| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51747926_51747927delinsAT | CA1628502098 | PKHD1 | c.9689_9690delinsAT (p.Asp3230=) c.9560_9561delinsAT (p.Asp3187=) c.9551_9552delinsAT (p.Asp3184=) c.9047_9048delinsAT (p.Asp3016=) c.8978_8979delinsAT (p.Asp2993=) c.3764_3765delinsAT (p.Asp1255=) c.9614_9615delinsAT (p.Asp3205=) c.9494_9495delinsAT (p.Asp3165=) c.9425_9426delinsAT (p.Asp3142=) c.7829_7830delinsAT (p.Asp2610=) n.9965_9966delinsAT | |
| 6 | g.51747927del | CA224113 | PKHD1 | c.9689del (p.Asp3230ValfsTer?) c.9560del (p.Asp3187ValfsTer?) c.9551del (p.Asp3184ValfsTer?) c.9047del (p.Asp3016ValfsTer?) c.8978del (p.Asp2993ValfsTer?) c.3764del (p.Asp1255ValfsTer?) c.9614del (p.Asp3205ValfsTer?) c.9494del (p.Asp3165ValfsTer?) c.9425del (p.Asp3142ValfsTer?) c.7829del (p.Asp2610ValfsTer?) n.9965del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51747927T>A | CA364420526 | PKHD1 | c.9689A>T (p.Asp3230Val) c.9560A>T (p.Asp3187Val) c.9551A>T (p.Asp3184Val) c.9047A>T (p.Asp3016Val) c.8978A>T (p.Asp2993Val) c.3764A>T (p.Asp1255Val) c.9614A>T (p.Asp3205Val) c.9494A>T (p.Asp3165Val) c.9425A>T (p.Asp3142Val) c.7829A>T (p.Asp2610Val) n.9965A>T | gnomAD v4 |
| 6 | g.51747927T>C | CA364420527 | PKHD1 | c.9689A>G (p.Asp3230Gly) c.9560A>G (p.Asp3187Gly) c.9551A>G (p.Asp3184Gly) c.9047A>G (p.Asp3016Gly) c.8978A>G (p.Asp2993Gly) c.3764A>G (p.Asp1255Gly) c.9614A>G (p.Asp3205Gly) c.9494A>G (p.Asp3165Gly) c.9425A>G (p.Asp3142Gly) c.7829A>G (p.Asp2610Gly) n.9965A>G | gnomAD v4 |
| 6 | g.51747927T>G | CA364420528 | PKHD1 | c.9689A>C (p.Asp3230Ala) c.9560A>C (p.Asp3187Ala) c.9551A>C (p.Asp3184Ala) c.9047A>C (p.Asp3016Ala) c.8978A>C (p.Asp2993Ala) c.3764A>C (p.Asp1255Ala) c.9614A>C (p.Asp3205Ala) c.9494A>C (p.Asp3165Ala) c.9425A>C (p.Asp3142Ala) c.7829A>C (p.Asp2610Ala) n.9965A>C | |
| 6 | g.51747928C>A | CA364420529 | PKHD1 | c.9688G>T (p.Asp3230Tyr) c.9559G>T (p.Asp3187Tyr) c.9550G>T (p.Asp3184Tyr) c.9046G>T (p.Asp3016Tyr) c.8977G>T (p.Asp2993Tyr) c.3763G>T (p.Asp1255Tyr) c.9613G>T (p.Asp3205Tyr) c.9493G>T (p.Asp3165Tyr) c.9424G>T (p.Asp3142Tyr) c.7828G>T (p.Asp2610Tyr) n.9964G>T | |
