Genename |
Variants |
ASCL1(NM_004316,achaete-scute complex homolog 1 (Drosophila),236aa) |
g.12:103352171_103352172insGCAGCAGCA,c.149_150insGCAGCAGCA,p.50ins3aa |
ASCL1(NM_004316,achaete-scute complex homolog 1 (Drosophila),236aa) |
g.12:103352171_103352172insGCA,c.149_150insGCA,p.50ins1aa |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101296389G>A,c.436C>T,p.L146F |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101253659T>C,c.899A>G,p.D300G |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101253658A>T,c.900T>A,p.D300E |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101248321T>C,c.982A>G,p.I328V |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101248182A>T,c.1121T>A,p.I374K |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101247393C>T,c.1183G>A,p.A395T |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101215022T>C,c.1595A>G,p.K532R |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101215020C>A,c.1596+1G>T,p.532Donor |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101127533del,c.2247del,p.749fs |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101103660G>C,c.2738C>G,p.A913G |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101098573T>C,c.3093A>G,p.I1031M |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101098518C>T,c.3148G>A,p.V1050I |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101094633T>C,c.3491A>G,p.H1164R |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:101075567C>T,c.4541G>A,p.R1514Q |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:100988112C>T,c.5702G>A,p.R1901Q |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:100966006C>T,c.5788G>A,p.V1930M |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:100964147G>C,c.5984C>G,p.S1995C |
ASCC3(NM_006828,activating signal cointegrator 1 complex subunit 3,2202aa) |
g.6:100957344T>C,c.6527A>G,p.Y2176C |
ASCC2(NM_032204,activating signal cointegrator 1 complex subunit 2,757aa) |
g.22:30221201G>A,c.286C>T,p.R96C |
ASCC2(NM_032204,activating signal cointegrator 1 complex subunit 2,757aa) |
g.22:30221120C>T,c.367G>A,p.V123I |
ASCC2(NM_032204,activating signal cointegrator 1 complex subunit 2,757aa) |
g.22:30200761C>G,c.1219G>C,p.D407H |
ASCC2(NM_032204,activating signal cointegrator 1 complex subunit 2,757aa) |
g.22:30200713G>A,c.1267C>T,p.P423S |
ASCC2(NM_032204,activating signal cointegrator 1 complex subunit 2,757aa) |
g.22:30198025C>T,c.1526G>A,p.R509Q |
ASCC2(NM_032204,activating signal cointegrator 1 complex subunit 2,757aa) |
g.22:30197083G>A,c.1585C>T,p.P529S |
ASCC2(NM_032204,activating signal cointegrator 1 complex subunit 2,757aa) |
g.22:30197031T>C,c.1637A>G,p.D546G |
ASCC2(NM_032204,activating signal cointegrator 1 complex subunit 2,757aa) |
g.22:30189643G>A,c.1711C>T,p.R571W |