ClinVar Miner

List of variants studied for 2-aminoadipic 2-oxoadipic aciduria by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 731
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=) rs1615510 0.99092
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu) rs1279138 0.96677
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=) rs1701472 0.95314
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=) rs1722462 0.87799
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp) rs3740015 0.47407
NM_018706.7(DHTKD1):c.2320-4G>A rs12416681 0.07832
NM_018706.7(DHTKD1):c.951C>T (p.Asn317=) rs3740016 0.07832
NM_018706.7(DHTKD1):c.2048-12G>T rs76263909 0.02794
NM_018706.7(DHTKD1):c.1560C>T (p.Thr520=) rs35537424 0.02598
NM_018706.7(DHTKD1):c.2523C>T (p.Phe841=) rs12769375 0.01095
NM_018706.7(DHTKD1):c.987+10G>C rs142511121 0.00643
NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp) rs34716552 0.00493
NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu) rs35046964 0.00470
NM_018706.7(DHTKD1):c.2402+10G>C rs139573946 0.00469
NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala) rs147571909 0.00424
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_018706.7(DHTKD1):c.1756+16T>C rs202188722 0.00284
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser) rs146741810 0.00249
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg) rs147938299 0.00240
NM_018706.7(DHTKD1):c.1284G>A (p.Leu428=) rs148613315 0.00235
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_018706.7(DHTKD1):c.443A>C (p.Lys148Thr) rs141676270 0.00156
NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=) rs142017323 0.00142
NM_018706.7(DHTKD1):c.234C>T (p.Thr78=) rs138526346 0.00138
NM_018706.7(DHTKD1):c.609C>T (p.His203=) rs12265659 0.00090
NM_018706.7(DHTKD1):c.2722C>A (p.His908Asn) rs140386798 0.00089
NM_018706.7(DHTKD1):c.2340A>G (p.Gln780=) rs149564288 0.00086
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu) rs149066296 0.00086
NM_018706.7(DHTKD1):c.1262A>G (p.Lys421Arg) rs34033944 0.00084
NM_018706.7(DHTKD1):c.369T>C (p.Asn123=) rs35638771 0.00084
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val) rs142006153 0.00076
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00074
NM_018706.7(DHTKD1):c.1041G>A (p.Thr347=) rs181104203 0.00057
NM_018706.7(DHTKD1):c.1300G>A (p.Gly434Ser) rs145036232 0.00056
NM_018706.7(DHTKD1):c.2742C>T (p.Leu914=) rs201680688 0.00041
NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=) rs145738102 0.00036
NM_018706.7(DHTKD1):c.1407C>A (p.Gly469=) rs80324702 0.00025
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=) rs199768968 0.00025
NM_018706.7(DHTKD1):c.1220G>A (p.Arg407His) rs201455968 0.00023
NM_018706.7(DHTKD1):c.2048-4C>T rs375385370 0.00022
NM_018706.7(DHTKD1):c.2427C>T (p.Ser809=) rs144376657 0.00022
NM_018706.7(DHTKD1):c.847A>G (p.Met283Val) rs145337285 0.00021
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_018706.7(DHTKD1):c.2169G>A (p.Ala723=) rs770278866 0.00016
NM_018706.7(DHTKD1):c.2320-5C>T rs369534362 0.00016
NM_018706.7(DHTKD1):c.945A>G (p.Pro315=) rs144254844 0.00016
NM_018706.7(DHTKD1):c.1185C>T (p.Ile395=) rs140878433 0.00015
NM_018706.7(DHTKD1):c.1956T>C (p.Ile652=) rs375353018 0.00014
NM_018706.7(DHTKD1):c.2047+12C>T rs368839395 0.00011
NM_018706.7(DHTKD1):c.2154+19G>A rs375269543 0.00011
NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr) rs199643928 0.00011
NM_018706.7(DHTKD1):c.2520C>T (p.Pro840=) rs540552818 0.00011
NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser) rs35442324 0.00011
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_018706.7(DHTKD1):c.2525C>T (p.Pro842Leu) rs374419452 0.00010
NM_018706.7(DHTKD1):c.294A>C (p.Gly98=) rs199959700 0.00010
NM_018706.7(DHTKD1):c.744A>G (p.Leu248=) rs370385309 0.00010
NM_018706.7(DHTKD1):c.1695C>T (p.Asp565=) rs141111299 0.00009
NM_018706.7(DHTKD1):c.1998C>T (p.Gly666=) rs144891795 0.00009
NM_018706.7(DHTKD1):c.2526G>A (p.Pro842=) rs143353830 0.00009
NM_018706.7(DHTKD1):c.2613G>A (p.Pro871=) rs139445220 0.00009
NM_018706.7(DHTKD1):c.922C>T (p.Arg308Cys) rs377213027 0.00009
NM_018706.7(DHTKD1):c.930C>T (p.Asp310=) rs149203530 0.00009
NM_018706.7(DHTKD1):c.1326C>G (p.Phe442Leu) rs781444343 0.00008
NM_018706.7(DHTKD1):c.1419G>A (p.Thr473=) rs370218003 0.00007
NM_018706.7(DHTKD1):c.1671+3G>A rs369606311 0.00007
NM_018706.7(DHTKD1):c.718-5A>G rs374421488 0.00007
NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu) rs753355529 0.00006
NM_018706.7(DHTKD1):c.1078G>A (p.Val360Met) rs755976465 0.00006
