Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120448820G>T | CA2694598258 | LAMP2 | c.556+150C>A (n.556+150C>A) c.99+150C>A | gnomAD v4 |
X | g.120448821C= | CA2454873065 | LAMP2 | c.556+149G= (n.556+149G=) c.99+149G= | |
X | g.120448821C>G | CA2694598259 | LAMP2 | c.556+149G>C (n.556+149G>C) c.99+149G>C | gnomAD v4 |
X | g.120448821C>T | CA2454873066 | LAMP2 | c.556+149G>A (n.556+149G>A) c.99+149G>A | dbSNP gnomAD v4 |
X | g.120448821_120448824delinsCTAT | CA2454873067 | LAMP2 | c.556+146_556+149delinsATAG (n.556+146_556+149delinsATAG) c.99+146_99+149delinsATAG | |
X | g.120448826_120448828del | CA2454873068 | LAMP2 | c.556+146_556+148del (n.556+146_556+148del) c.99+146_99+148del | dbSNP |
X | g.120448823A>G | CA2694598260 | LAMP2 | c.556+147T>C (n.556+147T>C) c.99+147T>C | gnomAD v4 |
X | g.120448826A= | CA2454873069 | LAMP2 | c.556+144T= (n.556+144T=) c.99+144T= | |
X | g.120448826A>G | CA1136815688 | LAMP2 | c.556+144T>C (n.556+144T>C) c.99+144T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.120448827T>C | CA2694598261 | LAMP2 | c.556+143A>G (n.556+143A>G) c.99+143A>G | gnomAD v4 |
X | g.120448828T>C | CA2454873071 | LAMP2 | c.556+142A>G (n.556+142A>G) c.99+142A>G | dbSNP |
X | g.120448828T= | CA2454873070 | LAMP2 | c.556+142A= (n.556+142A=) c.99+142A= | |
X | g.120448831C>A | CA2694598262 | LAMP2 | c.556+139G>T (n.556+139G>T) c.99+139G>T | gnomAD v4 |
X | g.120448831C= | CA2454873072 | LAMP2 | c.556+139G= (n.556+139G=) c.99+139G= | |
X | g.120448831C>T | CA870734069 | LAMP2 | c.556+139G>A (n.556+139G>A) c.99+139G>A | dbSNP gnomAD v4 |
X | g.120448836del | CA2823250068 | LAMP2 | c.556+138del (n.556+138del) c.99+138del | |
X | g.120448834A>G | CA2694598263 | LAMP2 | c.556+136T>C (n.556+136T>C) c.99+136T>C | gnomAD v4 |
X | g.120448836A>C | CA2694598264 | LAMP2 | c.556+134T>G (n.556+134T>G) c.99+134T>G | gnomAD v4 |
X | g.120448838T>G | CA2694598265 | LAMP2 | c.556+132A>C (n.556+132A>C) c.99+132A>C | gnomAD v4 |
X | g.120448841A= | CA2454873073 | LAMP2 | c.556+129T= (n.556+129T=) c.99+129T= | |
X | g.120448841A>G | CA2454873074 | LAMP2 | c.556+129T>C (n.556+129T>C) c.99+129T>C | dbSNP gnomAD v4 |
X | g.120448842T>C | CA2454873076 | LAMP2 | c.556+128A>G (n.556+128A>G) c.99+128A>G | dbSNP gnomAD v4 |
X | g.120448842T= | CA2454873075 | LAMP2 | c.556+128A= (n.556+128A=) c.99+128A= | |
X | g.120448844G>A | CA2694598266 | LAMP2 | c.556+126C>T (n.556+126C>T) c.99+126C>T | gnomAD v4 |
X | g.120448844G>T | CA2694598267 | LAMP2 | c.556+126C>A (n.556+126C>A) c.99+126C>A | gnomAD v4 |
X | g.120448845C>A | CA2823250071 | LAMP2 | c.556+125G>T (n.556+125G>T) c.99+125G>T | |
X | g.120448845C= | CA2454873077 | LAMP2 | c.556+125G= (n.556+125G=) c.99+125G= | |
