NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00046
|
NM_006363.6(SEC23B):c.1233+4C>T
|
rs201883785
|
0.00040
|
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)
|
rs201160833
|
0.00028
|
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp)
|
rs147135162
|
0.00007
|
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp)
|
rs759146033
|
0.00005
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn)
|
rs763130110
|
0.00004
|
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser)
|
rs778348206
|
0.00003
|
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)
|
rs752037101
|
0.00002
|
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His)
|
rs757662443
|
0.00002
|
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
|
rs752664090
|
0.00002
|
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser)
|
rs150210442
|
0.00001
|
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile)
|
rs757801115
|
0.00001
|
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys)
|
rs768018657
|
0.00001
|
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val)
|
rs755836066
|
0.00001
|
NM_006363.6(SEC23B):c.221+3A>G
|
rs777858803
|
0.00001
|
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val)
|
rs754320262
|
0.00001
|
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
|
rs1363436677
|
0.00001
|
NC_000020.10:g.(?_18449649)_(18541384_?)dup
|
|
|
NC_000020.10:g.(?_18516277)_(18516406_?)del
|
|
|
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
|
|
|
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)
|
rs2060144762
|
|
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
|
|
|
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
|
|
|
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
|
|
|
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
|
|
|
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
|
|
|
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu)
|
rs752548887
|
|
NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)
|
|
|
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
|
|
|
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
|
|
|
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
|
|
|
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
|
|
|
NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu)
|
|
|
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
|
|
|
NM_006363.6(SEC23B):c.1665+4A>G
|
|
|
NM_006363.6(SEC23B):c.1666-3T>C
|
|
|
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
|
|
|
NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu)
|
|
|
NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)
|
|
|
NM_006363.6(SEC23B):c.211A>C (p.Asn71His)
|
rs2059977897
|
|
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn)
|
rs2122200225
|
|
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
|
|
|
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
|
|
|
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
|
|
|
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
|
|
|
NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)
|
|
|
NM_006363.6(SEC23B):c.546A>T (p.Gly182=)
|
rs1347919581
|
|
NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
|
|
|
NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)
|
|
|
NM_006363.6(SEC23B):c.631A>G (p.Met211Val)
|
|
|
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)
|
rs748683327
|
|
NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
|
|
|
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
|
rs761034212
|
|
NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
|
|
|
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile)
|
rs747388303
|
|
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
|
|
|
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)
|
|
|