ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, spondylodysplastic type by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 624
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HGVS dbSNP gnomAD frequency
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
NM_001128225.3(SLC39A13):c.301+20C>T rs755555 0.27982
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) rs2293576 0.25113
NM_001128225.3(SLC39A13):c.301+15G>A rs61000762 0.20155
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala) rs61897432 0.11400
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
NM_001128225.3(SLC39A13):c.83= (p.Glu28=) rs2010519 0.05174
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412 0.01241
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961 0.00455
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu) rs35978122 0.00270
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=) rs34986695 0.00211
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu) rs568623476 0.00202
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015 0.00193
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=) rs368507303 0.00190
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) rs892958562 0.00109
NM_001128225.3(SLC39A13):c.416-13C>T rs373723938 0.00108
NM_001128225.3(SLC39A13):c.406G>A (p.Ala136Thr) rs141246142 0.00105
NM_001128225.3(SLC39A13):c.646-7T>C rs140597965 0.00087
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722 0.00062
NM_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr) rs138998777 0.00061
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) rs201547600 0.00061
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_001128225.3(SLC39A13):c.696C>T (p.His232=) rs371961000 0.00046
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00045
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=) rs562616873 0.00036
NM_007255.3(B4GALT7):c.634C>T (p.Arg212Trp) rs41284943 0.00031
NM_001128225.3(SLC39A13):c.415+17G>A rs375059400 0.00029
NM_001128225.3(SLC39A13):c.792C>T (p.Gly264=) rs141753455 0.00029
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=) rs368078922 0.00029
NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe) rs61995938 0.00028
NM_001128225.3(SLC39A13):c.1011C>T (p.Leu337=) rs113058610 0.00025
NM_007255.3(B4GALT7):c.49A>G (p.Arg17Gly) rs774824237 0.00025
NM_007255.3(B4GALT7):c.700C>T (p.Arg234Cys) rs139730903 0.00020
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007 0.00020
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_001128225.3(SLC39A13):c.104C>T (p.Pro35Leu) rs374680665 0.00014
NM_001128225.3(SLC39A13):c.416-12C>T rs199512587 0.00014
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683 0.00013
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=) rs140844921 0.00013
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) rs377718922 0.00013
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744 0.00012
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) rs373059256 0.00012
NM_080605.4(B3GALT6):c.477C>T (p.Ser159=) rs370430307 0.00012
NM_080605.4(B3GALT6):c.582G>T (p.Pro194=) rs532162467 0.00012
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00011
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser) rs759357299 0.00011
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met) rs374645024 0.00011
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=) rs397514722 0.00010
NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val) rs766519442 0.00010
NM_001128225.3(SLC39A13):c.919+14G>A rs377290130 0.00009
NM_080605.4(B3GALT6):c.324C>A (p.Ala108=) rs764859016 0.00009
NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu) rs756566189 0.00009
NM_001128225.3(SLC39A13):c.621C>T (p.Leu207=) rs775396957 0.00008
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403 0.00008
NM_001128225.3(SLC39A13):c.948G>A (p.Thr316=) rs531462966 0.00007
NM_080605.4(B3GALT6):c.508C>T (p.Leu170=) rs759484127 0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=) rs772924353 0.00006
NM_001128225.3(SLC39A13):c.1043G>A (p.Arg348His) rs770908923 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001128225.3(SLC39A13):c.786+8C>T rs572017658 0.00006
