ClinVar Miner

Variants with conflicting interpretations studied for Peutz-Jeghers syndrome

Coded as:
Minimum review status of the submission for Peutz-Jeghers syndrome: Collection method of the submission for Peutz-Jeghers syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
1314 415 0 413 165 0 10 549

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
Peutz-Jeghers syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 16 3 0 0
likely pathogenic 16 0 7 0 0
uncertain significance 3 7 0 131 73
likely benign 0 0 131 0 397
benign 0 0 73 397 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
Peutz-Jeghers syndrome 1314 415 0 413 165 0 10 549

All variants with conflicting interpretations #

Total variants: 549
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00584
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00092
NM_000455.5(STK11):c.597+14del rs536282050 0.00068
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00064
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00050
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00043
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000455.5(STK11):c.-137C>T rs527710714 0.00027
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00019
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000455.5(STK11):c.597+8C>T rs565387911 0.00017
NM_000455.5(STK11):c.-461G>A rs552610464 0.00015
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00012
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000455.5(STK11):c.900C>T (p.Ile300=) rs546089394 0.00011
NM_000455.5(STK11):c.920+5G>A rs587780013 0.00011
NM_000455.5(STK11):c.735-9G>A rs201899557 0.00009
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00009
NM_000455.5(STK11):c.-2G>T rs774072752 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) rs759473833 0.00006
NM_000455.5(STK11):c.1257C>T (p.Ser419=) rs375328708 0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu) rs148830698 0.00006
NM_000455.5(STK11):c.734+17C>G rs751929304 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) rs371264852 0.00006
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) rs368547224 0.00005
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) rs587780715 0.00005
NM_000455.5(STK11):c.237C>T (p.Ile79=) rs751859508 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 0.00005
NM_000455.5(STK11):c.374+11C>T rs368923696 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.678C>T (p.Asn226=) rs748832988 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142 0.00004
NM_000455.5(STK11):c.1044C>T (p.Asp348=) rs778274196 0.00004
NM_000455.5(STK11):c.1109-3C>T rs864622219 0.00004
NM_000455.5(STK11):c.1286C>G (p.Ala429Gly) rs757369900 0.00004
NM_000455.5(STK11):c.298C>G (p.Gln100Glu) rs757841535 0.00004
NM_000455.5(STK11):c.42G>A (p.Glu14=) rs758769888 0.00004
NM_000455.5(STK11):c.432G>A (p.Pro144=) rs376788924 0.00004
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00004
NM_000455.5(STK11):c.612C>T (p.Phe204=) rs774100153 0.00004
NM_000455.5(STK11):c.631C>T (p.Arg211Trp) rs185087320 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000455.5(STK11):c.90C>T (p.Asp30=) rs771765869 0.00004
NM_000455.5(STK11):c.1020C>T (p.Tyr340=) rs786202471 0.00003
NM_000455.5(STK11):c.1035C>T (p.His345=) rs751619208 0.00003
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr) rs369744528 0.00003
NM_000455.5(STK11):c.1060T>C (p.Phe354Leu) rs1057520018 0.00003
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) rs587778695 0.00003
NM_000455.5(STK11):c.1100C>T (p.Thr367Met) rs587782835 0.00003
NM_000455.5(STK11):c.1109-5C>T rs587782020 0.00003
NM_000455.5(STK11):c.1130C>T (p.Ala377Val) rs199973552 0.00003
NM_000455.5(STK11):c.1168G>C (p.Val390Leu) rs374078532 0.00003
NM_000455.5(STK11):c.1200G>A (p.Leu400=) rs368661707 0.00003
