ClinVar Miner

List of variants studied for GNPTAB-mucolipidosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1176
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_024312.5(GNPTAB):c.1114-17T>C rs112075452 0.01149
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00720
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799 0.00448
NM_024312.5(GNPTAB):c.1500C>T (p.Asn500=) rs77597686 0.00317
NM_024312.5(GNPTAB):c.571+12T>C rs112056979 0.00227
NM_024312.5(GNPTAB):c.204-7G>A rs201226931 0.00087
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249 0.00083
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=) rs112000802 0.00074
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=) rs148948607 0.00058
NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn) rs138811990 0.00054
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628 0.00049
NM_024312.5(GNPTAB):c.3114C>T (p.His1038=) rs148918729 0.00043
NM_024312.5(GNPTAB):c.3335+13C>T rs187256830 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_024312.5(GNPTAB):c.3123G>A (p.Pro1041=) rs138655417 0.00041
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_024312.5(GNPTAB):c.1269C>T (p.His423=) rs111863978 0.00036
NM_024312.5(GNPTAB):c.348G>A (p.Thr116=) rs145244231 0.00034
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) rs183435240 0.00029
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576 0.00025
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser) rs146476305 0.00025
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_024312.5(GNPTAB):c.772-15C>G rs182733879 0.00022
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr) rs149718548 0.00021
NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys) rs139411012 0.00020
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741 0.00019
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_024312.5(GNPTAB):c.2915+13C>T rs370081726 0.00017
NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln) rs150841760 0.00016
NM_024312.5(GNPTAB):c.222G>A (p.Pro74=) rs144607483 0.00015
NM_024312.5(GNPTAB):c.1302T>G (p.Pro434=) rs113038721 0.00013
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950 0.00012
NM_024312.5(GNPTAB):c.2316A>G (p.Lys772=) rs375968069 0.00011
NM_024312.5(GNPTAB):c.2715C>T (p.Asp905=) rs374249911 0.00011
NM_024312.5(GNPTAB):c.2559A>C (p.Thr853=) rs754863486 0.00010
NM_024312.5(GNPTAB):c.2748C>T (p.Tyr916=) rs143931833 0.00010
NM_024312.5(GNPTAB):c.2915+15T>C rs201970402 0.00010
NM_024312.5(GNPTAB):c.3158T>C (p.Met1053Thr) rs150160103 0.00010
NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr) rs373314316 0.00010
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg) rs145281185 0.00009
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061 0.00009
NM_024312.5(GNPTAB):c.984A>G (p.Glu328=) rs376330291 0.00009
NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly) rs151209875 0.00008
NM_024312.5(GNPTAB):c.2304A>C (p.Lys768Asn) rs558911370 0.00008
NM_024312.5(GNPTAB):c.2705A>G (p.Asp902Gly) rs375156660 0.00007
NM_024312.5(GNPTAB):c.2886C>T (p.Asp962=) rs368650569 0.00007
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00007
NM_024312.5(GNPTAB):c.118-7G>T rs756332800 0.00006
NM_024312.5(GNPTAB):c.1285-4G>A rs202070254 0.00006
NM_024312.5(GNPTAB):c.1612+10C>T rs763808896 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile) rs188192351 0.00006
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val) rs374265672 0.00006
NM_024312.5(GNPTAB):c.2118C>T (p.Asp706=) rs766863289 0.00006
NM_024312.5(GNPTAB):c.3336-6A>G rs371971179 0.00006
NM_024312.5(GNPTAB):c.66G>A (p.Val22=) rs145111787 0.00006
NM_024312.5(GNPTAB):c.793A>G (p.Ser265Gly) rs779150416 0.00006
NM_024312.5(GNPTAB):c.933+7G>T rs757302795 0.00006
NM_024312.5(GNPTAB):c.1612+13C>T rs760311424 0.00005
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NM_024312.5(GNPTAB):c.2367T>A (p.Thr789=) rs139186716 0.00005
NM_024312.5(GNPTAB):c.2439A>T (p.Thr813=) rs752590435 0.00005
NM_024312.5(GNPTAB):c.3174A>G (p.Ser1058=) rs140872911 0.00005
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024312.5(GNPTAB):c.1800C>T (p.Leu600=) rs534858651 0.00004
NM_024312.5(GNPTAB):c.1848G>A (p.Thr616=) rs376352491 0.00004
NM_024312.5(GNPTAB):c.203G>A (p.Arg68Gln) rs145725972 0.00004
NM_024312.5(GNPTAB):c.2862T>C (p.Pro954=) rs780618202 0.00004
NM_024312.5(GNPTAB):c.3268C>T (p.Leu1090=) rs762608959 0.00004
NM_024312.5(GNPTAB):c.459C>T (p.Asp153=) rs767720615 0.00004
NM_024312.5(GNPTAB):c.534C>G (p.Thr178=) rs777525816 0.00004
NM_024312.5(GNPTAB):c.921C>T (p.Ser307=) rs749705502 0.00004
NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) rs281864970 0.00003
NM_024312.5(GNPTAB):c.1030C>T (p.Arg344Trp) rs1480305030 0.00003
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln) rs745438711 0.00003
NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=) rs757765886 0.00003
NM_024312.5(GNPTAB):c.1383C>T (p.Cys461=) rs377176041 0.00003
NM_024312.5(GNPTAB):c.1801A>G (p.Ile601Val) rs1406478775 0.00003
NM_024312.5(GNPTAB):c.1998T>C (p.Phe666=) rs752926210 0.00003
NM_024312.5(GNPTAB):c.216C>T (p.Pro72=) rs1465667194 0.00003
NM_024312.5(GNPTAB):c.2271A>G (p.Glu757=) rs187804764 0.00003
NM_024312.5(GNPTAB):c.2394T>C (p.Asn798=) rs769106882 0.00003
NM_024312.5(GNPTAB):c.2915+14G>A rs561347282 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_024312.5(GNPTAB):c.3591G>A (p.Glu1197=) rs750709036 0.00003
NM_024312.5(GNPTAB):c.378A>G (p.Leu126=) rs576672625 0.00003
NM_024312.5(GNPTAB):c.54T>C (p.Tyr18=) rs749134354 0.00003
NM_024312.5(GNPTAB):c.572-7G>T rs371104898 0.00003
NM_024312.5(GNPTAB):c.580G>A (p.Ala194Thr) rs767422341 0.00003
NM_024312.5(GNPTAB):c.771+10T>C rs780753373 0.00003
NM_024312.5(GNPTAB):c.772T>C (p.Leu258=) rs1042427154 0.00003
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526 0.00003
NM_024312.5(GNPTAB):c.1023A>G (p.Pro341=) rs750876420 0.00002
NM_024312.5(GNPTAB):c.1113+12T>G rs757949849 0.00002
NM_024312.5(GNPTAB):c.1285-5C>T rs180741802 0.00002
NM_024312.5(GNPTAB):c.1317C>T (p.Ala439=) rs781704040 0.00002
NM_024312.5(GNPTAB):c.1613-6C>T rs115615575 0.00002
NM_024312.5(GNPTAB):c.1653C>T (p.Asn551=) rs901497614 0.00002
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274 0.00002
NM_024312.5(GNPTAB):c.1856A>G (p.Asn619Ser) rs746584582 0.00002
NM_024312.5(GNPTAB):c.1929T>G (p.Ser643=) rs199921889 0.00002
NM_024312.5(GNPTAB):c.2334C>T (p.Ser778=) rs371253750 0.00002
NM_024312.5(GNPTAB):c.2502G>A (p.Lys834=) rs769033819 0.00002
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001 0.00002
NM_024312.5(GNPTAB):c.2715+9C>T rs1369342144 0.00002
NM_024312.5(GNPTAB):c.2907G>T (p.Leu969=) rs762722597 0.00002
NM_024312.5(GNPTAB):c.3120G>A (p.Leu1040=) rs554111631 0.00002
NM_024312.5(GNPTAB):c.3132G>A (p.Leu1044=) rs1368324878 0.00002
NM_024312.5(GNPTAB):c.3694-7C>T rs760239161 0.00002
NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter) rs774506925 0.00002
NM_024312.5(GNPTAB):c.390A>G (p.Leu130=) rs748130578 0.00002
NM_024312.5(GNPTAB):c.512C>T (p.Ala171Val) rs746860631 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_024312.5(GNPTAB):c.6G>A (p.Leu2=) rs755520570 0.00002