NM_007255.3(B4GALT7):c.278A>G (p.His93Arg) rs370658610 0.00006
NM_007255.3(B4GALT7):c.553G>A (p.Val185Met) rs137913131 0.00006
NM_007255.3(B4GALT7):c.809G>A (p.Arg270His) rs369752734 0.00006
NM_007255.3(B4GALT7):c.872A>G (p.Lys291Arg) rs751742436 0.00006
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=) rs779285702 0.00006
NM_001128225.3(SLC39A13):c.889G>A (p.Ala297Thr) rs374739509 0.00005
NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val) rs142133113 0.00005
NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr) rs558669120 0.00005
NM_080605.4(B3GALT6):c.859C>T (p.Leu287=) rs766907387 0.00005
NM_001128225.3(SLC39A13):c.1041-15G>A rs762412348 0.00004
NM_001128225.3(SLC39A13):c.1046C>T (p.Ser349Phe) rs376076637 0.00004
NM_001128225.3(SLC39A13):c.116G>A (p.Ser39Asn) rs775918761 0.00004
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp) rs368796707 0.00004
NM_001128225.3(SLC39A13):c.132G>A (p.Thr44=) rs201425631 0.00004
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=) rs753665968 0.00004
NM_001128225.3(SLC39A13):c.23G>T (p.Gly8Val) rs779570378 0.00004
NM_001128225.3(SLC39A13):c.314G>A (p.Arg105His) rs762900525 0.00004
NM_001128225.3(SLC39A13):c.336C>T (p.Phe112=) rs751302246 0.00004
NM_001128225.3(SLC39A13):c.381C>T (p.Pro127=) rs780281875 0.00004
NM_001128225.3(SLC39A13):c.432C>T (p.Ser144=) rs755503604 0.00004
NM_001128225.3(SLC39A13):c.491C>T (p.Ala164Val) rs914512778 0.00004
NM_001128225.3(SLC39A13):c.570C>T (p.Ala190=) rs767677018 0.00004
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189 0.00004
NM_001128225.3(SLC39A13):c.651C>T (p.Ser217=) rs752707598 0.00004
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr) rs370516835 0.00004
NM_001128225.3(SLC39A13):c.919+7G>A rs752106866 0.00004
NM_001128225.3(SLC39A13):c.919+9G>A rs767725133 0.00004
NM_001128225.3(SLC39A13):c.933C>T (p.Pro311=) rs374590960 0.00004
NM_001128225.3(SLC39A13):c.934G>A (p.Ala312Thr) rs749499150 0.00004
NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val) rs754558033 0.00004
NM_001128225.3(SLC39A13):c.972C>T (p.Thr324=) rs774905397 0.00004
NM_007255.3(B4GALT7):c.302T>C (p.Phe101Ser) rs771088509 0.00004
NM_007255.3(B4GALT7):c.698G>A (p.Arg233Gln) rs780268052 0.00004
NM_080605.4(B3GALT6):c.10C>T (p.Leu4=) rs928368471 0.00004
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) rs786200938 0.00004
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=) rs547484259 0.00004
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr) rs746174922 0.00004
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys) rs1267101770 0.00004
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys) rs766701277 0.00003
NM_001128225.3(SLC39A13):c.183C>T (p.Ser61=) rs768720700 0.00003
NM_001128225.3(SLC39A13):c.405C>T (p.Ser135=) rs371063274 0.00003
NM_001128225.3(SLC39A13):c.627C>T (p.Ala209=) rs768982611 0.00003
NM_001128225.3(SLC39A13):c.736-18C>T rs761758087 0.00003
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662 0.00003
NM_001128225.3(SLC39A13):c.919+4C>T rs368667805 0.00003
NM_001128225.3(SLC39A13):c.930T>C (p.Ser310=) rs371311030 0.00003
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser) rs138496419 0.00003
NM_080605.4(B3GALT6):c.147C>A (p.Pro49=) rs1204837935 0.00003
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=) rs963500907 0.00003
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser) rs1057522880 0.00003
NM_080605.4(B3GALT6):c.576C>T (p.Val192=) rs762952410 0.00003
NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val) rs778444849 0.00003
NM_080605.4(B3GALT6):c.667G>A (p.Asp223Asn) rs548246291 0.00003
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met) rs775252357 0.00003
NM_001128225.3(SLC39A13):c.1041-5C>G rs765891564 0.00002
NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp) rs149930229 0.00002
NM_001128225.3(SLC39A13):c.191G>A (p.Arg64Gln) rs368519440 0.00002
NM_001128225.3(SLC39A13):c.286A>G (p.Met96Val) rs895559794 0.00002
NM_001128225.3(SLC39A13):c.302-7C>G rs746687344 0.00002
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val) rs556023069 0.00002
NM_001128225.3(SLC39A13):c.38G>T (p.Gly13Val) rs148165667 0.00002
