| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51753219del | CA2697553406 | PKHD1 | c.8932del (p.Ser2978AlafsTer?) c.8803del (p.Ser2935AlafsTer?) c.8794del (p.Ser2932AlafsTer?) c.8290del (p.Ser2764AlafsTer?) c.8221del (p.Ser2741AlafsTer?) c.3007del (p.Ser1003AlafsTer?) c.8857del (p.Ser2953AlafsTer?) c.8737del (p.Ser2913AlafsTer?) c.8668del (p.Ser2890AlafsTer?) c.7072del (p.Ser2358AlafsTer?) n.9208del | ClinVar |
| 6 | g.51753219T>A | CA364426576 | PKHD1 | c.8932A>T (p.Ser2978Cys) c.8803A>T (p.Ser2935Cys) c.8794A>T (p.Ser2932Cys) c.8290A>T (p.Ser2764Cys) c.8221A>T (p.Ser2741Cys) c.3007A>T (p.Ser1003Cys) c.8857A>T (p.Ser2953Cys) c.8737A>T (p.Ser2913Cys) c.8668A>T (p.Ser2890Cys) c.7072A>T (p.Ser2358Cys) n.9208A>T | |
| 6 | g.51753219T>C | CA364426572 | PKHD1 | c.8932A>G (p.Ser2978Gly) c.8803A>G (p.Ser2935Gly) c.8794A>G (p.Ser2932Gly) c.8290A>G (p.Ser2764Gly) c.8221A>G (p.Ser2741Gly) c.3007A>G (p.Ser1003Gly) c.8857A>G (p.Ser2953Gly) c.8737A>G (p.Ser2913Gly) c.8668A>G (p.Ser2890Gly) c.7072A>G (p.Ser2358Gly) n.9208A>G | |
| 6 | g.51753219T>G | CA364426570 | PKHD1 | c.8932A>C (p.Ser2978Arg) c.8803A>C (p.Ser2935Arg) c.8794A>C (p.Ser2932Arg) c.8290A>C (p.Ser2764Arg) c.8221A>C (p.Ser2741Arg) c.3007A>C (p.Ser1003Arg) c.8857A>C (p.Ser2953Arg) c.8737A>C (p.Ser2913Arg) c.8668A>C (p.Ser2890Arg) c.7072A>C (p.Ser2358Arg) n.9208A>C | |
| 6 | g.51753220G>A | CA450412550 | PKHD1 | c.8931C>T (p.Ser2977=) c.8802C>T (p.Ser2934=) c.8793C>T (p.Ser2931=) c.8289C>T (p.Ser2763=) c.8220C>T (p.Ser2740=) c.3006C>T (p.Ser1002=) c.8856C>T (p.Ser2952=) c.8736C>T (p.Ser2912=) c.8667C>T (p.Ser2889=) c.7071C>T (p.Ser2357=) n.9207C>T | |
| 6 | g.51753220G>C | CA450412549 | PKHD1 | c.8931C>G (p.Ser2977=) c.8802C>G (p.Ser2934=) c.8793C>G (p.Ser2931=) c.8289C>G (p.Ser2763=) c.8220C>G (p.Ser2740=) c.3006C>G (p.Ser1002=) c.8856C>G (p.Ser2952=) c.8736C>G (p.Ser2912=) c.8667C>G (p.Ser2889=) c.7071C>G (p.Ser2357=) n.9207C>G | |
| 6 | g.51753220G>T | CA450412548 | PKHD1 | c.8931C>A (p.Ser2977=) c.8802C>A (p.Ser2934=) c.8793C>A (p.Ser2931=) c.8289C>A (p.Ser2763=) c.8220C>A (p.Ser2740=) c.3006C>A (p.Ser1002=) c.8856C>A (p.Ser2952=) c.8736C>A (p.Ser2912=) c.8667C>A (p.Ser2889=) c.7071C>A (p.Ser2357=) n.9207C>A | |
