Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51748221A>C | CA364421163 | PKHD1 | c.9395T>G (p.Leu3132Arg) c.9266T>G (p.Leu3089Arg) c.9257T>G (p.Leu3086Arg) c.8753T>G (p.Leu2918Arg) c.8684T>G (p.Leu2895Arg) c.3470T>G (p.Leu1157Arg) c.9320T>G (p.Leu3107Arg) c.9200T>G (p.Leu3067Arg) c.9131T>G (p.Leu3044Arg) c.7535T>G (p.Leu2512Arg) n.9671T>G | |
6 | g.51748221A>G | CA364421164 | PKHD1 | c.9395T>C (p.Leu3132Pro) c.9266T>C (p.Leu3089Pro) c.9257T>C (p.Leu3086Pro) c.8753T>C (p.Leu2918Pro) c.8684T>C (p.Leu2895Pro) c.3470T>C (p.Leu1157Pro) c.9320T>C (p.Leu3107Pro) c.9200T>C (p.Leu3067Pro) c.9131T>C (p.Leu3044Pro) c.7535T>C (p.Leu2512Pro) n.9671T>C | |
6 | g.51748221A>T | CA364421165 | PKHD1 | c.9395T>A (p.Leu3132His) c.9266T>A (p.Leu3089His) c.9257T>A (p.Leu3086His) c.8753T>A (p.Leu2918His) c.8684T>A (p.Leu2895His) c.3470T>A (p.Leu1157His) c.9320T>A (p.Leu3107His) c.9200T>A (p.Leu3067His) c.9131T>A (p.Leu3044His) c.7535T>A (p.Leu2512His) n.9671T>A | gnomAD v4 |
6 | g.51748222G>A | CA364421168 | PKHD1 | c.9394C>T (p.Leu3132Phe) c.9265C>T (p.Leu3089Phe) c.9256C>T (p.Leu3086Phe) c.8752C>T (p.Leu2918Phe) c.8683C>T (p.Leu2895Phe) c.3469C>T (p.Leu1157Phe) c.9319C>T (p.Leu3107Phe) c.9199C>T (p.Leu3067Phe) c.9130C>T (p.Leu3044Phe) c.7534C>T (p.Leu2512Phe) n.9670C>T | |
6 | g.51748222G>C | CA364421166 | PKHD1 | c.9394C>G (p.Leu3132Val) c.9265C>G (p.Leu3089Val) c.9256C>G (p.Leu3086Val) c.8752C>G (p.Leu2918Val) c.8683C>G (p.Leu2895Val) c.3469C>G (p.Leu1157Val) c.9319C>G (p.Leu3107Val) c.9199C>G (p.Leu3067Val) c.9130C>G (p.Leu3044Val) c.7534C>G (p.Leu2512Val) n.9670C>G | |
6 | g.51748222G>T | CA364421167 | PKHD1 | c.9394C>A (p.Leu3132Ile) c.9265C>A (p.Leu3089Ile) c.9256C>A (p.Leu3086Ile) c.8752C>A (p.Leu2918Ile) c.8683C>A (p.Leu2895Ile) c.3469C>A (p.Leu1157Ile) c.9319C>A (p.Leu3107Ile) c.9199C>A (p.Leu3067Ile) c.9130C>A (p.Leu3044Ile) c.7534C>A (p.Leu2512Ile) n.9670C>A | |
6 | g.51748223A= | CA1628502797 | PKHD1 | c.9393T= (p.His3131=) c.9264T= (p.His3088=) c.9255T= (p.His3085=) c.8751T= (p.His2917=) c.8682T= (p.His2894=) c.3468T= (p.His1156=) c.9318T= (p.His3106=) c.9198T= (p.His3066=) c.9129T= (p.His3043=) c.7533T= (p.His2511=) n.9669T= | |
6 | g.51748223A>C | CA364421169 | PKHD1 | c.9393T>G (p.His3131Gln) c.9264T>G (p.His3088Gln) c.9255T>G (p.His3085Gln) c.8751T>G (p.His2917Gln) c.8682T>G (p.His2894Gln) c.3468T>G (p.His1156Gln) c.9318T>G (p.His3106Gln) c.9198T>G (p.His3066Gln) c.9129T>G (p.His3043Gln) c.7533T>G (p.His2511Gln) n.9669T>G | |
6 | g.51748223A>G | CA450613782 | PKHD1 | c.9393T>C (p.His3131=) c.9264T>C (p.His3088=) c.9255T>C (p.His3085=) c.8751T>C (p.His2917=) c.8682T>C (p.His2894=) c.3468T>C (p.His1156=) c.9318T>C (p.His3106=) c.9198T>C (p.His3066=) c.9129T>C (p.His3043=) c.7533T>C (p.His2511=) n.9669T>C | |
6 | g.51748223A>T | CA364421170 | PKHD1 | c.9393T>A (p.His3131Gln) c.9264T>A (p.His3088Gln) c.9255T>A (p.His3085Gln) c.8751T>A (p.His2917Gln) c.8682T>A (p.His2894Gln) c.3468T>A (p.His1156Gln) c.9318T>A (p.His3106Gln) c.9198T>A (p.His3066Gln) c.9129T>A (p.His3043Gln) c.7533T>A (p.His2511Gln) n.9669T>A | dbSNP |
6 | g.51748224T>A | CA364421171 | PKHD1 | c.9392A>T (p.His3131Leu) c.9263A>T (p.His3088Leu) c.9254A>T (p.His3085Leu) c.8750A>T (p.His2917Leu) c.8681A>T (p.His2894Leu) c.3467A>T (p.His1156Leu) c.9317A>T (p.His3106Leu) c.9197A>T (p.His3066Leu) c.9128A>T (p.His3043Leu) c.7532A>T (p.His2511Leu) n.9668A>T | |
6 | g.51748224T>C | CA364421172 | PKHD1 | c.9392A>G (p.His3131Arg) c.9263A>G (p.His3088Arg) c.9254A>G (p.His3085Arg) c.8750A>G (p.His2917Arg) c.8681A>G (p.His2894Arg) c.3467A>G (p.His1156Arg) c.9317A>G (p.His3106Arg) c.9197A>G (p.His3066Arg) c.9128A>G (p.His3043Arg) c.7532A>G (p.His2511Arg) n.9668A>G | |
6 | g.51748224T>G | CA364421173 | PKHD1 | c.9392A>C (p.His3131Pro) c.9263A>C (p.His3088Pro) c.9254A>C (p.His3085Pro) c.8750A>C (p.His2917Pro) c.8681A>C (p.His2894Pro) c.3467A>C (p.His1156Pro) c.9317A>C (p.His3106Pro) c.9197A>C (p.His3066Pro) c.9128A>C (p.His3043Pro) c.7532A>C (p.His2511Pro) n.9668A>C | |
6 | g.51748225G>A | CA10605667 | PKHD1 | c.9391C>T (p.His3131Tyr) c.9262C>T (p.His3088Tyr) c.9253C>T (p.His3085Tyr) c.8749C>T (p.His2917Tyr) c.8680C>T (p.His2894Tyr) c.3466C>T (p.His1156Tyr) c.9316C>T (p.His3106Tyr) c.9196C>T (p.His3066Tyr) c.9127C>T (p.His3043Tyr) c.7531C>T (p.His2511Tyr) n.9667C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.51748225G>C | CA364421174 | PKHD1 | c.9391C>G (p.His3131Asp) c.9262C>G (p.His3088Asp) c.9253C>G (p.His3085Asp) c.8749C>G (p.His2917Asp) c.8680C>G (p.His2894Asp) c.3466C>G (p.His1156Asp) c.9316C>G (p.His3106Asp) c.9196C>G (p.His3066Asp) c.9127C>G (p.His3043Asp) c.7531C>G (p.His2511Asp) n.9667C>G | |
6 | g.51748225G= | CA1628502805 | PKHD1 | c.9391C= (p.His3131=) c.9262C= (p.His3088=) c.9253C= (p.His3085=) c.8749C= (p.His2917=) c.8680C= (p.His2894=) c.3466C= (p.His1156=) c.9316C= (p.His3106=) c.9196C= (p.His3066=) c.9127C= (p.His3043=) c.7531C= (p.His2511=) n.9667C= | |
6 | g.51748225G>T | CA364421175 | PKHD1 | c.9391C>A (p.His3131Asn) c.9262C>A (p.His3088Asn) c.9253C>A (p.His3085Asn) c.8749C>A (p.His2917Asn) c.8680C>A (p.His2894Asn) c.3466C>A (p.His1156Asn) c.9316C>A (p.His3106Asn) c.9196C>A (p.His3066Asn) c.9127C>A (p.His3043Asn) c.7531C>A (p.His2511Asn) n.9667C>A | |
6 | g.51748226A>C | CA450613784 | PKHD1 | c.9390T>G (p.Leu3130=) c.9261T>G (p.Leu3087=) c.9252T>G (p.Leu3084=) c.8748T>G (p.Leu2916=) c.8679T>G (p.Leu2893=) c.3465T>G (p.Leu1155=) c.9315T>G (p.Leu3105=) c.9195T>G (p.Leu3065=) c.9126T>G (p.Leu3042=) c.7530T>G (p.Leu2510=) n.9666T>G | |
6 | g.51748226A>G | CA450613785 | PKHD1 | c.9390T>C (p.Leu3130=) c.9261T>C (p.Leu3087=) c.9252T>C (p.Leu3084=) c.8748T>C (p.Leu2916=) c.8679T>C (p.Leu2893=) c.3465T>C (p.Leu1155=) c.9315T>C (p.Leu3105=) c.9195T>C (p.Leu3065=) c.9126T>C (p.Leu3042=) c.7530T>C (p.Leu2510=) n.9666T>C | |
6 | g.51748226A>T | CA450613786 | PKHD1 | c.9390T>A (p.Leu3130=) c.9261T>A (p.Leu3087=) c.9252T>A (p.Leu3084=) c.8748T>A (p.Leu2916=) c.8679T>A (p.Leu2893=) c.3465T>A (p.Leu1155=) c.9315T>A (p.Leu3105=) c.9195T>A (p.Leu3065=) c.9126T>A (p.Leu3042=) c.7530T>A (p.Leu2510=) n.9666T>A | |
6 | g.51748227A>C | CA364421176 | PKHD1 | c.9389T>G (p.Leu3130Arg) c.9260T>G (p.Leu3087Arg) c.9251T>G (p.Leu3084Arg) c.8747T>G (p.Leu2916Arg) c.8678T>G (p.Leu2893Arg) c.3464T>G (p.Leu1155Arg) c.9314T>G (p.Leu3105Arg) c.9194T>G (p.Leu3065Arg) c.9125T>G (p.Leu3042Arg) c.7529T>G (p.Leu2510Arg) n.9665T>G | |
6 | g.51748227A>G | CA364421177 | PKHD1 | c.9389T>C (p.Leu3130Pro) c.9260T>C (p.Leu3087Pro) c.9251T>C (p.Leu3084Pro) c.8747T>C (p.Leu2916Pro) c.8678T>C (p.Leu2893Pro) c.3464T>C (p.Leu1155Pro) c.9314T>C (p.Leu3105Pro) c.9194T>C (p.Leu3065Pro) c.9125T>C (p.Leu3042Pro) c.7529T>C (p.Leu2510Pro) n.9665T>C | |
6 | g.51748227A>T | CA364421178 | PKHD1 | c.9389T>A (p.Leu3130His) c.9260T>A (p.Leu3087His) c.9251T>A (p.Leu3084His) c.8747T>A (p.Leu2916His) c.8678T>A (p.Leu2893His) c.3464T>A (p.Leu1155His) c.9314T>A (p.Leu3105His) c.9194T>A (p.Leu3065His) c.9125T>A (p.Leu3042His) c.7529T>A (p.Leu2510His) n.9665T>A | |
6 | g.51748228G>A | CA364421181 | PKHD1 | c.9388C>T (p.Leu3130Phe) c.9259C>T (p.Leu3087Phe) c.9250C>T (p.Leu3084Phe) c.8746C>T (p.Leu2916Phe) c.8677C>T (p.Leu2893Phe) c.3463C>T (p.Leu1155Phe) c.9313C>T (p.Leu3105Phe) c.9193C>T (p.Leu3065Phe) c.9124C>T (p.Leu3042Phe) c.7528C>T (p.Leu2510Phe) n.9664C>T | |
6 | g.51748228G>C | CA364421180 | PKHD1 | c.9388C>G (p.Leu3130Val) c.9259C>G (p.Leu3087Val) c.9250C>G (p.Leu3084Val) c.8746C>G (p.Leu2916Val) c.8677C>G (p.Leu2893Val) c.3463C>G (p.Leu1155Val) c.9313C>G (p.Leu3105Val) c.9193C>G (p.Leu3065Val) c.9124C>G (p.Leu3042Val) c.7528C>G (p.Leu2510Val) n.9664C>G | |
6 | g.51748228G>T | CA364421179 | PKHD1 | c.9388C>A (p.Leu3130Ile) c.9259C>A (p.Leu3087Ile) c.9250C>A (p.Leu3084Ile) c.8746C>A (p.Leu2916Ile) c.8677C>A (p.Leu2893Ile) c.3463C>A (p.Leu1155Ile) c.9313C>A (p.Leu3105Ile) c.9193C>A (p.Leu3065Ile) c.9124C>A (p.Leu3042Ile) c.7528C>A (p.Leu2510Ile) n.9664C>A | |
6 | g.51748229G>A | CA3851396 | PKHD1 | c.9387C>T (p.Gly3129=) c.9258C>T (p.Gly3086=) c.9249C>T (p.Gly3083=) c.8745C>T (p.Gly2915=) c.8676C>T (p.Gly2892=) c.3462C>T (p.Gly1154=) c.9312C>T (p.Gly3104=) c.9192C>T (p.Gly3064=) c.9123C>T (p.Gly3041=) c.7527C>T (p.Gly2509=) n.9663C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748229G>C | CA450613788 | PKHD1 | c.9387C>G (p.Gly3129=) c.9258C>G (p.Gly3086=) c.9249C>G (p.Gly3083=) c.8745C>G (p.Gly2915=) c.8676C>G (p.Gly2892=) c.3462C>G (p.Gly1154=) c.9312C>G (p.Gly3104=) c.9192C>G (p.Gly3064=) c.9123C>G (p.Gly3041=) c.7527C>G (p.Gly2509=) n.9663C>G | |
6 | g.51748229G= | CA1628502812 | PKHD1 | c.9387C= (p.Gly3129=) c.9258C= (p.Gly3086=) c.9249C= (p.Gly3083=) c.8745C= (p.Gly2915=) c.8676C= (p.Gly2892=) c.3462C= (p.Gly1154=) c.9312C= (p.Gly3104=) c.9192C= (p.Gly3064=) c.9123C= (p.Gly3041=) c.7527C= (p.Gly2509=) n.9663C= | |
6 | g.51748229G>T | CA450613789 | PKHD1 | c.9387C>A (p.Gly3129=) c.9258C>A (p.Gly3086=) c.9249C>A (p.Gly3083=) c.8745C>A (p.Gly2915=) c.8676C>A (p.Gly2892=) c.3462C>A (p.Gly1154=) c.9312C>A (p.Gly3104=) c.9192C>A (p.Gly3064=) c.9123C>A (p.Gly3041=) c.7527C>A (p.Gly2509=) n.9663C>A | COSMIC COSMIC |
6 | g.51748229_51748230delinsGC | CA1628502814 | PKHD1 | c.9386_9387delinsGC (p.Gly3129=) c.9257_9258delinsGC (p.Gly3086=) c.9248_9249delinsGC (p.Gly3083=) c.8744_8745delinsGC (p.Gly2915=) c.8675_8676delinsGC (p.Gly2892=) c.3461_3462delinsGC (p.Gly1154=) c.9311_9312delinsGC (p.Gly3104=) c.9191_9192delinsGC (p.Gly3064=) c.9122_9123delinsGC (p.Gly3041=) c.7526_7527delinsGC (p.Gly2509=) n.9662_9663delinsGC | |
6 | g.51748230C>A | CA364421182 | PKHD1 | c.9386G>T (p.Gly3129Val) c.9257G>T (p.Gly3086Val) c.9248G>T (p.Gly3083Val) c.8744G>T (p.Gly2915Val) c.8675G>T (p.Gly2892Val) c.3461G>T (p.Gly1154Val) c.9311G>T (p.Gly3104Val) c.9191G>T (p.Gly3064Val) c.9122G>T (p.Gly3041Val) c.7526G>T (p.Gly2509Val) n.9662G>T | |
6 | g.51748230C>G | CA364421183 | PKHD1 | c.9386G>C (p.Gly3129Ala) c.9257G>C (p.Gly3086Ala) c.9248G>C (p.Gly3083Ala) c.8744G>C (p.Gly2915Ala) c.8675G>C (p.Gly2892Ala) c.3461G>C (p.Gly1154Ala) c.9311G>C (p.Gly3104Ala) c.9191G>C (p.Gly3064Ala) c.9122G>C (p.Gly3041Ala) c.7526G>C (p.Gly2509Ala) n.9662G>C | |
6 | g.51748230C>T | CA364421184 | PKHD1 | c.9386G>A (p.Gly3129Asp) c.9257G>A (p.Gly3086Asp) c.9248G>A (p.Gly3083Asp) c.8744G>A (p.Gly2915Asp) c.8675G>A (p.Gly2892Asp) c.3461G>A (p.Gly1154Asp) c.9311G>A (p.Gly3104Asp) c.9191G>A (p.Gly3064Asp) c.9122G>A (p.Gly3041Asp) c.7526G>A (p.Gly2509Asp) n.9662G>A | |
6 | g.51748231del | CA1139659316 | PKHD1 | c.9386del (p.Gly3129AlafsTer?) c.9257del (p.Gly3086AlafsTer?) c.9248del (p.Gly3083AlafsTer?) c.8744del (p.Gly2915AlafsTer?) c.8675del (p.Gly2892AlafsTer?) c.3461del (p.Gly1154AlafsTer?) c.9311del (p.Gly3104AlafsTer?) c.9191del (p.Gly3064AlafsTer?) c.9122del (p.Gly3041AlafsTer?) c.7526del (p.Gly2509AlafsTer?) n.9662del | ClinVar dbSNP |
6 | g.51748231C>A | CA364421185 | PKHD1 | c.9385G>T (p.Gly3129Cys) c.9256G>T (p.Gly3086Cys) c.9247G>T (p.Gly3083Cys) c.8743G>T (p.Gly2915Cys) c.8674G>T (p.Gly2892Cys) c.3460G>T (p.Gly1154Cys) c.9310G>T (p.Gly3104Cys) c.9190G>T (p.Gly3064Cys) c.9121G>T (p.Gly3041Cys) c.7525G>T (p.Gly2509Cys) n.9661G>T | |
6 | g.51748231C>G | CA364421186 | PKHD1 | c.9385G>C (p.Gly3129Arg) c.9256G>C (p.Gly3086Arg) c.9247G>C (p.Gly3083Arg) c.8743G>C (p.Gly2915Arg) c.8674G>C (p.Gly2892Arg) c.3460G>C (p.Gly1154Arg) c.9310G>C (p.Gly3104Arg) c.9190G>C (p.Gly3064Arg) c.9121G>C (p.Gly3041Arg) c.7525G>C (p.Gly2509Arg) n.9661G>C | |
6 | g.51748231C>T | CA364421187 | PKHD1 | c.9385G>A (p.Gly3129Ser) c.9256G>A (p.Gly3086Ser) c.9247G>A (p.Gly3083Ser) c.8743G>A (p.Gly2915Ser) c.8674G>A (p.Gly2892Ser) c.3460G>A (p.Gly1154Ser) c.9310G>A (p.Gly3104Ser) c.9190G>A (p.Gly3064Ser) c.9121G>A (p.Gly3041Ser) c.7525G>A (p.Gly2509Ser) n.9661G>A | |
6 | g.51748232A>C | CA364421188 | PKHD1 | c.9384T>G (p.His3128Gln) c.9255T>G (p.His3085Gln) c.9246T>G (p.His3082Gln) c.8742T>G (p.His2914Gln) c.8673T>G (p.His2891Gln) c.3459T>G (p.His1153Gln) c.9309T>G (p.His3103Gln) c.9189T>G (p.His3063Gln) c.9120T>G (p.His3040Gln) c.7524T>G (p.His2508Gln) n.9660T>G | |
6 | g.51748232A>G | CA450613793 | PKHD1 | c.9384T>C (p.His3128=) c.9255T>C (p.His3085=) c.9246T>C (p.His3082=) c.8742T>C (p.His2914=) c.8673T>C (p.His2891=) c.3459T>C (p.His1153=) c.9309T>C (p.His3103=) c.9189T>C (p.His3063=) c.9120T>C (p.His3040=) c.7524T>C (p.His2508=) n.9660T>C | ClinVar dbSNP gnomAD v4 |
6 | g.51748232A>T | CA364421189 | PKHD1 | c.9384T>A (p.His3128Gln) c.9255T>A (p.His3085Gln) c.9246T>A (p.His3082Gln) c.8742T>A (p.His2914Gln) c.8673T>A (p.His2891Gln) c.3459T>A (p.His1153Gln) c.9309T>A (p.His3103Gln) c.9189T>A (p.His3063Gln) c.9120T>A (p.His3040Gln) c.7524T>A (p.His2508Gln) n.9660T>A | |
6 | g.51748233T>A | CA364421190 | PKHD1 | c.9383A>T (p.His3128Leu) c.9254A>T (p.His3085Leu) c.9245A>T (p.His3082Leu) c.8741A>T (p.His2914Leu) c.8672A>T (p.His2891Leu) c.3458A>T (p.His1153Leu) c.9308A>T (p.His3103Leu) c.9188A>T (p.His3063Leu) c.9119A>T (p.His3040Leu) c.7523A>T (p.His2508Leu) n.9659A>T | |
6 | g.51748233T>C | CA364421191 | PKHD1 | c.9383A>G (p.His3128Arg) c.9254A>G (p.His3085Arg) c.9245A>G (p.His3082Arg) c.8741A>G (p.His2914Arg) c.8672A>G (p.His2891Arg) c.3458A>G (p.His1153Arg) c.9308A>G (p.His3103Arg) c.9188A>G (p.His3063Arg) c.9119A>G (p.His3040Arg) c.7523A>G (p.His2508Arg) n.9659A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748233T>G | CA364421192 | PKHD1 | c.9383A>C (p.His3128Pro) c.9254A>C (p.His3085Pro) c.9245A>C (p.His3082Pro) c.8741A>C (p.His2914Pro) c.8672A>C (p.His2891Pro) c.3458A>C (p.His1153Pro) c.9308A>C (p.His3103Pro) c.9188A>C (p.His3063Pro) c.9119A>C (p.His3040Pro) c.7523A>C (p.His2508Pro) n.9659A>C | ClinVar dbSNP gnomAD v4 |
6 | g.51748233T= | CA1628502823 | PKHD1 | c.9383A= (p.His3128=) c.9254A= (p.His3085=) c.9245A= (p.His3082=) c.8741A= (p.His2914=) c.8672A= (p.His2891=) c.3458A= (p.His1153=) c.9308A= (p.His3103=) c.9188A= (p.His3063=) c.9119A= (p.His3040=) c.7523A= (p.His2508=) n.9659A= | |
