| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
| 9 | g.101427555T>A | CA374265310 | ALDOB | c.467A>T (p.Asp156Val) n.68-917A>T | |
| 9 | g.101427555T>C | CA374265312 | ALDOB | c.467A>G (p.Asp156Gly) n.68-917A>G | |
| 9 | g.101427555T>G | CA374265311 | ALDOB | c.467A>C (p.Asp156Ala) n.68-917A>C | dbSNP |
| 9 | g.101427555T= | CA1868280093 | ALDOB | c.467A= (p.Asp156=) n.68-917A= | |
| 9 | g.101427556C>A | CA5161591 | ALDOB | c.466G>T (p.Asp156Tyr) n.68-918G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427556C= | CA1868280094 | ALDOB | c.466G= (p.Asp156=) n.68-918G= | |
| 9 | g.101427556C>G | CA5161593 | ALDOB | c.466G>C (p.Asp156His) n.68-918G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427556C>T | CA5161592 | ALDOB | c.466G>A (p.Asp156Asn) n.68-918G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427556_101427557delinsCG | CA1868280095 | ALDOB | c.465_466delinsCG (p.Ala155=) n.68-919_68-918delinsCG | |
| 9 | g.101427557G>A | CA5161594 | ALDOB | c.465C>T (p.Ala155=) n.68-919C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427557G>C | CA466462893 | ALDOB | c.465C>G (p.Ala155=) n.68-919C>G | |
| 9 | g.101427557G= | CA1868280096 | ALDOB | c.465C= (p.Ala155=) n.68-919C= | |
| 9 | g.101427557G>T | CA5161595 | ALDOB | c.465C>A (p.Ala155=) n.68-919C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427558del | CA196957377 | ALDOB | c.465del (p.Asp156ThrfsTer?) n.68-919del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427558G>A | CA5161596 | ALDOB | c.464C>T (p.Ala155Val) n.68-920C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427558G>C | CA374265313 | ALDOB | c.464C>G (p.Ala155Gly) n.68-920C>G | |
| 9 | g.101427558G= | CA1868280097 | ALDOB | c.464C= (p.Ala155=) n.68-920C= | |
| 9 | g.101427558G>T | CA374265314 | ALDOB | c.464C>A (p.Ala155Asp) n.68-920C>A | |
| 9 | g.101427559C>A | CA374265315 | ALDOB | c.463G>T (p.Ala155Ser) n.68-921G>T | |
| 9 | g.101427559C>G | CA374265316 | ALDOB | c.463G>C (p.Ala155Pro) n.68-921G>C | |
| 9 | g.101427559C>T | CA374265317 | ALDOB | c.463G>A (p.Ala155Thr) n.68-921G>A | |
| 9 | g.101427560A>C | CA374265318 | ALDOB | c.462T>G (p.Ile154Met) n.68-922T>G | |
| 9 | g.101427560A>G | CA466462894 | ALDOB | c.462T>C (p.Ile154=) n.68-922T>C | ClinVar dbSNP |
| 9 | g.101427560A>T | CA466462895 | ALDOB | c.462T>A (p.Ile154=) n.68-922T>A | |
| 9 | g.101427561A= | CA1868280098 | ALDOB | c.461T= (p.Ile154=) n.68-923T= | |
| 9 | g.101427561A>C | CA374265319 | ALDOB | c.461T>G (p.Ile154Ser) n.68-923T>G | |
| 9 | g.101427561A>G | CA5161597 | ALDOB | c.461T>C (p.Ile154Thr) n.68-923T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427561A>T | CA196957384 | ALDOB | c.461T>A (p.Ile154Asn) n.68-923T>A | dbSNP |
| 9 | g.101427562T>A | CA374265320 | ALDOB | c.460A>T (p.Ile154Phe) n.68-924A>T | |
| 9 | g.101427562T>C | CA374265322 | ALDOB | c.460A>G (p.Ile154Val) n.68-924A>G | |
| 9 | g.101427562T>G | CA374265321 | ALDOB | c.460A>C (p.Ile154Leu) n.68-924A>C | |
| 9 | g.101427563C>A | CA374265323 | ALDOB | c.459G>T (p.Arg153Ser) n.68-925G>T | |
| 9 | g.101427563C>G | CA374265324 | ALDOB | c.459G>C (p.Arg153Ser) n.68-925G>C | |
| 9 | g.101427563C>T | CA466462896 | ALDOB | c.459G>A (p.Arg153=) n.68-925G>A | |
| 9 | g.101427564C>A | CA374265325 | ALDOB | c.458G>T (p.Arg153Met) n.68-926G>T | |
| 9 | g.101427564C>G | CA374265326 | ALDOB | c.458G>C (p.Arg153Thr) n.68-926G>C | |
| 9 | g.101427564C>T | CA374265327 | ALDOB | c.458G>A (p.Arg153Lys) n.68-926G>A | |
| 9 | g.101427565_101427566del | CA2580079283 | ALDOB | c.457_458del (p.Arg153AspfsTer?) n.68-927_68-926del | ClinVar |
| 9 | g.101427565T>A | CA374265328 | ALDOB | c.457A>T (p.Arg153Trp) n.68-927A>T | |
| 9 | g.101427565T>C | CA374265329 | ALDOB | c.457A>G (p.Arg153Gly) n.68-927A>G | gnomAD v4 |