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025 0.00002
NM_024312.5(GNPTAB):c.861C>T (p.Asn287=) rs1393795367 0.00002
NM_024312.5(GNPTAB):c.954C>T (p.Ile318=) rs150451045 0.00002
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.1008C>T (p.Ile336=) rs372546182 0.00001
NM_024312.5(GNPTAB):c.1031G>A (p.Arg344Gln) rs1594219189 0.00001
NM_024312.5(GNPTAB):c.1053C>T (p.Asn351=) rs749261391 0.00001
NM_024312.5(GNPTAB):c.1086T>C (p.Asn362=) rs908316825 0.00001
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_024312.5(GNPTAB):c.1114-14G>A rs776493814 0.00001
NM_024312.5(GNPTAB):c.118-11C>T rs754113133 0.00001
NM_024312.5(GNPTAB):c.1185C>T (p.Ile395=) rs564430600 0.00001
NM_024312.5(GNPTAB):c.1192C>T (p.Leu398=) rs147645211 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024312.5(GNPTAB):c.1209T>C (p.Ile403=) rs947905285 0.00001
NM_024312.5(GNPTAB):c.1263C>T (p.Tyr421=) rs771724795 0.00001
NM_024312.5(GNPTAB):c.1409-10C>T rs201764121 0.00001
NM_024312.5(GNPTAB):c.1410A>C (p.Gly470=) rs1436941337 0.00001
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=) rs775742250 0.00001
NM_024312.5(GNPTAB):c.1468G>A (p.Gly490Arg) rs751461873 0.00001
NM_024312.5(GNPTAB):c.1491A>C (p.Gly497=) rs1198481329 0.00001
NM_024312.5(GNPTAB):c.1506C>T (p.Val502=) rs1267082696 0.00001
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980 0.00001
NM_024312.5(GNPTAB):c.1530G>A (p.Ala510=) rs776105842 0.00001
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp) rs749452608 0.00001
NM_024312.5(GNPTAB):c.1596T>C (p.Ala532=) rs1275023865 0.00001
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374 0.00001
NM_024312.5(GNPTAB):c.1612+8T>G rs535977057 0.00001
NM_024312.5(GNPTAB):c.1689G>A (p.Leu563=) rs552728140 0.00001
NM_024312.5(GNPTAB):c.1695T>C (p.Tyr565=) rs1449758021 0.00001
NM_024312.5(GNPTAB):c.1728T>C (p.Val576=) rs749161781 0.00001
NM_024312.5(GNPTAB):c.1740T>C (p.Tyr580=) rs1429951200 0.00001
NM_024312.5(GNPTAB):c.1866T>C (p.Asp622=) rs1953067542 0.00001
NM_024312.5(GNPTAB):c.1875C>A (p.Phe625Leu) rs137853823 0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553 0.00001
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys) rs779572693 0.00001
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val) rs142172397 0.00001
NM_024312.5(GNPTAB):c.203+10A>G rs532174212 0.00001
NM_024312.5(GNPTAB):c.2031G>A (p.Lys677=) rs1409337079 0.00001
NM_024312.5(GNPTAB):c.2052C>T (p.Asn684=) rs1953062185 0.00001
NM_024312.5(GNPTAB):c.2055A>G (p.Ser685=) rs775174984 0.00001
NM_024312.5(GNPTAB):c.2058A>T (p.Thr686=) rs771700410 0.00001
NM_024312.5(GNPTAB):c.2072_2073insG (p.Glu692fs) rs1043530261 0.00001
NM_024312.5(GNPTAB):c.2094A>G (p.Val698=) rs778029826 0.00001
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr) rs376620571 0.00001
NM_024312.5(GNPTAB):c.2130T>C (p.Ser710=) rs761049945 0.00001
NM_024312.5(GNPTAB):c.2133C>G (p.Leu711=) rs976305877 0.00001
NM_024312.5(GNPTAB):c.2140T>C (p.Leu714=) rs761690839 0.00001
NM_024312.5(GNPTAB):c.215C>T (p.Pro72Leu) rs755156585 0.00001
NM_024312.5(GNPTAB):c.2196G>A (p.Lys732=) rs281864989 0.00001
NM_024312.5(GNPTAB):c.2274A>C (p.Thr758=) rs1406898542 0.00001
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=) rs540190619 0.00001
NM_024312.5(GNPTAB):c.229G>A (p.Val77Ile) rs985184620 0.00001
NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys) rs765924360 0.00001
NM_024312.5(GNPTAB):c.2419C>T (p.Pro807Ser) rs745952026 0.00001
NM_024312.5(GNPTAB):c.2451A>T (p.Arg817Ser) rs754852059 0.00001
NM_024312.5(GNPTAB):c.2493A>G (p.Thr831=) rs1480385662 0.00001
NM_024312.5(GNPTAB):c.2504C>T (p.Pro835Leu) rs550940255 0.00001
NM_024312.5(GNPTAB):c.2505C>T (p.Pro835=) rs775650744 0.00001
NM_024312.5(GNPTAB):c.2508A>G (p.Pro836=) rs1366004104 0.00001
NM_024312.5(GNPTAB):c.257A>C (p.Asp86Ala) rs763827719 0.00001
NM_024312.5(GNPTAB):c.2592A>G (p.Glu864=) rs758142856 0.00001
NM_024312.5(GNPTAB):c.259C>T (p.Leu87Phe) rs1868888946 0.00001
NM_024312.5(GNPTAB):c.2619T>C (p.Thr873=) rs1423693435 0.00001
NM_024312.5(GNPTAB):c.2655A>T (p.Thr885=) rs749436226 0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024312.5(GNPTAB):c.2670C>T (p.Gly890=) rs768648656 0.00001
NM_024312.5(GNPTAB):c.2712C>T (p.Leu904=) rs371978747 0.00001
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031 0.00001
NM_024312.5(GNPTAB):c.2715+3A>G rs766588869 0.00001
NM_024312.5(GNPTAB):c.2716-13A>T rs1006106723 0.00001
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg) rs752519391 0.00001
NM_024312.5(GNPTAB):c.2763A>G (p.Lys921=) rs765486254 0.00001
NM_024312.5(GNPTAB):c.2850G>A (p.Ser950=) rs750905375 0.00001
NM_024312.5(GNPTAB):c.2897T>C (p.Met966Thr) rs760807924 0.00001
NM_024312.5(GNPTAB):c.2940G>A (p.Thr980=) rs1454031246 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_024312.5(GNPTAB):c.3069T>G (p.Gly1023=) rs1293706594 0.00001
NM_024312.5(GNPTAB):c.3089T>C (p.Ile1030Thr) rs752836561 0.00001
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009 0.00001
NM_024312.5(GNPTAB):c.3102T>C (p.Ala1034=) rs750412010 0.00001
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896 0.00001
NM_024312.5(GNPTAB):c.3118C>T (p.Leu1040=) rs771656592 0.00001
NM_024312.5(GNPTAB):c.3148C>A (p.Leu1050Met) rs1402805700 0.00001
NM_024312.5(GNPTAB):c.322A>T (p.Arg108Ter) rs770176191 0.00001
NM_024312.5(GNPTAB):c.3250-12A>G rs745938838 0.00001
NM_024312.5(GNPTAB):c.3250-4A>T rs1159310280 0.00001
NM_024312.5(GNPTAB):c.325G>T (p.Glu109Ter) rs377553632 0.00001
NM_024312.5(GNPTAB):c.3265A>T (p.Ser1089Cys) rs766107961 0.00001
NM_024312.5(GNPTAB):c.3312A>G (p.Ala1104=) rs1952922219 0.00001
NM_024312.5(GNPTAB):c.3336-8A>T rs1171322895 0.00001
NM_024312.5(GNPTAB):c.3363C>T (p.Ile1121=) rs1282744287 0.00001
NM_024312.5(GNPTAB):c.3387C>T (p.Asn1129=) rs551411643 0.00001
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232 0.00001
NM_024312.5(GNPTAB):c.3435G>A (p.Arg1145=) rs1451696033 0.00001
NM_024312.5(GNPTAB):c.3525G>T (p.Met1175Ile) rs772131427 0.00001
NM_024312.5(GNPTAB):c.3552G>A (p.Leu1184=) rs769340984 0.00001
NM_024312.5(GNPTAB):c.3555A>G (p.Pro1185=) rs182600512 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.3603-10C>G rs1389316737 0.00001
NM_024312.5(GNPTAB):c.3645A>G (p.Val1215=) rs766210976 0.00001
NM_024312.5(GNPTAB):c.365+7A>T rs1376780570 0.00001
NM_024312.5(GNPTAB):c.3655T>C (p.Leu1219=) rs772920902 0.00001
NM_024312.5(GNPTAB):c.3696A>G (p.Leu1232=) rs749762312 0.00001
NM_024312.5(GNPTAB):c.3702A>G (p.Ala1234=) rs1566064330 0.00001
NM_024312.5(GNPTAB):c.3753C>T (p.Pro1251=) rs1050927605 0.00001
NM_024312.5(GNPTAB):c.396C>G (p.His132Gln) rs781230173 0.00001
NM_024312.5(GNPTAB):c.420C>T (p.Val140=) rs746886323 0.00001
NM_024312.5(GNPTAB):c.422T>C (p.Leu141Pro) rs1051498174 0.00001
NM_024312.5(GNPTAB):c.42G>C (p.Leu14=) rs376257286 0.00001
NM_024312.5(GNPTAB):c.432C>T (p.Ala144=) rs374006088 0.00001
NM_024312.5(GNPTAB):c.433C>T (p.Leu145=) rs753322857 0.00001
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) rs281864947 0.00001
