ClinVar Miner

Variants in gene ALPK3 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
2057 918 0 85 170 0 9 255

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 21 3 0 0
likely pathogenic 21 0 7 1 1
uncertain significance 3 7 0 169 8
likely benign 0 1 169 0 64
benign 0 1 8 64 0

All variants with conflicting interpretations #

Total variants: 255
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20039
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser) rs3803403 0.19072
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp) rs55752937 0.02231
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg) rs55702300 0.02213
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg) rs78778733 0.01836
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp) rs34775428 0.01753
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys) rs35633849 0.01727
NM_020778.5(ALPK3):c.401G>A (p.Arg134His) rs34407151 0.01062
NM_020778.5(ALPK3):c.104C>T (p.Ala35Val) rs75088852 0.01026
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg) rs114132013 0.00860
NC_000015.10:g.84817021C>G rs115389253 0.00431
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00387
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=) rs114957070 0.00358
NM_020778.5(ALPK3):c.2597C>T (p.Thr866Met) rs35292668 0.00358
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr) rs114449938 0.00349
NM_020778.5(ALPK3):c.123C>T (p.Leu41=) rs78638069 0.00345
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln) rs145993158 0.00335
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_020778.5(ALPK3):c.2367T>C (p.Thr789=) rs55727747 0.00290
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00277
NM_020778.5(ALPK3):c.5091G>A (p.Glu1697=) rs116608834 0.00261
NM_020778.5(ALPK3):c.1336C>A (p.Pro446Thr) rs199986476 0.00202
NM_020778.5(ALPK3):c.3965+11G>A rs117116043 0.00175
NM_020778.5(ALPK3):c.4063G>A (p.Ala1355Thr) rs114686452 0.00171
NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=) rs368494764 0.00135
NC_000015.10:g.84816855G>A rs28408840 0.00109
NM_020778.5(ALPK3):c.940G>A (p.Ala314Thr) rs115287026 0.00093
NM_020778.5(ALPK3):c.2747T>C (p.Leu916Pro) rs150385353 0.00084
NC_000015.10:g.84817038C>A rs115479471 0.00070
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys) rs141449225 0.00067
NM_020778.5(ALPK3):c.3401C>T (p.Ala1134Val) rs139666355 0.00066
NM_020778.5(ALPK3):c.135C>T (p.Pro45=) rs369591811 0.00062
NM_020778.5(ALPK3):c.3966-14T>C rs145646854 0.00062
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg) rs115074675 0.00056
NM_020778.5(ALPK3):c.1900C>T (p.Arg634Cys) rs201086326 0.00054
NC_000015.10:g.84817088C>T rs200966727 0.00045
NM_020778.5(ALPK3):c.2469A>G (p.Ser823=) rs201780221 0.00043
NM_020778.5(ALPK3):c.3353C>T (p.Ala1118Val) rs200275512 0.00042
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys) rs150227073 0.00041
NM_020778.5(ALPK3):c.2223C>T (p.Leu741=) rs138935453 0.00039
NM_020778.5(ALPK3):c.2262A>G (p.Glu754=) rs143456491 0.00038
NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu) rs148547083 0.00038
NM_020778.5(ALPK3):c.4056C>T (p.His1352=) rs144613098 0.00035
NM_020778.5(ALPK3):c.1737C>T (p.Ser579=) rs115301935 0.00032