6 | g.51748234G>A | CA364421194 | PKHD1 | c.9382C>T (p.His3128Tyr) c.9253C>T (p.His3085Tyr) c.9244C>T (p.His3082Tyr) c.8740C>T (p.His2914Tyr) c.8671C>T (p.His2891Tyr) c.3457C>T (p.His1153Tyr) c.9307C>T (p.His3103Tyr) c.9187C>T (p.His3063Tyr) c.9118C>T (p.His3040Tyr) c.7522C>T (p.His2508Tyr) n.9658C>T | |
6 | g.51748234G>C | CA364421195 | PKHD1 | c.9382C>G (p.His3128Asp) c.9253C>G (p.His3085Asp) c.9244C>G (p.His3082Asp) c.8740C>G (p.His2914Asp) c.8671C>G (p.His2891Asp) c.3457C>G (p.His1153Asp) c.9307C>G (p.His3103Asp) c.9187C>G (p.His3063Asp) c.9118C>G (p.His3040Asp) c.7522C>G (p.His2508Asp) n.9658C>G | |
6 | g.51748234G>T | CA364421193 | PKHD1 | c.9382C>A (p.His3128Asn) c.9253C>A (p.His3085Asn) c.9244C>A (p.His3082Asn) c.8740C>A (p.His2914Asn) c.8671C>A (p.His2891Asn) c.3457C>A (p.His1153Asn) c.9307C>A (p.His3103Asn) c.9187C>A (p.His3063Asn) c.9118C>A (p.His3040Asn) c.7522C>A (p.His2508Asn) n.9658C>A | |
6 | g.51748235A>C | CA450613797 | PKHD1 | c.9381T>G (p.Leu3127=) c.9252T>G (p.Leu3084=) c.9243T>G (p.Leu3081=) c.8739T>G (p.Leu2913=) c.8670T>G (p.Leu2890=) c.3456T>G (p.Leu1152=) c.9306T>G (p.Leu3102=) c.9186T>G (p.Leu3062=) c.9117T>G (p.Leu3039=) c.7521T>G (p.Leu2507=) n.9657T>G | |
6 | g.51748235A>G | CA450613798 | PKHD1 | c.9381T>C (p.Leu3127=) c.9252T>C (p.Leu3084=) c.9243T>C (p.Leu3081=) c.8739T>C (p.Leu2913=) c.8670T>C (p.Leu2890=) c.3456T>C (p.Leu1152=) c.9306T>C (p.Leu3102=) c.9186T>C (p.Leu3062=) c.9117T>C (p.Leu3039=) c.7521T>C (p.Leu2507=) n.9657T>C | |
6 | g.51748235A>T | CA450613799 | PKHD1 | c.9381T>A (p.Leu3127=) c.9252T>A (p.Leu3084=) c.9243T>A (p.Leu3081=) c.8739T>A (p.Leu2913=) c.8670T>A (p.Leu2890=) c.3456T>A (p.Leu1152=) c.9306T>A (p.Leu3102=) c.9186T>A (p.Leu3062=) c.9117T>A (p.Leu3039=) c.7521T>A (p.Leu2507=) n.9657T>A | |
6 | g.51748236A= | CA1628502826 | PKHD1 | c.9380T= (p.Leu3127=) c.9251T= (p.Leu3084=) c.9242T= (p.Leu3081=) c.8738T= (p.Leu2913=) c.8669T= (p.Leu2890=) c.3455T= (p.Leu1152=) c.9305T= (p.Leu3102=) c.9185T= (p.Leu3062=) c.9116T= (p.Leu3039=) c.7520T= (p.Leu2507=) n.9656T= | |
6 | g.51748236A>C | CA364421196 | PKHD1 | c.9380T>G (p.Leu3127Arg) c.9251T>G (p.Leu3084Arg) c.9242T>G (p.Leu3081Arg) c.8738T>G (p.Leu2913Arg) c.8669T>G (p.Leu2890Arg) c.3455T>G (p.Leu1152Arg) c.9305T>G (p.Leu3102Arg) c.9185T>G (p.Leu3062Arg) c.9116T>G (p.Leu3039Arg) c.7520T>G (p.Leu2507Arg) n.9656T>G | dbSNP gnomAD v2 |
6 | g.51748236A>G | CA364421197 | PKHD1 | c.9380T>C (p.Leu3127Pro) c.9251T>C (p.Leu3084Pro) c.9242T>C (p.Leu3081Pro) c.8738T>C (p.Leu2913Pro) c.8669T>C (p.Leu2890Pro) c.3455T>C (p.Leu1152Pro) c.9305T>C (p.Leu3102Pro) c.9185T>C (p.Leu3062Pro) c.9116T>C (p.Leu3039Pro) c.7520T>C (p.Leu2507Pro) n.9656T>C | |
6 | g.51748236A>T | CA364421198 | PKHD1 | c.9380T>A (p.Leu3127His) c.9251T>A (p.Leu3084His) c.9242T>A (p.Leu3081His) c.8738T>A (p.Leu2913His) c.8669T>A (p.Leu2890His) c.3455T>A (p.Leu1152His) c.9305T>A (p.Leu3102His) c.9185T>A (p.Leu3062His) c.9116T>A (p.Leu3039His) c.7520T>A (p.Leu2507His) n.9656T>A | |
6 | g.51748237G>A | CA364421199 | PKHD1 | c.9379C>T (p.Leu3127Phe) c.9250C>T (p.Leu3084Phe) c.9241C>T (p.Leu3081Phe) c.8737C>T (p.Leu2913Phe) c.8668C>T (p.Leu2890Phe) c.3454C>T (p.Leu1152Phe) c.9304C>T (p.Leu3102Phe) c.9184C>T (p.Leu3062Phe) c.9115C>T (p.Leu3039Phe) c.7519C>T (p.Leu2507Phe) n.9655C>T | gnomAD v4 COSMIC COSMIC |
6 | g.51748237G>C | CA364421200 | PKHD1 | c.9379C>G (p.Leu3127Val) c.9250C>G (p.Leu3084Val) c.9241C>G (p.Leu3081Val) c.8737C>G (p.Leu2913Val) c.8668C>G (p.Leu2890Val) c.3454C>G (p.Leu1152Val) c.9304C>G (p.Leu3102Val) c.9184C>G (p.Leu3062Val) c.9115C>G (p.Leu3039Val) c.7519C>G (p.Leu2507Val) n.9655C>G | COSMIC COSMIC |
6 | g.51748237G>T | CA364421201 | PKHD1 | c.9379C>A (p.Leu3127Ile) c.9250C>A (p.Leu3084Ile) c.9241C>A (p.Leu3081Ile) c.8737C>A (p.Leu2913Ile) c.8668C>A (p.Leu2890Ile) c.3454C>A (p.Leu1152Ile) c.9304C>A (p.Leu3102Ile) c.9184C>A (p.Leu3062Ile) c.9115C>A (p.Leu3039Ile) c.7519C>A (p.Leu2507Ile) n.9655C>A | |
6 | g.51748238A>C | CA364421202 | PKHD1 | c.9378T>G (p.Ser3126Arg) c.9249T>G (p.Ser3083Arg) c.9240T>G (p.Ser3080Arg) c.8736T>G (p.Ser2912Arg) c.8667T>G (p.Ser2889Arg) c.3453T>G (p.Ser1151Arg) c.9303T>G (p.Ser3101Arg) c.9183T>G (p.Ser3061Arg) c.9114T>G (p.Ser3038Arg) c.7518T>G (p.Ser2506Arg) n.9654T>G | |
6 | g.51748238A>G | CA450613803 | PKHD1 | c.9378T>C (p.Ser3126=) c.9249T>C (p.Ser3083=) c.9240T>C (p.Ser3080=) c.8736T>C (p.Ser2912=) c.8667T>C (p.Ser2889=) c.3453T>C (p.Ser1151=) c.9303T>C (p.Ser3101=) c.9183T>C (p.Ser3061=) c.9114T>C (p.Ser3038=) c.7518T>C (p.Ser2506=) n.9654T>C | |
6 | g.51748238A>T | CA364421203 | PKHD1 | c.9378T>A (p.Ser3126Arg) c.9249T>A (p.Ser3083Arg) c.9240T>A (p.Ser3080Arg) c.8736T>A (p.Ser2912Arg) c.8667T>A (p.Ser2889Arg) c.3453T>A (p.Ser1151Arg) c.9303T>A (p.Ser3101Arg) c.9183T>A (p.Ser3061Arg) c.9114T>A (p.Ser3038Arg) c.7518T>A (p.Ser2506Arg) n.9654T>A | |
6 | g.51748239C>A | CA364421204 | PKHD1 | c.9377G>T (p.Ser3126Ile) c.9248G>T (p.Ser3083Ile) c.9239G>T (p.Ser3080Ile) c.8735G>T (p.Ser2912Ile) c.8666G>T (p.Ser2889Ile) c.3452G>T (p.Ser1151Ile) c.9302G>T (p.Ser3101Ile) c.9182G>T (p.Ser3061Ile) c.9113G>T (p.Ser3038Ile) c.7517G>T (p.Ser2506Ile) n.9653G>T | |
6 | g.51748239C= | CA1628502831 | PKHD1 | c.9377G= (p.Ser3126=) c.9248G= (p.Ser3083=) c.9239G= (p.Ser3080=) c.8735G= (p.Ser2912=) c.8666G= (p.Ser2889=) c.3452G= (p.Ser1151=) c.9302G= (p.Ser3101=) c.9182G= (p.Ser3061=) c.9113G= (p.Ser3038=) c.7517G= (p.Ser2506=) n.9653G= | |
6 | g.51748239C>G | CA364421205 | PKHD1 | c.9377G>C (p.Ser3126Thr) c.9248G>C (p.Ser3083Thr) c.9239G>C (p.Ser3080Thr) c.8735G>C (p.Ser2912Thr) c.8666G>C (p.Ser2889Thr) c.3452G>C (p.Ser1151Thr) c.9302G>C (p.Ser3101Thr) c.9182G>C (p.Ser3061Thr) c.9113G>C (p.Ser3038Thr) c.7517G>C (p.Ser2506Thr) n.9653G>C | |
6 | g.51748239C>T | CA364421206 | PKHD1 | c.9377G>A (p.Ser3126Asn) c.9248G>A (p.Ser3083Asn) c.9239G>A (p.Ser3080Asn) c.8735G>A (p.Ser2912Asn) c.8666G>A (p.Ser2889Asn) c.3452G>A (p.Ser1151Asn) c.9302G>A (p.Ser3101Asn) c.9182G>A (p.Ser3061Asn) c.9113G>A (p.Ser3038Asn) c.7517G>A (p.Ser2506Asn) n.9653G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748240T>A | CA364421207 | PKHD1 | c.9376A>T (p.Ser3126Cys) c.9247A>T (p.Ser3083Cys) c.9238A>T (p.Ser3080Cys) c.8734A>T (p.Ser2912Cys) c.8665A>T (p.Ser2889Cys) c.3451A>T (p.Ser1151Cys) c.9301A>T (p.Ser3101Cys) c.9181A>T (p.Ser3061Cys) c.9112A>T (p.Ser3038Cys) c.7516A>T (p.Ser2506Cys) n.9652A>T | |
6 | g.51748240T>C | CA364421208 | PKHD1 | c.9376A>G (p.Ser3126Gly) c.9247A>G (p.Ser3083Gly) c.9238A>G (p.Ser3080Gly) c.8734A>G (p.Ser2912Gly) c.8665A>G (p.Ser2889Gly) c.3451A>G (p.Ser1151Gly) c.9301A>G (p.Ser3101Gly) c.9181A>G (p.Ser3061Gly) c.9112A>G (p.Ser3038Gly) c.7516A>G (p.Ser2506Gly) n.9652A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748240T>G | CA364421209 | PKHD1 | c.9376A>C (p.Ser3126Arg) c.9247A>C (p.Ser3083Arg) c.9238A>C (p.Ser3080Arg) c.8734A>C (p.Ser2912Arg) c.8665A>C (p.Ser2889Arg) c.3451A>C (p.Ser1151Arg) c.9301A>C (p.Ser3101Arg) c.9181A>C (p.Ser3061Arg) c.9112A>C (p.Ser3038Arg) c.7516A>C (p.Ser2506Arg) n.9652A>C | |
6 | g.51748240T= | CA1628502836 | PKHD1 | c.9376A= (p.Ser3126=) c.9247A= (p.Ser3083=) c.9238A= (p.Ser3080=) c.8734A= (p.Ser2912=) c.8665A= (p.Ser2889=) c.3451A= (p.Ser1151=) c.9301A= (p.Ser3101=) c.9181A= (p.Ser3061=) c.9112A= (p.Ser3038=) c.7516A= (p.Ser2506=) n.9652A= | |
6 | g.51748241T>A | CA450613804 | PKHD1 | c.9375A>T (p.Ser3125=) c.9246A>T (p.Ser3082=) c.9237A>T (p.Ser3079=) c.8733A>T (p.Ser2911=) c.8664A>T (p.Ser2888=) c.3450A>T (p.Ser1150=) c.9300A>T (p.Ser3100=) c.9180A>T (p.Ser3060=) c.9111A>T (p.Ser3037=) c.7515A>T (p.Ser2505=) n.9651A>T | |
6 | g.51748241T>C | CA450613806 | PKHD1 | c.9375A>G (p.Ser3125=) c.9246A>G (p.Ser3082=) c.9237A>G (p.Ser3079=) c.8733A>G (p.Ser2911=) c.8664A>G (p.Ser2888=) c.3450A>G (p.Ser1150=) c.9300A>G (p.Ser3100=) c.9180A>G (p.Ser3060=) c.9111A>G (p.Ser3037=) c.7515A>G (p.Ser2505=) n.9651A>G | ClinVar dbSNP |
6 | g.51748241T>G | CA450613805 | PKHD1 | c.9375A>C (p.Ser3125=) c.9246A>C (p.Ser3082=) c.9237A>C (p.Ser3079=) c.8733A>C (p.Ser2911=) c.8664A>C (p.Ser2888=) c.3450A>C (p.Ser1150=) c.9300A>C (p.Ser3100=) c.9180A>C (p.Ser3060=) c.9111A>C (p.Ser3037=) c.7515A>C (p.Ser2505=) n.9651A>C | |
6 | g.51748242G>A | CA364421212 | PKHD1 | c.9374C>T (p.Ser3125Leu) c.9245C>T (p.Ser3082Leu) c.9236C>T (p.Ser3079Leu) c.8732C>T (p.Ser2911Leu) c.8663C>T (p.Ser2888Leu) c.3449C>T (p.Ser1150Leu) c.9299C>T (p.Ser3100Leu) c.9179C>T (p.Ser3060Leu) c.9110C>T (p.Ser3037Leu) c.7514C>T (p.Ser2505Leu) n.9650C>T | |
6 | g.51748242G>C | CA364421214 | PKHD1 | c.9374C>G (p.Ser3125Ter) c.9245C>G (p.Ser3082Ter) c.9236C>G (p.Ser3079Ter) c.8732C>G (p.Ser2911Ter) c.8663C>G (p.Ser2888Ter) c.3449C>G (p.Ser1150Ter) c.9299C>G (p.Ser3100Ter) c.9179C>G (p.Ser3060Ter) c.9110C>G (p.Ser3037Ter) c.7514C>G (p.Ser2505Ter) n.9650C>G | COSMIC COSMIC |
6 | g.51748242G>T | CA364421210 | PKHD1 | c.9374C>A (p.Ser3125Ter) c.9245C>A (p.Ser3082Ter) c.9236C>A (p.Ser3079Ter) c.8732C>A (p.Ser2911Ter) c.8663C>A (p.Ser2888Ter) c.3449C>A (p.Ser1150Ter) c.9299C>A (p.Ser3100Ter) c.9179C>A (p.Ser3060Ter) c.9110C>A (p.Ser3037Ter) c.7514C>A (p.Ser2505Ter) n.9650C>A | |
6 | g.51748243A>C | CA364421218 | PKHD1 | c.9373T>G (p.Ser3125Ala) c.9244T>G (p.Ser3082Ala) c.9235T>G (p.Ser3079Ala) c.8731T>G (p.Ser2911Ala) c.8662T>G (p.Ser2888Ala) c.3448T>G (p.Ser1150Ala) c.9298T>G (p.Ser3100Ala) c.9178T>G (p.Ser3060Ala) c.9109T>G (p.Ser3037Ala) c.7513T>G (p.Ser2505Ala) n.9649T>G | |
6 | g.51748243A>G | CA364421216 | PKHD1 | c.9373T>C (p.Ser3125Pro) c.9244T>C (p.Ser3082Pro) c.9235T>C (p.Ser3079Pro) c.8731T>C (p.Ser2911Pro) c.8662T>C (p.Ser2888Pro) c.3448T>C (p.Ser1150Pro) c.9298T>C (p.Ser3100Pro) c.9178T>C (p.Ser3060Pro) c.9109T>C (p.Ser3037Pro) c.7513T>C (p.Ser2505Pro) n.9649T>C | |
6 | g.51748243A>T | CA364421220 | PKHD1 | c.9373T>A (p.Ser3125Thr) c.9244T>A (p.Ser3082Thr) c.9235T>A (p.Ser3079Thr) c.8731T>A (p.Ser2911Thr) c.8662T>A (p.Ser2888Thr) c.3448T>A (p.Ser1150Thr) c.9298T>A (p.Ser3100Thr) c.9178T>A (p.Ser3060Thr) c.9109T>A (p.Ser3037Thr) c.7513T>A (p.Ser2505Thr) n.9649T>A | gnomAD v4 |
6 | g.51748244A>C | CA364421222 | PKHD1 | c.9372T>G (p.His3124Gln) c.9243T>G (p.His3081Gln) c.9234T>G (p.His3078Gln) c.8730T>G (p.His2910Gln) c.8661T>G (p.His2887Gln) c.3447T>G (p.His1149Gln) c.9297T>G (p.His3099Gln) c.9177T>G (p.His3059Gln) c.9108T>G (p.His3036Gln) c.7512T>G (p.His2504Gln) n.9648T>G | |
6 | g.51748244A>G | CA450613809 | PKHD1 | c.9372T>C (p.His3124=) c.9243T>C (p.His3081=) c.9234T>C (p.His3078=) c.8730T>C (p.His2910=) c.8661T>C (p.His2887=) c.3447T>C (p.His1149=) c.9297T>C (p.His3099=) c.9177T>C (p.His3059=) c.9108T>C (p.His3036=) c.7512T>C (p.His2504=) n.9648T>C | |
6 | g.51748244A>T | CA364421224 | PKHD1 | c.9372T>A (p.His3124Gln) c.9243T>A (p.His3081Gln) c.9234T>A (p.His3078Gln) c.8730T>A (p.His2910Gln) c.8661T>A (p.His2887Gln) c.3447T>A (p.His1149Gln) c.9297T>A (p.His3099Gln) c.9177T>A (p.His3059Gln) c.9108T>A (p.His3036Gln) c.7512T>A (p.His2504Gln) n.9648T>A | gnomAD v4 |
6 | g.51748245T>A | CA364421226 | PKHD1 | c.9371A>T (p.His3124Leu) c.9242A>T (p.His3081Leu) c.9233A>T (p.His3078Leu) c.8729A>T (p.His2910Leu) c.8660A>T (p.His2887Leu) c.3446A>T (p.His1149Leu) c.9296A>T (p.His3099Leu) c.9176A>T (p.His3059Leu) c.9107A>T (p.His3036Leu) c.7511A>T (p.His2504Leu) n.9647A>T | |
6 | g.51748245T>C | CA3851397 | PKHD1 | c.9371A>G (p.His3124Arg) c.9242A>G (p.His3081Arg) c.9233A>G (p.His3078Arg) c.8729A>G (p.His2910Arg) c.8660A>G (p.His2887Arg) c.3446A>G (p.His1149Arg) c.9296A>G (p.His3099Arg) c.9176A>G (p.His3059Arg) c.9107A>G (p.His3036Arg) c.7511A>G (p.His2504Arg) n.9647A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748245T>G | CA364421229 | PKHD1 | c.9371A>C (p.His3124Pro) c.9242A>C (p.His3081Pro) c.9233A>C (p.His3078Pro) c.8729A>C (p.His2910Pro) c.8660A>C (p.His2887Pro) c.3446A>C (p.His1149Pro) c.9296A>C (p.His3099Pro) c.9176A>C (p.His3059Pro) c.9107A>C (p.His3036Pro) c.7511A>C (p.His2504Pro) n.9647A>C | ClinVar dbSNP |
6 | g.51748245T= | CA1628502841 | PKHD1 | c.9371A= (p.His3124=) c.9242A= (p.His3081=) c.9233A= (p.His3078=) c.8729A= (p.His2910=) c.8660A= (p.His2887=) c.3446A= (p.His1149=) c.9296A= (p.His3099=) c.9176A= (p.His3059=) c.9107A= (p.His3036=) c.7511A= (p.His2504=) n.9647A= | |
6 | g.51748246G>A | CA364421233 | PKHD1 | c.9370C>T (p.His3124Tyr) c.9241C>T (p.His3081Tyr) c.9232C>T (p.His3078Tyr) c.8728C>T (p.His2910Tyr) c.8659C>T (p.His2887Tyr) c.3445C>T (p.His1149Tyr) c.9295C>T (p.His3099Tyr) c.9175C>T (p.His3059Tyr) c.9106C>T (p.His3036Tyr) c.7510C>T (p.His2504Tyr) n.9646C>T | ClinVar dbSNP |
6 | g.51748246G>C | CA364421234 | PKHD1 | c.9370C>G (p.His3124Asp) c.9241C>G (p.His3081Asp) c.9232C>G (p.His3078Asp) c.8728C>G (p.His2910Asp) c.8659C>G (p.His2887Asp) c.3445C>G (p.His1149Asp) c.9295C>G (p.His3099Asp) c.9175C>G (p.His3059Asp) c.9106C>G (p.His3036Asp) c.7510C>G (p.His2504Asp) n.9646C>G | |
6 | g.51748246G= | CA1628502849 | PKHD1 | c.9370C= (p.His3124=) c.9241C= (p.His3081=) c.9232C= (p.His3078=) c.8728C= (p.His2910=) c.8659C= (p.His2887=) c.3445C= (p.His1149=) c.9295C= (p.His3099=) c.9175C= (p.His3059=) c.9106C= (p.His3036=) c.7510C= (p.His2504=) n.9646C= | |
6 | g.51748246G>T | CA364421236 | PKHD1 | c.9370C>A (p.His3124Asn) c.9241C>A (p.His3081Asn) c.9232C>A (p.His3078Asn) c.8728C>A (p.His2910Asn) c.8659C>A (p.His2887Asn) c.3445C>A (p.His1149Asn) c.9295C>A (p.His3099Asn) c.9175C>A (p.His3059Asn) c.9106C>A (p.His3036Asn) c.7510C>A (p.His2504Asn) n.9646C>A | |
6 | g.51748247C>A | CA3851398 | PKHD1 | c.9369G>T (p.Ala3123=) c.9240G>T (p.Ala3080=) c.9231G>T (p.Ala3077=) c.8727G>T (p.Ala2909=) c.8658G>T (p.Ala2886=) c.3444G>T (p.Ala1148=) c.9294G>T (p.Ala3098=) c.9174G>T (p.Ala3058=) c.9105G>T (p.Ala3035=) c.7509G>T (p.Ala2503=) n.9645G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748247C= | CA1628502855 | PKHD1 | c.9369G= (p.Ala3123=) c.9240G= (p.Ala3080=) c.9231G= (p.Ala3077=) c.8727G= (p.Ala2909=) c.8658G= (p.Ala2886=) c.3444G= (p.Ala1148=) c.9294G= (p.Ala3098=) c.9174G= (p.Ala3058=) c.9105G= (p.Ala3035=) c.7509G= (p.Ala2503=) n.9645G= | |
6 | g.51748247C>G | CA450613813 | PKHD1 | c.9369G>C (p.Ala3123=) c.9240G>C (p.Ala3080=) c.9231G>C (p.Ala3077=) c.8727G>C (p.Ala2909=) c.8658G>C (p.Ala2886=) c.3444G>C (p.Ala1148=) c.9294G>C (p.Ala3098=) c.9174G>C (p.Ala3058=) c.9105G>C (p.Ala3035=) c.7509G>C (p.Ala2503=) n.9645G>C | gnomAD v4 |
