Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120442499G>T | CA2694597858 | LAMP2 | c.928+100C>A (n.928+100C>A) c.471+100C>A | gnomAD v4 |
X | g.120442500T>C | CA2694597859 | LAMP2 | c.928+99A>G (n.928+99A>G) c.471+99A>G | gnomAD v4 |
X | g.120442501T>C | CA2694597860 | LAMP2 | c.928+98A>G (n.928+98A>G) c.471+98A>G | gnomAD v4 |
X | g.120442503C= | CA2454871162 | LAMP2 | c.928+96G= (n.928+96G=) c.471+96G= | |
X | g.120442503C>T | CA2454871161 | LAMP2 | c.928+96G>A (n.928+96G>A) c.471+96G>A | dbSNP |
X | g.120442504A>G | CA2694597861 | LAMP2 | c.928+95T>C (n.928+95T>C) c.471+95T>C | gnomAD v4 |
X | g.120442505T>A | CA644130767 | LAMP2 | c.928+94A>T (n.928+94A>T) c.471+94A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442505T>C | CA2694597862 | LAMP2 | c.928+94A>G (n.928+94A>G) c.471+94A>G | gnomAD v4 |
X | g.120442505T= | CA2454871163 | LAMP2 | c.928+94A= (n.928+94A=) c.471+94A= | |
X | g.120442507A>T | CA2579692107 | LAMP2 | c.928+92T>A (n.928+92T>A) c.471+92T>A | gnomAD v4 |
X | g.120442508A>G | CA2504423803 | LAMP2 | c.928+91T>C (n.928+91T>C) c.471+91T>C | |
X | g.120442510T>C | CA2454871165 | LAMP2 | c.928+89A>G (n.928+89A>G) c.471+89A>G | dbSNP gnomAD v4 |
X | g.120442510T= | CA2454871164 | LAMP2 | c.928+89A= (n.928+89A=) c.471+89A= | |
X | g.120442511A>G | CA2694597863 | LAMP2 | c.928+88T>C (n.928+88T>C) c.471+88T>C | gnomAD v4 |
X | g.120442513G>T | CA2579692108 | LAMP2 | c.928+86C>A (n.928+86C>A) c.471+86C>A | gnomAD v4 |
X | g.120442514G>A | CA2694597864 | LAMP2 | c.928+85C>T (n.928+85C>T) c.471+85C>T | gnomAD v4 |
X | g.120442514G>C | CA2694597865 | LAMP2 | c.928+85C>G (n.928+85C>G) c.471+85C>G | gnomAD v4 |
X | g.120442514G>T | CA2694597866 | LAMP2 | c.928+85C>A (n.928+85C>A) c.471+85C>A | gnomAD v4 |
X | g.120442515C>A | CA2694597867 | LAMP2 | c.928+84G>T (n.928+84G>T) c.471+84G>T | gnomAD v4 |
X | g.120442515C= | CA2454871166 | LAMP2 | c.928+84G= (n.928+84G=) c.471+84G= | |
X | g.120442515C>T | CA2454871167 | LAMP2 | c.928+84G>A (n.928+84G>A) c.471+84G>A | dbSNP |
X | g.120442516A>G | CA2694597868 | LAMP2 | c.928+83T>C (n.928+83T>C) c.471+83T>C | gnomAD v4 |
X | g.120442517C>A | CA335013150 | LAMP2 | c.928+82G>T (n.928+82G>T) c.471+82G>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442517C= | CA2454871168 | LAMP2 | c.928+82G= (n.928+82G=) c.471+82G= | |
X | g.120442517C>T | CA2579692109 | LAMP2 | c.928+82G>A (n.928+82G>A) c.471+82G>A | |
X | g.120442520T>C | CA2694597869 | LAMP2 | c.928+79A>G (n.928+79A>G) c.471+79A>G | gnomAD v4 |
X | g.120442522T>G | CA335013151 | LAMP2 | c.928+77A>C (n.928+77A>C) c.471+77A>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442522T= | CA2454871169 | LAMP2 | c.928+77A= (n.928+77A=) c.471+77A= | |
X | g.120442523G>T | CA2579692110 | LAMP2 | c.928+76C>A (n.928+76C>A) c.471+76C>A | gnomAD v4 |
X | g.120442524G>A | CA2579692111 | LAMP2 | c.928+75C>T (n.928+75C>T) c.471+75C>T | |
X | g.120442524G>T | CA2694597870 | LAMP2 | c.928+75C>A (n.928+75C>A) c.471+75C>A | gnomAD v4 |
X | g.120442525T>G | CA2579692112 | LAMP2 | c.928+74A>C (n.928+74A>C) c.471+74A>C | |
X | g.120442526A>T | CA2694597871 | LAMP2 | c.928+73T>A (n.928+73T>A) c.471+73T>A | gnomAD v4 |
X | g.120442528T>A | CA2694597872 | LAMP2 | c.928+71A>T (n.928+71A>T) c.471+71A>T | gnomAD v4 |
X | g.120442529A= | CA2454871170 | LAMP2 | c.928+70T= (n.928+70T=) c.471+70T= | |
X | g.120442529A>G | CA1136814540 | LAMP2 | c.928+70T>C (n.928+70T>C) c.471+70T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442530del | CA2579692113 | LAMP2 | c.928+70del (n.928+70del) c.471+70del | |
X | g.120442531G>A | CA870729182 | LAMP2 | c.928+68C>T (n.928+68C>T) c.471+68C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442531G= | CA2454871171 | LAMP2 | c.928+68C= (n.928+68C=) c.471+68C= | |
X | g.120442531G>T | CA2694597873 | LAMP2 | c.928+68C>A (n.928+68C>A) c.471+68C>A | gnomAD v4 |
X | g.120442532A>T | CA2579692114 | LAMP2 | c.928+67T>A (n.928+67T>A) c.471+67T>A | |
X | g.120442534C>G | CA2579692115 | LAMP2 | c.928+65G>C (n.928+65G>C) c.471+65G>C | gnomAD v4 |
X | g.120442534C>T | CA2579692116 | LAMP2 | c.928+65G>A (n.928+65G>A) c.471+65G>A | |
X | g.120442535A= | CA2454871172 | LAMP2 | c.928+64T= (n.928+64T=) c.471+64T= | |
X | g.120442535A>G | CA2454871173 | LAMP2 | c.928+64T>C (n.928+64T>C) c.471+64T>C | dbSNP gnomAD v4 |
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 |