UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | |
| 9 | g.126615401C= | CA1879436153 | LMX1B | c.158C= (p.Pro53=) c.89C= (p.Pro30=) | |
| 9 | g.126615401C>G | CA374909881 | LMX1B | c.158C>G (p.Pro53Arg) c.89C>G (p.Pro30Arg) | |
| 9 | g.126615401C>T | CA374909882 | LMX1B | c.158C>T (p.Pro53Leu) c.89C>T (p.Pro30Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615402C>A | CA467136272 | LMX1B | c.159C>A (p.Pro53=) c.90C>A (p.Pro30=) | |
| 9 | g.126615402C>G | CA467136273 | LMX1B | c.159C>G (p.Pro53=) c.90C>G (p.Pro30=) | |
| 9 | g.126615402C>T | CA467136274 | LMX1B | c.159C>T (p.Pro53=) c.90C>T (p.Pro30=) | gnomAD v4 |
| 9 | g.126615403G>A | CA374909883 | LMX1B | c.160G>A (p.Ala54Thr) c.91G>A (p.Ala31Thr) | gnomAD v4 |
| 9 | g.126615403G>C | CA374909884 | LMX1B | c.160G>C (p.Ala54Pro) c.91G>C (p.Ala31Pro) | gnomAD v4 |
| 9 | g.126615403G>T | CA374909885 | LMX1B | c.160G>T (p.Ala54Ser) c.91G>T (p.Ala31Ser) | gnomAD v4 |
| 9 | g.126615404C>A | CA374909886 | LMX1B | c.161C>A (p.Ala54Asp) c.92C>A (p.Ala31Asp) | |
| 9 | g.126615404C= | CA1879436154 | LMX1B | c.161C= (p.Ala54=) c.92C= (p.Ala31=) | |
| 9 | g.126615404C>G | CA374909887 | LMX1B | c.161C>G (p.Ala54Gly) c.92C>G (p.Ala31Gly) | |
| 9 | g.126615404C>T | CA5242240 | LMX1B | c.161C>T (p.Ala54Val) c.92C>T (p.Ala31Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615405C>A | CA5242241 | LMX1B | c.162C>A (p.Ala54=) c.93C>A (p.Ala31=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615405C= | CA1879436155 | LMX1B | c.162C= (p.Ala54=) c.93C= (p.Ala31=) | |
| 9 | g.126615405C>G | CA467136275 | LMX1B | c.162C>G (p.Ala54=) c.93C>G (p.Ala31=) | dbSNP gnomAD v4 |
| 9 | g.126615405C>T | CA5242242 | LMX1B | c.162C>T (p.Ala54=) c.93C>T (p.Ala31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615406G>A | CA374909888 | LMX1B | c.163G>A (p.Val55Ile) c.94G>A (p.Val32Ile) | dbSNP gnomAD v4 |
| 9 | g.126615406G>C | CA374909889 | LMX1B | c.163G>C (p.Val55Leu) c.94G>C (p.Val32Leu) | |
| 9 | g.126615406G= | CA1879436156 | LMX1B | c.163G= (p.Val55=) c.94G= (p.Val32=) | |
| 9 | g.126615406G>T | CA374909890 | LMX1B | c.163G>T (p.Val55Phe) c.94G>T (p.Val32Phe) | |
| 9 | g.126615407T>A | CA374909891 | LMX1B | c.164T>A (p.Val55Asp) c.95T>A (p.Val32Asp) | |
| 9 | g.126615407T>C | CA374909892 | LMX1B | c.164T>C (p.Val55Ala) c.95T>C (p.Val32Ala) | |
| 9 | g.126615407T>G | CA374909893 | LMX1B | c.164T>G (p.Val55Gly) c.95T>G (p.Val32Gly) | |
| 9 | g.126615408C>A | CA467136276 | LMX1B | c.165C>A (p.Val55=) c.96C>A (p.Val32=) | |
| 9 | g.126615408C>G | CA467136277 | LMX1B | c.165C>G (p.Val55=) c.96C>G (p.Val32=) | |
| 9 | g.126615408C>T | CA467136278 | LMX1B | c.165C>T (p.Val55=) c.96C>T (p.Val32=) | gnomAD v4 |
