c.9377A>C (p.Asn3126Thr) c.9308A>C (p.Asn3103Thr) c.7712A>C (p.Asn2571Thr) n.9848A>C | |
6 | g.51748045T>A | CA364420782 | PKHD1 | c.9571A>T (p.Asn3191Tyr) c.9442A>T (p.Asn3148Tyr) c.9433A>T (p.Asn3145Tyr) c.8929A>T (p.Asn2977Tyr) c.8860A>T (p.Asn2954Tyr) c.3646A>T (p.Asn1216Tyr) c.9496A>T (p.Asn3166Tyr) c.9376A>T (p.Asn3126Tyr) c.9307A>T (p.Asn3103Tyr) c.7711A>T (p.Asn2571Tyr) n.9847A>T | |
6 | g.51748045T>C | CA364420781 | PKHD1 | c.9571A>G (p.Asn3191Asp) c.9442A>G (p.Asn3148Asp) c.9433A>G (p.Asn3145Asp) c.8929A>G (p.Asn2977Asp) c.8860A>G (p.Asn2954Asp) c.3646A>G (p.Asn1216Asp) c.9496A>G (p.Asn3166Asp) c.9376A>G (p.Asn3126Asp) c.9307A>G (p.Asn3103Asp) c.7711A>G (p.Asn2571Asp) n.9847A>G | |
6 | g.51748045T>G | CA3851369 | PKHD1 | c.9571A>C (p.Asn3191His) c.9442A>C (p.Asn3148His) c.9433A>C (p.Asn3145His) c.8929A>C (p.Asn2977His) c.8860A>C (p.Asn2954His) c.3646A>C (p.Asn1216His) c.9496A>C (p.Asn3166His) c.9376A>C (p.Asn3126His) c.9307A>C (p.Asn3103His) c.7711A>C (p.Asn2571His) n.9847A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748045T= | CA1628502383 | PKHD1 | c.9571A= (p.Asn3191=) c.9442A= (p.Asn3148=) c.9433A= (p.Asn3145=) c.8929A= (p.Asn2977=) c.8860A= (p.Asn2954=) c.3646A= (p.Asn1216=) c.9496A= (p.Asn3166=) c.9376A= (p.Asn3126=) c.9307A= (p.Asn3103=) c.7711A= (p.Asn2571=) n.9847A= | |
6 | g.51748046T>A | CA364420784 | PKHD1 | c.9570A>T (p.Gln3190His) c.9441A>T (p.Gln3147His) c.9432A>T (p.Gln3144His) c.8928A>T (p.Gln2976His) c.8859A>T (p.Gln2953His) c.3645A>T (p.Gln1215His) c.9495A>T (p.Gln3165His) c.9375A>T (p.Gln3125His) c.9306A>T (p.Gln3102His) c.7710A>T (p.Gln2570His) n.9846A>T | gnomAD v4 |
6 | g.51748046T>C | CA450613366 | PKHD1 | c.9570A>G (p.Gln3190=) c.9441A>G (p.Gln3147=) c.9432A>G (p.Gln3144=) c.8928A>G (p.Gln2976=) c.8859A>G (p.Gln2953=) c.3645A>G (p.Gln1215=) c.9495A>G (p.Gln3165=) c.9375A>G (p.Gln3125=) c.9306A>G (p.Gln3102=) c.7710A>G (p.Gln2570=) n.9846A>G | |
6 | g.51748046T>G | CA364420783 | PKHD1 | c.9570A>C (p.Gln3190His) c.9441A>C (p.Gln3147His) c.9432A>C (p.Gln3144His) c.8928A>C (p.Gln2976His) c.8859A>C (p.Gln2953His) c.3645A>C (p.Gln1215His) c.9495A>C (p.Gln3165His) c.9375A>C (p.Gln3125His) c.9306A>C (p.Gln3102His) c.7710A>C (p.Gln2570His) n.9846A>C | |
6 | g.51748046_51748047insAACAC | CA2512744512 | PKHD1 | c.9569_9570insGTGTT (p.Asn3191CysfsTer2) c.9440_9441insGTGTT (p.Asn3148CysfsTer2) c.9431_9432insGTGTT (p.Asn3145CysfsTer2) c.8927_8928insGTGTT (p.Asn2977CysfsTer2) c.8858_8859insGTGTT (p.Asn2954CysfsTer2) c.3644_3645insGTGTT (p.Asn1216CysfsTer2) c.9494_9495insGTGTT (p.Asn3166CysfsTer2) c.9374_9375insGTGTT (p.Asn3126CysfsTer2) c.9305_9306insGTGTT (p.Asn3103CysfsTer2) c.7709_7710insGTGTT (p.Asn2571CysfsTer2) n.9845_9846insGTGTT | |
6 | g.51748047T>A | CA364420785 | PKHD1 | c.9569A>T (p.Gln3190Leu) c.9440A>T (p.Gln3147Leu) c.9431A>T (p.Gln3144Leu) c.8927A>T (p.Gln2976Leu) c.8858A>T (p.Gln2953Leu) c.3644A>T (p.Gln1215Leu) c.9494A>T (p.Gln3165Leu) c.9374A>T (p.Gln3125Leu) c.9305A>T (p.Gln3102Leu) c.7709A>T (p.Gln2570Leu) n.9845A>T | |
6 | g.51748047T>C | CA364420786 | PKHD1 | c.9569A>G (p.Gln3190Arg) c.9440A>G (p.Gln3147Arg) c.9431A>G (p.Gln3144Arg) c.8927A>G (p.Gln2976Arg) c.8858A>G (p.Gln2953Arg) c.3644A>G (p.Gln1215Arg) c.9494A>G (p.Gln3165Arg) c.9374A>G (p.Gln3125Arg) c.9305A>G (p.Gln3102Arg) c.7709A>G (p.Gln2570Arg) n.9845A>G | |
6 | g.51748047T>G | CA364420787 | PKHD1 | c.9569A>C (p.Gln3190Pro) c.9440A>C (p.Gln3147Pro) c.9431A>C (p.Gln3144Pro) c.8927A>C (p.Gln2976Pro) c.8858A>C (p.Gln2953Pro) c.3644A>C (p.Gln1215Pro) c.9494A>C (p.Gln3165Pro) c.9374A>C (p.Gln3125Pro) c.9305A>C (p.Gln3102Pro) c.7709A>C (p.Gln2570Pro) n.9845A>C | |
6 | g.51748048G>A | CA364420788 | PKHD1 | c.9568C>T (p.Gln3190Ter) c.9439C>T (p.Gln3147Ter) c.9430C>T (p.Gln3144Ter) c.8926C>T (p.Gln2976Ter) c.8857C>T (p.Gln2953Ter) c.3643C>T (p.Gln1215Ter) c.9493C>T (p.Gln3165Ter) c.9373C>T (p.Gln3125Ter) c.9304C>T (p.Gln3102Ter) c.7708C>T (p.Gln2570Ter) n.9844C>T | ClinVar |
6 | g.51748048G>C | CA364420789 | PKHD1 | c.9568C>G (p.Gln3190Glu) c.9439C>G (p.Gln3147Glu) c.9430C>G (p.Gln3144Glu) c.8926C>G (p.Gln2976Glu) c.8857C>G (p.Gln2953Glu) c.3643C>G (p.Gln1215Glu) c.9493C>G (p.Gln3165Glu) c.9373C>G (p.Gln3125Glu) c.9304C>G (p.Gln3102Glu) c.7708C>G (p.Gln2570Glu) n.9844C>G | |
6 | g.51748048G>T | CA364420790 | PKHD1 | c.9568C>A (p.Gln3190Lys) c.9439C>A (p.Gln3147Lys) c.9430C>A (p.Gln3144Lys) c.8926C>A (p.Gln2976Lys) c.8857C>A (p.Gln2953Lys) c.3643C>A (p.Gln1215Lys) c.9493C>A (p.Gln3165Lys) c.9373C>A (p.Gln3125Lys) c.9304C>A (p.Gln3102Lys) c.7708C>A (p.Gln2570Lys) n.9844C>A | |
6 | g.51748049T>A | CA450613373 | PKHD1 | c.9567A>T (p.Pro3189=) c.9438A>T (p.Pro3146=) c.9429A>T (p.Pro3143=) c.8925A>T (p.Pro2975=) c.8856A>T (p.Pro2952=) c.3642A>T (p.Pro1214=) c.9492A>T (p.Pro3164=) c.9372A>T (p.Pro3124=) c.9303A>T (p.Pro3101=) c.7707A>T (p.Pro2569=) n.9843A>T | ClinVar |
6 | g.51748049T>C | CA450613368 | PKHD1 | c.9567A>G (p.Pro3189=) c.9438A>G (p.Pro3146=) c.9429A>G (p.Pro3143=) c.8925A>G (p.Pro2975=) c.8856A>G (p.Pro2952=) c.3642A>G (p.Pro1214=) c.9492A>G (p.Pro3164=) c.9372A>G (p.Pro3124=) c.9303A>G (p.Pro3101=) c.7707A>G (p.Pro2569=) n.9843A>G | |
6 | g.51748049T>G | CA450613369 | PKHD1 | c.9567A>C (p.Pro3189=) c.9438A>C (p.Pro3146=) c.9429A>C (p.Pro3143=) c.8925A>C (p.Pro2975=) c.8856A>C (p.Pro2952=) c.3642A>C (p.Pro1214=) c.9492A>C (p.Pro3164=) c.9372A>C (p.Pro3124=) c.9303A>C (p.Pro3101=) c.7707A>C (p.Pro2569=) n.9843A>C | |
6 | g.51748050G>A | CA364420791 | PKHD1 | c.9566C>T (p.Pro3189Leu) c.9437C>T (p.Pro3146Leu) c.9428C>T (p.Pro3143Leu) c.8924C>T (p.Pro2975Leu) c.8855C>T (p.Pro2952Leu) c.3641C>T (p.Pro1214Leu) c.9491C>T (p.Pro3164Leu) c.9371C>T (p.Pro3124Leu) c.9302C>T (p.Pro3101Leu) c.7706C>T (p.Pro2569Leu) n.9842C>T | |
6 | g.51748050G>C | CA364420792 | PKHD1 | c.9566C>G (p.Pro3189Arg) c.9437C>G (p.Pro3146Arg) c.9428C>G (p.Pro3143Arg) c.8924C>G (p.Pro2975Arg) c.8855C>G (p.Pro2952Arg) c.3641C>G (p.Pro1214Arg) c.9491C>G (p.Pro3164Arg) c.9371C>G (p.Pro3124Arg) c.9302C>G (p.Pro3101Arg) c.7706C>G (p.Pro2569Arg) n.9842C>G | |
6 | g.51748050G>T | CA364420793 | PKHD1 | c.9566C>A (p.Pro3189Gln) c.9437C>A (p.Pro3146Gln) c.9428C>A (p.Pro3143Gln) c.8924C>A (p.Pro2975Gln) c.8855C>A (p.Pro2952Gln) c.3641C>A (p.Pro1214Gln) c.9491C>A (p.Pro3164Gln) c.9371C>A (p.Pro3124Gln) c.9302C>A (p.Pro3101Gln) c.7706C>A (p.Pro2569Gln) n.9842C>A | |
6 | g.51748051G>A | CA364420794 | PKHD1 | c.9565C>T (p.Pro3189Ser) c.9436C>T (p.Pro3146Ser) c.9427C>T (p.Pro3143Ser) c.8923C>T (p.Pro2975Ser) c.8854C>T (p.Pro2952Ser) c.3640C>T (p.Pro1214Ser) c.9490C>T (p.Pro3164Ser) c.9370C>T (p.Pro3124Ser) c.9301C>T (p.Pro3101Ser) c.7705C>T (p.Pro2569Ser) n.9841C>T | |
6 | g.51748051G>C | CA364420795 | PKHD1 | c.9565C>G (p.Pro3189Ala) c.9436C>G (p.Pro3146Ala) c.9427C>G (p.Pro3143Ala) c.8923C>G (p.Pro2975Ala) c.8854C>G (p.Pro2952Ala) c.3640C>G (p.Pro1214Ala) c.9490C>G (p.Pro3164Ala) c.9370C>G (p.Pro3124Ala) c.9301C>G (p.Pro3101Ala) c.7705C>G (p.Pro2569Ala) n.9841C>G | |
6 | g.51748051G>T | CA364420796 | PKHD1 | c.9565C>A (p.Pro3189Thr) c.9436C>A (p.Pro3146Thr) c.9427C>A (p.Pro3143Thr) c.8923C>A (p.Pro2975Thr) c.8854C>A (p.Pro2952Thr) c.3640C>A (p.Pro1214Thr) c.9490C>A (p.Pro3164Thr) c.9370C>A (p.Pro3124Thr) c.9301C>A (p.Pro3101Thr) c.7705C>A (p.Pro2569Thr) n.9841C>A | |
6 | g.51748052A>C | CA450613376 | PKHD1 | c.9564T>G (p.Ala3188=) c.9435T>G (p.Ala3145=) c.9426T>G (p.Ala3142=) c.8922T>G (p.Ala2974=) c.8853T>G (p.Ala2951=) c.3639T>G (p.Ala1213=) c.9489T>G (p.Ala3163=) c.9369T>G (p.Ala3123=) c.9300T>G (p.Ala3100=) c.7704T>G (p.Ala2568=) n.9840T>G | |
6 | g.51748052A>G | CA450613378 | PKHD1 | c.9564T>C (p.Ala3188=) c.9435T>C (p.Ala3145=) c.9426T>C (p.Ala3142=) c.8922T>C (p.Ala2974=) c.8853T>C (p.Ala2951=) c.3639T>C (p.Ala1213=) c.9489T>C (p.Ala3163=) c.9369T>C (p.Ala3123=) c.9300T>C (p.Ala3100=) c.7704T>C (p.Ala2568=) n.9840T>C | |
6 | g.51748052A>T | CA450613377 | PKHD1 | c.9564T>A (p.Ala3188=) c.9435T>A (p.Ala3145=) c.9426T>A (p.Ala3142=) c.8922T>A (p.Ala2974=) c.8853T>A (p.Ala2951=) c.3639T>A (p.Ala1213=) c.9489T>A (p.Ala3163=) c.9369T>A (p.Ala3123=) c.9300T>A (p.Ala3100=) c.7704T>A (p.Ala2568=) n.9840T>A | |
6 | g.51748053G>A | CA3851370 | PKHD1 | c.9563C>T (p.Ala3188Val) c.9434C>T (p.Ala3145Val) c.9425C>T (p.Ala3142Val) c.8921C>T (p.Ala2974Val) c.8852C>T (p.Ala2951Val) c.3638C>T (p.Ala1213Val) c.9488C>T (p.Ala3163Val) c.9368C>T (p.Ala3123Val) c.9299C>T (p.Ala3100Val) c.7703C>T (p.Ala2568Val) n.9839C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748053G>C | CA364420797 | PKHD1 | c.9563C>G (p.Ala3188Gly) c.9434C>G (p.Ala3145Gly) c.9425C>G (p.Ala3142Gly) c.8921C>G (p.Ala2974Gly) c.8852C>G (p.Ala2951Gly) c.3638C>G (p.Ala1213Gly) c.9488C>G (p.Ala3163Gly) c.9368C>G (p.Ala3123Gly) c.9299C>G (p.Ala3100Gly) c.7703C>G (p.Ala2568Gly) n.9839C>G | |
6 | g.51748053G= | CA1628502388 | PKHD1 | c.9563C= (p.Ala3188=) c.9434C= (p.Ala3145=) c.9425C= (p.Ala3142=) c.8921C= (p.Ala2974=) c.8852C= (p.Ala2951=) c.3638C= (p.Ala1213=) c.9488C= (p.Ala3163=) c.9368C= (p.Ala3123=) c.9299C= (p.Ala3100=) c.7703C= (p.Ala2568=) n.9839C= | |
6 | g.51748053G>T | CA364420798 | PKHD1 | c.9563C>A (p.Ala3188Asp) c.9434C>A (p.Ala3145Asp) c.9425C>A (p.Ala3142Asp) c.8921C>A (p.Ala2974Asp) c.8852C>A (p.Ala2951Asp) c.3638C>A (p.Ala1213Asp) c.9488C>A (p.Ala3163Asp) c.9368C>A (p.Ala3123Asp) c.9299C>A (p.Ala3100Asp) c.7703C>A (p.Ala2568Asp) n.9839C>A | |
6 | g.51748054C>A | CA138896039 | PKHD1 | c.9562G>T (p.Ala3188Ser) c.9433G>T (p.Ala3145Ser) c.9424G>T (p.Ala3142Ser) c.8920G>T (p.Ala2974Ser) c.8851G>T (p.Ala2951Ser) c.3637G>T (p.Ala1213Ser) c.9487G>T (p.Ala3163Ser) c.9367G>T (p.Ala3123Ser) c.9298G>T (p.Ala3100Ser) c.7702G>T (p.Ala2568Ser) n.9838G>T | dbSNP COSMIC COSMIC |
6 | g.51748054C= | CA1628502391 | PKHD1 | c.9562G= (p.Ala3188=) c.9433G= (p.Ala3145=) c.9424G= (p.Ala3142=) c.8920G= (p.Ala2974=) c.8851G= (p.Ala2951=) c.3637G= (p.Ala1213=) c.9487G= (p.Ala3163=) c.9367G= (p.Ala3123=) c.9298G= (p.Ala3100=) c.7702G= (p.Ala2568=) n.9838G= | |
6 | g.51748054C>G | CA3851371 | PKHD1 | c.9562G>C (p.Ala3188Pro) c.9433G>C (p.Ala3145Pro) c.9424G>C (p.Ala3142Pro) c.8920G>C (p.Ala2974Pro) c.8851G>C (p.Ala2951Pro) c.3637G>C (p.Ala1213Pro) c.9487G>C (p.Ala3163Pro) c.9367G>C (p.Ala3123Pro) c.9298G>C (p.Ala3100Pro) c.7702G>C (p.Ala2568Pro) n.9838G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748054C>T | CA3851372 | PKHD1 | c.9562G>A (p.Ala3188Thr) c.9433G>A (p.Ala3145Thr) c.9424G>A (p.Ala3142Thr) c.8920G>A (p.Ala2974Thr) c.8851G>A (p.Ala2951Thr) c.3637G>A (p.Ala1213Thr) c.9487G>A (p.Ala3163Thr) c.9367G>A (p.Ala3123Thr) c.9298G>A (p.Ala3100Thr) c.7702G>A (p.Ala2568Thr) n.9838G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748055A= | CA1628502394 | PKHD1 | c.9561T= (p.Ser3187=) c.9432T= (p.Ser3144=) c.9423T= (p.Ser3141=) c.8919T= (p.Ser2973=) c.8850T= (p.Ser2950=) c.3636T= (p.Ser1212=) c.9486T= (p.Ser3162=) c.9366T= (p.Ser3122=) c.9297T= (p.Ser3099=) c.7701T= (p.Ser2567=) n.9837T= | |
6 | g.51748055A>C | CA450613380 | PKHD1 | c.9561T>G (p.Ser3187=) c.9432T>G (p.Ser3144=) c.9423T>G (p.Ser3141=) c.8919T>G (p.Ser2973=) c.8850T>G (p.Ser2950=) c.3636T>G (p.Ser1212=) c.9486T>G (p.Ser3162=) c.9366T>G (p.Ser3122=) c.9297T>G (p.Ser3099=) c.7701T>G (p.Ser2567=) n.9837T>G | |
6 | g.51748055A>G | CA450613381 | PKHD1 | c.9561T>C (p.Ser3187=) c.9432T>C (p.Ser3144=) c.9423T>C (p.Ser3141=) c.8919T>C (p.Ser2973=) c.8850T>C (p.Ser2950=) c.3636T>C (p.Ser1212=) c.9486T>C (p.Ser3162=) c.9366T>C (p.Ser3122=) c.9297T>C (p.Ser3099=) c.7701T>C (p.Ser2567=) n.9837T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748055A>T | CA450613384 | PKHD1 | c.9561T>A (p.Ser3187=) c.9432T>A (p.Ser3144=) c.9423T>A (p.Ser3141=) c.8919T>A (p.Ser2973=) c.8850T>A (p.Ser2950=) c.3636T>A (p.Ser1212=) c.9486T>A (p.Ser3162=) c.9366T>A (p.Ser3122=) c.9297T>A (p.Ser3099=) c.7701T>A (p.Ser2567=) n.9837T>A | |
