Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51748497T>A | CA364423709 | PKHD1 | c.9119A>T (p.Asp3040Val) c.8990A>T (p.Asp2997Val) c.8981A>T (p.Asp2994Val) c.8477A>T (p.Asp2826Val) c.8408A>T (p.Asp2803Val) c.3194A>T (p.Asp1065Val) c.9044A>T (p.Asp3015Val) c.8924A>T (p.Asp2975Val) c.8855A>T (p.Asp2952Val) c.7259A>T (p.Asp2420Val) n.9395A>T | |
6 | g.51748497T>C | CA364423712 | PKHD1 | c.9119A>G (p.Asp3040Gly) c.8990A>G (p.Asp2997Gly) c.8981A>G (p.Asp2994Gly) c.8477A>G (p.Asp2826Gly) c.8408A>G (p.Asp2803Gly) c.3194A>G (p.Asp1065Gly) c.9044A>G (p.Asp3015Gly) c.8924A>G (p.Asp2975Gly) c.8855A>G (p.Asp2952Gly) c.7259A>G (p.Asp2420Gly) n.9395A>G | |
6 | g.51748497T>G | CA364423716 | PKHD1 | c.9119A>C (p.Asp3040Ala) c.8990A>C (p.Asp2997Ala) c.8981A>C (p.Asp2994Ala) c.8477A>C (p.Asp2826Ala) c.8408A>C (p.Asp2803Ala) c.3194A>C (p.Asp1065Ala) c.9044A>C (p.Asp3015Ala) c.8924A>C (p.Asp2975Ala) c.8855A>C (p.Asp2952Ala) c.7259A>C (p.Asp2420Ala) n.9395A>C | |
6 | g.51748498C>A | CA364423722 | PKHD1 | c.9118G>T (p.Asp3040Tyr) c.8989G>T (p.Asp2997Tyr) c.8980G>T (p.Asp2994Tyr) c.8476G>T (p.Asp2826Tyr) c.8407G>T (p.Asp2803Tyr) c.3193G>T (p.Asp1065Tyr) c.9043G>T (p.Asp3015Tyr) c.8923G>T (p.Asp2975Tyr) c.8854G>T (p.Asp2952Tyr) c.7258G>T (p.Asp2420Tyr) n.9394G>T | |
6 | g.51748498C>G | CA364423725 | PKHD1 | c.9118G>C (p.Asp3040His) c.8989G>C (p.Asp2997His) c.8980G>C (p.Asp2994His) c.8476G>C (p.Asp2826His) c.8407G>C (p.Asp2803His) c.3193G>C (p.Asp1065His) c.9043G>C (p.Asp3015His) c.8923G>C (p.Asp2975His) c.8854G>C (p.Asp2952His) c.7258G>C (p.Asp2420His) n.9394G>C | |
6 | g.51748498C>T | CA364423727 | PKHD1 | c.9118G>A (p.Asp3040Asn) c.8989G>A (p.Asp2997Asn) c.8980G>A (p.Asp2994Asn) c.8476G>A (p.Asp2826Asn) c.8407G>A (p.Asp2803Asn) c.3193G>A (p.Asp1065Asn) c.9043G>A (p.Asp3015Asn) c.8923G>A (p.Asp2975Asn) c.8854G>A (p.Asp2952Asn) c.7258G>A (p.Asp2420Asn) n.9394G>A | |
6 | g.51748499A>C | CA364423728 | PKHD1 | c.9117T>G (p.Asn3039Lys) c.8988T>G (p.Asn2996Lys) c.8979T>G (p.Asn2993Lys) c.8475T>G (p.Asn2825Lys) c.8406T>G (p.Asn2802Lys) c.3192T>G (p.Asn1064Lys) c.9042T>G (p.Asn3014Lys) c.8922T>G (p.Asn2974Lys) c.8853T>G (p.Asn2951Lys) c.7257T>G (p.Asn2419Lys) n.9393T>G | |
6 | g.51748499A>G | CA450613765 | PKHD1 | c.9117T>C (p.Asn3039=) c.8988T>C (p.Asn2996=) c.8979T>C (p.Asn2993=) c.8475T>C (p.Asn2825=) c.8406T>C (p.Asn2802=) c.3192T>C (p.Asn1064=) c.9042T>C (p.Asn3014=) c.8922T>C (p.Asn2974=) c.8853T>C (p.Asn2951=) c.7257T>C (p.Asn2419=) n.9393T>C | |
6 | g.51748499A>T | CA364423729 | PKHD1 | c.9117T>A (p.Asn3039Lys) c.8988T>A (p.Asn2996Lys) c.8979T>A (p.Asn2993Lys) c.8475T>A (p.Asn2825Lys) c.8406T>A (p.Asn2802Lys) c.3192T>A (p.Asn1064Lys) c.9042T>A (p.Asn3014Lys) c.8922T>A (p.Asn2974Lys) c.8853T>A (p.Asn2951Lys) c.7257T>A (p.Asn2419Lys) n.9393T>A | |
6 | g.51748500T>A | CA364423733 | PKHD1 | c.9116A>T (p.Asn3039Ile) c.8987A>T (p.Asn2996Ile) c.8978A>T (p.Asn2993Ile) c.8474A>T (p.Asn2825Ile) c.8405A>T (p.Asn2802Ile) c.3191A>T (p.Asn1064Ile) c.9041A>T (p.Asn3014Ile) c.8921A>T (p.Asn2974Ile) c.8852A>T (p.Asn2951Ile) c.7256A>T (p.Asn2419Ile) n.9392A>T | |
6 | g.51748500T>C | CA364423734 | PKHD1 | c.9116A>G (p.Asn3039Ser) c.8987A>G (p.Asn2996Ser) c.8978A>G (p.Asn2993Ser) c.8474A>G (p.Asn2825Ser) c.8405A>G (p.Asn2802Ser) c.3191A>G (p.Asn1064Ser) c.9041A>G (p.Asn3014Ser) c.8921A>G (p.Asn2974Ser) c.8852A>G (p.Asn2951Ser) c.7256A>G (p.Asn2419Ser) n.9392A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748500T>G | CA364423736 | PKHD1 | c.9116A>C (p.Asn3039Thr) c.8987A>C (p.Asn2996Thr) c.8978A>C (p.Asn2993Thr) c.8474A>C (p.Asn2825Thr) c.8405A>C (p.Asn2802Thr) c.3191A>C (p.Asn1064Thr) c.9041A>C (p.Asn3014Thr) c.8921A>C (p.Asn2974Thr) c.8852A>C (p.Asn2951Thr) c.7256A>C (p.Asn2419Thr) n.9392A>C | |
6 | g.51748500T= | CA1628503578 | PKHD1 | c.9116A= (p.Asn3039=) c.8987A= (p.Asn2996=) c.8978A= (p.Asn2993=) c.8474A= (p.Asn2825=) c.8405A= (p.Asn2802=) c.3191A= (p.Asn1064=) c.9041A= (p.Asn3014=) c.8921A= (p.Asn2974=) c.8852A= (p.Asn2951=) c.7256A= (p.Asn2419=) n.9392A= | |
6 | g.51748501T>A | CA364423742 | PKHD1 | c.9115A>T (p.Asn3039Tyr) c.8986A>T (p.Asn2996Tyr) c.8977A>T (p.Asn2993Tyr) c.8473A>T (p.Asn2825Tyr) c.8404A>T (p.Asn2802Tyr) c.3190A>T (p.Asn1064Tyr) c.9040A>T (p.Asn3014Tyr) c.8920A>T (p.Asn2974Tyr) c.8851A>T (p.Asn2951Tyr) c.7255A>T (p.Asn2419Tyr) n.9391A>T | |
6 | g.51748501T>C | CA3851444 | PKHD1 | c.9115A>G (p.Asn3039Asp) c.8986A>G (p.Asn2996Asp) c.8977A>G (p.Asn2993Asp) c.8473A>G (p.Asn2825Asp) c.8404A>G (p.Asn2802Asp) c.3190A>G (p.Asn1064Asp) c.9040A>G (p.Asn3014Asp) c.8920A>G (p.Asn2974Asp) c.8851A>G (p.Asn2951Asp) c.7255A>G (p.Asn2419Asp) n.9391A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748501T>G | CA364423752 | PKHD1 | c.9115A>C (p.Asn3039His) c.8986A>C (p.Asn2996His) c.8977A>C (p.Asn2993His) c.8473A>C (p.Asn2825His) c.8404A>C (p.Asn2802His) c.3190A>C (p.Asn1064His) c.9040A>C (p.Asn3014His) c.8920A>C (p.Asn2974His) c.8851A>C (p.Asn2951His) c.7255A>C (p.Asn2419His) n.9391A>C | |
6 | g.51748501T= | CA1628503583 | PKHD1 | c.9115A= (p.Asn3039=) c.8986A= (p.Asn2996=) c.8977A= (p.Asn2993=) c.8473A= (p.Asn2825=) c.8404A= (p.Asn2802=) c.3190A= (p.Asn1064=) c.9040A= (p.Asn3014=) c.8920A= (p.Asn2974=) c.8851A= (p.Asn2951=) c.7255A= (p.Asn2419=) n.9391A= | |
6 | g.51748502T>A | CA364423755 | PKHD1 | c.9114A>T (p.Leu3038Phe) c.8985A>T (p.Leu2995Phe) c.8976A>T (p.Leu2992Phe) c.8472A>T (p.Leu2824Phe) c.8403A>T (p.Leu2801Phe) c.3189A>T (p.Leu1063Phe) c.9039A>T (p.Leu3013Phe) c.8919A>T (p.Leu2973Phe) c.8850A>T (p.Leu2950Phe) c.7254A>T (p.Leu2418Phe) n.9390A>T | |
6 | g.51748502T>C | CA450613767 | PKHD1 | c.9114A>G (p.Leu3038=) c.8985A>G (p.Leu2995=) c.8976A>G (p.Leu2992=) c.8472A>G (p.Leu2824=) c.8403A>G (p.Leu2801=) c.3189A>G (p.Leu1063=) c.9039A>G (p.Leu3013=) c.8919A>G (p.Leu2973=) c.8850A>G (p.Leu2950=) c.7254A>G (p.Leu2418=) n.9390A>G | |
6 | g.51748502T>G | CA364423757 | PKHD1 | c.9114A>C (p.Leu3038Phe) c.8985A>C (p.Leu2995Phe) c.8976A>C (p.Leu2992Phe) c.8472A>C (p.Leu2824Phe) c.8403A>C (p.Leu2801Phe) c.3189A>C (p.Leu1063Phe) c.9039A>C (p.Leu3013Phe) c.8919A>C (p.Leu2973Phe) c.8850A>C (p.Leu2950Phe) c.7254A>C (p.Leu2418Phe) n.9390A>C | |
6 | g.51748502_51748503del | CA913110681 | PKHD1 | c.9113_9114del (p.Leu3038Ter) c.8984_8985del (p.Leu2995Ter) c.8975_8976del (p.Leu2992Ter) c.8471_8472del (p.Leu2824Ter) c.8402_8403del (p.Leu2801Ter) c.3188_3189del (p.Leu1063Ter) c.9038_9039del (p.Leu3013Ter) c.8918_8919del (p.Leu2973Ter) c.8849_8850del (p.Leu2950Ter) c.7253_7254del (p.Leu2418Ter) n.9389_9390del | |
6 | g.51748502_51748503delinsTA | CA1628503586 | PKHD1 | c.9113_9114delinsTA (p.Leu3038=) c.8984_8985delinsTA (p.Leu2995=) c.8975_8976delinsTA (p.Leu2992=) c.8471_8472delinsTA (p.Leu2824=) c.8402_8403delinsTA (p.Leu2801=) c.3188_3189delinsTA (p.Leu1063=) c.9038_9039delinsTA (p.Leu3013=) c.8918_8919delinsTA (p.Leu2973=) c.8849_8850delinsTA (p.Leu2950=) c.7253_7254delinsTA (p.Leu2418=) n.9389_9390delinsTA | |
6 | g.51748503A>C | CA364423759 | PKHD1 | c.9113T>G (p.Leu3038Ter) c.8984T>G (p.Leu2995Ter) c.8975T>G (p.Leu2992Ter) c.8471T>G (p.Leu2824Ter) c.8402T>G (p.Leu2801Ter) c.3188T>G (p.Leu1063Ter) c.9038T>G (p.Leu3013Ter) c.8918T>G (p.Leu2973Ter) c.8849T>G (p.Leu2950Ter) c.7253T>G (p.Leu2418Ter) n.9389T>G | |
6 | g.51748503A>G | CA364423762 | PKHD1 | c.9113T>C (p.Leu3038Ser) c.8984T>C (p.Leu2995Ser) c.8975T>C (p.Leu2992Ser) c.8471T>C (p.Leu2824Ser) c.8402T>C (p.Leu2801Ser) c.3188T>C (p.Leu1063Ser) c.9038T>C (p.Leu3013Ser) c.8918T>C (p.Leu2973Ser) c.8849T>C (p.Leu2950Ser) c.7253T>C (p.Leu2418Ser) n.9389T>C | |
6 | g.51748503A>T | CA364423763 | PKHD1 | c.9113T>A (p.Leu3038Ter) c.8984T>A (p.Leu2995Ter) c.8975T>A (p.Leu2992Ter) c.8471T>A (p.Leu2824Ter) c.8402T>A (p.Leu2801Ter) c.3188T>A (p.Leu1063Ter) c.9038T>A (p.Leu3013Ter) c.8918T>A (p.Leu2973Ter) c.8849T>A (p.Leu2950Ter) c.7253T>A (p.Leu2418Ter) n.9389T>A | |
6 | g.51748506del | CA658821796 | PKHD1 | c.9113del (p.Leu3038Ter) c.8984del (p.Leu2995Ter) c.8975del (p.Leu2992Ter) c.8471del (p.Leu2824Ter) c.8402del (p.Leu2801Ter) c.3188del (p.Leu1063Ter) c.9038del (p.Leu3013Ter) c.8918del (p.Leu2973Ter) c.8849del (p.Leu2950Ter) c.7253del (p.Leu2418Ter) n.9389del | ClinVar dbSNP |
6 | g.51748504A>C | CA364423767 | PKHD1 | c.9112T>G (p.Leu3038Val) c.8983T>G (p.Leu2995Val) c.8974T>G (p.Leu2992Val) c.8470T>G (p.Leu2824Val) c.8401T>G (p.Leu2801Val) c.3187T>G (p.Leu1063Val) c.9037T>G (p.Leu3013Val) c.8917T>G (p.Leu2973Val) c.8848T>G (p.Leu2950Val) c.7252T>G (p.Leu2418Val) n.9388T>G | |
6 | g.51748504A>G | CA450613768 | PKHD1 | c.9112T>C (p.Leu3038=) c.8983T>C (p.Leu2995=) c.8974T>C (p.Leu2992=) c.8470T>C (p.Leu2824=) c.8401T>C (p.Leu2801=) c.3187T>C (p.Leu1063=) c.9037T>C (p.Leu3013=) c.8917T>C (p.Leu2973=) c.8848T>C (p.Leu2950=) c.7252T>C (p.Leu2418=) n.9388T>C | ClinVar |
6 | g.51748504A>T | CA364423769 | PKHD1 | c.9112T>A (p.Leu3038Ile) c.8983T>A (p.Leu2995Ile) c.8974T>A (p.Leu2992Ile) c.8470T>A (p.Leu2824Ile) c.8401T>A (p.Leu2801Ile) c.3187T>A (p.Leu1063Ile) c.9037T>A (p.Leu3013Ile) c.8917T>A (p.Leu2973Ile) c.8848T>A (p.Leu2950Ile) c.7252T>A (p.Leu2418Ile) n.9388T>A | |
6 | g.51748505A>C | CA450613769 | PKHD1 | c.9111T>G (p.Leu3037=) c.8982T>G (p.Leu2994=) c.8973T>G (p.Leu2991=) c.8469T>G (p.Leu2823=) c.8400T>G (p.Leu2800=) c.3186T>G (p.Leu1062=) c.9036T>G (p.Leu3012=) c.8916T>G (p.Leu2972=) c.8847T>G (p.Leu2949=) c.7251T>G (p.Leu2417=) n.9387T>G | |
6 | g.51748505A>G | CA450613770 | PKHD1 | c.9111T>C (p.Leu3037=) c.8982T>C (p.Leu2994=) c.8973T>C (p.Leu2991=) c.8469T>C (p.Leu2823=) c.8400T>C (p.Leu2800=) c.3186T>C (p.Leu1062=) c.9036T>C (p.Leu3012=) c.8916T>C (p.Leu2972=) c.8847T>C (p.Leu2949=) c.7251T>C (p.Leu2417=) n.9387T>C | |
6 | g.51748505A>T | CA450613771 | PKHD1 | c.9111T>A (p.Leu3037=) c.8982T>A (p.Leu2994=) c.8973T>A (p.Leu2991=) c.8469T>A (p.Leu2823=) c.8400T>A (p.Leu2800=) c.3186T>A (p.Leu1062=) c.9036T>A (p.Leu3012=) c.8916T>A (p.Leu2972=) c.8847T>A (p.Leu2949=) c.7251T>A (p.Leu2417=) n.9387T>A | |
6 | g.51748506A>C | CA364423775 | PKHD1 | c.9110T>G (p.Leu3037Arg) c.8981T>G (p.Leu2994Arg) c.8972T>G (p.Leu2991Arg) c.8468T>G (p.Leu2823Arg) c.8399T>G (p.Leu2800Arg) c.3185T>G (p.Leu1062Arg) c.9035T>G (p.Leu3012Arg) c.8915T>G (p.Leu2972Arg) c.8846T>G (p.Leu2949Arg) c.7250T>G (p.Leu2417Arg) n.9386T>G | |
6 | g.51748506A>G | CA364423773 | PKHD1 | c.9110T>C (p.Leu3037Pro) c.8981T>C (p.Leu2994Pro) c.8972T>C (p.Leu2991Pro) c.8468T>C (p.Leu2823Pro) c.8399T>C (p.Leu2800Pro) c.3185T>C (p.Leu1062Pro) c.9035T>C (p.Leu3012Pro) c.8915T>C (p.Leu2972Pro) c.8846T>C (p.Leu2949Pro) c.7250T>C (p.Leu2417Pro) n.9386T>C | gnomAD v4 |
6 | g.51748506A>T | CA364423774 | PKHD1 | c.9110T>A (p.Leu3037His) c.8981T>A (p.Leu2994His) c.8972T>A (p.Leu2991His) c.8468T>A (p.Leu2823His) c.8399T>A (p.Leu2800His) c.3185T>A (p.Leu1062His) c.9035T>A (p.Leu3012His) c.8915T>A (p.Leu2972His) c.8846T>A (p.Leu2949His) c.7250T>A (p.Leu2417His) n.9386T>A | |
6 | g.51748507G>A | CA3851445 | PKHD1 | c.9109C>T (p.Leu3037Phe) c.8980C>T (p.Leu2994Phe) c.8971C>T (p.Leu2991Phe) c.8467C>T (p.Leu2823Phe) c.8398C>T (p.Leu2800Phe) c.3184C>T (p.Leu1062Phe) c.9034C>T (p.Leu3012Phe) c.8914C>T (p.Leu2972Phe) c.8845C>T (p.Leu2949Phe) c.7249C>T (p.Leu2417Phe) n.9385C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748507G>C | CA364423778 | PKHD1 | c.9109C>G (p.Leu3037Val) c.8980C>G (p.Leu2994Val) c.8971C>G (p.Leu2991Val) c.8467C>G (p.Leu2823Val) c.8398C>G (p.Leu2800Val) c.3184C>G (p.Leu1062Val) c.9034C>G (p.Leu3012Val) c.8914C>G (p.Leu2972Val) c.8845C>G (p.Leu2949Val) c.7249C>G (p.Leu2417Val) n.9385C>G | |
6 | g.51748507G= | CA1628503596 | PKHD1 | c.9109C= (p.Leu3037=) c.8980C= (p.Leu2994=) c.8971C= (p.Leu2991=) c.8467C= (p.Leu2823=) c.8398C= (p.Leu2800=) c.3184C= (p.Leu1062=) c.9034C= (p.Leu3012=) c.8914C= (p.Leu2972=) c.8845C= (p.Leu2949=) c.7249C= (p.Leu2417=) n.9385C= | |
6 | g.51748507G>T | CA364423781 | PKHD1 | c.9109C>A (p.Leu3037Ile) c.8980C>A (p.Leu2994Ile) c.8971C>A (p.Leu2991Ile) c.8467C>A (p.Leu2823Ile) c.8398C>A (p.Leu2800Ile) c.3184C>A (p.Leu1062Ile) c.9034C>A (p.Leu3012Ile) c.8914C>A (p.Leu2972Ile) c.8845C>A (p.Leu2949Ile) c.7249C>A (p.Leu2417Ile) n.9385C>A | |
6 | g.51748508T>A | CA450613773 | PKHD1 | c.9108A>T (p.Val3036=) c.8979A>T (p.Val2993=) c.8970A>T (p.Val2990=) c.8466A>T (p.Val2822=) c.8397A>T (p.Val2799=) c.3183A>T (p.Val1061=) c.9033A>T (p.Val3011=) c.8913A>T (p.Val2971=) c.8844A>T (p.Val2948=) c.7248A>T (p.Val2416=) n.9384A>T | |
6 | g.51748508T>C | CA450613774 | PKHD1 | c.9108A>G (p.Val3036=) c.8979A>G (p.Val2993=) c.8970A>G (p.Val2990=) c.8466A>G (p.Val2822=) c.8397A>G (p.Val2799=) c.3183A>G (p.Val1061=) c.9033A>G (p.Val3011=) c.8913A>G (p.Val2971=) c.8844A>G (p.Val2948=) c.7248A>G (p.Val2416=) n.9384A>G | |
6 | g.51748508T>G | CA450613775 | PKHD1 | c.9108A>C (p.Val3036=) c.8979A>C (p.Val2993=) c.8970A>C (p.Val2990=) c.8466A>C (p.Val2822=) c.8397A>C (p.Val2799=) c.3183A>C (p.Val1061=) c.9033A>C (p.Val3011=) c.8913A>C (p.Val2971=) c.8844A>C (p.Val2948=) c.7248A>C (p.Val2416=) n.9384A>C | |
6 | g.51748509A= | CA1628503607 | PKHD1 | c.9107T= (p.Val3036=) c.8978T= (p.Val2993=) c.8969T= (p.Val2990=) c.8465T= (p.Val2822=) c.8396T= (p.Val2799=) c.3182T= (p.Val1061=) c.9032T= (p.Val3011=) c.8912T= (p.Val2971=) c.8843T= (p.Val2948=) c.7247T= (p.Val2416=) n.9383T= | |
