Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
9 | g.101427471A>G | CA2739264791 | ALDOB | c.540+11T>C (n.540+11T>C) n.68-833T>C | ClinVar |
9 | g.101427472G>T | CA2691007460 | ALDOB | c.540+10C>A (n.540+10C>A) n.68-834C>A | gnomAD v4 |
9 | g.101427473G= | CA1868280050 | ALDOB | c.540+9C= (n.540+9C=) n.68-835C= | |
9 | g.101427473G>T | CA196957330 | ALDOB | c.540+9C>A (n.540+9C>A) n.68-835C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427473_101427481delinsGCAGAGCAC | CA1868280049 | ALDOB | c.540+1_540+9delinsGTGCTCTGC (n.540+1_540+9delinsGTGCTCTGC) n.68-843_68-835delinsGTGCTCTGC | |
9 | g.101427475_101427482del | CA1868280051 | ALDOB | c.540+1_540+8del n.68-843_68-836del | dbSNP |
9 | g.101427475A>G | CA2785321974 | ALDOB | c.540+7T>C (n.540+7T>C) n.68-837T>C | |
9 | g.101427476G>A | CA2579403699 | ALDOB | c.540+6C>T (n.540+6C>T) n.68-838C>T | |
9 | g.101427476G>T | CA2691007461 | ALDOB | c.540+6C>A (n.540+6C>A) n.68-838C>A | gnomAD v4 |
9 | g.101427478G>A | CA1127397486 | ALDOB | c.540+4C>T (n.540+4C>T) n.68-840C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427478G= | CA1868280052 | ALDOB | c.540+4C= (n.540+4C=) n.68-840C= | |
9 | g.101427480A>C | CA374265157 | ALDOB | c.540+2T>G (n.540+2T>G) n.68-842T>G | |
9 | g.101427480A>G | CA374265156 | ALDOB | c.540+2T>C (n.540+2T>C) n.68-842T>C | |
9 | g.101427480A>T | CA374265158 | ALDOB | c.540+2T>A (n.540+2T>A) n.68-842T>A | |
9 | g.101427481C>A | CA374265159 | ALDOB | c.540+1G>T (n.540+1G>T) n.68-843G>T | |
9 | g.101427481C>G | CA374265161 | ALDOB | c.540+1G>C (n.540+1G>C) n.68-843G>C | ClinVar dbSNP gnomAD v4 |
9 | g.101427481C>T | CA374265160 | ALDOB | c.540+1G>A (n.540+1G>A) n.68-843G>A | gnomAD v4 |
9 | g.101427482C>A | CA374265162 | ALDOB | c.540G>T (p.Gln180His) n.68-844G>T | |
9 | g.101427482C>G | CA374265163 | ALDOB | c.540G>C (p.Gln180His) n.68-844G>C | |
9 | g.101427482C>T | CA466462849 | ALDOB | c.540G>A (p.Gln180=) n.68-844G>A | COSMIC |
9 | g.101427483del | CA2580079282 | ALDOB | c.539del (p.Gln180ArgfsTer12) n.68-845del | ClinVar |
9 | g.101427483T>A | CA374265164 | ALDOB | c.539A>T (p.Gln180Leu) n.68-845A>T | |
9 | g.101427483T>C | CA374265165 | ALDOB | c.539A>G (p.Gln180Arg) n.68-845A>G | gnomAD v4 |
9 | g.101427483T>G | CA374265166 | ALDOB | c.539A>C (p.Gln180Pro) n.68-845A>C | |
9 | g.101427484G>A | CA374265167 | ALDOB | c.538C>T (p.Gln180Ter) n.68-846C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427484G>C | CA374265168 | ALDOB | c.538C>G (p.Gln180Glu) n.68-846C>G | |
9 | g.101427484G= | CA1868280053 | ALDOB | c.538C= (p.Gln180=) n.68-846C= | |
9 | g.101427484G>T | CA5161565 | ALDOB | c.538C>A (p.Gln180Lys) n.68-846C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427485C>A | CA374265169 | ALDOB | c.537G>T (p.Gln179His) n.68-847G>T | |
9 | g.101427485C= | CA1868280054 | ALDOB | c.537G= (p.Gln179=) n.68-847G= | |
9 | g.101427485C>G | CA374265170 | ALDOB | c.537G>C (p.Gln179His) n.68-847G>C | |
9 | g.101427485C>T | CA5161566 | ALDOB | c.537G>A (p.Gln179=) n.68-847G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427486T>A | CA374265173 | ALDOB | c.536A>T (p.Gln179Leu) n.68-848A>T | |
