Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.126615457_126615564del | CA2695211120 | LMX1B | c.214_321del (p.Asn72_Tyr107del) c.145_252del (p.Asn49_Tyr84del) | |
9 | g.126615463T>A | CA374910014 | LMX1B | c.220T>A (p.Ser74Thr) c.151T>A (p.Ser51Thr) | |
9 | g.126615463T>C | CA374910015 | LMX1B | c.220T>C (p.Ser74Pro) c.151T>C (p.Ser51Pro) | |
9 | g.126615463T>G | CA374910016 | LMX1B | c.220T>G (p.Ser74Ala) c.151T>G (p.Ser51Ala) | |
9 | g.126615464C>A | CA374910019 | LMX1B | c.221C>A (p.Ser74Ter) c.152C>A (p.Ser51Ter) | ClinVar gnomAD v4 |
9 | g.126615464C= | CA1879436175 | LMX1B | c.221C= (p.Ser74=) c.152C= (p.Ser51=) | |
9 | g.126615464C>G | CA374910018 | LMX1B | c.221C>G (p.Ser74Trp) c.152C>G (p.Ser51Trp) | |
9 | g.126615464C>T | CA374910017 | LMX1B | c.221C>T (p.Ser74Leu) c.152C>T (p.Ser51Leu) | ClinVar dbSNP gnomAD v4 |
9 | g.126615465G>A | CA467136322 | LMX1B | c.222G>A (p.Ser74=) c.153G>A (p.Ser51=) | gnomAD v4 |
9 | g.126615465G>C | CA467136323 | LMX1B | c.222G>C (p.Ser74=) c.153G>C (p.Ser51=) | |
9 | g.126615465G>T | CA467136324 | LMX1B | c.222G>T (p.Ser74=) c.153G>T (p.Ser51=) | |
9 | g.126615466T>A | CA374910020 | LMX1B | c.223T>A (p.Ser75Thr) c.154T>A (p.Ser52Thr) | |
9 | g.126615466T>C | CA374910022 | LMX1B | c.223T>C (p.Ser75Pro) c.154T>C (p.Ser52Pro) | |
9 | g.126615466T>G | CA374910021 | LMX1B | c.223T>G (p.Ser75Ala) c.154T>G (p.Ser52Ala) | |
9 | g.126615466_126615474del | CA2695211121 | LMX1B | c.223_231del (p.Ser75_His77del) c.154_162del (p.Ser52_His54del) | |
9 | g.126615467C>A | CA374910023 | LMX1B | c.224C>A (p.Ser75Tyr) c.155C>A (p.Ser52Tyr) | |
9 | g.126615467C= | CA1879436176 | LMX1B | c.224C= (p.Ser75=) c.155C= (p.Ser52=) | |
9 | g.126615467C>G | CA374910024 | LMX1B | c.224C>G (p.Ser75Cys) c.155C>G (p.Ser52Cys) | ClinVar dbSNP |
9 | g.126615467C>T | CA199787586 | LMX1B | c.224C>T (p.Ser75Phe) c.155C>T (p.Ser52Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615468dup | CA2695211122 | LMX1B | c.225dup (p.Trp76LeufsTer?) c.156dup (p.Trp53LeufsTer?) | |
9 | g.126615468C>A | CA467136326 | LMX1B | c.225C>A (p.Ser75=) c.156C>A (p.Ser52=) | gnomAD v4 |
9 | g.126615468C= | CA1879436177 | LMX1B | c.225C= (p.Ser75=) c.156C= (p.Ser52=) | |
9 | g.126615468C>G | CA467136327 | LMX1B | c.225C>G (p.Ser75=) c.156C>G (p.Ser52=) | |
9 | g.126615468C>T | CA467136328 | LMX1B | c.225C>T (p.Ser75=) c.156C>T (p.Ser52=) | dbSNP |
9 | g.126615469T>A | CA374910025 | LMX1B | c.226T>A (p.Trp76Arg) c.157T>A (p.Trp53Arg) | |
9 | g.126615469T>C | CA374910026 | LMX1B | c.226T>C (p.Trp76Arg) c.157T>C (p.Trp53Arg) | |
9 | g.126615469T>G | CA16605467 | LMX1B | c.226T>G (p.Trp76Gly) c.157T>G (p.Trp53Gly) | ClinVar dbSNP |
9 | g.126615469T= | CA1879436178 | LMX1B | c.226T= (p.Trp76=) c.157T= (p.Trp53=) | |
9 | g.126615473_126615474insGAGGATGGCA | CA2695211123 | LMX1B | c.230_231insGAGGATGGCA (p.His77GlnfsTer?) c.161_162insGAGGATGGCA (p.His54GlnfsTer?) | |
9 | g.126615470G>A | CA10588464 | LMX1B | c.227G>A (p.Trp76Ter) c.158G>A (p.Trp53Ter) | ClinVar dbSNP |
9 | g.126615470G>C | CA374910027 | LMX1B | c.227G>C (p.Trp76Ser) c.158G>C (p.Trp53Ser) | |
9 | g.126615470G= | CA1879436179 | LMX1B | c.227G= (p.Trp76=) c.158G= (p.Trp53=) | |
9 | g.126615470G>T | CA374910028 | LMX1B | c.227G>T (p.Trp76Leu) c.158G>T (p.Trp53Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.126615471G>A | CA374910029 | LMX1B | c.228G>A (p.Trp76Ter) c.159G>A (p.Trp53Ter) | |
9 | g.126615471G>C | CA374910030 | LMX1B | c.228G>C (p.Trp76Cys) c.159G>C (p.Trp53Cys) | |
9 | g.126615471G>T | CA374910031 | LMX1B | c.228G>T (p.Trp76Cys) c.159G>T (p.Trp53Cys) | gnomAD v4 |
9 | g.126615472C>A | CA374910034 | LMX1B | c.229C>A (p.His77Asn) c.160C>A (p.His54Asn) | |
9 | g.126615472C>G | CA374910032 | LMX1B | c.229C>G (p.His77Asp) c.160C>G (p.His54Asp) | |
9 | g.126615472C>T | CA374910033 | LMX1B | c.229C>T (p.His77Tyr) c.160C>T (p.His54Tyr) | |
9 | g.126615473A>C | CA374910035 | LMX1B | c.230A>C (p.His77Pro) c.161A>C (p.His54Pro) | |
9 | g.126615473A>G | CA374910036 | LMX1B | c.230A>G (p.His77Arg) c.161A>G (p.His54Arg) | |
9 | g.126615473A>T | CA374910037 | LMX1B | c.230A>T (p.His77Leu) c.161A>T (p.His54Leu) | |
9 | g.126615474C>A | CA374910038 | LMX1B | c.231C>A (p.His77Gln) c.162C>A (p.His54Gln) | |
9 | g.126615474C= | CA1879436180 | LMX1B | c.231C= (p.His77=) c.162C= (p.His54=) | |
