Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.6866539A>G | CA1138819590 | AMELY | c.574-461T>C (n.574-461T>C) c.616-461T>C (n.616-461T>C) | gnomAD v3 gnomAD v4 |
Y | g.6866547A>G | CA1138819595 | AMELY | c.574-469T>C (n.574-469T>C) c.616-469T>C (n.616-469T>C) | gnomAD v3 gnomAD v4 |
Y | g.6866548T>C | CA337550904 | AMELY | c.574-470A>G (n.574-470A>G) c.616-470A>G (n.616-470A>G) | dbSNP |
Y | g.6866548T= | CA2469903112 | AMELY | c.574-470A= (n.574-470A=) c.616-470A= (n.616-470A=) | |
Y | g.6866559T>C | CA1138819597 | AMELY | c.574-481A>G (n.574-481A>G) c.616-481A>G (n.616-481A>G) | gnomAD v3 gnomAD v4 |
Y | g.6866561C>T | CA658587742 | AMELY | c.574-483G>A (n.574-483G>A) c.616-483G>A (n.616-483G>A) | COSMIC |
Y | g.6866563C= | CA2469903113 | AMELY | c.574-485G= (n.574-485G=) c.616-485G= (n.616-485G=) | |
Y | g.6866563C>T | CA337550905 | AMELY | c.574-485G>A (n.574-485G>A) c.616-485G>A (n.616-485G>A) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.6866574T>C | CA1138819606 | AMELY | c.574-496A>G (n.574-496A>G) c.616-496A>G (n.616-496A>G) | gnomAD v3 gnomAD v4 |
Y | g.6866585C= | CA2469903114 | AMELY | c.574-507G= (n.574-507G=) c.616-507G= (n.616-507G=) | |
Y | g.6866585C>G | CA2469903115 | AMELY | c.574-507G>C (n.574-507G>C) c.616-507G>C (n.616-507G>C) | dbSNP |
Y | g.6866601T>A | CA2824501730 | AMELY | c.574-523A>T (n.574-523A>T) c.616-523A>T (n.616-523A>T) | |
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.6866608C>A | CA2824501733 | AMELY | c.574-530G>T (n.574-530G>T) c.616-530G>T (n.616-530G>T) | |
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.6866624C>A | CA2824501734 | AMELY | c.574-546G>T (n.574-546G>T) c.616-546G>T (n.616-546G>T) | |
Y | g.6866624C>T | CA2824501735 | AMELY | c.574-546G>A (n.574-546G>A) c.616-546G>A (n.616-546G>A) | |
Y | g.6866628C>A | CA2824501737 | AMELY | c.574-550G>T (n.574-550G>T) c.616-550G>T (n.616-550G>T) | |
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>A | CA2824501738 | AMELY | c.574-561G>T (n.574-561G>T) c.616-561G>T (n.616-561G>T) | |
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) |