| 6 | g.51747928C>G | CA364420530 | PKHD1 | c.9688G>C (p.Asp3230His) c.9559G>C (p.Asp3187His) c.9550G>C (p.Asp3184His) c.9046G>C (p.Asp3016His) c.8977G>C (p.Asp2993His) c.3763G>C (p.Asp1255His) c.9613G>C (p.Asp3205His) c.9493G>C (p.Asp3165His) c.9424G>C (p.Asp3142His) c.7828G>C (p.Asp2610His) n.9964G>C | COSMIC COSMIC |
| 6 | g.51747928C>T | CA364420531 | PKHD1 | c.9688G>A (p.Asp3230Asn) c.9559G>A (p.Asp3187Asn) c.9550G>A (p.Asp3184Asn) c.9046G>A (p.Asp3016Asn) c.8977G>A (p.Asp2993Asn) c.3763G>A (p.Asp1255Asn) c.9613G>A (p.Asp3205Asn) c.9493G>A (p.Asp3165Asn) c.9424G>A (p.Asp3142Asn) c.7828G>A (p.Asp2610Asn) n.9964G>A | COSMIC COSMIC |
| 6 | g.51747929T>A | CA450613585 | PKHD1 | c.9687A>T (p.Thr3229=) c.9558A>T (p.Thr3186=) c.9549A>T (p.Thr3183=) c.9045A>T (p.Thr3015=) c.8976A>T (p.Thr2992=) c.3762A>T (p.Thr1254=) c.9612A>T (p.Thr3204=) c.9492A>T (p.Thr3164=) c.9423A>T (p.Thr3141=) c.7827A>T (p.Thr2609=) n.9963A>T | |
| 6 | g.51747929T>C | CA450613587 | PKHD1 | c.9687A>G (p.Thr3229=) c.9558A>G (p.Thr3186=) c.9549A>G (p.Thr3183=) c.9045A>G (p.Thr3015=) c.8976A>G (p.Thr2992=) c.3762A>G (p.Thr1254=) c.9612A>G (p.Thr3204=) c.9492A>G (p.Thr3164=) c.9423A>G (p.Thr3141=) c.7827A>G (p.Thr2609=) n.9963A>G | |
| 6 | g.51747929T>G | CA450613588 | PKHD1 | c.9687A>C (p.Thr3229=) c.9558A>C (p.Thr3186=) c.9549A>C (p.Thr3183=) c.9045A>C (p.Thr3015=) c.8976A>C (p.Thr2992=) c.3762A>C (p.Thr1254=) c.9612A>C (p.Thr3204=) c.9492A>C (p.Thr3164=) c.9423A>C (p.Thr3141=) c.7827A>C (p.Thr2609=) n.9963A>C | |
| 6 | g.51747930G>A | CA364420532 | PKHD1 | c.9686C>T (p.Thr3229Ile) c.9557C>T (p.Thr3186Ile) c.9548C>T (p.Thr3183Ile) c.9044C>T (p.Thr3015Ile) c.8975C>T (p.Thr2992Ile) c.3761C>T (p.Thr1254Ile) c.9611C>T (p.Thr3204Ile) c.9491C>T (p.Thr3164Ile) c.9422C>T (p.Thr3141Ile) c.7826C>T (p.Thr2609Ile) n.9962C>T | |
| 6 | g.51747930G>C | CA364420533 | PKHD1 | c.9686C>G (p.Thr3229Arg) c.9557C>G (p.Thr3186Arg) c.9548C>G (p.Thr3183Arg) c.9044C>G (p.Thr3015Arg) c.8975C>G (p.Thr2992Arg) c.3761C>G (p.Thr1254Arg) c.9611C>G (p.Thr3204Arg) c.9491C>G (p.Thr3164Arg) c.9422C>G (p.Thr3141Arg) c.7826C>G (p.Thr2609Arg) n.9962C>G | |
| 6 | g.51747930G>T | CA364420534 | PKHD1 | c.9686C>A (p.Thr3229Lys) c.9557C>A (p.Thr3186Lys) c.9548C>A (p.Thr3183Lys) c.9044C>A (p.Thr3015Lys) c.8975C>A (p.Thr2992Lys) c.3761C>A (p.Thr1254Lys) c.9611C>A (p.Thr3204Lys) c.9491C>A (p.Thr3164Lys) c.9422C>A (p.Thr3141Lys) c.7826C>A (p.Thr2609Lys) n.9962C>A | |
