ClinVar Miner

List of variants in gene TPM1 studied for Hypertrophic cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 577
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.65141
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.04876
NM_001018004.2(TPM1):c.*119T>C rs138843544 0.02433
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NC_000015.10:g.63042624G>A rs17525848 0.00111
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00042
NM_001018005.2(TPM1):c.851+6C>T rs375043184 0.00029
NM_001018005.2(TPM1):c.177A>G (p.Lys59=) rs149346709 0.00028
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00027
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00020
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00013
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018005.2(TPM1):c.563+12C>T rs756230680 0.00009
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) rs149659674 0.00009
NM_001018005.2(TPM1):c.564-11G>A rs532254032 0.00007
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018005.2(TPM1):c.493-18T>G rs377726678 0.00006
NM_001018005.2(TPM1):c.563+7G>A rs374563216 0.00006
NM_001018005.2(TPM1):c.249C>T (p.Ala83=) rs200257214 0.00005
NM_001018005.2(TPM1):c.687C>T (p.Ser229=) rs759362606 0.00004
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=) rs751001221 0.00004
NM_001018005.2(TPM1):c.851+7G>A rs765721221 0.00004
NM_001018005.2(TPM1):c.-48C>T rs747523720 0.00003
NM_001018005.2(TPM1):c.241-8C>T rs765893032 0.00003
NM_001018005.2(TPM1):c.474C>T (p.Ala158=) rs143922069 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001018005.2(TPM1):c.549T>C (p.Ala183=) rs199476313 0.00003
NM_001018005.2(TPM1):c.563+16G>A rs375227208 0.00003
NM_001018005.2(TPM1):c.564-12C>T rs113591254 0.00003
NM_001018005.2(TPM1):c.564-19C>G rs377379254 0.00003
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001018005.2(TPM1):c.240+11G>A rs367999295 0.00002
NM_001018005.2(TPM1):c.31C>T (p.Leu11=) rs766883758 0.00002
NM_001018005.2(TPM1):c.563+13G>A rs777902231 0.00002
NM_001018005.2(TPM1):c.563+15C>T rs368177044 0.00002
NM_001018005.2(TPM1):c.564-5A>G rs550286836 0.00002
NM_001018005.2(TPM1):c.645G>A (p.Ser215=) rs773403386 0.00002
NM_001018005.2(TPM1):c.663T>C (p.Tyr221=) rs774859181 0.00002
NM_001018005.2(TPM1):c.773-5C>T rs754213660 0.00002
NM_001018005.2(TPM1):c.828C>T (p.His276=) rs368813394 0.00002
NM_001018005.2(TPM1):c.841A>G (p.Met281Val) rs397516394 0.00002
NM_001018005.2(TPM1):c.852A>G (p.Ile284Met) rs759481997 0.00002
NM_001018005.2(TPM1):c.-13C>A rs1257687404 0.00001
NM_001018005.2(TPM1):c.104G>C (p.Arg35Thr) rs730881152 0.00001
NM_001018005.2(TPM1):c.105G>A (p.Arg35=) rs1448738061 0.00001
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly) rs1566936237 0.00001
NM_001018005.2(TPM1):c.114+15G>T rs552212991 0.00001
NM_001018005.2(TPM1):c.114+16G>C rs1304088652 0.00001
NM_001018005.2(TPM1):c.114+18C>A rs1442521579 0.00001
NM_001018005.2(TPM1):c.114+20T>G rs1323551574 0.00001
NM_001018005.2(TPM1):c.114+3C>T rs112677344 0.00001
NM_001018005.2(TPM1):c.114+4T>C rs745777320 0.00001
NM_001018005.2(TPM1):c.115-3C>T rs764205680 0.00001
NM_001018005.2(TPM1):c.115-5C>G rs753196985 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.126G>A (p.Glu42=) rs2031852609 0.00001
NM_001018005.2(TPM1):c.138G>A (p.Leu46=) rs200509525 0.00001
NM_001018005.2(TPM1):c.182C>G (p.Ser61Cys) rs2031863455 0.00001
NM_001018005.2(TPM1):c.183T>C (p.Ser61=) rs758150342 0.00001
NM_001018005.2(TPM1):c.1A>G (p.Met1Val) rs367543668 0.00001
NM_001018005.2(TPM1):c.240+8C>T rs1205251150 0.00001
NM_001018005.2(TPM1):c.241-10C>T rs917063084 0.00001
NM_001018005.2(TPM1):c.241-19C>G rs991344363 0.00001
NM_001018005.2(TPM1):c.241-9T>C rs377417143 0.00001
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923 0.00001