6 | g.51748247C>T | CA3851399 | PKHD1 | c.9369G>A (p.Ala3123=) c.9240G>A (p.Ala3080=) c.9231G>A (p.Ala3077=) c.8727G>A (p.Ala2909=) c.8658G>A (p.Ala2886=) c.3444G>A (p.Ala1148=) c.9294G>A (p.Ala3098=) c.9174G>A (p.Ala3058=) c.9105G>A (p.Ala3035=) c.7509G>A (p.Ala2503=) n.9645G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.51748248G>A | CA3851400 | PKHD1 | c.9368C>T (p.Ala3123Val) c.9239C>T (p.Ala3080Val) c.9230C>T (p.Ala3077Val) c.8726C>T (p.Ala2909Val) c.8657C>T (p.Ala2886Val) c.3443C>T (p.Ala1148Val) c.9293C>T (p.Ala3098Val) c.9173C>T (p.Ala3058Val) c.9104C>T (p.Ala3035Val) c.7508C>T (p.Ala2503Val) n.9644C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.51748248G>C | CA364421244 | PKHD1 | c.9368C>G (p.Ala3123Gly) c.9239C>G (p.Ala3080Gly) c.9230C>G (p.Ala3077Gly) c.8726C>G (p.Ala2909Gly) c.8657C>G (p.Ala2886Gly) c.3443C>G (p.Ala1148Gly) c.9293C>G (p.Ala3098Gly) c.9173C>G (p.Ala3058Gly) c.9104C>G (p.Ala3035Gly) c.7508C>G (p.Ala2503Gly) n.9644C>G | |
6 | g.51748248G= | CA1628502872 | PKHD1 | c.9368C= (p.Ala3123=) c.9239C= (p.Ala3080=) c.9230C= (p.Ala3077=) c.8726C= (p.Ala2909=) c.8657C= (p.Ala2886=) c.3443C= (p.Ala1148=) c.9293C= (p.Ala3098=) c.9173C= (p.Ala3058=) c.9104C= (p.Ala3035=) c.7508C= (p.Ala2503=) n.9644C= | |
6 | g.51748248G>T | CA364421242 | PKHD1 | c.9368C>A (p.Ala3123Glu) c.9239C>A (p.Ala3080Glu) c.9230C>A (p.Ala3077Glu) c.8726C>A (p.Ala2909Glu) c.8657C>A (p.Ala2886Glu) c.3443C>A (p.Ala1148Glu) c.9293C>A (p.Ala3098Glu) c.9173C>A (p.Ala3058Glu) c.9104C>A (p.Ala3035Glu) c.7508C>A (p.Ala2503Glu) n.9644C>A | |
6 | g.51748249C>A | CA364421248 | PKHD1 | c.9367G>T (p.Ala3123Ser) c.9238G>T (p.Ala3080Ser) c.9229G>T (p.Ala3077Ser) c.8725G>T (p.Ala2909Ser) c.8656G>T (p.Ala2886Ser) c.3442G>T (p.Ala1148Ser) c.9292G>T (p.Ala3098Ser) c.9172G>T (p.Ala3058Ser) c.9103G>T (p.Ala3035Ser) c.7507G>T (p.Ala2503Ser) n.9643G>T | |
6 | g.51748249C>G | CA364421249 | PKHD1 | c.9367G>C (p.Ala3123Pro) c.9238G>C (p.Ala3080Pro) c.9229G>C (p.Ala3077Pro) c.8725G>C (p.Ala2909Pro) c.8656G>C (p.Ala2886Pro) c.3442G>C (p.Ala1148Pro) c.9292G>C (p.Ala3098Pro) c.9172G>C (p.Ala3058Pro) c.9103G>C (p.Ala3035Pro) c.7507G>C (p.Ala2503Pro) n.9643G>C | |
6 | g.51748249C>T | CA364421251 | PKHD1 | c.9367G>A (p.Ala3123Thr) c.9238G>A (p.Ala3080Thr) c.9229G>A (p.Ala3077Thr) c.8725G>A (p.Ala2909Thr) c.8656G>A (p.Ala2886Thr) c.3442G>A (p.Ala1148Thr) c.9292G>A (p.Ala3098Thr) c.9172G>A (p.Ala3058Thr) c.9103G>A (p.Ala3035Thr) c.7507G>A (p.Ala2503Thr) n.9643G>A | |
6 | g.51748250C>A | CA450613819 | PKHD1 | c.9366G>T (p.Val3122=) c.9237G>T (p.Val3079=) c.9228G>T (p.Val3076=) c.8724G>T (p.Val2908=) c.8655G>T (p.Val2885=) c.3441G>T (p.Val1147=) c.9291G>T (p.Val3097=) c.9171G>T (p.Val3057=) c.9102G>T (p.Val3034=) c.7506G>T (p.Val2502=) n.9642G>T | |
6 | g.51748250C>G | CA450613818 | PKHD1 | c.9366G>C (p.Val3122=) c.9237G>C (p.Val3079=) c.9228G>C (p.Val3076=) c.8724G>C (p.Val2908=) c.8655G>C (p.Val2885=) c.3441G>C (p.Val1147=) c.9291G>C (p.Val3097=) c.9171G>C (p.Val3057=) c.9102G>C (p.Val3034=) c.7506G>C (p.Val2502=) n.9642G>C | |
6 | g.51748250C>T | CA450613817 | PKHD1 | c.9366G>A (p.Val3122=) c.9237G>A (p.Val3079=) c.9228G>A (p.Val3076=) c.8724G>A (p.Val2908=) c.8655G>A (p.Val2885=) c.3441G>A (p.Val1147=) c.9291G>A (p.Val3097=) c.9171G>A (p.Val3057=) c.9102G>A (p.Val3034=) c.7506G>A (p.Val2502=) n.9642G>A | |
6 | g.51748251A= | CA1628502877 | PKHD1 | c.9365T= (p.Val3122=) c.9236T= (p.Val3079=) c.9227T= (p.Val3076=) c.8723T= (p.Val2908=) c.8654T= (p.Val2885=) c.3440T= (p.Val1147=) c.9290T= (p.Val3097=) c.9170T= (p.Val3057=) c.9101T= (p.Val3034=) c.7505T= (p.Val2502=) n.9641T= | |
6 | g.51748251A>C | CA364421255 | PKHD1 | c.9365T>G (p.Val3122Gly) c.9236T>G (p.Val3079Gly) c.9227T>G (p.Val3076Gly) c.8723T>G (p.Val2908Gly) c.8654T>G (p.Val2885Gly) c.3440T>G (p.Val1147Gly) c.9290T>G (p.Val3097Gly) c.9170T>G (p.Val3057Gly) c.9101T>G (p.Val3034Gly) c.7505T>G (p.Val2502Gly) n.9641T>G | |
6 | g.51748251A>G | CA3851401 | PKHD1 | c.9365T>C (p.Val3122Ala) c.9236T>C (p.Val3079Ala) c.9227T>C (p.Val3076Ala) c.8723T>C (p.Val2908Ala) c.8654T>C (p.Val2885Ala) c.3440T>C (p.Val1147Ala) c.9290T>C (p.Val3097Ala) c.9170T>C (p.Val3057Ala) c.9101T>C (p.Val3034Ala) c.7505T>C (p.Val2502Ala) n.9641T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748251A>T | CA364421258 | PKHD1 | c.9365T>A (p.Val3122Glu) c.9236T>A (p.Val3079Glu) c.9227T>A (p.Val3076Glu) c.8723T>A (p.Val2908Glu) c.8654T>A (p.Val2885Glu) c.3440T>A (p.Val1147Glu) c.9290T>A (p.Val3097Glu) c.9170T>A (p.Val3057Glu) c.9101T>A (p.Val3034Glu) c.7505T>A (p.Val2502Glu) n.9641T>A | |
6 | g.51748252C>A | CA364421261 | PKHD1 | c.9364G>T (p.Val3122Leu) c.9235G>T (p.Val3079Leu) c.9226G>T (p.Val3076Leu) c.8722G>T (p.Val2908Leu) c.8653G>T (p.Val2885Leu) c.3439G>T (p.Val1147Leu) c.9289G>T (p.Val3097Leu) c.9169G>T (p.Val3057Leu) c.9100G>T (p.Val3034Leu) c.7504G>T (p.Val2502Leu) n.9640G>T | gnomAD v4 |
6 | g.51748252C= | CA1628502882 | PKHD1 | c.9364G= (p.Val3122=) c.9235G= (p.Val3079=) c.9226G= (p.Val3076=) c.8722G= (p.Val2908=) c.8653G= (p.Val2885=) c.3439G= (p.Val1147=) c.9289G= (p.Val3097=) c.9169G= (p.Val3057=) c.9100G= (p.Val3034=) c.7504G= (p.Val2502=) n.9640G= | |
6 | g.51748252C>G | CA364421263 | PKHD1 | c.9364G>C (p.Val3122Leu) c.9235G>C (p.Val3079Leu) c.9226G>C (p.Val3076Leu) c.8722G>C (p.Val2908Leu) c.8653G>C (p.Val2885Leu) c.3439G>C (p.Val1147Leu) c.9289G>C (p.Val3097Leu) c.9169G>C (p.Val3057Leu) c.9100G>C (p.Val3034Leu) c.7504G>C (p.Val2502Leu) n.9640G>C | |
6 | g.51748252C>T | CA364421265 | PKHD1 | c.9364G>A (p.Val3122Met) c.9235G>A (p.Val3079Met) c.9226G>A (p.Val3076Met) c.8722G>A (p.Val2908Met) c.8653G>A (p.Val2885Met) c.3439G>A (p.Val1147Met) c.9289G>A (p.Val3097Met) c.9169G>A (p.Val3057Met) c.9100G>A (p.Val3034Met) c.7504G>A (p.Val2502Met) n.9640G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748253A= | CA1628502893 | PKHD1 | c.9363T= (p.Asn3121=) c.9234T= (p.Asn3078=) c.9225T= (p.Asn3075=) c.8721T= (p.Asn2907=) c.8652T= (p.Asn2884=) c.3438T= (p.Asn1146=) c.9288T= (p.Asn3096=) c.9168T= (p.Asn3056=) c.9099T= (p.Asn3033=) c.7503T= (p.Asn2501=) n.9639T= | |
6 | g.51748253A>C | CA364421267 | PKHD1 | c.9363T>G (p.Asn3121Lys) c.9234T>G (p.Asn3078Lys) c.9225T>G (p.Asn3075Lys) c.8721T>G (p.Asn2907Lys) c.8652T>G (p.Asn2884Lys) c.3438T>G (p.Asn1146Lys) c.9288T>G (p.Asn3096Lys) c.9168T>G (p.Asn3056Lys) c.9099T>G (p.Asn3033Lys) c.7503T>G (p.Asn2501Lys) n.9639T>G | |
6 | g.51748253A>G | CA246494 | PKHD1 | c.9363T>C (p.Asn3121=) c.9234T>C (p.Asn3078=) c.9225T>C (p.Asn3075=) c.8721T>C (p.Asn2907=) c.8652T>C (p.Asn2884=) c.3438T>C (p.Asn1146=) c.9288T>C (p.Asn3096=) c.9168T>C (p.Asn3056=) c.9099T>C (p.Asn3033=) c.7503T>C (p.Asn2501=) n.9639T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748253A>T | CA364421273 | PKHD1 | c.9363T>A (p.Asn3121Lys) c.9234T>A (p.Asn3078Lys) c.9225T>A (p.Asn3075Lys) c.8721T>A (p.Asn2907Lys) c.8652T>A (p.Asn2884Lys) c.3438T>A (p.Asn1146Lys) c.9288T>A (p.Asn3096Lys) c.9168T>A (p.Asn3056Lys) c.9099T>A (p.Asn3033Lys) c.7503T>A (p.Asn2501Lys) n.9639T>A | |
6 | g.51748254T>A | CA364421280 | PKHD1 | c.9362A>T (p.Asn3121Ile) c.9233A>T (p.Asn3078Ile) c.9224A>T (p.Asn3075Ile) c.8720A>T (p.Asn2907Ile) c.8651A>T (p.Asn2884Ile) c.3437A>T (p.Asn1146Ile) c.9287A>T (p.Asn3096Ile) c.9167A>T (p.Asn3056Ile) c.9098A>T (p.Asn3033Ile) c.7502A>T (p.Asn2501Ile) n.9638A>T | gnomAD v4 |
6 | g.51748254T>C | CA364421281 | PKHD1 | c.9362A>G (p.Asn3121Ser) c.9233A>G (p.Asn3078Ser) c.9224A>G (p.Asn3075Ser) c.8720A>G (p.Asn2907Ser) c.8651A>G (p.Asn2884Ser) c.3437A>G (p.Asn1146Ser) c.9287A>G (p.Asn3096Ser) c.9167A>G (p.Asn3056Ser) c.9098A>G (p.Asn3033Ser) c.7502A>G (p.Asn2501Ser) n.9638A>G | dbSNP gnomAD v4 |
6 | g.51748254T>G | CA364421277 | PKHD1 | c.9362A>C (p.Asn3121Thr) c.9233A>C (p.Asn3078Thr) c.9224A>C (p.Asn3075Thr) c.8720A>C (p.Asn2907Thr) c.8651A>C (p.Asn2884Thr) c.3437A>C (p.Asn1146Thr) c.9287A>C (p.Asn3096Thr) c.9167A>C (p.Asn3056Thr) c.9098A>C (p.Asn3033Thr) c.7502A>C (p.Asn2501Thr) n.9638A>C | |
6 | g.51748254T= | CA1628502897 | PKHD1 | c.9362A= (p.Asn3121=) c.9233A= (p.Asn3078=) c.9224A= (p.Asn3075=) c.8720A= (p.Asn2907=) c.8651A= (p.Asn2884=) c.3437A= (p.Asn1146=) c.9287A= (p.Asn3096=) c.9167A= (p.Asn3056=) c.9098A= (p.Asn3033=) c.7502A= (p.Asn2501=) n.9638A= | |
6 | g.51748255T>A | CA364421285 | PKHD1 | c.9361A>T (p.Asn3121Tyr) c.9232A>T (p.Asn3078Tyr) c.9223A>T (p.Asn3075Tyr) c.8719A>T (p.Asn2907Tyr) c.8650A>T (p.Asn2884Tyr) c.3436A>T (p.Asn1146Tyr) c.9286A>T (p.Asn3096Tyr) c.9166A>T (p.Asn3056Tyr) c.9097A>T (p.Asn3033Tyr) c.7501A>T (p.Asn2501Tyr) n.9637A>T | |
6 | g.51748255T>C | CA3851402 | PKHD1 | c.9361A>G (p.Asn3121Asp) c.9232A>G (p.Asn3078Asp) c.9223A>G (p.Asn3075Asp) c.8719A>G (p.Asn2907Asp) c.8650A>G (p.Asn2884Asp) c.3436A>G (p.Asn1146Asp) c.9286A>G (p.Asn3096Asp) c.9166A>G (p.Asn3056Asp) c.9097A>G (p.Asn3033Asp) c.7501A>G (p.Asn2501Asp) n.9637A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748255T>G | CA364421289 | PKHD1 | c.9361A>C (p.Asn3121His) c.9232A>C (p.Asn3078His) c.9223A>C (p.Asn3075His) c.8719A>C (p.Asn2907His) c.8650A>C (p.Asn2884His) c.3436A>C (p.Asn1146His) c.9286A>C (p.Asn3096His) c.9166A>C (p.Asn3056His) c.9097A>C (p.Asn3033His) c.7501A>C (p.Asn2501His) n.9637A>C | |
6 | g.51748255T= | CA1628502902 | PKHD1 | c.9361A= (p.Asn3121=) c.9232A= (p.Asn3078=) c.9223A= (p.Asn3075=) c.8719A= (p.Asn2907=) c.8650A= (p.Asn2884=) c.3436A= (p.Asn1146=) c.9286A= (p.Asn3096=) c.9166A= (p.Asn3056=) c.9097A= (p.Asn3033=) c.7501A= (p.Asn2501=) n.9637A= | |
6 | g.51748256G>A | CA450613823 | PKHD1 | c.9360C>T (p.Asp3120=) c.9231C>T (p.Asp3077=) c.9222C>T (p.Asp3074=) c.8718C>T (p.Asp2906=) c.8649C>T (p.Asp2883=) c.3435C>T (p.Asp1145=) c.9285C>T (p.Asp3095=) c.9165C>T (p.Asp3055=) c.9096C>T (p.Asp3032=) c.7500C>T (p.Asp2500=) n.9636C>T | |
6 | g.51748256G>C | CA364421292 | PKHD1 | c.9360C>G (p.Asp3120Glu) c.9231C>G (p.Asp3077Glu) c.9222C>G (p.Asp3074Glu) c.8718C>G (p.Asp2906Glu) c.8649C>G (p.Asp2883Glu) c.3435C>G (p.Asp1145Glu) c.9285C>G (p.Asp3095Glu) c.9165C>G (p.Asp3055Glu) c.9096C>G (p.Asp3032Glu) c.7500C>G (p.Asp2500Glu) n.9636C>G | |
6 | g.51748256G>T | CA364421294 | PKHD1 | c.9360C>A (p.Asp3120Glu) c.9231C>A (p.Asp3077Glu) c.9222C>A (p.Asp3074Glu) c.8718C>A (p.Asp2906Glu) c.8649C>A (p.Asp2883Glu) c.3435C>A (p.Asp1145Glu) c.9285C>A (p.Asp3095Glu) c.9165C>A (p.Asp3055Glu) c.9096C>A (p.Asp3032Glu) c.7500C>A (p.Asp2500Glu) n.9636C>A | gnomAD v4 |
6 | g.51748257T>A | CA364421301 | PKHD1 | c.9359A>T (p.Asp3120Val) c.9230A>T (p.Asp3077Val) c.9221A>T (p.Asp3074Val) c.8717A>T (p.Asp2906Val) c.8648A>T (p.Asp2883Val) c.3434A>T (p.Asp1145Val) c.9284A>T (p.Asp3095Val) c.9164A>T (p.Asp3055Val) c.9095A>T (p.Asp3032Val) c.7499A>T (p.Asp2500Val) n.9635A>T | |
6 | g.51748257T>C | CA364421299 | PKHD1 | c.9359A>G (p.Asp3120Gly) c.9230A>G (p.Asp3077Gly) c.9221A>G (p.Asp3074Gly) c.8717A>G (p.Asp2906Gly) c.8648A>G (p.Asp2883Gly) c.3434A>G (p.Asp1145Gly) c.9284A>G (p.Asp3095Gly) c.9164A>G (p.Asp3055Gly) c.9095A>G (p.Asp3032Gly) c.7499A>G (p.Asp2500Gly) n.9635A>G | |
6 | g.51748257T>G | CA364421297 | PKHD1 | c.9359A>C (p.Asp3120Ala) c.9230A>C (p.Asp3077Ala) c.9221A>C (p.Asp3074Ala) c.8717A>C (p.Asp2906Ala) c.8648A>C (p.Asp2883Ala) c.3434A>C (p.Asp1145Ala) c.9284A>C (p.Asp3095Ala) c.9164A>C (p.Asp3055Ala) c.9095A>C (p.Asp3032Ala) c.7499A>C (p.Asp2500Ala) n.9635A>C | |
6 | g.51748258C>A | CA364421303 | PKHD1 | c.9358G>T (p.Asp3120Tyr) c.9229G>T (p.Asp3077Tyr) c.9220G>T (p.Asp3074Tyr) c.8716G>T (p.Asp2906Tyr) c.8647G>T (p.Asp2883Tyr) c.3433G>T (p.Asp1145Tyr) c.9283G>T (p.Asp3095Tyr) c.9163G>T (p.Asp3055Tyr) c.9094G>T (p.Asp3032Tyr) c.7498G>T (p.Asp2500Tyr) n.9634G>T | |
6 | g.51748258C= | CA1628502907 | PKHD1 | c.9358G= (p.Asp3120=) c.9229G= (p.Asp3077=) c.9220G= (p.Asp3074=) c.8716G= (p.Asp2906=) c.8647G= (p.Asp2883=) c.3433G= (p.Asp1145=) c.9283G= (p.Asp3095=) c.9163G= (p.Asp3055=) c.9094G= (p.Asp3032=) c.7498G= (p.Asp2500=) n.9634G= | |
6 | g.51748258C>G | CA364421305 | PKHD1 | c.9358G>C (p.Asp3120His) c.9229G>C (p.Asp3077His) c.9220G>C (p.Asp3074His) c.8716G>C (p.Asp2906His) c.8647G>C (p.Asp2883His) c.3433G>C (p.Asp1145His) c.9283G>C (p.Asp3095His) c.9163G>C (p.Asp3055His) c.9094G>C (p.Asp3032His) c.7498G>C (p.Asp2500His) n.9634G>C | |
6 | g.51748258C>T | CA364421307 | PKHD1 | c.9358G>A (p.Asp3120Asn) c.9229G>A (p.Asp3077Asn) c.9220G>A (p.Asp3074Asn) c.8716G>A (p.Asp2906Asn) c.8647G>A (p.Asp2883Asn) c.3433G>A (p.Asp1145Asn) c.9283G>A (p.Asp3095Asn) c.9163G>A (p.Asp3055Asn) c.9094G>A (p.Asp3032Asn) c.7498G>A (p.Asp2500Asn) n.9634G>A | dbSNP |
6 | g.51748259A>C | CA450613825 | PKHD1 | c.9357T>G (p.Ser3119=) c.9228T>G (p.Ser3076=) c.9219T>G (p.Ser3073=) c.8715T>G (p.Ser2905=) c.8646T>G (p.Ser2882=) c.3432T>G (p.Ser1144=) c.9282T>G (p.Ser3094=) c.9162T>G (p.Ser3054=) c.9093T>G (p.Ser3031=) c.7497T>G (p.Ser2499=) n.9633T>G | |
6 | g.51748259A>G | CA450613826 | PKHD1 | c.9357T>C (p.Ser3119=) c.9228T>C (p.Ser3076=) c.9219T>C (p.Ser3073=) c.8715T>C (p.Ser2905=) c.8646T>C (p.Ser2882=) c.3432T>C (p.Ser1144=) c.9282T>C (p.Ser3094=) c.9162T>C (p.Ser3054=) c.9093T>C (p.Ser3031=) c.7497T>C (p.Ser2499=) n.9633T>C | |
6 | g.51748259A>T | CA450613827 | PKHD1 | c.9357T>A (p.Ser3119=) c.9228T>A (p.Ser3076=) c.9219T>A (p.Ser3073=) c.8715T>A (p.Ser2905=) c.8646T>A (p.Ser2882=) c.3432T>A (p.Ser1144=) c.9282T>A (p.Ser3094=) c.9162T>A (p.Ser3054=) c.9093T>A (p.Ser3031=) c.7497T>A (p.Ser2499=) n.9633T>A | |
6 | g.51748260G>A | CA3851403 | PKHD1 | c.9356C>T (p.Ser3119Phe) c.9227C>T (p.Ser3076Phe) c.9218C>T (p.Ser3073Phe) c.8714C>T (p.Ser2905Phe) c.8645C>T (p.Ser2882Phe) c.3431C>T (p.Ser1144Phe) c.9281C>T (p.Ser3094Phe) c.9161C>T (p.Ser3054Phe) c.9092C>T (p.Ser3031Phe) c.7496C>T (p.Ser2499Phe) n.9632C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748260G>C | CA364421312 | PKHD1 | c.9356C>G (p.Ser3119Cys) c.9227C>G (p.Ser3076Cys) c.9218C>G (p.Ser3073Cys) c.8714C>G (p.Ser2905Cys) c.8645C>G (p.Ser2882Cys) c.3431C>G (p.Ser1144Cys) c.9281C>G (p.Ser3094Cys) c.9161C>G (p.Ser3054Cys) c.9092C>G (p.Ser3031Cys) c.7496C>G (p.Ser2499Cys) n.9632C>G | dbSNP |