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln) rs587782364 0.00003
NM_000455.5(STK11):c.1229C>T (p.Ala410Val) rs372329880 0.00003
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser) rs762482152 0.00003
NM_000455.5(STK11):c.1263C>T (p.Ser421=) rs1472814508 0.00003
NM_000455.5(STK11):c.306G>C (p.Leu102=) rs370130178 0.00003
NM_000455.5(STK11):c.316C>T (p.Arg106Trp) rs587782115 0.00003
NM_000455.5(STK11):c.374+9T>A rs762297795 0.00003
NM_000455.5(STK11):c.439C>T (p.Arg147Cys) rs748464757 0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003
NM_000455.5(STK11):c.57G>C (p.Ser19=) rs748698151 0.00003
NM_000455.5(STK11):c.588C>T (p.Gly196=) rs769309428 0.00003
NM_000455.5(STK11):c.601C>T (p.Leu201=) rs1490445170 0.00003
NM_000455.5(STK11):c.613G>A (p.Ala205Thr) rs730881981 0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=) rs532889728 0.00003
NM_000455.5(STK11):c.621C>T (p.Asp207=) rs569380138 0.00003
NM_000455.5(STK11):c.651G>A (p.Pro217=) rs368348370 0.00003
NM_000455.5(STK11):c.827G>T (p.Gly276Val) rs749927908 0.00003
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00003
NM_000455.5(STK11):c.846C>T (p.Leu282=) rs777872290 0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=) rs148928808 0.00003
NM_000455.5(STK11):c.911G>A (p.Arg304Gln) rs376280361 0.00003
NM_000455.5(STK11):c.1029C>T (p.Asp343=) rs1448942333 0.00002
NM_000455.5(STK11):c.1050C>T (p.Asp350=) rs779583262 0.00002
NM_000455.5(STK11):c.1109-14C>T rs780434041 0.00002
NM_000455.5(STK11):c.114G>T (p.Pro38=) rs981179453 0.00002
NM_000455.5(STK11):c.1168G>A (p.Val390Met) rs374078532 0.00002
NM_000455.5(STK11):c.1179C>T (p.Asn393=) rs863224360 0.00002
NM_000455.5(STK11):c.1193C>T (p.Ala398Val) rs768058962 0.00002
NM_000455.5(STK11):c.1278G>A (p.Arg426=) rs201256614 0.00002
NM_000455.5(STK11):c.234G>A (p.Lys78=) rs766658000 0.00002
NM_000455.5(STK11):c.27G>C (p.Leu9=) rs876659432 0.00002
NM_000455.5(STK11):c.310A>G (p.Arg104Gly) rs587782783 0.00002
NM_000455.5(STK11):c.355A>G (p.Asn119Asp) rs545015076 0.00002
NM_000455.5(STK11):c.464+5G>A rs587781681 0.00002
NM_000455.5(STK11):c.552C>T (p.Leu184=) rs587780719 0.00002
NM_000455.5(STK11):c.735C>G (p.Leu245=) rs773147894 0.00002
NM_000455.5(STK11):c.771G>A (p.Gly257=) rs777998890 0.00002
NM_000455.5(STK11):c.801C>T (p.Ile267=) rs539772540 0.00002
NM_000455.5(STK11):c.901C>T (p.Arg301Trp) rs587780012 0.00002
NM_000455.5(STK11):c.921-8G>A rs863224362 0.00002
NM_000455.5(STK11):c.944C>T (p.Pro315Leu) rs766958608 0.00002
NM_000455.5(STK11):c.972G>A (p.Pro324=) rs553474397 0.00002
NM_000455.5(STK11):c.984C>G (p.Thr328=) rs730881965 0.00002
NM_000455.5(STK11):c.*4del rs1235043828 0.00001
NM_000455.5(STK11):c.1011G>A (p.Val337=) rs1555739249 0.00001
NM_000455.5(STK11):c.1012G>A (p.Val338Met) rs587782302 0.00001
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu) rs567896256 0.00001
NM_000455.5(STK11):c.1017G>A (p.Pro339=) rs773049570 0.00001
NM_000455.5(STK11):c.102C>T (p.Val34=) rs1060503784 0.00001
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser) rs375431906 0.00001
NM_000455.5(STK11):c.1040C>T (p.Ala347Val) rs587782058 0.00001
NM_000455.5(STK11):c.1068C>T (p.Ile356=) rs187744790 0.00001
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) rs556651007 0.00001
NM_000455.5(STK11):c.1072G>A (p.Asp358Asn) rs587778696 0.00001
NM_000455.5(STK11):c.108C>T (p.Tyr36=) rs137853079 0.00001
NM_000455.5(STK11):c.1101G>A (p.Thr367=) rs750954647 0.00001
NM_000455.5(STK11):c.1128G>A (p.Glu376=) rs747018506 0.00001
NM_000455.5(STK11):c.1131C>T (p.Ala377=) rs1382505031 0.00001
NM_000455.5(STK11):c.1137C>T (p.His379=) rs786201505 0.00001
NM_000455.5(STK11):c.1139A>G (p.Asn380Ser) rs1247102370 0.00001
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg) rs985937027 0.00001
