ClinVar Miner

List of variants in gene GAA reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 431
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HGVS dbSNP
NM_000152.5(GAA):c.*139dup rs865903736
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.1005G>A (p.Gly335=) rs1598576696
NM_000152.5(GAA):c.1035A>C (p.Pro345=) rs942325926
NM_000152.5(GAA):c.1041C>T (p.Pro347=) rs1489442441
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940
NM_000152.5(GAA):c.1053G>A (p.Val351=) rs773063199
NM_000152.5(GAA):c.1053G>T (p.Val351=) rs773063199
NM_000152.5(GAA):c.1056G>A (p.Gln352=)
NM_000152.5(GAA):c.1059G>A (p.Gln353=) rs376146090
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
NM_000152.5(GAA):c.1068C>T (p.Asp356=) rs751215137
NM_000152.5(GAA):c.1071T>C (p.Val357=) rs1598576937
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1076-4G>T
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
NM_000152.5(GAA):c.108G>A (p.Leu36=)
NM_000152.5(GAA):c.1092G>A (p.Pro364=) rs777730774
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
NM_000152.5(GAA):c.1116C>T (p.His372=)
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
NM_000152.5(GAA):c.1140C>T (p.Ser380=) rs1214685237
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
NM_000152.5(GAA):c.1170C>T (p.Asn390=) rs757174980
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
NM_000152.5(GAA):c.1192C>T (p.Leu398=) rs369707231
NM_000152.5(GAA):c.1194+8G>T
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1195-5T>C
NM_000152.5(GAA):c.1195-9T>C
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196
NM_000152.5(GAA):c.1209C>T (p.Asn403=) rs751333479
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
NM_000152.5(GAA):c.1302C>T (p.Gly434=) rs752231775
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
NM_000152.5(GAA):c.1326+8C>A rs762988038
NM_000152.5(GAA):c.1326+8C>T
NM_000152.5(GAA):c.1327-5C>A
NM_000152.5(GAA):c.1327-8C>T rs1598579967
NM_000152.5(GAA):c.132C>T (p.Gly44=)
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1437+7C>G
NM_000152.5(GAA):c.1437+8G>A rs779194427
NM_000152.5(GAA):c.1438-10C>T rs1029231930
NM_000152.5(GAA):c.1438-7T>C
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1486C>T (p.Leu496=) rs1598581572
NM_000152.5(GAA):c.1488G>A (p.Leu496=) rs750777002
NM_000152.5(GAA):c.1491C>T (p.Ala497=) rs373993015
NM_000152.5(GAA):c.1500G>A (p.Glu500=) rs893313279
NM_000152.5(GAA):c.1518C>T (p.Phe506=) rs1464913441
NM_000152.5(GAA):c.1533C>G (p.Pro511=) rs1598581655
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
NM_000152.5(GAA):c.1551+10G>T
NM_000152.5(GAA):c.1551+7G>A
NM_000152.5(GAA):c.1551+7G>T
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-8T>C
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.159C>T (p.His53=)
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1636+10C>A
NM_000152.5(GAA):c.1636+15dup
NM_000152.5(GAA):c.1636+7T>C rs1041767114
NM_000152.5(GAA):c.1636+8C>T rs572293131
NM_000152.5(GAA):c.1636+9G>A
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1637-9C>T
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
NM_000152.5(GAA):c.1662G>A (p.Ala554=) rs775954786
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
NM_000152.5(GAA):c.1704C>T (p.His568=)
NM_000152.5(GAA):c.1710C>T (p.Asn570=)
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
NM_000152.5(GAA):c.1716C>T (p.His572=)
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1754+21C>T rs373387713
NM_000152.5(GAA):c.1754+9C>G
NM_000152.5(GAA):c.1755-7A>G rs781539108
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
NM_000152.5(GAA):c.1800C>T (p.Arg600=) rs1598584611
NM_000152.5(GAA):c.1803G>A (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1803G>T (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1806C>A (p.Thr602=) rs1598584645
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
NM_000152.5(GAA):c.1818C>T (p.His606=) rs374368644
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.183C>T (p.Ser61=) rs17853995
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1842G>C (p.Thr614=)
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.5(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972
NM_000152.5(GAA):c.1872C>T (p.Leu624=) rs373103422
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.1888+8C>T rs772887194
