| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51747827C>A | CA450613430 | PKHD1 | c.9789G>T (p.Val3263=) c.9660G>T (p.Val3220=) c.9651G>T (p.Val3217=) c.9147G>T (p.Val3049=) c.9078G>T (p.Val3026=) c.3864G>T (p.Val1288=) c.9714G>T (p.Val3238=) c.9594G>T (p.Val3198=) c.9525G>T (p.Val3175=) c.7929G>T (p.Val2643=) n.10065G>T | |
| 6 | g.51747827C>G | CA450613431 | PKHD1 | c.9789G>C (p.Val3263=) c.9660G>C (p.Val3220=) c.9651G>C (p.Val3217=) c.9147G>C (p.Val3049=) c.9078G>C (p.Val3026=) c.3864G>C (p.Val1288=) c.9714G>C (p.Val3238=) c.9594G>C (p.Val3198=) c.9525G>C (p.Val3175=) c.7929G>C (p.Val2643=) n.10065G>C | |
| 6 | g.51747827C>T | CA450613432 | PKHD1 | c.9789G>A (p.Val3263=) c.9660G>A (p.Val3220=) c.9651G>A (p.Val3217=) c.9147G>A (p.Val3049=) c.9078G>A (p.Val3026=) c.3864G>A (p.Val1288=) c.9714G>A (p.Val3238=) c.9594G>A (p.Val3198=) c.9525G>A (p.Val3175=) c.7929G>A (p.Val2643=) n.10065G>A | ClinVar dbSNP |
| 6 | g.51747828A= | CA1628501864 | PKHD1 | c.9788T= (p.Val3263=) c.9659T= (p.Val3220=) c.9650T= (p.Val3217=) c.9146T= (p.Val3049=) c.9077T= (p.Val3026=) c.3863T= (p.Val1288=) c.9713T= (p.Val3238=) c.9593T= (p.Val3198=) c.9524T= (p.Val3175=) c.7928T= (p.Val2643=) n.10064T= | |
| 6 | g.51747828A>C | CA364420115 | PKHD1 | c.9788T>G (p.Val3263Gly) c.9659T>G (p.Val3220Gly) c.9650T>G (p.Val3217Gly) c.9146T>G (p.Val3049Gly) c.9077T>G (p.Val3026Gly) c.3863T>G (p.Val1288Gly) c.9713T>G (p.Val3238Gly) c.9593T>G (p.Val3198Gly) c.9524T>G (p.Val3175Gly) c.7928T>G (p.Val2643Gly) n.10064T>G | |
| 6 | g.51747828A>G | CA234563 | PKHD1 | c.9788T>C (p.Val3263Ala) c.9659T>C (p.Val3220Ala) c.9650T>C (p.Val3217Ala) c.9146T>C (p.Val3049Ala) c.9077T>C (p.Val3026Ala) c.3863T>C (p.Val1288Ala) c.9713T>C (p.Val3238Ala) c.9593T>C (p.Val3198Ala) c.9524T>C (p.Val3175Ala) c.7928T>C (p.Val2643Ala) n.10064T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51747828A>T | CA364420116 | PKHD1 | c.9788T>A (p.Val3263Glu) c.9659T>A (p.Val3220Glu) c.9650T>A (p.Val3217Glu) c.9146T>A (p.Val3049Glu) c.9077T>A (p.Val3026Glu) c.3863T>A (p.Val1288Glu) c.9713T>A (p.Val3238Glu) c.9593T>A (p.Val3198Glu) c.9524T>A (p.Val3175Glu) c.7928T>A (p.Val2643Glu) n.10064T>A | |