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys) rs535449626 0.00001
NM_000455.5(STK11):c.1148G>A (p.Arg383His) rs730881990 0.00001
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp) rs752015385 0.00001
NM_000455.5(STK11):c.1164G>A (p.Lys388=) rs786202390 0.00001
NM_000455.5(STK11):c.1167C>G (p.Ala389=) rs547919101 0.00001
NM_000455.5(STK11):c.1173T>C (p.Cys391=) rs1229258407 0.00001
NM_000455.5(STK11):c.1174A>G (p.Met392Val) rs565993396 0.00001
NM_000455.5(STK11):c.1182C>T (p.Gly394=) rs376679847 0.00001
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser) rs587780008 0.00001
NM_000455.5(STK11):c.1190C>T (p.Ala397Val) rs558040549 0.00001
NM_000455.5(STK11):c.1195C>A (p.Gln399Lys) rs1060499968 0.00001
NM_000455.5(STK11):c.1203C>T (p.Ser401=) rs764876761 0.00001
NM_000455.5(STK11):c.1206C>A (p.Thr402=) rs758129211 0.00001
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg) rs587781633 0.00001
NM_000455.5(STK11):c.1217C>T (p.Ala406Val) rs748202003 0.00001
NM_000455.5(STK11):c.1218G>A (p.Ala406=) rs769772524 0.00001
NM_000455.5(STK11):c.1222G>A (p.Gly408Ser) rs749463771 0.00001
NM_000455.5(STK11):c.1231C>G (p.Pro411Ala) rs772527201 0.00001
NM_000455.5(STK11):c.1245C>T (p.Arg415=) rs878853985 0.00001
NM_000455.5(STK11):c.1247A>G (p.Lys416Arg) rs1446554442 0.00001
NM_000455.5(STK11):c.1251C>T (p.Ala417=) rs1060503786 0.00001
NM_000455.5(STK11):c.1274G>A (p.Arg425His) rs730881992 0.00001
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp) rs587782687 0.00001
NM_000455.5(STK11):c.1283C>T (p.Ser428Leu) rs587781537 0.00001
NM_000455.5(STK11):c.135C>T (p.Leu45=) rs1362065365 0.00001
NM_000455.5(STK11):c.147C>T (p.Tyr49=) rs751949296 0.00001
NM_000455.5(STK11):c.151A>C (p.Met51Leu) rs730881986 0.00001
NM_000455.5(STK11):c.15C>T (p.Asp5=) rs786201498 0.00001
NM_000455.5(STK11):c.160C>T (p.Leu54=) rs755390787 0.00001
NM_000455.5(STK11):c.163C>T (p.Leu55=) rs1057520869 0.00001
NM_000455.5(STK11):c.180C>T (p.Tyr60=) rs778376925 0.00001
NM_000455.5(STK11):c.186G>A (p.Lys62=) rs1215771465 0.00001
NM_000455.5(STK11):c.207G>T (p.Ser69=) rs746735912 0.00001
NM_000455.5(STK11):c.214C>T (p.Leu72=) rs776369486 0.00001
NM_000455.5(STK11):c.216G>A (p.Leu72=) rs1057524353 0.00001
NM_000455.5(STK11):c.219C>T (p.Cys73=) rs761825242 0.00001
NM_000455.5(STK11):c.225G>A (p.Arg75=) rs786203886 0.00001
NM_000455.5(STK11):c.231C>G (p.Val77=) rs1438805544 0.00001
NM_000455.5(STK11):c.243G>A (p.Lys81=) rs961970080 0.00001
NM_000455.5(STK11):c.246G>A (p.Lys82=) rs759751510 0.00001
NM_000455.5(STK11):c.249G>A (p.Lys83=) rs1400078073 0.00001
NM_000455.5(STK11):c.252G>A (p.Lys84=) rs1320808027 0.00001
NM_000455.5(STK11):c.267C>T (p.Pro89=) rs778290623 0.00001
NM_000455.5(STK11):c.279C>G (p.Ala93=) rs786201852 0.00001
NM_000455.5(STK11):c.300A>G (p.Gln100=) rs765890997 0.00001
NM_000455.5(STK11):c.310A>T (p.Arg104Trp) rs587782783 0.00001
NM_000455.5(STK11):c.312G>A (p.Arg104=) rs780749732 0.00001
NM_000455.5(STK11):c.317G>A (p.Arg106Gln) rs375622587 0.00001
NM_000455.5(STK11):c.318G>A (p.Arg106=) rs777784520 0.00001
NM_000455.5(STK11):c.321C>T (p.His107=) rs878853987 0.00001
NM_000455.5(STK11):c.327T>C (p.Asn109=) rs749251218 0.00001
NM_000455.5(STK11):c.333C>T (p.Ile111=) rs1555737428 0.00001
NM_000455.5(STK11):c.342G>A (p.Val114=) rs1441012455 0.00001
NM_000455.5(STK11):c.348G>T (p.Val116=) rs774482643 0.00001
NM_000455.5(STK11):c.396C>T (p.Cys132=) rs730881969 0.00001
NM_000455.5(STK11):c.39G>A (p.Thr13=) rs765330434 0.00001
NM_000455.5(STK11):c.414A>G (p.Glu138=) rs1045257509 0.00001
NM_000455.5(STK11):c.427G>A (p.Val143Met) rs779987540 0.00001
NM_000455.5(STK11):c.434A>G (p.Glu145Gly) rs369764220 0.00001
NM_000455.5(STK11):c.440G>A (p.Arg147His) rs587780717 0.00001
NM_000455.5(STK11):c.441T>C (p.Arg147=) rs786201456 0.00001
NM_000455.5(STK11):c.444C>T (p.Phe148=) rs1283208395 0.00001