6 | g.51748055_51748056delinsAG | CA1628502396 | PKHD1 | c.9560_9561delinsCT (p.Ser3187=) c.9431_9432delinsCT (p.Ser3144=) c.9422_9423delinsCT (p.Ser3141=) c.8918_8919delinsCT (p.Ser2973=) c.8849_8850delinsCT (p.Ser2950=) c.3635_3636delinsCT (p.Ser1212=) c.9485_9486delinsCT (p.Ser3162=) c.9365_9366delinsCT (p.Ser3122=) c.9296_9297delinsCT (p.Ser3099=) c.7700_7701delinsCT (p.Ser2567=) n.9836_9837delinsCT | |
6 | g.51748056del | CA891862705 | PKHD1 | c.9560del (p.Ser3187LeufsTer?) c.9431del (p.Ser3144LeufsTer?) c.9422del (p.Ser3141LeufsTer?) c.8918del (p.Ser2973LeufsTer?) c.8849del (p.Ser2950LeufsTer?) c.3635del (p.Ser1212LeufsTer?) c.9485del (p.Ser3162LeufsTer?) c.9365del (p.Ser3122LeufsTer?) c.9296del (p.Ser3099LeufsTer?) c.7700del (p.Ser2567LeufsTer?) n.9836del | ClinVar dbSNP |
6 | g.51748056G>A | CA364420799 | PKHD1 | c.9560C>T (p.Ser3187Phe) c.9431C>T (p.Ser3144Phe) c.9422C>T (p.Ser3141Phe) c.8918C>T (p.Ser2973Phe) c.8849C>T (p.Ser2950Phe) c.3635C>T (p.Ser1212Phe) c.9485C>T (p.Ser3162Phe) c.9365C>T (p.Ser3122Phe) c.9296C>T (p.Ser3099Phe) c.7700C>T (p.Ser2567Phe) n.9836C>T | |
6 | g.51748056G>C | CA364420800 | PKHD1 | c.9560C>G (p.Ser3187Cys) c.9431C>G (p.Ser3144Cys) c.9422C>G (p.Ser3141Cys) c.8918C>G (p.Ser2973Cys) c.8849C>G (p.Ser2950Cys) c.3635C>G (p.Ser1212Cys) c.9485C>G (p.Ser3162Cys) c.9365C>G (p.Ser3122Cys) c.9296C>G (p.Ser3099Cys) c.7700C>G (p.Ser2567Cys) n.9836C>G | gnomAD v4 |
6 | g.51748056G= | CA1628502407 | PKHD1 | c.9560C= (p.Ser3187=) c.9431C= (p.Ser3144=) c.9422C= (p.Ser3141=) c.8918C= (p.Ser2973=) c.8849C= (p.Ser2950=) c.3635C= (p.Ser1212=) c.9485C= (p.Ser3162=) c.9365C= (p.Ser3122=) c.9296C= (p.Ser3099=) c.7700C= (p.Ser2567=) n.9836C= | |
6 | g.51748056G>T | CA138896065 | PKHD1 | c.9560C>A (p.Ser3187Tyr) c.9431C>A (p.Ser3144Tyr) c.9422C>A (p.Ser3141Tyr) c.8918C>A (p.Ser2973Tyr) c.8849C>A (p.Ser2950Tyr) c.3635C>A (p.Ser1212Tyr) c.9485C>A (p.Ser3162Tyr) c.9365C>A (p.Ser3122Tyr) c.9296C>A (p.Ser3099Tyr) c.7700C>A (p.Ser2567Tyr) n.9836C>A | dbSNP gnomAD v3 COSMIC COSMIC |
6 | g.51748056_51748057delinsGA | CA1628502406 | PKHD1 | c.9559_9560delinsTC (p.Ser3187=) c.9430_9431delinsTC (p.Ser3144=) c.9421_9422delinsTC (p.Ser3141=) c.8917_8918delinsTC (p.Ser2973=) c.8848_8849delinsTC (p.Ser2950=) c.3634_3635delinsTC (p.Ser1212=) c.9484_9485delinsTC (p.Ser3162=) c.9364_9365delinsTC (p.Ser3122=) c.9295_9296delinsTC (p.Ser3099=) c.7699_7700delinsTC (p.Ser2567=) n.9835_9836delinsTC | |
6 | g.51748057A>C | CA364420801 | PKHD1 | c.9559T>G (p.Ser3187Ala) c.9430T>G (p.Ser3144Ala) c.9421T>G (p.Ser3141Ala) c.8917T>G (p.Ser2973Ala) c.8848T>G (p.Ser2950Ala) c.3634T>G (p.Ser1212Ala) c.9484T>G (p.Ser3162Ala) c.9364T>G (p.Ser3122Ala) c.9295T>G (p.Ser3099Ala) c.7699T>G (p.Ser2567Ala) n.9835T>G | |
6 | g.51748057A>G | CA364420802 | PKHD1 | c.9559T>C (p.Ser3187Pro) c.9430T>C (p.Ser3144Pro) c.9421T>C (p.Ser3141Pro) c.8917T>C (p.Ser2973Pro) c.8848T>C (p.Ser2950Pro) c.3634T>C (p.Ser1212Pro) c.9484T>C (p.Ser3162Pro) c.9364T>C (p.Ser3122Pro) c.9295T>C (p.Ser3099Pro) c.7699T>C (p.Ser2567Pro) n.9835T>C | |
6 | g.51748057A>T | CA364420803 | PKHD1 | c.9559T>A (p.Ser3187Thr) c.9430T>A (p.Ser3144Thr) c.9421T>A (p.Ser3141Thr) c.8917T>A (p.Ser2973Thr) c.8848T>A (p.Ser2950Thr) c.3634T>A (p.Ser1212Thr) c.9484T>A (p.Ser3162Thr) c.9364T>A (p.Ser3122Thr) c.9295T>A (p.Ser3099Thr) c.7699T>A (p.Ser2567Thr) n.9835T>A | |
6 | g.51748060del | CA276016 | PKHD1 | c.9559del (p.Ser3187LeufsTer?) c.9430del (p.Ser3144LeufsTer?) c.9421del (p.Ser3141LeufsTer?) c.8917del (p.Ser2973LeufsTer?) c.8848del (p.Ser2950LeufsTer?) c.3634del (p.Ser1212LeufsTer?) c.9484del (p.Ser3162LeufsTer?) c.9364del (p.Ser3122LeufsTer?) c.9295del (p.Ser3099LeufsTer?) c.7699del (p.Ser2567LeufsTer?) n.9835del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748058A>C | CA364420804 | PKHD1 | c.9558T>G (p.Phe3186Leu) c.9429T>G (p.Phe3143Leu) c.9420T>G (p.Phe3140Leu) c.8916T>G (p.Phe2972Leu) c.8847T>G (p.Phe2949Leu) c.3633T>G (p.Phe1211Leu) c.9483T>G (p.Phe3161Leu) c.9363T>G (p.Phe3121Leu) c.9294T>G (p.Phe3098Leu) c.7698T>G (p.Phe2566Leu) n.9834T>G | |
6 | g.51748058A>G | CA450613389 | PKHD1 | c.9558T>C (p.Phe3186=) c.9429T>C (p.Phe3143=) c.9420T>C (p.Phe3140=) c.8916T>C (p.Phe2972=) c.8847T>C (p.Phe2949=) c.3633T>C (p.Phe1211=) c.9483T>C (p.Phe3161=) c.9363T>C (p.Phe3121=) c.9294T>C (p.Phe3098=) c.7698T>C (p.Phe2566=) n.9834T>C | |
6 | g.51748058A>T | CA364420805 | PKHD1 | c.9558T>A (p.Phe3186Leu) c.9429T>A (p.Phe3143Leu) c.9420T>A (p.Phe3140Leu) c.8916T>A (p.Phe2972Leu) c.8847T>A (p.Phe2949Leu) c.3633T>A (p.Phe1211Leu) c.9483T>A (p.Phe3161Leu) c.9363T>A (p.Phe3121Leu) c.9294T>A (p.Phe3098Leu) c.7698T>A (p.Phe2566Leu) n.9834T>A | |
6 | g.51748059A>C | CA364420808 | PKHD1 | c.9557T>G (p.Phe3186Cys) c.9428T>G (p.Phe3143Cys) c.9419T>G (p.Phe3140Cys) c.8915T>G (p.Phe2972Cys) c.8846T>G (p.Phe2949Cys) c.3632T>G (p.Phe1211Cys) c.9482T>G (p.Phe3161Cys) c.9362T>G (p.Phe3121Cys) c.9293T>G (p.Phe3098Cys) c.7697T>G (p.Phe2566Cys) n.9833T>G | |
6 | g.51748059A>G | CA364420807 | PKHD1 | c.9557T>C (p.Phe3186Ser) c.9428T>C (p.Phe3143Ser) c.9419T>C (p.Phe3140Ser) c.8915T>C (p.Phe2972Ser) c.8846T>C (p.Phe2949Ser) c.3632T>C (p.Phe1211Ser) c.9482T>C (p.Phe3161Ser) c.9362T>C (p.Phe3121Ser) c.9293T>C (p.Phe3098Ser) c.7697T>C (p.Phe2566Ser) n.9833T>C | |
6 | g.51748059A>T | CA364420806 | PKHD1 | c.9557T>A (p.Phe3186Tyr) c.9428T>A (p.Phe3143Tyr) c.9419T>A (p.Phe3140Tyr) c.8915T>A (p.Phe2972Tyr) c.8846T>A (p.Phe2949Tyr) c.3632T>A (p.Phe1211Tyr) c.9482T>A (p.Phe3161Tyr) c.9362T>A (p.Phe3121Tyr) c.9293T>A (p.Phe3098Tyr) c.7697T>A (p.Phe2566Tyr) n.9833T>A | |
6 | g.51748060A>C | CA364420809 | PKHD1 | c.9556T>G (p.Phe3186Val) c.9427T>G (p.Phe3143Val) c.9418T>G (p.Phe3140Val) c.8914T>G (p.Phe2972Val) c.8845T>G (p.Phe2949Val) c.3631T>G (p.Phe1211Val) c.9481T>G (p.Phe3161Val) c.9361T>G (p.Phe3121Val) c.9292T>G (p.Phe3098Val) c.7696T>G (p.Phe2566Val) n.9832T>G | |
6 | g.51748060A>G | CA364420811 | PKHD1 | c.9556T>C (p.Phe3186Leu) c.9427T>C (p.Phe3143Leu) c.9418T>C (p.Phe3140Leu) c.8914T>C (p.Phe2972Leu) c.8845T>C (p.Phe2949Leu) c.3631T>C (p.Phe1211Leu) c.9481T>C (p.Phe3161Leu) c.9361T>C (p.Phe3121Leu) c.9292T>C (p.Phe3098Leu) c.7696T>C (p.Phe2566Leu) n.9832T>C | |
6 | g.51748060A>T | CA364420810 | PKHD1 | c.9556T>A (p.Phe3186Ile) c.9427T>A (p.Phe3143Ile) c.9418T>A (p.Phe3140Ile) c.8914T>A (p.Phe2972Ile) c.8845T>A (p.Phe2949Ile) c.3631T>A (p.Phe1211Ile) c.9481T>A (p.Phe3161Ile) c.9361T>A (p.Phe3121Ile) c.9292T>A (p.Phe3098Ile) c.7696T>A (p.Phe2566Ile) n.9832T>A | |
6 | g.51748061T>A | CA450613393 | PKHD1 | c.9555A>T (p.Val3185=) c.9426A>T (p.Val3142=) c.9417A>T (p.Val3139=) c.8913A>T (p.Val2971=) c.8844A>T (p.Val2948=) c.3630A>T (p.Val1210=) c.9480A>T (p.Val3160=) c.9360A>T (p.Val3120=) c.9291A>T (p.Val3097=) c.7695A>T (p.Val2565=) n.9831A>T | |
6 | g.51748061T>C | CA450613395 | PKHD1 | c.9555A>G (p.Val3185=) c.9426A>G (p.Val3142=) c.9417A>G (p.Val3139=) c.8913A>G (p.Val2971=) c.8844A>G (p.Val2948=) c.3630A>G (p.Val1210=) c.9480A>G (p.Val3160=) c.9360A>G (p.Val3120=) c.9291A>G (p.Val3097=) c.7695A>G (p.Val2565=) n.9831A>G | |
6 | g.51748061T>G | CA450613396 | PKHD1 | c.9555A>C (p.Val3185=) c.9426A>C (p.Val3142=) c.9417A>C (p.Val3139=) c.8913A>C (p.Val2971=) c.8844A>C (p.Val2948=) c.3630A>C (p.Val1210=) c.9480A>C (p.Val3160=) c.9360A>C (p.Val3120=) c.9291A>C (p.Val3097=) c.7695A>C (p.Val2565=) n.9831A>C | |
6 | g.51748062A>C | CA364420812 | PKHD1 | c.9554T>G (p.Val3185Gly) c.9425T>G (p.Val3142Gly) c.9416T>G (p.Val3139Gly) c.8912T>G (p.Val2971Gly) c.8843T>G (p.Val2948Gly) c.3629T>G (p.Val1210Gly) c.9479T>G (p.Val3160Gly) c.9359T>G (p.Val3120Gly) c.9290T>G (p.Val3097Gly) c.7694T>G (p.Val2565Gly) n.9830T>G | |
6 | g.51748062A>G | CA364420813 | PKHD1 | c.9554T>C (p.Val3185Ala) c.9425T>C (p.Val3142Ala) c.9416T>C (p.Val3139Ala) c.8912T>C (p.Val2971Ala) c.8843T>C (p.Val2948Ala) c.3629T>C (p.Val1210Ala) c.9479T>C (p.Val3160Ala) c.9359T>C (p.Val3120Ala) c.9290T>C (p.Val3097Ala) c.7694T>C (p.Val2565Ala) n.9830T>C | gnomAD v4 |
6 | g.51748062A>T | CA364420814 | PKHD1 | c.9554T>A (p.Val3185Glu) c.9425T>A (p.Val3142Glu) c.9416T>A (p.Val3139Glu) c.8912T>A (p.Val2971Glu) c.8843T>A (p.Val2948Glu) c.3629T>A (p.Val1210Glu) c.9479T>A (p.Val3160Glu) c.9359T>A (p.Val3120Glu) c.9290T>A (p.Val3097Glu) c.7694T>A (p.Val2565Glu) n.9830T>A | |
6 | g.51748063C>A | CA364420815 | PKHD1 | c.9553G>T (p.Val3185Leu) c.9424G>T (p.Val3142Leu) c.9415G>T (p.Val3139Leu) c.8911G>T (p.Val2971Leu) c.8842G>T (p.Val2948Leu) c.3628G>T (p.Val1210Leu) c.9478G>T (p.Val3160Leu) c.9358G>T (p.Val3120Leu) c.9289G>T (p.Val3097Leu) c.7693G>T (p.Val2565Leu) n.9829G>T | |
6 | g.51748063C= | CA1628502420 | PKHD1 | c.9553G= (p.Val3185=) c.9424G= (p.Val3142=) c.9415G= (p.Val3139=) c.8911G= (p.Val2971=) c.8842G= (p.Val2948=) c.3628G= (p.Val1210=) c.9478G= (p.Val3160=) c.9358G= (p.Val3120=) c.9289G= (p.Val3097=) c.7693G= (p.Val2565=) n.9829G= | |
6 | g.51748063C>G | CA364420816 | PKHD1 | c.9553G>C (p.Val3185Leu) c.9424G>C (p.Val3142Leu) c.9415G>C (p.Val3139Leu) c.8911G>C (p.Val2971Leu) c.8842G>C (p.Val2948Leu) c.3628G>C (p.Val1210Leu) c.9478G>C (p.Val3160Leu) c.9358G>C (p.Val3120Leu) c.9289G>C (p.Val3097Leu) c.7693G>C (p.Val2565Leu) n.9829G>C | |
6 | g.51748063C>T | CA3851373 | PKHD1 | c.9553G>A (p.Val3185Ile) c.9424G>A (p.Val3142Ile) c.9415G>A (p.Val3139Ile) c.8911G>A (p.Val2971Ile) c.8842G>A (p.Val2948Ile) c.3628G>A (p.Val1210Ile) c.9478G>A (p.Val3160Ile) c.9358G>A (p.Val3120Ile) c.9289G>A (p.Val3097Ile) c.7693G>A (p.Val2565Ile) n.9829G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748064A= | CA1628502429 | PKHD1 | c.9552T= (p.Tyr3184=) c.9423T= (p.Tyr3141=) c.9414T= (p.Tyr3138=) c.8910T= (p.Tyr2970=) c.8841T= (p.Tyr2947=) c.3627T= (p.Tyr1209=) c.9477T= (p.Tyr3159=) c.9357T= (p.Tyr3119=) c.9288T= (p.Tyr3096=) c.7692T= (p.Tyr2564=) n.9828T= | |
6 | g.51748064A>C | CA364420817 | PKHD1 | c.9552T>G (p.Tyr3184Ter) c.9423T>G (p.Tyr3141Ter) c.9414T>G (p.Tyr3138Ter) c.8910T>G (p.Tyr2970Ter) c.8841T>G (p.Tyr2947Ter) c.3627T>G (p.Tyr1209Ter) c.9477T>G (p.Tyr3159Ter) c.9357T>G (p.Tyr3119Ter) c.9288T>G (p.Tyr3096Ter) c.7692T>G (p.Tyr2564Ter) n.9828T>G | ClinVar |
6 | g.51748064A>G | CA450613400 | PKHD1 | c.9552T>C (p.Tyr3184=) c.9423T>C (p.Tyr3141=) c.9414T>C (p.Tyr3138=) c.8910T>C (p.Tyr2970=) c.8841T>C (p.Tyr2947=) c.3627T>C (p.Tyr1209=) c.9477T>C (p.Tyr3159=) c.9357T>C (p.Tyr3119=) c.9288T>C (p.Tyr3096=) c.7692T>C (p.Tyr2564=) n.9828T>C | |
6 | g.51748064A>T | CA364420818 | PKHD1 | c.9552T>A (p.Tyr3184Ter) c.9423T>A (p.Tyr3141Ter) c.9414T>A (p.Tyr3138Ter) c.8910T>A (p.Tyr2970Ter) c.8841T>A (p.Tyr2947Ter) c.3627T>A (p.Tyr1209Ter) c.9477T>A (p.Tyr3159Ter) c.9357T>A (p.Tyr3119Ter) c.9288T>A (p.Tyr3096Ter) c.7692T>A (p.Tyr2564Ter) n.9828T>A | |
6 | g.51748065T>A | CA364420819 | PKHD1 | c.9551A>T (p.Tyr3184Phe) c.9422A>T (p.Tyr3141Phe) c.9413A>T (p.Tyr3138Phe) c.8909A>T (p.Tyr2970Phe) c.8840A>T (p.Tyr2947Phe) c.3626A>T (p.Tyr1209Phe) c.9476A>T (p.Tyr3159Phe) c.9356A>T (p.Tyr3119Phe) c.9287A>T (p.Tyr3096Phe) c.7691A>T (p.Tyr2564Phe) n.9827A>T | gnomAD v4 |
6 | g.51748065T>C | CA364420820 | PKHD1 | c.9551A>G (p.Tyr3184Cys) c.9422A>G (p.Tyr3141Cys) c.9413A>G (p.Tyr3138Cys) c.8909A>G (p.Tyr2970Cys) c.8840A>G (p.Tyr2947Cys) c.3626A>G (p.Tyr1209Cys) c.9476A>G (p.Tyr3159Cys) c.9356A>G (p.Tyr3119Cys) c.9287A>G (p.Tyr3096Cys) c.7691A>G (p.Tyr2564Cys) n.9827A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748065T>G | CA364420821 | PKHD1 | c.9551A>C (p.Tyr3184Ser) c.9422A>C (p.Tyr3141Ser) c.9413A>C (p.Tyr3138Ser) c.8909A>C (p.Tyr2970Ser) c.8840A>C (p.Tyr2947Ser) c.3626A>C (p.Tyr1209Ser) c.9476A>C (p.Tyr3159Ser) c.9356A>C (p.Tyr3119Ser) c.9287A>C (p.Tyr3096Ser) c.7691A>C (p.Tyr2564Ser) n.9827A>C | |
6 | g.51748065T= | CA1628502431 | PKHD1 | c.9551A= (p.Tyr3184=) c.9422A= (p.Tyr3141=) c.9413A= (p.Tyr3138=) c.8909A= (p.Tyr2970=) c.8840A= (p.Tyr2947=) c.3626A= (p.Tyr1209=) c.9476A= (p.Tyr3159=) c.9356A= (p.Tyr3119=) c.9287A= (p.Tyr3096=) c.7691A= (p.Tyr2564=) n.9827A= | |