6 | g.51748260G= | CA1628502910 | PKHD1 | c.9356C= (p.Ser3119=) c.9227C= (p.Ser3076=) c.9218C= (p.Ser3073=) c.8714C= (p.Ser2905=) c.8645C= (p.Ser2882=) c.3431C= (p.Ser1144=) c.9281C= (p.Ser3094=) c.9161C= (p.Ser3054=) c.9092C= (p.Ser3031=) c.7496C= (p.Ser2499=) n.9632C= | |
6 | g.51748260G>T | CA364421314 | PKHD1 | c.9356C>A (p.Ser3119Tyr) c.9227C>A (p.Ser3076Tyr) c.9218C>A (p.Ser3073Tyr) c.8714C>A (p.Ser2905Tyr) c.8645C>A (p.Ser2882Tyr) c.3431C>A (p.Ser1144Tyr) c.9281C>A (p.Ser3094Tyr) c.9161C>A (p.Ser3054Tyr) c.9092C>A (p.Ser3031Tyr) c.7496C>A (p.Ser2499Tyr) n.9632C>A | |
6 | g.51748261A= | CA1628502913 | PKHD1 | c.9355T= (p.Ser3119=) c.9226T= (p.Ser3076=) c.9217T= (p.Ser3073=) c.8713T= (p.Ser2905=) c.8644T= (p.Ser2882=) c.3430T= (p.Ser1144=) c.9280T= (p.Ser3094=) c.9160T= (p.Ser3054=) c.9091T= (p.Ser3031=) c.7495T= (p.Ser2499=) n.9631T= | |
6 | g.51748261A>C | CA364421317 | PKHD1 | c.9355T>G (p.Ser3119Ala) c.9226T>G (p.Ser3076Ala) c.9217T>G (p.Ser3073Ala) c.8713T>G (p.Ser2905Ala) c.8644T>G (p.Ser2882Ala) c.3430T>G (p.Ser1144Ala) c.9280T>G (p.Ser3094Ala) c.9160T>G (p.Ser3054Ala) c.9091T>G (p.Ser3031Ala) c.7495T>G (p.Ser2499Ala) n.9631T>G | dbSNP |
6 | g.51748261A>G | CA364421321 | PKHD1 | c.9355T>C (p.Ser3119Pro) c.9226T>C (p.Ser3076Pro) c.9217T>C (p.Ser3073Pro) c.8713T>C (p.Ser2905Pro) c.8644T>C (p.Ser2882Pro) c.3430T>C (p.Ser1144Pro) c.9280T>C (p.Ser3094Pro) c.9160T>C (p.Ser3054Pro) c.9091T>C (p.Ser3031Pro) c.7495T>C (p.Ser2499Pro) n.9631T>C | |
6 | g.51748261A>T | CA364421319 | PKHD1 | c.9355T>A (p.Ser3119Thr) c.9226T>A (p.Ser3076Thr) c.9217T>A (p.Ser3073Thr) c.8713T>A (p.Ser2905Thr) c.8644T>A (p.Ser2882Thr) c.3430T>A (p.Ser1144Thr) c.9280T>A (p.Ser3094Thr) c.9160T>A (p.Ser3054Thr) c.9091T>A (p.Ser3031Thr) c.7495T>A (p.Ser2499Thr) n.9631T>A | |
6 | g.51748262C>A | CA364421323 | PKHD1 | c.9354G>T (p.Trp3118Cys) c.9225G>T (p.Trp3075Cys) c.9216G>T (p.Trp3072Cys) c.8712G>T (p.Trp2904Cys) c.8643G>T (p.Trp2881Cys) c.3429G>T (p.Trp1143Cys) c.9279G>T (p.Trp3093Cys) c.9159G>T (p.Trp3053Cys) c.9090G>T (p.Trp3030Cys) c.7494G>T (p.Trp2498Cys) n.9630G>T | |
6 | g.51748262C>G | CA364421325 | PKHD1 | c.9354G>C (p.Trp3118Cys) c.9225G>C (p.Trp3075Cys) c.9216G>C (p.Trp3072Cys) c.8712G>C (p.Trp2904Cys) c.8643G>C (p.Trp2881Cys) c.3429G>C (p.Trp1143Cys) c.9279G>C (p.Trp3093Cys) c.9159G>C (p.Trp3053Cys) c.9090G>C (p.Trp3030Cys) c.7494G>C (p.Trp2498Cys) n.9630G>C | |
6 | g.51748262C>T | CA364421327 | PKHD1 | c.9354G>A (p.Trp3118Ter) c.9225G>A (p.Trp3075Ter) c.9216G>A (p.Trp3072Ter) c.8712G>A (p.Trp2904Ter) c.8643G>A (p.Trp2881Ter) c.3429G>A (p.Trp1143Ter) c.9279G>A (p.Trp3093Ter) c.9159G>A (p.Trp3053Ter) c.9090G>A (p.Trp3030Ter) c.7494G>A (p.Trp2498Ter) n.9630G>A | gnomAD v4 |
6 | g.51748263C>A | CA364421328 | PKHD1 | c.9353G>T (p.Trp3118Leu) c.9224G>T (p.Trp3075Leu) c.9215G>T (p.Trp3072Leu) c.8711G>T (p.Trp2904Leu) c.8642G>T (p.Trp2881Leu) c.3428G>T (p.Trp1143Leu) c.9278G>T (p.Trp3093Leu) c.9158G>T (p.Trp3053Leu) c.9089G>T (p.Trp3030Leu) c.7493G>T (p.Trp2498Leu) n.9629G>T | dbSNP |
6 | g.51748263C= | CA1628502915 | PKHD1 | c.9353G= (p.Trp3118=) c.9224G= (p.Trp3075=) c.9215G= (p.Trp3072=) c.8711G= (p.Trp2904=) c.8642G= (p.Trp2881=) c.3428G= (p.Trp1143=) c.9278G= (p.Trp3093=) c.9158G= (p.Trp3053=) c.9089G= (p.Trp3030=) c.7493G= (p.Trp2498=) n.9629G= | |
6 | g.51748263C>G | CA364421331 | PKHD1 | c.9353G>C (p.Trp3118Ser) c.9224G>C (p.Trp3075Ser) c.9215G>C (p.Trp3072Ser) c.8711G>C (p.Trp2904Ser) c.8642G>C (p.Trp2881Ser) c.3428G>C (p.Trp1143Ser) c.9278G>C (p.Trp3093Ser) c.9158G>C (p.Trp3053Ser) c.9089G>C (p.Trp3030Ser) c.7493G>C (p.Trp2498Ser) n.9629G>C | |
6 | g.51748263C>T | CA364421333 | PKHD1 | c.9353G>A (p.Trp3118Ter) c.9224G>A (p.Trp3075Ter) c.9215G>A (p.Trp3072Ter) c.8711G>A (p.Trp2904Ter) c.8642G>A (p.Trp2881Ter) c.3428G>A (p.Trp1143Ter) c.9278G>A (p.Trp3093Ter) c.9158G>A (p.Trp3053Ter) c.9089G>A (p.Trp3030Ter) c.7493G>A (p.Trp2498Ter) n.9629G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748264A>C | CA364421336 | PKHD1 | c.9352T>G (p.Trp3118Gly) c.9223T>G (p.Trp3075Gly) c.9214T>G (p.Trp3072Gly) c.8710T>G (p.Trp2904Gly) c.8641T>G (p.Trp2881Gly) c.3427T>G (p.Trp1143Gly) c.9277T>G (p.Trp3093Gly) c.9157T>G (p.Trp3053Gly) c.9088T>G (p.Trp3030Gly) c.7492T>G (p.Trp2498Gly) n.9628T>G | |
6 | g.51748264A>G | CA364421337 | PKHD1 | c.9352T>C (p.Trp3118Arg) c.9223T>C (p.Trp3075Arg) c.9214T>C (p.Trp3072Arg) c.8710T>C (p.Trp2904Arg) c.8641T>C (p.Trp2881Arg) c.3427T>C (p.Trp1143Arg) c.9277T>C (p.Trp3093Arg) c.9157T>C (p.Trp3053Arg) c.9088T>C (p.Trp3030Arg) c.7492T>C (p.Trp2498Arg) n.9628T>C | |
6 | g.51748264A>T | CA364421339 | PKHD1 | c.9352T>A (p.Trp3118Arg) c.9223T>A (p.Trp3075Arg) c.9214T>A (p.Trp3072Arg) c.8710T>A (p.Trp2904Arg) c.8641T>A (p.Trp2881Arg) c.3427T>A (p.Trp1143Arg) c.9277T>A (p.Trp3093Arg) c.9157T>A (p.Trp3053Arg) c.9088T>A (p.Trp3030Arg) c.7492T>A (p.Trp2498Arg) n.9628T>A | gnomAD v4 |
6 | g.51748265A>C | CA450613830 | PKHD1 | c.9351T>G (p.Leu3117=) c.9222T>G (p.Leu3074=) c.9213T>G (p.Leu3071=) c.8709T>G (p.Leu2903=) c.8640T>G (p.Leu2880=) c.3426T>G (p.Leu1142=) c.9276T>G (p.Leu3092=) c.9156T>G (p.Leu3052=) c.9087T>G (p.Leu3029=) c.7491T>G (p.Leu2497=) n.9627T>G | |
6 | g.51748265A>G | CA450613831 | PKHD1 | c.9351T>C (p.Leu3117=) c.9222T>C (p.Leu3074=) c.9213T>C (p.Leu3071=) c.8709T>C (p.Leu2903=) c.8640T>C (p.Leu2880=) c.3426T>C (p.Leu1142=) c.9276T>C (p.Leu3092=) c.9156T>C (p.Leu3052=) c.9087T>C (p.Leu3029=) c.7491T>C (p.Leu2497=) n.9627T>C | gnomAD v4 |
6 | g.51748265A>T | CA450613832 | PKHD1 | c.9351T>A (p.Leu3117=) c.9222T>A (p.Leu3074=) c.9213T>A (p.Leu3071=) c.8709T>A (p.Leu2903=) c.8640T>A (p.Leu2880=) c.3426T>A (p.Leu1142=) c.9276T>A (p.Leu3092=) c.9156T>A (p.Leu3052=) c.9087T>A (p.Leu3029=) c.7491T>A (p.Leu2497=) n.9627T>A | |
6 | g.51748266A>C | CA364421342 | PKHD1 | c.9350T>G (p.Leu3117Arg) c.9221T>G (p.Leu3074Arg) c.9212T>G (p.Leu3071Arg) c.8708T>G (p.Leu2903Arg) c.8639T>G (p.Leu2880Arg) c.3425T>G (p.Leu1142Arg) c.9275T>G (p.Leu3092Arg) c.9155T>G (p.Leu3052Arg) c.9086T>G (p.Leu3029Arg) c.7490T>G (p.Leu2497Arg) n.9626T>G | |
6 | g.51748266A>G | CA364421344 | PKHD1 | c.9350T>C (p.Leu3117Pro) c.9221T>C (p.Leu3074Pro) c.9212T>C (p.Leu3071Pro) c.8708T>C (p.Leu2903Pro) c.8639T>C (p.Leu2880Pro) c.3425T>C (p.Leu1142Pro) c.9275T>C (p.Leu3092Pro) c.9155T>C (p.Leu3052Pro) c.9086T>C (p.Leu3029Pro) c.7490T>C (p.Leu2497Pro) n.9626T>C | |
6 | g.51748266A>T | CA364421346 | PKHD1 | c.9350T>A (p.Leu3117His) c.9221T>A (p.Leu3074His) c.9212T>A (p.Leu3071His) c.8708T>A (p.Leu2903His) c.8639T>A (p.Leu2880His) c.3425T>A (p.Leu1142His) c.9275T>A (p.Leu3092His) c.9155T>A (p.Leu3052His) c.9086T>A (p.Leu3029His) c.7490T>A (p.Leu2497His) n.9626T>A | |
6 | g.51748267G>A | CA364421352 | PKHD1 | c.9349C>T (p.Leu3117Phe) c.9220C>T (p.Leu3074Phe) c.9211C>T (p.Leu3071Phe) c.8707C>T (p.Leu2903Phe) c.8638C>T (p.Leu2880Phe) c.3424C>T (p.Leu1142Phe) c.9274C>T (p.Leu3092Phe) c.9154C>T (p.Leu3052Phe) c.9085C>T (p.Leu3029Phe) c.7489C>T (p.Leu2497Phe) n.9625C>T | |
6 | g.51748267G>C | CA364421354 | PKHD1 | c.9349C>G (p.Leu3117Val) c.9220C>G (p.Leu3074Val) c.9211C>G (p.Leu3071Val) c.8707C>G (p.Leu2903Val) c.8638C>G (p.Leu2880Val) c.3424C>G (p.Leu1142Val) c.9274C>G (p.Leu3092Val) c.9154C>G (p.Leu3052Val) c.9085C>G (p.Leu3029Val) c.7489C>G (p.Leu2497Val) n.9625C>G | |
6 | g.51748267G>T | CA364421350 | PKHD1 | c.9349C>A (p.Leu3117Ile) c.9220C>A (p.Leu3074Ile) c.9211C>A (p.Leu3071Ile) c.8707C>A (p.Leu2903Ile) c.8638C>A (p.Leu2880Ile) c.3424C>A (p.Leu1142Ile) c.9274C>A (p.Leu3092Ile) c.9154C>A (p.Leu3052Ile) c.9085C>A (p.Leu3029Ile) c.7489C>A (p.Leu2497Ile) n.9625C>A | |
6 | g.51748267_51748268delinsGC | CA1628502919 | PKHD1 | c.9348_9349delinsGC (p.Leu3116=) c.9219_9220delinsGC (p.Leu3073=) c.9210_9211delinsGC (p.Leu3070=) c.8706_8707delinsGC (p.Leu2902=) c.8637_8638delinsGC (p.Leu2879=) c.3423_3424delinsGC (p.Leu1141=) c.9273_9274delinsGC (p.Leu3091=) c.9153_9154delinsGC (p.Leu3051=) c.9084_9085delinsGC (p.Leu3028=) c.7488_7489delinsGC (p.Leu2496=) n.9624_9625delinsGC | |
6 | g.51748268del | CA1139659317 | PKHD1 | c.9348del (p.Leu3117PhefsTer?) c.9219del (p.Leu3074PhefsTer?) c.9210del (p.Leu3071PhefsTer?) c.8706del (p.Leu2903PhefsTer?) c.8637del (p.Leu2880PhefsTer?) c.3423del (p.Leu1142PhefsTer?) c.9273del (p.Leu3092PhefsTer?) c.9153del (p.Leu3052PhefsTer?) c.9084del (p.Leu3029PhefsTer?) c.7488del (p.Leu2497PhefsTer?) n.9624del | ClinVar dbSNP |
6 | g.51748268C>A | CA450613833 | PKHD1 | c.9348G>T (p.Leu3116=) c.9219G>T (p.Leu3073=) c.9210G>T (p.Leu3070=) c.8706G>T (p.Leu2902=) c.8637G>T (p.Leu2879=) c.3423G>T (p.Leu1141=) c.9273G>T (p.Leu3091=) c.9153G>T (p.Leu3051=) c.9084G>T (p.Leu3028=) c.7488G>T (p.Leu2496=) n.9624G>T | dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.51748268C= | CA1628502928 | PKHD1 | c.9348G= (p.Leu3116=) c.9219G= (p.Leu3073=) c.9210G= (p.Leu3070=) c.8706G= (p.Leu2902=) c.8637G= (p.Leu2879=) c.3423G= (p.Leu1141=) c.9273G= (p.Leu3091=) c.9153G= (p.Leu3051=) c.9084G= (p.Leu3028=) c.7488G= (p.Leu2496=) n.9624G= | |
6 | g.51748268C>G | CA450613834 | PKHD1 | c.9348G>C (p.Leu3116=) c.9219G>C (p.Leu3073=) c.9210G>C (p.Leu3070=) c.8706G>C (p.Leu2902=) c.8637G>C (p.Leu2879=) c.3423G>C (p.Leu1141=) c.9273G>C (p.Leu3091=) c.9153G>C (p.Leu3051=) c.9084G>C (p.Leu3028=) c.7488G>C (p.Leu2496=) n.9624G>C | |
6 | g.51748268C>T | CA3851404 | PKHD1 | c.9348G>A (p.Leu3116=) c.9219G>A (p.Leu3073=) c.9210G>A (p.Leu3070=) c.8706G>A (p.Leu2902=) c.8637G>A (p.Leu2879=) c.3423G>A (p.Leu1141=) c.9273G>A (p.Leu3091=) c.9153G>A (p.Leu3051=) c.9084G>A (p.Leu3028=) c.7488G>A (p.Leu2496=) n.9624G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748269del | CA2695206428 | PKHD1 | c.9347del (p.Leu3116ArgfsTer?) c.9218del (p.Leu3073ArgfsTer?) c.9209del (p.Leu3070ArgfsTer?) c.8705del (p.Leu2902ArgfsTer?) c.8636del (p.Leu2879ArgfsTer?) c.3422del (p.Leu1141ArgfsTer?) c.9272del (p.Leu3091ArgfsTer?) c.9152del (p.Leu3051ArgfsTer?) c.9083del (p.Leu3028ArgfsTer?) c.7487del (p.Leu2496ArgfsTer?) n.9623del | |
6 | g.51748269A>C | CA364421359 | PKHD1 | c.9347T>G (p.Leu3116Arg) c.9218T>G (p.Leu3073Arg) c.9209T>G (p.Leu3070Arg) c.8705T>G (p.Leu2902Arg) c.8636T>G (p.Leu2879Arg) c.3422T>G (p.Leu1141Arg) c.9272T>G (p.Leu3091Arg) c.9152T>G (p.Leu3051Arg) c.9083T>G (p.Leu3028Arg) c.7487T>G (p.Leu2496Arg) n.9623T>G | |
6 | g.51748269A>G | CA364421361 | PKHD1 | c.9347T>C (p.Leu3116Pro) c.9218T>C (p.Leu3073Pro) c.9209T>C (p.Leu3070Pro) c.8705T>C (p.Leu2902Pro) c.8636T>C (p.Leu2879Pro) c.3422T>C (p.Leu1141Pro) c.9272T>C (p.Leu3091Pro) c.9152T>C (p.Leu3051Pro) c.9083T>C (p.Leu3028Pro) c.7487T>C (p.Leu2496Pro) n.9623T>C | |
6 | g.51748269A>T | CA364421364 | PKHD1 | c.9347T>A (p.Leu3116Gln) c.9218T>A (p.Leu3073Gln) c.9209T>A (p.Leu3070Gln) c.8705T>A (p.Leu2902Gln) c.8636T>A (p.Leu2879Gln) c.3422T>A (p.Leu1141Gln) c.9272T>A (p.Leu3091Gln) c.9152T>A (p.Leu3051Gln) c.9083T>A (p.Leu3028Gln) c.7487T>A (p.Leu2496Gln) n.9623T>A | |
6 | g.51748270G>A | CA450613835 | PKHD1 | c.9346C>T (p.Leu3116=) c.9217C>T (p.Leu3073=) c.9208C>T (p.Leu3070=) c.8704C>T (p.Leu2902=) c.8635C>T (p.Leu2879=) c.3421C>T (p.Leu1141=) c.9271C>T (p.Leu3091=) c.9151C>T (p.Leu3051=) c.9082C>T (p.Leu3028=) c.7486C>T (p.Leu2496=) n.9622C>T | |
6 | g.51748270G>C | CA364421367 | PKHD1 | c.9346C>G (p.Leu3116Val) c.9217C>G (p.Leu3073Val) c.9208C>G (p.Leu3070Val) c.8704C>G (p.Leu2902Val) c.8635C>G (p.Leu2879Val) c.3421C>G (p.Leu1141Val) c.9271C>G (p.Leu3091Val) c.9151C>G (p.Leu3051Val) c.9082C>G (p.Leu3028Val) c.7486C>G (p.Leu2496Val) n.9622C>G | |
6 | g.51748270G>T | CA364421368 | PKHD1 | c.9346C>A (p.Leu3116Met) c.9217C>A (p.Leu3073Met) c.9208C>A (p.Leu3070Met) c.8704C>A (p.Leu2902Met) c.8635C>A (p.Leu2879Met) c.3421C>A (p.Leu1141Met) c.9271C>A (p.Leu3091Met) c.9151C>A (p.Leu3051Met) c.9082C>A (p.Leu3028Met) c.7486C>A (p.Leu2496Met) n.9622C>A | |
6 | g.51748271T>A | CA364421371 | PKHD1 | c.9345A>T (p.Glu3115Asp) c.9216A>T (p.Glu3072Asp) c.9207A>T (p.Glu3069Asp) c.8703A>T (p.Glu2901Asp) c.8634A>T (p.Glu2878Asp) c.3420A>T (p.Glu1140Asp) c.9270A>T (p.Glu3090Asp) c.9150A>T (p.Glu3050Asp) c.9081A>T (p.Glu3027Asp) c.7485A>T (p.Glu2495Asp) n.9621A>T | |
6 | g.51748271T>C | CA3851405 | PKHD1 | c.9345A>G (p.Glu3115=) c.9216A>G (p.Glu3072=) c.9207A>G (p.Glu3069=) c.8703A>G (p.Glu2901=) c.8634A>G (p.Glu2878=) c.3420A>G (p.Glu1140=) c.9270A>G (p.Glu3090=) c.9150A>G (p.Glu3050=) c.9081A>G (p.Glu3027=) c.7485A>G (p.Glu2495=) n.9621A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748271T>G | CA364421373 | PKHD1 | c.9345A>C (p.Glu3115Asp) c.9216A>C (p.Glu3072Asp) c.9207A>C (p.Glu3069Asp) c.8703A>C (p.Glu2901Asp) c.8634A>C (p.Glu2878Asp) c.3420A>C (p.Glu1140Asp) c.9270A>C (p.Glu3090Asp) c.9150A>C (p.Glu3050Asp) c.9081A>C (p.Glu3027Asp) c.7485A>C (p.Glu2495Asp) n.9621A>C | gnomAD v4 |
6 | g.51748271T= | CA1628502942 | PKHD1 | c.9345A= (p.Glu3115=) c.9216A= (p.Glu3072=) c.9207A= (p.Glu3069=) c.8703A= (p.Glu2901=) c.8634A= (p.Glu2878=) c.3420A= (p.Glu1140=) c.9270A= (p.Glu3090=) c.9150A= (p.Glu3050=) c.9081A= (p.Glu3027=) c.7485A= (p.Glu2495=) n.9621A= | |
6 | g.51748272del | CA2695198859 | PKHD1 | c.9345del (p.Glu3115AspfsTer?) c.9216del (p.Glu3072AspfsTer?) c.9207del (p.Glu3069AspfsTer?) c.8703del (p.Glu2901AspfsTer?) c.8634del (p.Glu2878AspfsTer?) c.3420del (p.Glu1140AspfsTer?) c.9270del (p.Glu3090AspfsTer?) c.9150del (p.Glu3050AspfsTer?) c.9081del (p.Glu3027AspfsTer?) c.7485del (p.Glu2495AspfsTer?) n.9621del | ClinVar |
6 | g.51748272T>A | CA364421377 | PKHD1 | c.9344A>T (p.Glu3115Val) c.9215A>T (p.Glu3072Val) c.9206A>T (p.Glu3069Val) c.8702A>T (p.Glu2901Val) c.8633A>T (p.Glu2878Val) c.3419A>T (p.Glu1140Val) c.9269A>T (p.Glu3090Val) c.9149A>T (p.Glu3050Val) c.9080A>T (p.Glu3027Val) c.7484A>T (p.Glu2495Val) n.9620A>T | |
6 | g.51748272T>C | CA364421379 | PKHD1 | c.9344A>G (p.Glu3115Gly) c.9215A>G (p.Glu3072Gly) c.9206A>G (p.Glu3069Gly) c.8702A>G (p.Glu2901Gly) c.8633A>G (p.Glu2878Gly) c.3419A>G (p.Glu1140Gly) c.9269A>G (p.Glu3090Gly) c.9149A>G (p.Glu3050Gly) c.9080A>G (p.Glu3027Gly) c.7484A>G (p.Glu2495Gly) n.9620A>G | dbSNP |