NM_000455.5(STK11):c.447A>G (p.Pro149=) rs587780718 0.00001
NM_000455.5(STK11):c.449T>C (p.Val150Ala) rs587781802 0.00001
NM_000455.5(STK11):c.45C>T (p.Gly15=) rs786201234 0.00001
NM_000455.5(STK11):c.462C>T (p.His154=) rs786201418 0.00001
NM_000455.5(STK11):c.464+15C>T rs1057521355 0.00001
NM_000455.5(STK11):c.464+3G>A rs1060499956 0.00001
NM_000455.5(STK11):c.464+4C>T rs373167735 0.00001
NM_000455.5(STK11):c.465-10C>G rs1060503780 0.00001
NM_000455.5(STK11):c.465-17G>A rs761361803 0.00001
NM_000455.5(STK11):c.465-8G>A rs878853990 0.00001
NM_000455.5(STK11):c.468C>T (p.Tyr156=) rs786201349 0.00001
NM_000455.5(STK11):c.471C>T (p.Phe157=) rs766257141 0.00001
NM_000455.5(STK11):c.480G>T (p.Leu160=) rs1176365465 0.00001
NM_000455.5(STK11):c.48G>A (p.Glu16=) rs969419908 0.00001
NM_000455.5(STK11):c.504T>C (p.His168=) rs754986576 0.00001
NM_000455.5(STK11):c.51G>T (p.Leu17=) rs747435838 0.00001
NM_000455.5(STK11):c.534G>A (p.Lys178=) rs560461444 0.00001
NM_000455.5(STK11):c.555C>G (p.Thr185=) rs1060503781 0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032 0.00001
NM_000455.5(STK11):c.576C>T (p.Ile192=) rs878853991 0.00001
NM_000455.5(STK11):c.579C>T (p.Ser193=) rs730881961 0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=) rs772940660 0.00001
NM_000455.5(STK11):c.609G>A (p.Pro203=) rs786201228 0.00001
NM_000455.5(STK11):c.614C>T (p.Ala205Val) rs587782468 0.00001
NM_000455.5(STK11):c.617C>T (p.Ala206Val) rs764244639 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000455.5(STK11):c.648C>T (p.Ser216=) rs376083300 0.00001
NM_000455.5(STK11):c.657C>T (p.Phe219=) rs1326889544 0.00001
NM_000455.5(STK11):c.663G>A (p.Pro221=) rs587780720 0.00001
NM_000455.5(STK11):c.663G>T (p.Pro221=) rs587780720 0.00001
NM_000455.5(STK11):c.687C>T (p.Asp229=) rs770545562 0.00001
NM_000455.5(STK11):c.696C>T (p.Ser232=) rs566823619 0.00001
NM_000455.5(STK11):c.69C>T (p.Asp23=) rs1599914867 0.00001
NM_000455.5(STK11):c.6G>A (p.Glu2=) rs1271482574 0.00001
NM_000455.5(STK11):c.71C>T (p.Thr24Met) rs770503805 0.00001
NM_000455.5(STK11):c.720G>A (p.Ser240=) rs759743897 0.00001
NM_000455.5(STK11):c.726G>A (p.Gly242=) rs776823114 0.00001
NM_000455.5(STK11):c.750G>A (p.Thr250=) rs748112446 0.00001
NM_000455.5(STK11):c.765C>T (p.Phe255=) rs769912677 0.00001
NM_000455.5(STK11):c.789G>A (p.Leu263=) rs1555738654 0.00001
NM_000455.5(STK11):c.810G>C (p.Gly270=) rs1297520176 0.00001
NM_000455.5(STK11):c.817G>A (p.Ala273Thr) rs587782199 0.00001
NM_000455.5(STK11):c.837C>T (p.Gly279=) rs373021819 0.00001
NM_000455.5(STK11):c.841C>A (p.Pro281Thr) rs377208033 0.00001
NM_000455.5(STK11):c.843G>A (p.Pro281=) rs756095270 0.00001
NM_000455.5(STK11):c.846C>G (p.Leu282=) rs777872290 0.00001
NM_000455.5(STK11):c.84C>T (p.Arg28=) rs778468876 0.00001
NM_000455.5(STK11):c.879A>G (p.Glu293=) rs2080787486 0.00001
NM_000455.5(STK11):c.882G>A (p.Pro294=) rs587781178 0.00001
NM_000455.5(STK11):c.897C>T (p.Ser299=) rs769013935 0.00001
NM_000455.5(STK11):c.902G>A (p.Arg301Gln) rs370222210 0.00001
NM_000455.5(STK11):c.921-9C>T rs761688641 0.00001
NM_000455.5(STK11):c.936A>G (p.Lys312=) rs786201739 0.00001
NM_000455.5(STK11):c.947C>G (p.Ala316Gly) rs751709130 0.00001
NM_000455.5(STK11):c.94A>G (p.Thr32Ala) rs755210880 0.00001
NM_000455.5(STK11):c.957A>G (p.Pro319=) rs755126393 0.00001
NM_000455.5(STK11):c.960G>A (p.Val320=) rs752961535 0.00001
NM_000455.5(STK11):c.963C>T (p.Pro321=) rs878853993 0.00001
NM_000455.5(STK11):c.969A>G (p.Pro323=) rs1399205535 0.00001
NM_000455.5(STK11):c.976C>A (p.Pro326Thr) rs771632414 0.00001
NM_000455.5(STK11):c.981C>T (p.Asp327=) rs2080796456 0.00001
NM_000455.5(STK11):c.*6G>A rs1057523753
NM_000455.5(STK11):c.-107dup rs927999961
NM_000455.5(STK11):c.1002C>T (p.Ser334=) rs1057521267
NM_000455.5(STK11):c.1008T>C (p.Thr336=) rs878853981
