ClinVar Miner

List of variants in gene PKD1 reported as likely benign by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 351
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00926
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00850
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084 0.00836
NM_001009944.3(PKD1):c.7066-5G>A rs372745980 0.00669
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00622
NM_001009944.3(PKD1):c.-67C>T rs1016465177 0.00503
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291 0.00492
NM_001009944.3(PKD1):c.214C>T (p.Leu72=) rs972113626 0.00464
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790 0.00411
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=) rs139399947 0.00399
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410 0.00329
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=) rs138648495 0.00324
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00317
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00313
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.11337C>G (p.Ser3779Arg) rs116835405 0.00308
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00306
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00270
NM_001009944.3(PKD1):c.2515C>T (p.Pro839Ser) rs146651553 0.00261
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00248
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=) rs147850232 0.00226
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00216
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp) rs143953714 0.00195
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371 0.00185
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00178
NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln) rs137905643 0.00156
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00153
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342 0.00150
NM_001009944.3(PKD1):c.5455G>T (p.Ala1819Ser) rs202119008 0.00150
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val) rs139917246 0.00140
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00137
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=) rs146745256 0.00137
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val) rs144590217 0.00123
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00115
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00115
NM_001009944.3(PKD1):c.8161+12C>T rs375283810 0.00112
NM_001009944.3(PKD1):c.9924-11C>T rs201154266 0.00111
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095 0.00108
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00105
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00097
NM_001009944.3(PKD1):c.6915+14A>G rs199559513 0.00097
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001009944.3(PKD1):c.3140C>T (p.Ser1047Leu) rs147910505 0.00092
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00089
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) rs141946034 0.00078
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu) rs145922241 0.00077
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00070
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=) rs138116334 0.00070
NM_001009944.3(PKD1):c.4925G>A (p.Arg1642His) rs191014450 0.00070
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00067
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00063
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=) rs143449093 0.00061
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.6204C>T (p.Ser2068=) rs141524278 0.00058
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=) rs371368338 0.00056
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00053
