NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln)
|
rs149868979
|
0.00016
|
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
|
rs750647872
|
0.00003
|
NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)
|
rs772862268
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_024009.3(GJB3):c.703C>T (p.Arg235Ter)
|
rs144964568
|
0.00001
|
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)
|
rs1262416703
|
0.00001
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000059.4(BRCA2):c.7506_7507insTCTT (p.Val2503fs)
|
rs2137562363
|
|
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter)
|
rs1598136954
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter)
|
rs1559637815
|
|
NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter)
|
rs1114167803
|
|
NM_000179.3(MSH6):c.3801+1_3801+2insGTAT
|
rs2104547230
|
|
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter)
|
rs62517201
|
|
NM_000335.5(SCN5A):c.5684_5685del (p.Leu1895fs)
|
rs770059377
|
|
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)
|
rs979690054
|
|
NM_001083603.3(PTCH1):c.179_180del (p.Lys60fs)
|
rs1447209500
|
|
NM_001110219.3(GJB6):c.487del (p.Leu163fs)
|
rs1566538321
|
|
NM_001218.5(CA12):c.956_957del (p.Val319fs)
|
rs757974800
|
|
NM_001845.6(COL4A1):c.2337del (p.Ile780fs)
|
rs2139165506
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
NM_004004.6(GJB2):c.247_249del (p.Phe83del)
|
rs2137308192
|
|
NM_004260.4(RECQL4):c.2889del (p.Pro965fs)
|
rs1586795973
|
|
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter)
|
rs868635592
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_005732.4(RAD50):c.2099_2100del (p.Asp700fs)
|
rs2149844146
|
|
NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter)
|
rs1563145763
|
|
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs)
|
rs2132953243
|
|
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs)
|
rs2132953252
|
|
NM_024675.4(PALB2):c.2585del (p.Lys862fs)
|
rs752513498
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter)
|
rs2127727924
|
|
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
|
rs1772735425
|
|
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)
|
rs1553299022
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|