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1893C>T (p.Ile631=) rs1598585395
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1905C>T (p.Asn635=)
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
NM_000152.5(GAA):c.1914G>A (p.Gly638=) rs1305357140
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1926C>T (p.Val642=)
NM_000152.5(GAA):c.1929G>A (p.Gly643=) rs371096565
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1959C>T (p.Thr653=)
NM_000152.5(GAA):c.1977G>A (p.Val659=) rs751873094
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
NM_000152.5(GAA):c.1989G>A (p.Gln663=) rs1189531783
NM_000152.5(GAA):c.2025C>T (p.Asn675=) rs143951130
NM_000152.5(GAA):c.2040+11_2040+18dup
NM_000152.5(GAA):c.2040+16C>T rs573522544
NM_000152.5(GAA):c.2040+8G>A
NM_000152.5(GAA):c.2040+8G>C rs779647712
NM_000152.5(GAA):c.2041-4G>A
NM_000152.5(GAA):c.2041-7C>T
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
NM_000152.5(GAA):c.204C>T (p.Ala68=)
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) rs750214208
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
NM_000152.5(GAA):c.2097C>T (p.Leu699=) rs1381174968
NM_000152.5(GAA):c.2100C>T (p.Thr700=) rs199571088
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
NM_000152.5(GAA):c.2124C>T (p.His708=)
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
NM_000152.5(GAA):c.2142C>T (p.His714=)
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2154C>G (p.Val718=) rs1800311
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
NM_000152.5(GAA):c.2166C>T (p.Thr722=) rs759452172
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
NM_000152.5(GAA):c.2189+10C>T
NM_000152.5(GAA):c.2189+9C>G
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2196C>A (p.Pro732=) rs915890435
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
NM_000152.5(GAA):c.2274C>T (p.Ala758=) rs150431943
NM_000152.5(GAA):c.2283C>T (p.Ala761=) rs774769974
NM_000152.5(GAA):c.2289G>A (p.Val763=)
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.231A>G (p.Ala77=)
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2332-5T>G rs1276069832
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
NM_000152.5(GAA):c.240A>G (p.Thr80=) rs778124725
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2415G>T (p.Val805=)
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938
NM_000152.5(GAA):c.2424G>A (p.Pro808=) rs763272351
NM_000152.5(GAA):c.2427C>G (p.Ala809=) rs766325117
NM_000152.5(GAA):c.2430C>G (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997
NM_000152.5(GAA):c.2451C>T (p.His817=)
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
NM_000152.5(GAA):c.246C>T (p.Cys82=) rs749584846
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2481+7G>A
NM_000152.5(GAA):c.2482-8C>A
NM_000152.5(GAA):c.2482-8C>G
NM_000152.5(GAA):c.2482-8C>T
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
NM_000152.5(GAA):c.252C>A (p.Val84=)
NM_000152.5(GAA):c.252C>T (p.Val84=) rs775079960
NM_000152.5(GAA):c.2544C>T (p.Thr848=) rs776487269
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
NM_000152.5(GAA):c.2604G>A (p.Leu868=)
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
NM_000152.5(GAA):c.2646+8C>A
NM_000152.5(GAA):c.2646+8del
NM_000152.5(GAA):c.2646+9T>C
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2647-6G>T rs201525743
NM_000152.5(GAA):c.2647-71G>C
NM_000152.5(GAA):c.2647-8C>G
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.264C>T (p.Ser88=)
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2655C>T (p.Ile885=) rs774840779
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
NM_000152.5(GAA):c.2700G>A (p.Gln900=)
NM_000152.5(GAA):c.270C>T (p.Phe90=) rs768078324
NM_000152.5(GAA):c.2712G>A (p.Val904=) rs886043848
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2739C>T (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2751C>T (p.Leu917=) rs146507838
NM_000152.5(GAA):c.2754C>A (p.Ser918=) rs1598594382
NM_000152.5(GAA):c.2757C>T (p.Asn919=) rs766916186
NM_000152.5(GAA):c.2769C>A (p.Val923=) rs1272166322
NM_000152.5(GAA):c.2769C>T (p.Val923=)
NM_000152.5(GAA):c.276C>T (p.Cys92=)
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) rs142481170
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
NM_000152.5(GAA):c.2799+10C>G rs1482012226
NM_000152.5(GAA):c.2800-10T>C
