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.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 |
| 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) | 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=) |