9 | g.126615474C>G | CA374910039 | LMX1B | c.231C>G (p.His77Gln) c.162C>G (p.His54Gln) | gnomAD v4 |
9 | g.126615474C>T | CA467136333 | LMX1B | c.231C>T (p.His77=) c.162C>T (p.His54=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.126615475G>A | CA374910040 | LMX1B | c.232G>A (p.Glu78Lys) c.163G>A (p.Glu55Lys) | ClinVar dbSNP gnomAD v4 |
9 | g.126615475G>C | CA374910041 | LMX1B | c.232G>C (p.Glu78Gln) c.163G>C (p.Glu55Gln) | dbSNP |
9 | g.126615475G= | CA1879436181 | LMX1B | c.232G= (p.Glu78=) c.163G= (p.Glu55=) | |
9 | g.126615475G>T | CA374910042 | LMX1B | c.232G>T (p.Glu78Ter) c.163G>T (p.Glu55Ter) | ClinVar |
9 | g.126615476A>C | CA374910043 | LMX1B | c.233A>C (p.Glu78Ala) c.164A>C (p.Glu55Ala) | |
9 | g.126615476A>G | CA374910044 | LMX1B | c.233A>G (p.Glu78Gly) c.164A>G (p.Glu55Gly) | COSMIC COSMIC COSMIC |
9 | g.126615476A>T | CA374910045 | LMX1B | c.233A>T (p.Glu78Val) c.164A>T (p.Glu55Val) | |
9 | g.126615477G>A | CA467136334 | LMX1B | c.234G>A (p.Glu78=) c.165G>A (p.Glu55=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615477G>C | CA374910047 | LMX1B | c.234G>C (p.Glu78Asp) c.165G>C (p.Glu55Asp) | |
9 | g.126615477G= | CA1879436182 | LMX1B | c.234G= (p.Glu78=) c.165G= (p.Glu55=) | |
9 | g.126615477G>T | CA374910046 | LMX1B | c.234G>T (p.Glu78Asp) c.165G>T (p.Glu55Asp) | |
9 | g.126615477_126615478delinsAA | CA645549466 | LMX1B | c.234_235delinsAA (p.Glu79Lys) c.165_166delinsAA (p.Glu56Lys) | COSMIC COSMIC COSMIC |
9 | g.126615478G>A | CA5242253 | LMX1B | c.235G>A (p.Glu79Lys) c.166G>A (p.Glu56Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.126615478G>C | CA374910048 | LMX1B | c.235G>C (p.Glu79Gln) c.166G>C (p.Glu56Gln) | |
9 | g.126615478G= | CA1879436183 | LMX1B | c.235G= (p.Glu79=) c.166G= (p.Glu56=) | |
9 | g.126615478G>T | CA374910049 | LMX1B | c.235G>T (p.Glu79Ter) c.166G>T (p.Glu56Ter) | ClinVar dbSNP |
9 | g.126615479A>C | CA374910050 | LMX1B | c.236A>C (p.Glu79Ala) c.167A>C (p.Glu56Ala) | |
9 | g.126615479A>G | CA374910051 | LMX1B | c.236A>G (p.Glu79Gly) c.167A>G (p.Glu56Gly) | |
9 | g.126615479A>T | CA374910052 | LMX1B | c.236A>T (p.Glu79Val) c.167A>T (p.Glu56Val) | gnomAD v4 |
9 | g.126615480G>A | CA467136337 | LMX1B | c.237G>A (p.Glu79=) c.168G>A (p.Glu56=) | |
9 | g.126615480G>C | CA374910053 | LMX1B | c.237G>C (p.Glu79Asp) c.168G>C (p.Glu56Asp) | |
9 | g.126615480G>T | CA374910054 | LMX1B | c.237G>T (p.Glu79Asp) c.168G>T (p.Glu56Asp) | ClinVar dbSNP gnomAD v4 |
9 | g.126615481T>A | CA374910055 | LMX1B | c.238T>A (p.Cys80Ser) c.169T>A (p.Cys57Ser) | |
9 | g.126615481T>C | CA374910056 | LMX1B | c.238T>C (p.Cys80Arg) c.169T>C (p.Cys57Arg) | ClinVar dbSNP |
9 | g.126615481T>G | CA374910057 | LMX1B | c.238T>G (p.Cys80Gly) c.169T>G (p.Cys57Gly) | |
9 | g.126615482G>A | CA374910058 | LMX1B | c.239G>A (p.Cys80Tyr) c.170G>A (p.Cys57Tyr) | |
9 | g.126615482G>C | CA374910059 | LMX1B | c.239G>C (p.Cys80Ser) c.170G>C (p.Cys57Ser) | |
9 | g.126615482G>T | CA374910060 | LMX1B | c.239G>T (p.Cys80Phe) c.170G>T (p.Cys57Phe) | |
9 | g.126615482delinsAA | CA2695211124 | LMX1B | c.239delinsAA (p.Cys80Ter) c.170delinsAA (p.Cys57Ter) | |
9 | g.126615483T>A | CA374910061 | LMX1B | c.240T>A (p.Cys80Ter) c.171T>A (p.Cys57Ter) | |
9 | g.126615483T>C | CA467136340 | LMX1B | c.240T>C (p.Cys80=) c.171T>C (p.Cys57=) | |
9 | g.126615483T>G | CA374910062 | LMX1B | c.240T>G (p.Cys80Trp) c.171T>G (p.Cys57Trp) | |
9 | g.126615484T>A | CA374910063 | LMX1B | c.241T>A (p.Leu81Met) c.172T>A (p.Leu58Met) | |
9 | g.126615484T>C | CA467136343 | LMX1B | c.241T>C (p.Leu81=) c.172T>C (p.Leu58=) | |
9 | g.126615484T>G | CA374910064 | LMX1B | c.241T>G (p.Leu81Val) c.172T>G (p.Leu58Val) | |
9 | g.126615485T>A | CA374910065 | LMX1B | c.242T>A (p.Leu81Ter) c.173T>A (p.Leu58Ter) | |
9 | g.126615485T>C | CA374910066 | LMX1B | c.242T>C (p.Leu81Ser) c.173T>C (p.Leu58Ser) | dbSNP COSMIC COSMIC COSMIC |
9 | g.126615485T>G | CA374910067 | LMX1B | c.242T>G (p.Leu81Trp) c.173T>G (p.Leu58Trp) | ClinVar dbSNP |
9 | g.126615485T= | CA1879436184 | LMX1B | c.242T= (p.Leu81=) c.173T= (p.Leu58=) | |
9 | g.126615486G>A | CA467136344 | LMX1B | c.243G>A (p.Leu81=) c.174G>A (p.Leu58=) | |
9 | g.126615486G>C | CA374910068 | LMX1B | c.243G>C (p.Leu81Phe) c.174G>C (p.Leu58Phe) | |
9 | g.126615486G>T | CA374910069 | LMX1B | c.243G>T (p.Leu81Phe) c.174G>T (p.Leu58Phe) | |
