NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
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.*531C>T
|
rs769094628
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_017739.4(POMGNT1):c.*500G>A
|
rs764840485
|
0.00002
|
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)
|
rs766382416
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_017739.4(POMGNT1):c.*30_*33del
|
rs1553162554
|
0.00001
|
NM_017739.4(POMGNT1):c.*404_*405dup
|
rs940315351
|
0.00001
|
NM_017739.4(POMGNT1):c.1152+2T>C
|
rs1553163335
|
0.00001
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
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.1865T>C (p.Leu622Pro)
|
rs377170894
|
0.00001
|
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)
|
rs1048865247
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_017739.4(POMGNT1):c.*335_*361del
|
rs754791169
|
|
NM_017739.4(POMGNT1):c.*499G>A
|
rs866924336
|
|
NM_017739.4(POMGNT1):c.*513del
|
rs1553162438
|
|
NM_017739.4(POMGNT1):c.*5TCC[1]
|
rs780919404
|
|
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.1212-1G>C
|
rs1553163254
|
|
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.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
NM_017739.4(POMGNT1):c.1538_1539+2del
|
rs1057516576
|
|
NM_017739.4(POMGNT1):c.1539+1G>T
|
rs138642840
|
|
NM_017739.4(POMGNT1):c.1539+1del
|
rs1553163077
|
|
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.1741_1745del (p.Met581fs)
|
rs749332339
|
|
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.1842_1844del (p.Leu614del)
|
rs1553162667
|
|
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)
|
rs1553162663
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.1895+1G>C
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT
|
rs1553162621
|
|
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)
|
rs1553162601
|
|
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn)
|
rs144068158
|
|
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup)
|
rs1553162587
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup)
|
rs1553163909
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
NM_017739.4(POMGNT1):c.653-2A>C
|
rs1553163721
|
|
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)
|
rs386834010
|
|
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.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
|
|