NM_017739.4(POMGNT1):c.235+33T>G
|
rs41309197
|
0.04222
|
NM_017739.4(POMGNT1):c.-11G>A
|
rs80107141
|
0.00484
|
NM_017739.4(POMGNT1):c.120+13C>T
|
rs12737140
|
0.00459
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_017739.4(POMGNT1):c.236-13T>C
|
rs150578902
|
0.00196
|
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)
|
rs139701867
|
0.00021
|
NM_017739.4(POMGNT1):c.120+3A>G
|
rs543271070
|
0.00019
|
NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr)
|
rs201637813
|
0.00013
|
NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr)
|
rs186444670
|
0.00011
|
NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln)
|
rs200042607
|
0.00007
|
NM_017739.4(POMGNT1):c.188G>A (p.Arg63Gln)
|
rs141421141
|
0.00006
|
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)
|
rs377724143
|
0.00006
|
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=)
|
rs138950267
|
0.00005
|
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys)
|
rs201361648
|
0.00004
|
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys)
|
rs144959783
|
0.00004
|
NM_017739.4(POMGNT1):c.354+3C>T
|
rs372425155
|
0.00004
|
NM_017739.4(POMGNT1):c.99G>T (p.Arg33=)
|
rs767852518
|
0.00004
|
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro)
|
rs200227264
|
0.00003
|
NM_017739.4(POMGNT1):c.289C>T (p.Arg97Trp)
|
rs564076183
|
0.00003
|
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)
|
rs375420073
|
0.00003
|
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp)
|
rs34058684
|
0.00003
|
NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp)
|
rs774633618
|
0.00002
|
NM_017739.4(POMGNT1):c.121-7C>T
|
rs376662637
|
0.00002
|
NM_017739.4(POMGNT1):c.130G>A (p.Val44Met)
|
rs764388322
|
0.00002
|
NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro)
|
rs779506923
|
0.00002
|
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly)
|
rs751402236
|
0.00002
|
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp)
|
rs770834730
|
0.00002
|
NM_017739.4(POMGNT1):c.300C>T (p.Asp100=)
|
rs748654101
|
0.00002
|
NM_017739.4(POMGNT1):c.-64G>A
|
rs927602645
|
0.00001
|
NM_017739.4(POMGNT1):c.105G>A (p.Leu35=)
|
rs1411611657
|
0.00001
|
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)
|
rs768700187
|
0.00001
|
NM_017739.4(POMGNT1):c.110G>T (p.Arg37Ile)
|
rs144746222
|
0.00001
|
NM_017739.4(POMGNT1):c.120+10T>A
|
rs1658352895
|
0.00001
|
NM_017739.4(POMGNT1):c.120+6G>C
|
rs1344774466
|
0.00001
|
NM_017739.4(POMGNT1):c.121-10C>T
|
rs748734868
|
0.00001
|
NM_017739.4(POMGNT1):c.126G>A (p.Gly42=)
|
rs374480891
|
0.00001
|
NM_017739.4(POMGNT1):c.137T>C (p.Phe46Ser)
|
rs1314508009
|
0.00001
|
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile)
|
rs766383336
|
0.00001
|
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp)
|
rs546654268
|
0.00001
|
NM_017739.4(POMGNT1):c.168G>A (p.Lys56=)
|
rs539988776
|
0.00001
|
NM_017739.4(POMGNT1):c.172A>G (p.Ile58Val)
|
rs886044042
|
0.00001
|
NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala)
|
rs768245322
|
0.00001
|
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)
|
rs193919337
|
0.00001
|
NM_017739.4(POMGNT1):c.192C>T (p.Ala64=)
|
rs373686838
|
0.00001
|
NM_017739.4(POMGNT1):c.213C>T (p.Asp71=)
|
rs909246508
|
0.00001
|
NM_017739.4(POMGNT1):c.236-1G>T
|
rs1057516477
|
0.00001
|