6 | g.51748509A>C | CA138896669 | PKHD1 | c.9107T>G (p.Val3036Gly) c.8978T>G (p.Val2993Gly) c.8969T>G (p.Val2990Gly) c.8465T>G (p.Val2822Gly) c.8396T>G (p.Val2799Gly) c.3182T>G (p.Val1061Gly) c.9032T>G (p.Val3011Gly) c.8912T>G (p.Val2971Gly) c.8843T>G (p.Val2948Gly) c.7247T>G (p.Val2416Gly) n.9383T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748509A>G | CA364423789 | PKHD1 | c.9107T>C (p.Val3036Ala) c.8978T>C (p.Val2993Ala) c.8969T>C (p.Val2990Ala) c.8465T>C (p.Val2822Ala) c.8396T>C (p.Val2799Ala) c.3182T>C (p.Val1061Ala) c.9032T>C (p.Val3011Ala) c.8912T>C (p.Val2971Ala) c.8843T>C (p.Val2948Ala) c.7247T>C (p.Val2416Ala) n.9383T>C | |
6 | g.51748509A>T | CA364423791 | PKHD1 | c.9107T>A (p.Val3036Glu) c.8978T>A (p.Val2993Glu) c.8969T>A (p.Val2990Glu) c.8465T>A (p.Val2822Glu) c.8396T>A (p.Val2799Glu) c.3182T>A (p.Val1061Glu) c.9032T>A (p.Val3011Glu) c.8912T>A (p.Val2971Glu) c.8843T>A (p.Val2948Glu) c.7247T>A (p.Val2416Glu) n.9383T>A | gnomAD v4 |
6 | g.51748510C>A | CA364423794 | PKHD1 | c.9106G>T (p.Val3036Leu) c.8977G>T (p.Val2993Leu) c.8968G>T (p.Val2990Leu) c.8464G>T (p.Val2822Leu) c.8395G>T (p.Val2799Leu) c.3181G>T (p.Val1061Leu) c.9031G>T (p.Val3011Leu) c.8911G>T (p.Val2971Leu) c.8842G>T (p.Val2948Leu) c.7246G>T (p.Val2416Leu) n.9382G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748510C= | CA1628503613 | PKHD1 | c.9106G= (p.Val3036=) c.8977G= (p.Val2993=) c.8968G= (p.Val2990=) c.8464G= (p.Val2822=) c.8395G= (p.Val2799=) c.3181G= (p.Val1061=) c.9031G= (p.Val3011=) c.8911G= (p.Val2971=) c.8842G= (p.Val2948=) c.7246G= (p.Val2416=) n.9382G= | |
6 | g.51748510C>G | CA364423797 | PKHD1 | c.9106G>C (p.Val3036Leu) c.8977G>C (p.Val2993Leu) c.8968G>C (p.Val2990Leu) c.8464G>C (p.Val2822Leu) c.8395G>C (p.Val2799Leu) c.3181G>C (p.Val1061Leu) c.9031G>C (p.Val3011Leu) c.8911G>C (p.Val2971Leu) c.8842G>C (p.Val2948Leu) c.7246G>C (p.Val2416Leu) n.9382G>C | |
6 | g.51748510C>T | CA3851446 | PKHD1 | c.9106G>A (p.Val3036Ile) c.8977G>A (p.Val2993Ile) c.8968G>A (p.Val2990Ile) c.8464G>A (p.Val2822Ile) c.8395G>A (p.Val2799Ile) c.3181G>A (p.Val1061Ile) c.9031G>A (p.Val3011Ile) c.8911G>A (p.Val2971Ile) c.8842G>A (p.Val2948Ile) c.7246G>A (p.Val2416Ile) n.9382G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.51748511T>A | CA450613781 | PKHD1 | c.9105A>T (p.Gly3035=) c.8976A>T (p.Gly2992=) c.8967A>T (p.Gly2989=) c.8463A>T (p.Gly2821=) c.8394A>T (p.Gly2798=) c.3180A>T (p.Gly1060=) c.9030A>T (p.Gly3010=) c.8910A>T (p.Gly2970=) c.8841A>T (p.Gly2947=) c.7245A>T (p.Gly2415=) n.9381A>T | |
6 | g.51748511T>C | CA450613780 | PKHD1 | c.9105A>G (p.Gly3035=) c.8976A>G (p.Gly2992=) c.8967A>G (p.Gly2989=) c.8463A>G (p.Gly2821=) c.8394A>G (p.Gly2798=) c.3180A>G (p.Gly1060=) c.9030A>G (p.Gly3010=) c.8910A>G (p.Gly2970=) c.8841A>G (p.Gly2947=) c.7245A>G (p.Gly2415=) n.9381A>G | gnomAD v4 |
6 | g.51748511T>G | CA450613779 | PKHD1 | c.9105A>C (p.Gly3035=) c.8976A>C (p.Gly2992=) c.8967A>C (p.Gly2989=) c.8463A>C (p.Gly2821=) c.8394A>C (p.Gly2798=) c.3180A>C (p.Gly1060=) c.9030A>C (p.Gly3010=) c.8910A>C (p.Gly2970=) c.8841A>C (p.Gly2947=) c.7245A>C (p.Gly2415=) n.9381A>C | gnomAD v4 |
6 | g.51748511_51748512insGATC | CA2565140181 | PKHD1 | c.9104_9105insGATC (p.Val3036IlefsTer6) c.8975_8976insGATC (p.Val2993IlefsTer6) c.8966_8967insGATC (p.Val2990IlefsTer6) c.8462_8463insGATC (p.Val2822IlefsTer6) c.8393_8394insGATC (p.Val2799IlefsTer6) c.3179_3180insGATC (p.Val1061IlefsTer6) c.9029_9030insGATC (p.Val3011IlefsTer6) c.8909_8910insGATC (p.Val2971IlefsTer6) c.8840_8841insGATC (p.Val2948IlefsTer6) c.7244_7245insGATC (p.Val2416IlefsTer6) n.9380_9381insGATC | |
6 | g.51748512C>A | CA364423801 | PKHD1 | c.9104G>T (p.Gly3035Val) c.8975G>T (p.Gly2992Val) c.8966G>T (p.Gly2989Val) c.8462G>T (p.Gly2821Val) c.8393G>T (p.Gly2798Val) c.3179G>T (p.Gly1060Val) c.9029G>T (p.Gly3010Val) c.8909G>T (p.Gly2970Val) c.8840G>T (p.Gly2947Val) c.7244G>T (p.Gly2415Val) n.9380G>T | dbSNP gnomAD v4 |
6 | g.51748512C= | CA1628503618 | PKHD1 | c.9104G= (p.Gly3035=) c.8975G= (p.Gly2992=) c.8966G= (p.Gly2989=) c.8462G= (p.Gly2821=) c.8393G= (p.Gly2798=) c.3179G= (p.Gly1060=) c.9029G= (p.Gly3010=) c.8909G= (p.Gly2970=) c.8840G= (p.Gly2947=) c.7244G= (p.Gly2415=) n.9380G= | |
6 | g.51748512C>G | CA364423803 | PKHD1 | c.9104G>C (p.Gly3035Ala) c.8975G>C (p.Gly2992Ala) c.8966G>C (p.Gly2989Ala) c.8462G>C (p.Gly2821Ala) c.8393G>C (p.Gly2798Ala) c.3179G>C (p.Gly1060Ala) c.9029G>C (p.Gly3010Ala) c.8909G>C (p.Gly2970Ala) c.8840G>C (p.Gly2947Ala) c.7244G>C (p.Gly2415Ala) n.9380G>C | |
6 | g.51748512C>T | CA364423809 | PKHD1 | c.9104G>A (p.Gly3035Glu) c.8975G>A (p.Gly2992Glu) c.8966G>A (p.Gly2989Glu) c.8462G>A (p.Gly2821Glu) c.8393G>A (p.Gly2798Glu) c.3179G>A (p.Gly1060Glu) c.9029G>A (p.Gly3010Glu) c.8909G>A (p.Gly2970Glu) c.8840G>A (p.Gly2947Glu) c.7244G>A (p.Gly2415Glu) n.9380G>A | gnomAD v4 |
6 | g.51748513del | CA2695206433 | PKHD1 | c.9104del (p.Gly3035GlufsTer4) c.8975del (p.Gly2992GlufsTer4) c.8966del (p.Gly2989GlufsTer4) c.8462del (p.Gly2821GlufsTer4) c.8393del (p.Gly2798GlufsTer4) c.3179del (p.Gly1060GlufsTer4) c.9029del (p.Gly3010GlufsTer4) c.8909del (p.Gly2970GlufsTer4) c.8840del (p.Gly2947GlufsTer4) c.7244del (p.Gly2415GlufsTer4) n.9380del | |
6 | g.51748513C>A | CA364423813 | PKHD1 | c.9103G>T (p.Gly3035Ter) c.8974G>T (p.Gly2992Ter) c.8965G>T (p.Gly2989Ter) c.8461G>T (p.Gly2821Ter) c.8392G>T (p.Gly2798Ter) c.3178G>T (p.Gly1060Ter) c.9028G>T (p.Gly3010Ter) c.8908G>T (p.Gly2970Ter) c.8839G>T (p.Gly2947Ter) c.7243G>T (p.Gly2415Ter) n.9379G>T | dbSNP gnomAD v4 |
6 | g.51748513C= | CA1628503625 | PKHD1 | c.9103G= (p.Gly3035=) c.8974G= (p.Gly2992=) c.8965G= (p.Gly2989=) c.8461G= (p.Gly2821=) c.8392G= (p.Gly2798=) c.3178G= (p.Gly1060=) c.9028G= (p.Gly3010=) c.8908G= (p.Gly2970=) c.8839G= (p.Gly2947=) c.7243G= (p.Gly2415=) n.9379G= | |
6 | g.51748513C>G | CA364423816 | PKHD1 | c.9103G>C (p.Gly3035Arg) c.8974G>C (p.Gly2992Arg) c.8965G>C (p.Gly2989Arg) c.8461G>C (p.Gly2821Arg) c.8392G>C (p.Gly2798Arg) c.3178G>C (p.Gly1060Arg) c.9028G>C (p.Gly3010Arg) c.8908G>C (p.Gly2970Arg) c.8839G>C (p.Gly2947Arg) c.7243G>C (p.Gly2415Arg) n.9379G>C | |
6 | g.51748513C>T | CA364423811 | PKHD1 | c.9103G>A (p.Gly3035Arg) c.8974G>A (p.Gly2992Arg) c.8965G>A (p.Gly2989Arg) c.8461G>A (p.Gly2821Arg) c.8392G>A (p.Gly2798Arg) c.3178G>A (p.Gly1060Arg) c.9028G>A (p.Gly3010Arg) c.8908G>A (p.Gly2970Arg) c.8839G>A (p.Gly2947Arg) c.7243G>A (p.Gly2415Arg) n.9379G>A | gnomAD v4 |
6 | g.51748514A>C | CA364423819 | PKHD1 | c.9102T>G (p.His3034Gln) c.8973T>G (p.His2991Gln) c.8964T>G (p.His2988Gln) c.8460T>G (p.His2820Gln) c.8391T>G (p.His2797Gln) c.3177T>G (p.His1059Gln) c.9027T>G (p.His3009Gln) c.8907T>G (p.His2969Gln) c.8838T>G (p.His2946Gln) c.7242T>G (p.His2414Gln) n.9378T>G | |
6 | g.51748514A>G | CA450613783 | PKHD1 | c.9102T>C (p.His3034=) c.8973T>C (p.His2991=) c.8964T>C (p.His2988=) c.8460T>C (p.His2820=) c.8391T>C (p.His2797=) c.3177T>C (p.His1059=) c.9027T>C (p.His3009=) c.8907T>C (p.His2969=) c.8838T>C (p.His2946=) c.7242T>C (p.His2414=) n.9378T>C | |
6 | g.51748514A>T | CA364423824 | PKHD1 | c.9102T>A (p.His3034Gln) c.8973T>A (p.His2991Gln) c.8964T>A (p.His2988Gln) c.8460T>A (p.His2820Gln) c.8391T>A (p.His2797Gln) c.3177T>A (p.His1059Gln) c.9027T>A (p.His3009Gln) c.8907T>A (p.His2969Gln) c.8838T>A (p.His2946Gln) c.7242T>A (p.His2414Gln) n.9378T>A | |
6 | g.51748515T>A | CA364423827 | PKHD1 | c.9101A>T (p.His3034Leu) c.8972A>T (p.His2991Leu) c.8963A>T (p.His2988Leu) c.8459A>T (p.His2820Leu) c.8390A>T (p.His2797Leu) c.3176A>T (p.His1059Leu) c.9026A>T (p.His3009Leu) c.8906A>T (p.His2969Leu) c.8837A>T (p.His2946Leu) c.7241A>T (p.His2414Leu) n.9377A>T | |
6 | g.51748515T>C | CA364423829 | PKHD1 | c.9101A>G (p.His3034Arg) c.8972A>G (p.His2991Arg) c.8963A>G (p.His2988Arg) c.8459A>G (p.His2820Arg) c.8390A>G (p.His2797Arg) c.3176A>G (p.His1059Arg) c.9026A>G (p.His3009Arg) c.8906A>G (p.His2969Arg) c.8837A>G (p.His2946Arg) c.7241A>G (p.His2414Arg) n.9377A>G | |
6 | g.51748515T>G | CA364423832 | PKHD1 | c.9101A>C (p.His3034Pro) c.8972A>C (p.His2991Pro) c.8963A>C (p.His2988Pro) c.8459A>C (p.His2820Pro) c.8390A>C (p.His2797Pro) c.3176A>C (p.His1059Pro) c.9026A>C (p.His3009Pro) c.8906A>C (p.His2969Pro) c.8837A>C (p.His2946Pro) c.7241A>C (p.His2414Pro) n.9377A>C | |
6 | g.51748516G>A | CA364423835 | PKHD1 | c.9100C>T (p.His3034Tyr) c.8971C>T (p.His2991Tyr) c.8962C>T (p.His2988Tyr) c.8458C>T (p.His2820Tyr) c.8389C>T (p.His2797Tyr) c.3175C>T (p.His1059Tyr) c.9025C>T (p.His3009Tyr) c.8905C>T (p.His2969Tyr) c.8836C>T (p.His2946Tyr) c.7240C>T (p.His2414Tyr) n.9376C>T | |
6 | g.51748516G>C | CA364423837 | PKHD1 | c.9100C>G (p.His3034Asp) c.8971C>G (p.His2991Asp) c.8962C>G (p.His2988Asp) c.8458C>G (p.His2820Asp) c.8389C>G (p.His2797Asp) c.3175C>G (p.His1059Asp) c.9025C>G (p.His3009Asp) c.8905C>G (p.His2969Asp) c.8836C>G (p.His2946Asp) c.7240C>G (p.His2414Asp) n.9376C>G | |
6 | g.51748516G>T | CA364423840 | PKHD1 | c.9100C>A (p.His3034Asn) c.8971C>A (p.His2991Asn) c.8962C>A (p.His2988Asn) c.8458C>A (p.His2820Asn) c.8389C>A (p.His2797Asn) c.3175C>A (p.His1059Asn) c.9025C>A (p.His3009Asn) c.8905C>A (p.His2969Asn) c.8836C>A (p.His2946Asn) c.7240C>A (p.His2414Asn) n.9376C>A | COSMIC COSMIC |
6 | g.51748517A>C | CA364423841 | PKHD1 | c.9099T>G (p.Ser3033Arg) c.8970T>G (p.Ser2990Arg) c.8961T>G (p.Ser2987Arg) c.8457T>G (p.Ser2819Arg) c.8388T>G (p.Ser2796Arg) c.3174T>G (p.Ser1058Arg) c.9024T>G (p.Ser3008Arg) c.8904T>G (p.Ser2968Arg) c.8835T>G (p.Ser2945Arg) c.7239T>G (p.Ser2413Arg) n.9375T>G | |
6 | g.51748517A>G | CA450613787 | PKHD1 | c.9099T>C (p.Ser3033=) c.8970T>C (p.Ser2990=) c.8961T>C (p.Ser2987=) c.8457T>C (p.Ser2819=) c.8388T>C (p.Ser2796=) c.3174T>C (p.Ser1058=) c.9024T>C (p.Ser3008=) c.8904T>C (p.Ser2968=) c.8835T>C (p.Ser2945=) c.7239T>C (p.Ser2413=) n.9375T>C | |
6 | g.51748517A>T | CA364423844 | PKHD1 | c.9099T>A (p.Ser3033Arg) c.8970T>A (p.Ser2990Arg) c.8961T>A (p.Ser2987Arg) c.8457T>A (p.Ser2819Arg) c.8388T>A (p.Ser2796Arg) c.3174T>A (p.Ser1058Arg) c.9024T>A (p.Ser3008Arg) c.8904T>A (p.Ser2968Arg) c.8835T>A (p.Ser2945Arg) c.7239T>A (p.Ser2413Arg) n.9375T>A | |
6 | g.51748518C>A | CA364423847 | PKHD1 | c.9098G>T (p.Ser3033Ile) c.8969G>T (p.Ser2990Ile) c.8960G>T (p.Ser2987Ile) c.8456G>T (p.Ser2819Ile) c.8387G>T (p.Ser2796Ile) c.3173G>T (p.Ser1058Ile) c.9023G>T (p.Ser3008Ile) c.8903G>T (p.Ser2968Ile) c.8834G>T (p.Ser2945Ile) c.7238G>T (p.Ser2413Ile) n.9374G>T | |
6 | g.51748518C>G | CA364423849 | PKHD1 | c.9098G>C (p.Ser3033Thr) c.8969G>C (p.Ser2990Thr) c.8960G>C (p.Ser2987Thr) c.8456G>C (p.Ser2819Thr) c.8387G>C (p.Ser2796Thr) c.3173G>C (p.Ser1058Thr) c.9023G>C (p.Ser3008Thr) c.8903G>C (p.Ser2968Thr) c.8834G>C (p.Ser2945Thr) c.7238G>C (p.Ser2413Thr) n.9374G>C | |
6 | g.51748518C>T | CA364423852 | PKHD1 | c.9098G>A (p.Ser3033Asn) c.8969G>A (p.Ser2990Asn) c.8960G>A (p.Ser2987Asn) c.8456G>A (p.Ser2819Asn) c.8387G>A (p.Ser2796Asn) c.3173G>A (p.Ser1058Asn) c.9023G>A (p.Ser3008Asn) c.8903G>A (p.Ser2968Asn) c.8834G>A (p.Ser2945Asn) c.7238G>A (p.Ser2413Asn) n.9374G>A | dbSNP |
6 | g.51748519T>A | CA364423861 | PKHD1 | c.9097A>T (p.Ser3033Cys) c.8968A>T (p.Ser2990Cys) c.8959A>T (p.Ser2987Cys) c.8455A>T (p.Ser2819Cys) c.8386A>T (p.Ser2796Cys) c.3172A>T (p.Ser1058Cys) c.9022A>T (p.Ser3008Cys) c.8902A>T (p.Ser2968Cys) c.8833A>T (p.Ser2945Cys) c.7237A>T (p.Ser2413Cys) n.9373A>T | |
6 | g.51748519T>C | CA3851447 | PKHD1 | c.9097A>G (p.Ser3033Gly) c.8968A>G (p.Ser2990Gly) c.8959A>G (p.Ser2987Gly) c.8455A>G (p.Ser2819Gly) c.8386A>G (p.Ser2796Gly) c.3172A>G (p.Ser1058Gly) c.9022A>G (p.Ser3008Gly) c.8902A>G (p.Ser2968Gly) c.8833A>G (p.Ser2945Gly) c.7237A>G (p.Ser2413Gly) n.9373A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748519T>G | CA364423856 | PKHD1 | c.9097A>C (p.Ser3033Arg) c.8968A>C (p.Ser2990Arg) c.8959A>C (p.Ser2987Arg) c.8455A>C (p.Ser2819Arg) c.8386A>C (p.Ser2796Arg) c.3172A>C (p.Ser1058Arg) c.9022A>C (p.Ser3008Arg) c.8902A>C (p.Ser2968Arg) c.8833A>C (p.Ser2945Arg) c.7237A>C (p.Ser2413Arg) n.9373A>C | |
6 | g.51748519T= | CA1628503629 | PKHD1 | c.9097A= (p.Ser3033=) c.8968A= (p.Ser2990=) c.8959A= (p.Ser2987=) c.8455A= (p.Ser2819=) c.8386A= (p.Ser2796=) c.3172A= (p.Ser1058=) c.9022A= (p.Ser3008=) c.8902A= (p.Ser2968=) c.8833A= (p.Ser2945=) c.7237A= (p.Ser2413=) n.9373A= | |
6 | g.51748520G>A | CA450613790 | PKHD1 | c.9096C>T (p.Ala3032=) c.8967C>T (p.Ala2989=) c.8958C>T (p.Ala2986=) c.8454C>T (p.Ala2818=) c.8385C>T (p.Ala2795=) c.3171C>T (p.Ala1057=) c.9021C>T (p.Ala3007=) c.8901C>T (p.Ala2967=) c.8832C>T (p.Ala2944=) c.7236C>T (p.Ala2412=) n.9372C>T | ClinVar |
6 | g.51748520G>C | CA450613791 | PKHD1 | c.9096C>G (p.Ala3032=) c.8967C>G (p.Ala2989=) c.8958C>G (p.Ala2986=) c.8454C>G (p.Ala2818=) c.8385C>G (p.Ala2795=) c.3171C>G (p.Ala1057=) c.9021C>G (p.Ala3007=) c.8901C>G (p.Ala2967=) c.8832C>G (p.Ala2944=) c.7236C>G (p.Ala2412=) n.9372C>G | |
6 | g.51748520G>T | CA450613792 | PKHD1 | c.9096C>A (p.Ala3032=) c.8967C>A (p.Ala2989=) c.8958C>A (p.Ala2986=) c.8454C>A (p.Ala2818=) c.8385C>A (p.Ala2795=) c.3171C>A (p.Ala1057=) c.9021C>A (p.Ala3007=) c.8901C>A (p.Ala2967=) c.8832C>A (p.Ala2944=) c.7236C>A (p.Ala2412=) n.9372C>A | ClinVar |
6 | g.51748521G>A | CA364423865 | PKHD1 | c.9095C>T (p.Ala3032Val) c.8966C>T (p.Ala2989Val) c.8957C>T (p.Ala2986Val) c.8453C>T (p.Ala2818Val) c.8384C>T (p.Ala2795Val) c.3170C>T (p.Ala1057Val) c.9020C>T (p.Ala3007Val) c.8900C>T (p.Ala2967Val) c.8831C>T (p.Ala2944Val) c.7235C>T (p.Ala2412Val) n.9371C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748521G>C | CA364423868 | PKHD1 | c.9095C>G (p.Ala3032Gly) c.8966C>G (p.Ala2989Gly) c.8957C>G (p.Ala2986Gly) c.8453C>G (p.Ala2818Gly) c.8384C>G (p.Ala2795Gly) c.3170C>G (p.Ala1057Gly) c.9020C>G (p.Ala3007Gly) c.8900C>G (p.Ala2967Gly) c.8831C>G (p.Ala2944Gly) c.7235C>G (p.Ala2412Gly) n.9371C>G | |