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly) rs377518253 0.00002
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp) rs750069673 0.00002
NM_001128225.3(SLC39A13):c.615C>T (p.Pro205=) rs147495812 0.00002
NM_001128225.3(SLC39A13):c.795C>T (p.Asp265=) rs762829962 0.00002
NM_007255.3(B4GALT7):c.128T>G (p.Phe43Cys) rs370483831 0.00002
NM_007255.3(B4GALT7):c.362G>C (p.Arg121Thr) rs781467817 0.00002
NM_007255.3(B4GALT7):c.79C>T (p.Arg27Trp) rs947051343 0.00002
NM_007255.3(B4GALT7):c.94T>A (p.Phe32Ile) rs1043221348 0.00002
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) rs1490617023 0.00002
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=) rs933332160 0.00002
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) rs1039242906 0.00002
NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) rs762606889 0.00002
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln) rs750182732 0.00002
NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys) rs886138913 0.00002
NM_080605.4(B3GALT6):c.554T>G (p.Phe185Cys) rs771306094 0.00002
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=) rs1200418637 0.00002
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=) rs981250392 0.00002
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857 0.00001
NM_001128225.3(SLC39A13):c.1101G>A (p.Ser367=) rs1404886730 0.00001
NM_001128225.3(SLC39A13):c.1108G>A (p.Val370Met) rs772789507 0.00001
NM_001128225.3(SLC39A13):c.1116A>G (p.Ter372=) rs762617893 0.00001
NM_001128225.3(SLC39A13):c.113G>A (p.Arg38Gln) rs770839268 0.00001
NM_001128225.3(SLC39A13):c.128C>T (p.Ala43Val) rs762413647 0.00001
NM_001128225.3(SLC39A13):c.140G>A (p.Arg47His) rs754538699 0.00001
NM_001128225.3(SLC39A13):c.149A>G (p.Asn50Ser) rs563652715 0.00001
NM_001128225.3(SLC39A13):c.184G>A (p.Gly62Arg) rs200726045 0.00001
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_001128225.3(SLC39A13):c.234G>A (p.Val78=) rs140298838 0.00001
NM_001128225.3(SLC39A13):c.249C>T (p.Val83=) rs1314433275 0.00001
NM_001128225.3(SLC39A13):c.284C>T (p.Thr95Ile) rs1317018795 0.00001
NM_001128225.3(SLC39A13):c.292C>T (p.Arg98Cys) rs369854018 0.00001
NM_001128225.3(SLC39A13):c.302-17G>A rs775872862 0.00001
NM_001128225.3(SLC39A13):c.313C>T (p.Arg105Cys) rs374468349 0.00001
NM_001128225.3(SLC39A13):c.31A>G (p.Met11Val) rs768592866 0.00001
NM_001128225.3(SLC39A13):c.348A>G (p.Gly116=) rs202080209 0.00001
NM_001128225.3(SLC39A13):c.355G>T (p.Gly119Cys) rs892859231 0.00001
NM_001128225.3(SLC39A13):c.392C>T (p.Ala131Val) rs370161381 0.00001
NM_001128225.3(SLC39A13):c.399G>A (p.Thr133=) rs539165797 0.00001
NM_001128225.3(SLC39A13):c.427C>T (p.Gln143Ter) rs752159748 0.00001
NM_001128225.3(SLC39A13):c.477C>T (p.Ile159=) rs778348255 0.00001
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val) rs2096004287 0.00001
NM_001128225.3(SLC39A13):c.513C>T (p.Asp171=) rs775273374 0.00001
NM_001128225.3(SLC39A13):c.531C>T (p.Thr177=) rs370685869 0.00001
NM_001128225.3(SLC39A13):c.537+13C>T rs1198805632 0.00001
NM_001128225.3(SLC39A13):c.572C>T (p.Ala191Val) rs200688736 0.00001
NM_001128225.3(SLC39A13):c.578A>G (p.Asn193Ser) rs746264976 0.00001
NM_001128225.3(SLC39A13):c.589T>C (p.Cys197Arg) rs779407804 0.00001
NM_001128225.3(SLC39A13):c.603G>A (p.Pro201=) rs372236399 0.00001
NM_001128225.3(SLC39A13):c.609A>G (p.Ala203=) rs774755322 0.00001
NM_001128225.3(SLC39A13):c.645+16A>G rs772265206 0.00001
NM_001128225.3(SLC39A13):c.646-13C>T rs773526046 0.00001
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val) rs767784704 0.00001
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro) rs924156969 0.00001
NM_001128225.3(SLC39A13):c.816C>T (p.Ala272=) rs764438635 0.00001
NM_001128225.3(SLC39A13):c.817G>A (p.Gly273Ser) rs199989846 0.00001
NM_001128225.3(SLC39A13):c.823G>C (p.Asp275His) rs1484874346 0.00001
NM_001128225.3(SLC39A13):c.850C>G (p.Leu284Val) rs1300393650 0.00001
NM_001128225.3(SLC39A13):c.874C>T (p.Leu292=) rs747733289 0.00001
NM_001128225.3(SLC39A13):c.879C>T (p.Gly293=) rs1047022550 0.00001
NM_001128225.3(SLC39A13):c.978C>T (p.Gly326=) rs199818224 0.00001
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val) rs1407619087 0.00001
NM_001128225.3(SLC39A13):c.993C>T (p.Ile331=) rs368704328 0.00001
