|
NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=)
|
rs143083152 |
|
NM_018075.5(ANO10):c.*196C>A
|
rs73831274 |
|
NM_018075.5(ANO10):c.*246A>G
|
rs73831273 |
|
NM_018075.5(ANO10):c.*432G>T
|
rs17075612 |
|
NM_018075.5(ANO10):c.*444C>T
|
rs114518528 |
|
NM_018075.5(ANO10):c.-90C>T
|
rs565644253 |
|
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)
|
rs56389778 |
|
NM_018075.5(ANO10):c.1477-14G>A
|
rs78884042 |
|
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)
|
rs17409162 |
|
NM_018075.5(ANO10):c.486C>T (p.Leu162=)
|
rs34829628 |
|
NM_018075.5(ANO10):c.627T>C (p.Ala209=)
|
rs61742945 |
|
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro)
|
rs112040665 |
|
NM_018319.4(TDP1):c.*1448G>A
|
rs34004710 |
|
NM_018319.4(TDP1):c.*1452C>T
|
rs34923595 |
|
NM_018319.4(TDP1):c.*1460C>G
|
rs35944390 |
|
NM_018319.4(TDP1):c.*393T>C
|
rs7150480 |
|
NM_018319.4(TDP1):c.*539G>A
|
rs35090050 |
|
NM_018319.4(TDP1):c.*799A>G
|
rs35437984 |
|
NM_018319.4(TDP1):c.*89_*90dup
|
rs397721425 |
|
NM_018319.4(TDP1):c.-177C>T
|
rs35132667 |
|
NM_018319.4(TDP1):c.-224A>G
|
rs35439694 |
|
NM_018319.4(TDP1):c.-230-4G>T
|
rs28365053 |
|
NM_018319.4(TDP1):c.1077A>G (p.Pro359=)
|
rs17126522 |
|
NM_018319.4(TDP1):c.1098A>G (p.Gln366=)
|
rs34563565 |
|
NM_018319.4(TDP1):c.1107T>C (p.Asn369=)
|
rs10151377 |
|
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)
|
rs35455108 |
|
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)
|
rs34452707 |
|
NM_020247.5(COQ8A):c.*133G>A
|
rs149820067 |
|
NM_020247.5(COQ8A):c.*230G>A
|
rs117808661 |
|
NM_020247.5(COQ8A):c.*681G>A
|
rs10482 |
|
NM_020247.5(COQ8A):c.*790A>G
|
rs12565212 |
|
NM_020247.5(COQ8A):c.-10+8T>C
|
rs145688619 |
|
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)
|
rs55958233 |
|
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=)
|
rs56043893 |
|
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)
|
rs76249490 |
|
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)
|
rs2297411 |
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129 |
|
NM_021830.5(TWNK):c.*204G>A
|
rs61871507 |
|
NM_021830.5(TWNK):c.*301C>T
|
rs41291468 |
|
NM_021830.5(TWNK):c.*367A>G
|
rs62626296 |
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791 |
|
NM_021830.5(TWNK):c.*455C>T
|
rs148810959 |
|
NM_021830.5(TWNK):c.*472_*473GA[2]
|
rs370783985 |
|
NM_021830.5(TWNK):c.-241C>T
|
rs113159821 |
|
NM_021830.5(TWNK):c.-290G>C
|
rs62626270 |
|
NM_021830.5(TWNK):c.-306_-305GT[1]
|
rs146265037 |
|
NM_021830.5(TWNK):c.-650A>G
|
rs187213541 |
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080 |
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621 |
|
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)
|
rs549767223 |
|
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)
|
rs62626272 |
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810 |
|
NM_021830.5(TWNK):c.1735-14C>A
|
rs201795189 |
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752 |
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258 |
|
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
|
rs775463083 |
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130 |
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883 |