6 | g.51748521G= | CA1628503636 | PKHD1 | c.9095C= (p.Ala3032=) c.8966C= (p.Ala2989=) c.8957C= (p.Ala2986=) c.8453C= (p.Ala2818=) c.8384C= (p.Ala2795=) c.3170C= (p.Ala1057=) c.9020C= (p.Ala3007=) c.8900C= (p.Ala2967=) c.8831C= (p.Ala2944=) c.7235C= (p.Ala2412=) n.9371C= | |
6 | g.51748521G>T | CA364423870 | PKHD1 | c.9095C>A (p.Ala3032Asp) c.8966C>A (p.Ala2989Asp) c.8957C>A (p.Ala2986Asp) c.8453C>A (p.Ala2818Asp) c.8384C>A (p.Ala2795Asp) c.3170C>A (p.Ala1057Asp) c.9020C>A (p.Ala3007Asp) c.8900C>A (p.Ala2967Asp) c.8831C>A (p.Ala2944Asp) c.7235C>A (p.Ala2412Asp) n.9371C>A | ClinVar dbSNP |
6 | g.51748522C>A | CA364423872 | PKHD1 | c.9094G>T (p.Ala3032Ser) c.8965G>T (p.Ala2989Ser) c.8956G>T (p.Ala2986Ser) c.8452G>T (p.Ala2818Ser) c.8383G>T (p.Ala2795Ser) c.3169G>T (p.Ala1057Ser) c.9019G>T (p.Ala3007Ser) c.8899G>T (p.Ala2967Ser) c.8830G>T (p.Ala2944Ser) c.7234G>T (p.Ala2412Ser) n.9370G>T | COSMIC COSMIC |
6 | g.51748522C= | CA1628503642 | PKHD1 | c.9094G= (p.Ala3032=) c.8965G= (p.Ala2989=) c.8956G= (p.Ala2986=) c.8452G= (p.Ala2818=) c.8383G= (p.Ala2795=) c.3169G= (p.Ala1057=) c.9019G= (p.Ala3007=) c.8899G= (p.Ala2967=) c.8830G= (p.Ala2944=) c.7234G= (p.Ala2412=) n.9370G= | |
6 | g.51748522C>G | CA364423874 | PKHD1 | c.9094G>C (p.Ala3032Pro) c.8965G>C (p.Ala2989Pro) c.8956G>C (p.Ala2986Pro) c.8452G>C (p.Ala2818Pro) c.8383G>C (p.Ala2795Pro) c.3169G>C (p.Ala1057Pro) c.9019G>C (p.Ala3007Pro) c.8899G>C (p.Ala2967Pro) c.8830G>C (p.Ala2944Pro) c.7234G>C (p.Ala2412Pro) n.9370G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748522C>T | CA364423877 | PKHD1 | c.9094G>A (p.Ala3032Thr) c.8965G>A (p.Ala2989Thr) c.8956G>A (p.Ala2986Thr) c.8452G>A (p.Ala2818Thr) c.8383G>A (p.Ala2795Thr) c.3169G>A (p.Ala1057Thr) c.9019G>A (p.Ala3007Thr) c.8899G>A (p.Ala2967Thr) c.8830G>A (p.Ala2944Thr) c.7234G>A (p.Ala2412Thr) n.9370G>A | |
6 | g.51748523A>C | CA450613794 | PKHD1 | c.9093T>G (p.Ala3031=) c.8964T>G (p.Ala2988=) c.8955T>G (p.Ala2985=) c.8451T>G (p.Ala2817=) c.8382T>G (p.Ala2794=) c.3168T>G (p.Ala1056=) c.9018T>G (p.Ala3006=) c.8898T>G (p.Ala2966=) c.8829T>G (p.Ala2943=) c.7233T>G (p.Ala2411=) n.9369T>G | |
6 | g.51748523A>G | CA450613795 | PKHD1 | c.9093T>C (p.Ala3031=) c.8964T>C (p.Ala2988=) c.8955T>C (p.Ala2985=) c.8451T>C (p.Ala2817=) c.8382T>C (p.Ala2794=) c.3168T>C (p.Ala1056=) c.9018T>C (p.Ala3006=) c.8898T>C (p.Ala2966=) c.8829T>C (p.Ala2943=) c.7233T>C (p.Ala2411=) n.9369T>C | |
6 | g.51748523A>T | CA450613796 | PKHD1 | c.9093T>A (p.Ala3031=) c.8964T>A (p.Ala2988=) c.8955T>A (p.Ala2985=) c.8451T>A (p.Ala2817=) c.8382T>A (p.Ala2794=) c.3168T>A (p.Ala1056=) c.9018T>A (p.Ala3006=) c.8898T>A (p.Ala2966=) c.8829T>A (p.Ala2943=) c.7233T>A (p.Ala2411=) n.9369T>A | |
6 | g.51748524G>A | CA364423881 | PKHD1 | c.9092C>T (p.Ala3031Val) c.8963C>T (p.Ala2988Val) c.8954C>T (p.Ala2985Val) c.8450C>T (p.Ala2817Val) c.8381C>T (p.Ala2794Val) c.3167C>T (p.Ala1056Val) c.9017C>T (p.Ala3006Val) c.8897C>T (p.Ala2966Val) c.8828C>T (p.Ala2943Val) c.7232C>T (p.Ala2411Val) n.9368C>T | |
6 | g.51748524G>C | CA364423883 | PKHD1 | c.9092C>G (p.Ala3031Gly) c.8963C>G (p.Ala2988Gly) c.8954C>G (p.Ala2985Gly) c.8450C>G (p.Ala2817Gly) c.8381C>G (p.Ala2794Gly) c.3167C>G (p.Ala1056Gly) c.9017C>G (p.Ala3006Gly) c.8897C>G (p.Ala2966Gly) c.8828C>G (p.Ala2943Gly) c.7232C>G (p.Ala2411Gly) n.9368C>G | |
6 | g.51748524G>T | CA364423886 | PKHD1 | c.9092C>A (p.Ala3031Asp) c.8963C>A (p.Ala2988Asp) c.8954C>A (p.Ala2985Asp) c.8450C>A (p.Ala2817Asp) c.8381C>A (p.Ala2794Asp) c.3167C>A (p.Ala1056Asp) c.9017C>A (p.Ala3006Asp) c.8897C>A (p.Ala2966Asp) c.8828C>A (p.Ala2943Asp) c.7232C>A (p.Ala2411Asp) n.9368C>A | |
6 | g.51748525C>A | CA364423891 | PKHD1 | c.9091G>T (p.Ala3031Ser) c.8962G>T (p.Ala2988Ser) c.8953G>T (p.Ala2985Ser) c.8449G>T (p.Ala2817Ser) c.8380G>T (p.Ala2794Ser) c.3166G>T (p.Ala1056Ser) c.9016G>T (p.Ala3006Ser) c.8896G>T (p.Ala2966Ser) c.8827G>T (p.Ala2943Ser) c.7231G>T (p.Ala2411Ser) n.9367G>T | |
6 | g.51748525C= | CA1628503649 | PKHD1 | c.9091G= (p.Ala3031=) c.8962G= (p.Ala2988=) c.8953G= (p.Ala2985=) c.8449G= (p.Ala2817=) c.8380G= (p.Ala2794=) c.3166G= (p.Ala1056=) c.9016G= (p.Ala3006=) c.8896G= (p.Ala2966=) c.8827G= (p.Ala2943=) c.7231G= (p.Ala2411=) n.9367G= | |
6 | g.51748525C>G | CA3851448 | PKHD1 | c.9091G>C (p.Ala3031Pro) c.8962G>C (p.Ala2988Pro) c.8953G>C (p.Ala2985Pro) c.8449G>C (p.Ala2817Pro) c.8380G>C (p.Ala2794Pro) c.3166G>C (p.Ala1056Pro) c.9016G>C (p.Ala3006Pro) c.8896G>C (p.Ala2966Pro) c.8827G>C (p.Ala2943Pro) c.7231G>C (p.Ala2411Pro) n.9367G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748525C>T | CA364423895 | PKHD1 | c.9091G>A (p.Ala3031Thr) c.8962G>A (p.Ala2988Thr) c.8953G>A (p.Ala2985Thr) c.8449G>A (p.Ala2817Thr) c.8380G>A (p.Ala2794Thr) c.3166G>A (p.Ala1056Thr) c.9016G>A (p.Ala3006Thr) c.8896G>A (p.Ala2966Thr) c.8827G>A (p.Ala2943Thr) c.7231G>A (p.Ala2411Thr) n.9367G>A | |
6 | g.51748526T>A | CA450613801 | PKHD1 | c.9090A>T (p.Ala3030=) c.8961A>T (p.Ala2987=) c.8952A>T (p.Ala2984=) c.8448A>T (p.Ala2816=) c.8379A>T (p.Ala2793=) c.3165A>T (p.Ala1055=) c.9015A>T (p.Ala3005=) c.8895A>T (p.Ala2965=) c.8826A>T (p.Ala2942=) c.7230A>T (p.Ala2410=) n.9366A>T | |
6 | g.51748526T>C | CA450613802 | PKHD1 | c.9090A>G (p.Ala3030=) c.8961A>G (p.Ala2987=) c.8952A>G (p.Ala2984=) c.8448A>G (p.Ala2816=) c.8379A>G (p.Ala2793=) c.3165A>G (p.Ala1055=) c.9015A>G (p.Ala3005=) c.8895A>G (p.Ala2965=) c.8826A>G (p.Ala2942=) c.7230A>G (p.Ala2410=) n.9366A>G | ClinVar dbSNP gnomAD v4 |
6 | g.51748526T>G | CA450613800 | PKHD1 | c.9090A>C (p.Ala3030=) c.8961A>C (p.Ala2987=) c.8952A>C (p.Ala2984=) c.8448A>C (p.Ala2816=) c.8379A>C (p.Ala2793=) c.3165A>C (p.Ala1055=) c.9015A>C (p.Ala3005=) c.8895A>C (p.Ala2965=) c.8826A>C (p.Ala2942=) c.7230A>C (p.Ala2410=) n.9366A>C | |
6 | g.51748527G>A | CA364423897 | PKHD1 | c.9089C>T (p.Ala3030Val) c.8960C>T (p.Ala2987Val) c.8951C>T (p.Ala2984Val) c.8447C>T (p.Ala2816Val) c.8378C>T (p.Ala2793Val) c.3164C>T (p.Ala1055Val) c.9014C>T (p.Ala3005Val) c.8894C>T (p.Ala2965Val) c.8825C>T (p.Ala2942Val) c.7229C>T (p.Ala2410Val) n.9365C>T | |
6 | g.51748527G>C | CA364423900 | PKHD1 | c.9089C>G (p.Ala3030Gly) c.8960C>G (p.Ala2987Gly) c.8951C>G (p.Ala2984Gly) c.8447C>G (p.Ala2816Gly) c.8378C>G (p.Ala2793Gly) c.3164C>G (p.Ala1055Gly) c.9014C>G (p.Ala3005Gly) c.8894C>G (p.Ala2965Gly) c.8825C>G (p.Ala2942Gly) c.7229C>G (p.Ala2410Gly) n.9365C>G | |
6 | g.51748527G>T | CA364423901 | PKHD1 | c.9089C>A (p.Ala3030Glu) c.8960C>A (p.Ala2987Glu) c.8951C>A (p.Ala2984Glu) c.8447C>A (p.Ala2816Glu) c.8378C>A (p.Ala2793Glu) c.3164C>A (p.Ala1055Glu) c.9014C>A (p.Ala3005Glu) c.8894C>A (p.Ala2965Glu) c.8825C>A (p.Ala2942Glu) c.7229C>A (p.Ala2410Glu) n.9365C>A | |
6 | g.51748528C>A | CA364423905 | PKHD1 | c.9088G>T (p.Ala3030Ser) c.8959G>T (p.Ala2987Ser) c.8950G>T (p.Ala2984Ser) c.8446G>T (p.Ala2816Ser) c.8377G>T (p.Ala2793Ser) c.3163G>T (p.Ala1055Ser) c.9013G>T (p.Ala3005Ser) c.8893G>T (p.Ala2965Ser) c.8824G>T (p.Ala2942Ser) c.7228G>T (p.Ala2410Ser) n.9364G>T | |
6 | g.51748528C= | CA1628503656 | PKHD1 | c.9088G= (p.Ala3030=) c.8959G= (p.Ala2987=) c.8950G= (p.Ala2984=) c.8446G= (p.Ala2816=) c.8377G= (p.Ala2793=) c.3163G= (p.Ala1055=) c.9013G= (p.Ala3005=) c.8893G= (p.Ala2965=) c.8824G= (p.Ala2942=) c.7228G= (p.Ala2410=) n.9364G= | |
6 | g.51748528C>G | CA3851449 | PKHD1 | c.9088G>C (p.Ala3030Pro) c.8959G>C (p.Ala2987Pro) c.8950G>C (p.Ala2984Pro) c.8446G>C (p.Ala2816Pro) c.8377G>C (p.Ala2793Pro) c.3163G>C (p.Ala1055Pro) c.9013G>C (p.Ala3005Pro) c.8893G>C (p.Ala2965Pro) c.8824G>C (p.Ala2942Pro) c.7228G>C (p.Ala2410Pro) n.9364G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748528C>T | CA364423904 | PKHD1 | c.9088G>A (p.Ala3030Thr) c.8959G>A (p.Ala2987Thr) c.8950G>A (p.Ala2984Thr) c.8446G>A (p.Ala2816Thr) c.8377G>A (p.Ala2793Thr) c.3163G>A (p.Ala1055Thr) c.9013G>A (p.Ala3005Thr) c.8893G>A (p.Ala2965Thr) c.8824G>A (p.Ala2942Thr) c.7228G>A (p.Ala2410Thr) n.9364G>A | |
6 | g.51748529A= | CA1628503659 | PKHD1 | c.9087T= (p.His3029=) c.8958T= (p.His2986=) c.8949T= (p.His2983=) c.8445T= (p.His2815=) c.8376T= (p.His2792=) c.3162T= (p.His1054=) c.9012T= (p.His3004=) c.8892T= (p.His2964=) c.8823T= (p.His2941=) c.7227T= (p.His2409=) n.9363T= | |
6 | g.51748529A>C | CA364423908 | PKHD1 | c.9087T>G (p.His3029Gln) c.8958T>G (p.His2986Gln) c.8949T>G (p.His2983Gln) c.8445T>G (p.His2815Gln) c.8376T>G (p.His2792Gln) c.3162T>G (p.His1054Gln) c.9012T>G (p.His3004Gln) c.8892T>G (p.His2964Gln) c.8823T>G (p.His2941Gln) c.7227T>G (p.His2409Gln) n.9363T>G | |
6 | g.51748529A>G | CA3851450 | PKHD1 | c.9087T>C (p.His3029=) c.8958T>C (p.His2986=) c.8949T>C (p.His2983=) c.8445T>C (p.His2815=) c.8376T>C (p.His2792=) c.3162T>C (p.His1054=) c.9012T>C (p.His3004=) c.8892T>C (p.His2964=) c.8823T>C (p.His2941=) c.7227T>C (p.His2409=) n.9363T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748529A>T | CA364423910 | PKHD1 | c.9087T>A (p.His3029Gln) c.8958T>A (p.His2986Gln) c.8949T>A (p.His2983Gln) c.8445T>A (p.His2815Gln) c.8376T>A (p.His2792Gln) c.3162T>A (p.His1054Gln) c.9012T>A (p.His3004Gln) c.8892T>A (p.His2964Gln) c.8823T>A (p.His2941Gln) c.7227T>A (p.His2409Gln) n.9363T>A | |
6 | g.51748530T>A | CA3851451 | PKHD1 | c.9086A>T (p.His3029Leu) c.8957A>T (p.His2986Leu) c.8948A>T (p.His2983Leu) c.8444A>T (p.His2815Leu) c.8375A>T (p.His2792Leu) c.3161A>T (p.His1054Leu) c.9011A>T (p.His3004Leu) c.8891A>T (p.His2964Leu) c.8822A>T (p.His2941Leu) c.7226A>T (p.His2409Leu) n.9362A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748530T>C | CA364423919 | PKHD1 | c.9086A>G (p.His3029Arg) c.8957A>G (p.His2986Arg) c.8948A>G (p.His2983Arg) c.8444A>G (p.His2815Arg) c.8375A>G (p.His2792Arg) c.3161A>G (p.His1054Arg) c.9011A>G (p.His3004Arg) c.8891A>G (p.His2964Arg) c.8822A>G (p.His2941Arg) c.7226A>G (p.His2409Arg) n.9362A>G | |
6 | g.51748530T>G | CA364423921 | PKHD1 | c.9086A>C (p.His3029Pro) c.8957A>C (p.His2986Pro) c.8948A>C (p.His2983Pro) c.8444A>C (p.His2815Pro) c.8375A>C (p.His2792Pro) c.3161A>C (p.His1054Pro) c.9011A>C (p.His3004Pro) c.8891A>C (p.His2964Pro) c.8822A>C (p.His2941Pro) c.7226A>C (p.His2409Pro) n.9362A>C | gnomAD v4 |
6 | g.51748530T= | CA1628503665 | PKHD1 | c.9086A= (p.His3029=) c.8957A= (p.His2986=) c.8948A= (p.His2983=) c.8444A= (p.His2815=) c.8375A= (p.His2792=) c.3161A= (p.His1054=) c.9011A= (p.His3004=) c.8891A= (p.His2964=) c.8822A= (p.His2941=) c.7226A= (p.His2409=) n.9362A= | |
6 | g.51748531G>A | CA364423924 | PKHD1 | c.9085C>T (p.His3029Tyr) c.8956C>T (p.His2986Tyr) c.8947C>T (p.His2983Tyr) c.8443C>T (p.His2815Tyr) c.8374C>T (p.His2792Tyr) c.3160C>T (p.His1054Tyr) c.9010C>T (p.His3004Tyr) c.8890C>T (p.His2964Tyr) c.8821C>T (p.His2941Tyr) c.7225C>T (p.His2409Tyr) n.9361C>T | COSMIC COSMIC |
6 | g.51748531G>C | CA364423927 | PKHD1 | c.9085C>G (p.His3029Asp) c.8956C>G (p.His2986Asp) c.8947C>G (p.His2983Asp) c.8443C>G (p.His2815Asp) c.8374C>G (p.His2792Asp) c.3160C>G (p.His1054Asp) c.9010C>G (p.His3004Asp) c.8890C>G (p.His2964Asp) c.8821C>G (p.His2941Asp) c.7225C>G (p.His2409Asp) n.9361C>G | |
6 | g.51748531G>T | CA364423930 | PKHD1 | c.9085C>A (p.His3029Asn) c.8956C>A (p.His2986Asn) c.8947C>A (p.His2983Asn) c.8443C>A (p.His2815Asn) c.8374C>A (p.His2792Asn) c.3160C>A (p.His1054Asn) c.9010C>A (p.His3004Asn) c.8890C>A (p.His2964Asn) c.8821C>A (p.His2941Asn) c.7225C>A (p.His2409Asn) n.9361C>A | gnomAD v4 |
6 | g.51748532A>C | CA364423932 | PKHD1 | c.9084T>G (p.Ile3028Met) c.8955T>G (p.Ile2985Met) c.8946T>G (p.Ile2982Met) c.8442T>G (p.Ile2814Met) c.8373T>G (p.Ile2791Met) c.3159T>G (p.Ile1053Met) c.9009T>G (p.Ile3003Met) c.8889T>G (p.Ile2963Met) c.8820T>G (p.Ile2940Met) c.7224T>G (p.Ile2408Met) n.9360T>G | |
6 | g.51748532A>G | CA450613807 | PKHD1 | c.9084T>C (p.Ile3028=) c.8955T>C (p.Ile2985=) c.8946T>C (p.Ile2982=) c.8442T>C (p.Ile2814=) c.8373T>C (p.Ile2791=) c.3159T>C (p.Ile1053=) c.9009T>C (p.Ile3003=) c.8889T>C (p.Ile2963=) c.8820T>C (p.Ile2940=) c.7224T>C (p.Ile2408=) n.9360T>C | |
6 | g.51748532A>T | CA450613808 | PKHD1 | c.9084T>A (p.Ile3028=) c.8955T>A (p.Ile2985=) c.8946T>A (p.Ile2982=) c.8442T>A (p.Ile2814=) c.8373T>A (p.Ile2791=) c.3159T>A (p.Ile1053=) c.9009T>A (p.Ile3003=) c.8889T>A (p.Ile2963=) c.8820T>A (p.Ile2940=) c.7224T>A (p.Ile2408=) n.9360T>A | |
6 | g.51748533A>C | CA364423933 | PKHD1 | c.9083T>G (p.Ile3028Ser) c.8954T>G (p.Ile2985Ser) c.8945T>G (p.Ile2982Ser) c.8441T>G (p.Ile2814Ser) c.8372T>G (p.Ile2791Ser) c.3158T>G (p.Ile1053Ser) c.9008T>G (p.Ile3003Ser) c.8888T>G (p.Ile2963Ser) c.8819T>G (p.Ile2940Ser) c.7223T>G (p.Ile2408Ser) n.9359T>G | |
6 | g.51748533A>G | CA364423934 | PKHD1 | c.9083T>C (p.Ile3028Thr) c.8954T>C (p.Ile2985Thr) c.8945T>C (p.Ile2982Thr) c.8441T>C (p.Ile2814Thr) c.8372T>C (p.Ile2791Thr) c.3158T>C (p.Ile1053Thr) c.9008T>C (p.Ile3003Thr) c.8888T>C (p.Ile2963Thr) c.8819T>C (p.Ile2940Thr) c.7223T>C (p.Ile2408Thr) n.9359T>C | |
6 | g.51748533A>T | CA364423937 | PKHD1 | c.9083T>A (p.Ile3028Asn) c.8954T>A (p.Ile2985Asn) c.8945T>A (p.Ile2982Asn) c.8441T>A (p.Ile2814Asn) c.8372T>A (p.Ile2791Asn) c.3158T>A (p.Ile1053Asn) c.9008T>A (p.Ile3003Asn) c.8888T>A (p.Ile2963Asn) c.8819T>A (p.Ile2940Asn) c.7223T>A (p.Ile2408Asn) n.9359T>A | |
6 | g.51748534T>A | CA364423941 | PKHD1 | c.9082A>T (p.Ile3028Phe) c.8953A>T (p.Ile2985Phe) c.8944A>T (p.Ile2982Phe) c.8440A>T (p.Ile2814Phe) c.8371A>T (p.Ile2791Phe) c.3157A>T (p.Ile1053Phe) c.9007A>T (p.Ile3003Phe) c.8887A>T (p.Ile2963Phe) c.8818A>T (p.Ile2940Phe) c.7222A>T (p.Ile2408Phe) n.9358A>T | |