9 | g.126615487C>A | CA374910070 | LMX1B | c.244C>A (p.Gln82Lys) c.175C>A (p.Gln59Lys) | |
9 | g.126615487C= | CA1879436185 | LMX1B | c.244C= (p.Gln82=) c.175C= (p.Gln59=) | |
9 | g.126615487C>G | CA374910071 | LMX1B | c.244C>G (p.Gln82Glu) c.175C>G (p.Gln59Glu) | |
9 | g.126615487C>T | CA254051 | LMX1B | c.244C>T (p.Gln82Ter) c.175C>T (p.Gln59Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.126615488A>C | CA374910072 | LMX1B | c.245A>C (p.Gln82Pro) c.176A>C (p.Gln59Pro) | |
9 | g.126615488A>G | CA374910073 | LMX1B | c.245A>G (p.Gln82Arg) c.176A>G (p.Gln59Arg) | |
9 | g.126615488A>T | CA374910074 | LMX1B | c.245A>T (p.Gln82Leu) c.176A>T (p.Gln59Leu) | |
9 | g.126615489G>A | CA467136346 | LMX1B | c.246G>A (p.Gln82=) c.177G>A (p.Gln59=) | gnomAD v4 |
9 | g.126615489G>C | CA374910076 | LMX1B | c.246G>C (p.Gln82His) c.177G>C (p.Gln59His) | |
9 | g.126615489G>T | CA374910075 | LMX1B | c.246G>T (p.Gln82His) c.177G>T (p.Gln59His) | |
9 | g.126615490T>A | CA374910077 | LMX1B | c.247T>A (p.Cys83Ser) c.178T>A (p.Cys60Ser) | |
9 | g.126615490T>C | CA374910079 | LMX1B | c.247T>C (p.Cys83Arg) c.178T>C (p.Cys60Arg) | ClinVar |
9 | g.126615490T>G | CA374910078 | LMX1B | c.247T>G (p.Cys83Gly) c.178T>G (p.Cys60Gly) | |
9 | g.126615491G>A | CA374910080 | LMX1B | c.248G>A (p.Cys83Tyr) c.179G>A (p.Cys60Tyr) | |
9 | g.126615491G>C | CA374910082 | LMX1B | c.248G>C (p.Cys83Ser) c.179G>C (p.Cys60Ser) | |
9 | g.126615491G>T | CA374910081 | LMX1B | c.248G>T (p.Cys83Phe) c.179G>T (p.Cys60Phe) | |
9 | g.126615492C>A | CA374910083 | LMX1B | c.249C>A (p.Cys83Ter) c.180C>A (p.Cys60Ter) | |
9 | g.126615492C>G | CA374910084 | LMX1B | c.249C>G (p.Cys83Trp) c.180C>G (p.Cys60Trp) | ClinVar |
9 | g.126615492C>T | CA467136350 | LMX1B | c.249C>T (p.Cys83=) c.180C>T (p.Cys60=) | |
9 | g.126615493G>A | CA374910085 | LMX1B | c.250G>A (p.Ala84Thr) c.181G>A (p.Ala61Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.126615493G>C | CA374910086 | LMX1B | c.250G>C (p.Ala84Pro) c.181G>C (p.Ala61Pro) | |
9 | g.126615493G= | CA1879436186 | LMX1B | c.250G= (p.Ala84=) c.181G= (p.Ala61=) | |
9 | g.126615493G>T | CA374910087 | LMX1B | c.250G>T (p.Ala84Ser) c.181G>T (p.Ala61Ser) | |
9 | g.126615494C>A | CA374910088 | LMX1B | c.251C>A (p.Ala84Glu) c.182C>A (p.Ala61Glu) | dbSNP |
9 | g.126615494C= | CA1879436187 | LMX1B | c.251C= (p.Ala84=) c.182C= (p.Ala61=) | |
9 | g.126615494C>G | CA374910089 | LMX1B | c.251C>G (p.Ala84Gly) c.182C>G (p.Ala61Gly) | gnomAD v4 |
9 | g.126615494C>T | CA5242254 | LMX1B | c.251C>T (p.Ala84Val) c.182C>T (p.Ala61Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.126615495G>A | CA467136352 | LMX1B | c.252G>A (p.Ala84=) c.183G>A (p.Ala61=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615495G>C | CA199787594 | LMX1B | c.252G>C (p.Ala84=) c.183G>C (p.Ala61=) | dbSNP |
9 | g.126615495G= | CA1879436188 | LMX1B | c.252G= (p.Ala84=) c.183G= (p.Ala61=) | |
9 | g.126615495G>T | CA467136351 | LMX1B | c.252G>T (p.Ala84=) c.183G>T (p.Ala61=) | |
9 | g.126615496G>A | CA374910090 | LMX1B | c.253G>A (p.Ala85Thr) c.184G>A (p.Ala62Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615496G>C | CA374910091 | LMX1B | c.253G>C (p.Ala85Pro) c.184G>C (p.Ala62Pro) | |
9 | g.126615496G= | CA1879436189 | LMX1B | c.253G= (p.Ala85=) c.184G= (p.Ala62=) | |
9 | g.126615496G>T | CA374910092 | LMX1B | c.253G>T (p.Ala85Ser) c.184G>T (p.Ala62Ser) | ClinVar |
9 | g.126615497C>A | CA374910093 | LMX1B | c.254C>A (p.Ala85Glu) c.185C>A (p.Ala62Glu) | |
9 | g.126615497C= | CA1879436190 | LMX1B | c.254C= (p.Ala85=) c.185C= (p.Ala62=) | |
9 | g.126615497C>G | CA374910094 | LMX1B | c.254C>G (p.Ala85Gly) c.185C>G (p.Ala62Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615497C>T | CA5242255 | LMX1B | c.254C>T (p.Ala85Val) c.185C>T (p.Ala62Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.126615498G>A | CA5242256 | LMX1B | c.255G>A (p.Ala85=) c.186G>A (p.Ala62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.126615498G>C | CA199787598 | LMX1B | c.255G>C (p.Ala85=) c.186G>C (p.Ala62=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.126615498G= | CA1879436191 | LMX1B | c.255G= (p.Ala85=) c.186G= (p.Ala62=) | |
9 | g.126615498G>T | CA467136353 | LMX1B | c.255G>T (p.Ala85=) c.186G>T (p.Ala62=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615499T>A | CA374910095 | LMX1B | c.256T>A (p.Cys86Ser) c.187T>A (p.Cys63Ser) | ClinVar |