NM_001018005.2(TPM1):c.252C>T (p.Asp84=) rs369617788 0.00001
NM_001018005.2(TPM1):c.272G>A (p.Arg91His) rs1477561695 0.00001
NM_001018005.2(TPM1):c.273C>T (p.Arg91=) rs1400074860 0.00001
NM_001018005.2(TPM1):c.288G>A (p.Glu96=) rs192883939 0.00001
NM_001018005.2(TPM1):c.314G>A (p.Arg105His) rs773149185 0.00001
NM_001018005.2(TPM1):c.318G>T (p.Leu106=) rs1449770307 0.00001
NM_001018005.2(TPM1):c.375-18G>C rs1004179784 0.00001
NM_001018005.2(TPM1):c.375-8C>A rs2035300425 0.00001
NM_001018005.2(TPM1):c.39C>G (p.Leu13=) rs1439080260 0.00001
NM_001018005.2(TPM1):c.438C>T (p.Ile146=) rs1460142862 0.00001
NM_001018005.2(TPM1):c.441A>G (p.Gln147=) rs1596372306 0.00001
NM_001018005.2(TPM1):c.444G>C (p.Leu148=) rs376518788 0.00001
NM_001018005.2(TPM1):c.493-13C>T rs143628676 0.00001
NM_001018005.2(TPM1):c.507G>C (p.Leu169=) rs139663836 0.00001
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val) rs774903903 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.563+6C>T rs397516378 0.00001
NM_001018005.2(TPM1):c.563+9G>A rs1472129995 0.00001
NM_001018005.2(TPM1):c.564-15G>T rs943329185 0.00001
NM_001018005.2(TPM1):c.564-9A>G rs755689022 0.00001
NM_001018005.2(TPM1):c.573C>T (p.Ala191=) rs780507307 0.00001
NM_001018005.2(TPM1):c.603G>A (p.Thr201=) rs397516485 0.00001
NM_001018005.2(TPM1):c.61C>A (p.Arg21=) rs1437698471 0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00001
NM_001018005.2(TPM1):c.630G>A (p.Gln210=) rs761816813 0.00001
NM_001018005.2(TPM1):c.630G>T (p.Gln210His) rs761816813 0.00001
NM_001018005.2(TPM1):c.639+10G>A rs763272536 0.00001
NM_001018005.2(TPM1):c.639+8A>G rs1596382540 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.646C>G (p.Gln216Glu) rs1265700466 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.673A>G (p.Ile225Val) rs193922410 0.00001
NM_001018005.2(TPM1):c.678G>A (p.Lys226=) rs1343107860 0.00001
NM_001018005.2(TPM1):c.684T>C (p.Leu228=) rs397516384 0.00001
NM_001018005.2(TPM1):c.6C>T (p.Asp2=) rs1350935943 0.00001
NM_001018005.2(TPM1):c.702+10G>C rs1386461337 0.00001
NM_001018005.2(TPM1):c.702+16T>C rs540541346 0.00001
NM_001018005.2(TPM1):c.702+6A>G rs919873413 0.00001
NM_001018005.2(TPM1):c.702+7T>A rs201873332 0.00001
NM_001018005.2(TPM1):c.703-16A>G rs1444167903 0.00001
NM_001018005.2(TPM1):c.703-3C>T rs796682308 0.00001
NM_001018005.2(TPM1):c.705T>C (p.Ala235=) rs1222579354 0.00001
NM_001018005.2(TPM1):c.755G>T (p.Ser252Ile) rs1375629623 0.00001
NM_001018005.2(TPM1):c.772+12A>G rs761349063 0.00001
NM_001018005.2(TPM1):c.773-18T>C rs759150466 0.00001
NM_001018005.2(TPM1):c.773-8G>C rs1480009148 0.00001
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433 0.00001
NM_001018005.2(TPM1):c.784G>A (p.Ala262Thr) rs758506771 0.00001
NM_001018005.2(TPM1):c.78G>A (p.Glu26=) rs777981114 0.00001
NM_001018005.2(TPM1):c.807C>T (p.Ala269=) rs751778912 0.00001
NM_001018005.2(TPM1):c.814G>A (p.Glu272Lys) rs755226348 0.00001
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn) rs397516391 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018005.2(TPM1):c.837C>T (p.Asn279=) rs397516393 0.00001
NM_001018005.2(TPM1):c.838G>A (p.Asp280Asn) rs777635889 0.00001
NM_001018005.2(TPM1):c.840T>C (p.Asp280=) rs749271066 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018005.2(TPM1):c.852-4G>A rs374970923 0.00001
NM_001018005.2(TPM1):c.852-5C>T rs766724527 0.00001
NM_001018005.2(TPM1):c.87G>A (p.Lys29=) rs530234301 0.00001
NM_001018005.2(TPM1):c.93G>C (p.Ala31=) rs770661916 0.00001
NC_000015.10:g.(?_63041639)_(63067093_?)dup
NC_000015.9:g.(?_63333838)_(63359292_?)del
NC_000015.9:g.(?_63335029)_(63358098_?)del
NC_000015.9:g.(?_63351742)_(63356266_?)del
NC_000015.9:g.(?_63351749)_(63356633_?)del
NM_001018005.1(TPM1):c.640_645del rs1555409659
