NM_002633.3(PGM1):c.1464+14G>T
|
rs2269238
|
0.25474
|
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)
|
rs1126728
|
0.22903
|
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)
|
rs11208257
|
0.21027
|
NM_002633.3(PGM1):c.262A>G (p.Ile88Val)
|
rs855314
|
0.16859
|
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)
|
rs6676290
|
0.04986
|
NM_002633.3(PGM1):c.1145-7C>G
|
rs72922609
|
0.04055
|
NM_002633.3(PGM1):c.1280+7C>T
|
rs72922610
|
0.02818
|
NM_002633.3(PGM1):c.399T>C (p.Ile133=)
|
rs1126727
|
0.02624
|
NM_002633.3(PGM1):c.1500C>T (p.Ile500=)
|
rs61737416
|
0.01523
|
NM_002633.3(PGM1):c.1599+9C>T
|
rs115864084
|
0.01520
|
NM_002633.3(PGM1):c.247-5664G>A
|
rs77043134
|
0.01056
|
NM_002633.3(PGM1):c.573G>A (p.Ser191=)
|
rs112502842
|
0.00373
|
NM_002633.3(PGM1):c.18A>G (p.Thr6=)
|
rs111246749
|
0.00193
|
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)
|
rs150266274
|
0.00137
|
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)
|
rs147971989
|
0.00072
|
NM_002633.3(PGM1):c.247-5696A>T
|
rs200881174
|
0.00069
|
NM_002633.3(PGM1):c.1143C>T (p.Thr381=)
|
rs140035988
|
0.00045
|
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=)
|
rs140357031
|
0.00038
|
NM_002633.3(PGM1):c.987C>T (p.Arg329=)
|
rs79097301
|
0.00038
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00026
|
NM_002633.3(PGM1):c.734C>T (p.Ala245Val)
|
rs929270819
|
0.00025
|
NM_002633.3(PGM1):c.735G>A (p.Ala245=)
|
rs146028700
|
0.00023
|
NM_002633.3(PGM1):c.420A>G (p.Pro140=)
|
rs141007881
|
0.00021
|
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser)
|
rs367689770
|
0.00018
|
NM_002633.3(PGM1):c.1137C>T (p.Phe379=)
|
rs367648776
|
0.00016
|
NM_002633.3(PGM1):c.1515C>T (p.Ser505=)
|
rs61760978
|
0.00016
|
NM_002633.3(PGM1):c.1600-3C>T
|
rs375450688
|
0.00016
|
NM_002633.3(PGM1):c.900T>C (p.His300=)
|
rs145807501
|
0.00016
|
NM_002633.3(PGM1):c.529T>G (p.Leu177Val)
|
rs112293909
|
0.00014
|
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln)
|
rs370265239
|
0.00013
|
NM_002633.3(PGM1):c.1028+11C>A
|
rs541069522
|
0.00011
|
NM_002633.3(PGM1):c.1101C>T (p.Asp367=)
|
rs375432694
|
0.00010
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
NM_002633.3(PGM1):c.294T>A (p.Ala98=)
|
rs777459281
|
0.00010
|
NM_002633.3(PGM1):c.963G>A (p.Pro321=)
|
rs373693932
|
0.00010
|
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
|
rs150286818
|
0.00009
|
NM_002633.3(PGM1):c.1248T>C (p.His416=)
|
rs754762400
|
0.00006
|
NM_002633.3(PGM1):c.442T>G (p.Phe148Val)
|
rs755467080
|
0.00006
|
NM_002633.3(PGM1):c.975G>T (p.Gln325His)
|
rs574355735
|
0.00006
|
NM_002633.3(PGM1):c.1257G>A (p.Lys419=)
|
rs371451091
|
0.00005
|
NM_002633.3(PGM1):c.1023G>A (p.Leu341=)
|
rs750218135
|
0.00004
|
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val)
|
rs751121095
|
0.00004
|
NM_002633.3(PGM1):c.1160G>A (p.Arg387His)
|
rs548040301
|
0.00004
|
NM_002633.3(PGM1):c.1355G>A (p.Arg452His)
|
rs147763516
|
0.00004
|
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)
|
rs1287963513
|
0.00004
|
NM_002633.3(PGM1):c.57G>A (p.Thr19=)
|
rs764100819
|
0.00004
|
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln)
|
rs188291855
|
0.00004
|
NM_002633.3(PGM1):c.708C>G (p.Ile236Met)
|
rs200237046
|
0.00004
|
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)
|
rs587777404
|
0.00004
|
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)
|
rs777164338
|
0.00004
|
NM_002633.3(PGM1):c.99C>T (p.Ala33=)
|
rs373394538
|
0.00004
|
NM_002633.3(PGM1):c.1144+10A>G
|
rs886046482
|
0.00003
|
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val)
|
rs200065327
|
0.00003
|
NM_002633.3(PGM1):c.12C>A (p.Ile4=)
|
rs775862619
|
0.00003
|
NM_002633.3(PGM1):c.138C>A (p.Thr46=)
|
rs767357022
|
0.00003
|
NM_002633.3(PGM1):c.264C>T (p.Ile88=)
|
rs200946909
|
0.00003
|
NM_002633.3(PGM1):c.318C>G (p.Ile106Met)
|
rs781551165
|
0.00003
|
NM_002633.3(PGM1):c.64C>T (p.Leu22=)
|
rs1395771160
|
0.00003
|
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp)
|
rs577589562
|
0.00002
|
NM_002633.3(PGM1):c.1104G>A (p.Ala368=)
|
rs776558188
|
0.00002
|
NM_002633.3(PGM1):c.1170T>C (p.Asp390=)
|
rs779705334
|
0.00002
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
NM_002633.3(PGM1):c.254G>A (p.Arg85His)
|
rs200225686
|
0.00002
|
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn)
|
rs139241922
|
0.00002
|
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr)
|
rs748252747
|
0.00001
|
NM_002633.3(PGM1):c.1144+16G>A
|
rs755514698
|
0.00001
|
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val)
|
rs777570538
|
0.00001
|
NM_002633.3(PGM1):c.1476C>T (p.Leu492=)
|
rs1649899491
|
0.00001
|
NM_002633.3(PGM1):c.1485A>G (p.Thr495=)
|
rs1172911815
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)
|
rs397515423
|
0.00001
|
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln)
|
rs1453920894
|
0.00001
|
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly)
|
rs757573887
|
0.00001
|
NM_002633.3(PGM1):c.159G>A (p.Gln53=)
