| 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.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 |