NM_024312.5(GNPTAB):c.452T>G (p.Leu151Arg) rs200015550 0.00001
NM_024312.5(GNPTAB):c.564T>G (p.Thr188=) rs1439685364 0.00001
NM_024312.5(GNPTAB):c.571+8C>A rs1219474346 0.00001
NM_024312.5(GNPTAB):c.573T>C (p.Val191=) rs1157052984 0.00001
NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly) rs935456185 0.00001
NM_024312.5(GNPTAB):c.594G>A (p.Leu198=) rs774147213 0.00001
NM_024312.5(GNPTAB):c.59T>G (p.Leu20Arg) rs769506610 0.00001
NM_024312.5(GNPTAB):c.609C>G (p.Ser203Arg) rs529994474 0.00001
NM_024312.5(GNPTAB):c.613C>T (p.Gln205Ter) rs1953327287 0.00001
NM_024312.5(GNPTAB):c.637-6T>G rs750793712 0.00001
NM_024312.5(GNPTAB):c.64G>A (p.Val22Met) rs1448327145 0.00001
NM_024312.5(GNPTAB):c.660A>G (p.Gly220=) rs759476195 0.00001
NM_024312.5(GNPTAB):c.687C>T (p.Phe229=) rs1389848190 0.00001
NM_024312.5(GNPTAB):c.702A>G (p.Pro234=) rs773032599 0.00001
NM_024312.5(GNPTAB):c.720A>C (p.Thr240=) rs1439827133 0.00001
NM_024312.5(GNPTAB):c.794G>T (p.Ser265Ile) rs946939427 0.00001
NM_024312.5(GNPTAB):c.801G>A (p.Ala267=) rs764029931 0.00001
NM_024312.5(GNPTAB):c.872A>G (p.Asp291Gly) rs775153910 0.00001
NM_024312.5(GNPTAB):c.934-14A>G rs766980401 0.00001
NM_024312.5(GNPTAB):c.934-19T>C rs766680130 0.00001
NM_024312.5(GNPTAB):c.951C>T (p.Asp317=) rs1953156564 0.00001
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824 0.00001
NM_024312.5(GNPTAB):c.96C>T (p.Val32=) rs1228470835 0.00001
NM_024312.5(GNPTAB):c.978C>T (p.Asn326=) rs747179171 0.00001
NC_000012.11:g.(?_102140922)_(102224473_?)dup
NC_000012.11:g.(?_102140932)_(102155551_?)del
NC_000012.11:g.(?_102140932)_(102224463_?)del
NC_000012.11:g.(?_102147130)_(102164955_?)del
NC_000012.11:g.(?_102157970)_(102174409_?)del
NC_000012.11:g.(?_102158416)_(102185374_?)del
NC_000012.11:g.(?_102173920)_(102174409_?)del
NC_000012.11:g.(?_102173920)_(102224463_?)del
NC_000012.11:g.(?_102190445)_(102190550_?)dup
NC_000012.11:g.(?_102224317)_(102224473_?)dup
NC_000012.11:g.(?_102224327)_(102224463_?)dup
NC_000012.12:g.(?_101747144)_(101796782_?)del
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) rs281864970
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024312.5(GNPTAB):c.1023A>C (p.Pro341=)
NM_024312.5(GNPTAB):c.1027G>T (p.Val343Phe) rs140518816
NM_024312.5(GNPTAB):c.1038T>C (p.Ile346=)
NM_024312.5(GNPTAB):c.1047C>T (p.Val349=) rs2137124044
NM_024312.5(GNPTAB):c.1050C>T (p.Thr350=)
NM_024312.5(GNPTAB):c.1051A>G (p.Asn351Asp)
NM_024312.5(GNPTAB):c.1052A>G (p.Asn351Ser)
NM_024312.5(GNPTAB):c.1052dup (p.Asn351fs)
NM_024312.5(GNPTAB):c.105C>T (p.Phe35=) rs750883777
NM_024312.5(GNPTAB):c.1065A>G (p.Pro355=)
NM_024312.5(GNPTAB):c.1071G>A (p.Trp357Ter) rs2137124017
NM_024312.5(GNPTAB):c.1072C>T (p.Leu358=) rs2137124012
NM_024312.5(GNPTAB):c.1094T>C (p.Val365Ala)
NM_024312.5(GNPTAB):c.1104A>G (p.Val368=) rs565900629
NM_024312.5(GNPTAB):c.1104A>T (p.Val368=) rs565900629
NM_024312.5(GNPTAB):c.1110C>T (p.His370=) rs1953152857
NM_024312.5(GNPTAB):c.1113+19del
NM_024312.5(GNPTAB):c.1113+1G>T
NM_024312.5(GNPTAB):c.1113+3A>G rs1428507375
NM_024312.5(GNPTAB):c.1113+4C>A
NM_024312.5(GNPTAB):c.1113+7G>T rs1214100527
NM_024312.5(GNPTAB):c.1113+9C>T
NM_024312.5(GNPTAB):c.1114-11G>T
NM_024312.5(GNPTAB):c.1114-14GTT[2] rs758859457
NM_024312.5(GNPTAB):c.1114-16T>G
NM_024312.5(GNPTAB):c.1114-18G>A
NM_024312.5(GNPTAB):c.1114-19dup
NM_024312.5(GNPTAB):c.1114-20_1114-19del
NM_024312.5(GNPTAB):c.1114-22_1114-19del
NM_024312.5(GNPTAB):c.1114-2A>G rs2137123738
NM_024312.5(GNPTAB):c.1114-8G>A rs2137123743
NM_024312.5(GNPTAB):c.1114-8_1119del rs2137123733
NM_024312.5(GNPTAB):c.1119T>C (p.Val373=)
NM_024312.5(GNPTAB):c.111C>T (p.Phe37=) rs1871315020
NM_024312.5(GNPTAB):c.1122dup (p.Arg375fs) rs2137123723
NM_024312.5(GNPTAB):c.1123C>A (p.Arg375=)
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
NM_024312.5(GNPTAB):c.1149T>C (p.Phe383=)
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.1161T>C (p.Ala387=) rs1480183502
NM_024312.5(GNPTAB):c.1164T>C (p.Ile388=) rs2137123654
NM_024312.5(GNPTAB):c.117+12C>T
NM_024312.5(GNPTAB):c.117+14C>G
NM_024312.5(GNPTAB):c.117+15C>G rs886048854
NM_024312.5(GNPTAB):c.117+15C>T rs886048854
NM_024312.5(GNPTAB):c.117+16G>A
NM_024312.5(GNPTAB):c.117+16_117+34del
NM_024312.5(GNPTAB):c.117+1G>T rs1324141092
NM_024312.5(GNPTAB):c.117+9C>A rs374108887
NM_024312.5(GNPTAB):c.117+9C>G
NM_024312.5(GNPTAB):c.117+9C>T rs374108887
NM_024312.5(GNPTAB):c.1173C>T (p.His391=) rs142320578
NM_024312.5(GNPTAB):c.118-12dup
NM_024312.5(GNPTAB):c.118-13T>C
NM_024312.5(GNPTAB):c.118-16T>A
NM_024312.5(GNPTAB):c.118-19T>C
NM_024312.5(GNPTAB):c.118-1G>A rs1301743166
NM_024312.5(GNPTAB):c.118-2A>G rs281865023
NM_024312.5(GNPTAB):c.118-4C>T rs2137158860
NM_024312.5(GNPTAB):c.118-6T>A
NM_024312.5(GNPTAB):c.118-6T>C rs2137158865
NM_024312.5(GNPTAB):c.118-8T>C
NM_024312.5(GNPTAB):c.118-8del
NM_024312.5(GNPTAB):c.1182C>T (p.Arg394=) rs2137123620
NM_024312.5(GNPTAB):c.1185C>G (p.Ile395Met)
NM_024312.5(GNPTAB):c.1186G>T (p.Glu396Ter) rs1245543262
NM_024312.5(GNPTAB):c.1188A>G (p.Glu396=)
NM_024312.5(GNPTAB):c.1191G>A (p.Gly397=)
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr) rs281864973
NM_024312.5(GNPTAB):c.1209T>G (p.Ile403Met) rs947905285
NM_024312.5(GNPTAB):c.1212C>G (p.Tyr404Ter)
NM_024312.5(GNPTAB):c.1218T>C (p.Asn406=) rs2137123516
NM_024312.5(GNPTAB):c.1219G>A (p.Asp407Asn) rs776478014
NM_024312.5(GNPTAB):c.1221T>C (p.Asp407=) rs2137123504
NM_024312.5(GNPTAB):c.1227C>A (p.Val409=)
NM_024312.5(GNPTAB):c.1230G>C (p.Met410Ile)
NM_024312.5(GNPTAB):c.1239G>A (p.Lys413=)
NM_024312.5(GNPTAB):c.1246dup (p.Trp416fs)
NM_024312.5(GNPTAB):c.1247G>A (p.Trp416Ter) rs1201536920
NM_024312.5(GNPTAB):c.1257T>C (p.Asp419=) rs2137123447
NM_024312.5(GNPTAB):c.1281G>A (p.Gln427=) rs2137123389
NM_024312.5(GNPTAB):c.1284+16G>A
NM_024312.5(GNPTAB):c.1284+18G>C
NM_024312.5(GNPTAB):c.1284+1G>T rs1256349457
NM_024312.5(GNPTAB):c.1284+9del rs2137123350
NM_024312.5(GNPTAB):c.1285-18T>C
NM_024312.5(GNPTAB):c.1285-18T>G
NM_024312.5(GNPTAB):c.1285-24_1285-20del
NM_024312.5(GNPTAB):c.1285-4G>T
NM_024312.5(GNPTAB):c.1285-5C>G
NM_024312.5(GNPTAB):c.1285-8T>C rs2137121404
NM_024312.5(GNPTAB):c.1290T>C (p.Tyr430=)
NM_024312.5(GNPTAB):c.1292T>A (p.Leu431Ter) rs2137121384
NM_024312.5(GNPTAB):c.1293G>A (p.Leu431=) rs2137121380
NM_024312.5(GNPTAB):c.1296A>G (p.Thr432=) rs774032567
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter) rs398124397
NM_024312.5(GNPTAB):c.12G>A (p.Lys4=) rs2137197871
NM_024312.5(GNPTAB):c.1302T>C (p.Pro434=) rs113038721
NM_024312.5(GNPTAB):c.1311C>T (p.Asn437=)
NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr) rs281864975
NM_024312.5(GNPTAB):c.1329A>G (p.Pro443=) rs750643352
NM_024312.5(GNPTAB):c.1335C>T (p.Ser445=)
NM_024312.5(GNPTAB):c.1345del (p.Asp449fs)
NM_024312.5(GNPTAB):c.1356T>C (p.Cys452=)
NM_024312.5(GNPTAB):c.1362G>A (p.Lys454=)
NM_024312.5(GNPTAB):c.1364C>T (p.Ala455Val)
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1377A>G (p.Ser459=) rs374302256
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1408+17C>T
NM_024312.5(GNPTAB):c.1408+18T>C
NM_024312.5(GNPTAB):c.1408+19G>A