| 9 | g.101427565T>G | CA466462897 | ALDOB | c.457A>C (p.Arg153=) n.68-927A>C | |
| 9 | g.101427566C>A | CA466462898 | ALDOB | c.456G>T (p.Leu152=) n.68-928G>T | |
| 9 | g.101427566C>G | CA466462899 | ALDOB | c.456G>C (p.Leu152=) n.68-928G>C | |
| 9 | g.101427566C>T | CA466462900 | ALDOB | c.456G>A (p.Leu152=) n.68-928G>A | |
| 9 | g.101427567A= | CA1868280099 | ALDOB | c.455T= (p.Leu152=) n.68-929T= | |
| 9 | g.101427567A>C | CA374265330 | ALDOB | c.455T>G (p.Leu152Arg) n.68-929T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427567A>G | CA5161598 | ALDOB | c.455T>C (p.Leu152Pro) n.68-929T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427567A>T | CA374265331 | ALDOB | c.455T>A (p.Leu152Gln) n.68-929T>A | |
| 9 | g.101427568G>A | CA466462901 | ALDOB | c.454C>T (p.Leu152=) n.68-930C>T | |
| 9 | g.101427568G>C | CA374265332 | ALDOB | c.454C>G (p.Leu152Val) n.68-930C>G | |
| 9 | g.101427568G>T | CA374265333 | ALDOB | c.454C>A (p.Leu152Met) n.68-930C>A | |
| 9 | g.101427569C>A | CA466462902 | ALDOB | c.453G>T (p.Val151=) n.68-931G>T | |
| 9 | g.101427569C= | CA1868280100 | ALDOB | c.453G= (p.Val151=) n.68-931G= | |
| 9 | g.101427569C>G | CA466462903 | ALDOB | c.453G>C (p.Val151=) n.68-931G>C | |
| 9 | g.101427569C>T | CA5161599 | ALDOB | c.453G>A (p.Val151=) n.68-931G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427570A= | CA1868280101 | ALDOB | c.452T= (p.Val151=) n.68-932T= | |
| 9 | g.101427570A>C | CA374265334 | ALDOB | c.452T>G (p.Val151Gly) n.68-932T>G | |
| 9 | g.101427570A>G | CA5161600 | ALDOB | c.452T>C (p.Val151Ala) n.68-932T>C | dbSNP ExAC gnomAD v2 |
| 9 | g.101427570A>T | CA374265335 | ALDOB | c.452T>A (p.Val151Glu) n.68-932T>A | |
| 9 | g.101427571C>A | CA374265336 | ALDOB | c.451G>T (p.Val151Leu) n.68-933G>T | |
| 9 | g.101427571C= | CA1868280102 | ALDOB | c.451G= (p.Val151=) n.68-933G= | |
| 9 | g.101427571C>G | CA5161601 | ALDOB | c.451G>C (p.Val151Leu) n.68-933G>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101427571C>T | CA374265337 | ALDOB | c.451G>A (p.Val151Met) n.68-933G>A | gnomAD v4 |
| 9 | g.101427572A>C | CA466462904 | ALDOB | c.450T>G (p.Ala150=) n.68-934T>G | |
| 9 | g.101427572A>G | CA466462906 | ALDOB | c.450T>C (p.Ala150=) n.68-934T>C | gnomAD v4 |
| 9 | g.101427572A>T | CA466462905 | ALDOB | c.450T>A (p.Ala150=) n.68-934T>A | ClinVar |
| 9 | g.101427573G>A | CA374265338 | ALDOB | c.449C>T (p.Ala150Val) n.68-935C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427573G>C | CA374265339 | ALDOB | c.449C>G (p.Ala150Gly) n.68-935C>G | |
| 9 | g.101427573G= | CA1868280103 | ALDOB | c.449C= (p.Ala150=) n.68-935C= | |
| 9 | g.101427573G>T | CA374265340 | ALDOB | c.449C>A (p.Ala150Asp) n.68-935C>A | |
| 9 | g.101427574C>A | CA374265341 | ALDOB | c.448G>T (p.Ala150Ser) n.68-936G>T | |
| 9 | g.101427574C= | CA1868280104 | ALDOB | c.448G= (p.Ala150=) n.68-936G= | |
| 9 | g.101427574C>G | CA339810 | ALDOB | c.448G>C (p.Ala150Pro) n.68-936G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427574C>T | CA374265342 | ALDOB | c.448G>A (p.Ala150Thr) n.68-936G>A | dbSNP gnomAD v4 |
| 9 | g.101427575A>C | CA466462909 | ALDOB | c.447T>G (p.Arg149=) n.68-937T>G | |
| 9 | g.101427575A>G | CA466462908 | ALDOB | c.447T>C (p.Arg149=) n.68-937T>C | gnomAD v4 COSMIC |
| 9 | g.101427575A>T | CA466462907 | ALDOB | c.447T>A (p.Arg149=) n.68-937T>A | |
| 9 | g.101427576C>A | CA5161603 | ALDOB | c.446G>T (p.Arg149Leu) n.68-938G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427576C= | CA1868280105 | ALDOB | c.446G= (p.Arg149=) n.68-938G= | |
| 9 | g.101427576C>G | CA374265343 | ALDOB | c.446G>C (p.Arg149Pro) n.68-938G>C | |
| 9 | g.101427576C>T | CA5161602 | ALDOB | c.446G>A (p.Arg149His) n.68-938G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427577G>A | CA5161604 | ALDOB | c.445C>T (p.Arg149Cys) n.68-939C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427577G>C | CA374265344 | ALDOB | c.445C>G (p.Arg149Gly) n.68-939C>G | |