X | g.120448845C>T | CA1136815689 | LAMP2 | c.556+125G>A (n.556+125G>A) c.99+125G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.120448846C>A | CA2694598268 | LAMP2 | c.556+124G>T (n.556+124G>T) c.99+124G>T | gnomAD v4 |
X | g.120448849G>T | CA2694598269 | LAMP2 | c.556+121C>A (n.556+121C>A) c.99+121C>A | gnomAD v4 |
X | g.120448850T>C | CA2454873079 | LAMP2 | c.556+120A>G (n.556+120A>G) c.99+120A>G | dbSNP gnomAD v4 |
X | g.120448850T= | CA2454873078 | LAMP2 | c.556+120A= (n.556+120A=) c.99+120A= | |
X | g.120448852G>A | CA2694598270 | LAMP2 | c.556+118C>T (n.556+118C>T) c.99+118C>T | gnomAD v4 |
X | g.120448855G>C | CA2454873081 | LAMP2 | c.556+115C>G (n.556+115C>G) c.99+115C>G | dbSNP |
X | g.120448855G= | CA2454873080 | LAMP2 | c.556+115C= (n.556+115C=) c.99+115C= | |
X | g.120448855G>T | CA2694598271 | LAMP2 | c.556+115C>A (n.556+115C>A) c.99+115C>A | gnomAD v4 |
X | g.120448857T>C | CA2694598272 | LAMP2 | c.556+113A>G (n.556+113A>G) c.99+113A>G | gnomAD v4 |
X | g.120448858A>G | CA2694598274 | LAMP2 | c.556+112T>C (n.556+112T>C) c.99+112T>C | gnomAD v4 |
X | g.120448859_120448865del | CA2694598273 | LAMP2 | c.556+106_556+112del (n.556+106_556+112del) c.99+106_99+112del | gnomAD v4 |
X | g.120448859T>C | CA2454873083 | LAMP2 | c.556+111A>G (n.556+111A>G) c.99+111A>G | dbSNP |
X | g.120448859T= | CA2454873082 | LAMP2 | c.556+111A= (n.556+111A=) c.99+111A= | |
X | g.120448860G>A | CA2694598275 | LAMP2 | c.556+110C>T (n.556+110C>T) c.99+110C>T | gnomAD v4 |
X | g.120448860G>T | CA2694598276 | LAMP2 | c.556+110C>A (n.556+110C>A) c.99+110C>A | gnomAD v4 |
X | g.120448861A>T | CA2694598277 | LAMP2 | c.556+109T>A (n.556+109T>A) c.99+109T>A | gnomAD v4 |
X | g.120448865A>G | CA2694598278 | LAMP2 | c.556+105T>C (n.556+105T>C) c.99+105T>C | gnomAD v4 |
X | g.120448867C= | CA2454873085 | LAMP2 | c.556+103G= (n.556+103G=) c.99+103G= | |
X | g.120448867C>T | CA2454873084 | LAMP2 | c.556+103G>A (n.556+103G>A) c.99+103G>A | dbSNP gnomAD v4 |
X | g.120448868C>A | CA335013565 | LAMP2 | c.556+102G>T (n.556+102G>T) c.99+102G>T | dbSNP gnomAD v4 |
X | g.120448868C= | CA2454873086 | LAMP2 | c.556+102G= (n.556+102G=) c.99+102G= | |
X | g.120448871A= | CA2454873087 | LAMP2 | c.556+99T= (n.556+99T=) c.99+99T= | |
X | g.120448871A>G | CA2454873088 | LAMP2 | c.556+99T>C (n.556+99T>C) c.99+99T>C | dbSNP |
X | g.120448871A>T | CA2579692186 | LAMP2 | c.556+99T>A (n.556+99T>A) c.99+99T>A | gnomAD v4 |
X | g.120448873T>A | CA2579692187 | LAMP2 | c.556+97A>T (n.556+97A>T) c.99+97A>T | |
X | g.120448873T>C | CA2694598279 | LAMP2 | c.556+97A>G (n.556+97A>G) c.99+97A>G | gnomAD v4 |
