| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120442454G>T | CA2694597842 | LAMP2 | c.928+145C>A (n.928+145C>A) c.471+145C>A | gnomAD v4 |
| X | g.120442455A>G | CA2694597843 | LAMP2 | c.928+144T>C (n.928+144T>C) c.471+144T>C | gnomAD v4 |
| X | g.120442459del | CA2823249048 | LAMP2 | c.928+143del (n.928+143del) c.471+143del | |
| X | g.120442458T>A | CA1136814522 | LAMP2 | c.928+141A>T (n.928+141A>T) c.471+141A>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442458T= | CA2454871141 | LAMP2 | c.928+141A= (n.928+141A=) c.471+141A= | |
| X | g.120442461A= | CA2454871143 | LAMP2 | c.928+138T= (n.928+138T=) c.471+138T= | |
| X | g.120442461A>G | CA2454871142 | LAMP2 | c.928+138T>C (n.928+138T>C) c.471+138T>C | dbSNP gnomAD v4 |
| X | g.120442462G>A | CA870729161 | LAMP2 | c.928+137C>T (n.928+137C>T) c.471+137C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442462G= | CA2454871144 | LAMP2 | c.928+137C= (n.928+137C=) c.471+137C= | |
| X | g.120442462G>T | CA2694597844 | LAMP2 | c.928+137C>A (n.928+137C>A) c.471+137C>A | gnomAD v4 |
| X | g.120442463G= | CA2454871145 | LAMP2 | c.928+136C= (n.928+136C=) c.471+136C= | |
| X | g.120442463G>T | CA335013145 | LAMP2 | c.928+136C>A (n.928+136C>A) c.471+136C>A | dbSNP gnomAD v4 |
| X | g.120442465A>C | CA2694597845 | LAMP2 | c.928+134T>G (n.928+134T>G) c.471+134T>G | gnomAD v4 |
| X | g.120442465A>G | CA2694597846 | LAMP2 | c.928+134T>C (n.928+134T>C) c.471+134T>C | gnomAD v4 |
| X | g.120442467G>T | CA2694597847 | LAMP2 | c.928+132C>A (n.928+132C>A) c.471+132C>A | gnomAD v4 |
| X | g.120442468A>C | CA2694597848 | LAMP2 | c.928+131T>G (n.928+131T>G) c.471+131T>G | gnomAD v4 |
| X | g.120442470C>A | CA2694597849 | LAMP2 | c.928+129G>T (n.928+129G>T) c.471+129G>T | gnomAD v4 |
| X | g.120442472A= | CA2454871146 | LAMP2 | c.928+127T= (n.928+127T=) c.471+127T= | |
| X | g.120442472A>G | CA644130766 | LAMP2 | c.928+127T>C (n.928+127T>C) c.471+127T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442472A>T | CA2694597850 | LAMP2 | c.928+127T>A (n.928+127T>A) c.471+127T>A | gnomAD v4 |
| X | g.120442473G>T | CA2694597851 | LAMP2 | c.928+126C>A (n.928+126C>A) c.471+126C>A | gnomAD v4 |
| X | g.120442474G= | CA2454871147 | LAMP2 | c.928+125C= (n.928+125C=) c.471+125C= | |
| X | g.120442474G>T | CA335013146 | LAMP2 | c.928+125C>A (n.928+125C>A) c.471+125C>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442475T>C | CA335013147 | LAMP2 | c.928+124A>G (n.928+124A>G) c.471+124A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120442475T= | CA2454871148 | LAMP2 | c.928+124A= (n.928+124A=) c.471+124A= | |
| X | g.120442476A= | CA2454871149 | LAMP2 | c.928+123T= (n.928+123T=) c.471+123T= | |
| X | g.120442476A>G | CA1136814528 | LAMP2 | c.928+123T>C (n.928+123T>C) c.471+123T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442477C= | CA2454871150 | LAMP2 | c.928+122G= (n.928+122G=) c.471+122G= | |
| X | g.120442477C>G | CA2454871151 | LAMP2 | c.928+122G>C (n.928+122G>C) c.471+122G>C | dbSNP |
| X | g.120442478A>C | CA2694597852 | LAMP2 | c.928+121T>G (n.928+121T>G) c.471+121T>G | gnomAD v4 |
| X | g.120442478A>G | CA2694597853 | LAMP2 | c.928+121T>C (n.928+121T>C) c.471+121T>C | gnomAD v4 |
| X | g.120442478_120442479delinsAC | CA2454871152 | LAMP2 | c.928+120_928+121delinsGT (n.928+120_928+121delinsGT) c.471+120_471+121delinsGT | |
| X | g.120442479del | CA335013148 | LAMP2 | c.928+120del (n.928+120del) c.471+120del | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442484del | CA2823249057 | LAMP2 | c.928+119del (n.928+119del) c.471+119del | |
| X | g.120442486C= | CA2454871153 | LAMP2 | c.928+113G= (n.928+113G=) c.471+113G= | |
| X | g.120442486C>T | CA870729171 | LAMP2 | c.928+113G>A (n.928+113G>A) c.471+113G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442487A= | CA2454871154 | LAMP2 | c.928+112T= (n.928+112T=) c.471+112T= | |
| X | g.120442487A>G | CA1136814531 | LAMP2 | c.928+112T>C (n.928+112T>C) c.471+112T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442488T>A | CA2454871156 | LAMP2 | c.928+111A>T (n.928+111A>T) c.471+111A>T | dbSNP gnomAD v4 |
| X | g.120442488T>C | CA2454871157 | LAMP2 | c.928+111A>G (n.928+111A>G) c.471+111A>G | dbSNP gnomAD v4 |
| X | g.120442488T= | CA2454871155 | LAMP2 | c.928+111A= (n.928+111A=) c.471+111A= | |
| X | g.120442490G>A | CA2694597854 | LAMP2 | c.928+109C>T (n.928+109C>T) c.471+109C>T | gnomAD v4 |
| X | g.120442490G>T | CA2694597855 | LAMP2 | c.928+109C>A (n.928+109C>A) c.471+109C>A | gnomAD v4 |
| X | g.120442491C>A | CA2694597856 | LAMP2 | c.928+108G>T (n.928+108G>T) c.471+108G>T | gnomAD v4 |
| X | g.120442491C= | CA2454871158 | LAMP2 | c.928+108G= (n.928+108G=) c.471+108G= | |
| X | g.120442491C>T | CA335013149 | LAMP2 | c.928+108G>A (n.928+108G>A) c.471+108G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442493T>A | CA870729174 | LAMP2 | c.928+106A>T (n.928+106A>T) c.471+106A>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442493T= | CA2454871159 | LAMP2 | c.928+106A= (n.928+106A=) c.471+106A= | |
| X | g.120442496T>C | CA2694597857 | LAMP2 | c.928+103A>G (n.928+103A>G) c.471+103A>G | gnomAD v4 |
| X | g.120442496T>G | CA870729178 | LAMP2 | c.928+103A>C (n.928+103A>C) c.471+103A>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442496T= | CA2454871160 | LAMP2 | c.928+103A= (n.928+103A=) c.471+103A= | |
| 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.120442522del | CA2823249062 | LAMP2 | c.928+79del (n.928+79del) c.471+79del | |
| 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 |
| 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 |