ClinVar Miner

List of variants studied for primary hyperoxaluria

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 935
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.846+170C>T rs4675793 0.98913
NM_012203.2(GRHPR):c.404+291T>C rs2768657 0.97430
NM_012203.2(GRHPR):c.288-11C>T rs2736664 0.92549
NM_012203.2(GRHPR):c.494-68A>G rs309459 0.86126
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
NM_000030.3(AGXT):c.777-44A>G rs12464426 0.79262
NM_000030.3(AGXT):c.*289A>C rs4344931 0.74589
NM_012203.2(GRHPR):c.404+153T>C rs2768658 0.60907
NM_000030.3(AGXT):c.846+52G>A rs12695032 0.43208
NM_138413.4(HOGA1):c.*445A>G rs1812286 0.40584
NM_138413.4(HOGA1):c.*711G>A rs11189295 0.40516
NM_138413.4(HOGA1):c.*498G>A rs2018017 0.40451
NM_138413.4(HOGA1):c.*355C>T rs1977642 0.40312
NM_000030.3(AGXT):c.595+100G>A rs12997245 0.35955
NM_138413.4(HOGA1):c.835-120A>G rs1124116 0.34185
NM_000030.3(AGXT):c.777-45C>T rs12478859 0.32606
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_000030.3(AGXT):c.943-117C>T rs10199038 0.30790
NM_000030.3(AGXT):c.846+199G>A rs13030904 0.30492
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_000030.3(AGXT):c.524+91C>T rs10196315 0.29513
NM_012203.2(GRHPR):c.-92C>T rs4878690 0.27923
NM_138413.4(HOGA1):c.*313A>C rs933057 0.26438
NM_138413.4(HOGA1):c.212-21A>G rs11817730 0.19877
NM_138413.4(HOGA1):c.700+67G>A rs2297643 0.16278
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000030.3(AGXT):c.942+127C>T rs111576306 0.15015
NM_000030.3(AGXT):c.680+17C>T rs11693280 0.14843
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_138413.4(HOGA1):c.469-25C>T rs7078003 0.14530
NM_012203.2(GRHPR):c.579= (p.Ala193=) rs309458 0.14193
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_000030.3(AGXT):c.847-83G>T rs11894759 0.12217
NM_138413.4(HOGA1):c.469-31C>T rs75929214 0.09102
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_012203.2(GRHPR):c.*146A>G rs1057507 0.03576
NM_138413.4(HOGA1):c.*360C>T rs114372258 0.03441
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_138413.4(HOGA1):c.-279G>A rs41309988 0.02511
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_000030.2(AGXT):c.-46G>A rs73106672 0.02150
NM_138413.4(HOGA1):c.834+42G>T rs115279832 0.01504
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_000030.3(AGXT):c.681-94G>A rs141154272 0.01343
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324 0.01219
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_138413.4(HOGA1):c.777G>A (p.Thr259=) rs34820265 0.01024
NM_012203.2(GRHPR):c.493+9C>T rs41303225 0.00873
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_138413.4(HOGA1):c.*94C>T rs116711005 0.00688
NM_000030.3(AGXT):c.680+130C>T rs78178548 0.00508
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_012203.2(GRHPR):c.493+27C>T rs146896070 0.00432
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148 0.00394
NM_138413.4(HOGA1):c.700+7C>T rs57616820 0.00367
NM_138413.4(HOGA1):c.*101C>T rs41290458 0.00319
NM_000030.3(AGXT):c.424-16G>A rs74895925 0.00239
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000030.3(AGXT):c.680+75G>A rs117619103 0.00233
NM_000030.3(AGXT):c.423+45T>G rs117357855 0.00232
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000030.3(AGXT):c.423+29C>T rs117043148 0.00230
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110 0.00143
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_138413.4(HOGA1):c.*68C>T rs551593998 0.00112
NM_000030.3(AGXT):c.573C>T (p.Thr191=) rs146483092 0.00108
NM_012203.2(GRHPR):c.598+145G>T rs72739643 0.00108
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00095
NM_138413.4(HOGA1):c.*425T>C rs189957405 0.00092
NM_000030.3(AGXT):c.166-56C>T rs114401766 0.00090
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003 0.00088
NM_012203.2(GRHPR):c.234C>T (p.Ile78=) rs143337459 0.00082
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) rs141800325 0.00078
NM_000030.3(AGXT):c.805C>T (p.Leu269=) rs151131723 0.00070
NM_138413.4(HOGA1):c.708G>T (p.Val236=) rs61731946 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000030.3(AGXT):c.*39G>A rs369979466 0.00061
NM_138413.4(HOGA1):c.*950G>A rs190392004 0.00058
NM_138413.4(HOGA1):c.*292C>T rs771988623 0.00056
NM_138413.4(HOGA1):c.*850G>T rs560555907 0.00055
NM_138413.4(HOGA1):c.*55T>C rs763365957 0.00052
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188 0.00051
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180 0.00044
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000030.3(AGXT):c.165+40A>C rs57017537 0.00038
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) rs180177191 0.00038
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450 0.00038
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00036
NM_138413.4(HOGA1):c.*289C>T rs540860054 0.00035
NM_138413.4(HOGA1):c.701-18G>C rs201596675 0.00034
NM_000030.3(AGXT):c.165+44T>A rs58120546 0.00033
NM_012203.2(GRHPR):c.*24G>A rs202111075 0.00031
NM_138413.4(HOGA1):c.603+19G>A rs370990433 0.00031
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556 0.00030
NM_012203.2(GRHPR):c.387C>A (p.Ala129=) rs529454212 0.00028
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) rs369339903 0.00025
