NM_001100.3(ACTA1):c.1054T>C (p.Ser352Pro)

rs1553255301 
NM_001100.3(ACTA1):c.1123A>G (p.Lys375Glu)


NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser)

rs794727488 
NM_001100.3(ACTA1):c.172G>A (p.Asp58Asn)

rs1085308014 
NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn)

rs1553255502 
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile)

rs1553255486 
NM_001100.3(ACTA1):c.413T>A (p.Ile138Asn)

rs587780271 
NM_001100.3(ACTA1):c.442G>A (p.Gly148Ser)

rs398123563 
NM_001100.3(ACTA1):c.461T>C (p.Val154Ala)

rs1553255446 
NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu)

rs1057519311 
NM_001100.3(ACTA1):c.529A>G (p.Ile177Val)

rs1558081804 
NM_001100.3(ACTA1):c.682G>C (p.Glu228Gln)

rs1558081664 
NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg)

rs1057521117 
NM_001100.3(ACTA1):c.766C>T (p.Arg256Cys)

rs1558081624 
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val)

rs121909523 
NM_001100.3(ACTA1):c.812T>G (p.Met271Arg)

rs1553255360 
NM_001100.3(ACTA1):c.923A>G (p.Tyr308Cys)

rs878854374 
NM_001100.3(ACTA1):c.990+1G>T

rs372686280 
NM_001101362.2(KBTBD13):c.1026T>G (p.Tyr342Ter)

rs760601340 
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro)

rs767384093 
NM_001271208.1(NEB):c.21103delG (p.Val7035Terfs)

rs1553686994 
NM_001271208.1(NEB):c.25509+1_25509+2ins5

rs1357452519 
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]


NM_001271208.2(NEB):c.10560+1G>A

rs1553915731 
NM_001271208.2(NEB):c.11076+1G>A

rs1460365350 
NM_001271208.2(NEB):c.110771G>A


NM_001271208.2(NEB):c.11181+2T>C

rs1553904694 
NM_001271208.2(NEB):c.11289+1G>C

rs1553901249 
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp)

rs533027587 
NM_001271208.2(NEB):c.11532A>G

rs1553609515 
NM_001271208.2(NEB):c.116022A>C

rs1553891733 
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter)

rs776569219 
NM_001271208.2(NEB):c.11909_11910+4del

rs1553886582 
NM_001271208.2(NEB):c.11910+1G>A

rs774495973 
NM_001271208.2(NEB):c.12582A>G

rs1553608621 
NM_001271208.2(NEB):c.13476+1G>A


NM_001271208.2(NEB):c.1365+2T>C

rs770797137 
NM_001271208.2(NEB):c.13662A>G

rs1553607505 
NM_001271208.2(NEB):c.13788+1G>A

rs1553862061 
NM_001271208.2(NEB):c.1470+1G>A

rs1220787593 
NM_001271208.2(NEB):c.1569+1G>A

rs1553605553 
NM_001271208.2(NEB):c.15702A>G

rs1553603958 
NM_001271208.2(NEB):c.15702_1574del

rs1553603933 
NM_001271208.2(NEB):c.1672_1674+2del

rs1057516739 
NM_001271208.2(NEB):c.1674+1G>T

rs750585238 
NM_001271208.2(NEB):c.1674+2T>C

rs1553603437 
NM_001271208.2(NEB):c.17953_1847256del


NM_001271208.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)

rs1553601066 
NM_001271208.2(NEB):c.18261+1G>T


NM_001271208.2(NEB):c.183671_18367delinsAA

rs1553770178 
NM_001271208.2(NEB):c.183671_18370del

rs1553770146 
NM_001271208.2(NEB):c.18471+1G>C

rs1553769576 
NM_001271208.2(NEB):c.186942del

rs1553763404 
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter)

rs539819851 
NM_001271208.2(NEB):c.18891+1G>A

rs1443738549 
NM_001271208.2(NEB):c.18971G>A

rs1553593177 
NM_001271208.2(NEB):c.18981C>G (p.Tyr6327Ter)

rs761964375 
NM_001271208.2(NEB):c.18996+2T>C


NM_001271208.2(NEB):c.19126_19151del (p.Gln6376fs)

rs1553757097 
NM_001271208.2(NEB):c.192071G>A

rs1553755829 
NM_001271208.2(NEB):c.19836+1G>T

rs1446930968 
NM_001271208.2(NEB):c.20157+2T>C

rs1553717306 
NM_001271208.2(NEB):c.201581G>C

rs1553715579 
NM_001271208.2(NEB):c.20390_20412del (p.Gln6797fs)

rs1553710982 
NM_001271208.2(NEB):c.20401G>T (p.Gly6801Ter)


