NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter)
|
rs370866589
|
0.00003
|
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter)
|
rs121912739
|
0.00001
|
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)
|
rs1311857509
|
0.00001
|
NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter)
|
rs1976175724
|
0.00001
|
NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn)
|
rs1423415130
|
0.00001
|
NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg)
|
rs1361897950
|
|
NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs)
|
rs1560165127
|
|
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)
|
rs150168522
|
|
NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys)
|
rs1828087195
|
|
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln)
|
rs1828106198
|
|
NM_003995.4(NPR2):c.1215del (p.Gln406fs)
|
rs1828107536
|
|
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)
|
rs749952755
|
|
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)
|
rs751324720
|
|
NM_003995.4(NPR2):c.1887+2T>A
|
rs1828226013
|
|
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)
|
rs1828356952
|
|
NM_003995.4(NPR2):c.2870G>A (p.Arg957His)
|
rs1828565145
|
|
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly)
|
rs1828609114
|
|
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del)
|
rs1828637001
|
|
NM_003995.4(NPR2):c.328C>T (p.Arg110Cys)
|
rs758478717
|
|
NM_003995.4(NPR2):c.329G>A (p.Arg110His)
|
rs1827825533
|
|
NM_003995.4(NPR2):c.422G>A (p.Arg141His)
|
rs1827828857
|
|
NM_003995.4(NPR2):c.661G>A (p.Gly221Arg)
|
rs1440373349
|
|
NM_003995.4(NPR2):c.748del (p.Tyr250fs)
|
rs1827867580
|
|
NM_003995.4(NPR2):c.866C>A (p.Ala289Asp)
|
rs915823109
|
|
NM_003995.4(NPR2):c.873+3A>G
|
rs1827874317
|
|
NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu)
|
rs137853933
|
|
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter)
|
rs1561892336
|
|
NM_014780.5(CUL7):c.206dup (p.Met69fs)
|
rs1561898352
|
|
NM_014780.5(CUL7):c.3089del (p.Pro1030fs)
|
rs1561881909
|
|
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter)
|
rs1561875767
|
|
NM_014780.5(CUL7):c.4115del (p.Glu1372fs)
|
rs1561873941
|
|
NM_014780.5(CUL7):c.418_419del (p.Thr140fs)
|
rs1764489246
|
|
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)
|
rs1559155954
|
|
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)
|
rs1559155800
|
|
NM_015311.3(OBSL1):c.1277_1282+5del
|
rs760929207
|
|
NM_018238.4(AGK):c.1215dup (p.Phe406fs)
|
rs1587181981
|
|
NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp)
|
rs781358829
|
|
NM_025000.4(DCAF17):c.270dup (p.Cys91fs)
|
rs879253799
|
|
NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter)
|
rs1567871748
|
|
NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter)
|
rs1566078009
|
|