NM_018706.7(DHTKD1):c.1246C>T (p.Gln416Ter) rs200722918 0.00006
NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp) rs781243504 0.00006
NM_018706.7(DHTKD1):c.1720G>A (p.Ala574Thr) rs200095700 0.00006
NM_018706.7(DHTKD1):c.2454A>G (p.Lys818=) rs544154603 0.00006
NM_018706.7(DHTKD1):c.2659-3T>C rs367606155 0.00006
NM_018706.7(DHTKD1):c.717+12C>T rs548903016 0.00006
NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys) rs895237537 0.00006
NM_018706.7(DHTKD1):c.863C>T (p.Ser288Leu) rs201310721 0.00006
NM_018706.7(DHTKD1):c.923G>A (p.Arg308His) rs17849603 0.00006
NM_018706.7(DHTKD1):c.987+20T>C rs774186618 0.00006
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg) rs35898320 0.00005
NM_018706.7(DHTKD1):c.1897-15C>T rs767082732 0.00005
NM_018706.7(DHTKD1):c.2048-18C>A rs532827857 0.00005
NM_018706.7(DHTKD1):c.2134C>T (p.Arg712Ter) rs745432268 0.00005
NM_018706.7(DHTKD1):c.1551G>A (p.Ala517=) rs112910106 0.00004
NM_018706.7(DHTKD1):c.1650C>T (p.His550=) rs375209596 0.00004
NM_018706.7(DHTKD1):c.1721C>T (p.Ala574Val) rs757993723 0.00004
NM_018706.7(DHTKD1):c.2154+11C>T rs771483975 0.00004
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr) rs539692445 0.00004
NM_018706.7(DHTKD1):c.2251A>C (p.Arg751=) rs781551352 0.00004
NM_018706.7(DHTKD1):c.2332A>G (p.Thr778Ala) rs138115346 0.00004
NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala) rs762777348 0.00004
NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln) rs773052090 0.00004
NM_018706.7(DHTKD1):c.576C>T (p.Gly192=) rs543081107 0.00004
NM_018706.7(DHTKD1):c.627G>A (p.Ser209=) rs745332525 0.00004
NM_018706.7(DHTKD1):c.636C>T (p.Ser212=) rs772308172 0.00004
NM_018706.7(DHTKD1):c.876C>T (p.Ala292=) rs556079764 0.00004
NM_018706.7(DHTKD1):c.962C>T (p.Pro321Leu) rs755528865 0.00004
NM_018706.7(DHTKD1):c.1093A>T (p.Asn365Tyr) rs747758630 0.00003
NM_018706.7(DHTKD1):c.155-20T>A rs777435388 0.00003
NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp) rs149034097 0.00003
NM_018706.7(DHTKD1):c.2016C>T (p.Ala672=) rs750587155 0.00003
NM_018706.7(DHTKD1):c.2048-16C>T rs752596009 0.00003
NM_018706.7(DHTKD1):c.2250G>A (p.Arg750=) rs371391583 0.00003
NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu) rs200355418 0.00003
NM_018706.7(DHTKD1):c.2325C>T (p.Ala775=) rs755569908 0.00003
NM_018706.7(DHTKD1):c.2403-7C>G rs552132988 0.00003
NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile) rs145082960 0.00003
NM_018706.7(DHTKD1):c.2652C>T (p.Ala884=) rs755776129 0.00003
NM_018706.7(DHTKD1):c.305C>T (p.Thr102Met) rs769632958 0.00003
NM_018706.7(DHTKD1):c.311-20C>G rs368615319 0.00003
NM_018706.7(DHTKD1):c.420G>C (p.Gln140His) rs953186201 0.00003
NM_018706.7(DHTKD1):c.508A>C (p.Met170Leu) rs369465951 0.00003
NM_018706.7(DHTKD1):c.555G>A (p.Ser185=) rs1157871671 0.00003
NM_018706.7(DHTKD1):c.610G>A (p.Glu204Lys) rs751438050 0.00003
NM_018706.7(DHTKD1):c.626C>T (p.Ser209Leu) rs780598300 0.00003
NM_018706.7(DHTKD1):c.988-18C>T rs371869013 0.00003
NM_018706.7(DHTKD1):c.1040C>T (p.Thr347Met) rs760006425 0.00002
NM_018706.7(DHTKD1):c.1113C>A (p.Thr371=) rs191543372 0.00002
NM_018706.7(DHTKD1):c.115G>A (p.Glu39Lys) rs757691933 0.00002
NM_018706.7(DHTKD1):c.1258C>T (p.Arg420Cys) rs762746645 0.00002
NM_018706.7(DHTKD1):c.154+19G>A rs767736649 0.00002
NM_018706.7(DHTKD1):c.1742C>G (p.Ser581Cys) rs1348311643 0.00002
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909 0.00002
NM_018706.7(DHTKD1):c.1853T>A (p.Ile618Asn) rs761295635 0.00002
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662 0.00002
NM_018706.7(DHTKD1):c.2031C>T (p.Asp677=) rs779425467 0.00002
NM_018706.7(DHTKD1):c.2103C>T (p.Tyr701=) rs766801757 0.00002
NM_018706.7(DHTKD1):c.22G>A (p.Ala8Thr) rs371803487 0.00002
NM_018706.7(DHTKD1):c.2319+12G>A rs750847492 0.00002
NM_018706.7(DHTKD1):c.2370G>A (p.Pro790=) rs745636733 0.00002
NM_018706.7(DHTKD1):c.2377G>A (p.Gly793Ser) rs376837792 0.00002
NM_018706.7(DHTKD1):c.2390T>C (p.Val797Ala) rs545835536 0.00002
NM_018706.7(DHTKD1):c.2429G>A (p.Gly810Asp) rs781524340 0.00002
NM_018706.7(DHTKD1):c.2456A>G (p.Gln819Arg) rs749073861 0.00002
NM_018706.7(DHTKD1):c.2559C>G (p.Tyr853Ter) rs758290860 0.00002
NM_018706.7(DHTKD1):c.2658+2del rs1453191182 0.00002
NM_018706.7(DHTKD1):c.2695G>A (p.Ala899Thr) rs767599280 0.00002
NM_018706.7(DHTKD1):c.306G>A (p.Thr102=) rs775431352 0.00002
NM_018706.7(DHTKD1):c.432C>A (p.Asp144Glu) rs555471579 0.00002
NM_018706.7(DHTKD1):c.614T>G (p.Leu205Arg) rs996258907 0.00002
NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser) rs764415717 0.00002
NM_018706.7(DHTKD1):c.717+13G>A rs778027470 0.00002
