| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1002015_1002017del | CA2586965949 | IDUA | c.826_828del (p.Glu276del) n.882_884del c.643_645del (p.Glu215del) c.430_432del (p.Glu144del) n.826_828del n.914_916del c.785_787del (p.Gly262del) c.685_687del (p.Glu229del) c.619_621del (p.Glu207del) c.538_540del (p.Glu180del) n.895_897del c.-135_-133del (n.-135_-133del) | ClinVar gnomAD v4 |
| 4 | g.1002017G>A | CA438057443 | IDUA | c.828G>A (p.Glu276=) n.884G>A c.645G>A (p.Glu215=) c.432G>A (p.Glu144=) n.828G>A n.916G>A c.787G>A (p.Glu263Lys) c.687G>A (p.Glu229=) c.621G>A (p.Glu207=) c.540G>A (p.Glu180=) n.897G>A c.-133G>A (n.-133G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1002017G>C | CA2802104 | IDUA | c.828G>C (p.Glu276Asp) n.884G>C c.645G>C (p.Glu215Asp) c.432G>C (p.Glu144Asp) n.828G>C n.916G>C c.787G>C (p.Glu263Gln) c.687G>C (p.Glu229Asp) c.621G>C (p.Glu207Asp) c.540G>C (p.Glu180Asp) n.897G>C c.-133G>C (n.-133G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1002017G= | CA1433068503 | IDUA | c.828G= (p.Glu276=) n.884G= c.645G= (p.Glu215=) c.432G= (p.Glu144=) n.828G= n.916G= c.787G= (p.Glu263=) c.687G= (p.Glu229=) c.621G= (p.Glu207=) c.540G= (p.Glu180=) n.897G= c.-133G= (n.-133G=) | |
| 4 | g.1002017G>T | CA355962361 | IDUA | c.828G>T (p.Glu276Asp) n.884G>T c.645G>T (p.Glu215Asp) c.432G>T (p.Glu144Asp) n.828G>T n.916G>T c.787G>T (p.Glu263Ter) c.687G>T (p.Glu229Asp) c.621G>T (p.Glu207Asp) c.540G>T (p.Glu180Asp) n.897G>T c.-133G>T (n.-133G>T) | gnomAD v4 |
| 4 | g.1002018A>C | CA355962364 | IDUA | c.829A>C (p.Lys277Gln) n.885A>C c.646A>C (p.Lys216Gln) c.433A>C (p.Lys145Gln) n.829A>C n.917A>C c.788A>C (p.Glu263Ala) c.688A>C (p.Lys230Gln) c.622A>C (p.Lys208Gln) c.541A>C (p.Lys181Gln) n.898A>C c.-132A>C (n.-132A>C) | gnomAD v4 |
| 4 | g.1002018A>G | CA355962363 | IDUA | c.829A>G (p.Lys277Glu) n.885A>G c.646A>G (p.Lys216Glu) c.433A>G (p.Lys145Glu) n.829A>G n.917A>G c.788A>G (p.Glu263Gly) c.688A>G (p.Lys230Glu) c.622A>G (p.Lys208Glu) c.541A>G (p.Lys181Glu) n.898A>G c.-132A>G (n.-132A>G) | |
| 4 | g.1002018A>T | CA355962362 | IDUA | c.829A>T (p.Lys277Ter) n.885A>T c.646A>T (p.Lys216Ter) c.433A>T (p.Lys145Ter) n.829A>T n.917A>T c.788A>T (p.Glu263Val) c.688A>T (p.Lys230Ter) c.622A>T (p.Lys208Ter) c.541A>T (p.Lys181Ter) n.898A>T c.-132A>T (n.-132A>T) | |
| 4 | g.1002019A>C | CA355962365 | IDUA | c.830A>C (p.Lys277Thr) n.886A>C c.647A>C (p.Lys216Thr) c.434A>C (p.Lys145Thr) n.830A>C n.918A>C c.789A>C (p.Glu263Asp) c.689A>C (p.Lys230Thr) c.623A>C (p.Lys208Thr) c.542A>C (p.Lys181Thr) n.899A>C c.-131A>C (n.-131A>C) | gnomAD v4 |
