NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)
|
rs80338696
|
0.00008
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His)
|
rs146049960
|
0.00002
|
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser)
|
rs587777101
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)
|
rs587777101
|
|
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)
|
rs587777100
|
|
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)
|
rs1595503440
|
|
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)
|
rs587776456
|
|
NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)
|
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
NM_006363.6(SEC23B):c.1079del (p.Leu360fs)
|
rs1600244935
|
|
NM_006363.6(SEC23B):c.1109+1G>C
|
|
|
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
|
|
|
NM_006363.6(SEC23B):c.1233_1233+1dup
|
|
|
NM_006363.6(SEC23B):c.1314+1G>A
|
|
|
NM_006363.6(SEC23B):c.1314_1314+10del
|
|
|
NM_006363.6(SEC23B):c.1404+5G>A
|
rs1555789463
|
|
NM_006363.6(SEC23B):c.1511+2_1511+5del
|
|
|
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
|
|
|
NM_006363.6(SEC23B):c.1905+1G>A
|
|
|
NM_006363.6(SEC23B):c.221+1G>A
|
|
|
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
|
|
|
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn)
|
rs1600288964
|
|
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
|
|
|
NM_006363.6(SEC23B):c.279+1G>A
|
|
|
NM_006363.6(SEC23B):c.366+1G>A
|
|
|
NM_006363.6(SEC23B):c.367-1G>T
|
|
|
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
|
rs761034212
|
|
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
|
|
|
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)
|
rs2145927881
|
|
NM_006563.5(KLF1):c.913+1G>A
|
rs483352840
|
|
NM_016123.4(IRAK4):c.161+1G>A
|
|
|
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
|
|
|
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu)
|
rs140334403
|
|
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp)
|
rs138334226
|
|
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
|
|
|
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
|
|
|
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)
|
rs80338697
|
|
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
|
|
|
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
|
|
|
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)
|
|
|