NM_001018005.2(TPM1):c.*97CT[2] rs886051321
NM_001018005.2(TPM1):c.-7C>T rs370871307
NM_001018005.2(TPM1):c.102C>T (p.Asp34=)
NM_001018005.2(TPM1):c.103A>G (p.Arg35Gly) rs1596297347
NM_001018005.2(TPM1):c.104G>A (p.Arg35Lys) rs730881152
NM_001018005.2(TPM1):c.105G>C (p.Arg35Ser) rs1448738061
NM_001018005.2(TPM1):c.107G>A (p.Ser36Asn) rs1174194983
NM_001018005.2(TPM1):c.108C>A (p.Ser36Arg) rs2542413238
NM_001018005.2(TPM1):c.108C>G (p.Ser36Arg) rs2542413238
NM_001018005.2(TPM1):c.109A>C (p.Lys37Gln) rs199476303
NM_001018005.2(TPM1):c.109A>G (p.Lys37Glu) rs199476303
NM_001018005.2(TPM1):c.10A>G (p.Ile4Val) rs730881148
NM_001018005.2(TPM1):c.111G>A (p.Lys37=) rs2140596743
NM_001018005.2(TPM1):c.112C>G (p.Gln38Glu) rs1060501863
NM_001018005.2(TPM1):c.114+10T>C rs2140597303
NM_001018005.2(TPM1):c.114+12C>T rs760174041
NM_001018005.2(TPM1):c.114+15G>A
NM_001018005.2(TPM1):c.114+15G>C rs552212991
NM_001018005.2(TPM1):c.114+19C>T rs1329856322
NM_001018005.2(TPM1):c.114+1G>A rs112828214
NM_001018005.2(TPM1):c.114+6C>G rs1172117806
NM_001018005.2(TPM1):c.114+9C>T
NM_001018005.2(TPM1):c.114G>A (p.Gln38=) rs2031445986
NM_001018005.2(TPM1):c.115-17C>T
NM_001018005.2(TPM1):c.115-19C>T rs2542430941
NM_001018005.2(TPM1):c.115-5C>T rs753196985
NM_001018005.2(TPM1):c.115-7C>G rs1566937651
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) rs104894501
NM_001018005.2(TPM1):c.123T>C (p.Asp41=) rs1029129685
NM_001018005.2(TPM1):c.129G>A (p.Leu43=)
NM_001018005.2(TPM1):c.12C>T (p.Ile4=)
NM_001018005.2(TPM1):c.130G>A (p.Val44Met) rs1406954948
NM_001018005.2(TPM1):c.131T>C (p.Val44Ala)
NM_001018005.2(TPM1):c.131T>G (p.Val44Gly)
NM_001018005.2(TPM1):c.132G>A (p.Val44=) rs2140627644
NM_001018005.2(TPM1):c.140A>G (p.Gln47Arg) rs1060501864
NM_001018005.2(TPM1):c.141A>G (p.Gln47=) rs2542431538
NM_001018005.2(TPM1):c.144G>A (p.Lys48=) rs1555403374
NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile) rs1060501866
NM_001018005.2(TPM1):c.148C>T (p.Leu50Phe) rs1060501866
NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del) rs730881155
NM_001018005.2(TPM1):c.150C>A (p.Leu50=) rs2140627934
NM_001018005.2(TPM1):c.152A>G (p.Lys51Arg) rs1566937728
NM_001018005.2(TPM1):c.153G>A (p.Lys51=) rs1555403378
NM_001018005.2(TPM1):c.157A>T (p.Thr53Ser) rs2542431723
NM_001018005.2(TPM1):c.158C>T (p.Thr53Ile) rs2140628162
NM_001018005.2(TPM1):c.15G>A (p.Lys5=) rs2140594119
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.161A>C (p.Glu54Ala) rs2542431791
NM_001018005.2(TPM1):c.162A>G (p.Glu54=) rs2542431806
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly) rs1566937759
NM_001018005.2(TPM1):c.167A>G (p.Glu56Gly) rs2542431898
NM_001018005.2(TPM1):c.170T>C (p.Leu57Pro) rs2542431932
NM_001018005.2(TPM1):c.172G>C (p.Asp58His) rs199476304
NM_001018005.2(TPM1):c.178T>C (p.Tyr60His) rs2031862156
NM_001018005.2(TPM1):c.179dup (p.Tyr60Ter) rs2542432101
NM_001018005.2(TPM1):c.17A>G (p.Lys6Arg) rs900504800
NM_001018005.2(TPM1):c.181T>C (p.Ser61Pro) rs2031863016
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001018005.2(TPM1):c.187G>A (p.Ala63Thr) rs1064796782
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.191T>C (p.Leu64Pro) rs730881142
NM_001018005.2(TPM1):c.192C>T (p.Leu64=)
NM_001018005.2(TPM1):c.196G>A (p.Asp66Asn) rs2031866819
NM_001018005.2(TPM1):c.196G>C (p.Asp66His) rs2031866819
NM_001018005.2(TPM1):c.19A>T (p.Lys7Ter)
NM_001018005.2(TPM1):c.200C>A (p.Ala67Asp) rs2031867397
NM_001018005.2(TPM1):c.203A>G (p.Gln68Arg) rs2140629082
NM_001018005.2(TPM1):c.205G>A (p.Glu69Lys)
NM_001018005.2(TPM1):c.207G>A (p.Glu69=) rs2031868897
NM_001018005.2(TPM1):c.209A>C (p.Lys70Thr) rs199476307
NM_001018005.2(TPM1):c.209A>G (p.Lys70Arg) rs199476307
NM_001018005.2(TPM1):c.211C>G (p.Leu71Val) rs730881143
NM_001018005.2(TPM1):c.214G>A (p.Glu72Lys) rs1566937844
