| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52043636C>A | CA364442530 | PKHD1 | c.2810G>T (p.Trp937Leu) c.2099G>T (p.Trp700Leu) c.2735G>T (p.Trp912Leu) c.950G>T (p.Trp317Leu) n.3086G>T | |
| 6 | g.52043636C= | CA1628627295 | PKHD1 | c.2810G= (p.Trp937=) c.2099G= (p.Trp700=) c.2735G= (p.Trp912=) c.950G= (p.Trp317=) n.3086G= | |
| 6 | g.52043636C>G | CA364442531 | PKHD1 | c.2810G>C (p.Trp937Ser) c.2099G>C (p.Trp700Ser) c.2735G>C (p.Trp912Ser) c.950G>C (p.Trp317Ser) n.3086G>C | |
| 6 | g.52043636C>T | CA274389 | PKHD1 | c.2810G>A (p.Trp937Ter) c.2099G>A (p.Trp700Ter) c.2735G>A (p.Trp912Ter) c.950G>A (p.Trp317Ter) n.3086G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.52043637A>C | CA364442532 | PKHD1 | c.2809T>G (p.Trp937Gly) c.2098T>G (p.Trp700Gly) c.2734T>G (p.Trp912Gly) c.949T>G (p.Trp317Gly) n.3085T>G | |
| 6 | g.52043637A>G | CA364442533 | PKHD1 | c.2809T>C (p.Trp937Arg) c.2098T>C (p.Trp700Arg) c.2734T>C (p.Trp912Arg) c.949T>C (p.Trp317Arg) n.3085T>C | |
| 6 | g.52043637A>T | CA364442534 | PKHD1 | c.2809T>A (p.Trp937Arg) c.2098T>A (p.Trp700Arg) c.2734T>A (p.Trp912Arg) c.949T>A (p.Trp317Arg) n.3085T>A | |
| 6 | g.52043643_52043653del | CA2679083097 | PKHD1 | c.2799_2809del (p.His934ValfsTer4) c.2088_2098del (p.His697ValfsTer4) c.2724_2734del (p.His909ValfsTer4) c.939_949del (p.His314ValfsTer4) n.3075_3085del | ClinVar gnomAD v4 |
| 6 | g.52043638del | CA2711834810 | PKHD1 | c.2808del (p.Trp937GlyfsTer10) c.2097del (p.Trp700GlyfsTer10) c.2733del (p.Trp912GlyfsTer10) c.948del (p.Trp317GlyfsTer10) n.3084del | dbSNP |
| 6 | g.52043638C>A | CA450420295 | PKHD1 | c.2808G>T (p.Val936=) c.2097G>T (p.Val699=) c.2733G>T (p.Val911=) c.948G>T (p.Val316=) n.3084G>T | gnomAD v4 |
| 6 | g.52043638C>G | CA450420297 | PKHD1 | c.2808G>C (p.Val936=) c.2097G>C (p.Val699=) c.2733G>C (p.Val911=) c.948G>C (p.Val316=) n.3084G>C | |
| 6 | g.52043638C>T | CA450420299 | PKHD1 | c.2808G>A (p.Val936=) c.2097G>A (p.Val699=) c.2733G>A (p.Val911=) c.948G>A (p.Val316=) n.3084G>A | |
| 6 | g.52043639A>C | CA364442535 | PKHD1 | c.2807T>G (p.Val936Gly) c.2096T>G (p.Val699Gly) c.2732T>G (p.Val911Gly) c.947T>G (p.Val316Gly) n.3083T>G | |
| 6 | g.52043639A>G | CA364442536 | PKHD1 | c.2807T>C (p.Val936Ala) c.2096T>C (p.Val699Ala) c.2732T>C (p.Val911Ala) c.947T>C (p.Val316Ala) n.3083T>C | |
| 6 | g.52043639A>T | CA364442537 | PKHD1 | c.2807T>A (p.Val936Glu) c.2096T>A (p.Val699Glu) c.2732T>A (p.Val911Glu) c.947T>A (p.Val316Glu) n.3083T>A | |
| 6 | g.52043640C>A | CA364442538 | PKHD1 | c.2806G>T (p.Val936Leu) c.2095G>T (p.Val699Leu) c.2731G>T (p.Val911Leu) c.946G>T (p.Val316Leu) n.3082G>T | |
| 6 | g.52043640C>G | CA364442539 | PKHD1 | c.2806G>C (p.Val936Leu) c.2095G>C (p.Val699Leu) c.2731G>C (p.Val911Leu) c.946G>C (p.Val316Leu) n.3082G>C | |