NM_000455.5(STK11):c.1014G>A (p.Val338=) rs375462277
NM_000455.5(STK11):c.1017G>C (p.Pro339=) rs773049570
NM_000455.5(STK11):c.1026G>A (p.Glu342=) rs1195673013
NM_000455.5(STK11):c.102C>G (p.Val34=) rs1060503784
NM_000455.5(STK11):c.1030C>T (p.Leu344=) rs2145431096
NM_000455.5(STK11):c.1032G>A (p.Leu344=) rs371928158
NM_000455.5(STK11):c.1042del (p.Asp348fs) rs2512949158
NM_000455.5(STK11):c.1047G>A (p.Glu349=) rs2080797337
NM_000455.5(STK11):c.1056C>T (p.Asp352=) rs768217700
NM_000455.5(STK11):c.1059C>T (p.Leu353=) rs757771824
NM_000455.5(STK11):c.105C>A (p.Ile35=) rs1060503783
NM_000455.5(STK11):c.105C>T (p.Ile35=) rs1060503783
NM_000455.5(STK11):c.1062C>T (p.Phe354=) rs59912467
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn) rs769403473
NM_000455.5(STK11):c.1065C>T (p.Asp355=) rs577581156
NM_000455.5(STK11):c.1068C>A (p.Ile356=) rs187744790
NM_000455.5(STK11):c.1068C>G (p.Ile356Met) rs187744790
NM_000455.5(STK11):c.1071G>A (p.Glu357=) rs556651007
NM_000455.5(STK11):c.1077C>T (p.Asp359=) rs1321578734
NM_000455.5(STK11):c.1080C>T (p.Ile360=) rs2145431392
NM_000455.5(STK11):c.1086C>T (p.Tyr362=) rs2145431412
NM_000455.5(STK11):c.1089T>C (p.Thr363=) rs876658309
NM_000455.5(STK11):c.1092G>A (p.Gln364=) rs1555739339
NM_000455.5(STK11):c.1098C>T (p.Phe366=) rs2080798043
NM_000455.5(STK11):c.1109-16_1109-15delinsTG rs2512954543
NM_000455.5(STK11):c.1109-4C>A rs1407794756
NM_000455.5(STK11):c.1109-7C>G rs922706582
NM_000455.5(STK11):c.1113G>A (p.Gln371=) rs587780714
NM_000455.5(STK11):c.1122A>G (p.Glu374=) rs1599932051
NM_000455.5(STK11):c.1129G>C (p.Ala377Pro) rs768870802
NM_000455.5(STK11):c.1134T>C (p.Ser378=)
NM_000455.5(STK11):c.1140T>C (p.Asn380=) rs1057521658
NM_000455.5(STK11):c.1149C>T (p.Arg383=) rs2145435963
NM_000455.5(STK11):c.1152G>A (p.Arg384=) rs786201491
NM_000455.5(STK11):c.1152G>T (p.Arg384=) rs786201491
NM_000455.5(STK11):c.1155C>T (p.Gly385=) rs2145435988
NM_000455.5(STK11):c.1161C>A (p.Pro387=) rs1427783283
NM_000455.5(STK11):c.1167C>T (p.Ala389=) rs547919101
NM_000455.5(STK11):c.1170G>A (p.Val390=) rs367911165
NM_000455.5(STK11):c.117C>G (p.Arg39=) rs786203942
NM_000455.5(STK11):c.117C>T (p.Arg39=) rs786203942
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser) rs768780695
NM_000455.5(STK11):c.1191G>A (p.Ala397=) rs774759899
NM_000455.5(STK11):c.1191G>C (p.Ala397=) rs774759899
NM_000455.5(STK11):c.1191G>T (p.Ala397=) rs774759899
NM_000455.5(STK11):c.1194G>T (p.Ala398=) rs184271025
NM_000455.5(STK11):c.1206C>T (p.Thr402=) rs758129211
NM_000455.5(STK11):c.120C>T (p.Arg40=) rs878853984
NM_000455.5(STK11):c.1212C>A (p.Ser404=) rs754945004
NM_000455.5(STK11):c.1212C>T (p.Ser404=) rs754945004
NM_000455.5(STK11):c.1215G>A (p.Arg405=) rs781303270
NM_000455.5(STK11):c.1218G>C (p.Ala406=) rs769772524
NM_000455.5(STK11):c.1224C>T (p.Gly408=) rs1555740206
NM_000455.5(STK11):c.1225C>A (p.Arg409=) rs368466538
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.1230C>A (p.Ala410=) rs864622171
NM_000455.5(STK11):c.1230C>T (p.Ala410=) rs864622171
NM_000455.5(STK11):c.1236C>T (p.Asn412=) rs1158714606
NM_000455.5(STK11):c.1239T>A (p.Pro413=) rs786201330
NM_000455.5(STK11):c.1239T>C (p.Pro413=) rs786201330
NM_000455.5(STK11):c.1242C>T (p.Ala414=) rs2512955209
NM_000455.5(STK11):c.1243C>G (p.Arg415Gly) rs864622448
NM_000455.5(STK11):c.1244G>A (p.Arg415His) rs775978755
NM_000455.5(STK11):c.1245C>A (p.Arg415=) rs878853985
NM_000455.5(STK11):c.1248G>A (p.Lys416=)
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser) rs730881991
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser) rs878853986
NM_000455.5(STK11):c.1260C>A (p.Ala420=) rs2145436473
NM_000455.5(STK11):c.1266C>T (p.Ser422=) rs751352435
NM_000455.5(STK11):c.1272C>A (p.Ile424=) rs2145436544
NM_000455.5(STK11):c.1272C>T (p.Ile424=) rs2145436544