NM_001018005.2(TPM1):c.214G>T (p.Glu72Ter) rs1566937844
NM_001018005.2(TPM1):c.215A>G (p.Glu72Gly) rs1358909905
NM_001018005.2(TPM1):c.21G>A (p.Lys7=) rs2140594266
NM_001018005.2(TPM1):c.221C>T (p.Ala74Val) rs2542432618
NM_001018005.2(TPM1):c.226A>G (p.Lys76Glu) rs1555403432
NM_001018005.2(TPM1):c.22A>G (p.Met8Val) rs2542411841
NM_001018005.2(TPM1):c.230A>G (p.Lys77Arg) rs2140629423
NM_001018005.2(TPM1):c.236C>T (p.Thr79Ile) rs2031873302
NM_001018005.2(TPM1):c.237C>T (p.Thr79=) rs2542432806
NM_001018005.2(TPM1):c.238G>A (p.Asp80Asn) rs2542432821
NM_001018005.2(TPM1):c.239A>G (p.Asp80Gly) rs2031873696
NM_001018005.2(TPM1):c.23T>A (p.Met8Lys) rs397516364
NM_001018005.2(TPM1):c.23T>C (p.Met8Thr) rs397516364
NM_001018005.2(TPM1):c.240+16C>T rs1596303469
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.240+2dup rs2542432892
NM_001018005.2(TPM1):c.240+3A>C rs1555403436
NM_001018005.2(TPM1):c.240+3A>G rs1555403436
NM_001018005.2(TPM1):c.240+7G>A
NM_001018005.2(TPM1):c.240+9A>G rs746945498
NM_001018005.2(TPM1):c.241-10C>G
NM_001018005.2(TPM1):c.241-12CT[2]
NM_001018005.2(TPM1):c.241-13A>C rs773025909
NM_001018005.2(TPM1):c.241-13A>G rs773025909
NM_001018005.2(TPM1):c.241-13A>T
NM_001018005.2(TPM1):c.241-18T>C
NM_001018005.2(TPM1):c.241-6A>C
NM_001018005.2(TPM1):c.241-6A>G rs1281731313
NM_001018005.2(TPM1):c.241G>A (p.Ala81Thr) rs2542718924
NM_001018005.2(TPM1):c.242C>T (p.Ala81Val) rs1596360642
NM_001018005.2(TPM1):c.243T>C (p.Ala81=)
NM_001018005.2(TPM1):c.24_25delinsAA (p.Met8_Gln9delinsIleLys) rs2542411909
NM_001018005.2(TPM1):c.251A>T (p.Asp84Val) rs2034909771
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu) rs369617788
NM_001018005.2(TPM1):c.253G>A (p.Val85Ile) rs730881156
NM_001018005.2(TPM1):c.253G>T (p.Val85Leu) rs730881156
NM_001018005.2(TPM1):c.257C>T (p.Ala86Val) rs757577112
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val) rs1555407795
NM_001018005.2(TPM1):c.264G>T (p.Leu88=) rs779411131
NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys) rs1085307487
NM_001018005.2(TPM1):c.269G>A (p.Arg90Lys) rs1596360823
NM_001018005.2(TPM1):c.26A>G (p.Gln9Arg) rs1555402931
NM_001018005.2(TPM1):c.26A>T (p.Gln9Leu) rs1555402931
NM_001018005.2(TPM1):c.270A>G (p.Arg90=) rs2542719846
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.274A>G (p.Ile92Val) rs2542720014
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.283G>A (p.Val95Ile) rs2140907954
NM_001018005.2(TPM1):c.283G>C (p.Val95Leu) rs2140907954
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.284T>G (p.Val95Gly)
NM_001018005.2(TPM1):c.287A>G (p.Glu96Gly) rs2140907992
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys) rs730881131
NM_001018005.2(TPM1):c.294G>A (p.Glu98=) rs747206706
NM_001018005.2(TPM1):c.297G>A (p.Leu99=) rs2542720818
NM_001018005.2(TPM1):c.2T>C (p.Met1Thr) rs1475635564
NM_001018005.2(TPM1):c.301C>T (p.Arg101Cys) rs769069020
NM_001018005.2(TPM1):c.302G>A (p.Arg101His) rs747907799
NM_001018005.2(TPM1):c.30G>A (p.Met10Ile) rs868300913
NM_001018005.2(TPM1):c.310G>A (p.Glu104Lys)
NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln) rs1596361132
NM_001018005.2(TPM1):c.312G>A (p.Glu104=) rs2542721455
NM_001018005.2(TPM1):c.313C>T (p.Arg105Cys) rs2542721497
NM_001018005.2(TPM1):c.316C>A (p.Leu106Met) rs2542721632
NM_001018005.2(TPM1):c.318G>A (p.Leu106=) rs1449770307
NM_001018005.2(TPM1):c.319G>A (p.Ala107Thr)
NM_001018005.2(TPM1):c.326C>T (p.Ala109Val) rs2542721933
NM_001018005.2(TPM1):c.327T>G (p.Ala109=) rs2140908643
NM_001018005.2(TPM1):c.331C>G (p.Gln111Glu) rs2034924162
NM_001018005.2(TPM1):c.331C>T (p.Gln111Ter) rs2034924162
NM_001018005.2(TPM1):c.332A>G (p.Gln111Arg) rs2034924462
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.345A>G (p.Glu115=) rs1596361307