| 9 | g.101427577G= | CA1868280106 | ALDOB | c.445C= (p.Arg149=) n.68-939C= | |
| 9 | g.101427577G>T | CA374265345 | ALDOB | c.445C>A (p.Arg149Ser) n.68-939C>A | |
| 9 | g.101427578C>A | CA374265346 | ALDOB | c.444G>T (p.Trp148Cys) n.68-940G>T | |
| 9 | g.101427578C= | CA1868280107 | ALDOB | c.444G= (p.Trp148=) n.68-940G= | |
| 9 | g.101427578C>G | CA374265347 | ALDOB | c.444G>C (p.Trp148Cys) n.68-940G>C | dbSNP gnomAD v4 |
| 9 | g.101427578C>T | CA16041285 | ALDOB | c.444G>A (p.Trp148Ter) n.68-940G>A | ClinVar dbSNP COSMIC |
| 9 | g.101427578_101427579delinsTT | CA645547393 | ALDOB | c.443_444delinsAA (p.Trp148Ter) n.68-941_68-940delinsAA | COSMIC |
| 9 | g.101427579C>A | CA374265348 | ALDOB | c.443G>T (p.Trp148Leu) n.68-941G>T | |
| 9 | g.101427579C>G | CA374265349 | ALDOB | c.443G>C (p.Trp148Ser) n.68-941G>C | |
| 9 | g.101427579C>T | CA374265350 | ALDOB | c.443G>A (p.Trp148Ter) n.68-941G>A | |
| 9 | g.101427580A= | CA1868280108 | ALDOB | c.442T= (p.Trp148=) n.68-942T= | |
| 9 | g.101427580A>C | CA196957398 | ALDOB | c.442T>G (p.Trp148Gly) n.68-942T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427580A>G | CA114314 | ALDOB | c.442T>C (p.Trp148Arg) n.68-942T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427580A>T | CA374265351 | ALDOB | c.442T>A (p.Trp148Arg) n.68-942T>A | |
| 9 | g.101427581C>A | CA374265352 | ALDOB | c.441G>T (p.Lys147Asn) n.68-943G>T | |
| 9 | g.101427581C= | CA1868280109 | ALDOB | c.441G= (p.Lys147=) n.68-943G= | |
| 9 | g.101427581C>G | CA374265353 | ALDOB | c.441G>C (p.Lys147Asn) n.68-943G>C | |
| 9 | g.101427581C>T | CA196957401 | ALDOB | c.441G>A (p.Lys147=) n.68-943G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427582T>A | CA374265354 | ALDOB | c.440A>T (p.Lys147Met) n.68-944A>T | |
| 9 | g.101427582T>C | CA374265355 | ALDOB | c.440A>G (p.Lys147Arg) n.68-944A>G | |
| 9 | g.101427582T>G | CA374265356 | ALDOB | c.440A>C (p.Lys147Thr) n.68-944A>C | |
| 9 | g.101427583T>A | CA374265357 | ALDOB | c.439A>T (p.Lys147Ter) n.68-945A>T | ClinVar dbSNP |
| 9 | g.101427583T>C | CA374265358 | ALDOB | c.439A>G (p.Lys147Glu) n.68-945A>G | |
| 9 | g.101427583T>G | CA374265359 | ALDOB | c.439A>C (p.Lys147Gln) n.68-945A>C | |
| 9 | g.101427583T= | CA1868280110 | ALDOB | c.439A= (p.Lys147=) n.68-945A= | |
| 9 | g.101427584C>A | CA466462910 | ALDOB | c.438G>T (p.Gly146=) n.68-946G>T | |
| 9 | g.101427584C>G | CA466462911 | ALDOB | c.438G>C (p.Gly146=) n.68-946G>C | ClinVar gnomAD v4 |
| 9 | g.101427584C>T | CA466462912 | ALDOB | c.438G>A (p.Gly146=) n.68-946G>A | COSMIC |
| 9 | g.101427585C>A | CA374265362 | ALDOB | c.437G>T (p.Gly146Val) n.68-947G>T | |
| 9 | g.101427585C>G | CA374265360 | ALDOB | c.437G>C (p.Gly146Ala) n.68-947G>C | |
| 9 | g.101427585C>T | CA374265361 | ALDOB | c.437G>A (p.Gly146Glu) n.68-947G>A | |
| 9 | g.101427586C>A | CA374265363 | ALDOB | c.436G>T (p.Gly146Trp) n.68-948G>T | |
| 9 | g.101427586C= | CA1868280111 | ALDOB | c.436G= (p.Gly146=) n.68-948G= | |
| 9 | g.101427586C>G | CA374265364 | ALDOB | c.436G>C (p.Gly146Arg) n.68-948G>C | |
| 9 | g.101427586C>T | CA5161605 | ALDOB | c.436G>A (p.Gly146Arg) n.68-948G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427587A>C | CA374265365 | ALDOB | c.435T>G (p.Phe145Leu) n.68-949T>G | |
| 9 | g.101427587A>G | CA466462913 | ALDOB | c.435T>C (p.Phe145=) n.68-949T>C | ClinVar dbSNP |
| 9 | g.101427587A>T | CA374265366 | ALDOB | c.435T>A (p.Phe145Leu) n.68-949T>A | |
| 9 | g.101427588A= | CA1868280112 | ALDOB | c.434T= (p.Phe145=) n.68-950T= | |
| 9 | g.101427588A>C | CA374265368 | ALDOB | c.434T>G (p.Phe145Cys) n.68-950T>G | |
| 9 | g.101427588A>G | CA5161606 | ALDOB | c.434T>C (p.Phe145Ser) n.68-950T>C | dbSNP ExAC gnomAD v2 |
