|
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)
|
rs561633150
|
0.00061
|
|
NM_020041.3(SLC2A9):c.593G>A (p.Arg198His)
|
rs756988113
|
0.00003
|
|
NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr)
|
rs1293775732
|
0.00001
|
|
NM_000276.4(OCRL):c.1056+1G>A
|
|
|
|
NM_000276.4(OCRL):c.1245-1083G>A
|
rs1936192276
|
|
|
NM_000276.4(OCRL):c.1467-1G>A
|
|
|
|
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu)
|
rs1602802472
|
|
|
NM_000276.4(OCRL):c.1979A>C (p.His660Pro)
|
rs1602802640
|
|
|
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu)
|
rs1936370877
|
|
|
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)
|
rs1933891368
|
|
|
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His)
|
rs1569540369
|
|
|
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs)
|
rs1934037265
|
|
|
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs)
|
rs1934037561
|
|
|
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn)
|
rs1934039336
|
|
|
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys)
|
rs1934041295
|
|
|
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs)
|
rs1934069016
|
|
|
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs)
|
rs1933380245
|
|
|
NM_001127898.4(CLCN5):c.933+2T>C
|
rs2147582103
|
|
|
NM_001127898.4(CLCN5):c.976G>C (p.Gly326Arg)
|
rs2147594126
|
|
|
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn)
|
rs2108658339
|
|
|
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro)
|
rs2108670592
|
|
|
NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln)
|
rs968906940
|
|
|
NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu)
|
rs138308105
|
|
|
NM_017649.5(CNNM2):c.1147A>G (p.Met383Val)
|
rs1845550578
|
|
|
NM_017672.6(TRPM7):c.3137G>A (p.Gly1046Asp)
|
rs2059709974
|
|
|
NM_057176.3(BSND):c.452del (p.Pro151fs)
|
rs765135576
|
|
|
NM_144585.4(SLC22A12):c.1523G>A (p.Ser508Asn)
|
|
|
|
NM_144585.4(SLC22A12):c.412G>C (p.Val138Leu)
|
rs149722479
|
|
|
NM_144585.4(SLC22A12):c.502G>A (p.Asp168Asn)
|
rs2135442758
|
|
|
NM_148960.3(CLDN19):c.181C>T (p.Gln61Ter)
|
|
|
|
NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys)
|
rs1557551678
|
|