NM_024312.5(GNPTAB):c.1408+19_1408+20del
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.1408+5G>C
NM_024312.5(GNPTAB):c.1408+7A>T
NM_024312.5(GNPTAB):c.1408+9G>A rs1450013091
NM_024312.5(GNPTAB):c.1408+9G>T rs1450013091
NM_024312.5(GNPTAB):c.1409-14C>A rs2137119351
NM_024312.5(GNPTAB):c.1409-15T>C
NM_024312.5(GNPTAB):c.1409-17C>T
NM_024312.5(GNPTAB):c.1409-18T>G
NM_024312.5(GNPTAB):c.1409-19T>C
NM_024312.5(GNPTAB):c.1409-1G>A
NM_024312.5(GNPTAB):c.1409-2A>G rs1953092495
NM_024312.5(GNPTAB):c.1409-3C>T
NM_024312.5(GNPTAB):c.1409-7T>C rs2137119332
NM_024312.5(GNPTAB):c.1409-8A>C rs533124195
NM_024312.5(GNPTAB):c.1409-8A>T rs533124195
NM_024312.5(GNPTAB):c.1409-9G>A rs764761611
NM_024312.5(GNPTAB):c.1409-9G>C
NM_024312.5(GNPTAB):c.1409-9G>T rs764761611
NM_024312.5(GNPTAB):c.1416_1420del (p.Ser472fs)
NM_024312.5(GNPTAB):c.142C>G (p.Gln48Glu) rs2137158804
NM_024312.5(GNPTAB):c.142C>T (p.Gln48Ter)
NM_024312.5(GNPTAB):c.1450dup (p.Thr484fs)
NM_024312.5(GNPTAB):c.1452dup (p.Gly485fs)
NM_024312.5(GNPTAB):c.1455G>A (p.Gly485=)
NM_024312.5(GNPTAB):c.1464A>G (p.Gly488=) rs1594215721
NM_024312.5(GNPTAB):c.1467T>C (p.Val489=)
NM_024312.5(GNPTAB):c.1467del (p.Gly490fs) rs2137119229
NM_024312.5(GNPTAB):c.1471C>T (p.Gln491Ter)
NM_024312.5(GNPTAB):c.1476C>T (p.Pro492=) rs2137119197
NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)
NM_024312.5(GNPTAB):c.147C>G (p.Tyr49Ter)
NM_024312.5(GNPTAB):c.1488T>C (p.Gly496=)
NM_024312.5(GNPTAB):c.1491del (p.Gly498fs) rs2137119177
NM_024312.5(GNPTAB):c.1495del (p.Gly498_Ile499insTer)
NM_024312.5(GNPTAB):c.1498A>T (p.Asn500Tyr) rs2137119160
NM_024312.5(GNPTAB):c.1499del (p.Asn500fs) rs2137119157
NM_024312.5(GNPTAB):c.14T>C (p.Leu5Pro)
NM_024312.5(GNPTAB):c.1503_1521dup (p.Gly508delinsCysLeuLeuLeuTer) rs2137119084
NM_024312.5(GNPTAB):c.1511del (p.Tyr504fs) rs1479370932
NM_024312.5(GNPTAB):c.1515T>C (p.Cys505=) rs2137119111
NM_024312.5(GNPTAB):c.1517A>T (p.Asn506Ile)
NM_024312.5(GNPTAB):c.1518T>C (p.Asn506=) rs763650762
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter) rs281864981
NM_024312.5(GNPTAB):c.1523G>A (p.Gly508Glu)
NM_024312.5(GNPTAB):c.1524A>T (p.Gly508=) rs2137119068
NM_024312.5(GNPTAB):c.1536C>G (p.Ser512=)
NM_024312.5(GNPTAB):c.1542C>T (p.Leu514=) rs1414333083
NM_024312.5(GNPTAB):c.1543G>T (p.Ala515Ser) rs771144768
NM_024312.5(GNPTAB):c.1560C>T (p.Asp520=) rs1187820226
NM_024312.5(GNPTAB):c.1566A>G (p.Ala522=) rs1953089573
NM_024312.5(GNPTAB):c.1569C>T (p.Cys523=)
NM_024312.5(GNPTAB):c.157_160del (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1581C>T (p.Ser527=) rs2137118984
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1609C>T (p.Gln537Ter)
NM_024312.5(GNPTAB):c.1612+11T>C
NM_024312.5(GNPTAB):c.1612+13C>A
NM_024312.5(GNPTAB):c.1612+15A>G
NM_024312.5(GNPTAB):c.1612+16A>C
NM_024312.5(GNPTAB):c.1612+17A>C
NM_024312.5(GNPTAB):c.1612+18C>G
NM_024312.5(GNPTAB):c.1612+1G>A rs1566075180
NM_024312.5(GNPTAB):c.1612+7T>C
NM_024312.5(GNPTAB):c.1612+9A>G rs2137118903
NM_024312.5(GNPTAB):c.1613-16_1613-15del
NM_024312.5(GNPTAB):c.1613-1G>C
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.1613-5T>C
NM_024312.5(GNPTAB):c.1613-8_1613-7delinsAT rs2137118098
NM_024312.5(GNPTAB):c.1624G>T (p.Glu542Ter) rs2137118051
NM_024312.5(GNPTAB):c.1629G>A (p.Leu543=) rs1594214928
NM_024312.5(GNPTAB):c.1641C>A (p.Ile547=)
NM_024312.5(GNPTAB):c.1647C>A (p.Leu549=)
NM_024312.5(GNPTAB):c.1647C>G (p.Leu549=)
NM_024312.5(GNPTAB):c.1647C>T (p.Leu549=) rs200931892
NM_024312.5(GNPTAB):c.1648C>G (p.Pro550Ala)
NM_024312.5(GNPTAB):c.1650A>G (p.Pro550=)
NM_024312.5(GNPTAB):c.165C>G (p.Ser55=)
NM_024312.5(GNPTAB):c.165C>T (p.Ser55=)
NM_024312.5(GNPTAB):c.1662C>A (p.His554Gln) rs146177204
NM_024312.5(GNPTAB):c.1662C>G (p.His554Gln)
NM_024312.5(GNPTAB):c.1664A>G (p.Tyr555Cys)
NM_024312.5(GNPTAB):c.1665del (p.His554_Tyr555insTer)
NM_024312.5(GNPTAB):c.1684T>C (p.Cys562Arg)
NM_024312.5(GNPTAB):c.1731A>G (p.Glu577=)
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.1760G>A (p.Arg587Gln)
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.176A>C (p.Asn59Thr)
NM_024312.5(GNPTAB):c.1770T>C (p.Ser590=)
NM_024312.5(GNPTAB):c.1779C>T (p.Asn593=)
NM_024312.5(GNPTAB):c.178_179del (p.Ile60fs) rs1869312922
NM_024312.5(GNPTAB):c.1794C>T (p.Ile598=)
NM_024312.5(GNPTAB):c.1809C>T (p.His603=)
NM_024312.5(GNPTAB):c.1810A>G (p.Ser604Gly)
NM_024312.5(GNPTAB):c.1824C>T (p.Ala608=)
NM_024312.5(GNPTAB):c.1830A>C (p.Thr610=)
NM_024312.5(GNPTAB):c.1830A>G (p.Thr610=) rs769434316
NM_024312.5(GNPTAB):c.1847C>T (p.Thr616Met)
NM_024312.5(GNPTAB):c.1848G>C (p.Thr616=)
NM_024312.5(GNPTAB):c.1857T>C (p.Asn619=)
NM_024312.5(GNPTAB):c.1858_1880del (p.Thr620fs)
NM_024312.5(GNPTAB):c.1863C>T (p.Asn621=) rs758930596
NM_024312.5(GNPTAB):c.1869A>G (p.Glu623=)
NM_024312.5(GNPTAB):c.1871del (p.Glu624fs) rs2137117586
NM_024312.5(GNPTAB):c.1872G>A (p.Glu624=) rs1433817985
NM_024312.5(GNPTAB):c.1881G>T (p.Met627Ile) rs757613660
NM_024312.5(GNPTAB):c.1893G>A (p.Val631=) rs2137117531
NM_024312.5(GNPTAB):c.18G>T (p.Leu6=) rs4764655
NM_024312.5(GNPTAB):c.1903A>C (p.Thr635Pro)
NM_024312.5(GNPTAB):c.1905_1908del (p.Glu637fs) rs1441014377
NM_024312.5(GNPTAB):c.1906del (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1917A>C (p.Pro639=) rs1216130552
NM_024312.5(GNPTAB):c.1917A>G (p.Pro639=)
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.1932A>C (p.Thr644=)
NM_024312.5(GNPTAB):c.1932A>T (p.Thr644=)
NM_024312.5(GNPTAB):c.1936dup (p.Gln646fs) rs2137117445
NM_024312.5(GNPTAB):c.1945T>C (p.Tyr649His)
NM_024312.5(GNPTAB):c.1946dup (p.Tyr649Ter)
NM_024312.5(GNPTAB):c.1947C>T (p.Tyr649=) rs746619207
NM_024312.5(GNPTAB):c.1949A>G (p.Glu650Gly)
NM_024312.5(GNPTAB):c.1955T>G (p.Leu652Ter) rs1953064841
NM_024312.5(GNPTAB):c.1956dup (p.Val653fs) rs1953064795
NM_024312.5(GNPTAB):c.1959T>C (p.Val653=)
NM_024312.5(GNPTAB):c.1959T>G (p.Val653=)
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs) rs1429181351
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1962T>C (p.Ser654=)
NM_024312.5(GNPTAB):c.1965C>T (p.Pro655=) rs2137117368
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer) rs281864984
NM_024312.5(GNPTAB):c.1971A>C (p.Thr657=)
NM_024312.5(GNPTAB):c.1971A>T (p.Thr657=)
NM_024312.5(GNPTAB):c.2004T>C (p.Asp668=)
NM_024312.5(GNPTAB):c.2007T>C (p.Ile669=) rs767815801
NM_024312.5(GNPTAB):c.2012A>G (p.Lys671Arg) rs145408865
NM_024312.5(GNPTAB):c.2016A>G (p.Glu672=)
NM_024312.5(GNPTAB):c.2020C>T (p.Arg674Cys)
NM_024312.5(GNPTAB):c.2025C>T (p.Phe675=)
NM_024312.5(GNPTAB):c.2027C>T (p.Pro676Leu)
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp) rs531738916
NM_024312.5(GNPTAB):c.203+10A>C rs532174212
NM_024312.5(GNPTAB):c.203+14del rs755771895
NM_024312.5(GNPTAB):c.203+1G>A
NM_024312.5(GNPTAB):c.203+2T>C rs1594242785
NM_024312.5(GNPTAB):c.2036dup (p.Arg680fs)
NM_024312.5(GNPTAB):c.204-13T>G
NM_024312.5(GNPTAB):c.204-19A>G
NM_024312.5(GNPTAB):c.204-2A>G
NM_024312.5(GNPTAB):c.204-5C>G
NM_024312.5(GNPTAB):c.204-5C>T
NM_024312.5(GNPTAB):c.204-6C>T
NM_024312.5(GNPTAB):c.204-8dup
NM_024312.5(GNPTAB):c.2042A>G (p.His681Arg) rs1262269049