| 6 | g.51747931T>A | CA364420537 | PKHD1 | c.9685A>T (p.Thr3229Ser) c.9556A>T (p.Thr3186Ser) c.9547A>T (p.Thr3183Ser) c.9043A>T (p.Thr3015Ser) c.8974A>T (p.Thr2992Ser) c.3760A>T (p.Thr1254Ser) c.9610A>T (p.Thr3204Ser) c.9490A>T (p.Thr3164Ser) c.9421A>T (p.Thr3141Ser) c.7825A>T (p.Thr2609Ser) n.9961A>T | |
| 6 | g.51747931T>C | CA364420535 | PKHD1 | c.9685A>G (p.Thr3229Ala) c.9556A>G (p.Thr3186Ala) c.9547A>G (p.Thr3183Ala) c.9043A>G (p.Thr3015Ala) c.8974A>G (p.Thr2992Ala) c.3760A>G (p.Thr1254Ala) c.9610A>G (p.Thr3204Ala) c.9490A>G (p.Thr3164Ala) c.9421A>G (p.Thr3141Ala) c.7825A>G (p.Thr2609Ala) n.9961A>G | |
| 6 | g.51747931T>G | CA364420536 | PKHD1 | c.9685A>C (p.Thr3229Pro) c.9556A>C (p.Thr3186Pro) c.9547A>C (p.Thr3183Pro) c.9043A>C (p.Thr3015Pro) c.8974A>C (p.Thr2992Pro) c.3760A>C (p.Thr1254Pro) c.9610A>C (p.Thr3204Pro) c.9490A>C (p.Thr3164Pro) c.9421A>C (p.Thr3141Pro) c.7825A>C (p.Thr2609Pro) n.9961A>C | |
| 6 | g.51747932del | CA2578644758 | PKHD1 | c.9685del (p.Thr3229GlnfsTer?) c.9556del (p.Thr3186GlnfsTer?) c.9547del (p.Thr3183GlnfsTer?) c.9043del (p.Thr3015GlnfsTer?) c.8974del (p.Thr2992GlnfsTer?) c.3760del (p.Thr1254GlnfsTer?) c.9610del (p.Thr3204GlnfsTer?) c.9490del (p.Thr3164GlnfsTer?) c.9421del (p.Thr3141GlnfsTer?) c.7825del (p.Thr2609GlnfsTer?) n.9961del | |
| 6 | g.51747932T>A | CA450613591 | PKHD1 | c.9684A>T (p.Ser3228=) c.9555A>T (p.Ser3185=) c.9546A>T (p.Ser3182=) c.9042A>T (p.Ser3014=) c.8973A>T (p.Ser2991=) c.3759A>T (p.Ser1253=) c.9609A>T (p.Ser3203=) c.9489A>T (p.Ser3163=) c.9420A>T (p.Ser3140=) c.7824A>T (p.Ser2608=) n.9960A>T | |
| 6 | g.51747932T>C | CA450613592 | PKHD1 | c.9684A>G (p.Ser3228=) c.9555A>G (p.Ser3185=) c.9546A>G (p.Ser3182=) c.9042A>G (p.Ser3014=) c.8973A>G (p.Ser2991=) c.3759A>G (p.Ser1253=) c.9609A>G (p.Ser3203=) c.9489A>G (p.Ser3163=) c.9420A>G (p.Ser3140=) c.7824A>G (p.Ser2608=) n.9960A>G | dbSNP gnomAD v4 |
| 6 | g.51747932T>G | CA450613593 | PKHD1 | c.9684A>C (p.Ser3228=) c.9555A>C (p.Ser3185=) c.9546A>C (p.Ser3182=) c.9042A>C (p.Ser3014=) c.8973A>C (p.Ser2991=) c.3759A>C (p.Ser1253=) c.9609A>C (p.Ser3203=) c.9489A>C (p.Ser3163=) c.9420A>C (p.Ser3140=) c.7824A>C (p.Ser2608=) n.9960A>C | |