NM_001271208.2(NEB):c.204671G>T

rs760082702 
NM_001271208.2(NEB):c.20514C>A (p.Tyr6838Ter)

rs1242775893 
NM_001271208.2(NEB):c.20577+2T>C

rs1185654671 
NM_001271208.2(NEB):c.20659C>T (p.Arg6887Ter)

rs749452641 
NM_001271208.2(NEB):c.20682+1G>A


NM_001271208.2(NEB):c.20787+2T>C

rs1337287633 
NM_001271208.2(NEB):c.207881G>A

rs1553695557 
NM_001271208.2(NEB):c.20889dup (p.Asp6964Ter)

rs1553694860 
NM_001271208.2(NEB):c.21093_21094del (p.Val7032fs)

rs1553688242 
NM_001271208.2(NEB):c.21312+1G>A

rs1553682994 
NM_001271208.2(NEB):c.21321C>G (p.Tyr7107Ter)

rs1553679273 
NM_001271208.2(NEB):c.21358del (p.Leu7120fs)

rs1553678967 
NM_001271208.2(NEB):c.21735+1G>A

rs1446706909 
NM_001271208.2(NEB):c.2184113_21848del

rs767772838 
NM_001271208.2(NEB):c.218412A>G

rs1389892619 
NM_001271208.2(NEB):c.2211+1G>A

rs1553586486 
NM_001271208.2(NEB):c.2211+5G>T

rs797045736 
NM_001271208.2(NEB):c.22122A>G

rs1553580540 
NM_001271208.2(NEB):c.22192C>T (p.Gln7398Ter)

rs1553646540 
NM_001271208.2(NEB):c.22243del (p.Glu7415fs)

rs1235589246 
NM_001271208.2(NEB):c.222675_222672del

rs1553644243 
NM_001271208.2(NEB):c.223781G>A

rs1553642332 
NM_001271208.2(NEB):c.22584+1del

rs1488066635 
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter)

rs760935667 
NM_001271208.2(NEB):c.22695+2T>C

rs200449517 
NM_001271208.2(NEB):c.226961G>C

rs757157808 
NM_001271208.2(NEB):c.228011G>A

rs745511810 
NM_001271208.2(NEB):c.22905+1G>A

rs1302373559 
NM_001271208.2(NEB):c.22905+2T>G

rs1553627466 
NM_001271208.2(NEB):c.23010+2T>C

rs1553623367 
NM_001271208.2(NEB):c.2310+2T>A

rs1553579092 
NM_001271208.2(NEB):c.23232+2T>C

rs112610938 
NM_001271208.2(NEB):c.23346+2T>A

rs1553615846 
NM_001271208.2(NEB):c.23483del (p.Met7828fs)

rs1553603690 
NM_001271208.2(NEB):c.23520dup (p.Gln7841fs)

rs1553603438 
NM_001271208.2(NEB):c.23522_23523AG[2] (p.Arg7842fs)

rs1553603400 
NM_001271208.2(NEB):c.23556+1G>C

rs1011425121 
NM_001271208.2(NEB):c.23556+1G>T

rs1011425121 
NM_001271208.2(NEB):c.23847+2T>C

rs545937015 
NM_001271208.2(NEB):c.238481G>C

rs797045098 
NM_001271208.2(NEB):c.2385del (p.Gln795fs)

rs1553568167 
NM_001271208.2(NEB):c.2389_2390AG[1] (p.Arg797fs)

rs1057516938 
NM_001271208.2(NEB):c.23939C>A (p.Ser7980Ter)

rs755970391 
NM_001271208.2(NEB):c.23940+1G>A

rs781120931 
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter)

rs549794342 
NM_001271208.2(NEB):c.241271G>A

rs1553561697 
NM_001271208.2(NEB):c.241271G>C

rs1553561697 
NM_001271208.2(NEB):c.241271_24134del

rs1423137705 
NM_001271208.2(NEB):c.24128_24131dup (p.Leu8044fs)

rs1553561665 
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs)

rs772009599 
NM_001271208.2(NEB):c.24144del (p.Asn8048fs)

rs1553561525 
NM_001271208.2(NEB):c.2415+2T>C

rs1057517399 
NM_001271208.2(NEB):c.24161G>C

rs1553565278 
NM_001271208.2(NEB):c.24201_24204dup (p.Glu8069fs)

rs1553561211 
NM_001271208.2(NEB):c.24219+1G>A

rs755239192 
NM_001271208.2(NEB):c.24232_24235dup (p.Asn8079fs)

rs1553556275 
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs)

rs1266535163 
NM_001271208.2(NEB):c.24312+2T>C

rs1553555768 
NM_001271208.2(NEB):c.24313_24317dup (p.Tyr8107fs)

rs1553552413 
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs)

rs1553552384 
NM_001271208.2(NEB):c.24317T>A (p.Leu8106Ter)

rs756726488 
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter)