| 9 | g.126615409T>A | CA374909894 | LMX1B | c.166T>A (p.Cys56Ser) c.97T>A (p.Cys33Ser) | |
| 9 | g.126615409T>C | CA374909895 | LMX1B | c.166T>C (p.Cys56Arg) c.97T>C (p.Cys33Arg) | |
| 9 | g.126615409T>G | CA374909896 | LMX1B | c.166T>G (p.Cys56Gly) c.97T>G (p.Cys33Gly) | |
| 9 | g.126615410G>A | CA374909897 | LMX1B | c.167G>A (p.Cys56Tyr) c.98G>A (p.Cys33Tyr) | |
| 9 | g.126615410G>C | CA374909898 | LMX1B | c.167G>C (p.Cys56Ser) c.98G>C (p.Cys33Ser) | |
| 9 | g.126615410G>T | CA374909899 | LMX1B | c.167G>T (p.Cys56Phe) c.98G>T (p.Cys33Phe) | gnomAD v4 |
| 9 | g.126615411C>A | CA374909900 | LMX1B | c.168C>A (p.Cys56Ter) c.99C>A (p.Cys33Ter) | |
| 9 | g.126615411C>G | CA374909901 | LMX1B | c.168C>G (p.Cys56Trp) c.99C>G (p.Cys33Trp) | |
| 9 | g.126615411C>T | CA467136279 | LMX1B | c.168C>T (p.Cys56=) c.99C>T (p.Cys33=) | gnomAD v4 |
| 9 | g.126615412G>A | CA374909903 | LMX1B | c.169G>A (p.Glu57Lys) c.100G>A (p.Glu34Lys) | |
| 9 | g.126615412G>C | CA374909904 | LMX1B | c.169G>C (p.Glu57Gln) c.100G>C (p.Glu34Gln) | |
| 9 | g.126615412G= | CA1879436157 | LMX1B | c.169G= (p.Glu57=) c.100G= (p.Glu34=) | |
| 9 | g.126615412G>T | CA374909902 | LMX1B | c.169G>T (p.Glu57Ter) c.100G>T (p.Glu34Ter) | ClinVar dbSNP |
| 9 | g.126615413A>C | CA374909905 | LMX1B | c.170A>C (p.Glu57Ala) c.101A>C (p.Glu34Ala) | |
| 9 | g.126615413A>G | CA374909907 | LMX1B | c.170A>G (p.Glu57Gly) c.101A>G (p.Glu34Gly) | |
| 9 | g.126615413A>T | CA374909906 | LMX1B | c.170A>T (p.Glu57Val) c.101A>T (p.Glu34Val) | |
| 9 | g.126615414G>A | CA467136280 | LMX1B | c.171G>A (p.Glu57=) c.102G>A (p.Glu34=) | |
| 9 | g.126615414G>C | CA374909908 | LMX1B | c.171G>C (p.Glu57Asp) c.102G>C (p.Glu34Asp) | |
| 9 | g.126615414G>T | CA374909909 | LMX1B | c.171G>T (p.Glu57Asp) c.102G>T (p.Glu34Asp) | gnomAD v4 |
| 9 | g.126615415G>A | CA374909910 | LMX1B | c.172G>A (p.Gly58Ser) c.103G>A (p.Gly35Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615415G>C | CA374909911 | LMX1B | c.172G>C (p.Gly58Arg) c.103G>C (p.Gly35Arg) | |
| 9 | g.126615415G= | CA1879436158 | LMX1B | c.172G= (p.Gly58=) c.103G= (p.Gly35=) | |
| 9 | g.126615415G>T | CA374909912 | LMX1B | c.172G>T (p.Gly58Cys) c.103G>T (p.Gly35Cys) | |
| 9 | g.126615416G>A | CA374909913 | LMX1B | c.173G>A (p.Gly58Asp) c.104G>A (p.Gly35Asp) | gnomAD v4 |
| 9 | g.126615416G>C | CA374909914 | LMX1B | c.173G>C (p.Gly58Ala) c.104G>C (p.Gly35Ala) | |
| 9 | g.126615416G>T | CA374909915 | LMX1B | c.173G>T (p.Gly58Val) c.104G>T (p.Gly35Val) | gnomAD v4 |
| 9 | g.126615417C>A | CA467136281 | LMX1B | c.174C>A (p.Gly58=) c.105C>A (p.Gly35=) | |
| 9 | g.126615417C>G | CA467136282 | LMX1B | c.174C>G (p.Gly58=) c.105C>G (p.Gly35=) | |
