NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
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.1335G>A (p.Thr445=)
|
rs146587686
|
0.00028
|
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)
|
rs139882548
|
0.00017
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
0.00016
|
NM_006363.6(SEC23B):c.*494T>C
|
rs561479544
|
0.00012
|
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
0.00012
|
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.2227C>T (p.Pro743Ser)
|
rs375734554
|
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.2143A>G (p.Ser715Gly)
|
rs777442287
|
0.00002
|
NM_006363.6(SEC23B):c.*32T>G
|
rs879811598
|
0.00001
|
NM_006363.6(SEC23B):c.*448C>T
|
rs550932027
|
0.00001
|
NM_006363.6(SEC23B):c.*561A>C
|
rs778992067
|
0.00001
|
NM_006363.6(SEC23B):c.1234-11A>G
|
rs187699090
|
0.00001
|
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)
|
rs767683935
|
0.00001
|
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)
|
rs201656419
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser)
|
rs150210442
|
0.00001
|
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)
|
rs900752773
|
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.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
NM_006363.6(SEC23B):c.221+3A>G
|
rs777858803
|
0.00001
|
NM_006363.6(SEC23B):c.236G>A (p.Arg79Gln)
|
rs370537015
|
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.(?_18516277)_(18516406_?)del
|
|
|
NM_006363.6(SEC23B):c.*178C>T
|
rs2060486772
|
|
NM_006363.6(SEC23B):c.*292T>G
|
rs886056526
|
|
NM_006363.6(SEC23B):c.*308A>G
|
rs2060487651
|
|
NM_006363.6(SEC23B):c.*493A>G
|
rs886056527
|
|
NM_006363.6(SEC23B):c.-14-1G>A
|
rs967988810
|
|
NM_006363.6(SEC23B):c.-8T>C
|
rs766083236
|
|
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.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
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.1512-16A>G
|
|
|
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
|
|
|
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
|
|
|
NM_006363.6(SEC23B):c.1607C>A (p.Ala536Glu)
|
rs535355543
|
|
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.202G>A (p.Ala68Thr)
|
rs2059977778
|
|
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.2244T>C (p.Asp748=)
|
rs748290215
|
|
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.5C>T (p.Ala2Val)
|
|
|
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.791G>A (p.Arg264Gln)
|
rs148239360
|
|
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile)
|
rs747388303
|
|
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
|
|
|
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
|
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)
|
|
|