6 | g.51748272T>G | CA364421381 | PKHD1 | c.9344A>C (p.Glu3115Ala) c.9215A>C (p.Glu3072Ala) c.9206A>C (p.Glu3069Ala) c.8702A>C (p.Glu2901Ala) c.8633A>C (p.Glu2878Ala) c.3419A>C (p.Glu1140Ala) c.9269A>C (p.Glu3090Ala) c.9149A>C (p.Glu3050Ala) c.9080A>C (p.Glu3027Ala) c.7484A>C (p.Glu2495Ala) n.9620A>C | |
6 | g.51748272T= | CA1628502946 | PKHD1 | c.9344A= (p.Glu3115=) c.9215A= (p.Glu3072=) c.9206A= (p.Glu3069=) c.8702A= (p.Glu2901=) c.8633A= (p.Glu2878=) c.3419A= (p.Glu1140=) c.9269A= (p.Glu3090=) c.9149A= (p.Glu3050=) c.9080A= (p.Glu3027=) c.7484A= (p.Glu2495=) n.9620A= | |
6 | g.51748273C>A | CA364421383 | PKHD1 | c.9343G>T (p.Glu3115Ter) c.9214G>T (p.Glu3072Ter) c.9205G>T (p.Glu3069Ter) c.8701G>T (p.Glu2901Ter) c.8632G>T (p.Glu2878Ter) c.3418G>T (p.Glu1140Ter) c.9268G>T (p.Glu3090Ter) c.9148G>T (p.Glu3050Ter) c.9079G>T (p.Glu3027Ter) c.7483G>T (p.Glu2495Ter) n.9619G>T | |
6 | g.51748273C>G | CA364421386 | PKHD1 | c.9343G>C (p.Glu3115Gln) c.9214G>C (p.Glu3072Gln) c.9205G>C (p.Glu3069Gln) c.8701G>C (p.Glu2901Gln) c.8632G>C (p.Glu2878Gln) c.3418G>C (p.Glu1140Gln) c.9268G>C (p.Glu3090Gln) c.9148G>C (p.Glu3050Gln) c.9079G>C (p.Glu3027Gln) c.7483G>C (p.Glu2495Gln) n.9619G>C | |
6 | g.51748273C>T | CA364421389 | PKHD1 | c.9343G>A (p.Glu3115Lys) c.9214G>A (p.Glu3072Lys) c.9205G>A (p.Glu3069Lys) c.8701G>A (p.Glu2901Lys) c.8632G>A (p.Glu2878Lys) c.3418G>A (p.Glu1140Lys) c.9268G>A (p.Glu3090Lys) c.9148G>A (p.Glu3050Lys) c.9079G>A (p.Glu3027Lys) c.7483G>A (p.Glu2495Lys) n.9619G>A | |
6 | g.51748274A>C | CA364421395 | PKHD1 | c.9342T>G (p.Cys3114Trp) c.9213T>G (p.Cys3071Trp) c.9204T>G (p.Cys3068Trp) c.8700T>G (p.Cys2900Trp) c.8631T>G (p.Cys2877Trp) c.3417T>G (p.Cys1139Trp) c.9267T>G (p.Cys3089Trp) c.9147T>G (p.Cys3049Trp) c.9078T>G (p.Cys3026Trp) c.7482T>G (p.Cys2494Trp) n.9618T>G | gnomAD v4 |
6 | g.51748274A>G | CA450613836 | PKHD1 | c.9342T>C (p.Cys3114=) c.9213T>C (p.Cys3071=) c.9204T>C (p.Cys3068=) c.8700T>C (p.Cys2900=) c.8631T>C (p.Cys2877=) c.3417T>C (p.Cys1139=) c.9267T>C (p.Cys3089=) c.9147T>C (p.Cys3049=) c.9078T>C (p.Cys3026=) c.7482T>C (p.Cys2494=) n.9618T>C | |
6 | g.51748274A>T | CA364421393 | PKHD1 | c.9342T>A (p.Cys3114Ter) c.9213T>A (p.Cys3071Ter) c.9204T>A (p.Cys3068Ter) c.8700T>A (p.Cys2900Ter) c.8631T>A (p.Cys2877Ter) c.3417T>A (p.Cys1139Ter) c.9267T>A (p.Cys3089Ter) c.9147T>A (p.Cys3049Ter) c.9078T>A (p.Cys3026Ter) c.7482T>A (p.Cys2494Ter) n.9618T>A | |
6 | g.51748275C>A | CA364421399 | PKHD1 | c.9341G>T (p.Cys3114Phe) c.9212G>T (p.Cys3071Phe) c.9203G>T (p.Cys3068Phe) c.8699G>T (p.Cys2900Phe) c.8630G>T (p.Cys2877Phe) c.3416G>T (p.Cys1139Phe) c.9266G>T (p.Cys3089Phe) c.9146G>T (p.Cys3049Phe) c.9077G>T (p.Cys3026Phe) c.7481G>T (p.Cys2494Phe) n.9617G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748275C= | CA1628502950 | PKHD1 | c.9341G= (p.Cys3114=) c.9212G= (p.Cys3071=) c.9203G= (p.Cys3068=) c.8699G= (p.Cys2900=) c.8630G= (p.Cys2877=) c.3416G= (p.Cys1139=) c.9266G= (p.Cys3089=) c.9146G= (p.Cys3049=) c.9077G= (p.Cys3026=) c.7481G= (p.Cys2494=) n.9617G= | |
6 | g.51748275C>G | CA364421401 | PKHD1 | c.9341G>C (p.Cys3114Ser) c.9212G>C (p.Cys3071Ser) c.9203G>C (p.Cys3068Ser) c.8699G>C (p.Cys2900Ser) c.8630G>C (p.Cys2877Ser) c.3416G>C (p.Cys1139Ser) c.9266G>C (p.Cys3089Ser) c.9146G>C (p.Cys3049Ser) c.9077G>C (p.Cys3026Ser) c.7481G>C (p.Cys2494Ser) n.9617G>C | |
6 | g.51748275C>T | CA364421404 | PKHD1 | c.9341G>A (p.Cys3114Tyr) c.9212G>A (p.Cys3071Tyr) c.9203G>A (p.Cys3068Tyr) c.8699G>A (p.Cys2900Tyr) c.8630G>A (p.Cys2877Tyr) c.3416G>A (p.Cys1139Tyr) c.9266G>A (p.Cys3089Tyr) c.9146G>A (p.Cys3049Tyr) c.9077G>A (p.Cys3026Tyr) c.7481G>A (p.Cys2494Tyr) n.9617G>A | |
6 | g.51748276A>C | CA364421407 | PKHD1 | c.9340T>G (p.Cys3114Gly) c.9211T>G (p.Cys3071Gly) c.9202T>G (p.Cys3068Gly) c.8698T>G (p.Cys2900Gly) c.8629T>G (p.Cys2877Gly) c.3415T>G (p.Cys1139Gly) c.9265T>G (p.Cys3089Gly) c.9145T>G (p.Cys3049Gly) c.9076T>G (p.Cys3026Gly) c.7480T>G (p.Cys2494Gly) n.9616T>G | |
6 | g.51748276A>G | CA364421409 | PKHD1 | c.9340T>C (p.Cys3114Arg) c.9211T>C (p.Cys3071Arg) c.9202T>C (p.Cys3068Arg) c.8698T>C (p.Cys2900Arg) c.8629T>C (p.Cys2877Arg) c.3415T>C (p.Cys1139Arg) c.9265T>C (p.Cys3089Arg) c.9145T>C (p.Cys3049Arg) c.9076T>C (p.Cys3026Arg) c.7480T>C (p.Cys2494Arg) n.9616T>C | |
6 | g.51748276A>T | CA364421411 | PKHD1 | c.9340T>A (p.Cys3114Ser) c.9211T>A (p.Cys3071Ser) c.9202T>A (p.Cys3068Ser) c.8698T>A (p.Cys2900Ser) c.8629T>A (p.Cys2877Ser) c.3415T>A (p.Cys1139Ser) c.9265T>A (p.Cys3089Ser) c.9145T>A (p.Cys3049Ser) c.9076T>A (p.Cys3026Ser) c.7480T>A (p.Cys2494Ser) n.9616T>A | |
6 | g.51748276_51748278delinsAAG | CA1628502954 | PKHD1 | c.9338_9340delinsCTT (p.Ser3113=) c.9209_9211delinsCTT (p.Ser3070=) c.9200_9202delinsCTT (p.Ser3067=) c.8696_8698delinsCTT (p.Ser2899=) c.8627_8629delinsCTT (p.Ser2876=) c.3413_3415delinsCTT (p.Ser1138=) c.9263_9265delinsCTT (p.Ser3088=) c.9143_9145delinsCTT (p.Ser3048=) c.9074_9076delinsCTT (p.Ser3025=) c.7478_7480delinsCTT (p.Ser2493=) n.9614_9616delinsCTT | |
6 | g.51748277A= | CA1628502957 | PKHD1 | c.9339T= (p.Ser3113=) c.9210T= (p.Ser3070=) c.9201T= (p.Ser3067=) c.8697T= (p.Ser2899=) c.8628T= (p.Ser2876=) c.3414T= (p.Ser1138=) c.9264T= (p.Ser3088=) c.9144T= (p.Ser3048=) c.9075T= (p.Ser3025=) c.7479T= (p.Ser2493=) n.9615T= | |
6 | g.51748277A>C | CA450613837 | PKHD1 | c.9339T>G (p.Ser3113=) c.9210T>G (p.Ser3070=) c.9201T>G (p.Ser3067=) c.8697T>G (p.Ser2899=) c.8628T>G (p.Ser2876=) c.3414T>G (p.Ser1138=) c.9264T>G (p.Ser3088=) c.9144T>G (p.Ser3048=) c.9075T>G (p.Ser3025=) c.7479T>G (p.Ser2493=) n.9615T>G | gnomAD v4 |
6 | g.51748277A>G | CA3851406 | PKHD1 | c.9339T>C (p.Ser3113=) c.9210T>C (p.Ser3070=) c.9201T>C (p.Ser3067=) c.8697T>C (p.Ser2899=) c.8628T>C (p.Ser2876=) c.3414T>C (p.Ser1138=) c.9264T>C (p.Ser3088=) c.9144T>C (p.Ser3048=) c.9075T>C (p.Ser3025=) c.7479T>C (p.Ser2493=) n.9615T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748277A>T | CA450613838 | PKHD1 | c.9339T>A (p.Ser3113=) c.9210T>A (p.Ser3070=) c.9201T>A (p.Ser3067=) c.8697T>A (p.Ser2899=) c.8628T>A (p.Ser2876=) c.3414T>A (p.Ser1138=) c.9264T>A (p.Ser3088=) c.9144T>A (p.Ser3048=) c.9075T>A (p.Ser3025=) c.7479T>A (p.Ser2493=) n.9615T>A | ClinVar |
6 | g.51748277_51748278delinsAG | CA1628502958 | PKHD1 | c.9338_9339delinsCT (p.Ser3113=) c.9209_9210delinsCT (p.Ser3070=) c.9200_9201delinsCT (p.Ser3067=) c.8696_8697delinsCT (p.Ser2899=) c.8627_8628delinsCT (p.Ser2876=) c.3413_3414delinsCT (p.Ser1138=) c.9263_9264delinsCT (p.Ser3088=) c.9143_9144delinsCT (p.Ser3048=) c.9074_9075delinsCT (p.Ser3025=) c.7478_7479delinsCT (p.Ser2493=) n.9614_9615delinsCT | |
6 | g.51748279_51748280del | CA138896366 | PKHD1 | c.9338_9339del (p.Ser3113LeufsTer2) c.9209_9210del (p.Ser3070LeufsTer2) c.9200_9201del (p.Ser3067LeufsTer2) c.8696_8697del (p.Ser2899LeufsTer2) c.8627_8628del (p.Ser2876LeufsTer2) c.3413_3414del (p.Ser1138LeufsTer2) c.9263_9264del (p.Ser3088LeufsTer2) c.9143_9144del (p.Ser3048LeufsTer2) c.9074_9075del (p.Ser3025LeufsTer2) c.7478_7479del (p.Ser2493LeufsTer2) n.9614_9615del | dbSNP |
6 | g.51748278del | CA567636018 | PKHD1 | c.9338del (p.Ser3113PhefsTer?) c.9209del (p.Ser3070PhefsTer?) c.9200del (p.Ser3067PhefsTer?) c.8696del (p.Ser2899PhefsTer?) c.8627del (p.Ser2876PhefsTer?) c.3413del (p.Ser1138PhefsTer?) c.9263del (p.Ser3088PhefsTer?) c.9143del (p.Ser3048PhefsTer?) c.9074del (p.Ser3025PhefsTer?) c.7478del (p.Ser2493PhefsTer?) n.9614del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748278G>A | CA364421416 | PKHD1 | c.9338C>T (p.Ser3113Phe) c.9209C>T (p.Ser3070Phe) c.9200C>T (p.Ser3067Phe) c.8696C>T (p.Ser2899Phe) c.8627C>T (p.Ser2876Phe) c.3413C>T (p.Ser1138Phe) c.9263C>T (p.Ser3088Phe) c.9143C>T (p.Ser3048Phe) c.9074C>T (p.Ser3025Phe) c.7478C>T (p.Ser2493Phe) n.9614C>T | gnomAD v4 |
6 | g.51748278G>C | CA364421419 | PKHD1 | c.9338C>G (p.Ser3113Cys) c.9209C>G (p.Ser3070Cys) c.9200C>G (p.Ser3067Cys) c.8696C>G (p.Ser2899Cys) c.8627C>G (p.Ser2876Cys) c.3413C>G (p.Ser1138Cys) c.9263C>G (p.Ser3088Cys) c.9143C>G (p.Ser3048Cys) c.9074C>G (p.Ser3025Cys) c.7478C>G (p.Ser2493Cys) n.9614C>G | |
6 | g.51748278G>T | CA364421421 | PKHD1 | c.9338C>A (p.Ser3113Tyr) c.9209C>A (p.Ser3070Tyr) c.9200C>A (p.Ser3067Tyr) c.8696C>A (p.Ser2899Tyr) c.8627C>A (p.Ser2876Tyr) c.3413C>A (p.Ser1138Tyr) c.9263C>A (p.Ser3088Tyr) c.9143C>A (p.Ser3048Tyr) c.9074C>A (p.Ser3025Tyr) c.7478C>A (p.Ser2493Tyr) n.9614C>A | COSMIC COSMIC |
6 | g.51748279A>C | CA364421423 | PKHD1 | c.9337T>G (p.Ser3113Ala) c.9208T>G (p.Ser3070Ala) c.9199T>G (p.Ser3067Ala) c.8695T>G (p.Ser2899Ala) c.8626T>G (p.Ser2876Ala) c.3412T>G (p.Ser1138Ala) c.9262T>G (p.Ser3088Ala) c.9142T>G (p.Ser3048Ala) c.9073T>G (p.Ser3025Ala) c.7477T>G (p.Ser2493Ala) n.9613T>G | |
6 | g.51748279A>G | CA364421425 | PKHD1 | c.9337T>C (p.Ser3113Pro) c.9208T>C (p.Ser3070Pro) c.9199T>C (p.Ser3067Pro) c.8695T>C (p.Ser2899Pro) c.8626T>C (p.Ser2876Pro) c.3412T>C (p.Ser1138Pro) c.9262T>C (p.Ser3088Pro) c.9142T>C (p.Ser3048Pro) c.9073T>C (p.Ser3025Pro) c.7477T>C (p.Ser2493Pro) n.9613T>C | |
6 | g.51748279A>T | CA364421427 | PKHD1 | c.9337T>A (p.Ser3113Thr) c.9208T>A (p.Ser3070Thr) c.9199T>A (p.Ser3067Thr) c.8695T>A (p.Ser2899Thr) c.8626T>A (p.Ser2876Thr) c.3412T>A (p.Ser1138Thr) c.9262T>A (p.Ser3088Thr) c.9142T>A (p.Ser3048Thr) c.9073T>A (p.Ser3025Thr) c.7477T>A (p.Ser2493Thr) n.9613T>A | |
6 | g.51748280G>A | CA450613839 | PKHD1 | c.9336C>T (p.Ser3112=) c.9207C>T (p.Ser3069=) c.9198C>T (p.Ser3066=) c.8694C>T (p.Ser2898=) c.8625C>T (p.Ser2875=) c.3411C>T (p.Ser1137=) c.9261C>T (p.Ser3087=) c.9141C>T (p.Ser3047=) c.9072C>T (p.Ser3024=) c.7476C>T (p.Ser2492=) n.9612C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748280G>C | CA450613840 | PKHD1 | c.9336C>G (p.Ser3112=) c.9207C>G (p.Ser3069=) c.9198C>G (p.Ser3066=) c.8694C>G (p.Ser2898=) c.8625C>G (p.Ser2875=) c.3411C>G (p.Ser1137=) c.9261C>G (p.Ser3087=) c.9141C>G (p.Ser3047=) c.9072C>G (p.Ser3024=) c.7476C>G (p.Ser2492=) n.9612C>G | |
6 | g.51748280G= | CA1628502966 | PKHD1 | c.9336C= (p.Ser3112=) c.9207C= (p.Ser3069=) c.9198C= (p.Ser3066=) c.8694C= (p.Ser2898=) c.8625C= (p.Ser2875=) c.3411C= (p.Ser1137=) c.9261C= (p.Ser3087=) c.9141C= (p.Ser3047=) c.9072C= (p.Ser3024=) c.7476C= (p.Ser2492=) n.9612C= | |
6 | g.51748280G>T | CA450613841 | PKHD1 | c.9336C>A (p.Ser3112=) c.9207C>A (p.Ser3069=) c.9198C>A (p.Ser3066=) c.8694C>A (p.Ser2898=) c.8625C>A (p.Ser2875=) c.3411C>A (p.Ser1137=) c.9261C>A (p.Ser3087=) c.9141C>A (p.Ser3047=) c.9072C>A (p.Ser3024=) c.7476C>A (p.Ser2492=) n.9612C>A | |
6 | g.51748281G>A | CA364421434 | PKHD1 | c.9335C>T (p.Ser3112Phe) c.9206C>T (p.Ser3069Phe) c.9197C>T (p.Ser3066Phe) c.8693C>T (p.Ser2898Phe) c.8624C>T (p.Ser2875Phe) c.3410C>T (p.Ser1137Phe) c.9260C>T (p.Ser3087Phe) c.9140C>T (p.Ser3047Phe) c.9071C>T (p.Ser3024Phe) c.7475C>T (p.Ser2492Phe) n.9611C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748281G>C | CA364421431 | PKHD1 | c.9335C>G (p.Ser3112Cys) c.9206C>G (p.Ser3069Cys) c.9197C>G (p.Ser3066Cys) c.8693C>G (p.Ser2898Cys) c.8624C>G (p.Ser2875Cys) c.3410C>G (p.Ser1137Cys) c.9260C>G (p.Ser3087Cys) c.9140C>G (p.Ser3047Cys) c.9071C>G (p.Ser3024Cys) c.7475C>G (p.Ser2492Cys) n.9611C>G | gnomAD v4 |
6 | g.51748281G= | CA1628502971 | PKHD1 | c.9335C= (p.Ser3112=) c.9206C= (p.Ser3069=) c.9197C= (p.Ser3066=) c.8693C= (p.Ser2898=) c.8624C= (p.Ser2875=) c.3410C= (p.Ser1137=) c.9260C= (p.Ser3087=) c.9140C= (p.Ser3047=) c.9071C= (p.Ser3024=) c.7475C= (p.Ser2492=) n.9611C= | |
6 | g.51748281G>T | CA364421430 | PKHD1 | c.9335C>A (p.Ser3112Tyr) c.9206C>A (p.Ser3069Tyr) c.9197C>A (p.Ser3066Tyr) c.8693C>A (p.Ser2898Tyr) c.8624C>A (p.Ser2875Tyr) c.3410C>A (p.Ser1137Tyr) c.9260C>A (p.Ser3087Tyr) c.9140C>A (p.Ser3047Tyr) c.9071C>A (p.Ser3024Tyr) c.7475C>A (p.Ser2492Tyr) n.9611C>A | |
6 | g.51748282A= | CA1628502974 | PKHD1 | c.9334T= (p.Ser3112=) c.9205T= (p.Ser3069=) c.9196T= (p.Ser3066=) c.8692T= (p.Ser2898=) c.8623T= (p.Ser2875=) c.3409T= (p.Ser1137=) c.9259T= (p.Ser3087=) c.9139T= (p.Ser3047=) c.9070T= (p.Ser3024=) c.7474T= (p.Ser2492=) n.9610T= | |
6 | g.51748282A>C | CA364421437 | PKHD1 | c.9334T>G (p.Ser3112Ala) c.9205T>G (p.Ser3069Ala) c.9196T>G (p.Ser3066Ala) c.8692T>G (p.Ser2898Ala) c.8623T>G (p.Ser2875Ala) c.3409T>G (p.Ser1137Ala) c.9259T>G (p.Ser3087Ala) c.9139T>G (p.Ser3047Ala) c.9070T>G (p.Ser3024Ala) c.7474T>G (p.Ser2492Ala) n.9610T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748282A>G | CA364421439 | PKHD1 | c.9334T>C (p.Ser3112Pro) c.9205T>C (p.Ser3069Pro) c.9196T>C (p.Ser3066Pro) c.8692T>C (p.Ser2898Pro) c.8623T>C (p.Ser2875Pro) c.3409T>C (p.Ser1137Pro) c.9259T>C (p.Ser3087Pro) c.9139T>C (p.Ser3047Pro) c.9070T>C (p.Ser3024Pro) c.7474T>C (p.Ser2492Pro) n.9610T>C | |
6 | g.51748282A>T | CA364421441 | PKHD1 | c.9334T>A (p.Ser3112Thr) c.9205T>A (p.Ser3069Thr) c.9196T>A (p.Ser3066Thr) c.8692T>A (p.Ser2898Thr) c.8623T>A (p.Ser2875Thr) c.3409T>A (p.Ser1137Thr) c.9259T>A (p.Ser3087Thr) c.9139T>A (p.Ser3047Thr) c.9070T>A (p.Ser3024Thr) c.7474T>A (p.Ser2492Thr) n.9610T>A | |
6 | g.51748283G>A | CA450613842 | PKHD1 | c.9333C>T (p.Cys3111=) c.9204C>T (p.Cys3068=) c.9195C>T (p.Cys3065=) c.8691C>T (p.Cys2897=) c.8622C>T (p.Cys2874=) c.3408C>T (p.Cys1136=) c.9258C>T (p.Cys3086=) c.9138C>T (p.Cys3046=) c.9069C>T (p.Cys3023=) c.7473C>T (p.Cys2491=) n.9609C>T | |
6 | g.51748283G>C | CA364421444 | PKHD1 | c.9333C>G (p.Cys3111Trp) c.9204C>G (p.Cys3068Trp) c.9195C>G (p.Cys3065Trp) c.8691C>G (p.Cys2897Trp) c.8622C>G (p.Cys2874Trp) c.3408C>G (p.Cys1136Trp) c.9258C>G (p.Cys3086Trp) c.9138C>G (p.Cys3046Trp) c.9069C>G (p.Cys3023Trp) c.7473C>G (p.Cys2491Trp) n.9609C>G | |
6 | g.51748283G>T | CA364421445 | PKHD1 | c.9333C>A (p.Cys3111Ter) c.9204C>A (p.Cys3068Ter) c.9195C>A (p.Cys3065Ter) c.8691C>A (p.Cys2897Ter) c.8622C>A (p.Cys2874Ter) c.3408C>A (p.Cys1136Ter) c.9258C>A (p.Cys3086Ter) c.9138C>A (p.Cys3046Ter) c.9069C>A (p.Cys3023Ter) c.7473C>A (p.Cys2491Ter) n.9609C>A | |