| 6 | g.51747932T= | CA1628502110 | PKHD1 | c.9684A= (p.Ser3228=) c.9555A= (p.Ser3185=) c.9546A= (p.Ser3182=) c.9042A= (p.Ser3014=) c.8973A= (p.Ser2991=) c.3759A= (p.Ser1253=) c.9609A= (p.Ser3203=) c.9489A= (p.Ser3163=) c.9420A= (p.Ser3140=) c.7824A= (p.Ser2608=) n.9960A= | |
| 6 | g.51747933G>A | CA364420538 | PKHD1 | c.9683C>T (p.Ser3228Leu) c.9554C>T (p.Ser3185Leu) c.9545C>T (p.Ser3182Leu) c.9041C>T (p.Ser3014Leu) c.8972C>T (p.Ser2991Leu) c.3758C>T (p.Ser1253Leu) c.9608C>T (p.Ser3203Leu) c.9488C>T (p.Ser3163Leu) c.9419C>T (p.Ser3140Leu) c.7823C>T (p.Ser2608Leu) n.9959C>T | |
| 6 | g.51747933G>C | CA364420539 | PKHD1 | c.9683C>G (p.Ser3228Ter) c.9554C>G (p.Ser3185Ter) c.9545C>G (p.Ser3182Ter) c.9041C>G (p.Ser3014Ter) c.8972C>G (p.Ser2991Ter) c.3758C>G (p.Ser1253Ter) c.9608C>G (p.Ser3203Ter) c.9488C>G (p.Ser3163Ter) c.9419C>G (p.Ser3140Ter) c.7823C>G (p.Ser2608Ter) n.9959C>G | |
| 6 | g.51747933G= | CA1628502115 | PKHD1 | c.9683C= (p.Ser3228=) c.9554C= (p.Ser3185=) c.9545C= (p.Ser3182=) c.9041C= (p.Ser3014=) c.8972C= (p.Ser2991=) c.3758C= (p.Ser1253=) c.9608C= (p.Ser3203=) c.9488C= (p.Ser3163=) c.9419C= (p.Ser3140=) c.7823C= (p.Ser2608=) n.9959C= | |
| 6 | g.51747933G>T | CA16041032 | PKHD1 | c.9683C>A (p.Ser3228Ter) c.9554C>A (p.Ser3185Ter) c.9545C>A (p.Ser3182Ter) c.9041C>A (p.Ser3014Ter) c.8972C>A (p.Ser2991Ter) c.3758C>A (p.Ser1253Ter) c.9608C>A (p.Ser3203Ter) c.9488C>A (p.Ser3163Ter) c.9419C>A (p.Ser3140Ter) c.7823C>A (p.Ser2608Ter) n.9959C>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.51747934A>C | CA364420540 | PKHD1 | c.9682T>G (p.Ser3228Ala) c.9553T>G (p.Ser3185Ala) c.9544T>G (p.Ser3182Ala) c.9040T>G (p.Ser3014Ala) c.8971T>G (p.Ser2991Ala) c.3757T>G (p.Ser1253Ala) c.9607T>G (p.Ser3203Ala) c.9487T>G (p.Ser3163Ala) c.9418T>G (p.Ser3140Ala) c.7822T>G (p.Ser2608Ala) n.9958T>G | |
| 6 | g.51747934A>G | CA364420541 | PKHD1 | c.9682T>C (p.Ser3228Pro) c.9553T>C (p.Ser3185Pro) c.9544T>C (p.Ser3182Pro) c.9040T>C (p.Ser3014Pro) c.8971T>C (p.Ser2991Pro) c.3757T>C (p.Ser1253Pro) c.9607T>C (p.Ser3203Pro) c.9487T>C (p.Ser3163Pro) c.9418T>C (p.Ser3140Pro) c.7822T>C (p.Ser2608Pro) n.9958T>C | |
