| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.126615387C>A | CA467136264 | LMX1B | c.144C>A (p.Ser48=) c.75C>A (p.Ser25=) | |
| 9 | g.126615387C>G | CA467136265 | LMX1B | c.144C>G (p.Ser48=) c.75C>G (p.Ser25=) | |
| 9 | g.126615387C>T | CA467136266 | LMX1B | c.144C>T (p.Ser48=) c.75C>T (p.Ser25=) | gnomAD v4 |
| 9 | g.126615388G>A | CA374909847 | LMX1B | c.145G>A (p.Asp49Asn) c.76G>A (p.Asp26Asn) | gnomAD v4 |
| 9 | g.126615388G>C | CA374909848 | LMX1B | c.145G>C (p.Asp49His) c.76G>C (p.Asp26His) | |
| 9 | g.126615388G>T | CA374909849 | LMX1B | c.145G>T (p.Asp49Tyr) c.76G>T (p.Asp26Tyr) | |
| 9 | g.126615389A>C | CA374909850 | LMX1B | c.146A>C (p.Asp49Ala) c.77A>C (p.Asp26Ala) | |
| 9 | g.126615389A>G | CA374909851 | LMX1B | c.146A>G (p.Asp49Gly) c.77A>G (p.Asp26Gly) | gnomAD v4 |
| 9 | g.126615389A>T | CA374909852 | LMX1B | c.146A>T (p.Asp49Val) c.77A>T (p.Asp26Val) | |
| 9 | g.126615390C>A | CA374909853 | LMX1B | c.147C>A (p.Asp49Glu) c.78C>A (p.Asp26Glu) | gnomAD v4 |
| 9 | g.126615390C= | CA1879436147 | LMX1B | c.147C= (p.Asp49=) c.78C= (p.Asp26=) | |
| 9 | g.126615390C>G | CA374909854 | LMX1B | c.147C>G (p.Asp49Glu) c.78C>G (p.Asp26Glu) | gnomAD v4 |
| 9 | g.126615390C>T | CA467136267 | LMX1B | c.147C>T (p.Asp49=) c.78C>T (p.Asp26=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615391T>A | CA374909855 | LMX1B | c.148T>A (p.Cys50Ser) c.79T>A (p.Cys27Ser) | gnomAD v4 |
| 9 | g.126615391T>C | CA374909856 | LMX1B | c.148T>C (p.Cys50Arg) c.79T>C (p.Cys27Arg) | gnomAD v4 |
| 9 | g.126615391T>G | CA374909857 | LMX1B | c.148T>G (p.Cys50Gly) c.79T>G (p.Cys27Gly) | |
| 9 | g.126615392G>A | CA374909860 | LMX1B | c.149G>A (p.Cys50Tyr) c.80G>A (p.Cys27Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615392G>C | CA374909859 | LMX1B | c.149G>C (p.Cys50Ser) c.80G>C (p.Cys27Ser) | gnomAD v4 |
| 9 | g.126615392G= | CA1879436148 | LMX1B | c.149G= (p.Cys50=) c.80G= (p.Cys27=) | |
| 9 | g.126615392G>T | CA374909858 | LMX1B | c.149G>T (p.Cys50Phe) c.80G>T (p.Cys27Phe) | |
| 9 | g.126615393C>A | CA374909861 | LMX1B | c.150C>A (p.Cys50Ter) c.81C>A (p.Cys27Ter) | gnomAD v4 |
| 9 | g.126615393C= | CA1879436149 | LMX1B | c.150C= (p.Cys50=) c.81C= (p.Cys27=) | |
| 9 | g.126615393C>G | CA374909862 | LMX1B | c.150C>G (p.Cys50Trp) c.81C>G (p.Cys27Trp) | |
| 9 | g.126615393C>T | CA5242239 | LMX1B | c.150C>T (p.Cys50=) c.81C>T (p.Cys27=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615394C>A | CA374909863 | LMX1B | c.151C>A (p.Pro51Thr) c.82C>A (p.Pro28Thr) | |