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys)
|
rs1238403887
|
0.00001
|
NM_017739.4(POMGNT1):c.255G>A (p.Leu85=)
|
rs754111936
|
0.00001
|
NM_017739.4(POMGNT1):c.264A>G (p.Pro88=)
|
rs1557677974
|
0.00001
|
NM_017739.4(POMGNT1):c.304G>A (p.Glu102Lys)
|
rs749603354
|
0.00001
|
NM_017739.4(POMGNT1):c.313T>C (p.Ser105Pro)
|
rs780158040
|
0.00001
|
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu)
|
rs1459243404
|
0.00001
|
NM_017739.4(POMGNT1):c.330A>G (p.Val110=)
|
rs1658269711
|
0.00001
|
NM_017739.4(POMGNT1):c.87G>A (p.Leu29=)
|
rs794727291
|
0.00001
|
NC_000001.10:g.(?_46654381)_(46656466_?)del
|
|
|
NC_000001.10:g.(?_46654381)_(46659607_?)dup
|
|
|
NC_000001.10:g.(?_46654904)_(46660083_?)dup
|
|
|
NC_000001.10:g.(?_46654942)_(46655681_?)del
|
|
|
NC_000001.10:g.(?_46654942)_(46655681_?)dup
|
|
|
NC_000001.10:g.(?_46654942)_(46656476_?)dup
|
|
|
NC_000001.10:g.(?_46654942)_(46661769_?)dup
|
|
|
NC_000001.10:g.(?_46654942)_(46663493_?)dup
|
|
|
NC_000001.10:g.(?_46655193)_(46661449_?)del
|
|
|
NC_000001.10:g.(?_46656382)_(46662766_?)del
|
|
|
NC_000001.10:g.(?_46662492)_(46662823_?)del
|
|
|
NC_000001.10:g.(?_46663448)_(46664153_?)del
|
|
|
NC_000001.11:g.(?_46188709)_(46194411_?)dup
|
|
|
NC_000001.11:g.(?_46189232)_(46197831_?)dup
|
|
|
NM_017739.4(POMGNT1):c.100G>A (p.Ala34Thr)
|
rs1658356810
|
|
NM_017739.4(POMGNT1):c.102C>T (p.Ala34=)
|
rs2148222428
|
|
NM_017739.4(POMGNT1):c.104T>A (p.Leu35Gln)
|
rs2148222413
|
|
NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)
|
|
|
NM_017739.4(POMGNT1):c.108G>A (p.Arg36=)
|
|
|
NM_017739.4(POMGNT1):c.10del (p.Trp4fs)
|
rs1571672866
|
|
NM_017739.4(POMGNT1):c.114C>T (p.Phe38=)
|
rs574593030
|
|
NM_017739.4(POMGNT1):c.115T>C (p.Cys39Arg)
|
|
|
NM_017739.4(POMGNT1):c.116G>C (p.Cys39Ser)
|
rs775392834
|
|
NM_017739.4(POMGNT1):c.120+10T>C
|
rs1658352895
|
|
NM_017739.4(POMGNT1):c.120+16A>G
|
|
|
NM_017739.4(POMGNT1):c.120+19C>T
|
|
|
NM_017739.4(POMGNT1):c.120+1G>A
|
|
|
NM_017739.4(POMGNT1):c.120+2T>A
|
rs1658353874
|
|
NM_017739.4(POMGNT1):c.120+4T>C
|
rs1223030962
|
|
NM_017739.4(POMGNT1):c.120+8G>A
|
|
|
NM_017739.4(POMGNT1):c.120G>A (p.Gln40=)
|
rs1658354104
|
|
NM_017739.4(POMGNT1):c.121-10C>G
|
|
|
NM_017739.4(POMGNT1):c.121-11C>T
|
|
|
NM_017739.4(POMGNT1):c.121-12C>A
|
rs754484485
|
|
NM_017739.4(POMGNT1):c.121-13C>A
|
|
|
NM_017739.4(POMGNT1):c.121-13C>T
|
|
|
NM_017739.4(POMGNT1):c.121-15T>C
|
|
|
NM_017739.4(POMGNT1):c.121-17C>A
|
|
|
NM_017739.4(POMGNT1):c.121-2A>G
|
rs1057516871
|
|
NM_017739.4(POMGNT1):c.121-3C>T
|
rs2148219601
|
|
NM_017739.4(POMGNT1):c.121-67_265del
|
rs1658278935
|
|
NM_017739.4(POMGNT1):c.121-67_265delinsTAG
|
|
|
NM_017739.4(POMGNT1):c.121-6C>A
|
rs558052679
|
|
NM_017739.4(POMGNT1):c.121-6C>T
|
rs558052679
|
|
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala)
|
rs886046386
|
|
NM_017739.4(POMGNT1):c.127G>A (p.Ala43Thr)
|
|
|
NM_017739.4(POMGNT1):c.127G>C (p.Ala43Pro)
|
|
|
NM_017739.4(POMGNT1):c.129C>G (p.Ala43=)
|
|
|
NM_017739.4(POMGNT1):c.12del (p.Asp3_Trp4insTer)
|
|
|
NM_017739.4(POMGNT1):c.132G>A (p.Val44=)
|
rs1658306175
|
|
NM_017739.4(POMGNT1):c.134T>A (p.Leu45His)
|
rs2148219431
|
|
NM_017739.4(POMGNT1):c.137del (p.Phe46fs)
|
|
|
NM_017739.4(POMGNT1):c.141G>T (p.Leu47=)
|
rs2148219389
|
|
NM_017739.4(POMGNT1):c.144G>A (p.Leu48=)
|
rs776815245
|
|