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln) rs568792091 0.00001
NM_007255.3(B4GALT7):c.413+4G>C rs761866281 0.00001
NM_007255.3(B4GALT7):c.413+6G>A rs566517243 0.00001
NM_007255.3(B4GALT7):c.601G>A (p.Gly201Ser) rs935389752 0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601 0.00001
NM_007255.3(B4GALT7):c.767G>A (p.Arg256His) rs764639019 0.00001
NM_007255.3(B4GALT7):c.811A>C (p.Ile271Leu) rs143680535 0.00001
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) rs1481659687 0.00001
NM_007255.3(B4GALT7):c.875A>G (p.Tyr292Cys) rs780922438 0.00001
NM_007255.3(B4GALT7):c.895G>A (p.Ala299Thr) rs771646034 0.00001
NM_007255.3(B4GALT7):c.914C>A (p.Ala305Asp) rs774322603 0.00001
NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) rs1156566104 0.00001
NM_080605.4(B3GALT6):c.171C>T (p.Ala57=) rs1638537998 0.00001
NM_080605.4(B3GALT6):c.189G>A (p.Val63=) rs1471843111 0.00001
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=) rs1305896128 0.00001
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) rs924068844 0.00001
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=) rs1457990186 0.00001
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 0.00001
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=) rs767598361 0.00001
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=) rs750669776 0.00001
NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=) rs1402832925 0.00001
NM_080605.4(B3GALT6):c.414C>T (p.Ala138=) rs1489962435 0.00001
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=) rs1057524131 0.00001
NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly) rs766519442 0.00001
NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys) rs765337103 0.00001
NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser) rs748952705 0.00001
NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys) rs1260565985 0.00001
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_080605.4(B3GALT6):c.549G>A (p.Trp183Ter) rs760986725 0.00001
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=) rs1256336773 0.00001
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=) rs1300221753 0.00001
NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser) rs760685441 0.00001
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=) rs764901184 0.00001
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653 0.00001
NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro) rs777233616 0.00001
NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys) rs397514717 0.00001
NM_080605.4(B3GALT6):c.699C>T (p.Asp233=) rs766274999 0.00001
NM_080605.4(B3GALT6):c.703C>T (p.Leu235=) rs764915085 0.00001
NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe) rs1381077083 0.00001
NM_080605.4(B3GALT6):c.783C>T (p.Arg261=) rs1031675737 0.00001
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) rs374677519 0.00001
NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe) rs1638568014 0.00001
NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu) rs1216124589 0.00001
NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro) rs1434211258 0.00001
NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys) rs1284101388 0.00001
NM_080605.4(B3GALT6):c.951G>A (p.Pro317=) rs1441211766 0.00001
NM_080605.4(B3GALT6):c.957G>T (p.Ser319=) rs914725170 0.00001
NC_000001.10:g.(?_1146915)_(1168668_?)dup
NC_000001.10:g.(?_1167659)_(1168648_?)dup
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.10:g.(?_948954)_(1284445_?)dup
NC_000001.11:g.(?_1013554)_(1313808_?)del
NC_000001.11:g.1232202_1232288del
NC_000005.9:g.(?_176047812)_(177422934_?)del
NC_000005.9:g.(?_177027212)_(177027281_?)del
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met) rs1595887083
NM_001128225.3(SLC39A13):c.1010T>C (p.Leu337Pro) rs2153301868
NM_001128225.3(SLC39A13):c.1037C>G (p.Pro346Arg)
NM_001128225.3(SLC39A13):c.1040+15G>T
NM_001128225.3(SLC39A13):c.1040+18G>A
NM_001128225.3(SLC39A13):c.1040+19G>T
NM_001128225.3(SLC39A13):c.1041-19A>G
NM_001128225.3(SLC39A13):c.1041-5C>A
NM_001128225.3(SLC39A13):c.1044C>T (p.Arg348=)
NM_001128225.3(SLC39A13):c.1051C>T (p.Gln351Ter)
NM_001128225.3(SLC39A13):c.1053G>A (p.Gln351=)