9 | g.126615499T>C | CA374910096 | LMX1B | c.256T>C (p.Cys86Arg) c.187T>C (p.Cys63Arg) | COSMIC COSMIC COSMIC |
9 | g.126615499T>G | CA374910097 | LMX1B | c.256T>G (p.Cys86Gly) c.187T>G (p.Cys63Gly) | |
9 | g.126615499dup | CA2695211125 | LMX1B | c.256dup (p.Cys86LeufsTer?) c.187dup (p.Cys63LeufsTer?) | |
9 | g.126615502_126615547del | CA2580079539 | LMX1B | c.259_304del (p.Gln87ThrfsTer27) c.190_235del (p.Gln64ThrfsTer27) | ClinVar |
9 | g.126615500G>A | CA374910098 | LMX1B | c.257G>A (p.Cys86Tyr) c.188G>A (p.Cys63Tyr) | ClinVar dbSNP |
9 | g.126615500G>C | CA374910099 | LMX1B | c.257G>C (p.Cys86Ser) c.188G>C (p.Cys63Ser) | ClinVar |
9 | g.126615500G= | CA1879436192 | LMX1B | c.257G= (p.Cys86=) c.188G= (p.Cys63=) | |
9 | g.126615500G>T | CA374910100 | LMX1B | c.257G>T (p.Cys86Phe) c.188G>T (p.Cys63Phe) | |
9 | g.126615501T>A | CA374910101 | LMX1B | c.258T>A (p.Cys86Ter) c.189T>A (p.Cys63Ter) | ClinVar |
9 | g.126615501T>C | CA467136355 | LMX1B | c.258T>C (p.Cys86=) c.189T>C (p.Cys63=) | dbSNP gnomAD v4 |
9 | g.126615501T>G | CA374910102 | LMX1B | c.258T>G (p.Cys86Trp) c.189T>G (p.Cys63Trp) | |
9 | g.126615501T= | CA1879436193 | LMX1B | c.258T= (p.Cys86=) c.189T= (p.Cys63=) | |
9 | g.126615502C>A | CA374910104 | LMX1B | c.259C>A (p.Gln87Lys) c.190C>A (p.Gln64Lys) | |
9 | g.126615502C>G | CA374910105 | LMX1B | c.259C>G (p.Gln87Glu) c.190C>G (p.Gln64Glu) | |
9 | g.126615502C>T | CA374910103 | LMX1B | c.259C>T (p.Gln87Ter) c.190C>T (p.Gln64Ter) | ClinVar COSMIC COSMIC COSMIC |
9 | g.126615503A>C | CA374910106 | LMX1B | c.260A>C (p.Gln87Pro) c.191A>C (p.Gln64Pro) | gnomAD v4 |
9 | g.126615503A>G | CA374910107 | LMX1B | c.260A>G (p.Gln87Arg) c.191A>G (p.Gln64Arg) | gnomAD v4 |
9 | g.126615503A>T | CA374910108 | LMX1B | c.260A>T (p.Gln87Leu) c.191A>T (p.Gln64Leu) | |
9 | g.126615504G>A | CA467136357 | LMX1B | c.261G>A (p.Gln87=) c.192G>A (p.Gln64=) | gnomAD v4 |
9 | g.126615504G>C | CA374910109 | LMX1B | c.261G>C (p.Gln87His) c.192G>C (p.Gln64His) | |
9 | g.126615504G= | CA1879436194 | LMX1B | c.261G= (p.Gln87=) c.192G= (p.Gln64=) | |
9 | g.126615504G>T | CA374910110 | LMX1B | c.261G>T (p.Gln87His) c.192G>T (p.Gln64His) | dbSNP gnomAD v2 |
9 | g.126615505C>A | CA374910111 | LMX1B | c.262C>A (p.Gln88Lys) c.193C>A (p.Gln65Lys) | |
9 | g.126615505C>G | CA374910112 | LMX1B | c.262C>G (p.Gln88Glu) c.193C>G (p.Gln65Glu) | |
9 | g.126615505C>T | CA374910113 | LMX1B | c.262C>T (p.Gln88Ter) c.193C>T (p.Gln65Ter) | ClinVar |
9 | g.126615506A>C | CA374910114 | LMX1B | c.263A>C (p.Gln88Pro) c.194A>C (p.Gln65Pro) | |
9 | g.126615506A>G | CA374910115 | LMX1B | c.263A>G (p.Gln88Arg) c.194A>G (p.Gln65Arg) | |
9 | g.126615506A>T | CA374910116 | LMX1B | c.263A>T (p.Gln88Leu) c.194A>T (p.Gln65Leu) | |
9 | g.126615507A>C | CA374910117 | LMX1B | c.264A>C (p.Gln88His) c.195A>C (p.Gln65His) | |
9 | g.126615507A>G | CA467136359 | LMX1B | c.264A>G (p.Gln88=) c.195A>G (p.Gln65=) | |
9 | g.126615507A>T | CA374910118 | LMX1B | c.264A>T (p.Gln88His) c.195A>T (p.Gln65His) | |
9 | g.126615508G>A | CA374910121 | LMX1B | c.265G>A (p.Ala89Thr) c.196G>A (p.Ala66Thr) | |
9 | g.126615508G>C | CA374910120 | LMX1B | c.265G>C (p.Ala89Pro) c.196G>C (p.Ala66Pro) | |
9 | g.126615508G>T | CA374910119 | LMX1B | c.265G>T (p.Ala89Ser) c.196G>T (p.Ala66Ser) | |
9 | g.126615509C>A | CA374910122 | LMX1B | c.266C>A (p.Ala89Asp) c.197C>A (p.Ala66Asp) | |
9 | g.126615509C>G | CA374910123 | LMX1B | c.266C>G (p.Ala89Gly) c.197C>G (p.Ala66Gly) | gnomAD v4 |
9 | g.126615509C>T | CA374910124 | LMX1B | c.266C>T (p.Ala89Val) c.197C>T (p.Ala66Val) | ClinVar gnomAD v4 |
9 | g.126615510C>A | CA467136363 | LMX1B | c.267C>A (p.Ala89=) c.198C>A (p.Ala66=) | ClinVar |
9 | g.126615510C>G | CA467136364 | LMX1B | c.267C>G (p.Ala89=) c.198C>G (p.Ala66=) | |
9 | g.126615510C>T | CA467136365 | LMX1B | c.267C>T (p.Ala89=) c.198C>T (p.Ala66=) | |
9 | g.126615512_126615519del | CA2695211126 | LMX1B | c.269_276del (p.Leu90GlnfsTer?) c.200_207del (p.Leu67GlnfsTer?) | |
9 | g.126615511C>A | CA374910125 | LMX1B | c.268C>A (p.Leu90Ile) c.199C>A (p.Leu67Ile) | |
9 | g.126615511C>G | CA374910126 | LMX1B | c.268C>G (p.Leu90Val) c.199C>G (p.Leu67Val) | |
9 | g.126615511C>T | CA374910127 | LMX1B | c.268C>T (p.Leu90Phe) c.199C>T (p.Leu67Phe) | |
9 | g.126615512_126615513dup | CA2695211127 | LMX1B | c.269_270dup (p.Thr91SerfsTer?) c.200_201dup (p.Thr68SerfsTer?) | |