| 9 | g.126615417C>T | CA467136283 | LMX1B | c.174C>T (p.Gly58=) c.105C>T (p.Gly35=) | |
| 9 | g.126615418del | CA2691711517 | LMX1B | c.175del (p.Cys59AlafsTer10) c.106del (p.Cys36AlafsTer10) | gnomAD v4 |
| 9 | g.126615418T>A | CA374909916 | LMX1B | c.175T>A (p.Cys59Ser) c.106T>A (p.Cys36Ser) | |
| 9 | g.126615418T>C | CA374909917 | LMX1B | c.175T>C (p.Cys59Arg) c.106T>C (p.Cys36Arg) | ClinVar gnomAD v4 |
| 9 | g.126615418T>G | CA374909918 | LMX1B | c.175T>G (p.Cys59Gly) c.106T>G (p.Cys36Gly) | |
| 9 | g.126615419G>A | CA374909921 | LMX1B | c.176G>A (p.Cys59Tyr) c.107G>A (p.Cys36Tyr) | |
| 9 | g.126615419G>C | CA374909919 | LMX1B | c.176G>C (p.Cys59Ser) c.107G>C (p.Cys36Ser) | |
| 9 | g.126615419G= | CA1879436159 | LMX1B | c.176G= (p.Cys59=) c.107G= (p.Cys36=) | |
| 9 | g.126615419G>T | CA374909920 | LMX1B | c.176G>T (p.Cys59Phe) c.107G>T (p.Cys36Phe) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126615420C>A | CA374909922 | LMX1B | c.177C>A (p.Cys59Ter) c.108C>A (p.Cys36Ter) | |
| 9 | g.126615420C>G | CA374909923 | LMX1B | c.177C>G (p.Cys59Trp) c.108C>G (p.Cys36Trp) | |
| 9 | g.126615420C>T | CA467136284 | LMX1B | c.177C>T (p.Cys59=) c.108C>T (p.Cys36=) | gnomAD v4 |
| 9 | g.126615421C>A | CA374909924 | LMX1B | c.178C>A (p.Gln60Lys) c.109C>A (p.Gln37Lys) | |
| 9 | g.126615421C>G | CA374909925 | LMX1B | c.178C>G (p.Gln60Glu) c.109C>G (p.Gln37Glu) | |
| 9 | g.126615421C>T | CA374909926 | LMX1B | c.178C>T (p.Gln60Ter) c.109C>T (p.Gln37Ter) | ClinVar dbSNP |
| 9 | g.126615422A>C | CA374909927 | LMX1B | c.179A>C (p.Gln60Pro) c.110A>C (p.Gln37Pro) | |
| 9 | g.126615422A>G | CA374909928 | LMX1B | c.179A>G (p.Gln60Arg) c.110A>G (p.Gln37Arg) | gnomAD v4 |
| 9 | g.126615422A>T | CA374909929 | LMX1B | c.179A>T (p.Gln60Leu) c.110A>T (p.Gln37Leu) | |
| 9 | g.126615422_126615425dup | CA2573332442 | LMX1B | c.179_182dup (p.Pro62AlafsTer?) c.110_113dup (p.Pro39AlafsTer?) | |
| 9 | g.126615423G>A | CA5242243 | LMX1B | c.180G>A (p.Gln60=) c.111G>A (p.Gln37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615423G>C | CA374909930 | LMX1B | c.180G>C (p.Gln60His) c.111G>C (p.Gln37His) | |
| 9 | g.126615423G= | CA1879436160 | LMX1B | c.180G= (p.Gln60=) c.111G= (p.Gln37=) | |
| 9 | g.126615423G>T | CA374909931 | LMX1B | c.180G>T (p.Gln60His) c.111G>T (p.Gln37His) | |
| 9 | g.126615424C>A | CA467136286 | LMX1B | c.181C>A (p.Arg61=) c.112C>A (p.Arg38=) | |
| 9 | g.126615424C= | CA1879436161 | LMX1B | c.181C= (p.Arg61=) c.112C= (p.Arg38=) | |
| 9 | g.126615424C>G | CA5242244 | LMX1B | c.181C>G (p.Arg61Gly) c.112C>G (p.Arg38Gly) | dbSNP ExAC gnomAD v2 |
| 9 | g.126615424C>T | CA374909932 | LMX1B | c.181C>T (p.Arg61Trp) c.112C>T (p.Arg38Trp) | gnomAD v4 |