NM_000455.5(STK11):c.1275C>T (p.Arg425=) rs2145436556
NM_000455.5(STK11):c.1276C>A (p.Arg426=) rs587782687
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly) rs587782687
NM_000455.5(STK11):c.1279C>T (p.Leu427=) rs1222940657
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp) rs587781537
NM_000455.5(STK11):c.1284G>C (p.Ser428=) rs369097329
NM_000455.5(STK11):c.1284G>T (p.Ser428=) rs369097329
NM_000455.5(STK11):c.1293G>A (p.Lys431=) rs1060503787
NM_000455.5(STK11):c.129C>G (p.Ala43=) rs1555734970
NM_000455.5(STK11):c.12G>A (p.Val4=) rs1379886566
NM_000455.5(STK11):c.138C>T (p.Ile46=) rs2080671593
NM_000455.5(STK11):c.141dup (p.Lys48fs) rs2145405118
NM_000455.5(STK11):c.156G>A (p.Gly52=) rs1060499953
NM_000455.5(STK11):c.156G>T (p.Gly52=) rs1060499953
NM_000455.5(STK11):c.159C>T (p.Asp53=) rs876660426
NM_000455.5(STK11):c.169dup (p.Glu57fs) rs121913319
NM_000455.5(STK11):c.171A>G (p.Glu57=) rs1060503785
NM_000455.5(STK11):c.183C>T (p.Gly61=) rs2512921322
NM_000455.5(STK11):c.189G>A (p.Val63=) rs1342321548
NM_000455.5(STK11):c.18G>C (p.Pro6=) rs1555734869
NM_000455.5(STK11):c.192G>A (p.Lys64=) rs2145405404
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.204C>T (p.Asp68=) rs1337286592
NM_000455.5(STK11):c.207G>A (p.Ser69=) rs746735912
NM_000455.5(STK11):c.213G>A (p.Thr71=)
NM_000455.5(STK11):c.213G>C (p.Thr71=) rs768532101
NM_000455.5(STK11):c.216G>T (p.Leu72=) rs1057524353
NM_000455.5(STK11):c.21G>A (p.Gln7=)
NM_000455.5(STK11):c.223A>C (p.Arg75=) rs1599915199
NM_000455.5(STK11):c.228C>T (p.Ala76=) rs763166927
NM_000455.5(STK11):c.237C>A (p.Ile79=) rs751859508
NM_000455.5(STK11):c.240C>T (p.Leu80=) rs2145405739
NM_000455.5(STK11):c.248A>G (p.Lys83Arg) rs374006397
NM_000455.5(STK11):c.24G>A (p.Gln8=) rs1379630288
NM_000455.5(STK11):c.255G>A (p.Leu85=) rs1599915264
NM_000455.5(STK11):c.258A>G (p.Arg86=) rs2145405874
NM_000455.5(STK11):c.264C>T (p.Ile88=) rs56354945
NM_000455.5(STK11):c.270C>T (p.Asn90=) rs1555735064
NM_000455.5(STK11):c.273G>A (p.Gly91=) rs1244118815
NM_000455.5(STK11):c.27G>A (p.Leu9=) rs876659432
NM_000455.5(STK11):c.285G>T (p.Val95=) rs1354586362
NM_000455.5(STK11):c.288G>A (p.Lys96=) rs1599915310
NM_000455.5(STK11):c.301C>T (p.Leu101=) rs587780716
NM_000455.5(STK11):c.303A>G (p.Leu101=) rs1057522543
NM_000455.5(STK11):c.304C>T (p.Leu102=) rs1364363777
NM_000455.5(STK11):c.306G>T (p.Leu102=) rs370130178
NM_000455.5(STK11):c.309G>A (p.Arg103=) rs2145420591
NM_000455.5(STK11):c.30C>T (p.Gly10=) rs876660012
NM_000455.5(STK11):c.318G>C (p.Arg106=) rs777784520
NM_000455.5(STK11):c.318G>T (p.Arg106=) rs777784520
NM_000455.5(STK11):c.329T>A (p.Val110Asp) rs2145420687
NM_000455.5(STK11):c.330C>A (p.Val110=) rs368548358
NM_000455.5(STK11):c.330C>T (p.Val110=) rs368548358
NM_000455.5(STK11):c.339G>A (p.Leu113=) rs2145420721
NM_000455.5(STK11):c.345T>C (p.Asp115=) rs2145420737
NM_000455.5(STK11):c.348G>C (p.Val116=) rs774482643
NM_000455.5(STK11):c.351A>G (p.Leu117=) rs2080758837
NM_000455.5(STK11):c.354C>T (p.Tyr118=) rs1555737439
NM_000455.5(STK11):c.358G>T (p.Glu120Ter) rs775595174
NM_000455.5(STK11):c.363G>A (p.Glu121=) rs864622574
NM_000455.5(STK11):c.36C>T (p.Phe12=) rs2145404533
NM_000455.5(STK11):c.374+2T>C rs1555737480
NM_000455.5(STK11):c.375-13C>T rs1568705244
NM_000455.5(STK11):c.375-5C>T rs1057517626
NM_000455.5(STK11):c.384G>C (p.Val128=) rs1599925298
NM_000455.5(STK11):c.393C>T (p.Tyr131=) rs760399253
NM_000455.5(STK11):c.399G>A (p.Val133=) rs757021648
NM_000455.5(STK11):c.399G>T (p.Val133=) rs757021648
NM_000455.5(STK11):c.402T>C (p.Cys134=) rs778868074
NM_000455.5(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.5(STK11):c.418_420del (p.Leu140del) rs1599925362
NM_000455.5(STK11):c.432G>T (p.Pro144=) rs376788924
NM_000455.5(STK11):c.435G>A (p.Glu145=) rs1555737810
