NM_016111.4(TELO2):c.682+115C>T
|
rs2235630
|
0.61186
|
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg)
|
rs2235624
|
0.51194
|
NM_016111.4(TELO2):c.2226+38A>G
|
rs11248882
|
0.42009
|
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg)
|
rs2248128
|
0.41062
|
NM_016111.4(TELO2):c.2415T>C (p.Ala805=)
|
rs3180228
|
0.37206
|
NM_016111.4(TELO2):c.2227-39C>T
|
rs3736721
|
0.22446
|
NM_016111.4(TELO2):c.2376C>T (p.Asp792=)
|
rs200969710
|
0.00017
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_016111.4(TELO2):c.238C>A (p.His80Asn)
|
rs199863486
|
0.00014
|
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)
|
rs200293618
|
0.00012
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)
|
rs187225056
|
0.00006
|
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile)
|
rs775272837
|
0.00004
|
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)
|
rs142217951
|
0.00004
|
NM_016111.4(TELO2):c.194G>C (p.Cys65Ser)
|
rs141008024
|
0.00004
|
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
|
rs878853271
|
0.00003
|
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)
|
rs766665093
|
0.00001
|
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)
|
rs754162070
|
0.00001
|
NM_016111.4(TELO2):c.1842+5G>A
|
rs758551997
|
0.00001
|
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)
|
rs150934316
|
0.00001
|
NM_016111.4(TELO2):c.682+1G>A
|
rs779227414
|
0.00001
|
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)
|
rs369656775
|
0.00001
|
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
|
|
|
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)
|
rs199748546
|
|
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)
|
rs2039707751
|
|
NM_016111.4(TELO2):c.1546C>T (p.Arg516Trp)
|
|
|
NM_016111.4(TELO2):c.1612_1621dup (p.Leu541delinsProTer)
|
|
|
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
|
|
|
NM_016111.4(TELO2):c.2226+1G>C
|
|
|
NM_016111.4(TELO2):c.2407+77A>T
|
rs12927760
|
|
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)
|
rs2040070431
|
|
NM_016111.4(TELO2):c.340A>C (p.Ser114Arg)
|
|
|
NM_016111.4(TELO2):c.490C>T (p.Pro164Ser)
|
|
|
NM_016111.4(TELO2):c.925C>T (p.Arg309Trp)
|
|
|
NM_016111.4(TELO2):c.933+11del
|
rs11344586
|
|
NM_016111.4(TELO2):c.946C>T (p.Gln316Ter)
|
|
|
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro)
|
rs750187494
|
|
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs)
|
|
|