|
rs370087543
|
0.00001
|
NM_002633.3(PGM1):c.1614C>T (p.Pro538=)
|
rs775453982
|
0.00001
|
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys)
|
rs759782258
|
0.00001
|
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg)
|
rs377500536
|
0.00001
|
NM_002633.3(PGM1):c.327T>C (p.Ile109=)
|
rs770271653
|
0.00001
|
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser)
|
rs1213089649
|
0.00001
|
NM_002633.3(PGM1):c.425C>T (p.Ala142Val)
|
rs1276461747
|
0.00001
|
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter)
|
rs770066171
|
0.00001
|
NM_002633.3(PGM1):c.76G>A (p.Val26Met)
|
rs1300863085
|
0.00001
|
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)
|
rs1466885233
|
0.00001
|
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys)
|
rs778199808
|
0.00001
|
NM_002633.3(PGM1):c.986G>A (p.Arg329His)
|
rs747394265
|
0.00001
|
NC_000001.10:g.(?_64059160)_(64059425_?)dup
|
|
|
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)
|
rs1553121290
|
|
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
|
|
|
NM_002633.3(PGM1):c.1028+13A>G
|
|
|
NM_002633.3(PGM1):c.1028+18C>T
|
|
|
NM_002633.3(PGM1):c.1029-19T>C
|
|
|
NM_002633.3(PGM1):c.1029-8C>G
|
rs752232600
|
|
NM_002633.3(PGM1):c.1044A>C (p.Thr348=)
|
|
|
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
|
|
|
NM_002633.3(PGM1):c.105C>T (p.Tyr35=)
|
|
|
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)
|
rs773677629
|
|
NM_002633.3(PGM1):c.1065C>T (p.Thr355=)
|
rs773677629
|
|
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
|
|
|
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)
|
rs146477640
|
|
NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
|
|
|
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
|
|
|
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
|
|
|
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
|
rs1170935238
|
|
NM_002633.3(PGM1):c.108G>A (p.Ala36=)
|
|
|
NM_002633.3(PGM1):c.1091del (p.Asn364fs)
|
rs1557437034
|
|
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
|
|
|
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
|
|
|
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)
|
rs587777402
|
|
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
|
|
|
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
|
|
|
NM_002633.3(PGM1):c.1145-10C>T
|
|
|
NM_002633.3(PGM1):c.1145-11C>T
|
|
|
NM_002633.3(PGM1):c.1145-6C>G
|
|
|
NM_002633.3(PGM1):c.1145-6del
|
rs2100998326
|
|
NM_002633.3(PGM1):c.1145-9C>G
|
|
|
NM_002633.3(PGM1):c.1191C>A (p.Ala397=)
|
|
|
NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
|
|
|
NM_002633.3(PGM1):c.119del (p.Ile40fs)
|
|
|
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val)
|
rs760318393
|
|
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
|
|
|
NM_002633.3(PGM1):c.1206A>C (p.Leu402=)
|
rs2100998429
|
|
NM_002633.3(PGM1):c.1209C>A (p.Ala403=)
|
|
|
NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
|
|
|
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser)
|
rs754131603
|
|
NM_002633.3(PGM1):c.1233C>T (p.Asp411=)
|
|
|
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu)
|
rs567337429
|
|
NM_002633.3(PGM1):c.1239C>T (p.Leu413=)
|
|
|
NM_002633.3(PGM1):c.123G>A (p.Gln41=)
|
|
|
NM_002633.3(PGM1):c.1254A>G (p.Gln418=)
|
|
|
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn)
|
rs374207269
|
|
NM_002633.3(PGM1):c.1280+12C>T
|
|
|
NM_002633.3(PGM1):c.1280+22dup
|
|
|
NM_002633.3(PGM1):c.1281-14G>A
|
|
|
NM_002633.3(PGM1):c.1281-15C>T
|
|
|
NM_002633.3(PGM1):c.1281-17T>A
|
|
|
NM_002633.3(PGM1):c.1281-2A>G
|
rs1649810314
|
|
NM_002633.3(PGM1):c.1281-5T>C
|
|
|
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
|
|
|
NM_002633.3(PGM1):c.1293G>A (p.Glu431=)
|
|
|
NM_002633.3(PGM1):c.1299G>A (p.Val433=)
|
|
|
NM_002633.3(PGM1):c.129C>T (p.Ile43=)
|
|
|
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
|
|
|
NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
|
|
|
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
|
|
|
NM_002633.3(PGM1):c.1371G>A (p.Lys457=)
|
|
|
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
|
|
|
NM_002633.3(PGM1):c.1401T>A (p.Thr467=)
|
|
|
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr)
|
rs148979330
|
|
NM_002633.3(PGM1):c.1413C>T (p.Ala471=)
|
|
|
NM_002633.3(PGM1):c.1422T>C (p.Phe474=)
|
|
|
NM_002633.3(PGM1):c.1431C>T (p.Ser477=)
|
|
|
NM_002633.3(PGM1):c.1455A>G (p.Ser485=)
|
|
|
NM_002633.3(PGM1):c.1464+14G>A
|
rs2269238
|
|
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
|
|
|
NM_002633.3(PGM1):c.1464+15G>A
|
rs748510501
|
|
NM_002633.3(PGM1):c.1464+19G>C
|
|
|
NM_002633.3(PGM1):c.1464+9A>T
|
|
|
NM_002633.3(PGM1):c.1465-16_1465-15del
|
|
|
NM_002633.3(PGM1):c.1474del (p.Leu492fs)
|
rs1376645472
|
|
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln)
|
rs770023140
|
|
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
|
|
|
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
|
|
|