6 | g.51748534T>C | CA364423944 | PKHD1 | c.9082A>G (p.Ile3028Val) c.8953A>G (p.Ile2985Val) c.8944A>G (p.Ile2982Val) c.8440A>G (p.Ile2814Val) c.8371A>G (p.Ile2791Val) c.3157A>G (p.Ile1053Val) c.9007A>G (p.Ile3003Val) c.8887A>G (p.Ile2963Val) c.8818A>G (p.Ile2940Val) c.7222A>G (p.Ile2408Val) n.9358A>G | |
6 | g.51748534T>G | CA138896699 | PKHD1 | c.9082A>C (p.Ile3028Leu) c.8953A>C (p.Ile2985Leu) c.8944A>C (p.Ile2982Leu) c.8440A>C (p.Ile2814Leu) c.8371A>C (p.Ile2791Leu) c.3157A>C (p.Ile1053Leu) c.9007A>C (p.Ile3003Leu) c.8887A>C (p.Ile2963Leu) c.8818A>C (p.Ile2940Leu) c.7222A>C (p.Ile2408Leu) n.9358A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748534T= | CA1628503672 | PKHD1 | c.9082A= (p.Ile3028=) c.8953A= (p.Ile2985=) c.8944A= (p.Ile2982=) c.8440A= (p.Ile2814=) c.8371A= (p.Ile2791=) c.3157A= (p.Ile1053=) c.9007A= (p.Ile3003=) c.8887A= (p.Ile2963=) c.8818A= (p.Ile2940=) c.7222A= (p.Ile2408=) n.9358A= | |
6 | g.51748534_51748535dup | CA2697553463 | PKHD1 | c.9081_9082dup (p.Ile3028ThrfsTer12) c.8952_8953dup (p.Ile2985ThrfsTer12) c.8943_8944dup (p.Ile2982ThrfsTer12) c.8439_8440dup (p.Ile2814ThrfsTer12) c.8370_8371dup (p.Ile2791ThrfsTer12) c.3156_3157dup (p.Ile1053ThrfsTer12) c.9006_9007dup (p.Ile3003ThrfsTer12) c.8886_8887dup (p.Ile2963ThrfsTer12) c.8817_8818dup (p.Ile2940ThrfsTer12) c.7221_7222dup (p.Ile2408ThrfsTer12) n.9357_9358dup | ClinVar |
6 | g.51748535G>A | CA450613810 | PKHD1 | c.9081C>T (p.Gly3027=) c.8952C>T (p.Gly2984=) c.8943C>T (p.Gly2981=) c.8439C>T (p.Gly2813=) c.8370C>T (p.Gly2790=) c.3156C>T (p.Gly1052=) c.9006C>T (p.Gly3002=) c.8886C>T (p.Gly2962=) c.8817C>T (p.Gly2939=) c.7221C>T (p.Gly2407=) n.9357C>T | |
6 | g.51748535G>C | CA450613811 | PKHD1 | c.9081C>G (p.Gly3027=) c.8952C>G (p.Gly2984=) c.8943C>G (p.Gly2981=) c.8439C>G (p.Gly2813=) c.8370C>G (p.Gly2790=) c.3156C>G (p.Gly1052=) c.9006C>G (p.Gly3002=) c.8886C>G (p.Gly2962=) c.8817C>G (p.Gly2939=) c.7221C>G (p.Gly2407=) n.9357C>G | |
6 | g.51748535G>T | CA450613812 | PKHD1 | c.9081C>A (p.Gly3027=) c.8952C>A (p.Gly2984=) c.8943C>A (p.Gly2981=) c.8439C>A (p.Gly2813=) c.8370C>A (p.Gly2790=) c.3156C>A (p.Gly1052=) c.9006C>A (p.Gly3002=) c.8886C>A (p.Gly2962=) c.8817C>A (p.Gly2939=) c.7221C>A (p.Gly2407=) n.9357C>A | |
6 | g.51748536C>A | CA364423946 | PKHD1 | c.9080G>T (p.Gly3027Val) c.8951G>T (p.Gly2984Val) c.8942G>T (p.Gly2981Val) c.8438G>T (p.Gly2813Val) c.8369G>T (p.Gly2790Val) c.3155G>T (p.Gly1052Val) c.9005G>T (p.Gly3002Val) c.8885G>T (p.Gly2962Val) c.8816G>T (p.Gly2939Val) c.7220G>T (p.Gly2407Val) n.9356G>T | |
6 | g.51748536C>G | CA364423948 | PKHD1 | c.9080G>C (p.Gly3027Ala) c.8951G>C (p.Gly2984Ala) c.8942G>C (p.Gly2981Ala) c.8438G>C (p.Gly2813Ala) c.8369G>C (p.Gly2790Ala) c.3155G>C (p.Gly1052Ala) c.9005G>C (p.Gly3002Ala) c.8885G>C (p.Gly2962Ala) c.8816G>C (p.Gly2939Ala) c.7220G>C (p.Gly2407Ala) n.9356G>C | |
6 | g.51748536C>T | CA364423950 | PKHD1 | c.9080G>A (p.Gly3027Asp) c.8951G>A (p.Gly2984Asp) c.8942G>A (p.Gly2981Asp) c.8438G>A (p.Gly2813Asp) c.8369G>A (p.Gly2790Asp) c.3155G>A (p.Gly1052Asp) c.9005G>A (p.Gly3002Asp) c.8885G>A (p.Gly2962Asp) c.8816G>A (p.Gly2939Asp) c.7220G>A (p.Gly2407Asp) n.9356G>A | gnomAD v4 COSMIC COSMIC |
6 | g.51748537C>A | CA364423953 | PKHD1 | c.9079G>T (p.Gly3027Cys) c.8950G>T (p.Gly2984Cys) c.8941G>T (p.Gly2981Cys) c.8437G>T (p.Gly2813Cys) c.8368G>T (p.Gly2790Cys) c.3154G>T (p.Gly1052Cys) c.9004G>T (p.Gly3002Cys) c.8884G>T (p.Gly2962Cys) c.8815G>T (p.Gly2939Cys) c.7219G>T (p.Gly2407Cys) n.9355G>T | |
6 | g.51748537C>G | CA364423955 | PKHD1 | c.9079G>C (p.Gly3027Arg) c.8950G>C (p.Gly2984Arg) c.8941G>C (p.Gly2981Arg) c.8437G>C (p.Gly2813Arg) c.8368G>C (p.Gly2790Arg) c.3154G>C (p.Gly1052Arg) c.9004G>C (p.Gly3002Arg) c.8884G>C (p.Gly2962Arg) c.8815G>C (p.Gly2939Arg) c.7219G>C (p.Gly2407Arg) n.9355G>C | |
6 | g.51748537C>T | CA364423958 | PKHD1 | c.9079G>A (p.Gly3027Ser) c.8950G>A (p.Gly2984Ser) c.8941G>A (p.Gly2981Ser) c.8437G>A (p.Gly2813Ser) c.8368G>A (p.Gly2790Ser) c.3154G>A (p.Gly1052Ser) c.9004G>A (p.Gly3002Ser) c.8884G>A (p.Gly2962Ser) c.8815G>A (p.Gly2939Ser) c.7219G>A (p.Gly2407Ser) n.9355G>A | COSMIC COSMIC |
6 | g.51748538C>A | CA450613814 | PKHD1 | c.9078G>T (p.Gly3026=) c.8949G>T (p.Gly2983=) c.8940G>T (p.Gly2980=) c.8436G>T (p.Gly2812=) c.8367G>T (p.Gly2789=) c.3153G>T (p.Gly1051=) c.9003G>T (p.Gly3001=) c.8883G>T (p.Gly2961=) c.8814G>T (p.Gly2938=) c.7218G>T (p.Gly2406=) n.9354G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748538C= | CA1628503686 | PKHD1 | c.9078G= (p.Gly3026=) c.8949G= (p.Gly2983=) c.8940G= (p.Gly2980=) c.8436G= (p.Gly2812=) c.8367G= (p.Gly2789=) c.3153G= (p.Gly1051=) c.9003G= (p.Gly3001=) c.8883G= (p.Gly2961=) c.8814G= (p.Gly2938=) c.7218G= (p.Gly2406=) n.9354G= | |
6 | g.51748538C>G | CA450613816 | PKHD1 | c.9078G>C (p.Gly3026=) c.8949G>C (p.Gly2983=) c.8940G>C (p.Gly2980=) c.8436G>C (p.Gly2812=) c.8367G>C (p.Gly2789=) c.3153G>C (p.Gly1051=) c.9003G>C (p.Gly3001=) c.8883G>C (p.Gly2961=) c.8814G>C (p.Gly2938=) c.7218G>C (p.Gly2406=) n.9354G>C | |
6 | g.51748538C>T | CA450613815 | PKHD1 | c.9078G>A (p.Gly3026=) c.8949G>A (p.Gly2983=) c.8940G>A (p.Gly2980=) c.8436G>A (p.Gly2812=) c.8367G>A (p.Gly2789=) c.3153G>A (p.Gly1051=) c.9003G>A (p.Gly3001=) c.8883G>A (p.Gly2961=) c.8814G>A (p.Gly2938=) c.7218G>A (p.Gly2406=) n.9354G>A | |
6 | g.51748539C>A | CA364423960 | PKHD1 | c.9077G>T (p.Gly3026Val) c.8948G>T (p.Gly2983Val) c.8939G>T (p.Gly2980Val) c.8435G>T (p.Gly2812Val) c.8366G>T (p.Gly2789Val) c.3152G>T (p.Gly1051Val) c.9002G>T (p.Gly3001Val) c.8882G>T (p.Gly2961Val) c.8813G>T (p.Gly2938Val) c.7217G>T (p.Gly2406Val) n.9353G>T | ClinVar dbSNP gnomAD v4 |
6 | g.51748539C= | CA1628503691 | PKHD1 | c.9077G= (p.Gly3026=) c.8948G= (p.Gly2983=) c.8939G= (p.Gly2980=) c.8435G= (p.Gly2812=) c.8366G= (p.Gly2789=) c.3152G= (p.Gly1051=) c.9002G= (p.Gly3001=) c.8882G= (p.Gly2961=) c.8813G= (p.Gly2938=) c.7217G= (p.Gly2406=) n.9353G= | |
6 | g.51748539C>G | CA364423963 | PKHD1 | c.9077G>C (p.Gly3026Ala) c.8948G>C (p.Gly2983Ala) c.8939G>C (p.Gly2980Ala) c.8435G>C (p.Gly2812Ala) c.8366G>C (p.Gly2789Ala) c.3152G>C (p.Gly1051Ala) c.9002G>C (p.Gly3001Ala) c.8882G>C (p.Gly2961Ala) c.8813G>C (p.Gly2938Ala) c.7217G>C (p.Gly2406Ala) n.9353G>C | |
6 | g.51748539C>T | CA364423962 | PKHD1 | c.9077G>A (p.Gly3026Glu) c.8948G>A (p.Gly2983Glu) c.8939G>A (p.Gly2980Glu) c.8435G>A (p.Gly2812Glu) c.8366G>A (p.Gly2789Glu) c.3152G>A (p.Gly1051Glu) c.9002G>A (p.Gly3001Glu) c.8882G>A (p.Gly2961Glu) c.8813G>A (p.Gly2938Glu) c.7217G>A (p.Gly2406Glu) n.9353G>A | |
6 | g.51748540C>A | CA364423966 | PKHD1 | c.9076G>T (p.Gly3026Trp) c.8947G>T (p.Gly2983Trp) c.8938G>T (p.Gly2980Trp) c.8434G>T (p.Gly2812Trp) c.8365G>T (p.Gly2789Trp) c.3151G>T (p.Gly1051Trp) c.9001G>T (p.Gly3001Trp) c.8881G>T (p.Gly2961Trp) c.8812G>T (p.Gly2938Trp) c.7216G>T (p.Gly2406Trp) n.9352G>T | |
6 | g.51748540C= | CA1628503700 | PKHD1 | c.9076G= (p.Gly3026=) c.8947G= (p.Gly2983=) c.8938G= (p.Gly2980=) c.8434G= (p.Gly2812=) c.8365G= (p.Gly2789=) c.3151G= (p.Gly1051=) c.9001G= (p.Gly3001=) c.8881G= (p.Gly2961=) c.8812G= (p.Gly2938=) c.7216G= (p.Gly2406=) n.9352G= | |
6 | g.51748540C>G | CA364423968 | PKHD1 | c.9076G>C (p.Gly3026Arg) c.8947G>C (p.Gly2983Arg) c.8938G>C (p.Gly2980Arg) c.8434G>C (p.Gly2812Arg) c.8365G>C (p.Gly2789Arg) c.3151G>C (p.Gly1051Arg) c.9001G>C (p.Gly3001Arg) c.8881G>C (p.Gly2961Arg) c.8812G>C (p.Gly2938Arg) c.7216G>C (p.Gly2406Arg) n.9352G>C | |
6 | g.51748540C>T | CA3851452 | PKHD1 | c.9076G>A (p.Gly3026Arg) c.8947G>A (p.Gly2983Arg) c.8938G>A (p.Gly2980Arg) c.8434G>A (p.Gly2812Arg) c.8365G>A (p.Gly2789Arg) c.3151G>A (p.Gly1051Arg) c.9001G>A (p.Gly3001Arg) c.8881G>A (p.Gly2961Arg) c.8812G>A (p.Gly2938Arg) c.7216G>A (p.Gly2406Arg) n.9352G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748541G>A | CA3851453 | PKHD1 | c.9075C>T (p.Gly3025=) c.8946C>T (p.Gly2982=) c.8937C>T (p.Gly2979=) c.8433C>T (p.Gly2811=) c.8364C>T (p.Gly2788=) c.3150C>T (p.Gly1050=) c.9000C>T (p.Gly3000=) c.8880C>T (p.Gly2960=) c.8811C>T (p.Gly2937=) c.7215C>T (p.Gly2405=) n.9351C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.51748541G>C | CA450613820 | PKHD1 | c.9075C>G (p.Gly3025=) c.8946C>G (p.Gly2982=) c.8937C>G (p.Gly2979=) c.8433C>G (p.Gly2811=) c.8364C>G (p.Gly2788=) c.3150C>G (p.Gly1050=) c.9000C>G (p.Gly3000=) c.8880C>G (p.Gly2960=) c.8811C>G (p.Gly2937=) c.7215C>G (p.Gly2405=) n.9351C>G | |
6 | g.51748541G= | CA1628503710 | PKHD1 | c.9075C= (p.Gly3025=) c.8946C= (p.Gly2982=) c.8937C= (p.Gly2979=) c.8433C= (p.Gly2811=) c.8364C= (p.Gly2788=) c.3150C= (p.Gly1050=) c.9000C= (p.Gly3000=) c.8880C= (p.Gly2960=) c.8811C= (p.Gly2937=) c.7215C= (p.Gly2405=) n.9351C= | |
6 | g.51748541G>T | CA450613821 | PKHD1 | c.9075C>A (p.Gly3025=) c.8946C>A (p.Gly2982=) c.8937C>A (p.Gly2979=) c.8433C>A (p.Gly2811=) c.8364C>A (p.Gly2788=) c.3150C>A (p.Gly1050=) c.9000C>A (p.Gly3000=) c.8880C>A (p.Gly2960=) c.8811C>A (p.Gly2937=) c.7215C>A (p.Gly2405=) n.9351C>A | |
6 | g.51748542C>A | CA364423976 | PKHD1 | c.9074G>T (p.Gly3025Val) c.8945G>T (p.Gly2982Val) c.8936G>T (p.Gly2979Val) c.8432G>T (p.Gly2811Val) c.8363G>T (p.Gly2788Val) c.3149G>T (p.Gly1050Val) c.8999G>T (p.Gly3000Val) c.8879G>T (p.Gly2960Val) c.8810G>T (p.Gly2937Val) c.7214G>T (p.Gly2405Val) n.9350G>T | |
6 | g.51748542C>G | CA364423983 | PKHD1 | c.9074G>C (p.Gly3025Ala) c.8945G>C (p.Gly2982Ala) c.8936G>C (p.Gly2979Ala) c.8432G>C (p.Gly2811Ala) c.8363G>C (p.Gly2788Ala) c.3149G>C (p.Gly1050Ala) c.8999G>C (p.Gly3000Ala) c.8879G>C (p.Gly2960Ala) c.8810G>C (p.Gly2937Ala) c.7214G>C (p.Gly2405Ala) n.9350G>C | |
6 | g.51748542C>T | CA364423980 | PKHD1 | c.9074G>A (p.Gly3025Asp) c.8945G>A (p.Gly2982Asp) c.8936G>A (p.Gly2979Asp) c.8432G>A (p.Gly2811Asp) c.8363G>A (p.Gly2788Asp) c.3149G>A (p.Gly1050Asp) c.8999G>A (p.Gly3000Asp) c.8879G>A (p.Gly2960Asp) c.8810G>A (p.Gly2937Asp) c.7214G>A (p.Gly2405Asp) n.9350G>A | |
6 | g.51748543C>A | CA364423986 | PKHD1 | c.9073G>T (p.Gly3025Cys) c.8944G>T (p.Gly2982Cys) c.8935G>T (p.Gly2979Cys) c.8431G>T (p.Gly2811Cys) c.8362G>T (p.Gly2788Cys) c.3148G>T (p.Gly1050Cys) c.8998G>T (p.Gly3000Cys) c.8878G>T (p.Gly2960Cys) c.8809G>T (p.Gly2937Cys) c.7213G>T (p.Gly2405Cys) n.9349G>T | |
6 | g.51748543C>G | CA364423988 | PKHD1 | c.9073G>C (p.Gly3025Arg) c.8944G>C (p.Gly2982Arg) c.8935G>C (p.Gly2979Arg) c.8431G>C (p.Gly2811Arg) c.8362G>C (p.Gly2788Arg) c.3148G>C (p.Gly1050Arg) c.8998G>C (p.Gly3000Arg) c.8878G>C (p.Gly2960Arg) c.8809G>C (p.Gly2937Arg) c.7213G>C (p.Gly2405Arg) n.9349G>C | |
6 | g.51748543C>T | CA364423987 | PKHD1 | c.9073G>A (p.Gly3025Ser) c.8944G>A (p.Gly2982Ser) c.8935G>A (p.Gly2979Ser) c.8431G>A (p.Gly2811Ser) c.8362G>A (p.Gly2788Ser) c.3148G>A (p.Gly1050Ser) c.8998G>A (p.Gly3000Ser) c.8878G>A (p.Gly2960Ser) c.8809G>A (p.Gly2937Ser) c.7213G>A (p.Gly2405Ser) n.9349G>A | |
6 | g.51748544A>C | CA364423989 | PKHD1 | c.9072T>G (p.Cys3024Trp) c.8943T>G (p.Cys2981Trp) c.8934T>G (p.Cys2978Trp) c.8430T>G (p.Cys2810Trp) c.8361T>G (p.Cys2787Trp) c.3147T>G (p.Cys1049Trp) c.8997T>G (p.Cys2999Trp) c.8877T>G (p.Cys2959Trp) c.8808T>G (p.Cys2936Trp) c.7212T>G (p.Cys2404Trp) n.9348T>G | |
6 | g.51748544A>G | CA450613822 | PKHD1 | c.9072T>C (p.Cys3024=) c.8943T>C (p.Cys2981=) c.8934T>C (p.Cys2978=) c.8430T>C (p.Cys2810=) c.8361T>C (p.Cys2787=) c.3147T>C (p.Cys1049=) c.8997T>C (p.Cys2999=) c.8877T>C (p.Cys2959=) c.8808T>C (p.Cys2936=) c.7212T>C (p.Cys2404=) n.9348T>C | ClinVar COSMIC COSMIC |
6 | g.51748544A>T | CA364423990 | PKHD1 | c.9072T>A (p.Cys3024Ter) c.8943T>A (p.Cys2981Ter) c.8934T>A (p.Cys2978Ter) c.8430T>A (p.Cys2810Ter) c.8361T>A (p.Cys2787Ter) c.3147T>A (p.Cys1049Ter) c.8997T>A (p.Cys2999Ter) c.8877T>A (p.Cys2959Ter) c.8808T>A (p.Cys2936Ter) c.7212T>A (p.Cys2404Ter) n.9348T>A | |
6 | g.51748545C>A | CA364423993 | PKHD1 | c.9071G>T (p.Cys3024Phe) c.8942G>T (p.Cys2981Phe) c.8933G>T (p.Cys2978Phe) c.8429G>T (p.Cys2810Phe) c.8360G>T (p.Cys2787Phe) c.3146G>T (p.Cys1049Phe) c.8996G>T (p.Cys2999Phe) c.8876G>T (p.Cys2959Phe) c.8807G>T (p.Cys2936Phe) c.7211G>T (p.Cys2404Phe) n.9347G>T | dbSNP gnomAD v2 |
6 | g.51748545C= | CA1628503714 | PKHD1 | c.9071G= (p.Cys3024=) c.8942G= (p.Cys2981=) c.8933G= (p.Cys2978=) c.8429G= (p.Cys2810=) c.8360G= (p.Cys2787=) c.3146G= (p.Cys1049=) c.8996G= (p.Cys2999=) c.8876G= (p.Cys2959=) c.8807G= (p.Cys2936=) c.7211G= (p.Cys2404=) n.9347G= | |
6 | g.51748545C>G | CA364423995 | PKHD1 | c.9071G>C (p.Cys3024Ser) c.8942G>C (p.Cys2981Ser) c.8933G>C (p.Cys2978Ser) c.8429G>C (p.Cys2810Ser) c.8360G>C (p.Cys2787Ser) c.3146G>C (p.Cys1049Ser) c.8996G>C (p.Cys2999Ser) c.8876G>C (p.Cys2959Ser) c.8807G>C (p.Cys2936Ser) c.7211G>C (p.Cys2404Ser) n.9347G>C | |
6 | g.51748545C>T | CA364423998 | PKHD1 | c.9071G>A (p.Cys3024Tyr) c.8942G>A (p.Cys2981Tyr) c.8933G>A (p.Cys2978Tyr) c.8429G>A (p.Cys2810Tyr) c.8360G>A (p.Cys2787Tyr) c.3146G>A (p.Cys1049Tyr) c.8996G>A (p.Cys2999Tyr) c.8876G>A (p.Cys2959Tyr) c.8807G>A (p.Cys2936Tyr) c.7211G>A (p.Cys2404Tyr) n.9347G>A | ClinVar dbSNP |
6 | g.51748546A>C | CA364424002 | PKHD1 | c.9070T>G (p.Cys3024Gly) c.8941T>G (p.Cys2981Gly) c.8932T>G (p.Cys2978Gly) c.8428T>G (p.Cys2810Gly) c.8359T>G (p.Cys2787Gly) c.3145T>G (p.Cys1049Gly) c.8995T>G (p.Cys2999Gly) c.8875T>G (p.Cys2959Gly) c.8806T>G (p.Cys2936Gly) c.7210T>G (p.Cys2404Gly) n.9346T>G | |
6 | g.51748546A>G | CA364424003 | PKHD1 | c.9070T>C (p.Cys3024Arg) c.8941T>C (p.Cys2981Arg) c.8932T>C (p.Cys2978Arg) c.8428T>C (p.Cys2810Arg) c.8359T>C (p.Cys2787Arg) c.3145T>C (p.Cys1049Arg) c.8995T>C (p.Cys2999Arg) c.8875T>C (p.Cys2959Arg) c.8806T>C (p.Cys2936Arg) c.7210T>C (p.Cys2404Arg) n.9346T>C | |