9 | g.101427486T>C | CA374265171 | ALDOB | c.536A>G (p.Gln179Arg) n.68-848A>G | |
9 | g.101427486T>G | CA374265172 | ALDOB | c.536A>C (p.Gln179Pro) n.68-848A>C | gnomAD v4 |
9 | g.101427487G>A | CA374265174 | ALDOB | c.535C>T (p.Gln179Ter) n.68-849C>T | gnomAD v4 |
9 | g.101427487G>C | CA374265175 | ALDOB | c.535C>G (p.Gln179Glu) n.68-849C>G | |
9 | g.101427487G>T | CA374265176 | ALDOB | c.535C>A (p.Gln179Lys) n.68-849C>A | COSMIC |
9 | g.101427488A>C | CA374265177 | ALDOB | c.534T>G (p.Cys178Trp) n.68-850T>G | |
9 | g.101427488A>G | CA466462850 | ALDOB | c.534T>C (p.Cys178=) n.68-850T>C | |
9 | g.101427488A>T | CA374265178 | ALDOB | c.534T>A (p.Cys178Ter) n.68-850T>A | |
9 | g.101427489C>A | CA374265179 | ALDOB | c.533G>T (p.Cys178Phe) n.68-851G>T | gnomAD v4 |
9 | g.101427489C>G | CA374265180 | ALDOB | c.533G>C (p.Cys178Ser) n.68-851G>C | |
9 | g.101427489C>T | CA374265181 | ALDOB | c.533G>A (p.Cys178Tyr) n.68-851G>A | gnomAD v4 |
9 | g.101427490A>C | CA374265182 | ALDOB | c.532T>G (p.Cys178Gly) n.68-852T>G | |
9 | g.101427490A>G | CA374265183 | ALDOB | c.532T>C (p.Cys178Arg) n.68-852T>C | ClinVar dbSNP |
9 | g.101427490A>T | CA374265184 | ALDOB | c.532T>A (p.Cys178Ser) n.68-852T>A | |
9 | g.101427491G>A | CA466462851 | ALDOB | c.531C>T (p.Ile177=) n.68-853C>T | ClinVar dbSNP |
9 | g.101427491G>C | CA374265185 | ALDOB | c.531C>G (p.Ile177Met) n.68-853C>G | |
9 | g.101427491G= | CA1868280055 | ALDOB | c.531C= (p.Ile177=) n.68-853C= | |
9 | g.101427491G>T | CA5161567 | ALDOB | c.531C>A (p.Ile177=) n.68-853C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427492A= | CA1868280056 | ALDOB | c.530T= (p.Ile177=) n.68-854T= | |
9 | g.101427492A>C | CA374265186 | ALDOB | c.530T>G (p.Ile177Ser) n.68-854T>G | |
9 | g.101427492A>G | CA374265187 | ALDOB | c.530T>C (p.Ile177Thr) n.68-854T>C | |
9 | g.101427492A>T | CA5161568 | ALDOB | c.530T>A (p.Ile177Asn) n.68-854T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427493T>A | CA374265188 | ALDOB | c.529A>T (p.Ile177Phe) n.68-855A>T | |
9 | g.101427493T>C | CA5161570 | ALDOB | c.529A>G (p.Ile177Val) n.68-855A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427493T>G | CA5161569 | ALDOB | c.529A>C (p.Ile177Leu) n.68-855A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427493T= | CA1868280057 | ALDOB | c.529A= (p.Ile177=) n.68-855A= | |
9 | g.101427494G>A | CA466462852 | ALDOB | c.528C>T (p.Ser176=) n.68-856C>T | |
9 | g.101427494G>C | CA374265189 | ALDOB | c.528C>G (p.Ser176Arg) n.68-856C>G | |
9 | g.101427494G>T | CA374265190 | ALDOB | c.528C>A (p.Ser176Arg) n.68-856C>A | |
9 | g.101427495C>A | CA374265191 | ALDOB | c.527G>T (p.Ser176Ile) n.68-857G>T | |
9 | g.101427495C= | CA1868280058 | ALDOB | c.527G= (p.Ser176=) n.68-857G= | |
9 | g.101427495C>G | CA374265192 | ALDOB | c.527G>C (p.Ser176Thr) n.68-857G>C | |
9 | g.101427495C>T | CA374265193 | ALDOB | c.527G>A (p.Ser176Asn) n.68-857G>A | dbSNP |
9 | g.101427496T>A | CA374265196 | ALDOB | c.526A>T (p.Ser176Cys) n.68-858A>T | |
9 | g.101427496T>C | CA374265195 | ALDOB | c.526A>G (p.Ser176Gly) n.68-858A>G | gnomAD v4 |