6 | g.51748284C>A | CA364421448 | PKHD1 | c.9332G>T (p.Cys3111Phe) c.9203G>T (p.Cys3068Phe) c.9194G>T (p.Cys3065Phe) c.8690G>T (p.Cys2897Phe) c.8621G>T (p.Cys2874Phe) c.3407G>T (p.Cys1136Phe) c.9257G>T (p.Cys3086Phe) c.9137G>T (p.Cys3046Phe) c.9068G>T (p.Cys3023Phe) c.7472G>T (p.Cys2491Phe) n.9608G>T | gnomAD v4 |
6 | g.51748284C= | CA1628502977 | PKHD1 | c.9332G= (p.Cys3111=) c.9203G= (p.Cys3068=) c.9194G= (p.Cys3065=) c.8690G= (p.Cys2897=) c.8621G= (p.Cys2874=) c.3407G= (p.Cys1136=) c.9257G= (p.Cys3086=) c.9137G= (p.Cys3046=) c.9068G= (p.Cys3023=) c.7472G= (p.Cys2491=) n.9608G= | |
6 | g.51748284C>G | CA364421450 | PKHD1 | c.9332G>C (p.Cys3111Ser) c.9203G>C (p.Cys3068Ser) c.9194G>C (p.Cys3065Ser) c.8690G>C (p.Cys2897Ser) c.8621G>C (p.Cys2874Ser) c.3407G>C (p.Cys1136Ser) c.9257G>C (p.Cys3086Ser) c.9137G>C (p.Cys3046Ser) c.9068G>C (p.Cys3023Ser) c.7472G>C (p.Cys2491Ser) n.9608G>C | |
6 | g.51748284C>T | CA364421452 | PKHD1 | c.9332G>A (p.Cys3111Tyr) c.9203G>A (p.Cys3068Tyr) c.9194G>A (p.Cys3065Tyr) c.8690G>A (p.Cys2897Tyr) c.8621G>A (p.Cys2874Tyr) c.3407G>A (p.Cys1136Tyr) c.9257G>A (p.Cys3086Tyr) c.9137G>A (p.Cys3046Tyr) c.9068G>A (p.Cys3023Tyr) c.7472G>A (p.Cys2491Tyr) n.9608G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748285A>C | CA364421456 | PKHD1 | c.9331T>G (p.Cys3111Gly) c.9202T>G (p.Cys3068Gly) c.9193T>G (p.Cys3065Gly) c.8689T>G (p.Cys2897Gly) c.8620T>G (p.Cys2874Gly) c.3406T>G (p.Cys1136Gly) c.9256T>G (p.Cys3086Gly) c.9136T>G (p.Cys3046Gly) c.9067T>G (p.Cys3023Gly) c.7471T>G (p.Cys2491Gly) n.9607T>G | |
6 | g.51748285A>G | CA364421457 | PKHD1 | c.9331T>C (p.Cys3111Arg) c.9202T>C (p.Cys3068Arg) c.9193T>C (p.Cys3065Arg) c.8689T>C (p.Cys2897Arg) c.8620T>C (p.Cys2874Arg) c.3406T>C (p.Cys1136Arg) c.9256T>C (p.Cys3086Arg) c.9136T>C (p.Cys3046Arg) c.9067T>C (p.Cys3023Arg) c.7471T>C (p.Cys2491Arg) n.9607T>C | |
6 | g.51748285A>T | CA364421458 | PKHD1 | c.9331T>A (p.Cys3111Ser) c.9202T>A (p.Cys3068Ser) c.9193T>A (p.Cys3065Ser) c.8689T>A (p.Cys2897Ser) c.8620T>A (p.Cys2874Ser) c.3406T>A (p.Cys1136Ser) c.9256T>A (p.Cys3086Ser) c.9136T>A (p.Cys3046Ser) c.9067T>A (p.Cys3023Ser) c.7471T>A (p.Cys2491Ser) n.9607T>A | |
6 | g.51748286C>A | CA364421460 | PKHD1 | c.9330G>T (p.Lys3110Asn) c.9201G>T (p.Lys3067Asn) c.9192G>T (p.Lys3064Asn) c.8688G>T (p.Lys2896Asn) c.8619G>T (p.Lys2873Asn) c.3405G>T (p.Lys1135Asn) c.9255G>T (p.Lys3085Asn) c.9135G>T (p.Lys3045Asn) c.9066G>T (p.Lys3022Asn) c.7470G>T (p.Lys2490Asn) n.9606G>T | |
6 | g.51748286C= | CA1628502983 | PKHD1 | c.9330G= (p.Lys3110=) c.9201G= (p.Lys3067=) c.9192G= (p.Lys3064=) c.8688G= (p.Lys2896=) c.8619G= (p.Lys2873=) c.3405G= (p.Lys1135=) c.9255G= (p.Lys3085=) c.9135G= (p.Lys3045=) c.9066G= (p.Lys3022=) c.7470G= (p.Lys2490=) n.9606G= | |
6 | g.51748286C>G | CA364421462 | PKHD1 | c.9330G>C (p.Lys3110Asn) c.9201G>C (p.Lys3067Asn) c.9192G>C (p.Lys3064Asn) c.8688G>C (p.Lys2896Asn) c.8619G>C (p.Lys2873Asn) c.3405G>C (p.Lys1135Asn) c.9255G>C (p.Lys3085Asn) c.9135G>C (p.Lys3045Asn) c.9066G>C (p.Lys3022Asn) c.7470G>C (p.Lys2490Asn) n.9606G>C | |
6 | g.51748286C>T | CA450613843 | PKHD1 | c.9330G>A (p.Lys3110=) c.9201G>A (p.Lys3067=) c.9192G>A (p.Lys3064=) c.8688G>A (p.Lys2896=) c.8619G>A (p.Lys2873=) c.3405G>A (p.Lys1135=) c.9255G>A (p.Lys3085=) c.9135G>A (p.Lys3045=) c.9066G>A (p.Lys3022=) c.7470G>A (p.Lys2490=) n.9606G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748287T>A | CA364421467 | PKHD1 | c.9329A>T (p.Lys3110Met) c.9200A>T (p.Lys3067Met) c.9191A>T (p.Lys3064Met) c.8687A>T (p.Lys2896Met) c.8618A>T (p.Lys2873Met) c.3404A>T (p.Lys1135Met) c.9254A>T (p.Lys3085Met) c.9134A>T (p.Lys3045Met) c.9065A>T (p.Lys3022Met) c.7469A>T (p.Lys2490Met) n.9605A>T | |
6 | g.51748287T>C | CA364421471 | PKHD1 | c.9329A>G (p.Lys3110Arg) c.9200A>G (p.Lys3067Arg) c.9191A>G (p.Lys3064Arg) c.8687A>G (p.Lys2896Arg) c.8618A>G (p.Lys2873Arg) c.3404A>G (p.Lys1135Arg) c.9254A>G (p.Lys3085Arg) c.9134A>G (p.Lys3045Arg) c.9065A>G (p.Lys3022Arg) c.7469A>G (p.Lys2490Arg) n.9605A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748287T>G | CA364421464 | PKHD1 | c.9329A>C (p.Lys3110Thr) c.9200A>C (p.Lys3067Thr) c.9191A>C (p.Lys3064Thr) c.8687A>C (p.Lys2896Thr) c.8618A>C (p.Lys2873Thr) c.3404A>C (p.Lys1135Thr) c.9254A>C (p.Lys3085Thr) c.9134A>C (p.Lys3045Thr) c.9065A>C (p.Lys3022Thr) c.7469A>C (p.Lys2490Thr) n.9605A>C | |
6 | g.51748287T= | CA1628502985 | PKHD1 | c.9329A= (p.Lys3110=) c.9200A= (p.Lys3067=) c.9191A= (p.Lys3064=) c.8687A= (p.Lys2896=) c.8618A= (p.Lys2873=) c.3404A= (p.Lys1135=) c.9254A= (p.Lys3085=) c.9134A= (p.Lys3045=) c.9065A= (p.Lys3022=) c.7469A= (p.Lys2490=) n.9605A= | |
6 | g.51748288dup | CA2580075447 | PKHD1 | c.9329dup (p.Cys3111ValfsTer5) c.9200dup (p.Cys3068ValfsTer5) c.9191dup (p.Cys3065ValfsTer5) c.8687dup (p.Cys2897ValfsTer5) c.8618dup (p.Cys2874ValfsTer5) c.3404dup (p.Cys1136ValfsTer5) c.9254dup (p.Cys3086ValfsTer5) c.9134dup (p.Cys3046ValfsTer5) c.9065dup (p.Cys3023ValfsTer5) c.7469dup (p.Cys2491ValfsTer5) n.9605dup | ClinVar |
6 | g.51748288T>A | CA364421473 | PKHD1 | c.9328A>T (p.Lys3110Ter) c.9199A>T (p.Lys3067Ter) c.9190A>T (p.Lys3064Ter) c.8686A>T (p.Lys2896Ter) c.8617A>T (p.Lys2873Ter) c.3403A>T (p.Lys1135Ter) c.9253A>T (p.Lys3085Ter) c.9133A>T (p.Lys3045Ter) c.9064A>T (p.Lys3022Ter) c.7468A>T (p.Lys2490Ter) n.9604A>T | |
6 | g.51748288T>C | CA364421474 | PKHD1 | c.9328A>G (p.Lys3110Glu) c.9199A>G (p.Lys3067Glu) c.9190A>G (p.Lys3064Glu) c.8686A>G (p.Lys2896Glu) c.8617A>G (p.Lys2873Glu) c.3403A>G (p.Lys1135Glu) c.9253A>G (p.Lys3085Glu) c.9133A>G (p.Lys3045Glu) c.9064A>G (p.Lys3022Glu) c.7468A>G (p.Lys2490Glu) n.9604A>G | |
6 | g.51748288T>G | CA364421480 | PKHD1 | c.9328A>C (p.Lys3110Gln) c.9199A>C (p.Lys3067Gln) c.9190A>C (p.Lys3064Gln) c.8686A>C (p.Lys2896Gln) c.8617A>C (p.Lys2873Gln) c.3403A>C (p.Lys1135Gln) c.9253A>C (p.Lys3085Gln) c.9133A>C (p.Lys3045Gln) c.9064A>C (p.Lys3022Gln) c.7468A>C (p.Lys2490Gln) n.9604A>C | |
6 | g.51748289G>A | CA450613844 | PKHD1 | c.9327C>T (p.His3109=) c.9198C>T (p.His3066=) c.9189C>T (p.His3063=) c.8685C>T (p.His2895=) c.8616C>T (p.His2872=) c.3402C>T (p.His1134=) c.9252C>T (p.His3084=) c.9132C>T (p.His3044=) c.9063C>T (p.His3021=) c.7467C>T (p.His2489=) n.9603C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748289G>C | CA364421483 | PKHD1 | c.9327C>G (p.His3109Gln) c.9198C>G (p.His3066Gln) c.9189C>G (p.His3063Gln) c.8685C>G (p.His2895Gln) c.8616C>G (p.His2872Gln) c.3402C>G (p.His1134Gln) c.9252C>G (p.His3084Gln) c.9132C>G (p.His3044Gln) c.9063C>G (p.His3021Gln) c.7467C>G (p.His2489Gln) n.9603C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748289G= | CA1628502988 | PKHD1 | c.9327C= (p.His3109=) c.9198C= (p.His3066=) c.9189C= (p.His3063=) c.8685C= (p.His2895=) c.8616C= (p.His2872=) c.3402C= (p.His1134=) c.9252C= (p.His3084=) c.9132C= (p.His3044=) c.9063C= (p.His3021=) c.7467C= (p.His2489=) n.9603C= | |
6 | g.51748289G>T | CA364421486 | PKHD1 | c.9327C>A (p.His3109Gln) c.9198C>A (p.His3066Gln) c.9189C>A (p.His3063Gln) c.8685C>A (p.His2895Gln) c.8616C>A (p.His2872Gln) c.3402C>A (p.His1134Gln) c.9252C>A (p.His3084Gln) c.9132C>A (p.His3044Gln) c.9063C>A (p.His3021Gln) c.7467C>A (p.His2489Gln) n.9603C>A | |
6 | g.51748290T>A | CA364421494 | PKHD1 | c.9326A>T (p.His3109Leu) c.9197A>T (p.His3066Leu) c.9188A>T (p.His3063Leu) c.8684A>T (p.His2895Leu) c.8615A>T (p.His2872Leu) c.3401A>T (p.His1134Leu) c.9251A>T (p.His3084Leu) c.9131A>T (p.His3044Leu) c.9062A>T (p.His3021Leu) c.7466A>T (p.His2489Leu) n.9602A>T | |
6 | g.51748290T>C | CA364421489 | PKHD1 | c.9326A>G (p.His3109Arg) c.9197A>G (p.His3066Arg) c.9188A>G (p.His3063Arg) c.8684A>G (p.His2895Arg) c.8615A>G (p.His2872Arg) c.3401A>G (p.His1134Arg) c.9251A>G (p.His3084Arg) c.9131A>G (p.His3044Arg) c.9062A>G (p.His3021Arg) c.7466A>G (p.His2489Arg) n.9602A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748290T>G | CA364421492 | PKHD1 | c.9326A>C (p.His3109Pro) c.9197A>C (p.His3066Pro) c.9188A>C (p.His3063Pro) c.8684A>C (p.His2895Pro) c.8615A>C (p.His2872Pro) c.3401A>C (p.His1134Pro) c.9251A>C (p.His3084Pro) c.9131A>C (p.His3044Pro) c.9062A>C (p.His3021Pro) c.7466A>C (p.His2489Pro) n.9602A>C | |
6 | g.51748290T= | CA1628502992 | PKHD1 | c.9326A= (p.His3109=) c.9197A= (p.His3066=) c.9188A= (p.His3063=) c.8684A= (p.His2895=) c.8615A= (p.His2872=) c.3401A= (p.His1134=) c.9251A= (p.His3084=) c.9131A= (p.His3044=) c.9062A= (p.His3021=) c.7466A= (p.His2489=) n.9602A= | |
6 | g.51748291G>A | CA364421498 | PKHD1 | c.9325C>T (p.His3109Tyr) c.9196C>T (p.His3066Tyr) c.9187C>T (p.His3063Tyr) c.8683C>T (p.His2895Tyr) c.8614C>T (p.His2872Tyr) c.3400C>T (p.His1134Tyr) c.9250C>T (p.His3084Tyr) c.9130C>T (p.His3044Tyr) c.9061C>T (p.His3021Tyr) c.7465C>T (p.His2489Tyr) n.9601C>T | |
6 | g.51748291G>C | CA364421503 | PKHD1 | c.9325C>G (p.His3109Asp) c.9196C>G (p.His3066Asp) c.9187C>G (p.His3063Asp) c.8683C>G (p.His2895Asp) c.8614C>G (p.His2872Asp) c.3400C>G (p.His1134Asp) c.9250C>G (p.His3084Asp) c.9130C>G (p.His3044Asp) c.9061C>G (p.His3021Asp) c.7465C>G (p.His2489Asp) n.9601C>G | |
6 | g.51748291G>T | CA364421506 | PKHD1 | c.9325C>A (p.His3109Asn) c.9196C>A (p.His3066Asn) c.9187C>A (p.His3063Asn) c.8683C>A (p.His2895Asn) c.8614C>A (p.His2872Asn) c.3400C>A (p.His1134Asn) c.9250C>A (p.His3084Asn) c.9130C>A (p.His3044Asn) c.9061C>A (p.His3021Asn) c.7465C>A (p.His2489Asn) n.9601C>A | |
6 | g.51748292G>A | CA450613847 | PKHD1 | c.9324C>T (p.Gly3108=) c.9195C>T (p.Gly3065=) c.9186C>T (p.Gly3062=) c.8682C>T (p.Gly2894=) c.8613C>T (p.Gly2871=) c.3399C>T (p.Gly1133=) c.9249C>T (p.Gly3083=) c.9129C>T (p.Gly3043=) c.9060C>T (p.Gly3020=) c.7464C>T (p.Gly2488=) n.9600C>T | |
6 | g.51748292G>C | CA450613846 | PKHD1 | c.9324C>G (p.Gly3108=) c.9195C>G (p.Gly3065=) c.9186C>G (p.Gly3062=) c.8682C>G (p.Gly2894=) c.8613C>G (p.Gly2871=) c.3399C>G (p.Gly1133=) c.9249C>G (p.Gly3083=) c.9129C>G (p.Gly3043=) c.9060C>G (p.Gly3020=) c.7464C>G (p.Gly2488=) n.9600C>G | |
6 | g.51748292G>T | CA450613845 | PKHD1 | c.9324C>A (p.Gly3108=) c.9195C>A (p.Gly3065=) c.9186C>A (p.Gly3062=) c.8682C>A (p.Gly2894=) c.8613C>A (p.Gly2871=) c.3399C>A (p.Gly1133=) c.9249C>A (p.Gly3083=) c.9129C>A (p.Gly3043=) c.9060C>A (p.Gly3020=) c.7464C>A (p.Gly2488=) n.9600C>A | dbSNP |
6 | g.51748293C>A | CA364421510 | PKHD1 | c.9323G>T (p.Gly3108Val) c.9194G>T (p.Gly3065Val) c.9185G>T (p.Gly3062Val) c.8681G>T (p.Gly2894Val) c.8612G>T (p.Gly2871Val) c.3398G>T (p.Gly1133Val) c.9248G>T (p.Gly3083Val) c.9128G>T (p.Gly3043Val) c.9059G>T (p.Gly3020Val) c.7463G>T (p.Gly2488Val) n.9599G>T | gnomAD v4 |
6 | g.51748293C= | CA1628502995 | PKHD1 | c.9323G= (p.Gly3108=) c.9194G= (p.Gly3065=) c.9185G= (p.Gly3062=) c.8681G= (p.Gly2894=) c.8612G= (p.Gly2871=) c.3398G= (p.Gly1133=) c.9248G= (p.Gly3083=) c.9128G= (p.Gly3043=) c.9059G= (p.Gly3020=) c.7463G= (p.Gly2488=) n.9599G= | |
6 | g.51748293C>G | CA364421514 | PKHD1 | c.9323G>C (p.Gly3108Ala) c.9194G>C (p.Gly3065Ala) c.9185G>C (p.Gly3062Ala) c.8681G>C (p.Gly2894Ala) c.8612G>C (p.Gly2871Ala) c.3398G>C (p.Gly1133Ala) c.9248G>C (p.Gly3083Ala) c.9128G>C (p.Gly3043Ala) c.9059G>C (p.Gly3020Ala) c.7463G>C (p.Gly2488Ala) n.9599G>C | gnomAD v4 |
6 | g.51748293C>T | CA3851407 | PKHD1 | c.9323G>A (p.Gly3108Asp) c.9194G>A (p.Gly3065Asp) c.9185G>A (p.Gly3062Asp) c.8681G>A (p.Gly2894Asp) c.8612G>A (p.Gly2871Asp) c.3398G>A (p.Gly1133Asp) c.9248G>A (p.Gly3083Asp) c.9128G>A (p.Gly3043Asp) c.9059G>A (p.Gly3020Asp) c.7463G>A (p.Gly2488Asp) n.9599G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748294C>A | CA364421525 | PKHD1 | c.9322G>T (p.Gly3108Cys) c.9193G>T (p.Gly3065Cys) c.9184G>T (p.Gly3062Cys) c.8680G>T (p.Gly2894Cys) c.8611G>T (p.Gly2871Cys) c.3397G>T (p.Gly1133Cys) c.9247G>T (p.Gly3083Cys) c.9127G>T (p.Gly3043Cys) c.9058G>T (p.Gly3020Cys) c.7462G>T (p.Gly2488Cys) n.9598G>T | |
6 | g.51748294C>G | CA364421528 | PKHD1 | c.9322G>C (p.Gly3108Arg) c.9193G>C (p.Gly3065Arg) c.9184G>C (p.Gly3062Arg) c.8680G>C (p.Gly2894Arg) c.8611G>C (p.Gly2871Arg) c.3397G>C (p.Gly1133Arg) c.9247G>C (p.Gly3083Arg) c.9127G>C (p.Gly3043Arg) c.9058G>C (p.Gly3020Arg) c.7462G>C (p.Gly2488Arg) n.9598G>C | |
6 | g.51748294C>T | CA364421519 | PKHD1 | c.9322G>A (p.Gly3108Ser) c.9193G>A (p.Gly3065Ser) c.9184G>A (p.Gly3062Ser) c.8680G>A (p.Gly2894Ser) c.8611G>A (p.Gly2871Ser) c.3397G>A (p.Gly1133Ser) c.9247G>A (p.Gly3083Ser) c.9127G>A (p.Gly3043Ser) c.9058G>A (p.Gly3020Ser) c.7462G>A (p.Gly2488Ser) n.9598G>A | gnomAD v4 |
6 | g.51748295T>A | CA450613848 | PKHD1 | c.9321A>T (p.Arg3107=) c.9192A>T (p.Arg3064=) c.9183A>T (p.Arg3061=) c.8679A>T (p.Arg2893=) c.8610A>T (p.Arg2870=) c.3396A>T (p.Arg1132=) c.9246A>T (p.Arg3082=) c.9126A>T (p.Arg3042=) c.9057A>T (p.Arg3019=) c.7461A>T (p.Arg2487=) n.9597A>T | |
6 | g.51748295T>C | CA450613849 | PKHD1 | c.9321A>G (p.Arg3107=) c.9192A>G (p.Arg3064=) c.9183A>G (p.Arg3061=) c.8679A>G (p.Arg2893=) c.8610A>G (p.Arg2870=) c.3396A>G (p.Arg1132=) c.9246A>G (p.Arg3082=) c.9126A>G (p.Arg3042=) c.9057A>G (p.Arg3019=) c.7461A>G (p.Arg2487=) n.9597A>G | |
6 | g.51748295T>G | CA450613850 | PKHD1 | c.9321A>C (p.Arg3107=) c.9192A>C (p.Arg3064=) c.9183A>C (p.Arg3061=) c.8679A>C (p.Arg2893=) c.8610A>C (p.Arg2870=) c.3396A>C (p.Arg1132=) c.9246A>C (p.Arg3082=) c.9126A>C (p.Arg3042=) c.9057A>C (p.Arg3019=) c.7461A>C (p.Arg2487=) n.9597A>C | |
6 | g.51748296C>A | CA364421536 | PKHD1 | c.9320G>T (p.Arg3107Leu) c.9191G>T (p.Arg3064Leu) c.9182G>T (p.Arg3061Leu) c.8678G>T (p.Arg2893Leu) c.8609G>T (p.Arg2870Leu) c.3395G>T (p.Arg1132Leu) c.9245G>T (p.Arg3082Leu) c.9125G>T (p.Arg3042Leu) c.9056G>T (p.Arg3019Leu) c.7460G>T (p.Arg2487Leu) n.9596G>T | gnomAD v4 |
6 | g.51748296C= | CA1628502999 | PKHD1 | c.9320G= (p.Arg3107=) c.9191G= (p.Arg3064=) c.9182G= (p.Arg3061=) c.8678G= (p.Arg2893=) c.8609G= (p.Arg2870=) c.3395G= (p.Arg1132=) c.9245G= (p.Arg3082=) c.9125G= (p.Arg3042=) c.9056G= (p.Arg3019=) c.7460G= (p.Arg2487=) n.9596G= | |
6 | g.51748296C>G | CA364421533 | PKHD1 | c.9320G>C (p.Arg3107Pro) c.9191G>C (p.Arg3064Pro) c.9182G>C (p.Arg3061Pro) c.8678G>C (p.Arg2893Pro) c.8609G>C (p.Arg2870Pro) c.3395G>C (p.Arg1132Pro) c.9245G>C (p.Arg3082Pro) c.9125G>C (p.Arg3042Pro) c.9056G>C (p.Arg3019Pro) c.7460G>C (p.Arg2487Pro) n.9596G>C | |
