| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51753318_51753319delinsGA | CA1628510180 | PKHD1 | c.8832_8833delinsTC (p.Ile2944=) c.8703_8704delinsTC (p.Ile2901=) c.8694_8695delinsTC (p.Ile2898=) c.8190_8191delinsTC (p.Ile2730=) c.8121_8122delinsTC (p.Ile2707=) c.2907_2908delinsTC (p.Ile969=) c.8757_8758delinsTC (p.Ile2919=) c.8637_8638delinsTC (p.Ile2879=) c.8568_8569delinsTC (p.Ile2856=) c.6972_6973delinsTC (p.Ile2324=) c.*1436_*1437delinsTC (n.*1436_*1437delinsTC) n.9108_9109delinsTC | |
| 6 | g.51753319A>C | CA364427126 | PKHD1 | c.8832T>G (p.Ile2944Met) c.8703T>G (p.Ile2901Met) c.8694T>G (p.Ile2898Met) c.8190T>G (p.Ile2730Met) c.8121T>G (p.Ile2707Met) c.2907T>G (p.Ile969Met) c.8757T>G (p.Ile2919Met) c.8637T>G (p.Ile2879Met) c.8568T>G (p.Ile2856Met) c.6972T>G (p.Ile2324Met) c.*1436T>G (n.*1436T>G) n.9108T>G | |
| 6 | g.51753319A>G | CA450412699 | PKHD1 | c.8832T>C (p.Ile2944=) c.8703T>C (p.Ile2901=) c.8694T>C (p.Ile2898=) c.8190T>C (p.Ile2730=) c.8121T>C (p.Ile2707=) c.2907T>C (p.Ile969=) c.8757T>C (p.Ile2919=) c.8637T>C (p.Ile2879=) c.8568T>C (p.Ile2856=) c.6972T>C (p.Ile2324=) c.*1436T>C (n.*1436T>C) n.9108T>C | |
| 6 | g.51753319A>T | CA450412698 | PKHD1 | c.8832T>A (p.Ile2944=) c.8703T>A (p.Ile2901=) c.8694T>A (p.Ile2898=) c.8190T>A (p.Ile2730=) c.8121T>A (p.Ile2707=) c.2907T>A (p.Ile969=) c.8757T>A (p.Ile2919=) c.8637T>A (p.Ile2879=) c.8568T>A (p.Ile2856=) c.6972T>A (p.Ile2324=) c.*1436T>A (n.*1436T>A) n.9108T>A | ClinVar |
| 6 | g.51753320del | CA16041035 | PKHD1 | c.8832del (p.Arg2945ValfsTer9) c.8703del (p.Arg2902ValfsTer9) c.8694del (p.Arg2899ValfsTer9) c.8190del (p.Arg2731ValfsTer9) c.8121del (p.Arg2708ValfsTer9) c.2907del (p.Arg970ValfsTer9) c.8757del (p.Arg2920ValfsTer9) c.8637del (p.Arg2880ValfsTer9) c.8568del (p.Arg2857ValfsTer9) c.6972del (p.Arg2325ValfsTer9) c.*1436del (n.*1436del) n.9108del | ClinVar dbSNP |
| 6 | g.51753320A>C | CA364427131 | PKHD1 | c.8831T>G (p.Ile2944Ser) c.8702T>G (p.Ile2901Ser) c.8693T>G (p.Ile2898Ser) c.8189T>G (p.Ile2730Ser) c.8120T>G (p.Ile2707Ser) c.2906T>G (p.Ile969Ser) c.8756T>G (p.Ile2919Ser) c.8636T>G (p.Ile2879Ser) c.8567T>G (p.Ile2856Ser) c.6971T>G (p.Ile2324Ser) c.*1435T>G (n.*1435T>G) n.9107T>G | |
| 6 | g.51753320A>G | CA364427132 | PKHD1 | c.8831T>C (p.Ile2944Thr) c.8702T>C (p.Ile2901Thr) c.8693T>C (p.Ile2898Thr) c.8189T>C (p.Ile2730Thr) c.8120T>C (p.Ile2707Thr) c.2906T>C (p.Ile969Thr) c.8756T>C (p.Ile2919Thr) c.8636T>C (p.Ile2879Thr) c.8567T>C (p.Ile2856Thr) c.6971T>C (p.Ile2324Thr) c.*1435T>C (n.*1435T>C) n.9107T>C | |