9 | g.101427496T>G | CA374265194 | ALDOB | c.526A>C (p.Ser176Arg) n.68-858A>C | |
9 | g.101427497G>A | CA5161571 | ALDOB | c.525C>T (p.Ala175=) n.68-859C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427497G>C | CA466462853 | ALDOB | c.525C>G (p.Ala175=) n.68-859C>G | |
9 | g.101427497G= | CA1868280059 | ALDOB | c.525C= (p.Ala175=) n.68-859C= | |
9 | g.101427497G>T | CA466462854 | ALDOB | c.525C>A (p.Ala175=) n.68-859C>A | |
9 | g.101427498G>A | CA374265197 | ALDOB | c.524C>T (p.Ala175Val) n.68-860C>T | gnomAD v4 |
9 | g.101427498G>C | CA374265198 | ALDOB | c.524C>G (p.Ala175Gly) n.68-860C>G | |
9 | g.101427498G= | CA1868280060 | ALDOB | c.524C= (p.Ala175=) n.68-860C= | |
9 | g.101427498G>T | CA339811 | ALDOB | c.524C>A (p.Ala175Asp) n.68-860C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427499C>A | CA374265199 | ALDOB | c.523G>T (p.Ala175Ser) n.68-861G>T | |
9 | g.101427499C= | CA1868280061 | ALDOB | c.523G= (p.Ala175=) n.68-861G= | |
9 | g.101427499C>G | CA5161573 | ALDOB | c.523G>C (p.Ala175Pro) n.68-861G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427499C>T | CA5161572 | ALDOB | c.523G>A (p.Ala175Thr) n.68-861G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101427500G>A | CA5161574 | ALDOB | c.522C>T (p.Tyr174=) n.68-862C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427500G>C | CA374265200 | ALDOB | c.522C>G (p.Tyr174Ter) n.68-862C>G | ClinVar dbSNP gnomAD v4 |
9 | g.101427500G= | CA1868280062 | ALDOB | c.522C= (p.Tyr174=) n.68-862C= | |
9 | g.101427500G>T | CA374265201 | ALDOB | c.522C>A (p.Tyr174Ter) n.68-862C>A | gnomAD v4 |
9 | g.101427501T>A | CA374265202 | ALDOB | c.521A>T (p.Tyr174Phe) n.68-863A>T | |
9 | g.101427501T>C | CA374265203 | ALDOB | c.521A>G (p.Tyr174Cys) n.68-863A>G | COSMIC |
9 | g.101427501T>G | CA196957340 | ALDOB | c.521A>C (p.Tyr174Ser) n.68-863A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427501T= | CA1868280063 | ALDOB | c.521A= (p.Tyr174=) n.68-863A= | |
9 | g.101427502A= | CA1868280064 | ALDOB | c.520T= (p.Tyr174=) n.68-864T= | |
9 | g.101427502A>C | CA374265205 | ALDOB | c.520T>G (p.Tyr174Asp) n.68-864T>G | |
9 | g.101427502A>G | CA196957342 | ALDOB | c.520T>C (p.Tyr174His) n.68-864T>C | dbSNP |
9 | g.101427502A>T | CA374265204 | ALDOB | c.520T>A (p.Tyr174Asn) n.68-864T>A | |
9 | g.101427503G>A | CA466462855 | ALDOB | c.519C>T (p.Arg173=) n.68-865C>T | |
9 | g.101427503G>C | CA466462856 | ALDOB | c.519C>G (p.Arg173=) n.68-865C>G | |
9 | g.101427503G>T | CA466462857 | ALDOB | c.519C>A (p.Arg173=) n.68-865C>A | |
9 | g.101427504C>A | CA374265207 | ALDOB | c.518G>T (p.Arg173Leu) n.68-866G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427504C= | CA1868280065 | ALDOB | c.518G= (p.Arg173=) n.68-866G= | |
9 | g.101427504C>G | CA374265206 | ALDOB | c.518G>C (p.Arg173Pro) n.68-866G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427504C>T | CA5161575 | ALDOB | c.518G>A (p.Arg173His) n.68-866G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427505G>A | CA5161577 | ALDOB | c.517C>T (p.Arg173Cys) n.68-867C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101427505G>C | CA374265208 | ALDOB | c.517C>G (p.Arg173Gly) n.68-867C>G | gnomAD v4 |