9 | g.126615512T>A | CA374910128 | LMX1B | c.269T>A (p.Leu90His) c.200T>A (p.Leu67His) | |
9 | g.126615512T>C | CA374910129 | LMX1B | c.269T>C (p.Leu90Pro) c.200T>C (p.Leu67Pro) | |
9 | g.126615512T>G | CA374910130 | LMX1B | c.269T>G (p.Leu90Arg) c.200T>G (p.Leu67Arg) | |
9 | g.126615513C>A | CA467136367 | LMX1B | c.270C>A (p.Leu90=) c.201C>A (p.Leu67=) | |
9 | g.126615513C>G | CA467136368 | LMX1B | c.270C>G (p.Leu90=) c.201C>G (p.Leu67=) | |
9 | g.126615513C>T | CA467136369 | LMX1B | c.270C>T (p.Leu90=) c.201C>T (p.Leu67=) | gnomAD v4 |
9 | g.126615514_126615515del | CA2739265030 | LMX1B | c.271_272del (p.Thr91HisfsTer?) c.202_203del (p.Thr68HisfsTer?) | ClinVar |
9 | g.126615514A>C | CA374910131 | LMX1B | c.271A>C (p.Thr91Pro) c.202A>C (p.Thr68Pro) | |
9 | g.126615514A>G | CA374910132 | LMX1B | c.271A>G (p.Thr91Ala) c.202A>G (p.Thr68Ala) | |
9 | g.126615514A>T | CA374910133 | LMX1B | c.271A>T (p.Thr91Ser) c.202A>T (p.Thr68Ser) | |
9 | g.126615515C>A | CA374910136 | LMX1B | c.272C>A (p.Thr91Asn) c.203C>A (p.Thr68Asn) | |
9 | g.126615515C>G | CA374910135 | LMX1B | c.272C>G (p.Thr91Ser) c.203C>G (p.Thr68Ser) | |
9 | g.126615515C>T | CA374910134 | LMX1B | c.272C>T (p.Thr91Ile) c.203C>T (p.Thr68Ile) | |
9 | g.126615516C>A | CA467136370 | LMX1B | c.273C>A (p.Thr91=) c.204C>A (p.Thr68=) | |
9 | g.126615516C= | CA1879436195 | LMX1B | c.273C= (p.Thr91=) c.204C= (p.Thr68=) | |
9 | g.126615516C>G | CA467136372 | LMX1B | c.273C>G (p.Thr91=) c.204C>G (p.Thr68=) | |
9 | g.126615516C>T | CA467136374 | LMX1B | c.273C>T (p.Thr91=) c.204C>T (p.Thr68=) | ClinVar dbSNP gnomAD v4 |
9 | g.126615517A>C | CA374910137 | LMX1B | c.274A>C (p.Thr92Pro) c.205A>C (p.Thr69Pro) | |
9 | g.126615517A>G | CA374910138 | LMX1B | c.274A>G (p.Thr92Ala) c.205A>G (p.Thr69Ala) | |
9 | g.126615517A>T | CA374910139 | LMX1B | c.274A>T (p.Thr92Ser) c.205A>T (p.Thr69Ser) | |
9 | g.126615518C>A | CA374910140 | LMX1B | c.275C>A (p.Thr92Asn) c.206C>A (p.Thr69Asn) | |
9 | g.126615518C>G | CA374910141 | LMX1B | c.275C>G (p.Thr92Ser) c.206C>G (p.Thr69Ser) | |
9 | g.126615518C>T | CA374910142 | LMX1B | c.275C>T (p.Thr92Ile) c.206C>T (p.Thr69Ile) | gnomAD v4 |
9 | g.126615519C>A | CA467136378 | LMX1B | c.276C>A (p.Thr92=) c.207C>A (p.Thr69=) | |
9 | g.126615519C= | CA1879436196 | LMX1B | c.276C= (p.Thr92=) c.207C= (p.Thr69=) | |
9 | g.126615519C>G | CA467136377 | LMX1B | c.276C>G (p.Thr92=) c.207C>G (p.Thr69=) | |
9 | g.126615519C>T | CA467136376 | LMX1B | c.276C>T (p.Thr92=) c.207C>T (p.Thr69=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615520A>C | CA374910145 | LMX1B | c.277A>C (p.Ser93Arg) c.208A>C (p.Ser70Arg) | |
9 | g.126615520A>G | CA374910143 | LMX1B | c.277A>G (p.Ser93Gly) c.208A>G (p.Ser70Gly) | |
9 | g.126615520A>T | CA374910144 | LMX1B | c.277A>T (p.Ser93Cys) c.208A>T (p.Ser70Cys) | |
9 | g.126615521G>A | CA374910146 | LMX1B | c.278G>A (p.Ser93Asn) c.209G>A (p.Ser70Asn) | COSMIC COSMIC |
9 | g.126615521G>C | CA374910147 | LMX1B | c.278G>C (p.Ser93Thr) c.209G>C (p.Ser70Thr) | |
9 | g.126615521G>T | CA374910148 | LMX1B | c.278G>T (p.Ser93Ile) c.209G>T (p.Ser70Ile) | |
9 | g.126615522C>A | CA374910149 | LMX1B | c.279C>A (p.Ser93Arg) c.210C>A (p.Ser70Arg) | |
9 | g.126615522C>G | CA374910150 | LMX1B | c.279C>G (p.Ser93Arg) c.210C>G (p.Ser70Arg) | |
9 | g.126615522C>T | CA467136382 | LMX1B | c.279C>T (p.Ser93=) c.210C>T (p.Ser70=) | |
9 | g.126615523T>A | CA374910153 | LMX1B | c.280T>A (p.Cys94Ser) c.211T>A (p.Cys71Ser) | |
9 | g.126615523T>C | CA374910151 | LMX1B | c.280T>C (p.Cys94Arg) c.211T>C (p.Cys71Arg) | |
9 | g.126615523T>G | CA374910152 | LMX1B | c.280T>G (p.Cys94Gly) c.211T>G (p.Cys71Gly) | |
9 | g.126615524G>A | CA374910154 | LMX1B | c.281G>A (p.Cys94Tyr) c.212G>A (p.Cys71Tyr) | |
9 | g.126615524G>C | CA374910155 | LMX1B | c.281G>C (p.Cys94Ser) c.212G>C (p.Cys71Ser) | |
9 | g.126615524G>T | CA374910156 | LMX1B | c.281G>T (p.Cys94Phe) c.212G>T (p.Cys71Phe) | |
9 | g.126615525C>A | CA374910157 | LMX1B | c.282C>A (p.Cys94Ter) c.213C>A (p.Cys71Ter) | |
9 | g.126615525C>G | CA374910158 | LMX1B | c.282C>G (p.Cys94Trp) c.213C>G (p.Cys71Trp) | gnomAD v4 |
9 | g.126615525C>T | CA467136383 | LMX1B | c.282C>T (p.Cys94=) c.213C>T (p.Cys71=) | gnomAD v4 |
9 | g.126615526T>A | CA374910159 | LMX1B | c.283T>A (p.Tyr95Asn) c.214T>A (p.Tyr72Asn) | |
