| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.6866606G>A | CA337550906 | AMELY | c.574-528C>T (n.574-528C>T) c.616-528C>T (n.616-528C>T) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866606G= | CA2469903116 | AMELY | c.574-528C= (n.574-528C=) c.616-528C= (n.616-528C=) | |
| Y | g.6866622_6866626delinsTTCAA | CA2469903117 | AMELY | c.574-548_574-544delinsTTGAA (n.574-548_574-544delinsTTGAA) c.616-548_616-544delinsTTGAA (n.616-548_616-544delinsTTGAA) | |
| Y | g.6866628_6866631del | CA1138819608 | AMELY | c.574-548_574-545del (n.574-548_574-545del) c.616-548_616-545del (n.616-548_616-545del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866629A= | CA2469903118 | AMELY | c.574-551T= (n.574-551T=) c.616-551T= (n.616-551T=) | |
| Y | g.6866629A>C | CA1138819619 | AMELY | c.574-551T>G (n.574-551T>G) c.616-551T>G (n.616-551T>G) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866630A>T | CA2562405331 | AMELY | c.574-552T>A (n.574-552T>A) c.616-552T>A (n.616-552T>A) | |
| Y | g.6866636T>G | CA2557576122 | AMELY | c.574-558A>C (n.574-558A>C) c.616-558A>C (n.616-558A>C) | |
| Y | g.6866638dup | CA2569309195 | AMELY | c.574-558dup (n.574-558dup) c.616-558dup (n.616-558dup) | |
| Y | g.6866660_6866661insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT | CA1138819622 | AMELY | c.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA (n.574-558_574-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA) c.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA (n.616-558_616-557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA) | gnomAD v3 gnomAD v4 |
| Y | g.6866639_6866641del | CA1138819640 | AMELY | c.574-561_574-559del (n.574-561_574-559del) c.616-561_616-559del (n.616-561_616-559del) | gnomAD v3 gnomAD v4 |
| Y | g.6866639C= | CA2469903120 | AMELY | c.574-561G= (n.574-561G=) c.616-561G= (n.616-561G=) | |
| Y | g.6866639C>T | CA337550907 | AMELY | c.574-561G>A (n.574-561G>A) c.616-561G>A (n.616-561G>A) | dbSNP |
| Y | g.6866639_6866649delinsCTTTTTTTTTT | CA2469903119 | AMELY | c.574-571_574-561delinsAAAAAAAAAAG (n.574-571_574-561delinsAAAAAAAAAAG) c.616-571_616-561delinsAAAAAAAAAAG (n.616-571_616-561delinsAAAAAAAAAAG) | |
| Y | g.6866660_6866661insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138819708 | AMELY | c.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.574-562_574-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.616-562_616-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.616-562_616-561insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
| Y | g.6866660dup | CA337550908 | AMELY | c.574-562dup (n.574-562dup) c.616-562dup (n.616-562dup) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866659_6866660dup | CA1138819734 | AMELY | c.574-563_574-562dup (n.574-563_574-562dup) c.616-563_616-562dup (n.616-563_616-562dup) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866658_6866660dup | CA1138819731 | AMELY | c.574-564_574-562dup (n.574-564_574-562dup) c.616-564_616-562dup (n.616-564_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866657_6866660dup | CA1138819722 | AMELY | c.574-565_574-562dup (n.574-565_574-562dup) c.616-565_616-562dup (n.616-565_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866656_6866660dup | CA1138819716 | AMELY | c.574-566_574-562dup (n.574-566_574-562dup) c.616-566_616-562dup (n.616-566_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866655_6866660dup | CA1138819713 | AMELY | c.574-567_574-562dup (n.574-567_574-562dup) c.616-567_616-562dup (n.616-567_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866654_6866660dup | CA1138819753 | AMELY | c.574-568_574-562dup (n.574-568_574-562dup) c.616-568_616-562dup (n.616-568_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866653_6866660dup | CA1138819711 | AMELY | c.574-569_574-562dup (n.574-569_574-562dup) c.616-569_616-562dup (n.616-569_616-562dup) | gnomAD v3 gnomAD v4 |