NM_024312.5(GNPTAB):c.2043T>C (p.His681=)
NM_024312.5(GNPTAB):c.2046T>C (p.Asp682=) rs760434842
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2055A>T (p.Ser685=) rs775174984
NM_024312.5(GNPTAB):c.2068dup (p.Gln690fs) rs1953061755
NM_024312.5(GNPTAB):c.2079G>A (p.Val693=)
NM_024312.5(GNPTAB):c.2082A>G (p.Lys694=)
NM_024312.5(GNPTAB):c.2087C>T (p.Pro696Leu) rs1383772676
NM_024312.5(GNPTAB):c.2088C>T (p.Pro696=)
NM_024312.5(GNPTAB):c.2097T>C (p.Asn699=)
NM_024312.5(GNPTAB):c.2098dup (p.Ile700fs) rs2137117072
NM_024312.5(GNPTAB):c.2099T>C (p.Ile700Thr) rs756585780
NM_024312.5(GNPTAB):c.2103A>C (p.Ser701=) rs1223998623
NM_024312.5(GNPTAB):c.2103A>G (p.Ser701=)
NM_024312.5(GNPTAB):c.2105T>C (p.Leu702Pro)
NM_024312.5(GNPTAB):c.2106C>G (p.Leu702=)
NM_024312.5(GNPTAB):c.2106C>T (p.Leu702=)
NM_024312.5(GNPTAB):c.2109T>C (p.Leu703=)
NM_024312.5(GNPTAB):c.2109T>G (p.Leu703=)
NM_024312.5(GNPTAB):c.2115del (p.Asp706fs)
NM_024312.5(GNPTAB):c.211C>T (p.Leu71=)
NM_024312.5(GNPTAB):c.2124G>A (p.Gln708=) rs1953060451
NM_024312.5(GNPTAB):c.2133C>T (p.Leu711=) rs976305877
NM_024312.5(GNPTAB):c.213G>A (p.Leu71=)
NM_024312.5(GNPTAB):c.2148G>A (p.Leu716=) rs374600127
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe) rs374600127
NM_024312.5(GNPTAB):c.2151A>G (p.Gln717=)
NM_024312.5(GNPTAB):c.2169C>T (p.Ile723=)
NM_024312.5(GNPTAB):c.2174T>A (p.Leu725Ter)
NM_024312.5(GNPTAB):c.2178A>G (p.Lys726=)
NM_024312.5(GNPTAB):c.2204del (p.Leu735fs)
NM_024312.5(GNPTAB):c.2208G>A (p.Leu736=) rs2137116860
NM_024312.5(GNPTAB):c.2213C>A (p.Ser738Ter) rs1298654156
NM_024312.5(GNPTAB):c.2214A>G (p.Ser738=)
NM_024312.5(GNPTAB):c.2216_2217del (p.Phe739fs) rs2137116846
NM_024312.5(GNPTAB):c.221C>T (p.Pro74Leu)
NM_024312.5(GNPTAB):c.2226C>T (p.Asn742=) rs1363485767
NM_024312.5(GNPTAB):c.2229A>G (p.Ser743=)
NM_024312.5(GNPTAB):c.222G>T (p.Pro74=)
NM_024312.5(GNPTAB):c.2243T>C (p.Ile748Thr) rs2137116813
NM_024312.5(GNPTAB):c.2246_2263dup (p.Ile754_Thr755insLysAsnGlnAlaIleIle)
NM_024312.5(GNPTAB):c.2250del (p.Gln751fs) rs1953058345
NM_024312.5(GNPTAB):c.2257A>T (p.Ile753Leu)
NM_024312.5(GNPTAB):c.2265A>C (p.Thr755=)
NM_024312.5(GNPTAB):c.2269_2273del (p.Glu757fs)
NM_024312.5(GNPTAB):c.227A>G (p.Asp76Gly)
NM_024312.5(GNPTAB):c.2280C>T (p.Asp760=)
NM_024312.5(GNPTAB):c.2285del (p.Leu762fs)
NM_024312.5(GNPTAB):c.2289G>C (p.Val763=) rs2137116700
NM_024312.5(GNPTAB):c.228C>A (p.Asp76Glu) rs540190619
NM_024312.5(GNPTAB):c.2295A>G (p.Pro765=)
NM_024312.5(GNPTAB):c.2303_2306del (p.Lys768fs) rs2137116678
NM_024312.5(GNPTAB):c.2305C>T (p.Gln769Ter)
NM_024312.5(GNPTAB):c.2307G>A (p.Gln769=)
NM_024312.5(GNPTAB):c.2308del (p.Val770fs) rs1953057183
NM_024312.5(GNPTAB):c.2313T>C (p.His771=) rs1441924926
NM_024312.5(GNPTAB):c.2322C>T (p.Ile774=)
NM_024312.5(GNPTAB):c.2334_2338del (p.Ser778fs) rs779474781
NM_024312.5(GNPTAB):c.2343G>A (p.Val781=) rs2137116586
NM_024312.5(GNPTAB):c.2350del (p.Arg784fs) rs2137116566
NM_024312.5(GNPTAB):c.2355G>A (p.Leu785=)
NM_024312.5(GNPTAB):c.2359A>G (p.Arg787Gly) rs200559243
NM_024312.5(GNPTAB):c.2359A>T (p.Arg787Trp)
NM_024312.5(GNPTAB):c.2363T>A (p.Leu788Ter)
NM_024312.5(GNPTAB):c.2370T>C (p.Phe790=) rs2137116534
NM_024312.5(GNPTAB):c.2379G>A (p.Val793=)
NM_024312.5(GNPTAB):c.2379G>C (p.Val793=)
NM_024312.5(GNPTAB):c.237C>T (p.Tyr79=)
NM_024312.5(GNPTAB):c.2381G>A (p.Ser794Asn) rs1566073760
NM_024312.5(GNPTAB):c.2385A>G (p.Val795=)
NM_024312.5(GNPTAB):c.2385A>T (p.Val795=)
NM_024312.5(GNPTAB):c.2388del (p.Lys796_Val797insTer)
NM_024312.5(GNPTAB):c.2403C>A (p.Asp801Glu)
NM_024312.5(GNPTAB):c.2404C>T (p.Gln802Ter) rs1310955639
NM_024312.5(GNPTAB):c.2404del (p.Gln802fs)
NM_024312.5(GNPTAB):c.240C>T (p.Thr80=)
NM_024312.5(GNPTAB):c.2421C>G (p.Pro807=)
NM_024312.5(GNPTAB):c.2421C>T (p.Pro807=) rs778908288
NM_024312.5(GNPTAB):c.2422C>T (p.Leu808=) rs2137116395
NM_024312.5(GNPTAB):c.2423del (p.Leu808fs) rs2137116390
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu) rs281864953
NM_024312.5(GNPTAB):c.2443A>C (p.Arg815=)
NM_024312.5(GNPTAB):c.2455del (p.Glu819fs) rs1594213713
NM_024312.5(GNPTAB):c.2463C>G (p.His821Gln)
NM_024312.5(GNPTAB):c.2463C>T (p.His821=)
NM_024312.5(GNPTAB):c.2467C>T (p.Gln823Ter)
NM_024312.5(GNPTAB):c.2469A>G (p.Gln823=) rs2137116328
NM_024312.5(GNPTAB):c.2475C>T (p.Thr825=)
NM_024312.5(GNPTAB):c.2496A>G (p.Lys832=) rs2137116288
NM_024312.5(GNPTAB):c.2497G>T (p.Glu833Ter)
NM_024312.5(GNPTAB):c.2498A>G (p.Glu833Gly) rs2137116285
NM_024312.5(GNPTAB):c.2498_2502del (p.Glu833fs) rs1953053436
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=) rs77410031
NM_024312.5(GNPTAB):c.249_267dup (p.Leu90delinsTrpHisArgSerTer)
NM_024312.5(GNPTAB):c.24A>G (p.Arg8=)
NM_024312.5(GNPTAB):c.2501A>G (p.Lys834Arg) rs1169845050
NM_024312.5(GNPTAB):c.2502del (p.Lys834fs)
NM_024312.5(GNPTAB):c.2505C>G (p.Pro835=)
NM_024312.5(GNPTAB):c.2515_2518del (p.Ile839fs) rs1953052904
NM_024312.5(GNPTAB):c.2523A>G (p.Pro841=)
NM_024312.5(GNPTAB):c.252C>A (p.Gly84=)
NM_024312.5(GNPTAB):c.2541_2544del (p.Glu849fs)
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2565A>G (p.Lys855=)
NM_024312.5(GNPTAB):c.2568A>G (p.Glu856=)
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2580T>C (p.Ser860=)
NM_024312.5(GNPTAB):c.2590dup (p.Glu864fs) rs2137116089
NM_024312.5(GNPTAB):c.25C>T (p.Gln9Ter) rs1871323854
NM_024312.5(GNPTAB):c.2613C>T (p.Gly871=) rs761030611
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs) rs752874974
NM_024312.5(GNPTAB):c.261T>G (p.Leu87=) rs2137150242
NM_024312.5(GNPTAB):c.264A>G (p.Glu88=) rs1868888774
NM_024312.5(GNPTAB):c.2654_2655del (p.Thr885fs) rs2137115961
NM_024312.5(GNPTAB):c.2655A>G (p.Thr885=) rs749436226
NM_024312.5(GNPTAB):c.2657A>T (p.Asp886Val)
NM_024312.5(GNPTAB):c.2657_2660del (p.Asp886fs) rs2137115943
NM_024312.5(GNPTAB):c.2666del (p.Leu889fs)
NM_024312.5(GNPTAB):c.2675del (p.Leu892fs) rs1555269488
NM_024312.5(GNPTAB):c.2679A>G (p.Pro893=)
NM_024312.5(GNPTAB):c.267A>C (p.Leu89=) rs760499437
NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter) rs779927550
NM_024312.5(GNPTAB):c.2684dup (p.Lys896fs)
NM_024312.5(GNPTAB):c.2686A>G (p.Lys896Glu)
NM_024312.5(GNPTAB):c.2691A>G (p.Lys897=) rs1953048985
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs) rs281864999
NM_024312.5(GNPTAB):c.2697T>C (p.Tyr899=)
NM_024312.5(GNPTAB):c.269del (p.Leu90fs) rs2137150220
NM_024312.5(GNPTAB):c.2701C>T (p.Gln901Ter)
NM_024312.5(GNPTAB):c.2703A>G (p.Gln901=)
NM_024312.5(GNPTAB):c.2706T>C (p.Asp902=)
NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del) rs774128798
NM_024312.5(GNPTAB):c.2712C>G (p.Leu904=)
NM_024312.5(GNPTAB):c.2715+10A>G
NM_024312.5(GNPTAB):c.2715+10A>T rs2137115780
NM_024312.5(GNPTAB):c.2715+11T>A
NM_024312.5(GNPTAB):c.2715+13C>G
NM_024312.5(GNPTAB):c.2715+16C>T
NM_024312.5(GNPTAB):c.2715+17C>G
NM_024312.5(GNPTAB):c.2715+19C>T
NM_024312.5(GNPTAB):c.2715+6dup
NM_024312.5(GNPTAB):c.2715+7A>G
NM_024312.5(GNPTAB):c.2716-17T>C
NM_024312.5(GNPTAB):c.2716-19T>C
NM_024312.5(GNPTAB):c.2716-20A>G
NM_024312.5(GNPTAB):c.2716-20A>T
NM_024312.5(GNPTAB):c.2725T>G (p.Ser909Ala)
NM_024312.5(GNPTAB):c.2727A>G (p.Ser909=)