| 6 | g.51753320A>T | CA364427133 | PKHD1 | c.8831T>A (p.Ile2944Asn) c.8702T>A (p.Ile2901Asn) c.8693T>A (p.Ile2898Asn) c.8189T>A (p.Ile2730Asn) c.8120T>A (p.Ile2707Asn) c.2906T>A (p.Ile969Asn) c.8756T>A (p.Ile2919Asn) c.8636T>A (p.Ile2879Asn) c.8567T>A (p.Ile2856Asn) c.6971T>A (p.Ile2324Asn) c.*1435T>A (n.*1435T>A) n.9107T>A | |
| 6 | g.51753321T>A | CA138898953 | PKHD1 | c.8830A>T (p.Ile2944Phe) c.8701A>T (p.Ile2901Phe) c.8692A>T (p.Ile2898Phe) c.8188A>T (p.Ile2730Phe) c.8119A>T (p.Ile2707Phe) c.2905A>T (p.Ile969Phe) c.8755A>T (p.Ile2919Phe) c.8635A>T (p.Ile2879Phe) c.8566A>T (p.Ile2856Phe) c.6970A>T (p.Ile2324Phe) c.*1434A>T (n.*1434A>T) n.9106A>T | dbSNP |
| 6 | g.51753321T>C | CA3851508 | PKHD1 | c.8830A>G (p.Ile2944Val) c.8701A>G (p.Ile2901Val) c.8692A>G (p.Ile2898Val) c.8188A>G (p.Ile2730Val) c.8119A>G (p.Ile2707Val) c.2905A>G (p.Ile969Val) c.8755A>G (p.Ile2919Val) c.8635A>G (p.Ile2879Val) c.8566A>G (p.Ile2856Val) c.6970A>G (p.Ile2324Val) c.*1434A>G (n.*1434A>G) n.9106A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51753321T>G | CA364427143 | PKHD1 | c.8830A>C (p.Ile2944Leu) c.8701A>C (p.Ile2901Leu) c.8692A>C (p.Ile2898Leu) c.8188A>C (p.Ile2730Leu) c.8119A>C (p.Ile2707Leu) c.2905A>C (p.Ile969Leu) c.8755A>C (p.Ile2919Leu) c.8635A>C (p.Ile2879Leu) c.8566A>C (p.Ile2856Leu) c.6970A>C (p.Ile2324Leu) c.*1434A>C (n.*1434A>C) n.9106A>C | dbSNP |
| 6 | g.51753321T= | CA1628510191 | PKHD1 | c.8830A= (p.Ile2944=) c.8701A= (p.Ile2901=) c.8692A= (p.Ile2898=) c.8188A= (p.Ile2730=) c.8119A= (p.Ile2707=) c.2905A= (p.Ile969=) c.8755A= (p.Ile2919=) c.8635A= (p.Ile2879=) c.8566A= (p.Ile2856=) c.6970A= (p.Ile2324=) c.*1434A= (n.*1434A=) n.9106A= | |
| 6 | g.51753322G>A | CA450412703 | PKHD1 | c.8829C>T (p.His2943=) c.8700C>T (p.His2900=) c.8691C>T (p.His2897=) c.8187C>T (p.His2729=) c.8118C>T (p.His2706=) c.2904C>T (p.His968=) c.8754C>T (p.His2918=) c.8634C>T (p.His2878=) c.8565C>T (p.His2855=) c.6969C>T (p.His2323=) c.*1433C>T (n.*1433C>T) n.9105C>T | |
| 6 | g.51753322G>C | CA364427145 | PKHD1 | c.8829C>G (p.His2943Gln) c.8700C>G (p.His2900Gln) c.8691C>G (p.His2897Gln) c.8187C>G (p.His2729Gln) c.8118C>G (p.His2706Gln) c.2904C>G (p.His968Gln) c.8754C>G (p.His2918Gln) c.8634C>G (p.His2878Gln) c.8565C>G (p.His2855Gln) c.6969C>G (p.His2323Gln) c.*1433C>G (n.*1433C>G) n.9105C>G | |