9 | g.101427505G= | CA1868280066 | ALDOB | c.517C= (p.Arg173=) n.68-867C= | |
9 | g.101427505G>T | CA5161576 | ALDOB | c.517C>A (p.Arg173Ser) n.68-867C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427506A>C | CA466462858 | ALDOB | c.516T>G (p.Ala172=) n.68-868T>G | |
9 | g.101427506A>G | CA466462859 | ALDOB | c.516T>C (p.Ala172=) n.68-868T>C | |
9 | g.101427506A>T | CA466462860 | ALDOB | c.516T>A (p.Ala172=) n.68-868T>A | |
9 | g.101427507G>A | CA374265209 | ALDOB | c.515C>T (p.Ala172Val) n.68-869C>T | |
9 | g.101427507G>C | CA374265210 | ALDOB | c.515C>G (p.Ala172Gly) n.68-869C>G | |
9 | g.101427507G>T | CA374265211 | ALDOB | c.515C>A (p.Ala172Asp) n.68-869C>A | |
9 | g.101427508C>A | CA374265212 | ALDOB | c.514G>T (p.Ala172Ser) n.68-870G>T | |
9 | g.101427508C>G | CA374265213 | ALDOB | c.514G>C (p.Ala172Pro) n.68-870G>C | |
9 | g.101427508C>T | CA374265214 | ALDOB | c.514G>A (p.Ala172Thr) n.68-870G>A | COSMIC |
9 | g.101427509C>A | CA466462861 | ALDOB | c.513G>T (p.Leu171=) n.68-871G>T | |
9 | g.101427509C>G | CA466462862 | ALDOB | c.513G>C (p.Leu171=) n.68-871G>C | |
9 | g.101427509C>T | CA466462863 | ALDOB | c.513G>A (p.Leu171=) n.68-871G>A | |
9 | g.101427510A= | CA1868280067 | ALDOB | c.512T= (p.Leu171=) n.68-872T= | |
9 | g.101427510A>C | CA374265215 | ALDOB | c.512T>G (p.Leu171Arg) n.68-872T>G | |
9 | g.101427510A>G | CA374265216 | ALDOB | c.512T>C (p.Leu171Pro) n.68-872T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427510A>T | CA374265217 | ALDOB | c.512T>A (p.Leu171Gln) n.68-872T>A | |
9 | g.101427511G>A | CA466462865 | ALDOB | c.511C>T (p.Leu171=) n.68-873C>T | ClinVar dbSNP |
9 | g.101427511G>C | CA374265218 | ALDOB | c.511C>G (p.Leu171Val) n.68-873C>G | |
9 | g.101427511G>T | CA374265219 | ALDOB | c.511C>A (p.Leu171Met) n.68-873C>A | |
9 | g.101427512G>A | CA466462866 | ALDOB | c.510C>T (p.Ala170=) n.68-874C>T | ClinVar gnomAD v4 |
9 | g.101427512G>C | CA466462867 | ALDOB | c.510C>G (p.Ala170=) n.68-874C>G | |
9 | g.101427512G>T | CA466462869 | ALDOB | c.510C>A (p.Ala170=) n.68-874C>A | |
9 | g.101427513G>A | CA5161578 | ALDOB | c.509C>T (p.Ala170Val) n.68-875C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427513G>C | CA374265220 | ALDOB | c.509C>G (p.Ala170Gly) n.68-875C>G | gnomAD v4 |
9 | g.101427513G= | CA1868280068 | ALDOB | c.509C= (p.Ala170=) n.68-875C= | |
9 | g.101427513G>T | CA374265221 | ALDOB | c.509C>A (p.Ala170Asp) n.68-875C>A | |
9 | g.101427514C>A | CA374265222 | ALDOB | c.508G>T (p.Ala170Ser) n.68-876G>T | gnomAD v4 |
9 | g.101427514C= | CA1868280069 | ALDOB | c.508G= (p.Ala170=) n.68-876G= | |
9 | g.101427514C>G | CA374265223 | ALDOB | c.508G>C (p.Ala170Pro) n.68-876G>C | |
9 | g.101427514C>T | CA5161579 | ALDOB | c.508G>A (p.Ala170Thr) n.68-876G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427515G>A | CA5161581 | ALDOB | c.507C>T (p.Asn169=) n.68-877C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427515G>C | CA374265224 | ALDOB | c.507C>G (p.Asn169Lys) n.68-877C>G | |
9 | g.101427515G= | CA1868280070 | ALDOB | c.507C= (p.Asn169=) n.68-877C= | |
