NM_152222.2(RELT):c.1264C>T (p.Arg422Trp)
|
rs139368769
|
0.00108
|
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)
|
rs146148316
|
0.00011
|
NM_000494.4(COL17A1):c.3277+1G>A
|
rs199527325
|
0.00010
|
NM_033068.3(ACP4):c.428C>T (p.Thr143Met)
|
rs546603773
|
0.00003
|
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)
|
rs1564685400
|
0.00001
|
NM_004917.5(KLK4):c.632del (p.Leu211fs)
|
rs556734208
|
0.00001
|
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter)
|
rs1553275195
|
|
NM_000228.3(LAMB3):c.3383-1G>A
|
rs1553275070
|
|
NM_000494.4(COL17A1):c.1861G>A (p.Gly621Ser)
|
|
|
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
|
|
|
NM_000494.4(COL17A1):c.2030G>A (p.Gly677Asp)
|
|
|
NM_000494.4(COL17A1):c.2435-1G>A
|
|
|
NM_000494.4(COL17A1):c.2912del (p.Pro971fs)
|
|
|
NM_000494.4(COL17A1):c.2947+2T>C
|
|
|
NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)
|
|
|
NM_000494.4(COL17A1):c.3397C>T (p.Arg1133Cys)
|
|
|
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
|
|
|
NM_000494.4(COL17A1):c.3456del (p.Pro1154fs)
|
|
|
NM_000494.4(COL17A1):c.3462_3463del (p.Gly1155fs)
|
|
|
NM_000494.4(COL17A1):c.3595G>C (p.Glu1199Gln)
|
|
|
NM_000494.4(COL17A1):c.3605C>T (p.Ser1202Leu)
|
|
|
NM_000494.4(COL17A1):c.4147_4148del (p.Ser1383fs)
|
|
|
NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)
|
|
|
NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)
|
rs1057517672
|
|
NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del)
|
rs1555409827
|
|
NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)
|
rs1057517671
|
|
NM_004771.4(MMP20):c.1122A>C (p.Gln374His)
|
rs916966344
|
|
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)
|
rs199788797
|
|
NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr)
|
rs1565397250
|
|
NM_004771.4(MMP20):c.809_811+12delinsCCAG
|
rs1859555583
|
|
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu)
|
rs1555617226
|
|
NM_005220.3(DLX3):c.574del (p.Glu192fs)
|
rs1057518764
|
|
NM_016519.6(AMBN):c.295T>C (p.Tyr99His)
|
|
|
NM_016519.6(AMBN):c.539dup (p.Val181fs)
|
|
|
NM_016519.6(AMBN):c.571-1G>C
|
|
|
NM_016519.6(AMBN):c.76G>A (p.Ala26Thr)
|
|
|
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)
|
rs1060499539
|
|
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu)
|
rs1085307111
|
|
NM_152222.2(RELT):c.164C>T (p.Thr55Ile)
|
rs1866200282
|
|