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del) rs779351251
NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=) rs1953000723
NM_024312.5(GNPTAB):c.2737C>T (p.Gln913Ter)
NM_024312.5(GNPTAB):c.2737_2738del (p.Gln913fs) rs2137113019
NM_024312.5(GNPTAB):c.2740T>C (p.Leu914=) rs2137113011
NM_024312.5(GNPTAB):c.2742G>A (p.Leu914=)
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del) rs1277911354
NM_024312.5(GNPTAB):c.2748C>G (p.Tyr916Ter)
NM_024312.5(GNPTAB):c.2757_2758del (p.Asp919fs) rs757574720
NM_024312.5(GNPTAB):c.2781A>G (p.Leu927=) rs1952999348
NM_024312.5(GNPTAB):c.2790A>G (p.Thr930=) rs2137112918
NM_024312.5(GNPTAB):c.2799T>A (p.Asp933Glu) rs2137112904
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.2802C>T (p.Ser934=)
NM_024312.5(GNPTAB):c.280C>T (p.Gln94Ter) rs1391863896
NM_024312.5(GNPTAB):c.2811T>C (p.Tyr937=) rs780256662
NM_024312.5(GNPTAB):c.2825T>C (p.Leu942Pro) rs2137112862
NM_024312.5(GNPTAB):c.2829T>C (p.Asn943=)
NM_024312.5(GNPTAB):c.2830A>C (p.Ser944Arg)
NM_024312.5(GNPTAB):c.2847A>G (p.Thr949=) rs2137112828
NM_024312.5(GNPTAB):c.2849C>A (p.Ser950Ter)
NM_024312.5(GNPTAB):c.2851C>A (p.Arg951=)
NM_024312.5(GNPTAB):c.2864C>T (p.Ala955Val) rs138390866
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) rs281865004
NM_024312.5(GNPTAB):c.2868_2869del (p.Met957fs) rs2137112755
NM_024312.5(GNPTAB):c.2877C>T (p.His959=)
NM_024312.5(GNPTAB):c.2886C>A (p.Asp962Glu) rs368650569
NM_024312.5(GNPTAB):c.2887C>T (p.Arg963Trp)
NM_024312.5(GNPTAB):c.2892T>C (p.Ile964=) rs2137112688
NM_024312.5(GNPTAB):c.2901A>G (p.Gln967=)
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024312.5(GNPTAB):c.2907G>A (p.Leu969=)
NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter) rs1952995212
NM_024312.5(GNPTAB):c.2913T>C (p.Asp971=) rs374361252
NM_024312.5(GNPTAB):c.2915+14G>C
NM_024312.5(GNPTAB):c.2915+16G>T
NM_024312.5(GNPTAB):c.2915+1G>A rs1952995034
NM_024312.5(GNPTAB):c.2915+7C>G
NM_024312.5(GNPTAB):c.2915+7C>T rs1232180182
NM_024312.5(GNPTAB):c.2916-10A>G
NM_024312.5(GNPTAB):c.2916-12A>G
NM_024312.5(GNPTAB):c.2916-13T>C
NM_024312.5(GNPTAB):c.2916-15G>T
NM_024312.5(GNPTAB):c.2916-17A>C
NM_024312.5(GNPTAB):c.2916-7T>C rs2137112369
NM_024312.5(GNPTAB):c.2916-9T>C rs2137112372
NM_024312.5(GNPTAB):c.2923del (p.Glu975fs) rs2137112309
NM_024312.5(GNPTAB):c.2934C>T (p.Asp978=)
NM_024312.5(GNPTAB):c.2935_2939del (p.Lys979fs)
NM_024312.5(GNPTAB):c.2936_2943del (p.Lys979fs)
NM_024312.5(GNPTAB):c.2943A>G (p.Ser981=)
NM_024312.5(GNPTAB):c.2943A>T (p.Ser981=)
NM_024312.5(GNPTAB):c.2954T>C (p.Val985Ala)
NM_024312.5(GNPTAB):c.2955G>A (p.Val985=) rs2137112252
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His) rs776312538
NM_024312.5(GNPTAB):c.2958C>T (p.Arg986=) rs2137112233
NM_024312.5(GNPTAB):c.2961T>C (p.His987=)
NM_024312.5(GNPTAB):c.2963C>A (p.Ser988Tyr) rs2137112214
NM_024312.5(GNPTAB):c.2967G>A (p.Glu989=)
NM_024312.5(GNPTAB):c.2972T>G (p.Met991Arg)
NM_024312.5(GNPTAB):c.2972dup (p.Met991fs)
NM_024312.5(GNPTAB):c.2974C>T (p.Gln992Ter)
NM_024312.5(GNPTAB):c.2976G>A (p.Gln992=) rs1952989167
NM_024312.5(GNPTAB):c.2980_2983del (p.Ala994fs) rs1952989025
NM_024312.5(GNPTAB):c.2982C>T (p.Ala994=) rs2137112179
NM_024312.5(GNPTAB):c.2984T>C (p.Phe995Ser) rs1952988897
NM_024312.5(GNPTAB):c.2985C>T (p.Phe995=)
NM_024312.5(GNPTAB):c.2990A>G (p.Tyr997Cys) rs1594210905
NM_024312.5(GNPTAB):c.2991T>G (p.Tyr997Ter) rs1952988471
NM_024312.5(GNPTAB):c.29_32dup (p.Thr12fs) rs2137197827
NM_024312.5(GNPTAB):c.2T>C (p.Met1Thr)
NM_024312.5(GNPTAB):c.3014_3018dup (p.Pro1007fs)
NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter) rs1952987753
NM_024312.5(GNPTAB):c.3018G>C (p.Gln1006His)
NM_024312.5(GNPTAB):c.3024G>A (p.Leu1008=)
NM_024312.5(GNPTAB):c.3026A>C (p.Asn1009Thr) rs1952987566
NM_024312.5(GNPTAB):c.3033T>C (p.Ser1011=) rs2137112051
NM_024312.5(GNPTAB):c.3034C>T (p.Gln1012Ter) rs2137112043
NM_024312.5(GNPTAB):c.3036A>G (p.Gln1012=)
NM_024312.5(GNPTAB):c.303G>A (p.Glu101=)
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) rs281865007
NM_024312.5(GNPTAB):c.3057A>G (p.Thr1019=) rs2137111999
NM_024312.5(GNPTAB):c.3063A>G (p.Gln1021=)
NM_024312.5(GNPTAB):c.3066T>C (p.Ser1022=)
NM_024312.5(GNPTAB):c.306G>A (p.Glu102=)
NM_024312.5(GNPTAB):c.3078T>C (p.Ser1026=) rs950652897
NM_024312.5(GNPTAB):c.307G>A (p.Glu103Lys)
NM_024312.5(GNPTAB):c.3085_3086del (p.Glu1029fs)
NM_024312.5(GNPTAB):c.3090C>T (p.Ile1030=)
NM_024312.5(GNPTAB):c.3093A>T (p.Arg1031=)
NM_024312.5(GNPTAB):c.3094del (p.Thr1032fs) rs1594210760
NM_024312.5(GNPTAB):c.3096A>G (p.Thr1032=)
NM_024312.5(GNPTAB):c.3098T>C (p.Leu1033Pro) rs1594210754
NM_024312.5(GNPTAB):c.3098dup (p.Ala1034fs)
NM_024312.5(GNPTAB):c.30C>G (p.Thr10=) rs1871323193
NM_024312.5(GNPTAB):c.3100del (p.Ala1034fs) rs2137111897
NM_024312.5(GNPTAB):c.3105C>G (p.Thr1035=)
NM_024312.5(GNPTAB):c.3110T>C (p.Ile1037Thr)
NM_024312.5(GNPTAB):c.3115G>A (p.Glu1039Lys) rs201356176
NM_024312.5(GNPTAB):c.3134_3135+8delinsCGTTAAGTAGATT
NM_024312.5(GNPTAB):c.3135+10T>G
NM_024312.5(GNPTAB):c.3135+13C>G
NM_024312.5(GNPTAB):c.3135+13C>T
NM_024312.5(GNPTAB):c.3135+16A>G
NM_024312.5(GNPTAB):c.3135+17T>C
NM_024312.5(GNPTAB):c.3135+20T>G
NM_024312.5(GNPTAB):c.3135+7T>C rs2137111757
NM_024312.5(GNPTAB):c.3135+8A>T rs2137111755
NM_024312.5(GNPTAB):c.3136-16T>C
NM_024312.5(GNPTAB):c.3136-19T>A
NM_024312.5(GNPTAB):c.3136-1G>A rs1952971551
NM_024312.5(GNPTAB):c.3136-7T>C
NM_024312.5(GNPTAB):c.3139T>C (p.Leu1047=) rs760435223
NM_024312.5(GNPTAB):c.3147T>A (p.Gly1049=) rs2137110675
NM_024312.5(GNPTAB):c.3147T>C (p.Gly1049=) rs2137110675
NM_024312.5(GNPTAB):c.3148C>T (p.Leu1050=)
NM_024312.5(GNPTAB):c.3150G>A (p.Leu1050=) rs2137110662
NM_024312.5(GNPTAB):c.3153A>G (p.Glu1051=)
NM_024312.5(GNPTAB):c.3156C>T (p.His1052=) rs759155798
NM_024312.5(GNPTAB):c.3159dup (p.Leu1054fs)
NM_024312.5(GNPTAB):c.3166A>T (p.Asn1056Tyr)
NM_024312.5(GNPTAB):c.3175A>G (p.Lys1059Glu)
NM_024312.5(GNPTAB):c.3195C>T (p.Ile1065=)
NM_024312.5(GNPTAB):c.3198G>A (p.Thr1066=) rs1952969149
NM_024312.5(GNPTAB):c.3199C>T (p.Gln1067Ter)
NM_024312.5(GNPTAB):c.31dup (p.Tyr11fs)
NM_024312.5(GNPTAB):c.3204A>G (p.Leu1068=) rs1192805848
NM_024312.5(GNPTAB):c.3214CCA[1] (p.Pro1073del) rs1416737240
NM_024312.5(GNPTAB):c.323+11dup rs546617430
NM_024312.5(GNPTAB):c.323+12T>C
NM_024312.5(GNPTAB):c.323+13T>C
NM_024312.5(GNPTAB):c.323+14T>C
NM_024312.5(GNPTAB):c.323+15_323+16insG
NM_024312.5(GNPTAB):c.323+1G>A rs2137150067
NM_024312.5(GNPTAB):c.323+20del rs546617430
NM_024312.5(GNPTAB):c.324-16A>G
NM_024312.5(GNPTAB):c.324-18G>A
NM_024312.5(GNPTAB):c.324-18G>T
NM_024312.5(GNPTAB):c.324-18_324-17del rs765363852
NM_024312.5(GNPTAB):c.324-19T>A
NM_024312.5(GNPTAB):c.324-2A>G
NM_024312.5(GNPTAB):c.324-6T>G
NM_024312.5(GNPTAB):c.324-9T>G rs1011299062
NM_024312.5(GNPTAB):c.3247C>T (p.Leu1083=) rs2137110424
NM_024312.5(GNPTAB):c.3249+11dup
NM_024312.5(GNPTAB):c.3249+12G>A
NM_024312.5(GNPTAB):c.3249+14G>A
NM_024312.5(GNPTAB):c.3249+14G>T
NM_024312.5(GNPTAB):c.3249+15T>A
NM_024312.5(GNPTAB):c.3249+18C>T
NM_024312.5(GNPTAB):c.3249+20T>G
NM_024312.5(GNPTAB):c.3249+8_3249+9del
