NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)
|
rs199849117
|
0.00008
|
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter)
|
rs201190064
|
0.00006
|
NM_001126108.2(SLC12A3):c.2037+1G>A
|
rs775799617
|
0.00005
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)
|
rs775931992
|
0.00002
|
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter)
|
rs746818109
|
0.00002
|
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met)
|
rs771326058
|
0.00002
|
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro)
|
rs121909385
|
0.00001
|
NM_001126108.2(SLC12A3):c.1926-1G>T
|
rs755560627
|
0.00001
|
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)
|
rs751929135
|
0.00001
|
NM_001126108.2(SLC12A3):c.2633+1G>A
|
rs778455414
|
0.00001
|
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)
|
rs772589653
|
0.00001
|
NC_000016.9:g.(?_56899118)_56906295del
|
|
|
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)
|
rs2153023287
|
|
NM_000339.2:c.(?_-30)_885del
|
|
|
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter)
|
rs747139582
|
|
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)
|
rs781342495
|
|
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly)
|
rs2144711663
|
|
NM_001126108.2(SLC12A3):c.1850A>G (p.Gln617Arg)
|
|
|
NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro)
|
|
|
NM_001126108.2(SLC12A3):c.2186G>C (p.Gly729Ala)
|
|
|
NM_001126108.2(SLC12A3):c.2369-2A>G
|
|
|
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)
|
|
|
NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs)
|
|
|
NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)
|
|
|
NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly)
|
rs2055081574
|
|
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)
|
rs748920885
|
|
NM_001126108.2(SLC12A3):c.964+1G>A
|
rs1596895536
|
|