NM_017739.4(POMGNT1):c.150T>G (p.Thr50=)
|
rs2148219359
|
|
NM_017739.4(POMGNT1):c.151G>A (p.Val51Ile)
|
rs2148219344
|
|
NM_017739.4(POMGNT1):c.156T>C (p.Ile52=)
|
rs2148219292
|
|
NM_017739.4(POMGNT1):c.159C>T (p.Val53=)
|
|
|
NM_017739.4(POMGNT1):c.163A>G (p.Ile55Val)
|
rs2148219236
|
|
NM_017739.4(POMGNT1):c.165C>T (p.Ile55=)
|
|
|
NM_017739.4(POMGNT1):c.169T>G (p.Leu57Val)
|
|
|
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser)
|
rs1553164303
|
|
NM_017739.4(POMGNT1):c.174C>T (p.Ile58=)
|
rs1262461613
|
|
NM_017739.4(POMGNT1):c.175C>T (p.Leu59=)
|
|
|
NM_017739.4(POMGNT1):c.180C>T (p.Asp60=)
|
rs2148219090
|
|
NM_017739.4(POMGNT1):c.183T>C (p.Thr61=)
|
rs748826601
|
|
NM_017739.4(POMGNT1):c.184C>G (p.Arg62Gly)
|
rs1352412667
|
|
NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp)
|
rs1352412667
|
|
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln)
|
rs779506923
|
|
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)
|
rs1057517153
|
|
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)
|
rs141421141
|
|
NM_017739.4(POMGNT1):c.18C>T (p.Pro6=)
|
rs1411103437
|
|
NM_017739.4(POMGNT1):c.196A>G (p.Ser66Gly)
|
|
|
NM_017739.4(POMGNT1):c.198T>C (p.Ser66=)
|
rs2148218905
|
|
NM_017739.4(POMGNT1):c.19A>G (p.Ser7Gly)
|
rs2148222925
|
|
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)
|
|
|
NM_017739.4(POMGNT1):c.201A>G (p.Glu67=)
|
|
|
NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)
|
|
|
NM_017739.4(POMGNT1):c.20del (p.Ser7fs)
|
|
|
NM_017739.4(POMGNT1):c.214C>T (p.Pro72Ser)
|
rs2148218769
|
|
NM_017739.4(POMGNT1):c.215dup (p.Glu73fs)
|
|
|
NM_017739.4(POMGNT1):c.225G>A (p.Glu75=)
|
rs2148218728
|
|
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)
|
rs972657462
|
|
NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)
|
|
|
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)
|
rs1553164129
|
|
NM_017739.4(POMGNT1):c.235+11G>A
|
rs2148218572
|
|
NM_017739.4(POMGNT1):c.235+18A>T
|
|
|
NM_017739.4(POMGNT1):c.235+20G>A
|
rs2148218480
|
|
NM_017739.4(POMGNT1):c.235+2T>C
|
rs2148218654
|
|
NM_017739.4(POMGNT1):c.235+2T>G
|
rs2148218654
|
|
NM_017739.4(POMGNT1):c.235G>A (p.Asp79Asn)
|
rs1658296449
|
|
NM_017739.4(POMGNT1):c.236-15T>C
|
|
|
NM_017739.4(POMGNT1):c.236-15_236-7del
|
rs769193448
|
|
NM_017739.4(POMGNT1):c.236-16C>T
|
|
|
NM_017739.4(POMGNT1):c.236-17C>A
|
|
|
NM_017739.4(POMGNT1):c.236-17C>T
|
|
|
NM_017739.4(POMGNT1):c.236-19G>A
|
|
|
NM_017739.4(POMGNT1):c.236-1G>C
|
|
|
NM_017739.4(POMGNT1):c.236-1_236del
|
|
|
NM_017739.4(POMGNT1):c.236-5C>A
|
|
|
NM_017739.4(POMGNT1):c.236-6C>T
|
rs2148217861
|
|
NM_017739.4(POMGNT1):c.236-8C>T
|
|
|
NM_017739.4(POMGNT1):c.237T>G (p.Asp79Glu)
|
rs748566125
|
|
NM_017739.4(POMGNT1):c.243C>G (p.Ala81=)
|
rs200570654
|
|
NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs)
|
rs2148217590
|
|
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)
|
rs373866304
|
|
NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu)
|
rs373866304
|
|
NM_017739.4(POMGNT1):c.252C>T (p.Arg84=)
|
|
|
NM_017739.4(POMGNT1):c.256G>C (p.Glu86Gln)
|
rs1658280808
|
|
NM_017739.4(POMGNT1):c.258G>A (p.Glu86=)
|
rs2148217653
|
|
NM_017739.4(POMGNT1):c.259C>T (p.Pro87Ser)
|
rs1557677993
|
|
NM_017739.4(POMGNT1):c.25dup (p.Leu9fs)
|
rs386834027
|
|
NM_017739.4(POMGNT1):c.261C>G (p.Pro87=)
|
|