NM_001018005.2(TPM1):c.348T>C (p.Ala116=)
NM_001018005.2(TPM1):c.350A>G (p.Glu117Gly) rs2140908958
NM_001018005.2(TPM1):c.352A>G (p.Lys118Glu)
NM_001018005.2(TPM1):c.354G>A (p.Lys118=) rs773916751
NM_001018005.2(TPM1):c.36G>A (p.Lys12=) rs1313549801
NM_001018005.2(TPM1):c.371A>C (p.Glu124Ala)
NM_001018005.2(TPM1):c.371A>G (p.Glu124Gly) rs2034928659
NM_001018005.2(TPM1):c.374+16C>T rs2034931578
NM_001018005.2(TPM1):c.374+19C>A rs2542723412
NM_001018005.2(TPM1):c.375-16T>G
NM_001018005.2(TPM1):c.375-4del rs2542773990
NM_001018005.2(TPM1):c.375-8_375-5del rs2140936859
NM_001018005.2(TPM1):c.377G>C (p.Gly126Ala) rs1566962034
NM_001018005.2(TPM1):c.377G>T (p.Gly126Val) rs1566962034
NM_001018005.2(TPM1):c.381G>A (p.Met127Ile) rs201211957
NM_001018005.2(TPM1):c.384A>C (p.Lys128Asn) rs2542774559
NM_001018005.2(TPM1):c.384A>G (p.Lys128=) rs2542774559
NM_001018005.2(TPM1):c.385G>T (p.Val129Phe) rs2140937065
NM_001018005.2(TPM1):c.386T>C (p.Val129Ala)
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.390T>C (p.Ile130=) rs2542774865
NM_001018005.2(TPM1):c.395G>T (p.Ser132Ile)
NM_001018005.2(TPM1):c.397C>T (p.Arg133Ter) rs1005672618
NM_001018005.2(TPM1):c.398G>A (p.Arg133Gln) rs2140937312
NM_001018005.2(TPM1):c.403C>G (p.Gln135Glu) rs11558749
NM_001018005.2(TPM1):c.408_410del (p.Lys136_Asp137delinsAsn) rs1064797199
NM_001018005.2(TPM1):c.40G>T (p.Asp14Tyr) rs876661210
NM_001018005.2(TPM1):c.410A>T (p.Asp137Val) rs730881134
NM_001018005.2(TPM1):c.413A>C (p.Glu138Ala) rs786204410
NM_001018005.2(TPM1):c.414A>G (p.Glu138=) rs2542775731
NM_001018005.2(TPM1):c.416A>G (p.Glu139Gly) rs727504389
NM_001018005.2(TPM1):c.417A>G (p.Glu139=) rs2140937690
NM_001018005.2(TPM1):c.421A>G (p.Met141Val) rs2035311298
NM_001018005.2(TPM1):c.425A>C (p.Glu142Ala)
NM_001018005.2(TPM1):c.425A>G (p.Glu142Gly) rs2542776149
NM_001018005.2(TPM1):c.428T>G (p.Ile143Ser) rs730881136
NM_001018005.2(TPM1):c.431A>G (p.Gln144Arg) rs1566962338
NM_001018005.2(TPM1):c.432G>A (p.Gln144=) rs1475839079
NM_001018005.2(TPM1):c.433G>A (p.Glu145Lys) rs2140937964
NM_001018005.2(TPM1):c.433G>C (p.Glu145Gln) rs2140937964
NM_001018005.2(TPM1):c.434A>C (p.Glu145Ala) rs2140937995
NM_001018005.2(TPM1):c.436A>T (p.Ile146Phe) rs2542776671
NM_001018005.2(TPM1):c.437T>A (p.Ile146Asn)
NM_001018005.2(TPM1):c.437T>G (p.Ile146Ser) rs2035315481
NM_001018005.2(TPM1):c.438C>G (p.Ile146Met) rs1460142862
NM_001018005.2(TPM1):c.439C>T (p.Gln147Ter) rs2140938088
NM_001018005.2(TPM1):c.43A>G (p.Lys15Glu) rs2542412135
NM_001018005.2(TPM1):c.447A>G (p.Lys149=)
NM_001018005.2(TPM1):c.451G>A (p.Ala151Thr)
NM_001018005.2(TPM1):c.454A>G (p.Lys152Glu) rs2542777211
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.45G>A (p.Lys15=) rs199476301
NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn) rs199476301
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.462T>G (p.Ile154Met) rs2140938472
NM_001018005.2(TPM1):c.469G>A (p.Asp157Asn) rs2542777458
NM_001018005.2(TPM1):c.469G>T (p.Asp157Tyr) rs2542777458
NM_001018005.2(TPM1):c.46G>A (p.Glu16Lys) rs727504290
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.492+11G>T rs2542778158
NM_001018005.2(TPM1):c.492+14G>A
NM_001018005.2(TPM1):c.492+16C>A rs1334558584
NM_001018005.2(TPM1):c.492+17dup rs2542778463
NM_001018005.2(TPM1):c.492+19A>C rs922569916
NM_001018005.2(TPM1):c.492+19A>G rs922569916
NM_001018005.2(TPM1):c.492+3C>G rs1225074580
NM_001018005.2(TPM1):c.492+9C>G rs2140938836
NM_001018005.2(TPM1):c.493-10C>T rs1051722554
NM_001018005.2(TPM1):c.493-17G>A rs1055806170
NM_001018005.2(TPM1):c.493-6C>T rs397516374
NM_001018005.2(TPM1):c.493-7G>A rs745830368
NM_001018005.2(TPM1):c.493-9C>T rs2542805191
NM_001018005.2(TPM1):c.493-9del rs2542805140
NM_001018005.2(TPM1):c.498C>T (p.Ala166=) rs1255305586
NM_001018005.2(TPM1):c.499dup (p.Arg167fs) rs1596377768