NM_024312.5(GNPTAB):c.3249+9A>G rs2137110409
NM_024312.5(GNPTAB):c.3250-10T>G rs2137107300
NM_024312.5(GNPTAB):c.3250-19T>C
NM_024312.5(GNPTAB):c.3250-20C>G
NM_024312.5(GNPTAB):c.3250-5C>T rs992142656
NM_024312.5(GNPTAB):c.3250-8T>C rs1952924076
NM_024312.5(GNPTAB):c.3254C>T (p.Pro1085Leu)
NM_024312.5(GNPTAB):c.3255G>A (p.Pro1085=) rs374468420
NM_024312.5(GNPTAB):c.3267T>C (p.Ser1089=) rs1952923408
NM_024312.5(GNPTAB):c.3270A>T (p.Leu1090=)
NM_024312.5(GNPTAB):c.3273_3280del (p.Val1091_Thr1092insTer)
NM_024312.5(GNPTAB):c.3276A>T (p.Thr1092=)
NM_024312.5(GNPTAB):c.3288A>G (p.Pro1096=)
NM_024312.5(GNPTAB):c.32A>G (p.Tyr11Cys)
NM_024312.5(GNPTAB):c.3300_3301del (p.Lys1100fs) rs1394425220
NM_024312.5(GNPTAB):c.3303C>T (p.Ile1101=)
NM_024312.5(GNPTAB):c.330C>A (p.Ile110=)
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) rs797044663
NM_024312.5(GNPTAB):c.3333T>C (p.Tyr1111=)
NM_024312.5(GNPTAB):c.3335+10A>G
NM_024312.5(GNPTAB):c.3335+11C>T
NM_024312.5(GNPTAB):c.3335+18A>G
NM_024312.5(GNPTAB):c.3335+9T>C
NM_024312.5(GNPTAB):c.3336-10T>C rs2137106770
NM_024312.5(GNPTAB):c.3336-1G>C rs397507562
NM_024312.5(GNPTAB):c.3336-4T>C
NM_024312.5(GNPTAB):c.3336-8A>G rs1171322895
NM_024312.5(GNPTAB):c.3345C>T (p.Ile1115=) rs2137106718
NM_024312.5(GNPTAB):c.3345del (p.Met1116fs) rs2137106725
NM_024312.5(GNPTAB):c.3364G>A (p.Ala1122Thr)
NM_024312.5(GNPTAB):c.3369del (p.Phe1123fs)
NM_024312.5(GNPTAB):c.3399G>A (p.Val1133=)
NM_024312.5(GNPTAB):c.3405C>T (p.Gly1135=) rs746803948
NM_024312.5(GNPTAB):c.3414T>C (p.Asp1138=)
NM_024312.5(GNPTAB):c.3415G>A (p.Asp1139Asn) rs758156963
NM_024312.5(GNPTAB):c.3422_3424del (p.Arg1141del) rs1952913803
NM_024312.5(GNPTAB):c.3428dup (p.Asn1143fs) rs281865017
NM_024312.5(GNPTAB):c.3429C>T (p.Asn1143=)
NM_024312.5(GNPTAB):c.3431C>G (p.Pro1144Arg)
NM_024312.5(GNPTAB):c.3432T>C (p.Pro1144=)
NM_024312.5(GNPTAB):c.3434+10T>G rs2137106524
NM_024312.5(GNPTAB):c.3434+15A>G
NM_024312.5(GNPTAB):c.3434+16T>C
NM_024312.5(GNPTAB):c.3434+17A>G
NM_024312.5(GNPTAB):c.3434+20A>C
NM_024312.5(GNPTAB):c.3434+6G>C
NM_024312.5(GNPTAB):c.3435-10G>C
NM_024312.5(GNPTAB):c.3435-11T>C
NM_024312.5(GNPTAB):c.3435-12C>G
NM_024312.5(GNPTAB):c.3435-14C>T
NM_024312.5(GNPTAB):c.3435-17G>A
NM_024312.5(GNPTAB):c.3438G>T (p.Lys1146Asn) rs1952854319
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.3444T>A (p.Val1148=)
NM_024312.5(GNPTAB):c.3444T>C (p.Val1148=) rs1005622047
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3450G>A (p.Leu1150=) rs1189919752
NM_024312.5(GNPTAB):c.3453T>C (p.Asn1151=)
NM_024312.5(GNPTAB):c.345A>C (p.Thr115=)
NM_024312.5(GNPTAB):c.3486G>A (p.Gln1162=)
NM_024312.5(GNPTAB):c.3489A>G (p.Thr1163=)
NM_024312.5(GNPTAB):c.3498T>C (p.Ala1166=)
NM_024312.5(GNPTAB):c.3501T>C (p.Val1167=) rs2137102067
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3507G>A (p.Arg1169=)
NM_024312.5(GNPTAB):c.3510C>T (p.Asp1170=)
NM_024312.5(GNPTAB):c.3515A>G (p.Tyr1172Cys)
NM_024312.5(GNPTAB):c.3515A>T (p.Tyr1172Phe) rs149859473
NM_024312.5(GNPTAB):c.3518A>G (p.Glu1173Gly)
NM_024312.5(GNPTAB):c.3529C>T (p.Pro1177Ser) rs1040259737
NM_024312.5(GNPTAB):c.3531C>G (p.Pro1177=)
NM_024312.5(GNPTAB):c.3540C>G (p.Ser1180=) rs777256692
NM_024312.5(GNPTAB):c.3540C>T (p.Ser1180=) rs777256692
NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter) rs1257678960
NM_024312.5(GNPTAB):c.3552del (p.Pro1185fs)
NM_024312.5(GNPTAB):c.3558A>G (p.Arg1186=) rs2137101924
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs) rs781689303
NM_024312.5(GNPTAB):c.3566G>A (p.Arg1189Gln)
NM_024312.5(GNPTAB):c.3569del (p.Asn1190fs)
NM_024312.5(GNPTAB):c.3572G>A (p.Arg1191His)
NM_024312.5(GNPTAB):c.357T>C (p.Thr119=)
NM_024312.5(GNPTAB):c.3586C>T (p.His1196Tyr)
NM_024312.5(GNPTAB):c.3587A>G (p.His1196Arg) rs1566067234
NM_024312.5(GNPTAB):c.3588T>C (p.His1196=) rs2137101849
NM_024312.5(GNPTAB):c.3595C>T (p.Gln1199Ter)
NM_024312.5(GNPTAB):c.3597G>A (p.Gln1199=) rs766408752
NM_024312.5(GNPTAB):c.3598G>T (p.Glu1200Ter)
NM_024312.5(GNPTAB):c.3602+10C>T rs187120606
NM_024312.5(GNPTAB):c.3602+12T>G
NM_024312.5(GNPTAB):c.3602+15T>A
NM_024312.5(GNPTAB):c.3602+15T>C
NM_024312.5(GNPTAB):c.3602+18A>G
NM_024312.5(GNPTAB):c.3602+20A>G
NM_024312.5(GNPTAB):c.3602+2T>A rs1952850476
NM_024312.5(GNPTAB):c.3603-12CT[2]
NM_024312.5(GNPTAB):c.3603-12_3603-10del rs2137097855
NM_024312.5(GNPTAB):c.3603-16T>G
NM_024312.5(GNPTAB):c.3603-18T>C
NM_024312.5(GNPTAB):c.3603-19C>G
NM_024312.5(GNPTAB):c.3603-1G>A rs35576380
NM_024312.5(GNPTAB):c.3603-20G>T
NM_024312.5(GNPTAB):c.3603-5C>A
NM_024312.5(GNPTAB):c.3603-5C>T
NM_024312.5(GNPTAB):c.3603-7T>C
NM_024312.5(GNPTAB):c.3603-9T>G
NM_024312.5(GNPTAB):c.3606G>A (p.Arg1202=) rs2137097836
NM_024312.5(GNPTAB):c.3612T>C (p.Tyr1204=) rs1457465597
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.3614G>A (p.Arg1205Gln)
NM_024312.5(GNPTAB):c.3615A>T (p.Arg1205=) rs2137097820
NM_024312.5(GNPTAB):c.3621del (p.Lys1207fs)
NM_024312.5(GNPTAB):c.3636C>A (p.Thr1212=)
NM_024312.5(GNPTAB):c.3636C>T (p.Thr1212=) rs751562008
NM_024312.5(GNPTAB):c.3639T>C (p.His1213=)
NM_024312.5(GNPTAB):c.3641_3646del (p.Cys1214_Val1215del)
NM_024312.5(GNPTAB):c.365+11T>G
NM_024312.5(GNPTAB):c.365+13A>G
NM_024312.5(GNPTAB):c.365+19T>C
NM_024312.5(GNPTAB):c.3654A>G (p.Thr1218=)
NM_024312.5(GNPTAB):c.3658A>G (p.Ile1220Val) rs2137097771
NM_024312.5(GNPTAB):c.366-12G>A
NM_024312.5(GNPTAB):c.366-12G>T
NM_024312.5(GNPTAB):c.366-19T>C
NM_024312.5(GNPTAB):c.366-20A>C
NM_024312.5(GNPTAB):c.366-8C>G rs2137144852
NM_024312.5(GNPTAB):c.3664T>A (p.Phe1222Ile) rs1952778790
NM_024312.5(GNPTAB):c.3666T>C (p.Phe1222=)
NM_024312.5(GNPTAB):c.3678_3680del (p.Phe1228del)
NM_024312.5(GNPTAB):c.3690G>A (p.Glu1230=)
NM_024312.5(GNPTAB):c.3693+10AT[2]
NM_024312.5(GNPTAB):c.3693+14A>C
NM_024312.5(GNPTAB):c.3693+17T>A
NM_024312.5(GNPTAB):c.3693+17T>C
NM_024312.5(GNPTAB):c.3693+17_3693+20del
NM_024312.5(GNPTAB):c.3693+18T>C
NM_024312.5(GNPTAB):c.3693+3_3693+6del rs758540278
NM_024312.5(GNPTAB):c.3693+8T>C
NM_024312.5(GNPTAB):c.3693+9del rs750658234
NM_024312.5(GNPTAB):c.3694-14C>T
NM_024312.5(GNPTAB):c.3694-17T>G
NM_024312.5(GNPTAB):c.3694-7C>A rs760239161
NM_024312.5(GNPTAB):c.36C>A (p.Thr12=) rs2137197796
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg) rs556318081
NM_024312.5(GNPTAB):c.3711G>T (p.Arg1237=)
NM_024312.5(GNPTAB):c.3715A>G (p.Ile1239Val)
NM_024312.5(GNPTAB):c.3733A>T (p.Ile1245Leu) rs774971931
NM_024312.5(GNPTAB):c.3747T>C (p.Ala1249=) rs2137095758
NM_024312.5(GNPTAB):c.3762C>A (p.Ile1254=)
NM_024312.5(GNPTAB):c.3765A>G (p.Arg1255=) rs1264177273
NM_024312.5(GNPTAB):c.381G>A (p.Glu127=) rs1185319004
NM_024312.5(GNPTAB):c.39C>T (p.Cys13=) rs1555277081
NM_024312.5(GNPTAB):c.3G>C (p.Met1Ile) rs752247255
NM_024312.5(GNPTAB):c.402T>C (p.Ile134=)
NM_024312.5(GNPTAB):c.405G>A (p.Lys135=)
NM_024312.5(GNPTAB):c.411A>G (p.Pro137=)
NM_024312.5(GNPTAB):c.420C>G (p.Val140=) rs746886323
NM_024312.5(GNPTAB):c.423G>T (p.Leu141=)
NM_024312.5(GNPTAB):c.426C>T (p.Asp142=) rs2137144705
NM_024312.5(GNPTAB):c.429A>C (p.Pro143=) rs150750965
NM_024312.5(GNPTAB):c.42G>A (p.Leu14=)
NM_024312.5(GNPTAB):c.441C>A (p.Ala147=)