| 9 | g.101427588A>T | CA374265367 | ALDOB | c.434T>A (p.Phe145Tyr) n.68-950T>A | |
| 9 | g.101427589A>C | CA374265369 | ALDOB | c.433T>G (p.Phe145Val) n.68-951T>G | |
| 9 | g.101427589A>G | CA374265370 | ALDOB | c.433T>C (p.Phe145Leu) n.68-951T>C | gnomAD v4 |
| 9 | g.101427589A>T | CA374265371 | ALDOB | c.433T>A (p.Phe145Ile) n.68-951T>A | |
| 9 | g.101427590G>A | CA466462914 | ALDOB | c.432C>T (p.Asp144=) n.68-952C>T | |
| 9 | g.101427590G>C | CA374265372 | ALDOB | c.432C>G (p.Asp144Glu) n.68-952C>G | |
| 9 | g.101427590G>T | CA374265373 | ALDOB | c.432C>A (p.Asp144Glu) n.68-952C>A | |
| 9 | g.101427591T>A | CA374265376 | ALDOB | c.431A>T (p.Asp144Val) n.68-953A>T | |
| 9 | g.101427591T>C | CA374265375 | ALDOB | c.431A>G (p.Asp144Gly) n.68-953A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427591T>G | CA374265374 | ALDOB | c.431A>C (p.Asp144Ala) n.68-953A>C | |
| 9 | g.101427591T= | CA1868280113 | ALDOB | c.431A= (p.Asp144=) n.68-953A= | |
| 9 | g.101427592C>A | CA374265377 | ALDOB | c.430G>T (p.Asp144Tyr) n.68-954G>T | |
| 9 | g.101427592C>G | CA374265378 | ALDOB | c.430G>C (p.Asp144His) n.68-954G>C | |
| 9 | g.101427592C>T | CA374265379 | ALDOB | c.430G>A (p.Asp144Asn) n.68-954G>A | |
| 9 | g.101427593A>C | CA466462915 | ALDOB | c.429T>G (p.Val143=) n.68-955T>G | |
| 9 | g.101427593A>G | CA466462917 | ALDOB | c.429T>C (p.Val143=) n.68-955T>C | |
| 9 | g.101427593A>T | CA466462916 | ALDOB | c.429T>A (p.Val143=) n.68-955T>A | |
| 9 | g.101427594A= | CA1868280114 | ALDOB | c.428T= (p.Val143=) n.68-956T= | |
| 9 | g.101427594A>C | CA374265380 | ALDOB | c.428T>G (p.Val143Gly) n.68-956T>G | |
| 9 | g.101427594A>G | CA196957406 | ALDOB | c.428T>C (p.Val143Ala) n.68-956T>C | ClinVar dbSNP |
| 9 | g.101427594A>T | CA374265381 | ALDOB | c.428T>A (p.Val143Asp) n.68-956T>A | |
| 9 | g.101427595del | CA2573143647 | ALDOB | c.427del (p.Val143LeufsTer10) n.68-957del | ClinVar dbSNP |
| 9 | g.101427595C>A | CA374265382 | ALDOB | c.427G>T (p.Val143Phe) n.68-957G>T | |
| 9 | g.101427595C= | CA1868280115 | ALDOB | c.427G= (p.Val143=) n.68-957G= | |
| 9 | g.101427595C>G | CA374265384 | ALDOB | c.427G>C (p.Val143Leu) n.68-957G>C | |
| 9 | g.101427595C>T | CA374265383 | ALDOB | c.427G>A (p.Val143Ile) n.68-957G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427596A= | CA1868280116 | ALDOB | c.426T= (p.Gly142=) n.68-958T= | |
| 9 | g.101427596A>C | CA466462918 | ALDOB | c.426T>G (p.Gly142=) n.68-958T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427596A>G | CA196957408 | ALDOB | c.426T>C (p.Gly142=) n.68-958T>C | ClinVar dbSNP |
| 9 | g.101427596A>T | CA466462919 | ALDOB | c.426T>A (p.Gly142=) n.68-958T>A | dbSNP |
| 9 | g.101427597C>A | CA374265385 | ALDOB | c.425G>T (p.Gly142Val) n.68-959G>T | |
| 9 | g.101427597C>G | CA374265386 | ALDOB | c.425G>C (p.Gly142Ala) n.68-959G>C | |
| 9 | g.101427597C>T | CA374265387 | ALDOB | c.425G>A (p.Gly142Asp) n.68-959G>A | |
| 9 | g.101427598C>A | CA374265388 | ALDOB | c.424G>T (p.Gly142Cys) n.68-960G>T | |
| 9 | g.101427598C>G | CA374265389 | ALDOB | c.424G>C (p.Gly142Arg) n.68-960G>C | |
| 9 | g.101427598C>T | CA374265390 | ALDOB | c.424G>A (p.Gly142Ser) n.68-960G>A | |
| 9 | g.101427599A>C | CA374265392 | ALDOB | c.423T>G (p.Asp141Glu) n.68-961T>G | |
| 9 | g.101427599A>G | CA466462920 | ALDOB | c.423T>C (p.Asp141=) n.68-961T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.101427599A>T | CA374265391 | ALDOB | c.423T>A (p.Asp141Glu) n.68-961T>A | |
| 9 | g.101427600T>A | CA374265393 | ALDOB | c.422A>T (p.Asp141Val) n.68-962A>T | |
| 9 | g.101427600T>C | CA374265394 | ALDOB | c.422A>G (p.Asp141Gly) n.68-962A>G | |
| 9 | g.101427600T>G | CA374265395 | ALDOB | c.422A>C (p.Asp141Ala) n.68-962A>C | |
| 9 | g.101427601C>A | CA374265396 | ALDOB | c.421G>T (p.Asp141Tyr) n.68-963G>T | |