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001009944.3(PKD1):c.768C>T (p.Ala256=) rs548835442 0.00049
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=) rs143843155 0.00048
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001009944.3(PKD1):c.10240G>A (p.Gly3414Ser) rs371762181 0.00040
NM_001009944.3(PKD1):c.-62C>T rs889397886 0.00039
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001009944.3(PKD1):c.12253C>T (p.Leu4085=) rs199674888 0.00039
NM_001009944.3(PKD1):c.10749C>T (p.Gly3583=) rs111688332 0.00036
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_001009944.3(PKD1):c.871G>T (p.Ala291Ser) rs199693673 0.00036
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.2670C>T (p.Asn890=) rs547601879 0.00034
NM_001009944.3(PKD1):c.423G>A (p.Glu141=) rs9932419 0.00034
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00033
NM_001009944.3(PKD1):c.10619-13del rs562614426 0.00033
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
NM_001009944.3(PKD1):c.7490-10C>T rs201304767 0.00032
NM_001009944.3(PKD1):c.8042G>A (p.Arg2681His) rs200742306 0.00032
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997 0.00031
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=) rs141132307 0.00031
NM_001009944.3(PKD1):c.5363G>A (p.Gly1788Asp) rs201778279 0.00031
NM_001009944.3(PKD1):c.2707A>G (p.Ser903Gly) rs4018172 0.00030
NM_001009944.3(PKD1):c.10221-14C>T rs201207354 0.00029
NM_001009944.3(PKD1):c.8618C>T (p.Thr2873Ile) rs148378229 0.00029
NM_001009944.3(PKD1):c.827C>T (p.Thr276Ile) rs527780704 0.00028
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001009944.3(PKD1):c.12570C>T (p.Ser4190=) rs140421738 0.00027
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001009944.3(PKD1):c.7476C>T (p.His2492=) rs763615650 0.00026
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577 0.00025
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=) rs376075101 0.00025
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val) rs183084156 0.00025
NM_001009944.3(PKD1):c.8609G>A (p.Arg2870His) rs200763681 0.00025
NM_001009944.3(PKD1):c.6882C>T (p.Leu2294=) rs758337073 0.00024
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys) rs145906459 0.00024
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.2098-10C>T rs561391461 0.00022
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile) rs145532417 0.00022
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00020
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001009944.3(PKD1):c.6180C>T (p.Ala2060=) rs200782383 0.00019
NM_001009944.3(PKD1):c.10168-8C>T rs199808929 0.00018
NM_001009944.3(PKD1):c.11412-6C>T rs367775096 0.00018
NM_001009944.3(PKD1):c.*8T>G rs767068030 0.00017
NM_001009944.3(PKD1):c.3726G>A (p.Thr1242=) rs146243410 0.00017
NM_001009944.3(PKD1):c.6099G>A (p.Ala2033=) rs376744819 0.00017
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001009944.3(PKD1):c.10316G>A (p.Arg3439Gln) rs138546384 0.00015
NM_001009944.3(PKD1):c.543C>T (p.Val181=) rs1365608859 0.00015
NM_001009944.3(PKD1):c.7241C>T (p.Thr2414Met) rs201267349 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val) rs550768338 0.00015
NM_001009944.3(PKD1):c.12399C>T (p.Phe4133=) rs116309559 0.00014
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp) rs766424461 0.00014
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=) rs764827551 0.00014
NM_001009944.3(PKD1):c.3994G>A (p.Asp1332Asn) rs773388081 0.00013
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=) rs143124196 0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779 0.00013
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met) rs778055216 0.00013