| 9 | g.126615425G>A | CA374909933 | LMX1B | c.182G>A (p.Arg61Gln) c.113G>A (p.Arg38Gln) | |
| 9 | g.126615425G>C | CA374909934 | LMX1B | c.182G>C (p.Arg61Pro) c.113G>C (p.Arg38Pro) | ClinVar dbSNP |
| 9 | g.126615425G>T | CA374909935 | LMX1B | c.182G>T (p.Arg61Leu) c.113G>T (p.Arg38Leu) | |
| 9 | g.126615426G>A | CA467136287 | LMX1B | c.183G>A (p.Arg61=) c.114G>A (p.Arg38=) | |
| 9 | g.126615426G>C | CA467136288 | LMX1B | c.183G>C (p.Arg61=) c.114G>C (p.Arg38=) | |
| 9 | g.126615426G= | CA1879436162 | LMX1B | c.183G= (p.Arg61=) c.114G= (p.Arg38=) | |
| 9 | g.126615426G>T | CA5242245 | LMX1B | c.183G>T (p.Arg61=) c.114G>T (p.Arg38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615427C>A | CA5242247 | LMX1B | c.184C>A (p.Pro62Thr) c.115C>A (p.Pro39Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615427C= | CA1879436163 | LMX1B | c.184C= (p.Pro62=) c.115C= (p.Pro39=) | |
| 9 | g.126615427C>G | CA374909936 | LMX1B | c.184C>G (p.Pro62Ala) c.115C>G (p.Pro39Ala) | |
| 9 | g.126615427C>T | CA5242246 | LMX1B | c.184C>T (p.Pro62Ser) c.115C>T (p.Pro39Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615429del | CA2695211119 | LMX1B | c.186del (p.Ile63SerfsTer6) c.117del (p.Ile40SerfsTer6) | |
| 9 | g.126615428C>A | CA374909937 | LMX1B | c.185C>A (p.Pro62His) c.116C>A (p.Pro39His) | |
| 9 | g.126615428C>G | CA374909939 | LMX1B | c.185C>G (p.Pro62Arg) c.116C>G (p.Pro39Arg) | gnomAD v4 |
| 9 | g.126615428C>T | CA374909938 | LMX1B | c.185C>T (p.Pro62Leu) c.116C>T (p.Pro39Leu) | gnomAD v4 |
| 9 | g.126615429C>A | CA467136291 | LMX1B | c.186C>A (p.Pro62=) c.117C>A (p.Pro39=) | |
| 9 | g.126615429C= | CA1879436164 | LMX1B | c.186C= (p.Pro62=) c.117C= (p.Pro39=) | |
| 9 | g.126615429C>G | CA467136290 | LMX1B | c.186C>G (p.Pro62=) c.117C>G (p.Pro39=) | |
| 9 | g.126615429C>T | CA5242248 | LMX1B | c.186C>T (p.Pro62=) c.117C>T (p.Pro39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615429_126615430insGAG | CA590568323 | LMX1B | c.186_187insGAG (p.Pro62_Ile63insGlu) c.117_118insGAG (p.Pro39_Ile40insGlu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615430A>C | CA374909940 | LMX1B | c.187A>C (p.Ile63Leu) c.118A>C (p.Ile40Leu) | |
| 9 | g.126615430A>G | CA374909941 | LMX1B | c.187A>G (p.Ile63Val) c.118A>G (p.Ile40Val) | |
| 9 | g.126615430A>T | CA374909942 | LMX1B | c.187A>T (p.Ile63Phe) c.118A>T (p.Ile40Phe) | gnomAD v4 |
| 9 | g.126615431T>A | CA374909943 | LMX1B | c.188T>A (p.Ile63Asn) c.119T>A (p.Ile40Asn) | |
| 9 | g.126615431T>C | CA374909945 | LMX1B | c.188T>C (p.Ile63Thr) c.119T>C (p.Ile40Thr) | |
| 9 | g.126615431T>G | CA374909944 | LMX1B | c.188T>G (p.Ile63Ser) c.119T>G (p.Ile40Ser) | |