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.2820G>A (p.Ser940=) rs992579033
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178
NM_000152.5(GAA):c.300G>A (p.Gln100=)
NM_000152.5(GAA):c.303A>G (p.Glu101=)
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.5(GAA):c.393C>G (p.Pro131=) rs769276948
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
NM_000152.5(GAA):c.423G>T (p.Leu141=)
NM_000152.5(GAA):c.42C>G (p.Ala14=) rs141377453
NM_000152.5(GAA):c.42C>T (p.Ala14=)
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.456G>C (p.Leu152=)
NM_000152.5(GAA):c.471C>T (p.Pro157=)
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.5(GAA):c.525T>C (p.Thr175=)
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.543C>T (p.Phe181=)
NM_000152.5(GAA):c.546+2_546+6dup
NM_000152.5(GAA):c.546+4G>C
NM_000152.5(GAA):c.546+7A>C rs1329049814
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000152.5(GAA):c.573C>T (p.Tyr191=) rs376229714
NM_000152.5(GAA):c.583T>C (p.Leu195=)
NM_000152.5(GAA):c.594G>A (p.Pro198=)
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.603C>T (p.His201=)
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808
NM_000152.5(GAA):c.618C>G (p.Ser206=)
NM_000152.5(GAA):c.618C>T (p.Ser206=) rs146292898
NM_000152.5(GAA):c.621A>G (p.Pro207=)
NM_000152.5(GAA):c.624C>G (p.Leu208=)
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
NM_000152.5(GAA):c.630C>T (p.Ser210=)
NM_000152.5(GAA):c.654C>T (p.Phe218=) rs762830719
NM_000152.5(GAA):c.663C>A (p.Ile221=)
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) rs2289537
NM_000152.5(GAA):c.681C>T (p.Asp227=)
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.692+17G>C rs199559553
NM_000152.5(GAA):c.692+9T>C rs367661167
NM_000152.5(GAA):c.693-10T>C
NM_000152.5(GAA):c.693-4G>A rs200088236
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.693-5C>T rs763538104
NM_000152.5(GAA):c.693-5del rs1555599563
NM_000152.5(GAA):c.69C>T (p.Thr23=) rs746351336
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511
NM_000152.5(GAA):c.708G>A (p.Val236=)
NM_000152.5(GAA):c.708G>T (p.Val236=)
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.715C>T (p.Leu239=) rs778882374
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.726G>C (p.Ala242=)
NM_000152.5(GAA):c.72T>C (p.Ala24=)
NM_000152.5(GAA):c.747C>T (p.Ser249=) rs1555599614
NM_000152.5(GAA):c.750C>T (p.Thr250=)
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.753G>A (p.Ser251=)
NM_000152.5(GAA):c.753G>T (p.Ser251=)
NM_000152.5(GAA):c.754C>T (p.Leu252=) rs1598575013
NM_000152.5(GAA):c.75A>G (p.Ala25=)
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093
NM_000152.5(GAA):c.765G>A (p.Gln255=) rs1450999199
NM_000152.5(GAA):c.780C>T (p.Leu260=) rs372614893
NM_000152.5(GAA):c.783C>A (p.Ala261=)
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178
NM_000152.5(GAA):c.78C>T (p.Leu26=)
NM_000152.5(GAA):c.792C>G (p.Leu264=)
NM_000152.5(GAA):c.798C>G (p.Pro266=) rs1598575210
NM_000152.5(GAA):c.816C>T (p.Ser272=)
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.5(GAA):c.843G>A (p.Arg281=)
NM_000152.5(GAA):c.849T>C (p.Leu283=)
NM_000152.5(GAA):c.84G>A (p.Gly28=)
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.855C>A (p.Pro285=) rs754080080
NM_000152.5(GAA):c.858+10C>A rs758283022
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.859-4C>T
NM_000152.5(GAA):c.859-5C>T
NM_000152.5(GAA):c.859-9A>G
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.867G>A (p.Ala289=) rs534515557
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519
NM_000152.5(GAA):c.879G>A (p.Gly293=)
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304
NM_000152.5(GAA):c.906G>A (p.Glu302=) rs1488323868
NM_000152.5(GAA):c.909C>T (p.Asp303=) rs752724918
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.91C>T (p.Leu31=)
NM_000152.5(GAA):c.921A>C (p.Ala307=)
NM_000152.5(GAA):c.924C>T (p.His308=) rs370105640
NM_000152.5(GAA):c.942C>T (p.Asn314=)
NM_000152.5(GAA):c.955+14C>A rs756921041
NM_000152.5(GAA):c.966G>A (p.Leu322=) rs1197362128
NM_000152.5(GAA):c.96C>G (p.Leu32=) rs1598569164
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243
NM_000152.5(GAA):c.972G>C (p.Pro324=)
NM_000152.5(GAA):c.993G>A (p.Arg331=) rs749831587
NM_000152.5(GAA):c.996G>A (p.Ser332=)
NM_000152.5(GAA):c.999A>G (p.Thr333=) rs1598576668

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