Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120442663C>A | CA414400410 | LAMP2 | c.865-1G>T (n.865-1G>T) c.408-1G>T | |
X | g.120442663C= | CA2454871205 | LAMP2 | c.865-1G= (n.865-1G=) c.408-1G= | |
X | g.120442663C>G | CA134212 | LAMP2 | c.865-1G>C (n.865-1G>C) c.408-1G>C | ClinVar dbSNP |
X | g.120442663C>T | CA414400411 | LAMP2 | c.865-1G>A (n.865-1G>A) c.408-1G>A | |
X | g.120442664T>A | CA414400412 | LAMP2 | c.865-2A>T (n.865-2A>T) c.408-2A>T | |
X | g.120442664T>C | CA414400413 | LAMP2 | c.865-2A>G (n.865-2A>G) c.408-2A>G | dbSNP |
X | g.120442664T>G | CA414400414 | LAMP2 | c.865-2A>C (n.865-2A>C) c.408-2A>C | |
X | g.120442664T= | CA2454871206 | LAMP2 | c.865-2A= (n.865-2A=) c.408-2A= | |
X | g.120442665G>A | CA2823249097 | LAMP2 | c.865-3C>T (n.865-3C>T) c.408-3C>T | |
X | g.120442665G>C | CA2695236104 | LAMP2 | c.865-3C>G (n.865-3C>G) c.408-3C>G | |
X | g.120442665G= | CA2454871207 | LAMP2 | c.865-3C= (n.865-3C=) c.408-3C= | |
X | g.120442665G>T | CA134213 | LAMP2 | c.865-3C>A (n.865-3C>A) c.408-3C>A | ClinVar dbSNP |
X | g.120442665_120442666delinsGT | CA2454871208 | LAMP2 | c.865-4_865-3delinsAC (n.865-4_865-3delinsAC) c.408-4_408-3delinsAC | |
X | g.120442668del | CA10505237 | LAMP2 | c.865-4del (n.865-4del) c.408-4del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120442668T>C | CA2694597913 | LAMP2 | c.865-6A>G (n.865-6A>G) c.408-6A>G | gnomAD v4 |
X | g.120442669_120442670delinsGA | CA2454871209 | LAMP2 | c.865-8_865-7delinsTC (n.865-8_865-7delinsTC) c.408-8_408-7delinsTC | |
X | g.120442670A>G | CA2573159177 | LAMP2 | c.865-8T>C (n.865-8T>C) c.408-8T>C | ClinVar dbSNP |
X | g.120442674dup | CA10505238 | LAMP2 | c.865-8dup (n.865-8dup) c.408-8dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120442674del | CA10505239 | LAMP2 | c.865-8del (n.865-8del) c.408-8del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442671A= | CA2454871210 | LAMP2 | c.865-9T= (n.865-9T=) c.408-9T= | |
X | g.120442671A>G | CA16608256 | LAMP2 | c.865-9T>C (n.865-9T>C) c.408-9T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.120442674A>G | CA2694597914 | LAMP2 | c.865-12T>C (n.865-12T>C) c.408-12T>C | gnomAD v4 |
X | g.120442675G>A | CA10505240 | LAMP2 | c.865-13C>T (n.865-13C>T) c.408-13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120442675G>C | CA644130768 | LAMP2 | c.865-13C>G (n.865-13C>G) c.408-13C>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.120442675G= | CA2454871211 | LAMP2 | c.865-13C= (n.865-13C=) c.408-13C= | |
X | g.120442675G>T | CA2694597915 | LAMP2 | c.865-13C>A (n.865-13C>A) c.408-13C>A | gnomAD v4 |
X | g.120442677G>C | CA2694597916 | LAMP2 | c.865-15C>G (n.865-15C>G) c.408-15C>G | gnomAD v4 |
X | g.120442677G>T | CA2694597917 | LAMP2 | c.865-15C>A (n.865-15C>A) c.408-15C>A | gnomAD v4 |
X | g.120442678C>T | CA2694597918 | LAMP2 | c.865-16G>A (n.865-16G>A) c.408-16G>A | gnomAD v4 |
X | g.120442679T>C | CA2694597919 | LAMP2 | c.865-17A>G (n.865-17A>G) c.408-17A>G | gnomAD v4 |
X | g.120442680T>A | CA644130769 | LAMP2 | c.865-18A>T (n.865-18A>T) c.408-18A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.120442680T>C | CA2694597920 | LAMP2 | c.865-18A>G (n.865-18A>G) c.408-18A>G | gnomAD v4 |
X | g.120442680T= | CA2454871212 | LAMP2 | c.865-18A= (n.865-18A=) c.408-18A= | |
X | g.120442681C>A | CA2694597921 | LAMP2 | c.865-19G>T (n.865-19G>T) c.408-19G>T | gnomAD v4 |
X | g.120442681C= | CA2454871213 | LAMP2 | c.865-19G= (n.865-19G=) c.408-19G= | |
X | g.120442681C>G | CA644130770 | LAMP2 | c.865-19G>C (n.865-19G>C) c.408-19G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442682C>T | CA2694597922 | LAMP2 | c.865-20G>A (n.865-20G>A) c.408-20G>A | gnomAD v4 |
X | g.120442683A>G | CA2694597923 | LAMP2 | c.865-21T>C (n.865-21T>C) c.408-21T>C | gnomAD v4 |
X | g.120442684G>T | CA2694597924 | LAMP2 | c.865-22C>A (n.865-22C>A) c.408-22C>A | gnomAD v4 |
X | g.120442684_120442688delinsGTTAA | CA2454871214 | LAMP2 | c.865-26_865-22delinsTTAAC (n.865-26_865-22delinsTTAAC) c.408-26_408-22delinsTTAAC | |
X | g.120442686del | CA2579692130 | LAMP2 | c.865-23del (n.865-23del) c.408-23del | |
X | g.120442689_120442692del | CA644130771 | LAMP2 | c.865-26_865-23del (n.865-26_865-23del) c.408-26_408-23del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442686T>A | CA2694597926 | LAMP2 | c.865-24A>T (n.865-24A>T) c.408-24A>T | gnomAD v4 |
X | g.120442686T>C | CA2694597925 | LAMP2 | c.865-24A>G (n.865-24A>G) c.408-24A>G | gnomAD v4 |
X | g.120442689T>A | CA2579692131 | LAMP2 | c.865-27A>T (n.865-27A>T) c.408-27A>T | |
X | g.120442690T>C | CA2579692132 | LAMP2 | c.865-28A>G (n.865-28A>G) c.408-28A>G | |
X | g.120442691A= | CA2454871216 | LAMP2 | c.865-29T= (n.865-29T=) c.408-29T= | |
X | g.120442691A>C | CA2454871215 | LAMP2 | c.865-29T>G (n.865-29T>G) c.408-29T>G | dbSNP gnomAD v4 |
X | g.120442691A>G | CA2694597927 | LAMP2 | c.865-29T>C (n.865-29T>C) c.408-29T>C | gnomAD v4 |
X | g.120442692A>G | CA2694597928 | LAMP2 | c.865-30T>C (n.865-30T>C) c.408-30T>C | gnomAD v4 |