| 6 | g.51747829C>A | CA364420121 | PKHD1 | c.9787G>T (p.Val3263Leu) c.9658G>T (p.Val3220Leu) c.9649G>T (p.Val3217Leu) c.9145G>T (p.Val3049Leu) c.9076G>T (p.Val3026Leu) c.3862G>T (p.Val1288Leu) c.9712G>T (p.Val3238Leu) c.9592G>T (p.Val3198Leu) c.9523G>T (p.Val3175Leu) c.7927G>T (p.Val2643Leu) n.10063G>T | COSMIC COSMIC |
| 6 | g.51747829C>G | CA364420119 | PKHD1 | c.9787G>C (p.Val3263Leu) c.9658G>C (p.Val3220Leu) c.9649G>C (p.Val3217Leu) c.9145G>C (p.Val3049Leu) c.9076G>C (p.Val3026Leu) c.3862G>C (p.Val1288Leu) c.9712G>C (p.Val3238Leu) c.9592G>C (p.Val3198Leu) c.9523G>C (p.Val3175Leu) c.7927G>C (p.Val2643Leu) n.10063G>C | |
| 6 | g.51747829C>T | CA364420120 | PKHD1 | c.9787G>A (p.Val3263Met) c.9658G>A (p.Val3220Met) c.9649G>A (p.Val3217Met) c.9145G>A (p.Val3049Met) c.9076G>A (p.Val3026Met) c.3862G>A (p.Val1288Met) c.9712G>A (p.Val3238Met) c.9592G>A (p.Val3198Met) c.9523G>A (p.Val3175Met) c.7927G>A (p.Val2643Met) n.10063G>A | |
| 6 | g.51747830T>A | CA364420124 | PKHD1 | c.9786A>T (p.Lys3262Asn) c.9657A>T (p.Lys3219Asn) c.9648A>T (p.Lys3216Asn) c.9144A>T (p.Lys3048Asn) c.9075A>T (p.Lys3025Asn) c.3861A>T (p.Lys1287Asn) c.9711A>T (p.Lys3237Asn) c.9591A>T (p.Lys3197Asn) c.9522A>T (p.Lys3174Asn) c.7926A>T (p.Lys2642Asn) n.10062A>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51747830T>C | CA450613435 | PKHD1 | c.9786A>G (p.Lys3262=) c.9657A>G (p.Lys3219=) c.9648A>G (p.Lys3216=) c.9144A>G (p.Lys3048=) c.9075A>G (p.Lys3025=) c.3861A>G (p.Lys1287=) c.9711A>G (p.Lys3237=) c.9591A>G (p.Lys3197=) c.9522A>G (p.Lys3174=) c.7926A>G (p.Lys2642=) n.10062A>G | |
| 6 | g.51747830T>G | CA364420125 | PKHD1 | c.9786A>C (p.Lys3262Asn) c.9657A>C (p.Lys3219Asn) c.9648A>C (p.Lys3216Asn) c.9144A>C (p.Lys3048Asn) c.9075A>C (p.Lys3025Asn) c.3861A>C (p.Lys1287Asn) c.9711A>C (p.Lys3237Asn) c.9591A>C (p.Lys3197Asn) c.9522A>C (p.Lys3174Asn) c.7926A>C (p.Lys2642Asn) n.10062A>C | |
| 6 | g.51747830T= | CA1628501868 | PKHD1 | c.9786A= (p.Lys3262=) c.9657A= (p.Lys3219=) c.9648A= (p.Lys3216=) c.9144A= (p.Lys3048=) c.9075A= (p.Lys3025=) c.3861A= (p.Lys1287=) c.9711A= (p.Lys3237=) c.9591A= (p.Lys3197=) c.9522A= (p.Lys3174=) c.7926A= (p.Lys2642=) n.10062A= | |