| 6 | g.51747934A>T | CA364420542 | PKHD1 | c.9682T>A (p.Ser3228Thr) c.9553T>A (p.Ser3185Thr) c.9544T>A (p.Ser3182Thr) c.9040T>A (p.Ser3014Thr) c.8971T>A (p.Ser2991Thr) c.3757T>A (p.Ser1253Thr) c.9607T>A (p.Ser3203Thr) c.9487T>A (p.Ser3163Thr) c.9418T>A (p.Ser3140Thr) c.7822T>A (p.Ser2608Thr) n.9958T>A | |
| 6 | g.51747935T>A | CA450613599 | PKHD1 | c.9681A>T (p.Thr3227=) c.9552A>T (p.Thr3184=) c.9543A>T (p.Thr3181=) c.9039A>T (p.Thr3013=) c.8970A>T (p.Thr2990=) c.3756A>T (p.Thr1252=) c.9606A>T (p.Thr3202=) c.9486A>T (p.Thr3162=) c.9417A>T (p.Thr3139=) c.7821A>T (p.Thr2607=) n.9957A>T | |
| 6 | g.51747935T>C | CA450613597 | PKHD1 | c.9681A>G (p.Thr3227=) c.9552A>G (p.Thr3184=) c.9543A>G (p.Thr3181=) c.9039A>G (p.Thr3013=) c.8970A>G (p.Thr2990=) c.3756A>G (p.Thr1252=) c.9606A>G (p.Thr3202=) c.9486A>G (p.Thr3162=) c.9417A>G (p.Thr3139=) c.7821A>G (p.Thr2607=) n.9957A>G | dbSNP |
| 6 | g.51747935T>G | CA450613598 | PKHD1 | c.9681A>C (p.Thr3227=) c.9552A>C (p.Thr3184=) c.9543A>C (p.Thr3181=) c.9039A>C (p.Thr3013=) c.8970A>C (p.Thr2990=) c.3756A>C (p.Thr1252=) c.9606A>C (p.Thr3202=) c.9486A>C (p.Thr3162=) c.9417A>C (p.Thr3139=) c.7821A>C (p.Thr2607=) n.9957A>C | |
| 6 | g.51747935T= | CA1628502121 | PKHD1 | c.9681A= (p.Thr3227=) c.9552A= (p.Thr3184=) c.9543A= (p.Thr3181=) c.9039A= (p.Thr3013=) c.8970A= (p.Thr2990=) c.3756A= (p.Thr1252=) c.9606A= (p.Thr3202=) c.9486A= (p.Thr3162=) c.9417A= (p.Thr3139=) c.7821A= (p.Thr2607=) n.9957A= | |
| 6 | g.51747936G>A | CA364420543 | PKHD1 | c.9680C>T (p.Thr3227Ile) c.9551C>T (p.Thr3184Ile) c.9542C>T (p.Thr3181Ile) c.9038C>T (p.Thr3013Ile) c.8969C>T (p.Thr2990Ile) c.3755C>T (p.Thr1252Ile) c.9605C>T (p.Thr3202Ile) c.9485C>T (p.Thr3162Ile) c.9416C>T (p.Thr3139Ile) c.7820C>T (p.Thr2607Ile) n.9956C>T | |
| 6 | g.51747936G>C | CA364420544 | PKHD1 | c.9680C>G (p.Thr3227Arg) c.9551C>G (p.Thr3184Arg) c.9542C>G (p.Thr3181Arg) c.9038C>G (p.Thr3013Arg) c.8969C>G (p.Thr2990Arg) c.3755C>G (p.Thr1252Arg) c.9605C>G (p.Thr3202Arg) c.9485C>G (p.Thr3162Arg) c.9416C>G (p.Thr3139Arg) c.7820C>G (p.Thr2607Arg) n.9956C>G | |