NM_002633.3(PGM1):c.1524G>T (p.Gly508=)
|
|
|
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
|
|
|
NM_002633.3(PGM1):c.1530C>T (p.Ala510=)
|
|
|
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
|
|
|
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
|
|
|
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln)
|
rs377179134
|
|
NM_002633.3(PGM1):c.156G>C (p.Arg52=)
|
|
|
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
|
|
|
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
|
rs1647935062
|
|
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
|
|
|
NM_002633.3(PGM1):c.1599+5C>T
|
|
|
NM_002633.3(PGM1):c.1599+6G>A
|
|
|
NM_002633.3(PGM1):c.1599+6G>T
|
|
|
NM_002633.3(PGM1):c.1600-13A>G
|
|
|
NM_002633.3(PGM1):c.1600-15C>G
|
|
|
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
|
|
|
NM_002633.3(PGM1):c.1668T>A (p.Thr556=)
|
|
|
NM_002633.3(PGM1):c.1668T>G (p.Thr556=)
|
rs752885355
|
|
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile)
|
rs1650066188
|
|
NM_002633.3(PGM1):c.168G>C (p.Thr56=)
|
|
|
NM_002633.3(PGM1):c.171G>A (p.Leu57=)
|
|
|
NM_002633.3(PGM1):c.180C>T (p.Gly60=)
|
|
|
NM_002633.3(PGM1):c.184G>C (p.Asp62His)
|
rs587777403
|
|
NM_002633.3(PGM1):c.199A>G (p.Met67Val)
|
rs561236041
|
|
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
|
|
|
NM_002633.3(PGM1):c.216G>C (p.Gln72His)
|
rs1280037054
|
|
NM_002633.3(PGM1):c.243C>T (p.Asn81=)
|
|
|
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)
|
rs199928376
|
|
NM_002633.3(PGM1):c.246+11C>T
|
|
|
NM_002633.3(PGM1):c.246+20_246+21delinsAA
|
|
|
NM_002633.3(PGM1):c.246+8A>G
|
|
|
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
|
|
|
NM_002633.3(PGM1):c.247-7C>T
|
rs1570493471
|
|
NM_002633.3(PGM1):c.249C>A (p.Ile83=)
|
rs140086116
|
|
NM_002633.3(PGM1):c.249C>T (p.Ile83=)
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rs140086116
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NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
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NM_002633.3(PGM1):c.261T>C (p.Val87=)
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NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
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NM_002633.3(PGM1):c.282C>G (p.Leu94=)
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NM_002633.3(PGM1):c.28_37del (p.Gln10fs)
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rs759220275
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NM_002633.3(PGM1):c.300C>G (p.Ser100=)
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NM_002633.3(PGM1):c.322G>A (p.Ala108Thr)
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rs1356647959
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NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
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NM_002633.3(PGM1):c.336C>T (p.Ile112=)
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NM_002633.3(PGM1):c.357C>T (p.Asn119=)
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NM_002633.3(PGM1):c.360A>G (p.Pro120=)
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NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
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NM_002633.3(PGM1):c.399T>A (p.Ile133=)
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NM_002633.3(PGM1):c.409+12G>C
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NM_002633.3(PGM1):c.409+6T>C
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rs2100982034
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NM_002633.3(PGM1):c.410-11T>C
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NM_002633.3(PGM1):c.410-13G>C
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NM_002633.3(PGM1):c.410-18T>C
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NM_002633.3(PGM1):c.414T>C (p.Pro138=)
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NM_002633.3(PGM1):c.414T>G (p.Pro138=)
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NM_002633.3(PGM1):c.42C>T (p.Asp14=)
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NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
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NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
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NM_002633.3(PGM1):c.48G>A (p.Lys16=)
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NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
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NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
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NM_002633.3(PGM1):c.51G>C (p.Pro17=)
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NM_002633.3(PGM1):c.540G>A (p.Lys180=)
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NM_002633.3(PGM1):c.556+3A>G
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NM_002633.3(PGM1):c.557-11del
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NM_002633.3(PGM1):c.557-5C>T
