Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120442421G= | CA2454871129 | LAMP2 | c.928+178C= (n.928+178C=) c.471+178C= | |
X | g.120442421G>T | CA2454871130 | LAMP2 | c.928+178C>A (n.928+178C>A) c.471+178C>A | dbSNP |
X | g.120442421_120442422delinsGA | CA2454871128 | LAMP2 | c.928+177_928+178delinsTC (n.928+177_928+178delinsTC) c.471+177_471+178delinsTC | |
X | g.120442426del | CA335013144 | LAMP2 | c.928+177del (n.928+177del) c.471+177del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442427G= | CA2454871132 | LAMP2 | c.928+172C= (n.928+172C=) c.471+172C= | |
X | g.120442427G>T | CA2454871131 | LAMP2 | c.928+172C>A (n.928+172C>A) c.471+172C>A | dbSNP |
X | g.120442432A= | CA2454871133 | LAMP2 | c.928+167T= (n.928+167T=) c.471+167T= | |
X | g.120442432A>G | CA1136814519 | LAMP2 | c.928+167T>C (n.928+167T>C) c.471+167T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442434C= | CA2454871134 | LAMP2 | c.928+165G= (n.928+165G=) c.471+165G= | |
X | g.120442434C>T | CA2454871135 | LAMP2 | c.928+165G>A (n.928+165G>A) c.471+165G>A | dbSNP |
X | g.120442438A>G | CA2823249034 | LAMP2 | c.928+161T>C (n.928+161T>C) c.471+161T>C | |
X | g.120442439T>C | CA870729158 | LAMP2 | c.928+160A>G (n.928+160A>G) c.471+160A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.120442439T= | CA2454871136 | LAMP2 | c.928+160A= (n.928+160A=) c.471+160A= | |
X | g.120442442T>C | CA2454871138 | LAMP2 | c.928+157A>G (n.928+157A>G) c.471+157A>G | dbSNP |
X | g.120442442T= | CA2454871137 | LAMP2 | c.928+157A= (n.928+157A=) c.471+157A= | |
X | g.120442443T>G | CA2454871140 | LAMP2 | c.928+156A>C (n.928+156A>C) c.471+156A>C | dbSNP |
X | g.120442443T= | CA2454871139 | LAMP2 | c.928+156A= (n.928+156A=) c.471+156A= | |
X | g.120442450T>C | CA2694597841 | LAMP2 | c.928+149A>G (n.928+149A>G) c.471+149A>G | gnomAD v4 |
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 |