| 6 | g.51753322G>T | CA364427147 | PKHD1 | c.8829C>A (p.His2943Gln) c.8700C>A (p.His2900Gln) c.8691C>A (p.His2897Gln) c.8187C>A (p.His2729Gln) c.8118C>A (p.His2706Gln) c.2904C>A (p.His968Gln) c.8754C>A (p.His2918Gln) c.8634C>A (p.His2878Gln) c.8565C>A (p.His2855Gln) c.6969C>A (p.His2323Gln) c.*1433C>A (n.*1433C>A) n.9105C>A | |
| 6 | g.51753322dup | CA2573052706 | PKHD1 | c.8829dup (p.Ile2944HisfsTer6) c.8700dup (p.Ile2901HisfsTer6) c.8691dup (p.Ile2898HisfsTer6) c.8187dup (p.Ile2730HisfsTer6) c.8118dup (p.Ile2707HisfsTer6) c.2904dup (p.Ile969HisfsTer6) c.8754dup (p.Ile2919HisfsTer6) c.8634dup (p.Ile2879HisfsTer6) c.8565dup (p.Ile2856HisfsTer6) c.6969dup (p.Ile2324HisfsTer6) c.*1433dup (n.*1433dup) n.9105dup | ClinVar dbSNP gnomAD v4 |
| 6 | g.51753323T>A | CA364427152 | PKHD1 | c.8828A>T (p.His2943Leu) c.8699A>T (p.His2900Leu) c.8690A>T (p.His2897Leu) c.8186A>T (p.His2729Leu) c.8117A>T (p.His2706Leu) c.2903A>T (p.His968Leu) c.8753A>T (p.His2918Leu) c.8633A>T (p.His2878Leu) c.8564A>T (p.His2855Leu) c.6968A>T (p.His2323Leu) c.*1432A>T (n.*1432A>T) n.9104A>T | |
| 6 | g.51753323T>C | CA364427148 | PKHD1 | c.8828A>G (p.His2943Arg) c.8699A>G (p.His2900Arg) c.8690A>G (p.His2897Arg) c.8186A>G (p.His2729Arg) c.8117A>G (p.His2706Arg) c.2903A>G (p.His968Arg) c.8753A>G (p.His2918Arg) c.8633A>G (p.His2878Arg) c.8564A>G (p.His2855Arg) c.6968A>G (p.His2323Arg) c.*1432A>G (n.*1432A>G) n.9104A>G | |
| 6 | g.51753323T>G | CA364427151 | PKHD1 | c.8828A>C (p.His2943Pro) c.8699A>C (p.His2900Pro) c.8690A>C (p.His2897Pro) c.8186A>C (p.His2729Pro) c.8117A>C (p.His2706Pro) c.2903A>C (p.His968Pro) c.8753A>C (p.His2918Pro) c.8633A>C (p.His2878Pro) c.8564A>C (p.His2855Pro) c.6968A>C (p.His2323Pro) c.*1432A>C (n.*1432A>C) n.9104A>C | |
| 6 | g.51753324G>A | CA364427153 | PKHD1 | c.8827C>T (p.His2943Tyr) c.8698C>T (p.His2900Tyr) c.8689C>T (p.His2897Tyr) c.8185C>T (p.His2729Tyr) c.8116C>T (p.His2706Tyr) c.2902C>T (p.His968Tyr) c.8752C>T (p.His2918Tyr) c.8632C>T (p.His2878Tyr) c.8563C>T (p.His2855Tyr) c.6967C>T (p.His2323Tyr) c.*1431C>T (n.*1431C>T) n.9103C>T | |
| 6 | g.51753324G>C | CA364427155 | PKHD1 | c.8827C>G (p.His2943Asp) c.8698C>G (p.His2900Asp) c.8689C>G (p.His2897Asp) c.8185C>G (p.His2729Asp) c.8116C>G (p.His2706Asp) c.2902C>G (p.His968Asp) c.8752C>G (p.His2918Asp) c.8632C>G (p.His2878Asp) c.8563C>G (p.His2855Asp) c.6967C>G (p.His2323Asp) c.*1431C>G (n.*1431C>G) n.9103C>G | |