NM_018706.7(DHTKD1):c.780C>T (p.Asp260=) rs143069945 0.00002
NM_018706.7(DHTKD1):c.8C>G (p.Ser3Cys) rs765392621 0.00002
NM_018706.7(DHTKD1):c.976A>G (p.Ile326Val) rs745602291 0.00002
NM_018706.7(DHTKD1):c.9T>A (p.Ser3=) rs367959044 0.00002
NM_018706.7(DHTKD1):c.102G>A (p.Arg34=) rs766251442 0.00001
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_018706.7(DHTKD1):c.1159+4C>T rs376431681 0.00001
NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter) rs397514534 0.00001
NM_018706.7(DHTKD1):c.1229G>A (p.Arg410Gln) rs748482829 0.00001
NM_018706.7(DHTKD1):c.1257C>T (p.Phe419=) rs775165668 0.00001
NM_018706.7(DHTKD1):c.128C>G (p.Pro43Arg) rs1277649888 0.00001
NM_018706.7(DHTKD1):c.1307A>G (p.Asn436Ser) rs368119003 0.00001
NM_018706.7(DHTKD1):c.1315G>C (p.Asp439His) rs995123652 0.00001
NM_018706.7(DHTKD1):c.1358+19G>A rs760227108 0.00001
NM_018706.7(DHTKD1):c.1358+20T>C rs766003951 0.00001
NM_018706.7(DHTKD1):c.1358+9A>G rs1270166462 0.00001
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter) rs201369986 0.00001
NM_018706.7(DHTKD1):c.1371C>T (p.Ser457=) rs760150534 0.00001
NM_018706.7(DHTKD1):c.1477A>G (p.Asn493Asp) rs761255122 0.00001
NM_018706.7(DHTKD1):c.1533C>T (p.Gly511=) rs372588654 0.00001
NM_018706.7(DHTKD1):c.154+20C>A rs1183216028 0.00001
NM_018706.7(DHTKD1):c.155-17A>G rs746248223 0.00001
NM_018706.7(DHTKD1):c.1557C>T (p.Ile519=) rs759650263 0.00001
NM_018706.7(DHTKD1):c.1581C>T (p.Pro527=) rs1588612349 0.00001
NM_018706.7(DHTKD1):c.1641G>A (p.Met547Ile) rs561793789 0.00001
NM_018706.7(DHTKD1):c.1839G>A (p.Thr613=) rs202019251 0.00001
NM_018706.7(DHTKD1):c.1850A>C (p.Tyr617Ser) rs773859468 0.00001
NM_018706.7(DHTKD1):c.186dup (p.Tyr63fs) rs1383399355 0.00001
NM_018706.7(DHTKD1):c.1980G>T (p.Leu660=) rs1050041160 0.00001
NM_018706.7(DHTKD1):c.1981T>G (p.Trp661Gly) rs755428426 0.00001
NM_018706.7(DHTKD1):c.2135G>A (p.Arg712Gln) rs755668251 0.00001
NM_018706.7(DHTKD1):c.2176G>C (p.Gly726Arg) rs763086542 0.00001
NM_018706.7(DHTKD1):c.2206G>A (p.Val736Met) rs761744657 0.00001
NM_018706.7(DHTKD1):c.2284_2286del (p.Ile762del) rs765370424 0.00001
NM_018706.7(DHTKD1):c.2285T>C (p.Ile762Thr) rs773205356 0.00001
NM_018706.7(DHTKD1):c.229T>G (p.Phe77Val) rs371209000 0.00001
NM_018706.7(DHTKD1):c.2326G>T (p.Val776Leu) rs200042516 0.00001
NM_018706.7(DHTKD1):c.2402+3A>G rs754298961 0.00001
NM_018706.7(DHTKD1):c.240A>C (p.Gln80His) rs1407480386 0.00001
NM_018706.7(DHTKD1):c.2412C>A (p.Thr804=) rs765729432 0.00001
NM_018706.7(DHTKD1):c.243C>T (p.Ala81=) rs375541349 0.00001
NM_018706.7(DHTKD1):c.2465C>T (p.Ser822Phe) rs768650459 0.00001
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540 0.00001
NM_018706.7(DHTKD1):c.255T>C (p.Asn85=) rs755459607 0.00001
NM_018706.7(DHTKD1):c.2611C>T (p.Pro871Ser) rs150960212 0.00001
NM_018706.7(DHTKD1):c.2627C>T (p.Ser876Phe) rs569696877 0.00001
NM_018706.7(DHTKD1):c.2667G>A (p.Leu889=) rs781702712 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_018706.7(DHTKD1):c.311-3C>G rs761346066 0.00001
NM_018706.7(DHTKD1):c.403T>G (p.Ser135Ala) rs755902715 0.00001
NM_018706.7(DHTKD1):c.408A>G (p.Gln136=) rs1161663539 0.00001
NM_018706.7(DHTKD1):c.495T>C (p.His165=) rs1298715789 0.00001
NM_018706.7(DHTKD1):c.522+11G>T rs771751313 0.00001
NM_018706.7(DHTKD1):c.522+3A>G rs1204654576 0.00001
NM_018706.7(DHTKD1):c.577G>A (p.Glu193Lys) rs1052367278 0.00001
NM_018706.7(DHTKD1):c.600C>T (p.Gly200=) rs752556444 0.00001
NM_018706.7(DHTKD1):c.824C>T (p.Ala275Val) rs374760148 0.00001
NM_018706.7(DHTKD1):c.886G>A (p.Val296Met) rs763791918 0.00001
NM_018706.7(DHTKD1):c.906C>T (p.Arg302=) rs779076881 0.00001
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe) rs777908204 0.00001
NM_018706.7(DHTKD1):c.931G>A (p.Gly311Ser) rs372367790 0.00001
NM_018706.7(DHTKD1):c.965G>C (p.Gly322Ala) rs200814440 0.00001
NC_000010.10:g.(?_12111013)_(12162907_?)dup
NC_000010.10:g.(?_12111033)_(12111206_?)dup
NC_000010.10:g.(?_12111033)_(12140015_?)dup
NC_000010.10:g.(?_12111033)_(12148415_?)del
NC_000010.10:g.(?_12111033)_(12155083_?)dup
NC_000010.10:g.(?_12111033)_(12159774_?)dup
NC_000010.10:g.(?_12111033)_(12162887_?)del
NC_000010.10:g.(?_12111033)_(12162887_?)dup
NC_000010.10:g.(?_12123451)_(12123646_?)del
NC_000010.10:g.(?_12123451)_(12133703_?)del
NC_000010.10:g.(?_12123451)_(12133703_?)dup
NC_000010.10:g.(?_12123451)_(12162887_?)dup
NC_000010.10:g.(?_12126519)_(12131274_?)dup
NC_000010.10:g.(?_12129514)_(12162887_?)dup
NC_000010.10:g.(?_12130965)_(12133703_?)del
NC_000010.10:g.(?_12139663)_(12162887_?)del
NC_000010.10:g.(?_12142225)_(12144857_?)del