NM_001128225.3(SLC39A13):c.1057C>T (p.Leu353=)
NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=) rs1398817706
NM_001128225.3(SLC39A13):c.1068C>T (p.Leu356=)
NM_001128225.3(SLC39A13):c.1074G>T (p.Ala358=)
NM_001128225.3(SLC39A13):c.1077C>T (p.Gly359=) rs1163501092
NM_001128225.3(SLC39A13):c.1080C>T (p.Ile360=)
NM_001128225.3(SLC39A13):c.108C>T (p.Ala36=) rs2153290859
NM_001128225.3(SLC39A13):c.1093C>T (p.Leu365=) rs2153302063
NM_001128225.3(SLC39A13):c.1094T>C (p.Leu365Pro) rs2096021765
NM_001128225.3(SLC39A13):c.1095G>T (p.Leu365=)
NM_001128225.3(SLC39A13):c.1098C>T (p.Phe366=)
NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)
NM_001128225.3(SLC39A13):c.1100C>T (p.Ser367Leu) rs777112793
NM_001128225.3(SLC39A13):c.1107C>T (p.Phe369=)
NM_001128225.3(SLC39A13):c.111C>T (p.Leu37=) rs777719077
NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=)
NM_001128225.3(SLC39A13):c.131C>T (p.Thr44Met)
NM_001128225.3(SLC39A13):c.133G>A (p.Ala45Thr)
NM_001128225.3(SLC39A13):c.134C>T (p.Ala45Val) rs2095991241
NM_001128225.3(SLC39A13):c.141C>T (p.Arg47=)
NM_001128225.3(SLC39A13):c.153G>A (p.Lys51=) rs529299524
NM_001128225.3(SLC39A13):c.156A>G (p.Glu52=)
NM_001128225.3(SLC39A13):c.163T>C (p.Ser55Pro)
NM_001128225.3(SLC39A13):c.166dup (p.Trp56fs)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.211T>C (p.Ser71Pro) rs983983551
NM_001128225.3(SLC39A13):c.234G>T (p.Val78=) rs140298838
NM_001128225.3(SLC39A13):c.240C>T (p.Leu80=)
NM_001128225.3(SLC39A13):c.255G>A (p.Pro85=) rs145309500
NM_001128225.3(SLC39A13):c.255G>C (p.Pro85=)
NM_001128225.3(SLC39A13):c.255_269del (p.Leu87_Leu91del) rs2095992049
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val) rs754729494
NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=)
NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala) rs2153291853
NM_001128225.3(SLC39A13):c.301+12_301+13del
NM_001128225.3(SLC39A13):c.301+14C>T
NM_001128225.3(SLC39A13):c.301+5G>A rs1351664483
NM_001128225.3(SLC39A13):c.302-18C>T
NM_001128225.3(SLC39A13):c.302-4G>C
NM_001128225.3(SLC39A13):c.302-6T>C
NM_001128225.3(SLC39A13):c.302C>T (p.Ala101Val) rs2153295514
NM_001128225.3(SLC39A13):c.323A>G (p.Gln108Arg) rs1565662802
NM_001128225.3(SLC39A13):c.325C>G (p.Leu109Val) rs146848042
NM_001128225.3(SLC39A13):c.325C>T (p.Leu109=)
NM_001128225.3(SLC39A13):c.352T>C (p.Leu118=)
NM_001128225.3(SLC39A13):c.369G>C (p.Leu123=)
NM_001128225.3(SLC39A13):c.36G>A (p.Ala12=)
NM_001128225.3(SLC39A13):c.377dup (p.Pro127fs)
NM_001128225.3(SLC39A13):c.378G>A (p.Leu126=)
NM_001128225.3(SLC39A13):c.378G>T (p.Leu126=)
NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala) rs148165667
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128225.3(SLC39A13):c.39C>T (p.Gly13=) rs1595877349
NM_001128225.3(SLC39A13):c.402C>T (p.Cys134=)
NM_001128225.3(SLC39A13):c.411C>T (p.Ser137=)
NM_001128225.3(SLC39A13):c.415+11C>T
NM_001128225.3(SLC39A13):c.415+16C>T
NM_001128225.3(SLC39A13):c.415+23_415+39del
NM_001128225.3(SLC39A13):c.415+9G>A rs1595881246
NM_001128225.3(SLC39A13):c.416-11G>A
NM_001128225.3(SLC39A13):c.416-20G>A
NM_001128225.3(SLC39A13):c.416-20_416-16del
NM_001128225.3(SLC39A13):c.420T>C (p.Gly140=)
NM_001128225.3(SLC39A13):c.447A>G (p.Gln149=)
NM_001128225.3(SLC39A13):c.456G>A (p.Gly152=)
NM_001128225.3(SLC39A13):c.459G>A (p.Leu153=)
NM_001128225.3(SLC39A13):c.483_491del (p.Phe162_Ala164del)
NM_001128225.3(SLC39A13):c.492G>A (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.492G>C (p.Ala164=)
NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.497AGA[1] (p.Lys167del)
NM_001128225.3(SLC39A13):c.51C>T (p.Leu17=)
NM_001128225.3(SLC39A13):c.530C>T (p.Thr177Ile) rs1555136368
NM_001128225.3(SLC39A13):c.537+11C>T
NM_001128225.3(SLC39A13):c.537+18G>A
NM_001128225.3(SLC39A13):c.537+19G>A
NM_001128225.3(SLC39A13):c.537+8C>A
NM_001128225.3(SLC39A13):c.537+8C>T
NM_001128225.3(SLC39A13):c.538-12_538-11del
NM_001128225.3(SLC39A13):c.538-13C>T
NM_001128225.3(SLC39A13):c.538-20C>T
NM_001128225.3(SLC39A13):c.540C>T (p.Ala180=)
NM_001128225.3(SLC39A13):c.558T>A (p.Thr186=) rs749530840
NM_001128225.3(SLC39A13):c.567C>T (p.Ala189=)
NM_001128225.3(SLC39A13):c.579T>C (p.Asn193=) rs2096009710
NM_001128225.3(SLC39A13):c.57_58inv (p.Thr20Ala)