6 | g.51748546A>T | CA364424005 | PKHD1 | c.9070T>A (p.Cys3024Ser) c.8941T>A (p.Cys2981Ser) c.8932T>A (p.Cys2978Ser) c.8428T>A (p.Cys2810Ser) c.8359T>A (p.Cys2787Ser) c.3145T>A (p.Cys1049Ser) c.8995T>A (p.Cys2999Ser) c.8875T>A (p.Cys2959Ser) c.8806T>A (p.Cys2936Ser) c.7210T>A (p.Cys2404Ser) n.9346T>A | |
6 | g.51748546dup | CA2499218344 | PKHD1 | c.9070dup (p.Cys3024LeufsTer17) c.8941dup (p.Cys2981LeufsTer17) c.8932dup (p.Cys2978LeufsTer17) c.8428dup (p.Cys2810LeufsTer17) c.8359dup (p.Cys2787LeufsTer17) c.3145dup (p.Cys1049LeufsTer17) c.8995dup (p.Cys2999LeufsTer17) c.8875dup (p.Cys2959LeufsTer17) c.8806dup (p.Cys2936LeufsTer17) c.7210dup (p.Cys2404LeufsTer17) n.9346dup | ClinVar dbSNP |
6 | g.51748547G>A | CA450613824 | PKHD1 | c.9069C>T (p.Ser3023=) c.8940C>T (p.Ser2980=) c.8931C>T (p.Ser2977=) c.8427C>T (p.Ser2809=) c.8358C>T (p.Ser2786=) c.3144C>T (p.Ser1048=) c.8994C>T (p.Ser2998=) c.8874C>T (p.Ser2958=) c.8805C>T (p.Ser2935=) c.7209C>T (p.Ser2403=) n.9345C>T | ClinVar dbSNP gnomAD v4 |
6 | g.51748547G>C | CA364424009 | PKHD1 | c.9069C>G (p.Ser3023Arg) c.8940C>G (p.Ser2980Arg) c.8931C>G (p.Ser2977Arg) c.8427C>G (p.Ser2809Arg) c.8358C>G (p.Ser2786Arg) c.3144C>G (p.Ser1048Arg) c.8994C>G (p.Ser2998Arg) c.8874C>G (p.Ser2958Arg) c.8805C>G (p.Ser2935Arg) c.7209C>G (p.Ser2403Arg) n.9345C>G | |
6 | g.51748547G= | CA1628503722 | PKHD1 | c.9069C= (p.Ser3023=) c.8940C= (p.Ser2980=) c.8931C= (p.Ser2977=) c.8427C= (p.Ser2809=) c.8358C= (p.Ser2786=) c.3144C= (p.Ser1048=) c.8994C= (p.Ser2998=) c.8874C= (p.Ser2958=) c.8805C= (p.Ser2935=) c.7209C= (p.Ser2403=) n.9345C= | |
6 | g.51748547G>T | CA364424012 | PKHD1 | c.9069C>A (p.Ser3023Arg) c.8940C>A (p.Ser2980Arg) c.8931C>A (p.Ser2977Arg) c.8427C>A (p.Ser2809Arg) c.8358C>A (p.Ser2786Arg) c.3144C>A (p.Ser1048Arg) c.8994C>A (p.Ser2998Arg) c.8874C>A (p.Ser2958Arg) c.8805C>A (p.Ser2935Arg) c.7209C>A (p.Ser2403Arg) n.9345C>A | gnomAD v4 |
6 | g.51748548C>A | CA364424017 | PKHD1 | c.9068G>T (p.Ser3023Ile) c.8939G>T (p.Ser2980Ile) c.8930G>T (p.Ser2977Ile) c.8426G>T (p.Ser2809Ile) c.8357G>T (p.Ser2786Ile) c.3143G>T (p.Ser1048Ile) c.8993G>T (p.Ser2998Ile) c.8873G>T (p.Ser2958Ile) c.8804G>T (p.Ser2935Ile) c.7208G>T (p.Ser2403Ile) n.9344G>T | gnomAD v4 |
6 | g.51748548C>G | CA364424020 | PKHD1 | c.9068G>C (p.Ser3023Thr) c.8939G>C (p.Ser2980Thr) c.8930G>C (p.Ser2977Thr) c.8426G>C (p.Ser2809Thr) c.8357G>C (p.Ser2786Thr) c.3143G>C (p.Ser1048Thr) c.8993G>C (p.Ser2998Thr) c.8873G>C (p.Ser2958Thr) c.8804G>C (p.Ser2935Thr) c.7208G>C (p.Ser2403Thr) n.9344G>C | |
6 | g.51748548C>T | CA364424025 | PKHD1 | c.9068G>A (p.Ser3023Asn) c.8939G>A (p.Ser2980Asn) c.8930G>A (p.Ser2977Asn) c.8426G>A (p.Ser2809Asn) c.8357G>A (p.Ser2786Asn) c.3143G>A (p.Ser1048Asn) c.8993G>A (p.Ser2998Asn) c.8873G>A (p.Ser2958Asn) c.8804G>A (p.Ser2935Asn) c.7208G>A (p.Ser2403Asn) n.9344G>A | gnomAD v4 |
6 | g.51748549T>A | CA364424028 | PKHD1 | c.9067A>T (p.Ser3023Cys) c.8938A>T (p.Ser2980Cys) c.8929A>T (p.Ser2977Cys) c.8425A>T (p.Ser2809Cys) c.8356A>T (p.Ser2786Cys) c.3142A>T (p.Ser1048Cys) c.8992A>T (p.Ser2998Cys) c.8872A>T (p.Ser2958Cys) c.8803A>T (p.Ser2935Cys) c.7207A>T (p.Ser2403Cys) n.9343A>T | |
6 | g.51748549T>C | CA364424033 | PKHD1 | c.9067A>G (p.Ser3023Gly) c.8938A>G (p.Ser2980Gly) c.8929A>G (p.Ser2977Gly) c.8425A>G (p.Ser2809Gly) c.8356A>G (p.Ser2786Gly) c.3142A>G (p.Ser1048Gly) c.8992A>G (p.Ser2998Gly) c.8872A>G (p.Ser2958Gly) c.8803A>G (p.Ser2935Gly) c.7207A>G (p.Ser2403Gly) n.9343A>G | |
6 | g.51748549T>G | CA3851454 | PKHD1 | c.9067A>C (p.Ser3023Arg) c.8938A>C (p.Ser2980Arg) c.8929A>C (p.Ser2977Arg) c.8425A>C (p.Ser2809Arg) c.8356A>C (p.Ser2786Arg) c.3142A>C (p.Ser1048Arg) c.8992A>C (p.Ser2998Arg) c.8872A>C (p.Ser2958Arg) c.8803A>C (p.Ser2935Arg) c.7207A>C (p.Ser2403Arg) n.9343A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748549T= | CA1628503725 | PKHD1 | c.9067A= (p.Ser3023=) c.8938A= (p.Ser2980=) c.8929A= (p.Ser2977=) c.8425A= (p.Ser2809=) c.8356A= (p.Ser2786=) c.3142A= (p.Ser1048=) c.8992A= (p.Ser2998=) c.8872A= (p.Ser2958=) c.8803A= (p.Ser2935=) c.7207A= (p.Ser2403=) n.9343A= | |
6 | g.51748550C>A | CA364424035 | PKHD1 | c.9066G>T (p.Gln3022His) c.8937G>T (p.Gln2979His) c.8928G>T (p.Gln2976His) c.8424G>T (p.Gln2808His) c.8355G>T (p.Gln2785His) c.3141G>T (p.Gln1047His) c.8991G>T (p.Gln2997His) c.8871G>T (p.Gln2957His) c.8802G>T (p.Gln2934His) c.7206G>T (p.Gln2402His) n.9342G>T | |
6 | g.51748550C>G | CA364424036 | PKHD1 | c.9066G>C (p.Gln3022His) c.8937G>C (p.Gln2979His) c.8928G>C (p.Gln2976His) c.8424G>C (p.Gln2808His) c.8355G>C (p.Gln2785His) c.3141G>C (p.Gln1047His) c.8991G>C (p.Gln2997His) c.8871G>C (p.Gln2957His) c.8802G>C (p.Gln2934His) c.7206G>C (p.Gln2402His) n.9342G>C | |
6 | g.51748550C>T | CA450613828 | PKHD1 | c.9066G>A (p.Gln3022=) c.8937G>A (p.Gln2979=) c.8928G>A (p.Gln2976=) c.8424G>A (p.Gln2808=) c.8355G>A (p.Gln2785=) c.3141G>A (p.Gln1047=) c.8991G>A (p.Gln2997=) c.8871G>A (p.Gln2957=) c.8802G>A (p.Gln2934=) c.7206G>A (p.Gln2402=) n.9342G>A | ClinVar dbSNP |
6 | g.51748551T>A | CA364424038 | PKHD1 | c.9065A>T (p.Gln3022Leu) c.8936A>T (p.Gln2979Leu) c.8927A>T (p.Gln2976Leu) c.8423A>T (p.Gln2808Leu) c.8354A>T (p.Gln2785Leu) c.3140A>T (p.Gln1047Leu) c.8990A>T (p.Gln2997Leu) c.8870A>T (p.Gln2957Leu) c.8801A>T (p.Gln2934Leu) c.7205A>T (p.Gln2402Leu) n.9341A>T | |
6 | g.51748551T>C | CA364424041 | PKHD1 | c.9065A>G (p.Gln3022Arg) c.8936A>G (p.Gln2979Arg) c.8927A>G (p.Gln2976Arg) c.8423A>G (p.Gln2808Arg) c.8354A>G (p.Gln2785Arg) c.3140A>G (p.Gln1047Arg) c.8990A>G (p.Gln2997Arg) c.8870A>G (p.Gln2957Arg) c.8801A>G (p.Gln2934Arg) c.7205A>G (p.Gln2402Arg) n.9341A>G | |
6 | g.51748551T>G | CA364424042 | PKHD1 | c.9065A>C (p.Gln3022Pro) c.8936A>C (p.Gln2979Pro) c.8927A>C (p.Gln2976Pro) c.8423A>C (p.Gln2808Pro) c.8354A>C (p.Gln2785Pro) c.3140A>C (p.Gln1047Pro) c.8990A>C (p.Gln2997Pro) c.8870A>C (p.Gln2957Pro) c.8801A>C (p.Gln2934Pro) c.7205A>C (p.Gln2402Pro) n.9341A>C | |
6 | g.51748552G>A | CA364424045 | PKHD1 | c.9064C>T (p.Gln3022Ter) c.8935C>T (p.Gln2979Ter) c.8926C>T (p.Gln2976Ter) c.8422C>T (p.Gln2808Ter) c.8353C>T (p.Gln2785Ter) c.3139C>T (p.Gln1047Ter) c.8989C>T (p.Gln2997Ter) c.8869C>T (p.Gln2957Ter) c.8800C>T (p.Gln2934Ter) c.7204C>T (p.Gln2402Ter) n.9340C>T | |
6 | g.51748552G>C | CA364424047 | PKHD1 | c.9064C>G (p.Gln3022Glu) c.8935C>G (p.Gln2979Glu) c.8926C>G (p.Gln2976Glu) c.8422C>G (p.Gln2808Glu) c.8353C>G (p.Gln2785Glu) c.3139C>G (p.Gln1047Glu) c.8989C>G (p.Gln2997Glu) c.8869C>G (p.Gln2957Glu) c.8800C>G (p.Gln2934Glu) c.7204C>G (p.Gln2402Glu) n.9340C>G | |
6 | g.51748552G>T | CA364424048 | PKHD1 | c.9064C>A (p.Gln3022Lys) c.8935C>A (p.Gln2979Lys) c.8926C>A (p.Gln2976Lys) c.8422C>A (p.Gln2808Lys) c.8353C>A (p.Gln2785Lys) c.3139C>A (p.Gln1047Lys) c.8989C>A (p.Gln2997Lys) c.8869C>A (p.Gln2957Lys) c.8800C>A (p.Gln2934Lys) c.7204C>A (p.Gln2402Lys) n.9340C>A | |
6 | g.51748553G>A | CA450613829 | PKHD1 | c.9063C>T (p.His3021=) c.8934C>T (p.His2978=) c.8925C>T (p.His2975=) c.8421C>T (p.His2807=) c.8352C>T (p.His2784=) c.3138C>T (p.His1046=) c.8988C>T (p.His2996=) c.8868C>T (p.His2956=) c.8799C>T (p.His2933=) c.7203C>T (p.His2401=) n.9339C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748553G>C | CA364424050 | PKHD1 | c.9063C>G (p.His3021Gln) c.8934C>G (p.His2978Gln) c.8925C>G (p.His2975Gln) c.8421C>G (p.His2807Gln) c.8352C>G (p.His2784Gln) c.3138C>G (p.His1046Gln) c.8988C>G (p.His2996Gln) c.8868C>G (p.His2956Gln) c.8799C>G (p.His2933Gln) c.7203C>G (p.His2401Gln) n.9339C>G | |
6 | g.51748553G= | CA1628503729 | PKHD1 | c.9063C= (p.His3021=) c.8934C= (p.His2978=) c.8925C= (p.His2975=) c.8421C= (p.His2807=) c.8352C= (p.His2784=) c.3138C= (p.His1046=) c.8988C= (p.His2996=) c.8868C= (p.His2956=) c.8799C= (p.His2933=) c.7203C= (p.His2401=) n.9339C= | |
6 | g.51748553G>T | CA364424052 | PKHD1 | c.9063C>A (p.His3021Gln) c.8934C>A (p.His2978Gln) c.8925C>A (p.His2975Gln) c.8421C>A (p.His2807Gln) c.8352C>A (p.His2784Gln) c.3138C>A (p.His1046Gln) c.8988C>A (p.His2996Gln) c.8868C>A (p.His2956Gln) c.8799C>A (p.His2933Gln) c.7203C>A (p.His2401Gln) n.9339C>A | |
6 | g.51748554T>A | CA364424056 | PKHD1 | c.9062A>T (p.His3021Leu) c.8933A>T (p.His2978Leu) c.8924A>T (p.His2975Leu) c.8420A>T (p.His2807Leu) c.8351A>T (p.His2784Leu) c.3137A>T (p.His1046Leu) c.8987A>T (p.His2996Leu) c.8867A>T (p.His2956Leu) c.8798A>T (p.His2933Leu) c.7202A>T (p.His2401Leu) n.9338A>T | |
6 | g.51748554T>C | CA364424055 | PKHD1 | c.9062A>G (p.His3021Arg) c.8933A>G (p.His2978Arg) c.8924A>G (p.His2975Arg) c.8420A>G (p.His2807Arg) c.8351A>G (p.His2784Arg) c.3137A>G (p.His1046Arg) c.8987A>G (p.His2996Arg) c.8867A>G (p.His2956Arg) c.8798A>G (p.His2933Arg) c.7202A>G (p.His2401Arg) n.9338A>G | |
6 | g.51748554T>G | CA364424053 | PKHD1 | c.9062A>C (p.His3021Pro) c.8933A>C (p.His2978Pro) c.8924A>C (p.His2975Pro) c.8420A>C (p.His2807Pro) c.8351A>C (p.His2784Pro) c.3137A>C (p.His1046Pro) c.8987A>C (p.His2996Pro) c.8867A>C (p.His2956Pro) c.8798A>C (p.His2933Pro) c.7202A>C (p.His2401Pro) n.9338A>C | dbSNP gnomAD v4 |
6 | g.51748554T= | CA1628503731 | PKHD1 | c.9062A= (p.His3021=) c.8933A= (p.His2978=) c.8924A= (p.His2975=) c.8420A= (p.His2807=) c.8351A= (p.His2784=) c.3137A= (p.His1046=) c.8987A= (p.His2996=) c.8867A= (p.His2956=) c.8798A= (p.His2933=) c.7202A= (p.His2401=) n.9338A= | |
6 | g.51748555G>A | CA364424057 | PKHD1 | c.9061C>T (p.His3021Tyr) c.8932C>T (p.His2978Tyr) c.8923C>T (p.His2975Tyr) c.8419C>T (p.His2807Tyr) c.8350C>T (p.His2784Tyr) c.3136C>T (p.His1046Tyr) c.8986C>T (p.His2996Tyr) c.8866C>T (p.His2956Tyr) c.8797C>T (p.His2933Tyr) c.7201C>T (p.His2401Tyr) n.9337C>T | dbSNP |
6 | g.51748555G>C | CA364424058 | PKHD1 | c.9061C>G (p.His3021Asp) c.8932C>G (p.His2978Asp) c.8923C>G (p.His2975Asp) c.8419C>G (p.His2807Asp) c.8350C>G (p.His2784Asp) c.3136C>G (p.His1046Asp) c.8986C>G (p.His2996Asp) c.8866C>G (p.His2956Asp) c.8797C>G (p.His2933Asp) c.7201C>G (p.His2401Asp) n.9337C>G | |
6 | g.51748555G= | CA1628503737 | PKHD1 | c.9061C= (p.His3021=) c.8932C= (p.His2978=) c.8923C= (p.His2975=) c.8419C= (p.His2807=) c.8350C= (p.His2784=) c.3136C= (p.His1046=) c.8986C= (p.His2996=) c.8866C= (p.His2956=) c.8797C= (p.His2933=) c.7201C= (p.His2401=) n.9337C= | |
6 | g.51748555G>T | CA364424059 | PKHD1 | c.9061C>A (p.His3021Asn) c.8932C>A (p.His2978Asn) c.8923C>A (p.His2975Asn) c.8419C>A (p.His2807Asn) c.8350C>A (p.His2784Asn) c.3136C>A (p.His1046Asn) c.8986C>A (p.His2996Asn) c.8866C>A (p.His2956Asn) c.8797C>A (p.His2933Asn) c.7201C>A (p.His2401Asn) n.9337C>A | |
6 | g.51748556C>A | CA450613977 | PKHD1 | c.9060G>T (p.Leu3020=) c.8931G>T (p.Leu2977=) c.8922G>T (p.Leu2974=) c.8418G>T (p.Leu2806=) c.8349G>T (p.Leu2783=) c.3135G>T (p.Leu1045=) c.8985G>T (p.Leu2995=) c.8865G>T (p.Leu2955=) c.8796G>T (p.Leu2932=) c.7200G>T (p.Leu2400=) n.9336G>T | |
6 | g.51748556C>G | CA450613978 | PKHD1 | c.9060G>C (p.Leu3020=) c.8931G>C (p.Leu2977=) c.8922G>C (p.Leu2974=) c.8418G>C (p.Leu2806=) c.8349G>C (p.Leu2783=) c.3135G>C (p.Leu1045=) c.8985G>C (p.Leu2995=) c.8865G>C (p.Leu2955=) c.8796G>C (p.Leu2932=) c.7200G>C (p.Leu2400=) n.9336G>C | |
6 | g.51748556C>T | CA450613979 | PKHD1 | c.9060G>A (p.Leu3020=) c.8931G>A (p.Leu2977=) c.8922G>A (p.Leu2974=) c.8418G>A (p.Leu2806=) c.8349G>A (p.Leu2783=) c.3135G>A (p.Leu1045=) c.8985G>A (p.Leu2995=) c.8865G>A (p.Leu2955=) c.8796G>A (p.Leu2932=) c.7200G>A (p.Leu2400=) n.9336G>A | ClinVar dbSNP |
6 | g.51748557A= | CA1628503742 | PKHD1 | c.9059T= (p.Leu3020=) c.8930T= (p.Leu2977=) c.8921T= (p.Leu2974=) c.8417T= (p.Leu2806=) c.8348T= (p.Leu2783=) c.3134T= (p.Leu1045=) c.8984T= (p.Leu2995=) c.8864T= (p.Leu2955=) c.8795T= (p.Leu2932=) c.7199T= (p.Leu2400=) n.9335T= | |
6 | g.51748557A>C | CA364424060 | PKHD1 | c.9059T>G (p.Leu3020Arg) c.8930T>G (p.Leu2977Arg) c.8921T>G (p.Leu2974Arg) c.8417T>G (p.Leu2806Arg) c.8348T>G (p.Leu2783Arg) c.3134T>G (p.Leu1045Arg) c.8984T>G (p.Leu2995Arg) c.8864T>G (p.Leu2955Arg) c.8795T>G (p.Leu2932Arg) c.7199T>G (p.Leu2400Arg) n.9335T>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748557A>G | CA3851455 | PKHD1 | c.9059T>C (p.Leu3020Pro) c.8930T>C (p.Leu2977Pro) c.8921T>C (p.Leu2974Pro) c.8417T>C (p.Leu2806Pro) c.8348T>C (p.Leu2783Pro) c.3134T>C (p.Leu1045Pro) c.8984T>C (p.Leu2995Pro) c.8864T>C (p.Leu2955Pro) c.8795T>C (p.Leu2932Pro) c.7199T>C (p.Leu2400Pro) n.9335T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748557A>T | CA364424061 | PKHD1 | c.9059T>A (p.Leu3020Gln) c.8930T>A (p.Leu2977Gln) c.8921T>A (p.Leu2974Gln) c.8417T>A (p.Leu2806Gln) c.8348T>A (p.Leu2783Gln) c.3134T>A (p.Leu1045Gln) c.8984T>A (p.Leu2995Gln) c.8864T>A (p.Leu2955Gln) c.8795T>A (p.Leu2932Gln) c.7199T>A (p.Leu2400Gln) n.9335T>A | |
6 | g.51748558G>A | CA3851456 | PKHD1 | c.9058C>T (p.Leu3020=) c.8929C>T (p.Leu2977=) c.8920C>T (p.Leu2974=) c.8416C>T (p.Leu2806=) c.8347C>T (p.Leu2783=) c.3133C>T (p.Leu1045=) c.8983C>T (p.Leu2995=) c.8863C>T (p.Leu2955=) c.8794C>T (p.Leu2932=) c.7198C>T (p.Leu2400=) n.9334C>T | ClinVar dbSNP ExAC gnomAD v2 |
6 | g.51748558G>C | CA364424062 | PKHD1 | c.9058C>G (p.Leu3020Val) c.8929C>G (p.Leu2977Val) c.8920C>G (p.Leu2974Val) c.8416C>G (p.Leu2806Val) c.8347C>G (p.Leu2783Val) c.3133C>G (p.Leu1045Val) c.8983C>G (p.Leu2995Val) c.8863C>G (p.Leu2955Val) c.8794C>G (p.Leu2932Val) c.7198C>G (p.Leu2400Val) n.9334C>G | |
6 | g.51748558G= | CA1628503751 | PKHD1 | c.9058C= (p.Leu3020=) c.8929C= (p.Leu2977=) c.8920C= (p.Leu2974=) c.8416C= (p.Leu2806=) c.8347C= (p.Leu2783=) c.3133C= (p.Leu1045=) c.8983C= (p.Leu2995=) c.8863C= (p.Leu2955=) c.8794C= (p.Leu2932=) c.7198C= (p.Leu2400=) n.9334C= | |