NC_000010.10:g.(?_12143021)_(12143200_?)del
NC_000010.10:g.(?_12143021)_(12162887_?)dup
NC_000010.10:g.(?_12148225)_(12150034_?)del
NC_000010.10:g.(?_12148225)_(12155083_?)dup
NC_000010.10:g.(?_12148225)_(12162887_?)del
NC_000010.10:g.(?_12149888)_(12150034_?)del
NC_000010.10:g.(?_12154879)_(12155083_?)del
NC_000010.10:g.(?_12158694)_(12162192_?)del
NC_000010.10:g.(?_12159652)_(12159774_?)del
NC_000010.10:g.(?_12159652)_(12162286_?)del
NC_000010.10:g.(?_12159652)_(12162887_?)del
NC_000010.10:g.(?_12159652)_(12162887_?)dup
NC_000010.10:g.(?_12160728)_(12162887_?)dup
NC_000010.10:g.(?_12162161)_(12162887_?)del
NC_000010.11:g.(?_12118729)_(12120287_?)del
NM_018706.7(DHTKD1):c.100C>A (p.Arg34=) rs1195184698
NM_018706.7(DHTKD1):c.1019G>T (p.Gly340Val)
NM_018706.7(DHTKD1):c.1037T>C (p.Phe346Ser) rs2131360674
NM_018706.7(DHTKD1):c.1055C>G (p.Pro352Arg)
NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr) rs1250819676
NM_018706.7(DHTKD1):c.1081C>T (p.His361Tyr)
NM_018706.7(DHTKD1):c.1084T>C (p.Leu362=)
NM_018706.7(DHTKD1):c.1097A>G (p.Asn366Ser)
NM_018706.7(DHTKD1):c.1099C>G (p.Gln367Glu)
NM_018706.7(DHTKD1):c.1110C>T (p.Tyr370=)
NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg)
NM_018706.7(DHTKD1):c.1141T>C (p.Leu381=)
NM_018706.7(DHTKD1):c.114C>T (p.Pro38=)
NM_018706.7(DHTKD1):c.1150A>G (p.Ser384Gly)
NM_018706.7(DHTKD1):c.1150A>T (p.Ser384Cys)
NM_018706.7(DHTKD1):c.1159+19A>G
NM_018706.7(DHTKD1):c.1159+1G>A
NM_018706.7(DHTKD1):c.1159+5G>A
NM_018706.7(DHTKD1):c.1160-13T>G rs2131362514
NM_018706.7(DHTKD1):c.1160-17G>A
NM_018706.7(DHTKD1):c.1160-18T>C
NM_018706.7(DHTKD1):c.1160-1G>C
NM_018706.7(DHTKD1):c.1161G>A (p.Gly387=)
NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly)
NM_018706.7(DHTKD1):c.1180A>G (p.Ile394Val) rs776977187
NM_018706.7(DHTKD1):c.1186C>T (p.His396Tyr)
NM_018706.7(DHTKD1):c.1191C>G (p.Val397=) rs758294466
NM_018706.7(DHTKD1):c.1193A>G (p.Asn398Ser)
NM_018706.7(DHTKD1):c.1219C>T (p.Arg407Cys)
NM_018706.7(DHTKD1):c.1223C>T (p.Ala408Val) rs1564392988
NM_018706.7(DHTKD1):c.1225A>T (p.Thr409Ser)
NM_018706.7(DHTKD1):c.1233G>A (p.Leu411=)
NM_018706.7(DHTKD1):c.1245C>T (p.Tyr415=)
NM_018706.7(DHTKD1):c.1249C>T (p.Arg417Cys)
NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys)
NM_018706.7(DHTKD1):c.1250G>A (p.Arg417His)
NM_018706.7(DHTKD1):c.1259G>A (p.Arg420His) rs200039178
NM_018706.7(DHTKD1):c.1264G>A (p.Asp422Asn)
NM_018706.7(DHTKD1):c.1266T>A (p.Asp422Glu) rs1833034016
NM_018706.7(DHTKD1):c.1267G>A (p.Val423Met) rs761350668
NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr) rs2131342394
NM_018706.7(DHTKD1):c.1305C>T (p.His435=)
NM_018706.7(DHTKD1):c.1339A>G (p.Ile447Val)
NM_018706.7(DHTKD1):c.1358+16C>T
NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys) rs201559023
NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg) rs201559023
NM_018706.7(DHTKD1):c.1384T>C (p.Tyr462His)
NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys)
NM_018706.7(DHTKD1):c.1394A>T (p.His465Leu) rs2131365248
NM_018706.7(DHTKD1):c.1399A>G (p.Ile467Val)
NM_018706.7(DHTKD1):c.1402G>A (p.Ala468Thr) rs756190281
NM_018706.7(DHTKD1):c.1407C>T (p.Gly469=) rs80324702
NM_018706.7(DHTKD1):c.1409del (p.Gly470fs) rs1281526839
NM_018706.7(DHTKD1):c.1418C>T (p.Thr473Met)
NM_018706.7(DHTKD1):c.1428G>A (p.Glu476=)
NM_018706.7(DHTKD1):c.1432T>A (p.Ser478Thr) rs2131365279
NM_018706.7(DHTKD1):c.1450T>C (p.Tyr484His) rs922732733
NM_018706.7(DHTKD1):c.1452C>G (p.Tyr484Ter)
NM_018706.7(DHTKD1):c.1454A>G (p.Tyr485Cys)
NM_018706.7(DHTKD1):c.1458C>T (p.Ala486=)
NM_018706.7(DHTKD1):c.1461G>A (p.Lys487=)
NM_018706.7(DHTKD1):c.1479T>C (p.Asn493=)
NM_018706.7(DHTKD1):c.1496G>A (p.Arg499Lys)
NM_018706.7(DHTKD1):c.1497G>T (p.Arg499Ser)
NM_018706.7(DHTKD1):c.1498C>G (p.Pro500Ala)
NM_018706.7(DHTKD1):c.1505C>T (p.Ala502Val)
NM_018706.7(DHTKD1):c.1508T>C (p.Leu503Pro) rs1833095845
NM_018706.7(DHTKD1):c.1512C>A (p.Asn504Lys)
NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala)
NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln)
NM_018706.7(DHTKD1):c.1531G>C (p.Gly511Arg)
NM_018706.7(DHTKD1):c.1537G>C (p.Ala513Pro)
NM_018706.7(DHTKD1):c.153A>T (p.Pro51=)
NM_018706.7(DHTKD1):c.154+15C>T
NM_018706.7(DHTKD1):c.154+18G>A
NM_018706.7(DHTKD1):c.154+6G>T
NM_018706.7(DHTKD1):c.154+8A>G
NM_018706.7(DHTKD1):c.1542G>T (p.Gln514His)
NM_018706.7(DHTKD1):c.1544del (p.Pro515fs)
NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile)
NM_018706.7(DHTKD1):c.155-11C>T
NM_018706.7(DHTKD1):c.1553A>C (p.Gln518Pro)
NM_018706.7(DHTKD1):c.155T>C (p.Val52Ala)
