Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120442536T>C | CA870729186 | LAMP2 | c.928+63A>G (n.928+63A>G) c.471+63A>G | dbSNP gnomAD v4 |
X | g.120442536T>G | CA2694597874 | LAMP2 | c.928+63A>C (n.928+63A>C) c.471+63A>C | gnomAD v4 |
X | g.120442536T= | CA2454871174 | LAMP2 | c.928+63A= (n.928+63A=) c.471+63A= | |
X | g.120442538G>T | CA2694597875 | LAMP2 | c.928+61C>A (n.928+61C>A) c.471+61C>A | gnomAD v4 |
X | g.120442544T>G | CA335013152 | LAMP2 | c.928+55A>C (n.928+55A>C) c.471+55A>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442544T= | CA2454871175 | LAMP2 | c.928+55A= (n.928+55A=) c.471+55A= | |
X | g.120442548del | CA2579692117 | LAMP2 | c.928+52del (n.928+52del) c.471+52del | |
X | g.120442549T>C | CA1136814548 | LAMP2 | c.928+50A>G (n.928+50A>G) c.471+50A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442549T= | CA2454871176 | LAMP2 | c.928+50A= (n.928+50A=) c.471+50A= | |
X | g.120442552T>C | CA2454871178 | LAMP2 | c.928+47A>G (n.928+47A>G) c.471+47A>G | dbSNP |
X | g.120442552T= | CA2454871177 | LAMP2 | c.928+47A= (n.928+47A=) c.471+47A= | |
X | g.120442553T>A | CA2694597876 | LAMP2 | c.928+46A>T (n.928+46A>T) c.471+46A>T | gnomAD v4 |
X | g.120442556G>A | CA2579692118 | LAMP2 | c.928+43C>T (n.928+43C>T) c.471+43C>T | |
X | g.120442556G>T | CA2694597877 | LAMP2 | c.928+43C>A (n.928+43C>A) c.471+43C>A | gnomAD v4 |
X | g.120442557G>A | CA2454871180 | LAMP2 | c.928+42C>T (n.928+42C>T) c.471+42C>T | dbSNP gnomAD v4 |
X | g.120442557G= | CA2454871179 | LAMP2 | c.928+42C= (n.928+42C=) c.471+42C= | |
X | g.120442557G>T | CA2694597878 | LAMP2 | c.928+42C>A (n.928+42C>A) c.471+42C>A | gnomAD v4 |
X | g.120442558G>A | CA2694597879 | LAMP2 | c.928+41C>T (n.928+41C>T) c.471+41C>T | gnomAD v4 |
X | g.120442558G>C | CA2694597880 | LAMP2 | c.928+41C>G (n.928+41C>G) c.471+41C>G | gnomAD v4 |
X | g.120442558G>T | CA2694597881 | LAMP2 | c.928+41C>A (n.928+41C>A) c.471+41C>A | gnomAD v4 |
X | g.120442559T>C | CA2694597882 | LAMP2 | c.928+40A>G (n.928+40A>G) c.471+40A>G | gnomAD v4 |
X | g.120442561dup | CA2579692119 | LAMP2 | c.928+39dup (n.928+39dup) c.471+39dup | |
X | g.120442561A>G | CA2694597883 | LAMP2 | c.928+38T>C (n.928+38T>C) c.471+38T>C | gnomAD v4 |
X | g.120442561A>T | CA2579692120 | LAMP2 | c.928+38T>A (n.928+38T>A) c.471+38T>A | gnomAD v4 |
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 |