ClinVar Miner

Variants in gene SACS with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

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
4032 309 0 187 338 0 29 493

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 92 3 0 0
likely pathogenic 92 0 21 4 7
uncertain significance 3 21 0 279 87
likely benign 0 4 279 0 95
benign 0 7 87 95 0

All variants with conflicting interpretations #

Total variants: 493
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.22637
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.22584
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08898
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08888
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02663
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02472
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_014363.6(SACS):c.346-47G>A rs9510706 0.01795
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.01350
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.01341
NM_014363.6(SACS):c.-219A>G rs74495070 0.01003
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00933
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00744
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00719
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00719
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970 0.00691
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00649
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00597
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00495
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00422
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00417
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00415
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00328
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00287
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958 0.00255
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00212
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302 0.00177
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00117
NM_014363.6(SACS):c.13374C>T (p.Phe4458=) rs148914536 0.00111
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00090
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00088
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638 0.00076
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00062
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00061
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00057
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00054
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00052
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_014363.6(SACS):c.3828A>G (p.Pro1276=) rs369988818 0.00034
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00033
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014363.6(SACS):c.439G>C (p.Asp147His) rs202226274 0.00031
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_014363.6(SACS):c.1273C>A (p.Pro425Thr) rs142024534 0.00026
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00019
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740 0.00019
NM_014363.6(SACS):c.9778G>C (p.Asp3260His) rs148545339 0.00018
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00017
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00016
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00015
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00015
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00013
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00013
NM_014363.6(SACS):c.5826C>T (p.Tyr1942=) rs759326217 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro) rs147837803 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_014363.6(SACS):c.7641A>G (p.Lys2547=) rs780021681 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00010
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00010
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00010
NM_014363.6(SACS):c.3637T>C (p.Leu1213=) rs577638741 0.00010
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00009
NM_014363.6(SACS):c.10221A>G (p.Leu3407=) rs143243372 0.00008
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val) rs142926244 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00008
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00008
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys) rs371980996 0.00007
NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr) rs200950824 0.00007
NM_014363.6(SACS):c.1067T>C (p.Ile356Thr) rs149444716 0.00007
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00007
NM_014363.6(SACS):c.12811C>T (p.Pro4271Ser) rs768414125 0.00007
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00007
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.6278G>A (p.Arg2093His) rs150018812 0.00007
NM_014363.6(SACS):c.6576C>T (p.Ile2192=) rs145327845 0.00007
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn) rs371935764 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.4743C>T (p.Phe1581=) rs143310473 0.00006
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_014363.6(SACS):c.11039T>C (p.Ile3680Thr) rs754184596 0.00005
NM_014363.6(SACS):c.11363G>A (p.Arg3788His) rs147369196 0.00005
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00005
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg) rs765556647 0.00005
NM_014363.6(SACS):c.13342C>T (p.Arg4448Cys) rs770940649 0.00005
NM_014363.6(SACS):c.1537A>G (p.Ile513Val) rs199806204 0.00005
NM_014363.6(SACS):c.1613C>T (p.Ala538Val) rs368043113 0.00005
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser) rs61760905 0.00005
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017 0.00005
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg) rs199998045 0.00005
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00005
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) rs191995849 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00005
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile) rs775621526 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00005
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00005
NM_014363.6(SACS):c.9769G>T (p.Val3257Leu) rs1041641264 0.00005
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met) rs751176093 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys) rs200594912 0.00004
NM_014363.6(SACS):c.346-3T>A rs186506382 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.1079G>A (p.Cys360Tyr) rs983169408 0.00003
NM_014363.6(SACS):c.1123G>A (p.Val375Ile) rs137924716 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 0.00003
NM_014363.6(SACS):c.12358T>G (p.Leu4120Val) rs760872955 0.00003
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu) rs774349752 0.00003
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg) rs777946704 0.00003
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys) rs752833893 0.00003
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00003
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.2927G>A (p.Arg976His) rs751415868 0.00003
NM_014363.6(SACS):c.394T>G (p.Leu132Val) rs553107347 0.00003
NM_014363.6(SACS):c.416G>A (p.Gly139Glu) rs759987183 0.00003
NM_014363.6(SACS):c.4654A>C (p.Lys1552Gln) rs376178701 0.00003