NM_012203.2(GRHPR):c.345A>T (p.Ala115=) rs147053190 0.00024
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) rs199560759 0.00024
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe) rs202120724 0.00024
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr) rs201630144 0.00021
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535 0.00019
NM_012203.2(GRHPR):c.381G>A (p.Pro127=) rs151336686 0.00019
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00019
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) rs142835989 0.00018
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr) rs573292460 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000030.3(AGXT):c.524+6C>A rs770992934 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_138413.4(HOGA1):c.579G>A (p.Val193=) rs142057128 0.00016
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile) rs189919790 0.00016
NM_138413.4(HOGA1):c.771C>T (p.Cys257=) rs550989147 0.00015
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319 0.00014
NM_138413.4(HOGA1):c.*593G>A rs564823369 0.00014
NM_138413.4(HOGA1):c.*290G>A rs144890621 0.00013
NM_000030.3(AGXT):c.596-7T>C rs368799073 0.00012
NM_000030.3(AGXT):c.1071+12C>T rs375775541 0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245 0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) rs150805048 0.00011
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln) rs146603229 0.00011
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_138413.4(HOGA1):c.594C>T (p.Ser198=) rs374733151 0.00011
NM_138413.4(HOGA1):c.700+9C>T rs375091787 0.00011
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr) rs116527624 0.00010
NM_138413.4(HOGA1):c.934G>A (p.Ala312Thr) rs115431683 0.00010
NM_000030.3(AGXT):c.942+12C>G rs202001799 0.00009
NM_138413.4(HOGA1):c.*1047T>C rs537101942 0.00009
NM_138413.4(HOGA1):c.284G>A (p.Arg95His) rs754634699 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587 0.00008
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) rs370395134 0.00008
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) rs185747820 0.00008
NM_138413.4(HOGA1):c.*550A>G rs991121870 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012203.2(GRHPR):c.180C>T (p.Ser60=) rs139689525 0.00007
NM_012203.2(GRHPR):c.846C>G (p.Leu282=) rs146293016 0.00007
NM_138413.4(HOGA1):c.*186C>T rs576078709 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_000030.3(AGXT):c.*160G>A rs776483024 0.00006
NM_000030.3(AGXT):c.1002C>T (p.Asp334=) rs370897272 0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.214A>C (p.Asn72His) rs754637713 0.00006
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000030.3(AGXT):c.762C>T (p.Asp254=) rs375038017 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000030.3(AGXT):c.888G>A (p.Ala296=) rs979513298 0.00006
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala) rs761847384 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012203.2(GRHPR):c.84-4G>A rs778578725 0.00006
NM_138413.4(HOGA1):c.424C>T (p.Arg142Cys) rs201450556 0.00006
NM_138413.4(HOGA1):c.802C>T (p.Leu268=) rs201910899 0.00006
NM_138413.4(HOGA1):c.828C>T (p.Asn276=) rs201683794 0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 0.00006
NM_000030.3(AGXT):c.1170G>A (p.Lys390=) rs899277137 0.00005
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_012203.2(GRHPR):c.342C>T (p.Leu114=) rs374108537 0.00005
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00005
NM_138413.4(HOGA1):c.*352T>C rs545072905 0.00005
NM_138413.4(HOGA1):c.701-7C>T rs372897096 0.00005
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln) rs201145417 0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000030.3(AGXT):c.795C>T (p.Pro265=) rs760015739 0.00004
NM_000030.3(AGXT):c.930C>T (p.Phe310=) rs886055842 0.00004
NM_012203.2(GRHPR):c.255C>T (p.Ile85=) rs372985143 0.00004
NM_012203.2(GRHPR):c.384G>A (p.Glu128=) rs372351685 0.00004
NM_138413.4(HOGA1):c.216C>T (p.Phe72=) rs780606715 0.00004
NM_138413.4(HOGA1):c.269T>A (p.Leu90His) rs373226228 0.00004
NM_138413.4(HOGA1):c.309C>T (p.Asn103=) rs772566254 0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe) rs745919223 0.00004
NM_138413.4(HOGA1):c.538G>A (p.Val180Met) rs114177505 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_000030.3(AGXT):c.-14G>A rs376396832 0.00003
NM_000030.3(AGXT):c.1071+13G>A rs758413374 0.00003
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) rs180177173 0.00003
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188 0.00003
NM_000030.3(AGXT):c.423+12G>A rs574091775 0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227 0.00003
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00003
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_012203.2(GRHPR):c.215-13_215-7del rs780759944 0.00003
NM_012203.2(GRHPR):c.252C>A (p.Gly84=) rs139595138 0.00003
NM_012203.2(GRHPR):c.554G>A (p.Arg185His) rs1327662246 0.00003
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met) rs750954346 0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) rs180177323 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His) rs750974539 0.00003
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736 0.00003