| 6 | g.51747936G>T | CA364420545 | PKHD1 | c.9680C>A (p.Thr3227Lys) c.9551C>A (p.Thr3184Lys) c.9542C>A (p.Thr3181Lys) c.9038C>A (p.Thr3013Lys) c.8969C>A (p.Thr2990Lys) c.3755C>A (p.Thr1252Lys) c.9605C>A (p.Thr3202Lys) c.9485C>A (p.Thr3162Lys) c.9416C>A (p.Thr3139Lys) c.7820C>A (p.Thr2607Lys) n.9956C>A | |
| 6 | g.51747937T>A | CA364420546 | PKHD1 | c.9679A>T (p.Thr3227Ser) c.9550A>T (p.Thr3184Ser) c.9541A>T (p.Thr3181Ser) c.9037A>T (p.Thr3013Ser) c.8968A>T (p.Thr2990Ser) c.3754A>T (p.Thr1252Ser) c.9604A>T (p.Thr3202Ser) c.9484A>T (p.Thr3162Ser) c.9415A>T (p.Thr3139Ser) c.7819A>T (p.Thr2607Ser) n.9955A>T | |
| 6 | g.51747937T>C | CA364420547 | PKHD1 | c.9679A>G (p.Thr3227Ala) c.9550A>G (p.Thr3184Ala) c.9541A>G (p.Thr3181Ala) c.9037A>G (p.Thr3013Ala) c.8968A>G (p.Thr2990Ala) c.3754A>G (p.Thr1252Ala) c.9604A>G (p.Thr3202Ala) c.9484A>G (p.Thr3162Ala) c.9415A>G (p.Thr3139Ala) c.7819A>G (p.Thr2607Ala) n.9955A>G | |
| 6 | g.51747937T>G | CA364420548 | PKHD1 | c.9679A>C (p.Thr3227Pro) c.9550A>C (p.Thr3184Pro) c.9541A>C (p.Thr3181Pro) c.9037A>C (p.Thr3013Pro) c.8968A>C (p.Thr2990Pro) c.3754A>C (p.Thr1252Pro) c.9604A>C (p.Thr3202Pro) c.9484A>C (p.Thr3162Pro) c.9415A>C (p.Thr3139Pro) c.7819A>C (p.Thr2607Pro) n.9955A>C | |
| 6 | g.51747938C>A | CA364420550 | PKHD1 | c.9678G>T (p.Leu3226Phe) c.9549G>T (p.Leu3183Phe) c.9540G>T (p.Leu3180Phe) c.9036G>T (p.Leu3012Phe) c.8967G>T (p.Leu2989Phe) c.3753G>T (p.Leu1251Phe) c.9603G>T (p.Leu3201Phe) c.9483G>T (p.Leu3161Phe) c.9414G>T (p.Leu3138Phe) c.7818G>T (p.Leu2606Phe) n.9954G>T | dbSNP gnomAD v4 |
| 6 | g.51747938C= | CA1628502129 | PKHD1 | c.9678G= (p.Leu3226=) c.9549G= (p.Leu3183=) c.9540G= (p.Leu3180=) c.9036G= (p.Leu3012=) c.8967G= (p.Leu2989=) c.3753G= (p.Leu1251=) c.9603G= (p.Leu3201=) c.9483G= (p.Leu3161=) c.9414G= (p.Leu3138=) c.7818G= (p.Leu2606=) n.9954G= | |
| 6 | g.51747938C>G | CA364420549 | PKHD1 | c.9678G>C (p.Leu3226Phe) c.9549G>C (p.Leu3183Phe) c.9540G>C (p.Leu3180Phe) c.9036G>C (p.Leu3012Phe) c.8967G>C (p.Leu2989Phe) c.3753G>C (p.Leu1251Phe) c.9603G>C (p.Leu3201Phe) c.9483G>C (p.Leu3161Phe) c.9414G>C (p.Leu3138Phe) c.7818G>C (p.Leu2606Phe) n.9954G>C | |
