NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=)
|
rs2919359
|
0.86820
|
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val)
|
rs2919358
|
0.46622
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr)
|
rs28763868
|
0.08132
|
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs)
|
rs1559207733
|
0.00001
|
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg)
|
rs1057518493
|
|
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)
|
rs1571892196
|
|
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg)
|
rs1571893885
|
|
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met)
|
rs2102736219
|
|
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys)
|
rs1571892988
|
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001164508.2(NEB):c.20467-2A>C
|
rs1392500142
|
|
NM_001164508.2(NEB):c.22272+2dup
|
rs773465809
|
|
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)
|
rs1576203853
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23847del (p.Glu7950fs)
|
rs1575305566
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170
|
|
NM_001164508.2(NEB):c.870_873del (p.Ser290fs)
|
rs2150050727
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn)
|
rs1553251644
|
|
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)
|
rs1571456678
|
|