| 6 | g.51753324G>T | CA364427158 | PKHD1 | c.8827C>A (p.His2943Asn) c.8698C>A (p.His2900Asn) c.8689C>A (p.His2897Asn) c.8185C>A (p.His2729Asn) c.8116C>A (p.His2706Asn) c.2902C>A (p.His968Asn) c.8752C>A (p.His2918Asn) c.8632C>A (p.His2878Asn) c.8563C>A (p.His2855Asn) c.6967C>A (p.His2323Asn) c.*1431C>A (n.*1431C>A) n.9103C>A | COSMIC COSMIC |
| 6 | g.51753325T>A | CA450412705 | PKHD1 | c.8826A>T (p.Arg2942=) c.8697A>T (p.Arg2899=) c.8688A>T (p.Arg2896=) c.8184A>T (p.Arg2728=) c.8115A>T (p.Arg2705=) c.2901A>T (p.Arg967=) c.8751A>T (p.Arg2917=) c.8631A>T (p.Arg2877=) c.8562A>T (p.Arg2854=) c.6966A>T (p.Arg2322=) c.*1430A>T (n.*1430A>T) n.9102A>T | |
| 6 | g.51753325T>C | CA450412706 | PKHD1 | c.8826A>G (p.Arg2942=) c.8697A>G (p.Arg2899=) c.8688A>G (p.Arg2896=) c.8184A>G (p.Arg2728=) c.8115A>G (p.Arg2705=) c.2901A>G (p.Arg967=) c.8751A>G (p.Arg2917=) c.8631A>G (p.Arg2877=) c.8562A>G (p.Arg2854=) c.6966A>G (p.Arg2322=) c.*1430A>G (n.*1430A>G) n.9102A>G | dbSNP |
| 6 | g.51753325T>G | CA450412707 | PKHD1 | c.8826A>C (p.Arg2942=) c.8697A>C (p.Arg2899=) c.8688A>C (p.Arg2896=) c.8184A>C (p.Arg2728=) c.8115A>C (p.Arg2705=) c.2901A>C (p.Arg967=) c.8751A>C (p.Arg2917=) c.8631A>C (p.Arg2877=) c.8562A>C (p.Arg2854=) c.6966A>C (p.Arg2322=) c.*1430A>C (n.*1430A>C) n.9102A>C | |
| 6 | g.51753326C>A | CA364427161 | PKHD1 | c.8825G>T (p.Arg2942Leu) c.8696G>T (p.Arg2899Leu) c.8687G>T (p.Arg2896Leu) c.8183G>T (p.Arg2728Leu) c.8114G>T (p.Arg2705Leu) c.2900G>T (p.Arg967Leu) c.8750G>T (p.Arg2917Leu) c.8630G>T (p.Arg2877Leu) c.8561G>T (p.Arg2854Leu) c.6965G>T (p.Arg2322Leu) c.*1429G>T (n.*1429G>T) n.9101G>T | |
| 6 | g.51753326C= | CA1628510206 | PKHD1 | c.8825G= (p.Arg2942=) c.8696G= (p.Arg2899=) c.8687G= (p.Arg2896=) c.8183G= (p.Arg2728=) c.8114G= (p.Arg2705=) c.2900G= (p.Arg967=) c.8750G= (p.Arg2917=) c.8630G= (p.Arg2877=) c.8561G= (p.Arg2854=) c.6965G= (p.Arg2322=) c.*1429G= (n.*1429G=) n.9101G= | |
| 6 | g.51753326C>G | CA364427163 | PKHD1 | c.8825G>C (p.Arg2942Pro) c.8696G>C (p.Arg2899Pro) c.8687G>C (p.Arg2896Pro) c.8183G>C (p.Arg2728Pro) c.8114G>C (p.Arg2705Pro) c.2900G>C (p.Arg967Pro) c.8750G>C (p.Arg2917Pro) c.8630G>C (p.Arg2877Pro) c.8561G>C (p.Arg2854Pro) c.6965G>C (p.Arg2322Pro) c.*1429G>C (n.*1429G>C) n.9101G>C | |
