NM_000301.5(PLG):c.1414G>A (p.Asp472Asn)
|
rs4252125
|
0.23826
|
NM_152750.5(CDHR3):c.1653+3G>A
|
rs117797654
|
0.01697
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
NM_152750.5(CDHR3):c.1516C>T (p.Leu506Phe)
|
rs76067797
|
0.00424
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_000301.5(PLG):c.782G>A (p.Arg261His)
|
rs4252187
|
0.00273
|
NM_144670.6(A2ML1):c.2713-8C>A
|
rs184386564
|
0.00216
|
NM_152750.5(CDHR3):c.1135C>T (p.Pro379Ser)
|
rs200102793
|
0.00109
|
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)
|
rs147175166
|
0.00073
|
NM_152750.5(CDHR3):c.2185T>C (p.Tyr729His)
|
rs201969268
|
0.00055
|
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)
|
rs117213221
|
0.00051
|
NM_152750.5(CDHR3):c.622G>A (p.Val208Met)
|
rs200019471
|
0.00030
|
NM_006846.4(SPINK5):c.551G>A (p.Gly184Asp)
|
rs201812473
|
0.00024
|
NM_152750.5(CDHR3):c.1064C>T (p.Pro355Leu)
|
rs202204966
|
0.00010
|
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His)
|
rs200346409
|
0.00009
|
NM_144670.6(A2ML1):c.971-8C>T
|
rs780868782
|
0.00006
|
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg)
|
rs201288888
|
0.00002
|
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)
|
rs573527081
|
0.00001
|
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys)
|
rs367588704
|
0.00001
|
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)
|
rs143936434
|
0.00001
|
NM_006846.4(SPINK5):c.2493T>A (p.Asn831Lys)
|
rs760919933
|
0.00001
|
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met)
|
rs773648511
|
0.00001
|
NM_000301.5(PLG):c.1481C>T (p.Ala494Val)
|
rs4252128
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_003064.4(SLPI):c.394+1G>T
|
|
|
NM_006846.4(SPINK5):c.*74A>G
|
rs1754713291
|
|
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile)
|
rs1431744993
|
|
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly)
|
rs1753847242
|
|
NM_006846.4(SPINK5):c.2974A>T (p.Met992Leu)
|
rs1561708913
|
|
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter)
|
rs199757347
|
|
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu)
|
rs1060503188
|
|
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter)
|
rs1409944554
|
|
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His)
|
rs780743143
|
|
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile)
|
rs999028234
|
|
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His)
|
rs1565476223
|
|
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro)
|
rs1465018225
|
|
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu)
|
rs1565479896
|
|
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr)
|
rs1408810942
|
|
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro)
|
rs1565484901
|
|
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val)
|
rs1565487941
|
|
NM_144670.6(A2ML1):c.4061+1G>C
|
rs202067416
|
|
NM_144672.4(OTOA):c.2301+1G>T
|
rs1567396832
|
|
NM_152750.5(CDHR3):c.1316del (p.Pro439fs)
|
rs201638418
|
|
NM_152750.5(CDHR3):c.2392G>T (p.Ala798Ser)
|
rs140818720
|
|