| 6 | g.51747831T>A | CA364420128 | PKHD1 | c.9785A>T (p.Lys3262Ile) c.9656A>T (p.Lys3219Ile) c.9647A>T (p.Lys3216Ile) c.9143A>T (p.Lys3048Ile) c.9074A>T (p.Lys3025Ile) c.3860A>T (p.Lys1287Ile) c.9710A>T (p.Lys3237Ile) c.9590A>T (p.Lys3197Ile) c.9521A>T (p.Lys3174Ile) c.7925A>T (p.Lys2642Ile) n.10061A>T | |
| 6 | g.51747831T>C | CA364420130 | PKHD1 | c.9785A>G (p.Lys3262Arg) c.9656A>G (p.Lys3219Arg) c.9647A>G (p.Lys3216Arg) c.9143A>G (p.Lys3048Arg) c.9074A>G (p.Lys3025Arg) c.3860A>G (p.Lys1287Arg) c.9710A>G (p.Lys3237Arg) c.9590A>G (p.Lys3197Arg) c.9521A>G (p.Lys3174Arg) c.7925A>G (p.Lys2642Arg) n.10061A>G | |
| 6 | g.51747831T>G | CA364420131 | PKHD1 | c.9785A>C (p.Lys3262Thr) c.9656A>C (p.Lys3219Thr) c.9647A>C (p.Lys3216Thr) c.9143A>C (p.Lys3048Thr) c.9074A>C (p.Lys3025Thr) c.3860A>C (p.Lys1287Thr) c.9710A>C (p.Lys3237Thr) c.9590A>C (p.Lys3197Thr) c.9521A>C (p.Lys3174Thr) c.7925A>C (p.Lys2642Thr) n.10061A>C | |
| 6 | g.51747832T>A | CA364420134 | PKHD1 | c.9784A>T (p.Lys3262Ter) c.9655A>T (p.Lys3219Ter) c.9646A>T (p.Lys3216Ter) c.9142A>T (p.Lys3048Ter) c.9073A>T (p.Lys3025Ter) c.3859A>T (p.Lys1287Ter) c.9709A>T (p.Lys3237Ter) c.9589A>T (p.Lys3197Ter) c.9520A>T (p.Lys3174Ter) c.7924A>T (p.Lys2642Ter) n.10060A>T | |
| 6 | g.51747832T>C | CA364420137 | PKHD1 | c.9784A>G (p.Lys3262Glu) c.9655A>G (p.Lys3219Glu) c.9646A>G (p.Lys3216Glu) c.9142A>G (p.Lys3048Glu) c.9073A>G (p.Lys3025Glu) c.3859A>G (p.Lys1287Glu) c.9709A>G (p.Lys3237Glu) c.9589A>G (p.Lys3197Glu) c.9520A>G (p.Lys3174Glu) c.7924A>G (p.Lys2642Glu) n.10060A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51747832T>G | CA364420136 | PKHD1 | c.9784A>C (p.Lys3262Gln) c.9655A>C (p.Lys3219Gln) c.9646A>C (p.Lys3216Gln) c.9142A>C (p.Lys3048Gln) c.9073A>C (p.Lys3025Gln) c.3859A>C (p.Lys1287Gln) c.9709A>C (p.Lys3237Gln) c.9589A>C (p.Lys3197Gln) c.9520A>C (p.Lys3174Gln) c.7924A>C (p.Lys2642Gln) n.10060A>C | |
| 6 | g.51747832T= | CA1628501870 | PKHD1 | c.9784A= (p.Lys3262=) c.9655A= (p.Lys3219=) c.9646A= (p.Lys3216=) c.9142A= (p.Lys3048=) c.9073A= (p.Lys3025=) c.3859A= (p.Lys1287=) c.9709A= (p.Lys3237=) c.9589A= (p.Lys3197=) c.9520A= (p.Lys3174=) c.7924A= (p.Lys2642=) n.10060A= | |