6 | g.51748065_51748067dup | CA1628502430 | PKHD1 | c.9549_9551dup (p.Tyr3184Ter) c.9420_9422dup (p.Tyr3141Ter) c.9411_9413dup (p.Tyr3138Ter) c.8907_8909dup (p.Tyr2970Ter) c.8838_8840dup (p.Tyr2947Ter) c.3624_3626dup (p.Tyr1209Ter) c.9474_9476dup (p.Tyr3159Ter) c.9354_9356dup (p.Tyr3119Ter) c.9285_9287dup (p.Tyr3096Ter) c.7689_7691dup (p.Tyr2564Ter) n.9825_9827dup | dbSNP |
6 | g.51748066A>C | CA364420824 | PKHD1 | c.9550T>G (p.Tyr3184Asp) c.9421T>G (p.Tyr3141Asp) c.9412T>G (p.Tyr3138Asp) c.8908T>G (p.Tyr2970Asp) c.8839T>G (p.Tyr2947Asp) c.3625T>G (p.Tyr1209Asp) c.9475T>G (p.Tyr3159Asp) c.9355T>G (p.Tyr3119Asp) c.9286T>G (p.Tyr3096Asp) c.7690T>G (p.Tyr2564Asp) n.9826T>G | |
6 | g.51748066A>G | CA364420822 | PKHD1 | c.9550T>C (p.Tyr3184His) c.9421T>C (p.Tyr3141His) c.9412T>C (p.Tyr3138His) c.8908T>C (p.Tyr2970His) c.8839T>C (p.Tyr2947His) c.3625T>C (p.Tyr1209His) c.9475T>C (p.Tyr3159His) c.9355T>C (p.Tyr3119His) c.9286T>C (p.Tyr3096His) c.7690T>C (p.Tyr2564His) n.9826T>C | |
6 | g.51748066A>T | CA364420823 | PKHD1 | c.9550T>A (p.Tyr3184Asn) c.9421T>A (p.Tyr3141Asn) c.9412T>A (p.Tyr3138Asn) c.8908T>A (p.Tyr2970Asn) c.8839T>A (p.Tyr2947Asn) c.3625T>A (p.Tyr1209Asn) c.9475T>A (p.Tyr3159Asn) c.9355T>A (p.Tyr3119Asn) c.9286T>A (p.Tyr3096Asn) c.7690T>A (p.Tyr2564Asn) n.9826T>A | |
6 | g.51748067C>A | CA450613407 | PKHD1 | c.9549G>T (p.Val3183=) c.9420G>T (p.Val3140=) c.9411G>T (p.Val3137=) c.8907G>T (p.Val2969=) c.8838G>T (p.Val2946=) c.3624G>T (p.Val1208=) c.9474G>T (p.Val3158=) c.9354G>T (p.Val3118=) c.9285G>T (p.Val3095=) c.7689G>T (p.Val2563=) n.9825G>T | |
6 | g.51748067C= | CA1628502436 | PKHD1 | c.9549G= (p.Val3183=) c.9420G= (p.Val3140=) c.9411G= (p.Val3137=) c.8907G= (p.Val2969=) c.8838G= (p.Val2946=) c.3624G= (p.Val1208=) c.9474G= (p.Val3158=) c.9354G= (p.Val3118=) c.9285G= (p.Val3095=) c.7689G= (p.Val2563=) n.9825G= | |
6 | g.51748067C>G | CA450613409 | PKHD1 | c.9549G>C (p.Val3183=) c.9420G>C (p.Val3140=) c.9411G>C (p.Val3137=) c.8907G>C (p.Val2969=) c.8838G>C (p.Val2946=) c.3624G>C (p.Val1208=) c.9474G>C (p.Val3158=) c.9354G>C (p.Val3118=) c.9285G>C (p.Val3095=) c.7689G>C (p.Val2563=) n.9825G>C | |
6 | g.51748067C>T | CA3851374 | PKHD1 | c.9549G>A (p.Val3183=) c.9420G>A (p.Val3140=) c.9411G>A (p.Val3137=) c.8907G>A (p.Val2969=) c.8838G>A (p.Val2946=) c.3624G>A (p.Val1208=) c.9474G>A (p.Val3158=) c.9354G>A (p.Val3118=) c.9285G>A (p.Val3095=) c.7689G>A (p.Val2563=) n.9825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748068A= | CA1628502438 | PKHD1 | c.9548T= (p.Val3183=) c.9419T= (p.Val3140=) c.9410T= (p.Val3137=) c.8906T= (p.Val2969=) c.8837T= (p.Val2946=) c.3623T= (p.Val1208=) c.9473T= (p.Val3158=) c.9353T= (p.Val3118=) c.9284T= (p.Val3095=) c.7688T= (p.Val2563=) n.9824T= | |
6 | g.51748068A>C | CA364420825 | PKHD1 | c.9548T>G (p.Val3183Gly) c.9419T>G (p.Val3140Gly) c.9410T>G (p.Val3137Gly) c.8906T>G (p.Val2969Gly) c.8837T>G (p.Val2946Gly) c.3623T>G (p.Val1208Gly) c.9473T>G (p.Val3158Gly) c.9353T>G (p.Val3118Gly) c.9284T>G (p.Val3095Gly) c.7688T>G (p.Val2563Gly) n.9824T>G | |
6 | g.51748068A>G | CA364420826 | PKHD1 | c.9548T>C (p.Val3183Ala) c.9419T>C (p.Val3140Ala) c.9410T>C (p.Val3137Ala) c.8906T>C (p.Val2969Ala) c.8837T>C (p.Val2946Ala) c.3623T>C (p.Val1208Ala) c.9473T>C (p.Val3158Ala) c.9353T>C (p.Val3118Ala) c.9284T>C (p.Val3095Ala) c.7688T>C (p.Val2563Ala) n.9824T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748068A>T | CA364420827 | PKHD1 | c.9548T>A (p.Val3183Glu) c.9419T>A (p.Val3140Glu) c.9410T>A (p.Val3137Glu) c.8906T>A (p.Val2969Glu) c.8837T>A (p.Val2946Glu) c.3623T>A (p.Val1208Glu) c.9473T>A (p.Val3158Glu) c.9353T>A (p.Val3118Glu) c.9284T>A (p.Val3095Glu) c.7688T>A (p.Val2563Glu) n.9824T>A | |
6 | g.51748069C>A | CA364420828 | PKHD1 | c.9547G>T (p.Val3183Leu) c.9418G>T (p.Val3140Leu) c.9409G>T (p.Val3137Leu) c.8905G>T (p.Val2969Leu) c.8836G>T (p.Val2946Leu) c.3622G>T (p.Val1208Leu) c.9472G>T (p.Val3158Leu) c.9352G>T (p.Val3118Leu) c.9283G>T (p.Val3095Leu) c.7687G>T (p.Val2563Leu) n.9823G>T | |
6 | g.51748069C>G | CA364420829 | PKHD1 | c.9547G>C (p.Val3183Leu) c.9418G>C (p.Val3140Leu) c.9409G>C (p.Val3137Leu) c.8905G>C (p.Val2969Leu) c.8836G>C (p.Val2946Leu) c.3622G>C (p.Val1208Leu) c.9472G>C (p.Val3158Leu) c.9352G>C (p.Val3118Leu) c.9283G>C (p.Val3095Leu) c.7687G>C (p.Val2563Leu) n.9823G>C | |
6 | g.51748069C>T | CA364420830 | PKHD1 | c.9547G>A (p.Val3183Met) c.9418G>A (p.Val3140Met) c.9409G>A (p.Val3137Met) c.8905G>A (p.Val2969Met) c.8836G>A (p.Val2946Met) c.3622G>A (p.Val1208Met) c.9472G>A (p.Val3158Met) c.9352G>A (p.Val3118Met) c.9283G>A (p.Val3095Met) c.7687G>A (p.Val2563Met) n.9823G>A | |
6 | g.51748070T>A | CA450613413 | PKHD1 | c.9546A>T (p.Val3182=) c.9417A>T (p.Val3139=) c.9408A>T (p.Val3136=) c.8904A>T (p.Val2968=) c.8835A>T (p.Val2945=) c.3621A>T (p.Val1207=) c.9471A>T (p.Val3157=) c.9351A>T (p.Val3117=) c.9282A>T (p.Val3094=) c.7686A>T (p.Val2562=) n.9822A>T | |
6 | g.51748070T>C | CA3851375 | PKHD1 | c.9546A>G (p.Val3182=) c.9417A>G (p.Val3139=) c.9408A>G (p.Val3136=) c.8904A>G (p.Val2968=) c.8835A>G (p.Val2945=) c.3621A>G (p.Val1207=) c.9471A>G (p.Val3157=) c.9351A>G (p.Val3117=) c.9282A>G (p.Val3094=) c.7686A>G (p.Val2562=) n.9822A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748070T>G | CA450613414 | PKHD1 | c.9546A>C (p.Val3182=) c.9417A>C (p.Val3139=) c.9408A>C (p.Val3136=) c.8904A>C (p.Val2968=) c.8835A>C (p.Val2945=) c.3621A>C (p.Val1207=) c.9471A>C (p.Val3157=) c.9351A>C (p.Val3117=) c.9282A>C (p.Val3094=) c.7686A>C (p.Val2562=) n.9822A>C | |
6 | g.51748070T= | CA1628502444 | PKHD1 | c.9546A= (p.Val3182=) c.9417A= (p.Val3139=) c.9408A= (p.Val3136=) c.8904A= (p.Val2968=) c.8835A= (p.Val2945=) c.3621A= (p.Val1207=) c.9471A= (p.Val3157=) c.9351A= (p.Val3117=) c.9282A= (p.Val3094=) c.7686A= (p.Val2562=) n.9822A= | |
6 | g.51748071A>C | CA364420831 | PKHD1 | c.9545T>G (p.Val3182Gly) c.9416T>G (p.Val3139Gly) c.9407T>G (p.Val3136Gly) c.8903T>G (p.Val2968Gly) c.8834T>G (p.Val2945Gly) c.3620T>G (p.Val1207Gly) c.9470T>G (p.Val3157Gly) c.9350T>G (p.Val3117Gly) c.9281T>G (p.Val3094Gly) c.7685T>G (p.Val2562Gly) n.9821T>G | |
6 | g.51748071A>G | CA364420832 | PKHD1 | c.9545T>C (p.Val3182Ala) c.9416T>C (p.Val3139Ala) c.9407T>C (p.Val3136Ala) c.8903T>C (p.Val2968Ala) c.8834T>C (p.Val2945Ala) c.3620T>C (p.Val1207Ala) c.9470T>C (p.Val3157Ala) c.9350T>C (p.Val3117Ala) c.9281T>C (p.Val3094Ala) c.7685T>C (p.Val2562Ala) n.9821T>C | |
6 | g.51748071A>T | CA364420833 | PKHD1 | c.9545T>A (p.Val3182Glu) c.9416T>A (p.Val3139Glu) c.9407T>A (p.Val3136Glu) c.8903T>A (p.Val2968Glu) c.8834T>A (p.Val2945Glu) c.3620T>A (p.Val1207Glu) c.9470T>A (p.Val3157Glu) c.9350T>A (p.Val3117Glu) c.9281T>A (p.Val3094Glu) c.7685T>A (p.Val2562Glu) n.9821T>A | |
6 | g.51748072C>A | CA364420835 | PKHD1 | c.9544G>T (p.Val3182Leu) c.9415G>T (p.Val3139Leu) c.9406G>T (p.Val3136Leu) c.8902G>T (p.Val2968Leu) c.8833G>T (p.Val2945Leu) c.3619G>T (p.Val1207Leu) c.9469G>T (p.Val3157Leu) c.9349G>T (p.Val3117Leu) c.9280G>T (p.Val3094Leu) c.7684G>T (p.Val2562Leu) n.9820G>T | |
6 | g.51748072C= | CA1628502455 | PKHD1 | c.9544G= (p.Val3182=) c.9415G= (p.Val3139=) c.9406G= (p.Val3136=) c.8902G= (p.Val2968=) c.8833G= (p.Val2945=) c.3619G= (p.Val1207=) c.9469G= (p.Val3157=) c.9349G= (p.Val3117=) c.9280G= (p.Val3094=) c.7684G= (p.Val2562=) n.9820G= | |
6 | g.51748072C>G | CA364420834 | PKHD1 | c.9544G>C (p.Val3182Leu) c.9415G>C (p.Val3139Leu) c.9406G>C (p.Val3136Leu) c.8902G>C (p.Val2968Leu) c.8833G>C (p.Val2945Leu) c.3619G>C (p.Val1207Leu) c.9469G>C (p.Val3157Leu) c.9349G>C (p.Val3117Leu) c.9280G>C (p.Val3094Leu) c.7684G>C (p.Val2562Leu) n.9820G>C | |
6 | g.51748072C>T | CA3851376 | PKHD1 | c.9544G>A (p.Val3182Ile) c.9415G>A (p.Val3139Ile) c.9406G>A (p.Val3136Ile) c.8902G>A (p.Val2968Ile) c.8833G>A (p.Val2945Ile) c.3619G>A (p.Val1207Ile) c.9469G>A (p.Val3157Ile) c.9349G>A (p.Val3117Ile) c.9280G>A (p.Val3094Ile) c.7684G>A (p.Val2562Ile) n.9820G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748073T>A | CA450613416 | PKHD1 | c.9543A>T (p.Ala3181=) c.9414A>T (p.Ala3138=) c.9405A>T (p.Ala3135=) c.8901A>T (p.Ala2967=) c.8832A>T (p.Ala2944=) c.3618A>T (p.Ala1206=) c.9468A>T (p.Ala3156=) c.9348A>T (p.Ala3116=) c.9279A>T (p.Ala3093=) c.7683A>T (p.Ala2561=) n.9819A>T | |
6 | g.51748073T>C | CA450613417 | PKHD1 | c.9543A>G (p.Ala3181=) c.9414A>G (p.Ala3138=) c.9405A>G (p.Ala3135=) c.8901A>G (p.Ala2967=) c.8832A>G (p.Ala2944=) c.3618A>G (p.Ala1206=) c.9468A>G (p.Ala3156=) c.9348A>G (p.Ala3116=) c.9279A>G (p.Ala3093=) c.7683A>G (p.Ala2561=) n.9819A>G | ClinVar dbSNP |
6 | g.51748073T>G | CA450613419 | PKHD1 | c.9543A>C (p.Ala3181=) c.9414A>C (p.Ala3138=) c.9405A>C (p.Ala3135=) c.8901A>C (p.Ala2967=) c.8832A>C (p.Ala2944=) c.3618A>C (p.Ala1206=) c.9468A>C (p.Ala3156=) c.9348A>C (p.Ala3116=) c.9279A>C (p.Ala3093=) c.7683A>C (p.Ala2561=) n.9819A>C | |
6 | g.51748073_51748076delinsAAA | CA2580075436 | PKHD1 | c.9540_9543delinsTTT (p.Leu3180PhefsTer3) c.9411_9414delinsTTT (p.Leu3137PhefsTer3) c.9402_9405delinsTTT (p.Leu3134PhefsTer3) c.8898_8901delinsTTT (p.Leu2966PhefsTer3) c.8829_8832delinsTTT (p.Leu2943PhefsTer3) c.3615_3618delinsTTT (p.Leu1205PhefsTer3) c.9465_9468delinsTTT (p.Leu3155PhefsTer3) c.9345_9348delinsTTT (p.Leu3115PhefsTer3) c.9276_9279delinsTTT (p.Leu3092PhefsTer3) c.7680_7683delinsTTT (p.Leu2560PhefsTer3) n.9816_9819delinsTTT | ClinVar |
6 | g.51748074G>A | CA364420838 | PKHD1 | c.9542C>T (p.Ala3181Val) c.9413C>T (p.Ala3138Val) c.9404C>T (p.Ala3135Val) c.8900C>T (p.Ala2967Val) c.8831C>T (p.Ala2944Val) c.3617C>T (p.Ala1206Val) c.9467C>T (p.Ala3156Val) c.9347C>T (p.Ala3116Val) c.9278C>T (p.Ala3093Val) c.7682C>T (p.Ala2561Val) n.9818C>T | |
6 | g.51748074G>C | CA364420836 | PKHD1 | c.9542C>G (p.Ala3181Gly) c.9413C>G (p.Ala3138Gly) c.9404C>G (p.Ala3135Gly) c.8900C>G (p.Ala2967Gly) c.8831C>G (p.Ala2944Gly) c.3617C>G (p.Ala1206Gly) c.9467C>G (p.Ala3156Gly) c.9347C>G (p.Ala3116Gly) c.9278C>G (p.Ala3093Gly) c.7682C>G (p.Ala2561Gly) n.9818C>G | |
6 | g.51748074G>T | CA364420837 | PKHD1 | c.9542C>A (p.Ala3181Glu) c.9413C>A (p.Ala3138Glu) c.9404C>A (p.Ala3135Glu) c.8900C>A (p.Ala2967Glu) c.8831C>A (p.Ala2944Glu) c.3617C>A (p.Ala1206Glu) c.9467C>A (p.Ala3156Glu) c.9347C>A (p.Ala3116Glu) c.9278C>A (p.Ala3093Glu) c.7682C>A (p.Ala2561Glu) n.9818C>A | |
6 | g.51748075C>A | CA364420839 | PKHD1 | c.9541G>T (p.Ala3181Ser) c.9412G>T (p.Ala3138Ser) c.9403G>T (p.Ala3135Ser) c.8899G>T (p.Ala2967Ser) c.8830G>T (p.Ala2944Ser) c.3616G>T (p.Ala1206Ser) c.9466G>T (p.Ala3156Ser) c.9346G>T (p.Ala3116Ser) c.9277G>T (p.Ala3093Ser) c.7681G>T (p.Ala2561Ser) n.9817G>T | |
6 | g.51748075C= | CA1628502461 | PKHD1 | c.9541G= (p.Ala3181=) c.9412G= (p.Ala3138=) c.9403G= (p.Ala3135=) c.8899G= (p.Ala2967=) c.8830G= (p.Ala2944=) c.3616G= (p.Ala1206=) c.9466G= (p.Ala3156=) c.9346G= (p.Ala3116=) c.9277G= (p.Ala3093=) c.7681G= (p.Ala2561=) n.9817G= | |
6 | g.51748075C>G | CA364420840 | PKHD1 | c.9541G>C (p.Ala3181Pro) c.9412G>C (p.Ala3138Pro) c.9403G>C (p.Ala3135Pro) c.8899G>C (p.Ala2967Pro) c.8830G>C (p.Ala2944Pro) c.3616G>C (p.Ala1206Pro) c.9466G>C (p.Ala3156Pro) c.9346G>C (p.Ala3116Pro) c.9277G>C (p.Ala3093Pro) c.7681G>C (p.Ala2561Pro) n.9817G>C | |
6 | g.51748075C>T | CA3851377 | PKHD1 | c.9541G>A (p.Ala3181Thr) c.9412G>A (p.Ala3138Thr) c.9403G>A (p.Ala3135Thr) c.8899G>A (p.Ala2967Thr) c.8830G>A (p.Ala2944Thr) c.3616G>A (p.Ala1206Thr) c.9466G>A (p.Ala3156Thr) c.9346G>A (p.Ala3116Thr) c.9277G>A (p.Ala3093Thr) c.7681G>A (p.Ala2561Thr) n.9817G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748076C>A | CA364420841 | PKHD1 | c.9540G>T (p.Leu3180Phe) c.9411G>T (p.Leu3137Phe) c.9402G>T (p.Leu3134Phe) c.8898G>T (p.Leu2966Phe) c.8829G>T (p.Leu2943Phe) c.3615G>T (p.Leu1205Phe) c.9465G>T (p.Leu3155Phe) c.9345G>T (p.Leu3115Phe) c.9276G>T (p.Leu3092Phe) c.7680G>T (p.Leu2560Phe) n.9816G>T | |
6 | g.51748076C>G | CA364420842 | PKHD1 | c.9540G>C (p.Leu3180Phe) c.9411G>C (p.Leu3137Phe) c.9402G>C (p.Leu3134Phe) c.8898G>C (p.Leu2966Phe) c.8829G>C (p.Leu2943Phe) c.3615G>C (p.Leu1205Phe) c.9465G>C (p.Leu3155Phe) c.9345G>C (p.Leu3115Phe) c.9276G>C (p.Leu3092Phe) c.7680G>C (p.Leu2560Phe) n.9816G>C | |