| 6 | g.51753221G>A | CA364426580 | PKHD1 | c.8930C>T (p.Ser2977Phe) c.8801C>T (p.Ser2934Phe) c.8792C>T (p.Ser2931Phe) c.8288C>T (p.Ser2763Phe) c.8219C>T (p.Ser2740Phe) c.3005C>T (p.Ser1002Phe) c.8855C>T (p.Ser2952Phe) c.8735C>T (p.Ser2912Phe) c.8666C>T (p.Ser2889Phe) c.7070C>T (p.Ser2357Phe) n.9206C>T | |
| 6 | g.51753221G>C | CA364426592 | PKHD1 | c.8930C>G (p.Ser2977Cys) c.8801C>G (p.Ser2934Cys) c.8792C>G (p.Ser2931Cys) c.8288C>G (p.Ser2763Cys) c.8219C>G (p.Ser2740Cys) c.3005C>G (p.Ser1002Cys) c.8855C>G (p.Ser2952Cys) c.8735C>G (p.Ser2912Cys) c.8666C>G (p.Ser2889Cys) c.7070C>G (p.Ser2357Cys) n.9206C>G | |
| 6 | g.51753221G>T | CA364426589 | PKHD1 | c.8930C>A (p.Ser2977Tyr) c.8801C>A (p.Ser2934Tyr) c.8792C>A (p.Ser2931Tyr) c.8288C>A (p.Ser2763Tyr) c.8219C>A (p.Ser2740Tyr) c.3005C>A (p.Ser1002Tyr) c.8855C>A (p.Ser2952Tyr) c.8735C>A (p.Ser2912Tyr) c.8666C>A (p.Ser2889Tyr) c.7070C>A (p.Ser2357Tyr) n.9206C>A | |
| 6 | g.51753222A>C | CA364426601 | PKHD1 | c.8929T>G (p.Ser2977Ala) c.8800T>G (p.Ser2934Ala) c.8791T>G (p.Ser2931Ala) c.8287T>G (p.Ser2763Ala) c.8218T>G (p.Ser2740Ala) c.3004T>G (p.Ser1002Ala) c.8854T>G (p.Ser2952Ala) c.8734T>G (p.Ser2912Ala) c.8665T>G (p.Ser2889Ala) c.7069T>G (p.Ser2357Ala) n.9205T>G | |
| 6 | g.51753222A>G | CA364426611 | PKHD1 | c.8929T>C (p.Ser2977Pro) c.8800T>C (p.Ser2934Pro) c.8791T>C (p.Ser2931Pro) c.8287T>C (p.Ser2763Pro) c.8218T>C (p.Ser2740Pro) c.3004T>C (p.Ser1002Pro) c.8854T>C (p.Ser2952Pro) c.8734T>C (p.Ser2912Pro) c.8665T>C (p.Ser2889Pro) c.7069T>C (p.Ser2357Pro) n.9205T>C | |
| 6 | g.51753222A>T | CA364426605 | PKHD1 | c.8929T>A (p.Ser2977Thr) c.8800T>A (p.Ser2934Thr) c.8791T>A (p.Ser2931Thr) c.8287T>A (p.Ser2763Thr) c.8218T>A (p.Ser2740Thr) c.3004T>A (p.Ser1002Thr) c.8854T>A (p.Ser2952Thr) c.8734T>A (p.Ser2912Thr) c.8665T>A (p.Ser2889Thr) c.7069T>A (p.Ser2357Thr) n.9205T>A | |
| 6 | g.51753223C>A | CA364426614 | PKHD1 | c.8928G>T (p.Lys2976Asn) c.8799G>T (p.Lys2933Asn) c.8790G>T (p.Lys2930Asn) c.8286G>T (p.Lys2762Asn) c.8217G>T (p.Lys2739Asn) c.3003G>T (p.Lys1001Asn) c.8853G>T (p.Lys2951Asn) c.8733G>T (p.Lys2911Asn) c.8664G>T (p.Lys2888Asn) c.7068G>T (p.Lys2356Asn) n.9204G>T | |