| 9 | g.101427601C>G | CA374265397 | ALDOB | c.421G>C (p.Asp141His) n.68-963G>C | |
| 9 | g.101427601C>T | CA374265398 | ALDOB | c.421G>A (p.Asp141Asn) n.68-963G>A | gnomAD v4 |
| 9 | g.101427601_101427602delinsCT | CA1868280117 | ALDOB | c.420_421delinsAG (p.Lys140=) n.68-964_68-963delinsAG | |
| 9 | g.101427602T>A | CA374265399 | ALDOB | c.420A>T (p.Lys140Asn) n.68-964A>T | ClinVar |
| 9 | g.101427602T>C | CA466462921 | ALDOB | c.420A>G (p.Lys140=) n.68-964A>G | |
| 9 | g.101427602T>G | CA374265400 | ALDOB | c.420A>C (p.Lys140Asn) n.68-964A>C | |
| 9 | g.101427604del | CA16041286 | ALDOB | c.420del (p.Asp141MetfsTer12) n.68-964del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427603T>A | CA374265401 | ALDOB | c.419A>T (p.Lys140Ile) n.68-965A>T | |
| 9 | g.101427603T>C | CA374265402 | ALDOB | c.419A>G (p.Lys140Arg) n.68-965A>G | |
| 9 | g.101427603T>G | CA374265403 | ALDOB | c.419A>C (p.Lys140Thr) n.68-965A>C | |
| 9 | g.101427604T>A | CA374265404 | ALDOB | c.418A>T (p.Lys140Ter) n.68-966A>T | |
| 9 | g.101427604T>C | CA374265405 | ALDOB | c.418A>G (p.Lys140Glu) n.68-966A>G | |
| 9 | g.101427604T>G | CA374265406 | ALDOB | c.418A>C (p.Lys140Gln) n.68-966A>C | |
| 9 | g.101427605C>A | CA374265407 | ALDOB | c.417G>T (p.Lys139Asn) n.68-967G>T | COSMIC |
| 9 | g.101427605C>G | CA374265408 | ALDOB | c.417G>C (p.Lys139Asn) n.68-967G>C | |
| 9 | g.101427605C>T | CA466462922 | ALDOB | c.417G>A (p.Lys139=) n.68-967G>A | |
| 9 | g.101427606T>A | CA374265409 | ALDOB | c.416A>T (p.Lys139Met) n.68-968A>T | |
| 9 | g.101427606T>C | CA374265410 | ALDOB | c.416A>G (p.Lys139Arg) n.68-968A>G | |
| 9 | g.101427606T>G | CA374265411 | ALDOB | c.416A>C (p.Lys139Thr) n.68-968A>C | |
| 9 | g.101427607T>A | CA374265412 | ALDOB | c.415A>T (p.Lys139Ter) n.68-969A>T | |
| 9 | g.101427607T>C | CA5161607 | ALDOB | c.415A>G (p.Lys139Glu) n.68-969A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427607T>G | CA374265413 | ALDOB | c.415A>C (p.Lys139Gln) n.68-969A>C | gnomAD v4 |
| 9 | g.101427607T= | CA1868280118 | ALDOB | c.415A= (p.Lys139=) n.68-969A= | |
| 9 | g.101427608del | CA2691007537 | ALDOB | c.414del (p.Tyr138Ter) n.68-970del | gnomAD v4 |
| 9 | g.101427608G>A | CA466462923 | ALDOB | c.414C>T (p.Tyr138=) n.68-970C>T | |
| 9 | g.101427608G>C | CA374265414 | ALDOB | c.414C>G (p.Tyr138Ter) n.68-970C>G | |
| 9 | g.101427608G>T | CA374265415 | ALDOB | c.414C>A (p.Tyr138Ter) n.68-970C>A | ClinVar |
| 9 | g.101427609T>A | CA374265416 | ALDOB | c.413A>T (p.Tyr138Phe) n.68-971A>T | |
| 9 | g.101427609T>C | CA5161608 | ALDOB | c.413A>G (p.Tyr138Cys) n.68-971A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427609T>G | CA374265417 | ALDOB | c.413A>C (p.Tyr138Ser) n.68-971A>C | |
| 9 | g.101427609T= | CA1868280119 | ALDOB | c.413A= (p.Tyr138=) n.68-971A= | |
| 9 | g.101427610A= | CA1868280120 | ALDOB | c.412T= (p.Tyr138=) n.68-972T= | |
| 9 | g.101427610A>C | CA374265418 | ALDOB | c.412T>G (p.Tyr138Asp) n.68-972T>G | |
| 9 | g.101427610A>G | CA374265419 | ALDOB | c.412T>C (p.Tyr138His) n.68-972T>C | dbSNP |
| 9 | g.101427610A>T | CA374265420 | ALDOB | c.412T>A (p.Tyr138Asn) n.68-972T>A | |
| 9 | g.101427611C>A | CA374265421 | ALDOB | c.411G>T (p.Gln137His) n.68-973G>T | |
| 9 | g.101427611C>G | CA374265422 | ALDOB | c.411G>C (p.Gln137His) n.68-973G>C | |
| 9 | g.101427611C>T | CA466462924 | ALDOB | c.411G>A (p.Gln137=) n.68-973G>A | |
| 9 | g.101427612T>A | CA374265423 | ALDOB | c.410A>T (p.Gln137Leu) n.68-974A>T | |
| 9 | g.101427612T>C | CA5161609 | ALDOB | c.410A>G (p.Gln137Arg) n.68-974A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427612T>G | CA374265424 | ALDOB | c.410A>C (p.Gln137Pro) n.68-974A>C | |
| 9 | g.101427612T= | CA1868280121 | ALDOB | c.410A= (p.Gln137=) n.68-974A= | |