NM_138413.4(HOGA1):c.909C>T (p.Arg303=) rs764469579 0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000030.3(AGXT):c.942+14T>G rs886055843 0.00002
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) rs370733771 0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu) rs74692381 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012203.2(GRHPR):c.866-2A>G rs200316691 0.00002
NM_138413.4(HOGA1):c.*109C>T rs534886813 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) rs200529020 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 0.00002
NM_138413.4(HOGA1):c.39G>A (p.Gly13=) rs200127255 0.00002
NM_000030.3(AGXT):c.*285G>A rs567385270 0.00001
NM_000030.3(AGXT):c.*52C>G rs547538869 0.00001
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr) rs749568989 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246 0.00001
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro) rs180177165 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168 0.00001
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu) rs180177170 0.00001
NM_000030.3(AGXT):c.172G>A (p.Asp58Asn) rs774651961 0.00001
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) rs767586362 0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile) rs113879010 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) rs180177192 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.358+2T>G rs113681235 0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000030.3(AGXT):c.371A>C (p.His124Pro) rs180177211 0.00001
NM_000030.3(AGXT):c.375G>C (p.Pro125=) rs754716643 0.00001
NM_000030.3(AGXT):c.40C>T (p.Leu14=) rs2058975287 0.00001
NM_000030.3(AGXT):c.450G>A (p.Leu150=) rs752385061 0.00001
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) rs180177230 0.00001
NM_000030.3(AGXT):c.510G>A (p.Gly170=) rs965707125 0.00001
NM_000030.3(AGXT):c.525-1G>A rs180177234 0.00001
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450 0.00001
NM_000030.3(AGXT):c.596-10C>T rs890462970 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246 0.00001
NM_000030.3(AGXT):c.660C>T (p.Ile220=) rs780078312 0.00001
NM_000030.3(AGXT):c.676G>A (p.Ala226Thr) rs749577985 0.00001
NM_000030.3(AGXT):c.679_680+2del rs180177255 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.783T>A (p.His261Gln) rs180177269 0.00001
NM_000030.3(AGXT):c.846+1G>T rs180177281 0.00001
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00001
NM_000030.3(AGXT):c.882C>T (p.Ala294=) rs757494386 0.00001
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys) rs886055841 0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294 0.00001
NM_000030.3(AGXT):c.942G>A (p.Pro314=) rs553429935 0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301 0.00001
NM_000030.3(AGXT):c.981C>T (p.Pro327=) rs760409952 0.00001
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304 0.00001
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln) rs760538945 0.00001
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) rs180177305 0.00001
NM_012203.2(GRHPR):c.214+1G>T rs1244822375 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312 0.00001
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) rs760782027 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu) rs1823271331 0.00001
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val) rs771231175 0.00001
NM_012203.2(GRHPR):c.636C>T (p.Ile212=) rs548848730 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly) rs180177318 0.00001
NM_012203.2(GRHPR):c.743T>A (p.Val248Asp) rs796052079 0.00001
NM_012203.2(GRHPR):c.756C>T (p.Asp252=) rs777753552 0.00001
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu) rs770585067 0.00001
NM_012203.2(GRHPR):c.762G>A (p.Leu254=) rs201872828 0.00001
NM_012203.2(GRHPR):c.771C>T (p.Ala257=) rs367671150 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr) rs758049256 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064 0.00001
NM_138413.4(HOGA1):c.-224G>A rs1176162564 0.00001
NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) rs746419489 0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309 0.00001
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala) rs1380918472 0.00001
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) rs267606763 0.00001
NM_138413.4(HOGA1):c.212-6T>C rs372066473 0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084 0.00001
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys) rs772441887 0.00001
NM_138413.4(HOGA1):c.260G>C (p.Ser87Thr) rs1167209340 0.00001
NM_138413.4(HOGA1):c.290G>A (p.Arg97His) rs752252343 0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958 0.00001
NM_138413.4(HOGA1):c.317T>A (p.Leu106Gln) rs892512382 0.00001
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser) rs778696295 0.00001
NM_138413.4(HOGA1):c.341-1G>A rs1554874130 0.00001
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val) rs374367160 0.00001
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala) rs776292240 0.00001
NM_138413.4(HOGA1):c.420C>T (p.Tyr140=) rs749899995 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln) rs796052090 0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00001