| 6 | g.51753223C>G | CA364426615 | PKHD1 | c.8928G>C (p.Lys2976Asn) c.8799G>C (p.Lys2933Asn) c.8790G>C (p.Lys2930Asn) c.8286G>C (p.Lys2762Asn) c.8217G>C (p.Lys2739Asn) c.3003G>C (p.Lys1001Asn) c.8853G>C (p.Lys2951Asn) c.8733G>C (p.Lys2911Asn) c.8664G>C (p.Lys2888Asn) c.7068G>C (p.Lys2356Asn) n.9204G>C | |
| 6 | g.51753223C>T | CA450412552 | PKHD1 | c.8928G>A (p.Lys2976=) c.8799G>A (p.Lys2933=) c.8790G>A (p.Lys2930=) c.8286G>A (p.Lys2762=) c.8217G>A (p.Lys2739=) c.3003G>A (p.Lys1001=) c.8853G>A (p.Lys2951=) c.8733G>A (p.Lys2911=) c.8664G>A (p.Lys2888=) c.7068G>A (p.Lys2356=) n.9204G>A | |
| 6 | g.51753224T>A | CA364426617 | PKHD1 | c.8927A>T (p.Lys2976Met) c.8798A>T (p.Lys2933Met) c.8789A>T (p.Lys2930Met) c.8285A>T (p.Lys2762Met) c.8216A>T (p.Lys2739Met) c.3002A>T (p.Lys1001Met) c.8852A>T (p.Lys2951Met) c.8732A>T (p.Lys2911Met) c.8663A>T (p.Lys2888Met) c.7067A>T (p.Lys2356Met) n.9203A>T | |
| 6 | g.51753224T>C | CA3851492 | PKHD1 | c.8927A>G (p.Lys2976Arg) c.8798A>G (p.Lys2933Arg) c.8789A>G (p.Lys2930Arg) c.8285A>G (p.Lys2762Arg) c.8216A>G (p.Lys2739Arg) c.3002A>G (p.Lys1001Arg) c.8852A>G (p.Lys2951Arg) c.8732A>G (p.Lys2911Arg) c.8663A>G (p.Lys2888Arg) c.7067A>G (p.Lys2356Arg) n.9203A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.51753224T>G | CA364426629 | PKHD1 | c.8927A>C (p.Lys2976Thr) c.8798A>C (p.Lys2933Thr) c.8789A>C (p.Lys2930Thr) c.8285A>C (p.Lys2762Thr) c.8216A>C (p.Lys2739Thr) c.3002A>C (p.Lys1001Thr) c.8852A>C (p.Lys2951Thr) c.8732A>C (p.Lys2911Thr) c.8663A>C (p.Lys2888Thr) c.7067A>C (p.Lys2356Thr) n.9203A>C | |
| 6 | g.51753224T= | CA1628509922 | PKHD1 | c.8927A= (p.Lys2976=) c.8798A= (p.Lys2933=) c.8789A= (p.Lys2930=) c.8285A= (p.Lys2762=) c.8216A= (p.Lys2739=) c.3002A= (p.Lys1001=) c.8852A= (p.Lys2951=) c.8732A= (p.Lys2911=) c.8663A= (p.Lys2888=) c.7067A= (p.Lys2356=) n.9203A= | |
| 6 | g.51753225T>A | CA364426632 | PKHD1 | c.8926A>T (p.Lys2976Ter) c.8797A>T (p.Lys2933Ter) c.8788A>T (p.Lys2930Ter) c.8284A>T (p.Lys2762Ter) c.8215A>T (p.Lys2739Ter) c.3001A>T (p.Lys1001Ter) c.8851A>T (p.Lys2951Ter) c.8731A>T (p.Lys2911Ter) c.8662A>T (p.Lys2888Ter) c.7066A>T (p.Lys2356Ter) n.9202A>T | ClinVar |