NM_020778.5(ALPK3):c.5114G>A (p.Arg1705Gln) rs116585466 0.00032
NM_020778.5(ALPK3):c.1738G>A (p.Gly580Arg) rs143892088 0.00027
NM_020778.5(ALPK3):c.3702G>A (p.Ala1234=) rs55721004 0.00027
NM_020778.5(ALPK3):c.4387A>G (p.Arg1463Gly) rs147450988 0.00026
NM_020778.5(ALPK3):c.2528G>A (p.Arg843Gln) rs114988007 0.00024
NM_020778.5(ALPK3):c.4156A>G (p.Met1386Val) rs149627415 0.00024
NM_020778.5(ALPK3):c.2674G>A (p.Gly892Arg) rs145983200 0.00023
NM_020778.5(ALPK3):c.948G>A (p.Lys316=) rs151107093 0.00023
NM_020778.5(ALPK3):c.1412C>T (p.Thr471Ile) rs143709902 0.00021
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile) rs56015306 0.00020
NM_020778.5(ALPK3):c.3596G>A (p.Ser1199Asn) rs372009130 0.00018
NM_020778.5(ALPK3):c.1691C>T (p.Ser564Leu) rs200540710 0.00017
NM_020778.5(ALPK3):c.2146G>A (p.Ala716Thr) rs201330184 0.00017
NC_000015.10:g.84817000C>T rs373853510 0.00016
NM_020778.5(ALPK3):c.4765C>T (p.Leu1589Phe) rs1012634268 0.00016
NM_020778.5(ALPK3):c.2831G>A (p.Gly944Glu) rs558514709 0.00015
NM_020778.5(ALPK3):c.5064G>A (p.Leu1688=) rs115813516 0.00015
NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro) rs750401200 0.00014
NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala) rs199645892 0.00014
NM_020778.5(ALPK3):c.3662C>T (p.Ala1221Val) rs557058818 0.00014
NM_020778.5(ALPK3):c.712C>T (p.Pro238Ser) rs138094037 0.00014
NM_020778.5(ALPK3):c.1226A>G (p.Gln409Arg) rs765187060 0.00013
NM_020778.5(ALPK3):c.4381G>C (p.Val1461Leu) rs143835594 0.00013
NM_020778.5(ALPK3):c.4458A>G (p.Ala1486=) rs200241564 0.00013
NM_020778.5(ALPK3):c.726T>C (p.Pro242=) rs143386861 0.00013
NC_000015.10:g.84817333A>G rs1008637055 0.00011
NM_020778.5(ALPK3):c.2701G>A (p.Glu901Lys) rs199572606 0.00011
NM_020778.5(ALPK3):c.3704C>T (p.Ala1235Val) rs200282192 0.00011
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg) rs367667489 0.00011
NM_020778.5(ALPK3):c.4600G>A (p.Glu1534Lys) rs765401924 0.00011
NM_020778.5(ALPK3):c.62G>T (p.Gly21Val) rs1415475314 0.00011
NM_020778.5(ALPK3):c.183-5C>T rs758923137 0.00010
NM_020778.5(ALPK3):c.3231C>T (p.Asp1077=) rs142001827 0.00010
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp) rs56191073 0.00009
NM_020778.5(ALPK3):c.3683G>A (p.Arg1228Gln) rs150023454 0.00009
NM_020778.5(ALPK3):c.2653A>G (p.Ser885Gly) rs770595600 0.00008
NM_020778.5(ALPK3):c.983G>A (p.Arg328Gln) rs1343260515 0.00008
NM_020778.5(ALPK3):c.168C>T (p.His56=) rs773308589 0.00007
NM_020778.5(ALPK3):c.182+9A>G rs200942386 0.00007
NM_020778.5(ALPK3):c.2513G>T (p.Cys838Phe) rs202037221 0.00007
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His) rs184951836 0.00007
NM_020778.5(ALPK3):c.3752T>C (p.Val1251Ala) rs762986369 0.00007
NM_020778.5(ALPK3):c.3986C>T (p.Ala1329Val) rs140665587 0.00007
NM_020778.5(ALPK3):c.698C>T (p.Pro233Leu) rs150785783 0.00007
NM_020778.5(ALPK3):c.2498A>G (p.Asp833Gly) rs761421251 0.00006
NM_020778.5(ALPK3):c.2504C>T (p.Pro835Leu) rs529373050 0.00006
NM_020778.5(ALPK3):c.2543C>T (p.Pro848Leu) rs372536101 0.00006
NM_020778.5(ALPK3):c.2753C>T (p.Thr918Ile) rs202161551 0.00006
NM_020778.5(ALPK3):c.3319C>G (p.Gln1107Glu) rs767926913 0.00006
NM_020778.5(ALPK3):c.3663G>A (p.Ala1221=) rs373560347 0.00006