| 9 | g.101427613G>A | CA374265427 | ALDOB | c.409C>T (p.Gln137Ter) n.68-975C>T | |
| 9 | g.101427613G>C | CA374265426 | ALDOB | c.409C>G (p.Gln137Glu) n.68-975C>G | |
| 9 | g.101427613G>T | CA374265425 | ALDOB | c.409C>A (p.Gln137Lys) n.68-975C>A | |
| 9 | g.101427614A>C | CA466462927 | ALDOB | c.408T>G (p.Ala136=) n.68-976T>G | |
| 9 | g.101427614A>G | CA466462925 | ALDOB | c.408T>C (p.Ala136=) n.68-976T>C | |
| 9 | g.101427614A>T | CA466462926 | ALDOB | c.408T>A (p.Ala136=) n.68-976T>A | |
| 9 | g.101427615G>A | CA374265428 | ALDOB | c.407C>T (p.Ala136Val) n.68-977C>T | dbSNP gnomAD v4 |
| 9 | g.101427615G>C | CA5161610 | ALDOB | c.407C>G (p.Ala136Gly) n.68-977C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427615G= | CA1868280122 | ALDOB | c.407C= (p.Ala136=) n.68-977C= | |
| 9 | g.101427615G>T | CA374265429 | ALDOB | c.407C>A (p.Ala136Asp) n.68-977C>A | |
| 9 | g.101427616C>A | CA374265430 | ALDOB | c.406G>T (p.Ala136Ser) n.68-978G>T | |
| 9 | g.101427616C= | CA1868280123 | ALDOB | c.406G= (p.Ala136=) n.68-978G= | |
| 9 | g.101427616C>G | CA374265431 | ALDOB | c.406G>C (p.Ala136Pro) n.68-978G>C | |
| 9 | g.101427616C>T | CA374265432 | ALDOB | c.406G>A (p.Ala136Thr) n.68-978G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427617A>C | CA374265433 | ALDOB | c.405T>G (p.Cys135Trp) n.68-979T>G | |
| 9 | g.101427617A>G | CA466462928 | ALDOB | c.405T>C (p.Cys135=) n.68-979T>C | |
| 9 | g.101427617A>T | CA374265434 | ALDOB | c.405T>A (p.Cys135Ter) n.68-979T>A | |
| 9 | g.101427618C>A | CA374265435 | ALDOB | c.404G>T (p.Cys135Phe) n.68-980G>T | |
| 9 | g.101427618C= | CA1868280124 | ALDOB | c.404G= (p.Cys135=) n.68-980G= | |
| 9 | g.101427618C>G | CA374265436 | ALDOB | c.404G>C (p.Cys135Ser) n.68-980G>C | gnomAD v4 |
| 9 | g.101427618C>T | CA374265437 | ALDOB | c.404G>A (p.Cys135Tyr) n.68-980G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427619A>C | CA374265438 | ALDOB | c.403T>G (p.Cys135Gly) n.68-981T>G | |
| 9 | g.101427619A>G | CA374265439 | ALDOB | c.403T>C (p.Cys135Arg) n.68-981T>C | ClinVar dbSNP |
| 9 | g.101427619A>T | CA374265440 | ALDOB | c.403T>A (p.Cys135Ser) n.68-981T>A | |
| 9 | g.101427620G>A | CA466462929 | ALDOB | c.402C>T (p.Arg134=) n.68-982C>T | ClinVar |
| 9 | g.101427620G>C | CA466462930 | ALDOB | c.402C>G (p.Arg134=) n.68-982C>G | |
| 9 | g.101427620G>T | CA466462931 | ALDOB | c.402C>A (p.Arg134=) n.68-982C>A | |
| 9 | g.101427621C>A | CA5161611 | ALDOB | c.401G>T (p.Arg134Leu) n.68-983G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427621C= | CA1868280125 | ALDOB | c.401G= (p.Arg134=) n.68-983G= | |
| 9 | g.101427621C>G | CA374265441 | ALDOB | c.401G>C (p.Arg134Pro) n.68-983G>C | |
| 9 | g.101427621C>T | CA5161612 | ALDOB | c.401G>A (p.Arg134His) n.68-983G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427622G>A | CA5161614 | ALDOB | c.400C>T (p.Arg134Cys) n.68-984C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427622G>C | CA374265442 | ALDOB | c.400C>G (p.Arg134Gly) n.68-984C>G | |
| 9 | g.101427622G= | CA1868280126 | ALDOB | c.400C= (p.Arg134=) n.68-984C= | |
| 9 | g.101427622G>T | CA5161613 | ALDOB | c.400C>A (p.Arg134Ser) n.68-984C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427623C>A | CA374265443 | ALDOB | c.399G>T (p.Glu133Asp) n.68-985G>T | |
| 9 | g.101427623C= | CA1868280127 | ALDOB | c.399G= (p.Glu133=) n.68-985G= | |
| 9 | g.101427623C>G | CA374265444 | ALDOB | c.399G>C (p.Glu133Asp) n.68-985G>C | |
| 9 | g.101427623C>T | CA466462932 | ALDOB | c.399G>A (p.Glu133=) n.68-985G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427624T>A | CA374265445 | ALDOB | c.398A>T (p.Glu133Val) n.68-986A>T | |
| 9 | g.101427624T>C | CA374265446 | ALDOB | c.398A>G (p.Glu133Gly) n.68-986A>G | |
| 9 | g.101427624T>G | CA374265447 | ALDOB | c.398A>C (p.Glu133Ala) n.68-986A>C | |