| 6 | g.51753225T>C | CA364426634 | PKHD1 | c.8926A>G (p.Lys2976Glu) c.8797A>G (p.Lys2933Glu) c.8788A>G (p.Lys2930Glu) c.8284A>G (p.Lys2762Glu) c.8215A>G (p.Lys2739Glu) c.3001A>G (p.Lys1001Glu) c.8851A>G (p.Lys2951Glu) c.8731A>G (p.Lys2911Glu) c.8662A>G (p.Lys2888Glu) c.7066A>G (p.Lys2356Glu) n.9202A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51753225T>G | CA364426640 | PKHD1 | c.8926A>C (p.Lys2976Gln) c.8797A>C (p.Lys2933Gln) c.8788A>C (p.Lys2930Gln) c.8284A>C (p.Lys2762Gln) c.8215A>C (p.Lys2739Gln) c.3001A>C (p.Lys1001Gln) c.8851A>C (p.Lys2951Gln) c.8731A>C (p.Lys2911Gln) c.8662A>C (p.Lys2888Gln) c.7066A>C (p.Lys2356Gln) n.9202A>C | |
| 6 | g.51753225T= | CA1628509929 | PKHD1 | c.8926A= (p.Lys2976=) c.8797A= (p.Lys2933=) c.8788A= (p.Lys2930=) c.8284A= (p.Lys2762=) c.8215A= (p.Lys2739=) c.3001A= (p.Lys1001=) c.8851A= (p.Lys2951=) c.8731A= (p.Lys2911=) c.8662A= (p.Lys2888=) c.7066A= (p.Lys2356=) n.9202A= | |
| 6 | g.51753226C>A | CA364426644 | PKHD1 | c.8925G>T (p.Arg2975Ser) c.8796G>T (p.Arg2932Ser) c.8787G>T (p.Arg2929Ser) c.8283G>T (p.Arg2761Ser) c.8214G>T (p.Arg2738Ser) c.3000G>T (p.Arg1000Ser) c.8850G>T (p.Arg2950Ser) c.8730G>T (p.Arg2910Ser) c.8661G>T (p.Arg2887Ser) c.7065G>T (p.Arg2355Ser) n.9201G>T | |
| 6 | g.51753226C= | CA1628509936 | PKHD1 | c.8925G= (p.Arg2975=) c.8796G= (p.Arg2932=) c.8787G= (p.Arg2929=) c.8283G= (p.Arg2761=) c.8214G= (p.Arg2738=) c.3000G= (p.Arg1000=) c.8850G= (p.Arg2950=) c.8730G= (p.Arg2910=) c.8661G= (p.Arg2887=) c.7065G= (p.Arg2355=) n.9201G= | |
| 6 | g.51753226C>G | CA364426646 | PKHD1 | c.8925G>C (p.Arg2975Ser) c.8796G>C (p.Arg2932Ser) c.8787G>C (p.Arg2929Ser) c.8283G>C (p.Arg2761Ser) c.8214G>C (p.Arg2738Ser) c.3000G>C (p.Arg1000Ser) c.8850G>C (p.Arg2950Ser) c.8730G>C (p.Arg2910Ser) c.8661G>C (p.Arg2887Ser) c.7065G>C (p.Arg2355Ser) n.9201G>C | |
| 6 | g.51753226C>T | CA450412556 | PKHD1 | c.8925G>A (p.Arg2975=) c.8796G>A (p.Arg2932=) c.8787G>A (p.Arg2929=) c.8283G>A (p.Arg2761=) c.8214G>A (p.Arg2738=) c.3000G>A (p.Arg1000=) c.8850G>A (p.Arg2950=) c.8730G>A (p.Arg2910=) c.8661G>A (p.Arg2887=) c.7065G>A (p.Arg2355=) n.9201G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.51753227C>A | CA364426653 | PKHD1 | c.8924G>T (p.Arg2975Met) c.8795G>T (p.Arg2932Met) c.8786G>T (p.Arg2929Met) c.8282G>T (p.Arg2761Met) c.8213G>T (p.Arg2738Met) c.2999G>T (p.Arg1000Met) c.8849G>T (p.Arg2950Met) c.8729G>T (p.Arg2910Met) c.8660G>T (p.Arg2887Met) c.7064G>T (p.Arg2355Met) n.9200G>T | |