6 | g.51748558G>T | CA364424063 | PKHD1 | c.9058C>A (p.Leu3020Met) c.8929C>A (p.Leu2977Met) c.8920C>A (p.Leu2974Met) c.8416C>A (p.Leu2806Met) c.8347C>A (p.Leu2783Met) c.3133C>A (p.Leu1045Met) c.8983C>A (p.Leu2995Met) c.8863C>A (p.Leu2955Met) c.8794C>A (p.Leu2932Met) c.7198C>A (p.Leu2400Met) n.9334C>A | |
6 | g.51748559A>C | CA450613984 | PKHD1 | c.9057T>G (p.Thr3019=) c.8928T>G (p.Thr2976=) c.8919T>G (p.Thr2973=) c.8415T>G (p.Thr2805=) c.8346T>G (p.Thr2782=) c.3132T>G (p.Thr1044=) c.8982T>G (p.Thr2994=) c.8862T>G (p.Thr2954=) c.8793T>G (p.Thr2931=) c.7197T>G (p.Thr2399=) n.9333T>G | |
6 | g.51748559A>G | CA450613986 | PKHD1 | c.9057T>C (p.Thr3019=) c.8928T>C (p.Thr2976=) c.8919T>C (p.Thr2973=) c.8415T>C (p.Thr2805=) c.8346T>C (p.Thr2782=) c.3132T>C (p.Thr1044=) c.8982T>C (p.Thr2994=) c.8862T>C (p.Thr2954=) c.8793T>C (p.Thr2931=) c.7197T>C (p.Thr2399=) n.9333T>C | |
6 | g.51748559A>T | CA450613988 | PKHD1 | c.9057T>A (p.Thr3019=) c.8928T>A (p.Thr2976=) c.8919T>A (p.Thr2973=) c.8415T>A (p.Thr2805=) c.8346T>A (p.Thr2782=) c.3132T>A (p.Thr1044=) c.8982T>A (p.Thr2994=) c.8862T>A (p.Thr2954=) c.8793T>A (p.Thr2931=) c.7197T>A (p.Thr2399=) n.9333T>A | |
6 | g.51748560G>A | CA364424064 | PKHD1 | c.9056C>T (p.Thr3019Ile) c.8927C>T (p.Thr2976Ile) c.8918C>T (p.Thr2973Ile) c.8414C>T (p.Thr2805Ile) c.8345C>T (p.Thr2782Ile) c.3131C>T (p.Thr1044Ile) c.8981C>T (p.Thr2994Ile) c.8861C>T (p.Thr2954Ile) c.8792C>T (p.Thr2931Ile) c.7196C>T (p.Thr2399Ile) n.9332C>T | |
6 | g.51748560G>C | CA364424065 | PKHD1 | c.9056C>G (p.Thr3019Ser) c.8927C>G (p.Thr2976Ser) c.8918C>G (p.Thr2973Ser) c.8414C>G (p.Thr2805Ser) c.8345C>G (p.Thr2782Ser) c.3131C>G (p.Thr1044Ser) c.8981C>G (p.Thr2994Ser) c.8861C>G (p.Thr2954Ser) c.8792C>G (p.Thr2931Ser) c.7196C>G (p.Thr2399Ser) n.9332C>G | gnomAD v4 |
6 | g.51748560G>T | CA364424066 | PKHD1 | c.9056C>A (p.Thr3019Asn) c.8927C>A (p.Thr2976Asn) c.8918C>A (p.Thr2973Asn) c.8414C>A (p.Thr2805Asn) c.8345C>A (p.Thr2782Asn) c.3131C>A (p.Thr1044Asn) c.8981C>A (p.Thr2994Asn) c.8861C>A (p.Thr2954Asn) c.8792C>A (p.Thr2931Asn) c.7196C>A (p.Thr2399Asn) n.9332C>A | |
6 | g.51748561T>A | CA364424068 | PKHD1 | c.9055A>T (p.Thr3019Ser) c.8926A>T (p.Thr2976Ser) c.8917A>T (p.Thr2973Ser) c.8413A>T (p.Thr2805Ser) c.8344A>T (p.Thr2782Ser) c.3130A>T (p.Thr1044Ser) c.8980A>T (p.Thr2994Ser) c.8860A>T (p.Thr2954Ser) c.8791A>T (p.Thr2931Ser) c.7195A>T (p.Thr2399Ser) n.9331A>T | |
6 | g.51748561T>C | CA364424069 | PKHD1 | c.9055A>G (p.Thr3019Ala) c.8926A>G (p.Thr2976Ala) c.8917A>G (p.Thr2973Ala) c.8413A>G (p.Thr2805Ala) c.8344A>G (p.Thr2782Ala) c.3130A>G (p.Thr1044Ala) c.8980A>G (p.Thr2994Ala) c.8860A>G (p.Thr2954Ala) c.8791A>G (p.Thr2931Ala) c.7195A>G (p.Thr2399Ala) n.9331A>G | |
6 | g.51748561T>G | CA364424067 | PKHD1 | c.9055A>C (p.Thr3019Pro) c.8926A>C (p.Thr2976Pro) c.8917A>C (p.Thr2973Pro) c.8413A>C (p.Thr2805Pro) c.8344A>C (p.Thr2782Pro) c.3130A>C (p.Thr1044Pro) c.8980A>C (p.Thr2994Pro) c.8860A>C (p.Thr2954Pro) c.8791A>C (p.Thr2931Pro) c.7195A>C (p.Thr2399Pro) n.9331A>C | |
6 | g.51748562A>C | CA450613991 | PKHD1 | c.9054T>G (p.Ser3018=) c.8925T>G (p.Ser2975=) c.8916T>G (p.Ser2972=) c.8412T>G (p.Ser2804=) c.8343T>G (p.Ser2781=) c.3129T>G (p.Ser1043=) c.8979T>G (p.Ser2993=) c.8859T>G (p.Ser2953=) c.8790T>G (p.Ser2930=) c.7194T>G (p.Ser2398=) n.9330T>G | |
6 | g.51748562A>G | CA450613992 | PKHD1 | c.9054T>C (p.Ser3018=) c.8925T>C (p.Ser2975=) c.8916T>C (p.Ser2972=) c.8412T>C (p.Ser2804=) c.8343T>C (p.Ser2781=) c.3129T>C (p.Ser1043=) c.8979T>C (p.Ser2993=) c.8859T>C (p.Ser2953=) c.8790T>C (p.Ser2930=) c.7194T>C (p.Ser2398=) n.9330T>C | |
6 | g.51748562A>T | CA450613993 | PKHD1 | c.9054T>A (p.Ser3018=) c.8925T>A (p.Ser2975=) c.8916T>A (p.Ser2972=) c.8412T>A (p.Ser2804=) c.8343T>A (p.Ser2781=) c.3129T>A (p.Ser1043=) c.8979T>A (p.Ser2993=) c.8859T>A (p.Ser2953=) c.8790T>A (p.Ser2930=) c.7194T>A (p.Ser2398=) n.9330T>A | |
6 | g.51748563G>A | CA253010 | PKHD1 | c.9053C>T (p.Ser3018Phe) c.8924C>T (p.Ser2975Phe) c.8915C>T (p.Ser2972Phe) c.8411C>T (p.Ser2804Phe) c.8342C>T (p.Ser2781Phe) c.3128C>T (p.Ser1043Phe) c.8978C>T (p.Ser2993Phe) c.8858C>T (p.Ser2953Phe) c.8789C>T (p.Ser2930Phe) c.7193C>T (p.Ser2398Phe) n.9329C>T | ClinVar dbSNP |
6 | g.51748563G>C | CA364424070 | PKHD1 | c.9053C>G (p.Ser3018Cys) c.8924C>G (p.Ser2975Cys) c.8915C>G (p.Ser2972Cys) c.8411C>G (p.Ser2804Cys) c.8342C>G (p.Ser2781Cys) c.3128C>G (p.Ser1043Cys) c.8978C>G (p.Ser2993Cys) c.8858C>G (p.Ser2953Cys) c.8789C>G (p.Ser2930Cys) c.7193C>G (p.Ser2398Cys) n.9329C>G | gnomAD v4 |
6 | g.51748563G= | CA1628503757 | PKHD1 | c.9053C= (p.Ser3018=) c.8924C= (p.Ser2975=) c.8915C= (p.Ser2972=) c.8411C= (p.Ser2804=) c.8342C= (p.Ser2781=) c.3128C= (p.Ser1043=) c.8978C= (p.Ser2993=) c.8858C= (p.Ser2953=) c.8789C= (p.Ser2930=) c.7193C= (p.Ser2398=) n.9329C= | |
6 | g.51748563G>T | CA364424071 | PKHD1 | c.9053C>A (p.Ser3018Tyr) c.8924C>A (p.Ser2975Tyr) c.8915C>A (p.Ser2972Tyr) c.8411C>A (p.Ser2804Tyr) c.8342C>A (p.Ser2781Tyr) c.3128C>A (p.Ser1043Tyr) c.8978C>A (p.Ser2993Tyr) c.8858C>A (p.Ser2953Tyr) c.8789C>A (p.Ser2930Tyr) c.7193C>A (p.Ser2398Tyr) n.9329C>A | |
6 | g.51748566_51748568del | CA2695206434 | PKHD1 | c.9051_9053del (p.Ser3018del) c.8922_8924del (p.Ser2975del) c.8913_8915del (p.Ser2972del) c.8409_8411del (p.Ser2804del) c.8340_8342del (p.Ser2781del) c.3126_3128del (p.Ser1043del) c.8976_8978del (p.Ser2993del) c.8856_8858del (p.Ser2953del) c.8787_8789del (p.Ser2930del) c.7191_7193del (p.Ser2398del) n.9327_9329del | |
6 | g.51748564A>C | CA364424072 | PKHD1 | c.9052T>G (p.Ser3018Ala) c.8923T>G (p.Ser2975Ala) c.8914T>G (p.Ser2972Ala) c.8410T>G (p.Ser2804Ala) c.8341T>G (p.Ser2781Ala) c.3127T>G (p.Ser1043Ala) c.8977T>G (p.Ser2993Ala) c.8857T>G (p.Ser2953Ala) c.8788T>G (p.Ser2930Ala) c.7192T>G (p.Ser2398Ala) n.9328T>G | |
6 | g.51748564A>G | CA364424073 | PKHD1 | c.9052T>C (p.Ser3018Pro) c.8923T>C (p.Ser2975Pro) c.8914T>C (p.Ser2972Pro) c.8410T>C (p.Ser2804Pro) c.8341T>C (p.Ser2781Pro) c.3127T>C (p.Ser1043Pro) c.8977T>C (p.Ser2993Pro) c.8857T>C (p.Ser2953Pro) c.8788T>C (p.Ser2930Pro) c.7192T>C (p.Ser2398Pro) n.9328T>C | |
6 | g.51748564A>T | CA364424074 | PKHD1 | c.9052T>A (p.Ser3018Thr) c.8923T>A (p.Ser2975Thr) c.8914T>A (p.Ser2972Thr) c.8410T>A (p.Ser2804Thr) c.8341T>A (p.Ser2781Thr) c.3127T>A (p.Ser1043Thr) c.8977T>A (p.Ser2993Thr) c.8857T>A (p.Ser2953Thr) c.8788T>A (p.Ser2930Thr) c.7192T>A (p.Ser2398Thr) n.9328T>A | |
6 | g.51748565T>A | CA450613996 | PKHD1 | c.9051A>T (p.Ser3017=) c.8922A>T (p.Ser2974=) c.8913A>T (p.Ser2971=) c.8409A>T (p.Ser2803=) c.8340A>T (p.Ser2780=) c.3126A>T (p.Ser1042=) c.8976A>T (p.Ser2992=) c.8856A>T (p.Ser2952=) c.8787A>T (p.Ser2929=) c.7191A>T (p.Ser2397=) n.9327A>T | |
6 | g.51748565T>C | CA450613998 | PKHD1 | c.9051A>G (p.Ser3017=) c.8922A>G (p.Ser2974=) c.8913A>G (p.Ser2971=) c.8409A>G (p.Ser2803=) c.8340A>G (p.Ser2780=) c.3126A>G (p.Ser1042=) c.8976A>G (p.Ser2992=) c.8856A>G (p.Ser2952=) c.8787A>G (p.Ser2929=) c.7191A>G (p.Ser2397=) n.9327A>G | gnomAD v4 |
6 | g.51748565T>G | CA450614000 | PKHD1 | c.9051A>C (p.Ser3017=) c.8922A>C (p.Ser2974=) c.8913A>C (p.Ser2971=) c.8409A>C (p.Ser2803=) c.8340A>C (p.Ser2780=) c.3126A>C (p.Ser1042=) c.8976A>C (p.Ser2992=) c.8856A>C (p.Ser2952=) c.8787A>C (p.Ser2929=) c.7191A>C (p.Ser2397=) n.9327A>C | |
6 | g.51748566G>A | CA364424075 | PKHD1 | c.9050C>T (p.Ser3017Leu) c.8921C>T (p.Ser2974Leu) c.8912C>T (p.Ser2971Leu) c.8408C>T (p.Ser2803Leu) c.8339C>T (p.Ser2780Leu) c.3125C>T (p.Ser1042Leu) c.8975C>T (p.Ser2992Leu) c.8855C>T (p.Ser2952Leu) c.8786C>T (p.Ser2929Leu) c.7190C>T (p.Ser2397Leu) n.9326C>T | |
6 | g.51748566G>C | CA364424077 | PKHD1 | c.9050C>G (p.Ser3017Ter) c.8921C>G (p.Ser2974Ter) c.8912C>G (p.Ser2971Ter) c.8408C>G (p.Ser2803Ter) c.8339C>G (p.Ser2780Ter) c.3125C>G (p.Ser1042Ter) c.8975C>G (p.Ser2992Ter) c.8855C>G (p.Ser2952Ter) c.8786C>G (p.Ser2929Ter) c.7190C>G (p.Ser2397Ter) n.9326C>G | |
6 | g.51748566G>T | CA364424076 | PKHD1 | c.9050C>A (p.Ser3017Ter) c.8921C>A (p.Ser2974Ter) c.8912C>A (p.Ser2971Ter) c.8408C>A (p.Ser2803Ter) c.8339C>A (p.Ser2780Ter) c.3125C>A (p.Ser1042Ter) c.8975C>A (p.Ser2992Ter) c.8855C>A (p.Ser2952Ter) c.8786C>A (p.Ser2929Ter) c.7190C>A (p.Ser2397Ter) n.9326C>A | |
6 | g.51748567A>C | CA364424078 | PKHD1 | c.9049T>G (p.Ser3017Ala) c.8920T>G (p.Ser2974Ala) c.8911T>G (p.Ser2971Ala) c.8407T>G (p.Ser2803Ala) c.8338T>G (p.Ser2780Ala) c.3124T>G (p.Ser1042Ala) c.8974T>G (p.Ser2992Ala) c.8854T>G (p.Ser2952Ala) c.8785T>G (p.Ser2929Ala) c.7189T>G (p.Ser2397Ala) n.9325T>G | |
6 | g.51748567A>G | CA364424079 | PKHD1 | c.9049T>C (p.Ser3017Pro) c.8920T>C (p.Ser2974Pro) c.8911T>C (p.Ser2971Pro) c.8407T>C (p.Ser2803Pro) c.8338T>C (p.Ser2780Pro) c.3124T>C (p.Ser1042Pro) c.8974T>C (p.Ser2992Pro) c.8854T>C (p.Ser2952Pro) c.8785T>C (p.Ser2929Pro) c.7189T>C (p.Ser2397Pro) n.9325T>C | |
6 | g.51748567A>T | CA364424080 | PKHD1 | c.9049T>A (p.Ser3017Thr) c.8920T>A (p.Ser2974Thr) c.8911T>A (p.Ser2971Thr) c.8407T>A (p.Ser2803Thr) c.8338T>A (p.Ser2780Thr) c.3124T>A (p.Ser1042Thr) c.8974T>A (p.Ser2992Thr) c.8854T>A (p.Ser2952Thr) c.8785T>A (p.Ser2929Thr) c.7189T>A (p.Ser2397Thr) n.9325T>A | |
6 | g.51748568T>A | CA450614003 | PKHD1 | c.9048A>T (p.Ile3016=) c.8919A>T (p.Ile2973=) c.8910A>T (p.Ile2970=) c.8406A>T (p.Ile2802=) c.8337A>T (p.Ile2779=) c.3123A>T (p.Ile1041=) c.8973A>T (p.Ile2991=) c.8853A>T (p.Ile2951=) c.8784A>T (p.Ile2928=) c.7188A>T (p.Ile2396=) n.9324A>T | |
6 | g.51748568T>C | CA364424081 | PKHD1 | c.9048A>G (p.Ile3016Met) c.8919A>G (p.Ile2973Met) c.8910A>G (p.Ile2970Met) c.8406A>G (p.Ile2802Met) c.8337A>G (p.Ile2779Met) c.3123A>G (p.Ile1041Met) c.8973A>G (p.Ile2991Met) c.8853A>G (p.Ile2951Met) c.8784A>G (p.Ile2928Met) c.7188A>G (p.Ile2396Met) n.9324A>G | gnomAD v4 |
6 | g.51748568T>G | CA450614005 | PKHD1 | c.9048A>C (p.Ile3016=) c.8919A>C (p.Ile2973=) c.8910A>C (p.Ile2970=) c.8406A>C (p.Ile2802=) c.8337A>C (p.Ile2779=) c.3123A>C (p.Ile1041=) c.8973A>C (p.Ile2991=) c.8853A>C (p.Ile2951=) c.8784A>C (p.Ile2928=) c.7188A>C (p.Ile2396=) n.9324A>C | |
6 | g.51748569A>C | CA364424084 | PKHD1 | c.9047T>G (p.Ile3016Arg) c.8918T>G (p.Ile2973Arg) c.8909T>G (p.Ile2970Arg) c.8405T>G (p.Ile2802Arg) c.8336T>G (p.Ile2779Arg) c.3122T>G (p.Ile1041Arg) c.8972T>G (p.Ile2991Arg) c.8852T>G (p.Ile2951Arg) c.8783T>G (p.Ile2928Arg) c.7187T>G (p.Ile2396Arg) n.9323T>G | |
6 | g.51748569A>G | CA364424082 | PKHD1 | c.9047T>C (p.Ile3016Thr) c.8918T>C (p.Ile2973Thr) c.8909T>C (p.Ile2970Thr) c.8405T>C (p.Ile2802Thr) c.8336T>C (p.Ile2779Thr) c.3122T>C (p.Ile1041Thr) c.8972T>C (p.Ile2991Thr) c.8852T>C (p.Ile2951Thr) c.8783T>C (p.Ile2928Thr) c.7187T>C (p.Ile2396Thr) n.9323T>C | |
6 | g.51748569A>T | CA364424083 | PKHD1 | c.9047T>A (p.Ile3016Lys) c.8918T>A (p.Ile2973Lys) c.8909T>A (p.Ile2970Lys) c.8405T>A (p.Ile2802Lys) c.8336T>A (p.Ile2779Lys) c.3122T>A (p.Ile1041Lys) c.8972T>A (p.Ile2991Lys) c.8852T>A (p.Ile2951Lys) c.8783T>A (p.Ile2928Lys) c.7187T>A (p.Ile2396Lys) n.9323T>A | |
6 | g.51748570T>A | CA364424085 | PKHD1 | c.9046A>T (p.Ile3016Leu) c.8917A>T (p.Ile2973Leu) c.8908A>T (p.Ile2970Leu) c.8404A>T (p.Ile2802Leu) c.8335A>T (p.Ile2779Leu) c.3121A>T (p.Ile1041Leu) c.8971A>T (p.Ile2991Leu) c.8851A>T (p.Ile2951Leu) c.8782A>T (p.Ile2928Leu) c.7186A>T (p.Ile2396Leu) n.9322A>T | |
6 | g.51748570T>C | CA364424086 | PKHD1 | c.9046A>G (p.Ile3016Val) c.8917A>G (p.Ile2973Val) c.8908A>G (p.Ile2970Val) c.8404A>G (p.Ile2802Val) c.8335A>G (p.Ile2779Val) c.3121A>G (p.Ile1041Val) c.8971A>G (p.Ile2991Val) c.8851A>G (p.Ile2951Val) c.8782A>G (p.Ile2928Val) c.7186A>G (p.Ile2396Val) n.9322A>G | |
6 | g.51748570T>G | CA364424087 | PKHD1 | c.9046A>C (p.Ile3016Leu) c.8917A>C (p.Ile2973Leu) c.8908A>C (p.Ile2970Leu) c.8404A>C (p.Ile2802Leu) c.8335A>C (p.Ile2779Leu) c.3121A>C (p.Ile1041Leu) c.8971A>C (p.Ile2991Leu) c.8851A>C (p.Ile2951Leu) c.8782A>C (p.Ile2928Leu) c.7186A>C (p.Ile2396Leu) n.9322A>C | |
6 | g.51748571G>A | CA450614010 | PKHD1 | c.9045C>T (p.Ile3015=) c.8916C>T (p.Ile2972=) c.8907C>T (p.Ile2969=) c.8403C>T (p.Ile2801=) c.8334C>T (p.Ile2778=) c.3120C>T (p.Ile1040=) c.8970C>T (p.Ile2990=) c.8850C>T (p.Ile2950=) c.8781C>T (p.Ile2927=) c.7185C>T (p.Ile2395=) n.9321C>T | |
6 | g.51748571G>C | CA364424088 | PKHD1 | c.9045C>G (p.Ile3015Met) c.8916C>G (p.Ile2972Met) c.8907C>G (p.Ile2969Met) c.8403C>G (p.Ile2801Met) c.8334C>G (p.Ile2778Met) c.3120C>G (p.Ile1040Met) c.8970C>G (p.Ile2990Met) c.8850C>G (p.Ile2950Met) c.8781C>G (p.Ile2927Met) c.7185C>G (p.Ile2395Met) n.9321C>G | |
6 | g.51748571G>T | CA450614012 | PKHD1 | c.9045C>A (p.Ile3015=) c.8916C>A (p.Ile2972=) c.8907C>A (p.Ile2969=) c.8403C>A (p.Ile2801=) c.8334C>A (p.Ile2778=) c.3120C>A (p.Ile1040=) c.8970C>A (p.Ile2990=) c.8850C>A (p.Ile2950=) c.8781C>A (p.Ile2927=) c.7185C>A (p.Ile2395=) n.9321C>A | |
6 | g.51748572A>C | CA364424089 | PKHD1 | c.9044T>G (p.Ile3015Ser) c.8915T>G (p.Ile2972Ser) c.8906T>G (p.Ile2969Ser) c.8402T>G (p.Ile2801Ser) c.8333T>G (p.Ile2778Ser) c.3119T>G (p.Ile1040Ser) c.8969T>G (p.Ile2990Ser) c.8849T>G (p.Ile2950Ser) c.8780T>G (p.Ile2927Ser) c.7184T>G (p.Ile2395Ser) n.9320T>G | ClinVar dbSNP |
6 | g.51748572A>G | CA364424090 | PKHD1 | c.9044T>C (p.Ile3015Thr) c.8915T>C (p.Ile2972Thr) c.8906T>C (p.Ile2969Thr) c.8402T>C (p.Ile2801Thr) c.8333T>C (p.Ile2778Thr) c.3119T>C (p.Ile1040Thr) c.8969T>C (p.Ile2990Thr) c.8849T>C (p.Ile2950Thr) c.8780T>C (p.Ile2927Thr) c.7184T>C (p.Ile2395Thr) n.9320T>C | |
6 | g.51748572A>T | CA364424091 | PKHD1 | c.9044T>A (p.Ile3015Asn) c.8915T>A (p.Ile2972Asn) c.8906T>A (p.Ile2969Asn) c.8402T>A (p.Ile2801Asn) c.8333T>A (p.Ile2778Asn) c.3119T>A (p.Ile1040Asn) c.8969T>A (p.Ile2990Asn) c.8849T>A (p.Ile2950Asn) c.8780T>A (p.Ile2927Asn) c.7184T>A (p.Ile2395Asn) n.9320T>A | |