6 | g.51748296C>T | CA3851408 | PKHD1 | c.9320G>A (p.Arg3107Gln) c.9191G>A (p.Arg3064Gln) c.9182G>A (p.Arg3061Gln) c.8678G>A (p.Arg2893Gln) c.8609G>A (p.Arg2870Gln) c.3395G>A (p.Arg1132Gln) c.9245G>A (p.Arg3082Gln) c.9125G>A (p.Arg3042Gln) c.9056G>A (p.Arg3019Gln) c.7460G>A (p.Arg2487Gln) n.9596G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.51748297G>A | CA274366 | PKHD1 | c.9319C>T (p.Arg3107Ter) c.9190C>T (p.Arg3064Ter) c.9181C>T (p.Arg3061Ter) c.8677C>T (p.Arg2893Ter) c.8608C>T (p.Arg2870Ter) c.3394C>T (p.Arg1132Ter) c.9244C>T (p.Arg3082Ter) c.9124C>T (p.Arg3042Ter) c.9055C>T (p.Arg3019Ter) c.7459C>T (p.Arg2487Ter) n.9595C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.51748297G>C | CA364421546 | PKHD1 | c.9319C>G (p.Arg3107Gly) c.9190C>G (p.Arg3064Gly) c.9181C>G (p.Arg3061Gly) c.8677C>G (p.Arg2893Gly) c.8608C>G (p.Arg2870Gly) c.3394C>G (p.Arg1132Gly) c.9244C>G (p.Arg3082Gly) c.9124C>G (p.Arg3042Gly) c.9055C>G (p.Arg3019Gly) c.7459C>G (p.Arg2487Gly) n.9595C>G | |
6 | g.51748297G= | CA1628503007 | PKHD1 | c.9319C= (p.Arg3107=) c.9190C= (p.Arg3064=) c.9181C= (p.Arg3061=) c.8677C= (p.Arg2893=) c.8608C= (p.Arg2870=) c.3394C= (p.Arg1132=) c.9244C= (p.Arg3082=) c.9124C= (p.Arg3042=) c.9055C= (p.Arg3019=) c.7459C= (p.Arg2487=) n.9595C= | |
6 | g.51748297G>T | CA450613851 | PKHD1 | c.9319C>A (p.Arg3107=) c.9190C>A (p.Arg3064=) c.9181C>A (p.Arg3061=) c.8677C>A (p.Arg2893=) c.8608C>A (p.Arg2870=) c.3394C>A (p.Arg1132=) c.9244C>A (p.Arg3082=) c.9124C>A (p.Arg3042=) c.9055C>A (p.Arg3019=) c.7459C>A (p.Arg2487=) n.9595C>A | ClinVar |
6 | g.51748298G>A | CA450613852 | PKHD1 | c.9318C>T (p.Ile3106=) c.9189C>T (p.Ile3063=) c.9180C>T (p.Ile3060=) c.8676C>T (p.Ile2892=) c.8607C>T (p.Ile2869=) c.3393C>T (p.Ile1131=) c.9243C>T (p.Ile3081=) c.9123C>T (p.Ile3041=) c.9054C>T (p.Ile3018=) c.7458C>T (p.Ile2486=) n.9594C>T | ClinVar |
6 | g.51748298G>C | CA364421549 | PKHD1 | c.9318C>G (p.Ile3106Met) c.9189C>G (p.Ile3063Met) c.9180C>G (p.Ile3060Met) c.8676C>G (p.Ile2892Met) c.8607C>G (p.Ile2869Met) c.3393C>G (p.Ile1131Met) c.9243C>G (p.Ile3081Met) c.9123C>G (p.Ile3041Met) c.9054C>G (p.Ile3018Met) c.7458C>G (p.Ile2486Met) n.9594C>G | |
6 | g.51748298G>T | CA450613853 | PKHD1 | c.9318C>A (p.Ile3106=) c.9189C>A (p.Ile3063=) c.9180C>A (p.Ile3060=) c.8676C>A (p.Ile2892=) c.8607C>A (p.Ile2869=) c.3393C>A (p.Ile1131=) c.9243C>A (p.Ile3081=) c.9123C>A (p.Ile3041=) c.9054C>A (p.Ile3018=) c.7458C>A (p.Ile2486=) n.9594C>A | |
6 | g.51748299A>C | CA364421567 | PKHD1 | c.9317T>G (p.Ile3106Ser) c.9188T>G (p.Ile3063Ser) c.9179T>G (p.Ile3060Ser) c.8675T>G (p.Ile2892Ser) c.8606T>G (p.Ile2869Ser) c.3392T>G (p.Ile1131Ser) c.9242T>G (p.Ile3081Ser) c.9122T>G (p.Ile3041Ser) c.9053T>G (p.Ile3018Ser) c.7457T>G (p.Ile2486Ser) n.9593T>G | |
6 | g.51748299A>G | CA364421556 | PKHD1 | c.9317T>C (p.Ile3106Thr) c.9188T>C (p.Ile3063Thr) c.9179T>C (p.Ile3060Thr) c.8675T>C (p.Ile2892Thr) c.8606T>C (p.Ile2869Thr) c.3392T>C (p.Ile1131Thr) c.9242T>C (p.Ile3081Thr) c.9122T>C (p.Ile3041Thr) c.9053T>C (p.Ile3018Thr) c.7457T>C (p.Ile2486Thr) n.9593T>C | |
6 | g.51748299A>T | CA364421573 | PKHD1 | c.9317T>A (p.Ile3106Asn) c.9188T>A (p.Ile3063Asn) c.9179T>A (p.Ile3060Asn) c.8675T>A (p.Ile2892Asn) c.8606T>A (p.Ile2869Asn) c.3392T>A (p.Ile1131Asn) c.9242T>A (p.Ile3081Asn) c.9122T>A (p.Ile3041Asn) c.9053T>A (p.Ile3018Asn) c.7457T>A (p.Ile2486Asn) n.9593T>A | |
6 | g.51748300T>A | CA3851409 | PKHD1 | c.9316A>T (p.Ile3106Phe) c.9187A>T (p.Ile3063Phe) c.9178A>T (p.Ile3060Phe) c.8674A>T (p.Ile2892Phe) c.8605A>T (p.Ile2869Phe) c.3391A>T (p.Ile1131Phe) c.9241A>T (p.Ile3081Phe) c.9121A>T (p.Ile3041Phe) c.9052A>T (p.Ile3018Phe) c.7456A>T (p.Ile2486Phe) n.9592A>T | dbSNP ExAC gnomAD v2 |
6 | g.51748300T>C | CA364422251 | PKHD1 | c.9316A>G (p.Ile3106Val) c.9187A>G (p.Ile3063Val) c.9178A>G (p.Ile3060Val) c.8674A>G (p.Ile2892Val) c.8605A>G (p.Ile2869Val) c.3391A>G (p.Ile1131Val) c.9241A>G (p.Ile3081Val) c.9121A>G (p.Ile3041Val) c.9052A>G (p.Ile3018Val) c.7456A>G (p.Ile2486Val) n.9592A>G | |
6 | g.51748300T>G | CA364422252 | PKHD1 | c.9316A>C (p.Ile3106Leu) c.9187A>C (p.Ile3063Leu) c.9178A>C (p.Ile3060Leu) c.8674A>C (p.Ile2892Leu) c.8605A>C (p.Ile2869Leu) c.3391A>C (p.Ile1131Leu) c.9241A>C (p.Ile3081Leu) c.9121A>C (p.Ile3041Leu) c.9052A>C (p.Ile3018Leu) c.7456A>C (p.Ile2486Leu) n.9592A>C | |
6 | g.51748300T= | CA1628503026 | PKHD1 | c.9316A= (p.Ile3106=) c.9187A= (p.Ile3063=) c.9178A= (p.Ile3060=) c.8674A= (p.Ile2892=) c.8605A= (p.Ile2869=) c.3391A= (p.Ile1131=) c.9241A= (p.Ile3081=) c.9121A= (p.Ile3041=) c.9052A= (p.Ile3018=) c.7456A= (p.Ile2486=) n.9592A= | |
6 | g.51748301G>A | CA450613490 | PKHD1 | c.9315C>T (p.His3105=) c.9186C>T (p.His3062=) c.9177C>T (p.His3059=) c.8673C>T (p.His2891=) c.8604C>T (p.His2868=) c.3390C>T (p.His1130=) c.9240C>T (p.His3080=) c.9120C>T (p.His3040=) c.9051C>T (p.His3017=) c.7455C>T (p.His2485=) n.9591C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748301G>C | CA364422253 | PKHD1 | c.9315C>G (p.His3105Gln) c.9186C>G (p.His3062Gln) c.9177C>G (p.His3059Gln) c.8673C>G (p.His2891Gln) c.8604C>G (p.His2868Gln) c.3390C>G (p.His1130Gln) c.9240C>G (p.His3080Gln) c.9120C>G (p.His3040Gln) c.9051C>G (p.His3017Gln) c.7455C>G (p.His2485Gln) n.9591C>G | |
6 | g.51748301G= | CA1628503032 | PKHD1 | c.9315C= (p.His3105=) c.9186C= (p.His3062=) c.9177C= (p.His3059=) c.8673C= (p.His2891=) c.8604C= (p.His2868=) c.3390C= (p.His1130=) c.9240C= (p.His3080=) c.9120C= (p.His3040=) c.9051C= (p.His3017=) c.7455C= (p.His2485=) n.9591C= | |
6 | g.51748301G>T | CA364422254 | PKHD1 | c.9315C>A (p.His3105Gln) c.9186C>A (p.His3062Gln) c.9177C>A (p.His3059Gln) c.8673C>A (p.His2891Gln) c.8604C>A (p.His2868Gln) c.3390C>A (p.His1130Gln) c.9240C>A (p.His3080Gln) c.9120C>A (p.His3040Gln) c.9051C>A (p.His3017Gln) c.7455C>A (p.His2485Gln) n.9591C>A | |
6 | g.51748302T>A | CA364422255 | PKHD1 | c.9314A>T (p.His3105Leu) c.9185A>T (p.His3062Leu) c.9176A>T (p.His3059Leu) c.8672A>T (p.His2891Leu) c.8603A>T (p.His2868Leu) c.3389A>T (p.His1130Leu) c.9239A>T (p.His3080Leu) c.9119A>T (p.His3040Leu) c.9050A>T (p.His3017Leu) c.7454A>T (p.His2485Leu) n.9590A>T | |
6 | g.51748302T>C | CA364422256 | PKHD1 | c.9314A>G (p.His3105Arg) c.9185A>G (p.His3062Arg) c.9176A>G (p.His3059Arg) c.8672A>G (p.His2891Arg) c.8603A>G (p.His2868Arg) c.3389A>G (p.His1130Arg) c.9239A>G (p.His3080Arg) c.9119A>G (p.His3040Arg) c.9050A>G (p.His3017Arg) c.7454A>G (p.His2485Arg) n.9590A>G | |
6 | g.51748302T>G | CA364422257 | PKHD1 | c.9314A>C (p.His3105Pro) c.9185A>C (p.His3062Pro) c.9176A>C (p.His3059Pro) c.8672A>C (p.His2891Pro) c.8603A>C (p.His2868Pro) c.3389A>C (p.His1130Pro) c.9239A>C (p.His3080Pro) c.9119A>C (p.His3040Pro) c.9050A>C (p.His3017Pro) c.7454A>C (p.His2485Pro) n.9590A>C | dbSNP |
6 | g.51748302T= | CA1628503039 | PKHD1 | c.9314A= (p.His3105=) c.9185A= (p.His3062=) c.9176A= (p.His3059=) c.8672A= (p.His2891=) c.8603A= (p.His2868=) c.3389A= (p.His1130=) c.9239A= (p.His3080=) c.9119A= (p.His3040=) c.9050A= (p.His3017=) c.7454A= (p.His2485=) n.9590A= | |
6 | g.51748303G>A | CA364422258 | PKHD1 | c.9313C>T (p.His3105Tyr) c.9184C>T (p.His3062Tyr) c.9175C>T (p.His3059Tyr) c.8671C>T (p.His2891Tyr) c.8602C>T (p.His2868Tyr) c.3388C>T (p.His1130Tyr) c.9238C>T (p.His3080Tyr) c.9118C>T (p.His3040Tyr) c.9049C>T (p.His3017Tyr) c.7453C>T (p.His2485Tyr) n.9589C>T | |
6 | g.51748303G>C | CA364422259 | PKHD1 | c.9313C>G (p.His3105Asp) c.9184C>G (p.His3062Asp) c.9175C>G (p.His3059Asp) c.8671C>G (p.His2891Asp) c.8602C>G (p.His2868Asp) c.3388C>G (p.His1130Asp) c.9238C>G (p.His3080Asp) c.9118C>G (p.His3040Asp) c.9049C>G (p.His3017Asp) c.7453C>G (p.His2485Asp) n.9589C>G | |
6 | g.51748303G>T | CA364422260 | PKHD1 | c.9313C>A (p.His3105Asn) c.9184C>A (p.His3062Asn) c.9175C>A (p.His3059Asn) c.8671C>A (p.His2891Asn) c.8602C>A (p.His2868Asn) c.3388C>A (p.His1130Asn) c.9238C>A (p.His3080Asn) c.9118C>A (p.His3040Asn) c.9049C>A (p.His3017Asn) c.7453C>A (p.His2485Asn) n.9589C>A | |
6 | g.51748304A>C | CA364422262 | PKHD1 | c.9312T>G (p.Phe3104Leu) c.9183T>G (p.Phe3061Leu) c.9174T>G (p.Phe3058Leu) c.8670T>G (p.Phe2890Leu) c.8601T>G (p.Phe2867Leu) c.3387T>G (p.Phe1129Leu) c.9237T>G (p.Phe3079Leu) c.9117T>G (p.Phe3039Leu) c.9048T>G (p.Phe3016Leu) c.7452T>G (p.Phe2484Leu) n.9588T>G | |
6 | g.51748304A>G | CA450613493 | PKHD1 | c.9312T>C (p.Phe3104=) c.9183T>C (p.Phe3061=) c.9174T>C (p.Phe3058=) c.8670T>C (p.Phe2890=) c.8601T>C (p.Phe2867=) c.3387T>C (p.Phe1129=) c.9237T>C (p.Phe3079=) c.9117T>C (p.Phe3039=) c.9048T>C (p.Phe3016=) c.7452T>C (p.Phe2484=) n.9588T>C | |
6 | g.51748304A>T | CA364422261 | PKHD1 | c.9312T>A (p.Phe3104Leu) c.9183T>A (p.Phe3061Leu) c.9174T>A (p.Phe3058Leu) c.8670T>A (p.Phe2890Leu) c.8601T>A (p.Phe2867Leu) c.3387T>A (p.Phe1129Leu) c.9237T>A (p.Phe3079Leu) c.9117T>A (p.Phe3039Leu) c.9048T>A (p.Phe3016Leu) c.7452T>A (p.Phe2484Leu) n.9588T>A | |
6 | g.51748305A>C | CA364422263 | PKHD1 | c.9311T>G (p.Phe3104Cys) c.9182T>G (p.Phe3061Cys) c.9173T>G (p.Phe3058Cys) c.8669T>G (p.Phe2890Cys) c.8600T>G (p.Phe2867Cys) c.3386T>G (p.Phe1129Cys) c.9236T>G (p.Phe3079Cys) c.9116T>G (p.Phe3039Cys) c.9047T>G (p.Phe3016Cys) c.7451T>G (p.Phe2484Cys) n.9587T>G | |
6 | g.51748305A>G | CA364422264 | PKHD1 | c.9311T>C (p.Phe3104Ser) c.9182T>C (p.Phe3061Ser) c.9173T>C (p.Phe3058Ser) c.8669T>C (p.Phe2890Ser) c.8600T>C (p.Phe2867Ser) c.3386T>C (p.Phe1129Ser) c.9236T>C (p.Phe3079Ser) c.9116T>C (p.Phe3039Ser) c.9047T>C (p.Phe3016Ser) c.7451T>C (p.Phe2484Ser) n.9587T>C | |
6 | g.51748305A>T | CA364422265 | PKHD1 | c.9311T>A (p.Phe3104Tyr) c.9182T>A (p.Phe3061Tyr) c.9173T>A (p.Phe3058Tyr) c.8669T>A (p.Phe2890Tyr) c.8600T>A (p.Phe2867Tyr) c.3386T>A (p.Phe1129Tyr) c.9236T>A (p.Phe3079Tyr) c.9116T>A (p.Phe3039Tyr) c.9047T>A (p.Phe3016Tyr) c.7451T>A (p.Phe2484Tyr) n.9587T>A | |
6 | g.51748306A= | CA1628503044 | PKHD1 | c.9310T= (p.Phe3104=) c.9181T= (p.Phe3061=) c.9172T= (p.Phe3058=) c.8668T= (p.Phe2890=) c.8599T= (p.Phe2867=) c.3385T= (p.Phe1129=) c.9235T= (p.Phe3079=) c.9115T= (p.Phe3039=) c.9046T= (p.Phe3016=) c.7450T= (p.Phe2484=) n.9586T= | |
6 | g.51748306A>C | CA364422266 | PKHD1 | c.9310T>G (p.Phe3104Val) c.9181T>G (p.Phe3061Val) c.9172T>G (p.Phe3058Val) c.8668T>G (p.Phe2890Val) c.8599T>G (p.Phe2867Val) c.3385T>G (p.Phe1129Val) c.9235T>G (p.Phe3079Val) c.9115T>G (p.Phe3039Val) c.9046T>G (p.Phe3016Val) c.7450T>G (p.Phe2484Val) n.9586T>G | |
6 | g.51748306A>G | CA3851410 | PKHD1 | c.9310T>C (p.Phe3104Leu) c.9181T>C (p.Phe3061Leu) c.9172T>C (p.Phe3058Leu) c.8668T>C (p.Phe2890Leu) c.8599T>C (p.Phe2867Leu) c.3385T>C (p.Phe1129Leu) c.9235T>C (p.Phe3079Leu) c.9115T>C (p.Phe3039Leu) c.9046T>C (p.Phe3016Leu) c.7450T>C (p.Phe2484Leu) n.9586T>C | dbSNP ExAC gnomAD v4 |
6 | g.51748306A>T | CA364422267 | PKHD1 | c.9310T>A (p.Phe3104Ile) c.9181T>A (p.Phe3061Ile) c.9172T>A (p.Phe3058Ile) c.8668T>A (p.Phe2890Ile) c.8599T>A (p.Phe2867Ile) c.3385T>A (p.Phe1129Ile) c.9235T>A (p.Phe3079Ile) c.9115T>A (p.Phe3039Ile) c.9046T>A (p.Phe3016Ile) c.7450T>A (p.Phe2484Ile) n.9586T>A | |
6 | g.51748307G>A | CA450613498 | PKHD1 | c.9309C>T (p.Gly3103=) c.9180C>T (p.Gly3060=) c.9171C>T (p.Gly3057=) c.8667C>T (p.Gly2889=) c.8598C>T (p.Gly2866=) c.3384C>T (p.Gly1128=) c.9234C>T (p.Gly3078=) c.9114C>T (p.Gly3038=) c.9045C>T (p.Gly3015=) c.7449C>T (p.Gly2483=) n.9585C>T | gnomAD v4 |
6 | g.51748307G>C | CA450613499 | PKHD1 | c.9309C>G (p.Gly3103=) c.9180C>G (p.Gly3060=) c.9171C>G (p.Gly3057=) c.8667C>G (p.Gly2889=) c.8598C>G (p.Gly2866=) c.3384C>G (p.Gly1128=) c.9234C>G (p.Gly3078=) c.9114C>G (p.Gly3038=) c.9045C>G (p.Gly3015=) c.7449C>G (p.Gly2483=) n.9585C>G | |
6 | g.51748307G>T | CA450613500 | PKHD1 | c.9309C>A (p.Gly3103=) c.9180C>A (p.Gly3060=) c.9171C>A (p.Gly3057=) c.8667C>A (p.Gly2889=) c.8598C>A (p.Gly2866=) c.3384C>A (p.Gly1128=) c.9234C>A (p.Gly3078=) c.9114C>A (p.Gly3038=) c.9045C>A (p.Gly3015=) c.7449C>A (p.Gly2483=) n.9585C>A | |
6 | g.51748308C>A | CA364422270 | PKHD1 | c.9308G>T (p.Gly3103Val) c.9179G>T (p.Gly3060Val) c.9170G>T (p.Gly3057Val) c.8666G>T (p.Gly2889Val) c.8597G>T (p.Gly2866Val) c.3383G>T (p.Gly1128Val) c.9233G>T (p.Gly3078Val) c.9113G>T (p.Gly3038Val) c.9044G>T (p.Gly3015Val) c.7448G>T (p.Gly2483Val) n.9584G>T | |
6 | g.51748308C= | CA1628503050 | PKHD1 | c.9308G= (p.Gly3103=) c.9179G= (p.Gly3060=) c.9170G= (p.Gly3057=) c.8666G= (p.Gly2889=) c.8597G= (p.Gly2866=) c.3383G= (p.Gly1128=) c.9233G= (p.Gly3078=) c.9113G= (p.Gly3038=) c.9044G= (p.Gly3015=) c.7448G= (p.Gly2483=) n.9584G= | |
6 | g.51748308C>G | CA364422272 | PKHD1 | c.9308G>C (p.Gly3103Ala) c.9179G>C (p.Gly3060Ala) c.9170G>C (p.Gly3057Ala) c.8666G>C (p.Gly2889Ala) c.8597G>C (p.Gly2866Ala) c.3383G>C (p.Gly1128Ala) c.9233G>C (p.Gly3078Ala) c.9113G>C (p.Gly3038Ala) c.9044G>C (p.Gly3015Ala) c.7448G>C (p.Gly2483Ala) n.9584G>C | |
6 | g.51748308C>T | CA3851411 | PKHD1 | c.9308G>A (p.Gly3103Asp) c.9179G>A (p.Gly3060Asp) c.9170G>A (p.Gly3057Asp) c.8666G>A (p.Gly2889Asp) c.8597G>A (p.Gly2866Asp) c.3383G>A (p.Gly1128Asp) c.9233G>A (p.Gly3078Asp) c.9113G>A (p.Gly3038Asp) c.9044G>A (p.Gly3015Asp) c.7448G>A (p.Gly2483Asp) n.9584G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748309del | CA2679078635 | PKHD1 | c.9308del (p.Gly3103AlafsTer?) c.9179del (p.Gly3060AlafsTer?) c.9170del (p.Gly3057AlafsTer?) c.8666del (p.Gly2889AlafsTer?) c.8597del (p.Gly2866AlafsTer?) c.3383del (p.Gly1128AlafsTer?) c.9233del (p.Gly3078AlafsTer?) c.9113del (p.Gly3038AlafsTer?) c.9044del (p.Gly3015AlafsTer?) c.7448del (p.Gly2483AlafsTer?) n.9584del | gnomAD v4 |
6 | g.51748309C>A | CA364422275 | PKHD1 | c.9307G>T (p.Gly3103Cys) c.9178G>T (p.Gly3060Cys) c.9169G>T (p.Gly3057Cys) c.8665G>T (p.Gly2889Cys) c.8596G>T (p.Gly2866Cys) c.3382G>T (p.Gly1128Cys) c.9232G>T (p.Gly3078Cys) c.9112G>T (p.Gly3038Cys) c.9043G>T (p.Gly3015Cys) c.7447G>T (p.Gly2483Cys) n.9583G>T | |
6 | g.51748309C= | CA1628503052 | PKHD1 | c.9307G= (p.Gly3103=) c.9178G= (p.Gly3060=) c.9169G= (p.Gly3057=) c.8665G= (p.Gly2889=) c.8596G= (p.Gly2866=) c.3382G= (p.Gly1128=) c.9232G= (p.Gly3078=) c.9112G= (p.Gly3038=) c.9043G= (p.Gly3015=) c.7447G= (p.Gly2483=) n.9583G= | |