NM_020778.5(ALPK3):c.3736G>A (p.Gly1246Ser) rs765178304 0.00006
NM_020778.5(ALPK3):c.4309G>A (p.Glu1437Lys) rs747233148 0.00006
NM_020778.5(ALPK3):c.962A>G (p.Glu321Gly) rs764430950 0.00006
NM_020778.5(ALPK3):c.2477C>T (p.Pro826Leu) rs775305251 0.00005
NM_020778.5(ALPK3):c.2648C>T (p.Pro883Leu) rs771710451 0.00005
NM_020778.5(ALPK3):c.2660C>T (p.Pro887Leu) rs759973437 0.00005
NM_020778.5(ALPK3):c.2833C>T (p.Arg945Trp) rs565789183 0.00005
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu) rs371706327 0.00005
NM_020778.5(ALPK3):c.5027C>G (p.Ala1676Gly) rs150250443 0.00005
NM_020778.5(ALPK3):c.695C>T (p.Ala232Val) rs777917827 0.00005
NC_000015.10:g.84817147G>A rs868375261 0.00004
NM_020778.5(ALPK3):c.-83C>G rs1015886974 0.00004
NM_020778.5(ALPK3):c.2456G>A (p.Arg819Gln) rs116079740 0.00004
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met) rs369383271 0.00004
NM_020778.5(ALPK3):c.2642C>T (p.Ala881Val) rs375943296 0.00004
NM_020778.5(ALPK3):c.3569C>T (p.Thr1190Met) rs368985779 0.00004
NM_020778.5(ALPK3):c.4040C>T (p.Thr1347Ile) rs772261260 0.00004
NM_020778.5(ALPK3):c.4092G>C (p.Glu1364Asp) rs778715401 0.00004
NM_020778.5(ALPK3):c.4469G>A (p.Arg1490Gln) rs752155273 0.00004
NM_020778.5(ALPK3):c.4637G>C (p.Ser1546Thr) rs373750743 0.00004
NM_020778.5(ALPK3):c.595A>G (p.Ser199Gly) rs780267653 0.00004
NM_020778.5(ALPK3):c.655G>A (p.Asp219Asn) rs148244525 0.00004
NM_020778.5(ALPK3):c.716C>T (p.Thr239Ile) rs559342068 0.00004
NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg) rs754238381 0.00003
NM_020778.5(ALPK3):c.1678G>A (p.Ala560Thr) rs369523298 0.00003
NM_020778.5(ALPK3):c.1715C>T (p.Ala572Val) rs373204179 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020778.5(ALPK3):c.1961A>T (p.Asp654Val) rs1027334963 0.00003
NM_020778.5(ALPK3):c.2234C>T (p.Ala745Val) rs142677464 0.00003
NM_020778.5(ALPK3):c.2344G>A (p.Ala782Thr) rs763620385 0.00003
NM_020778.5(ALPK3):c.2482G>A (p.Glu828Lys) rs200846317 0.00003
NM_020778.5(ALPK3):c.2659C>T (p.Pro887Ser) rs147903664 0.00003
NM_020778.5(ALPK3):c.279C>T (p.Asp93=) rs567059923 0.00003
NM_020778.5(ALPK3):c.2849G>A (p.Arg950Gln) rs772259344 0.00003
NM_020778.5(ALPK3):c.344C>T (p.Thr115Met) rs140571556 0.00003
NM_020778.5(ALPK3):c.3701C>T (p.Ala1234Val) rs1009090950 0.00003
NM_020778.5(ALPK3):c.3940C>T (p.Arg1314Cys) rs147819987 0.00003
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His) rs746125587 0.00003
NM_020778.5(ALPK3):c.3951C>T (p.Gly1317=) rs934215303 0.00003
NM_020778.5(ALPK3):c.4184C>G (p.Ser1395Cys) rs192472249 0.00003
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu) rs372818428 0.00003
NM_020778.5(ALPK3):c.4224C>T (p.Ser1408=) rs773522765 0.00003
NM_020778.5(ALPK3):c.4475C>T (p.Ala1492Val) rs538810746 0.00003
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00003
NM_020778.5(ALPK3):c.882A>G (p.Thr294=) rs542316430 0.00003
NM_020778.5(ALPK3):c.895G>A (p.Ala299Thr) rs115195927 0.00003
NM_020778.5(ALPK3):c.1093C>T (p.Gln365Ter) rs773730492 0.00002
NM_020778.5(ALPK3):c.186C>T (p.Ser62=) rs116058119 0.00002
NM_020778.5(ALPK3):c.1916C>T (p.Thr639Met) rs151054715 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_020778.5(ALPK3):c.3733G>A (p.Gly1245Ser) rs773569562 0.00002