| Y | g.6866660del | CA1138819692 | AMELY | c.574-562del (n.574-562del) c.616-562del (n.616-562del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866659_6866660del | CA1138819658 | AMELY | c.574-563_574-562del (n.574-563_574-562del) c.616-563_616-562del (n.616-563_616-562del) | gnomAD v3 gnomAD v4 |
| Y | g.6866658_6866660del | CA2553707643 | AMELY | c.574-564_574-562del (n.574-564_574-562del) c.616-564_616-562del (n.616-564_616-562del) | |
| Y | g.6866657_6866660del | CA2551998352 | AMELY | c.574-565_574-562del (n.574-565_574-562del) c.616-565_616-562del (n.616-565_616-562del) | dbSNP |
| Y | g.6866656_6866660del | CA2529024694 | AMELY | c.574-566_574-562del (n.574-566_574-562del) c.616-566_616-562del (n.616-566_616-562del) | |
| Y | g.6866655_6866660del | CA2543911235 | AMELY | c.574-567_574-562del (n.574-567_574-562del) c.616-567_616-562del (n.616-567_616-562del) | |
| Y | g.6866654_6866660del | CA2512417040 | AMELY | c.574-568_574-562del (n.574-568_574-562del) c.616-568_616-562del (n.616-568_616-562del) | |
| Y | g.6866653_6866660del | CA1138819673 | AMELY | c.574-569_574-562del (n.574-569_574-562del) c.616-569_616-562del (n.616-569_616-562del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866652_6866660del | CA1138819668 | AMELY | c.574-570_574-562del (n.574-570_574-562del) c.616-570_616-562del (n.616-570_616-562del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866651_6866660del | CA1138819662 | AMELY | c.574-571_574-562del (n.574-571_574-562del) c.616-571_616-562del (n.616-571_616-562del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866643T>C | CA1138819762 | AMELY | c.574-565A>G (n.574-565A>G) c.616-565A>G (n.616-565A>G) | gnomAD v3 gnomAD v4 |
| Y | g.6866644T>C | CA2589274503 | AMELY | c.574-566A>G (n.574-566A>G) c.616-566A>G (n.616-566A>G) | gnomAD v3 gnomAD v4 |
| Y | g.6866646T>C | CA2528002305 | AMELY | c.574-568A>G (n.574-568A>G) c.616-568A>G (n.616-568A>G) | |
| Y | g.6866648T>A | CA2513353509 | AMELY | c.574-570A>T (n.574-570A>T) c.616-570A>T (n.616-570A>T) | |
| Y | g.6866649_6866650insA | CA2569759048 | AMELY | c.574-572_574-571insT (n.574-572_574-571insT) c.616-572_616-571insT (n.616-572_616-571insT) | |
| Y | g.6866652T>A | CA2519493519 | AMELY | c.574-574A>T (n.574-574A>T) c.616-574A>T (n.616-574A>T) | |
| Y | g.6866653T>A | CA2508678439 | AMELY | c.574-575A>T (n.574-575A>T) c.616-575A>T (n.616-575A>T) | |
| Y | g.6866661G= | CA2469903121 | AMELY | c.574-583C= (n.574-583C=) c.616-583C= (n.616-583C=) | |
| Y | g.6866661G>T | CA2469903122 | AMELY | c.574-583C>A (n.574-583C>A) c.616-583C>A (n.616-583C>A) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6866662_6866663del | CA2520646126 | AMELY | c.574-584_574-583del (n.574-584_574-583del) c.616-584_616-583del (n.616-584_616-583del) | |
| Y | g.6866662_6866669del | CA1138819769 | AMELY | c.574-590_574-583del (n.574-590_574-583del) c.616-590_616-583del (n.616-590_616-583del) | gnomAD v3 gnomAD v4 |
| Y | g.6866662del | CA2522352508 | AMELY | c.574-584del (n.574-584del) c.616-584del (n.616-584del) | |
| Y | g.6866662A= | CA2469903123 | AMELY | c.574-584T= (n.574-584T=) c.616-584T= (n.616-584T=) | |
| Y | g.6866662A>G | CA2541913587 | AMELY | c.574-584T>C (n.574-584T>C) c.616-584T>C (n.616-584T>C) | |
| Y | g.6866662A>T | CA2469903124 | AMELY | c.574-584T>A (n.574-584T>A) c.616-584T>A (n.616-584T>A) | dbSNP |
| Y | g.6866662_6866663insTTT | CA2545639425 | AMELY | c.574-585_574-584insAAA (n.574-585_574-584insAAA) c.616-585_616-584insAAA (n.616-585_616-584insAAA) | |
| Y | g.6866663G>T | CA2532862097 | AMELY | c.574-585C>A (n.574-585C>A) c.616-585C>A (n.616-585C>A) |