ClinVar Miner

Variants with conflicting interpretations studied for Autosomal recessive polycystic kidney disease

Coded as:
Minimum review status of the submission for Autosomal recessive polycystic kidney disease: Collection method of the submission for Autosomal recessive polycystic kidney disease:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
4189 449 0 304 204 0 33 513

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Autosomal recessive polycystic kidney disease pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 244 15 0 0
likely pathogenic 244 0 27 1 1
uncertain significance 15 27 0 184 37
likely benign 0 1 184 0 60
benign 0 1 37 60 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Autosomal recessive polycystic kidney disease 4189 449 0 304 204 0 33 513

All variants with conflicting interpretations #

Total variants: 513
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02384
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01112
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218 0.00916
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00758
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00741
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00718
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00628
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00329
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00285
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00243
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242 0.00159
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00137
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln) rs185941281 0.00125
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922 0.00113
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00109
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00107
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00105
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00104
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.5752-9G>A rs184441390 0.00074
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00064
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00064
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00056
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00054
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00050
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) rs112030234 0.00049
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00041
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_138694.4(PKHD1):c.5381-12T>C rs143682303 0.00037
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln) rs140781915 0.00035
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00035
NM_138694.4(PKHD1):c.7215+13G>T rs562612275 0.00034
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00032
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00032
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993 0.00031
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850 0.00027
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00026
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00024
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) rs148817026 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00023
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=) rs557162970 0.00023
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) rs371665285 0.00021
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00020
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00019
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00019
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761 0.00018
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00018
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys) rs137972270 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.812T>A (p.Leu271His) rs750887164 0.00015
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635 0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00014
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716 0.00014
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser) rs148108992 0.00014
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497 0.00014
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00014
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val) rs145745489 0.00014
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837 0.00013
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00013
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493 0.00011
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188 0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165 0.00010
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044 0.00010
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 0.00009
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00009
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=) rs373795139 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00008
NM_138694.4(PKHD1):c.3629-15G>A rs375870003 0.00007
NM_138694.4(PKHD1):c.711A>T (p.Ser237=) rs138184195 0.00007
NM_138694.4(PKHD1):c.8440+10G>C rs376658460 0.00007
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593 0.00006
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=) rs199768081 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=) rs775529923 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=) rs141473212 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) rs371830478 0.00006
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) rs748084543 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=) rs555442845 0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) rs200278368 0.00005
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159 0.00004
NM_138694.4(PKHD1):c.2280-10C>T rs749295454 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.786A>G (p.Leu262=) rs570064466 0.00004
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11507-8C>T rs755710579 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=) rs750233738 0.00003
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00003
NM_138694.4(PKHD1):c.708-4G>A rs748018742 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.8173+12C>T rs368093611 0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00003
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs) rs1388716999 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=) rs773270584 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=) rs770308751 0.00002
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter) rs765934021 0.00002
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile) rs190315828 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5556T>C (p.His1852=) rs549418638 0.00002
NM_138694.4(PKHD1):c.5601-8C>T rs578030952 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg) rs771108371 0.00002
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939 0.00002
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter) rs1454977903 0.00001
NM_138694.4(PKHD1):c.10986T>C (p.Ile3662=) rs1772384993 0.00001
NM_138694.4(PKHD1):c.11507-5C>T rs886061609 0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.1693+10G>A rs886061621 0.00001
NM_138694.4(PKHD1):c.1694-10C>G rs745911880 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=) rs775144938 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.2141-4C>G rs1042054004 0.00001
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg) rs1229139298 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs) rs767737392 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 0.00001
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088 0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=) rs758231968 0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.414C>T (p.Ile138=) rs368595925 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00001
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro) rs140331370 0.00001
NM_138694.4(PKHD1):c.449-7C>T rs1405707219 0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp) rs1278235097 0.00001
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) rs375437755 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=) rs754333450 0.00001
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser) rs761046498 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618 0.00001
NM_138694.4(PKHD1):c.534G>A (p.Val178=) rs1226545035 0.00001
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.5909-46_5943del rs2127769312 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) rs774944622 0.00001
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) rs794727680 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=) rs200807210 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.7733+15C>A rs771759749 0.00001
NM_138694.4(PKHD1):c.7872A>G (p.Ser2624=) rs1446607271 0.00001
NM_138694.4(PKHD1):c.798A>C (p.Pro266=) rs752452008 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8847G>A (p.Glu2949=) rs1340211741 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) rs1477456222 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.977-1G>A rs1808864196 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563 0.00001