| 9 | g.126615432C>A | CA467136293 | LMX1B | c.189C>A (p.Ile63=) c.120C>A (p.Ile40=) | |
| 9 | g.126615432C= | CA1879436165 | LMX1B | c.189C= (p.Ile63=) c.120C= (p.Ile40=) | |
| 9 | g.126615432C>G | CA374909946 | LMX1B | c.189C>G (p.Ile63Met) c.120C>G (p.Ile40Met) | |
| 9 | g.126615432C>T | CA467136294 | LMX1B | c.189C>T (p.Ile63=) c.120C>T (p.Ile40=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615433T>A | CA374909947 | LMX1B | c.190T>A (p.Ser64Thr) c.121T>A (p.Ser41Thr) | |
| 9 | g.126615433T>C | CA374909948 | LMX1B | c.190T>C (p.Ser64Pro) c.121T>C (p.Ser41Pro) | |
| 9 | g.126615433T>G | CA374909949 | LMX1B | c.190T>G (p.Ser64Ala) c.121T>G (p.Ser41Ala) | |
| 9 | g.126615433T= | CA1879436166 | LMX1B | c.190T= (p.Ser64=) c.121T= (p.Ser41=) | |
| 9 | g.126615434C>A | CA374909950 | LMX1B | c.191C>A (p.Ser64Tyr) c.122C>A (p.Ser41Tyr) | |
| 9 | g.126615434C= | CA1879436167 | LMX1B | c.191C= (p.Ser64=) c.122C= (p.Ser41=) | |
| 9 | g.126615434C>G | CA374909951 | LMX1B | c.191C>G (p.Ser64Cys) c.122C>G (p.Ser41Cys) | |
| 9 | g.126615434C>T | CA5242249 | LMX1B | c.191C>T (p.Ser64Phe) c.122C>T (p.Ser41Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615435dup | CA10654917 | LMX1B | c.192dup (p.Asp65ArgfsTer?) c.123dup (p.Asp42ArgfsTer?) | ClinVar dbSNP |
| 9 | g.126615435C>A | CA467136296 | LMX1B | c.192C>A (p.Ser64=) c.123C>A (p.Ser41=) | gnomAD v4 |
| 9 | g.126615435C= | CA1879436168 | LMX1B | c.192C= (p.Ser64=) c.123C= (p.Ser41=) | |
| 9 | g.126615435C>G | CA467136297 | LMX1B | c.192C>G (p.Ser64=) c.123C>G (p.Ser41=) | ClinVar dbSNP |
| 9 | g.126615435C>T | CA5242250 | LMX1B | c.192C>T (p.Ser64=) c.123C>T (p.Ser41=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126615436G>A | CA374909952 | LMX1B | c.193G>A (p.Asp65Asn) c.124G>A (p.Asp42Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126615436G>C | CA374909953 | LMX1B | c.193G>C (p.Asp65His) c.124G>C (p.Asp42His) | |
| 9 | g.126615436G= | CA1879436169 | LMX1B | c.193G= (p.Asp65=) c.124G= (p.Asp42=) | |
| 9 | g.126615436G>T | CA374909954 | LMX1B | c.193G>T (p.Asp65Tyr) c.124G>T (p.Asp42Tyr) | ClinVar gnomAD v4 |
| 9 | g.126615437A>C | CA374909957 | LMX1B | c.194A>C (p.Asp65Ala) c.125A>C (p.Asp42Ala) | gnomAD v4 |
| 9 | g.126615437A>G | CA374909956 | LMX1B | c.194A>G (p.Asp65Gly) c.125A>G (p.Asp42Gly) | |
| 9 | g.126615437A>T | CA374909955 | LMX1B | c.194A>T (p.Asp65Val) c.125A>T (p.Asp42Val) | |
| 9 | g.126615438C>A | CA374909958 | LMX1B | c.195C>A (p.Asp65Glu) c.126C>A (p.Asp42Glu) | |
| 9 | g.126615438C>G | CA374909959 | LMX1B | c.195C>G (p.Asp65Glu) c.126C>G (p.Asp42Glu) | |
| 9 | g.126615438C>T | CA467136299 | LMX1B | c.195C>T (p.Asp65=) c.126C>T (p.Asp42=) | |