6 | g.51748573T>A | CA364424094 | PKHD1 | c.9043A>T (p.Ile3015Phe) c.8914A>T (p.Ile2972Phe) c.8905A>T (p.Ile2969Phe) c.8401A>T (p.Ile2801Phe) c.8332A>T (p.Ile2778Phe) c.3118A>T (p.Ile1040Phe) c.8968A>T (p.Ile2990Phe) c.8848A>T (p.Ile2950Phe) c.8779A>T (p.Ile2927Phe) c.7183A>T (p.Ile2395Phe) n.9319A>T | |
6 | g.51748573T>C | CA364424092 | PKHD1 | c.9043A>G (p.Ile3015Val) c.8914A>G (p.Ile2972Val) c.8905A>G (p.Ile2969Val) c.8401A>G (p.Ile2801Val) c.8332A>G (p.Ile2778Val) c.3118A>G (p.Ile1040Val) c.8968A>G (p.Ile2990Val) c.8848A>G (p.Ile2950Val) c.8779A>G (p.Ile2927Val) c.7183A>G (p.Ile2395Val) n.9319A>G | gnomAD v4 |
6 | g.51748573T>G | CA364424093 | PKHD1 | c.9043A>C (p.Ile3015Leu) c.8914A>C (p.Ile2972Leu) c.8905A>C (p.Ile2969Leu) c.8401A>C (p.Ile2801Leu) c.8332A>C (p.Ile2778Leu) c.3118A>C (p.Ile1040Leu) c.8968A>C (p.Ile2990Leu) c.8848A>C (p.Ile2950Leu) c.8779A>C (p.Ile2927Leu) c.7183A>C (p.Ile2395Leu) n.9319A>C | |
6 | g.51748574C>A | CA364424095 | PKHD1 | c.9042G>T (p.Trp3014Cys) c.8913G>T (p.Trp2971Cys) c.8904G>T (p.Trp2968Cys) c.8400G>T (p.Trp2800Cys) c.8331G>T (p.Trp2777Cys) c.3117G>T (p.Trp1039Cys) c.8967G>T (p.Trp2989Cys) c.8847G>T (p.Trp2949Cys) c.8778G>T (p.Trp2926Cys) c.7182G>T (p.Trp2394Cys) n.9318G>T | dbSNP gnomAD v2 |
6 | g.51748574C= | CA1628503762 | PKHD1 | c.9042G= (p.Trp3014=) c.8913G= (p.Trp2971=) c.8904G= (p.Trp2968=) c.8400G= (p.Trp2800=) c.8331G= (p.Trp2777=) c.3117G= (p.Trp1039=) c.8967G= (p.Trp2989=) c.8847G= (p.Trp2949=) c.8778G= (p.Trp2926=) c.7182G= (p.Trp2394=) n.9318G= | |
6 | g.51748574C>G | CA364424096 | PKHD1 | c.9042G>C (p.Trp3014Cys) c.8913G>C (p.Trp2971Cys) c.8904G>C (p.Trp2968Cys) c.8400G>C (p.Trp2800Cys) c.8331G>C (p.Trp2777Cys) c.3117G>C (p.Trp1039Cys) c.8967G>C (p.Trp2989Cys) c.8847G>C (p.Trp2949Cys) c.8778G>C (p.Trp2926Cys) c.7182G>C (p.Trp2394Cys) n.9318G>C | dbSNP gnomAD v4 |
6 | g.51748574C>T | CA364424097 | PKHD1 | c.9042G>A (p.Trp3014Ter) c.8913G>A (p.Trp2971Ter) c.8904G>A (p.Trp2968Ter) c.8400G>A (p.Trp2800Ter) c.8331G>A (p.Trp2777Ter) c.3117G>A (p.Trp1039Ter) c.8967G>A (p.Trp2989Ter) c.8847G>A (p.Trp2949Ter) c.8778G>A (p.Trp2926Ter) c.7182G>A (p.Trp2394Ter) n.9318G>A | |
6 | g.51748575C>A | CA364424098 | PKHD1 | c.9041G>T (p.Trp3014Leu) c.8912G>T (p.Trp2971Leu) c.8903G>T (p.Trp2968Leu) c.8399G>T (p.Trp2800Leu) c.8330G>T (p.Trp2777Leu) c.3116G>T (p.Trp1039Leu) c.8966G>T (p.Trp2989Leu) c.8846G>T (p.Trp2949Leu) c.8777G>T (p.Trp2926Leu) c.7181G>T (p.Trp2394Leu) n.9317G>T | |
6 | g.51748575C>G | CA364424099 | PKHD1 | c.9041G>C (p.Trp3014Ser) c.8912G>C (p.Trp2971Ser) c.8903G>C (p.Trp2968Ser) c.8399G>C (p.Trp2800Ser) c.8330G>C (p.Trp2777Ser) c.3116G>C (p.Trp1039Ser) c.8966G>C (p.Trp2989Ser) c.8846G>C (p.Trp2949Ser) c.8777G>C (p.Trp2926Ser) c.7181G>C (p.Trp2394Ser) n.9317G>C | |
6 | g.51748575C>T | CA364424100 | PKHD1 | c.9041G>A (p.Trp3014Ter) c.8912G>A (p.Trp2971Ter) c.8903G>A (p.Trp2968Ter) c.8399G>A (p.Trp2800Ter) c.8330G>A (p.Trp2777Ter) c.3116G>A (p.Trp1039Ter) c.8966G>A (p.Trp2989Ter) c.8846G>A (p.Trp2949Ter) c.8777G>A (p.Trp2926Ter) c.7181G>A (p.Trp2394Ter) n.9317G>A | |
6 | g.51748576A>C | CA364424101 | PKHD1 | c.9040T>G (p.Trp3014Gly) c.8911T>G (p.Trp2971Gly) c.8902T>G (p.Trp2968Gly) c.8398T>G (p.Trp2800Gly) c.8329T>G (p.Trp2777Gly) c.3115T>G (p.Trp1039Gly) c.8965T>G (p.Trp2989Gly) c.8845T>G (p.Trp2949Gly) c.8776T>G (p.Trp2926Gly) c.7180T>G (p.Trp2394Gly) n.9316T>G | |
6 | g.51748576A>G | CA364424103 | PKHD1 | c.9040T>C (p.Trp3014Arg) c.8911T>C (p.Trp2971Arg) c.8902T>C (p.Trp2968Arg) c.8398T>C (p.Trp2800Arg) c.8329T>C (p.Trp2777Arg) c.3115T>C (p.Trp1039Arg) c.8965T>C (p.Trp2989Arg) c.8845T>C (p.Trp2949Arg) c.8776T>C (p.Trp2926Arg) c.7180T>C (p.Trp2394Arg) n.9316T>C | |
6 | g.51748576A>T | CA364424102 | PKHD1 | c.9040T>A (p.Trp3014Arg) c.8911T>A (p.Trp2971Arg) c.8902T>A (p.Trp2968Arg) c.8398T>A (p.Trp2800Arg) c.8329T>A (p.Trp2777Arg) c.3115T>A (p.Trp1039Arg) c.8965T>A (p.Trp2989Arg) c.8845T>A (p.Trp2949Arg) c.8776T>A (p.Trp2926Arg) c.7180T>A (p.Trp2394Arg) n.9316T>A | |
6 | g.51748577G>A | CA138896748 | PKHD1 | c.9039C>T (p.Ser3013=) c.8910C>T (p.Ser2970=) c.8901C>T (p.Ser2967=) c.8397C>T (p.Ser2799=) c.8328C>T (p.Ser2776=) c.3114C>T (p.Ser1038=) c.8964C>T (p.Ser2988=) c.8844C>T (p.Ser2948=) c.8775C>T (p.Ser2925=) c.7179C>T (p.Ser2393=) n.9315C>T | dbSNP |
6 | g.51748577G>C | CA450614023 | PKHD1 | c.9039C>G (p.Ser3013=) c.8910C>G (p.Ser2970=) c.8901C>G (p.Ser2967=) c.8397C>G (p.Ser2799=) c.8328C>G (p.Ser2776=) c.3114C>G (p.Ser1038=) c.8964C>G (p.Ser2988=) c.8844C>G (p.Ser2948=) c.8775C>G (p.Ser2925=) c.7179C>G (p.Ser2393=) n.9315C>G | gnomAD v4 |
6 | g.51748577G= | CA1628503773 | PKHD1 | c.9039C= (p.Ser3013=) c.8910C= (p.Ser2970=) c.8901C= (p.Ser2967=) c.8397C= (p.Ser2799=) c.8328C= (p.Ser2776=) c.3114C= (p.Ser1038=) c.8964C= (p.Ser2988=) c.8844C= (p.Ser2948=) c.8775C= (p.Ser2925=) c.7179C= (p.Ser2393=) n.9315C= | |
6 | g.51748577G>T | CA450614025 | PKHD1 | c.9039C>A (p.Ser3013=) c.8910C>A (p.Ser2970=) c.8901C>A (p.Ser2967=) c.8397C>A (p.Ser2799=) c.8328C>A (p.Ser2776=) c.3114C>A (p.Ser1038=) c.8964C>A (p.Ser2988=) c.8844C>A (p.Ser2948=) c.8775C>A (p.Ser2925=) c.7179C>A (p.Ser2393=) n.9315C>A | gnomAD v4 COSMIC COSMIC |
6 | g.51748577_51748578delinsTT | CA2739273071 | PKHD1 | c.9038_9039delinsAA (p.Ser3013Ter) c.8909_8910delinsAA (p.Ser2970Ter) c.8900_8901delinsAA (p.Ser2967Ter) c.8396_8397delinsAA (p.Ser2799Ter) c.8327_8328delinsAA (p.Ser2776Ter) c.3113_3114delinsAA (p.Ser1038Ter) c.8963_8964delinsAA (p.Ser2988Ter) c.8843_8844delinsAA (p.Ser2948Ter) c.8774_8775delinsAA (p.Ser2925Ter) c.7178_7179delinsAA (p.Ser2393Ter) n.9314_9315delinsAA | ClinVar |
6 | g.51748578G>A | CA364424104 | PKHD1 | c.9038C>T (p.Ser3013Phe) c.8909C>T (p.Ser2970Phe) c.8900C>T (p.Ser2967Phe) c.8396C>T (p.Ser2799Phe) c.8327C>T (p.Ser2776Phe) c.3113C>T (p.Ser1038Phe) c.8963C>T (p.Ser2988Phe) c.8843C>T (p.Ser2948Phe) c.8774C>T (p.Ser2925Phe) c.7178C>T (p.Ser2393Phe) n.9314C>T | |
6 | g.51748578G>C | CA364424105 | PKHD1 | c.9038C>G (p.Ser3013Cys) c.8909C>G (p.Ser2970Cys) c.8900C>G (p.Ser2967Cys) c.8396C>G (p.Ser2799Cys) c.8327C>G (p.Ser2776Cys) c.3113C>G (p.Ser1038Cys) c.8963C>G (p.Ser2988Cys) c.8843C>G (p.Ser2948Cys) c.8774C>G (p.Ser2925Cys) c.7178C>G (p.Ser2393Cys) n.9314C>G | gnomAD v4 |
6 | g.51748578G= | CA1628503775 | PKHD1 | c.9038C= (p.Ser3013=) c.8909C= (p.Ser2970=) c.8900C= (p.Ser2967=) c.8396C= (p.Ser2799=) c.8327C= (p.Ser2776=) c.3113C= (p.Ser1038=) c.8963C= (p.Ser2988=) c.8843C= (p.Ser2948=) c.8774C= (p.Ser2925=) c.7178C= (p.Ser2393=) n.9314C= | |
6 | g.51748578G>T | CA364424106 | PKHD1 | c.9038C>A (p.Ser3013Tyr) c.8909C>A (p.Ser2970Tyr) c.8900C>A (p.Ser2967Tyr) c.8396C>A (p.Ser2799Tyr) c.8327C>A (p.Ser2776Tyr) c.3113C>A (p.Ser1038Tyr) c.8963C>A (p.Ser2988Tyr) c.8843C>A (p.Ser2948Tyr) c.8774C>A (p.Ser2925Tyr) c.7178C>A (p.Ser2393Tyr) n.9314C>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748579A>C | CA364424107 | PKHD1 | c.9037T>G (p.Ser3013Ala) c.8908T>G (p.Ser2970Ala) c.8899T>G (p.Ser2967Ala) c.8395T>G (p.Ser2799Ala) c.8326T>G (p.Ser2776Ala) c.3112T>G (p.Ser1038Ala) c.8962T>G (p.Ser2988Ala) c.8842T>G (p.Ser2948Ala) c.8773T>G (p.Ser2925Ala) c.7177T>G (p.Ser2393Ala) n.9313T>G | |
6 | g.51748579A>G | CA364424108 | PKHD1 | c.9037T>C (p.Ser3013Pro) c.8908T>C (p.Ser2970Pro) c.8899T>C (p.Ser2967Pro) c.8395T>C (p.Ser2799Pro) c.8326T>C (p.Ser2776Pro) c.3112T>C (p.Ser1038Pro) c.8962T>C (p.Ser2988Pro) c.8842T>C (p.Ser2948Pro) c.8773T>C (p.Ser2925Pro) c.7177T>C (p.Ser2393Pro) n.9313T>C | |
6 | g.51748579A>T | CA364424109 | PKHD1 | c.9037T>A (p.Ser3013Thr) c.8908T>A (p.Ser2970Thr) c.8899T>A (p.Ser2967Thr) c.8395T>A (p.Ser2799Thr) c.8326T>A (p.Ser2776Thr) c.3112T>A (p.Ser1038Thr) c.8962T>A (p.Ser2988Thr) c.8842T>A (p.Ser2948Thr) c.8773T>A (p.Ser2925Thr) c.7177T>A (p.Ser2393Thr) n.9313T>A | |
6 | g.51748580T>A | CA450614030 | PKHD1 | c.9036A>T (p.Gly3012=) c.8907A>T (p.Gly2969=) c.8898A>T (p.Gly2966=) c.8394A>T (p.Gly2798=) c.8325A>T (p.Gly2775=) c.3111A>T (p.Gly1037=) c.8961A>T (p.Gly2987=) c.8841A>T (p.Gly2947=) c.8772A>T (p.Gly2924=) c.7176A>T (p.Gly2392=) n.9312A>T | |
6 | g.51748580T>C | CA450614031 | PKHD1 | c.9036A>G (p.Gly3012=) c.8907A>G (p.Gly2969=) c.8898A>G (p.Gly2966=) c.8394A>G (p.Gly2798=) c.8325A>G (p.Gly2775=) c.3111A>G (p.Gly1037=) c.8961A>G (p.Gly2987=) c.8841A>G (p.Gly2947=) c.8772A>G (p.Gly2924=) c.7176A>G (p.Gly2392=) n.9312A>G | gnomAD v4 |
6 | g.51748580T>G | CA450614032 | PKHD1 | c.9036A>C (p.Gly3012=) c.8907A>C (p.Gly2969=) c.8898A>C (p.Gly2966=) c.8394A>C (p.Gly2798=) c.8325A>C (p.Gly2775=) c.3111A>C (p.Gly1037=) c.8961A>C (p.Gly2987=) c.8841A>C (p.Gly2947=) c.8772A>C (p.Gly2924=) c.7176A>C (p.Gly2392=) n.9312A>C | |
6 | g.51748581C>A | CA364424110 | PKHD1 | c.9035G>T (p.Gly3012Val) c.8906G>T (p.Gly2969Val) c.8897G>T (p.Gly2966Val) c.8393G>T (p.Gly2798Val) c.8324G>T (p.Gly2775Val) c.3110G>T (p.Gly1037Val) c.8960G>T (p.Gly2987Val) c.8840G>T (p.Gly2947Val) c.8771G>T (p.Gly2924Val) c.7175G>T (p.Gly2392Val) n.9311G>T | |
6 | g.51748581C>G | CA364424111 | PKHD1 | c.9035G>C (p.Gly3012Ala) c.8906G>C (p.Gly2969Ala) c.8897G>C (p.Gly2966Ala) c.8393G>C (p.Gly2798Ala) c.8324G>C (p.Gly2775Ala) c.3110G>C (p.Gly1037Ala) c.8960G>C (p.Gly2987Ala) c.8840G>C (p.Gly2947Ala) c.8771G>C (p.Gly2924Ala) c.7175G>C (p.Gly2392Ala) n.9311G>C | |
6 | g.51748581C>T | CA364424115 | PKHD1 | c.9035G>A (p.Gly3012Glu) c.8906G>A (p.Gly2969Glu) c.8897G>A (p.Gly2966Glu) c.8393G>A (p.Gly2798Glu) c.8324G>A (p.Gly2775Glu) c.3110G>A (p.Gly1037Glu) c.8960G>A (p.Gly2987Glu) c.8840G>A (p.Gly2947Glu) c.8771G>A (p.Gly2924Glu) c.7175G>A (p.Gly2392Glu) n.9311G>A | |
6 | g.51748582C>A | CA364424117 | PKHD1 | c.9034G>T (p.Gly3012Ter) c.8905G>T (p.Gly2969Ter) c.8896G>T (p.Gly2966Ter) c.8392G>T (p.Gly2798Ter) c.8323G>T (p.Gly2775Ter) c.3109G>T (p.Gly1037Ter) c.8959G>T (p.Gly2987Ter) c.8839G>T (p.Gly2947Ter) c.8770G>T (p.Gly2924Ter) c.7174G>T (p.Gly2392Ter) n.9310G>T | |
6 | g.51748582C>G | CA364424119 | PKHD1 | c.9034G>C (p.Gly3012Arg) c.8905G>C (p.Gly2969Arg) c.8896G>C (p.Gly2966Arg) c.8392G>C (p.Gly2798Arg) c.8323G>C (p.Gly2775Arg) c.3109G>C (p.Gly1037Arg) c.8959G>C (p.Gly2987Arg) c.8839G>C (p.Gly2947Arg) c.8770G>C (p.Gly2924Arg) c.7174G>C (p.Gly2392Arg) n.9310G>C | |
6 | g.51748582C>T | CA364424121 | PKHD1 | c.9034G>A (p.Gly3012Arg) c.8905G>A (p.Gly2969Arg) c.8896G>A (p.Gly2966Arg) c.8392G>A (p.Gly2798Arg) c.8323G>A (p.Gly2775Arg) c.3109G>A (p.Gly1037Arg) c.8959G>A (p.Gly2987Arg) c.8839G>A (p.Gly2947Arg) c.8770G>A (p.Gly2924Arg) c.7174G>A (p.Gly2392Arg) n.9310G>A | |
6 | g.51748583T>A | CA450614036 | PKHD1 | c.9033A>T (p.Ala3011=) c.8904A>T (p.Ala2968=) c.8895A>T (p.Ala2965=) c.8391A>T (p.Ala2797=) c.8322A>T (p.Ala2774=) c.3108A>T (p.Ala1036=) c.8958A>T (p.Ala2986=) c.8838A>T (p.Ala2946=) c.8769A>T (p.Ala2923=) c.7173A>T (p.Ala2391=) n.9309A>T | |
6 | g.51748583T>C | CA450614038 | PKHD1 | c.9033A>G (p.Ala3011=) c.8904A>G (p.Ala2968=) c.8895A>G (p.Ala2965=) c.8391A>G (p.Ala2797=) c.8322A>G (p.Ala2774=) c.3108A>G (p.Ala1036=) c.8958A>G (p.Ala2986=) c.8838A>G (p.Ala2946=) c.8769A>G (p.Ala2923=) c.7173A>G (p.Ala2391=) n.9309A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748583T>G | CA450614041 | PKHD1 | c.9033A>C (p.Ala3011=) c.8904A>C (p.Ala2968=) c.8895A>C (p.Ala2965=) c.8391A>C (p.Ala2797=) c.8322A>C (p.Ala2774=) c.3108A>C (p.Ala1036=) c.8958A>C (p.Ala2986=) c.8838A>C (p.Ala2946=) c.8769A>C (p.Ala2923=) c.7173A>C (p.Ala2391=) n.9309A>C | |
6 | g.51748583T= | CA1628503778 | PKHD1 | c.9033A= (p.Ala3011=) c.8904A= (p.Ala2968=) c.8895A= (p.Ala2965=) c.8391A= (p.Ala2797=) c.8322A= (p.Ala2774=) c.3108A= (p.Ala1036=) c.8958A= (p.Ala2986=) c.8838A= (p.Ala2946=) c.8769A= (p.Ala2923=) c.7173A= (p.Ala2391=) n.9309A= | |
6 | g.51748584G>A | CA364424123 | PKHD1 | c.9032C>T (p.Ala3011Val) c.8903C>T (p.Ala2968Val) c.8894C>T (p.Ala2965Val) c.8390C>T (p.Ala2797Val) c.8321C>T (p.Ala2774Val) c.3107C>T (p.Ala1036Val) c.8957C>T (p.Ala2986Val) c.8837C>T (p.Ala2946Val) c.8768C>T (p.Ala2923Val) c.7172C>T (p.Ala2391Val) n.9308C>T | COSMIC COSMIC |
6 | g.51748584G>C | CA364424127 | PKHD1 | c.9032C>G (p.Ala3011Gly) c.8903C>G (p.Ala2968Gly) c.8894C>G (p.Ala2965Gly) c.8390C>G (p.Ala2797Gly) c.8321C>G (p.Ala2774Gly) c.3107C>G (p.Ala1036Gly) c.8957C>G (p.Ala2986Gly) c.8837C>G (p.Ala2946Gly) c.8768C>G (p.Ala2923Gly) c.7172C>G (p.Ala2391Gly) n.9308C>G | gnomAD v4 |
6 | g.51748584G>T | CA364424125 | PKHD1 | c.9032C>A (p.Ala3011Glu) c.8903C>A (p.Ala2968Glu) c.8894C>A (p.Ala2965Glu) c.8390C>A (p.Ala2797Glu) c.8321C>A (p.Ala2774Glu) c.3107C>A (p.Ala1036Glu) c.8957C>A (p.Ala2986Glu) c.8837C>A (p.Ala2946Glu) c.8768C>A (p.Ala2923Glu) c.7172C>A (p.Ala2391Glu) n.9308C>A | gnomAD v4 |
6 | g.51748585C>A | CA364424129 | PKHD1 | c.9031G>T (p.Ala3011Ser) c.8902G>T (p.Ala2968Ser) c.8893G>T (p.Ala2965Ser) c.8389G>T (p.Ala2797Ser) c.8320G>T (p.Ala2774Ser) c.3106G>T (p.Ala1036Ser) c.8956G>T (p.Ala2986Ser) c.8836G>T (p.Ala2946Ser) c.8767G>T (p.Ala2923Ser) c.7171G>T (p.Ala2391Ser) n.9307G>T | |
6 | g.51748585C>G | CA364424130 | PKHD1 | c.9031G>C (p.Ala3011Pro) c.8902G>C (p.Ala2968Pro) c.8893G>C (p.Ala2965Pro) c.8389G>C (p.Ala2797Pro) c.8320G>C (p.Ala2774Pro) c.3106G>C (p.Ala1036Pro) c.8956G>C (p.Ala2986Pro) c.8836G>C (p.Ala2946Pro) c.8767G>C (p.Ala2923Pro) c.7171G>C (p.Ala2391Pro) n.9307G>C | |