NM_001128225.3(SLC39A13):c.582A>T (p.Gly194=)
NM_001128225.3(SLC39A13):c.585C>T (p.Gly195=)
NM_001128225.3(SLC39A13):c.588C>T (p.His196=)
NM_001128225.3(SLC39A13):c.615C>G (p.Pro205=) rs147495812
NM_001128225.3(SLC39A13):c.634C>A (p.Arg212=) rs1242800592
NM_001128225.3(SLC39A13):c.634C>T (p.Arg212Trp)
NM_001128225.3(SLC39A13):c.642C>T (p.Ile214=)
NM_001128225.3(SLC39A13):c.644A>C (p.Lys215Thr) rs765944959
NM_001128225.3(SLC39A13):c.645+20C>T
NM_001128225.3(SLC39A13):c.645+3G>A rs2153299338
NM_001128225.3(SLC39A13):c.645+8G>T
NM_001128225.3(SLC39A13):c.645+9C>A
NM_001128225.3(SLC39A13):c.646-14T>C
NM_001128225.3(SLC39A13):c.648C>A (p.Val216=)
NM_001128225.3(SLC39A13):c.648C>G (p.Val216=)
NM_001128225.3(SLC39A13):c.652G>A (p.Gly218Ser)
NM_001128225.3(SLC39A13):c.681C>T (p.Ile227=) rs768663803
NM_001128225.3(SLC39A13):c.687C>T (p.Asn229=) rs2153299573
NM_001128225.3(SLC39A13):c.693C>T (p.Thr231=) rs2153299580
NM_001128225.3(SLC39A13):c.694C>T (p.His232Tyr)
NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=)
NM_001128225.3(SLC39A13):c.714C>G (p.Ala238=)
NM_001128225.3(SLC39A13):c.730_732AAG[1] (p.Lys245del) rs2153299658
NM_001128225.3(SLC39A13):c.735+8G>A
NM_001128225.3(SLC39A13):c.735+8G>T rs568529293
NM_001128225.3(SLC39A13):c.735+9C>T
NM_001128225.3(SLC39A13):c.736-10C>A
NM_001128225.3(SLC39A13):c.736-13C>T
NM_001128225.3(SLC39A13):c.736-16G>A
NM_001128225.3(SLC39A13):c.750A>C (p.Thr250=) rs756237499
NM_001128225.3(SLC39A13):c.753C>T (p.Thr251=)
NM_001128225.3(SLC39A13):c.786+12T>C
NM_001128225.3(SLC39A13):c.786+15G>A
NM_001128225.3(SLC39A13):c.786+24dup
NM_001128225.3(SLC39A13):c.786+26_786+41dup rs2153301015
NM_001128225.3(SLC39A13):c.786+5G>A rs1331180727
NM_001128225.3(SLC39A13):c.786+7G>A
NM_001128225.3(SLC39A13):c.786+7G>C rs375548129
NM_001128225.3(SLC39A13):c.786+9T>C
NM_001128225.3(SLC39A13):c.787-16C>G
NM_001128225.3(SLC39A13):c.789G>A (p.Val263=) rs747750601
NM_001128225.3(SLC39A13):c.812G>C (p.Arg271Pro) rs376883075
NM_001128225.3(SLC39A13):c.819C>A (p.Gly273=)
NM_001128225.3(SLC39A13):c.834C>T (p.Ser278=)
NM_001128225.3(SLC39A13):c.844C>T (p.Leu282=)
NM_001128225.3(SLC39A13):c.849A>T (p.Gln283His) rs1468079148
NM_001128225.3(SLC39A13):c.861G>A (p.Ala287=)
NM_001128225.3(SLC39A13):c.863T>G (p.Leu288Arg)
NM_001128225.3(SLC39A13):c.86G>A (p.Arg29Lys) rs751210151
NM_001128225.3(SLC39A13):c.875T>G (p.Leu292Arg)
NM_001128225.3(SLC39A13):c.880G>A (p.Ala294Thr)
NM_001128225.3(SLC39A13):c.909C>A (p.Pro303=) rs527684138
NM_001128225.3(SLC39A13):c.919+13C>A
NM_001128225.3(SLC39A13):c.919+13C>T
NM_001128225.3(SLC39A13):c.919+16G>A
NM_001128225.3(SLC39A13):c.919+19G>C rs1203376008
NM_001128225.3(SLC39A13):c.919+19dup rs747836551
NM_001128225.3(SLC39A13):c.919+20_919+32del
NM_001128225.3(SLC39A13):c.919+5G>A
NM_001128225.3(SLC39A13):c.919+8C>T
NM_001128225.3(SLC39A13):c.924G>A (p.Gly308=)
NM_001128225.3(SLC39A13):c.934G>T (p.Ala312Ser)
NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=)
NM_001128225.3(SLC39A13):c.951A>C (p.Ala317=)
NM_001128225.3(SLC39A13):c.972C>A (p.Thr324=)
NM_007255.3(B4GALT7):c.106G>A (p.Val36Met)
NM_007255.3(B4GALT7):c.179_413+354del
NM_007255.3(B4GALT7):c.186G>C (p.Arg62Ser)
NM_007255.3(B4GALT7):c.188G>A (p.Gly63Glu)
NM_007255.3(B4GALT7):c.207G>A (p.Ser69=)
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
NM_007255.3(B4GALT7):c.256G>C (p.Glu86Gln)
NM_007255.3(B4GALT7):c.272_273delinsTT (p.Gly91Val) rs2127511623
NM_007255.3(B4GALT7):c.274C>T (p.Pro92Ser) rs756885469
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) rs926913315
NM_007255.3(B4GALT7):c.29A>T (p.Gln10Leu)
NM_007255.3(B4GALT7):c.316G>A (p.Glu106Lys) rs2127511686
NM_007255.3(B4GALT7):c.319G>C (p.Glu107Gln) rs1767927068
NM_007255.3(B4GALT7):c.340C>A (p.His114Asn) rs753864389
NM_007255.3(B4GALT7):c.343A>G (p.Met115Val)
NM_007255.3(B4GALT7):c.364A>C (p.Lys122Gln) rs201281389
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) rs1370937766
NM_007255.3(B4GALT7):c.400G>A (p.Val134Met) rs2127511771
NM_007255.3(B4GALT7):c.407A>T (p.His136Leu)
NM_007255.3(B4GALT7):c.467C>T (p.Thr156Met)
NM_007255.3(B4GALT7):c.485A>G (p.His162Arg)
NM_007255.3(B4GALT7):c.491T>C (p.Val164Ala) rs1281774679