| 9 | g.126615439C>A | CA374909960 | LMX1B | c.196C>A (p.Arg66Ser) c.127C>A (p.Arg43Ser) | COSMIC COSMIC COSMIC |
| 9 | g.126615439C= | CA1879436170 | LMX1B | c.196C= (p.Arg66=) c.127C= (p.Arg43=) | |
| 9 | g.126615439C>G | CA374909962 | LMX1B | c.196C>G (p.Arg66Gly) c.127C>G (p.Arg43Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615439C>T | CA374909961 | LMX1B | c.196C>T (p.Arg66Cys) c.127C>T (p.Arg43Cys) | gnomAD v4 |
| 9 | g.126615440G>A | CA374909963 | LMX1B | c.197G>A (p.Arg66His) c.128G>A (p.Arg43His) | gnomAD v4 |
| 9 | g.126615440G>C | CA374909965 | LMX1B | c.197G>C (p.Arg66Pro) c.128G>C (p.Arg43Pro) | |
| 9 | g.126615440G>T | CA374909964 | LMX1B | c.197G>T (p.Arg66Leu) c.128G>T (p.Arg43Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126615441C>A | CA467136300 | LMX1B | c.198C>A (p.Arg66=) c.129C>A (p.Arg43=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126615441C= | CA1879436171 | LMX1B | c.198C= (p.Arg66=) c.129C= (p.Arg43=) | |
| 9 | g.126615441C>G | CA467136302 | LMX1B | c.198C>G (p.Arg66=) c.129C>G (p.Arg43=) | |
| 9 | g.126615441C>T | CA467136304 | LMX1B | c.198C>T (p.Arg66=) c.129C>T (p.Arg43=) | gnomAD v4 |
| 9 | g.126615442T>A | CA374909966 | LMX1B | c.199T>A (p.Phe67Ile) c.130T>A (p.Phe44Ile) | |
| 9 | g.126615442T>C | CA374909967 | LMX1B | c.199T>C (p.Phe67Leu) c.130T>C (p.Phe44Leu) | gnomAD v4 |
| 9 | g.126615442T>G | CA374909968 | LMX1B | c.199T>G (p.Phe67Val) c.130T>G (p.Phe44Val) | |
| 9 | g.126615443T>A | CA374909969 | LMX1B | c.200T>A (p.Phe67Tyr) c.131T>A (p.Phe44Tyr) | |
| 9 | g.126615443T>C | CA374909970 | LMX1B | c.200T>C (p.Phe67Ser) c.131T>C (p.Phe44Ser) | |
| 9 | g.126615443T>G | CA374909971 | LMX1B | c.200T>G (p.Phe67Cys) c.131T>G (p.Phe44Cys) | |
| 9 | g.126615444C>A | CA374909972 | LMX1B | c.201C>A (p.Phe67Leu) c.132C>A (p.Phe44Leu) | |
| 9 | g.126615444C>G | CA374909973 | LMX1B | c.201C>G (p.Phe67Leu) c.132C>G (p.Phe44Leu) | |
| 9 | g.126615444C>T | CA467136306 | LMX1B | c.201C>T (p.Phe67=) c.132C>T (p.Phe44=) | gnomAD v4 |
| 9 | g.126615445C>A | CA374909974 | LMX1B | c.202C>A (p.Leu68Met) c.133C>A (p.Leu45Met) | |
| 9 | g.126615445C>G | CA374909975 | LMX1B | c.202C>G (p.Leu68Val) c.133C>G (p.Leu45Val) | gnomAD v4 |
| 9 | g.126615445C>T | CA467136307 | LMX1B | c.202C>T (p.Leu68=) c.133C>T (p.Leu45=) | |
| 9 | g.126615446T>A | CA374909978 | LMX1B | c.203T>A (p.Leu68Gln) c.134T>A (p.Leu45Gln) | |
| 9 | g.126615446T>C | CA374909977 | LMX1B | c.203T>C (p.Leu68Pro) c.134T>C (p.Leu45Pro) | gnomAD v4 |
| 9 | g.126615446T>G | CA374909976 | LMX1B | c.203T>G (p.Leu68Arg) c.134T>G (p.Leu45Arg) | |
| 9 | g.126615447G>A | CA467136309 | LMX1B | c.204G>A (p.Leu68=) c.135G>A (p.Leu45=) | |
| 9 | g.126615447G>C | CA467136310 | LMX1B | c.204G>C (p.Leu68=) c.135G>C (p.Leu45=) | |
