Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120442564del | CA2694597884 | LAMP2 | c.928+36del (n.928+36del) c.471+36del | gnomAD v4 |
X | g.120442566_120442567del | CA2694597885 | LAMP2 | c.928+34_928+35del (n.928+34_928+35del) c.471+34_471+35del | gnomAD v4 |
X | g.120442565A>T | CA2579692121 | LAMP2 | c.928+34T>A (n.928+34T>A) c.471+34T>A | |
X | g.120442566C>G | CA2694597886 | LAMP2 | c.928+33G>C (n.928+33G>C) c.471+33G>C | gnomAD v4 |
X | g.120442566C>T | CA2579692122 | LAMP2 | c.928+33G>A (n.928+33G>A) c.471+33G>A | gnomAD v4 |
X | g.120442567A>G | CA2694597887 | LAMP2 | c.928+32T>C (n.928+32T>C) c.471+32T>C | gnomAD v4 |
X | g.120442568G>C | CA10505226 | LAMP2 | c.928+31C>G (n.928+31C>G) c.471+31C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442568G= | CA2454871181 | LAMP2 | c.928+31C= (n.928+31C=) c.471+31C= | |
X | g.120442568G>T | CA2694597888 | LAMP2 | c.928+31C>A (n.928+31C>A) c.471+31C>A | gnomAD v4 |
X | g.120442569T>C | CA2694597889 | LAMP2 | c.928+30A>G (n.928+30A>G) c.471+30A>G | gnomAD v4 |
X | g.120442570C>A | CA10505227 | LAMP2 | c.928+29G>T (n.928+29G>T) c.471+29G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442570C= | CA2454871182 | LAMP2 | c.928+29G= (n.928+29G=) c.471+29G= | |
X | g.120442570C>T | CA2694597890 | LAMP2 | c.928+29G>A (n.928+29G>A) c.471+29G>A | gnomAD v4 |
X | g.120442570_120442572delinsCTT | CA2454871183 | LAMP2 | c.928+27_928+29delinsAAG (n.928+27_928+29delinsAAG) c.471+27_471+29delinsAAG | |
X | g.120442571T>C | CA2694597891 | LAMP2 | c.928+28A>G (n.928+28A>G) c.471+28A>G | gnomAD v4 |
X | g.120442575del | CA2579692123 | LAMP2 | c.928+28del (n.928+28del) c.471+28del | gnomAD v4 |
X | g.120442574_120442575del | CA10505228 | LAMP2 | c.928+27_928+28del (n.928+27_928+28del) c.471+27_471+28del | dbSNP ExAC |
X | g.120442573T>C | CA10505229 | LAMP2 | c.928+26A>G (n.928+26A>G) c.471+26A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120442573T= | CA2454871184 | LAMP2 | c.928+26A= (n.928+26A=) c.471+26A= | |
X | g.120442574T>C | CA2694597892 | LAMP2 | c.928+25A>G (n.928+25A>G) c.471+25A>G | gnomAD v4 |
X | g.120442575T>A | CA2694597893 | LAMP2 | c.928+24A>T (n.928+24A>T) c.471+24A>T | gnomAD v4 |
X | g.120442575T>C | CA2694597894 | LAMP2 | c.928+24A>G (n.928+24A>G) c.471+24A>G | gnomAD v4 |
X | g.120442576C>T | CA2694597895 | LAMP2 | c.928+23G>A (n.928+23G>A) c.471+23G>A | gnomAD v4 |
X | g.120442579del | CA2579692125 | LAMP2 | c.928+23del (n.928+23del) c.471+23del | gnomAD v4 |
X | g.120442578_120442579del | CA2579692124 | LAMP2 | c.928+22_928+23del (n.928+22_928+23del) c.471+22_471+23del | |
X | g.120442577C>A | CA1136814554 | LAMP2 | c.928+22G>T (n.928+22G>T) c.471+22G>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442577C= | CA2454871185 | LAMP2 | c.928+22G= (n.928+22G=) c.471+22G= | |
X | g.120442577C>T | CA2694597896 | LAMP2 | c.928+22G>A (n.928+22G>A) c.471+22G>A | gnomAD v4 |
X | g.120442578C>G | CA2694597897 | LAMP2 | c.928+21G>C (n.928+21G>C) c.471+21G>C | gnomAD v4 |
X | g.120442578C>T | CA2694597898 | LAMP2 | c.928+21G>A (n.928+21G>A) c.471+21G>A | gnomAD v4 |
X | g.120442579C>A | CA2579692126 | LAMP2 | c.928+20G>T (n.928+20G>T) c.471+20G>T | |
X | g.120442579C>T | CA2694597899 | LAMP2 | c.928+20G>A (n.928+20G>A) c.471+20G>A | gnomAD v4 |
X | g.120442580A>G | CA2694597900 | LAMP2 | c.928+19T>C (n.928+19T>C) c.471+19T>C | gnomAD v4 |
X | g.120442581G>A | CA2739273744 | LAMP2 | c.928+18C>T (n.928+18C>T) c.471+18C>T | ClinVar |
X | g.120442581G>T | CA2579692127 | LAMP2 | c.928+18C>A (n.928+18C>A) c.471+18C>A | gnomAD v4 |
X | g.120442582G>A | CA2694597901 | LAMP2 | c.928+17C>T (n.928+17C>T) c.471+17C>T | gnomAD v4 |
X | g.120442582G>T | CA2694597902 | LAMP2 | c.928+17C>A (n.928+17C>A) c.471+17C>A | gnomAD v4 |
X | g.120442583C>T | CA2694597903 | LAMP2 | c.928+16G>A (n.928+16G>A) c.471+16G>A | gnomAD v4 |
X | g.120442584C>T | CA2694597904 | LAMP2 | c.928+15G>A (n.928+15G>A) c.471+15G>A | gnomAD v4 |
X | g.120442585A>G | CA2554005660 | LAMP2 | c.928+14T>C (n.928+14T>C) c.471+14T>C | gnomAD v4 |
X | g.120442585A>T | CA2694597905 | LAMP2 | c.928+14T>A (n.928+14T>A) c.471+14T>A | gnomAD v4 |
X | g.120442586G>T | CA2694597906 | LAMP2 | c.928+13C>A (n.928+13C>A) c.471+13C>A | gnomAD v4 |
X | g.120442587T>C | CA2694597907 | LAMP2 | c.928+12A>G (n.928+12A>G) c.471+12A>G | gnomAD v4 |
X | g.120442588G>A | CA1136814557 | LAMP2 | c.928+11C>T (n.928+11C>T) c.471+11C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.120442588G= | CA2454871186 | LAMP2 | c.928+11C= (n.928+11C=) c.471+11C= | |
X | g.120442588G>T | CA2694597908 | LAMP2 | c.928+11C>A (n.928+11C>A) c.471+11C>A | gnomAD v4 |
X | g.120442589C>T | CA2694597909 | LAMP2 | c.928+10G>A (n.928+10G>A) c.471+10G>A | gnomAD v4 |
X | g.120442590T>C | CA2694597910 | LAMP2 | c.928+9A>G (n.928+9A>G) c.471+9A>G | gnomAD v4 |
X | g.120442591T>A | CA2522877580 | LAMP2 | c.928+8A>T (n.928+8A>T) c.471+8A>T | ClinVar gnomAD v4 |
X | g.120442592T>C | CA2694597911 | LAMP2 | c.928+7A>G (n.928+7A>G) c.471+7A>G | gnomAD v4 |