| 4 | g.1002019A>G | CA355962366 | IDUA | c.830A>G (p.Lys277Arg) n.886A>G c.647A>G (p.Lys216Arg) c.434A>G (p.Lys145Arg) n.830A>G n.918A>G c.789A>G (p.Glu263=) c.689A>G (p.Lys230Arg) c.623A>G (p.Lys208Arg) c.542A>G (p.Lys181Arg) n.899A>G c.-131A>G (n.-131A>G) | |
| 4 | g.1002019A>T | CA355962367 | IDUA | c.830A>T (p.Lys277Met) n.886A>T c.647A>T (p.Lys216Met) c.434A>T (p.Lys145Met) n.830A>T n.918A>T c.789A>T (p.Glu263Asp) c.689A>T (p.Lys230Met) c.623A>T (p.Lys208Met) c.542A>T (p.Lys181Met) n.899A>T c.-131A>T (n.-131A>T) | gnomAD v4 |
| 4 | g.1002020G>A | CA438057445 | IDUA | c.831G>A (p.Lys277=) n.887G>A c.648G>A (p.Lys216=) c.435G>A (p.Lys145=) n.831G>A n.919G>A c.790G>A (p.Gly264Ser) c.690G>A (p.Lys230=) c.624G>A (p.Lys208=) c.543G>A (p.Lys181=) n.900G>A c.-130G>A (n.-130G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1002020G>C | CA2802105 | IDUA | c.831G>C (p.Lys277Asn) n.887G>C c.648G>C (p.Lys216Asn) c.435G>C (p.Lys145Asn) n.831G>C n.919G>C c.790G>C (p.Gly264Arg) c.690G>C (p.Lys230Asn) c.624G>C (p.Lys208Asn) c.543G>C (p.Lys181Asn) n.900G>C c.-130G>C (n.-130G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1002020G= | CA1433068505 | IDUA | c.831G= (p.Lys277=) n.887G= c.648G= (p.Lys216=) c.435G= (p.Lys145=) n.831G= n.919G= c.790G= (p.Gly264=) c.690G= (p.Lys230=) c.624G= (p.Lys208=) c.543G= (p.Lys181=) n.900G= c.-130G= (n.-130G=) | |
| 4 | g.1002020G>T | CA355962368 | IDUA | c.831G>T (p.Lys277Asn) n.887G>T c.648G>T (p.Lys216Asn) c.435G>T (p.Lys145Asn) n.831G>T n.919G>T c.790G>T (p.Gly264Cys) c.690G>T (p.Lys230Asn) c.624G>T (p.Lys208Asn) c.543G>T (p.Lys181Asn) n.900G>T c.-130G>T (n.-130G>T) | |
| 4 | g.1002021G>A | CA355962369 | IDUA | c.832G>A (p.Val278Ile) n.888G>A c.649G>A (p.Val217Ile) c.436G>A (p.Val146Ile) n.832G>A n.920G>A c.791G>A (p.Gly264Asp) c.691G>A (p.Val231Ile) c.625G>A (p.Val209Ile) c.544G>A (p.Val182Ile) n.901G>A c.-129G>A (n.-129G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1002021G>C | CA355962370 | IDUA | c.832G>C (p.Val278Leu) n.888G>C c.649G>C (p.Val217Leu) c.436G>C (p.Val146Leu) n.832G>C n.920G>C c.791G>C (p.Gly264Ala) c.691G>C (p.Val231Leu) c.625G>C (p.Val209Leu) c.544G>C (p.Val182Leu) n.901G>C c.-129G>C (n.-129G>C) | |
| 4 | g.1002021G= | CA1433068507 | IDUA | c.832G= (p.Val278=) n.888G= c.649G= (p.Val217=) c.436G= (p.Val146=) n.832G= n.920G= c.791G= (p.Gly264=) c.691G= (p.Val231=) c.625G= (p.Val209=) c.544G= (p.Val182=) n.901G= c.-129G= (n.-129G=) | |
| 4 | g.1002021G>T | CA355962371 | IDUA | c.832G>T (p.Val278Phe) n.888G>T c.649G>T (p.Val217Phe) c.436G>T (p.Val146Phe) n.832G>T n.920G>T c.791G>T (p.Gly264Val) c.691G>T (p.Val231Phe) c.625G>T (p.Val209Phe) c.544G>T (p.Val182Phe) n.901G>T c.-129G>T (n.-129G>T) | |