X | g.120448875T>C | CA1136815693 | LAMP2 | c.556+95A>G (n.556+95A>G) c.99+95A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.120448875T= | CA2454873089 | LAMP2 | c.556+95A= (n.556+95A=) c.99+95A= | |
X | g.120448878A>T | CA2694598280 | LAMP2 | c.556+92T>A (n.556+92T>A) c.99+92T>A | gnomAD v4 |
X | g.120448882G>T | CA2579692188 | LAMP2 | c.556+88C>A (n.556+88C>A) c.99+88C>A | gnomAD v4 |
X | g.120448883C>T | CA2539969030 | LAMP2 | c.556+87G>A (n.556+87G>A) c.99+87G>A | gnomAD v4 |
X | g.120448887C>T | CA2579692189 | LAMP2 | c.556+83G>A (n.556+83G>A) c.99+83G>A | |
X | g.120448889G>T | CA2694598281 | LAMP2 | c.556+81C>A (n.556+81C>A) c.99+81C>A | gnomAD v4 |
X | g.120448892_120448894del | CA2694598282 | LAMP2 | c.556+78_556+80del (n.556+78_556+80del) c.99+78_99+80del | gnomAD v4 |
X | g.120448891T>A | CA2694598283 | LAMP2 | c.556+79A>T (n.556+79A>T) c.99+79A>T | gnomAD v4 |
X | g.120448892A>T | CA2579692190 | LAMP2 | c.556+78T>A (n.556+78T>A) c.99+78T>A | |
X | g.120448893A= | CA2454873090 | LAMP2 | c.556+77T= (n.556+77T=) c.99+77T= | |
X | g.120448893A>G | CA2454873091 | LAMP2 | c.556+77T>C (n.556+77T>C) c.99+77T>C | dbSNP |
X | g.120448894T>C | CA2823250073 | LAMP2 | c.556+76A>G (n.556+76A>G) c.99+76A>G | |
X | g.120448895G>T | CA2579692191 | LAMP2 | c.556+75C>A (n.556+75C>A) c.99+75C>A | gnomAD v4 |
X | g.120448897C>A | CA2694598284 | LAMP2 | c.556+73G>T (n.556+73G>T) c.99+73G>T | gnomAD v4 |
X | g.120448900C>T | CA2823250074 | LAMP2 | c.556+70G>A (n.556+70G>A) c.99+70G>A | |
X | g.120448902A= | CA2454873092 | LAMP2 | c.556+68T= (n.556+68T=) c.99+68T= | |
X | g.120448902A>G | CA2454873093 | LAMP2 | c.556+68T>C (n.556+68T>C) c.99+68T>C | dbSNP gnomAD v4 |
X | g.120448904G>T | CA2579692192 | LAMP2 | c.556+66C>A (n.556+66C>A) c.99+66C>A | |
X | g.120448908G>A | CA1136815694 | LAMP2 | c.556+62C>T (n.556+62C>T) c.99+62C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.120448908G= | CA2454873094 | LAMP2 | c.556+62C= (n.556+62C=) c.99+62C= | |
X | g.120448912C= | CA2454873095 | LAMP2 | c.556+58G= (n.556+58G=) c.99+58G= | |
X | g.120448912C>T | CA870734073 | LAMP2 | c.556+58G>A (n.556+58G>A) c.99+58G>A | dbSNP gnomAD v4 |
X | g.120448913C>T | CA2823250078 | LAMP2 | c.556+57G>A (n.556+57G>A) c.99+57G>A | |
X | g.120448914T>C | CA2579692193 | LAMP2 | c.556+56A>G (n.556+56A>G) c.99+56A>G | |
X | g.120448915G>T | CA2579692194 | LAMP2 | c.556+55C>A (n.556+55C>A) c.99+55C>A | gnomAD v4 |
X | g.120448916del | CA2562201856 | LAMP2 | c.556+55del (n.556+55del) c.99+55del | |
X | g.120448916G>A | CA2694598285 | LAMP2 | c.556+54C>T (n.556+54C>T) c.99+54C>T | gnomAD v4 |
X | g.120448916G>T | CA2694598286 | LAMP2 | c.556+54C>A (n.556+54C>A) c.99+54C>A | gnomAD v4 |