| 6 | g.51753326C>T | CA138898958 | PKHD1 | c.8825G>A (p.Arg2942Gln) c.8696G>A (p.Arg2899Gln) c.8687G>A (p.Arg2896Gln) c.8183G>A (p.Arg2728Gln) c.8114G>A (p.Arg2705Gln) c.2900G>A (p.Arg967Gln) c.8750G>A (p.Arg2917Gln) c.8630G>A (p.Arg2877Gln) c.8561G>A (p.Arg2854Gln) c.6965G>A (p.Arg2322Gln) c.*1429G>A (n.*1429G>A) n.9101G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51753327G>A | CA224108 | PKHD1 | c.8824C>T (p.Arg2942Ter) c.8695C>T (p.Arg2899Ter) c.8686C>T (p.Arg2896Ter) c.8182C>T (p.Arg2728Ter) c.8113C>T (p.Arg2705Ter) c.2899C>T (p.Arg967Ter) c.8749C>T (p.Arg2917Ter) c.8629C>T (p.Arg2877Ter) c.8560C>T (p.Arg2854Ter) c.6964C>T (p.Arg2322Ter) c.*1428C>T (n.*1428C>T) n.9100C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.51753327G>C | CA364427170 | PKHD1 | c.8824C>G (p.Arg2942Gly) c.8695C>G (p.Arg2899Gly) c.8686C>G (p.Arg2896Gly) c.8182C>G (p.Arg2728Gly) c.8113C>G (p.Arg2705Gly) c.2899C>G (p.Arg967Gly) c.8749C>G (p.Arg2917Gly) c.8629C>G (p.Arg2877Gly) c.8560C>G (p.Arg2854Gly) c.6964C>G (p.Arg2322Gly) c.*1428C>G (n.*1428C>G) n.9100C>G | |
| 6 | g.51753327G= | CA1628510213 | PKHD1 | c.8824C= (p.Arg2942=) c.8695C= (p.Arg2899=) c.8686C= (p.Arg2896=) c.8182C= (p.Arg2728=) c.8113C= (p.Arg2705=) c.2899C= (p.Arg967=) c.8749C= (p.Arg2917=) c.8629C= (p.Arg2877=) c.8560C= (p.Arg2854=) c.6964C= (p.Arg2322=) c.*1428C= (n.*1428C=) n.9100C= | |
| 6 | g.51753327G>T | CA450412708 | PKHD1 | c.8824C>A (p.Arg2942=) c.8695C>A (p.Arg2899=) c.8686C>A (p.Arg2896=) c.8182C>A (p.Arg2728=) c.8113C>A (p.Arg2705=) c.2899C>A (p.Arg967=) c.8749C>A (p.Arg2917=) c.8629C>A (p.Arg2877=) c.8560C>A (p.Arg2854=) c.6964C>A (p.Arg2322=) c.*1428C>A (n.*1428C>A) n.9100C>A | |
| 6 | g.51753328G>A | CA450412710 | PKHD1 | c.8823C>T (p.Gly2941=) c.8694C>T (p.Gly2898=) c.8685C>T (p.Gly2895=) c.8181C>T (p.Gly2727=) c.8112C>T (p.Gly2704=) c.2898C>T (p.Gly966=) c.8748C>T (p.Gly2916=) c.8628C>T (p.Gly2876=) c.8559C>T (p.Gly2853=) c.6963C>T (p.Gly2321=) c.*1427C>T (n.*1427C>T) n.9099C>T | gnomAD v4 |
| 6 | g.51753328G>C | CA3851509 | PKHD1 | c.8823C>G (p.Gly2941=) c.8694C>G (p.Gly2898=) c.8685C>G (p.Gly2895=) c.8181C>G (p.Gly2727=) c.8112C>G (p.Gly2704=) c.2898C>G (p.Gly966=) c.8748C>G (p.Gly2916=) c.8628C>G (p.Gly2876=) c.8559C>G (p.Gly2853=) c.6963C>G (p.Gly2321=) c.*1427C>G (n.*1427C>G) n.9099C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51753328G= | CA1628510231 | PKHD1 | c.8823C= (p.Gly2941=) c.8694C= (p.Gly2898=) c.8685C= (p.Gly2895=) c.8181C= (p.Gly2727=) c.8112C= (p.Gly2704=) c.2898C= (p.Gly966=) c.8748C= (p.Gly2916=) c.8628C= (p.Gly2876=) c.8559C= (p.Gly2853=) c.6963C= (p.Gly2321=) c.*1427C= (n.*1427C=) n.9099C= | |