| 4 | g.1002022T>A | CA355962372 | IDUA | c.833T>A (p.Val278Asp) n.889T>A c.650T>A (p.Val217Asp) c.437T>A (p.Val146Asp) n.833T>A n.921T>A c.792T>A (p.Gly264=) c.692T>A (p.Val231Asp) c.626T>A (p.Val209Asp) c.545T>A (p.Val182Asp) n.902T>A c.-128T>A (n.-128T>A) | gnomAD v4 |
| 4 | g.1002022T>C | CA355962373 | IDUA | c.833T>C (p.Val278Ala) n.889T>C c.650T>C (p.Val217Ala) c.437T>C (p.Val146Ala) n.833T>C n.921T>C c.792T>C (p.Gly264=) c.692T>C (p.Val231Ala) c.626T>C (p.Val209Ala) c.545T>C (p.Val182Ala) n.902T>C c.-128T>C (n.-128T>C) | |
| 4 | g.1002022T>G | CA355962374 | IDUA | c.833T>G (p.Val278Gly) n.889T>G c.650T>G (p.Val217Gly) c.437T>G (p.Val146Gly) n.833T>G n.921T>G c.792T>G (p.Gly264=) c.692T>G (p.Val231Gly) c.626T>G (p.Val209Gly) c.545T>G (p.Val182Gly) n.902T>G c.-128T>G (n.-128T>G) | |
| 4 | g.1002023C>A | CA438057449 | IDUA | c.834C>A (p.Val278=) n.890C>A c.651C>A (p.Val217=) c.438C>A (p.Val146=) n.834C>A n.922C>A c.793C>A (p.Arg265Ser) c.693C>A (p.Val231=) c.627C>A (p.Val209=) c.546C>A (p.Val182=) n.903C>A c.-127C>A (n.-127C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1002023C= | CA1433068509 | IDUA | c.834C= (p.Val278=) n.890C= c.651C= (p.Val217=) c.438C= (p.Val146=) n.834C= n.922C= c.793C= (p.Arg265=) c.693C= (p.Val231=) c.627C= (p.Val209=) c.546C= (p.Val182=) n.903C= c.-127C= (n.-127C=) | |
| 4 | g.1002023C>G | CA438057450 | IDUA | c.834C>G (p.Val278=) n.890C>G c.651C>G (p.Val217=) c.438C>G (p.Val146=) n.834C>G n.922C>G c.793C>G (p.Arg265Gly) c.693C>G (p.Val231=) c.627C>G (p.Val209=) c.546C>G (p.Val182=) n.903C>G c.-127C>G (n.-127C>G) | |
| 4 | g.1002023C>T | CA438057451 | IDUA | c.834C>T (p.Val278=) n.890C>T c.651C>T (p.Val217=) c.438C>T (p.Val146=) n.834C>T n.922C>T c.793C>T (p.Arg265Cys) c.693C>T (p.Val231=) c.627C>T (p.Val209=) c.546C>T (p.Val182=) n.903C>T c.-127C>T (n.-127C>T) | |
| 4 | g.1002024G>A | CA355962375 | IDUA | c.835G>A (p.Val279Ile) n.891G>A c.652G>A (p.Val218Ile) c.439G>A (p.Val147Ile) n.835G>A n.923G>A c.794G>A (p.Arg265His) c.694G>A (p.Val232Ile) c.628G>A (p.Val210Ile) c.547G>A (p.Val183Ile) n.904G>A c.-126G>A (n.-126G>A) | dbSNP gnomAD v4 |
| 4 | g.1002024G>C | CA355962376 | IDUA | c.835G>C (p.Val279Leu) n.891G>C c.652G>C (p.Val218Leu) c.439G>C (p.Val147Leu) n.835G>C n.923G>C c.794G>C (p.Arg265Pro) c.694G>C (p.Val232Leu) c.628G>C (p.Val210Leu) c.547G>C (p.Val183Leu) n.904G>C c.-126G>C (n.-126G>C) | |
| 4 | g.1002024G= | CA1433068512 | IDUA | c.835G= (p.Val279=) n.891G= c.652G= (p.Val218=) c.439G= (p.Val147=) n.835G= n.923G= c.794G= (p.Arg265=) c.694G= (p.Val232=) c.628G= (p.Val210=) c.547G= (p.Val183=) n.904G= c.-126G= (n.-126G=) | |
| 4 | g.1002024G>T | CA355962377 | IDUA | c.835G>T (p.Val279Phe) n.891G>T c.652G>T (p.Val218Phe) c.439G>T (p.Val147Phe) n.835G>T n.923G>T c.794G>T (p.Arg265Leu) c.694G>T (p.Val232Phe) c.628G>T (p.Val210Phe) c.547G>T (p.Val183Phe) n.904G>T c.-126G>T (n.-126G>T) | gnomAD v4 |