NM_007255.3(B4GALT7):c.511G>A (p.Glu171Lys)
NM_007255.3(B4GALT7):c.520G>T (p.Asp174Tyr) rs532945440
NM_007255.3(B4GALT7):c.53C>G (p.Ser18Cys)
NM_007255.3(B4GALT7):c.563C>G (p.Pro188Arg) rs149484064
NM_007255.3(B4GALT7):c.658C>A (p.Arg220Ser) rs199905021
NM_007255.3(B4GALT7):c.658C>T (p.Arg220Cys) rs199905021
NM_007255.3(B4GALT7):c.731G>A (p.Arg244His)
NM_007255.3(B4GALT7):c.751G>A (p.Gly251Arg)
NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile) rs1435784513
NM_007255.3(B4GALT7):c.762_763del (p.Phe255fs)
NM_007255.3(B4GALT7):c.7C>T (p.Pro3Ser) rs749515076
NM_007255.3(B4GALT7):c.844G>A (p.Asp282Asn) rs1768115670
NM_007255.3(B4GALT7):c.869T>C (p.Val290Ala)
NM_007255.3(B4GALT7):c.889C>T (p.Arg297Cys) rs749289544
NM_007255.3(B4GALT7):c.910G>A (p.Gly304Arg) rs145082497
NM_007255.3(B4GALT7):c.910G>C (p.Gly304Arg) rs145082497
NM_007255.3(B4GALT7):c.938T>G (p.Met313Arg) rs757174910
NM_007255.3(B4GALT7):c.939G>C (p.Met313Ile) rs778439107
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=) rs1416591096
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val)
NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu)
NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu)
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=) rs868472493
NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp) rs1638529780
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)
NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser)
NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr)
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala) rs1249919137
NM_080605.4(B3GALT6):c.149C>G (p.Pro50Arg) rs1156566104
NM_080605.4(B3GALT6):c.150dup (p.Ala51fs) rs1638536337
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)
NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly) rs1035452129
NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro) rs950488335
NM_080605.4(B3GALT6):c.165C>T (p.Ala55=) rs1278117182
NM_080605.4(B3GALT6):c.168C>T (p.Ala56=)
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.175C>G (p.Leu59Val) rs963500907
NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr) rs1638538307
NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys)
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr) rs2100993440
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)
NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr)
NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser)
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) rs1553151150
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu) rs397514720
NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs) rs2100993446
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=) rs1179179554
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)
NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup) rs1638539426
NM_080605.4(B3GALT6):c.227T>G (p.Ile76Ser) rs1436567011
NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met) rs1174370874
NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3]) rs1553151151
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)
NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=) rs1372150716
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs) rs2100993592
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=) rs1557526065
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)
NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys) rs969701761
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr) rs969701761
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)
NM_080605.4(B3GALT6):c.30G>C (p.Arg10=)
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs) rs2100993072
NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)
NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs) rs1468255826
NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) rs558454078
NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly) rs558454078
NM_080605.4(B3GALT6):c.343C>T (p.Arg115Trp)
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=) rs1224612114
NM_080605.4(B3GALT6):c.347A>G (p.His116Arg) rs1638548585
NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu) rs767598361