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.445A>G (p.Ile149Val) rs141222937
NM_024312.5(GNPTAB):c.447C>T (p.Ile149=)
NM_024312.5(GNPTAB):c.451C>T (p.Leu151=)
NM_024312.5(GNPTAB):c.457G>A (p.Asp153Asn) rs886048853
NM_024312.5(GNPTAB):c.462G>A (p.Leu154=) rs2137144593
NM_024312.5(GNPTAB):c.462G>C (p.Leu154=)
NM_024312.5(GNPTAB):c.465A>G (p.Pro155=) rs1388923497
NM_024312.5(GNPTAB):c.480T>C (p.Ser160=)
NM_024312.5(GNPTAB):c.484del (p.His162fs)
NM_024312.5(GNPTAB):c.492C>T (p.Ala164=) rs1292417678
NM_024312.5(GNPTAB):c.4C>T (p.Leu2=) rs2137197900
NM_024312.5(GNPTAB):c.507T>C (p.Asn169=)
NM_024312.5(GNPTAB):c.516A>G (p.Lys172=)
NM_024312.5(GNPTAB):c.519A>C (p.Pro173=)
NM_024312.5(GNPTAB):c.51G>A (p.Arg17=) rs2137197754
NM_024312.5(GNPTAB):c.524dup (p.Asn175fs)
NM_024312.5(GNPTAB):c.525C>T (p.Asn175=) rs2137144412
NM_024312.5(GNPTAB):c.527C>T (p.Pro176Leu)
NM_024312.5(GNPTAB):c.543A>C (p.Ser181=)
NM_024312.5(GNPTAB):c.543A>T (p.Ser181=) rs2137144351
NM_024312.5(GNPTAB):c.560G>A (p.Ser187Asn)
NM_024312.5(GNPTAB):c.569A>G (p.Asp190Gly)
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.571+14A>G
NM_024312.5(GNPTAB):c.571+15T>A
NM_024312.5(GNPTAB):c.571+15T>C
NM_024312.5(GNPTAB):c.571+18A>G
NM_024312.5(GNPTAB):c.571+1G>A rs1412230289
NM_024312.5(GNPTAB):c.571+3A>C rs281864960
NM_024312.5(GNPTAB):c.571+7T>C rs2137144268
NM_024312.5(GNPTAB):c.571+8C>G
NM_024312.5(GNPTAB):c.571+9T>G
NM_024312.5(GNPTAB):c.572-11C>T
NM_024312.5(GNPTAB):c.57G>A (p.Gly19=)
NM_024312.5(GNPTAB):c.582C>T (p.Ala194=)
NM_024312.5(GNPTAB):c.606T>C (p.Asn202=)
NM_024312.5(GNPTAB):c.60C>G (p.Leu20=)
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.621A>G (p.Val207=)
NM_024312.5(GNPTAB):c.636+1G>A rs746175107
NM_024312.5(GNPTAB):c.636+3A>G
NM_024312.5(GNPTAB):c.636+4T>C rs1306693913
NM_024312.5(GNPTAB):c.637-13C>T
NM_024312.5(GNPTAB):c.637-14T>C
NM_024312.5(GNPTAB):c.637-19G>A
NM_024312.5(GNPTAB):c.637-1G>A rs281864962
NM_024312.5(GNPTAB):c.637-1del
NM_024312.5(GNPTAB):c.637-20T>C
NM_024312.5(GNPTAB):c.637-4T>G rs1384326817
NM_024312.5(GNPTAB):c.637-5T>G
NM_024312.5(GNPTAB):c.637-6_637-2del rs2137137152
NM_024312.5(GNPTAB):c.637-7A>T
NM_024312.5(GNPTAB):c.63C>T (p.Tyr21=) rs1193501128
NM_024312.5(GNPTAB):c.642A>T (p.Thr214=)
NM_024312.5(GNPTAB):c.645T>C (p.Asp215=) rs372035397
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.653T>C (p.Val218Ala) rs1953322163
NM_024312.5(GNPTAB):c.654C>T (p.Val218=) rs764176988
NM_024312.5(GNPTAB):c.666G>A (p.Val222=) rs1326320320
NM_024312.5(GNPTAB):c.684T>C (p.Ala228=) rs2137137039
NM_024312.5(GNPTAB):c.690G>C (p.Leu230=) rs370696342
NM_024312.5(GNPTAB):c.699T>C (p.Phe233=) rs1594229405
NM_024312.5(GNPTAB):c.6G>C (p.Leu2=) rs755520570
NM_024312.5(GNPTAB):c.718A>G (p.Thr240Ala) rs2137136978
NM_024312.5(GNPTAB):c.723T>C (p.Asn241=)
NM_024312.5(GNPTAB):c.726A>G (p.Gln242=) rs2137136961
NM_024312.5(GNPTAB):c.728del (p.Leu243fs)
NM_024312.5(GNPTAB):c.729A>G (p.Leu243=)
NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) rs398124400
NM_024312.5(GNPTAB):c.735A>C (p.Thr245=) rs369694436
NM_024312.5(GNPTAB):c.739T>C (p.Leu247=)
NM_024312.5(GNPTAB):c.73T>C (p.Leu25=)
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024312.5(GNPTAB):c.756C>G (p.Ser252=)
NM_024312.5(GNPTAB):c.758C>A (p.Ser253Tyr)
NM_024312.5(GNPTAB):c.759T>C (p.Ser253=)
NM_024312.5(GNPTAB):c.766A>T (p.Lys256Ter)
NM_024312.5(GNPTAB):c.769C>T (p.Leu257=)
NM_024312.5(GNPTAB):c.771+17T>C
NM_024312.5(GNPTAB):c.771+18A>C
NM_024312.5(GNPTAB):c.771+18A>G
NM_024312.5(GNPTAB):c.771+19G>A
NM_024312.5(GNPTAB):c.771+7A>C rs375495503
NM_024312.5(GNPTAB):c.771+7A>G
NM_024312.5(GNPTAB):c.771+8C>G rs1388947509
NM_024312.5(GNPTAB):c.771+8C>T
NM_024312.5(GNPTAB):c.771+9A>G rs1344003851
NM_024312.5(GNPTAB):c.772-15C>T
NM_024312.5(GNPTAB):c.772-17C>G
NM_024312.5(GNPTAB):c.772-18C>T
NM_024312.5(GNPTAB):c.772-1G>C rs2137125146
NM_024312.5(GNPTAB):c.772-1G>T
NM_024312.5(GNPTAB):c.772-2_786del
NM_024312.5(GNPTAB):c.772-4A>T
NM_024312.5(GNPTAB):c.772-5G>A rs2137125155
NM_024312.5(GNPTAB):c.772-7T>A
NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter) rs1566078120
NM_024312.5(GNPTAB):c.780_895delinsTTTTTATTATGGGAT (p.Leu260fs)
NM_024312.5(GNPTAB):c.796G>A (p.Val266Ile)
NM_024312.5(GNPTAB):c.798A>G (p.Val266=)
NM_024312.5(GNPTAB):c.800C>T (p.Ala267Val)
NM_024312.5(GNPTAB):c.808A>G (p.Lys270Glu)
NM_024312.5(GNPTAB):c.810A>G (p.Lys270=) rs1262918576
NM_024312.5(GNPTAB):c.81C>G (p.Val27=) rs1594269890
NM_024312.5(GNPTAB):c.81C>T (p.Val27=)
NM_024312.5(GNPTAB):c.822C>T (p.Pro274=)
NM_024312.5(GNPTAB):c.828T>C (p.Asp276=) rs2137125041
NM_024312.5(GNPTAB):c.831del (p.Gln278fs)
NM_024312.5(GNPTAB):c.833A>G (p.Gln278Arg)
NM_024312.5(GNPTAB):c.835G>T (p.Glu279Ter)
NM_024312.5(GNPTAB):c.839del (p.Glu279_Leu280insTer)
NM_024312.5(GNPTAB):c.846G>A (p.Lys282=)
NM_024312.5(GNPTAB):c.84T>G (p.Val28=) rs2137197666
NM_024312.5(GNPTAB):c.850del (p.Thr284fs) rs34517004
NM_024312.5(GNPTAB):c.862A>G (p.Met288Val)
NM_024312.5(GNPTAB):c.867C>G (p.Thr289=)
NM_024312.5(GNPTAB):c.871G>A (p.Asp291Asn)
NM_024312.5(GNPTAB):c.876A>G (p.Gly292=) rs2137124908
NM_024312.5(GNPTAB):c.879A>G (p.Lys293=) rs938200881
NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter) rs1953165554
NM_024312.5(GNPTAB):c.882A>G (p.Glu294=)
NM_024312.5(GNPTAB):c.885G>A (p.Leu295=) rs563962621
NM_024312.5(GNPTAB):c.885G>T (p.Leu295=) rs563962621
NM_024312.5(GNPTAB):c.888del (p.Thr296_Ile297insTer)
NM_024312.5(GNPTAB):c.88_89del (p.Thr30fs) rs753382639
NM_024312.5(GNPTAB):c.890dup (p.Ser298fs) rs1953165224
NM_024312.5(GNPTAB):c.900A>G (p.Ala300=) rs375112988
NM_024312.5(GNPTAB):c.900A>T (p.Ala300=)
NM_024312.5(GNPTAB):c.905_908del (p.Leu302fs)
NM_024312.5(GNPTAB):c.909A>C (p.Leu303Phe)
NM_024312.5(GNPTAB):c.90C>A (p.Thr30=)
NM_024312.5(GNPTAB):c.90C>T (p.Thr30=) rs1566105891
NM_024312.5(GNPTAB):c.924C>A (p.Ala308=)
NM_024312.5(GNPTAB):c.933+10G>A rs2137124749
NM_024312.5(GNPTAB):c.933+13C>T
NM_024312.5(GNPTAB):c.933+14A>G
NM_024312.5(GNPTAB):c.933+17A>C
NM_024312.5(GNPTAB):c.933+19C>A rs553329292
NM_024312.5(GNPTAB):c.933+19C>G
NM_024312.5(GNPTAB):c.933+19del
NM_024312.5(GNPTAB):c.933+1G>A
NM_024312.5(GNPTAB):c.933+1G>T rs1327876395
NM_024312.5(GNPTAB):c.933+7G>C rs757302795
NM_024312.5(GNPTAB):c.933+9T>C
NM_024312.5(GNPTAB):c.934-10dup rs2137124351
NM_024312.5(GNPTAB):c.934-20A>G
NM_024312.5(GNPTAB):c.934-8T>C rs2137124353
NM_024312.5(GNPTAB):c.93C>T (p.Ile31=) rs373020895
NM_024312.5(GNPTAB):c.945T>C (p.Asp315=)
NM_024312.5(GNPTAB):c.960C>T (p.Ala320=)
NM_024312.5(GNPTAB):c.974A>G (p.Asp325Gly) rs1953155939
NM_024312.5(GNPTAB):c.979G>A (p.Glu327Lys) rs779983477
NM_024312.5(GNPTAB):c.990G>A (p.Arg330=) rs368026099
NM_024312.5(GNPTAB):c.991del (p.Tyr331fs) rs1953155498
NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter) rs1953155445
NM_024312.5(GNPTAB):c.997T>C (p.Leu333=)
NM_024312.5(GNPTAB):c.99C>T (p.Ser33=) rs1276702655
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895
NM_024312.5(GNPTAB):c.9C>G (p.Phe3Leu)
NM_024312.5(GNPTAB):c.9C>T (p.Phe3=) rs573282230

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