NM_018706.7(DHTKD1):c.1562C>G (p.Thr521Ser)
NM_018706.7(DHTKD1):c.1565G>A (p.Trp522Ter)
NM_018706.7(DHTKD1):c.156T>C (p.Val52=) rs1160225038
NM_018706.7(DHTKD1):c.1580C>T (p.Pro527Leu)
NM_018706.7(DHTKD1):c.1585G>A (p.Asp529Asn)
NM_018706.7(DHTKD1):c.1587C>T (p.Asp529=)
NM_018706.7(DHTKD1):c.1596G>A (p.Arg532=) rs2131365440
NM_018706.7(DHTKD1):c.1604G>A (p.Gly535Asp)
NM_018706.7(DHTKD1):c.160C>T (p.His54Tyr)
NM_018706.7(DHTKD1):c.1617A>G (p.Val539=)
NM_018706.7(DHTKD1):c.1624C>T (p.Pro542Ser)
NM_018706.7(DHTKD1):c.1630G>C (p.Glu544Gln)
NM_018706.7(DHTKD1):c.1638G>C (p.Gln546His)
NM_018706.7(DHTKD1):c.163G>A (p.Gly55Ser)
NM_018706.7(DHTKD1):c.1645A>G (p.Ser549Gly)
NM_018706.7(DHTKD1):c.1647T>A (p.Ser549Arg)
NM_018706.7(DHTKD1):c.1656G>A (p.Leu552=) rs2131365510
NM_018706.7(DHTKD1):c.1662A>G (p.Thr554=)
NM_018706.7(DHTKD1):c.1664A>C (p.His555Pro)
NM_018706.7(DHTKD1):c.1664A>G (p.His555Arg)
NM_018706.7(DHTKD1):c.1669C>T (p.Gln557Ter)
NM_018706.7(DHTKD1):c.1671+14A>G
NM_018706.7(DHTKD1):c.1671+3G>T
NM_018706.7(DHTKD1):c.1671+9C>G
NM_018706.7(DHTKD1):c.1672-20T>A rs1275272258
NM_018706.7(DHTKD1):c.1672-20T>C
NM_018706.7(DHTKD1):c.1685A>G (p.Lys562Arg) rs2131367049
NM_018706.7(DHTKD1):c.1696G>A (p.Gly566Arg)
NM_018706.7(DHTKD1):c.1705C>G (p.Leu569Val)
NM_018706.7(DHTKD1):c.1705C>T (p.Leu569=)
NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly)
NM_018706.7(DHTKD1):c.1709A>T (p.Asp570Val)
NM_018706.7(DHTKD1):c.1710C>A (p.Asp570Glu)
NM_018706.7(DHTKD1):c.1711T>C (p.Trp571Arg)
NM_018706.7(DHTKD1):c.1719C>T (p.Thr573=) rs376488113
NM_018706.7(DHTKD1):c.1722G>A (p.Ala574=)
NM_018706.7(DHTKD1):c.1722G>C (p.Ala574=)
NM_018706.7(DHTKD1):c.1725A>G (p.Glu575=)
NM_018706.7(DHTKD1):c.1728T>G (p.Ala576=)
NM_018706.7(DHTKD1):c.1744T>G (p.Leu582Val)
NM_018706.7(DHTKD1):c.1753C>G (p.Gln585Glu)
NM_018706.7(DHTKD1):c.1756+10T>G
NM_018706.7(DHTKD1):c.1756+12C>A
NM_018706.7(DHTKD1):c.1756+12C>G
NM_018706.7(DHTKD1):c.1756+12C>T
NM_018706.7(DHTKD1):c.1756+12del rs371403192
NM_018706.7(DHTKD1):c.1756+13T>G
NM_018706.7(DHTKD1):c.1756+13_1756+14insATTTTTTTTCTGT
NM_018706.7(DHTKD1):c.1756+14_1756+15insGTTTTTTTGTGTTTTTTTTTTTTTT
NM_018706.7(DHTKD1):c.1756+18T>A
NM_018706.7(DHTKD1):c.1756+18T>C
NM_018706.7(DHTKD1):c.1756+1G>C
NM_018706.7(DHTKD1):c.1756+20T>A
NM_018706.7(DHTKD1):c.1756+20_1756+21insCTGTTTTTTT
NM_018706.7(DHTKD1):c.1756+21_1756+22insCTGTTTTTTTTT rs1554792993
NM_018706.7(DHTKD1):c.1756+21_1756+22insGGGTTTTTTTTTTTTTTTT
NM_018706.7(DHTKD1):c.1756+21_1756+22insGTGTTTTTT
NM_018706.7(DHTKD1):c.1756+22_1756+23insGGTGTTTTTTTTTTTTTTTTT
NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTT rs375494996
NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTTT
NM_018706.7(DHTKD1):c.1756+22del rs375494996
NM_018706.7(DHTKD1):c.1756+22dup rs375494996
NM_018706.7(DHTKD1):c.1756+23_1756+34del
NM_018706.7(DHTKD1):c.1756+23_1756+39del
NM_018706.7(DHTKD1):c.1756+2T>C
NM_018706.7(DHTKD1):c.1756+7A>T
NM_018706.7(DHTKD1):c.1756+7_1756+8insATTTGTTTTTTTTTTTAGGTTTTTT
NM_018706.7(DHTKD1):c.1757-14dup
NM_018706.7(DHTKD1):c.1757-3A>T
NM_018706.7(DHTKD1):c.1757-7G>A
NM_018706.7(DHTKD1):c.1764T>C (p.Asn588=)
NM_018706.7(DHTKD1):c.1769G>A (p.Arg590His)
NM_018706.7(DHTKD1):c.1769G>T (p.Arg590Leu) rs139836411
NM_018706.7(DHTKD1):c.1790G>A (p.Gly597Asp)
NM_018706.7(DHTKD1):c.1793G>A (p.Arg598His)
NM_018706.7(DHTKD1):c.1806_1809del (p.Ser602fs)
NM_018706.7(DHTKD1):c.1813C>T (p.His605Tyr)
NM_018706.7(DHTKD1):c.1819A>G (p.Ile607Val)
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met) rs2062988
NM_018706.7(DHTKD1):c.1824G>C (p.Val608=) rs2131616416
NM_018706.7(DHTKD1):c.1826T>C (p.Val609Ala)
NM_018706.7(DHTKD1):c.1843G>A (p.Asp615Asn)
NM_018706.7(DHTKD1):c.1845C>T (p.Asp615=)
NM_018706.7(DHTKD1):c.1846A>C (p.Thr616Pro)
NM_018706.7(DHTKD1):c.1846A>G (p.Thr616Ala) rs1186888662
NM_018706.7(DHTKD1):c.1847C>T (p.Thr616Ile)
NM_018706.7(DHTKD1):c.1864C>T (p.His622Tyr) rs1462585733
NM_018706.7(DHTKD1):c.1872C>T (p.Asp624=)
NM_018706.7(DHTKD1):c.1879C>T (p.Gln627Ter)
NM_018706.7(DHTKD1):c.1884G>A (p.Lys628=) rs535103210
NM_018706.7(DHTKD1):c.1886G>A (p.Gly629Glu) rs933926558
NM_018706.7(DHTKD1):c.188A>T (p.Tyr63Phe) rs768895085
NM_018706.7(DHTKD1):c.1893A>G (p.Leu631=)
NM_018706.7(DHTKD1):c.1896+14A>G
NM_018706.7(DHTKD1):c.1896+16A>G
NM_018706.7(DHTKD1):c.1896+19T>G
NM_018706.7(DHTKD1):c.1897-6G>C
NM_018706.7(DHTKD1):c.1899C>T (p.Val633=)
NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly)
NM_018706.7(DHTKD1):c.190T>C (p.Cys64Arg)
NM_018706.7(DHTKD1):c.1910_1911delinsGC (p.Pro637Arg) rs2131619564
NM_018706.7(DHTKD1):c.1911= (p.Pro637=)