NM_138413.4(HOGA1):c.832G>A (p.Ala278Thr) rs748335042 0.00001
NM_138413.4(HOGA1):c.834+1G>T rs749315029 0.00001
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) rs756489804 0.00001
NM_138413.4(HOGA1):c.841C>T (p.Arg281Trp) rs764224799 0.00001
NM_138413.4(HOGA1):c.933C>T (p.Pro311=) rs561984280 0.00001
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser) rs777046879 0.00001
Multiple alleles
NC_000002.11:g.241816942_241835597del
NC_000002.12:g.(?_239048168)_(240879119_?)del
NG_008005.1:g.(14407_14970)_(15375_?)del
NG_008005.1:g.(7706_9235)_(15375_?)del
NG_008005.1:g.(?_5001)_(11460_12190)del
NG_008005.1:g.(?_5001)_(9305_10233)del
NG_008005.1:g.8384_8763AACATGCAGGNGGAGGAGGGTGAGAGTTCGTG[29-32]
NM_000030.2(AGXT):c.1072_1079del
NM_000030.2(AGXT):c.[299_307dup;308G>A]
NM_000030.2(AGXT):c.[829_830insA;830C>A]
NM_000030.2:c.1_524del
NM_000030.3(AGXT):c.*162A>G rs886055844
NM_000030.3(AGXT):c.*194A>T rs2059043450
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.-24C>G rs192950967
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter) rs756437332
NM_000030.3(AGXT):c.1036G>A (p.Glu346Lys)
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser) rs796052065
NM_000030.3(AGXT):c.1045_1046delinsAA (p.Gly349Asn)
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp) rs2059038329
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1065G>C (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1071+1G>A rs180177158
NM_000030.3(AGXT):c.1072-1G>A
NM_000030.3(AGXT):c.1072-2A>G
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr) rs180177163
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs) rs796052075
NM_000030.3(AGXT):c.1120G>C (p.Asp374His)
NM_000030.3(AGXT):c.1125_1126del (p.Val376fs) rs180177164
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp) rs796052066
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
NM_000030.3(AGXT):c.121G>T (p.Gly41Trp)
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu) rs180177168
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
NM_000030.3(AGXT):c.165+12G>C rs201989825
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000030.3(AGXT):c.165+1G>T
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
NM_000030.3(AGXT):c.166-1G>A rs180177177
NM_000030.3(AGXT):c.166-1_172dup
NM_000030.3(AGXT):c.166-47T>C rs180177178
NM_000030.3(AGXT):c.166-54C>T rs180177179
NM_000030.3(AGXT):c.166-57C>T rs180177175
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu) rs761756536
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) rs180177181
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.205C>T (p.Gln69Ter) rs180177182
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn) rs796052058
NM_000030.3(AGXT):c.215dup (p.Asn72fs) rs796052069
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.224C>A (p.Thr75Lys)
NM_000030.3(AGXT):c.224del (p.Thr75fs)
NM_000030.3(AGXT):c.22G>C (p.Val8Leu) rs796052057
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) rs180177184
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) rs180177185
NM_000030.3(AGXT):c.245G>C (p.Gly82Ala)
NM_000030.3(AGXT):c.245_249delinsAGA (p.Gly82fs)
NM_000030.3(AGXT):c.248A>G (p.His83Arg) rs180177186
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) rs2058978388
NM_000030.3(AGXT):c.252_253del (p.Ala85fs)
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp) rs796052059
NM_000030.3(AGXT):c.259del (p.Glu87fs)
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) rs1553648333
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
NM_000030.3(AGXT):c.276del (p.Asn92fs) rs180177187
NM_000030.3(AGXT):c.278_279insCACACTT (p.Leu94fs)
NM_000030.3(AGXT):c.279del (p.Leu94fs)
NM_000030.3(AGXT):c.27C>G (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys) rs180177189
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup) rs180177190
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)
NM_000030.3(AGXT):c.28C>G (p.Pro10Ala) rs180177191
NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal) rs180177193
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn) rs180177194
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.305T>A (p.Val102Asp) rs1304689724
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) rs375712696
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs) rs2106427288
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter) rs180177198
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) rs796052060
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
NM_000030.3(AGXT):c.326G>T (p.Gly109Val) rs180177199
NM_000030.3(AGXT):c.327del (p.Gln110fs) rs180177200
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.32_33del (p.Pro11fs) rs180177201
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) rs180177202
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) rs796052061
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly) rs1395056195
NM_000030.3(AGXT):c.346G>T (p.Gly116Trp)
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) rs180177208
NM_000030.3(AGXT):c.349dup (p.Glu117fs)
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
NM_000030.3(AGXT):c.353G>C (p.Arg118Pro)
NM_000030.3(AGXT):c.358+163G>T rs11681134