6 | g.51748076C>T | CA450613420 | PKHD1 | c.9540G>A (p.Leu3180=) c.9411G>A (p.Leu3137=) c.9402G>A (p.Leu3134=) c.8898G>A (p.Leu2966=) c.8829G>A (p.Leu2943=) c.3615G>A (p.Leu1205=) c.9465G>A (p.Leu3155=) c.9345G>A (p.Leu3115=) c.9276G>A (p.Leu3092=) c.7680G>A (p.Leu2560=) n.9816G>A | |
6 | g.51748077A>C | CA364420843 | PKHD1 | c.9539T>G (p.Leu3180Trp) c.9410T>G (p.Leu3137Trp) c.9401T>G (p.Leu3134Trp) c.8897T>G (p.Leu2966Trp) c.8828T>G (p.Leu2943Trp) c.3614T>G (p.Leu1205Trp) c.9464T>G (p.Leu3155Trp) c.9344T>G (p.Leu3115Trp) c.9275T>G (p.Leu3092Trp) c.7679T>G (p.Leu2560Trp) n.9815T>G | |
6 | g.51748077A>G | CA364420844 | PKHD1 | c.9539T>C (p.Leu3180Ser) c.9410T>C (p.Leu3137Ser) c.9401T>C (p.Leu3134Ser) c.8897T>C (p.Leu2966Ser) c.8828T>C (p.Leu2943Ser) c.3614T>C (p.Leu1205Ser) c.9464T>C (p.Leu3155Ser) c.9344T>C (p.Leu3115Ser) c.9275T>C (p.Leu3092Ser) c.7679T>C (p.Leu2560Ser) n.9815T>C | |
6 | g.51748077A>T | CA364420845 | PKHD1 | c.9539T>A (p.Leu3180Ter) c.9410T>A (p.Leu3137Ter) c.9401T>A (p.Leu3134Ter) c.8897T>A (p.Leu2966Ter) c.8828T>A (p.Leu2943Ter) c.3614T>A (p.Leu1205Ter) c.9464T>A (p.Leu3155Ter) c.9344T>A (p.Leu3115Ter) c.9275T>A (p.Leu3092Ter) c.7679T>A (p.Leu2560Ter) n.9815T>A | |
6 | g.51748078A>C | CA364420846 | PKHD1 | c.9538T>G (p.Leu3180Val) c.9409T>G (p.Leu3137Val) c.9400T>G (p.Leu3134Val) c.8896T>G (p.Leu2966Val) c.8827T>G (p.Leu2943Val) c.3613T>G (p.Leu1205Val) c.9463T>G (p.Leu3155Val) c.9343T>G (p.Leu3115Val) c.9274T>G (p.Leu3092Val) c.7678T>G (p.Leu2560Val) n.9814T>G | |
6 | g.51748078A>G | CA450613422 | PKHD1 | c.9538T>C (p.Leu3180=) c.9409T>C (p.Leu3137=) c.9400T>C (p.Leu3134=) c.8896T>C (p.Leu2966=) c.8827T>C (p.Leu2943=) c.3613T>C (p.Leu1205=) c.9463T>C (p.Leu3155=) c.9343T>C (p.Leu3115=) c.9274T>C (p.Leu3092=) c.7678T>C (p.Leu2560=) n.9814T>C | |
6 | g.51748078A>T | CA364420847 | PKHD1 | c.9538T>A (p.Leu3180Met) c.9409T>A (p.Leu3137Met) c.9400T>A (p.Leu3134Met) c.8896T>A (p.Leu2966Met) c.8827T>A (p.Leu2943Met) c.3613T>A (p.Leu1205Met) c.9463T>A (p.Leu3155Met) c.9343T>A (p.Leu3115Met) c.9274T>A (p.Leu3092Met) c.7678T>A (p.Leu2560Met) n.9814T>A | |
6 | g.51748079A>C | CA450613423 | PKHD1 | c.9537T>G (p.Leu3179=) c.9408T>G (p.Leu3136=) c.9399T>G (p.Leu3133=) c.8895T>G (p.Leu2965=) c.8826T>G (p.Leu2942=) c.3612T>G (p.Leu1204=) c.9462T>G (p.Leu3154=) c.9342T>G (p.Leu3114=) c.9273T>G (p.Leu3091=) c.7677T>G (p.Leu2559=) n.9813T>G | |
6 | g.51748079A>G | CA450613424 | PKHD1 | c.9537T>C (p.Leu3179=) c.9408T>C (p.Leu3136=) c.9399T>C (p.Leu3133=) c.8895T>C (p.Leu2965=) c.8826T>C (p.Leu2942=) c.3612T>C (p.Leu1204=) c.9462T>C (p.Leu3154=) c.9342T>C (p.Leu3114=) c.9273T>C (p.Leu3091=) c.7677T>C (p.Leu2559=) n.9813T>C | ClinVar dbSNP |
6 | g.51748079A>T | CA450613425 | PKHD1 | c.9537T>A (p.Leu3179=) c.9408T>A (p.Leu3136=) c.9399T>A (p.Leu3133=) c.8895T>A (p.Leu2965=) c.8826T>A (p.Leu2942=) c.3612T>A (p.Leu1204=) c.9462T>A (p.Leu3154=) c.9342T>A (p.Leu3114=) c.9273T>A (p.Leu3091=) c.7677T>A (p.Leu2559=) n.9813T>A | |
6 | g.51748080A>C | CA364420850 | PKHD1 | c.9536T>G (p.Leu3179Arg) c.9407T>G (p.Leu3136Arg) c.9398T>G (p.Leu3133Arg) c.8894T>G (p.Leu2965Arg) c.8825T>G (p.Leu2942Arg) c.3611T>G (p.Leu1204Arg) c.9461T>G (p.Leu3154Arg) c.9341T>G (p.Leu3114Arg) c.9272T>G (p.Leu3091Arg) c.7676T>G (p.Leu2559Arg) n.9812T>G | |
6 | g.51748080A>G | CA364420849 | PKHD1 | c.9536T>C (p.Leu3179Pro) c.9407T>C (p.Leu3136Pro) c.9398T>C (p.Leu3133Pro) c.8894T>C (p.Leu2965Pro) c.8825T>C (p.Leu2942Pro) c.3611T>C (p.Leu1204Pro) c.9461T>C (p.Leu3154Pro) c.9341T>C (p.Leu3114Pro) c.9272T>C (p.Leu3091Pro) c.7676T>C (p.Leu2559Pro) n.9812T>C | |
6 | g.51748080A>T | CA364420848 | PKHD1 | c.9536T>A (p.Leu3179His) c.9407T>A (p.Leu3136His) c.9398T>A (p.Leu3133His) c.8894T>A (p.Leu2965His) c.8825T>A (p.Leu2942His) c.3611T>A (p.Leu1204His) c.9461T>A (p.Leu3154His) c.9341T>A (p.Leu3114His) c.9272T>A (p.Leu3091His) c.7676T>A (p.Leu2559His) n.9812T>A | |
6 | g.51748081G>A | CA138896103 | PKHD1 | c.9535C>T (p.Leu3179Phe) c.9406C>T (p.Leu3136Phe) c.9397C>T (p.Leu3133Phe) c.8893C>T (p.Leu2965Phe) c.8824C>T (p.Leu2942Phe) c.3610C>T (p.Leu1204Phe) c.9460C>T (p.Leu3154Phe) c.9340C>T (p.Leu3114Phe) c.9271C>T (p.Leu3091Phe) c.7675C>T (p.Leu2559Phe) n.9811C>T | dbSNP gnomAD v4 |
6 | g.51748081G>C | CA364420851 | PKHD1 | c.9535C>G (p.Leu3179Val) c.9406C>G (p.Leu3136Val) c.9397C>G (p.Leu3133Val) c.8893C>G (p.Leu2965Val) c.8824C>G (p.Leu2942Val) c.3610C>G (p.Leu1204Val) c.9460C>G (p.Leu3154Val) c.9340C>G (p.Leu3114Val) c.9271C>G (p.Leu3091Val) c.7675C>G (p.Leu2559Val) n.9811C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748081G= | CA1628502465 | PKHD1 | c.9535C= (p.Leu3179=) c.9406C= (p.Leu3136=) c.9397C= (p.Leu3133=) c.8893C= (p.Leu2965=) c.8824C= (p.Leu2942=) c.3610C= (p.Leu1204=) c.9460C= (p.Leu3154=) c.9340C= (p.Leu3114=) c.9271C= (p.Leu3091=) c.7675C= (p.Leu2559=) n.9811C= | |
6 | g.51748081G>T | CA364420852 | PKHD1 | c.9535C>A (p.Leu3179Ile) c.9406C>A (p.Leu3136Ile) c.9397C>A (p.Leu3133Ile) c.8893C>A (p.Leu2965Ile) c.8824C>A (p.Leu2942Ile) c.3610C>A (p.Leu1204Ile) c.9460C>A (p.Leu3154Ile) c.9340C>A (p.Leu3114Ile) c.9271C>A (p.Leu3091Ile) c.7675C>A (p.Leu2559Ile) n.9811C>A | |
6 | g.51748082A>C | CA450613429 | PKHD1 | c.9534T>G (p.Gly3178=) c.9405T>G (p.Gly3135=) c.9396T>G (p.Gly3132=) c.8892T>G (p.Gly2964=) c.8823T>G (p.Gly2941=) c.3609T>G (p.Gly1203=) c.9459T>G (p.Gly3153=) c.9339T>G (p.Gly3113=) c.9270T>G (p.Gly3090=) c.7674T>G (p.Gly2558=) n.9810T>G | |
6 | g.51748082A>G | CA450613426 | PKHD1 | c.9534T>C (p.Gly3178=) c.9405T>C (p.Gly3135=) c.9396T>C (p.Gly3132=) c.8892T>C (p.Gly2964=) c.8823T>C (p.Gly2941=) c.3609T>C (p.Gly1203=) c.9459T>C (p.Gly3153=) c.9339T>C (p.Gly3113=) c.9270T>C (p.Gly3090=) c.7674T>C (p.Gly2558=) n.9810T>C | |
6 | g.51748082A>T | CA450613428 | PKHD1 | c.9534T>A (p.Gly3178=) c.9405T>A (p.Gly3135=) c.9396T>A (p.Gly3132=) c.8892T>A (p.Gly2964=) c.8823T>A (p.Gly2941=) c.3609T>A (p.Gly1203=) c.9459T>A (p.Gly3153=) c.9339T>A (p.Gly3113=) c.9270T>A (p.Gly3090=) c.7674T>A (p.Gly2558=) n.9810T>A | |
6 | g.51748083C>A | CA364420853 | PKHD1 | c.9533G>T (p.Gly3178Val) c.9404G>T (p.Gly3135Val) c.9395G>T (p.Gly3132Val) c.8891G>T (p.Gly2964Val) c.8822G>T (p.Gly2941Val) c.3608G>T (p.Gly1203Val) c.9458G>T (p.Gly3153Val) c.9338G>T (p.Gly3113Val) c.9269G>T (p.Gly3090Val) c.7673G>T (p.Gly2558Val) n.9809G>T | dbSNP |
6 | g.51748083C= | CA1628502470 | PKHD1 | c.9533G= (p.Gly3178=) c.9404G= (p.Gly3135=) c.9395G= (p.Gly3132=) c.8891G= (p.Gly2964=) c.8822G= (p.Gly2941=) c.3608G= (p.Gly1203=) c.9458G= (p.Gly3153=) c.9338G= (p.Gly3113=) c.9269G= (p.Gly3090=) c.7673G= (p.Gly2558=) n.9809G= | |
6 | g.51748083C>G | CA364420854 | PKHD1 | c.9533G>C (p.Gly3178Ala) c.9404G>C (p.Gly3135Ala) c.9395G>C (p.Gly3132Ala) c.8891G>C (p.Gly2964Ala) c.8822G>C (p.Gly2941Ala) c.3608G>C (p.Gly1203Ala) c.9458G>C (p.Gly3153Ala) c.9338G>C (p.Gly3113Ala) c.9269G>C (p.Gly3090Ala) c.7673G>C (p.Gly2558Ala) n.9809G>C | |
6 | g.51748083C>T | CA3851378 | PKHD1 | c.9533G>A (p.Gly3178Asp) c.9404G>A (p.Gly3135Asp) c.9395G>A (p.Gly3132Asp) c.8891G>A (p.Gly2964Asp) c.8822G>A (p.Gly2941Asp) c.3608G>A (p.Gly1203Asp) c.9458G>A (p.Gly3153Asp) c.9338G>A (p.Gly3113Asp) c.9269G>A (p.Gly3090Asp) c.7673G>A (p.Gly2558Asp) n.9809G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748084dup | CA913110677 | PKHD1 | c.9533dup (p.Leu3179SerfsTer23) c.9404dup (p.Leu3136SerfsTer23) c.9395dup (p.Leu3133SerfsTer23) c.8891dup (p.Leu2965SerfsTer23) c.8822dup (p.Leu2942SerfsTer23) c.3608dup (p.Leu1204SerfsTer23) c.9458dup (p.Leu3154SerfsTer23) c.9338dup (p.Leu3114SerfsTer23) c.9269dup (p.Leu3091SerfsTer23) c.7673dup (p.Leu2559SerfsTer23) n.9809dup | |
6 | g.51748084C>A | CA364420855 | PKHD1 | c.9532G>T (p.Gly3178Cys) c.9403G>T (p.Gly3135Cys) c.9394G>T (p.Gly3132Cys) c.8890G>T (p.Gly2964Cys) c.8821G>T (p.Gly2941Cys) c.3607G>T (p.Gly1203Cys) c.9457G>T (p.Gly3153Cys) c.9337G>T (p.Gly3113Cys) c.9268G>T (p.Gly3090Cys) c.7672G>T (p.Gly2558Cys) n.9808G>T | ClinVar gnomAD v4 |
6 | g.51748084C= | CA1628502479 | PKHD1 | c.9532G= (p.Gly3178=) c.9403G= (p.Gly3135=) c.9394G= (p.Gly3132=) c.8890G= (p.Gly2964=) c.8821G= (p.Gly2941=) c.3607G= (p.Gly1203=) c.9457G= (p.Gly3153=) c.9337G= (p.Gly3113=) c.9268G= (p.Gly3090=) c.7672G= (p.Gly2558=) n.9808G= | |
6 | g.51748084C>G | CA364420856 | PKHD1 | c.9532G>C (p.Gly3178Arg) c.9403G>C (p.Gly3135Arg) c.9394G>C (p.Gly3132Arg) c.8890G>C (p.Gly2964Arg) c.8821G>C (p.Gly2941Arg) c.3607G>C (p.Gly1203Arg) c.9457G>C (p.Gly3153Arg) c.9337G>C (p.Gly3113Arg) c.9268G>C (p.Gly3090Arg) c.7672G>C (p.Gly2558Arg) n.9808G>C | |
6 | g.51748084C>T | CA364420857 | PKHD1 | c.9532G>A (p.Gly3178Ser) c.9403G>A (p.Gly3135Ser) c.9394G>A (p.Gly3132Ser) c.8890G>A (p.Gly2964Ser) c.8821G>A (p.Gly2941Ser) c.3607G>A (p.Gly1203Ser) c.9457G>A (p.Gly3153Ser) c.9337G>A (p.Gly3113Ser) c.9268G>A (p.Gly3090Ser) c.7672G>A (p.Gly2558Ser) n.9808G>A | gnomAD v4 |
6 | g.51748085A>C | CA364420858 | PKHD1 | c.9531T>G (p.Ile3177Met) c.9402T>G (p.Ile3134Met) c.9393T>G (p.Ile3131Met) c.8889T>G (p.Ile2963Met) c.8820T>G (p.Ile2940Met) c.3606T>G (p.Ile1202Met) c.9456T>G (p.Ile3152Met) c.9336T>G (p.Ile3112Met) c.9267T>G (p.Ile3089Met) c.7671T>G (p.Ile2557Met) n.9807T>G | |
6 | g.51748085A>G | CA450613433 | PKHD1 | c.9531T>C (p.Ile3177=) c.9402T>C (p.Ile3134=) c.9393T>C (p.Ile3131=) c.8889T>C (p.Ile2963=) c.8820T>C (p.Ile2940=) c.3606T>C (p.Ile1202=) c.9456T>C (p.Ile3152=) c.9336T>C (p.Ile3112=) c.9267T>C (p.Ile3089=) c.7671T>C (p.Ile2557=) n.9807T>C | |
6 | g.51748085A>T | CA450613434 | PKHD1 | c.9531T>A (p.Ile3177=) c.9402T>A (p.Ile3134=) c.9393T>A (p.Ile3131=) c.8889T>A (p.Ile2963=) c.8820T>A (p.Ile2940=) c.3606T>A (p.Ile1202=) c.9456T>A (p.Ile3152=) c.9336T>A (p.Ile3112=) c.9267T>A (p.Ile3089=) c.7671T>A (p.Ile2557=) n.9807T>A | |
6 | g.51748086dup | CA2679078631 | PKHD1 | c.9531dup (p.Gly3178TrpfsTer24) c.9402dup (p.Gly3135TrpfsTer24) c.9393dup (p.Gly3132TrpfsTer24) c.8889dup (p.Gly2964TrpfsTer24) c.8820dup (p.Gly2941TrpfsTer24) c.3606dup (p.Gly1203TrpfsTer24) c.9456dup (p.Gly3153TrpfsTer24) c.9336dup (p.Gly3113TrpfsTer24) c.9267dup (p.Gly3090TrpfsTer24) c.7671dup (p.Gly2558TrpfsTer24) n.9807dup | gnomAD v4 |
6 | g.51748085_51748086dup | CA658821795 | PKHD1 | c.9530_9531dup (p.Gly3178LeufsTer6) c.9401_9402dup (p.Gly3135LeufsTer6) c.9392_9393dup (p.Gly3132LeufsTer6) c.8888_8889dup (p.Gly2964LeufsTer6) c.8819_8820dup (p.Gly2941LeufsTer6) c.3605_3606dup (p.Gly1203LeufsTer6) c.9455_9456dup (p.Gly3153LeufsTer6) c.9335_9336dup (p.Gly3113LeufsTer6) c.9266_9267dup (p.Gly3090LeufsTer6) c.7670_7671dup (p.Gly2558LeufsTer6) n.9806_9807dup | ClinVar dbSNP |
6 | g.51748086A= | CA1628502490 | PKHD1 | c.9530T= (p.Ile3177=) c.9401T= (p.Ile3134=) c.9392T= (p.Ile3131=) c.8888T= (p.Ile2963=) c.8819T= (p.Ile2940=) c.3605T= (p.Ile1202=) c.9455T= (p.Ile3152=) c.9335T= (p.Ile3112=) c.9266T= (p.Ile3089=) c.7670T= (p.Ile2557=) n.9806T= | |
6 | g.51748086A>C | CA364420859 | PKHD1 | c.9530T>G (p.Ile3177Ser) c.9401T>G (p.Ile3134Ser) c.9392T>G (p.Ile3131Ser) c.8888T>G (p.Ile2963Ser) c.8819T>G (p.Ile2940Ser) c.3605T>G (p.Ile1202Ser) c.9455T>G (p.Ile3152Ser) c.9335T>G (p.Ile3112Ser) c.9266T>G (p.Ile3089Ser) c.7670T>G (p.Ile2557Ser) n.9806T>G | |
6 | g.51748086A>G | CA3851379 | PKHD1 | c.9530T>C (p.Ile3177Thr) c.9401T>C (p.Ile3134Thr) c.9392T>C (p.Ile3131Thr) c.8888T>C (p.Ile2963Thr) c.8819T>C (p.Ile2940Thr) c.3605T>C (p.Ile1202Thr) c.9455T>C (p.Ile3152Thr) c.9335T>C (p.Ile3112Thr) c.9266T>C (p.Ile3089Thr) c.7670T>C (p.Ile2557Thr) n.9806T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748086A>T | CA364420860 | PKHD1 | c.9530T>A (p.Ile3177Asn) c.9401T>A (p.Ile3134Asn) c.9392T>A (p.Ile3131Asn) c.8888T>A (p.Ile2963Asn) c.8819T>A (p.Ile2940Asn) c.3605T>A (p.Ile1202Asn) c.9455T>A (p.Ile3152Asn) c.9335T>A (p.Ile3112Asn) c.9266T>A (p.Ile3089Asn) c.7670T>A (p.Ile2557Asn) n.9806T>A | |