| 6 | g.51753227C>G | CA364426651 | PKHD1 | c.8924G>C (p.Arg2975Thr) c.8795G>C (p.Arg2932Thr) c.8786G>C (p.Arg2929Thr) c.8282G>C (p.Arg2761Thr) c.8213G>C (p.Arg2738Thr) c.2999G>C (p.Arg1000Thr) c.8849G>C (p.Arg2950Thr) c.8729G>C (p.Arg2910Thr) c.8660G>C (p.Arg2887Thr) c.7064G>C (p.Arg2355Thr) n.9200G>C | |
| 6 | g.51753227C>T | CA364426652 | PKHD1 | c.8924G>A (p.Arg2975Lys) c.8795G>A (p.Arg2932Lys) c.8786G>A (p.Arg2929Lys) c.8282G>A (p.Arg2761Lys) c.8213G>A (p.Arg2738Lys) c.2999G>A (p.Arg1000Lys) c.8849G>A (p.Arg2950Lys) c.8729G>A (p.Arg2910Lys) c.8660G>A (p.Arg2887Lys) c.7064G>A (p.Arg2355Lys) n.9200G>A | COSMIC COSMIC |
| 6 | g.51753228T>A | CA364426655 | PKHD1 | c.8923A>T (p.Arg2975Trp) c.8794A>T (p.Arg2932Trp) c.8785A>T (p.Arg2929Trp) c.8281A>T (p.Arg2761Trp) c.8212A>T (p.Arg2738Trp) c.2998A>T (p.Arg1000Trp) c.8848A>T (p.Arg2950Trp) c.8728A>T (p.Arg2910Trp) c.8659A>T (p.Arg2887Trp) c.7063A>T (p.Arg2355Trp) n.9199A>T | dbSNP |
| 6 | g.51753228T>C | CA364426659 | PKHD1 | c.8923A>G (p.Arg2975Gly) c.8794A>G (p.Arg2932Gly) c.8785A>G (p.Arg2929Gly) c.8281A>G (p.Arg2761Gly) c.8212A>G (p.Arg2738Gly) c.2998A>G (p.Arg1000Gly) c.8848A>G (p.Arg2950Gly) c.8728A>G (p.Arg2910Gly) c.8659A>G (p.Arg2887Gly) c.7063A>G (p.Arg2355Gly) n.9199A>G | |
| 6 | g.51753228T>G | CA450412559 | PKHD1 | c.8923A>C (p.Arg2975=) c.8794A>C (p.Arg2932=) c.8785A>C (p.Arg2929=) c.8281A>C (p.Arg2761=) c.8212A>C (p.Arg2738=) c.2998A>C (p.Arg1000=) c.8848A>C (p.Arg2950=) c.8728A>C (p.Arg2910=) c.8659A>C (p.Arg2887=) c.7063A>C (p.Arg2355=) n.9199A>C | COSMIC COSMIC |
| 6 | g.51753228T= | CA1628509939 | PKHD1 | c.8923A= (p.Arg2975=) c.8794A= (p.Arg2932=) c.8785A= (p.Arg2929=) c.8281A= (p.Arg2761=) c.8212A= (p.Arg2738=) c.2998A= (p.Arg1000=) c.8848A= (p.Arg2950=) c.8728A= (p.Arg2910=) c.8659A= (p.Arg2887=) c.7063A= (p.Arg2355=) n.9199A= | |
| 6 | g.51753229G>A | CA450412560 | PKHD1 | c.8922C>T (p.Phe2974=) c.8793C>T (p.Phe2931=) c.8784C>T (p.Phe2928=) c.8280C>T (p.Phe2760=) c.8211C>T (p.Phe2737=) c.2997C>T (p.Phe999=) c.8847C>T (p.Phe2949=) c.8727C>T (p.Phe2909=) c.8658C>T (p.Phe2886=) c.7062C>T (p.Phe2354=) n.9198C>T | gnomAD v4 COSMIC COSMIC |