NM_020778.5(ALPK3):c.4093+15C>T rs771455330 0.00002
NM_020778.5(ALPK3):c.4096T>A (p.Leu1366Met) rs777438509 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_020778.5(ALPK3):c.4267G>T (p.Ala1423Ser) rs750010018 0.00002
NM_020778.5(ALPK3):c.702C>A (p.Gly234=) rs376896928 0.00002
NC_000015.10:g.84817283C>G rs867053742 0.00001
NC_000015.10:g.84817338C>T rs1963370785 0.00001
NM_020778.5(ALPK3):c.-176C>T rs917686425 0.00001
NM_020778.5(ALPK3):c.1081G>A (p.Val361Met) rs774628152 0.00001
NM_020778.5(ALPK3):c.1286T>C (p.Leu429Pro) rs115200412 0.00001
NM_020778.5(ALPK3):c.1433T>A (p.Phe478Tyr) rs1263109759 0.00001
NM_020778.5(ALPK3):c.1663T>A (p.Cys555Ser) rs777777303 0.00001
NM_020778.5(ALPK3):c.1733C>G (p.Thr578Ser) rs1335330614 0.00001
NM_020778.5(ALPK3):c.182+1G>A rs1963449829 0.00001
NM_020778.5(ALPK3):c.1967G>A (p.Ser656Asn) rs757302796 0.00001
NM_020778.5(ALPK3):c.2299A>G (p.Lys767Glu) rs766147713 0.00001
NM_020778.5(ALPK3):c.2411C>T (p.Pro804Leu) rs762398286 0.00001
NM_020778.5(ALPK3):c.2531C>T (p.Pro844Leu) rs1240384484 0.00001
NM_020778.5(ALPK3):c.2657C>T (p.Thr886Ile) rs1275702908 0.00001
NM_020778.5(ALPK3):c.2702A>G (p.Glu901Gly) rs140378165 0.00001
NM_020778.5(ALPK3):c.2738A>C (p.His913Pro) rs1171103742 0.00001
NM_020778.5(ALPK3):c.2939G>C (p.Gly980Ala) rs201817336 0.00001
NM_020778.5(ALPK3):c.2954G>A (p.Gly985Glu) rs376664318 0.00001
NM_020778.5(ALPK3):c.3086C>A (p.Thr1029Asn) rs1051437969 0.00001
NM_020778.5(ALPK3):c.3315C>T (p.Ala1105=) rs1179803660 0.00001
NM_020778.5(ALPK3):c.3352G>A (p.Ala1118Thr) rs754970719 0.00001
NM_020778.5(ALPK3):c.3629G>A (p.Arg1210Gln) rs776453848 0.00001
NM_020778.5(ALPK3):c.3863C>T (p.Ala1288Val) rs761697260 0.00001
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=) rs188837127 0.00001
NM_020778.5(ALPK3):c.3965+2T>C rs1201826827 0.00001
NM_020778.5(ALPK3):c.3966C>T (p.Ser1322=) rs764601903 0.00001
NM_020778.5(ALPK3):c.4023C>T (p.Cys1341=) rs745724880 0.00001
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter) rs1344615174 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_020778.5(ALPK3):c.4235G>A (p.Arg1412Gln) rs769568552 0.00001
NM_020778.5(ALPK3):c.428G>A (p.Arg143Gln) rs372329290 0.00001
NM_020778.5(ALPK3):c.4365C>G (p.Ser1455Arg) rs1018928368 0.00001
NM_020778.5(ALPK3):c.4406T>C (p.Ile1469Thr) rs991828802 0.00001
NM_020778.5(ALPK3):c.4468C>T (p.Arg1490Trp) rs376691515 0.00001
NM_020778.5(ALPK3):c.4622C>T (p.Pro1541Leu) rs767340370 0.00001
NM_020778.5(ALPK3):c.4648A>G (p.Met1550Val) rs754450238 0.00001
NM_020778.5(ALPK3):c.4768C>T (p.Arg1590Ter) rs541612157 0.00001
NM_020778.5(ALPK3):c.4889C>T (p.Ala1630Val) rs748424712 0.00001
NM_020778.5(ALPK3):c.4948T>C (p.Ser1650Pro) rs537717947 0.00001
NM_020778.5(ALPK3):c.564G>A (p.Lys188=) rs777335669 0.00001
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter) rs370072439 0.00001
NM_020778.5(ALPK3):c.893A>G (p.Asp298Gly) rs201851851 0.00001
NC_000015.10:g.84817022G>T rs756797001
NC_000015.10:g.84817066G>A rs1567084743
NM_020778.4(ALPK3):c.436_440dup5 rs527847958
NM_020778.5(ALPK3):c.-18G>C rs1963372273
NM_020778.5(ALPK3):c.-56_-55delinsCT rs2505688985
