Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
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 |
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 |