| 9 | g.126615447G>T | CA467136311 | LMX1B | c.204G>T (p.Leu68=) c.135G>T (p.Leu45=) | |
| 9 | g.126615448A>C | CA374909979 | LMX1B | c.205A>C (p.Met69Leu) c.136A>C (p.Met46Leu) | |
| 9 | g.126615448A>G | CA374909980 | LMX1B | c.205A>G (p.Met69Val) c.136A>G (p.Met46Val) | |
| 9 | g.126615448A>T | CA374909981 | LMX1B | c.205A>T (p.Met69Leu) c.136A>T (p.Met46Leu) | |
| 9 | g.126615449T>A | CA374909982 | LMX1B | c.206T>A (p.Met69Lys) c.137T>A (p.Met46Lys) | |
| 9 | g.126615449T>C | CA374909983 | LMX1B | c.206T>C (p.Met69Thr) c.137T>C (p.Met46Thr) | gnomAD v4 |
| 9 | g.126615449T>G | CA374909984 | LMX1B | c.206T>G (p.Met69Arg) c.137T>G (p.Met46Arg) | |
| 9 | g.126615450G>A | CA374909985 | LMX1B | c.207G>A (p.Met69Ile) c.138G>A (p.Met46Ile) | gnomAD v4 |
| 9 | g.126615450G>C | CA374909986 | LMX1B | c.207G>C (p.Met69Ile) c.138G>C (p.Met46Ile) | |
| 9 | g.126615450G>T | CA374909987 | LMX1B | c.207G>T (p.Met69Ile) c.138G>T (p.Met46Ile) | |
| 9 | g.126615450dup | CA2573144035 | LMX1B | c.207dup (p.Arg70AlafsTer?) c.138dup (p.Arg47AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126615451C>A | CA467136313 | LMX1B | c.208C>A (p.Arg70=) c.139C>A (p.Arg47=) | gnomAD v4 |
| 9 | g.126615451C>G | CA374909988 | LMX1B | c.208C>G (p.Arg70Gly) c.139C>G (p.Arg47Gly) | |
| 9 | g.126615451C>T | CA374909989 | LMX1B | c.208C>T (p.Arg70Ter) c.139C>T (p.Arg47Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126615452del | CA2697558030 | LMX1B | c.209del (p.Arg70GlnfsTer?) c.140del (p.Arg47GlnfsTer?) | ClinVar |
| 9 | g.126615452G>A | CA374909991 | LMX1B | c.209G>A (p.Arg70Gln) c.140G>A (p.Arg47Gln) | ClinVar gnomAD v4 |
| 9 | g.126615452G>C | CA374909992 | LMX1B | c.209G>C (p.Arg70Pro) c.140G>C (p.Arg47Pro) | |
| 9 | g.126615452G>T | CA374909990 | LMX1B | c.209G>T (p.Arg70Leu) c.140G>T (p.Arg47Leu) | gnomAD v4 |
| 9 | g.126615453A= | CA1879436172 | LMX1B | c.210A= (p.Arg70=) c.141A= (p.Arg47=) | |
| 9 | g.126615453A>C | CA5242251 | LMX1B | c.210A>C (p.Arg70=) c.141A>C (p.Arg47=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615453A>G | CA467136314 | LMX1B | c.210A>G (p.Arg70=) c.141A>G (p.Arg47=) | |
| 9 | g.126615453A>T | CA467136315 | LMX1B | c.210A>T (p.Arg70=) c.141A>T (p.Arg47=) | dbSNP |
| 9 | g.126615454G>A | CA374909993 | LMX1B | c.211G>A (p.Val71Ile) c.142G>A (p.Val48Ile) | |
| 9 | g.126615454G>C | CA374909994 | LMX1B | c.211G>C (p.Val71Leu) c.142G>C (p.Val48Leu) | |
| 9 | g.126615454G>T | CA374909995 | LMX1B | c.211G>T (p.Val71Phe) c.142G>T (p.Val48Phe) | |
| 9 | g.126615455T>A | CA374909996 | LMX1B | c.212T>A (p.Val71Asp) c.143T>A (p.Val48Asp) | |
| 9 | g.126615455T>C | CA374909997 | LMX1B | c.212T>C (p.Val71Ala) c.143T>C (p.Val48Ala) | |