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rs2100983821
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NM_002633.3(PGM1):c.557-5del
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NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
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NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
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NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
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NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
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NM_002633.3(PGM1):c.60C>T (p.Ser20=)
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NM_002633.3(PGM1):c.618T>C (p.Ser206=)
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NM_002633.3(PGM1):c.648C>T (p.Asn216=)
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NM_002633.3(PGM1):c.661del (p.Arg221fs)
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rs587777405
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NM_002633.3(PGM1):c.666T>C (p.Ile222=)
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NM_002633.3(PGM1):c.682+20C>T
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NM_002633.3(PGM1):c.683-6A>G
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NM_002633.3(PGM1):c.723C>G (p.Leu241=)
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NM_002633.3(PGM1):c.723C>T (p.Leu241=)
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NM_002633.3(PGM1):c.729C>T (p.Ala243=)
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NM_002633.3(PGM1):c.741G>A (p.Ser247=)
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rs142222746
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NM_002633.3(PGM1):c.741G>C (p.Ser247=)
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rs142222746
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NM_002633.3(PGM1):c.753C>T (p.Cys251=)
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NM_002633.3(PGM1):c.759T>C (p.Pro253=)
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NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
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NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
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NM_002633.3(PGM1):c.801C>A (p.Thr267=)
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NM_002633.3(PGM1):c.816G>C (p.Leu272=)
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NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
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NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
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NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
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NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)
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NM_002633.3(PGM1):c.873+10A>G
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NM_002633.3(PGM1):c.873+5G>T
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NM_002633.3(PGM1):c.873+7A>T
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rs1176093923
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NM_002633.3(PGM1):c.874-5C>T
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NM_002633.3(PGM1):c.874-6C>A
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NM_002633.3(PGM1):c.874-7C>T
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rs2100988580
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NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
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NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
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rs1570463842
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NM_002633.3(PGM1):c.903G>A (p.Gly301=)
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NM_002633.3(PGM1):c.90G>A (p.Gln30=)
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NM_002633.3(PGM1):c.91A>G (p.Ser31Gly)
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rs2100947698
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NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
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NM_002633.3(PGM1):c.929_930del (p.Val310fs)
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rs2100988650
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NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
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NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
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NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
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NM_002633.3(PGM1):c.980G>T (p.Gly327Val)
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NM_002633.3(PGM1):c.981G>A (p.Gly327=)
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