NM_000455.5(STK11):c.450G>A (p.Val150=) rs1555737821
NM_000455.5(STK11):c.456G>A (p.Gln152=) rs1599925457
NM_000455.5(STK11):c.458C>A (p.Ala153Asp) rs1555737824
NM_000455.5(STK11):c.459C>T (p.Ala153=) rs1191357643
NM_000455.5(STK11):c.464+14G>A rs587782421
NM_000455.5(STK11):c.464+20del rs730881960
NM_000455.5(STK11):c.464G>A (p.Gly155Glu) rs1555737830
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.480G>A (p.Leu160=)
NM_000455.5(STK11):c.486C>T (p.Asp162=) rs1269329328
NM_000455.5(STK11):c.489C>T (p.Gly163=) rs1060499959
NM_000455.5(STK11):c.490C>T (p.Leu164=) rs2080774116
NM_000455.5(STK11):c.492G>A (p.Leu164=) rs2145424221
NM_000455.5(STK11):c.500T>C (p.Leu167Pro)
NM_000455.5(STK11):c.513C>T (p.Gly171=) rs2145424303
NM_000455.5(STK11):c.516T>C (p.Ile172=) rs1599926504
NM_000455.5(STK11):c.519G>A (p.Val173=) rs2145424320
NM_000455.5(STK11):c.51G>A (p.Leu17=) rs747435838
NM_000455.5(STK11):c.525G>A (p.Lys175=)
NM_000455.5(STK11):c.528C>T (p.Asp176=) rs876658393
NM_000455.5(STK11):c.531C>T (p.Ile177=) rs1264449076
NM_000455.5(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.5(STK11):c.537G>T (p.Pro179=) rs528535500
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.543C>G (p.Asn181Lys) rs730881973
NM_000455.5(STK11):c.544C>T (p.Leu182=) rs1057522875
NM_000455.5(STK11):c.547C>T (p.Leu183=) rs2145424469
NM_000455.5(STK11):c.549G>A (p.Leu183=) rs1446789323
NM_000455.5(STK11):c.555C>T (p.Thr185=) rs1060503781
NM_000455.5(STK11):c.558C>A (p.Thr186=) rs749563734
NM_000455.5(STK11):c.558C>G (p.Thr186=) rs749563734
NM_000455.5(STK11):c.558C>T (p.Thr186=) rs749563734
NM_000455.5(STK11):c.564C>T (p.Gly188=) rs786201344
NM_000455.5(STK11):c.567C>T (p.Thr189=) rs2145424574
NM_000455.5(STK11):c.570C>G (p.Leu190=) rs937650956
NM_000455.5(STK11):c.570C>T (p.Leu190=) rs937650956
NM_000455.5(STK11):c.579C>A (p.Ser193=) rs730881961
NM_000455.5(STK11):c.57G>A (p.Ser19=) rs748698151
NM_000455.5(STK11):c.57G>T (p.Ser19=) rs748698151
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.582C>T (p.Asp194=) rs786202134
NM_000455.5(STK11):c.583C>T (p.Leu195=) rs1555738276
NM_000455.5(STK11):c.585G>A (p.Leu195=) rs2080775062
NM_000455.5(STK11):c.597+10_597+11insCTAG
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000455.5(STK11):c.598-11C>T rs587782431
NM_000455.5(STK11):c.603G>A (p.Leu201=) rs1599926767
NM_000455.5(STK11):c.603G>T (p.Leu201=)
NM_000455.5(STK11):c.609G>C (p.Pro203=) rs786201228
NM_000455.5(STK11):c.609G>T (p.Pro203=) rs786201228
NM_000455.5(STK11):c.618G>C (p.Ala206=) rs370976710
NM_000455.5(STK11):c.618G>T (p.Ala206=) rs370976710
NM_000455.5(STK11):c.630C>T (p.Cys210=) rs786201213
NM_000455.5(STK11):c.639C>T (p.Ser213=) rs1555738391
NM_000455.5(STK11):c.645C>G (p.Gly215=) rs1599926859
NM_000455.5(STK11):c.648C>A (p.Ser216=) rs376083300
NM_000455.5(STK11):c.654T>A (p.Ala218=) rs2145425219
NM_000455.5(STK11):c.666C>G (p.Pro222=) rs542189325
NM_000455.5(STK11):c.672T>A (p.Ile224=) rs1230000936
NM_000455.5(STK11):c.675C>T (p.Ala225=) rs1599926917
NM_000455.5(STK11):c.682C>T (p.Leu228=) rs1599926930
NM_000455.5(STK11):c.684G>A (p.Leu228=) rs1599926937
NM_000455.5(STK11):c.690C>T (p.Thr230=) rs1057520971
NM_000455.5(STK11):c.693C>T (p.Phe231=) rs1568708275
NM_000455.5(STK11):c.699C>G (p.Gly233=) rs1490687998
NM_000455.5(STK11):c.702C>T (p.Phe234=) rs1555738452
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr) rs878853247
NM_000455.5(STK11):c.720G>T (p.Ser240=) rs759743897
NM_000455.5(STK11):c.721G>A (p.Ala241Thr) rs587780721
NM_000455.5(STK11):c.726G>T (p.Gly242=) rs776823114
NM_000455.5(STK11):c.729C>A (p.Val243=) rs2145425531
NM_000455.5(STK11):c.72G>A (p.Thr24=) rs2145404738
NM_000455.5(STK11):c.732C>T (p.Thr244=) rs1461624637
NM_000455.5(STK11):c.734+19dup rs730881962
NM_000455.5(STK11):c.734+1G>T rs587782018