NM_001018005.2(TPM1):c.4G>C (p.Asp2His) rs1060501865
NM_001018005.2(TPM1):c.505C>G (p.Leu169Val) rs1351394245
NM_001018005.2(TPM1):c.508G>A (p.Val170Ile) rs1555409095
NM_001018005.2(TPM1):c.511A>C (p.Ile171Leu) rs774903903
NM_001018005.2(TPM1):c.513C>A (p.Ile171=) rs730881137
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.516T>G (p.Ile172Met) rs730881138
NM_001018005.2(TPM1):c.51C>A (p.Asn17Lys) rs878854150
NM_001018005.2(TPM1):c.51C>G (p.Asn17Lys) rs878854150
NM_001018005.2(TPM1):c.51C>T (p.Asn17=) rs878854150
NM_001018005.2(TPM1):c.520A>G (p.Ser174Gly)
NM_001018005.2(TPM1):c.521G>A (p.Ser174Asn)
NM_001018005.2(TPM1):c.523G>T (p.Asp175Tyr) rs104894503
NM_001018005.2(TPM1):c.526C>G (p.Leu176Val) rs2542806377
NM_001018005.2(TPM1):c.528G>A (p.Leu176=) rs2542806417
NM_001018005.2(TPM1):c.52G>A (p.Ala18Thr) rs2542412260
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.534T>C (p.Arg178=) rs2542806582
NM_001018005.2(TPM1):c.538G>A (p.Glu180Lys) rs1555409132
NM_001018005.2(TPM1):c.538G>C (p.Glu180Gln) rs1555409132
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly) rs104894502
NM_001018005.2(TPM1):c.539A>T (p.Glu180Val) rs104894502
NM_001018005.2(TPM1):c.53C>A (p.Ala18Asp) rs730881150
NM_001018005.2(TPM1):c.53C>T (p.Ala18Val) rs730881150
NM_001018005.2(TPM1):c.540G>A (p.Glu180=)
NM_001018005.2(TPM1):c.541G>C (p.Glu181Gln) rs2542806797
NM_001018005.2(TPM1):c.546G>A (p.Arg182=) rs1555409143
NM_001018005.2(TPM1):c.550G>C (p.Glu184Gln)
NM_001018005.2(TPM1):c.551del (p.Glu184fs) rs730881153
NM_001018005.2(TPM1):c.552G>T (p.Glu184Asp) rs1455822203
NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln) rs727504264
NM_001018005.2(TPM1):c.560A>G (p.Glu187Gly) rs786204411
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) rs786204411
NM_001018005.2(TPM1):c.561A>G (p.Glu187=) rs2542807343
NM_001018005.2(TPM1):c.562G>A (p.Gly188Ser) rs2035531508
NM_001018005.2(TPM1):c.563+10C>T rs397516377
NM_001018005.2(TPM1):c.563+15C>A
NM_001018005.2(TPM1):c.563+17C>T rs745788451
NM_001018005.2(TPM1):c.563+3A>G rs2542807537
NM_001018005.2(TPM1):c.563+5G>A rs2035532119
NM_001018005.2(TPM1):c.563+6C>A rs397516378
NM_001018005.2(TPM1):c.563+6C>G rs397516378
NM_001018005.2(TPM1):c.564-11dup rs2542828923
NM_001018005.2(TPM1):c.564-12C>G rs113591254
NM_001018005.2(TPM1):c.564-14A>G rs2542828785
NM_001018005.2(TPM1):c.564-5A>T rs550286836
NM_001018005.2(TPM1):c.564-8A>C rs2140963062
NM_001018005.2(TPM1):c.568T>C (p.Cys190Arg) rs730881139
NM_001018005.2(TPM1):c.572_573delinsTT (p.Ala191Val) rs730881154
NM_001018005.2(TPM1):c.573C>G (p.Ala191=) rs780507307
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.574G>T (p.Glu192Ter) rs199476315
NM_001018005.2(TPM1):c.581A>G (p.Glu194Gly) rs2542829528
NM_001018005.2(TPM1):c.583G>A (p.Glu195Lys) rs1555409508
NM_001018005.2(TPM1):c.585A>G (p.Glu195=) rs3218717
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter) rs1131003
NM_001018005.2(TPM1):c.588A>G (p.Glu196=) rs1596382209
NM_001018005.2(TPM1):c.589T>C (p.Leu197=) rs2140963629
NM_001018005.2(TPM1):c.58G>A (p.Asp20Asn) rs727504391
NM_001018005.2(TPM1):c.590T>C (p.Leu197Ser) rs2542829727
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.603G>C (p.Thr201=) rs397516485
NM_001018005.2(TPM1):c.606C>T (p.Asn202=) rs1225777387
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp) rs1555409523
NM_001018005.2(TPM1):c.608A>T (p.Asn203Ile) rs2542830367
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.612G>C (p.Leu204Phe)
NM_001018005.2(TPM1):c.616T>G (p.Ser206Ala) rs2035667597
NM_001018005.2(TPM1):c.618A>T (p.Ser206=) rs2542830654
NM_001018005.2(TPM1):c.619C>T (p.Leu207=) rs2542830690
NM_001018005.2(TPM1):c.61C>T (p.Arg21Ter)
NM_001018005.2(TPM1):c.625G>A (p.Ala209Thr) rs730881159
