NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)
|
rs184474885
|
0.00004
|
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser)
|
rs724160019
|
0.00002
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met)
|
rs724160023
|
0.00001
|
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)
|
rs724160017
|
0.00001
|
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)
|
rs104894922
|
|
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
|
|
|
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr)
|
rs397516335
|
|
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
|
|
|
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)
|
rs1060499806
|
|
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)
|
|
|
NM_000307.5(POU3F4):c.968G>A (p.Arg323His)
|
rs727505246
|
|
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
|
|
|
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)
|
rs926775037
|
|
NM_004208.4(AIFM1):c.-123G>C
|
rs724160014
|
|
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg)
|
rs724160026
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val)
|
rs724160025
|
|
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)
|
rs724160022
|
|
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His)
|
rs724160024
|
|
NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)
|
|
|
NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)
|
|
|
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)
|
rs724160015
|
|
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro)
|
rs724160016
|
|
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)
|
rs724160018
|
|
NM_014332.3(SMPX):c.132+1G>A
|
rs2147390444
|
|
NM_014332.3(SMPX):c.133-1G>A
|
rs1060499590
|
|
NM_014332.3(SMPX):c.217del (p.Ile73fs)
|
|
|
NM_014332.3(SMPX):c.29del (p.Asn10fs)
|
rs2092830420
|
|