NM_000455.5(STK11):c.735-12C>G rs764712846
NM_000455.5(STK11):c.735-16_735-15del rs775965325
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.735-6_735-2del rs759090799
NM_000455.5(STK11):c.738C>T (p.Tyr246=) rs137853083
NM_000455.5(STK11):c.741C>T (p.Asn247=) rs754761142
NM_000455.5(STK11):c.747C>T (p.Thr249=) rs759546076
NM_000455.5(STK11):c.754C>T (p.Leu252=) rs1363669559
NM_000455.5(STK11):c.756G>A (p.Leu252=) rs786201544
NM_000455.5(STK11):c.759C>T (p.Tyr253=) rs137853075
NM_000455.5(STK11):c.75C>T (p.Phe25=) rs1466484547
NM_000455.5(STK11):c.762C>G (p.Pro254=) rs1555738623
NM_000455.5(STK11):c.762C>T (p.Pro254=) rs1555738623
NM_000455.5(STK11):c.771G>C (p.Gly257=) rs777998890
NM_000455.5(STK11):c.777C>T (p.Asn259=) rs786201105
NM_000455.5(STK11):c.780C>T (p.Ile260=) rs876658493
NM_000455.5(STK11):c.783C>T (p.Tyr261=) rs1555738647
NM_000455.5(STK11):c.792T>C (p.Phe264=) rs1599927625
NM_000455.5(STK11):c.807G>A (p.Lys269=) rs1057523146
NM_000455.5(STK11):c.810G>T (p.Gly270=)
NM_000455.5(STK11):c.825G>T (p.Pro275=) rs202011521
NM_000455.5(STK11):c.828C>A (p.Gly276=) rs200824447
NM_000455.5(STK11):c.837C>A (p.Gly279=) rs373021819
NM_000455.5(STK11):c.837C>G (p.Gly279=) rs373021819
NM_000455.5(STK11):c.840C>A (p.Pro280=) rs1471868090
NM_000455.5(STK11):c.840C>T (p.Pro280=) rs1471868090
NM_000455.5(STK11):c.842C>A (p.Pro281Gln) rs121913322
NM_000455.5(STK11):c.849T>C (p.Ser283=) rs876658659
NM_000455.5(STK11):c.852C>T (p.Asp284=) rs2145427244
NM_000455.5(STK11):c.853C>T (p.Leu285=) rs749344634
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) rs1555738724
NM_000455.5(STK11):c.855G>A (p.Leu285=) rs1599927757
NM_000455.5(STK11):c.855G>C (p.Leu285=) rs1599927757
NM_000455.5(STK11):c.856C>T (p.Leu286=) rs2145427271
NM_000455.5(STK11):c.862+3G>A rs2145427312
NM_000455.5(STK11):c.862+4G>A rs1555738736
NM_000455.5(STK11):c.863-14C>G rs756001994
NM_000455.5(STK11):c.863-1G>C rs863224448
NM_000455.5(STK11):c.863-3C>T rs1599928254
NM_000455.5(STK11):c.863-5C>T rs1599928248
NM_000455.5(STK11):c.863-5_863-3del rs764739106
NM_000455.5(STK11):c.864G>A (p.Gly288=) rs2080787350
NM_000455.5(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000455.5(STK11):c.870T>G (p.Leu290=) rs876660056
NM_000455.5(STK11):c.87C>T (p.Ile29=) rs745530022
NM_000455.5(STK11):c.889A>C (p.Arg297=) rs730881978
NM_000455.5(STK11):c.894C>G (p.Phe298Leu) rs199681533
NM_000455.5(STK11):c.898ATCCGGCAG[1] (p.300IRQ[1]) rs2145428787
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.911G>C (p.Arg304Pro) rs376280361
NM_000455.5(STK11):c.915G>A (p.Gln305=) rs1297148927
NM_000455.5(STK11):c.920+1G>A rs1131690920
NM_000455.5(STK11):c.920+7G>A rs2075607
NM_000455.5(STK11):c.920+7_920+8delinsCA rs1057517545
NM_000455.5(STK11):c.921-1G>C rs398123406
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) rs864622488
NM_000455.5(STK11):c.930G>A (p.Arg310=) rs2080795732
NM_000455.5(STK11):c.930G>C (p.Arg310=) rs2080795732
NM_000455.5(STK11):c.933G>A (p.Lys311=) rs1409790643
NM_000455.5(STK11):c.93C>A (p.Ser31=) rs775258601
NM_000455.5(STK11):c.93C>T (p.Ser31=) rs775258601
NM_000455.5(STK11):c.942T>C (p.Pro314=) rs1256260277
NM_000455.5(STK11):c.945G>T (p.Pro315=) rs376329042
NM_000455.5(STK11):c.951A>G (p.Glu317=) rs2145430729
NM_000455.5(STK11):c.954A>C (p.Ala318=) rs1555739188
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000455.5(STK11):c.96C>T (p.Thr32=) rs79175212
NM_000455.5(STK11):c.978A>G (p.Pro326=) rs1555739204
NM_000455.5(STK11):c.987G>A (p.Lys329=) rs1555739210
NM_000455.5(STK11):c.990C>T (p.Asp330=) rs786201811
NM_000455.5(STK11):c.993G>A (p.Arg331=) rs1599929398
NM_000455.5(STK11):c.999C>T (p.Arg333=)
NM_000455.5(STK11):c.99G>A (p.Glu33=) rs863224363
NM_000455.5(STK11):c.9G>A (p.Val3=) rs1555734857

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