| 6 | g.51747833del | CA2578644757 | PKHD1 | c.9783del (p.His3261GlnfsTer3) c.9654del (p.His3218GlnfsTer3) c.9645del (p.His3215GlnfsTer3) c.9141del (p.His3047GlnfsTer3) c.9072del (p.His3024GlnfsTer3) c.3858del (p.His1286GlnfsTer3) c.9708del (p.His3236GlnfsTer3) c.9588del (p.His3196GlnfsTer3) c.9519del (p.His3173GlnfsTer3) c.7923del (p.His2641GlnfsTer3) n.10059del | |
| 6 | g.51747833G>A | CA450613439 | PKHD1 | c.9783C>T (p.His3261=) c.9654C>T (p.His3218=) c.9645C>T (p.His3215=) c.9141C>T (p.His3047=) c.9072C>T (p.His3024=) c.3858C>T (p.His1286=) c.9708C>T (p.His3236=) c.9588C>T (p.His3196=) c.9519C>T (p.His3173=) c.7923C>T (p.His2641=) n.10059C>T | ClinVar |
| 6 | g.51747833G>C | CA364420138 | PKHD1 | c.9783C>G (p.His3261Gln) c.9654C>G (p.His3218Gln) c.9645C>G (p.His3215Gln) c.9141C>G (p.His3047Gln) c.9072C>G (p.His3024Gln) c.3858C>G (p.His1286Gln) c.9708C>G (p.His3236Gln) c.9588C>G (p.His3196Gln) c.9519C>G (p.His3173Gln) c.7923C>G (p.His2641Gln) n.10059C>G | gnomAD v4 |
| 6 | g.51747833G>T | CA364420139 | PKHD1 | c.9783C>A (p.His3261Gln) c.9654C>A (p.His3218Gln) c.9645C>A (p.His3215Gln) c.9141C>A (p.His3047Gln) c.9072C>A (p.His3024Gln) c.3858C>A (p.His1286Gln) c.9708C>A (p.His3236Gln) c.9588C>A (p.His3196Gln) c.9519C>A (p.His3173Gln) c.7923C>A (p.His2641Gln) n.10059C>A | |
| 6 | g.51747834T>A | CA364420141 | PKHD1 | c.9782A>T (p.His3261Leu) c.9653A>T (p.His3218Leu) c.9644A>T (p.His3215Leu) c.9140A>T (p.His3047Leu) c.9071A>T (p.His3024Leu) c.3857A>T (p.His1286Leu) c.9707A>T (p.His3236Leu) c.9587A>T (p.His3196Leu) c.9518A>T (p.His3173Leu) c.7922A>T (p.His2641Leu) n.10058A>T | |
| 6 | g.51747834T>C | CA3851339 | PKHD1 | c.9782A>G (p.His3261Arg) c.9653A>G (p.His3218Arg) c.9644A>G (p.His3215Arg) c.9140A>G (p.His3047Arg) c.9071A>G (p.His3024Arg) c.3857A>G (p.His1286Arg) c.9707A>G (p.His3236Arg) c.9587A>G (p.His3196Arg) c.9518A>G (p.His3173Arg) c.7922A>G (p.His2641Arg) n.10058A>G | dbSNP ExAC gnomAD v2 |
| 6 | g.51747834T>G | CA364420142 | PKHD1 | c.9782A>C (p.His3261Pro) c.9653A>C (p.His3218Pro) c.9644A>C (p.His3215Pro) c.9140A>C (p.His3047Pro) c.9071A>C (p.His3024Pro) c.3857A>C (p.His1286Pro) c.9707A>C (p.His3236Pro) c.9587A>C (p.His3196Pro) c.9518A>C (p.His3173Pro) c.7922A>C (p.His2641Pro) n.10058A>C | |