| 6 | g.52043640C>T | CA364442540 | PKHD1 | c.2806G>A (p.Val936Met) c.2095G>A (p.Val699Met) c.2731G>A (p.Val911Met) c.946G>A (p.Val316Met) n.3082G>A | gnomAD v4 |
| 6 | g.52043641A>C | CA450420300 | PKHD1 | c.2805T>G (p.Ser935=) c.2094T>G (p.Ser698=) c.2730T>G (p.Ser910=) c.945T>G (p.Ser315=) n.3081T>G | gnomAD v4 |
| 6 | g.52043641A>G | CA450420302 | PKHD1 | c.2805T>C (p.Ser935=) c.2094T>C (p.Ser698=) c.2730T>C (p.Ser910=) c.945T>C (p.Ser315=) n.3081T>C | |
| 6 | g.52043641A>T | CA450420304 | PKHD1 | c.2805T>A (p.Ser935=) c.2094T>A (p.Ser698=) c.2730T>A (p.Ser910=) c.945T>A (p.Ser315=) n.3081T>A | |
| 6 | g.52043642G>A | CA364442542 | PKHD1 | c.2804C>T (p.Ser935Phe) c.2093C>T (p.Ser698Phe) c.2729C>T (p.Ser910Phe) c.944C>T (p.Ser315Phe) n.3080C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52043642G>C | CA364442541 | PKHD1 | c.2804C>G (p.Ser935Cys) c.2093C>G (p.Ser698Cys) c.2729C>G (p.Ser910Cys) c.944C>G (p.Ser315Cys) n.3080C>G | gnomAD v4 |
| 6 | g.52043642G= | CA1628627306 | PKHD1 | c.2804C= (p.Ser935=) c.2093C= (p.Ser698=) c.2729C= (p.Ser910=) c.944C= (p.Ser315=) n.3080C= | |
| 6 | g.52043642G>T | CA3853115 | PKHD1 | c.2804C>A (p.Ser935Tyr) c.2093C>A (p.Ser698Tyr) c.2729C>A (p.Ser910Tyr) c.944C>A (p.Ser315Tyr) n.3080C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52043643A>C | CA364442543 | PKHD1 | c.2803T>G (p.Ser935Ala) c.2092T>G (p.Ser698Ala) c.2728T>G (p.Ser910Ala) c.943T>G (p.Ser315Ala) n.3079T>G | |
| 6 | g.52043643A>G | CA364442544 | PKHD1 | c.2803T>C (p.Ser935Pro) c.2092T>C (p.Ser698Pro) c.2728T>C (p.Ser910Pro) c.943T>C (p.Ser315Pro) n.3079T>C | |
| 6 | g.52043643A>T | CA364442545 | PKHD1 | c.2803T>A (p.Ser935Thr) c.2092T>A (p.Ser698Thr) c.2728T>A (p.Ser910Thr) c.943T>A (p.Ser315Thr) n.3079T>A | |
| 6 | g.52043644A= | CA1628627316 | PKHD1 | c.2802T= (p.His934=) c.2091T= (p.His697=) c.2727T= (p.His909=) c.942T= (p.His314=) n.3078T= | |
| 6 | g.52043644A>C | CA364442546 | PKHD1 | c.2802T>G (p.His934Gln) c.2091T>G (p.His697Gln) c.2727T>G (p.His909Gln) c.942T>G (p.His314Gln) n.3078T>G | |
| 6 | g.52043644A>G | CA138962463 | PKHD1 | c.2802T>C (p.His934=) c.2091T>C (p.His697=) c.2727T>C (p.His909=) c.942T>C (p.His314=) n.3078T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52043644A>T | CA364442547 | PKHD1 | c.2802T>A (p.His934Gln) c.2091T>A (p.His697Gln) c.2727T>A (p.His909Gln) c.942T>A (p.His314Gln) n.3078T>A | |
| 6 | g.52043645T>A | CA364442550 | PKHD1 | c.2801A>T (p.His934Leu) c.2090A>T (p.His697Leu) c.2726A>T (p.His909Leu) c.941A>T (p.His314Leu) n.3077A>T | |
| 6 | g.52043645T>C | CA364442549 | PKHD1 | c.2801A>G (p.His934Arg) c.2090A>G (p.His697Arg) c.2726A>G (p.His909Arg) c.941A>G (p.His314Arg) n.3077A>G | |