| 6 | g.51753328G>T | CA450412711 | PKHD1 | c.8823C>A (p.Gly2941=) c.8694C>A (p.Gly2898=) c.8685C>A (p.Gly2895=) c.8181C>A (p.Gly2727=) c.8112C>A (p.Gly2704=) c.2898C>A (p.Gly966=) c.8748C>A (p.Gly2916=) c.8628C>A (p.Gly2876=) c.8559C>A (p.Gly2853=) c.6963C>A (p.Gly2321=) c.*1427C>A (n.*1427C>A) n.9099C>A | |
| 6 | g.51753329C>A | CA364427174 | PKHD1 | c.8822G>T (p.Gly2941Val) c.8693G>T (p.Gly2898Val) c.8684G>T (p.Gly2895Val) c.8180G>T (p.Gly2727Val) c.8111G>T (p.Gly2704Val) c.2897G>T (p.Gly966Val) c.8747G>T (p.Gly2916Val) c.8627G>T (p.Gly2876Val) c.8558G>T (p.Gly2853Val) c.6962G>T (p.Gly2321Val) c.*1426G>T (n.*1426G>T) n.9098G>T | |
| 6 | g.51753329C>G | CA364427176 | PKHD1 | c.8822G>C (p.Gly2941Ala) c.8693G>C (p.Gly2898Ala) c.8684G>C (p.Gly2895Ala) c.8180G>C (p.Gly2727Ala) c.8111G>C (p.Gly2704Ala) c.2897G>C (p.Gly966Ala) c.8747G>C (p.Gly2916Ala) c.8627G>C (p.Gly2876Ala) c.8558G>C (p.Gly2853Ala) c.6962G>C (p.Gly2321Ala) c.*1426G>C (n.*1426G>C) n.9098G>C | |
| 6 | g.51753329C>T | CA364427179 | PKHD1 | c.8822G>A (p.Gly2941Asp) c.8693G>A (p.Gly2898Asp) c.8684G>A (p.Gly2895Asp) c.8180G>A (p.Gly2727Asp) c.8111G>A (p.Gly2704Asp) c.2897G>A (p.Gly966Asp) c.8747G>A (p.Gly2916Asp) c.8627G>A (p.Gly2876Asp) c.8558G>A (p.Gly2853Asp) c.6962G>A (p.Gly2321Asp) c.*1426G>A (n.*1426G>A) n.9098G>A | |
| 6 | g.51753330C>A | CA364427185 | PKHD1 | c.8821G>T (p.Gly2941Cys) c.8692G>T (p.Gly2898Cys) c.8683G>T (p.Gly2895Cys) c.8179G>T (p.Gly2727Cys) c.8110G>T (p.Gly2704Cys) c.2896G>T (p.Gly966Cys) c.8746G>T (p.Gly2916Cys) c.8626G>T (p.Gly2876Cys) c.8557G>T (p.Gly2853Cys) c.6961G>T (p.Gly2321Cys) c.*1425G>T (n.*1425G>T) n.9097G>T | |
| 6 | g.51753330C= | CA1628510234 | PKHD1 | c.8821G= (p.Gly2941=) c.8692G= (p.Gly2898=) c.8683G= (p.Gly2895=) c.8179G= (p.Gly2727=) c.8110G= (p.Gly2704=) c.2896G= (p.Gly966=) c.8746G= (p.Gly2916=) c.8626G= (p.Gly2876=) c.8557G= (p.Gly2853=) c.6961G= (p.Gly2321=) c.*1425G= (n.*1425G=) n.9097G= | |
| 6 | g.51753330C>G | CA364427187 | PKHD1 | c.8821G>C (p.Gly2941Arg) c.8692G>C (p.Gly2898Arg) c.8683G>C (p.Gly2895Arg) c.8179G>C (p.Gly2727Arg) c.8110G>C (p.Gly2704Arg) c.2896G>C (p.Gly966Arg) c.8746G>C (p.Gly2916Arg) c.8626G>C (p.Gly2876Arg) c.8557G>C (p.Gly2853Arg) c.6961G>C (p.Gly2321Arg) c.*1425G>C (n.*1425G>C) n.9097G>C | |
