NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)
|
rs507329
|
0.99944
|
NM_030928.4(CDT1):c.915T>C (p.His305=)
|
rs510862
|
0.83978
|
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala)
|
rs480727
|
0.49695
|
NM_030928.4(CDT1):c.1587C>G (p.Leu529=)
|
rs572275
|
0.47081
|
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser)
|
rs145552478
|
0.00292
|
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)
|
rs141663679
|
0.00207
|
NM_030928.4(CDT1):c.1154G>A (p.Arg385His)
|
rs143840572
|
0.00019
|
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp)
|
rs200672589
|
0.00011
|
NM_030928.4(CDT1):c.748C>T (p.Arg250Cys)
|
rs199723040
|
0.00011
|
NM_030928.4(CDT1):c.999G>A (p.Pro333=)
|
rs202026460
|
0.00010
|
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys)
|
rs200652608
|
0.00006
|
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)
|
rs387906917
|
0.00005
|
NM_030928.4(CDT1):c.1125G>A (p.Met375Ile)
|
rs779105998
|
0.00001
|
NM_030928.4(CDT1):c.196G>A (p.Ala66Thr)
|
rs387906918
|
0.00001
|
NM_030928.4(CDT1):c.1078_1080del (p.Ala360del)
|
rs1567502140
|
|
NM_030928.4(CDT1):c.1276-24A>G
|
rs2142945856
|
|
NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter)
|
rs147914553
|
|
NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)
|
|
|
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu)
|
rs139038990
|
|
NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)
|
|
|
NM_030928.4(CDT1):c.351G>C (p.Gln117His)
|
rs779871947
|
|
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
|
|
|
NM_030928.4(CDT1):c.802C>T (p.Gln268Ter)
|
rs776483689
|
|
NM_030928.4(CDT1):c.832+1G>A
|
rs587780305
|
|