NM_000030.3(AGXT):c.358+1G>T rs796052067
NM_000030.3(AGXT):c.358+56_358+64del rs180177209
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter) rs747043550
NM_000030.3(AGXT):c.359-1_382del rs796052070
NM_000030.3(AGXT):c.359-2A>G
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) rs2058986184
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
NM_000030.3(AGXT):c.389del (p.Pro130fs)
NM_000030.3(AGXT):c.3G>T (p.Met1Ile) rs180177213
NM_000030.3(AGXT):c.402C>G (p.Tyr134Ter)
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) rs1553648488
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter) rs180177214
NM_000030.3(AGXT):c.40dup (p.Leu14fs)
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) rs2058986411
NM_000030.3(AGXT):c.416_418del (p.Val139del) rs180177215
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423+2T>C
NM_000030.3(AGXT):c.423+36A>C rs180177216
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.424-12dup rs398122323
NM_000030.3(AGXT):c.424-2A>G rs180177219
NM_000030.3(AGXT):c.433del (p.Gln145fs)
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) rs1193344118
NM_000030.3(AGXT):c.445del (p.Val149fs) rs180177220
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.449T>C (p.Leu150Pro) rs180177222
NM_000030.3(AGXT):c.457T>G (p.Leu153Val) rs180177223
NM_000030.3(AGXT):c.458T>A (p.Leu153Ter)
NM_000030.3(AGXT):c.460del (p.Thr154fs) rs180177224
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
NM_000030.3(AGXT):c.469G>T (p.Glu157Ter)
NM_000030.3(AGXT):c.469del (p.Glu157fs)
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter) rs180177225
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg) rs180177227
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
NM_000030.3(AGXT):c.483C>G (p.Gly161=) rs757583201
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu) rs528938116
NM_000030.3(AGXT):c.506T>C (p.Phe169Ser)
NM_000030.3(AGXT):c.507_508insA (p.Gly170fs) rs2106428645
NM_000030.3(AGXT):c.508G>C (p.Gly170Arg)
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg) rs2106428650
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr) rs180177231
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) rs180177232
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) rs180177233
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.524+3G>A rs886055839
NM_000030.3(AGXT):c.525-2A>T
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) rs1400552764
NM_000030.3(AGXT):c.536T>C (p.Leu179Pro)
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.551C>A (p.Ser184Ter)
NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg) rs180177237
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
NM_000030.3(AGXT):c.560_561insGGT (p.Ser187_Leu188insVal)
NM_000030.3(AGXT):c.568G>C (p.Gly190Arg)
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
NM_000030.3(AGXT):c.570del (p.Thr191fs) rs180177240
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.577dup (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
NM_000030.3(AGXT):c.583A>C (p.Met195Leu) rs180177243
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.593A>C (p.Gln198Pro)
NM_000030.3(AGXT):c.595+1G>A
NM_000030.3(AGXT):c.595+1G>T
NM_000030.3(AGXT):c.595+2T>G
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) rs796052062
NM_000030.3(AGXT):c.596-1G>A
NM_000030.3(AGXT):c.596-2A>G rs180177245
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
NM_000030.3(AGXT):c.598A>G (p.Ile200Val)
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
NM_000030.3(AGXT):c.605T>A (p.Ile202Asn) rs536352238
NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter) rs180177247
NM_000030.3(AGXT):c.614C>A (p.Ser205Ter) rs180177248
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) rs180177248
NM_000030.3(AGXT):c.622C>T (p.Gln208Ter)
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
NM_000030.3(AGXT):c.628G>C (p.Ala210Pro) rs180177250
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
NM_000030.3(AGXT):c.638C>T (p.Ala213Val)
NM_000030.3(AGXT):c.642_645del (p.Pro215fs) rs180177251
NM_000030.3(AGXT):c.642del (p.Pro215fs) rs2106429906
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter) rs180177253
NM_000030.3(AGXT):c.658A>T (p.Ile220Phe)
NM_000030.3(AGXT):c.661T>C (p.Ser221Pro) rs180177254
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.680+1G>A rs111996685
NM_000030.3(AGXT):c.680+1G>C rs111996685
NM_000030.3(AGXT):c.680+1G>T
NM_000030.3(AGXT):c.680+2T>A rs111742810
NM_000030.3(AGXT):c.680+3G>C
NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA rs1553648931
NM_000030.3(AGXT):c.680+5G>C rs180177256
NM_000030.3(AGXT):c.681-1G>A
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.682_683delAA (p.Lys228fs)
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup) rs1553648979
NM_000030.3(AGXT):c.693C>G (p.Tyr231Ter)
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) rs121908527
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
NM_000030.3(AGXT):c.710C>T (p.Pro237Leu)
NM_000030.3(AGXT):c.716_718del (p.Ser239del)
NM_000030.3(AGXT):c.719_721del (p.Phe240del)
NM_000030.3(AGXT):c.725dup (p.Asp243fs) rs180177257
NM_000030.3(AGXT):c.727G>C (p.Asp243His) rs180177258