| 9 | g.101427625del | CA2691007538 | ALDOB | c.397del (p.Glu133SerfsTer20) n.68-987del | gnomAD v4 |
| 9 | g.101427625C>A | CA374265448 | ALDOB | c.397G>T (p.Glu133Ter) n.68-987G>T | |
| 9 | g.101427625C>G | CA374265449 | ALDOB | c.397G>C (p.Glu133Gln) n.68-987G>C | |
| 9 | g.101427625C>T | CA374265450 | ALDOB | c.397G>A (p.Glu133Lys) n.68-987G>A | |
| 9 | g.101427626T>A | CA466462933 | ALDOB | c.396A>T (p.Ser132=) n.68-988A>T | |
| 9 | g.101427626T>C | CA5161615 | ALDOB | c.396A>G (p.Ser132=) n.68-988A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427626T>G | CA466462934 | ALDOB | c.396A>C (p.Ser132=) n.68-988A>C | |
| 9 | g.101427626T= | CA1868280128 | ALDOB | c.396A= (p.Ser132=) n.68-988A= | |
| 9 | g.101427627G>A | CA374265453 | ALDOB | c.395C>T (p.Ser132Leu) n.68-989C>T | COSMIC |
| 9 | g.101427627G>C | CA374265452 | ALDOB | c.395C>G (p.Ser132Ter) n.68-989C>G | COSMIC |
| 9 | g.101427627G>T | CA374265451 | ALDOB | c.395C>A (p.Ser132Ter) n.68-989C>A | |
| 9 | g.101427627_101427628insT | CA2691007539 | ALDOB | c.394_395insA (p.Ser132TyrfsTer13) n.68-990_68-989insA | gnomAD v4 |
| 9 | g.101427628A>C | CA374265454 | ALDOB | c.394T>G (p.Ser132Ala) n.68-990T>G | |
| 9 | g.101427628A>G | CA374265455 | ALDOB | c.394T>C (p.Ser132Pro) n.68-990T>C | |
| 9 | g.101427628A>T | CA374265456 | ALDOB | c.394T>A (p.Ser132Thr) n.68-990T>A | |
| 9 | g.101427629G>A | CA466462937 | ALDOB | c.393C>T (p.Leu131=) n.68-991C>T | COSMIC |
| 9 | g.101427629G>C | CA466462935 | ALDOB | c.393C>G (p.Leu131=) n.68-991C>G | gnomAD v4 |
| 9 | g.101427629G>T | CA466462936 | ALDOB | c.393C>A (p.Leu131=) n.68-991C>A | |
| 9 | g.101427630A>C | CA374265457 | ALDOB | c.392T>G (p.Leu131Arg) n.68-992T>G | |
| 9 | g.101427630A>G | CA374265458 | ALDOB | c.392T>C (p.Leu131Pro) n.68-992T>C | |
| 9 | g.101427630A>T | CA374265459 | ALDOB | c.392T>A (p.Leu131His) n.68-992T>A | |
| 9 | g.101427631G>A | CA374265460 | ALDOB | c.391C>T (p.Leu131Phe) n.68-993C>T | |
| 9 | g.101427631G>C | CA374265461 | ALDOB | c.391C>G (p.Leu131Val) n.68-993C>G | gnomAD v4 |
| 9 | g.101427631G>T | CA374265462 | ALDOB | c.391C>A (p.Leu131Ile) n.68-993C>A | |
| 9 | g.101427632G>A | CA466462938 | ALDOB | c.390C>T (p.Gly130=) n.68-994C>T | |
| 9 | g.101427632G>C | CA466462939 | ALDOB | c.390C>G (p.Gly130=) n.68-994C>G | |
| 9 | g.101427632G>T | CA466462940 | ALDOB | c.390C>A (p.Gly130=) n.68-994C>A | |
| 9 | g.101427632_101427633delinsGC | CA1868280129 | ALDOB | c.389_390delinsGC (p.Gly130=) n.68-995_68-994delinsGC | |
| 9 | g.101427633C>A | CA374265463 | ALDOB | c.389G>T (p.Gly130Val) n.68-995G>T | |
| 9 | g.101427633C= | CA1868280130 | ALDOB | c.389G= (p.Gly130=) n.68-995G= | |
| 9 | g.101427633C>G | CA196957422 | ALDOB | c.389G>C (p.Gly130Ala) n.68-995G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427633C>T | CA374265464 | ALDOB | c.389G>A (p.Gly130Asp) n.68-995G>A | |
| 9 | g.101427634del | CA590045546 | ALDOB | c.389del (p.Gly130AlafsTer23) n.68-995del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427634C>A | CA374265465 | ALDOB | c.388G>T (p.Gly130Cys) n.68-996G>T | |
| 9 | g.101427634C>G | CA374265467 | ALDOB | c.388G>C (p.Gly130Arg) n.68-996G>C | |
| 9 | g.101427634C>T | CA374265466 | ALDOB | c.388G>A (p.Gly130Ser) n.68-996G>A | gnomAD v4 COSMIC |
| 9 | g.101427635A>C | CA374265468 | ALDOB | c.387T>G (p.Asp129Glu) n.68-997T>G | |
| 9 | g.101427635A>G | CA466462941 | ALDOB | c.387T>C (p.Asp129=) n.68-997T>C | |
| 9 | g.101427635A>T | CA374265469 | ALDOB | c.387T>A (p.Asp129Glu) n.68-997T>A | |
| 9 | g.101427635dup | CA2527005457 | ALDOB | c.387dup (p.Gly130TrpfsTer15) n.68-997dup | |
| 9 | g.101427636T>A | CA374265470 | ALDOB | c.386A>T (p.Asp129Val) n.68-998A>T | |
| 9 | g.101427636T>C | CA374265472 | ALDOB | c.386A>G (p.Asp129Gly) n.68-998A>G | gnomAD v4 |