9 | g.126615526T>C | CA374910160 | LMX1B | c.283T>C (p.Tyr95His) c.214T>C (p.Tyr72His) | |
9 | g.126615526T>G | CA374910161 | LMX1B | c.283T>G (p.Tyr95Asp) c.214T>G (p.Tyr72Asp) | |
9 | g.126615527A>C | CA374910162 | LMX1B | c.284A>C (p.Tyr95Ser) c.215A>C (p.Tyr72Ser) | |
9 | g.126615527A>G | CA374910163 | LMX1B | c.284A>G (p.Tyr95Cys) c.215A>G (p.Tyr72Cys) | |
9 | g.126615527A>T | CA374910164 | LMX1B | c.284A>T (p.Tyr95Phe) c.215A>T (p.Tyr72Phe) | |
9 | g.126615527_126615532delinsACTTCC | CA1879436197 | LMX1B | c.284_289delinsACTTCC (p.Tyr95=) c.215_220delinsACTTCC (p.Tyr72=) | |
9 | g.126615528C>A | CA374910165 | LMX1B | c.285C>A (p.Tyr95Ter) c.216C>A (p.Tyr72Ter) | |
9 | g.126615528C>G | CA374910166 | LMX1B | c.285C>G (p.Tyr95Ter) c.216C>G (p.Tyr72Ter) | ClinVar dbSNP |
9 | g.126615528C>T | CA467136386 | LMX1B | c.285C>T (p.Tyr95=) c.216C>T (p.Tyr72=) | gnomAD v4 |
9 | g.126615528_126615532del | CA16603321 | LMX1B | c.285_289del (p.Tyr95Ter) c.216_220del (p.Tyr72Ter) | ClinVar dbSNP |
9 | g.126615529T>A | CA374910167 | LMX1B | c.286T>A (p.Phe96Ile) c.217T>A (p.Phe73Ile) | |
9 | g.126615529T>C | CA374910169 | LMX1B | c.286T>C (p.Phe96Leu) c.217T>C (p.Phe73Leu) | dbSNP gnomAD v4 |
9 | g.126615529T>G | CA374910168 | LMX1B | c.286T>G (p.Phe96Val) c.217T>G (p.Phe73Val) | |
9 | g.126615529T= | CA1879436198 | LMX1B | c.286T= (p.Phe96=) c.217T= (p.Phe73=) | |
9 | g.126615530T>A | CA374910170 | LMX1B | c.287T>A (p.Phe96Tyr) c.218T>A (p.Phe73Tyr) | |
9 | g.126615530T>C | CA374910171 | LMX1B | c.287T>C (p.Phe96Ser) c.218T>C (p.Phe73Ser) | |
9 | g.126615530T>G | CA5242257 | LMX1B | c.287T>G (p.Phe96Cys) c.218T>G (p.Phe73Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.126615530T= | CA1879436199 | LMX1B | c.287T= (p.Phe96=) c.218T= (p.Phe73=) | |
9 | g.126615531C>A | CA374910172 | LMX1B | c.288C>A (p.Phe96Leu) c.219C>A (p.Phe73Leu) | gnomAD v4 |
9 | g.126615531C>G | CA374910173 | LMX1B | c.288C>G (p.Phe96Leu) c.219C>G (p.Phe73Leu) | |
9 | g.126615531C>T | CA467136387 | LMX1B | c.288C>T (p.Phe96=) c.219C>T (p.Phe73=) | |
9 | g.126615532C>A | CA467136388 | LMX1B | c.289C>A (p.Arg97=) c.220C>A (p.Arg74=) | |
9 | g.126615532C= | CA1879436200 | LMX1B | c.289C= (p.Arg97=) c.220C= (p.Arg74=) | |
9 | g.126615532C>G | CA374910174 | LMX1B | c.289C>G (p.Arg97Gly) c.220C>G (p.Arg74Gly) | |
9 | g.126615532C>T | CA374910175 | LMX1B | c.289C>T (p.Arg97Trp) c.220C>T (p.Arg74Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.126615532_126615534del | CA2573144037 | LMX1B | c.289_291del (p.Arg97del) c.220_222del (p.Arg74del) | ClinVar dbSNP |
9 | g.126615533G>A | CA374910176 | LMX1B | c.290G>A (p.Arg97Gln) c.221G>A (p.Arg74Gln) | |
9 | g.126615533G>C | CA374910177 | LMX1B | c.290G>C (p.Arg97Pro) c.221G>C (p.Arg74Pro) | |
9 | g.126615533G>T | CA374910178 | LMX1B | c.290G>T (p.Arg97Leu) c.221G>T (p.Arg74Leu) | |
9 | g.126615534G>A | CA467136392 | LMX1B | c.291G>A (p.Arg97=) c.222G>A (p.Arg74=) | dbSNP gnomAD v4 |
9 | g.126615534G>C | CA467136393 | LMX1B | c.291G>C (p.Arg97=) c.222G>C (p.Arg74=) | gnomAD v4 |
9 | g.126615534G= | CA1879436201 | LMX1B | c.291G= (p.Arg97=) c.222G= (p.Arg74=) | |
9 | g.126615534G>T | CA467136394 | LMX1B | c.291G>T (p.Arg97=) c.222G>T (p.Arg74=) | |
9 | g.126615535G>A | CA374910179 | LMX1B | c.292G>A (p.Asp98Asn) c.223G>A (p.Asp75Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.126615535G>C | CA374910180 | LMX1B | c.292G>C (p.Asp98His) c.223G>C (p.Asp75His) | |
9 | g.126615535G= | CA1879436202 | LMX1B | c.292G= (p.Asp98=) c.223G= (p.Asp75=) | |
9 | g.126615535G>T | CA374910181 | LMX1B | c.292G>T (p.Asp98Tyr) c.223G>T (p.Asp75Tyr) | |
9 | g.126615536A>C | CA374910184 | LMX1B | c.293A>C (p.Asp98Ala) c.224A>C (p.Asp75Ala) | |
9 | g.126615536A>G | CA374910182 | LMX1B | c.293A>G (p.Asp98Gly) c.224A>G (p.Asp75Gly) | |
9 | g.126615536A>T | CA374910183 | LMX1B | c.293A>T (p.Asp98Val) c.224A>T (p.Asp75Val) | |
9 | g.126615537T>A | CA374910185 | LMX1B | c.294T>A (p.Asp98Glu) c.225T>A (p.Asp75Glu) | |
9 | g.126615537T>C | CA467136399 | LMX1B | c.294T>C (p.Asp98=) c.225T>C (p.Asp75=) | |
9 | g.126615537T>G | CA374910186 | LMX1B | c.294T>G (p.Asp98Glu) c.225T>G (p.Asp75Glu) | |
9 | g.126615538C>A | CA5242258 | LMX1B | c.295C>A (p.Arg99=) c.226C>A (p.Arg76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.126615538C= | CA1879436203 | LMX1B | c.295C= (p.Arg99=) c.226C= (p.Arg76=) | |