6 | g.51748585C>T | CA364424132 | PKHD1 | c.9031G>A (p.Ala3011Thr) c.8902G>A (p.Ala2968Thr) c.8893G>A (p.Ala2965Thr) c.8389G>A (p.Ala2797Thr) c.8320G>A (p.Ala2774Thr) c.3106G>A (p.Ala1036Thr) c.8956G>A (p.Ala2986Thr) c.8836G>A (p.Ala2946Thr) c.8767G>A (p.Ala2923Thr) c.7171G>A (p.Ala2391Thr) n.9307G>A | COSMIC COSMIC |
6 | g.51748585_51748586insAGGT | CA2679078642 | PKHD1 | c.9030_9031insACCT (p.Ala3011ThrfsTer31) c.8901_8902insACCT (p.Ala2968ThrfsTer31) c.8892_8893insACCT (p.Ala2965ThrfsTer31) c.8388_8389insACCT (p.Ala2797ThrfsTer31) c.8319_8320insACCT (p.Ala2774ThrfsTer31) c.3105_3106insACCT (p.Ala1036ThrfsTer31) c.8955_8956insACCT (p.Ala2986ThrfsTer31) c.8835_8836insACCT (p.Ala2946ThrfsTer31) c.8766_8767insACCT (p.Ala2923ThrfsTer31) c.7170_7171insACCT (p.Ala2391ThrfsTer31) n.9306_9307insACCT | gnomAD v4 |
6 | g.51748586T>A | CA450614045 | PKHD1 | c.9030A>T (p.Ser3010=) c.8901A>T (p.Ser2967=) c.8892A>T (p.Ser2964=) c.8388A>T (p.Ser2796=) c.8319A>T (p.Ser2773=) c.3105A>T (p.Ser1035=) c.8955A>T (p.Ser2985=) c.8835A>T (p.Ser2945=) c.8766A>T (p.Ser2922=) c.7170A>T (p.Ser2390=) n.9306A>T | gnomAD v4 |
6 | g.51748586T>C | CA450614051 | PKHD1 | c.9030A>G (p.Ser3010=) c.8901A>G (p.Ser2967=) c.8892A>G (p.Ser2964=) c.8388A>G (p.Ser2796=) c.8319A>G (p.Ser2773=) c.3105A>G (p.Ser1035=) c.8955A>G (p.Ser2985=) c.8835A>G (p.Ser2945=) c.8766A>G (p.Ser2922=) c.7170A>G (p.Ser2390=) n.9306A>G | ClinVar dbSNP |
6 | g.51748586T>G | CA450614053 | PKHD1 | c.9030A>C (p.Ser3010=) c.8901A>C (p.Ser2967=) c.8892A>C (p.Ser2964=) c.8388A>C (p.Ser2796=) c.8319A>C (p.Ser2773=) c.3105A>C (p.Ser1035=) c.8955A>C (p.Ser2985=) c.8835A>C (p.Ser2945=) c.8766A>C (p.Ser2922=) c.7170A>C (p.Ser2390=) n.9306A>C | |
6 | g.51748586T= | CA1628503791 | PKHD1 | c.9030A= (p.Ser3010=) c.8901A= (p.Ser2967=) c.8892A= (p.Ser2964=) c.8388A= (p.Ser2796=) c.8319A= (p.Ser2773=) c.3105A= (p.Ser1035=) c.8955A= (p.Ser2985=) c.8835A= (p.Ser2945=) c.8766A= (p.Ser2922=) c.7170A= (p.Ser2390=) n.9306A= | |
6 | g.51748587G>A | CA364424133 | PKHD1 | c.9029C>T (p.Ser3010Leu) c.8900C>T (p.Ser2967Leu) c.8891C>T (p.Ser2964Leu) c.8387C>T (p.Ser2796Leu) c.8318C>T (p.Ser2773Leu) c.3104C>T (p.Ser1035Leu) c.8954C>T (p.Ser2985Leu) c.8834C>T (p.Ser2945Leu) c.8765C>T (p.Ser2922Leu) c.7169C>T (p.Ser2390Leu) n.9305C>T | |
6 | g.51748587G>C | CA364424134 | PKHD1 | c.9029C>G (p.Ser3010Ter) c.8900C>G (p.Ser2967Ter) c.8891C>G (p.Ser2964Ter) c.8387C>G (p.Ser2796Ter) c.8318C>G (p.Ser2773Ter) c.3104C>G (p.Ser1035Ter) c.8954C>G (p.Ser2985Ter) c.8834C>G (p.Ser2945Ter) c.8765C>G (p.Ser2922Ter) c.7169C>G (p.Ser2390Ter) n.9305C>G | |
6 | g.51748587G>T | CA364424136 | PKHD1 | c.9029C>A (p.Ser3010Ter) c.8900C>A (p.Ser2967Ter) c.8891C>A (p.Ser2964Ter) c.8387C>A (p.Ser2796Ter) c.8318C>A (p.Ser2773Ter) c.3104C>A (p.Ser1035Ter) c.8954C>A (p.Ser2985Ter) c.8834C>A (p.Ser2945Ter) c.8765C>A (p.Ser2922Ter) c.7169C>A (p.Ser2390Ter) n.9305C>A | |
6 | g.51748587_51748588insGACAGCAAGCACTAGACCACAATGT | CA2679078643 | PKHD1 | c.9028_9029insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser3010TyrfsTer5) c.8899_8900insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2967TyrfsTer5) c.8890_8891insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2964TyrfsTer5) c.8386_8387insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2796TyrfsTer5) c.8317_8318insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2773TyrfsTer5) c.3103_3104insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser1035TyrfsTer5) c.8953_8954insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2985TyrfsTer5) c.8833_8834insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2945TyrfsTer5) c.8764_8765insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2922TyrfsTer5) c.7168_7169insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2390TyrfsTer5) n.9304_9305insACATTGTGGTCTAGTGCTTGCTGTC | gnomAD v4 |
6 | g.51748588A>C | CA364424139 | PKHD1 | c.9028T>G (p.Ser3010Ala) c.8899T>G (p.Ser2967Ala) c.8890T>G (p.Ser2964Ala) c.8386T>G (p.Ser2796Ala) c.8317T>G (p.Ser2773Ala) c.3103T>G (p.Ser1035Ala) c.8953T>G (p.Ser2985Ala) c.8833T>G (p.Ser2945Ala) c.8764T>G (p.Ser2922Ala) c.7168T>G (p.Ser2390Ala) n.9304T>G | |
6 | g.51748588A>G | CA364424140 | PKHD1 | c.9028T>C (p.Ser3010Pro) c.8899T>C (p.Ser2967Pro) c.8890T>C (p.Ser2964Pro) c.8386T>C (p.Ser2796Pro) c.8317T>C (p.Ser2773Pro) c.3103T>C (p.Ser1035Pro) c.8953T>C (p.Ser2985Pro) c.8833T>C (p.Ser2945Pro) c.8764T>C (p.Ser2922Pro) c.7168T>C (p.Ser2390Pro) n.9304T>C | |
6 | g.51748588A>T | CA364424141 | PKHD1 | c.9028T>A (p.Ser3010Thr) c.8899T>A (p.Ser2967Thr) c.8890T>A (p.Ser2964Thr) c.8386T>A (p.Ser2796Thr) c.8317T>A (p.Ser2773Thr) c.3103T>A (p.Ser1035Thr) c.8953T>A (p.Ser2985Thr) c.8833T>A (p.Ser2945Thr) c.8764T>A (p.Ser2922Thr) c.7168T>A (p.Ser2390Thr) n.9304T>A | |
6 | g.51748589C>A | CA450614060 | PKHD1 | c.9027G>T (p.Val3009=) c.8898G>T (p.Val2966=) c.8889G>T (p.Val2963=) c.8385G>T (p.Val2795=) c.8316G>T (p.Val2772=) c.3102G>T (p.Val1034=) c.8952G>T (p.Val2984=) c.8832G>T (p.Val2944=) c.8763G>T (p.Val2921=) c.7167G>T (p.Val2389=) n.9303G>T | ClinVar dbSNP |
6 | g.51748589C= | CA1628503797 | PKHD1 | c.9027G= (p.Val3009=) c.8898G= (p.Val2966=) c.8889G= (p.Val2963=) c.8385G= (p.Val2795=) c.8316G= (p.Val2772=) c.3102G= (p.Val1034=) c.8952G= (p.Val2984=) c.8832G= (p.Val2944=) c.8763G= (p.Val2921=) c.7167G= (p.Val2389=) n.9303G= | |
6 | g.51748589C>G | CA450614058 | PKHD1 | c.9027G>C (p.Val3009=) c.8898G>C (p.Val2966=) c.8889G>C (p.Val2963=) c.8385G>C (p.Val2795=) c.8316G>C (p.Val2772=) c.3102G>C (p.Val1034=) c.8952G>C (p.Val2984=) c.8832G>C (p.Val2944=) c.8763G>C (p.Val2921=) c.7167G>C (p.Val2389=) n.9303G>C | |
6 | g.51748589C>T | CA450614056 | PKHD1 | c.9027G>A (p.Val3009=) c.8898G>A (p.Val2966=) c.8889G>A (p.Val2963=) c.8385G>A (p.Val2795=) c.8316G>A (p.Val2772=) c.3102G>A (p.Val1034=) c.8952G>A (p.Val2984=) c.8832G>A (p.Val2944=) c.8763G>A (p.Val2921=) c.7167G>A (p.Val2389=) n.9303G>A | ClinVar gnomAD v4 |
6 | g.51748590A>C | CA364424144 | PKHD1 | c.9026T>G (p.Val3009Gly) c.8897T>G (p.Val2966Gly) c.8888T>G (p.Val2963Gly) c.8384T>G (p.Val2795Gly) c.8315T>G (p.Val2772Gly) c.3101T>G (p.Val1034Gly) c.8951T>G (p.Val2984Gly) c.8831T>G (p.Val2944Gly) c.8762T>G (p.Val2921Gly) c.7166T>G (p.Val2389Gly) n.9302T>G | |
6 | g.51748590A>G | CA364424145 | PKHD1 | c.9026T>C (p.Val3009Ala) c.8897T>C (p.Val2966Ala) c.8888T>C (p.Val2963Ala) c.8384T>C (p.Val2795Ala) c.8315T>C (p.Val2772Ala) c.3101T>C (p.Val1034Ala) c.8951T>C (p.Val2984Ala) c.8831T>C (p.Val2944Ala) c.8762T>C (p.Val2921Ala) c.7166T>C (p.Val2389Ala) n.9302T>C | |
6 | g.51748590A>T | CA364424147 | PKHD1 | c.9026T>A (p.Val3009Glu) c.8897T>A (p.Val2966Glu) c.8888T>A (p.Val2963Glu) c.8384T>A (p.Val2795Glu) c.8315T>A (p.Val2772Glu) c.3101T>A (p.Val1034Glu) c.8951T>A (p.Val2984Glu) c.8831T>A (p.Val2944Glu) c.8762T>A (p.Val2921Glu) c.7166T>A (p.Val2389Glu) n.9302T>A | |
6 | g.51748591C>A | CA364424149 | PKHD1 | c.9025G>T (p.Val3009Leu) c.8896G>T (p.Val2966Leu) c.8887G>T (p.Val2963Leu) c.8383G>T (p.Val2795Leu) c.8314G>T (p.Val2772Leu) c.3100G>T (p.Val1034Leu) c.8950G>T (p.Val2984Leu) c.8830G>T (p.Val2944Leu) c.8761G>T (p.Val2921Leu) c.7165G>T (p.Val2389Leu) n.9301G>T | |
6 | g.51748591C= | CA1628503805 | PKHD1 | c.9025G= (p.Val3009=) c.8896G= (p.Val2966=) c.8887G= (p.Val2963=) c.8383G= (p.Val2795=) c.8314G= (p.Val2772=) c.3100G= (p.Val1034=) c.8950G= (p.Val2984=) c.8830G= (p.Val2944=) c.8761G= (p.Val2921=) c.7165G= (p.Val2389=) n.9301G= | |
6 | g.51748591C>G | CA364424150 | PKHD1 | c.9025G>C (p.Val3009Leu) c.8896G>C (p.Val2966Leu) c.8887G>C (p.Val2963Leu) c.8383G>C (p.Val2795Leu) c.8314G>C (p.Val2772Leu) c.3100G>C (p.Val1034Leu) c.8950G>C (p.Val2984Leu) c.8830G>C (p.Val2944Leu) c.8761G>C (p.Val2921Leu) c.7165G>C (p.Val2389Leu) n.9301G>C | |
6 | g.51748591C>T | CA3851457 | PKHD1 | c.9025G>A (p.Val3009Met) c.8896G>A (p.Val2966Met) c.8887G>A (p.Val2963Met) c.8383G>A (p.Val2795Met) c.8314G>A (p.Val2772Met) c.3100G>A (p.Val1034Met) c.8950G>A (p.Val2984Met) c.8830G>A (p.Val2944Met) c.8761G>A (p.Val2921Met) c.7165G>A (p.Val2389Met) n.9301G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748592A>C | CA364424152 | PKHD1 | c.9024T>G (p.Asn3008Lys) c.8895T>G (p.Asn2965Lys) c.8886T>G (p.Asn2962Lys) c.8382T>G (p.Asn2794Lys) c.8313T>G (p.Asn2771Lys) c.3099T>G (p.Asn1033Lys) c.8949T>G (p.Asn2983Lys) c.8829T>G (p.Asn2943Lys) c.8760T>G (p.Asn2920Lys) c.7164T>G (p.Asn2388Lys) n.9300T>G | |
6 | g.51748592A>G | CA450614070 | PKHD1 | c.9024T>C (p.Asn3008=) c.8895T>C (p.Asn2965=) c.8886T>C (p.Asn2962=) c.8382T>C (p.Asn2794=) c.8313T>C (p.Asn2771=) c.3099T>C (p.Asn1033=) c.8949T>C (p.Asn2983=) c.8829T>C (p.Asn2943=) c.8760T>C (p.Asn2920=) c.7164T>C (p.Asn2388=) n.9300T>C | gnomAD v4 |
6 | g.51748592A>T | CA364424154 | PKHD1 | c.9024T>A (p.Asn3008Lys) c.8895T>A (p.Asn2965Lys) c.8886T>A (p.Asn2962Lys) c.8382T>A (p.Asn2794Lys) c.8313T>A (p.Asn2771Lys) c.3099T>A (p.Asn1033Lys) c.8949T>A (p.Asn2983Lys) c.8829T>A (p.Asn2943Lys) c.8760T>A (p.Asn2920Lys) c.7164T>A (p.Asn2388Lys) n.9300T>A | |
6 | g.51748593T>A | CA364424156 | PKHD1 | c.9023A>T (p.Asn3008Ile) c.8894A>T (p.Asn2965Ile) c.8885A>T (p.Asn2962Ile) c.8381A>T (p.Asn2794Ile) c.8312A>T (p.Asn2771Ile) c.3098A>T (p.Asn1033Ile) c.8948A>T (p.Asn2983Ile) c.8828A>T (p.Asn2943Ile) c.8759A>T (p.Asn2920Ile) c.7163A>T (p.Asn2388Ile) n.9299A>T | |
6 | g.51748593T>C | CA364424158 | PKHD1 | c.9023A>G (p.Asn3008Ser) c.8894A>G (p.Asn2965Ser) c.8885A>G (p.Asn2962Ser) c.8381A>G (p.Asn2794Ser) c.8312A>G (p.Asn2771Ser) c.3098A>G (p.Asn1033Ser) c.8948A>G (p.Asn2983Ser) c.8828A>G (p.Asn2943Ser) c.8759A>G (p.Asn2920Ser) c.7163A>G (p.Asn2388Ser) n.9299A>G | |
6 | g.51748593T>G | CA364424160 | PKHD1 | c.9023A>C (p.Asn3008Thr) c.8894A>C (p.Asn2965Thr) c.8885A>C (p.Asn2962Thr) c.8381A>C (p.Asn2794Thr) c.8312A>C (p.Asn2771Thr) c.3098A>C (p.Asn1033Thr) c.8948A>C (p.Asn2983Thr) c.8828A>C (p.Asn2943Thr) c.8759A>C (p.Asn2920Thr) c.7163A>C (p.Asn2388Thr) n.9299A>C | |
6 | g.51748594T>A | CA364424166 | PKHD1 | c.9022A>T (p.Asn3008Tyr) c.8893A>T (p.Asn2965Tyr) c.8884A>T (p.Asn2962Tyr) c.8380A>T (p.Asn2794Tyr) c.8311A>T (p.Asn2771Tyr) c.3097A>T (p.Asn1033Tyr) c.8947A>T (p.Asn2983Tyr) c.8827A>T (p.Asn2943Tyr) c.8758A>T (p.Asn2920Tyr) c.7162A>T (p.Asn2388Tyr) n.9298A>T | |
6 | g.51748594T>C | CA364424162 | PKHD1 | c.9022A>G (p.Asn3008Asp) c.8893A>G (p.Asn2965Asp) c.8884A>G (p.Asn2962Asp) c.8380A>G (p.Asn2794Asp) c.8311A>G (p.Asn2771Asp) c.3097A>G (p.Asn1033Asp) c.8947A>G (p.Asn2983Asp) c.8827A>G (p.Asn2943Asp) c.8758A>G (p.Asn2920Asp) c.7162A>G (p.Asn2388Asp) n.9298A>G | |
6 | g.51748594T>G | CA364424164 | PKHD1 | c.9022A>C (p.Asn3008His) c.8893A>C (p.Asn2965His) c.8884A>C (p.Asn2962His) c.8380A>C (p.Asn2794His) c.8311A>C (p.Asn2771His) c.3097A>C (p.Asn1033His) c.8947A>C (p.Asn2983His) c.8827A>C (p.Asn2943His) c.8758A>C (p.Asn2920His) c.7162A>C (p.Asn2388His) n.9298A>C | |
6 | g.51748595A>C | CA364424168 | PKHD1 | c.9021T>G (p.Ser3007Arg) c.8892T>G (p.Ser2964Arg) c.8883T>G (p.Ser2961Arg) c.8379T>G (p.Ser2793Arg) c.8310T>G (p.Ser2770Arg) c.3096T>G (p.Ser1032Arg) c.8946T>G (p.Ser2982Arg) c.8826T>G (p.Ser2942Arg) c.8757T>G (p.Ser2919Arg) c.7161T>G (p.Ser2387Arg) n.9297T>G | |
6 | g.51748595A>G | CA450614082 | PKHD1 | c.9021T>C (p.Ser3007=) c.8892T>C (p.Ser2964=) c.8883T>C (p.Ser2961=) c.8379T>C (p.Ser2793=) c.8310T>C (p.Ser2770=) c.3096T>C (p.Ser1032=) c.8946T>C (p.Ser2982=) c.8826T>C (p.Ser2942=) c.8757T>C (p.Ser2919=) c.7161T>C (p.Ser2387=) n.9297T>C | |
6 | g.51748595A>T | CA364424170 | PKHD1 | c.9021T>A (p.Ser3007Arg) c.8892T>A (p.Ser2964Arg) c.8883T>A (p.Ser2961Arg) c.8379T>A (p.Ser2793Arg) c.8310T>A (p.Ser2770Arg) c.3096T>A (p.Ser1032Arg) c.8946T>A (p.Ser2982Arg) c.8826T>A (p.Ser2942Arg) c.8757T>A (p.Ser2919Arg) c.7161T>A (p.Ser2387Arg) n.9297T>A | |
6 | g.51748596C>A | CA364424173 | PKHD1 | c.9020G>T (p.Ser3007Ile) c.8891G>T (p.Ser2964Ile) c.8882G>T (p.Ser2961Ile) c.8378G>T (p.Ser2793Ile) c.8309G>T (p.Ser2770Ile) c.3095G>T (p.Ser1032Ile) c.8945G>T (p.Ser2982Ile) c.8825G>T (p.Ser2942Ile) c.8756G>T (p.Ser2919Ile) c.7160G>T (p.Ser2387Ile) n.9296G>T | |
6 | g.51748596C>G | CA364424175 | PKHD1 | c.9020G>C (p.Ser3007Thr) c.8891G>C (p.Ser2964Thr) c.8882G>C (p.Ser2961Thr) c.8378G>C (p.Ser2793Thr) c.8309G>C (p.Ser2770Thr) c.3095G>C (p.Ser1032Thr) c.8945G>C (p.Ser2982Thr) c.8825G>C (p.Ser2942Thr) c.8756G>C (p.Ser2919Thr) c.7160G>C (p.Ser2387Thr) n.9296G>C | |
6 | g.51748596C>T | CA364424176 | PKHD1 | c.9020G>A (p.Ser3007Asn) c.8891G>A (p.Ser2964Asn) c.8882G>A (p.Ser2961Asn) c.8378G>A (p.Ser2793Asn) c.8309G>A (p.Ser2770Asn) c.3095G>A (p.Ser1032Asn) c.8945G>A (p.Ser2982Asn) c.8825G>A (p.Ser2942Asn) c.8756G>A (p.Ser2919Asn) c.7160G>A (p.Ser2387Asn) n.9296G>A | |
6 | g.51748597T>A | CA364424178 | PKHD1 | c.9019A>T (p.Ser3007Cys) c.8890A>T (p.Ser2964Cys) c.8881A>T (p.Ser2961Cys) c.8377A>T (p.Ser2793Cys) c.8308A>T (p.Ser2770Cys) c.3094A>T (p.Ser1032Cys) c.8944A>T (p.Ser2982Cys) c.8824A>T (p.Ser2942Cys) c.8755A>T (p.Ser2919Cys) c.7159A>T (p.Ser2387Cys) n.9295A>T | |
6 | g.51748597T>C | CA364424181 | PKHD1 | c.9019A>G (p.Ser3007Gly) c.8890A>G (p.Ser2964Gly) c.8881A>G (p.Ser2961Gly) c.8377A>G (p.Ser2793Gly) c.8308A>G (p.Ser2770Gly) c.3094A>G (p.Ser1032Gly) c.8944A>G (p.Ser2982Gly) c.8824A>G (p.Ser2942Gly) c.8755A>G (p.Ser2919Gly) c.7159A>G (p.Ser2387Gly) n.9295A>G | |
6 | g.51748597T>G | CA364424180 | PKHD1 | c.9019A>C (p.Ser3007Arg) c.8890A>C (p.Ser2964Arg) c.8881A>C (p.Ser2961Arg) c.8377A>C (p.Ser2793Arg) c.8308A>C (p.Ser2770Arg) c.3094A>C (p.Ser1032Arg) c.8944A>C (p.Ser2982Arg) c.8824A>C (p.Ser2942Arg) c.8755A>C (p.Ser2919Arg) c.7159A>C (p.Ser2387Arg) n.9295A>C |