NM_018706.7(DHTKD1):c.1911_1912delinsCA (p.Leu638Met)
NM_018706.7(DHTKD1):c.1913T>C (p.Leu638Pro)
NM_018706.7(DHTKD1):c.1926C>G (p.Ala642=)
NM_018706.7(DHTKD1):c.1926C>T (p.Ala642=)
NM_018706.7(DHTKD1):c.1927G>A (p.Val643Ile)
NM_018706.7(DHTKD1):c.1938= (p.Phe646=)
NM_018706.7(DHTKD1):c.1938T>A (p.Phe646Leu)
NM_018706.7(DHTKD1):c.1939G>A (p.Glu647Lys)
NM_018706.7(DHTKD1):c.193G>C (p.Glu65Gln)
NM_018706.7(DHTKD1):c.1950G>A (p.Met650Ile)
NM_018706.7(DHTKD1):c.1952G>A (p.Ser651Asn) rs1833246281
NM_018706.7(DHTKD1):c.1955T>C (p.Ile652Thr)
NM_018706.7(DHTKD1):c.1960A>T (p.Ser654Cys)
NM_018706.7(DHTKD1):c.1961G>A (p.Ser654Asn) rs748103025
NM_018706.7(DHTKD1):c.1967del (p.Lys656fs)
NM_018706.7(DHTKD1):c.1978C>T (p.Leu660=) rs199541122
NM_018706.7(DHTKD1):c.1987_1988delinsAG (p.Ala663Arg)
NM_018706.7(DHTKD1):c.1995T>G (p.Phe665Leu)
NM_018706.7(DHTKD1):c.1997G>A (p.Gly666Asp)
NM_018706.7(DHTKD1):c.1999G>C (p.Asp667His)
NM_018706.7(DHTKD1):c.199_203del (p.His66_Gly67insTer)
NM_018706.7(DHTKD1):c.2009A>G (p.Asn670Ser)
NM_018706.7(DHTKD1):c.2012G>A (p.Gly671Asp)
NM_018706.7(DHTKD1):c.2014G>A (p.Ala672Thr) rs2131619684
NM_018706.7(DHTKD1):c.2018A>G (p.Gln673Arg) rs1833247558
NM_018706.7(DHTKD1):c.2022C>T (p.Ile674=) rs1457060881
NM_018706.7(DHTKD1):c.2023A>G (p.Ile675Val)
NM_018706.7(DHTKD1):c.2032A>G (p.Thr678Ala)
NM_018706.7(DHTKD1):c.2041T>A (p.Ser681Thr)
NM_018706.7(DHTKD1):c.2047+13G>A
NM_018706.7(DHTKD1):c.2047+18G>A
NM_018706.7(DHTKD1):c.2047+9C>T
NM_018706.7(DHTKD1):c.2048-15G>A
NM_018706.7(DHTKD1):c.2048-18C>T
NM_018706.7(DHTKD1):c.2048-32_2048-10del rs1368208385
NM_018706.7(DHTKD1):c.2048G>T (p.Gly683Val)
NM_018706.7(DHTKD1):c.2061G>A (p.Trp687Ter)
NM_018706.7(DHTKD1):c.2062C>T (p.Leu688Phe) rs2131620901
NM_018706.7(DHTKD1):c.2064C>T (p.Leu688=)
NM_018706.7(DHTKD1):c.2079_2080delinsTT (p.Val694Phe)
NM_018706.7(DHTKD1):c.2088C>T (p.Leu696=)
NM_018706.7(DHTKD1):c.2095C>G (p.His699Asp)
NM_018706.7(DHTKD1):c.2096A>G (p.His699Arg)
NM_018706.7(DHTKD1):c.209C>A (p.Ala70Asp)
NM_018706.7(DHTKD1):c.2104G>A (p.Asp702Asn)
NM_018706.7(DHTKD1):c.2106T>G (p.Asp702Glu) rs759597069
NM_018706.7(DHTKD1):c.2110G>T (p.Ala704Ser) rs1354505166
NM_018706.7(DHTKD1):c.2113G>A (p.Gly705Arg)
NM_018706.7(DHTKD1):c.2116C>T (p.Pro706Ser)
NM_018706.7(DHTKD1):c.212C>T (p.Ala71Val)
NM_018706.7(DHTKD1):c.2140G>C (p.Glu714Gln)
NM_018706.7(DHTKD1):c.2154+12G>A
NM_018706.7(DHTKD1):c.2154+18C>T
NM_018706.7(DHTKD1):c.2154G>A (p.Gln718=)
NM_018706.7(DHTKD1):c.2155-14C>T
NM_018706.7(DHTKD1):c.2155-3C>T rs2131624128
NM_018706.7(DHTKD1):c.2156T>G (p.Met719Arg)
NM_018706.7(DHTKD1):c.2166T>G (p.Ser722Arg)
NM_018706.7(DHTKD1):c.2168C>T (p.Ala723Val)
NM_018706.7(DHTKD1):c.2175G>C (p.Glu725Asp)
NM_018706.7(DHTKD1):c.2175G>T (p.Glu725Asp) rs775438065
NM_018706.7(DHTKD1):c.2178G>C (p.Gly726=)
NM_018706.7(DHTKD1):c.2194G>A (p.Val732Met)
NM_018706.7(DHTKD1):c.2229A>G (p.Ala743=)
NM_018706.7(DHTKD1):c.2233T>C (p.Tyr745His)
NM_018706.7(DHTKD1):c.2238C>T (p.Phe746=)
NM_018706.7(DHTKD1):c.2242T>G (p.Leu748Val)
NM_018706.7(DHTKD1):c.2252_2266del (p.Arg751_Arg755del) rs1833358229
NM_018706.7(DHTKD1):c.2261T>A (p.Val754Asp)
NM_018706.7(DHTKD1):c.2263C>T (p.Arg755Trp)
NM_018706.7(DHTKD1):c.2264G>A (p.Arg755Gln)
NM_018706.7(DHTKD1):c.2264G>C (p.Arg755Pro)
NM_018706.7(DHTKD1):c.2279C>G (p.Pro760Arg)
NM_018706.7(DHTKD1):c.227T>C (p.Leu76Pro)
NM_018706.7(DHTKD1):c.2284A>G (p.Ile762Val) rs2131624242
NM_018706.7(DHTKD1):c.2296C>G (p.Pro766Ala)
NM_018706.7(DHTKD1):c.2319+11G>A
NM_018706.7(DHTKD1):c.2320-11C>T
NM_018706.7(DHTKD1):c.2320-12T>G
NM_018706.7(DHTKD1):c.2320-14C>G
NM_018706.7(DHTKD1):c.2320-9C>G
NM_018706.7(DHTKD1):c.232A>G (p.Thr78Ala)
NM_018706.7(DHTKD1):c.2347del (p.Ala783fs)
NM_018706.7(DHTKD1):c.2351C>T (p.Pro784Leu)
NM_018706.7(DHTKD1):c.2356A>G (p.Thr786Ala)
NM_018706.7(DHTKD1):c.2356ACA[1] (p.Thr787del) rs563856629
NM_018706.7(DHTKD1):c.235G>A (p.Gly79Arg)
NM_018706.7(DHTKD1):c.2362T>C (p.Phe788Leu)
NM_018706.7(DHTKD1):c.2369C>T (p.Pro790Leu)
NM_018706.7(DHTKD1):c.2374A>T (p.Ile792Phe)
NM_018706.7(DHTKD1):c.2378G>A (p.Gly793Asp)
NM_018706.7(DHTKD1):c.2382T>C (p.Asp794=)
NM_018706.7(DHTKD1):c.2392G>T (p.Asp798Tyr)
NM_018706.7(DHTKD1):c.239A>C (p.Gln80Pro)
NM_018706.7(DHTKD1):c.2401A>T (p.Lys801Ter)
NM_018706.7(DHTKD1):c.2402+18_2402+19del
NM_018706.7(DHTKD1):c.2402+1G>A
NM_018706.7(DHTKD1):c.2402+9T>C
NM_018706.7(DHTKD1):c.2403-16del
NM_018706.7(DHTKD1):c.2403-18T>C rs2131628932
NM_018706.7(DHTKD1):c.2403-3C>A
NM_018706.7(DHTKD1):c.2403G>A (p.Lys801=)
NM_018706.7(DHTKD1):c.2415C>T (p.Leu805=) rs1460366028