| 9 | g.126615455T>G | CA374909998 | LMX1B | c.212T>G (p.Val71Gly) c.143T>G (p.Val48Gly) | |
| 9 | g.126615456C>A | CA467136316 | LMX1B | c.213C>A (p.Val71=) c.144C>A (p.Val48=) | |
| 9 | g.126615456C= | CA1879436173 | LMX1B | c.213C= (p.Val71=) c.144C= (p.Val48=) | |
| 9 | g.126615456C>G | CA5242252 | LMX1B | c.213C>G (p.Val71=) c.144C>G (p.Val48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615456C>T | CA467136317 | LMX1B | c.213C>T (p.Val71=) c.144C>T (p.Val48=) | |
| 9 | g.126615457_126615564del | CA2695211120 | LMX1B | c.214_321del (p.Asn72_Tyr107del) c.145_252del (p.Asn49_Tyr84del) | |
| 9 | g.126615457A>C | CA374909999 | LMX1B | c.214A>C (p.Asn72His) c.145A>C (p.Asn49His) | |
| 9 | g.126615457A>G | CA374910000 | LMX1B | c.214A>G (p.Asn72Asp) c.145A>G (p.Asn49Asp) | |
| 9 | g.126615457A>T | CA374910001 | LMX1B | c.214A>T (p.Asn72Tyr) c.145A>T (p.Asn49Tyr) | |
| 9 | g.126615458A>C | CA374910003 | LMX1B | c.215A>C (p.Asn72Thr) c.146A>C (p.Asn49Thr) | |
| 9 | g.126615458A>G | CA374910004 | LMX1B | c.215A>G (p.Asn72Ser) c.146A>G (p.Asn49Ser) | |
| 9 | g.126615458A>T | CA374910002 | LMX1B | c.215A>T (p.Asn72Ile) c.146A>T (p.Asn49Ile) | |
| 9 | g.126615459C>A | CA374910005 | LMX1B | c.216C>A (p.Asn72Lys) c.147C>A (p.Asn49Lys) | |
| 9 | g.126615459C>G | CA374910006 | LMX1B | c.216C>G (p.Asn72Lys) c.147C>G (p.Asn49Lys) | |
| 9 | g.126615459C>T | CA467136319 | LMX1B | c.216C>T (p.Asn72=) c.147C>T (p.Asn49=) | gnomAD v4 |
| 9 | g.126615460del | CA2573144036 | LMX1B | c.217del (p.Glu73SerfsTer?) c.148del (p.Glu50SerfsTer?) | ClinVar dbSNP |
| 9 | g.126615460G>A | CA374910007 | LMX1B | c.217G>A (p.Glu73Lys) c.148G>A (p.Glu50Lys) | |
| 9 | g.126615460G>C | CA199787584 | LMX1B | c.217G>C (p.Glu73Gln) c.148G>C (p.Glu50Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126615460G= | CA1879436174 | LMX1B | c.217G= (p.Glu73=) c.148G= (p.Glu50=) | |
| 9 | g.126615460G>T | CA374910008 | LMX1B | c.217G>T (p.Glu73Ter) c.148G>T (p.Glu50Ter) | ClinVar |
| 9 | g.126615461A>C | CA374910011 | LMX1B | c.218A>C (p.Glu73Ala) c.149A>C (p.Glu50Ala) | |
| 9 | g.126615461A>G | CA374910009 | LMX1B | c.218A>G (p.Glu73Gly) c.149A>G (p.Glu50Gly) | gnomAD v4 |
| 9 | g.126615461A>T | CA374910010 | LMX1B | c.218A>T (p.Glu73Val) c.149A>T (p.Glu50Val) | |
| 9 | g.126615462G>A | CA467136321 | LMX1B | c.219G>A (p.Glu73=) c.150G>A (p.Glu50=) | |
| 9 | g.126615462G>C | CA374910012 | LMX1B | c.219G>C (p.Glu73Asp) c.150G>C (p.Glu50Asp) | |
| 9 | g.126615462G>T | CA374910013 | LMX1B | c.219G>T (p.Glu73Asp) c.150G>T (p.Glu50Asp) | |
| 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) | 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 |