rs1218073575 
NM_001271208.2(NEB):c.24380_24383dup (p.His8128fs)

rs1553551748 
NM_001271208.2(NEB):c.24382_24383CA[4] (p.Asn8129fs)

rs1553551650 
NM_001271208.2(NEB):c.24405+1G>A

rs1366853918 
NM_001271208.2(NEB):c.24406_24410dup (p.Tyr8138fs)

rs1553548771 
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs)

rs1344099907 
NM_001271208.2(NEB):c.24410T>A (p.Leu8137Ter)

rs1553548752 
NM_001271208.2(NEB):c.24414C>A (p.Tyr8138Ter)

rs1332061304 
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs)

rs1257495033 
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs)

rs752582527 
NM_001271208.2(NEB):c.24473_24476dup (p.His8159fs)

rs1553548207 
NM_001271208.2(NEB):c.24482_24488del (p.Gln8161fs)

rs1553548018 
NM_001271208.2(NEB):c.24498+1G>A

rs775631800 
NM_001271208.2(NEB):c.244991G>A

rs1421095081 
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter)

rs763364977 
NM_001271208.2(NEB):c.24582_24585dup (p.Ser8196delinsTyrTer)

rs797044606 
NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs)

rs1553537512 
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=)

rs202048855 
NM_001271208.2(NEB):c.246851G>C


NM_001271208.2(NEB):c.246852A>G

rs113290650 
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter)

rs754272530 
NM_001271208.2(NEB):c.24742G>T (p.Glu8248Ter)

rs1553536267 
NM_001271208.2(NEB):c.24744_24745del (p.Arg8249fs)

rs1357811155 
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer)

rs794727136 
NM_001271208.2(NEB):c.24771del (p.Phe8257fs)

rs794727136 
NM_001271208.2(NEB):c.247781G>A


NM_001271208.2(NEB):c.247782A>C

rs112687345 
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs)

rs776059611 
NM_001271208.2(NEB):c.248719_24872del

rs1553530144 
NM_001271208.2(NEB):c.2499del (p.Ala834fs)

rs1553564693 
NM_001271208.2(NEB):c.25117delinsTA (p.Glu8373Ter)

rs1553526619 
NM_001271208.2(NEB):c.25162+1G>A

rs1191429915 
NM_001271208.2(NEB):c.25162+1G>C

rs1191429915 
NM_001271208.2(NEB):c.251632A>C

rs866309952 
NM_001271208.2(NEB):c.252561G>T

rs1553520609 
NM_001271208.2(NEB):c.25402+1G>A

rs113525641 
NM_001271208.2(NEB):c.25402+2del

rs1553519860 
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter)

rs200731870 
NM_001271208.2(NEB):c.25445C>A (p.Ser8482Ter)

rs1553519124 
NM_001271208.2(NEB):c.25509+2T>A

rs1553518813 
NM_001271208.2(NEB):c.2659G>T (p.Glu887Ter)

rs1553558398 
NM_001271208.2(NEB):c.2751del (p.Asp916_Tyr917insTer)

rs1553557405 
NM_001271208.2(NEB):c.2784del (p.Asp929fs)

rs786204430 
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter)

rs1553548666 
NM_001271208.2(NEB):c.294+2T>C

rs773952935 
NM_001271208.2(NEB):c.29441G>A

rs1553542669 
NM_001271208.2(NEB):c.2951G>T

rs111300270 
NM_001271208.2(NEB):c.30431G>A

rs113326313 
NM_001271208.2(NEB):c.3147+1del

rs1553539777 
NM_001271208.2(NEB):c.3255+1G>C

rs375628303 
NM_001271208.2(NEB):c.3255+1G>T

rs375628303 
NM_001271208.2(NEB):c.3255+1del

rs1553538835 
NM_001271208.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)

rs1159756073 
NM_001271208.2(NEB):c.3567+1G>C

rs587780399 
NM_001271208.2(NEB):c.371G>A

rs1428597732 
NM_001271208.2(NEB):c.371G>C

rs1428597732 
NM_001271208.2(NEB):c.3774+2T>C

rs1553531049 
NM_001271208.2(NEB):c.3879+1G>A

rs746999970 
NM_001271208.2(NEB):c.38801G>T

rs1057516381 
NM_001271208.2(NEB):c.38802A>G

rs1342507012 
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG

rs786204576 
NM_001271208.2(NEB):c.39881G>A

rs1553517128 
NM_001271208.2(NEB):c.4036_405del

rs1553689774 
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter)