6 | g.51748309C>G | CA3851412 | PKHD1 | c.9307G>C (p.Gly3103Arg) c.9178G>C (p.Gly3060Arg) c.9169G>C (p.Gly3057Arg) c.8665G>C (p.Gly2889Arg) c.8596G>C (p.Gly2866Arg) c.3382G>C (p.Gly1128Arg) c.9232G>C (p.Gly3078Arg) c.9112G>C (p.Gly3038Arg) c.9043G>C (p.Gly3015Arg) c.7447G>C (p.Gly2483Arg) n.9583G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748309C>T | CA364422279 | PKHD1 | c.9307G>A (p.Gly3103Ser) c.9178G>A (p.Gly3060Ser) c.9169G>A (p.Gly3057Ser) c.8665G>A (p.Gly2889Ser) c.8596G>A (p.Gly2866Ser) c.3382G>A (p.Gly1128Ser) c.9232G>A (p.Gly3078Ser) c.9112G>A (p.Gly3038Ser) c.9043G>A (p.Gly3015Ser) c.7447G>A (p.Gly2483Ser) n.9583G>A | |
6 | g.51748310A>C | CA450613504 | PKHD1 | c.9306T>G (p.Leu3102=) c.9177T>G (p.Leu3059=) c.9168T>G (p.Leu3056=) c.8664T>G (p.Leu2888=) c.8595T>G (p.Leu2865=) c.3381T>G (p.Leu1127=) c.9231T>G (p.Leu3077=) c.9111T>G (p.Leu3037=) c.9042T>G (p.Leu3014=) c.7446T>G (p.Leu2482=) n.9582T>G | |
6 | g.51748310A>G | CA450613505 | PKHD1 | c.9306T>C (p.Leu3102=) c.9177T>C (p.Leu3059=) c.9168T>C (p.Leu3056=) c.8664T>C (p.Leu2888=) c.8595T>C (p.Leu2865=) c.3381T>C (p.Leu1127=) c.9231T>C (p.Leu3077=) c.9111T>C (p.Leu3037=) c.9042T>C (p.Leu3014=) c.7446T>C (p.Leu2482=) n.9582T>C | |
6 | g.51748310A>T | CA450613506 | PKHD1 | c.9306T>A (p.Leu3102=) c.9177T>A (p.Leu3059=) c.9168T>A (p.Leu3056=) c.8664T>A (p.Leu2888=) c.8595T>A (p.Leu2865=) c.3381T>A (p.Leu1127=) c.9231T>A (p.Leu3077=) c.9111T>A (p.Leu3037=) c.9042T>A (p.Leu3014=) c.7446T>A (p.Leu2482=) n.9582T>A | |
6 | g.51748311A= | CA1628503058 | PKHD1 | c.9305T= (p.Leu3102=) c.9176T= (p.Leu3059=) c.9167T= (p.Leu3056=) c.8663T= (p.Leu2888=) c.8594T= (p.Leu2865=) c.3380T= (p.Leu1127=) c.9230T= (p.Leu3077=) c.9110T= (p.Leu3037=) c.9041T= (p.Leu3014=) c.7445T= (p.Leu2482=) n.9581T= | |
6 | g.51748311A>C | CA364422284 | PKHD1 | c.9305T>G (p.Leu3102Arg) c.9176T>G (p.Leu3059Arg) c.9167T>G (p.Leu3056Arg) c.8663T>G (p.Leu2888Arg) c.8594T>G (p.Leu2865Arg) c.3380T>G (p.Leu1127Arg) c.9230T>G (p.Leu3077Arg) c.9110T>G (p.Leu3037Arg) c.9041T>G (p.Leu3014Arg) c.7445T>G (p.Leu2482Arg) n.9581T>G | |
6 | g.51748311A>G | CA364422287 | PKHD1 | c.9305T>C (p.Leu3102Pro) c.9176T>C (p.Leu3059Pro) c.9167T>C (p.Leu3056Pro) c.8663T>C (p.Leu2888Pro) c.8594T>C (p.Leu2865Pro) c.3380T>C (p.Leu1127Pro) c.9230T>C (p.Leu3077Pro) c.9110T>C (p.Leu3037Pro) c.9041T>C (p.Leu3014Pro) c.7445T>C (p.Leu2482Pro) n.9581T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748311A>T | CA364422281 | PKHD1 | c.9305T>A (p.Leu3102His) c.9176T>A (p.Leu3059His) c.9167T>A (p.Leu3056His) c.8663T>A (p.Leu2888His) c.8594T>A (p.Leu2865His) c.3380T>A (p.Leu1127His) c.9230T>A (p.Leu3077His) c.9110T>A (p.Leu3037His) c.9041T>A (p.Leu3014His) c.7445T>A (p.Leu2482His) n.9581T>A | |
6 | g.51748312G>A | CA138896421 | PKHD1 | c.9304C>T (p.Leu3102Phe) c.9175C>T (p.Leu3059Phe) c.9166C>T (p.Leu3056Phe) c.8662C>T (p.Leu2888Phe) c.8593C>T (p.Leu2865Phe) c.3379C>T (p.Leu1127Phe) c.9229C>T (p.Leu3077Phe) c.9109C>T (p.Leu3037Phe) c.9040C>T (p.Leu3014Phe) c.7444C>T (p.Leu2482Phe) n.9580C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748312G>C | CA364422290 | PKHD1 | c.9304C>G (p.Leu3102Val) c.9175C>G (p.Leu3059Val) c.9166C>G (p.Leu3056Val) c.8662C>G (p.Leu2888Val) c.8593C>G (p.Leu2865Val) c.3379C>G (p.Leu1127Val) c.9229C>G (p.Leu3077Val) c.9109C>G (p.Leu3037Val) c.9040C>G (p.Leu3014Val) c.7444C>G (p.Leu2482Val) n.9580C>G | |
6 | g.51748312G= | CA1628503060 | PKHD1 | c.9304C= (p.Leu3102=) c.9175C= (p.Leu3059=) c.9166C= (p.Leu3056=) c.8662C= (p.Leu2888=) c.8593C= (p.Leu2865=) c.3379C= (p.Leu1127=) c.9229C= (p.Leu3077=) c.9109C= (p.Leu3037=) c.9040C= (p.Leu3014=) c.7444C= (p.Leu2482=) n.9580C= | |
6 | g.51748312G>T | CA364422292 | PKHD1 | c.9304C>A (p.Leu3102Ile) c.9175C>A (p.Leu3059Ile) c.9166C>A (p.Leu3056Ile) c.8662C>A (p.Leu2888Ile) c.8593C>A (p.Leu2865Ile) c.3379C>A (p.Leu1127Ile) c.9229C>A (p.Leu3077Ile) c.9109C>A (p.Leu3037Ile) c.9040C>A (p.Leu3014Ile) c.7444C>A (p.Leu2482Ile) n.9580C>A | |
6 | g.51748313T>A | CA364422296 | PKHD1 | c.9303A>T (p.Arg3101Ser) c.9174A>T (p.Arg3058Ser) c.9165A>T (p.Arg3055Ser) c.8661A>T (p.Arg2887Ser) c.8592A>T (p.Arg2864Ser) c.3378A>T (p.Arg1126Ser) c.9228A>T (p.Arg3076Ser) c.9108A>T (p.Arg3036Ser) c.9039A>T (p.Arg3013Ser) c.7443A>T (p.Arg2481Ser) n.9579A>T | |
6 | g.51748313T>C | CA450613510 | PKHD1 | c.9303A>G (p.Arg3101=) c.9174A>G (p.Arg3058=) c.9165A>G (p.Arg3055=) c.8661A>G (p.Arg2887=) c.8592A>G (p.Arg2864=) c.3378A>G (p.Arg1126=) c.9228A>G (p.Arg3076=) c.9108A>G (p.Arg3036=) c.9039A>G (p.Arg3013=) c.7443A>G (p.Arg2481=) n.9579A>G | ClinVar dbSNP gnomAD v4 |
6 | g.51748313T>G | CA364422298 | PKHD1 | c.9303A>C (p.Arg3101Ser) c.9174A>C (p.Arg3058Ser) c.9165A>C (p.Arg3055Ser) c.8661A>C (p.Arg2887Ser) c.8592A>C (p.Arg2864Ser) c.3378A>C (p.Arg1126Ser) c.9228A>C (p.Arg3076Ser) c.9108A>C (p.Arg3036Ser) c.9039A>C (p.Arg3013Ser) c.7443A>C (p.Arg2481Ser) n.9579A>C | |
6 | g.51748313T= | CA1628503068 | PKHD1 | c.9303A= (p.Arg3101=) c.9174A= (p.Arg3058=) c.9165A= (p.Arg3055=) c.8661A= (p.Arg2887=) c.8592A= (p.Arg2864=) c.3378A= (p.Arg1126=) c.9228A= (p.Arg3076=) c.9108A= (p.Arg3036=) c.9039A= (p.Arg3013=) c.7443A= (p.Arg2481=) n.9579A= | |
6 | g.51748318_51748319del | CA2580617249 | PKHD1 | c.9302_9303del (p.Arg3101ThrfsTer14) c.9173_9174del (p.Arg3058ThrfsTer14) c.9164_9165del (p.Arg3055ThrfsTer14) c.8660_8661del (p.Arg2887ThrfsTer14) c.8591_8592del (p.Arg2864ThrfsTer14) c.3377_3378del (p.Arg1126ThrfsTer14) c.9227_9228del (p.Arg3076ThrfsTer14) c.9107_9108del (p.Arg3036ThrfsTer14) c.9038_9039del (p.Arg3013ThrfsTer14) c.7442_7443del (p.Arg2481ThrfsTer14) n.9578_9579del | ClinVar |
6 | g.51748314C>A | CA364422301 | PKHD1 | c.9302G>T (p.Arg3101Ile) c.9173G>T (p.Arg3058Ile) c.9164G>T (p.Arg3055Ile) c.8660G>T (p.Arg2887Ile) c.8591G>T (p.Arg2864Ile) c.3377G>T (p.Arg1126Ile) c.9227G>T (p.Arg3076Ile) c.9107G>T (p.Arg3036Ile) c.9038G>T (p.Arg3013Ile) c.7442G>T (p.Arg2481Ile) n.9578G>T | |
6 | g.51748314C>G | CA364422303 | PKHD1 | c.9302G>C (p.Arg3101Thr) c.9173G>C (p.Arg3058Thr) c.9164G>C (p.Arg3055Thr) c.8660G>C (p.Arg2887Thr) c.8591G>C (p.Arg2864Thr) c.3377G>C (p.Arg1126Thr) c.9227G>C (p.Arg3076Thr) c.9107G>C (p.Arg3036Thr) c.9038G>C (p.Arg3013Thr) c.7442G>C (p.Arg2481Thr) n.9578G>C | |
6 | g.51748314C>T | CA364422305 | PKHD1 | c.9302G>A (p.Arg3101Lys) c.9173G>A (p.Arg3058Lys) c.9164G>A (p.Arg3055Lys) c.8660G>A (p.Arg2887Lys) c.8591G>A (p.Arg2864Lys) c.3377G>A (p.Arg1126Lys) c.9227G>A (p.Arg3076Lys) c.9107G>A (p.Arg3036Lys) c.9038G>A (p.Arg3013Lys) c.7442G>A (p.Arg2481Lys) n.9578G>A | |
6 | g.51748315T>A | CA364422308 | PKHD1 | c.9301A>T (p.Arg3101Ter) c.9172A>T (p.Arg3058Ter) c.9163A>T (p.Arg3055Ter) c.8659A>T (p.Arg2887Ter) c.8590A>T (p.Arg2864Ter) c.3376A>T (p.Arg1126Ter) c.9226A>T (p.Arg3076Ter) c.9106A>T (p.Arg3036Ter) c.9037A>T (p.Arg3013Ter) c.7441A>T (p.Arg2481Ter) n.9577A>T | |
6 | g.51748315T>C | CA3851413 | PKHD1 | c.9301A>G (p.Arg3101Gly) c.9172A>G (p.Arg3058Gly) c.9163A>G (p.Arg3055Gly) c.8659A>G (p.Arg2887Gly) c.8590A>G (p.Arg2864Gly) c.3376A>G (p.Arg1126Gly) c.9226A>G (p.Arg3076Gly) c.9106A>G (p.Arg3036Gly) c.9037A>G (p.Arg3013Gly) c.7441A>G (p.Arg2481Gly) n.9577A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.51748315T>G | CA450613513 | PKHD1 | c.9301A>C (p.Arg3101=) c.9172A>C (p.Arg3058=) c.9163A>C (p.Arg3055=) c.8659A>C (p.Arg2887=) c.8590A>C (p.Arg2864=) c.3376A>C (p.Arg1126=) c.9226A>C (p.Arg3076=) c.9106A>C (p.Arg3036=) c.9037A>C (p.Arg3013=) c.7441A>C (p.Arg2481=) n.9577A>C | |
6 | g.51748315T= | CA1628503075 | PKHD1 | c.9301A= (p.Arg3101=) c.9172A= (p.Arg3058=) c.9163A= (p.Arg3055=) c.8659A= (p.Arg2887=) c.8590A= (p.Arg2864=) c.3376A= (p.Arg1126=) c.9226A= (p.Arg3076=) c.9106A= (p.Arg3036=) c.9037A= (p.Arg3013=) c.7441A= (p.Arg2481=) n.9577A= | |
6 | g.51748316C>A | CA364422313 | PKHD1 | c.9300G>T (p.Glu3100Asp) c.9171G>T (p.Glu3057Asp) c.9162G>T (p.Glu3054Asp) c.8658G>T (p.Glu2886Asp) c.8589G>T (p.Glu2863Asp) c.3375G>T (p.Glu1125Asp) c.9225G>T (p.Glu3075Asp) c.9105G>T (p.Glu3035Asp) c.9036G>T (p.Glu3012Asp) c.7440G>T (p.Glu2480Asp) n.9576G>T | |
6 | g.51748316C= | CA1628503079 | PKHD1 | c.9300G= (p.Glu3100=) c.9171G= (p.Glu3057=) c.9162G= (p.Glu3054=) c.8658G= (p.Glu2886=) c.8589G= (p.Glu2863=) c.3375G= (p.Glu1125=) c.9225G= (p.Glu3075=) c.9105G= (p.Glu3035=) c.9036G= (p.Glu3012=) c.7440G= (p.Glu2480=) n.9576G= | |
6 | g.51748316C>G | CA364422315 | PKHD1 | c.9300G>C (p.Glu3100Asp) c.9171G>C (p.Glu3057Asp) c.9162G>C (p.Glu3054Asp) c.8658G>C (p.Glu2886Asp) c.8589G>C (p.Glu2863Asp) c.3375G>C (p.Glu1125Asp) c.9225G>C (p.Glu3075Asp) c.9105G>C (p.Glu3035Asp) c.9036G>C (p.Glu3012Asp) c.7440G>C (p.Glu2480Asp) n.9576G>C | |
6 | g.51748316C>T | CA450613515 | PKHD1 | c.9300G>A (p.Glu3100=) c.9171G>A (p.Glu3057=) c.9162G>A (p.Glu3054=) c.8658G>A (p.Glu2886=) c.8589G>A (p.Glu2863=) c.3375G>A (p.Glu1125=) c.9225G>A (p.Glu3075=) c.9105G>A (p.Glu3035=) c.9036G>A (p.Glu3012=) c.7440G>A (p.Glu2480=) n.9576G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748317T>A | CA364422321 | PKHD1 | c.9299A>T (p.Glu3100Val) c.9170A>T (p.Glu3057Val) c.9161A>T (p.Glu3054Val) c.8657A>T (p.Glu2886Val) c.8588A>T (p.Glu2863Val) c.3374A>T (p.Glu1125Val) c.9224A>T (p.Glu3075Val) c.9104A>T (p.Glu3035Val) c.9035A>T (p.Glu3012Val) c.7439A>T (p.Glu2480Val) n.9575A>T | |
6 | g.51748317T>C | CA246496 | PKHD1 | c.9299A>G (p.Glu3100Gly) c.9170A>G (p.Glu3057Gly) c.9161A>G (p.Glu3054Gly) c.8657A>G (p.Glu2886Gly) c.8588A>G (p.Glu2863Gly) c.3374A>G (p.Glu1125Gly) c.9224A>G (p.Glu3075Gly) c.9104A>G (p.Glu3035Gly) c.9035A>G (p.Glu3012Gly) c.7439A>G (p.Glu2480Gly) n.9575A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748317T>G | CA364422318 | PKHD1 | c.9299A>C (p.Glu3100Ala) c.9170A>C (p.Glu3057Ala) c.9161A>C (p.Glu3054Ala) c.8657A>C (p.Glu2886Ala) c.8588A>C (p.Glu2863Ala) c.3374A>C (p.Glu1125Ala) c.9224A>C (p.Glu3075Ala) c.9104A>C (p.Glu3035Ala) c.9035A>C (p.Glu3012Ala) c.7439A>C (p.Glu2480Ala) n.9575A>C | |
6 | g.51748317T= | CA1628503085 | PKHD1 | c.9299A= (p.Glu3100=) c.9170A= (p.Glu3057=) c.9161A= (p.Glu3054=) c.8657A= (p.Glu2886=) c.8588A= (p.Glu2863=) c.3374A= (p.Glu1125=) c.9224A= (p.Glu3075=) c.9104A= (p.Glu3035=) c.9035A= (p.Glu3012=) c.7439A= (p.Glu2480=) n.9575A= | |
6 | g.51748318C>A | CA364422334 | PKHD1 | c.9298G>T (p.Glu3100Ter) c.9169G>T (p.Glu3057Ter) c.9160G>T (p.Glu3054Ter) c.8656G>T (p.Glu2886Ter) c.8587G>T (p.Glu2863Ter) c.3373G>T (p.Glu1125Ter) c.9223G>T (p.Glu3075Ter) c.9103G>T (p.Glu3035Ter) c.9034G>T (p.Glu3012Ter) c.7438G>T (p.Glu2480Ter) n.9574G>T | |
6 | g.51748318C>G | CA364422336 | PKHD1 | c.9298G>C (p.Glu3100Gln) c.9169G>C (p.Glu3057Gln) c.9160G>C (p.Glu3054Gln) c.8656G>C (p.Glu2886Gln) c.8587G>C (p.Glu2863Gln) c.3373G>C (p.Glu1125Gln) c.9223G>C (p.Glu3075Gln) c.9103G>C (p.Glu3035Gln) c.9034G>C (p.Glu3012Gln) c.7438G>C (p.Glu2480Gln) n.9574G>C | |
6 | g.51748318C>T | CA364422338 | PKHD1 | c.9298G>A (p.Glu3100Lys) c.9169G>A (p.Glu3057Lys) c.9160G>A (p.Glu3054Lys) c.8656G>A (p.Glu2886Lys) c.8587G>A (p.Glu2863Lys) c.3373G>A (p.Glu1125Lys) c.9223G>A (p.Glu3075Lys) c.9103G>A (p.Glu3035Lys) c.9034G>A (p.Glu3012Lys) c.7438G>A (p.Glu2480Lys) n.9574G>A | |
6 | g.51748319T>A | CA450613518 | PKHD1 | c.9297A>T (p.Ser3099=) c.9168A>T (p.Ser3056=) c.9159A>T (p.Ser3053=) c.8655A>T (p.Ser2885=) c.8586A>T (p.Ser2862=) c.3372A>T (p.Ser1124=) c.9222A>T (p.Ser3074=) c.9102A>T (p.Ser3034=) c.9033A>T (p.Ser3011=) c.7437A>T (p.Ser2479=) n.9573A>T | |
6 | g.51748319T>C | CA450613519 | PKHD1 | c.9297A>G (p.Ser3099=) c.9168A>G (p.Ser3056=) c.9159A>G (p.Ser3053=) c.8655A>G (p.Ser2885=) c.8586A>G (p.Ser2862=) c.3372A>G (p.Ser1124=) c.9222A>G (p.Ser3074=) c.9102A>G (p.Ser3034=) c.9033A>G (p.Ser3011=) c.7437A>G (p.Ser2479=) n.9573A>G | |
6 | g.51748319T>G | CA450613520 | PKHD1 | c.9297A>C (p.Ser3099=) c.9168A>C (p.Ser3056=) c.9159A>C (p.Ser3053=) c.8655A>C (p.Ser2885=) c.8586A>C (p.Ser2862=) c.3372A>C (p.Ser1124=) c.9222A>C (p.Ser3074=) c.9102A>C (p.Ser3034=) c.9033A>C (p.Ser3011=) c.7437A>C (p.Ser2479=) n.9573A>C | |
6 | g.51748320G>A | CA364422341 | PKHD1 | c.9296C>T (p.Ser3099Leu) c.9167C>T (p.Ser3056Leu) c.9158C>T (p.Ser3053Leu) c.8654C>T (p.Ser2885Leu) c.8585C>T (p.Ser2862Leu) c.3371C>T (p.Ser1124Leu) c.9221C>T (p.Ser3074Leu) c.9101C>T (p.Ser3034Leu) c.9032C>T (p.Ser3011Leu) c.7436C>T (p.Ser2479Leu) n.9572C>T | gnomAD v4 |
6 | g.51748320G>C | CA364422343 | PKHD1 | c.9296C>G (p.Ser3099Ter) c.9167C>G (p.Ser3056Ter) c.9158C>G (p.Ser3053Ter) c.8654C>G (p.Ser2885Ter) c.8585C>G (p.Ser2862Ter) c.3371C>G (p.Ser1124Ter) c.9221C>G (p.Ser3074Ter) c.9101C>G (p.Ser3034Ter) c.9032C>G (p.Ser3011Ter) c.7436C>G (p.Ser2479Ter) n.9572C>G | |
6 | g.51748320G= | CA1628503091 | PKHD1 | c.9296C= (p.Ser3099=) c.9167C= (p.Ser3056=) c.9158C= (p.Ser3053=) c.8654C= (p.Ser2885=) c.8585C= (p.Ser2862=) c.3371C= (p.Ser1124=) c.9221C= (p.Ser3074=) c.9101C= (p.Ser3034=) c.9032C= (p.Ser3011=) c.7436C= (p.Ser2479=) n.9572C= | |
6 | g.51748320G>T | CA3851414 | PKHD1 | c.9296C>A (p.Ser3099Ter) c.9167C>A (p.Ser3056Ter) c.9158C>A (p.Ser3053Ter) c.8654C>A (p.Ser2885Ter) c.8585C>A (p.Ser2862Ter) c.3371C>A (p.Ser1124Ter) c.9221C>A (p.Ser3074Ter) c.9101C>A (p.Ser3034Ter) c.9032C>A (p.Ser3011Ter) c.7436C>A (p.Ser2479Ter) n.9572C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748321A>C | CA364422346 | PKHD1 | c.9295T>G (p.Ser3099Ala) c.9166T>G (p.Ser3056Ala) c.9157T>G (p.Ser3053Ala) c.8653T>G (p.Ser2885Ala) c.8584T>G (p.Ser2862Ala) c.3370T>G (p.Ser1124Ala) c.9220T>G (p.Ser3074Ala) c.9100T>G (p.Ser3034Ala) c.9031T>G (p.Ser3011Ala) c.7435T>G (p.Ser2479Ala) n.9571T>G | |
6 | g.51748321A>G | CA364422351 | PKHD1 | c.9295T>C (p.Ser3099Pro) c.9166T>C (p.Ser3056Pro) c.9157T>C (p.Ser3053Pro) c.8653T>C (p.Ser2885Pro) c.8584T>C (p.Ser2862Pro) c.3370T>C (p.Ser1124Pro) c.9220T>C (p.Ser3074Pro) c.9100T>C (p.Ser3034Pro) c.9031T>C (p.Ser3011Pro) c.7435T>C (p.Ser2479Pro) n.9571T>C | gnomAD v4 |
6 | g.51748321A>T | CA364422348 | PKHD1 | c.9295T>A (p.Ser3099Thr) c.9166T>A (p.Ser3056Thr) c.9157T>A (p.Ser3053Thr) c.8653T>A (p.Ser2885Thr) c.8584T>A (p.Ser2862Thr) c.3370T>A (p.Ser1124Thr) c.9220T>A (p.Ser3074Thr) c.9100T>A (p.Ser3034Thr) c.9031T>A (p.Ser3011Thr) c.7435T>A (p.Ser2479Thr) n.9571T>A |