| 4 | g.1002025T>A | CA355962379 | IDUA | c.836T>A (p.Val279Asp) n.892T>A c.653T>A (p.Val218Asp) c.440T>A (p.Val147Asp) n.836T>A n.924T>A c.795T>A (p.Arg265=) c.695T>A (p.Val232Asp) c.629T>A (p.Val210Asp) c.548T>A (p.Val183Asp) n.905T>A c.-125T>A (n.-125T>A) | |
| 4 | g.1002025T>C | CA355962380 | IDUA | c.836T>C (p.Val279Ala) n.892T>C c.653T>C (p.Val218Ala) c.440T>C (p.Val147Ala) n.836T>C n.924T>C c.795T>C (p.Arg265=) c.695T>C (p.Val232Ala) c.629T>C (p.Val210Ala) c.548T>C (p.Val183Ala) n.905T>C c.-125T>C (n.-125T>C) | |
| 4 | g.1002025T>G | CA355962378 | IDUA | c.836T>G (p.Val279Gly) n.892T>G c.653T>G (p.Val218Gly) c.440T>G (p.Val147Gly) n.836T>G n.924T>G c.795T>G (p.Arg265=) c.695T>G (p.Val232Gly) c.629T>G (p.Val210Gly) c.548T>G (p.Val183Gly) n.905T>G c.-125T>G (n.-125T>G) | |
| 4 | g.1002026C>A | CA438057453 | IDUA | c.837C>A (p.Val279=) n.893C>A c.654C>A (p.Val218=) c.441C>A (p.Val147=) n.837C>A n.925C>A c.796C>A (p.Arg266Ser) c.696C>A (p.Val232=) c.630C>A (p.Val210=) c.549C>A (p.Val183=) n.906C>A c.-124C>A (n.-124C>A) | ClinVar dbSNP gnomAD v4 |
| 4 | g.1002026C= | CA1433068516 | IDUA | c.837C= (p.Val279=) n.893C= c.654C= (p.Val218=) c.441C= (p.Val147=) n.837C= n.925C= c.796C= (p.Arg266=) c.696C= (p.Val232=) c.630C= (p.Val210=) c.549C= (p.Val183=) n.906C= c.-124C= (n.-124C=) | |
| 4 | g.1002026C>G | CA438057454 | IDUA | c.837C>G (p.Val279=) n.893C>G c.654C>G (p.Val218=) c.441C>G (p.Val147=) n.837C>G n.925C>G c.796C>G (p.Arg266Gly) c.696C>G (p.Val232=) c.630C>G (p.Val210=) c.549C>G (p.Val183=) n.906C>G c.-124C>G (n.-124C>G) | dbSNP |
| 4 | g.1002026C>T | CA2802106 | IDUA | c.837C>T (p.Val279=) n.893C>T c.654C>T (p.Val218=) c.441C>T (p.Val147=) n.837C>T n.925C>T c.796C>T (p.Arg266Cys) c.696C>T (p.Val232=) c.630C>T (p.Val210=) c.549C>T (p.Val183=) n.906C>T c.-124C>T (n.-124C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1002027G>A | CA355962381 | IDUA | c.838G>A (p.Ala280Thr) n.894G>A c.655G>A (p.Ala219Thr) c.442G>A (p.Ala148Thr) n.838G>A n.926G>A c.797G>A (p.Arg266His) c.697G>A (p.Ala233Thr) c.631G>A (p.Ala211Thr) c.550G>A (p.Ala184Thr) n.907G>A c.-123G>A (n.-123G>A) | gnomAD v4 COSMIC COSMIC |
| 4 | g.1002027G>C | CA355962382 | IDUA | c.838G>C (p.Ala280Pro) n.894G>C c.655G>C (p.Ala219Pro) c.442G>C (p.Ala148Pro) n.838G>C n.926G>C c.797G>C (p.Arg266Pro) c.697G>C (p.Ala233Pro) c.631G>C (p.Ala211Pro) c.550G>C (p.Ala184Pro) n.907G>C c.-123G>C (n.-123G>C) | |
| 4 | g.1002027G= | CA1433068519 | IDUA | c.838G= (p.Ala280=) n.894G= c.655G= (p.Ala219=) c.442G= (p.Ala148=) n.838G= n.926G= c.797G= (p.Arg266=) c.697G= (p.Ala233=) c.631G= (p.Ala211=) c.550G= (p.Ala184=) n.907G= c.-123G= (n.-123G=) | |