9 | g.101427515G>T | CA5161580 | ALDOB | c.507C>A (p.Asn169Lys) n.68-877C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427516T>A | CA374265225 | ALDOB | c.506A>T (p.Asn169Ile) n.68-878A>T | |
9 | g.101427516T>C | CA374265226 | ALDOB | c.506A>G (p.Asn169Ser) n.68-878A>G | gnomAD v4 |
9 | g.101427516T>G | CA374265227 | ALDOB | c.506A>C (p.Asn169Thr) n.68-878A>C | |
9 | g.101427517T>A | CA374265230 | ALDOB | c.505A>T (p.Asn169Tyr) n.68-879A>T | |
9 | g.101427517T>C | CA374265229 | ALDOB | c.505A>G (p.Asn169Asp) n.68-879A>G | ClinVar dbSNP gnomAD v4 |
9 | g.101427517T>G | CA374265228 | ALDOB | c.505A>C (p.Asn169His) n.68-879A>C | |
9 | g.101427517T= | CA1868280071 | ALDOB | c.505A= (p.Asn169=) n.68-879A= | |
9 | g.101427518G>A | CA466462872 | ALDOB | c.504C>T (p.Ala168=) n.68-880C>T | |
9 | g.101427518G>C | CA466462874 | ALDOB | c.504C>G (p.Ala168=) n.68-880C>G | |
9 | g.101427518G>T | CA466462873 | ALDOB | c.504C>A (p.Ala168=) n.68-880C>A | |
9 | g.101427519G>A | CA5161582 | ALDOB | c.503C>T (p.Ala168Val) n.68-881C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427519G>C | CA374265231 | ALDOB | c.503C>G (p.Ala168Gly) n.68-881C>G | |
9 | g.101427519G= | CA1868280072 | ALDOB | c.503C= (p.Ala168=) n.68-881C= | |
9 | g.101427519G>T | CA374265232 | ALDOB | c.503C>A (p.Ala168Asp) n.68-881C>A | COSMIC |
9 | g.101427520C>A | CA374265233 | ALDOB | c.502G>T (p.Ala168Ser) n.68-882G>T | COSMIC |
9 | g.101427520C= | CA1868280073 | ALDOB | c.502G= (p.Ala168=) n.68-882G= | |
9 | g.101427520C>G | CA374265234 | ALDOB | c.502G>C (p.Ala168Pro) n.68-882G>C | |
9 | g.101427520C>T | CA5161583 | ALDOB | c.502G>A (p.Ala168Thr) n.68-882G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101427521G>A | CA5161584 | ALDOB | c.501C>T (p.Asn167=) n.68-883C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101427521G>C | CA374265235 | ALDOB | c.501C>G (p.Asn167Lys) n.68-883C>G | |
9 | g.101427521G= | CA1868280074 | ALDOB | c.501C= (p.Asn167=) n.68-883C= | |
9 | g.101427521G>T | CA196957357 | ALDOB | c.501C>A (p.Asn167Lys) n.68-883C>A | dbSNP gnomAD v4 |
9 | g.101427522T>A | CA374265236 | ALDOB | c.500A>T (p.Asn167Ile) n.68-884A>T | |
9 | g.101427522T>C | CA374265237 | ALDOB | c.500A>G (p.Asn167Ser) n.68-884A>G | |
9 | g.101427522T>G | CA374265238 | ALDOB | c.500A>C (p.Asn167Thr) n.68-884A>C | |
9 | g.101427523T>A | CA374265240 | ALDOB | c.499A>T (p.Asn167Tyr) n.68-885A>T | |
9 | g.101427523T>C | CA374265241 | ALDOB | c.499A>G (p.Asn167Asp) n.68-885A>G | dbSNP |
9 | g.101427523T>G | CA374265239 | ALDOB | c.499A>C (p.Asn167His) n.68-885A>C | |
9 | g.101427523T= | CA1868280075 | ALDOB | c.499A= (p.Asn167=) n.68-885A= | |
9 | g.101427524T>A | CA374265242 | ALDOB | c.498A>T (p.Glu166Asp) n.68-886A>T | |
9 | g.101427524T>C | CA466462875 | ALDOB | c.498A>G (p.Glu166=) n.68-886A>G | |
9 | g.101427524T>G | CA374265243 | ALDOB | c.498A>C (p.Glu166Asp) n.68-886A>C | COSMIC |
9 | g.101427525T>A | CA374265244 | ALDOB | c.497A>T (p.Glu166Val) n.68-887A>T | gnomAD v4 |
9 | g.101427525T>C | CA374265245 | ALDOB | c.497A>G (p.Glu166Gly) n.68-887A>G | |