NM_001018005.2(TPM1):c.625G>C (p.Ala209Pro) rs730881159
NM_001018005.2(TPM1):c.625G>T (p.Ala209Ser) rs730881159
NM_001018005.2(TPM1):c.627T>G (p.Ala209=) rs769210513
NM_001018005.2(TPM1):c.628C>T (p.Gln210Ter) rs2542831061
NM_001018005.2(TPM1):c.629A>G (p.Gln210Arg) rs777139450
NM_001018005.2(TPM1):c.631G>A (p.Ala211Thr)
NM_001018005.2(TPM1):c.632C>T (p.Ala211Val) rs397516487
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val) rs769951937
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001018005.2(TPM1):c.639+14A>G rs2140964792
NM_001018005.2(TPM1):c.639+16G>A rs2542832004
NM_001018005.2(TPM1):c.639+20T>C rs2542832161
NM_001018005.2(TPM1):c.639G>A (p.Lys213=) rs2035671896
NM_001018005.2(TPM1):c.639G>C (p.Lys213Asn) rs2035671896
NM_001018005.2(TPM1):c.640-10C>G rs748679631
NM_001018005.2(TPM1):c.640-14C>G rs781638696
NM_001018005.2(TPM1):c.640-14C>T rs781638696
NM_001018005.2(TPM1):c.640-4A>G rs2140969178
NM_001018005.2(TPM1):c.640-4_640-3insAA rs2542841625
NM_001018005.2(TPM1):c.640-5T>C
NM_001018005.2(TPM1):c.645G>T (p.Ser215=) rs773403386
NM_001018005.2(TPM1):c.647A>G (p.Gln216Arg) rs2140969414
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.656A>G (p.Asp219Gly) rs2140969490
NM_001018005.2(TPM1):c.656A>T (p.Asp219Val) rs2140969490
NM_001018005.2(TPM1):c.659G>A (p.Arg220Lys)
NM_001018005.2(TPM1):c.65C>G (p.Ala22Gly) rs2031431973
NM_001018005.2(TPM1):c.65C>T (p.Ala22Val) rs2031431973
NM_001018005.2(TPM1):c.660A>G (p.Arg220=) rs2035732196
NM_001018005.2(TPM1):c.662A>G (p.Tyr221Cys) rs2542842049
NM_001018005.2(TPM1):c.663T>A (p.Tyr221Ter)
NM_001018005.2(TPM1):c.669A>G (p.Glu223=)
NM_001018005.2(TPM1):c.677A>G (p.Lys226Arg) rs730881144
NM_001018005.2(TPM1):c.679G>T (p.Val227Phe) rs1368991319
NM_001018005.2(TPM1):c.67G>C (p.Glu23Gln) rs199476302
NM_001018005.2(TPM1):c.681C>G (p.Val227=) rs2140969848
NM_001018005.2(TPM1):c.681C>T (p.Val227=) rs2140969848
NM_001018005.2(TPM1):c.682C>G (p.Leu228Val) rs2542842524
NM_001018005.2(TPM1):c.683T>A (p.Leu228His)
NM_001018005.2(TPM1):c.685T>C (p.Ser229Pro) rs2542842620
NM_001018005.2(TPM1):c.687C>G (p.Ser229=) rs759362606
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001018005.2(TPM1):c.68A>C (p.Glu23Ala) rs2140595470
NM_001018005.2(TPM1):c.69G>A (p.Glu23=)
NM_001018005.2(TPM1):c.702+12G>A rs1320865775
NM_001018005.2(TPM1):c.702+15G>C rs2140970549
NM_001018005.2(TPM1):c.702+4A>G rs730881145
NM_001018005.2(TPM1):c.702+5T>C rs2140970259
NM_001018005.2(TPM1):c.702+7del rs1060504368
NM_001018005.2(TPM1):c.703-14A>G rs2035785514
NM_001018005.2(TPM1):c.703-18T>A
NM_001018005.2(TPM1):c.703-19C>T
NM_001018005.2(TPM1):c.703-8C>T rs2035786670
NM_001018005.2(TPM1):c.703G>A (p.Ala235Thr) rs2035787414
NM_001018005.2(TPM1):c.70C>T (p.Gln24Ter) rs2031433492
NM_001018005.2(TPM1):c.710C>G (p.Thr237Ser) rs2140974070
NM_001018005.2(TPM1):c.713G>A (p.Arg238Gln) rs777716347
NM_001018005.2(TPM1):c.713G>T (p.Arg238Leu) rs777716347
NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr) rs199476318
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.736G>A (p.Val246Ile) rs1596386599
NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr) rs730881160
NM_001018005.2(TPM1):c.74C>T (p.Ala25Val) rs2031433815
NM_001018005.2(TPM1):c.751A>G (p.Lys251Glu) rs2035793563
NM_001018005.2(TPM1):c.755G>A (p.Ser252Asn) rs1375629623
NM_001018005.2(TPM1):c.755G>C (p.Ser252Thr) rs1375629623
NM_001018005.2(TPM1):c.757A>G (p.Ile253Val) rs2035794747
NM_001018005.2(TPM1):c.758T>C (p.Ile253Thr)
NM_001018005.2(TPM1):c.759T>C (p.Ile253=) rs2542851600
NM_001018005.2(TPM1):c.75G>A (p.Ala25=) rs1214191576
NM_001018005.2(TPM1):c.75G>T (p.Ala25=) rs1214191576
NM_001018005.2(TPM1):c.760G>A (p.Asp254Asn) rs2542851638
NM_001018005.2(TPM1):c.762T>A (p.Asp254Glu) rs727504354