NM_018706.7(DHTKD1):c.2416G>A (p.Val806Met)
NM_018706.7(DHTKD1):c.241G>A (p.Ala81Thr)
NM_018706.7(DHTKD1):c.2425T>C (p.Ser809Pro)
NM_018706.7(DHTKD1):c.2428G>A (p.Gly810Ser)
NM_018706.7(DHTKD1):c.2430C>G (p.Gly810=)
NM_018706.7(DHTKD1):c.2432A>G (p.Lys811Arg)
NM_018706.7(DHTKD1):c.2441A>G (p.Tyr814Cys)
NM_018706.7(DHTKD1):c.2445C>T (p.Ser815=) rs1833467254
NM_018706.7(DHTKD1):c.2447T>C (p.Leu816Pro)
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs) rs1271803838
NM_018706.7(DHTKD1):c.2461_2462del (p.Glu821fs) rs2131629002
NM_018706.7(DHTKD1):c.2469G>A (p.Leu823=)
NM_018706.7(DHTKD1):c.2470G>A (p.Gly824Arg)
NM_018706.7(DHTKD1):c.2482C>T (p.His828Tyr)
NM_018706.7(DHTKD1):c.2494A>G (p.Ile832Val)
NM_018706.7(DHTKD1):c.2497A>G (p.Ile833Val) rs972227565
NM_018706.7(DHTKD1):c.2518C>T (p.Pro840Ser)
NM_018706.7(DHTKD1):c.2523C>A (p.Phe841Leu)
NM_018706.7(DHTKD1):c.2527T>C (p.Leu843=)
NM_018706.7(DHTKD1):c.252G>C (p.Glu84Asp)
NM_018706.7(DHTKD1):c.2549T>C (p.Met850Thr)
NM_018706.7(DHTKD1):c.2566G>C (p.Val856Leu)
NM_018706.7(DHTKD1):c.2571A>G (p.Lys857=)
NM_018706.7(DHTKD1):c.2572+1G>A
NM_018706.7(DHTKD1):c.2572+5G>A rs1833469793
NM_018706.7(DHTKD1):c.2572+9T>C
NM_018706.7(DHTKD1):c.2572G>A (p.Asp858Asn)
NM_018706.7(DHTKD1):c.2573-12C>G rs1399609087
NM_018706.7(DHTKD1):c.2573A>C (p.Asp858Ala)
NM_018706.7(DHTKD1):c.2575C>A (p.His859Asn) rs769419156
NM_018706.7(DHTKD1):c.2575C>T (p.His859Tyr)
NM_018706.7(DHTKD1):c.258G>A (p.Val86=)
NM_018706.7(DHTKD1):c.258G>T (p.Val86=)
NM_018706.7(DHTKD1):c.259C>T (p.Pro87Ser)
NM_018706.7(DHTKD1):c.2604dup (p.Met869fs)
NM_018706.7(DHTKD1):c.2613G>C (p.Pro871=)
NM_018706.7(DHTKD1):c.2614T>C (p.Trp872Arg) rs1021701691
NM_018706.7(DHTKD1):c.2619G>A (p.Ser873=)
NM_018706.7(DHTKD1):c.2623G>A (p.Val875Ile)
NM_018706.7(DHTKD1):c.2632A>G (p.Arg878Gly)
NM_018706.7(DHTKD1):c.2634G>A (p.Arg878=)
NM_018706.7(DHTKD1):c.2649G>A (p.Leu883=)
NM_018706.7(DHTKD1):c.2650G>C (p.Ala884Pro) rs749888809
NM_018706.7(DHTKD1):c.2658+10C>T rs1833504194
NM_018706.7(DHTKD1):c.2658+11G>A
NM_018706.7(DHTKD1):c.2658+1G>T
NM_018706.7(DHTKD1):c.2658+7A>C
NM_018706.7(DHTKD1):c.2659-11T>G
NM_018706.7(DHTKD1):c.2659-18_2659-16del
NM_018706.7(DHTKD1):c.2659-20C>A
NM_018706.7(DHTKD1):c.2659-3_2659-2del rs761529786
NM_018706.7(DHTKD1):c.2662C>A (p.Arg888Ser) rs143212640
NM_018706.7(DHTKD1):c.2662C>T (p.Arg888Cys) rs143212640
NM_018706.7(DHTKD1):c.2663G>A (p.Arg888His) rs757827550
NM_018706.7(DHTKD1):c.2668G>T (p.Val890Leu)
NM_018706.7(DHTKD1):c.2675G>A (p.Arg892Gln) rs574614585
NM_018706.7(DHTKD1):c.2675G>T (p.Arg892Leu) rs574614585
NM_018706.7(DHTKD1):c.2684T>G (p.Leu895Trp) rs2131631166
NM_018706.7(DHTKD1):c.2685G>C (p.Leu895Phe)
NM_018706.7(DHTKD1):c.2686C>T (p.Pro896Ser) rs1833515167
NM_018706.7(DHTKD1):c.2689G>A (p.Val897Ile)
NM_018706.7(DHTKD1):c.2705T>C (p.Ile902Thr)
NM_018706.7(DHTKD1):c.2713G>C (p.Val905Leu)
NM_018706.7(DHTKD1):c.2717A>G (p.His906Arg)
NM_018706.7(DHTKD1):c.2718C>A (p.His906Gln)
NM_018706.7(DHTKD1):c.2727G>A (p.Gln909=)
NM_018706.7(DHTKD1):c.2727G>T (p.Gln909His)
NM_018706.7(DHTKD1):c.272C>T (p.Ala91Val) rs1131691629
NM_018706.7(DHTKD1):c.2743G>A (p.Ala915Thr)
NM_018706.7(DHTKD1):c.2743G>C (p.Ala915Pro)
NM_018706.7(DHTKD1):c.2750C>G (p.Thr917Ser)
NM_018706.7(DHTKD1):c.2751C>G (p.Thr917=)
NM_018706.7(DHTKD1):c.279G>A (p.Val93=)
NM_018706.7(DHTKD1):c.287T>C (p.Leu96Pro)
NM_018706.7(DHTKD1):c.289C>A (p.Gln97Lys)
NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg) rs760903542
NM_018706.7(DHTKD1):c.310+10C>T
NM_018706.7(DHTKD1):c.310+12G>A
NM_018706.7(DHTKD1):c.310+16A>C rs1424663132
NM_018706.7(DHTKD1):c.310+2T>C
NM_018706.7(DHTKD1):c.315A>G (p.Leu105=) rs1313880752
NM_018706.7(DHTKD1):c.326G>A (p.Gly109Glu)
NM_018706.7(DHTKD1):c.329A>G (p.Lys110Arg)
NM_018706.7(DHTKD1):c.331del (p.Glu111fs)
NM_018706.7(DHTKD1):c.36C>A (p.Gly12=) rs972872618
NM_018706.7(DHTKD1):c.377A>G (p.Tyr126Cys)
NM_018706.7(DHTKD1):c.395T>C (p.Ile132Thr)
NM_018706.7(DHTKD1):c.401C>T (p.Thr134Ile)
NM_018706.7(DHTKD1):c.40G>C (p.Gly14Arg)
NM_018706.7(DHTKD1):c.40G>T (p.Gly14Cys)
NM_018706.7(DHTKD1):c.41G>C (p.Gly14Ala)
NM_018706.7(DHTKD1):c.423T>A (p.Asp141Glu)
NM_018706.7(DHTKD1):c.443A>G (p.Lys148Arg)
NM_018706.7(DHTKD1):c.445C>T (p.Arg149Trp) rs141125831
NM_018706.7(DHTKD1):c.447G>A (p.Arg149=)
NM_018706.7(DHTKD1):c.447G>T (p.Arg149=)
NM_018706.7(DHTKD1):c.451G>A (p.Glu151Lys)
NM_018706.7(DHTKD1):c.458T>G (p.Leu153Arg)
NM_018706.7(DHTKD1):c.465G>T (p.Lys155Asn)
NM_018706.7(DHTKD1):c.46G>A (p.Ala16Thr)
NM_018706.7(DHTKD1):c.471G>A (p.Thr157=)