9 | g.101427525T>G | CA374265246 | ALDOB | c.497A>C (p.Glu166Ala) n.68-887A>C | |
9 | g.101427526C>A | CA374265248 | ALDOB | c.496G>T (p.Glu166Ter) n.68-888G>T | |
9 | g.101427526C= | CA1868280076 | ALDOB | c.496G= (p.Glu166=) n.68-888G= | |
9 | g.101427526C>G | CA374265247 | ALDOB | c.496G>C (p.Glu166Gln) n.68-888G>C | |
9 | g.101427526C>T | CA196957359 | ALDOB | c.496G>A (p.Glu166Lys) n.68-888G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427527C>A | CA374265249 | ALDOB | c.495G>T (p.Gln165His) n.68-889G>T | |
9 | g.101427527C>G | CA374265250 | ALDOB | c.495G>C (p.Gln165His) n.68-889G>C | |
9 | g.101427527C>T | CA466462876 | ALDOB | c.495G>A (p.Gln165=) n.68-889G>A | |
9 | g.101427528T>A | CA374265251 | ALDOB | c.494A>T (p.Gln165Leu) n.68-890A>T | |
9 | g.101427528T>C | CA374265252 | ALDOB | c.494A>G (p.Gln165Arg) n.68-890A>G | |
9 | g.101427528T>G | CA374265253 | ALDOB | c.494A>C (p.Gln165Pro) n.68-890A>C | |
9 | g.101427529G>A | CA374265256 | ALDOB | c.493C>T (p.Gln165Ter) n.68-891C>T | |
9 | g.101427529G>C | CA374265255 | ALDOB | c.493C>G (p.Gln165Glu) n.68-891C>G | dbSNP gnomAD v4 |
9 | g.101427529G= | CA1868280077 | ALDOB | c.493C= (p.Gln165=) n.68-891C= | |
9 | g.101427529G>T | CA374265254 | ALDOB | c.493C>A (p.Gln165Lys) n.68-891C>A | |
9 | g.101427530G>A | CA466462877 | ALDOB | c.492C>T (p.Ile164=) n.68-892C>T | gnomAD v4 |
9 | g.101427530G>C | CA374265257 | ALDOB | c.492C>G (p.Ile164Met) n.68-892C>G | |
9 | g.101427530G>T | CA466462878 | ALDOB | c.492C>A (p.Ile164=) n.68-892C>A | |
9 | g.101427531A>C | CA374265258 | ALDOB | c.491T>G (p.Ile164Ser) n.68-893T>G | |
9 | g.101427531A>G | CA374265259 | ALDOB | c.491T>C (p.Ile164Thr) n.68-893T>C | |
9 | g.101427531A>T | CA374265260 | ALDOB | c.491T>A (p.Ile164Asn) n.68-893T>A | |
9 | g.101427532T>A | CA374265261 | ALDOB | c.490A>T (p.Ile164Phe) n.68-894A>T | |
9 | g.101427532T>C | CA374265262 | ALDOB | c.490A>G (p.Ile164Val) n.68-894A>G | gnomAD v4 |
9 | g.101427532T>G | CA374265263 | ALDOB | c.490A>C (p.Ile164Leu) n.68-894A>C | |
9 | g.101427533A= | CA1868280078 | ALDOB | c.489T= (p.Ala163=) n.68-895T= | |
9 | g.101427533A>C | CA466462880 | ALDOB | c.489T>G (p.Ala163=) n.68-895T>G | |
9 | g.101427533A>G | CA466462881 | ALDOB | c.489T>C (p.Ala163=) n.68-895T>C | |
9 | g.101427533A>T | CA5161585 | ALDOB | c.489T>A (p.Ala163=) n.68-895T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427534G>A | CA5161586 | ALDOB | c.488C>T (p.Ala163Val) n.68-896C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427534G>C | CA374265264 | ALDOB | c.488C>G (p.Ala163Gly) n.68-896C>G | |
9 | g.101427534G= | CA1868280079 | ALDOB | c.488C= (p.Ala163=) n.68-896C= | |
9 | g.101427534G>T | CA374265265 | ALDOB | c.488C>A (p.Ala163Asp) n.68-896C>A | |
9 | g.101427535C>A | CA374265266 | ALDOB | c.487G>T (p.Ala163Ser) n.68-897G>T | gnomAD v4 |
9 | g.101427535C= | CA1868280080 | ALDOB | c.487G= (p.Ala163=) n.68-897G= | |
9 | g.101427535C>G | CA196957363 | ALDOB | c.487G>C (p.Ala163Pro) n.68-897G>C | dbSNP |
