NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_017739.4(POMGNT1):c.1152+2T>C
|
rs1553163335
|
0.00001
|
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)
|
rs386834014
|
0.00001
|
NM_017739.4(POMGNT1):c.1605-1G>C
|
rs770219373
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.236-1G>T
|
rs1057516477
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)
|
rs1553163360
|
|
NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs)
|
rs1057517369
|
|
NM_017739.4(POMGNT1):c.120+2T>A
|
rs1658353874
|
|
NM_017739.4(POMGNT1):c.121-2A>G
|
rs1057516871
|
|
NM_017739.4(POMGNT1):c.1212-1G>C
|
rs1553163254
|
|
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe)
|
rs1571655768
|
|
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)
|
rs386834011
|
|
NM_017739.4(POMGNT1):c.1284+2_1284+19del
|
rs1057516409
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg)
|
rs386834013
|
|
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
NM_017739.4(POMGNT1):c.1538_1539+2del
|
rs1057516576
|
|
NM_017739.4(POMGNT1):c.1539+1del
|
rs1553163077
|
|
NM_017739.4(POMGNT1):c.1540-2A>G
|
rs386834016
|
|
NM_017739.4(POMGNT1):c.1562del (p.Lys521fs)
|
rs1057517422
|
|
NM_017739.4(POMGNT1):c.1604+1G>A
|
rs1553162873
|
|
NM_017739.4(POMGNT1):c.1604+2T>C
|
rs1553162872
|
|
NM_017739.4(POMGNT1):c.1649+2T>G
|
rs1268759044
|
|
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)
|
rs193919335
|
|
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs)
|
rs1057516986
|
|
NM_017739.4(POMGNT1):c.1719del (p.His573fs)
|
rs386834017
|
|
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs)
|
rs749332339
|
|
NM_017739.4(POMGNT1):c.1785+2T>G
|
rs386834020
|
|
NM_017739.4(POMGNT1):c.1786-1G>A
|
rs1457667479
|
|
NM_017739.4(POMGNT1):c.1786-2A>G
|
rs1057517340
|
|
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)
|
rs1553162663
|
|
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)
|
rs1057517153
|
|
NM_017739.4(POMGNT1):c.1864del (p.Phe621_Leu622insTer)
|
rs386834021
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+1G>C
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+5_1895+8del
|
rs386834023
|
|
NM_017739.4(POMGNT1):c.1896-1G>C
|
rs386834025
|
|
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)
|
rs1553162601
|
|
NM_017739.4(POMGNT1):c.1928del (p.Phe643fs)
|
rs386834026
|
|
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)
|
rs1553164129
|
|
NM_017739.4(POMGNT1):c.25dup (p.Leu9fs)
|
rs386834027
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
|
rs386834028
|
|
NM_017739.4(POMGNT1):c.354+1G>A
|
rs1057517449
|
|
NM_017739.4(POMGNT1):c.447del (p.Phe149fs)
|
rs386834029
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)
|
rs386834030
|
|
NM_017739.4(POMGNT1):c.593del (p.Ser198fs)
|
rs386834031
|
|
NM_017739.4(POMGNT1):c.594C>G (p.Ser198Arg)
|
rs386834032
|
|
NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer)
|
rs1057516478
|
|
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys)
|
rs386834033
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
NM_017739.4(POMGNT1):c.653-2A>C
|
rs1553163721
|
|
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)
|
rs386834036
|
|
NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr)
|
rs386834037
|
|
NM_017739.4(POMGNT1):c.875del (p.Asp292fs)
|
rs1057517247
|
|
NM_017739.4(POMGNT1):c.879+1G>C
|
rs1553163590
|
|
NM_017739.4(POMGNT1):c.879+2T>C
|
rs1057516318
|
|
NM_017739.4(POMGNT1):c.879+5G>A
|
rs386834038
|
|
NM_017739.4(POMGNT1):c.879+5G>T
|
rs386834038
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.880-2A>G
|
rs1057516830
|
|
NM_017739.4(POMGNT1):c.982dup (p.Val328fs)
|
rs386834040
|
|
NM_017739.4(POMGNT1):c.987del (p.Pro330fs)
|
rs1057516955
|
|