| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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 |
| X | g.120448919T>C | CA10505291 | LAMP2 | c.556+51A>G (n.556+51A>G) c.99+51A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120448919T= | CA2454873096 | LAMP2 | c.556+51A= (n.556+51A=) c.99+51A= | |
| X | g.120448920A>G | CA2694598287 | LAMP2 | c.556+50T>C (n.556+50T>C) c.99+50T>C | gnomAD v4 |
| X | g.120448920A>T | CA2694598288 | LAMP2 | c.556+50T>A (n.556+50T>A) c.99+50T>A | gnomAD v4 |
| X | g.120448921C>T | CA2506875797 | LAMP2 | c.556+49G>A (n.556+49G>A) c.99+49G>A | |
| X | g.120448925A>T | CA2694598289 | LAMP2 | c.556+45T>A (n.556+45T>A) c.99+45T>A | gnomAD v4 |
| X | g.120448926C= | CA2454873097 | LAMP2 | c.556+44G= (n.556+44G=) c.99+44G= | |
| X | g.120448926C>G | CA644131195 | LAMP2 | c.556+44G>C (n.556+44G>C) c.99+44G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448926C>T | CA2694598290 | LAMP2 | c.556+44G>A (n.556+44G>A) c.99+44G>A | gnomAD v4 |
| X | g.120448929T>C | CA2694598291 | LAMP2 | c.556+41A>G (n.556+41A>G) c.99+41A>G | gnomAD v4 |
| X | g.120448930T>C | CA1136815697 | LAMP2 | c.556+40A>G (n.556+40A>G) c.99+40A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448930T>G | CA2694598292 | LAMP2 | c.556+40A>C (n.556+40A>C) c.99+40A>C | gnomAD v4 |
| X | g.120448930T= | CA2454873098 | LAMP2 | c.556+40A= (n.556+40A=) c.99+40A= | |
| X | g.120448933A= | CA2454873099 | LAMP2 | c.556+37T= (n.556+37T=) c.99+37T= | |
| X | g.120448933A>C | CA2454873100 | LAMP2 | c.556+37T>G (n.556+37T>G) c.99+37T>G | dbSNP |
| X | g.120448936A>G | CA2694598293 | LAMP2 | c.556+34T>C (n.556+34T>C) c.99+34T>C | gnomAD v4 |
| X | g.120448937G>T | CA2694598294 | LAMP2 | c.556+33C>A (n.556+33C>A) c.99+33C>A | gnomAD v4 |
| X | g.120448938del | CA2579692195 | LAMP2 | c.556+33del (n.556+33del) c.99+33del | |
| X | g.120448938G>T | CA2694598295 | LAMP2 | c.556+32C>A (n.556+32C>A) c.99+32C>A | gnomAD v4 |
| X | g.120448939A>G | CA2694598296 | LAMP2 | c.556+31T>C (n.556+31T>C) c.99+31T>C | gnomAD v4 |
| X | g.120448942del | CA2579692196 | LAMP2 | c.556+29del (n.556+29del) c.99+29del | |
| X | g.120448943A>C | CA2694598297 | LAMP2 | c.556+27T>G (n.556+27T>G) c.99+27T>G | gnomAD v4 |
| X | g.120448945G>T | CA2694598298 | LAMP2 | c.556+25C>A (n.556+25C>A) c.99+25C>A | gnomAD v4 |
| X | g.120448946T>A | CA2694598299 | LAMP2 | c.556+24A>T (n.556+24A>T) c.99+24A>T | gnomAD v4 |
| X | g.120448948del | CA2694598300 | LAMP2 | c.556+22del (n.556+22del) c.99+22del | gnomAD v4 |
| X | g.120448948G>A | CA2694598301 | LAMP2 | c.556+22C>T (n.556+22C>T) c.99+22C>T | gnomAD v4 |