NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)
|
rs371263807
|
0.00010
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr)
|
rs922663658
|
0.00002
|
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)
|
rs1442825433
|
0.00001
|
GRCh37/hg19 12p12.3(chr12:15800060-15865927)
|
|
|
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)
|
rs1488232864
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
|
NM_000277.3(PAH):c.1200-2A>C
|
rs1592945607
|
|
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
|
rs1592945394
|
|
NM_000277.3(PAH):c.1316-1G>A
|
rs1592944816
|
|
NM_000277.3(PAH):c.32T>A (p.Leu11Ter)
|
rs1346707834
|
|
NM_000277.3(PAH):c.346_347del (p.Asp116fs)
|
rs1592978629
|
|
NM_000277.3(PAH):c.590T>A (p.Leu197Ter)
|
rs886042078
|
|
NM_000360.4(TH):c.601C>T (p.Gln201Ter)
|
rs1057517423
|
|
NM_000466.3(PEX1):c.1483+1G>A
|
rs1585244586
|
|
NM_000466.3(PEX1):c.1727dup (p.Arg577fs)
|
rs1585238595
|
|
NM_001384474.1(LOXHD1):c.3351-1G>A
|
rs868646051
|
|
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter)
|
rs2036157162
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004447.6(EPS8):c.1435-2A>T
|
rs1945336251
|
|
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)
|
rs776436008
|
|
NM_017807.4(OSGEP):c.560G>T (p.Gly187Val)
|
rs1417690595
|
|