|
NM_017739.4(POMGNT1):c.261C>T (p.Pro87=)
|
rs1658279896
|
|
NM_017739.4(POMGNT1):c.263del (p.Pro88fs)
|
rs1557677980
|
|
NM_017739.4(POMGNT1):c.265C>T (p.Arg89Trp)
|
|
|
NM_017739.4(POMGNT1):c.270C>A (p.Arg90=)
|
|
|
NM_017739.4(POMGNT1):c.275G>A (p.Gly92Asp)
|
rs761706300
|
|
NM_017739.4(POMGNT1):c.284C>T (p.Pro95Leu)
|
rs1334885135
|
|
NM_017739.4(POMGNT1):c.285C>T (p.Pro95=)
|
rs2148217334
|
|
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln)
|
rs200227264
|
|
NM_017739.4(POMGNT1):c.289C>A (p.Arg97=)
|
rs564076183
|
|
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
|
|
|
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
|
|
|
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)
|
rs749603354
|
|
NM_017739.4(POMGNT1):c.307del (p.Val103fs)
|
|
|
NM_017739.4(POMGNT1):c.309G>A (p.Val103=)
|
rs1553164091
|
|
NM_017739.4(POMGNT1):c.30C>G (p.Ile10Met)
|
rs781102649
|
|
NM_017739.4(POMGNT1):c.310T>G (p.Tyr104Asp)
|
rs2148217123
|
|
NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)
|
|
|
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His)
|
rs527454065
|
|
NM_017739.4(POMGNT1):c.324C>T (p.Ser108=)
|
|
|
NM_017739.4(POMGNT1):c.328G>T (p.Val110Leu)
|
rs762760509
|
|
NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)
|
|
|
NM_017739.4(POMGNT1):c.333T>C (p.Tyr111=)
|
|
|
NM_017739.4(POMGNT1):c.33G>A (p.Lys11=)
|
|
|
NM_017739.4(POMGNT1):c.341T>C (p.Val114Ala)
|
rs2148216895
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
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rs386834028
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NM_017739.4(POMGNT1):c.353C>T (p.Thr118Met)
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NM_017739.4(POMGNT1):c.354+14G>T
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NM_017739.4(POMGNT1):c.354+15G>A
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NM_017739.4(POMGNT1):c.354+15G>C
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NM_017739.4(POMGNT1):c.354+15G>T
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NM_017739.4(POMGNT1):c.354+1G>A
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rs1057517449
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NM_017739.4(POMGNT1):c.354+6T>C
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rs1208898067
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NM_017739.4(POMGNT1):c.354+8G>A
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NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)
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NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)
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NM_017739.4(POMGNT1):c.36C>T (p.Pro12=)
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NM_017739.4(POMGNT1):c.36del (p.Phe13fs)
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rs1658363329
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NM_017739.4(POMGNT1):c.38T>G (p.Phe13Cys)
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NM_017739.4(POMGNT1):c.39T>C (p.Phe13=)
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rs2148222786
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NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)
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NM_017739.4(POMGNT1):c.45T>C (p.Ala15=)