6 | g.51748087T>A | CA364420862 | PKHD1 | c.9529A>T (p.Ile3177Phe) c.9400A>T (p.Ile3134Phe) c.9391A>T (p.Ile3131Phe) c.8887A>T (p.Ile2963Phe) c.8818A>T (p.Ile2940Phe) c.3604A>T (p.Ile1202Phe) c.9454A>T (p.Ile3152Phe) c.9334A>T (p.Ile3112Phe) c.9265A>T (p.Ile3089Phe) c.7669A>T (p.Ile2557Phe) n.9805A>T | COSMIC |
6 | g.51748087T>C | CA3851380 | PKHD1 | c.9529A>G (p.Ile3177Val) c.9400A>G (p.Ile3134Val) c.9391A>G (p.Ile3131Val) c.8887A>G (p.Ile2963Val) c.8818A>G (p.Ile2940Val) c.3604A>G (p.Ile1202Val) c.9454A>G (p.Ile3152Val) c.9334A>G (p.Ile3112Val) c.9265A>G (p.Ile3089Val) c.7669A>G (p.Ile2557Val) n.9805A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.51748087T>G | CA364420861 | PKHD1 | c.9529A>C (p.Ile3177Leu) c.9400A>C (p.Ile3134Leu) c.9391A>C (p.Ile3131Leu) c.8887A>C (p.Ile2963Leu) c.8818A>C (p.Ile2940Leu) c.3604A>C (p.Ile1202Leu) c.9454A>C (p.Ile3152Leu) c.9334A>C (p.Ile3112Leu) c.9265A>C (p.Ile3089Leu) c.7669A>C (p.Ile2557Leu) n.9805A>C | |
6 | g.51748087T= | CA1628502498 | PKHD1 | c.9529A= (p.Ile3177=) c.9400A= (p.Ile3134=) c.9391A= (p.Ile3131=) c.8887A= (p.Ile2963=) c.8818A= (p.Ile2940=) c.3604A= (p.Ile1202=) c.9454A= (p.Ile3152=) c.9334A= (p.Ile3112=) c.9265A= (p.Ile3089=) c.7669A= (p.Ile2557=) n.9805A= | |
6 | g.51748088A>C | CA450613436 | PKHD1 | c.9528T>G (p.Thr3176=) c.9399T>G (p.Thr3133=) c.9390T>G (p.Thr3130=) c.8886T>G (p.Thr2962=) c.8817T>G (p.Thr2939=) c.3603T>G (p.Thr1201=) c.9453T>G (p.Thr3151=) c.9333T>G (p.Thr3111=) c.9264T>G (p.Thr3088=) c.7668T>G (p.Thr2556=) n.9804T>G | |
6 | g.51748088A>G | CA450613437 | PKHD1 | c.9528T>C (p.Thr3176=) c.9399T>C (p.Thr3133=) c.9390T>C (p.Thr3130=) c.8886T>C (p.Thr2962=) c.8817T>C (p.Thr2939=) c.3603T>C (p.Thr1201=) c.9453T>C (p.Thr3151=) c.9333T>C (p.Thr3111=) c.9264T>C (p.Thr3088=) c.7668T>C (p.Thr2556=) n.9804T>C | gnomAD v4 |
6 | g.51748088A>T | CA450613438 | PKHD1 | c.9528T>A (p.Thr3176=) c.9399T>A (p.Thr3133=) c.9390T>A (p.Thr3130=) c.8886T>A (p.Thr2962=) c.8817T>A (p.Thr2939=) c.3603T>A (p.Thr1201=) c.9453T>A (p.Thr3151=) c.9333T>A (p.Thr3111=) c.9264T>A (p.Thr3088=) c.7668T>A (p.Thr2556=) n.9804T>A | |
6 | g.51748089G>A | CA364420863 | PKHD1 | c.9527C>T (p.Thr3176Ile) c.9398C>T (p.Thr3133Ile) c.9389C>T (p.Thr3130Ile) c.8885C>T (p.Thr2962Ile) c.8816C>T (p.Thr2939Ile) c.3602C>T (p.Thr1201Ile) c.9452C>T (p.Thr3151Ile) c.9332C>T (p.Thr3111Ile) c.9263C>T (p.Thr3088Ile) c.7667C>T (p.Thr2556Ile) n.9803C>T | |
6 | g.51748089G>C | CA364420865 | PKHD1 | c.9527C>G (p.Thr3176Ser) c.9398C>G (p.Thr3133Ser) c.9389C>G (p.Thr3130Ser) c.8885C>G (p.Thr2962Ser) c.8816C>G (p.Thr2939Ser) c.3602C>G (p.Thr1201Ser) c.9452C>G (p.Thr3151Ser) c.9332C>G (p.Thr3111Ser) c.9263C>G (p.Thr3088Ser) c.7667C>G (p.Thr2556Ser) n.9803C>G | |
6 | g.51748089G>T | CA364420864 | PKHD1 | c.9527C>A (p.Thr3176Asn) c.9398C>A (p.Thr3133Asn) c.9389C>A (p.Thr3130Asn) c.8885C>A (p.Thr2962Asn) c.8816C>A (p.Thr2939Asn) c.3602C>A (p.Thr1201Asn) c.9452C>A (p.Thr3151Asn) c.9332C>A (p.Thr3111Asn) c.9263C>A (p.Thr3088Asn) c.7667C>A (p.Thr2556Asn) n.9803C>A | |
6 | g.51748090T>A | CA364420866 | PKHD1 | c.9526A>T (p.Thr3176Ser) c.9397A>T (p.Thr3133Ser) c.9388A>T (p.Thr3130Ser) c.8884A>T (p.Thr2962Ser) c.8815A>T (p.Thr2939Ser) c.3601A>T (p.Thr1201Ser) c.9451A>T (p.Thr3151Ser) c.9331A>T (p.Thr3111Ser) c.9262A>T (p.Thr3088Ser) c.7666A>T (p.Thr2556Ser) n.9802A>T | |
6 | g.51748090T>C | CA138896145 | PKHD1 | c.9526A>G (p.Thr3176Ala) c.9397A>G (p.Thr3133Ala) c.9388A>G (p.Thr3130Ala) c.8884A>G (p.Thr2962Ala) c.8815A>G (p.Thr2939Ala) c.3601A>G (p.Thr1201Ala) c.9451A>G (p.Thr3151Ala) c.9331A>G (p.Thr3111Ala) c.9262A>G (p.Thr3088Ala) c.7666A>G (p.Thr2556Ala) n.9802A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748090T>G | CA364420867 | PKHD1 | c.9526A>C (p.Thr3176Pro) c.9397A>C (p.Thr3133Pro) c.9388A>C (p.Thr3130Pro) c.8884A>C (p.Thr2962Pro) c.8815A>C (p.Thr2939Pro) c.3601A>C (p.Thr1201Pro) c.9451A>C (p.Thr3151Pro) c.9331A>C (p.Thr3111Pro) c.9262A>C (p.Thr3088Pro) c.7666A>C (p.Thr2556Pro) n.9802A>C | |
6 | g.51748090T= | CA1628502503 | PKHD1 | c.9526A= (p.Thr3176=) c.9397A= (p.Thr3133=) c.9388A= (p.Thr3130=) c.8884A= (p.Thr2962=) c.8815A= (p.Thr2939=) c.3601A= (p.Thr1201=) c.9451A= (p.Thr3151=) c.9331A= (p.Thr3111=) c.9262A= (p.Thr3088=) c.7666A= (p.Thr2556=) n.9802A= | |
6 | g.51748091A>C | CA364420868 | PKHD1 | c.9525T>G (p.Asn3175Lys) c.9396T>G (p.Asn3132Lys) c.9387T>G (p.Asn3129Lys) c.8883T>G (p.Asn2961Lys) c.8814T>G (p.Asn2938Lys) c.3600T>G (p.Asn1200Lys) c.9450T>G (p.Asn3150Lys) c.9330T>G (p.Asn3110Lys) c.9261T>G (p.Asn3087Lys) c.7665T>G (p.Asn2555Lys) n.9801T>G | |
6 | g.51748091A>G | CA450613440 | PKHD1 | c.9525T>C (p.Asn3175=) c.9396T>C (p.Asn3132=) c.9387T>C (p.Asn3129=) c.8883T>C (p.Asn2961=) c.8814T>C (p.Asn2938=) c.3600T>C (p.Asn1200=) c.9450T>C (p.Asn3150=) c.9330T>C (p.Asn3110=) c.9261T>C (p.Asn3087=) c.7665T>C (p.Asn2555=) n.9801T>C | gnomAD v4 |
6 | g.51748091A>T | CA364420869 | PKHD1 | c.9525T>A (p.Asn3175Lys) c.9396T>A (p.Asn3132Lys) c.9387T>A (p.Asn3129Lys) c.8883T>A (p.Asn2961Lys) c.8814T>A (p.Asn2938Lys) c.3600T>A (p.Asn1200Lys) c.9450T>A (p.Asn3150Lys) c.9330T>A (p.Asn3110Lys) c.9261T>A (p.Asn3087Lys) c.7665T>A (p.Asn2555Lys) n.9801T>A | dbSNP |
6 | g.51748092T>A | CA364420870 | PKHD1 | c.9524A>T (p.Asn3175Ile) c.9395A>T (p.Asn3132Ile) c.9386A>T (p.Asn3129Ile) c.8882A>T (p.Asn2961Ile) c.8813A>T (p.Asn2938Ile) c.3599A>T (p.Asn1200Ile) c.9449A>T (p.Asn3150Ile) c.9329A>T (p.Asn3110Ile) c.9260A>T (p.Asn3087Ile) c.7664A>T (p.Asn2555Ile) n.9800A>T | |
6 | g.51748092T>C | CA364420872 | PKHD1 | c.9524A>G (p.Asn3175Ser) c.9395A>G (p.Asn3132Ser) c.9386A>G (p.Asn3129Ser) c.8882A>G (p.Asn2961Ser) c.8813A>G (p.Asn2938Ser) c.3599A>G (p.Asn1200Ser) c.9449A>G (p.Asn3150Ser) c.9329A>G (p.Asn3110Ser) c.9260A>G (p.Asn3087Ser) c.7664A>G (p.Asn2555Ser) n.9800A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748092T>G | CA364420871 | PKHD1 | c.9524A>C (p.Asn3175Thr) c.9395A>C (p.Asn3132Thr) c.9386A>C (p.Asn3129Thr) c.8882A>C (p.Asn2961Thr) c.8813A>C (p.Asn2938Thr) c.3599A>C (p.Asn1200Thr) c.9449A>C (p.Asn3150Thr) c.9329A>C (p.Asn3110Thr) c.9260A>C (p.Asn3087Thr) c.7664A>C (p.Asn2555Thr) n.9800A>C | |
6 | g.51748092T= | CA1628502513 | PKHD1 | c.9524A= (p.Asn3175=) c.9395A= (p.Asn3132=) c.9386A= (p.Asn3129=) c.8882A= (p.Asn2961=) c.8813A= (p.Asn2938=) c.3599A= (p.Asn1200=) c.9449A= (p.Asn3150=) c.9329A= (p.Asn3110=) c.9260A= (p.Asn3087=) c.7664A= (p.Asn2555=) n.9800A= | |
6 | g.51748092_51748093delinsC | CA2695206427 | PKHD1 | c.9523_9524delinsG (p.Asn3175ValfsTer8) c.9394_9395delinsG (p.Asn3132ValfsTer8) c.9385_9386delinsG (p.Asn3129ValfsTer8) c.8881_8882delinsG (p.Asn2961ValfsTer8) c.8812_8813delinsG (p.Asn2938ValfsTer8) c.3598_3599delinsG (p.Asn1200ValfsTer8) c.9448_9449delinsG (p.Asn3150ValfsTer8) c.9328_9329delinsG (p.Asn3110ValfsTer8) c.9259_9260delinsG (p.Asn3087ValfsTer8) c.7663_7664delinsG (p.Asn2555ValfsTer8) n.9799_9800delinsG | |
6 | g.51748093T>A | CA364420873 | PKHD1 | c.9523A>T (p.Asn3175Tyr) c.9394A>T (p.Asn3132Tyr) c.9385A>T (p.Asn3129Tyr) c.8881A>T (p.Asn2961Tyr) c.8812A>T (p.Asn2938Tyr) c.3598A>T (p.Asn1200Tyr) c.9448A>T (p.Asn3150Tyr) c.9328A>T (p.Asn3110Tyr) c.9259A>T (p.Asn3087Tyr) c.7663A>T (p.Asn2555Tyr) n.9799A>T | |
6 | g.51748093T>C | CA364420874 | PKHD1 | c.9523A>G (p.Asn3175Asp) c.9394A>G (p.Asn3132Asp) c.9385A>G (p.Asn3129Asp) c.8881A>G (p.Asn2961Asp) c.8812A>G (p.Asn2938Asp) c.3598A>G (p.Asn1200Asp) c.9448A>G (p.Asn3150Asp) c.9328A>G (p.Asn3110Asp) c.9259A>G (p.Asn3087Asp) c.7663A>G (p.Asn2555Asp) n.9799A>G | |
6 | g.51748093T>G | CA364420875 | PKHD1 | c.9523A>C (p.Asn3175His) c.9394A>C (p.Asn3132His) c.9385A>C (p.Asn3129His) c.8881A>C (p.Asn2961His) c.8812A>C (p.Asn2938His) c.3598A>C (p.Asn1200His) c.9448A>C (p.Asn3150His) c.9328A>C (p.Asn3110His) c.9259A>C (p.Asn3087His) c.7663A>C (p.Asn2555His) n.9799A>C | |
6 | g.51748094G>A | CA450613441 | PKHD1 | c.9522C>T (p.Asp3174=) c.9393C>T (p.Asp3131=) c.9384C>T (p.Asp3128=) c.8880C>T (p.Asp2960=) c.8811C>T (p.Asp2937=) c.3597C>T (p.Asp1199=) c.9447C>T (p.Asp3149=) c.9327C>T (p.Asp3109=) c.9258C>T (p.Asp3086=) c.7662C>T (p.Asp2554=) n.9798C>T | ClinVar dbSNP |
6 | g.51748094G>C | CA364420876 | PKHD1 | c.9522C>G (p.Asp3174Glu) c.9393C>G (p.Asp3131Glu) c.9384C>G (p.Asp3128Glu) c.8880C>G (p.Asp2960Glu) c.8811C>G (p.Asp2937Glu) c.3597C>G (p.Asp1199Glu) c.9447C>G (p.Asp3149Glu) c.9327C>G (p.Asp3109Glu) c.9258C>G (p.Asp3086Glu) c.7662C>G (p.Asp2554Glu) n.9798C>G | gnomAD v4 |
6 | g.51748094G= | CA1628502518 | PKHD1 | c.9522C= (p.Asp3174=) c.9393C= (p.Asp3131=) c.9384C= (p.Asp3128=) c.8880C= (p.Asp2960=) c.8811C= (p.Asp2937=) c.3597C= (p.Asp1199=) c.9447C= (p.Asp3149=) c.9327C= (p.Asp3109=) c.9258C= (p.Asp3086=) c.7662C= (p.Asp2554=) n.9798C= | |
6 | g.51748094G>T | CA364420877 | PKHD1 | c.9522C>A (p.Asp3174Glu) c.9393C>A (p.Asp3131Glu) c.9384C>A (p.Asp3128Glu) c.8880C>A (p.Asp2960Glu) c.8811C>A (p.Asp2937Glu) c.3597C>A (p.Asp1199Glu) c.9447C>A (p.Asp3149Glu) c.9327C>A (p.Asp3109Glu) c.9258C>A (p.Asp3086Glu) c.7662C>A (p.Asp2554Glu) n.9798C>A | |
6 | g.51748095T>A | CA364420878 | PKHD1 | c.9521A>T (p.Asp3174Val) c.9392A>T (p.Asp3131Val) c.9383A>T (p.Asp3128Val) c.8879A>T (p.Asp2960Val) c.8810A>T (p.Asp2937Val) c.3596A>T (p.Asp1199Val) c.9446A>T (p.Asp3149Val) c.9326A>T (p.Asp3109Val) c.9257A>T (p.Asp3086Val) c.7661A>T (p.Asp2554Val) n.9797A>T | dbSNP |
6 | g.51748095T>C | CA364420879 | PKHD1 | c.9521A>G (p.Asp3174Gly) c.9392A>G (p.Asp3131Gly) c.9383A>G (p.Asp3128Gly) c.8879A>G (p.Asp2960Gly) c.8810A>G (p.Asp2937Gly) c.3596A>G (p.Asp1199Gly) c.9446A>G (p.Asp3149Gly) c.9326A>G (p.Asp3109Gly) c.9257A>G (p.Asp3086Gly) c.7661A>G (p.Asp2554Gly) n.9797A>G | |
6 | g.51748095T>G | CA364420880 | PKHD1 | c.9521A>C (p.Asp3174Ala) c.9392A>C (p.Asp3131Ala) c.9383A>C (p.Asp3128Ala) c.8879A>C (p.Asp2960Ala) c.8810A>C (p.Asp2937Ala) c.3596A>C (p.Asp1199Ala) c.9446A>C (p.Asp3149Ala) c.9326A>C (p.Asp3109Ala) c.9257A>C (p.Asp3086Ala) c.7661A>C (p.Asp2554Ala) n.9797A>C | |
6 | g.51748095T= | CA1628502522 | PKHD1 | c.9521A= (p.Asp3174=) c.9392A= (p.Asp3131=) c.9383A= (p.Asp3128=) c.8879A= (p.Asp2960=) c.8810A= (p.Asp2937=) c.3596A= (p.Asp1199=) c.9446A= (p.Asp3149=) c.9326A= (p.Asp3109=) c.9257A= (p.Asp3086=) c.7661A= (p.Asp2554=) n.9797A= | |
6 | g.51748096C>A | CA364420881 | PKHD1 | c.9520G>T (p.Asp3174Tyr) c.9391G>T (p.Asp3131Tyr) c.9382G>T (p.Asp3128Tyr) c.8878G>T (p.Asp2960Tyr) c.8809G>T (p.Asp2937Tyr) c.3595G>T (p.Asp1199Tyr) c.9445G>T (p.Asp3149Tyr) c.9325G>T (p.Asp3109Tyr) c.9256G>T (p.Asp3086Tyr) c.7660G>T (p.Asp2554Tyr) n.9796G>T | |
6 | g.51748096C>G | CA364420882 | PKHD1 | c.9520G>C (p.Asp3174His) c.9391G>C (p.Asp3131His) c.9382G>C (p.Asp3128His) c.8878G>C (p.Asp2960His) c.8809G>C (p.Asp2937His) c.3595G>C (p.Asp1199His) c.9445G>C (p.Asp3149His) c.9325G>C (p.Asp3109His) c.9256G>C (p.Asp3086His) c.7660G>C (p.Asp2554His) n.9796G>C | |
6 | g.51748096C>T | CA364420883 | PKHD1 | c.9520G>A (p.Asp3174Asn) c.9391G>A (p.Asp3131Asn) c.9382G>A (p.Asp3128Asn) c.8878G>A (p.Asp2960Asn) c.8809G>A (p.Asp2937Asn) c.3595G>A (p.Asp1199Asn) c.9445G>A (p.Asp3149Asn) c.9325G>A (p.Asp3109Asn) c.9256G>A (p.Asp3086Asn) c.7660G>A (p.Asp2554Asn) n.9796G>A | |
6 | g.51748097T>A | CA450613444 | PKHD1 | c.9519A>T (p.Val3173=) c.9390A>T (p.Val3130=) c.9381A>T (p.Val3127=) c.8877A>T (p.Val2959=) c.8808A>T (p.Val2936=) c.3594A>T (p.Val1198=) c.9444A>T (p.Val3148=) c.9324A>T (p.Val3108=) c.9255A>T (p.Val3085=) c.7659A>T (p.Val2553=) n.9795A>T | |
6 | g.51748097T>C | CA450613445 | PKHD1 | c.9519A>G (p.Val3173=) c.9390A>G (p.Val3130=) c.9381A>G (p.Val3127=) c.8877A>G (p.Val2959=) c.8808A>G (p.Val2936=) c.3594A>G (p.Val1198=) c.9444A>G (p.Val3148=) c.9324A>G (p.Val3108=) c.9255A>G (p.Val3085=) c.7659A>G (p.Val2553=) n.9795A>G | |
6 | g.51748097T>G | CA450613446 | PKHD1 | c.9519A>C (p.Val3173=) c.9390A>C (p.Val3130=) c.9381A>C (p.Val3127=) c.8877A>C (p.Val2959=) c.8808A>C (p.Val2936=) c.3594A>C (p.Val1198=) c.9444A>C (p.Val3148=) c.9324A>C (p.Val3108=) c.9255A>C (p.Val3085=) c.7659A>C (p.Val2553=) n.9795A>C | |