9 | g.126615538C>G | CA374910187 | LMX1B | c.295C>G (p.Arg99Gly) c.226C>G (p.Arg76Gly) | |
9 | g.126615538C>T | CA374910188 | LMX1B | c.295C>T (p.Arg99Trp) c.226C>T (p.Arg76Trp) | |
9 | g.126615539G>A | CA374910189 | LMX1B | c.296G>A (p.Arg99Gln) c.227G>A (p.Arg76Gln) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615539G>C | CA374910190 | LMX1B | c.296G>C (p.Arg99Pro) c.227G>C (p.Arg76Pro) | |
9 | g.126615539G= | CA1879436204 | LMX1B | c.296G= (p.Arg99=) c.227G= (p.Arg76=) | |
9 | g.126615539G>T | CA374910191 | LMX1B | c.296G>T (p.Arg99Leu) c.227G>T (p.Arg76Leu) | |
9 | g.126615540del | CA2499219612 | LMX1B | c.297del (p.Lys100AsnfsTer29) c.228del (p.Lys77AsnfsTer29) | ClinVar dbSNP |
9 | g.126615540G>A | CA467136402 | LMX1B | c.297G>A (p.Arg99=) c.228G>A (p.Arg76=) | |
9 | g.126615540G>C | CA467136400 | LMX1B | c.297G>C (p.Arg99=) c.228G>C (p.Arg76=) | |
9 | g.126615540G>T | CA467136401 | LMX1B | c.297G>T (p.Arg99=) c.228G>T (p.Arg76=) | gnomAD v4 |
9 | g.126615541A>C | CA374910192 | LMX1B | c.298A>C (p.Lys100Gln) c.229A>C (p.Lys77Gln) | |
9 | g.126615541A>G | CA374910193 | LMX1B | c.298A>G (p.Lys100Glu) c.229A>G (p.Lys77Glu) | |
9 | g.126615541A>T | CA374910194 | LMX1B | c.298A>T (p.Lys100Ter) c.229A>T (p.Lys77Ter) | |
9 | g.126615542A>C | CA374910197 | LMX1B | c.299A>C (p.Lys100Thr) c.230A>C (p.Lys77Thr) | gnomAD v4 |
9 | g.126615542A>G | CA374910196 | LMX1B | c.299A>G (p.Lys100Arg) c.230A>G (p.Lys77Arg) | |
9 | g.126615542A>T | CA374910195 | LMX1B | c.299A>T (p.Lys100Ile) c.230A>T (p.Lys77Ile) | |
9 | g.126615543A>C | CA374910198 | LMX1B | c.300A>C (p.Lys100Asn) c.231A>C (p.Lys77Asn) | |
9 | g.126615543A>G | CA467136403 | LMX1B | c.300A>G (p.Lys100=) c.231A>G (p.Lys77=) | gnomAD v4 |
9 | g.126615543A>T | CA374910199 | LMX1B | c.300A>T (p.Lys100Asn) c.231A>T (p.Lys77Asn) | |
9 | g.126615544C>A | CA374910200 | LMX1B | c.301C>A (p.Leu101Met) c.232C>A (p.Leu78Met) | |
9 | g.126615544C>G | CA374910201 | LMX1B | c.301C>G (p.Leu101Val) c.232C>G (p.Leu78Val) | |
9 | g.126615544C>T | CA467136404 | LMX1B | c.301C>T (p.Leu101=) c.232C>T (p.Leu78=) | |
9 | g.126615544_126615546delinsCTG | CA1879436205 | LMX1B | c.301_303delinsCTG (p.Leu101=) c.232_234delinsCTG (p.Leu78=) | |
9 | g.126615545T>A | CA374910202 | LMX1B | c.302T>A (p.Leu101Gln) c.233T>A (p.Leu78Gln) | |
9 | g.126615545T>C | CA374910204 | LMX1B | c.302T>C (p.Leu101Pro) c.233T>C (p.Leu78Pro) | |
9 | g.126615545T>G | CA374910203 | LMX1B | c.302T>G (p.Leu101Arg) c.233T>G (p.Leu78Arg) | |
9 | g.126615546_126615547del | CA590568532 | LMX1B | c.303_304del (p.Tyr102LeufsTer?) c.234_235del (p.Tyr79LeufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.126615546G>A | CA467136405 | LMX1B | c.303G>A (p.Leu101=) c.234G>A (p.Leu78=) | |
9 | g.126615546G>C | CA467136406 | LMX1B | c.303G>C (p.Leu101=) c.234G>C (p.Leu78=) | |
9 | g.126615546G>T | CA467136407 | LMX1B | c.303G>T (p.Leu101=) c.234G>T (p.Leu78=) | gnomAD v4 |
9 | g.126615547T>A | CA374910205 | LMX1B | c.304T>A (p.Tyr102Asn) c.235T>A (p.Tyr79Asn) | |
9 | g.126615547T>C | CA374910207 | LMX1B | c.304T>C (p.Tyr102His) c.235T>C (p.Tyr79His) | |
9 | g.126615547T>G | CA374910206 | LMX1B | c.304T>G (p.Tyr102Asp) c.235T>G (p.Tyr79Asp) | |
9 | g.126615548A= | CA1879436206 | LMX1B | c.305A= (p.Tyr102=) c.236A= (p.Tyr79=) | |
9 | g.126615548A>C | CA374910208 | LMX1B | c.305A>C (p.Tyr102Ser) c.236A>C (p.Tyr79Ser) | |
9 | g.126615548A>G | CA374910210 | LMX1B | c.305A>G (p.Tyr102Cys) c.236A>G (p.Tyr79Cys) | ClinVar dbSNP |
9 | g.126615548A>T | CA374910209 | LMX1B | c.305A>T (p.Tyr102Phe) c.236A>T (p.Tyr79Phe) | |
9 | g.126615549C>A | CA374910211 | LMX1B | c.306C>A (p.Tyr102Ter) c.237C>A (p.Tyr79Ter) | |
9 | g.126615549C= | CA1879436207 | LMX1B | c.306C= (p.Tyr102=) c.237C= (p.Tyr79=) | |
9 | g.126615549C>G | CA339745 | LMX1B | c.306C>G (p.Tyr102Ter) c.237C>G (p.Tyr79Ter) | ClinVar dbSNP |
9 | g.126615549C>T | CA467136408 | LMX1B | c.306C>T (p.Tyr102=) c.237C>T (p.Tyr79=) | |
9 | g.126615550T>A | CA374910212 | LMX1B | c.307T>A (p.Cys103Ser) c.238T>A (p.Cys80Ser) | |
9 | g.126615550T>C | CA374910214 | LMX1B | c.307T>C (p.Cys103Arg) c.238T>C (p.Cys80Arg) | |
9 | g.126615550T>G | CA374910213 | LMX1B | c.307T>G (p.Cys103Gly) c.238T>G (p.Cys80Gly) | |
9 | g.126615551G>A | CA374910215 | LMX1B | c.308G>A (p.Cys103Tyr) c.239G>A (p.Cys80Tyr) | gnomAD v4 |