NM_020778.5(ALPK3):c.1168G>A (p.Ala390Thr)
NM_020778.5(ALPK3):c.1319G>A (p.Arg440Gln) rs2505706434
NM_020778.5(ALPK3):c.1322C>T (p.Ala441Val) rs559342068
NM_020778.5(ALPK3):c.135_143+12del rs762762408
NM_020778.5(ALPK3):c.1417dup (p.Gln473fs) rs769139957
NM_020778.5(ALPK3):c.1473G>C (p.Glu491Asp) rs1168370877
NM_020778.5(ALPK3):c.1681C>T (p.Pro561Ser) rs200967348
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr) rs150028343
NM_020778.5(ALPK3):c.1688T>G (p.Met563Arg) rs150028343
NM_020778.5(ALPK3):c.1750A>G (p.Ile584Val) rs1407685117
NM_020778.5(ALPK3):c.1848A>G (p.Ile616Met) rs2505719092
NM_020778.5(ALPK3):c.1855G>A (p.Asp619Asn)
NM_020778.5(ALPK3):c.1958C>G (p.Ser653Ter) rs2505719344
NM_020778.5(ALPK3):c.2094G>A (p.Met698Ile) rs1330180462
NM_020778.5(ALPK3):c.2230A>G (p.Thr744Ala) rs754504711
NM_020778.5(ALPK3):c.2244dup (p.Ala749fs) rs2505719933
NM_020778.5(ALPK3):c.2336T>C (p.Val779Ala) rs1180127487
NM_020778.5(ALPK3):c.2357A>G (p.His786Arg) rs756677425
NM_020778.5(ALPK3):c.2407C>T (p.Gln803Ter) rs1555435405
NM_020778.5(ALPK3):c.242C>T (p.Thr81Ile) rs200966727
NM_020778.5(ALPK3):c.2432A>G (p.Glu811Gly) rs2141567846
NM_020778.5(ALPK3):c.2593C>A (p.Pro865Thr) rs1005850234
NM_020778.5(ALPK3):c.2716A>T (p.Met906Leu) rs1249860975
NM_020778.5(ALPK3):c.278A>G (p.Asp93Gly) rs116077141
NM_020778.5(ALPK3):c.2834G>A (p.Arg945Gln) rs377166800
NM_020778.5(ALPK3):c.3015del (p.Ser1007fs) rs2505721119
NM_020778.5(ALPK3):c.3136C>T (p.Arg1046Cys) rs34414438
NM_020778.5(ALPK3):c.3341G>C (p.Arg1114Pro)
NM_020778.5(ALPK3):c.3531C>G (p.Asp1177Glu) rs115438635
NM_020778.5(ALPK3):c.3552A>T (p.Glu1184Asp) rs1567094183
NM_020778.5(ALPK3):c.3568A>G (p.Thr1190Ala) rs942995582
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.3640_3643dup (p.Pro1215fs) rs756970868
NM_020778.5(ALPK3):c.365G>A (p.Gly122Asp) rs1483975709
NM_020778.5(ALPK3):c.3682C>G (p.Arg1228Gly) rs537104966
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp) rs537104966
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs) rs745688425
NM_020778.5(ALPK3):c.3742G>A (p.Asp1248Asn) rs1292054310
NM_020778.5(ALPK3):c.4072G>A (p.Asp1358Asn) rs780843840
NM_020778.5(ALPK3):c.4092G>T (p.Glu1364Asp) rs778715401
NM_020778.5(ALPK3):c.423-19del rs537375112
NM_020778.5(ALPK3):c.423del rs1555434555
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020778.5(ALPK3):c.4723+4C>T rs560395563
NM_020778.5(ALPK3):c.4816C>T (p.Arg1606Trp) rs769796609
NM_020778.5(ALPK3):c.4899C>T (p.Pro1633=) rs143514559
NM_020778.5(ALPK3):c.5065T>G (p.Leu1689Val) rs1445239845
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs) rs2141556264
NM_020778.5(ALPK3):c.61_62delinsT (p.Gly21fs) rs2505689253
NM_020778.5(ALPK3):c.624G>C (p.Gly208=) rs145003820
NM_020778.5(ALPK3):c.62del (p.Gly21fs) rs1250475254
NM_020778.5(ALPK3):c.663_664delinsG (p.Phe221fs)
NM_020778.5(ALPK3):c.669A>T (p.Arg223=) rs1963639188
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter) rs2141556463
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs) rs750622312
NM_020778.5(ALPK3):c.723G>A (p.Glu241=) rs3803406
NM_020778.5(ALPK3):c.987G>C (p.Lys329Asn) rs1303407564

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