6 | g.51748098A>C | CA364420884 | PKHD1 | c.9518T>G (p.Val3173Gly) c.9389T>G (p.Val3130Gly) c.9380T>G (p.Val3127Gly) c.8876T>G (p.Val2959Gly) c.8807T>G (p.Val2936Gly) c.3593T>G (p.Val1198Gly) c.9443T>G (p.Val3148Gly) c.9323T>G (p.Val3108Gly) c.9254T>G (p.Val3085Gly) c.7658T>G (p.Val2553Gly) n.9794T>G | |
6 | g.51748098A>G | CA364420886 | PKHD1 | c.9518T>C (p.Val3173Ala) c.9389T>C (p.Val3130Ala) c.9380T>C (p.Val3127Ala) c.8876T>C (p.Val2959Ala) c.8807T>C (p.Val2936Ala) c.3593T>C (p.Val1198Ala) c.9443T>C (p.Val3148Ala) c.9323T>C (p.Val3108Ala) c.9254T>C (p.Val3085Ala) c.7658T>C (p.Val2553Ala) n.9794T>C | |
6 | g.51748098A>T | CA364420885 | PKHD1 | c.9518T>A (p.Val3173Glu) c.9389T>A (p.Val3130Glu) c.9380T>A (p.Val3127Glu) c.8876T>A (p.Val2959Glu) c.8807T>A (p.Val2936Glu) c.3593T>A (p.Val1198Glu) c.9443T>A (p.Val3148Glu) c.9323T>A (p.Val3108Glu) c.9254T>A (p.Val3085Glu) c.7658T>A (p.Val2553Glu) n.9794T>A | |
6 | g.51748099C>A | CA364420887 | PKHD1 | c.9517G>T (p.Val3173Leu) c.9388G>T (p.Val3130Leu) c.9379G>T (p.Val3127Leu) c.8875G>T (p.Val2959Leu) c.8806G>T (p.Val2936Leu) c.3592G>T (p.Val1198Leu) c.9442G>T (p.Val3148Leu) c.9322G>T (p.Val3108Leu) c.9253G>T (p.Val3085Leu) c.7657G>T (p.Val2553Leu) n.9793G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748099C= | CA1628502528 | PKHD1 | c.9517G= (p.Val3173=) c.9388G= (p.Val3130=) c.9379G= (p.Val3127=) c.8875G= (p.Val2959=) c.8806G= (p.Val2936=) c.3592G= (p.Val1198=) c.9442G= (p.Val3148=) c.9322G= (p.Val3108=) c.9253G= (p.Val3085=) c.7657G= (p.Val2553=) n.9793G= | |
6 | g.51748099C>G | CA364420888 | PKHD1 | c.9517G>C (p.Val3173Leu) c.9388G>C (p.Val3130Leu) c.9379G>C (p.Val3127Leu) c.8875G>C (p.Val2959Leu) c.8806G>C (p.Val2936Leu) c.3592G>C (p.Val1198Leu) c.9442G>C (p.Val3148Leu) c.9322G>C (p.Val3108Leu) c.9253G>C (p.Val3085Leu) c.7657G>C (p.Val2553Leu) n.9793G>C | |
6 | g.51748099C>T | CA364420889 | PKHD1 | c.9517G>A (p.Val3173Ile) c.9388G>A (p.Val3130Ile) c.9379G>A (p.Val3127Ile) c.8875G>A (p.Val2959Ile) c.8806G>A (p.Val2936Ile) c.3592G>A (p.Val1198Ile) c.9442G>A (p.Val3148Ile) c.9322G>A (p.Val3108Ile) c.9253G>A (p.Val3085Ile) c.7657G>A (p.Val2553Ile) n.9793G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748100C>A | CA450613448 | PKHD1 | c.9516G>T (p.Leu3172=) c.9387G>T (p.Leu3129=) c.9378G>T (p.Leu3126=) c.8874G>T (p.Leu2958=) c.8805G>T (p.Leu2935=) c.3591G>T (p.Leu1197=) c.9441G>T (p.Leu3147=) c.9321G>T (p.Leu3107=) c.9252G>T (p.Leu3084=) c.7656G>T (p.Leu2552=) n.9792G>T | |
6 | g.51748100C= | CA1628502533 | PKHD1 | c.9516G= (p.Leu3172=) c.9387G= (p.Leu3129=) c.9378G= (p.Leu3126=) c.8874G= (p.Leu2958=) c.8805G= (p.Leu2935=) c.3591G= (p.Leu1197=) c.9441G= (p.Leu3147=) c.9321G= (p.Leu3107=) c.9252G= (p.Leu3084=) c.7656G= (p.Leu2552=) n.9792G= | |
6 | g.51748100C>G | CA450613449 | PKHD1 | c.9516G>C (p.Leu3172=) c.9387G>C (p.Leu3129=) c.9378G>C (p.Leu3126=) c.8874G>C (p.Leu2958=) c.8805G>C (p.Leu2935=) c.3591G>C (p.Leu1197=) c.9441G>C (p.Leu3147=) c.9321G>C (p.Leu3107=) c.9252G>C (p.Leu3084=) c.7656G>C (p.Leu2552=) n.9792G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748100C>T | CA450613450 | PKHD1 | c.9516G>A (p.Leu3172=) c.9387G>A (p.Leu3129=) c.9378G>A (p.Leu3126=) c.8874G>A (p.Leu2958=) c.8805G>A (p.Leu2935=) c.3591G>A (p.Leu1197=) c.9441G>A (p.Leu3147=) c.9321G>A (p.Leu3107=) c.9252G>A (p.Leu3084=) c.7656G>A (p.Leu2552=) n.9792G>A | gnomAD v4 |
6 | g.51748101A>C | CA364420890 | PKHD1 | c.9515T>G (p.Leu3172Arg) c.9386T>G (p.Leu3129Arg) c.9377T>G (p.Leu3126Arg) c.8873T>G (p.Leu2958Arg) c.8804T>G (p.Leu2935Arg) c.3590T>G (p.Leu1197Arg) c.9440T>G (p.Leu3147Arg) c.9320T>G (p.Leu3107Arg) c.9251T>G (p.Leu3084Arg) c.7655T>G (p.Leu2552Arg) n.9791T>G | |
6 | g.51748101A>G | CA364420891 | PKHD1 | c.9515T>C (p.Leu3172Pro) c.9386T>C (p.Leu3129Pro) c.9377T>C (p.Leu3126Pro) c.8873T>C (p.Leu2958Pro) c.8804T>C (p.Leu2935Pro) c.3590T>C (p.Leu1197Pro) c.9440T>C (p.Leu3147Pro) c.9320T>C (p.Leu3107Pro) c.9251T>C (p.Leu3084Pro) c.7655T>C (p.Leu2552Pro) n.9791T>C | |
6 | g.51748101A>T | CA364420892 | PKHD1 | c.9515T>A (p.Leu3172Gln) c.9386T>A (p.Leu3129Gln) c.9377T>A (p.Leu3126Gln) c.8873T>A (p.Leu2958Gln) c.8804T>A (p.Leu2935Gln) c.3590T>A (p.Leu1197Gln) c.9440T>A (p.Leu3147Gln) c.9320T>A (p.Leu3107Gln) c.9251T>A (p.Leu3084Gln) c.7655T>A (p.Leu2552Gln) n.9791T>A | |
6 | g.51748102del | CA2679078632 | PKHD1 | c.9514del (p.Leu3172TrpfsTer2) c.9385del (p.Leu3129TrpfsTer2) c.9376del (p.Leu3126TrpfsTer2) c.8872del (p.Leu2958TrpfsTer2) c.8803del (p.Leu2935TrpfsTer2) c.3589del (p.Leu1197TrpfsTer2) c.9439del (p.Leu3147TrpfsTer2) c.9319del (p.Leu3107TrpfsTer2) c.9250del (p.Leu3084TrpfsTer2) c.7654del (p.Leu2552TrpfsTer2) n.9790del | gnomAD v4 |
6 | g.51748102G>A | CA450613451 | PKHD1 | c.9514C>T (p.Leu3172=) c.9385C>T (p.Leu3129=) c.9376C>T (p.Leu3126=) c.8872C>T (p.Leu2958=) c.8803C>T (p.Leu2935=) c.3589C>T (p.Leu1197=) c.9439C>T (p.Leu3147=) c.9319C>T (p.Leu3107=) c.9250C>T (p.Leu3084=) c.7654C>T (p.Leu2552=) n.9790C>T | |
6 | g.51748102G>C | CA364420893 | PKHD1 | c.9514C>G (p.Leu3172Val) c.9385C>G (p.Leu3129Val) c.9376C>G (p.Leu3126Val) c.8872C>G (p.Leu2958Val) c.8803C>G (p.Leu2935Val) c.3589C>G (p.Leu1197Val) c.9439C>G (p.Leu3147Val) c.9319C>G (p.Leu3107Val) c.9250C>G (p.Leu3084Val) c.7654C>G (p.Leu2552Val) n.9790C>G | |
6 | g.51748102G>T | CA364420894 | PKHD1 | c.9514C>A (p.Leu3172Met) c.9385C>A (p.Leu3129Met) c.9376C>A (p.Leu3126Met) c.8872C>A (p.Leu2958Met) c.8803C>A (p.Leu2935Met) c.3589C>A (p.Leu1197Met) c.9439C>A (p.Leu3147Met) c.9319C>A (p.Leu3107Met) c.9250C>A (p.Leu3084Met) c.7654C>A (p.Leu2552Met) n.9790C>A | |
6 | g.51748103A>C | CA450613453 | PKHD1 | c.9513T>G (p.Thr3171=) c.9384T>G (p.Thr3128=) c.9375T>G (p.Thr3125=) c.8871T>G (p.Thr2957=) c.8802T>G (p.Thr2934=) c.3588T>G (p.Thr1196=) c.9438T>G (p.Thr3146=) c.9318T>G (p.Thr3106=) c.9249T>G (p.Thr3083=) c.7653T>G (p.Thr2551=) n.9789T>G | |
6 | g.51748103A>G | CA450613455 | PKHD1 | c.9513T>C (p.Thr3171=) c.9384T>C (p.Thr3128=) c.9375T>C (p.Thr3125=) c.8871T>C (p.Thr2957=) c.8802T>C (p.Thr2934=) c.3588T>C (p.Thr1196=) c.9438T>C (p.Thr3146=) c.9318T>C (p.Thr3106=) c.9249T>C (p.Thr3083=) c.7653T>C (p.Thr2551=) n.9789T>C | ClinVar gnomAD v4 |
6 | g.51748103A>T | CA450613454 | PKHD1 | c.9513T>A (p.Thr3171=) c.9384T>A (p.Thr3128=) c.9375T>A (p.Thr3125=) c.8871T>A (p.Thr2957=) c.8802T>A (p.Thr2934=) c.3588T>A (p.Thr1196=) c.9438T>A (p.Thr3146=) c.9318T>A (p.Thr3106=) c.9249T>A (p.Thr3083=) c.7653T>A (p.Thr2551=) n.9789T>A | |
6 | g.51748104G>A | CA364420896 | PKHD1 | c.9512C>T (p.Thr3171Ile) c.9383C>T (p.Thr3128Ile) c.9374C>T (p.Thr3125Ile) c.8870C>T (p.Thr2957Ile) c.8801C>T (p.Thr2934Ile) c.3587C>T (p.Thr1196Ile) c.9437C>T (p.Thr3146Ile) c.9317C>T (p.Thr3106Ile) c.9248C>T (p.Thr3083Ile) c.7652C>T (p.Thr2551Ile) n.9788C>T | gnomAD v4 |
6 | g.51748104G>C | CA364420897 | PKHD1 | c.9512C>G (p.Thr3171Ser) c.9383C>G (p.Thr3128Ser) c.9374C>G (p.Thr3125Ser) c.8870C>G (p.Thr2957Ser) c.8801C>G (p.Thr2934Ser) c.3587C>G (p.Thr1196Ser) c.9437C>G (p.Thr3146Ser) c.9317C>G (p.Thr3106Ser) c.9248C>G (p.Thr3083Ser) c.7652C>G (p.Thr2551Ser) n.9788C>G | |
6 | g.51748104G>T | CA364420895 | PKHD1 | c.9512C>A (p.Thr3171Asn) c.9383C>A (p.Thr3128Asn) c.9374C>A (p.Thr3125Asn) c.8870C>A (p.Thr2957Asn) c.8801C>A (p.Thr2934Asn) c.3587C>A (p.Thr1196Asn) c.9437C>A (p.Thr3146Asn) c.9317C>A (p.Thr3106Asn) c.9248C>A (p.Thr3083Asn) c.7652C>A (p.Thr2551Asn) n.9788C>A | |
6 | g.51748105T>A | CA364420898 | PKHD1 | c.9511A>T (p.Thr3171Ser) c.9382A>T (p.Thr3128Ser) c.9373A>T (p.Thr3125Ser) c.8869A>T (p.Thr2957Ser) c.8800A>T (p.Thr2934Ser) c.3586A>T (p.Thr1196Ser) c.9436A>T (p.Thr3146Ser) c.9316A>T (p.Thr3106Ser) c.9247A>T (p.Thr3083Ser) c.7651A>T (p.Thr2551Ser) n.9787A>T | |
6 | g.51748105T>C | CA364420899 | PKHD1 | c.9511A>G (p.Thr3171Ala) c.9382A>G (p.Thr3128Ala) c.9373A>G (p.Thr3125Ala) c.8869A>G (p.Thr2957Ala) c.8800A>G (p.Thr2934Ala) c.3586A>G (p.Thr1196Ala) c.9436A>G (p.Thr3146Ala) c.9316A>G (p.Thr3106Ala) c.9247A>G (p.Thr3083Ala) c.7651A>G (p.Thr2551Ala) n.9787A>G | |
6 | g.51748105T>G | CA364420900 | PKHD1 | c.9511A>C (p.Thr3171Pro) c.9382A>C (p.Thr3128Pro) c.9373A>C (p.Thr3125Pro) c.8869A>C (p.Thr2957Pro) c.8800A>C (p.Thr2934Pro) c.3586A>C (p.Thr1196Pro) c.9436A>C (p.Thr3146Pro) c.9316A>C (p.Thr3106Pro) c.9247A>C (p.Thr3083Pro) c.7651A>C (p.Thr2551Pro) n.9787A>C | |
6 | g.51748106A>C | CA364420901 | PKHD1 | c.9510T>G (p.Ile3170Met) c.9381T>G (p.Ile3127Met) c.9372T>G (p.Ile3124Met) c.8868T>G (p.Ile2956Met) c.8799T>G (p.Ile2933Met) c.3585T>G (p.Ile1195Met) c.9435T>G (p.Ile3145Met) c.9315T>G (p.Ile3105Met) c.9246T>G (p.Ile3082Met) c.7650T>G (p.Ile2550Met) n.9786T>G | |
6 | g.51748106A>G | CA450613459 | PKHD1 | c.9510T>C (p.Ile3170=) c.9381T>C (p.Ile3127=) c.9372T>C (p.Ile3124=) c.8868T>C (p.Ile2956=) c.8799T>C (p.Ile2933=) c.3585T>C (p.Ile1195=) c.9435T>C (p.Ile3145=) c.9315T>C (p.Ile3105=) c.9246T>C (p.Ile3082=) c.7650T>C (p.Ile2550=) n.9786T>C | |
6 | g.51748106A>T | CA450613460 | PKHD1 | c.9510T>A (p.Ile3170=) c.9381T>A (p.Ile3127=) c.9372T>A (p.Ile3124=) c.8868T>A (p.Ile2956=) c.8799T>A (p.Ile2933=) c.3585T>A (p.Ile1195=) c.9435T>A (p.Ile3145=) c.9315T>A (p.Ile3105=) c.9246T>A (p.Ile3082=) c.7650T>A (p.Ile2550=) n.9786T>A | |
6 | g.51748107A>C | CA364420902 | PKHD1 | c.9509T>G (p.Ile3170Ser) c.9380T>G (p.Ile3127Ser) c.9371T>G (p.Ile3124Ser) c.8867T>G (p.Ile2956Ser) c.8798T>G (p.Ile2933Ser) c.3584T>G (p.Ile1195Ser) c.9434T>G (p.Ile3145Ser) c.9314T>G (p.Ile3105Ser) c.9245T>G (p.Ile3082Ser) c.7649T>G (p.Ile2550Ser) n.9785T>G | |
6 | g.51748107A>G | CA364420903 | PKHD1 | c.9509T>C (p.Ile3170Thr) c.9380T>C (p.Ile3127Thr) c.9371T>C (p.Ile3124Thr) c.8867T>C (p.Ile2956Thr) c.8798T>C (p.Ile2933Thr) c.3584T>C (p.Ile1195Thr) c.9434T>C (p.Ile3145Thr) c.9314T>C (p.Ile3105Thr) c.9245T>C (p.Ile3082Thr) c.7649T>C (p.Ile2550Thr) n.9785T>C | |
6 | g.51748107A>T | CA364420904 | PKHD1 | c.9509T>A (p.Ile3170Asn) c.9380T>A (p.Ile3127Asn) c.9371T>A (p.Ile3124Asn) c.8867T>A (p.Ile2956Asn) c.8798T>A (p.Ile2933Asn) c.3584T>A (p.Ile1195Asn) c.9434T>A (p.Ile3145Asn) c.9314T>A (p.Ile3105Asn) c.9245T>A (p.Ile3082Asn) c.7649T>A (p.Ile2550Asn) n.9785T>A | |
6 | g.51748108T>A | CA364420905 | PKHD1 | c.9508A>T (p.Ile3170Phe) c.9379A>T (p.Ile3127Phe) c.9370A>T (p.Ile3124Phe) c.8866A>T (p.Ile2956Phe) c.8797A>T (p.Ile2933Phe) c.3583A>T (p.Ile1195Phe) c.9433A>T (p.Ile3145Phe) c.9313A>T (p.Ile3105Phe) c.9244A>T (p.Ile3082Phe) c.7648A>T (p.Ile2550Phe) n.9784A>T | |
6 | g.51748108T>C | CA364420906 | PKHD1 | c.9508A>G (p.Ile3170Val) c.9379A>G (p.Ile3127Val) c.9370A>G (p.Ile3124Val) c.8866A>G (p.Ile2956Val) c.8797A>G (p.Ile2933Val) c.3583A>G (p.Ile1195Val) c.9433A>G (p.Ile3145Val) c.9313A>G (p.Ile3105Val) c.9244A>G (p.Ile3082Val) c.7648A>G (p.Ile2550Val) n.9784A>G | |
6 | g.51748108T>G | CA364420907 | PKHD1 | c.9508A>C (p.Ile3170Leu) c.9379A>C (p.Ile3127Leu) c.9370A>C (p.Ile3124Leu) c.8866A>C (p.Ile2956Leu) c.8797A>C (p.Ile2933Leu) c.3583A>C (p.Ile1195Leu) c.9433A>C (p.Ile3145Leu) c.9313A>C (p.Ile3105Leu) c.9244A>C (p.Ile3082Leu) c.7648A>C (p.Ile2550Leu) n.9784A>C | |
6 | g.51748109G>A | CA450613461 | PKHD1 | c.9507C>T (p.Asn3169=) c.9378C>T (p.Asn3126=) c.9369C>T (p.Asn3123=) c.8865C>T (p.Asn2955=) c.8796C>T (p.Asn2932=) c.3582C>T (p.Asn1194=) c.9432C>T (p.Asn3144=) c.9312C>T (p.Asn3104=) c.9243C>T (p.Asn3081=) c.7647C>T (p.Asn2549=) n.9783C>T | ClinVar dbSNP gnomAD v4 |
6 | g.51748109G>C | CA364420908 | PKHD1 | c.9507C>G (p.Asn3169Lys) c.9378C>G (p.Asn3126Lys) c.9369C>G (p.Asn3123Lys) c.8865C>G (p.Asn2955Lys) c.8796C>G (p.Asn2932Lys) c.3582C>G (p.Asn1194Lys) c.9432C>G (p.Asn3144Lys) c.9312C>G (p.Asn3104Lys) c.9243C>G (p.Asn3081Lys) c.7647C>G (p.Asn2549Lys) n.9783C>G | |
6 | g.51748109G= | CA1628502537 | PKHD1 | c.9507C= (p.Asn3169=) c.9378C= (p.Asn3126=) c.9369C= (p.Asn3123=) c.8865C= (p.Asn2955=) c.8796C= (p.Asn2932=) c.3582C= (p.Asn1194=) c.9432C= (p.Asn3144=) c.9312C= (p.Asn3104=) c.9243C= (p.Asn3081=) c.7647C= (p.Asn2549=) n.9783C= | |