NM_000030.3(AGXT):c.731T>A (p.Ile244Asn)
NM_000030.3(AGXT):c.733_734del (p.Lys245fs)
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) rs121908528
NM_000030.3(AGXT):c.744del (p.Asn249fs) rs180177261
NM_000030.3(AGXT):c.74T>G (p.Leu25Arg) rs180177262
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) rs796052072
NM_000030.3(AGXT):c.753G>A (p.Trp251Ter) rs180177263
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) rs180177264
NM_000030.3(AGXT):c.766del (p.Gln256fs)
NM_000030.3(AGXT):c.774G>T (p.Arg258Ser)
NM_000030.3(AGXT):c.776+1G>A rs180177265
NM_000030.3(AGXT):c.776+1G>C rs180177265
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.777-2A>G rs796052068
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) rs180177268
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs) rs180177270
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.809A>G (p.Tyr270Cys)
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)
NM_000030.3(AGXT):c.815T>C (p.Leu272Pro)
NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) rs180177272
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.824G>A (p.Ser275Asn) rs767607960
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
NM_000030.3(AGXT):c.827T>A (p.Leu276Gln)
NM_000030.3(AGXT):c.830delinsAA (p.Ala277fs)
NM_000030.3(AGXT):c.834del (p.Ile279fs) rs180177276
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.3(AGXT):c.838del (p.Ala280fs) rs2106430924
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.83del (p.Pro28fs) rs180177278
NM_000030.3(AGXT):c.840G>A (p.Ala280=) rs143295006
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter) rs180177279
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) rs180177280
NM_000030.3(AGXT):c.846+1G>A rs180177281
NM_000030.3(AGXT):c.846+646_942+139del
NM_000030.3(AGXT):c.846G>C (p.Gln282His) rs180177284
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.848del
NM_000030.3(AGXT):c.851T>C (p.Leu284Pro) rs180177287
NM_000030.3(AGXT):c.853G>T (p.Glu285Ter) rs180177288
NM_000030.3(AGXT):c.860_861delinsCG (p.Ser287Thr) rs180177289
NM_000030.3(AGXT):c.872A>C (p.His291Pro)
NM_000030.3(AGXT):c.876C>A (p.Arg292=) rs763852365
NM_000030.3(AGXT):c.883GCG[1] (p.Ala296del) rs180177291
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.893T>C (p.Leu298Pro) rs180177293
NM_000030.3(AGXT):c.910del (p.Ala304fs)
NM_000030.3(AGXT):c.919del (p.Leu307fs) rs180177295
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter) rs180177296
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
NM_000030.3(AGXT):c.942+1G>A rs180177297
NM_000030.3(AGXT):c.942+1G>T rs180177297
NM_000030.3(AGXT):c.943-1G>A rs180177298
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.947T>C (p.Leu316Pro) rs796052063
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) rs200317876
NM_000030.3(AGXT):c.956C>T (p.Pro319Leu) rs180177299
NM_000030.3(AGXT):c.959_960del (p.Thr320fs) rs796052074
NM_000030.3(AGXT):c.971_972del (p.Val324fs) rs180177300
NM_000030.3(AGXT):c.973del (p.Ala325fs) rs2059037657
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) rs180177302
NM_000030.3(AGXT):c.994_995del (p.Trp332fs)
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) rs180177303
NM_000030.3(AGXT):c.[32C>T;836T>C]
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]
NM_012203.2(GRHPR):c.*132T>C rs1823695311
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.100del (p.Trp34fs)
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.109_118delinsCAC (p.Asp37fs)
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) rs202022170
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.156C>G (p.Ala52=) rs754532633
NM_012203.2(GRHPR):c.160G>A (p.Gly54Ser)
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
NM_012203.2(GRHPR):c.188_189del (p.Val63fs) rs1554746565
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) rs1554746094
NM_012203.2(GRHPR):c.206_214+11del
NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)
NM_012203.2(GRHPR):c.214+1G>A
NM_012203.2(GRHPR):c.214+1G>C rs1244822375
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.215-11C>T rs796052076
NM_012203.2(GRHPR):c.215-2_215-1del rs1554746793
NM_012203.2(GRHPR):c.228dup (p.Val77fs) rs1057517238
NM_012203.2(GRHPR):c.248_249del (p.Val83fs) rs672601351
NM_012203.2(GRHPR):c.251del (p.Gly84fs)
NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
NM_012203.2(GRHPR):c.259del (p.His87fs)
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro) rs1588751701
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_012203.2(GRHPR):c.287+2T>C rs1564297234
NM_012203.2(GRHPR):c.287G>A (p.Arg96His)
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) rs796052078
NM_012203.2(GRHPR):c.287_287+4delinsCCC
NM_012203.2(GRHPR):c.288-1G>C
NM_012203.2(GRHPR):c.288-2_288del rs796052081
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) rs1554746097
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter) rs1823086297
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile) rs761490627
NM_012203.2(GRHPR):c.319dup (p.Leu107fs)
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
NM_012203.2(GRHPR):c.348del (p.Ser117fs)
NM_012203.2(GRHPR):c.349T>C (p.Ser117Pro)
NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)
NM_012203.2(GRHPR):c.359T>C (p.Leu120Pro)
NM_012203.2(GRHPR):c.370C>T (p.Arg124Cys)
NM_012203.2(GRHPR):c.375del (p.Leu126fs) rs180177308
NM_012203.2(GRHPR):c.390C>T (p.Ile130=) rs752869610
NM_012203.2(GRHPR):c.403_404+1del rs1554747007
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.404del (p.Asn135fs) rs1057516299
NM_012203.2(GRHPR):c.405-1G>A rs779208888
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
NM_012203.2(GRHPR):c.419C>T (p.Ser140Leu)
NM_012203.2(GRHPR):c.422G>A (p.Trp141Ter)
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs) rs1057517333
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs) rs1057517026
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del) rs1243273371
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter) rs1341484544
NM_012203.2(GRHPR):c.45del (p.Ala17fs) rs180177311
NM_012203.2(GRHPR):c.493+1G>A
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.494-2A>G
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)
NM_012203.2(GRHPR):c.496del (p.Gln166fs) rs1554747871
NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)
NM_012203.2(GRHPR):c.501del (p.Ile168fs)
NM_012203.2(GRHPR):c.515del (p.Leu172fs) rs1057516990
NM_012203.2(GRHPR):c.532del (p.Gln178fs)
NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.586del (p.Gln196fs)
NM_012203.2(GRHPR):c.589del (p.Ala197fs) rs1564300408
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) rs1588757756
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012203.2(GRHPR):c.598+1G>T rs111256477
NM_012203.2(GRHPR):c.598+1del rs1554747933
NM_012203.2(GRHPR):c.599-1G>A
NM_012203.2(GRHPR):c.599-1G>C rs1422977131
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro) rs886063930
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)
NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)
NM_012203.2(GRHPR):c.656C>T (p.Thr219Ile)
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
NM_012203.2(GRHPR):c.694del (p.Gln232fs) rs796052082
NM_012203.2(GRHPR):c.737dup
NM_012203.2(GRHPR):c.755dup (p.Asp252fs) rs1057516823
NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro)
NM_012203.2(GRHPR):c.769dup (p.Ala257fs)
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
NM_012203.2(GRHPR):c.780dup (p.Gly261fs)
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) rs1554748528
NM_012203.2(GRHPR):c.783del (p.Lys262fs)
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) rs1554748534
NM_012203.2(GRHPR):c.805G>C (p.Asp269His)
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
NM_012203.2(GRHPR):c.83+1G>A
NM_012203.2(GRHPR):c.83+1G>C rs1822898131
NM_012203.2(GRHPR):c.83+51G>A rs1554746162
NM_012203.2(GRHPR):c.83+51_83+52delinsA rs35891798
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012203.2(GRHPR):c.84-12_84-5delinsTTT
NM_012203.2(GRHPR):c.84-2A>G rs180177319
NM_012203.2(GRHPR):c.84-8_84-5del rs180177320
NM_012203.2(GRHPR):c.847del (p.Leu282_Leu283insTer)
NM_012203.2(GRHPR):c.849dup (p.Thr284fs) rs1554748574
NM_012203.2(GRHPR):c.863del (p.Cys288fs) rs1554748598
NM_012203.2(GRHPR):c.865+1del
NM_012203.2(GRHPR):c.865+2T>C
NM_012203.2(GRHPR):c.865+2dup rs1218448371
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.866_867delTG
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) rs1135283
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro) rs1588768370
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser) rs1823674233
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_012203.2(GRHPR):c.890_891dup (p.Thr298fs)
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
NM_012203.2(GRHPR):c.930_931dup (p.Asn311fs)
NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.935dup (p.Asn312fs) rs1554749668
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) rs1554749672
NM_012203.2(GRHPR):c.954del (p.Glu320fs) rs1057516831
NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)
NM_012203.2(GRHPR):c.964_965del (p.Met322fs) rs1554749707
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) rs180177325
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) rs180177325
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp) rs1554749727
NM_012203.2:c.215_493del
NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter) rs2091405838
NM_138413.4(HOGA1):c.*1059A>C rs886047524
NM_138413.4(HOGA1):c.*186C>A rs576078709
NM_138413.4(HOGA1):c.*204T>A rs886047519
NM_138413.4(HOGA1):c.*288A>C rs886047520
NM_138413.4(HOGA1):c.*291C>T rs1451536369
NM_138413.4(HOGA1):c.*350dup rs1554875325
NM_138413.4(HOGA1):c.*353_*354dup rs5787248
NM_138413.4(HOGA1):c.*354dup rs5787248
NM_138413.4(HOGA1):c.*359dup rs561998392
NM_138413.4(HOGA1):c.*381AG[1] rs886047523
NM_138413.4(HOGA1):c.*391T>C rs2041201199
NM_138413.4(HOGA1):c.*415T>A rs148648470
NM_138413.4(HOGA1):c.*427G>A rs181759217
NM_138413.4(HOGA1):c.*485C>T rs553100036
NM_138413.4(HOGA1):c.*560T>C rs1977641
NM_138413.4(HOGA1):c.*592C>G rs573565860
NM_138413.4(HOGA1):c.*592C>T rs573565860
NM_138413.4(HOGA1):c.*637G>A rs1977640
NM_138413.4(HOGA1):c.*665C>T rs2041204731
NM_138413.4(HOGA1):c.*733C>T rs764120248
NM_138413.4(HOGA1):c.*803A>G rs542605022
NM_138413.4(HOGA1):c.*887C>G rs2041206041