| 6 | g.51753229G>C | CA364426664 | PKHD1 | c.8922C>G (p.Phe2974Leu) c.8793C>G (p.Phe2931Leu) c.8784C>G (p.Phe2928Leu) c.8280C>G (p.Phe2760Leu) c.8211C>G (p.Phe2737Leu) c.2997C>G (p.Phe999Leu) c.8847C>G (p.Phe2949Leu) c.8727C>G (p.Phe2909Leu) c.8658C>G (p.Phe2886Leu) c.7062C>G (p.Phe2354Leu) n.9198C>G | |
| 6 | g.51753229G>T | CA364426673 | PKHD1 | c.8922C>A (p.Phe2974Leu) c.8793C>A (p.Phe2931Leu) c.8784C>A (p.Phe2928Leu) c.8280C>A (p.Phe2760Leu) c.8211C>A (p.Phe2737Leu) c.2997C>A (p.Phe999Leu) c.8847C>A (p.Phe2949Leu) c.8727C>A (p.Phe2909Leu) c.8658C>A (p.Phe2886Leu) c.7062C>A (p.Phe2354Leu) n.9198C>A | |
| 6 | g.51753230A>C | CA364426676 | PKHD1 | c.8921T>G (p.Phe2974Cys) c.8792T>G (p.Phe2931Cys) c.8783T>G (p.Phe2928Cys) c.8279T>G (p.Phe2760Cys) c.8210T>G (p.Phe2737Cys) c.2996T>G (p.Phe999Cys) c.8846T>G (p.Phe2949Cys) c.8726T>G (p.Phe2909Cys) c.8657T>G (p.Phe2886Cys) c.7061T>G (p.Phe2354Cys) n.9197T>G | |
| 6 | g.51753230A>G | CA364426677 | PKHD1 | c.8921T>C (p.Phe2974Ser) c.8792T>C (p.Phe2931Ser) c.8783T>C (p.Phe2928Ser) c.8279T>C (p.Phe2760Ser) c.8210T>C (p.Phe2737Ser) c.2996T>C (p.Phe999Ser) c.8846T>C (p.Phe2949Ser) c.8726T>C (p.Phe2909Ser) c.8657T>C (p.Phe2886Ser) c.7061T>C (p.Phe2354Ser) n.9197T>C | COSMIC COSMIC |
| 6 | g.51753230A>T | CA364426679 | PKHD1 | c.8921T>A (p.Phe2974Tyr) c.8792T>A (p.Phe2931Tyr) c.8783T>A (p.Phe2928Tyr) c.8279T>A (p.Phe2760Tyr) c.8210T>A (p.Phe2737Tyr) c.2996T>A (p.Phe999Tyr) c.8846T>A (p.Phe2949Tyr) c.8726T>A (p.Phe2909Tyr) c.8657T>A (p.Phe2886Tyr) c.7061T>A (p.Phe2354Tyr) n.9197T>A | |
| 6 | g.51753231A>C | CA364426682 | PKHD1 | c.8920T>G (p.Phe2974Val) c.8791T>G (p.Phe2931Val) c.8782T>G (p.Phe2928Val) c.8278T>G (p.Phe2760Val) c.8209T>G (p.Phe2737Val) c.2995T>G (p.Phe999Val) c.8845T>G (p.Phe2949Val) c.8725T>G (p.Phe2909Val) c.8656T>G (p.Phe2886Val) c.7060T>G (p.Phe2354Val) n.9196T>G | |
| 6 | g.51753231A>G | CA364426683 | PKHD1 | c.8920T>C (p.Phe2974Leu) c.8791T>C (p.Phe2931Leu) c.8782T>C (p.Phe2928Leu) c.8278T>C (p.Phe2760Leu) c.8209T>C (p.Phe2737Leu) c.2995T>C (p.Phe999Leu) c.8845T>C (p.Phe2949Leu) c.8725T>C (p.Phe2909Leu) c.8656T>C (p.Phe2886Leu) c.7060T>C (p.Phe2354Leu) n.9196T>C | |