6 | g.51748109G>T | CA364420909 | PKHD1 | c.9507C>A (p.Asn3169Lys) c.9378C>A (p.Asn3126Lys) c.9369C>A (p.Asn3123Lys) c.8865C>A (p.Asn2955Lys) c.8796C>A (p.Asn2932Lys) c.3582C>A (p.Asn1194Lys) c.9432C>A (p.Asn3144Lys) c.9312C>A (p.Asn3104Lys) c.9243C>A (p.Asn3081Lys) c.7647C>A (p.Asn2549Lys) n.9783C>A | |
6 | g.51748110T>A | CA364420912 | PKHD1 | c.9506A>T (p.Asn3169Ile) c.9377A>T (p.Asn3126Ile) c.9368A>T (p.Asn3123Ile) c.8864A>T (p.Asn2955Ile) c.8795A>T (p.Asn2932Ile) c.3581A>T (p.Asn1194Ile) c.9431A>T (p.Asn3144Ile) c.9311A>T (p.Asn3104Ile) c.9242A>T (p.Asn3081Ile) c.7646A>T (p.Asn2549Ile) n.9782A>T | |
6 | g.51748110T>C | CA364420910 | PKHD1 | c.9506A>G (p.Asn3169Ser) c.9377A>G (p.Asn3126Ser) c.9368A>G (p.Asn3123Ser) c.8864A>G (p.Asn2955Ser) c.8795A>G (p.Asn2932Ser) c.3581A>G (p.Asn1194Ser) c.9431A>G (p.Asn3144Ser) c.9311A>G (p.Asn3104Ser) c.9242A>G (p.Asn3081Ser) c.7646A>G (p.Asn2549Ser) n.9782A>G | |
6 | g.51748110T>G | CA364420911 | PKHD1 | c.9506A>C (p.Asn3169Thr) c.9377A>C (p.Asn3126Thr) c.9368A>C (p.Asn3123Thr) c.8864A>C (p.Asn2955Thr) c.8795A>C (p.Asn2932Thr) c.3581A>C (p.Asn1194Thr) c.9431A>C (p.Asn3144Thr) c.9311A>C (p.Asn3104Thr) c.9242A>C (p.Asn3081Thr) c.7646A>C (p.Asn2549Thr) n.9782A>C | |
6 | g.51748111T>A | CA364420913 | PKHD1 | c.9505A>T (p.Asn3169Tyr) c.9376A>T (p.Asn3126Tyr) c.9367A>T (p.Asn3123Tyr) c.8863A>T (p.Asn2955Tyr) c.8794A>T (p.Asn2932Tyr) c.3580A>T (p.Asn1194Tyr) c.9430A>T (p.Asn3144Tyr) c.9310A>T (p.Asn3104Tyr) c.9241A>T (p.Asn3081Tyr) c.7645A>T (p.Asn2549Tyr) n.9781A>T | |
6 | g.51748111T>C | CA364420914 | PKHD1 | c.9505A>G (p.Asn3169Asp) c.9376A>G (p.Asn3126Asp) c.9367A>G (p.Asn3123Asp) c.8863A>G (p.Asn2955Asp) c.8794A>G (p.Asn2932Asp) c.3580A>G (p.Asn1194Asp) c.9430A>G (p.Asn3144Asp) c.9310A>G (p.Asn3104Asp) c.9241A>G (p.Asn3081Asp) c.7645A>G (p.Asn2549Asp) n.9781A>G | |
6 | g.51748111T>G | CA364420915 | PKHD1 | c.9505A>C (p.Asn3169His) c.9376A>C (p.Asn3126His) c.9367A>C (p.Asn3123His) c.8863A>C (p.Asn2955His) c.8794A>C (p.Asn2932His) c.3580A>C (p.Asn1194His) c.9430A>C (p.Asn3144His) c.9310A>C (p.Asn3104His) c.9241A>C (p.Asn3081His) c.7645A>C (p.Asn2549His) n.9781A>C | |
6 | g.51748112C>A | CA364420916 | PKHD1 | c.9504G>T (p.Glu3168Asp) c.9375G>T (p.Glu3125Asp) c.9366G>T (p.Glu3122Asp) c.8862G>T (p.Glu2954Asp) c.8793G>T (p.Glu2931Asp) c.3579G>T (p.Glu1193Asp) c.9429G>T (p.Glu3143Asp) c.9309G>T (p.Glu3103Asp) c.9240G>T (p.Glu3080Asp) c.7644G>T (p.Glu2548Asp) n.9780G>T | |
6 | g.51748112C= | CA1628502541 | PKHD1 | c.9504G= (p.Glu3168=) c.9375G= (p.Glu3125=) c.9366G= (p.Glu3122=) c.8862G= (p.Glu2954=) c.8793G= (p.Glu2931=) c.3579G= (p.Glu1193=) c.9429G= (p.Glu3143=) c.9309G= (p.Glu3103=) c.9240G= (p.Glu3080=) c.7644G= (p.Glu2548=) n.9780G= | |
6 | g.51748112C>G | CA364420917 | PKHD1 | c.9504G>C (p.Glu3168Asp) c.9375G>C (p.Glu3125Asp) c.9366G>C (p.Glu3122Asp) c.8862G>C (p.Glu2954Asp) c.8793G>C (p.Glu2931Asp) c.3579G>C (p.Glu1193Asp) c.9429G>C (p.Glu3143Asp) c.9309G>C (p.Glu3103Asp) c.9240G>C (p.Glu3080Asp) c.7644G>C (p.Glu2548Asp) n.9780G>C | |
6 | g.51748112C>T | CA138896146 | PKHD1 | c.9504G>A (p.Glu3168=) c.9375G>A (p.Glu3125=) c.9366G>A (p.Glu3122=) c.8862G>A (p.Glu2954=) c.8793G>A (p.Glu2931=) c.3579G>A (p.Glu1193=) c.9429G>A (p.Glu3143=) c.9309G>A (p.Glu3103=) c.9240G>A (p.Glu3080=) c.7644G>A (p.Glu2548=) n.9780G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748113T>A | CA364420918 | PKHD1 | c.9503A>T (p.Glu3168Val) c.9374A>T (p.Glu3125Val) c.9365A>T (p.Glu3122Val) c.8861A>T (p.Glu2954Val) c.8792A>T (p.Glu2931Val) c.3578A>T (p.Glu1193Val) c.9428A>T (p.Glu3143Val) c.9308A>T (p.Glu3103Val) c.9239A>T (p.Glu3080Val) c.7643A>T (p.Glu2548Val) n.9779A>T | |
6 | g.51748113T>C | CA364420919 | PKHD1 | c.9503A>G (p.Glu3168Gly) c.9374A>G (p.Glu3125Gly) c.9365A>G (p.Glu3122Gly) c.8861A>G (p.Glu2954Gly) c.8792A>G (p.Glu2931Gly) c.3578A>G (p.Glu1193Gly) c.9428A>G (p.Glu3143Gly) c.9308A>G (p.Glu3103Gly) c.9239A>G (p.Glu3080Gly) c.7643A>G (p.Glu2548Gly) n.9779A>G | |
6 | g.51748113T>G | CA364420920 | PKHD1 | c.9503A>C (p.Glu3168Ala) c.9374A>C (p.Glu3125Ala) c.9365A>C (p.Glu3122Ala) c.8861A>C (p.Glu2954Ala) c.8792A>C (p.Glu2931Ala) c.3578A>C (p.Glu1193Ala) c.9428A>C (p.Glu3143Ala) c.9308A>C (p.Glu3103Ala) c.9239A>C (p.Glu3080Ala) c.7643A>C (p.Glu2548Ala) n.9779A>C | |
6 | g.51748114C>A | CA364420921 | PKHD1 | c.9502G>T (p.Glu3168Ter) c.9373G>T (p.Glu3125Ter) c.9364G>T (p.Glu3122Ter) c.8860G>T (p.Glu2954Ter) c.8791G>T (p.Glu2931Ter) c.3577G>T (p.Glu1193Ter) c.9427G>T (p.Glu3143Ter) c.9307G>T (p.Glu3103Ter) c.9238G>T (p.Glu3080Ter) c.7642G>T (p.Glu2548Ter) n.9778G>T | gnomAD v4 |
6 | g.51748114C>G | CA364420922 | PKHD1 | c.9502G>C (p.Glu3168Gln) c.9373G>C (p.Glu3125Gln) c.9364G>C (p.Glu3122Gln) c.8860G>C (p.Glu2954Gln) c.8791G>C (p.Glu2931Gln) c.3577G>C (p.Glu1193Gln) c.9427G>C (p.Glu3143Gln) c.9307G>C (p.Glu3103Gln) c.9238G>C (p.Glu3080Gln) c.7642G>C (p.Glu2548Gln) n.9778G>C | |
6 | g.51748114C>T | CA364420923 | PKHD1 | c.9502G>A (p.Glu3168Lys) c.9373G>A (p.Glu3125Lys) c.9364G>A (p.Glu3122Lys) c.8860G>A (p.Glu2954Lys) c.8791G>A (p.Glu2931Lys) c.3577G>A (p.Glu1193Lys) c.9427G>A (p.Glu3143Lys) c.9307G>A (p.Glu3103Lys) c.9238G>A (p.Glu3080Lys) c.7642G>A (p.Glu2548Lys) n.9778G>A | gnomAD v4 |
6 | g.51748115T>A | CA450613463 | PKHD1 | c.9501A>T (p.Ile3167=) c.9372A>T (p.Ile3124=) c.9363A>T (p.Ile3121=) c.8859A>T (p.Ile2953=) c.8790A>T (p.Ile2930=) c.3576A>T (p.Ile1192=) c.9426A>T (p.Ile3142=) c.9306A>T (p.Ile3102=) c.9237A>T (p.Ile3079=) c.7641A>T (p.Ile2547=) n.9777A>T | |
6 | g.51748115T>C | CA364420924 | PKHD1 | c.9501A>G (p.Ile3167Met) c.9372A>G (p.Ile3124Met) c.9363A>G (p.Ile3121Met) c.8859A>G (p.Ile2953Met) c.8790A>G (p.Ile2930Met) c.3576A>G (p.Ile1192Met) c.9426A>G (p.Ile3142Met) c.9306A>G (p.Ile3102Met) c.9237A>G (p.Ile3079Met) c.7641A>G (p.Ile2547Met) n.9777A>G | dbSNP gnomAD v2 |
6 | g.51748115T>G | CA450613465 | PKHD1 | c.9501A>C (p.Ile3167=) c.9372A>C (p.Ile3124=) c.9363A>C (p.Ile3121=) c.8859A>C (p.Ile2953=) c.8790A>C (p.Ile2930=) c.3576A>C (p.Ile1192=) c.9426A>C (p.Ile3142=) c.9306A>C (p.Ile3102=) c.9237A>C (p.Ile3079=) c.7641A>C (p.Ile2547=) n.9777A>C | gnomAD v4 |
6 | g.51748115T= | CA1628502546 | PKHD1 | c.9501A= (p.Ile3167=) c.9372A= (p.Ile3124=) c.9363A= (p.Ile3121=) c.8859A= (p.Ile2953=) c.8790A= (p.Ile2930=) c.3576A= (p.Ile1192=) c.9426A= (p.Ile3142=) c.9306A= (p.Ile3102=) c.9237A= (p.Ile3079=) c.7641A= (p.Ile2547=) n.9777A= | |
6 | g.51748116A= | CA1628502550 | PKHD1 | c.9500T= (p.Ile3167=) c.9371T= (p.Ile3124=) c.9362T= (p.Ile3121=) c.8858T= (p.Ile2953=) c.8789T= (p.Ile2930=) c.3575T= (p.Ile1192=) c.9425T= (p.Ile3142=) c.9305T= (p.Ile3102=) c.9236T= (p.Ile3079=) c.7640T= (p.Ile2547=) n.9776T= | |
6 | g.51748116A>C | CA364420926 | PKHD1 | c.9500T>G (p.Ile3167Arg) c.9371T>G (p.Ile3124Arg) c.9362T>G (p.Ile3121Arg) c.8858T>G (p.Ile2953Arg) c.8789T>G (p.Ile2930Arg) c.3575T>G (p.Ile1192Arg) c.9425T>G (p.Ile3142Arg) c.9305T>G (p.Ile3102Arg) c.9236T>G (p.Ile3079Arg) c.7640T>G (p.Ile2547Arg) n.9776T>G | gnomAD v4 |
6 | g.51748116A>G | CA3851381 | PKHD1 | c.9500T>C (p.Ile3167Thr) c.9371T>C (p.Ile3124Thr) c.9362T>C (p.Ile3121Thr) c.8858T>C (p.Ile2953Thr) c.8789T>C (p.Ile2930Thr) c.3575T>C (p.Ile1192Thr) c.9425T>C (p.Ile3142Thr) c.9305T>C (p.Ile3102Thr) c.9236T>C (p.Ile3079Thr) c.7640T>C (p.Ile2547Thr) n.9776T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748116A>T | CA364420925 | PKHD1 | c.9500T>A (p.Ile3167Lys) c.9371T>A (p.Ile3124Lys) c.9362T>A (p.Ile3121Lys) c.8858T>A (p.Ile2953Lys) c.8789T>A (p.Ile2930Lys) c.3575T>A (p.Ile1192Lys) c.9425T>A (p.Ile3142Lys) c.9305T>A (p.Ile3102Lys) c.9236T>A (p.Ile3079Lys) c.7640T>A (p.Ile2547Lys) n.9776T>A | |
6 | g.51748117T>A | CA364420927 | PKHD1 | c.9499A>T (p.Ile3167Leu) c.9370A>T (p.Ile3124Leu) c.9361A>T (p.Ile3121Leu) c.8857A>T (p.Ile2953Leu) c.8788A>T (p.Ile2930Leu) c.3574A>T (p.Ile1192Leu) c.9424A>T (p.Ile3142Leu) c.9304A>T (p.Ile3102Leu) c.9235A>T (p.Ile3079Leu) c.7639A>T (p.Ile2547Leu) n.9775A>T | |
6 | g.51748117T>C | CA364420928 | PKHD1 | c.9499A>G (p.Ile3167Val) c.9370A>G (p.Ile3124Val) c.9361A>G (p.Ile3121Val) c.8857A>G (p.Ile2953Val) c.8788A>G (p.Ile2930Val) c.3574A>G (p.Ile1192Val) c.9424A>G (p.Ile3142Val) c.9304A>G (p.Ile3102Val) c.9235A>G (p.Ile3079Val) c.7639A>G (p.Ile2547Val) n.9775A>G | gnomAD v4 |
6 | g.51748117T>G | CA364420929 | PKHD1 | c.9499A>C (p.Ile3167Leu) c.9370A>C (p.Ile3124Leu) c.9361A>C (p.Ile3121Leu) c.8857A>C (p.Ile2953Leu) c.8788A>C (p.Ile2930Leu) c.3574A>C (p.Ile1192Leu) c.9424A>C (p.Ile3142Leu) c.9304A>C (p.Ile3102Leu) c.9235A>C (p.Ile3079Leu) c.7639A>C (p.Ile2547Leu) n.9775A>C | |
6 | g.51748118C>A | CA364420930 | PKHD1 | c.9498G>T (p.Glu3166Asp) c.9369G>T (p.Glu3123Asp) c.9360G>T (p.Glu3120Asp) c.8856G>T (p.Glu2952Asp) c.8787G>T (p.Glu2929Asp) c.3573G>T (p.Glu1191Asp) c.9423G>T (p.Glu3141Asp) c.9303G>T (p.Glu3101Asp) c.9234G>T (p.Glu3078Asp) c.7638G>T (p.Glu2546Asp) n.9774G>T | |
6 | g.51748118C>G | CA364420931 | PKHD1 | c.9498G>C (p.Glu3166Asp) c.9369G>C (p.Glu3123Asp) c.9360G>C (p.Glu3120Asp) c.8856G>C (p.Glu2952Asp) c.8787G>C (p.Glu2929Asp) c.3573G>C (p.Glu1191Asp) c.9423G>C (p.Glu3141Asp) c.9303G>C (p.Glu3101Asp) c.9234G>C (p.Glu3078Asp) c.7638G>C (p.Glu2546Asp) n.9774G>C | |
6 | g.51748118C>T | CA450613467 | PKHD1 | c.9498G>A (p.Glu3166=) c.9369G>A (p.Glu3123=) c.9360G>A (p.Glu3120=) c.8856G>A (p.Glu2952=) c.8787G>A (p.Glu2929=) c.3573G>A (p.Glu1191=) c.9423G>A (p.Glu3141=) c.9303G>A (p.Glu3101=) c.9234G>A (p.Glu3078=) c.7638G>A (p.Glu2546=) n.9774G>A | |
6 | g.51748119T>A | CA364420934 | PKHD1 | c.9497A>T (p.Glu3166Val) c.9368A>T (p.Glu3123Val) c.9359A>T (p.Glu3120Val) c.8855A>T (p.Glu2952Val) c.8786A>T (p.Glu2929Val) c.3572A>T (p.Glu1191Val) c.9422A>T (p.Glu3141Val) c.9302A>T (p.Glu3101Val) c.9233A>T (p.Glu3078Val) c.7637A>T (p.Glu2546Val) n.9773A>T | |
6 | g.51748119T>C | CA364420933 | PKHD1 | c.9497A>G (p.Glu3166Gly) c.9368A>G (p.Glu3123Gly) c.9359A>G (p.Glu3120Gly) c.8855A>G (p.Glu2952Gly) c.8786A>G (p.Glu2929Gly) c.3572A>G (p.Glu1191Gly) c.9422A>G (p.Glu3141Gly) c.9302A>G (p.Glu3101Gly) c.9233A>G (p.Glu3078Gly) c.7637A>G (p.Glu2546Gly) n.9773A>G | |
6 | g.51748119T>G | CA364420932 | PKHD1 | c.9497A>C (p.Glu3166Ala) c.9368A>C (p.Glu3123Ala) c.9359A>C (p.Glu3120Ala) c.8855A>C (p.Glu2952Ala) c.8786A>C (p.Glu2929Ala) c.3572A>C (p.Glu1191Ala) c.9422A>C (p.Glu3141Ala) c.9302A>C (p.Glu3101Ala) c.9233A>C (p.Glu3078Ala) c.7637A>C (p.Glu2546Ala) n.9773A>C | |
6 | g.51748120C>A | CA364420935 | PKHD1 | c.9496G>T (p.Glu3166Ter) c.9367G>T (p.Glu3123Ter) c.9358G>T (p.Glu3120Ter) c.8854G>T (p.Glu2952Ter) c.8785G>T (p.Glu2929Ter) c.3571G>T (p.Glu1191Ter) c.9421G>T (p.Glu3141Ter) c.9301G>T (p.Glu3101Ter) c.9232G>T (p.Glu3078Ter) c.7636G>T (p.Glu2546Ter) n.9772G>T | |
6 | g.51748120C= | CA1628502556 | PKHD1 | c.9496G= (p.Glu3166=) c.9367G= (p.Glu3123=) c.9358G= (p.Glu3120=) c.8854G= (p.Glu2952=) c.8785G= (p.Glu2929=) c.3571G= (p.Glu1191=) c.9421G= (p.Glu3141=) c.9301G= (p.Glu3101=) c.9232G= (p.Glu3078=) c.7636G= (p.Glu2546=) n.9772G= | |
6 | g.51748120C>G | CA3851382 | PKHD1 | c.9496G>C (p.Glu3166Gln) c.9367G>C (p.Glu3123Gln) c.9358G>C (p.Glu3120Gln) c.8854G>C (p.Glu2952Gln) c.8785G>C (p.Glu2929Gln) c.3571G>C (p.Glu1191Gln) c.9421G>C (p.Glu3141Gln) c.9301G>C (p.Glu3101Gln) c.9232G>C (p.Glu3078Gln) c.7636G>C (p.Glu2546Gln) n.9772G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748120C>T | CA364420936 | PKHD1 | c.9496G>A (p.Glu3166Lys) c.9367G>A (p.Glu3123Lys) c.9358G>A (p.Glu3120Lys) c.8854G>A (p.Glu2952Lys) c.8785G>A (p.Glu2929Lys) c.3571G>A (p.Glu1191Lys) c.9421G>A (p.Glu3141Lys) c.9301G>A (p.Glu3101Lys) c.9232G>A (p.Glu3078Lys) c.7636G>A (p.Glu2546Lys) n.9772G>A | gnomAD v4 |
6 | g.51748121C>A | CA450613469 | PKHD1 | c.9495G>T (p.Val3165=) c.9366G>T (p.Val3122=) c.9357G>T (p.Val3119=) c.8853G>T (p.Val2951=) c.8784G>T (p.Val2928=) c.3570G>T (p.Val1190=) c.9420G>T (p.Val3140=) c.9300G>T (p.Val3100=) c.9231G>T (p.Val3077=) c.7635G>T (p.Val2545=) n.9771G>T | |