| 6 | g.51747834T= | CA1628501874 | PKHD1 | c.9782A= (p.His3261=) c.9653A= (p.His3218=) c.9644A= (p.His3215=) c.9140A= (p.His3047=) c.9071A= (p.His3024=) c.3857A= (p.His1286=) c.9707A= (p.His3236=) c.9587A= (p.His3196=) c.9518A= (p.His3173=) c.7922A= (p.His2641=) n.10058A= | |
| 6 | g.51747835G>A | CA364420143 | PKHD1 | c.9781C>T (p.His3261Tyr) c.9652C>T (p.His3218Tyr) c.9643C>T (p.His3215Tyr) c.9139C>T (p.His3047Tyr) c.9070C>T (p.His3024Tyr) c.3856C>T (p.His1286Tyr) c.9706C>T (p.His3236Tyr) c.9586C>T (p.His3196Tyr) c.9517C>T (p.His3173Tyr) c.7921C>T (p.His2641Tyr) n.10057C>T | gnomAD v4 |
| 6 | g.51747835G>C | CA364420144 | PKHD1 | c.9781C>G (p.His3261Asp) c.9652C>G (p.His3218Asp) c.9643C>G (p.His3215Asp) c.9139C>G (p.His3047Asp) c.9070C>G (p.His3024Asp) c.3856C>G (p.His1286Asp) c.9706C>G (p.His3236Asp) c.9586C>G (p.His3196Asp) c.9517C>G (p.His3173Asp) c.7921C>G (p.His2641Asp) n.10057C>G | |
| 6 | g.51747835G>T | CA364420146 | PKHD1 | c.9781C>A (p.His3261Asn) c.9652C>A (p.His3218Asn) c.9643C>A (p.His3215Asn) c.9139C>A (p.His3047Asn) c.9070C>A (p.His3024Asn) c.3856C>A (p.His1286Asn) c.9706C>A (p.His3236Asn) c.9586C>A (p.His3196Asn) c.9517C>A (p.His3173Asn) c.7921C>A (p.His2641Asn) n.10057C>A | |
| 6 | g.51747836C>A | CA364420148 | PKHD1 | c.9780G>T (p.Trp3260Cys) c.9651G>T (p.Trp3217Cys) c.9642G>T (p.Trp3214Cys) c.9138G>T (p.Trp3046Cys) c.9069G>T (p.Trp3023Cys) c.3855G>T (p.Trp1285Cys) c.9705G>T (p.Trp3235Cys) c.9585G>T (p.Trp3195Cys) c.9516G>T (p.Trp3172Cys) c.7920G>T (p.Trp2640Cys) n.10056G>T | |
| 6 | g.51747836C>G | CA364420149 | PKHD1 | c.9780G>C (p.Trp3260Cys) c.9651G>C (p.Trp3217Cys) c.9642G>C (p.Trp3214Cys) c.9138G>C (p.Trp3046Cys) c.9069G>C (p.Trp3023Cys) c.3855G>C (p.Trp1285Cys) c.9705G>C (p.Trp3235Cys) c.9585G>C (p.Trp3195Cys) c.9516G>C (p.Trp3172Cys) c.7920G>C (p.Trp2640Cys) n.10056G>C | |
| 6 | g.51747836C>T | CA364420150 | PKHD1 | c.9780G>A (p.Trp3260Ter) c.9651G>A (p.Trp3217Ter) c.9642G>A (p.Trp3214Ter) c.9138G>A (p.Trp3046Ter) c.9069G>A (p.Trp3023Ter) c.3855G>A (p.Trp1285Ter) c.9705G>A (p.Trp3235Ter) c.9585G>A (p.Trp3195Ter) c.9516G>A (p.Trp3172Ter) c.7920G>A (p.Trp2640Ter) n.10056G>A | ClinVar |
| 6 | g.51747837C>A | CA364420158 | PKHD1 | c.9779G>T (p.Trp3260Leu) c.9650G>T (p.Trp3217Leu) c.9641G>T (p.Trp3214Leu) c.9137G>T (p.Trp3046Leu) c.9068G>T (p.Trp3023Leu) c.3854G>T (p.Trp1285Leu) c.9704G>T (p.Trp3235Leu) c.9584G>T (p.Trp3195Leu) c.9515G>T (p.Trp3172Leu) c.7919G>T (p.Trp2640Leu) n.10055G>T | |