| 6 | g.51753231A>T | CA364426684 | PKHD1 | c.8920T>A (p.Phe2974Ile) c.8791T>A (p.Phe2931Ile) c.8782T>A (p.Phe2928Ile) c.8278T>A (p.Phe2760Ile) c.8209T>A (p.Phe2737Ile) c.2995T>A (p.Phe999Ile) c.8845T>A (p.Phe2949Ile) c.8725T>A (p.Phe2909Ile) c.8656T>A (p.Phe2886Ile) c.7060T>A (p.Phe2354Ile) n.9196T>A | gnomAD v4 |
| 6 | g.51753232G>A | CA450412564 | PKHD1 | c.8919C>T (p.Ser2973=) c.8790C>T (p.Ser2930=) c.8781C>T (p.Ser2927=) c.8277C>T (p.Ser2759=) c.8208C>T (p.Ser2736=) c.2994C>T (p.Ser998=) c.8844C>T (p.Ser2948=) c.8724C>T (p.Ser2908=) c.8655C>T (p.Ser2885=) c.7059C>T (p.Ser2353=) n.9195C>T | |
| 6 | g.51753232G>C | CA450412566 | PKHD1 | c.8919C>G (p.Ser2973=) c.8790C>G (p.Ser2930=) c.8781C>G (p.Ser2927=) c.8277C>G (p.Ser2759=) c.8208C>G (p.Ser2736=) c.2994C>G (p.Ser998=) c.8844C>G (p.Ser2948=) c.8724C>G (p.Ser2908=) c.8655C>G (p.Ser2885=) c.7059C>G (p.Ser2353=) n.9195C>G | ClinVar |
| 6 | g.51753232G>T | CA450412568 | PKHD1 | c.8919C>A (p.Ser2973=) c.8790C>A (p.Ser2930=) c.8781C>A (p.Ser2927=) c.8277C>A (p.Ser2759=) c.8208C>A (p.Ser2736=) c.2994C>A (p.Ser998=) c.8844C>A (p.Ser2948=) c.8724C>A (p.Ser2908=) c.8655C>A (p.Ser2885=) c.7059C>A (p.Ser2353=) n.9195C>A | gnomAD v4 COSMIC COSMIC |
| 6 | g.51753233G>A | CA3851493 | PKHD1 | c.8918C>T (p.Ser2973Phe) c.8789C>T (p.Ser2930Phe) c.8780C>T (p.Ser2927Phe) c.8276C>T (p.Ser2759Phe) c.8207C>T (p.Ser2736Phe) c.2993C>T (p.Ser998Phe) c.8843C>T (p.Ser2948Phe) c.8723C>T (p.Ser2908Phe) c.8654C>T (p.Ser2885Phe) c.7058C>T (p.Ser2353Phe) n.9194C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.51753233G>C | CA364426692 | PKHD1 | c.8918C>G (p.Ser2973Cys) c.8789C>G (p.Ser2930Cys) c.8780C>G (p.Ser2927Cys) c.8276C>G (p.Ser2759Cys) c.8207C>G (p.Ser2736Cys) c.2993C>G (p.Ser998Cys) c.8843C>G (p.Ser2948Cys) c.8723C>G (p.Ser2908Cys) c.8654C>G (p.Ser2885Cys) c.7058C>G (p.Ser2353Cys) n.9194C>G | |
| 6 | g.51753233G= | CA1628509942 | PKHD1 | c.8918C= (p.Ser2973=) c.8789C= (p.Ser2930=) c.8780C= (p.Ser2927=) c.8276C= (p.Ser2759=) c.8207C= (p.Ser2736=) c.2993C= (p.Ser998=) c.8843C= (p.Ser2948=) c.8723C= (p.Ser2908=) c.8654C= (p.Ser2885=) c.7058C= (p.Ser2353=) n.9194C= |