| 4 | g.1002027G>T | CA355962383 | IDUA | c.838G>T (p.Ala280Ser) n.894G>T c.655G>T (p.Ala219Ser) c.442G>T (p.Ala148Ser) n.838G>T n.926G>T c.797G>T (p.Arg266Leu) c.697G>T (p.Ala233Ser) c.631G>T (p.Ala211Ser) c.550G>T (p.Ala184Ser) n.907G>T c.-123G>T (n.-123G>T) | dbSNP gnomAD v4 |
| 4 | g.1002028C>A | CA355962384 | IDUA | c.839C>A (p.Ala280Glu) n.895C>A c.656C>A (p.Ala219Glu) c.443C>A (p.Ala148Glu) n.839C>A n.927C>A c.798C>A (p.Arg266=) c.698C>A (p.Ala233Glu) c.632C>A (p.Ala211Glu) c.551C>A (p.Ala184Glu) n.908C>A c.-122C>A (n.-122C>A) | gnomAD v4 |
| 4 | g.1002028C= | CA1433068522 | IDUA | c.839C= (p.Ala280=) n.895C= c.656C= (p.Ala219=) c.443C= (p.Ala148=) n.839C= n.927C= c.798C= (p.Arg266=) c.698C= (p.Ala233=) c.632C= (p.Ala211=) c.551C= (p.Ala184=) n.908C= c.-122C= (n.-122C=) | |
| 4 | g.1002028C>G | CA355962385 | IDUA | c.839C>G (p.Ala280Gly) n.895C>G c.656C>G (p.Ala219Gly) c.443C>G (p.Ala148Gly) n.839C>G n.927C>G c.798C>G (p.Arg266=) c.698C>G (p.Ala233Gly) c.632C>G (p.Ala211Gly) c.551C>G (p.Ala184Gly) n.908C>G c.-122C>G (n.-122C>G) | |
| 4 | g.1002028C>T | CA355962386 | IDUA | c.839C>T (p.Ala280Val) n.895C>T c.656C>T (p.Ala219Val) c.443C>T (p.Ala148Val) n.839C>T n.927C>T c.798C>T (p.Arg266=) c.698C>T (p.Ala233Val) c.632C>T (p.Ala211Val) c.551C>T (p.Ala184Val) n.908C>T c.-122C>T (n.-122C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
| 4 | g.1002029G>A | CA438057455 | IDUA | c.840G>A (p.Ala280=) n.896G>A c.657G>A (p.Ala219=) c.444G>A (p.Ala148=) n.840G>A n.928G>A c.799G>A (p.Ala267Thr) c.699G>A (p.Ala233=) c.633G>A (p.Ala211=) c.552G>A (p.Ala184=) n.909G>A c.-121G>A (n.-121G>A) | gnomAD v4 |
| 4 | g.1002029G>C | CA438057456 | IDUA | c.840G>C (p.Ala280=) n.896G>C c.657G>C (p.Ala219=) c.444G>C (p.Ala148=) n.840G>C n.928G>C c.799G>C (p.Ala267Pro) c.699G>C (p.Ala233=) c.633G>C (p.Ala211=) c.552G>C (p.Ala184=) n.909G>C c.-121G>C (n.-121G>C) | ClinVar dbSNP |
| 4 | g.1002029G>T | CA438057457 | IDUA | c.840G>T (p.Ala280=) n.896G>T c.657G>T (p.Ala219=) c.444G>T (p.Ala148=) n.840G>T n.928G>T c.799G>T (p.Ala267Ser) c.699G>T (p.Ala233=) c.633G>T (p.Ala211=) c.552G>T (p.Ala184=) n.909G>T c.-121G>T (n.-121G>T) | gnomAD v4 |
| 4 | g.1002030C>A | CA355962387 | IDUA | c.841C>A (p.Gln281Lys) n.897C>A c.658C>A (p.Gln220Lys) c.445C>A (p.Gln149Lys) n.841C>A n.929C>A c.800C>A (p.Ala267Glu) c.700C>A (p.Gln234Lys) c.634C>A (p.Gln212Lys) c.553C>A (p.Gln185Lys) n.910C>A c.-120C>A (n.-120C>A) | |
| 4 | g.1002030C>G | CA355962388 | IDUA | c.841C>G (p.Gln281Glu) n.897C>G c.658C>G (p.Gln220Glu) c.445C>G (p.Gln149Glu) n.841C>G n.929C>G c.800C>G (p.Ala267Gly) c.700C>G (p.Gln234Glu) c.634C>G (p.Gln212Glu) c.553C>G (p.Gln185Glu) n.910C>G c.-120C>G (n.-120C>G) |