| 6 | g.51753330C>T | CA364427183 | PKHD1 | c.8821G>A (p.Gly2941Ser) c.8692G>A (p.Gly2898Ser) c.8683G>A (p.Gly2895Ser) c.8179G>A (p.Gly2727Ser) c.8110G>A (p.Gly2704Ser) c.2896G>A (p.Gly966Ser) c.8746G>A (p.Gly2916Ser) c.8626G>A (p.Gly2876Ser) c.8557G>A (p.Gly2853Ser) c.6961G>A (p.Gly2321Ser) c.*1425G>A (n.*1425G>A) n.9097G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.51753331A= | CA1628510238 | PKHD1 | c.8820T= (p.Asp2940=) c.8691T= (p.Asp2897=) c.8682T= (p.Asp2894=) c.8178T= (p.Asp2726=) c.8109T= (p.Asp2703=) c.2895T= (p.Asp965=) c.8745T= (p.Asp2915=) c.8625T= (p.Asp2875=) c.8556T= (p.Asp2852=) c.6960T= (p.Asp2320=) c.*1424T= (n.*1424T=) n.9096T= | |
| 6 | g.51753331A>C | CA364427193 | PKHD1 | c.8820T>G (p.Asp2940Glu) c.8691T>G (p.Asp2897Glu) c.8682T>G (p.Asp2894Glu) c.8178T>G (p.Asp2726Glu) c.8109T>G (p.Asp2703Glu) c.2895T>G (p.Asp965Glu) c.8745T>G (p.Asp2915Glu) c.8625T>G (p.Asp2875Glu) c.8556T>G (p.Asp2852Glu) c.6960T>G (p.Asp2320Glu) c.*1424T>G (n.*1424T>G) n.9096T>G | |
| 6 | g.51753331A>G | CA3851510 | PKHD1 | c.8820T>C (p.Asp2940=) c.8691T>C (p.Asp2897=) c.8682T>C (p.Asp2894=) c.8178T>C (p.Asp2726=) c.8109T>C (p.Asp2703=) c.2895T>C (p.Asp965=) c.8745T>C (p.Asp2915=) c.8625T>C (p.Asp2875=) c.8556T>C (p.Asp2852=) c.6960T>C (p.Asp2320=) c.*1424T>C (n.*1424T>C) n.9096T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.51753331A>T | CA364427191 | PKHD1 | c.8820T>A (p.Asp2940Glu) c.8691T>A (p.Asp2897Glu) c.8682T>A (p.Asp2894Glu) c.8178T>A (p.Asp2726Glu) c.8109T>A (p.Asp2703Glu) c.2895T>A (p.Asp965Glu) c.8745T>A (p.Asp2915Glu) c.8625T>A (p.Asp2875Glu) c.8556T>A (p.Asp2852Glu) c.6960T>A (p.Asp2320Glu) c.*1424T>A (n.*1424T>A) n.9096T>A | |
| 6 | g.51753332T>A | CA364427197 | PKHD1 | c.8819A>T (p.Asp2940Val) c.8690A>T (p.Asp2897Val) c.8681A>T (p.Asp2894Val) c.8177A>T (p.Asp2726Val) c.8108A>T (p.Asp2703Val) c.2894A>T (p.Asp965Val) c.8744A>T (p.Asp2915Val) c.8624A>T (p.Asp2875Val) c.8555A>T (p.Asp2852Val) c.6959A>T (p.Asp2320Val) c.*1423A>T (n.*1423A>T) n.9095A>T | |
| 6 | g.51753332T>C | CA364427199 | PKHD1 | c.8819A>G (p.Asp2940Gly) c.8690A>G (p.Asp2897Gly) c.8681A>G (p.Asp2894Gly) c.8177A>G (p.Asp2726Gly) c.8108A>G (p.Asp2703Gly) c.2894A>G (p.Asp965Gly) c.8744A>G (p.Asp2915Gly) c.8624A>G (p.Asp2875Gly) c.8555A>G (p.Asp2852Gly) c.6959A>G (p.Asp2320Gly) c.*1423A>G (n.*1423A>G) n.9095A>G |