|
NM_001346468.2(ANO10):c.-11-16174G>A
|
rs886058485 |
|
NM_006946.3(SPTBN2):c.2162G>A (p.Arg721His)
|
rs200016211 |
|
NM_006946.3(SPTBN2):c.3430C>T (p.Arg1144Ter)
|
rs1402216317 |
|
NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln)
|
rs558572111 |
|
NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg)
|
rs190532690 |
|
NM_018075.5(ANO10):c.*464C>T
|
rs886058475 |
|
NM_018075.5(ANO10):c.*74dup
|
rs556549778 |
|
NM_018075.5(ANO10):c.-95del
|
rs886058483 |
|
NM_018075.5(ANO10):c.1294-3del
|
rs778730043 |
|
NM_018319.4(TDP1):c.-232A>C
|
rs886050882 |
|
NM_020247.4(COQ8A):c.-137C>A
|
rs557786445 |
|
NM_020247.5(COQ8A):c.*150C>T
|
rs755137919 |
|
NM_020247.5(COQ8A):c.*22C>T
|
rs374941896 |
|
NM_020247.5(COQ8A):c.*252A>C
|
rs886046070 |
|
NM_020247.5(COQ8A):c.*326C>G
|
rs886046071 |
|
NM_020247.5(COQ8A):c.*349G>A
|
rs113041399 |
|
NM_020247.5(COQ8A):c.*570T>C
|
rs778729725 |
|
NM_020247.5(COQ8A):c.*693G>T
|
rs886046074 |
|
NM_020247.5(COQ8A):c.-113A>G
|
rs886046063 |
|
NM_020247.5(COQ8A):c.1163-10C>T
|
rs886046067 |
|
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)
|
rs139133094 |
|
NM_020247.5(COQ8A):c.1399-13G>A
|
rs73087649 |
|
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)
|
rs141423403 |
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727 |
|
NM_020247.5(COQ8A):c.1800C>T (p.Val600=)
|
rs74589348 |
|
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)
|
rs111529228 |
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405 |
|
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)
|
rs760566419 |
|
NM_020247.5(COQ8A):c.687G>A (p.Leu229=)
|
rs752409331 |
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712 |
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527 |
|
NM_021830.5(TWNK):c.*234T>G
|
rs886046633 |
|
NM_021830.5(TWNK):c.*248G>A
|
|
|
NM_021830.5(TWNK):c.*301C>T
|
rs41291468 |
|
NM_021830.5(TWNK):c.*341G>A
|
|
|
NM_021830.5(TWNK):c.*346A>C
|
|
|
NM_021830.5(TWNK):c.*367A>G
|
rs62626296 |
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791 |
|
NM_021830.5(TWNK):c.*438G>C
|
rs886046634 |
|
NM_021830.5(TWNK):c.*453G>A
|
|
|
NM_021830.5(TWNK):c.*552G>C
|
|
|
NM_021830.5(TWNK):c.*555G>A
|
rs886046635 |
|
NM_021830.5(TWNK):c.*561C>T
|
|
|
NM_021830.5(TWNK):c.*574C>T
|
rs886046636 |
|
NM_021830.5(TWNK):c.*619G>A
|
rs886046637 |
|
NM_021830.5(TWNK):c.*709C>G
|
rs41291470 |
|
NM_021830.5(TWNK):c.*747C>G
|
rs886046638 |
|
NM_021830.5(TWNK):c.*763T>C
|
rs886046639 |
|
NM_021830.5(TWNK):c.*769G>A
|
|
|
NM_021830.5(TWNK):c.*803A>G
|
rs886046640 |
|
NM_021830.5(TWNK):c.-105T>C
|
rs886046629 |
|
NM_021830.5(TWNK):c.-290G>C
|
rs62626270 |
|
NM_021830.5(TWNK):c.-304G>A
|
|
|
NM_021830.5(TWNK):c.-418C>T
|
|
|
NM_021830.5(TWNK):c.-423C>T
|
rs886046627 |
|
NM_021830.5(TWNK):c.-470G>A
|
rs886046626 |
|
NM_021830.5(TWNK):c.-549G>A
|
rs886046625 |
|
NM_021830.5(TWNK):c.-584G>C
|
|
|
NM_021830.5(TWNK):c.-585T>G
|
rs886046624 |
|
NM_021830.5(TWNK):c.-592C>T
|
|
|
NM_021830.5(TWNK):c.-622C>T
|
|
|
NM_021830.5(TWNK):c.-644A>T
|
rs886046623 |
|
NM_021830.5(TWNK):c.-650A>G
|
rs187213541 |
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271 |
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634 |
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080 |
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921 |
|
NM_021830.5(TWNK):c.1244-14C>T
|
rs758757135 |
|
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)
|
rs549767223 |
|
NM_021830.5(TWNK):c.1572C>T (p.His524=)
|
|
|
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
|
|
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072 |
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810 |
|
NM_021830.5(TWNK):c.1735-14C>A
|
rs201795189 |
|
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
|
|
|
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)
|
rs886046632 |
|
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
|
|
|
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
|
|
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108 |
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752 |
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570 |
|
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser)
|
rs886046630 |
|
NM_021830.5(TWNK):c.276C>T (p.Gly92=)
|
rs886046631 |
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280 |
|
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
|
rs775463083 |
|
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)
|
rs767175342 |
|
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)
|
|
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130 |
|
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
|
|
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883 |
|
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)
|
rs772221026 |
|
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)
|
|
|
NM_021830.5(TWNK):c.922T>C (p.Leu308=)
|
rs754389465 |