NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
|
rs863225147
|
0.00004
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
0.00003
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
NM_001134831.2(AHI1):c.1152-2A>G
|
rs753085250
|
0.00001
|
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)
|
rs863225143
|
0.00001
|
NM_001134831.2(AHI1):c.1626+1G>A
|
rs863225137
|
0.00001
|
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)
|
rs541041911
|
0.00001
|
NM_001134831.2(AHI1):c.2172del (p.Trp725fs)
|
rs755407014
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)
|
rs368788993
|
0.00001
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)
|
rs863225133
|
|
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.1614del (p.Val539fs)
|
rs863225141
|
|
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC
|
rs863225148
|
|
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs)
|
rs863225132
|
|
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)
|
rs764412921
|
|
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)
|
rs772989270
|
|
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)
|
rs863225145
|
|
NM_001134831.2(AHI1):c.2036+1G>T
|
rs776093293
|
|
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)
|
rs863225136
|
|
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)
|
rs863225134
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)
|
rs863225140
|
|
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)
|
rs863225139
|
|
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|