NM_018706.7(DHTKD1):c.486G>A (p.Glu162=)
NM_018706.7(DHTKD1):c.487C>T (p.Arg163Ter)
NM_018706.7(DHTKD1):c.489A>C (p.Arg163=)
NM_018706.7(DHTKD1):c.497T>C (p.Leu166Pro)
NM_018706.7(DHTKD1):c.49C>T (p.Leu17Phe)
NM_018706.7(DHTKD1):c.501G>A (p.Ser167=)
NM_018706.7(DHTKD1):c.509T>G (p.Met170Arg)
NM_018706.7(DHTKD1):c.522+12C>A
NM_018706.7(DHTKD1):c.522+12C>T
NM_018706.7(DHTKD1):c.522+19G>C
NM_018706.7(DHTKD1):c.522+8G>A
NM_018706.7(DHTKD1):c.522+9G>T
NM_018706.7(DHTKD1):c.523-14A>T
NM_018706.7(DHTKD1):c.523-3C>T
NM_018706.7(DHTKD1):c.523-8T>G
NM_018706.7(DHTKD1):c.523G>C (p.Glu175Gln)
NM_018706.7(DHTKD1):c.52C>T (p.Pro18Ser)
NM_018706.7(DHTKD1):c.531C>T (p.Asp177=)
NM_018706.7(DHTKD1):c.543C>A (p.Ala181=) rs774720865
NM_018706.7(DHTKD1):c.543C>T (p.Ala181=) rs774720865
NM_018706.7(DHTKD1):c.554C>T (p.Ser185Leu)
NM_018706.7(DHTKD1):c.559G>C (p.Val187Leu)
NM_018706.7(DHTKD1):c.569A>T (p.Tyr190Phe)
NM_018706.7(DHTKD1):c.58= (p.Phe20=)
NM_018706.7(DHTKD1):c.606C>T (p.Phe202=)
NM_018706.7(DHTKD1):c.608A>G (p.His203Arg) rs2131357346
NM_018706.7(DHTKD1):c.613C>G (p.Leu205Val)
NM_018706.7(DHTKD1):c.624G>A (p.Met208Ile)
NM_018706.7(DHTKD1):c.635G>A (p.Ser212Asn)
NM_018706.7(DHTKD1):c.637G>A (p.Gly213Arg)
NM_018706.7(DHTKD1):c.649G>A (p.Val217Ile)
NM_018706.7(DHTKD1):c.649G>T (p.Val217Phe)
NM_018706.7(DHTKD1):c.669del (p.His223fs)
NM_018706.7(DHTKD1):c.684T>C (p.Asn228=) rs1564391006
NM_018706.7(DHTKD1):c.691A>G (p.Thr231Ala)
NM_018706.7(DHTKD1):c.698T>A (p.Leu233His)
NM_018706.7(DHTKD1):c.700C>A (p.Leu234Met) rs140003684
NM_018706.7(DHTKD1):c.700_701delinsGG (p.Leu234Gly) rs2131357438
NM_018706.7(DHTKD1):c.703C>T (p.Gln235Ter)
NM_018706.7(DHTKD1):c.710C>T (p.Pro237Leu)
NM_018706.7(DHTKD1):c.714A>G (p.Pro238=)
NM_018706.7(DHTKD1):c.717+13G>T
NM_018706.7(DHTKD1):c.717+16G>T
NM_018706.7(DHTKD1):c.718-15A>G
NM_018706.7(DHTKD1):c.718-4A>G
NM_018706.7(DHTKD1):c.718-7A>G
NM_018706.7(DHTKD1):c.721A>G (p.Met241Val)
NM_018706.7(DHTKD1):c.728G>A (p.Arg243His)
NM_018706.7(DHTKD1):c.728G>T (p.Arg243Leu) rs781779430
NM_018706.7(DHTKD1):c.736C>T (p.Arg246Ter) rs780313786
NM_018706.7(DHTKD1):c.737G>A (p.Arg246Gln)
NM_018706.7(DHTKD1):c.737G>C (p.Arg246Pro)
NM_018706.7(DHTKD1):c.748del (p.Glu250fs) rs1564391327
NM_018706.7(DHTKD1):c.761A>G (p.Asn254Ser)
NM_018706.7(DHTKD1):c.765C>T (p.Phe255=)
NM_018706.7(DHTKD1):c.773C>G (p.Thr258Ser)
NM_018706.7(DHTKD1):c.781G>A (p.Val261Ile)
NM_018706.7(DHTKD1):c.792C>T (p.His264=)
NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)
NM_018706.7(DHTKD1):c.800C>A (p.Ser267Tyr) rs764869852
NM_018706.7(DHTKD1):c.817T>C (p.Phe273Leu)
NM_018706.7(DHTKD1):c.818T>C (p.Phe273Ser)
NM_018706.7(DHTKD1):c.819T>C (p.Phe273=)
NM_018706.7(DHTKD1):c.823G>T (p.Ala275Ser)
NM_018706.7(DHTKD1):c.825G>A (p.Ala275=)
NM_018706.7(DHTKD1):c.831T>G (p.His277Gln)
NM_018706.7(DHTKD1):c.837C>G (p.Leu279=)
NM_018706.7(DHTKD1):c.841G>A (p.Val281Met)
NM_018706.7(DHTKD1):c.846A>C (p.Thr282=)
NM_018706.7(DHTKD1):c.846A>G (p.Thr282=)
NM_018706.7(DHTKD1):c.847A>T (p.Met283Leu)
NM_018706.7(DHTKD1):c.851T>C (p.Leu284Ser)
NM_018706.7(DHTKD1):c.857A>G (p.Asn286Ser)
NM_018706.7(DHTKD1):c.867C>T (p.His289=)
NM_018706.7(DHTKD1):c.868C>T (p.Leu290=)
NM_018706.7(DHTKD1):c.877G>A (p.Val293Ile)
NM_018706.7(DHTKD1):c.879C>G (p.Val293=)
NM_018706.7(DHTKD1):c.885C>T (p.Pro295=)
NM_018706.7(DHTKD1):c.890C>T (p.Ala297Val) rs1832949989
NM_018706.7(DHTKD1):c.891C>G (p.Ala297=) rs576048100
NM_018706.7(DHTKD1):c.891C>T (p.Ala297=)
NM_018706.7(DHTKD1):c.892G>A (p.Val298Met)
NM_018706.7(DHTKD1):c.905G>A (p.Arg302His)
NM_018706.7(DHTKD1):c.907G>A (p.Gly303Ser)
NM_018706.7(DHTKD1):c.908G>T (p.Gly303Val)
NM_018706.7(DHTKD1):c.909C>T (p.Gly303=)
NM_018706.7(DHTKD1):c.915G>C (p.Gln305His)
NM_018706.7(DHTKD1):c.933C>T (p.Gly311=)
NM_018706.7(DHTKD1):c.934G>A (p.Asp312Asn)
NM_018706.7(DHTKD1):c.941C>T (p.Ser314Phe)
NM_018706.7(DHTKD1):c.944C>T (p.Pro315Leu)
NM_018706.7(DHTKD1):c.94G>A (p.Gly32Ser)
NM_018706.7(DHTKD1):c.953C>T (p.Ser318Leu)
NM_018706.7(DHTKD1):c.962C>A (p.Pro321Gln)
NM_018706.7(DHTKD1):c.963G>A (p.Pro321=) rs377143488
NM_018706.7(DHTKD1):c.963G>C (p.Pro321=)
NM_018706.7(DHTKD1):c.963G>T (p.Pro321=)
NM_018706.7(DHTKD1):c.967G>A (p.Asp323Asn)
NM_018706.7(DHTKD1):c.967dup (p.Asp323fs)
NM_018706.7(DHTKD1):c.970A>G (p.Arg324Gly)
NM_018706.7(DHTKD1):c.973G>A (p.Val325Ile)
NM_018706.7(DHTKD1):c.981C>G (p.Cys327Trp)
NM_018706.7(DHTKD1):c.984A>G (p.Leu328=)
NM_018706.7(DHTKD1):c.987+4C>T
NM_018706.7(DHTKD1):c.987G>C (p.Gln329His)
NM_018706.7(DHTKD1):c.992A>G (p.His331Arg)

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