| 6 | g.51747938C>T | CA3851352 | PKHD1 | c.9678G>A (p.Leu3226=) c.9549G>A (p.Leu3183=) c.9540G>A (p.Leu3180=) c.9036G>A (p.Leu3012=) c.8967G>A (p.Leu2989=) c.3753G>A (p.Leu1251=) c.9603G>A (p.Leu3201=) c.9483G>A (p.Leu3161=) c.9414G>A (p.Leu3138=) c.7818G>A (p.Leu2606=) n.9954G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51747939A>C | CA364420554 | PKHD1 | c.9677T>G (p.Leu3226Trp) c.9548T>G (p.Leu3183Trp) c.9539T>G (p.Leu3180Trp) c.9035T>G (p.Leu3012Trp) c.8966T>G (p.Leu2989Trp) c.3752T>G (p.Leu1251Trp) c.9602T>G (p.Leu3201Trp) c.9482T>G (p.Leu3161Trp) c.9413T>G (p.Leu3138Trp) c.7817T>G (p.Leu2606Trp) n.9953T>G | |
| 6 | g.51747939A>G | CA364420551 | PKHD1 | c.9677T>C (p.Leu3226Ser) c.9548T>C (p.Leu3183Ser) c.9539T>C (p.Leu3180Ser) c.9035T>C (p.Leu3012Ser) c.8966T>C (p.Leu2989Ser) c.3752T>C (p.Leu1251Ser) c.9602T>C (p.Leu3201Ser) c.9482T>C (p.Leu3161Ser) c.9413T>C (p.Leu3138Ser) c.7817T>C (p.Leu2606Ser) n.9953T>C | |
| 6 | g.51747939A>T | CA364420552 | PKHD1 | c.9677T>A (p.Leu3226Ter) c.9548T>A (p.Leu3183Ter) c.9539T>A (p.Leu3180Ter) c.9035T>A (p.Leu3012Ter) c.8966T>A (p.Leu2989Ter) c.3752T>A (p.Leu1251Ter) c.9602T>A (p.Leu3201Ter) c.9482T>A (p.Leu3161Ter) c.9413T>A (p.Leu3138Ter) c.7817T>A (p.Leu2606Ter) n.9953T>A | |
| 6 | g.51747940A= | CA1628502142 | PKHD1 | c.9676T= (p.Leu3226=) c.9547T= (p.Leu3183=) c.9538T= (p.Leu3180=) c.9034T= (p.Leu3012=) c.8965T= (p.Leu2989=) c.3751T= (p.Leu1251=) c.9601T= (p.Leu3201=) c.9481T= (p.Leu3161=) c.9412T= (p.Leu3138=) c.7816T= (p.Leu2606=) n.9952T= | |
| 6 | g.51747940A>C | CA364420556 | PKHD1 | c.9676T>G (p.Leu3226Val) c.9547T>G (p.Leu3183Val) c.9538T>G (p.Leu3180Val) c.9034T>G (p.Leu3012Val) c.8965T>G (p.Leu2989Val) c.3751T>G (p.Leu1251Val) c.9601T>G (p.Leu3201Val) c.9481T>G (p.Leu3161Val) c.9412T>G (p.Leu3138Val) c.7816T>G (p.Leu2606Val) n.9952T>G | |
| 6 | g.51747940A>G | CA138895924 | PKHD1 | c.9676T>C (p.Leu3226=) c.9547T>C (p.Leu3183=) c.9538T>C (p.Leu3180=) c.9034T>C (p.Leu3012=) c.8965T>C (p.Leu2989=) c.3751T>C (p.Leu1251=) c.9601T>C (p.Leu3201=) c.9481T>C (p.Leu3161=) c.9412T>C (p.Leu3138=) c.7816T>C (p.Leu2606=) n.9952T>C | dbSNP gnomAD v4 |
| 6 | g.51747940A>T | CA364420557 | PKHD1 | c.9676T>A (p.Leu3226Met) c.9547T>A (p.Leu3183Met) c.9538T>A (p.Leu3180Met) c.9034T>A (p.Leu3012Met) c.8965T>A (p.Leu2989Met) c.3751T>A (p.Leu1251Met) c.9601T>A (p.Leu3201Met) c.9481T>A (p.Leu3161Met) c.9412T>A (p.Leu3138Met) c.7816T>A (p.Leu2606Met) n.9952T>A |