NM_001009944.3(PKD1):c.6572G>A (p.Arg2191His) rs774490045 0.00012
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=) rs754894798 0.00012
NM_001009944.3(PKD1):c.2232C>T (p.Ser744=) rs553802995 0.00011
NM_001009944.3(PKD1):c.4695C>T (p.Ser1565=) rs781264169 0.00011
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=) rs146363575 0.00011
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=) rs990065629 0.00010
NM_001009944.3(PKD1):c.5851C>A (p.Arg1951=) rs191717700 0.00010
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=) rs142391112 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=) rs778410054 0.00009
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00009
NM_001009944.3(PKD1):c.6935C>T (p.Ala2312Val) rs533284364 0.00009
NM_001009944.3(PKD1):c.8161+15G>A rs776023570 0.00009
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00009
NM_001009944.3(PKD1):c.9035C>T (p.Thr3012Met) rs376160782 0.00009
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys) rs543328728 0.00009
NM_001009944.3(PKD1):c.4512C>T (p.Asp1504=) rs774929658 0.00008
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) rs367746233 0.00008
NM_001009944.3(PKD1):c.11473C>T (p.Leu3825=) rs151157369 0.00007
NM_001009944.3(PKD1):c.2949T>C (p.Asn983=) rs766568622 0.00006
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=) rs773475991 0.00006
NM_001009944.3(PKD1):c.8405C>T (p.Pro2802Leu) rs534112936 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.8994C>T (p.His2998=) rs776013663 0.00006
NM_001009944.3(PKD1):c.11978C>T (p.Ser3993Leu) rs775512866 0.00005
NM_001009944.3(PKD1):c.1202-10C>T rs529554291 0.00005
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=) rs759210811 0.00005
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) rs1050939771 0.00005
NM_001009944.3(PKD1):c.3906C>T (p.Ala1302=) rs547817931 0.00005
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=) rs759043048 0.00005
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=) rs748967532 0.00005
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=) rs556708086 0.00005
NM_001009944.3(PKD1):c.7466C>G (p.Thr2489Ser) rs754358218 0.00005
NM_001009944.3(PKD1):c.957G>A (p.Pro319=) rs62038821 0.00005
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=) rs770635587 0.00005
NM_001009944.3(PKD1):c.2098-3C>T rs1295368570 0.00004
NM_001009944.3(PKD1):c.429G>A (p.Gln143=) rs765295197 0.00004
NM_001009944.3(PKD1):c.6666G>A (p.Ala2222=) rs370851999 0.00004
NM_001009944.3(PKD1):c.9168C>T (p.Phe3056=) rs199787425 0.00004
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=) rs535771951 0.00004
NM_001009944.3(PKD1):c.3384C>T (p.Ser1128=) rs530066894 0.00003
NM_001009944.3(PKD1):c.3824G>T (p.Gly1275Val) rs577536178 0.00003
NM_001009944.3(PKD1):c.5994C>T (p.Arg1998=) rs766375023 0.00003
NM_001009944.3(PKD1):c.8016+11C>G rs757750385 0.00003
NM_001009944.3(PKD1):c.9360C>T (p.Tyr3120=) rs983374570 0.00003
NM_001009944.3(PKD1):c.1674G>A (p.Thr558=) rs757658330 0.00002
NM_001009944.3(PKD1):c.2068G>A (p.Val690Ile) rs948344824 0.00002
NM_001009944.3(PKD1):c.4056C>T (p.Ser1352=) rs756229724 0.00002
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=) rs776410570 0.00002
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn) rs900664088 0.00002
NM_001009944.3(PKD1):c.8061G>A (p.Thr2687=) rs745338344 0.00002
NM_001009944.3(PKD1):c.10050+10G>C rs746704728 0.00001
NM_001009944.3(PKD1):c.10194T>C (p.Ser3398=) rs773251931 0.00001
NM_001009944.3(PKD1):c.10536G>A (p.Ala3512=) rs1265357275 0.00001
NM_001009944.3(PKD1):c.11292C>A (p.Gly3764=) rs553713361 0.00001
NM_001009944.3(PKD1):c.1643C>T (p.Ala548Val) rs768613812 0.00001
NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr) rs773053314 0.00001
NM_001009944.3(PKD1):c.2607C>A (p.Arg869=) rs537405706 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.3015C>T (p.Val1005=) rs768622207 0.00001
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu) rs377441860 0.00001
NM_001009944.3(PKD1):c.4713G>A (p.Ser1571=) rs575632499 0.00001
NM_001009944.3(PKD1):c.5559C>T (p.Thr1853=) rs752107118 0.00001
NM_001009944.3(PKD1):c.5589C>T (p.Ser1863=) rs775686229 0.00001
NM_001009944.3(PKD1):c.5979A>G (p.Thr1993=) rs756636397 0.00001
NM_001009944.3(PKD1):c.6195C>T (p.Ala2065=) rs770590637 0.00001
NM_001009944.3(PKD1):c.6450G>A (p.Glu2150=) rs1257734818 0.00001
NM_001009944.3(PKD1):c.6954C>T (p.Arg2318=) rs1209701736 0.00001
NM_001009944.3(PKD1):c.7581C>T (p.Val2527=) rs766719977 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=) rs377029031 0.00001
NM_001009944.3(PKD1):c.8688C>T (p.Ser2896=) rs548736542 0.00001
NM_001009944.3(PKD1):c.9534C>T (p.Ser3178=) rs374200345 0.00001
NM_001009944.3(PKD1):c.-109C>G rs1034012323
NM_001009944.3(PKD1):c.-87A>G
NM_001009944.3(PKD1):c.-9G>A
NM_001009944.3(PKD1):c.10146G>A (p.Thr3382=)
NM_001009944.3(PKD1):c.10220+10C>G
NM_001009944.3(PKD1):c.10251G>A (p.Thr3417=)
NM_001009944.3(PKD1):c.10351G>A (p.Asp3451Asn)
NM_001009944.3(PKD1):c.10406-13C>T
NM_001009944.3(PKD1):c.10406-4C>G
NM_001009944.3(PKD1):c.10499+7G>C
NM_001009944.3(PKD1):c.10637G>A (p.Arg3546Gln)
NM_001009944.3(PKD1):c.10689G>A (p.Leu3563=)
NM_001009944.3(PKD1):c.10822-8del rs373684171
NM_001009944.3(PKD1):c.10950C>T (p.His3650=)
NM_001009944.3(PKD1):c.10966C>T (p.Leu3656=) rs898443059
NM_001009944.3(PKD1):c.11017-10C>T
NM_001009944.3(PKD1):c.11156+12_11156+13delinsAA rs2091665982
NM_001009944.3(PKD1):c.11289C>G (p.Pro3763=)
NM_001009944.3(PKD1):c.11292C>T (p.Gly3764=)
NM_001009944.3(PKD1):c.11333C>A (p.Thr3778Asn)
NM_001009944.3(PKD1):c.11553C>T (p.Phe3851=)
NM_001009944.3(PKD1):c.11634C>T (p.Arg3878=)
NM_001009944.3(PKD1):c.11751C>T (p.Ala3917=)
NM_001009944.3(PKD1):c.11787C>T (p.Arg3929=)
NM_001009944.3(PKD1):c.11874C>T (p.Ala3958=)
NM_001009944.3(PKD1):c.11955C>G (p.Ser3985=) rs369544915
NM_001009944.3(PKD1):c.11988C>T (p.Phe3996=)
NM_001009944.3(PKD1):c.12003+13C>T
NM_001009944.3(PKD1):c.12078C>T (p.Leu4026=) rs562488184
NM_001009944.3(PKD1):c.12132C>T (p.Ala4044=) rs1804177
NM_001009944.3(PKD1):c.12138+14C>T
NM_001009944.3(PKD1):c.12139-11C>T
NM_001009944.3(PKD1):c.12139-8C>T
NM_001009944.3(PKD1):c.12337T>C (p.Leu4113=)
NM_001009944.3(PKD1):c.12810G>A (p.Leu4270=)
NM_001009944.3(PKD1):c.12819C>T (p.Arg4273=) rs2091381361
NM_001009944.3(PKD1):c.12828G>A (p.Arg4276=)
NM_001009944.3(PKD1):c.12831C>T (p.Ala4277=)
NM_001009944.3(PKD1):c.12843G>A (p.Val4281=) rs2091378699
NM_001009944.3(PKD1):c.1386-7C>T
NM_001009944.3(PKD1):c.1854C>G (p.Thr618=)
NM_001009944.3(PKD1):c.2136T>C (p.Gly712=) rs565591302
NM_001009944.3(PKD1):c.2160C>T (p.Asp720=)
NM_001009944.3(PKD1):c.2244G>C (p.Ser748=) rs557661193
NM_001009944.3(PKD1):c.2253G>T (p.Leu751=)
NM_001009944.3(PKD1):c.2367A>G (p.Gly789=)
NM_001009944.3(PKD1):c.2457C>T (p.Ser819=) rs1454717343
NM_001009944.3(PKD1):c.2490C>G (p.Ala830=)
NM_001009944.3(PKD1):c.2502C>T (p.Gly834=)
NM_001009944.3(PKD1):c.2759C>G (p.Ala920Gly) rs1555457748
NM_001009944.3(PKD1):c.2775G>C (p.Arg925=)
NM_001009944.3(PKD1):c.2781G>T (p.Thr927=)
NM_001009944.3(PKD1):c.2811C>T (p.Ala937=)
NM_001009944.3(PKD1):c.2853+10G>T
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.3036C>T (p.Thr1012=)
NM_001009944.3(PKD1):c.3412C>T (p.Leu1138=)
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=) rs151026121
NM_001009944.3(PKD1):c.3548C>G (p.Ser1183Trp)
NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