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)
NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr)
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=) rs1570498417
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly) rs1478246707
NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=) rs1255662040
NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val) rs2100993852
NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)
NM_080605.4(B3GALT6):c.421del (p.Ala141fs)
NM_080605.4(B3GALT6):c.423C>T (p.Ala141=)
NM_080605.4(B3GALT6):c.443C>T (p.Ala148Val)
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) rs1638552845
NM_080605.4(B3GALT6):c.448G>C (p.Glu150Gln) rs1557526286
NM_080605.4(B3GALT6):c.455T>C (p.Val152Ala)
NM_080605.4(B3GALT6):c.456G>C (p.Val152=)
NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro) rs1638553187
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=) rs753855818
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu) rs2100993929
NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)
NM_080605.4(B3GALT6):c.489G>A (p.Leu163=) rs1305970798
NM_080605.4(B3GALT6):c.48G>A (p.Leu16=) rs1570497749
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs) rs2100993997
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) rs778123798
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly) rs2100994072
NM_080605.4(B3GALT6):c.521_528del (p.Glu174fs)
NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup) rs1057034356
NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)
NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)
NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)
NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)
NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)
NM_080605.4(B3GALT6):c.576C>G (p.Val192=) rs762952410
NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg) rs2100994186
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=) rs532162467
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.585G>A (p.Gly195=) rs562616873
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) rs1405919033
NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys) rs1170976606
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)
NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser) rs1638560291
NM_080605.4(B3GALT6):c.636C>G (p.Tyr212Ter)
NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser) rs866914942
NM_080605.4(B3GALT6):c.651del (p.Tyr218fs) rs2100994328
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)
NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)
NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)
NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)
NM_080605.4(B3GALT6):c.70G>A (p.Ala24Thr)
NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)
NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)
NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly) rs2100994545
NM_080605.4(B3GALT6):c.762C>A (p.Val254=) rs2100994568
NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)
NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr)
NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro) rs1553151166
NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp)
NM_080605.4(B3GALT6):c.79C>T (p.Leu27Phe)
NM_080605.4(B3GALT6):c.805C>T (p.Arg269Cys)
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn) rs2100994661
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=) rs1334196295
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=) rs1471341896
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)
NM_080605.4(B3GALT6):c.84C>G (p.Tyr28Ter)
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val) rs2100994726
NM_080605.4(B3GALT6):c.859C>G (p.Leu287Val)
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) rs1329926209
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=) rs1638533336
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu) rs988906237
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)
NM_080605.4(B3GALT6):c.980dup (p.Ile328fs) rs1339079870
NM_080605.4(B3GALT6):c.986C>T (p.Pro329Leu)
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)

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