NM_004817.4(TJP2):c.239+19T>C
|
rs2498417
|
0.90366
|
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)
|
rs2309428
|
0.77489
|
NM_004817.4(TJP2):c.2992-19G>A
|
rs2282335
|
0.39706
|
NM_004817.4(TJP2):c.2715C>T (p.Thr905=)
|
rs2282336
|
0.22650
|
NM_004817.4(TJP2):c.2727G>A (p.Ala909=)
|
rs2095876
|
0.22643
|
NM_004817.4(TJP2):c.2180-34G>A
|
rs2309421
|
0.22518
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)
|
rs376663560
|
0.00033
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)
|
rs139276234
|
0.00022
|
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)
|
rs139636763
|
0.00015
|
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)
|
rs201366118
|
0.00014
|
NM_004817.4(TJP2):c.3407+3A>G
|
rs727505291
|
0.00007
|
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)
|
rs746223152
|
0.00004
|
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)
|
rs142684074
|
0.00004
|
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)
|
rs201144827
|
0.00003
|
NM_004817.4(TJP2):c.428T>C (p.Met143Thr)
|
rs1011824757
|
0.00003
|
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)
|
rs139314808
|
0.00002
|
NM_004817.4(TJP2):c.1056+2T>C
|
rs1278244243
|
0.00001
|
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn)
|
rs1060499649
|
0.00001
|
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg)
|
rs748191387
|
0.00001
|
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)
|
rs928915940
|
0.00001
|
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter)
|
rs748671901
|
0.00001
|
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro)
|
rs1563950539
|
0.00001
|
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter)
|
rs749009273
|
0.00001
|
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup
|
|
|
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
|
|
|
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter)
|
rs1182781290
|
|
NM_004817.4(TJP2):c.115-1G>A
|
rs1588080680
|
|
NM_004817.4(TJP2):c.115-2A>C
|
rs1588080674
|
|
NM_004817.4(TJP2):c.1157del (p.Gln386fs)
|
rs2133314949
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter)
|
rs777460754
|
|
NM_004817.4(TJP2):c.1243del (p.Ser415fs)
|
rs1057518679
|
|
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter)
|
rs1251192873
|
|
NM_004817.4(TJP2):c.1361del (p.Ala454fs)
|
rs587777520
|
|
NM_004817.4(TJP2):c.1517_1520+8del
|
|
|
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser)
|
rs1588117076
|
|
NM_004817.4(TJP2):c.1672-1G>A
|
rs1588127136
|
|
NM_004817.4(TJP2):c.1672-27del
|
rs202100183
|
|
NM_004817.4(TJP2):c.1765C>T (p.Gln589Ter)
|
|
|
NM_004817.4(TJP2):c.1855A>G (p.Thr619Ala)
|
|
|
NM_004817.4(TJP2):c.1992-2A>G
|
rs587777521
|
|
NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser)
|
rs199605381
|
|
NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter)
|
|
|
NM_004817.4(TJP2):c.2180-5T>G
|
rs1588135086
|
|
NM_004817.4(TJP2):c.2188A>T (p.Lys730Ter)
|
|
|
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)
|
rs1830379007
|
|
NM_004817.4(TJP2):c.2363A>T (p.His788Leu)
|
|
|
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg)
|
rs1588081022
|
|
NM_004817.4(TJP2):c.239+1G>A
|
rs749237210
|
|
NM_004817.4(TJP2):c.2438dup (p.Asn814fs)
|
rs776869985
|
|
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter)
|
rs1830481830
|
|
NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs)
|
rs2133456150
|
|
NM_004817.4(TJP2):c.2667+3A>G
|
|
|
NM_004817.4(TJP2):c.2668-1G>T
|
rs864321695
|
|
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)
|
rs1225374015
|
|
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del)
|
rs746080083
|
|
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)
|
rs886041948
|
|
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
|
|
|
NM_004817.4(TJP2):c.766_769del (p.Ala256fs)
|
rs587777518
|
|
NM_004817.4(TJP2):c.782del (p.Tyr261fs)
|
rs771690686
|
|
NM_004817.4(TJP2):c.813_814del (p.Ala273fs)
|
rs1554660803
|
|
NM_004817.4(TJP2):c.817del (p.Ala273fs)
|
rs864321697
|
|
NM_004817.4(TJP2):c.885del (p.Ser296fs)
|
rs587777519
|
|