NM_001009944.3(PKD1):c.3636C>T (p.Leu1212=) rs753613908
NM_001009944.3(PKD1):c.3711G>A (p.Thr1237=)
NM_001009944.3(PKD1):c.383A>C (p.Glu128Ala)
NM_001009944.3(PKD1):c.3864C>T (p.His1288=)
NM_001009944.3(PKD1):c.3868C>G (p.Leu1290Val)
NM_001009944.3(PKD1):c.3894C>T (p.Arg1298=)
NM_001009944.3(PKD1):c.3925C>G (p.Pro1309Ala) rs374776444
NM_001009944.3(PKD1):c.3931G>T (p.Ala1311Ser) rs146169133
NM_001009944.3(PKD1):c.4011G>A (p.Thr1337=)
NM_001009944.3(PKD1):c.4029G>A (p.Pro1343=)
NM_001009944.3(PKD1):c.4044C>T (p.Asn1348=)
NM_001009944.3(PKD1):c.4050G>A (p.Thr1350=)
NM_001009944.3(PKD1):c.411G>A (p.Pro137=)
NM_001009944.3(PKD1):c.4136A>T (p.Glu1379Val) rs149210297
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4456C>T (p.Leu1486=) rs1327407759
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4557C>T (p.Ser1519=)
NM_001009944.3(PKD1):c.4653C>T (p.Leu1551=)
NM_001009944.3(PKD1):c.4824T>C (p.Asn1608=) rs569136450
NM_001009944.3(PKD1):c.4884C>T (p.Val1628=)
NM_001009944.3(PKD1):c.496C>T (p.Leu166=)
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=) rs144091742
NM_001009944.3(PKD1):c.5092C>T (p.Arg1698Trp) rs141871028
NM_001009944.3(PKD1):c.5181G>A (p.Pro1727=)
NM_001009944.3(PKD1):c.5223G>A (p.Glu1741=) rs779556506
NM_001009944.3(PKD1):c.5252C>T (p.Thr1751Ile)
NM_001009944.3(PKD1):c.530-27_530-26dup
NM_001009944.3(PKD1):c.5310C>T (p.Ser1770=)
NM_001009944.3(PKD1):c.5322C>T (p.Pro1774=)
NM_001009944.3(PKD1):c.5895C>T (p.Ile1965=)
NM_001009944.3(PKD1):c.5997C>T (p.Gly1999=)
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.6057C>T (p.Val2019=)
NM_001009944.3(PKD1):c.6063G>A (p.Leu2021=)
NM_001009944.3(PKD1):c.6207C>T (p.Gly2069=) rs1478973195
NM_001009944.3(PKD1):c.6405G>A (p.Ala2135=)
NM_001009944.3(PKD1):c.6447G>A (p.Pro2149=)
NM_001009944.3(PKD1):c.6588G>A (p.Gln2196=) rs2092420452
NM_001009944.3(PKD1):c.6625G>T (p.Val2209Leu) rs745677305
NM_001009944.3(PKD1):c.6777C>A (p.Ile2259=)
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=) rs142928249
NM_001009944.3(PKD1):c.6819C>T (p.Asp2273=) rs372298966
NM_001009944.3(PKD1):c.7008C>T (p.Tyr2336=)
NM_001009944.3(PKD1):c.7023C>T (p.Thr2341=) rs555685116
NM_001009944.3(PKD1):c.7065+14G>C
NM_001009944.3(PKD1):c.7110T>C (p.Cys2370=)
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001009944.3(PKD1):c.7446C>G (p.Gly2482=) rs775215483
NM_001009944.3(PKD1):c.7503G>A (p.Ala2501=)
NM_001009944.3(PKD1):c.7740C>T (p.Ser2580=)
NM_001009944.3(PKD1):c.7902C>T (p.His2634=)
NM_001009944.3(PKD1):c.7956C>A (p.Ser2652=)
NM_001009944.3(PKD1):c.8016+13del
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg) rs760592410
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys) rs202159463
NM_001009944.3(PKD1):c.843C>T (p.His281=) rs760237424
NM_001009944.3(PKD1):c.8538C>T (p.Thr2846=) rs774274728
NM_001009944.3(PKD1):c.8594G>A (p.Arg2865Gln)
NM_001009944.3(PKD1):c.8948+12G>A rs369347070
NM_001009944.3(PKD1):c.8982C>T (p.Asn2994=)
NM_001009944.3(PKD1):c.8991C>T (p.Ser2997=)
NM_001009944.3(PKD1):c.9028C>T (p.Leu3010=)
NM_001009944.3(PKD1):c.9066C>T (p.Asp3022=)
NM_001009944.3(PKD1):c.911G>A (p.Arg304His) rs574313228
NM_001009944.3(PKD1):c.9213G>A (p.Ala3071=)
NM_001009944.3(PKD1):c.9261C>G (p.Thr3087=)
NM_001009944.3(PKD1):c.927C>T (p.Asp309=)
NM_001009944.3(PKD1):c.9397+14C>T
NM_001009944.3(PKD1):c.9568+9G>A
NM_001009944.3(PKD1):c.9569-12G>C
NM_001009944.3(PKD1):c.9636C>T (p.Phe3212=)
NM_001009944.3(PKD1):c.9711G>A (p.Ala3237=)
NM_001009944.3(PKD1):c.9717C>T (p.Asp3239=)
NM_001009944.3(PKD1):c.9831C>T (p.Arg3277=)
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487

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