| 6 | g.52043645T>G | CA364442548 | PKHD1 | c.2801A>C (p.His934Pro) c.2090A>C (p.His697Pro) c.2726A>C (p.His909Pro) c.941A>C (p.His314Pro) n.3077A>C | |
| 6 | g.52043645_52043668dup | CA2679083098 | PKHD1 | c.2778_2801dup (p.His934_Ser935insGlnGlySerThrProCysValHis) c.2067_2090dup (p.His697_Ser698insGlnGlySerThrProCysValHis) c.2703_2726dup (p.His909_Ser910insGlnGlySerThrProCysValHis) c.918_941dup (p.His314_Ser315insGlnGlySerThrProCysValHis) n.3054_3077dup | gnomAD v4 |
| 6 | g.52043646G>A | CA364442551 | PKHD1 | c.2800C>T (p.His934Tyr) c.2089C>T (p.His697Tyr) c.2725C>T (p.His909Tyr) c.940C>T (p.His314Tyr) n.3076C>T | |
| 6 | g.52043646G>C | CA364442552 | PKHD1 | c.2800C>G (p.His934Asp) c.2089C>G (p.His697Asp) c.2725C>G (p.His909Asp) c.940C>G (p.His314Asp) n.3076C>G | dbSNP gnomAD v4 |
| 6 | g.52043646G= | CA1628627319 | PKHD1 | c.2800C= (p.His934=) c.2089C= (p.His697=) c.2725C= (p.His909=) c.940C= (p.His314=) n.3076C= | |
| 6 | g.52043646G>T | CA364442553 | PKHD1 | c.2800C>A (p.His934Asn) c.2089C>A (p.His697Asn) c.2725C>A (p.His909Asn) c.940C>A (p.His314Asn) n.3076C>A | gnomAD v4 |
| 6 | g.52043647G>A | CA450420307 | PKHD1 | c.2799C>T (p.Val933=) c.2088C>T (p.Val696=) c.2724C>T (p.Val908=) c.939C>T (p.Val313=) n.3075C>T | ClinVar |
| 6 | g.52043647G>C | CA450420310 | PKHD1 | c.2799C>G (p.Val933=) c.2088C>G (p.Val696=) c.2724C>G (p.Val908=) c.939C>G (p.Val313=) n.3075C>G | |
| 6 | g.52043647G>T | CA450420308 | PKHD1 | c.2799C>A (p.Val933=) c.2088C>A (p.Val696=) c.2724C>A (p.Val908=) c.939C>A (p.Val313=) n.3075C>A | |
| 6 | g.52043648A= | CA1628627326 | PKHD1 | c.2798T= (p.Val933=) c.2087T= (p.Val696=) c.2723T= (p.Val908=) c.938T= (p.Val313=) n.3074T= | |
| 6 | g.52043648A>C | CA364442554 | PKHD1 | c.2798T>G (p.Val933Gly) c.2087T>G (p.Val696Gly) c.2723T>G (p.Val908Gly) c.938T>G (p.Val313Gly) n.3074T>G | |
| 6 | g.52043648A>G | CA364442555 | PKHD1 | c.2798T>C (p.Val933Ala) c.2087T>C (p.Val696Ala) c.2723T>C (p.Val908Ala) c.938T>C (p.Val313Ala) n.3074T>C | |
| 6 | g.52043648A>T | CA3853116 | PKHD1 | c.2798T>A (p.Val933Asp) c.2087T>A (p.Val696Asp) c.2723T>A (p.Val908Asp) c.938T>A (p.Val313Asp) n.3074T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52043649C>A | CA364442556 | PKHD1 | c.2797G>T (p.Val933Phe) c.2086G>T (p.Val696Phe) c.2722G>T (p.Val908Phe) c.937G>T (p.Val313Phe) n.3073G>T | |
| 6 | g.52043649C= | CA1628627330 | PKHD1 | c.2797G= (p.Val933=) c.2086G= (p.Val696=) c.2722G= (p.Val908=) c.937G= (p.Val313=) n.3073G= | |
| 6 | g.52043649C>G | CA364442557 | PKHD1 | c.2797G>C (p.Val933Leu) c.2086G>C (p.Val696Leu) c.2722G>C (p.Val908Leu) c.937G>C (p.Val313Leu) n.3073G>C |