| 9 | g.126615394C= | CA1879436150 | LMX1B | c.151C= (p.Pro51=) c.82C= (p.Pro28=) | |
| 9 | g.126615394C>G | CA374909864 | LMX1B | c.151C>G (p.Pro51Ala) c.82C>G (p.Pro28Ala) | |
| 9 | g.126615394C>T | CA374909865 | LMX1B | c.151C>T (p.Pro51Ser) c.82C>T (p.Pro28Ser) | dbSNP |
| 9 | g.126615395C>A | CA374909866 | LMX1B | c.152C>A (p.Pro51Gln) c.83C>A (p.Pro28Gln) | gnomAD v4 |
| 9 | g.126615395C>G | CA374909867 | LMX1B | c.152C>G (p.Pro51Arg) c.83C>G (p.Pro28Arg) | |
| 9 | g.126615395C>T | CA374909868 | LMX1B | c.152C>T (p.Pro51Leu) c.83C>T (p.Pro28Leu) | gnomAD v4 |
| 9 | g.126615396G>A | CA467136270 | LMX1B | c.153G>A (p.Pro51=) c.84G>A (p.Pro28=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615396G>C | CA467136269 | LMX1B | c.153G>C (p.Pro51=) c.84G>C (p.Pro28=) | |
| 9 | g.126615396G= | CA1879436151 | LMX1B | c.153G= (p.Pro51=) c.84G= (p.Pro28=) | |
| 9 | g.126615396G>T | CA467136268 | LMX1B | c.153G>T (p.Pro51=) c.84G>T (p.Pro28=) | dbSNP gnomAD v4 |
| 9 | g.126615398_126615424del | CA2691711516 | LMX1B | c.155_181del (p.His52_Gln60del) c.86_112del (p.His29_Gln37del) | gnomAD v4 |
| 9 | g.126615397C>A | CA374909869 | LMX1B | c.154C>A (p.His52Asn) c.85C>A (p.His29Asn) | |
| 9 | g.126615397C>G | CA374909870 | LMX1B | c.154C>G (p.His52Asp) c.85C>G (p.His29Asp) | |
| 9 | g.126615397C>T | CA374909871 | LMX1B | c.154C>T (p.His52Tyr) c.85C>T (p.His29Tyr) | COSMIC COSMIC COSMIC |
| 9 | g.126615398A>C | CA374909874 | LMX1B | c.155A>C (p.His52Pro) c.86A>C (p.His29Pro) | |
| 9 | g.126615398A>G | CA374909873 | LMX1B | c.155A>G (p.His52Arg) c.86A>G (p.His29Arg) | |
| 9 | g.126615398A>T | CA374909872 | LMX1B | c.155A>T (p.His52Leu) c.86A>T (p.His29Leu) | |
| 9 | g.126615399T>A | CA374909876 | LMX1B | c.156T>A (p.His52Gln) c.87T>A (p.His29Gln) | |
| 9 | g.126615399T>C | CA467136271 | LMX1B | c.156T>C (p.His52=) c.87T>C (p.His29=) | |
| 9 | g.126615399T>G | CA374909875 | LMX1B | c.156T>G (p.His52Gln) c.87T>G (p.His29Gln) | |
| 9 | g.126615400C>A | CA374909877 | LMX1B | c.157C>A (p.Pro53Thr) c.88C>A (p.Pro30Thr) | |
| 9 | g.126615400C= | CA1879436152 | LMX1B | c.157C= (p.Pro53=) c.88C= (p.Pro30=) | |
| 9 | g.126615400C>G | CA374909878 | LMX1B | c.157C>G (p.Pro53Ala) c.88C>G (p.Pro30Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615400C>T | CA374909879 | LMX1B | c.157C>T (p.Pro53Ser) c.88C>T (p.Pro30Ser) | gnomAD v4 |
| 9 | g.126615401C>A | CA374909880 | LMX1B | c.158C>A (p.Pro53His) c.89C>A (p.Pro30His) |