NM_138413.4(HOGA1):c.*937C>T rs532737566
NM_138413.4(HOGA1):c.103A>G (p.Ile35Val)
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.110G>A (p.Gly37Asp)
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.122_123del (p.Pro41fs) rs1564753668
NM_138413.4(HOGA1):c.122del (p.Pro41fs)
NM_138413.4(HOGA1):c.122dup (p.Val42fs) rs1425736036
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro) rs1221444661
NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp) rs1347221993
NM_138413.4(HOGA1):c.158del (p.Asp53fs) rs796052091
NM_138413.4(HOGA1):c.186_187del (p.His62fs)
NM_138413.4(HOGA1):c.189del (p.Lys63fs) rs1247079002
NM_138413.4(HOGA1):c.18C>T (p.Val6=) rs1589899135
NM_138413.4(HOGA1):c.200T>G (p.Phe67Cys)
NM_138413.4(HOGA1):c.204dup (p.Phe69fs)
NM_138413.4(HOGA1):c.206T>G (p.Phe69Cys)
NM_138413.4(HOGA1):c.20G>C (p.Trp7Ser)
NM_138413.4(HOGA1):c.212-1G>A
NM_138413.4(HOGA1):c.212G>T (p.Gly71Val)
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) rs796052088
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del) rs1554872338
NM_138413.4(HOGA1):c.234T>A (p.Asn78Lys)
NM_138413.4(HOGA1):c.238G>T (p.Glu80Ter)
NM_138413.4(HOGA1):c.250del (p.Phe83_Leu84insTer)
NM_138413.4(HOGA1):c.251T>C (p.Leu84Pro)
NM_138413.4(HOGA1):c.266G>A (p.Arg89His)
NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile) rs796052089
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.340+1G>A
NM_138413.4(HOGA1):c.341-82del rs796052083
NM_138413.4(HOGA1):c.341-8T>C rs2041094866
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser) rs2041094955
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) rs767405535
NM_138413.4(HOGA1):c.356T>A (p.Val119Glu)
NM_138413.4(HOGA1):c.356T>G (p.Val119Gly)
NM_138413.4(HOGA1):c.365C>T (p.Thr122Ile)
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr)
NM_138413.4(HOGA1):c.3G>A (p.Met1Ile)
NM_138413.4(HOGA1):c.404del (p.Val135fs) rs1554874148
NM_138413.4(HOGA1):c.413del (p.Pro138fs) rs777683624
NM_138413.4(HOGA1):c.415T>G (p.Cys139Gly)
NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln)
NM_138413.4(HOGA1):c.425G>A (p.Arg142His)
NM_138413.4(HOGA1):c.448del (p.Leu150fs) rs746776892
NM_138413.4(HOGA1):c.469-13C>T rs750664684
NM_138413.4(HOGA1):c.469-1G>C
NM_138413.4(HOGA1):c.477T>C (p.Asp159=) rs2041100859
NM_138413.4(HOGA1):c.485C>T (p.Pro162Leu)
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro) rs796052090
NM_138413.4(HOGA1):c.533_535delinsCGA (p.Leu178_Pro179delinsProThr)
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.535C>T (p.Pro179Ser)
NM_138413.4(HOGA1):c.541G>C (p.Asp181His)
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
NM_138413.4(HOGA1):c.584T>C (p.Met195Thr)
NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp)
NM_138413.4(HOGA1):c.603+1G>A rs2135722313
NM_138413.4(HOGA1):c.604-4G>T rs2041104477
NM_138413.4(HOGA1):c.634A>C (p.Thr212Pro)
NM_138413.4(HOGA1):c.64G>A (p.Val22Met) rs1425518232
NM_138413.4(HOGA1):c.651dup (p.Gln218fs)
NM_138413.4(HOGA1):c.661G>A (p.Ala221Thr) rs2041104991
NM_138413.4(HOGA1):c.661G>C (p.Ala221Pro)
NM_138413.4(HOGA1):c.700+2T>A
NM_138413.4(HOGA1):c.700+4G>T rs2041105506
NM_138413.4(HOGA1):c.700G>C (p.Gly234Arg)
NM_138413.4(HOGA1):c.701-11_701-8dup rs143018385
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.70del (p.Val24fs) rs2135711274
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
NM_138413.4(HOGA1):c.720C>A (p.Cys240Ter)
NM_138413.4(HOGA1):c.728C>A (p.Ala243Asp) rs796052085
NM_138413.4(HOGA1):c.733G>A (p.Val245Ile) rs755562733
NM_138413.4(HOGA1):c.733G>T (p.Val245Phe) rs755562733
NM_138413.4(HOGA1):c.743del (p.Ala248fs)
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser) rs886047518
NM_138413.4(HOGA1):c.754C>T (p.Gln252Ter)
NM_138413.4(HOGA1):c.769_770del (p.Cys257fs)
NM_138413.4(HOGA1):c.776C>T (p.Thr259Met) rs144103035
NM_138413.4(HOGA1):c.784T>G (p.Trp262Gly)
NM_138413.4(HOGA1):c.785G>A (p.Trp262Ter)
NM_138413.4(HOGA1):c.787G>T (p.Glu263Ter)
NM_138413.4(HOGA1):c.793G>A (p.Ala265Thr)
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) rs752277936
NM_138413.4(HOGA1):c.803_805del (p.Leu268del) rs796052092
NM_138413.4(HOGA1):c.811del (p.Arg271fs)
NM_138413.4(HOGA1):c.814C>G (p.Leu272Val)
NM_138413.4(HOGA1):c.833C>A (p.Ala278Glu)
NM_138413.4(HOGA1):c.834+1G>A rs749315029
NM_138413.4(HOGA1):c.834+2T>C rs947352856
NM_138413.4(HOGA1):c.834G>T (p.Ala278=) rs770050262
NM_138413.4(HOGA1):c.834_834+1delinsTT rs1564760008
NM_138413.4(HOGA1):c.835-7T>A rs768061627
NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys)
NM_138413.4(HOGA1):c.845G>A (p.Arg282His)
NM_138413.4(HOGA1):c.85G>T (p.Glu29Ter)
NM_138413.4(HOGA1):c.860G>A (p.Gly287Glu)
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr) rs1554875257
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr) rs796052087
NM_138413.4(HOGA1):c.881G>A (p.Trp294Ter)
NM_138413.4(HOGA1):c.895G>C (p.Gly299Arg)
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_138413.4(HOGA1):c.926T>C (p.Leu309Pro)
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138413.4(HOGA1):c.940G>T (p.Glu314Ter)
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys)

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