rs1057517360 
NM_001271208.2(NEB):c.43002A>C

rs1553512813 
NM_001271208.2(NEB):c.4506+1G>A

rs112517981 
NM_001271208.2(NEB):c.4719+2T>C

rs1553501889 
NM_001271208.2(NEB):c.5031+1G>A

rs1553495140 
NM_001271208.2(NEB):c.507+1G>A

rs1553689057 
NM_001271208.2(NEB):c.53441G>A

rs1197561990 
NM_001271208.2(NEB):c.53441G>C

rs1197561990 
NM_001271208.2(NEB):c.5451+2_5451+11del

rs1553487838 
NM_001271208.2(NEB):c.54522A>G

rs1057517317 
NM_001271208.2(NEB):c.6075+1G>A

rs1553472127 
NM_001271208.2(NEB):c.60761G>T

rs1553469502 
NM_001271208.2(NEB):c.60762A>C

rs1553469514 
NM_001271208.2(NEB):c.60762A>G

rs1553469514 
NM_001271208.2(NEB):c.6078del (p.Lys2026fs)

rs1057516758 
NM_001271208.2(NEB):c.6131G>C

rs767693366 
NM_001271208.2(NEB):c.6132A>G

rs752893483 
NM_001271208.2(NEB):c.6183+1G>A

rs557870969 
NM_001271208.2(NEB):c.6183+1del

rs1553468960 
NM_001271208.2(NEB):c.6183+2T>A

rs1553468939 
NM_001271208.2(NEB):c.68082A>T

rs1553457607 
NM_001271208.2(NEB):c.6811_6812CT[1] (p.Leu2271_Tyr2272insTer)

rs1180339426 
NM_001271208.2(NEB):c.6937C>T (p.Arg2313Ter)

rs756363951 
NM_001271208.2(NEB):c.717+1G>A


NM_001271208.2(NEB):c.7227+2T>C

rs1553448527 
NM_001271208.2(NEB):c.72281G>A

rs1057516996 
NM_001271208.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)

rs1057516348 
NM_001271208.2(NEB):c.74322A>G

rs1553990438 
NM_001271208.2(NEB):c.7647C>G (p.Tyr2549Ter)

rs1373493309 
NM_001271208.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer)

rs1553983416 
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs)

rs398124172 
NM_001271208.2(NEB):c.8038C>T (p.Arg2680Ter)

rs1057516676 
NM_001271208.2(NEB):c.8232A>G

rs1553642811 
NM_001271208.2(NEB):c.83741G>A

rs1180407562 
NM_001271208.2(NEB):c.8392_8395dup (p.Arg2799fs)

rs765403861 
NM_001271208.2(NEB):c.8860del (p.Ala2954fs)

rs1553964158 
NM_001271208.2(NEB):c.8887A>T (p.Lys2963Ter)

rs1553963973 
NM_001271208.2(NEB):c.8889+1G>A

rs1553963960 
NM_001271208.2(NEB):c.8994+2T>C

rs1553962493 
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter)

rs1057517977 
NM_001271208.2(NEB):c.9102+1G>A

rs143644938 
NM_001271208.2(NEB):c.9108del (p.Lys3036fs)

rs1553948395 
NM_001271208.2(NEB):c.9246G>A (p.Trp3082Ter)

rs1553947423 
NM_001271208.2(NEB):c.927+1G>A

rs374562457 
NM_001271208.2(NEB):c.9346G>T (p.Glu3116Ter)

rs193042896 
NM_001271208.2(NEB):c.9414+1G>A

rs1255445731 
NM_001271208.2(NEB):c.9414+1G>T

rs1255445731 
NM_001271208.2(NEB):c.9428C>G (p.Ser3143Ter)

rs1553939806 
NM_001271208.2(NEB):c.9440G>A (p.Trp3147Ter)

rs1553939774 
NM_001271208.2(NEB):c.9457dup (p.Trp3153fs)

rs1553939660 
NM_001271208.2(NEB):c.9459G>A (p.Trp3153Ter)

rs1553939648 
NM_001271208.2(NEB):c.9465del (p.Ile3156fs)

rs1553939600 
NM_001271208.2(NEB):c.9485del (p.Val3162fs)

rs1553939284 
NM_001271208.2(NEB):c.9576del (p.Glu3193fs)

rs1553938571 
NM_001271208.2(NEB):c.96191G>A

rs1390379576 
NM_001271208.2(NEB):c.96192A>G

rs375145370 
NM_001271208.2(NEB):c.97241G>A

rs1553934586 
NM_001271208.2(NEB):c.97242A>G

rs1553934597 
NM_001271208.2(NEB):c.9831+1G>A

rs1553933986 
NM_001271208.2(NEB):c.9943del (p.Asp3315fs)

rs1553930053 
NM_003289.3(TPM2):c.181T>C (p.Ser61Pro)

rs878854363 
NM_003289.3(TPM2):c.269G>A (p.Arg90His)

rs1563929454 
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)


NM_152263.4(TPM3):c.298C>G (p.Leu100Val)

rs121964853 
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)

rs121964854 
Single allele