| 6 | g.51747837C>G | CA364420156 | PKHD1 | c.9779G>C (p.Trp3260Ser) c.9650G>C (p.Trp3217Ser) c.9641G>C (p.Trp3214Ser) c.9137G>C (p.Trp3046Ser) c.9068G>C (p.Trp3023Ser) c.3854G>C (p.Trp1285Ser) c.9704G>C (p.Trp3235Ser) c.9584G>C (p.Trp3195Ser) c.9515G>C (p.Trp3172Ser) c.7919G>C (p.Trp2640Ser) n.10055G>C | |
| 6 | g.51747837C>T | CA364420153 | PKHD1 | c.9779G>A (p.Trp3260Ter) c.9650G>A (p.Trp3217Ter) c.9641G>A (p.Trp3214Ter) c.9137G>A (p.Trp3046Ter) c.9068G>A (p.Trp3023Ter) c.3854G>A (p.Trp1285Ter) c.9704G>A (p.Trp3235Ter) c.9584G>A (p.Trp3195Ter) c.9515G>A (p.Trp3172Ter) c.7919G>A (p.Trp2640Ter) n.10055G>A | ClinVar |
| 6 | g.51747838A= | CA1628501875 | PKHD1 | c.9778T= (p.Trp3260=) c.9649T= (p.Trp3217=) c.9640T= (p.Trp3214=) c.9136T= (p.Trp3046=) c.9067T= (p.Trp3023=) c.3853T= (p.Trp1285=) c.9703T= (p.Trp3235=) c.9583T= (p.Trp3195=) c.9514T= (p.Trp3172=) c.7918T= (p.Trp2640=) n.10054T= | |
| 6 | g.51747838A>C | CA364420160 | PKHD1 | c.9778T>G (p.Trp3260Gly) c.9649T>G (p.Trp3217Gly) c.9640T>G (p.Trp3214Gly) c.9136T>G (p.Trp3046Gly) c.9067T>G (p.Trp3023Gly) c.3853T>G (p.Trp1285Gly) c.9703T>G (p.Trp3235Gly) c.9583T>G (p.Trp3195Gly) c.9514T>G (p.Trp3172Gly) c.7918T>G (p.Trp2640Gly) n.10054T>G | dbSNP gnomAD v2 |
| 6 | g.51747838A>G | CA364420163 | PKHD1 | c.9778T>C (p.Trp3260Arg) c.9649T>C (p.Trp3217Arg) c.9640T>C (p.Trp3214Arg) c.9136T>C (p.Trp3046Arg) c.9067T>C (p.Trp3023Arg) c.3853T>C (p.Trp1285Arg) c.9703T>C (p.Trp3235Arg) c.9583T>C (p.Trp3195Arg) c.9514T>C (p.Trp3172Arg) c.7918T>C (p.Trp2640Arg) n.10054T>C | gnomAD v4 |
| 6 | g.51747838A>T | CA364420164 | PKHD1 | c.9778T>A (p.Trp3260Arg) c.9649T>A (p.Trp3217Arg) c.9640T>A (p.Trp3214Arg) c.9136T>A (p.Trp3046Arg) c.9067T>A (p.Trp3023Arg) c.3853T>A (p.Trp1285Arg) c.9703T>A (p.Trp3235Arg) c.9583T>A (p.Trp3195Arg) c.9514T>A (p.Trp3172Arg) c.7918T>A (p.Trp2640Arg) n.10054T>A | |