9 | g.101427535C>T | CA5161587 | ALDOB | c.487G>A (p.Ala163Thr) n.68-897G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427536G>A | CA5161589 | ALDOB | c.486C>T (p.Leu162=) n.68-898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427536G>C | CA5161588 | ALDOB | c.486C>G (p.Leu162=) n.68-898C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427536G= | CA1868280081 | ALDOB | c.486C= (p.Leu162=) n.68-898C= | |
9 | g.101427536G>T | CA466462883 | ALDOB | c.486C>A (p.Leu162=) n.68-898C>A | |
9 | g.101427537A= | CA1868280082 | ALDOB | c.485T= (p.Leu162=) n.68-899T= | |
9 | g.101427537A>C | CA374265267 | ALDOB | c.485T>G (p.Leu162Arg) n.68-899T>G | |
9 | g.101427537A>G | CA374265268 | ALDOB | c.485T>C (p.Leu162Pro) n.68-899T>C | ClinVar dbSNP gnomAD v4 |
9 | g.101427537A>T | CA374265269 | ALDOB | c.485T>A (p.Leu162His) n.68-899T>A | |
9 | g.101427538G>A | CA374265270 | ALDOB | c.484C>T (p.Leu162Phe) n.68-900C>T | gnomAD v4 |
9 | g.101427538G>C | CA374265271 | ALDOB | c.484C>G (p.Leu162Val) n.68-900C>G | |
9 | g.101427538G>T | CA374265272 | ALDOB | c.484C>A (p.Leu162Ile) n.68-900C>A | |
9 | g.101427539G>A | CA466462884 | ALDOB | c.483C>T (p.Ser161=) n.68-901C>T | |
9 | g.101427539G>C | CA374265274 | ALDOB | c.483C>G (p.Ser161Arg) n.68-901C>G | |
9 | g.101427539G= | CA1868280083 | ALDOB | c.483C= (p.Ser161=) n.68-901C= | |
9 | g.101427539G>T | CA374265273 | ALDOB | c.483C>A (p.Ser161Arg) n.68-901C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427540C>A | CA374265275 | ALDOB | c.482G>T (p.Ser161Ile) n.68-902G>T | |
9 | g.101427540C>G | CA374265276 | ALDOB | c.482G>C (p.Ser161Thr) n.68-902G>C | |
9 | g.101427540C>T | CA374265277 | ALDOB | c.482G>A (p.Ser161Asn) n.68-902G>A | |
9 | g.101427541T>A | CA374265278 | ALDOB | c.481A>T (p.Ser161Cys) n.68-903A>T | |
9 | g.101427541T>C | CA374265279 | ALDOB | c.481A>G (p.Ser161Gly) n.68-903A>G | |
9 | g.101427541T>G | CA374265280 | ALDOB | c.481A>C (p.Ser161Arg) n.68-903A>C | |
9 | g.101427542G>A | CA466462885 | ALDOB | c.480C>T (p.Ser160=) n.68-904C>T | ClinVar dbSNP |
9 | g.101427542G>C | CA466462886 | ALDOB | c.480C>G (p.Ser160=) n.68-904C>G | |
9 | g.101427542G>T | CA466462887 | ALDOB | c.480C>A (p.Ser160=) n.68-904C>A | |
9 | g.101427543G>A | CA374265282 | ALDOB | c.479C>T (p.Ser160Phe) n.68-905C>T | COSMIC |
9 | g.101427543G>C | CA374265281 | ALDOB | c.479C>G (p.Ser160Cys) n.68-905C>G | |
9 | g.101427543G= | CA1868280084 | ALDOB | c.479C= (p.Ser160=) n.68-905C= | |
9 | g.101427543G>T | CA196957369 | ALDOB | c.479C>A (p.Ser160Tyr) n.68-905C>A | dbSNP |
9 | g.101427544A>C | CA374265283 | ALDOB | c.478T>G (p.Ser160Ala) n.68-906T>G | |
9 | g.101427544A>G | CA374265284 | ALDOB | c.478T>C (p.Ser160Pro) n.68-906T>C | gnomAD v4 |
9 | g.101427544A>T | CA374265285 | ALDOB | c.478T>A (p.Ser160Thr) n.68-906T>A | gnomAD v4 |
9 | g.101427545T>A | CA466462888 | ALDOB | c.477A>T (p.Pro159=) n.68-907A>T | |
9 | g.101427545T>C | CA466462889 | ALDOB | c.477A>G (p.Pro159=) n.68-907A>G | ClinVar dbSNP gnomAD v2 |
9 | g.101427545T>G | CA466462890 | ALDOB | c.477A>C (p.Pro159=) n.68-907A>C | |
9 | g.101427545T= | CA1868280085 | ALDOB | c.477A= (p.Pro159=) n.68-907A= | |
9 | g.101427546G>A | CA374265286 | ALDOB | c.476C>T (p.Pro159Leu) n.68-908C>T | ClinVar dbSNP gnomAD v4 |