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rs2148222755
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NM_017739.4(POMGNT1):c.47G>A (p.Arg16Gln)
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NM_017739.4(POMGNT1):c.49A>T (p.Lys17Ter)
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NM_017739.4(POMGNT1):c.52A>G (p.Lys18Glu)
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rs1553164287
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NM_017739.4(POMGNT1):c.54G>A (p.Lys18=)
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rs1364921620
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NM_017739.4(POMGNT1):c.55C>A (p.Arg19=)
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rs757941122
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NM_017739.4(POMGNT1):c.55C>T (p.Arg19Trp)
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rs757941122
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NM_017739.4(POMGNT1):c.56G>A (p.Arg19Gln)
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NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer)
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rs1057516478
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NM_017739.4(POMGNT1):c.61T>C (p.Trp21Arg)
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rs2148222670
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NM_017739.4(POMGNT1):c.6C>G (p.Asp2Glu)
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NM_017739.4(POMGNT1):c.6C>T (p.Asp2=)
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rs375238770
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NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala)
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rs766907690
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NM_017739.4(POMGNT1):c.72C>T (p.Thr24=)
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NM_017739.4(POMGNT1):c.74_75delinsTT (p.Trp25Phe)
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rs2148222600
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NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter)
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rs1264635358
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NM_017739.4(POMGNT1):c.75del (p.Thr24_Trp25insTer)
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rs2148222613
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NM_017739.4(POMGNT1):c.7G>C (p.Asp3His)
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rs201637813
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NM_017739.4(POMGNT1):c.81T>C (p.Tyr27=)
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NM_017739.4(POMGNT1):c.87_90dup (p.Asn31fs)
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NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)
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NM_017739.4(POMGNT1):c.94del (p.Gln32fs)
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NM_017739.4(POMGNT1):c.96G>A (p.Gln32=)
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NM_017739.4(POMGNT1):c.97C>T (p.Arg33Trp)
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rs750839370
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NM_017739.4(POMGNT1):c.99G>A (p.Arg33=)
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