| 9 | g.101427636T>G | CA374265471 | ALDOB | c.386A>C (p.Asp129Ala) n.68-998A>C | |
| 9 | g.101427637C>A | CA374265473 | ALDOB | c.385G>T (p.Asp129Tyr) n.68-999G>T | |
| 9 | g.101427637C>G | CA374265474 | ALDOB | c.385G>C (p.Asp129His) n.68-999G>C | |
| 9 | g.101427637C>T | CA374265475 | ALDOB | c.385G>A (p.Asp129Asn) n.68-999G>A | |
| 9 | g.101427638A= | CA1868280131 | ALDOB | c.384T= (p.Leu128=) n.68-1000T= | |
| 9 | g.101427638A>C | CA466462942 | ALDOB | c.384T>G (p.Leu128=) n.68-1000T>G | |
| 9 | g.101427638A>G | CA466462943 | ALDOB | c.384T>C (p.Leu128=) n.68-1000T>C | dbSNP |
| 9 | g.101427638A>T | CA466462944 | ALDOB | c.384T>A (p.Leu128=) n.68-1000T>A | |
| 9 | g.101427639A>C | CA374265476 | ALDOB | c.383T>G (p.Leu128Arg) n.68-1001T>G | |
| 9 | g.101427639A>G | CA374265477 | ALDOB | c.383T>C (p.Leu128Pro) n.68-1001T>C | |
| 9 | g.101427639A>T | CA374265478 | ALDOB | c.383T>A (p.Leu128His) n.68-1001T>A | COSMIC |
| 9 | g.101427640G>A | CA374265479 | ALDOB | c.382C>T (p.Leu128Phe) n.68-1002C>T | COSMIC |
| 9 | g.101427640G>C | CA374265480 | ALDOB | c.382C>G (p.Leu128Val) n.68-1002C>G | |
| 9 | g.101427640G>T | CA374265481 | ALDOB | c.382C>A (p.Leu128Ile) n.68-1002C>A | |
| 9 | g.101427641C>A | CA466462945 | ALDOB | c.381G>T (p.Gly127=) n.68-1003G>T | |
| 9 | g.101427641C= | CA1868280132 | ALDOB | c.381G= (p.Gly127=) n.68-1003G= | |
| 9 | g.101427641C>G | CA5161616 | ALDOB | c.381G>C (p.Gly127=) n.68-1003G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427641C>T | CA5161617 | ALDOB | c.381G>A (p.Gly127=) n.68-1003G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427642C>A | CA374265484 | ALDOB | c.380G>T (p.Gly127Val) n.68-1004G>T | |
| 9 | g.101427642C>G | CA374265483 | ALDOB | c.380G>C (p.Gly127Ala) n.68-1004G>C | |
| 9 | g.101427642C>T | CA374265482 | ALDOB | c.380G>A (p.Gly127Glu) n.68-1004G>A | |
| 9 | g.101427643C>A | CA374265485 | ALDOB | c.380-1G>T (n.380-1G>T) n.68-1005G>T | |
| 9 | g.101427643C= | CA1868280133 | ALDOB | c.380-1G= (n.380-1G=) n.68-1005G= | |
| 9 | g.101427643C>G | CA374265486 | ALDOB | c.380-1G>C (n.380-1G>C) n.68-1005G>C | gnomAD v4 |
| 9 | g.101427643C>T | CA374265487 | ALDOB | c.380-1G>A (n.380-1G>A) n.68-1005G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.101427644T>A | CA374265488 | ALDOB | c.380-2A>T (n.380-2A>T) n.68-1006A>T | |
| 9 | g.101427644T>C | CA374265489 | ALDOB | c.380-2A>G (n.380-2A>G) n.68-1006A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101427644T>G | CA374265490 | ALDOB | c.380-2A>C (n.380-2A>C) n.68-1006A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427644T= | CA1868280134 | ALDOB | c.380-2A= (n.380-2A=) n.68-1006A= | |
| 9 | g.101427645G>A | CA2579403700 | ALDOB | c.380-3C>T (n.380-3C>T) n.68-1007C>T | gnomAD v4 |
| 9 | g.101427646C>A | CA590045547 | ALDOB | c.380-4G>T (n.380-4G>T) n.68-1008G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101427646C= | CA1868280135 | ALDOB | c.380-4G= (n.380-4G=) n.68-1008G= | |
| 9 | g.101427646C>T | CA5161618 | ALDOB | c.380-4G>A (n.380-4G>A) n.68-1008G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101427647A>G | CA2691007540 | ALDOB | c.380-5T>C (n.380-5T>C) n.68-1009T>C | gnomAD v4 |
| 9 | g.101427651C>A | CA2739264792 | ALDOB | c.380-9G>T (n.380-9G>T) n.68-1013G>T | ClinVar |
| 9 | g.101427653C>A | CA2691007541 | ALDOB | c.380-11G>T (n.380-11G>T) n.68-1015G>T | gnomAD v4 |
| 9 | g.101427654A= | CA1868280136 | ALDOB | c.380-12T= (n.380-12T=) n.68-1016T= | |
| 9 | g.101427654A>C | CA5161619 | ALDOB | c.380-12T>G (n.380-12T>G) n.68-1016T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101427654A>G | CA2580079284 | ALDOB | c.380-12T>C (n.380-12T>C) n.68-1016T>C | ClinVar gnomAD v4 |
| 9 | g.101427655A>G | CA2691007542 | ALDOB | c.380-13T>C (n.380-13T>C) n.68-1017T>C | gnomAD v4 |