NM_004260.4(RECQL4):c.1390+2del
|
rs386833843
|
0.00043
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_004260.4(RECQL4):c.3072del (p.Val1026fs)
|
rs386833852
|
0.00005
|
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)
|
rs386833851
|
0.00004
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
NM_003332.4(TYROBP):c.141del (p.Met48fs)
|
rs386833840
|
0.00001
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00001
|
NM_004260.4(RECQL4):c.2059-1G>A
|
rs386833849
|
0.00001
|
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)
|
rs386834001
|
0.00001
|
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro)
|
rs386834004
|
0.00001
|
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)
|
rs386834008
|
0.00001
|
NM_018965.4(TREM2):c.313del (p.Ala105fs)
|
rs386834141
|
0.00001
|
NM_018965.4(TREM2):c.482+2T>C
|
rs386834144
|
0.00001
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn)
|
rs386833839
|
|
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg)
|
rs386833841
|
|
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter)
|
rs386833842
|
|
NM_004260.4(RECQL4):c.1885_1888del (p.Arg629fs)
|
rs386833846
|
|
NM_004260.4(RECQL4):c.1887_1890del (p.Glu630fs)
|
rs386833847
|
|
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu)
|
rs386833850
|
|
NM_004260.4(RECQL4):c.3214A>T (p.Arg1072Ter)
|
rs386833853
|
|
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)
|
rs137853230
|
|
NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs)
|
rs386833854
|
|
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs)
|
rs386833999
|
|
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs)
|
rs386834000
|
|
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)
|
rs386834002
|
|
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)
|
rs386834003
|
|
NM_015294.6(TRIM37):c.2212del (p.Glu738fs)
|
rs386833416
|
|
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
|
rs386834005
|
|
NM_015294.6(TRIM37):c.810-1G>A
|
rs386834006
|
|
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)
|
rs386834007
|
|
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val)
|
rs386834009
|
|
NM_018965.4(TREM2):c.269del (p.Gly90fs)
|
rs386834140
|
|
NM_018965.4(TREM2):c.40+4_40+6del
|
rs386834142
|
|
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)
|
rs386834143
|
|
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)
|
rs386834145
|
|
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)
|
rs386834147
|
|