9 | g.126615551G>C | CA374910217 | LMX1B | c.308G>C (p.Cys103Ser) c.239G>C (p.Cys80Ser) | |
9 | g.126615551G>T | CA374910216 | LMX1B | c.308G>T (p.Cys103Phe) c.239G>T (p.Cys80Phe) | COSMIC COSMIC COSMIC |
9 | g.126615552C>A | CA374910218 | LMX1B | c.309C>A (p.Cys103Ter) c.240C>A (p.Cys80Ter) | |
9 | g.126615552C>G | CA374910219 | LMX1B | c.309C>G (p.Cys103Trp) c.240C>G (p.Cys80Trp) | |
9 | g.126615552C>T | CA467136409 | LMX1B | c.309C>T (p.Cys103=) c.240C>T (p.Cys80=) | |
9 | g.126615553A>C | CA374910220 | LMX1B | c.310A>C (p.Lys104Gln) c.241A>C (p.Lys81Gln) | |
9 | g.126615553A>G | CA374910221 | LMX1B | c.310A>G (p.Lys104Glu) c.241A>G (p.Lys81Glu) | |
9 | g.126615553A>T | CA374910222 | LMX1B | c.310A>T (p.Lys104Ter) c.241A>T (p.Lys81Ter) | |
9 | g.126615555dup | CA2695211129 | LMX1B | c.312dup (p.Gln105ThrfsTer?) c.243dup (p.Gln82ThrfsTer?) | |
9 | g.126615555del | CA2695211128 | LMX1B | c.312del (p.Lys104AsnfsTer25) c.243del (p.Lys81AsnfsTer25) | |
9 | g.126615554A= | CA1879436208 | LMX1B | c.311A= (p.Lys104=) c.242A= (p.Lys81=) | |
9 | g.126615554A>C | CA374910223 | LMX1B | c.311A>C (p.Lys104Thr) c.242A>C (p.Lys81Thr) | |
9 | g.126615554A>G | CA374910224 | LMX1B | c.311A>G (p.Lys104Arg) c.242A>G (p.Lys81Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.126615554A>T | CA374910225 | LMX1B | c.311A>T (p.Lys104Ile) c.242A>T (p.Lys81Ile) | |
9 | g.126615555A>C | CA374910226 | LMX1B | c.312A>C (p.Lys104Asn) c.243A>C (p.Lys81Asn) | |
9 | g.126615555A>G | CA467136410 | LMX1B | c.312A>G (p.Lys104=) c.243A>G (p.Lys81=) | |
9 | g.126615555A>T | CA374910227 | LMX1B | c.312A>T (p.Lys104Asn) c.243A>T (p.Lys81Asn) | |
9 | g.126615556del | CA2695211130 | LMX1B | c.313del (p.Gln105LysfsTer24) c.244del (p.Gln82LysfsTer24) | |
9 | g.126615556C>A | CA374910228 | LMX1B | c.313C>A (p.Gln105Lys) c.244C>A (p.Gln82Lys) | |
9 | g.126615556C>G | CA374910229 | LMX1B | c.313C>G (p.Gln105Glu) c.244C>G (p.Gln82Glu) | |
9 | g.126615556C>T | CA374910230 | LMX1B | c.313C>T (p.Gln105Ter) c.244C>T (p.Gln82Ter) | |
9 | g.126615557A>C | CA374910233 | LMX1B | c.314A>C (p.Gln105Pro) c.245A>C (p.Gln82Pro) | |
9 | g.126615557A>G | CA374910231 | LMX1B | c.314A>G (p.Gln105Arg) c.245A>G (p.Gln82Arg) | gnomAD v4 |
9 | g.126615557A>T | CA374910232 | LMX1B | c.314A>T (p.Gln105Leu) c.245A>T (p.Gln82Leu) | |
9 | g.126615558A>C | CA374910234 | LMX1B | c.315A>C (p.Gln105His) c.246A>C (p.Gln82His) | |
9 | g.126615558A>G | CA467136411 | LMX1B | c.315A>G (p.Gln105=) c.246A>G (p.Gln82=) | |
9 | g.126615558A>T | CA374910235 | LMX1B | c.315A>T (p.Gln105His) c.246A>T (p.Gln82His) | |
9 | g.126615559G>A | CA374910236 | LMX1B | c.316G>A (p.Asp106Asn) c.247G>A (p.Asp83Asn) | |
9 | g.126615559G>C | CA374910237 | LMX1B | c.316G>C (p.Asp106His) c.247G>C (p.Asp83His) | |
9 | g.126615559G>T | CA374910238 | LMX1B | c.316G>T (p.Asp106Tyr) c.247G>T (p.Asp83Tyr) | |
9 | g.126615560A>C | CA374910239 | LMX1B | c.317A>C (p.Asp106Ala) c.248A>C (p.Asp83Ala) | ClinVar |
9 | g.126615560A>G | CA374910240 | LMX1B | c.317A>G (p.Asp106Gly) c.248A>G (p.Asp83Gly) | gnomAD v4 |
9 | g.126615560A>T | CA374910241 | LMX1B | c.317A>T (p.Asp106Val) c.248A>T (p.Asp83Val) | |
9 | g.126615561C>A | CA374910242 | LMX1B | c.318C>A (p.Asp106Glu) c.249C>A (p.Asp83Glu) | |
9 | g.126615561C>G | CA374910243 | LMX1B | c.318C>G (p.Asp106Glu) c.249C>G (p.Asp83Glu) | |
9 | g.126615561C>T | CA467136412 | LMX1B | c.318C>T (p.Asp106=) c.249C>T (p.Asp83=) | gnomAD v4 |
9 | g.126615562T>A | CA374910245 | LMX1B | c.319T>A (p.Tyr107Asn) c.250T>A (p.Tyr84Asn) | gnomAD v4 |
9 | g.126615562T>C | CA374910246 | LMX1B | c.319T>C (p.Tyr107His) c.250T>C (p.Tyr84His) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.126615562T>G | CA374910244 | LMX1B | c.319T>G (p.Tyr107Asp) c.250T>G (p.Tyr84Asp) | ClinVar |
9 | g.126615562T= | CA1879436209 | LMX1B | c.319T= (p.Tyr107=) c.250T= (p.Tyr84=) | |
9 | g.126615562_126615563dup | CA2573053091 | LMX1B | c.319_320dup (p.Gln108ThrfsTer22) c.250_251dup (p.Gln85ThrfsTer22) | ClinVar dbSNP |
9 | g.126615563del | CA2695211131 | LMX1B | c.320del (p.Tyr107SerfsTer22) c.251del (p.Tyr84SerfsTer22) | |
9 | g.126615563A>C | CA374910247 | LMX1B | c.320A>C (p.Tyr107Ser) c.251A>C (p.Tyr84Ser) | |
9 | g.126615563A>G | CA374910248 | LMX1B | c.320A>G (p.Tyr107Cys) c.251A>G (p.Tyr84Cys) | |
9 | g.126615563A>T | CA374910249 | LMX1B | c.320A>T (p.Tyr107Phe) c.251A>T (p.Tyr84Phe) |