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) rs148824690 0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321 0.00003
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00003
NM_014363.6(SACS):c.7304T>C (p.Leu2435Pro) rs1445071756 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr) rs761695127 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg) rs772374399 0.00002
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala) rs762493571 0.00002
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00002
NM_014363.6(SACS):c.263G>A (p.Arg88Gln) rs746670792 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.3200A>G (p.Asn1067Ser) rs371219067 0.00002
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp) rs1426756976 0.00002
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile) rs1326604025 0.00002
NM_014363.6(SACS):c.8900G>A (p.Arg2967His) rs777753707 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr) rs767281295 0.00001
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295 0.00001
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr) rs551720360 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.10991T>C (p.Ile3664Thr) rs140180561 0.00001
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) rs748237614 0.00001
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet) rs1454517884 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12053T>C (p.Ile4018Thr) rs757430776 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12613A>G (p.Ile4205Val) rs756979757 0.00001
NM_014363.6(SACS):c.12835C>G (p.Leu4279Val) rs537725928 0.00001
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser) rs748415049 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn) rs755850308 0.00001
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181 0.00001
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys) rs763212039 0.00001
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00001
NM_014363.6(SACS):c.1406G>A (p.Gly469Asp) rs759808501 0.00001
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438 0.00001
NM_014363.6(SACS):c.1579T>C (p.Ser527Pro) rs771914413 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1654C>G (p.Leu552Val) rs767218921 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp) rs768855225 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser) rs769153924 0.00001
NM_014363.6(SACS):c.259+9T>C rs780820263 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) rs766457071 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3060A>G (p.Leu1020=) rs746764976 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) rs774044532 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter) rs1027429746 0.00001
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg) rs767797830 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe) rs753675356 0.00001
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala) rs768073167 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.511G>A (p.Gly171Ser) rs1376756373 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala) rs779589728 0.00001
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu) rs1364796862 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) rs762352013 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.727C>G (p.Leu243Val) rs764837003 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699 0.00001
NM_014363.6(SACS):c.7679A>G (p.Glu2560Gly) rs770540338 0.00001
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys) rs749931330 0.00001
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe) rs1593126754 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile) rs1327898921 0.00001
NM_014363.6(SACS):c.8254A>G (p.Ile2752Val) rs375814343 0.00001
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile) rs766202221 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln) rs770769237 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014363.6(SACS):c.9692G>T (p.Cys3231Phe) rs777097951 0.00001
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser) rs772932340 0.00001
NM_014363.6(SACS):c.9972A>T (p.Leu3324=) rs772412510 0.00001
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile) rs144179865
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10485G>A (p.Glu3495=) rs757255802
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val) rs747920603
NM_014363.6(SACS):c.10897T>G (p.Phe3633Val)
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs) rs1883576381
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) rs773588375
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile) rs200930332
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del) rs2137565671
NM_014363.6(SACS):c.11708G>A (p.Arg3903Gln) rs768413178
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.12099A>T (p.Lys4033Asn) rs753090825
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter) rs2542155049
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu) rs376168781
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs) rs775863207
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12839del (p.Phe4280fs) rs1197238841
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.13034A>G (p.His4345Arg)
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13236_13239del (p.Arg4412fs) rs2542141517
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014363.6(SACS):c.3309dup (p.Val1104fs) rs2137636629
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu) rs144267558
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3443A>G (p.Lys1148Arg) rs140028127
NM_014363.6(SACS):c.346-19del rs200011804
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.4003G>A (p.Val1335Ile) rs1049580052
NM_014363.6(SACS):c.4108C>T (p.Gln1370Ter)
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.429_430del (p.Trp144fs) rs1555255328
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter) rs2542273834
NM_014363.6(SACS):c.4986G>A (p.Thr1662=) rs755523201
NM_014363.6(SACS):c.5151del (p.Lys1717fs) rs754439135
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg) rs760926837
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter) rs2542268784
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr) rs781525831
NM_014363.6(SACS):c.5522T>C (p.Leu1841Pro) rs371618619
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.6312_6313del (p.His2105fs)
NM_014363.6(SACS):c.6641G>A (p.Arg2214His) rs765977497
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val) rs567650774
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7962T>A (p.Tyr2654Ter) rs777875035
NM_014363.6(SACS):c.7990G>A (p.Gly2664Arg) rs2137595708
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs) rs779248938
NM_014363.6(SACS):c.8239dup (p.Ile2747fs) rs779248938
NM_014363.6(SACS):c.826C>T (p.Arg276Cys) rs1438645077
NM_014363.6(SACS):c.827G>A (p.Arg276His) rs2542402666
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8385dup (p.Asp2796fs) rs2542218493
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
NM_014363.6(SACS):c.9359G>A (p.Arg3120His) rs569955570
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) rs1555250557
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.972C>T (p.Asp324=) rs546652936
NM_014363.6(SACS):c.9919A>C (p.Met3307Leu) rs767126708
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931

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