| 6 | g.51747839T>A | CA450613442 | PKHD1 | c.9777A>T (p.Pro3259=) c.9648A>T (p.Pro3216=) c.9639A>T (p.Pro3213=) c.9135A>T (p.Pro3045=) c.9066A>T (p.Pro3022=) c.3852A>T (p.Pro1284=) c.9702A>T (p.Pro3234=) c.9582A>T (p.Pro3194=) c.9513A>T (p.Pro3171=) c.7917A>T (p.Pro2639=) n.10053A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51747839T>C | CA138895838 | PKHD1 | c.9777A>G (p.Pro3259=) c.9648A>G (p.Pro3216=) c.9639A>G (p.Pro3213=) c.9135A>G (p.Pro3045=) c.9066A>G (p.Pro3022=) c.3852A>G (p.Pro1284=) c.9702A>G (p.Pro3234=) c.9582A>G (p.Pro3194=) c.9513A>G (p.Pro3171=) c.7917A>G (p.Pro2639=) n.10053A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.51747839T>G | CA450613443 | PKHD1 | c.9777A>C (p.Pro3259=) c.9648A>C (p.Pro3216=) c.9639A>C (p.Pro3213=) c.9135A>C (p.Pro3045=) c.9066A>C (p.Pro3022=) c.3852A>C (p.Pro1284=) c.9702A>C (p.Pro3234=) c.9582A>C (p.Pro3194=) c.9513A>C (p.Pro3171=) c.7917A>C (p.Pro2639=) n.10053A>C | |
| 6 | g.51747839T= | CA1628501879 | PKHD1 | c.9777A= (p.Pro3259=) c.9648A= (p.Pro3216=) c.9639A= (p.Pro3213=) c.9135A= (p.Pro3045=) c.9066A= (p.Pro3022=) c.3852A= (p.Pro1284=) c.9702A= (p.Pro3234=) c.9582A= (p.Pro3194=) c.9513A= (p.Pro3171=) c.7917A= (p.Pro2639=) n.10053A= | |
| 6 | g.51747840G>A | CA364420168 | PKHD1 | c.9776C>T (p.Pro3259Leu) c.9647C>T (p.Pro3216Leu) c.9638C>T (p.Pro3213Leu) c.9134C>T (p.Pro3045Leu) c.9065C>T (p.Pro3022Leu) c.3851C>T (p.Pro1284Leu) c.9701C>T (p.Pro3234Leu) c.9581C>T (p.Pro3194Leu) c.9512C>T (p.Pro3171Leu) c.7916C>T (p.Pro2639Leu) n.10052C>T | gnomAD v4 |
| 6 | g.51747840G>C | CA364420169 | PKHD1 | c.9776C>G (p.Pro3259Arg) c.9647C>G (p.Pro3216Arg) c.9638C>G (p.Pro3213Arg) c.9134C>G (p.Pro3045Arg) c.9065C>G (p.Pro3022Arg) c.3851C>G (p.Pro1284Arg) c.9701C>G (p.Pro3234Arg) c.9581C>G (p.Pro3194Arg) c.9512C>G (p.Pro3171Arg) c.7916C>G (p.Pro2639Arg) n.10052C>G | |
| 6 | g.51747840G>T | CA364420171 | PKHD1 | c.9776C>A (p.Pro3259Gln) c.9647C>A (p.Pro3216Gln) c.9638C>A (p.Pro3213Gln) c.9134C>A (p.Pro3045Gln) c.9065C>A (p.Pro3022Gln) c.3851C>A (p.Pro1284Gln) c.9701C>A (p.Pro3234Gln) c.9581C>A (p.Pro3194Gln) c.9512C>A (p.Pro3171Gln) c.7916C>A (p.Pro2639Gln) n.10052C>A | |
| 6 | g.51747841G>A | CA364420177 | PKHD1 | c.9775C>T (p.Pro3259Ser) c.9646C>T (p.Pro3216Ser) c.9637C>T (p.Pro3213Ser) c.9133C>T (p.Pro3045Ser) c.9064C>T (p.Pro3022Ser) c.3850C>T (p.Pro1284Ser) c.9700C>T (p.Pro3234Ser) c.9580C>T (p.Pro3194Ser) c.9511C>T (p.Pro3171Ser) c.7915C>T (p.Pro2639Ser) n.10051C>T | dbSNP gnomAD v4 |