6 | g.51748121C>G | CA450613470 | PKHD1 | c.9495G>C (p.Val3165=) c.9366G>C (p.Val3122=) c.9357G>C (p.Val3119=) c.8853G>C (p.Val2951=) c.8784G>C (p.Val2928=) c.3570G>C (p.Val1190=) c.9420G>C (p.Val3140=) c.9300G>C (p.Val3100=) c.9231G>C (p.Val3077=) c.7635G>C (p.Val2545=) n.9771G>C | |
6 | g.51748121C>T | CA450613471 | PKHD1 | c.9495G>A (p.Val3165=) c.9366G>A (p.Val3122=) c.9357G>A (p.Val3119=) c.8853G>A (p.Val2951=) c.8784G>A (p.Val2928=) c.3570G>A (p.Val1190=) c.9420G>A (p.Val3140=) c.9300G>A (p.Val3100=) c.9231G>A (p.Val3077=) c.7635G>A (p.Val2545=) n.9771G>A | COSMIC COSMIC |
6 | g.51748122A>C | CA364420937 | PKHD1 | c.9494T>G (p.Val3165Gly) c.9365T>G (p.Val3122Gly) c.9356T>G (p.Val3119Gly) c.8852T>G (p.Val2951Gly) c.8783T>G (p.Val2928Gly) c.3569T>G (p.Val1190Gly) c.9419T>G (p.Val3140Gly) c.9299T>G (p.Val3100Gly) c.9230T>G (p.Val3077Gly) c.7634T>G (p.Val2545Gly) n.9770T>G | |
6 | g.51748122A>G | CA364420938 | PKHD1 | c.9494T>C (p.Val3165Ala) c.9365T>C (p.Val3122Ala) c.9356T>C (p.Val3119Ala) c.8852T>C (p.Val2951Ala) c.8783T>C (p.Val2928Ala) c.3569T>C (p.Val1190Ala) c.9419T>C (p.Val3140Ala) c.9299T>C (p.Val3100Ala) c.9230T>C (p.Val3077Ala) c.7634T>C (p.Val2545Ala) n.9770T>C | |
6 | g.51748122A>T | CA364420939 | PKHD1 | c.9494T>A (p.Val3165Glu) c.9365T>A (p.Val3122Glu) c.9356T>A (p.Val3119Glu) c.8852T>A (p.Val2951Glu) c.8783T>A (p.Val2928Glu) c.3569T>A (p.Val1190Glu) c.9419T>A (p.Val3140Glu) c.9299T>A (p.Val3100Glu) c.9230T>A (p.Val3077Glu) c.7634T>A (p.Val2545Glu) n.9770T>A | |
6 | g.51748123C>A | CA364420940 | PKHD1 | c.9493G>T (p.Val3165Leu) c.9364G>T (p.Val3122Leu) c.9355G>T (p.Val3119Leu) c.8851G>T (p.Val2951Leu) c.8782G>T (p.Val2928Leu) c.3568G>T (p.Val1190Leu) c.9418G>T (p.Val3140Leu) c.9298G>T (p.Val3100Leu) c.9229G>T (p.Val3077Leu) c.7633G>T (p.Val2545Leu) n.9769G>T | |
6 | g.51748123C= | CA1628502577 | PKHD1 | c.9493G= (p.Val3165=) c.9364G= (p.Val3122=) c.9355G= (p.Val3119=) c.8851G= (p.Val2951=) c.8782G= (p.Val2928=) c.3568G= (p.Val1190=) c.9418G= (p.Val3140=) c.9298G= (p.Val3100=) c.9229G= (p.Val3077=) c.7633G= (p.Val2545=) n.9769G= | |
6 | g.51748123C>G | CA364420941 | PKHD1 | c.9493G>C (p.Val3165Leu) c.9364G>C (p.Val3122Leu) c.9355G>C (p.Val3119Leu) c.8851G>C (p.Val2951Leu) c.8782G>C (p.Val2928Leu) c.3568G>C (p.Val1190Leu) c.9418G>C (p.Val3140Leu) c.9298G>C (p.Val3100Leu) c.9229G>C (p.Val3077Leu) c.7633G>C (p.Val2545Leu) n.9769G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748123C>T | CA3851383 | PKHD1 | c.9493G>A (p.Val3165Met) c.9364G>A (p.Val3122Met) c.9355G>A (p.Val3119Met) c.8851G>A (p.Val2951Met) c.8782G>A (p.Val2928Met) c.3568G>A (p.Val1190Met) c.9418G>A (p.Val3140Met) c.9298G>A (p.Val3100Met) c.9229G>A (p.Val3077Met) c.7633G>A (p.Val2545Met) n.9769G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748124G>A | CA149537 | PKHD1 | c.9492C>T (p.Ser3164=) c.9363C>T (p.Ser3121=) c.9354C>T (p.Ser3118=) c.8850C>T (p.Ser2950=) c.8781C>T (p.Ser2927=) c.3567C>T (p.Ser1189=) c.9417C>T (p.Ser3139=) c.9297C>T (p.Ser3099=) c.9228C>T (p.Ser3076=) c.7632C>T (p.Ser2544=) n.9768C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748124G>C | CA364420942 | PKHD1 | c.9492C>G (p.Ser3164Arg) c.9363C>G (p.Ser3121Arg) c.9354C>G (p.Ser3118Arg) c.8850C>G (p.Ser2950Arg) c.8781C>G (p.Ser2927Arg) c.3567C>G (p.Ser1189Arg) c.9417C>G (p.Ser3139Arg) c.9297C>G (p.Ser3099Arg) c.9228C>G (p.Ser3076Arg) c.7632C>G (p.Ser2544Arg) n.9768C>G | |
6 | g.51748124G= | CA1628502578 | PKHD1 | c.9492C= (p.Ser3164=) c.9363C= (p.Ser3121=) c.9354C= (p.Ser3118=) c.8850C= (p.Ser2950=) c.8781C= (p.Ser2927=) c.3567C= (p.Ser1189=) c.9417C= (p.Ser3139=) c.9297C= (p.Ser3099=) c.9228C= (p.Ser3076=) c.7632C= (p.Ser2544=) n.9768C= | |
6 | g.51748124G>T | CA364420943 | PKHD1 | c.9492C>A (p.Ser3164Arg) c.9363C>A (p.Ser3121Arg) c.9354C>A (p.Ser3118Arg) c.8850C>A (p.Ser2950Arg) c.8781C>A (p.Ser2927Arg) c.3567C>A (p.Ser1189Arg) c.9417C>A (p.Ser3139Arg) c.9297C>A (p.Ser3099Arg) c.9228C>A (p.Ser3076Arg) c.7632C>A (p.Ser2544Arg) n.9768C>A | |
6 | g.51748125C>A | CA364420944 | PKHD1 | c.9491G>T (p.Ser3164Ile) c.9362G>T (p.Ser3121Ile) c.9353G>T (p.Ser3118Ile) c.8849G>T (p.Ser2950Ile) c.8780G>T (p.Ser2927Ile) c.3566G>T (p.Ser1189Ile) c.9416G>T (p.Ser3139Ile) c.9296G>T (p.Ser3099Ile) c.9227G>T (p.Ser3076Ile) c.7631G>T (p.Ser2544Ile) n.9767G>T | |
6 | g.51748125C>G | CA364420945 | PKHD1 | c.9491G>C (p.Ser3164Thr) c.9362G>C (p.Ser3121Thr) c.9353G>C (p.Ser3118Thr) c.8849G>C (p.Ser2950Thr) c.8780G>C (p.Ser2927Thr) c.3566G>C (p.Ser1189Thr) c.9416G>C (p.Ser3139Thr) c.9296G>C (p.Ser3099Thr) c.9227G>C (p.Ser3076Thr) c.7631G>C (p.Ser2544Thr) n.9767G>C | |
6 | g.51748125C>T | CA364420946 | PKHD1 | c.9491G>A (p.Ser3164Asn) c.9362G>A (p.Ser3121Asn) c.9353G>A (p.Ser3118Asn) c.8849G>A (p.Ser2950Asn) c.8780G>A (p.Ser2927Asn) c.3566G>A (p.Ser1189Asn) c.9416G>A (p.Ser3139Asn) c.9296G>A (p.Ser3099Asn) c.9227G>A (p.Ser3076Asn) c.7631G>A (p.Ser2544Asn) n.9767G>A | |
6 | g.51748126T>A | CA364420947 | PKHD1 | c.9490A>T (p.Ser3164Cys) c.9361A>T (p.Ser3121Cys) c.9352A>T (p.Ser3118Cys) c.8848A>T (p.Ser2950Cys) c.8779A>T (p.Ser2927Cys) c.3565A>T (p.Ser1189Cys) c.9415A>T (p.Ser3139Cys) c.9295A>T (p.Ser3099Cys) c.9226A>T (p.Ser3076Cys) c.7630A>T (p.Ser2544Cys) n.9766A>T | |
6 | g.51748126T>C | CA364420948 | PKHD1 | c.9490A>G (p.Ser3164Gly) c.9361A>G (p.Ser3121Gly) c.9352A>G (p.Ser3118Gly) c.8848A>G (p.Ser2950Gly) c.8779A>G (p.Ser2927Gly) c.3565A>G (p.Ser1189Gly) c.9415A>G (p.Ser3139Gly) c.9295A>G (p.Ser3099Gly) c.9226A>G (p.Ser3076Gly) c.7630A>G (p.Ser2544Gly) n.9766A>G | |
6 | g.51748126T>G | CA364420949 | PKHD1 | c.9490A>C (p.Ser3164Arg) c.9361A>C (p.Ser3121Arg) c.9352A>C (p.Ser3118Arg) c.8848A>C (p.Ser2950Arg) c.8779A>C (p.Ser2927Arg) c.3565A>C (p.Ser1189Arg) c.9415A>C (p.Ser3139Arg) c.9295A>C (p.Ser3099Arg) c.9226A>C (p.Ser3076Arg) c.7630A>C (p.Ser2544Arg) n.9766A>C | |
6 | g.51748127G>A | CA450613478 | PKHD1 | c.9489C>T (p.Asn3163=) c.9360C>T (p.Asn3120=) c.9351C>T (p.Asn3117=) c.8847C>T (p.Asn2949=) c.8778C>T (p.Asn2926=) c.3564C>T (p.Asn1188=) c.9414C>T (p.Asn3138=) c.9294C>T (p.Asn3098=) c.9225C>T (p.Asn3075=) c.7629C>T (p.Asn2543=) n.9765C>T | |
6 | g.51748127G>C | CA364420950 | PKHD1 | c.9489C>G (p.Asn3163Lys) c.9360C>G (p.Asn3120Lys) c.9351C>G (p.Asn3117Lys) c.8847C>G (p.Asn2949Lys) c.8778C>G (p.Asn2926Lys) c.3564C>G (p.Asn1188Lys) c.9414C>G (p.Asn3138Lys) c.9294C>G (p.Asn3098Lys) c.9225C>G (p.Asn3075Lys) c.7629C>G (p.Asn2543Lys) n.9765C>G | |
6 | g.51748127G>T | CA364420951 | PKHD1 | c.9489C>A (p.Asn3163Lys) c.9360C>A (p.Asn3120Lys) c.9351C>A (p.Asn3117Lys) c.8847C>A (p.Asn2949Lys) c.8778C>A (p.Asn2926Lys) c.3564C>A (p.Asn1188Lys) c.9414C>A (p.Asn3138Lys) c.9294C>A (p.Asn3098Lys) c.9225C>A (p.Asn3075Lys) c.7629C>A (p.Asn2543Lys) n.9765C>A | COSMIC COSMIC |
6 | g.51748128T>A | CA364420952 | PKHD1 | c.9488A>T (p.Asn3163Ile) c.9359A>T (p.Asn3120Ile) c.9350A>T (p.Asn3117Ile) c.8846A>T (p.Asn2949Ile) c.8777A>T (p.Asn2926Ile) c.3563A>T (p.Asn1188Ile) c.9413A>T (p.Asn3138Ile) c.9293A>T (p.Asn3098Ile) c.9224A>T (p.Asn3075Ile) c.7628A>T (p.Asn2543Ile) n.9764A>T | |
6 | g.51748128T>C | CA364420954 | PKHD1 | c.9488A>G (p.Asn3163Ser) c.9359A>G (p.Asn3120Ser) c.9350A>G (p.Asn3117Ser) c.8846A>G (p.Asn2949Ser) c.8777A>G (p.Asn2926Ser) c.3563A>G (p.Asn1188Ser) c.9413A>G (p.Asn3138Ser) c.9293A>G (p.Asn3098Ser) c.9224A>G (p.Asn3075Ser) c.7628A>G (p.Asn2543Ser) n.9764A>G | |
6 | g.51748128T>G | CA364420953 | PKHD1 | c.9488A>C (p.Asn3163Thr) c.9359A>C (p.Asn3120Thr) c.9350A>C (p.Asn3117Thr) c.8846A>C (p.Asn2949Thr) c.8777A>C (p.Asn2926Thr) c.3563A>C (p.Asn1188Thr) c.9413A>C (p.Asn3138Thr) c.9293A>C (p.Asn3098Thr) c.9224A>C (p.Asn3075Thr) c.7628A>C (p.Asn2543Thr) n.9764A>C | |
6 | g.51748129T>A | CA138896163 | PKHD1 | c.9487A>T (p.Asn3163Tyr) c.9358A>T (p.Asn3120Tyr) c.9349A>T (p.Asn3117Tyr) c.8845A>T (p.Asn2949Tyr) c.8776A>T (p.Asn2926Tyr) c.3562A>T (p.Asn1188Tyr) c.9412A>T (p.Asn3138Tyr) c.9292A>T (p.Asn3098Tyr) c.9223A>T (p.Asn3075Tyr) c.7627A>T (p.Asn2543Tyr) n.9763A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748129T>C | CA364420955 | PKHD1 | c.9487A>G (p.Asn3163Asp) c.9358A>G (p.Asn3120Asp) c.9349A>G (p.Asn3117Asp) c.8845A>G (p.Asn2949Asp) c.8776A>G (p.Asn2926Asp) c.3562A>G (p.Asn1188Asp) c.9412A>G (p.Asn3138Asp) c.9292A>G (p.Asn3098Asp) c.9223A>G (p.Asn3075Asp) c.7627A>G (p.Asn2543Asp) n.9763A>G | |
6 | g.51748129T>G | CA364420956 | PKHD1 | c.9487A>C (p.Asn3163His) c.9358A>C (p.Asn3120His) c.9349A>C (p.Asn3117His) c.8845A>C (p.Asn2949His) c.8776A>C (p.Asn2926His) c.3562A>C (p.Asn1188His) c.9412A>C (p.Asn3138His) c.9292A>C (p.Asn3098His) c.9223A>C (p.Asn3075His) c.7627A>C (p.Asn2543His) n.9763A>C | |
6 | g.51748129T= | CA1628502583 | PKHD1 | c.9487A= (p.Asn3163=) c.9358A= (p.Asn3120=) c.9349A= (p.Asn3117=) c.8845A= (p.Asn2949=) c.8776A= (p.Asn2926=) c.3562A= (p.Asn1188=) c.9412A= (p.Asn3138=) c.9292A= (p.Asn3098=) c.9223A= (p.Asn3075=) c.7627A= (p.Asn2543=) n.9763A= | |
6 | g.51748130C>A | CA364420957 | PKHD1 | c.9486G>T (p.Glu3162Asp) c.9357G>T (p.Glu3119Asp) c.9348G>T (p.Glu3116Asp) c.8844G>T (p.Glu2948Asp) c.8775G>T (p.Glu2925Asp) c.3561G>T (p.Glu1187Asp) c.9411G>T (p.Glu3137Asp) c.9291G>T (p.Glu3097Asp) c.9222G>T (p.Glu3074Asp) c.7626G>T (p.Glu2542Asp) n.9762G>T | COSMIC COSMIC |
6 | g.51748130C>G | CA364420958 | PKHD1 | c.9486G>C (p.Glu3162Asp) c.9357G>C (p.Glu3119Asp) c.9348G>C (p.Glu3116Asp) c.8844G>C (p.Glu2948Asp) c.8775G>C (p.Glu2925Asp) c.3561G>C (p.Glu1187Asp) c.9411G>C (p.Glu3137Asp) c.9291G>C (p.Glu3097Asp) c.9222G>C (p.Glu3074Asp) c.7626G>C (p.Glu2542Asp) n.9762G>C | |
6 | g.51748130C>T | CA450613480 | PKHD1 | c.9486G>A (p.Glu3162=) c.9357G>A (p.Glu3119=) c.9348G>A (p.Glu3116=) c.8844G>A (p.Glu2948=) c.8775G>A (p.Glu2925=) c.3561G>A (p.Glu1187=) c.9411G>A (p.Glu3137=) c.9291G>A (p.Glu3097=) c.9222G>A (p.Glu3074=) c.7626G>A (p.Glu2542=) n.9762G>A | |
6 | g.51748131T>A | CA364420959 | PKHD1 | c.9485A>T (p.Glu3162Val) c.9356A>T (p.Glu3119Val) c.9347A>T (p.Glu3116Val) c.8843A>T (p.Glu2948Val) c.8774A>T (p.Glu2925Val) c.3560A>T (p.Glu1187Val) c.9410A>T (p.Glu3137Val) c.9290A>T (p.Glu3097Val) c.9221A>T (p.Glu3074Val) c.7625A>T (p.Glu2542Val) n.9761A>T | |
6 | g.51748131T>C | CA138896165 | PKHD1 | c.9485A>G (p.Glu3162Gly) c.9356A>G (p.Glu3119Gly) c.9347A>G (p.Glu3116Gly) c.8843A>G (p.Glu2948Gly) c.8774A>G (p.Glu2925Gly) c.3560A>G (p.Glu1187Gly) c.9410A>G (p.Glu3137Gly) c.9290A>G (p.Glu3097Gly) c.9221A>G (p.Glu3074Gly) c.7625A>G (p.Glu2542Gly) n.9761A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748131T>G | CA364420960 | PKHD1 | c.9485A>C (p.Glu3162Ala) c.9356A>C (p.Glu3119Ala) c.9347A>C (p.Glu3116Ala) c.8843A>C (p.Glu2948Ala) c.8774A>C (p.Glu2925Ala) c.3560A>C (p.Glu1187Ala) c.9410A>C (p.Glu3137Ala) c.9290A>C (p.Glu3097Ala) c.9221A>C (p.Glu3074Ala) c.7625A>C (p.Glu2542Ala) n.9761A>C | |
6 | g.51748131T= | CA1628502587 | PKHD1 | c.9485A= (p.Glu3162=) c.9356A= (p.Glu3119=) c.9347A= (p.Glu3116=) c.8843A= (p.Glu2948=) c.8774A= (p.Glu2925=) c.3560A= (p.Glu1187=) c.9410A= (p.Glu3137=) c.9290A= (p.Glu3097=) c.9221A= (p.Glu3074=) c.7625A= (p.Glu2542=) n.9761A= | |
6 | g.51748132C>A | CA364420961 | PKHD1 | c.9484G>T (p.Glu3162Ter) c.9355G>T (p.Glu3119Ter) c.9346G>T (p.Glu3116Ter) c.8842G>T (p.Glu2948Ter) c.8773G>T (p.Glu2925Ter) c.3559G>T (p.Glu1187Ter) c.9409G>T (p.Glu3137Ter) c.9289G>T (p.Glu3097Ter) c.9220G>T (p.Glu3074Ter) c.7624G>T (p.Glu2542Ter) n.9760G>T | |
6 | g.51748132C>G | CA364420962 | PKHD1 | c.9484G>C (p.Glu3162Gln) c.9355G>C (p.Glu3119Gln) c.9346G>C (p.Glu3116Gln) c.8842G>C (p.Glu2948Gln) c.8773G>C (p.Glu2925Gln) c.3559G>C (p.Glu1187Gln) c.9409G>C (p.Glu3137Gln) c.9289G>C (p.Glu3097Gln) c.9220G>C (p.Glu3074Gln) c.7624G>C (p.Glu2542Gln) n.9760G>C | |
6 | g.51748132C>T | CA364420963 | PKHD1 | c.9484G>A (p.Glu3162Lys) c.9355G>A (p.Glu3119Lys) c.9346G>A (p.Glu3116Lys) c.8842G>A (p.Glu2948Lys) c.8773G>A (p.Glu2925Lys) c.3559G>A (p.Glu1187Lys) c.9409G>A (p.Glu3137Lys) c.9289G>A (p.Glu3097Lys) c.9220G>A (p.Glu3074Lys) c.7624G>A (p.Glu2542Lys) n.9760G>A |