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu) rs727504354
NM_001018005.2(TPM1):c.768A>G (p.Leu256=) rs139650306
NM_001018005.2(TPM1):c.76G>A (p.Glu26Lys) rs2140595656
NM_001018005.2(TPM1):c.772+10_772+11insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAGGTAAGATCTT rs2542851707
NM_001018005.2(TPM1):c.772+13G>A
NM_001018005.2(TPM1):c.772+14T>C rs2542852045
NM_001018005.2(TPM1):c.772+15A>C
NM_001018005.2(TPM1):c.772+15A>G rs764753829
NM_001018005.2(TPM1):c.772+16G>A rs2542852123
NM_001018005.2(TPM1):c.772+8C>T rs1331639399
NM_001018005.2(TPM1):c.772+9T>A
NM_001018005.2(TPM1):c.772+9T>G rs1339443753
NM_001018005.2(TPM1):c.773-10del rs2035993567
NM_001018005.2(TPM1):c.773-4A>G rs1555410410
NM_001018005.2(TPM1):c.773-4A>T rs1555410410
NM_001018005.2(TPM1):c.773-6T>A rs374049254
NM_001018005.2(TPM1):c.773A>G (p.Asp258Gly) rs2542882227
NM_001018005.2(TPM1):c.775G>A (p.Glu259Lys) rs397516389
NM_001018005.2(TPM1):c.775G>C (p.Glu259Gln) rs397516389
NM_001018005.2(TPM1):c.777G>A (p.Glu259=)
NM_001018005.2(TPM1):c.777G>T (p.Glu259Asp) rs2035997247
NM_001018005.2(TPM1):c.786T>C (p.Ala262=) rs2140991865
NM_001018005.2(TPM1):c.787C>G (p.Gln263Glu) rs730881147
NM_001018005.2(TPM1):c.790A>G (p.Lys264Glu) rs397516390
NM_001018005.2(TPM1):c.803A>C (p.Lys268Thr) rs1395706088
NM_001018005.2(TPM1):c.804A>G (p.Lys268=) rs1279188900
NM_001018005.2(TPM1):c.806C>T (p.Ala269Val) rs1342749492
NM_001018005.2(TPM1):c.808A>G (p.Ile270Val) rs1555410445
NM_001018005.2(TPM1):c.810C>G (p.Ile270Met) rs2542883171
NM_001018005.2(TPM1):c.812G>A (p.Ser271Asn) rs1278119163
NM_001018005.2(TPM1):c.813C>G (p.Ser271Arg) rs1313357866
NM_001018005.2(TPM1):c.813C>T (p.Ser271=) rs1313357866
NM_001018005.2(TPM1):c.815A>C (p.Glu272Ala) rs727503519
NM_001018005.2(TPM1):c.817G>A (p.Glu273Lys) rs2542883342
NM_001018005.2(TPM1):c.819G>T (p.Glu273Asp) rs2542883376
NM_001018005.2(TPM1):c.820C>A (p.Leu274Met) rs2140992377
NM_001018005.2(TPM1):c.822G>A (p.Leu274=) rs2140992413
NM_001018005.2(TPM1):c.823G>C (p.Asp275His) rs2036002326
NM_001018005.2(TPM1):c.826C>A (p.His276Asn) rs2140992472
NM_001018005.2(TPM1):c.826C>G (p.His276Asp) rs2140992472
NM_001018005.2(TPM1):c.82G>T (p.Asp28Tyr) rs397516391
NM_001018005.2(TPM1):c.830C>T (p.Ala277Val) rs199476320
NM_001018005.2(TPM1):c.831T>C (p.Ala277=) rs2036003569
NM_001018005.2(TPM1):c.832C>G (p.Leu278Val) rs730881161
NM_001018005.2(TPM1):c.832C>T (p.Leu278Phe) rs730881161
NM_001018005.2(TPM1):c.835A>G (p.Asn279Asp) rs397516392
NM_001018005.2(TPM1):c.838G>C (p.Asp280His) rs777635889
NM_001018005.2(TPM1):c.846T>G (p.Thr282=) rs2542884444
NM_001018005.2(TPM1):c.849del (p.Ile284fs) rs775857037
NM_001018005.2(TPM1):c.851+10C>G
NM_001018005.2(TPM1):c.851+14C>T rs2140993340
NM_001018005.2(TPM1):c.851+2T>C
NM_001018005.2(TPM1):c.851+5dup rs2036008903
NM_001018005.2(TPM1):c.851+6C>A rs375043184
NM_001018005.2(TPM1):c.851+7G>T rs765721221
NM_001018005.2(TPM1):c.851+7del rs2542884836
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr) rs745520822
NM_001018005.2(TPM1):c.852-10C>T rs1407421108
NM_001018005.2(TPM1):c.852-12A>G rs1414878944
NM_001018005.2(TPM1):c.852-5C>A rs766724527
NM_001018005.2(TPM1):c.852-6A>G rs2542920437
NM_001018005.2(TPM1):c.852A>C (p.Ile284=) rs759481997
NM_001018005.2(TPM1):c.852A>T (p.Ile284=) rs759481997
NM_001018005.2(TPM1):c.88_89delinsGC (p.Lys30Ala) rs1555402999
NM_001018005.2(TPM1):c.8C>T (p.Ala3Val) rs2542411688
NM_001018005.2(TPM1):c.94_95delinsTT (p.Ala32Leu) rs2031440279
NM_001018005.2(TPM1):c.95C>T (p.Ala32Val) rs2542413020
NM_001018005.2(TPM1):c.97G>A (p.Glu33Lys) rs397516397
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444
NM_001018005.2(TPM1):c.99A>G (p.Glu33=) rs2140596468
NM_001018005.2(TPM1):c.9C>T (p.Ala3=) rs2542411702

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