NM_138694.3(PKHD1):c.131delG rs1812197323
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter) rs2150962096
NM_138694.4(PKHD1):c.10149C>T (p.Phe3383=) rs2533727251
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.104del (p.Gly35fs)
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=) rs1581893486
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs) rs2533443743
NM_138694.4(PKHD1):c.10673del (p.Gly3558fs) rs2150414452
NM_138694.4(PKHD1):c.10708del (p.Ser3570fs) rs2533442392
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile) rs147700643
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer) rs1554183204
NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter) rs2533437015
NM_138694.4(PKHD1):c.10929A>G (p.Glu3643=) rs1772398687
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) rs1554219429
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter) rs1772364866
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter) rs1768958447
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11766del (p.Asp3923fs) rs897090338
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11830del (p.His3944fs) rs774086520
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=) rs751385266
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.1260del (p.Thr421fs) rs2533374401
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) rs2128212671
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) rs1582013246
NM_138694.4(PKHD1):c.134_154delinsAG (p.Leu45_Pro52delinsTer) rs1812193678
NM_138694.4(PKHD1):c.1350del (p.Met451fs) rs2533371061
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter) rs1200570964
NM_138694.4(PKHD1):c.1492del (p.Gln498fs) rs2533366370
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1693+2T>C rs1581999471
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn) rs2128203385
NM_138694.4(PKHD1):c.210dup (p.Ala71fs) rs2533760521
NM_138694.4(PKHD1):c.2175G>A (p.Gly725=) rs2533213508
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter) rs1806573538
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2457T>C (p.Asn819=) rs1805781325
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter) rs1805754682
NM_138694.4(PKHD1):c.2592+10G>A
NM_138694.4(PKHD1):c.2606del (p.Asn869fs) rs2533097821
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.281+13G>A rs1812167147
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter) rs773136605
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu) rs2533050685
NM_138694.4(PKHD1):c.2932del (p.Gln978fs) rs2128182780
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.3018C>T (p.Ile1006=) rs2128182475
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=) rs559684657
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=) rs1581909859
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu) rs777976050
NM_138694.4(PKHD1):c.312_313del (p.Tyr105fs) rs2533717883
NM_138694.4(PKHD1):c.3225del (p.Arg1076fs) rs1803814845
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs) rs1803325484
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs) rs2532871665
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser) rs1803308145
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter) rs1802523270
NM_138694.4(PKHD1):c.3513C>T (p.Leu1171=) rs2128152639
NM_138694.4(PKHD1):c.3549del (p.His1184fs) rs1802504786
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter) rs2532778455
NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter) rs2532776122
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=) rs1581815094
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter) rs2532740167
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) rs2128146668
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs) rs2532738284
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) rs1373102999
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3G>A (p.Met1Ile)
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.402G>A (p.Ala134=) rs200992930
NM_138694.4(PKHD1):c.4034del (p.Gly1345fs) rs2128145261
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=) rs1802043497
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter) rs771702541
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) rs1246693314
NM_138694.4(PKHD1):c.4300T>C (p.Leu1434=) rs2532717499
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) rs1581808463
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4462_4475del (p.Met1488fs)
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.449-6A>T rs200204976
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs) rs2128142610
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) rs2128142132
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter) rs2128141956
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr) rs1801882025
NM_138694.4(PKHD1):c.5117del (p.Val1706fs) rs2532687403
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.51A>G (p.Ala17=) rs2533801001
NM_138694.4(PKHD1):c.525del (p.Asp175fs) rs1810924520
NM_138694.4(PKHD1):c.5374del (p.Leu1792fs) rs2128138378
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr) rs1800745257
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter) rs913487671
NM_138694.4(PKHD1):c.5565G>A (p.Glu1855=) rs1800718076
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter) rs2128231878
NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter) rs2128117147
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.575_578del (p.Ser192fs) rs2533606360
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter) rs1208103544
NM_138694.4(PKHD1):c.5916G>A (p.Lys1972=) rs2127769498
NM_138694.4(PKHD1):c.5967T>C (p.Leu1989=) rs2127769064
NM_138694.4(PKHD1):c.603-8T>C rs2128230211
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro) rs777228780
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser) rs551783157
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs) rs2536680046
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6332+1G>A rs1042247087
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs) rs1783005266
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs) rs1782991463
NM_138694.4(PKHD1):c.6506_6511delinsC (p.Cys2169fs) rs2536626103
NM_138694.4(PKHD1):c.6508_6511del (p.Leu2170fs) rs1375646742
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg) rs778124617
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=) rs368194577
NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu) rs1554300376
NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter) rs758404336
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.6925G>T (p.Glu2309Ter)
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs) rs2536254489
NM_138694.4(PKHD1):c.7008G>A (p.Val2336=) rs1406265397
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs) rs2536254210
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=) rs765985090
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs) rs2536225023
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp) rs934488030
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7594_7597del (p.Ser2532fs) rs2535976753
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) rs1775351921
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs) rs1583054534
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=) rs752563887
NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg) rs748196998
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.8128C>T (p.Gln2710Ter) rs2151549840
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs) rs1057516775
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_138694.4(PKHD1):c.820dup (p.Arg274fs) rs1582064844
NM_138694.4(PKHD1):c.8303-9C>T rs2534647634
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) rs2128223990
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8554+7G>A rs2151159723
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8604_8605del (p.Trp2868fs) rs2534279539
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.8837del (p.Leu2946fs) rs2533917665
NM_138694.4(PKHD1):c.8870_8874del (p.Ile2957fs) rs2533915465
NM_138694.4(PKHD1):c.888A>G (p.Pro296=) rs76012218
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter) rs2150987482
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9027G>A (p.Val3009=) rs1785566962
NM_138694.4(PKHD1):c.9037T>C (p.Ser3013Pro)
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9075dup (p.Gly3026fs)
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9318C>T (p.Ile3106=) rs2533820400
NM_138694.4(PKHD1):c.9357T>G (p.Ser3119=)
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) rs373241537
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter) rs2533812064
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter) rs2150982651
NM_138694.4(PKHD1):c.9615del (p.Ile3205fs) rs2533809100
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter) rs1209773827
NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter) rs2533802259
NM_138694.4(PKHD1):c.9845del (p.Ser3282fs) rs2533780261
NM_138694.4(PKHD1):c.9991C>T (p.Gln3331Ter)

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