9 | g.101427546G>C | CA374265287 | ALDOB | c.476C>G (p.Pro159Arg) n.68-908C>G | |
9 | g.101427546G= | CA1868280086 | ALDOB | c.476C= (p.Pro159=) n.68-908C= | |
9 | g.101427546G>T | CA374265288 | ALDOB | c.476C>A (p.Pro159Gln) n.68-908C>A | |
9 | g.101427547G>A | CA374265291 | ALDOB | c.475C>T (p.Pro159Ser) n.68-909C>T | |
9 | g.101427547G>C | CA374265289 | ALDOB | c.475C>G (p.Pro159Ala) n.68-909C>G | gnomAD v4 |
9 | g.101427547G>T | CA374265290 | ALDOB | c.475C>A (p.Pro159Thr) n.68-909C>A | gnomAD v4 |
9 | g.101427548A= | CA1868280087 | ALDOB | c.474T= (p.Cys158=) n.68-910T= | |
9 | g.101427548A>C | CA374265292 | ALDOB | c.474T>G (p.Cys158Trp) n.68-910T>G | |
9 | g.101427548A>G | CA466462891 | ALDOB | c.474T>C (p.Cys158=) n.68-910T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427548A>T | CA374265293 | ALDOB | c.474T>A (p.Cys158Ter) n.68-910T>A | ClinVar dbSNP COSMIC |
9 | g.101427549C>A | CA374265294 | ALDOB | c.473G>T (p.Cys158Phe) n.68-911G>T | |
9 | g.101427549C>G | CA374265295 | ALDOB | c.473G>C (p.Cys158Ser) n.68-911G>C | |
9 | g.101427549C>T | CA374265296 | ALDOB | c.473G>A (p.Cys158Tyr) n.68-911G>A | ClinVar gnomAD v4 |
9 | g.101427550A= | CA1868280088 | ALDOB | c.472T= (p.Cys158=) n.68-912T= | |
9 | g.101427550A>C | CA374265297 | ALDOB | c.472T>G (p.Cys158Gly) n.68-912T>G | |
9 | g.101427550A>G | CA374265299 | ALDOB | c.472T>C (p.Cys158Arg) n.68-912T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427550A>T | CA374265298 | ALDOB | c.472T>A (p.Cys158Ser) n.68-912T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427551C>A | CA374265300 | ALDOB | c.471G>T (p.Gln157His) n.68-913G>T | |
9 | g.101427551C= | CA1868280089 | ALDOB | c.471G= (p.Gln157=) n.68-913G= | |
9 | g.101427551C>G | CA374265301 | ALDOB | c.471G>C (p.Gln157His) n.68-913G>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427551C>T | CA466462892 | ALDOB | c.471G>A (p.Gln157=) n.68-913G>A | |
9 | g.101427552T>A | CA374265302 | ALDOB | c.470A>T (p.Gln157Leu) n.68-914A>T | |
9 | g.101427552T>C | CA374265303 | ALDOB | c.470A>G (p.Gln157Arg) n.68-914A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427552T>G | CA374265304 | ALDOB | c.470A>C (p.Gln157Pro) n.68-914A>C | |
9 | g.101427552T= | CA1868280090 | ALDOB | c.470A= (p.Gln157=) n.68-914A= | |
9 | g.101427553G>A | CA374265305 | ALDOB | c.469C>T (p.Gln157Ter) n.68-915C>T | ClinVar dbSNP |
9 | g.101427553G>C | CA374265306 | ALDOB | c.469C>G (p.Gln157Glu) n.68-915C>G | |
9 | g.101427553G= | CA1868280091 | ALDOB | c.469C= (p.Gln157=) n.68-915C= | |
9 | g.101427553G>T | CA374265307 | ALDOB | c.469C>A (p.Gln157Lys) n.68-915C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427554G>A | CA5161590 | ALDOB | c.468C>T (p.Asp156=) n.68-916C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427554G>C | CA374265308 | ALDOB | c.468C>G (p.Asp156Glu) n.68-916C>G | gnomAD v4 |
9 | g.101427554G= | CA1868280092 | ALDOB | c.468C= (p.Asp156=) n.68-916C= | |
9 | g.101427554G>T | CA374265309 | ALDOB | c.468C>A (p.Asp156Glu) n.68-916C>A | dbSNP gnomAD v2 gnomAD v4 |
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 |